Normal Chrom Pos Ref Alt Gene Transcript RNA CDS Protein Effect DIS_sample_PD9852b_depth DIS_MtAll_PD9852b DIS_MtAllPct_PD9852b DIS_sample_PD9852c_depth DIS_MtAll_PD9852c DIS_MtAllPct_PD9852c DIS_sample_PD9852h_depth DIS_MtAll_PD9852h DIS_MtAllPct_PD9852h VAL_sample_PD9852b_depth VAL_MtAll_PD9852b VAL_MtAllPct_PD9852b VAL_sample_WGA_PD9852c_depth VAL_MtAll_WGA_PD9852c VAL_MtAllPct_WGA_PD9852c VAL_sample_WGA_PD9852h_depth VAL_MtAll_WGA_PD9852h VAL_MtAllPct_WGA_PD9852h VAL_pbinom_WGA_PD9852h in.discovery in.validation subclonal.CN.c subclonal.CN.h nMaj1.c nMaj1.h nMin1.c nMin1.h frac1.c frac1.h nMaj2.c nMaj2.h nMin2.c nMin2.h frac2.c frac2.h mutation.copy.number.c subclonal.fraction.c no.chrs.bearing.mut.c mutation.copy.number.h subclonal.fraction.h no.chrs.bearing.mut.h val.mutation.copy.number.c val.subclonal.fraction.c val.no.chrs.bearing.mut.c val.mutation.copy.number.h val.subclonal.fraction.h val.no.chrs.bearing.mut.h discovery.DP.cluster validation.DP.cluster pbinom_dis_b pbinom_val_b pbinom_dis_c pbinom_val_c pbinom_dis_h pbinom_val_h VAL_LOCUS val_status_c val_status_h current.conf.status val.platform PD9852b 18 30985 C G - - - - - - 85 0 0 54 12 22.2 54 5 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 0.908789474 0.908789474 1 NA NA 0 NA NA 1 4 NA 1 1 6.90E-17 1 0.00000806 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 83737 C T - - - - - - 10 0 0 27 6 22.2 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 4.23E-09 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 91957 G A POLR3K CCDS10395.1 r.? - - downstream 21 0 0 47 21 44.7 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 5.29E-36 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 120745 C T - - - - - - 13 0 0 18 6 33.3 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 3.572428081 0.956218317 3.735996287 2.613368421 0.871122807 3 NA NA 1 NA NA 0 4 NA 1 1 2.75E-10 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 134185 G T - - - - - - 53 0 0 54 10 18.5 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.91E-13 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 27552435 C T - - - - - - 49 0 0 51 27 52.9 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.640776447 1.320388224 2 2.801719298 0.933906433 3 NA NA 0 NA NA 1 4 NA 1 1 1.52E-48 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 187104 A G - - - - - - 51 0 0 52 16 30.8 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.537540918 0.768770459 2 1.73694383 1.73694383 1 NA NA 0 NA NA 1 4 NA 1 1 1.33E-24 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 195956 G T FAM20C CCDS47522.1 r.? - - intronic 16 0 0 50 15 30 20 8 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.69760479 0.899201597 3 4.412896043 1.952340825 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 5.83E-23 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 207140 G A HBZ CCDS10397.1 r.? - - downstream 37 0 0 38 15 39.5 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.835011195 5 5 4 0 1 0.164988805 1 5 NA 1 NA 0.835011195 NA 3.091675729 0.976836229 3.164988805 3.272596491 1.090865497 3 NA NA 0 NA NA 0 4 NA 1 1 4.24E-25 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 239791 C T - - - - - - 39 0 0 37 12 32.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 2.017933542 1.008966771 2 2.563007823 1.072276262 2.390249522 NA NA 0 NA NA 1 4 NA 1 1 4.03E-19 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 268377 C T ENSG00000186777 CCDS46990.1 r.? - - intronic 61 0 0 35 20 57.1 49 8 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.657299931 1.328649966 2 1.592824561 1.592824561 1 NA NA 0 NA NA 1 4 NA 1 1 2.88E-37 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 2930593 C A - - - - - - 21 0 0 40 13 32.5 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.62240519 0.811202595 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 1.30E-20 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 401075 A T IRF4 CCDS4469.1 r.? - - intronic 53 0 0 70 22 31.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.955651643 0.977825821 2 2.327755897 0.973854769 2.390249522 NA NA 0 NA NA 0 4 NA 1 1 1.63E-33 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 420130 T A KDM5A CCDS41736.1 r.3500a>u c.3137A>T p.Q1046L missense 30 0 0 34 6 17.6 24 3 12.5 328 0 0 208 32 15.4 273 30 11 8.28E-22 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87859481 0.87859481 1 1.221491228 1.221491228 1 0.768770459 0.768770459 1 1.074912281 1.074912281 1 4 3 1 1 1.86E-08 4.58E-37 0.000233853 2.51E-30 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 506776 T C - - - - - - 46 0 0 36 7 19.4 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 5.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 631032 G A PRKAR1B CCDS34579.1 r.? - - intronic 28 0 0 39 9 23.1 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.077155689 1.038577844 2 1.941674259 1.941674259 1 NA NA 1 NA NA 0 4 NA 1 1 3.62E-13 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 726394 G C PALM CCDS32857.1 r.? - - intronic 16 0 0 33 6 18.2 10 2 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 5.384331439 6 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 2.000546906 2.000546906 1 2.431252253 2.431252253 1 NA NA 1 NA NA 0 4 NA 1 1 1.54E-08 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 771960 G A HEATR2 CCDS34580.1 r.? - - intronic 12 0 0 45 6 13.3 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.195938124 1.195938124 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 772651 A G - - - - - - 39 0 0 30 6 20 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.998403194 0.998403194 1 2.783563829 1.178315113 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 8.37E-09 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 799159 G A - - - - - - 39 0 0 42 9 21.4 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 2.295794623 1.147897311 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.51E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 4193041 C A - - - - - - 17 0 0 36 19 52.8 11 5 45.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.635784431 1.317892216 2 5.35622807 1.785409357 3 NA NA 0 NA NA 1 4 NA 1 1 1.51E-34 1 1.41E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 928896 C G - - - - - - 18 0 0 34 8 23.5 12 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 2.52108288 0.921449672 2.735996287 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.32E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 1003136 G T AC116351.4 ENST00000502737 r.? - - upstream 17 0 0 19 11 57.9 15 5 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.311377246 1.155688623 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 3.56E-21 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 40144530 C T HPCAL4 CCDS441.1 r.4646g>a c.? p.? 3'UTR variant 22 0 0 28 5 17.9 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000279 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 1024794 G C - - - - - - 27 0 0 60 11 18.3 37 10 27 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.13975876 1.13975876 1 3.343053682 1.114351227 3 NA NA 0 NA NA 0 4 NA 1 1 1.34E-14 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 5040832 G T - - - - - - 43 0 0 44 13 29.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.472644711 1.472644711 1 2.425017544 0.808339181 3 NA NA 0 NA NA 1 4 NA 1 1 5.49E-20 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 5429238 C A - - - - - - 59 0 0 36 8 22.2 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-11 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 8083463 G A ERRFI1 CCDS94.1 r.? - - intronic 37 0 0 27 10 37 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.847045908 0.923522954 2 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 7.62E-17 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 1169518 G T - - - - - - 37 0 0 64 23 35.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 2.23592019 0.999886508 2.236173977 2.129649012 2.129649012 1 NA NA 0 NA NA 1 4 NA 1 1 1.44E-36 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 1182340 C T - - - - - - 15 0 0 50 22 44 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 5.384331439 6 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 4.836487026 0.967297405 5 1.799126667 1.799126667 1 NA NA 1 NA NA 0 4 NA 1 1 1.85E-37 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 1228773 T A - - - - - - 32 0 0 33 8 24.2 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.966067864 0.966067864 1 1.327760915 1.327760915 1 NA NA 0 NA NA 1 4 NA 1 1 4.85E-12 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 1238813 C T ACAP3 CCDS19.2 r.? - - intronic 20 0 0 20 6 30 7 2 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 3.218403676 1.072801225 3 3.36677193 3.36677193 1 NA NA 1 NA NA 0 4 NA 1 1 5.70E-10 1 0.000516315 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 1384314 C T ATAD3C CCDS44039.1 r.? - - upstream 27 0 0 43 9 20.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 2.242154561 1.121077281 2 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 9.45E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 1385360 T A ENSG00000163945 CCDS33938.1 r.? - - downstream 67 0 0 24 7 29.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.358899439 1.358899439 1 1.436473684 1.436473684 1 NA NA 0 NA NA 1 4 NA 1 1 2.51E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 1395178 G A - - - - - - 20 1 5 50 16 32 26 12 46.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.87744511 0.95914837 3 5.09689493 2.254953652 2.260310284 NA NA 1 NA NA 0 4 NA 0.09538952 1 6.40E-25 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 9122836 C A SLC2A5 CCDS99.1 r.? - - intronic 40 0 0 46 6 13 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.648962076 0.648962076 1 2.02477193 2.02477193 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000123 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 1509539 C T INTS1 CCDS47526.1 r.? - - downstream 13 0 0 35 11 31.4 12 0 0 164 0 0 2 0 0 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.823493014 0.941164338 3 0 NA 0 0 0 1 NA NA 0 NA NA 1 1 1.82E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 1573987 G A IFT140 CCDS10439.1 r.? - - intronic 17 0 0 27 16 59.3 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.835011195 5 5 4 0 1 0.164988805 1 5 NA 1 NA 0.835011195 NA 4.641427108 0.928285422 5 2.354385965 2.354385965 1 NA NA 0 NA NA 0 4 NA 1 1 1.89E-30 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 1666823 G A SLC35E2 CCDS33.1 r.? - - intronic 9 0 0 33 20 60.6 19 7 36.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 6.501175426 1.372715482 4.735996287 4.332070175 1.444023392 3 NA NA 1 NA NA 0 4 NA 1 1 5.14E-38 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 1732074 G A - - - - - - 33 0 0 18 4 22.2 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.664227545 0.664227545 1 0.738333333 0.738333333 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000181 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 1758605 G A - - - - - - 64 0 0 35 17 48.6 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.94011976 0.97005988 2 2.501614035 0.833871345 3 NA NA 0 NA NA 1 4 NA 1 1 3.18E-30 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 1761248 C G ENSG00000224268 ENST00000436115 r.? - - intronic 15 0 0 40 13 32.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.92240519 0.974135063 3 2.07406114 2.07406114 1 NA NA 1 NA NA 0 4 NA 1 1 1.30E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 1837989 G A AL691432.2 ENST00000508906 r.? - - intronic 23 0 0 52 15 28.8 21 9 42.9 250 0 0 15 4 26.7 21 2 9.5 0.018511675 TRUE TRUE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 3.089667529 1.029889176 3 5.050157895 1.683385965 3 2.864379272 0.954793091 3 1.118333333 1.118333333 1 4 3 1 1 1.15E-22 0.000000816 5.44E-16 0.004928472 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 1847369 T A - - - - - - 45 0 0 30 17 56.7 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.263473054 1.131736527 2 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 8.59E-32 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 41168235 G A NFYC CCDS44120.1 r.? - - intronic 32 0 0 44 8 18.2 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 1.024157895 1.024157895 1 NA NA 0 NA NA 1 4 NA 1 1 5.90E-11 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 1932528 C T - - - - - - 55 0 0 41 7 17.1 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.916980737 0.916980737 1 0.317842105 0.317842105 1 NA NA 0 NA NA 1 4 NA 1 1 1.51E-09 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 16076457 T A TMEM82 CCDS30608.1 r.? - - downstream 23 0 0 39 18 46.2 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.306311377 1.153155689 2 4.284982456 1.428327485 3 NA NA 0 NA NA 1 4 NA 1 1 2.15E-31 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 1943869 T A KBTBD11 CCDS34795.1 r.? - - intronic 32 0 0 21 3 14.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.427858283 0.427858283 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000155401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 1991741 G A - - - - - - 51 0 0 39 9 23.1 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.238728363 1.238728363 1 0.671 0.671 1 NA NA 0 NA NA 1 4 NA 1 1 3.62E-13 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 2028888 C T MIR943 ENST00000455762 r.? - - intronic 34 0 0 40 9 22.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.047097171 1.047097171 1 1.358298246 1.358298246 1 NA NA 0 NA NA 1 4 NA 1 1 4.64E-13 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 2065582 G A PRKCZ CCDS37.1 r.? - - intronic 14 0 0 42 16 38.1 13 3 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 4.087372669 1.021843167 4 2.719315789 2.719315789 1 NA NA 1 NA NA 0 4 NA 1 1 2.25E-26 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 2083186 A T MYOM2 CCDS5957.1 r.? - - intronic 55 0 0 27 11 40.7 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.217750499 1.217750499 1 0.826577052 0.826577052 1 NA NA 0 NA NA 0 4 NA 1 1 5.92E-19 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 2098029 G A - - - - - - 66 0 0 41 5 12.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.654220175 0.654220175 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 2114010 G A - - - - - - 56 0 0 48 12 25 44 11 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.340615112 1.340615112 1 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.44E-17 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 2119954 C T CACNA1C ENST00000402845 r.? - - intronic 32 0 0 41 10 24.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 2175920 G A SKI CCDS39.1 r.? - - intronic 50 0 0 48 17 35.4 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 3.797716338 1.016520373 3.735996287 1.436175439 1.436175439 1 NA NA 0 NA NA 0 4 NA 1 1 2.80E-27 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 2201413 A G - - - - - - 41 0 0 21 5 23.8 17 1 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.7120998 0.7120998 1 0.45854386 0.45854386 1 NA NA 1 NA NA 1 4 NA 1 1 5.95E-08 1 0.081683532 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 2204919 A G CNTN4 CCDS43041.1 r.? - - intronic 37 0 0 43 6 14 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.750744463 0.750744463 1 0.835807018 0.835807018 1 NA NA 0 NA NA 1 4 NA 1 1 8.13E-08 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 2216761 G A SKI CCDS39.1 r.? - - intronic 23 0 0 41 16 39 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.735996287 5 4 3 4 2 0.264003713 1 5 NA 4 NA 0.735996287 NA 4.183924779 1.045981195 4 2.02477193 2.02477193 1 NA NA 1 NA NA 0 4 NA 1 1 1.40E-26 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 2217580 C A MAD1L1 CCDS43539.1 r.? - - intronic 43 0 0 55 16 29.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.616676647 0.872225549 3 2.526382985 1.117715122 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 3.78E-24 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 2235445 C T CACNA1C CCDS44794.1 r.? - - intronic 34 0 0 27 4 14.8 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.738818363 0.738818363 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 2302507 C G - - - - - - 51 0 0 35 8 22.9 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.914171657 0.914171657 1 0.701754386 0.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 22562765 C T - - - - - - 21 0 0 36 7 19.4 10 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 5.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 2362573 T C CNTN4 CCDS43041.1 r.? - - intronic 66 0 0 69 6 8.7 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.466534059 1.259389961 0.37044448 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000143 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 22829896 G A ZBTB40 CCDS224.1 r.? - - intronic 43 0 0 39 21 53.8 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.685704591 1.342852295 2 2.837035088 0.945678363 3 NA NA 0 NA NA 1 4 NA 1 1 2.73E-38 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 2408028 G T - - - - - - 34 0 0 25 4 16 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.958722555 0.958722555 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 2480979 A G CCNF CCDS10467.1 r.? - - intronic 44 0 0 44 9 20.5 47 0 0 161 0 0 63 9 14.3 60 3 5 0.022420165 FALSE TRUE 5.835011195 5 5 4 0 1 0.164988805 1 5 NA 1 NA 0.835011195 NA 1.604540568 1.604540568 1 0 NA 0 1.119264884 1.119264884 1 0.588596491 0.588596491 1 NA 3 1 1 1.18E-12 3.62E-11 1 0.003458198 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 1 28192703 C T - - - - - - 29 0 0 27 5 18.5 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.923522954 0.923522954 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 2487839 C T - - - - - - 49 0 0 34 8 23.5 25 0 0 152 0 0 197 56 28.4 263 2 0.8 0.739906466 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.703123752 0.703123752 1 0 0 1 0.849732535 0.849732535 1 0.075143368 0.075143368 1 3 2 1 1 6.32E-12 5.14E-80 1 0.378760394 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 2 2584223 T C - - - - - - 12 1 8.3 19 14 73.7 15 5 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.416115768 1.104028942 4 3.587052632 0.896763158 4 NA NA 1 NA NA 1 4 NA 0.058377193 1 6.93E-29 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30319823 G T - - - - - - 47 0 0 39 9 23.1 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.153155689 1.153155689 1 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 3.62E-13 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 2647500 C T - - - - - - 43 0 0 32 19 59.4 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.371257485 1.185628743 2 2.078947368 1.039473684 2 NA NA 1 NA NA 1 4 NA 1 1 6.23E-36 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 2688312 C G TTC34 ENST00000401094 r.? - - intronic 29 0 0 135 9 6.7 35 0 0 104 1 1 0 0 NA 2 0 0 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.33446507 0.33446507 1 0 0 1 NA NA 0 0 0 1 3 NA 1 0.406254409 3.46E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 2710600 G A TTC34 ENST00000401094 r.? - - upstream 58 0 0 51 8 15.7 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.783746507 0.783746507 1 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 2.05E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 49415385 G C AGBL4 CCDS44137.1 r.? - - intronic 44 0 0 41 6 14.6 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.728834331 0.728834331 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 2756053 G A - - - - - - 19 0 0 38 12 31.6 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 5.86E-19 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 2758439 G C TNIP2 CCDS3362.1 r.? - - upstream 10 0 0 22 5 22.7 12 1 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.056404701 1.056404701 1 0.811070175 0.811070175 1 NA NA 0 NA NA 1 4 NA 1 1 7.67E-08 1 0.058377193 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 2774871 T G - - - - - - 47 0 0 33 9 27.3 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 1.350877193 1.350877193 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-14 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 2778673 G A RAP1GAP2 CCDS45573.1 r.? - - intronic 22 0 0 33 14 42.4 23 8 34.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.69261477 0.846307385 2 3.609849988 1.203283329 3 NA NA 0 NA NA 1 4 NA 1 1 4.57E-24 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 2851431 C T ARSD CCDS35196.1 r.? - - upstream 39 0 0 50 25 50 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 3.996007984 0.999001996 4 2.374603461 1.021621302 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 3.34E-44 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 2881407 A C RAP1GAP2 CCDS45573.1 r.? - - intronic 54 0 0 42 12 28.6 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.141716567 1.141716567 1 1.659701144 1.659701144 1 NA NA 0 NA NA 0 4 NA 1 1 2.35E-18 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 2882033 A G - - - - - - 40 0 0 37 6 16.2 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.808706587 0.808706587 1 0.781754386 0.781754386 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-08 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 2883687 G A PTPRA CCDS13038.1 r.? - - intronic 33 0 0 40 9 22.5 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.123203593 1.123203593 1 2.137777021 2.137777021 1 NA NA 0 NA NA 0 4 NA 1 1 4.64E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 2883919 C T CNTN4 CCDS43041.1 r.? - - intronic 45 0 0 48 17 35.4 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.898310999 0.949155499 2 2.071859649 2.071859649 1 NA NA 0 NA NA 1 4 NA 1 1 2.80E-27 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 2885862 C T PTPRA CCDS13038.1 r.? - - intronic 50 0 0 36 14 38.9 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.941894212 0.970947106 2 1.536527234 1.536527234 1 NA NA 0 NA NA 0 4 NA 1 1 2.09E-23 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 2920156 T A - - - - - - 50 0 0 25 9 36 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.077125749 1.077125749 1 1.142473684 1.142473684 1 NA NA 1 NA NA 1 4 NA 1 1 3.71E-15 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 2930311 C T ZNF77 CCDS12099.1 r.? - - downstream 25 0 0 35 8 22.9 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 5.384331439 6 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 2.517171657 0.839057219 3 0.364687838 NA 0 NA NA 1 NA NA 0 NA NA 1 1 8.15E-12 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 33253566 C A YARS CCDS368.1 r.? - - intronic 26 0 0 34 8 23.5 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.173123752 1.173123752 1 2.354385965 2.354385965 1 NA NA 0 NA NA 1 4 NA 1 1 6.32E-12 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 2948927 T C SERPINB6 CCDS4479.1 r.2731a>g c.736A>G p.K246E missense 19 0 0 43 22 51.2 21 5 23.8 261 1 0.4 189 64 33.9 161 43 26.7 8.42E-48 TRUE TRUE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 3.188833252 1.426021984 2.236173977 2.946839912 0.982279971 3 2.111356391 1.055678196 2 3.305908641 1.101969547 3 4 3 1 0.729713674 2.27E-39 6.24E-97 5.95E-08 1.71E-60 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 45451085 C T EIF2B3 CCDS517.1 r.? - - intronic 42 0 0 53 20 37.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.392427913 5 5 3 1 2 0.607572087 1 5 NA 2 NA 0.392427913 NA 3.160935343 1.053645114 3 1.836421053 1.836421053 1 NA NA 0 NA NA 0 4 NA 1 1 1.65E-32 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 2958553 T A CARD11 CCDS5336.2 r.? - - intronic 22 0 0 52 23 44.2 16 3 18.8 305 0 0 57 16 28.1 31 7 22.6 2.13E-08 TRUE TRUE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.974471058 0.993617764 4 2.07406114 2.07406114 1 2.526756487 0.842252162 3 2.493286264 1.103072566 2.260310284 4 3 1 1 3.66E-39 7.28E-24 0.0000667 1.85E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 51278574 C A FAF1 CCDS554.1 r.? - - intronic 51 0 0 39 7 17.9 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 2973074 A C NAP1L4 CCDS41599.1 r.? - - intronic 38 0 0 29 5 17.2 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.858626747 0.858626747 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000336 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 3087229 G A CCDC64B CCDS45393.1 r.? - - upstream 24 0 0 41 22 53.7 16 6 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.835011195 5 5 4 0 1 0.164988805 1 5 NA 1 NA 0.835011195 NA 4.203113587 1.009153634 4.164988805 4.414473684 1.103618421 4 NA NA 0 NA NA 0 4 NA 1 1 5.33E-40 1 1.20E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 3141864 A T PRDM16 CCDS44048.1 r.? - - intronic 22 0 0 47 8 17 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.848642715 0.848642715 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.03E-10 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 3166750 G A GNA15 CCDS12104.1 r.? - - downstream 37 0 0 54 15 27.8 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 5.384331439 6 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 3.055780439 1.01859348 3 2.60143991 1.091056331 2.384331439 NA NA 1 NA NA 0 4 NA 1 1 2.20E-22 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 3207961 G A - - - - - - 41 0 0 33 18 54.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.175648703 1.087824351 2 2.254385965 1.127192982 2 NA NA 1 NA NA 1 4 NA 1 1 3.68E-33 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 62108533 T G - - - - - - 38 0 0 56 14 25 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 2.166035088 1.083017544 2 NA NA 0 NA NA 1 4 NA 1 1 2.91E-20 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 3227733 C A - - - - - - 45 0 0 45 9 20 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.07249209 1.07249209 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-12 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 63873093 A G ALG6 CCDS30735.1 r.? - - intronic 60 0 0 35 5 14.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 3259101 G A - - - - - - 25 0 0 31 7 22.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.128195609 1.128195609 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.85E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 65759981 T C DNAJC6 CCDS30739.1 r.? - - intronic 46 0 0 42 10 23.8 37 13 35.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.1880998 1.1880998 1 4.131947368 1.377315789 3 NA NA 0 NA NA 1 4 NA 1 1 1.24E-14 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 3268182 C T TSPAN9 CCDS8520.1 r.? - - intronic 28 0 0 46 9 19.6 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 0.947877193 0.947877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 3306173 C G - - - - - - 30 0 0 28 10 35.7 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.661394178 1.661394178 1 2.120508772 2.120508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.18E-16 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 3313753 G C - - - - - - 60 0 0 43 15 34.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.871498696 0.935749348 2 2.283754386 1.141877193 2 NA NA 0 NA NA 1 4 NA 1 1 4.05E-24 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 3321089 G A TSSC1 CCDS1651.1 r.? - - intronic 21 0 0 38 5 13.2 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 3363808 G A NFIC CCDS45914.1 r.? - - intronic 15 0 0 46 19 41.3 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 14 5.384331439 11 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 6.604702595 0.943528942 7 1.397970045 1.397970045 1 NA NA 1 NA NA 0 4 NA 1 1 6.97E-32 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 3363810 G A NFIC CCDS45914.1 r.? - - intronic 14 0 0 46 19 41.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 14 5.384331439 11 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 6.604702595 0.943528942 7 1.799126667 1.799126667 1 NA NA 1 NA NA 0 4 NA 1 1 6.97E-32 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 3417191 G A NFIC CCDS45914.1 r.? - - intronic 26 0 0 68 15 22.1 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 14 5.384331439 11 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 3.534235529 0.883558882 4 1.823439189 1.823439189 1 NA NA 1 NA NA 0 4 NA 1 1 1.06E-20 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 68915579 G A RPE65 CCDS643.1 r.64c>u c.10C>T p.Q4* nonsense 61 0 0 48 12 25 47 6 12.8 164 0 0 188 12 6.4 223 37 16.6 3.84E-33 TRUE TRUE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 1.506807018 1.506807018 1 0.319489022 0.319489022 1 1.954140351 0.977070175 2 4 1 1 1 1.44E-17 3.08E-10 0.000000141 6.95E-44 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 8 3423481 G A CSMD1 ENST00000318252 r.? - - intronic 44 0 0 31 13 41.9 33 1 3 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.253654691 1.253654691 1 0.281787631 0.281787631 1 0 NA 0 NA NA 1 4 NA 1 1 2.32E-22 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 3463034 G A TTC15 CCDS1652.1 r.? - - intronic 16 0 0 51 7 13.7 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.820906188 0.820906188 1 0.517052632 0.517052632 1 NA NA 1 NA NA 1 4 NA 1 1 7.46E-09 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 3478516 T A - - - - - - 38 0 0 24 7 29.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.457668663 1.457668663 1 2.169368421 1.084684211 2 NA NA 1 NA NA 1 4 NA 1 1 2.51E-11 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 73641337 C A - - - - - - 41 0 0 43 10 23.3 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.163139721 1.163139721 1 1.012385965 1.012385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.61E-14 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 74107280 C T - - - - - - 49 0 0 39 9 23.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.153155689 1.153155689 1 1.812877193 1.812877193 1 NA NA 0 NA NA 1 4 NA 1 1 3.62E-13 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 3556081 G C - - - - - - 20 0 0 20 8 40 15 2 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196806387 1.196806387 1 1.033666667 1.033666667 1 NA NA 1 NA NA 1 4 NA 1 1 4.66E-14 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 3558127 C A - - - - - - 45 0 0 25 9 36 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.797125749 0.898562874 2 1.895754386 1.895754386 1 NA NA 1 NA NA 1 4 NA 1 1 3.71E-15 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 80843666 G A - - - - - - 43 0 0 53 21 39.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.976838323 0.988419162 2 2.66045614 0.886818713 3 NA NA 0 NA NA 1 4 NA 1 1 1.30E-34 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 3619513 G T TP73 CCDS49.1 r.? - - intronic 17 0 0 35 15 42.9 11 2 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.14157485 1.070787425 2 2.142491228 2.142491228 1 NA NA 0 NA NA 1 4 NA 1 1 9.02E-26 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 3694845 C T SDK1 CCDS34590.1 r.? - - intronic 29 0 0 33 10 30.3 24 9 37.5 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.724580838 0.908193613 3 4.137090041 1.830319523 2.260310284 0 0 1 NA NA 0 4 NA 1 1 8.14E-16 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 3785602 C A SDK1 CCDS34590.1 r.? - - intronic 39 0 0 49 15 30.6 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.751556886 0.917185629 3 1.919609779 1.919609779 1 NA NA 1 NA NA 0 4 NA 1 1 4.10E-23 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 3794457 C T ENSG00000214866 ENST00000423741 r.? - - intronic 41 0 0 35 12 34.3 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.055261477 1.027630739 2 0.452421053 0.452421053 1 NA NA 1 NA NA 1 4 NA 1 1 1.83E-19 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 3801183 C G SDK1 CCDS34590.1 r.? - - intronic 25 0 0 39 12 30.8 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.769540918 0.923180306 3 1.765158417 1.765158417 1 NA NA 1 NA NA 0 4 NA 1 1 8.43E-19 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 3810998 C T C1orf174 CCDS53.1 r.? - - intronic 15 0 0 32 10 31.2 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.557508982 1.557508982 1 3.272596491 1.090865497 3 NA NA 0 NA NA 1 4 NA 1 1 5.70E-16 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 76348986 A T MSH4 CCDS670.1 r.? - - intronic 52 0 0 45 15 33.3 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 2.69577193 0.898590643 3 NA NA 0 NA NA 1 4 NA 1 1 9.14E-24 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 79871371 G T - - - - - - 45 0 0 36 16 44.4 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.21645509 1.108227545 2 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 1.01E-27 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 3913976 G T - - - - - - 32 0 0 40 8 20 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.245637989 1.245637989 1 2.414427659 1.010115319 2.390249522 NA NA 0 NA NA 0 4 NA 1 1 2.61E-11 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 3920032 G A - - - - - - 23 0 0 28 15 53.6 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.494418149 1.247209075 2 2.853403509 1.426701754 2 NA NA 0 NA NA 1 4 NA 1 1 1.07E-27 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 3938145 C A SDK1 CCDS34590.1 r.? - - intronic 46 0 0 59 10 16.9 47 4 8.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.519650699 1.519650699 1 0.937740409 0.937740409 1 NA NA 1 NA NA 0 4 NA 1 1 4.91E-13 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 3964762 A G - - - - - - 47 0 0 69 7 10.1 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.807193613 0.807193613 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 3970008 G A - - - - - - 47 0 0 42 12 28.6 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0.332245614 0.332245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.35E-18 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 3985223 G C EEF2 CCDS12117.1 r.? - - intronic 13 0 0 26 7 26.9 13 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.996143641 0.998071821 2 0 0 1 NA NA 0 NA NA 0 4 NA 1 1 4.73E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 4131640 T C - - - - - - 44 0 0 42 4 9.5 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.442107694 0.668089467 0.661749236 0.332245614 0.332245614 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000601 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 83595268 C T - - - - - - 55 0 0 43 18 41.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.091654691 1.045827345 2 3.143105263 1.047701754 3 NA NA 0 NA NA 1 4 NA 1 1 2.06E-30 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 4135789 G A SMOX CCDS13075.1 r.? - - intronic 24 0 0 25 7 28 11 3 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.397764471 1.397764471 1 3.039651702 3.039651702 1 NA NA 0 NA NA 0 4 NA 1 1 3.47E-11 1 0.00002 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 4199208 T A - - - - - - 45 0 0 54 19 35.2 48 7 14.6 156 0 0 339 139 41 217 22 10.1 1.15E-15 TRUE TRUE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 2.813189621 0.937729874 3 1.620056567 1.620056567 1 3.276726547 1.092242182 3 1.120724063 1.120724063 1 4 3 1 1 2.97E-30 1.05E-222 4.81E-09 6.99E-22 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 4199214 C T - - - - - - 46 0 0 55 21 38.2 46 5 10.9 152 0 0 334 135 40.4 219 22 10 1.39E-15 TRUE TRUE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 3.0529501 1.017650033 3 1.209494286 1.209494286 1 3.228774451 1.07625815 3 1.109627785 1.109627785 1 4 3 1 1 3.41E-34 2.78E-215 0.00000361 8.56E-22 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 4223714 C T - - - - - - 46 0 0 52 28 53.8 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.299704591 1.074926148 4 2.219255571 0.954786264 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.41E-50 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 4270108 C T SRL CCDS42113.1 r.? - - intronic 19 0 0 35 14 40 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.396806387 1.198403194 2 3.186363583 1.062121194 3 NA NA 0 NA NA 0 4 NA 1 1 1.28E-23 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 4274519 C T - - - - - - 35 0 0 33 18 54.5 21 6 28.6 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.720648703 1.360324351 2 2.79477193 1.397385965 2 4.992015968 2.496007984 2 NA NA 1 4 NA 1 1 3.68E-33 0.000025 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 4362983 G A - - - - - - 46 0 0 49 18 36.7 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.19906986 1.09953493 2 1.314175439 1.314175439 1 NA NA 1 NA NA 1 4 NA 1 1 3.80E-29 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 4367713 G A - - - - - - 28 0 0 23 14 60.9 33 12 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.431137725 1.215568862 2 3.556982456 1.185660819 3 NA NA 0 NA NA 1 4 NA 1 1 4.78E-27 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 4375093 G A - - - - - - 48 0 0 40 15 37.5 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.872005988 0.936002994 2 2.442982456 1.221491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 4380082 C T - - - - - - 65 0 0 42 6 14.3 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 1.504877193 1.504877193 1 NA NA 1 NA NA 1 4 NA 1 1 7.02E-08 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 4397954 G A - - - - - - 36 0 0 49 6 12.2 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.975025948 0.975025948 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 4431557 C T SUMF1 CCDS2564.1 r.? - - intronic 42 0 0 42 13 31 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.662362739 1.020132618 1.62955552 2.542736842 0.847578947 3 NA NA 0 NA NA 1 4 NA 1 1 2.72E-20 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 4444045 C T STX18 CCDS3377.1 r.? - - intronic 29 0 0 39 6 15.4 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.716679841 0.716679841 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 4454675 T C - - - - - - 61 0 0 68 21 30.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 2.469532934 0.823177645 3 1.509093788 1.509093788 1 NA NA 0 NA NA 0 4 NA 1 1 7.15E-32 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96166726 G T - - - - - - 52 0 0 45 19 42.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.106630739 1.053315369 2 2.483877193 0.827959064 3 NA NA 0 NA NA 1 4 NA 1 1 4.11E-32 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 4533135 C A PLIN5 CCDS42473.1 r.? - - intronic 19 0 0 32 9 28.1 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.085190941 1.042595471 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 4.94E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 4540793 T C SEMA6B CCDS12131.1 r.? - - downstream 36 0 0 33 13 39.4 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.923719682 0.974573227 3 2.808096352 0.936032117 3 NA NA 1 NA NA 0 4 NA 1 1 6.37E-22 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 4586643 G T - - - - - - 57 0 0 46 11 23.9 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.193091816 1.193091816 1 0.889245614 0.889245614 1 NA NA 1 NA NA 1 4 NA 1 1 5.55E-16 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 4591170 G C - - - - - - 26 0 0 45 9 20 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-12 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 4606548 C T ITPR1 CCDS46740.1 r.? - - intronic 58 0 0 42 15 35.7 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.91439838 0.95719919 2 1.035929825 1.035929825 1 NA NA 0 NA NA 1 4 NA 1 1 2.65E-24 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 4613372 C A - - - - - - 48 0 0 63 4 6.3 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.503497006 0.503497006 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000294233 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 98300254 G A DPYD CCDS30777.1 r.? - - intronic 51 0 0 35 8 22.9 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 2.177807018 2.177807018 1 NA NA 0 NA NA 1 4 NA 1 1 8.15E-12 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 4690453 C T DPP9 CCDS45928.1 r.? - - intronic 14 0 0 38 10 26.3 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.951619991 0.975809996 2 2.60143991 2.60143991 1 NA NA 1 NA NA 0 4 NA 1 1 4.06E-15 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 4742462 A G ENSG00000224867 ENST00000416839 r.? - - intronic 33 0 0 33 17 51.5 24 5 20.8 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.055888224 1.027944112 2 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 8.25E-31 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 4772519 T G - - - - - - 24 0 0 44 17 38.6 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.312918164 1.156459082 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 4.61E-28 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 4785450 T A MMP26 CCDS7752.1 r.? - - upstream 46 0 0 41 6 14.6 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.728834331 0.728834331 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 100480505 G T SLC35A3 CCDS762.1 r.? - - intronic 24 0 0 37 15 40.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.021766467 1.010883234 2 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 2.58E-25 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 4895128 C T ARRDC5 CCDS45929.1 r.? - - intronic 41 0 0 31 5 16.1 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.194717941 1.194717941 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 4905024 G A UBN1 CCDS10525.1 r.? - - intronic 27 0 0 44 16 36.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.181093812 1.090546906 2 2.888804338 0.962934779 3 NA NA 0 NA NA 1 4 NA 1 1 5.57E-26 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 4911978 A T ENSG00000224867 ENST00000416839 r.? - - intronic 46 0 0 27 16 59.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.367265469 1.183632735 2 1.131578947 1.131578947 1 NA NA 1 NA NA 1 4 NA 1 1 1.89E-30 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 4950002 T G - - - - - - 60 0 0 36 7 19.4 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.580451098 0.580451098 1 0.422681447 0.422681447 1 NA NA 0 NA NA 1 4 NA 1 1 5.74E-10 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 4950393 G C MMD2 CCDS47529.1 r.? - - intronic 16 0 0 44 10 22.7 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.041187625 1.020593812 2 2.327802663 2.327802663 1 NA NA 1 NA NA 0 4 NA 1 1 2.08E-14 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 110170415 C T AMPD2 CCDS805.1 r.1492c>u c.1132C>T p.R378W missense 22 0 0 35 15 42.9 22 4 18.2 205 1 0.5 22 7 31.8 17 2 11.8 0.012308986 TRUE TRUE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.14157485 1.070787425 2 2.142491228 2.142491228 1 1.587461078 1.587461078 1 1.389087719 1.389087719 1 4 3 1 0.642124842 9.02E-26 1.25E-11 0.00000425 0.003234386 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 4989988 T C - - - - - - 39 0 0 25 13 52 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.419957906 1.209978953 2 1.299666667 1.299666667 1 NA NA 0 NA NA 1 4 NA 1 1 6.00E-24 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 5033834 A G - - - - - - 51 0 0 19 4 21.1 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.631315369 0.631315369 1 1.634368261 1.634368261 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000228 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 5038601 G A KDM4B CCDS12138.1 r.? - - intronic 13 0 0 43 11 25.6 20 0 0 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.899675733 0.949837866 2 0 0 1 NA NA 1 NA NA 0 4 NA 1 1 2.42E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 5091257 T A - - - - - - 33 0 0 26 8 30.8 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.537540918 1.537540918 1 1.876210526 1.876210526 1 NA NA 1 NA NA 1 4 NA 1 1 5.63E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 5172178 C A - - - - - - 27 0 0 27 11 40.7 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 3.020187591 1.006729197 3 2.358314685 0.989088449 2.384331439 NA NA 1 NA NA 0 4 NA 1 1 5.92E-19 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 5189749 A G OR52A1 CCDS31374.1 r.? - - intronic 56 0 0 43 9 20.9 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.043331337 1.043331337 1 0.263842105 0.263842105 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 145598049 C A POLR3C CCDS921.1 r.? - - intronic 54 0 0 55 20 36.4 45 8 17.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.817093812 0.908546906 2 2.095403509 1.047701754 2 NA NA 0 NA NA 1 4 NA 1 1 4.08E-32 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 5239797 A T ADAMTS16 CCDS43299.1 r.2420a>u c.2282A>T p.Y761F missense 40 0 0 29 7 24.1 27 0 0 252 0 0 127 8 6.3 155 0 0 1 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.962075848 0.962075848 1 0 0 1 0.251497006 0.251497006 1 0 0 1 3 2 1 1 1.11E-10 0.000000309 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 20 5242915 A T - - - - - - 40 0 0 47 4 8.5 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.424321357 0.424321357 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 5252805 A G HBD CCDS31376.1 r.? - - downstream 46 0 0 46 24 52.2 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.605832335 1.302916168 2 2.276859649 1.138429825 2 NA NA 1 NA NA 1 4 NA 1 1 4.23E-43 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 5253261 G A - - - - - - 58 0 0 47 12 25.5 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.272964072 1.272964072 1 0.364929825 0.364929825 1 NA NA 0 NA NA 1 4 NA 1 1 1.09E-17 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 148513124 G A - - - - - - 76 0 0 80 8 10 57 4 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0.754035088 0.754035088 1 NA NA 1 NA NA 1 4 NA 1 1 8.22E-09 1 0.000199821 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 5307388 C G - - - - - - 45 0 0 61 7 11.5 33 0 0 117 0 0 172 7 4.1 120 0 0 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.919081836 0.919081836 1 0 NA 0 0.327672655 0.327672655 1 0 NA 0 NA NA 1 1 2.69E-08 0.0000297 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 12 5337542 C T - - - - - - 44 0 0 45 20 44.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.21645509 1.108227545 2 3.136789474 1.568394737 2 NA NA 1 NA NA 1 4 NA 1 1 2.68E-34 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 5370091 C T - - - - - - 67 0 0 37 5 13.5 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.673922156 0.673922156 1 0.857337659 0.857337659 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000119 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 154811466 C A KCNN3 CCDS30880.1 r.? - - intronic 31 0 0 43 12 27.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.671772455 0.835886228 2 2.359052632 1.179526316 2 NA NA 1 NA NA 1 4 NA 1 1 3.24E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 5452959 C G TNRC18 CCDS47534.1 r.? - - intronic 20 0 0 40 16 40 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.596806387 0.899201597 4 1.180449692 1.180449692 1 NA NA 1 NA NA 0 4 NA 1 1 8.56E-27 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 5492011 T C - - - - - - 43 0 0 32 9 28.1 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.840756487 0.840756487 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.94E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 5492921 C A - - - - - - 35 0 0 23 5 21.7 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.649267465 0.649267465 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 9.75E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 5515874 G A - - - - - - 36 0 0 44 17 38.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.864354816 0.954784939 3 2.60143991 1.091056331 2.384331439 NA NA 0 NA NA 0 4 NA 1 1 4.61E-28 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 5519650 T C - - - - - - 41 0 0 49 8 16.3 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.976698603 0.976698603 1 0.421542264 0.421542264 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 5558942 G A - - - - - - 51 0 0 48 15 31.2 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 3.231578947 1.077192982 3 NA NA 1 NA NA 1 4 NA 1 1 2.86E-23 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 157839413 G T - - - - - - 46 0 0 51 24 47.1 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.822239521 1.41111976 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-41 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 5576058 C G - - - - - - 49 0 0 48 4 8.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.414337325 0.414337325 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 5651272 C T - - - - - - 48 0 0 97 11 11.3 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.903097804 0.903097804 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 3.27E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 5659736 C T - - - - - - 48 0 0 65 23 35.4 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 2.829173653 0.943057884 3 0.721258061 0.721258061 1 NA NA 0 NA NA 0 4 NA 1 1 2.21E-36 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 5671309 G A - - - - - - 52 0 0 40 9 22.5 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.123203593 1.123203593 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.64E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 5681738 G A - - - - - - 49 0 0 28 8 28.6 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0.254385965 0.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.11E-12 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 5705637 G C EVC2 CCDS3382.2 r.? - - intronic 40 0 0 43 18 41.9 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.94992762 0.97496381 2 2.169368421 1.084684211 2 NA NA 0 NA NA 1 4 NA 1 1 2.06E-30 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 5795512 G T - - - - - - 40 0 0 24 7 29.2 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.165668663 1.165668663 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-11 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 5849577 G T - - - - - - 44 1 2.3 33 16 48.5 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.936127745 0.968063872 2 2.593283038 1.081076185 2.398797674 NA NA 0 NA NA 0 4 NA 0.197923942 1 1.64E-28 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 5879722 C A - - - - - - 29 0 0 55 25 45.5 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.091367265 1.022841816 4 1.522449135 1.522449135 1 NA NA 1 NA NA 0 4 NA 1 1 7.96E-43 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 5927869 G A NPHP4 CCDS44052.1 r.3669c>u c.3403C>T p.R1135C missense 20 0 0 37 5 13.5 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.673922156 0.673922156 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000119 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 5936237 G A AL136307.1 ENST00000510466 r.? - - intronic 37 0 0 48 6 12.5 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 0.778523743 0.778523743 1 0.359068729 0.359068729 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000016 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 5939500 A T FBXO18 CCDS7073.1 r.? - - intronic 52 0 0 58 17 29.3 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.169660679 1.169660679 1 1.833333333 0.916666667 2 NA NA 1 NA NA 1 4 NA 1 1 1.24E-25 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 5947561 T C - - - - - - 58 0 0 21 8 38.1 25 6 24 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.139958084 1.139958084 1 2.25430105 1.127150525 2 2.992015968 2.992015968 1 NA NA 1 4 NA 1 1 7.50E-14 0.000025 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 5995432 C T WSCD1 CCDS32538.1 r.? - - intronic 13 0 0 28 5 17.9 9 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.714570858 0.714570858 1 0 0 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000279 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 168412149 A G - - - - - - 56 0 0 41 5 12.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0.894070175 0.894070175 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000202 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 6106078 C T - - - - - - 53 1 1.9 55 22 40 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 0.233303855 1 2.65E-36 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 6174464 A G ACSBG2 CCDS12159.1 r.? - - intronic 36 0 0 33 6 18.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.350550716 1.350550716 1 1.519532658 1.519532658 1 NA NA 1 NA NA 0 4 NA 1 1 1.54E-08 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 6185817 A G - - - - - - 44 0 0 28 12 42.9 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.28357485 1.28357485 1 1.76422807 1.76422807 1 NA NA 1 NA NA 1 4 NA 1 1 6.90E-21 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 6189957 C T - - - - - - 45 0 0 48 13 27.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.623836327 0.811918164 2 2.616041697 1.102127948 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 2.00E-19 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 6215469 G A - - - - - - 52 0 0 61 9 14.8 35 3 8.6 169 0 0 307 23 7.5 260 30 11.5 1.99E-22 TRUE TRUE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.886818363 0.886818363 1 1.066253962 1.066253962 1 0.449401198 0.449401198 1 1.425804716 1.037984646 1.373627945 4 1 1 1 2.68E-11 8.12E-20 0.000725791 5.68E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 10 6227019 C T PFKFB3 CCDS44353.1 r.? - - intronic 37 0 0 29 6 20.7 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.826347305 0.826347305 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 6235484 A T CYTH3 CCDS5346.1 r.? - - intronic 60 0 0 67 27 40.3 47 8 17 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.623782435 0.905945609 4 1.875480818 1.875480818 1 NA NA 1 NA NA 0 4 NA 1 1 2.52E-44 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 169030875 G T - - - - - - 40 0 0 50 5 10 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 6261030 A C MLLT1 CCDS12160.1 r.? - - intronic 18 0 0 26 4 15.4 10 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.142773683 1.142773683 1 0 0 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000856 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 6357623 G T - - - - - - 41 0 0 46 11 23.9 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.281628047 1.281628047 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 5.55E-16 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 6362030 T A - - - - - - 61 0 0 72 4 5.6 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.503552894 0.503552894 1 0.288503224 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000490365 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 6397350 T C - - - - - - 54 0 0 49 23 46.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.810255489 1.405127745 2 2.715228112 0.905076037 3 NA NA 0 NA NA 0 4 NA 1 1 6.14E-40 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 6408349 A G MCPH1 CCDS43689.1 r.? - - intronic 21 0 0 31 12 38.7 19 4 21.1 291 0 0 145 38 26.2 137 21 15.3 9.52E-19 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.15791018 1.15791018 1 1.98190634 1.98190634 1 0.783908184 0.783908184 1 1.437116919 1.437116919 1 4 3 1 1 3.16E-20 2.71E-53 0.00000228 7.92E-25 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 6476707 A G HES2 CCDS30574.1 r.2847u>c c.? p.? 3'UTR variant 19 0 0 36 9 25 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.447333333 0.447333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.63E-13 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 171581831 G A - - - - - - 30 0 0 38 8 21.1 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.264315369 1.264315369 1 1.594245614 1.594245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.67E-11 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 6528089 G A TNFSF9 CCDS12169.1 r.? - - upstream 44 0 0 32 11 34.4 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.552689266 1.051098284 2.428592363 4.558597974 1.346971494 3.384331439 NA NA 1 NA NA 1 4 NA 1 1 5.72E-18 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176499286 G T PAPPA2 CCDS41438.1 r.? - - intronic 41 0 0 42 16 38.1 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.282958084 1.141479042 2 1.605017544 1.605017544 1 NA NA 1 NA NA 1 4 NA 1 1 2.25E-26 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 6592560 T A - - - - - - 56 0 0 59 6 10.2 48 8 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.917185629 0.917185629 1 1.853078402 1.853078402 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000561 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 6624121 T A - - - - - - 48 0 0 46 10 21.7 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.083267465 1.083267465 1 1.113425532 1.113425532 1 NA NA 0 NA NA 0 4 NA 1 1 3.38E-14 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 6628684 G T - - - - - - 59 0 0 74 9 12.2 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.097025948 1.097025948 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 6634968 G T - - - - - - 46 0 0 57 21 36.8 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.205061876 1.102530938 2 2.616041697 1.102127948 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 8.56E-34 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 6652522 C T - - - - - - 49 0 0 41 12 29.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.174238241 1.087119121 2 1.25209491 1.25209491 1 NA NA 1 NA NA 1 4 NA 1 1 1.69E-18 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 6661016 T C - - - - - - 43 0 0 59 17 28.8 16 3 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.544388609 0.94773611 1.62955552 2.213122807 2.213122807 1 NA NA 0 NA NA 1 4 NA 1 1 1.74E-25 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176834451 C A ASTN1 CCDS1319.1 r.? - - intronic 49 0 0 53 14 26.4 49 6 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.581892216 0.790946108 2 1.314175439 1.314175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.22E-20 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 6696374 G A - - - - - - 14 0 0 58 15 25.9 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.328932136 1.164466068 2 0.849482488 0.849482488 1 NA NA 1 NA NA 0 4 NA 1 1 7.42E-22 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 177713867 C A - - - - - - 41 0 0 45 4 8.9 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 181627833 C A CACNA1E ENST00000367573 r.? - - intronic 38 0 0 41 12 29.3 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.755660679 0.877830339 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.69E-18 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 6727027 G A ZNF12 CCDS47538.1 r.? - - downstream 16 0 0 32 7 21.9 16 0 0 1 0 0 1 0 0 2 0 0 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.969251497 0.984625749 2 0 NA 0 0 0 1 0 NA 0 NA NA 1 1 2.36E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 6754981 T C - - - - - - 61 0 0 62 42 67.7 52 11 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 5.906373208 1.181274642 5 2.352410905 1.012073439 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.90E-81 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 6786025 A G OR2AG2 CCDS31413.1 r.? - - downstream 48 0 0 36 21 58.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.910345309 1.455172655 2 2.257315789 1.128657895 2 NA NA 1 NA NA 1 4 NA 1 1 2.47E-39 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 183519685 G A SMG7 CCDS1355.1 r.? - - intronic 53 0 0 42 18 42.9 44 11 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.57057485 1.285287425 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.20E-30 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 6811971 C G VAV1 CCDS12174.1 r.? - - intronic 38 0 0 33 12 36.4 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.701101433 0.900367144 3 0.86309455 0.86309455 1 NA NA 1 NA NA 0 4 NA 1 1 7.86E-20 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 6850039 C A GRM7 ENST00000448328 r.? - - intronic 42 0 0 46 15 32.6 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.748162106 1.072784624 1.62955552 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 1.35E-23 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 6862326 T G KIAA0232 CCDS43209.1 r.? - - intronic 47 0 0 40 8 20 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.930753041 0.930753041 1 1.436473684 1.436473684 1 NA NA 0 NA NA 1 4 NA 1 1 2.61E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 6862925 G A - - - - - - 41 0 0 38 10 26.3 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.0499002 1.0499002 1 1.684210526 1.684210526 1 NA NA 1 NA NA 1 4 NA 1 1 4.06E-15 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 6880095 C A - - - - - - 37 0 0 44 4 9.1 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 0.566765285 0.566765285 1 2.402045979 1.004935241 2.390249522 NA NA 0 NA NA 1 4 NA 1 1 0.0000723 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 6902572 C T - - - - - - 47 0 0 79 8 10.1 51 1 2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.881157598 0.881157598 1 0.221925557 NA 0 NA NA 0 NA NA 0 NA NA 1 1 7.43E-09 1 0.225579006 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 6948618 G A - - - - - - 29 0 0 51 20 39.2 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.524870259 0.881217565 4 1.434191214 1.434191214 1 NA NA 1 NA NA 0 4 NA 1 1 6.38E-33 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 6952266 T G - - - - - - 53 0 0 39 10 25.6 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.533956088 1.533956088 1 3.384736413 1.128245471 3 NA NA 0 NA NA 0 4 NA 1 1 5.44E-15 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 6954898 G A GNB3 CCDS8564.1 r.1253g>a c.848G>A p.R283H missense 17 0 0 43 9 20.9 16 0 0 259 0 0 43 9 20.9 53 0 0 1 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.043331337 1.043331337 1 0 0 1 1.043331337 1.043331337 1 0 0 1 4 2 1 1 9.45E-13 9.45E-13 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 10 6955078 A C - - - - - - 53 0 0 38 4 10.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.419161677 0.419161677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 6975530 C T USP5 CCDS41743.1 r.2925c>u c.? p.? 3'UTR variant 22 0 0 47 6 12.8 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 0.781754386 0.781754386 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000141 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 190212752 C A FAM5C CCDS1373.1 r.? - - intronic 50 0 0 36 10 27.8 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.665780439 1.665780439 1 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 6987350 G T - - - - - - 60 0 0 19 5 26.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.7869002 0.7869002 1 0.291180552 0.291180552 1 NA NA 0 NA NA 0 4 NA 1 1 3.43E-08 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 6996527 C A - - - - - - 39 0 0 20 8 40 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.196806387 1.196806387 1 0.347538079 0.347538079 1 NA NA 0 NA NA 1 4 NA 1 1 4.66E-14 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 7009717 G T CAMTA1 CCDS30576.1 r.? - - intronic 29 0 0 33 7 21.2 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.058307385 1.058307385 1 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.98E-10 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 191569981 G T - - - - - - 37 0 0 36 10 27.8 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.665780439 1.665780439 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 7090332 G C - - - - - - 47 0 0 79 13 16.5 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.439514888 1.439514888 1 0.62139156 0.62139156 1 NA NA 0 NA NA 0 4 NA 1 1 2.37E-16 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 7132768 A T INSR CCDS12176.1 r.? - - intronic 13 0 0 35 6 17.1 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.268924025 1.268924025 1 0.437625405 0.437625405 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-08 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 7134541 C A GRM7 CCDS43042.1 r.? - - intronic 47 0 0 49 15 30.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.640912897 1.006969616 1.62955552 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 4.10E-23 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 7153289 G C - - - - - - 36 0 0 26 10 38.5 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.536926148 1.536926148 1 1.947368421 1.947368421 1 NA NA 1 NA NA 1 4 NA 1 1 4.82E-17 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 203851683 T C - - - - - - 38 0 0 48 18 37.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-29 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 7166486 C T CAMTA1 CCDS30576.1 r.? - - intronic 42 0 0 27 11 40.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.031750499 1.01587525 2 2.177807018 2.177807018 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-19 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 7197978 C A SFMBT2 CCDS31138.1 r.? - - downstream 57 0 0 39 19 48.7 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.944111776 0.972055888 2 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-33 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 7204850 T G SORCS2 CCDS47008.1 r.? - - intronic 15 0 0 19 9 47.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.205884707 1.102942353 2 1.749175439 1.749175439 1 NA NA 0 NA NA 1 4 NA 1 1 1.72E-16 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 7206475 C T - - - - - - 44 0 0 45 8 17.8 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.888578842 0.888578842 1 2.683355532 1.135895769 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 7.14E-11 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 7237524 T C INSR CCDS12176.1 r.? - - intronic 18 0 0 27 4 14.8 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.098250033 1.098250033 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 7304129 T A - - - - - - 51 0 0 39 5 12.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.638978044 0.638978044 1 1.547661489 1.547661489 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000156 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 205757226 G T SLC41A1 CCDS30988.1 r.? - - downstream 34 0 0 46 20 43.5 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.606526946 1.303263473 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 4.72E-34 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 7361230 G A CAMTA1 CCDS30576.1 r.? - - intronic 40 0 0 38 15 39.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.971846307 0.985923154 2 2.071859649 2.071859649 1 NA NA 0 NA NA 1 4 NA 1 1 4.24E-25 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 210262795 G T SYT14 CCDS31014.1 r.? - - intronic 40 0 0 52 16 30.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 1.33E-24 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 7432359 G C PSAPL1 CCDS47009.1 r.4342c>g c.? p.? 3'UTR variant 18 0 0 35 18 51.4 23 6 26.1 162 0 0 11 2 18.2 22 9 40.9 4.42E-13 TRUE TRUE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.392035315 1.196017657 2 2.550473684 1.275236842 2 0.846985267 0.846985267 1 3.996719298 1.998359649 2 4 3 1 1 1.60E-32 0.001334363 1.47E-09 9.16E-16 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 7439430 G C - - - - - - 55 0 0 84 5 6 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.523459959 0.523459959 1 0.266310669 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000695 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 7458431 C T - - - - - - 53 0 0 89 32 36 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 3.140759756 0.961157938 3.267683312 0.288503224 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.73E-50 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 7464488 C T - - - - - - 44 0 0 63 8 12.7 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.107990247 1.107990247 1 2.541047629 1.093230272 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.18E-09 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 7466013 G T ENSG00000078328 CCDS45405.1 r.? - - intronic 54 0 0 36 6 16.7 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.000666667 1.000666667 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.68E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 7493338 C T COL28A1 CCDS43553.1 r.? - - intronic 50 0 0 50 26 52 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.675848303 1.168962076 4 2.327802663 1.029859785 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.61E-46 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 7545069 G C PPFIBP2 CCDS31419.1 r.? - - intronic 48 0 0 34 16 47.1 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.351239521 1.17561976 2 3.703561404 1.851780702 2 NA NA 1 NA NA 1 4 NA 1 1 3.09E-28 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 7578437 G A TP53 CCDS11118.1 r.683c>u c.493C>T p.Q165* nonsense 13 0 0 29 14 48.3 15 4 26.7 263 0 0 176 79 44.9 163 27 16.6 1.35E-24 TRUE TRUE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.928143713 0.964071856 2 2.769626284 0.923208761 3 1.79241517 0.896207585 2 1.721939937 0.860969969 2 4 3 1 1 4.41E-25 2.35E-131 0.000000816 1.94E-32 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 211199550 G T KCNH1 CCDS31015.1 r.? - - intronic 46 0 0 53 15 28.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 0.333929825 0.333929825 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-22 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 7592465 G A SORCS2 CCDS47008.1 r.? - - intronic 31 0 0 34 5 14.7 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.684103485 0.684103485 1 1.084684211 1.084684211 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000771 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 7649338 G T PTPRM CCDS11840.1 r.? - - intronic 52 0 0 32 8 25 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 1.260578947 1.260578947 1 NA NA 0 NA NA 1 4 NA 1 1 3.69E-12 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 7681569 G A - - - - - - 32 0 0 28 13 46.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.316295409 1.158147705 2 1.631912281 1.631912281 1 NA NA 1 NA NA 1 4 NA 1 1 4.26E-23 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 220780995 C T MARK1 CCDS31029.2 r.? - - intronic 41 0 0 48 8 16.7 23 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 1.23E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 7723588 T C GRM7 CCDS43042.1 r.? - - intronic 39 0 0 57 8 14 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.750744463 0.750744463 1 1.106561404 1.106561404 1 NA NA 0 NA NA 1 4 NA 1 1 5.19E-10 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 7733408 A C RETN CCDS12182.1 r.? - - upstream 30 0 0 30 12 40 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.968243332 0.989414444 3 2.516346082 1.055367572 2.384331439 NA NA 1 NA NA 1 4 NA 1 1 1.94E-20 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 7764484 C T ENSG00000219545 ENST00000433511 r.? - - intronic 46 0 0 58 26 44.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.028423154 1.007105788 4 1.886513059 1.886513059 1 NA NA 1 NA NA 0 4 NA 1 1 2.83E-44 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 7867648 C A - - - - - - 16 0 0 16 8 50 9 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.496007984 1.496007984 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 7923976 C T - - - - - - 59 0 0 55 6 10.9 38 0 0 0 0 NA 0 0 NA 1 0 0 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.980129741 0.980129741 1 0 NA 0 NA NA 1 0 NA 0 NA NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 222978038 C A - - - - - - 52 0 0 51 5 9.8 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.587217565 0.587217565 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 7930494 C T - - - - - - 35 0 0 61 9 14.8 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.330818363 1.330818363 1 0.827418008 0.827418008 1 NA NA 1 NA NA 0 4 NA 1 1 2.68E-11 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 8030085 G A - - - - - - 61 0 0 38 25 65.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.626746507 1.313373253 2 2.254385965 1.127192982 2 NA NA 1 NA NA 1 4 NA 1 1 1.52E-48 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 8063234 A T PTPRM CCDS11840.1 r.? - - intronic 9 0 0 21 7 33.3 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 1.221491228 1.221491228 1 NA NA 0 NA NA 1 4 NA 1 1 8.54E-12 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 223174821 C A DISP1 CCDS1536.1 r.? - - intronic 51 0 0 38 15 39.5 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.366846307 1.183423154 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.24E-25 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 234624831 C T - - - - - - 32 0 0 50 16 32 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.91744511 0.958722555 2 0.700175439 0.700175439 1 NA NA 1 NA NA 1 4 NA 1 1 6.40E-25 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 238094424 G T - - - - - - 59 0 0 50 19 38 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.276966068 1.138483034 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 5.00E-31 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 8170074 A G - - - - - - 64 0 0 43 14 32.6 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.748162106 1.072784624 1.62955552 0.929982456 0.929982456 1 NA NA 0 NA NA 1 4 NA 1 1 4.18E-22 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 8204446 C G - - - - - - 35 0 0 28 12 42.9 34 12 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.71257485 0.856287425 2 3.661715649 1.220571883 3 NA NA 0 NA NA 1 4 NA 1 1 6.90E-21 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 8250812 C T - - - - - - 36 0 0 59 15 25.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.521972056 1.521972056 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 9.90E-22 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 8298610 A T - - - - - - 41 0 0 38 8 21.1 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.053315369 1.053315369 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.67E-11 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 8364550 G C - - - - - - 49 0 0 57 12 21.1 37 5 13.5 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.264315369 1.264315369 1 1.673770754 1.673770754 1 NA NA 0 0 0 1 4 NA 1 1 1.40E-16 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 8370544 C A - - - - - - 63 0 0 57 13 22.8 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.050179641 1.02508982 2 1.224578652 1.224578652 1 NA NA 1 NA NA 0 4 NA 1 1 2.44E-18 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 8383201 C T ENSG00000227978 ENST00000418307 r.? - - intronic 43 0 0 69 18 26.1 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 2.277050823 1.004130873 2.267683312 0.599199004 0.599199004 1 NA NA 0 NA NA 0 4 NA 1 1 5.16E-26 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 240840447 G T - - - - - - 36 0 0 40 8 20 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 0.721719298 0.721719298 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 245902221 C A - - - - - - 44 0 0 50 5 10 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 0.647872639 0.647872639 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 246732910 C G CNST CCDS1628.1 r.? - - intronic 57 0 0 73 31 42.5 50 9 18 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.753458715 1.107269545 2.486710421 1.938947368 0.969473684 2 NA NA 0 NA NA 1 4 NA 1 1 1.47E-51 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 8512626 C T - - - - - - 46 0 0 38 12 31.6 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.577477046 1.577477046 1 0.283385965 0.283385965 1 NA NA 1 NA NA 1 4 NA 1 1 5.86E-19 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 246805738 G T CNST CCDS1628.1 r.? - - intronic 35 0 0 42 13 31 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.008405181 1.00420259 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 8531333 T C - - - - - - 35 0 0 39 16 41 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.198608784 1.099304392 2 1.518578947 1.518578947 1 NA NA 0 NA NA 1 4 NA 1 1 5.16E-27 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 8545112 A C AL135912.1 ENST00000498984 r.? - - intronic 52 0 0 48 21 43.8 43 10 23.3 93 0 0 378 126 33.3 353 79 22.4 1.08E-79 TRUE TRUE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 2.727947196 1.219917244 2.236173977 2.884931511 0.961643837 3 2.073987252 1.036993626 2 2.773496388 0.924498796 3 4 3 1 1 9.35E-36 4.54E-188 1.61E-14 6.99E-103 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 248088457 C T OR2T8 CCDS31100.1 r.? - - downstream 35 0 0 54 23 42.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.759937442 1.109874885 2.486710421 2.208245614 1.104122807 2 NA NA 0 NA NA 1 4 NA 1 1 1.12E-38 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 8562635 G T PRAM1 CCDS45954.1 r.? - - intronic 18 0 0 37 16 43.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 3.205702799 0.934990941 3.428592363 3.926472388 1.160191447 3.384331439 NA NA 0 NA NA 0 4 NA 1 1 1.78E-27 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 8576978 C A RERE CCDS41243.1 r.? - - intronic 58 0 0 35 7 20 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 4.65E-10 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 8584946 C T GPR78 CCDS3403.1 r.? - - intronic 26 0 0 27 10 37 24 1 4.2 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.721893125 0.860946563 2 0.410421053 0.410421053 1 NA NA 0 NA NA 1 4 NA 1 1 7.62E-17 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 8612728 T C NXPH1 CCDS47540.1 r.? - - intronic 42 0 0 55 17 30.9 44 7 15.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.778532934 0.926177645 3 1.754126177 1.754126177 1 NA NA 1 NA NA 0 4 NA 1 1 4.35E-26 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 8648364 C T AL135912.1 ENST00000498984 r.? - - intronic 63 0 0 44 9 20.5 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.276778939 1.276778939 1 2.067740611 2.067740611 1 NA NA 0 NA NA 0 4 NA 1 1 1.18E-12 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 8659389 A G - - - - - - 6 0 0 15 5 33.3 6 4 66.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 6.517877193 2.172625731 3 NA NA 0 NA NA 1 4 NA 1 1 0.000000009 1 9.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 8705106 C G KIAA0802 ENST00000456698 r.? - - upstream 17 0 0 11 3 27.3 4 1 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 2.442982456 2.442982456 1 NA NA 0 NA NA 1 4 NA 1 1 0.00002 1 0.019850499 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 8736482 G T PLCB1 CCDS13103.1 r.? - - intronic 62 0 0 46 18 39.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.951878244 0.975939122 2 3.039651702 1.286720103 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 9.41E-30 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 8755426 C T ST5 CCDS7791.1 r.? - - intronic 46 0 0 55 10 18.2 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0.889245614 0.889245614 1 NA NA 1 NA NA 1 4 NA 1 1 2.33E-13 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 1032543 G A SNTG2 CCDS46220.1 r.? - - intronic 40 0 0 41 31 75.6 37 15 40.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.529964072 1.132491018 4 4.362631579 1.090657895 4 NA NA 1 NA NA 1 4 NA 1 1 4.97E-63 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 8847309 C T RERE CCDS41243.1 r.? - - intronic 32 0 0 39 20 51.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.560904192 1.280452096 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 6.00E-36 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 8863447 G C ABAT CCDS10534.1 r.? - - intronic 37 0 0 35 12 34.3 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.055261477 1.027630739 2 1.128245471 1.128245471 1 NA NA 0 NA NA 0 4 NA 1 1 1.83E-19 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 8935048 G A NTN1 CCDS11148.1 r.? - - intronic 38 0 0 24 6 25 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.998003992 0.998003992 1 0.394179022 0.394179022 1 NA NA 0 NA NA 1 4 NA 1 1 1.95E-09 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 8963551 C T CARHSP1 CCDS10537.1 r.? - - upstream 19 0 0 55 19 34.5 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.067245509 1.033622754 2 2.479660376 2.479660376 1 NA NA 0 NA NA 0 4 NA 1 1 4.51E-30 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 8972018 C T TMEM9B CCDS7796.1 r.? - - intronic 52 0 0 52 18 34.6 42 14 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.727237525 0.863618762 2 3.254052632 1.627026316 2 NA NA 1 NA NA 1 4 NA 1 1 1.39E-28 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 4456482 A G - - - - - - 60 0 0 51 20 39.2 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.348870259 1.17443513 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 6.38E-33 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 9065918 G A SEMA5A CCDS3875.1 r.? - - intronic 48 0 0 34 6 17.6 26 1 3.8 1 0 0 0 0 NA 3 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.70259481 0.70259481 1 0.333333333 0.333333333 1 NA NA 1 0 0 1 4 NA 1 1 1.86E-08 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 9073478 G A - - - - - - 53 0 0 50 12 24 33 10 30.3 112 0 0 263 77 29.3 204 28 13.7 3.99E-23 TRUE TRUE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.158083832 1.079041916 2 3.342768753 1.478898175 2.260310284 2.634660679 0.878220226 3 1.511416895 1.199241896 1.260310284 4 3 1 1 2.49E-17 1.63E-110 8.14E-16 3.49E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 4 9091000 G A - - - - - - 28 0 0 42 6 14.3 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.665488424 0.665488424 1 1.68077193 1.68077193 1 NA NA 0 NA NA 1 4 NA 1 1 7.02E-08 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 9110996 T A - - - - - - 37 0 0 41 4 9.8 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.587217565 0.587217565 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0000546 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 5201516 G T - - - - - - 51 0 0 58 14 24.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.444075848 1.444075848 1 1.637333333 1.637333333 1 NA NA 1 NA NA 1 4 NA 1 1 5.04E-20 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 9151019 C T - - - - - - 31 0 0 65 21 32.3 35 7 20 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.904421158 0.968140386 3 2.206448022 0.976170412 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 2.35E-32 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 9179298 G C DENND5A CCDS31423.1 r.? - - intronic 56 0 0 58 10 17.2 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.858626747 0.858626747 1 0.54722807 0.54722807 1 NA NA 1 NA NA 1 4 NA 1 1 4.10E-13 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 9279430 G A PLCB4 CCDS13104.1 r.? - - intronic 62 0 0 42 20 47.6 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.376199601 1.1880998 2 1.859420638 1.859420638 1 NA NA 0 NA NA 0 4 NA 1 1 4.41E-35 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 9331067 C T - - - - - - 53 0 0 62 18 29 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.607684631 0.86922821 3 1.886513059 1.886513059 1 NA NA 1 NA NA 0 4 NA 1 1 5.72E-27 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 9339103 C T - - - - - - 45 0 0 44 9 20.5 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.521224708 1.521224708 1 0.814469505 0.814469505 1 NA NA 0 NA NA 0 4 NA 1 1 1.18E-12 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 9365299 T C - - - - - - 62 0 0 61 7 11.5 44 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 0.716241844 0.716241844 1 0.284778647 0.284778647 1 NA NA 0 NA NA 1 4 NA 1 1 2.69E-08 1 0.197923942 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 17492119 C A - - - - - - 44 0 0 55 17 30.9 30 5 16.7 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.851532934 0.925766467 2 1.798912281 1.798912281 1 NA NA 1 0 0 1 4 NA 1 1 4.35E-26 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 9492411 C A - - - - - - 46 0 0 45 17 37.8 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.398982036 1.132994012 3 1.423158974 1.423158974 1 NA NA 1 NA NA 0 4 NA 1 1 7.37E-28 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 9494015 T A C20orf103 CCDS13106.1 r.? - - upstream 52 0 0 39 6 15.4 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.768770459 0.768770459 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 24226284 A G UBXN2A CCDS1704.1 r.4571a>g c.? p.? 3'UTR variant 41 0 0 37 26 70.3 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.212387226 1.053096806 4 4.90122807 1.225307018 4 NA NA 1 NA NA 1 4 NA 1 1 1.21E-51 1 1.50E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 9536263 T C RALBP1 CCDS11845.1 r.2519u>c c.? p.? 3'UTR variant 22 0 0 42 22 52.4 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.091816367 1.045908184 2 1.954385965 1.954385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.11E-39 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 9542165 G T PAK7 CCDS13107.1 r.? - - intronic 61 0 0 39 6 15.4 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.768770459 0.768770459 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 9565571 C G - - - - - - 33 0 0 26 9 34.6 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.381237525 1.381237525 1 0.798245614 0.798245614 1 NA NA 1 NA NA 1 4 NA 1 1 5.65E-15 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 9586324 C A - - - - - - 34 0 0 39 12 30.8 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.229540918 1.229540918 1 0.219298246 0.219298246 1 NA NA 1 NA NA 1 4 NA 1 1 8.43E-19 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 28676992 G T PLB1 ENST00000416713 r.? - - upstream 16 0 0 51 35 68.6 27 10 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.110522954 1.027630739 4 3.985614035 0.996403509 4 NA NA 1 NA NA 1 4 NA 1 1 1.93E-68 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34330475 G A - - - - - - 56 0 0 66 23 34.8 62 7 11.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.781221557 0.927073852 3 1.44322807 1.44322807 1 NA NA 1 NA NA 1 4 NA 1 1 3.38E-36 1 3.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 9701559 G A PAK7 CCDS13107.1 r.? - - intronic 46 0 0 44 6 13.6 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.678914172 0.678914172 1 2.549744468 1.079336643 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 9.37E-08 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 9734422 G T - - - - - - 43 0 0 40 7 17.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.698602794 0.698602794 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.26E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 9741847 G T - - - - - - 53 0 0 50 15 30 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.79760479 0.898802395 2 0.731499811 0.731499811 1 NA NA 0 NA NA 1 4 NA 1 1 5.83E-23 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 9794064 G A PTPRD CCDS43786.1 r.? - - intronic 50 0 0 27 9 33.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.996341317 0.996341317 1 0.917087719 0.917087719 1 NA NA 1 NA NA 1 4 NA 1 1 8.44E-15 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 9795625 C A PTPRD CCDS43786.1 r.? - - intronic 42 0 0 25 11 44 16 3 18.8 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.316487026 1.316487026 1 1.461122807 1.461122807 1 0 0 1 NA NA 1 4 NA 1 1 2.04E-19 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 9859705 T C GRIN2A CCDS10539.1 r.? - - intronic 59 0 0 42 11 26.2 54 6 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.569908184 1.569908184 1 1.376211509 1.376211509 1 NA NA 0 NA NA 0 4 NA 1 1 1.81E-16 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34845972 A G - - - - - - 51 0 0 87 11 12.6 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.006994012 1.006994012 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.65E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 36234659 G T - - - - - - 45 0 0 58 9 15.5 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.238762475 1.238762475 1 1.392140351 1.392140351 1 NA NA 1 NA NA 1 4 NA 1 1 1.67E-11 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 10042112 A T - - - - - - 49 0 0 37 9 24.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.97005988 0.97005988 1 1.182403509 1.182403509 1 NA NA 0 NA NA 1 4 NA 1 1 2.14E-13 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 10056430 C T - - - - - - 51 0 0 34 6 17.6 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.87859481 0.87859481 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 39687489 G T - - - - - - 52 0 0 67 18 26.9 50 7 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.149852295 1.074926148 2 1.788070175 1.788070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.83E-26 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 40080973 C T - - - - - - 50 0 0 75 11 14.7 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.174826347 1.174826347 1 0.855719298 0.855719298 1 NA NA 1 NA NA 1 4 NA 1 1 1.78E-13 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 10119374 G A GRIN2A CCDS10539.1 r.? - - intronic 32 0 0 43 9 20.9 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.252331337 1.252331337 1 1.215033584 1.215033584 1 NA NA 0 NA NA 1 4 NA 1 1 9.45E-13 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 10125726 G T FANCD2 CCDS2595.1 r.? - - intronic 19 0 0 48 9 18.8 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.008142564 1.008142564 1 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 2.75E-12 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 40762399 G T SLC8A1 CCDS46264.1 r.? - - intronic 53 0 0 63 4 6.3 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.503497006 0.503497006 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000294233 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 10281459 G C - - - - - - 46 0 0 38 6 15.8 43 3 7 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.630738523 0.630738523 1 0.684035088 0.684035088 1 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 10281791 G C - - - - - - 34 0 0 31 7 22.6 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.902195609 0.902195609 1 0.918561404 0.918561404 1 NA NA 0 NA NA 1 4 NA 1 1 1.85E-10 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 10282111 G T - - - - - - 45 0 0 23 6 26.1 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.041916168 1.041916168 1 1.13354386 1.13354386 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-09 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 10282484 G C - - - - - - 48 0 0 28 6 21.4 53 7 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 1.289894737 1.289894737 1 NA NA 0 NA NA 1 4 NA 1 1 5.36E-09 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 10343506 A T - - - - - - 49 0 0 101 12 11.9 48 4 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 12.69145318 14 10 11 2 3 0.308546822 1 10 NA 3 NA 0.691453178 NA 1.747332828 0.873666414 2 1.724070175 1.724070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.93E-13 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 10419460 G A - - - - - - 45 0 0 52 18 34.6 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.073237525 1.036618762 2 1.90933849 1.90933849 1 NA NA 0 NA NA 0 4 NA 1 1 1.39E-28 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 10484493 A G - - - - - - 105 0 0 73 11 15.1 65 4 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 1.087714893 1.087714893 1 0.791859649 0.791859649 1 NA NA 0 NA NA 0 4 NA 1 1 1.31E-13 1 0.000331785 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 10485469 A T AC009945.1 ENST00000510654 r.? - - downstream 60 0 0 58 5 8.6 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.773313373 0.773313373 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000115 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 10488961 A G CLNK CCDS47024.1 r.4657u>c c.? p.? 3'UTR variant 43 0 0 39 11 28.2 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.312361787 1.312361787 1 1.299666667 1.299666667 1 NA NA 0 NA NA 1 4 NA 1 1 7.20E-17 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 43948310 C A PLEKHH2 CCDS1812.1 r.? - - intronic 42 0 0 62 14 22.6 57 11 19.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.806195609 0.903097804 2 2.464982456 0.821660819 3 NA NA 1 NA NA 1 4 NA 1 1 1.42E-19 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 10503584 C G ATF7IP2 CCDS10540.1 r.? - - intronic 29 0 0 47 9 19.1 37 0 0 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.14447505 1.14447505 1 0 0 1 0 NA 0 NA NA 0 3 NA 1 1 2.24E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 44562185 C A PREPL CCDS33190.1 r.? - - intronic 36 0 0 44 8 18.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.454546906 1.454546906 1 1.941333333 1.941333333 1 NA NA 1 NA NA 1 4 NA 1 1 5.90E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 10535258 C A DFFA CCDS118.1 r.? - - upstream 15 0 0 18 8 44.4 2 2 100 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.21645509 1.108227545 2 11.77192982 3.923976608 3 NA NA 0 NA NA 1 4 NA 1 1 1.63E-14 1 0.000025 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 10543075 G A NAPG CCDS45827.1 r.? - - intronic 51 0 0 37 10 27 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.077844311 1.077844311 1 3.127017544 1.042339181 3 NA NA 0 NA NA 1 4 NA 1 1 3.01E-15 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 48186294 G A - - - - - - 78 0 0 66 37 56.1 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.483520958 1.12088024 4 3.588912281 0.89722807 4 NA NA 1 NA NA 1 4 NA 1 1 2.83E-67 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 10588524 C T MID1 CCDS14138.1 r.151g>a c.? p.? 5'UTR variant 16 0 0 73 7 9.6 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.837535935 0.837535935 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 9.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 10616852 G C - - - - - - 119 0 0 91 9 9.9 87 2 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 0.713137579 0.713137579 1 0.293754386 0.293754386 1 NA NA 0 NA NA 0 4 NA 1 1 1.06E-09 1 0.070774795 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 10640991 G A SOX7 CCDS47801.1 r.? - - intronic 46 0 0 17 7 41.2 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.232710579 1.232710579 1 0.666897394 0.666897394 1 NA NA 0 NA NA 0 4 NA 1 1 1.45E-12 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 10694839 C G - - - - - - 55 0 0 27 7 25.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.033932136 1.033932136 1 1.887910051 1.887910051 1 NA NA 0 NA NA 1 4 NA 1 1 6.36E-11 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 114155568 A G MAGI3 CCDS860.1 r.? - - intronic 54 0 0 50 19 38 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.896966068 0.948483034 2 2.495649123 0.831883041 3 NA NA 0 NA NA 1 4 NA 1 1 5.00E-31 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 10823635 C A QTRT1 CCDS12248.1 r.1003c>a c.978C>A p.S326R missense 11 0 0 32 7 21.9 6 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.625113225 1.625113225 1 0 0 1 NA NA 0 NA NA 0 4 NA 1 1 2.36E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 10881116 T C - - - - - - 56 0 0 48 27 56.2 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.805512974 1.402756487 2 3.49615617 1.479963781 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 1.50E-49 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 10936108 G C TPTE CCDS33512.1 r.? - - intronic 89 0 0 74 5 6.8 50 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 0.489831872 0.489831872 1 0 0 1 NA NA 0 0 NA 0 3 NA 1 1 0.0000378 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 49199580 G T FSHR CCDS1843.1 r.? - - intronic 53 0 0 62 19 30.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.445556886 0.815185629 3 2.694877193 0.898292398 3 NA NA 1 NA NA 1 4 NA 1 1 6.66E-29 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 10994762 G T TPTE CCDS33512.1 r.? - - upstream 69 0 0 64 8 12.5 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 0.900426236 0.900426236 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 1.35E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 11014305 G A - - - - - - 44 0 0 43 21 48.8 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.616880699 1.308440349 2 3.484491228 1.161497076 3 NA NA 0 NA NA 1 4 NA 1 1 4.52E-37 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 11027247 G A - - - - - - 36 0 0 22 7 31.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.269461078 1.269461078 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.25E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 11033135 C T - - - - - - 59 0 0 38 12 31.6 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.261477046 1.261477046 1 0.342313361 0.342313361 1 NA NA 0 NA NA 0 4 NA 1 1 5.86E-19 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 11124883 A G PHF14 CCDS47542.1 r.? - - intronic 42 0 0 50 21 42 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.776646707 0.944161677 4 2.846317948 1.259259832 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 2.79E-35 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 11218849 G C - - - - - - 29 0 0 38 9 23.7 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.420107784 1.420107784 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.79E-13 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 11283345 C T FAM167A CCDS5981.1 r.? - - intronic 42 0 0 28 5 17.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.535570858 0.535570858 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000279 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 49909862 G T - - - - - - 40 0 0 55 5 9.1 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.727273453 0.727273453 1 0.293754386 0.293754386 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000883 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 11340922 A C ATG7 CCDS2605.1 r.? - - intronic 52 0 0 41 11 26.8 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.4371394 1.4371394 1 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 1.34E-16 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 11344075 T A ATG7 CCDS2605.1 r.? - - intronic 56 1 1.8 40 10 25 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.340615112 1.340615112 1 0 0 1 NA NA 0 NA NA 1 3 NA 0.244746891 1 7.22E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 11358770 G A UBIAD1 ENST00000376804 r.? - - downstream 29 0 0 26 14 53.8 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.685704591 1.342852295 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 5.57E-26 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 11361824 A G - - - - - - 29 1 3.4 33 16 48.5 23 6 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.421127745 1.210563872 2 2.550473684 1.275236842 2 NA NA 1 NA NA 1 4 NA 0.135292269 1 1.64E-28 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 11418465 G T - - - - - - 53 0 0 49 9 18.4 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.918530938 0.918530938 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.35E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52202395 C T - - - - - - 58 0 0 61 6 9.8 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.783217565 0.783217565 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000685 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 11509170 C G DNAH9 CCDS11160.1 r.? - - intronic 50 0 0 31 16 51.6 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.05988024 1.02994012 2 3.049700852 1.016566951 3 NA NA 0 NA NA 0 4 NA 1 1 4.27E-29 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 11513732 C T - - - - - - 41 0 0 46 7 15.2 35 2 5.7 1 0 0 0 0 NA 2 0 0 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.955454384 0.955454384 1 0.6987335 0.6987335 1 NA NA 0 0 NA 0 4 NA 1 1 3.53E-09 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 11538536 C T PTCHD2 CCDS41247.1 r.? - - upstream 4 0 0 28 6 21.4 12 2 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.068291417 1.068291417 1 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.36E-09 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 11545052 G T GALNTL4 CCDS7807.1 r.? - - intronic 37 0 0 43 6 14 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3 2 2 2 1 1 1 NA NA NA NA NA NA 0.838882236 0.838882236 1 0.947877193 0.947877193 1 NA NA 1 NA NA 0 4 NA 1 1 8.13E-08 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 11595868 A G DNAH9 CCDS11160.1 r.? - - intronic 44 0 0 30 7 23.3 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.930139721 0.930139721 1 2.489551716 1.037833138 2.398797674 NA NA 0 NA NA 1 4 NA 1 1 1.44E-10 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11628018 G A ARHGAP6 CCDS14140.1 r.? - - intronic 39 0 0 49 10 20.4 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.779763862 0.889881931 2 1.198398008 1.198398008 1 NA NA 0 NA NA 0 4 NA 1 1 6.72E-14 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 11656165 C A - - - - - - 32 0 0 46 15 32.6 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.627397206 0.813698603 2 1.859964912 1.859964912 1 NA NA 0 NA NA 1 4 NA 1 1 1.35E-23 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 11677486 G A - - - - - - 22 0 0 19 6 31.6 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.344912233 0.965543773 2.428592363 1.434438829 1.434438829 1 NA NA 1 NA NA 1 4 NA 1 1 4.01E-10 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11682122 C G ARHGAP6 CCDS14140.1 r.? - - intronic 24 0 0 58 6 10.3 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.898606264 0.898606264 1 0.321792058 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000506 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11682300 C T ARHGAP6 CCDS14140.1 r.? - - intronic 15 0 0 66 5 7.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.663049282 0.663049282 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000217 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11682363 C T ARHGAP6 CCDS14140.1 r.1459g>a c.586G>A p.E196K missense 13 0 0 74 8 10.8 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.942227927 0.942227927 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 4.39E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11682467 C A ARHGAP6 CCDS14140.1 r.1355g>u c.482G>T p.G161V missense 14 0 0 68 6 8.8 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.767741274 0.767741274 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000131 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11682515 C T ARHGAP6 CCDS14140.1 r.1307g>a c.434G>A p.G145E missense 15 0 0 71 6 8.5 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.741568276 0.741568276 1 0.743450616 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000169 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52263782 C T - - - - - - 65 0 0 69 10 14.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.158842315 1.158842315 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.54E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 11725383 C A - - - - - - 30 0 0 29 4 13.8 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.550898204 0.550898204 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52982484 G C - - - - - - 60 0 0 78 18 23.1 43 2 4.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.846155689 0.923077844 2 0.600280702 0.600280702 1 NA NA 1 NA NA 1 4 NA 1 1 6.10E-25 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 11758331 C A SNN CCDS10549.1 r.? - - upstream 33 0 0 39 5 12.8 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.766978044 0.766978044 1 1.165440377 1.165440377 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000156 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 11803397 A G ECHDC3 CCDS7084.1 r.? - - intronic 18 0 0 42 14 33.3 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 1.99122807 1.99122807 1 NA NA 1 NA NA 1 4 NA 1 1 2.83E-22 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 11844305 A C - - - - - - 62 0 0 56 5 8.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.559443685 0.559443685 1 1.667153615 1.667153615 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000965 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 11845357 A G - - - - - - 55 0 0 52 6 11.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3 2 2 2 1 1 1 NA NA NA NA NA NA 0.689081836 0.689081836 1 1.055368421 1.055368421 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000261 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 11846708 C T ZC3H7A CCDS10550.1 r.? - - intronic 51 0 0 45 13 28.9 35 1 2.9 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.731692615 0.865846307 2 0.359550755 0.359550755 1 NA NA 0 0 0 1 4 NA 1 1 7.68E-20 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 11891870 C G LPIN1 CCDS1682.1 r.? - - intronic 19 0 0 47 15 31.9 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.911453094 0.955726547 2 2.585263158 0.861754386 3 NA NA 1 NA NA 1 4 NA 1 1 1.97E-23 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 11910441 G A BTBD3 CCDS13113.1 r.? - - downstream 44 0 0 33 16 48.5 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.421127745 1.210563872 2 2.594281489 1.098189685 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 1.64E-28 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 11946957 T A ZNF440 CCDS42503.1 r.? - - downstream 49 0 0 31 8 25.8 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.914516949 0.957258475 2 0.29175027 0.29175027 1 NA NA 1 NA NA 1 4 NA 1 1 2.78E-12 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 11990424 C T - - - - - - 37 0 0 59 11 18.6 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.67251497 1.67251497 1 0.816385768 0.816385768 1 NA NA 1 NA NA 0 4 NA 1 1 1.10E-14 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 12007332 G T - - - - - - 25 0 0 34 6 17.6 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.943793039 0.943793039 1 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.86E-08 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 53950794 G A ASB3 CCDS1847.1 r.? - - intronic 56 0 0 69 8 11.6 58 6 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.927073852 0.927073852 1 1.315508772 1.315508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.49E-09 1 0.000000506 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 12126149 C T - - - - - - 42 0 0 56 7 12.5 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.090541582 1.090541582 1 1.464708677 1.464708677 1 NA NA 0 NA NA 0 4 NA 1 1 1.46E-08 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 12141330 T G SYN2 ENST00000341648 r.? - - intronic 21 0 0 49 4 8.2 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.439721757 1.187011227 0.37044448 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 12170531 G T - - - - - - 25 0 0 39 6 15.4 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.968026152 0.968026152 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 12204322 G A TIMP4 CCDS2608.1 r.? - - upstream 23 0 0 67 19 28.4 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.522938767 0.934573108 1.62955552 1.765789474 1.765789474 1 NA NA 0 NA NA 1 4 NA 1 1 3.67E-28 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 12225147 A G FRMPD4 CCDS35201.1 r.? - - intronic 54 0 0 60 10 16.7 48 11 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.456963554 1.456963554 1 2.541047629 1.093230272 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 5.86E-13 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 12231869 G C - - - - - - 43 0 0 54 15 27.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.665780439 0.83289022 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.20E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 54065011 G T ASB3 ENST00000406625 r.? - - intronic 27 0 0 63 11 17.5 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.398602794 1.398602794 1 1.213333333 1.213333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.37E-14 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 12257452 G A FRMPD4 CCDS35201.1 r.? - - intronic 51 0 0 58 8 13.8 47 10 21.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.203957906 1.203957906 1 2.363507183 1.016847371 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 5.99E-10 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 12291817 G A EDN1 CCDS4522.1 r.? - - intronic 37 0 0 48 10 20.8 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.307463893 1.307463893 1 0.441305369 0.441305369 1 NA NA 0 NA NA 1 4 NA 1 1 5.37E-14 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 62047637 T C FAM161A CCDS42687.2 r.? - - downstream 50 0 0 91 14 15.4 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.230770459 1.230770459 1 2.017964912 2.017964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.55E-17 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 12405626 G C ZNF44 CCDS45988.1 r.77c>g c.? p.? 5'UTR variant 16 0 0 31 10 32.3 8 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.396856491 0.986932401 2.428592363 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 12430103 A G PPARG CCDS2610.2 r.? - - intronic 67 0 0 56 7 12.5 37 0 0 130 0 0 270 27 10 278 0 0 1 TRUE TRUE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.670307556 0.670307556 1 0 0 1 0.536246045 1.447574668 0.37044448 0 0 1 3 2 1 1 1.46E-08 2.45E-26 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 6 12483990 T C - - - - - - 56 0 0 57 11 19.3 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.213175632 1.213175632 1 1.287140658 1.287140658 1 NA NA 0 NA NA 1 4 NA 1 1 7.29E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 12491511 G C - - - - - - 52 0 0 53 23 43.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.90253493 0.975633733 4 2.360899383 1.044502341 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 6.43E-39 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 12517558 C T - - - - - - 14 0 0 37 14 37.8 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.804989949 0.93499665 3 1.872064235 1.872064235 1 NA NA 0 NA NA 0 4 NA 1 1 3.35E-23 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 12568722 G A - - - - - - 58 0 0 38 5 13.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.526946108 0.526946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 12612606 A G SPIRE1 CCDS45829.1 r.? - - intronic 49 0 0 33 19 57.6 32 12 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.299401198 1.149700599 2 3.664473684 1.221491228 3 NA NA 0 NA NA 1 4 NA 1 1 1.46E-35 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 12637782 A T - - - - - - 47 0 0 26 11 42.3 27 6 22.2 132 0 0 130 54 41.5 164 32 19.5 3.09E-31 TRUE TRUE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.968542681 0.984271341 2 2.169368421 1.084684211 2 1.931312559 0.96565628 2 1.905526316 0.952763158 2 4 3 1 1 3.52E-19 5.67E-88 4.23E-09 1.37E-40 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 16 12664126 C T SNX29 CCDS45416.1 r.2983c>u c.? p.? 3'UTR variant 39 0 0 45 17 37.8 36 6 16.7 198 0 0 39 12 30.8 23 4 17.4 7.61E-05 TRUE TRUE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.264982036 1.132491018 2 2.070516414 2.070516414 1 1.845540918 0.922770459 2 2.157304527 2.157304527 1 4 3 1 1 7.37E-28 8.43E-19 2.68E-08 0.00000513 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 12664229 C A - - - - - - 48 0 0 48 7 14.6 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.728834331 0.728834331 1 1.084684211 1.084684211 1 NA NA 1 NA NA 1 4 NA 1 1 4.81E-09 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 12746034 T C TEAD1 CCDS7810.1 r.? - - intronic 29 0 0 49 11 22.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.118211577 1.118211577 1 1.348526316 1.348526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.19E-15 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 64467833 G A - - - - - - 48 0 0 54 5 9.3 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.743257485 0.743257485 1 0.510877193 0.510877193 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000806 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 68187095 G T - - - - - - 58 0 0 45 14 31.1 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.863516966 0.931758483 2 2.423684211 1.211842105 2 NA NA 1 NA NA 1 4 NA 1 1 8.81E-22 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 12752646 C T CPPED1 CCDS42120.1 r.? - - downstream 42 0 0 53 16 30.2 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.809588822 0.904794411 2 3.595507545 1.198502515 3 NA NA 0 NA NA 0 4 NA 1 1 1.90E-24 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 12775175 A G - - - - - - 50 0 0 31 13 41.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.672654691 0.836327345 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.32E-22 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 12793460 G A CAMK1D CCDS7091.1 r.? - - intronic 40 0 0 37 23 62.2 19 5 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.483033932 1.241516966 2 2.307017544 1.153508772 2 NA NA 1 NA NA 1 4 NA 1 1 6.81E-44 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 12809320 A T PHACTR1 ENST00000379350 r.? - - intronic 41 0 0 55 21 38.2 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.401207727 1.046794143 2.293868134 3.13817151 1.04605717 3 NA NA 0 NA NA 1 4 NA 1 1 3.41E-34 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 12835488 T C - - - - - - 51 0 0 52 23 44.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.206471058 1.103235529 2 2.349327872 0.994497955 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 3.66E-39 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 12879158 C A ENSG00000250305 ENST00000503976 r.970c>a c.970C>A p.L324M missense 38 0 0 18 5 27.8 28 7 25 204 0 0 59 12 20.3 97 5 5.2 0.003010925 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.831780439 0.831780439 1 2.348230261 1.17411513 2 0.607379242 0.607379242 1 0.488431894 0.488431894 1 4 3 1 1 2.54E-08 2.20E-16 8.44E-11 0.000137452 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 12880330 A G - - - - - - 55 0 0 26 15 57.7 46 11 23.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.303393214 1.151696607 2 2.096491228 1.048245614 2 NA NA 1 NA NA 1 4 NA 1 1 2.24E-28 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 12936512 T G PRAMEF23 CCDS30592.1 r.? - - downstream 50 0 0 58 4 6.9 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.344449102 0.344449102 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000213772 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 12953405 T C - - - - - - 35 0 0 32 5 15.6 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.778754491 0.778754491 1 0.267222128 0.267222128 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000562 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 69051596 C T ARHGAP25 CCDS46312.1 r.? - - intronic 34 0 0 48 15 31.2 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 1.378807018 1.378807018 1 NA NA 1 NA NA 1 4 NA 1 1 2.86E-23 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 13089967 C A IQSEC1 ENST00000435445 r.? - - intronic 14 0 0 37 8 21.6 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.158291457 1.158291457 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 1.33E-11 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 70195901 G C - - - - - - 18 0 0 35 11 31.4 11 2 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.881493014 0.940746507 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-17 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 13126166 G A - - - - - - 31 0 0 40 6 15 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.804369067 0.804369067 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 72521324 G A EXOC6B CCDS46333.1 r.? - - intronic 44 0 0 39 13 33.3 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 0.926385965 0.926385965 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 13187944 C T DLC1 CCDS5989.1 r.? - - intronic 49 0 0 20 5 25 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.748003992 0.748003992 1 1.681332867 1.681332867 1 NA NA 0 NA NA 0 4 NA 1 1 4.55E-08 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13190046 G C SHISA9 CCDS45417.1 r.? - - intronic 55 0 0 51 11 21.6 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.294275449 1.294275449 1 1.376211509 1.376211509 1 NA NA 0 NA NA 0 4 NA 1 1 1.94E-15 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 72567195 G A EXOC6B CCDS46333.1 r.? - - intronic 39 0 0 48 8 16.7 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.23E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b Y 13267426 C G - - - - - - 24 0 0 20 4 20 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.00000284 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 73736276 C T ALMS1 CCDS42697.1 r.? - - intronic 45 0 0 54 20 37 36 6 16.7 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.217045908 1.108522954 2 1.798912281 1.798912281 1 NA NA 1 0 0 1 4 NA 1 1 2.61E-32 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 13292556 C T - - - - - - 49 0 0 29 14 48.3 32 7 21.9 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.928143713 0.964071856 2 2.271715941 0.947022738 2.398797674 0 NA 0 NA NA 0 4 NA 1 1 4.41E-25 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 13301096 T C - - - - - - 38 0 0 50 19 38 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.896966068 0.948483034 2 2.061877193 1.030938596 2 NA NA 1 NA NA 1 4 NA 1 1 5.00E-31 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 13373151 C A NUP210 CCDS33704.1 r.? - - intronic 42 0 0 58 20 34.5 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.850048855 0.925024427 2 4.061315789 1.35377193 3 NA NA 0 NA NA 1 4 NA 1 1 1.47E-31 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 175059615 C A TNN CCDS30943.1 r.? - - intronic 34 0 0 47 15 31.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.911453094 0.955726547 2 2.531403509 1.265701754 2 NA NA 1 NA NA 1 4 NA 1 1 1.97E-23 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 13467970 A T - - - - - - 52 0 0 64 18 28.1 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.683756487 0.841878244 2 3.382385965 1.127461988 3 NA NA 1 NA NA 1 4 NA 1 1 1.10E-26 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 13535394 C T CACNA1A CCDS45998.1 r.? - - intronic 25 0 0 31 14 45.2 15 6 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 2.414759776 0.911358353 2.649627084 4.862504505 1.436769593 3.384331439 NA NA 0 NA NA 1 4 NA 1 1 1.49E-24 1 7.52E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 13560989 T A - - - - - - 50 0 0 51 14 27.5 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.647804391 0.823902196 2 1.615789474 1.615789474 1 NA NA 1 NA NA 1 4 NA 1 1 6.64E-21 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 74973960 C T - - - - - - 45 0 0 49 17 34.7 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.079229541 1.03961477 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 4.26E-27 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 13575238 C T - - - - - - 29 0 0 28 11 39.3 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.568862275 1.568862275 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 9.70E-19 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 13588962 G A - - - - - - 66 0 0 15 8 53.3 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.594744511 1.594744511 1 1.108364683 1.108364683 1 NA NA 0 NA NA 0 4 NA 1 1 2.44E-15 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 13590403 G C TASP1 CCDS13116.1 r.? - - intronic 45 0 0 42 6 14.3 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.713858283 0.713858283 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13596222 C T - - - - - - 35 0 0 26 15 57.7 28 4 14.3 210 0 0 358 79 22.1 575 87 15.1 4.82E-72 TRUE TRUE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.457393214 1.728696607 2 1.772957169 1.772957169 1 1.324235529 1.324235529 1 1.872143584 0.936071792 2 4 3 1 1 2.24E-28 2.39E-102 0.0000116 3.54E-97 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 12 13620952 T C - - - - - - 52 0 0 40 12 30 52 3 5.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.49760479 1.49760479 1 0.56677193 0.56677193 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-18 1 0.002300591 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 13623432 C T - - - - - - 47 0 0 35 15 42.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.14157485 1.070787425 2 2.276859649 1.138429825 2 NA NA 1 NA NA 1 4 NA 1 1 9.02E-26 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 13657675 C T - - - - - - 43 0 0 39 13 33.3 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 2.79477193 1.397385965 2 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13660128 G A - - - - - - 53 0 0 50 8 16 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.958722555 0.958722555 1 1.84734698 1.84734698 1 NA NA 0 NA NA 0 4 NA 1 1 1.74E-10 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 13666034 C G - - - - - - 56 0 0 39 7 17.9 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.714570858 0.714570858 1 0.438596491 0.438596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-09 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 13743508 T C GRIN2B CCDS8662.1 r.? - - intronic 42 0 0 42 11 26.2 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.307908184 1.307908184 1 0.840385965 0.840385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.81E-16 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13749632 G T - - - - - - 65 0 0 52 11 21.2 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.270307385 1.270307385 1 1.004262452 1.004262452 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-15 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 13750869 C A FRMD4A CCDS7101.1 r.? - - intronic 40 0 0 22 10 45.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.816367265 0.908183633 2 1.921052632 1.921052632 1 NA NA 1 NA NA 1 4 NA 1 1 5.98E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 13794745 G A DNAH5 CCDS3882.1 r.? - - intronic 48 0 0 38 19 50 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.16E-34 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 13803323 C T CCDC90A CCDS35495.1 r.? - - intronic 26 0 0 55 17 30.9 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.942338188 0.971169094 2 1.262623693 1.262623693 1 NA NA 0 NA NA 0 4 NA 1 1 4.35E-26 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 13826109 G C - - - - - - 58 0 0 55 15 27.3 52 11 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.71604636 0.85802318 2 2.598798282 1.03395771 2.513447365 NA NA 0 NA NA 0 4 NA 1 1 3.01E-22 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 198636381 C T PTPRC CCDS1397.1 r.? - - intronic 47 0 0 48 5 10.4 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.623169661 0.623169661 1 0.409333333 0.409333333 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000447 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 13893452 C A GPM6B CCDS48084.1 r.? - - intronic 43 0 0 64 8 12.5 51 4 7.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.090541582 1.090541582 1 0.865509673 0.865509673 1 NA NA 0 NA NA 0 4 NA 1 1 1.35E-09 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 202061910 G A - - - - - - 32 0 0 48 7 14.6 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.874834331 0.874834331 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13954318 C A - - - - - - 33 0 0 47 19 40.4 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.420774451 1.210387226 2 1.90933849 1.90933849 1 NA NA 0 NA NA 1 4 NA 1 1 1.16E-31 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 13991502 T A SGCZ CCDS5992.2 r.? - - intronic 42 0 0 25 8 32 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.95744511 0.95744511 1 1.277437262 1.277437262 1 NA NA 0 NA NA 0 4 NA 1 1 3.92E-13 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 77055062 G T LRRTM4 CCDS46346.1 r.? - - intronic 55 0 0 57 24 42.1 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.522638723 1.261319361 2 2.423684211 1.211842105 2 NA NA 1 NA NA 1 4 NA 1 1 3.83E-40 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 14010270 G C - - - - - - 29 0 0 19 10 52.6 10 1 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.099800399 1.0499002 2 0.977192982 0.977192982 1 NA NA 0 NA NA 1 4 NA 1 1 8.66E-19 1 0.04888987 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 14012956 G A COX10 CCDS11166.1 r.? - - intronic 42 0 0 22 7 31.8 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.269461078 1.269461078 1 0.446044682 0.446044682 1 NA NA 0 NA NA 1 4 NA 1 1 1.25E-11 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 14018084 A G - - - - - - 45 0 0 39 6 15.4 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.768770459 0.768770459 1 0.635684211 0.635684211 1 NA NA 0 NA NA 1 4 NA 1 1 4.43E-08 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 79155939 G A - - - - - - 40 0 0 28 4 14.3 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 206573101 G A SRGAP2 ENST00000367123 r.? - - intronic 12 0 0 16 7 43.8 8 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.624502994 1.312251497 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 8.59E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 14231110 G T ASF1B CCDS12306.1 r.1270c>a c.? p.? 3'UTR variant 25 0 0 28 18 64.3 22 6 27.3 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 3.435156052 1.145052017 3 3.318659325 0.980595248 3.384331439 0 NA 0 NA NA 1 4 NA 1 1 4.77E-35 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 14272795 G T - - - - - - 54 0 0 38 6 15.8 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.788738523 0.788738523 1 0.977192982 0.977192982 1 NA NA 1 NA NA 1 4 NA 1 1 3.76E-08 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 14280279 T C - - - - - - 52 0 0 43 16 37.2 44 13 29.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.22902994 1.11451497 2 3.177719298 1.059239766 3 NA NA 1 NA NA 1 4 NA 1 1 3.56E-26 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 14350935 C T - - - - - - 39 0 0 26 16 61.5 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.45508982 1.22754491 2 1.954385965 1.954385965 1 NA NA 0 NA NA 1 4 NA 1 1 7.73E-31 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 14351830 A G - - - - - - 52 0 0 36 14 38.9 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.941894212 0.970947106 2 2.013017544 1.006508772 2 NA NA 1 NA NA 1 4 NA 1 1 2.09E-23 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 14366231 G T TRIO CCDS3883.1 r.? - - intronic 56 0 0 50 30 60 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 1.850877193 1.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 3.98E-56 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 14369165 A G SGCZ CCDS5992.2 r.? - - intronic 61 0 0 31 11 35.5 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.062165669 1.062165669 1 0.648111552 0.648111552 1 NA NA 0 NA NA 0 4 NA 1 1 3.77E-18 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 80448327 A G CTNNA2 CCDS42703.2 r.? - - intronic 37 0 0 57 17 29.8 31 4 12.9 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 1.389578947 1.389578947 1 NA NA 1 NA NA 1 4 NA 1 1 8.82E-26 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 14386268 A G DGKB CCDS47547.1 r.? - - intronic 46 0 0 51 20 39.2 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.524870259 0.881217565 4 2.625673146 1.161642791 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 6.38E-33 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 14400840 A T - - - - - - 49 0 0 49 22 44.9 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.822361962 1.230394163 2.293868134 3.064620615 1.021540205 3 NA NA 0 NA NA 0 4 NA 1 1 1.04E-37 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 82303307 C A - - - - - - 48 0 0 64 8 12.5 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.35E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 14458467 C A - - - - - - 60 0 0 68 6 8.8 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.767741274 0.767741274 1 0.832220839 0.832220839 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000131 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 82877035 G T - - - - - - 43 0 0 48 6 12.5 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 14518164 C G COPB1 CCDS7815.1 r.? - - intronic 55 0 0 46 9 19.6 37 5 13.5 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 1.319210526 1.319210526 1 0 0 1 NA NA 1 4 NA 1 1 1.82E-12 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 14615955 G A PSMA1 CCDS31431.1 r.? - - intronic 50 0 0 31 10 32.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.612421158 1.612421158 1 1.807807018 1.807807018 1 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 14621601 G C DNAJB1 CCDS12312.1 r.? - - downstream 26 0 0 23 10 43.5 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 2.323939165 0.877081601 2.649627084 3.768440992 1.113496435 3.384331439 NA NA 0 NA NA 1 4 NA 1 1 1.05E-17 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 14676819 G A TECR CCDS12313.1 r.? - - downstream 16 0 0 29 18 62.1 10 2 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 3.317623497 1.105874499 3 2.431252253 2.431252253 1 NA NA 0 NA NA 1 4 NA 1 1 1.25E-34 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 14734984 C A - - - - - - 47 0 0 78 14 17.9 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 1.28941037 1.28941037 1 2.350035088 1.175017544 2 NA NA 0 NA NA 1 4 NA 1 1 4.63E-18 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 14742431 C A ANKH CCDS3885.1 r.? - - intronic 21 0 0 34 6 17.6 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.70259481 0.70259481 1 0.763157895 0.763157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.86E-08 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 14747572 A T MACROD2 CCDS13120.2 r.? - - intronic 40 0 0 37 5 13.5 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.673922156 0.673922156 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 101530247 C T NPAS2 CCDS2048.1 r.? - - intronic 54 0 0 57 19 33.3 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.038130583 1.019065292 2 1.109508772 1.109508772 1 NA NA 1 NA NA 0 4 NA 1 1 1.01E-29 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 14912569 G A - - - - - - 37 0 0 61 14 23 55 7 12.7 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.445753344 1.445753344 1 1.556827272 1.556827272 1 0 NA 0 NA NA 1 4 NA 1 1 1.10E-19 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 14956320 A C - - - - - - 34 0 0 19 9 47.4 21 10 47.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.892215569 0.946107784 2 4.937610904 1.645870301 3 NA NA 0 NA NA 0 4 NA 1 1 1.72E-16 1 3.28E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 14972637 G A OR7A2P ENST00000304105 r.? - - downstream 57 1 1.8 26 11 42.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 2.259830498 1.129915249 2 1.25209491 1.25209491 1 NA NA 0 NA NA 1 4 NA 0.248523156 1 3.52E-19 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 103212824 G T - - - - - - 44 0 0 65 9 13.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.844630692 0.844630692 1 0.614 0.614 1 NA NA 1 NA NA 0 4 NA 1 1 4.85E-11 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 15055176 G A - - - - - - 41 0 0 24 12 50 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.136789474 1.045596491 3 NA NA 0 NA NA 1 4 NA 1 1 6.25E-22 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 15112487 C T - - - - - - 56 0 0 47 28 59.6 25 9 36 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.975241517 1.487620758 2 3.517894737 1.758947368 2 NA NA 1 NA NA 1 4 NA 1 1 2.37E-52 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 104948192 G A - - - - - - 57 0 0 70 9 12.9 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.789546082 0.789546082 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.65E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 15188605 G A - - - - - - 20 0 0 44 7 15.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.952730539 0.952730539 1 0.667859649 0.667859649 1 NA NA 1 NA NA 1 4 NA 1 1 2.55E-09 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 15193669 G A - - - - - - 47 0 0 48 7 14.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.312834331 1.312834331 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 105620687 A G - - - - - - 56 0 0 63 12 19 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.16289733 1.16289733 1 0.743263158 0.743263158 1 NA NA 1 NA NA 1 4 NA 1 1 5.15E-16 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 15293862 A T - - - - - - 46 0 0 40 11 27.5 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.372804391 1.372804391 1 2.442982456 1.221491228 2 NA NA 1 NA NA 1 4 NA 1 1 9.88E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 15301550 A G RERG CCDS8673.1 r.? - - intronic 32 0 0 39 20 51.3 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.560904192 1.280452096 2 1.026052632 1.026052632 1 NA NA 1 NA NA 1 4 NA 1 1 6.00E-36 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 15389120 G A FIGF CCDS14166.1 r.? - - intronic 43 0 0 36 16 44.4 38 6 15.8 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 3.873603699 0.968400925 4 1.753211901 1.753211901 1 NA NA 0 0 NA 0 4 NA 1 1 1.01E-27 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 15389820 T C BRD4 CCDS12328.1 r.? - - intronic 44 0 0 22 4 18.2 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 0.972314777 0.972314777 1 0.486250451 0.486250451 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000425 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 15391110 T C CDRT4 CCDS32572.1 r.? - - intronic 42 0 0 35 14 40 20 8 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.596806387 0.798403194 2 4.14925286 1.383084287 3 NA NA 0 NA NA 1 4 NA 1 1 1.28E-23 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 15449897 A G TMEM195 CCDS34604.1 r.? - - intronic 60 0 0 58 6 10.3 37 1 2.7 0 0 NA 0 0 NA 2 0 0 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.926177645 0.926177645 1 0.297870483 NA 0 NA NA 1 0 NA 0 NA NA 1 1 0.000000506 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 15478141 C G AKAP8 CCDS12329.1 r.? - - intronic 34 0 0 29 16 55.2 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 2.948998664 0.982999555 3 2.832408874 0.944136291 3 NA NA 0 NA NA 0 4 NA 1 1 9.74E-30 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 15492635 A C - - - - - - 55 0 0 28 18 64.3 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.566866267 1.283433134 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 4.77E-35 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 15603410 C G - - - - - - 46 0 0 34 15 44.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 2.201479042 1.100739521 2 2.564971127 1.075761148 2.384331439 NA NA 0 NA NA 0 4 NA 1 1 5.18E-26 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 15614132 T G ITGA8 CCDS31155.1 r.? - - intronic 52 0 0 28 14 50 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.105263158 1.052631579 2 NA NA 1 NA NA 1 4 NA 1 1 2.29E-25 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 15617174 G T ZNF286A CCDS11172.1 r.? - - intronic 55 0 0 26 11 42.3 24 10 41.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.688622754 0.844311377 2 4.325596107 1.441865369 3 NA NA 0 NA NA 1 4 NA 1 1 3.52E-19 1 1.80E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 1878990 C T MYT1L CCDS46222.1 r.? - - intronic 15 0 0 38 9 23.7 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.420107784 1.420107784 1 2.692982456 0.897660819 3 NA NA 1 NA NA 1 4 NA 1 1 2.79E-13 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 15669060 T A MEOX2 CCDS34605.1 r.? - - intronic 46 0 0 60 6 10 26 0 0 96 0 0 290 22 7.6 244 0 0 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.899201597 0.899201597 1 0 NA 0 0.683393214 0.683393214 1 0 NA 0 NA NA 1 1 0.000000621 3.87E-19 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 2 106661925 G A - - - - - - 54 0 0 45 8 17.8 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.089451183 1.089451183 1 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 7.14E-11 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 15736166 A T DDX1 CCDS1686.1 r.? - - intronic 48 0 0 46 7 15.2 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 4 NA 1 1 3.53E-09 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 15764604 T C - - - - - - 60 0 0 44 7 15.9 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.739948667 0.739948667 1 2.032561404 2.032561404 1 NA NA 0 NA NA 1 4 NA 1 1 2.55E-09 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 15779485 G A CD38 CCDS3417.1 r.? - - upstream 43 0 0 26 10 38.5 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.791699603 0.895849802 2 0.977192982 0.977192982 1 NA NA 0 NA NA 1 4 NA 1 1 4.82E-17 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 15784747 C G - - - - - - 49 0 0 40 4 10 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.62858841 0.62858841 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 15881145 G T MYH11 CCDS45424.1 r.? - - intronic 31 0 0 26 10 38.5 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.499320236 0.999838114 2.499724906 3.09957547 1.033191823 3 NA NA 0 NA NA 1 4 NA 1 1 4.82E-17 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 15973904 A G PROM1 CCDS47029.1 r.? - - intronic 65 0 0 40 7 17.5 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.814408911 0.814408911 1 0.928333333 0.928333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.26E-09 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 16002782 G A - - - - - - 36 0 0 58 12 20.7 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.343790361 1.343790361 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 1.76E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 16009049 G A - - - - - - 47 0 0 53 6 11.3 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.98584959 0.98584959 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000293 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 16024864 G T - - - - - - 46 0 0 49 37 75.5 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 6.586871155 1.317374231 5 1.930752347 0.965376173 2 NA NA 0 NA NA 0 4 NA 1 1 6.33E-75 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 113288628 C T TTL CCDS2096.1 r.3581c>u c.? p.? 3'UTR variant 50 0 0 50 9 18 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.101692207 1.101692207 1 0.980245614 0.980245614 1 NA NA 1 NA NA 0 4 NA 1 1 4.07E-12 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 16030332 T C STRAP CCDS8676.1 r.? - - upstream 46 0 0 32 13 40.6 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.026758483 1.013379242 2 1.045596491 1.045596491 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-22 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 16030847 C A PLEKHM2 CCDS44063.1 r.? - - intronic 21 0 0 25 4 16 11 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.798722555 0.798722555 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 16057351 G C - - - - - - 55 0 0 42 11 26.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.569908184 1.569908184 1 1.303403509 1.303403509 1 NA NA 1 NA NA 1 4 NA 1 1 1.81E-16 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115694131 C A DPP10 CCDS46400.1 r.? - - intronic 43 0 0 46 8 17.4 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.064969134 1.064969134 1 0.312385965 0.312385965 1 NA NA 0 NA NA 0 4 NA 1 1 8.61E-11 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 16084465 A T PROM1 ENST00000505450 r.? - - intronic 24 0 0 27 6 22.2 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.033135875 1.033135875 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 4.23E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116036873 C G DPP10 CCDS46400.1 r.? - - intronic 43 0 0 59 21 35.6 46 9 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.178902365 1.023681541 2.128496294 2.111298246 1.055649123 2 NA NA 1 NA NA 0 4 NA 1 1 2.06E-33 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 16179306 A T - - - - - - 42 0 0 39 10 25.6 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.372789875 1.372789875 1 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 5.44E-15 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 16270993 T C - - - - - - 50 0 0 31 10 32.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.612421158 1.612421158 1 1.583052632 1.583052632 1 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 16280542 T C - - - - - - 43 0 0 49 21 42.9 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 2.807110933 1.100238365 2.55136616 2.048315789 1.024157895 2 NA NA 0 NA NA 1 4 NA 1 1 1.63E-35 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116075342 C T DPP10 CCDS46400.1 r.? - - intronic 55 0 0 42 14 33.3 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.038130583 1.019065292 2 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 2.83E-22 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 16333231 G A - - - - - - 41 0 0 56 6 10.7 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.933503594 0.933503594 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000409 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 16340190 G A - - - - - - 33 0 0 29 10 34.5 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.067245509 1.033622754 2 2.563719298 0.854573099 3 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 138431331 C A THSD7B ENST00000409968 r.? - - intronic 53 0 0 60 4 6.7 48 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.53546507 0.53546507 1 0.268210526 0.268210526 1 NA NA 1 NA NA 1 4 NA 1 1 0.000243755 1 0.213845552 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 16400710 G T - - - - - - 18 0 0 35 11 31.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.939493014 0.939493014 1 1.44650984 1.44650984 1 NA NA 0 NA NA 0 4 NA 1 1 1.82E-17 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 16409982 C T - - - - - - 35 0 0 44 14 31.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.905461078 0.952730539 2 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 6.10E-22 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 16450748 G T ZNF287 CCDS11179.2 r.? - - downstream 45 0 0 34 20 58.8 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.347305389 1.173652695 2 2.74888002 0.91629334 3 NA NA 0 NA NA 1 4 NA 1 1 1.24E-37 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 16461413 C T - - - - - - 33 0 0 37 16 43.2 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.588550898 0.862850299 3 1.723508772 1.723508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.78E-27 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 16551522 C G KIF16B CCDS13122.1 r.? - - intronic 51 0 0 35 10 28.6 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.427716567 1.427716567 1 0.957545957 0.957545957 1 NA NA 0 NA NA 0 4 NA 1 1 1.60E-15 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 16621455 A C ENSG00000205858 ENST00000401542 r.? - - downstream 46 0 0 61 6 9.8 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8 4.260310284 6 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.979217565 0.979217565 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000685 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 16643432 T C LDB2 CCDS3420.1 r.? - - intronic 40 0 0 40 12 30 27 3 11.1 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.396129561 1.396129561 1 1.084684211 1.084684211 1 NA NA 0 0 0 1 4 NA 1 1 1.20E-18 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 16645749 A C - - - - - - 56 0 0 49 19 38.8 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 2.538832266 0.995087379 2.55136616 1.36554386 1.36554386 1 NA NA 0 NA NA 1 4 NA 1 1 3.12E-31 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 16696908 G A - - - - - - 45 0 0 35 7 20 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.055368421 1.055368421 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 140916006 T G - - - - - - 41 0 0 77 4 5.2 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.41558483 0.41558483 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000632383 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 16772828 G T - - - - - - 28 0 0 46 11 23.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.281628047 1.281628047 1 2.519192982 0.839730994 3 NA NA 0 NA NA 1 4 NA 1 1 5.55E-16 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 16777431 C T - - - - - - 38 0 0 74 23 31.1 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 4.260310284 6 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.107516966 1.035838989 3 2.493286264 1.103072566 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 7.70E-35 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 16777513 T A - - - - - - 46 0 0 75 22 29.3 50 10 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 4.260310284 6 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.927660679 0.975886893 3 2.206448022 0.976170412 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 9.55E-33 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 16854590 C T - - - - - - 63 0 0 47 17 36.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.941210682 0.970605341 2 2.789947368 0.929982456 3 NA NA 0 NA NA 1 4 NA 1 1 1.81E-27 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 16862402 G A AGR2 ENST00000412973 r.? - - intronic 54 0 0 63 15 23.8 32 14 43.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 4.260310284 NA 2 NA 2 NA 0.739689716 NA 3 NA 2 NA 0.260310284 NA NA 1 4.832121167 2.137813203 2.260310284 NA NA 1 NA NA 0 NA NA 1 1 2.97E-21 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 16889259 A G - - - - - - 48 0 0 37 14 37.8 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.886982036 0.943491018 2 1.573280702 1.573280702 1 NA NA 1 NA NA 1 4 NA 1 1 3.35E-23 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 16909519 C A PLEKHA7 CCDS31434.1 r.? - - intronic 11 0 0 33 4 12.1 10 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.604033932 0.604033932 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 16919409 A C - - - - - - 50 1 2 25 9 36 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.077125749 1.077125749 1 0.373052632 0.373052632 1 NA NA 1 NA NA 1 4 NA 0.221687443 1 3.71E-15 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 16921607 G A - - - - - - 42 0 0 51 18 35.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.218917088 0.967325477 2.293868134 2.954294273 0.984764758 3 NA NA 0 NA NA 0 4 NA 1 1 9.10E-29 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 16973442 C A - - - - - - 13 0 0 37 14 37.8 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.886982036 0.943491018 2 1.563508772 1.563508772 1 NA NA 1 NA NA 1 4 NA 1 1 3.35E-23 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 17023033 C T - - - - - - 47 1 2.1 44 23 52.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.433919201 1.216959601 2 2.091192982 2.091192982 1 NA NA 0 NA NA 1 4 NA 0.209895027 1 2.17E-41 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 17109170 T G - - - - - - 46 0 0 45 15 33.3 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.161749711 1.080874856 2 1.549787735 1.549787735 1 NA NA 0 NA NA 0 4 NA 1 1 9.14E-24 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 17144229 G A - - - - - - 37 0 0 43 7 16.3 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.813698603 0.813698603 1 1.480855957 1.480855957 1 NA NA 0 NA NA 0 4 NA 1 1 2.15E-09 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 17174353 A G CUBN CCDS7113.1 r.? - - upstream 51 0 0 51 11 21.6 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.862275449 0.862275449 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.94E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 17182327 G T USP25 CCDS33515.1 r.? - - intronic 56 0 0 69 6 8.7 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 0.569274245 0.569274245 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000143 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 142578933 C A LRP1B CCDS2182.1 r.? - - intronic 48 0 0 57 5 8.8 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.527297405 0.527297405 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 17221686 C T PCSK2 CCDS13125.1 r.? - - intronic 64 0 0 40 7 17.5 41 12 29.3 153 0 0 294 59 20.1 280 52 18.6 1.49E-48 TRUE TRUE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.873602794 0.873602794 1 3.262336808 1.380985312 2.362325493 1.00339521 1.00339521 1 2.070971489 1.035485745 2 4 3 1 1 1.26E-09 3.26E-74 1.69E-18 1.02E-63 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 8 17226775 T G MTMR7 CCDS34851.1 r.? - - intronic 44 0 0 30 10 33.3 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.996341317 0.996341317 1 1.568617814 1.568617814 1 NA NA 0 NA NA 1 4 NA 1 1 2.68E-16 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 142857371 T A LRP1B CCDS2182.1 r.? - - intronic 48 0 0 49 18 36.7 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.19906986 1.09953493 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 3.80E-29 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 152986926 C T STAM2 CCDS2196.1 r.? - - intronic 13 0 0 37 14 37.8 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.264982036 1.132491018 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.35E-23 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 17365978 G A - - - - - - 33 0 0 60 5 8.3 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 3 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.663337325 0.663337325 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000136 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 17367245 G A XYLT1 CCDS10569.1 r.? - - intronic 28 0 0 28 8 28.6 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.85663789 0.928318945 2 1.091050565 1.091050565 1 NA NA 0 NA NA 0 4 NA 1 1 1.11E-12 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 153557871 C T PRPF40A CCDS46430.1 r.? - - intronic 49 0 0 48 7 14.6 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.874834331 0.874834331 1 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 4.81E-09 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 17389631 C T - - - - - - 45 0 0 53 25 47.2 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.828231537 0.942743846 3 1.615789474 1.615789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-43 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 17424714 G A DDA1 CCDS12357.1 r.? - - intronic 27 0 0 37 16 43.2 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 2.156550898 1.078275449 2 2.431252253 1.019678814 2.384331439 NA NA 0 NA NA 0 4 NA 1 1 1.78E-27 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 154228988 C T - - - - - - 33 0 0 29 16 55.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 3.307592814 1.653796407 2 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 158478421 T A ACVR1C CCDS2205.1 r.? - - intronic 45 0 0 51 18 35.3 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.115181637 1.057590818 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 9.10E-29 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 17574705 C T - - - - - - 19 0 0 39 14 35.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.256632393 0.98376727 2.293868134 2.047166571 2.047166571 1 NA NA 0 NA NA 1 4 NA 1 1 8.19E-23 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 17611102 C T PADI3 CCDS179.1 r.? - - downstream 24 0 0 35 8 22.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 8.15E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 17641639 C T - - - - - - 64 0 0 53 27 50.9 46 10 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.540936128 1.270468064 2 2.120508772 1.060254386 2 NA NA 1 NA NA 1 4 NA 1 1 6.40E-48 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 17647965 G C CECR5 CCDS13741.1 r.? - - upstream 30 0 0 38 9 23.7 25 0 0 221 0 0 82 31 37.8 89 0 0 1 TRUE TRUE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.252530281 1.252530281 1 0 0 1 1.997706524 0.998853262 2 0 0 1 4 2 1 1 2.79E-13 1.35E-49 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 17 17673004 C T RAI1 CCDS11188.1 r.? - - intronic 14 0 0 28 12 42.9 9 4 44.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.71257485 0.856287425 2 4.605670675 1.535223558 3 NA NA 0 NA NA 1 4 NA 1 1 6.90E-21 1 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 17726289 G A - - - - - - 52 0 0 46 7 15.2 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.758786427 0.758786427 1 0.263842105 0.263842105 1 NA NA 1 NA NA 1 4 NA 1 1 3.53E-09 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 17825159 G A - - - - - - 52 0 0 48 16 33.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 2.178946249 1.089473124 2 2.483877193 0.827959064 3 NA NA 0 NA NA 1 4 NA 1 1 2.96E-25 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 17849855 G C AL390994.1 ENST00000509615 r.? - - intronic 33 0 0 46 10 21.7 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.083267465 1.083267465 1 0.871122807 0.871122807 1 NA NA 0 NA NA 1 4 NA 1 1 3.38E-14 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 17894524 A G - - - - - - 49 0 0 18 5 27.8 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831780439 0.831780439 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 17941165 T G KIF13A CCDS47380.1 r.? - - intronic 39 0 0 55 6 10.9 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.685161367 0.685161367 1 1.017454044 1.017454044 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000367 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 18063020 C A TPH1 CCDS7829.1 r.? - - upstream 57 0 0 48 9 18.8 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.938499002 0.938499002 1 1.026052632 1.026052632 1 NA NA 1 NA NA 1 4 NA 1 1 2.75E-12 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 18162086 C G AC139618.1 ENST00000448265 r.? - - intronic 44 0 0 38 11 28.9 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.549751069 1.549751069 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 18201888 G A - - - - - - 42 0 0 41 21 51.2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.555912176 1.277956088 2 2.516341702 1.065196862 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 1.17E-37 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 168263860 A G - - - - - - 32 0 0 39 17 43.6 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.612518962 1.306259481 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 3.51E-29 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 172379959 G T CYBRD1 CCDS2244.1 r.? - - intronic 15 0 0 66 9 13.6 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0.829438596 0.829438596 1 NA NA 1 NA NA 1 4 NA 1 1 5.59E-11 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 18254471 C A - - - - - - 54 0 0 40 5 12.5 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18264039 G C HDAC9 ENST00000433709 r.? - - intronic 61 0 0 67 22 32.8 65 9 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.293381238 1.146690619 2 1.522449135 1.522449135 1 NA NA 1 NA NA 0 4 NA 1 1 5.21E-34 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 18292301 C A - - - - - - 54 0 0 45 6 13.3 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.863401536 0.863401536 1 1.029059056 1.029059056 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000108 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18313789 C T HDAC9 ENST00000433709 r.? - - intronic 59 0 0 50 12 24 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.678083832 0.839041916 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.49E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 18346469 A C - - - - - - 63 1 1.6 34 11 32.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.737437185 1.066203123 1.62955552 2.578052632 0.859350877 3 NA NA 0 NA NA 1 4 NA 0.27078753 1 1.26E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 18383173 C T RNF144B CCDS34345.1 r.? - - upstream 38 0 0 42 12 28.6 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.797762853 0.898881427 2 2.451696492 0.975431802 2.513447365 NA NA 0 NA NA 0 4 NA 1 1 2.35E-18 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 175982291 G A ATF2 CCDS2262.1 r.? - - intronic 39 0 0 36 15 41.7 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.498670659 1.249335329 2 3.123859649 1.561929825 2 NA NA 1 NA NA 1 4 NA 1 1 1.54E-25 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 18408351 G A - - - - - - 58 0 0 48 14 29.2 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.910667581 0.955333791 2 2.295526316 1.147763158 2 NA NA 0 NA NA 1 4 NA 1 1 2.51E-21 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 18497074 G T CDKL5 CCDS14186.1 r.? - - intronic 24 0 0 58 9 15.5 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 1.450254295 1.450254295 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.67E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 18508066 C A CACNB2 CCDS7127.1 r.? - - intronic 52 0 0 25 6 24 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.958083832 0.958083832 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.55E-09 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 18508067 C A CACNB2 CCDS7127.1 r.? - - intronic 52 0 0 24 5 20.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.830339321 0.830339321 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000123 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18543756 G C HDAC9 CCDS47554.1 r.? - - intronic 48 0 0 78 15 19.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 4.260310284 NA 2 NA 2 NA 0.739689716 NA 3 NA 2 NA 0.260310284 NA NA 1 0.915675929 0.915675929 1 NA NA 1 NA NA 0 NA NA 1 1 9.92E-20 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18544031 G A HDAC9 CCDS47554.1 r.? - - intronic 48 0 0 86 21 24.4 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 4.260310284 NA 2 NA 2 NA 0.739689716 NA 3 NA 2 NA 0.260310284 NA NA 1 0.551612005 0.551612005 1 NA NA 1 NA NA 0 NA NA 1 1 2.01E-29 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 18558247 C T - - - - - - 31 0 0 17 7 41.2 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.644710579 1.644710579 1 0.985447554 0.985447554 1 NA NA 0 NA NA 1 4 NA 1 1 1.45E-12 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 18716829 C T - - - - - - 66 0 0 28 6 21.4 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.995905754 0.995905754 1 1.006508772 1.006508772 1 NA NA 0 NA NA 1 4 NA 1 1 5.36E-09 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 47531983 C A - - - - - - 53 0 0 53 10 18.9 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.510491018 1.510491018 1 2.056280702 2.056280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.57E-13 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 178138262 T A - - - - - - 42 0 0 47 15 31.9 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.911453094 0.955726547 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.97E-23 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 18755967 G T NT5C1B CCDS33149.1 r.? - - intronic 44 0 0 46 23 50 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.996007984 0.998669328 3 2.779157895 0.926385965 3 NA NA 1 NA NA 1 4 NA 1 1 8.79E-41 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 18758902 C T CACNB2 CCDS7128.1 r.? - - intronic 34 0 0 36 19 52.8 33 13 39.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.107784431 1.053892216 2 3.456140351 1.728070175 2 NA NA 1 NA NA 1 4 NA 1 1 1.51E-34 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 18797423 G A - - - - - - 34 0 0 30 13 43.3 27 7 25.9 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.728542914 0.864271457 2 2.271929825 1.135964912 2 NA NA 1 0 0 1 4 NA 1 1 1.35E-22 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 18803274 G A PPEF1 CCDS14188.1 r.? - - intronic 51 0 0 100 65 65 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 6.081711561 1.133703626 5.364463357 2.918321076 1.255543937 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 2.50E-123 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 18809019 T G C21orf37 ENST00000440664 r.? - - upstream 45 0 0 45 7 15.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.020767612 1.020767612 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000003 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18822433 C T HDAC9 CCDS47554.1 r.? - - intronic 59 0 0 85 11 12.9 45 9 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 1.22522294 1.22522294 1 2.206448022 0.976170412 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 7.42E-13 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 18866108 C T - - - - - - 50 0 0 23 5 21.7 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.009867049 1.009867049 1 0.283385965 0.283385965 1 NA NA 0 NA NA 1 4 NA 1 1 9.75E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 19007791 A G GREB1L CCDS45836.1 r.? - - intronic 40 0 0 27 7 25.9 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.033932136 1.033932136 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.36E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 19018296 G A - - - - - - 44 0 0 36 17 47.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.196577176 1.098288588 2 2.061877193 1.030938596 2 NA NA 0 NA NA 1 4 NA 1 1 6.00E-30 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 19042349 C G - - - - - - 50 0 0 51 8 15.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.027310994 1.027310994 1 2.166035088 1.083017544 2 NA NA 0 NA NA 1 4 NA 1 1 2.05E-10 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 19071969 G A - - - - - - 43 0 0 36 6 16.7 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.895530895 0.895530895 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.68E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 19073871 G A GPR64 CCDS43923.1 r.? - - intronic 30 0 0 75 7 9.3 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 0.870152577 0.870152577 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000115 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 19074120 G A GPR64 CCDS43923.1 r.? - - intronic 40 0 0 82 7 8.5 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 0.795300743 0.795300743 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000214 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 178300305 T A AGPS CCDS2275.1 r.? - - intronic 49 0 0 58 19 32.8 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.965381238 0.982690619 2 1.701964912 1.701964912 1 NA NA 1 NA NA 1 4 NA 1 1 1.50E-29 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 19074353 G C GPR64 CCDS43923.1 r.? - - intronic 47 0 0 101 5 5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 0.467823966 1.283596712 0.364463357 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000166173 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 19092101 T A - - - - - - 77 0 0 41 4 9.8 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.391217565 0.391217565 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000546 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 19096793 G A - - - - - - 45 0 0 25 4 16 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.798722555 0.798722555 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 19104033 T C - - - - - - 34 0 0 71 17 23.9 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.269986687 0.905879888 2.505836279 0.827418008 0.827418008 1 NA NA 1 NA NA 0 4 NA 1 1 6.12E-24 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 19173707 C A C21orf91 CCDS42907.1 r.? - - intronic 16 0 0 48 13 27.1 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.773256557 0.886628278 2 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 2.00E-19 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 19175062 C T - - - - - - 26 0 0 30 18 60 16 4 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 2.192982456 2.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-34 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 19211925 C T CSRP3 CCDS7848.1 r.? - - intronic 44 0 0 52 15 28.8 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.437700599 1.437700599 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 19242920 G T - - - - - - 29 0 0 43 11 25.6 16 4 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.277956088 1.277956088 1 2.442982456 2.442982456 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-16 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 19263235 T A ENSG00000249108 ENST00000505027 r.161a>u c.161A>T p.D54V missense 34 0 0 22 14 63.6 15 4 26.7 268 0 0 154 61 39.6 172 34 19.8 2.72E-33 TRUE TRUE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 3.3612205 1.120406833 3 3.143105263 1.047701754 3 2.092835406 1.046417703 2 2.330842105 1.165421053 2 4 3 1 1 1.88E-27 1.44E-97 0.000000816 3.11E-43 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 13 19277182 G T - - - - - - 40 0 0 22 8 36.4 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 19287318 T A - - - - - - 42 0 0 79 18 22.8 50 8 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.165510312 1.082755156 2 1.765158417 1.765158417 1 NA NA 1 NA NA 0 4 NA 1 1 7.86E-25 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 19288025 C A - - - - - - 56 0 0 83 5 6 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 0.569871135 0.569871135 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000656 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 19321177 C T NCAN CCDS12397.1 r.? - - upstream 26 0 0 28 5 17.9 31 1 3.2 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.893570858 0.893570858 1 0.38900036 0.38900036 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000279 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 179300185 G T PRKRAP1 CCDS46460.1 r.? - - intronic 51 0 0 49 6 12.2 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000182 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 19334147 A G CHODL ENST00000400128 r.? - - intronic 54 0 0 59 11 18.6 50 4 8 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.217069076 1.217069076 1 0.941754386 0.941754386 1 NA NA 0 NA NA 1 4 NA 1 1 1.10E-14 1 0.000119787 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 19342311 C T CHODL ENST00000400128 r.? - - intronic 38 0 0 56 15 26.8 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.75362641 0.876813205 2 3.154877193 1.051625731 3 NA NA 0 NA NA 1 4 NA 1 1 4.09E-22 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 19343688 G C - - - - - - 61 0 0 33 7 21.2 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.986598223 0.986598223 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.98E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 179642147 C A TTN ENST00000356127 r.4870g>u c.4645G>T p.A1549S missense 46 0 0 42 8 19 32 1 3.1 156 0 0 145 25 17.2 158 3 1.9 0.210939429 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 0.333929825 0.333929825 1 1.030626747 1.030626747 1 0.204666667 0.204666667 1 4 2 1 1 3.96E-11 1.30E-30 0.14819814 0.045565502 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 7 19465754 C T - - - - - - 44 0 0 75 26 34.7 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.29575473 0.940076623 3.505836279 2.625673146 1.161642791 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.19E-40 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 19479289 G T - - - - - - 49 0 0 74 6 8.1 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 0.769326032 0.769326032 1 0.308902723 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000216 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 19501184 C T TMC5 CCDS45431.1 r.? - - intronic 39 0 0 40 10 25 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.622935218 1.622935218 1 1.710965659 1.710965659 1 NA NA 0 NA NA 0 4 NA 1 1 7.22E-15 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 19524021 G A - - - - - - 45 0 0 18 4 22.2 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.033135875 1.033135875 1 1.006508772 1.006508772 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000181 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 19581304 T C SLC24A3 CCDS13140.1 r.? - - intronic 53 0 0 46 7 15.2 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.758786427 0.758786427 1 0.812800638 0.812800638 1 NA NA 0 NA NA 0 4 NA 1 1 3.53E-09 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 19656799 G C C16orf62 CCDS32397.1 r.? - - intronic 13 0 0 47 20 42.6 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.765481612 1.106314381 2.499724906 4.28981245 1.429937483 3 NA NA 0 NA NA 1 4 NA 1 1 8.18E-34 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 19675569 C A - - - - - - 50 0 0 98 55 56.1 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 5.328295111 0.967754005 5.505836279 1.798255138 1.798255138 1 NA NA 1 NA NA 0 4 NA 1 1 2.76E-99 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 19702826 G T SH3KBP1 CCDS14193.1 r.? - - intronic 49 0 0 78 12 15.4 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 1.440897816 1.440897816 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 7.82E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 180324789 C A ZNF385B CCDS33339.1 r.? - - intronic 29 0 0 63 28 44.4 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.66045509 1.330227545 2 1.303403509 1.303403509 1 NA NA 1 NA NA 1 4 NA 1 1 1.98E-47 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 19776210 G T PRSS7 CCDS13571.1 r.? - - upstream 57 0 0 55 7 12.7 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 0.83100953 0.83100953 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.28E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 181651922 G A - - - - - - 58 0 0 59 20 33.9 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.031293413 1.015646707 2 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.21E-31 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 19795960 C G - - - - - - 146 0 0 74 14 18.9 82 4 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.754491018 0.754491018 1 0.429824561 0.429824561 1 NA NA 1 NA NA 1 4 NA 1 1 2.10E-18 1 0.000801325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 19837368 T C ZNF14 CCDS12409.1 r.? - - intronic 31 0 0 47 6 12.8 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.638978044 0.638978044 1 1.738345361 1.738345361 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000141 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 19863047 C T TXNRD2 CCDS42981.1 r.1931g>a c.? p.? 3'UTR variant 13 0 0 31 16 51.6 15 2 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.727027953 1.007369525 2.707078074 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 4.27E-29 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 19909670 C T - - - - - - 50 0 0 37 9 24.3 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.130864944 1.130864944 1 0.57654386 0.57654386 1 NA NA 0 NA NA 1 4 NA 1 1 2.14E-13 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 182632146 G A - - - - - - 46 0 0 43 11 25.6 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.533956088 1.533956088 1 0.527824561 0.527824561 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-16 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 19955112 A G - - - - - - 46 0 0 51 20 39.2 38 15 39.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.348870259 1.17443513 2 4.254912281 1.06372807 4 NA NA 1 NA NA 1 4 NA 1 1 6.38E-33 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 19963264 C T RIN2 ENST00000255006 r.? - - intronic 33 0 0 34 6 17.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.87859481 0.87859481 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 20003888 G A CYTSB CCDS42280.1 r.? - - intronic 61 0 0 33 7 21.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.846307385 0.846307385 1 1.483357898 1.483357898 1 NA NA 0 NA NA 1 4 NA 1 1 2.98E-10 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 20063652 T C - - - - - - 51 0 0 47 5 10.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.666303715 0.666303715 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 20064542 G A GPR139 CCDS32398.1 r.? - - intronic 47 0 0 47 16 34 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.207191897 1.103595949 2 3.260753394 1.086917798 3 NA NA 0 NA NA 1 4 NA 1 1 1.98E-25 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 20083800 A G - - - - - - 17 0 0 46 20 43.5 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.606526946 0.868842315 3 0.850982456 0.850982456 1 NA NA 1 NA NA 1 4 NA 1 1 4.72E-34 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 20087274 T C - - - - - - 56 0 0 52 19 36.5 50 10 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.294347697 1.000209063 2.293868134 2.451696492 0.975431802 2.513447365 NA NA 0 NA NA 1 4 NA 1 1 1.24E-30 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20200477 A G MACC1 CCDS5369.1 r.? - - intronic 58 0 0 82 27 32.9 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.124793389 1.041597796 3 1.787222898 1.787222898 1 NA NA 1 NA NA 0 4 NA 1 1 1.96E-41 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 20211401 A G CYTSB CCDS32590.1 r.? - - intronic 40 0 0 28 13 46.4 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.852295409 0.926147705 2 2.45843232 1.024860223 2.398797674 NA NA 0 NA NA 0 4 NA 1 1 4.26E-23 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 186944639 G T - - - - - - 51 0 0 33 8 24.2 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.450067864 1.450067864 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-12 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 20247608 G A - - - - - - 36 0 0 35 14 40 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.996806387 0.998403194 2 2.140052632 1.070026316 2 NA NA 1 NA NA 1 4 NA 1 1 1.28E-23 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 20248837 C A - - - - - - 39 0 0 49 19 38.8 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.438923032 1.063235936 2.293868134 1.887806299 1.887806299 1 NA NA 0 NA NA 0 4 NA 1 1 3.12E-31 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 20259019 C A C20orf26 CCDS33447.1 r.? - - intronic 33 0 0 29 4 13.8 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.688898204 0.688898204 1 0.378564681 0.378564681 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000134 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 20261751 C A ZNF90 ENST00000427401 r.? - - intronic 22 0 0 33 5 15.2 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.758786427 0.758786427 1 0.936032117 0.936032117 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000066 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 20262873 A C - - - - - - 37 0 0 32 15 46.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.341255489 1.170627745 2 2.276859649 1.138429825 2 NA NA 1 NA NA 1 4 NA 1 1 1.59E-26 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 20267282 C A - - - - - - 34 0 0 23 4 17.4 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.868610778 0.868610778 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000513 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 20284933 C T - - - - - - 45 0 0 34 15 44.1 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.201479042 1.100739521 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 5.18E-26 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 193042946 A G TMEFF2 CCDS2314.1 r.? - - intronic 45 0 0 69 8 11.6 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.695073852 0.695073852 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.49E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 194866762 G T - - - - - - 44 0 0 52 19 36.5 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.187085828 1.093542914 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-30 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 20313362 G A - - - - - - 47 0 0 71 44 62 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 5.801017181 1.081378844 5.364463357 1.353745898 1.353745898 1 NA NA 1 NA NA 0 4 NA 1 1 1.46E-82 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 20336233 A C - - - - - - 43 0 0 82 21 25.6 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.55136616 5 2 3 2 2 0.44863384 1 3 NA 2 NA 0.55136616 NA 1.675105825 1.07976174 1.55136616 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 6.53E-30 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 20346759 G A UMOD CCDS10583.1 r.? - - intronic 42 0 0 39 10 25.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.661885664 1.661885664 1 2.256490942 0.950650647 2.373627945 NA NA 0 NA NA 1 4 NA 1 1 5.44E-15 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 20378443 A T - - - - - - 52 0 0 50 12 24 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.508612185 1.508612185 1 2.378145597 0.946168848 2.513447365 NA NA 0 NA NA 0 4 NA 1 1 2.49E-17 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 20422857 G A ACSM5 CCDS10585.1 r.198g>a c.51G>A p.R17R silent 29 0 0 42 14 33.3 24 5 20.8 291 0 0 138 41 29.7 156 20 12.8 2.29E-16 TRUE TRUE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.161749711 1.080874856 2 2.578846791 1.086457883 2.373627945 1.92804704 0.96402352 2 1.586982641 1.155322041 1.373627945 4 3 1 1 2.83E-22 6.08E-60 0.000000123 4.18E-22 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 195120201 G C - - - - - - 38 0 0 66 11 16.7 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.355473684 0.355473684 1 NA NA 1 NA NA 1 4 NA 1 1 4.07E-14 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 20457723 G C - - - - - - 35 0 0 23 7 30.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.909572854 0.909572854 1 0.939292104 0.939292104 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-11 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 20475523 G T SLIT2 ENST00000504154 r.? - - intronic 56 0 0 28 5 17.9 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.833023971 0.833023971 1 0.332245614 0.332245614 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000279 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 20481423 T C - - - - - - 52 0 0 39 6 15.4 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.825818909 0.825818909 1 0.294298246 0.294298246 1 NA NA 0 NA NA 1 4 NA 1 1 4.43E-08 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 202676648 C A CDK15 CCDS2350.1 r.? - - intronic 41 0 0 46 7 15.2 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 0.721719298 0.721719298 1 NA NA 1 NA NA 1 4 NA 1 1 3.53E-09 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 20513795 C T - - - - - - 43 1 2.3 22 8 36.4 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 0.193893409 1 1.17E-13 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 207237714 T A - - - - - - 39 0 0 53 4 7.5 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.449401198 0.449401198 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 20537661 G A - - - - - - 36 0 0 31 13 41.9 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.091654691 1.045827345 2 2.169368421 2.169368421 1 NA NA 1 NA NA 1 4 NA 1 1 2.32E-22 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 20539333 T G MLLT3 CCDS6494.1 r.? - - intronic 56 0 0 30 11 36.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.09806986 1.09806986 1 1.33677193 1.33677193 1 NA NA 1 NA NA 1 4 NA 1 1 2.44E-18 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 20546961 T C ZMYM2 CCDS45016.1 r.? - - intronic 44 0 0 27 7 25.9 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.033932136 1.033932136 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 6.36E-11 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 20601044 G A - - - - - - 51 0 0 53 9 17 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 1.590601485 1.590601485 1 1.198398008 1.198398008 1 NA NA 0 NA NA 0 4 NA 1 1 7.10E-12 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 20618327 G T - - - - - - 23 0 0 32 20 62.5 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.49500998 1.24750499 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.03E-38 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 20635680 G A - - - - - - 41 0 0 23 7 30.4 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.414744622 1.414744622 1 2.091192982 2.091192982 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-11 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 20636163 C T - - - - - - 34 0 0 75 27 36 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 5 NA 3 NA 2 NA 1 NA NA NA NA NA NA NA NA 1 3.143105263 1.047701754 3 NA NA 1 NA NA 1 NA NA 1 1 1.08E-42 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 20664295 C T - - - - - - 56 0 0 47 11 23.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.254815745 1.254815745 1 0.812263158 0.812263158 1 NA NA 0 NA NA 1 4 NA 1 1 7.21E-16 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20677006 G A ABCB5 CCDS5371.1 r.? - - intronic 61 0 0 102 19 18.6 59 12 20.3 193 1 0.5 1094 146 13.3 732 90 12.3 2.42E-66 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 1.766600518 0.883300259 2 2.239544742 0.990812968 2.260310284 1.263214349 0.838878945 1.505836279 1.356965533 1.07669163 1.260310284 4 3 1 0.619937882 2.57E-24 1.68E-153 2.20E-16 4.79E-92 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20677107 G A ABCB5 CCDS5371.1 r.? - - intronic 38 0 0 88 17 19.3 52 6 11.5 78 0 0 317 28 8.8 207 22 10.6 4.24E-16 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 1.833085484 0.916542742 2 1.268707612 1.268707612 1 0.835810998 0.835810998 1 1.169417451 1.169417451 1 4 3 1 1 3.34E-22 9.47E-26 0.000000261 2.46E-22 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20677531 G A ABCB5 CCDS5371.1 r.? - - intronic 54 0 0 93 14 15.1 29 11 37.9 148 0 0 962 142 14.8 546 78 14.3 8.33E-63 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 1.434175689 1.434175689 1 4.181219001 1.849842931 2.260310284 1.405682133 0.933489352 1.505836279 1.577610335 0.788805168 2 4 3 1 1 6.26E-17 7.99E-156 1.56E-18 2.82E-85 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 15 20686308 T C - - - - - - 16 0 0 15 7 46.7 12 6 50 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.403731855 5 4 4 2 1 0.596268145 1 5 NA 2 NA 0.403731855 NA 3.920814233 0.980203558 4 5.885964912 1.471491228 4 NA NA 0 NA NA 0 4 NA 1 1 4.85E-13 1 1.41E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20696893 C T ABCB5 CCDS5371.1 r.? - - intronic 46 0 0 104 45 43.3 55 15 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.112570023 1.028142506 4 3.01180155 1.332472613 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 1.32E-74 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20696969 C G ABCB5 CCDS5371.1 r.? - - intronic 52 0 0 104 39 37.5 44 14 31.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.561694593 1.01593295 3.505836279 3.508252354 1.552110956 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 8.11E-62 1 6.10E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20697936 C G ABCB5 CCDS5371.1 r.? - - intronic 52 0 0 98 47 48 43 13 30.2 0 0 NA 14 8 57.1 5 0 0 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.558969079 1.011791995 4.505836279 3.331736513 1.474017323 2.260310284 5.423273633 0.985004522 5.505836279 0 NA 0 4 NA 1 1 1.30E-80 1.14E-15 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20698199 C G ABCB5 CCDS5371.1 r.1737c>g c.272C>G p.A91G missense 46 0 0 91 45 49.5 50 19 38 172 0 0 845 333 39.4 565 141 25 4.12E-148 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.701436862 1.043410495 4.505836279 4.192251241 1.854723783 2.260310284 3.742153785 0.935538446 4 2.758060027 1.220213015 2.260310284 4 3 1 1 4.66E-78 0 5.00E-31 1.23E-189 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20698620 C T ABCB5 CCDS5371.1 r.? - - intronic 47 0 0 97 38 39.2 51 12 23.5 266 0 0 847 285 33.6 665 111 16.7 2.90E-96 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.723158081 1.061988577 3.505836279 2.592576425 1.147000234 2.260310284 3.191278355 1.063759452 3 1.842384098 0.921192049 2 4 3 1 1 3.62E-61 0 3.24E-17 1.78E-128 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20698624 C T ABCB5 CCDS5371.1 r.? - - intronic 47 0 0 100 43 43 51 14 27.5 271 0 0 846 290 34.3 674 111 16.5 1.35E-95 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.084076466 1.021019117 4 3.03386603 1.342234317 2.260310284 3.257763321 0.929240005 3.505836279 1.820319618 0.910159809 2 4 3 1 1 3.28E-71 0 6.64E-21 8.67E-128 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20698635 C T ABCB5 CCDS5371.1 r.? - - intronic 49 0 0 102 45 44.1 56 14 25 273 0 0 846 273 32.3 672 115 17.1 5.91E-101 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.188552841 1.04713821 4 2.758060027 1.220213015 2.260310284 3.067806276 1.022602092 3 1.886513059 0.943256529 2 4 3 1 1 4.26E-75 0 2.91E-20 2.30E-134 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20698666 C G ABCB5 CCDS5371.1 r.? - - intronic 50 0 0 99 45 45.5 60 11 18.3 314 0 0 824 264 32 668 123 18.4 6.27E-112 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.321522772 0.959094495 4.505836279 2.01889994 1.00944997 2 3.039312719 1.01310424 3 2.02993218 1.01496609 2 4 3 1 1 7.37E-76 0 1.34E-14 8.97E-148 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20698680 C A ABCB5 CCDS5371.1 r.? - - intronic 47 0 0 106 49 46.2 62 13 21 324 2 0.6 780 247 31.7 623 113 18.1 3.30E-102 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.388007738 0.973849795 4.505836279 2.316770423 1.024978933 2.260310284 3.010819162 1.003606387 3 1.99683546 0.99841773 2 4 3 1 0.482003561 6.24E-83 0 8.08E-18 4.06E-135 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 217083710 C G - - - - - - 42 0 0 39 11 28.2 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.689748503 0.844874251 2 2.46677193 1.233385965 2 NA NA 1 NA NA 1 4 NA 1 1 7.20E-17 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20698871 C G ABCB5 CCDS5371.1 r.? - - intronic 44 0 0 69 28 40.6 40 9 22.5 260 0 0 633 248 39.2 406 89 21.9 1.10E-88 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.856128012 0.964032003 4 2.482254024 1.098191714 2.260310284 3.723158081 1.061988577 3.505836279 2.416060584 1.068906601 2.260310284 4 3 1 1 5.13E-46 0 4.64E-13 8.62E-115 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20698937 C G ABCB5 CCDS5371.1 r.? - - intronic 44 0 0 97 40 41.2 42 14 33.3 138 0 0 454 174 38.3 271 50 18.5 1.33E-46 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.913115126 0.978278781 4 3.673735956 1.625323736 2.260310284 3.637677411 1.037606186 3.505836279 2.04096442 1.02048221 2 4 3 1 1 2.00E-65 6.98E-272 2.83E-22 3.53E-61 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 20699533 C T ABCB5 CCDS5371.1 r.? - - intronic 31 0 0 110 44 40 57 12 21.1 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.799140899 0.949785225 4 2.327802663 1.029859785 2.260310284 9.497852247 1.725051703 5.505836279 NA NA 0 4 NA 1 1 4.52E-71 0.000025 1.40E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20699976 C T ABCB5 CCDS5371.1 r.? - - intronic 43 0 0 101 38 37.6 46 15 32.6 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.571192445 1.018642104 3.505836279 3.596510275 1.591157772 2.260310284 0 0 1 NA NA 0 4 NA 1 1 2.43E-60 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20700251 C T ABCB5 CCDS5371.1 r.? - - intronic 48 0 0 75 22 29.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.782870708 0.927623569 3 2.846317948 1.259259832 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 9.55E-33 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20700455 C T ABCB5 CCDS5371.1 r.? - - intronic 43 0 0 100 48 48 43 7 16.3 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 4.558969079 1.011791995 4.505836279 1.798255138 1.798255138 1 NA NA 0 0 NA 0 4 NA 1 1 2.57E-82 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 218766002 C T TNS1 CCDS2407.1 r.? - - intronic 33 0 0 51 25 49 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.936087824 1.468043912 2 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 6.52E-44 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20701271 C T ABCB5 CCDS5371.1 r.? - - intronic 28 0 0 64 24 37.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.561694593 1.01593295 3.505836279 2.614640906 1.156761939 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 1.23E-38 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20701274 C T ABCB5 CCDS5371.1 r.? - - intronic 30 0 0 62 24 38.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.67566882 1.048442804 3.505836279 2.382963863 1.054264045 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 4.81E-39 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20702923 C G ABCB5 CCDS5371.1 r.? - - intronic 59 0 0 99 39 39.4 54 11 20.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.742153785 0.935538446 4 2.250576982 0.995693821 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 7.46E-63 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20703188 G A ABCB5 CCDS5371.1 r.? - - intronic 27 0 0 90 57 63.3 26 10 38.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 6.012140472 1.091957728 5.505836279 4.247412442 1.879128044 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 2.49E-107 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20703377 C T ABCB5 CCDS5371.1 r.? - - intronic 30 0 0 45 16 35.6 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.3812354 0.964459014 3.505836279 3.04489827 1.347115169 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 8.61E-26 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20703891 C G ABCB5 CCDS5371.1 r.? - - intronic 53 0 0 89 34 38.2 51 14 27.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.628179558 1.034897032 3.505836279 3.03386603 1.342234317 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.96E-54 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20704164 C A ABCB5 CCDS5371.1 r.? - - intronic 72 0 0 93 33 35.5 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.371737548 0.961749859 3.505836279 2.702898827 1.195808755 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.39E-51 1 1.90E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20705303 C G ABCB5 CCDS5371.1 r.? - - intronic 30 0 0 87 33 37.9 47 15 31.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.599686002 1.026769568 3.505836279 3.519284595 1.556991808 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 9.41E-53 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 20712561 T A CDKAL1 CCDS4546.1 r.? - - intronic 36 0 0 43 15 34.9 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.193773552 0.956364282 2.293868134 1.814255404 1.814255404 1 NA NA 0 NA NA 0 4 NA 1 1 4.05E-24 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 20729584 C A - - - - - - 40 0 0 28 9 32.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.960437126 0.960437126 1 2.564267445 1.282133722 2 NA NA 0 NA NA 0 4 NA 1 1 1.24E-14 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 20779714 A C - - - - - - 43 0 0 77 8 10.4 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.681306988 0.681306988 1 0.882894737 0.882894737 1 NA NA 0 NA NA 1 4 NA 1 1 6.05E-09 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 20807077 A T HS1BP3 ENST00000415264 r.? - - intronic 44 0 0 63 5 7.9 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.473369261 0.473369261 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000173 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 20819569 C G HS1BP3 CCDS1700.1 r.? - - intronic 21 0 0 50 15 30 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.79760479 0.898802395 2 1.131052632 1.131052632 1 NA NA 1 NA NA 1 4 NA 1 1 5.83E-23 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 20821625 G A - - - - - - 40 0 0 55 7 12.7 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 1.188272874 1.188272874 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.28E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 20841440 C T HS1BP3 CCDS1700.1 r.? - - intronic 15 0 0 41 26 63.4 21 8 38.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.798938124 0.949734531 4 4.104105263 1.026026316 4 NA NA 1 NA NA 1 4 NA 1 1 8.79E-50 1 7.50E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 20853896 G A NELL1 CCDS7855.1 r.? - - intronic 55 0 0 47 21 44.7 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.231431138 1.115715569 2 1.358298246 1.358298246 1 NA NA 1 NA NA 1 4 NA 1 1 5.29E-36 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 20857388 G A CDKAL1 CCDS4546.1 r.? - - intronic 74 0 0 49 24 49 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 3.08008321 1.342746413 2.293868134 2.807192483 0.935730828 3 NA NA 0 NA NA 0 4 NA 1 1 3.34E-42 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 20957081 A G - - - - - - 49 0 0 39 9 23.1 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.922155689 0.922155689 1 0.622807018 0.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 3.62E-13 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 223772778 G A ACSL3 CCDS2455.1 r.? - - intronic 49 0 0 50 18 36 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 1.622807018 1.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-29 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 21056831 C A - - - - - - 49 0 0 65 26 40 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 3.74259173 0.935647932 4 1.054146396 1.054146396 1 NA NA 0 NA NA 0 4 NA 1 1 1.24E-42 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 21133432 G C - - - - - - 44 0 0 45 30 66.7 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 6.240771709 1.163354337 5.364463357 2.563240184 1.102778134 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 2.99E-58 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 21194584 G T - - - - - - 49 0 0 35 6 17.1 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.853634731 0.853634731 1 2.416133404 1.022777518 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 2.24E-08 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 226012467 T C - - - - - - 42 0 0 30 14 46.7 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.864271457 0.932135729 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 8.24E-25 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 21252934 T G - - - - - - 57 0 0 45 25 55.6 38 14 36.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 5.202202504 0.96975264 5.364463357 4.083430251 1.756806725 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 8.58E-46 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 21283655 G A - - - - - - 49 0 0 47 10 21.3 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.39536912 1.39536912 1 2.519192982 0.839730994 3 NA NA 0 NA NA 1 4 NA 1 1 4.27E-14 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 21375270 G A - - - - - - 29 0 0 35 22 62.9 31 14 45.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.768978044 0.942244511 4 4.868912281 1.21722807 4 NA NA 1 NA NA 1 4 NA 1 1 3.31E-42 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 228260781 C A - - - - - - 47 0 0 33 6 18.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.726546906 0.726546906 1 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 21383320 G A - - - - - - 28 0 0 22 6 27.3 16 2 12.5 199 0 0 96 32 33.3 128 12 9.4 8.12E-09 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.816820359 0.816820359 1 1.17411513 1.17411513 1 0.996341317 0.996341317 1 0.882934578 0.882934578 1 4 3 1 1 1.09E-09 5.07E-49 0.002863359 3.39E-12 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 21387125 A C - - - - - - 38 0 0 31 4 12.9 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.51497006 0.51497006 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 21388805 G A - - - - - - 59 0 0 39 7 17.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.893570858 0.893570858 1 0.69032383 0.69032383 1 NA NA 0 NA NA 0 4 NA 1 1 1.04E-09 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 238956343 C T - - - - - - 42 0 0 29 10 34.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 1.798245614 0.899122807 2 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 21428762 C G - - - - - - 55 0 0 41 11 26.8 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.605860279 1.605860279 1 0.269298246 0.269298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.34E-16 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 21431953 A G - - - - - - 36 0 0 40 6 15 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.898802395 0.898802395 1 1.303403509 1.303403509 1 NA NA 1 NA NA 1 4 NA 1 1 5.18E-08 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 142210 A C - - - - - - 53 0 0 37 16 43.2 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.78E-27 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 21449431 A C - - - - - - 48 1 2.1 19 9 47.4 25 5 20 148 0 0 110 39 35.5 120 16 13.3 1.16E-13 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.418215569 1.418215569 1 1.878584208 1.878584208 1 1.062165669 1.062165669 1 1.249258499 1.249258499 1 4 3 0.213845552 1 1.72E-16 1.18E-60 0.000000153 2.90E-18 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 1054011 C A - - - - - - 48 0 0 48 5 10.4 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.557695887 0.557695887 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 21502517 T C - - - - - - 23 0 0 47 6 12.8 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.766978044 0.766978044 1 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000141 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 21503614 G A LAMA3 CCDS42419.1 r.? - - intronic 46 0 0 32 6 18.8 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750499002 0.750499002 1 0.394736842 0.394736842 1 NA NA 1 NA NA 1 4 NA 1 1 1.27E-08 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 21503871 C T - - - - - - 51 0 0 49 7 14.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.58E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 21520090 T C - - - - - - 46 0 0 48 16 33.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.305192982 1.152596491 2 NA NA 1 NA NA 1 4 NA 1 1 2.96E-25 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 21569107 G T - - - - - - 64 0 0 55 11 20 49 3 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.310205747 1.310205747 1 0.718087719 0.718087719 1 NA NA 0 NA NA 1 4 NA 1 1 4.77E-15 1 0.001939399 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 21642251 C T KCNIP4 CCDS43217.1 r.? - - intronic 52 0 0 33 16 48.5 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.257076124 1.128538062 2 1.700315789 1.700315789 1 NA NA 0 NA NA 1 4 NA 1 1 1.64E-28 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 21688679 C T TTC39C CCDS45839.1 r.? - - intronic 32 0 0 34 10 29.4 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.173652695 1.173652695 1 0.675438596 0.675438596 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-15 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 21702211 G A KCNIP4 CCDS43217.1 r.? - - upstream 50 0 0 42 8 19 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.884215389 0.884215389 1 0.947877193 0.947877193 1 NA NA 0 NA NA 1 4 NA 1 1 3.96E-11 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 21702935 C A - - - - - - 49 0 0 37 5 13.5 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.538922156 0.538922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 21714538 T A ZNF385D CCDS2636.1 r.? - - intronic 43 0 0 47 10 21.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.142204075 1.142204075 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.27E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 21715502 C T - - - - - - 35 0 0 45 8 17.8 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.11888737 1.11888737 1 0.907127702 0.907127702 1 NA NA 0 NA NA 0 4 NA 1 1 7.14E-11 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 21743465 T C DNAH11 ENST00000424253 r.? - - intronic 61 0 0 63 9 14.3 30 0 0 84 0 0 434 66 15.2 358 0 0 1 FALSE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.999858283 0.999858283 1 0 NA 0 1.062786427 1.062786427 1 0 NA 0 NA NA 1 1 3.62E-11 2.62E-74 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 1679890 C A - - - - - - 53 0 0 35 6 17.1 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.916980737 0.916980737 1 0.953526316 0.953526316 1 NA NA 0 NA NA 1 4 NA 1 1 2.24E-08 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 21793343 G T NBPF3 CCDS216.1 r.? - - intronic 99 0 0 95 15 15.8 48 5 10.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.788738523 0.788738523 1 1.224280702 1.224280702 1 NA NA 0 NA NA 1 4 NA 1 1 2.31E-18 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 21803540 C T - - - - - - 18 0 0 47 8 17 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.068600297 1.068600297 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 21807306 T C NBPF3 CCDS216.1 r.? - - intronic 26 0 0 30 13 43.3 21 7 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.161542914 1.080771457 2 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 1.35E-22 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 1943718 T A - - - - - - 58 0 0 36 4 11.1 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.59523311 0.59523311 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 21826662 T C - - - - - - 37 0 0 21 5 23.8 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.1880998 1.1880998 1 0.302929825 0.302929825 1 NA NA 1 NA NA 1 4 NA 1 1 5.95E-08 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 21849378 G C - - - - - - 42 0 0 57 20 35.1 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.299411085 0.898553972 2.559012765 3.084245614 1.028081871 3 NA NA 0 NA NA 1 4 NA 1 1 9.67E-32 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 21851073 G A - - - - - - 54 0 0 46 5 10.9 54 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.714062132 0.714062132 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 21903657 A G - - - - - - 49 0 0 45 16 35.6 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.909035919 0.95451796 2 0.671 0.671 1 NA NA 0 NA NA 1 4 NA 1 1 8.61E-26 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 21958395 T C - - - - - - 44 0 0 25 5 20 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.798403194 0.798403194 1 0.373432757 0.373432757 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000153 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 22016946 C G ZNF43 CCDS12413.2 r.? - - intronic 36 0 0 42 19 45.2 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 2.256391218 1.128195609 2 1.179157343 1.179157343 1 NA NA 0 NA NA 0 4 NA 1 1 7.64E-33 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 22025395 C A - - - - - - 43 0 0 34 10 29.4 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.467652695 1.467652695 1 0.311759149 0.311759149 1 NA NA 0 NA NA 1 4 NA 1 1 1.15E-15 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 22031042 A G ABCC9 CCDS8693.1 r.? - - intronic 50 0 0 48 8 16.7 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 0.654719298 0.654719298 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-10 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 22046636 C G - - - - - - 45 0 0 38 4 10.5 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.524161677 0.524161677 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 22095072 C T - - - - - - 53 0 0 42 5 11.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.7130499 0.7130499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 2335835 C A CNTN4 CCDS43041.1 r.? - - intronic 35 0 0 43 7 16.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.874081053 0.874081053 1 1.859964912 1.859964912 1 NA NA 0 NA NA 1 4 NA 1 1 2.15E-09 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 22145509 C T - - - - - - 44 0 0 42 26 61.9 34 12 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.709057884 0.927264471 4 3.802491228 0.950622807 4 NA NA 1 NA NA 1 4 NA 1 1 2.30E-49 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 22160585 C T EFHA1 CCDS9297.1 r.? - - intronic 52 0 0 25 14 56 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.235528942 1.117764471 2 3.324561404 1.662280702 2 NA NA 1 NA NA 1 4 NA 1 1 2.58E-26 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 22168797 T C MAPK1 CCDS13795.1 r.? - - intronic 28 0 0 27 6 22.2 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.173256212 1.173256212 1 2.578052632 0.859350877 3 NA NA 0 NA NA 1 4 NA 1 1 4.23E-09 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 8546731 G A LMCD1 CCDS33688.1 r.? - - intronic 42 0 0 54 20 37 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.984110366 0.992055183 2 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.61E-32 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 22222067 T G - - - - - - 53 0 0 30 9 30 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.396129561 1.396129561 1 0.684035088 0.684035088 1 NA NA 0 NA NA 1 4 NA 1 1 2.54E-14 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 22239523 G A ZNF257 CCDS46030.1 r.? - - intronic 52 0 0 40 6 15 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.748802395 0.748802395 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 22290665 T G - - - - - - 33 0 0 32 7 21.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.093251497 1.093251497 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 2.36E-10 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 22296022 C T - - - - - - 52 0 0 47 14 29.8 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.598013213 0.980643613 1.62955552 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-21 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 22304902 T C - - - - - - 47 0 0 46 11 23.9 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.281628047 1.281628047 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 5.55E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 22307083 C A PPM1F CCDS13796.1 r.82g>u c.? p.? 5'UTR variant 12 0 0 16 3 18.8 2 0 0 3 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.993568324 0.993568324 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000667 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 12079581 G T SYN2 ENST00000341648 r.? - - intronic 62 0 0 51 24 47.1 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.525718871 1.262859435 2 2.872350877 0.957450292 3 NA NA 0 NA NA 1 4 NA 1 1 1.20E-41 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 22351194 C T PPP3CC CCDS34859.1 r.? - - intronic 39 0 0 25 8 32 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.95744511 0.95744511 1 2.085228471 2.085228471 1 NA NA 0 NA NA 1 4 NA 1 1 3.92E-13 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 12302987 G A ENSG00000224182 ENST00000445303 r.? - - intronic 24 0 0 40 21 52.5 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.815291735 1.407645868 2 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 5.72E-38 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 22379680 T C - - - - - - 55 0 0 39 13 33.3 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.662341317 0.831170659 2 2.226851064 0.94265209 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 8.79E-21 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 22390778 C G ENSG00000224369 ENST00000412505 r.? - - intronic 45 0 0 40 17 42.5 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.696606786 0.848303393 2 0.903508772 0.903508772 1 NA NA 1 NA NA 1 4 NA 1 1 6.07E-29 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 22407673 C T - - - - - - 51 0 0 18 10 55.6 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.663560878 1.663560878 1 0.707245614 0.707245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-19 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 22427697 A T - - - - - - 56 0 0 36 8 22.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 1.68077193 1.68077193 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-11 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 22428712 T C - - - - - - 44 0 0 49 5 10.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5.338372568 4.32434803 3 2 2 2 0.661627432 0.67565197 4 3 2 2 0.338372568 0.32434803 0.747699631 0.747699631 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 13570073 A T - - - - - - 18 0 0 20 11 55 12 1 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.949353246 1.474676623 2 0.977070175 0.977070175 1 NA NA 0 NA NA 1 4 NA 1 1 7.87E-21 1 0.058377193 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 22457626 G A NCAM2 CCDS42910.1 r.? - - intronic 52 0 0 39 6 15.4 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.008858425 1.008858425 1 0.953526316 0.953526316 1 NA NA 0 NA NA 1 4 NA 1 1 4.43E-08 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 48850165 C T STON1-GTF2A1L CCDS1840.1 r.? - - intronic 53 0 0 66 15 22.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.814187625 0.907093812 2 2.758736842 0.919578947 3 NA NA 1 NA NA 1 4 NA 1 1 6.45E-21 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 22509857 G T NCAM2 CCDS42910.1 r.? - - intronic 40 0 0 44 4 9.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.596143615 0.596143615 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 14487415 T C SLC6A6 CCDS33705.1 r.? - - intronic 32 0 0 59 5 8.5 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.455809138 1.230438467 0.37044448 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 22532315 G A - - - - - - 50 0 0 40 24 60 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 3.47E-45 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 18098884 C T AC139618.1 ENST00000448265 r.? - - intronic 51 0 0 52 16 30.8 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.651637818 1.013551117 1.62955552 0.400245614 0.400245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.33E-24 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 22100123 T C - - - - - - 46 0 0 42 14 33.3 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.785699329 1.095819877 1.62955552 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 2.83E-22 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 22587796 C T - - - - - - 56 0 0 38 8 21.1 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.842315369 0.842315369 1 0.394736842 0.394736842 1 NA NA 1 NA NA 1 4 NA 1 1 1.67E-11 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 22589101 G T - - - - - - 53 0 0 46 4 8.7 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.521305389 0.521305389 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 22590924 G A ZNF98 CCDS46031.1 r.? - - intronic 40 0 0 51 11 21.6 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 1.078275449 1.078275449 1 0.644281847 0.644281847 1 NA NA 0 NA NA 1 4 NA 1 1 1.94E-15 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 22654675 G A - - - - - - 36 0 0 33 7 21.2 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.058307385 1.058307385 1 2.315925106 0.980358174 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 2.98E-10 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 22656036 G T NCAM2 CCDS42910.1 r.? - - intronic 37 0 0 59 7 11.9 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.779572419 0.779572419 1 0.294298246 0.294298246 1 NA NA 0 NA NA 1 4 NA 1 1 2.12E-08 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 22675735 C A - - - - - - 50 0 0 49 23 46.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5.338372568 4.32434803 3 2 2 2 0.661627432 0.67565197 4 3 2 2 0.338372568 0.32434803 3.437952223 1.029828802 3.338372568 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.14E-40 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 22694450 G A PEBP4 CCDS43724.1 r.? - - intronic 40 0 0 18 13 72.2 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.160235529 2.160235529 1 1.408938156 1.408938156 1 NA NA 0 NA NA 1 4 NA 1 1 1.02E-26 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 22700021 G T KIAA0528 CCDS31758.1 r.? - - upstream 43 0 0 36 14 38.9 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.941894212 0.970947106 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.09E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 22761141 G C - - - - - - 54 0 0 45 10 22.2 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.033135875 1.033135875 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.66E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 22372506 T C - - - - - - 58 0 0 35 7 20 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.07249209 1.07249209 1 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 4.65E-10 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 22772140 T A - - - - - - 52 0 0 52 16 30.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 2.46677193 0.82225731 3 NA NA 1 NA NA 1 4 NA 1 1 1.33E-24 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 22791839 G A ENSG00000224154 ENST00000430965 r.? - - downstream 37 0 0 50 16 32 26 12 46.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.07735708 1.03867854 2 5.728015469 1.90933849 3 NA NA 0 NA NA 1 4 NA 1 1 6.40E-25 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 22434270 T C - - - - - - 37 0 0 47 5 10.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.568420807 0.568420807 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 22834169 C A HS3ST2 CCDS10606.1 r.? - - intronic 32 0 0 43 7 16.3 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.058153762 1.058153762 1 1.339016603 1.339016603 1 NA NA 0 NA NA 1 4 NA 1 1 2.15E-09 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 61372071 G A C2orf74 CCDS46298.1 r.? - - upstream 19 0 0 57 15 26.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.1019002 1.0509501 2 1.775298246 1.775298246 1 NA NA 1 NA NA 1 4 NA 1 1 5.53E-22 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 22861670 G A ZNF280B CCDS13799.1 r.? - - intronic 48 0 0 37 11 29.7 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.569626554 1.569626554 1 0.423789474 0.423789474 1 NA NA 0 NA NA 1 4 NA 1 1 3.70E-17 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 22888339 G A NCAM2 CCDS42910.1 r.? - - intronic 56 0 0 61 18 29.5 37 13 35.1 106 0 0 485 188 38.8 465 111 23.9 1.24E-114 TRUE TRUE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.932553476 0.966276738 2 4.131947368 1.377315789 3 2.541799148 0.993273337 2.559012765 2.813491228 0.937830409 3 4 3 1 1 4.08E-27 9.28E-295 3.89E-21 2.80E-147 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 22926678 T G - - - - - - 63 0 0 50 6 12 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.643495254 0.643495254 1 0.623912281 0.623912281 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000206 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 22967263 C T - - - - - - 47 0 0 31 8 25.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.200671423 1.200671423 1 1.348526316 1.348526316 1 NA NA 0 NA NA 1 4 NA 1 1 2.78E-12 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 22581915 C A - - - - - - 63 0 0 34 14 41.2 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.209333705 1.104666852 2 1.271368421 1.271368421 1 NA NA 0 NA NA 1 4 NA 1 1 7.74E-24 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 22986664 T G - - - - - - 42 0 0 53 22 41.5 46 1 2.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5.338372568 4.32434803 3 2 2 2 0.661627432 0.67565197 4 3 2 2 0.338372568 0.32434803 3.042111242 1.014037081 3 0.244118113 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.50E-37 1 0.205924651 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 26204241 G A - - - - - - 40 0 0 43 5 11.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.622045412 0.622045412 1 1.730473684 1.730473684 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000257 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 23091810 C T EPHB2 CCDS230.1 r.? - - intronic 18 0 0 48 15 31.2 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.557508982 0.778754491 2 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 2.86E-23 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 23113523 T A - - - - - - 46 0 0 35 16 45.7 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.824351297 0.912175649 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 5.66E-28 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 23175539 C T - - - - - - 46 0 0 45 19 42.2 33 4 12.1 2 1 50 4 0 0 2 0 0 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 2.106630739 1.053315369 2 1.470907613 1.470907613 1 0 NA 0 0 NA 0 4 NA 1 0.009975 4.11E-32 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 23207051 C G - - - - - - 55 0 0 40 20 50 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.859649123 1.859649123 1 NA NA 1 NA NA 1 4 NA 1 1 1.19E-35 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23240030 C T NUPL2 CCDS5379.1 r.1197c>u c.938C>T p.S313L missense 47 0 0 92 21 22.8 44 6 13.6 191 0 0 200 52 26 352 10 2.8 0.003264971 TRUE TRUE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.594179641 0.79708982 2 1.500384655 1.500384655 1 1.817924152 0.908962076 2 0.308902723 1.186671224 0.260310284 4 3 1 1 9.72E-29 4.10E-72 9.37E-08 0.0000147 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23240901 C T NUPL2 CCDS5379.1 r.? - - downstream 54 0 0 65 16 24.6 45 6 13.3 178 1 0.6 252 52 20.6 158 15 9.5 9.60E-11 TRUE TRUE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.720035928 0.860017964 2 1.467287934 1.467287934 1 1.440355289 0.720177645 2 1.04806281 1.04806281 1 4 3 1 0.590259991 7.85E-23 2.67E-66 0.000000108 5.74E-15 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23241050 C T NUPL2 CCDS5379.1 r.? - - downstream 39 0 0 68 26 38.2 40 6 15 33 0 0 48 7 14.6 25 3 12 0.001950677 TRUE TRUE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.6709501 0.8903167 3 1.654836016 1.654836016 1 1.020834331 1.020834331 1 1.323868813 1.323868813 1 4 3 1 1 5.33E-42 4.81E-09 5.18E-08 0.00026475 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23241367 C T NUPL2 CCDS5379.1 r.? - - downstream 29 0 0 63 14 22.2 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.552227545 1.552227545 1 2.758060027 1.220213015 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.81E-19 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23241640 C T NUPL2 CCDS5379.1 r.? - - downstream 42 0 0 68 20 29.4 49 5 10.2 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.055652695 1.027826347 2 1.125288491 1.125288491 1 6.992015968 6.992015968 1 NA NA 0 4 NA 1 1 6.23E-30 0.005 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 23247713 T A - - - - - - 61 0 0 39 11 28.2 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.407748503 1.407748503 1 0.605859649 0.605859649 1 NA NA 1 NA NA 1 4 NA 1 1 7.20E-17 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 23256838 G A - - - - - - 33 0 0 33 17 51.5 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.721743015 1.005417258 2.707078074 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 8.25E-31 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 23262051 G C - - - - - - 57 0 0 33 11 33.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.549703813 1.549703813 1 2.609105263 1.304552632 2 NA NA 0 NA NA 1 4 NA 1 1 8.54E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23293511 T C - - - - - - 53 0 0 49 16 32.7 50 19 38 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.142186396 1.071093198 2 4.473333333 1.491111111 3 NA NA 0 NA NA 1 4 NA 1 1 4.37E-25 1 5.00E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 23304394 G A - - - - - - 62 0 0 69 8 11.6 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.729162556 0.729162556 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.49E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23324752 C T AC006039.1 ENST00000504702 r.? - - intronic 53 0 0 82 21 25.6 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.789956088 0.894978044 2 2.923543629 1.293425796 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 6.53E-30 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 44962054 C A ZDHHC3 CCDS46810.1 r.? - - intronic 50 0 0 38 6 15.8 45 0 0 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.104738523 1.104738523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.76E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 23343967 C G - - - - - - 47 0 0 37 5 13.5 17 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.713466616 0.713466616 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 23373310 G A PTCHD1 CCDS35215.2 r.? - - intronic 28 0 0 54 10 18.5 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.338372568 4.32434803 3 2 2 2 0.661627432 0.67565197 4 3 2 2 0.338372568 0.32434803 1.356121879 1.356121879 1 1.80869329 1.80869329 1 NA NA 1 NA NA 0 4 NA 1 1 1.91E-13 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 55556232 G A ERC2 CCDS46851.1 r.? - - intronic 55 0 0 44 10 22.7 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.213575771 1.213575771 1 0.977070175 0.977070175 1 NA NA 0 NA NA 1 4 NA 1 1 2.08E-14 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 23393083 T C - - - - - - 39 0 0 30 7 23.3 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.163139721 1.163139721 1 0.517912281 0.517912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-10 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 61395202 A G - - - - - - 47 0 0 32 6 18.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.005075969 1.005075969 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.27E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23426822 C T IGF2BP3 CCDS5382.1 r.? - - intronic 42 0 0 74 23 31.1 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 8.289880778 NA 6 NA 2 NA 0.710119222 NA 6 NA 3 NA 0.289880778 NA NA 1 3.50940187 0.945900026 3.710119222 NA NA 1 NA NA 0 NA NA 1 1 7.70E-35 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81335399 G A - - - - - - 37 0 0 46 19 41.3 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.474702595 1.237351297 2 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 6.97E-32 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23428654 C G IGF2BP3 CCDS5382.1 r.? - - intronic 45 0 0 78 30 38.5 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.693302385 0.97744141 4.801620163 4.74447034 1.007293046 4.710119222 NA NA 1 NA NA 0 4 NA 1 1 2.54E-48 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 66565072 C T - - - - - - 50 0 0 51 17 33.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.780267541 1.081659289 1.645867197 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 9.59E-27 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23429247 C T IGF2BP3 CCDS5382.1 r.? - - intronic 50 0 0 92 36 39.1 46 9 19.6 130 2 1.5 536 162 30.2 428 81 18.9 2.36E-75 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.76644476 0.992674264 4.801620163 2.952114878 0.984038293 3 3.681499533 0.96840278 3.801620163 2.846682204 1.050390027 2.710119222 4 3 1 0.138325346 5.21E-58 4.31E-233 1.82E-12 5.48E-99 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 69954667 A T MITF CCDS43106.1 r.? - - intronic 58 0 0 44 11 25 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.336537193 1.336537193 1 0.835807018 0.835807018 1 NA NA 0 NA NA 1 4 NA 1 1 3.22E-16 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23430198 C T IGF2BP3 CCDS5382.1 r.? - - intronic 39 0 0 81 33 40.7 47 8 17 184 0 0 628 225 35.8 438 76 17.4 8.20E-68 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.961491093 0.992298219 5 2.560507802 0.944795263 2.710119222 4.364161698 1.091040425 4 2.620755045 0.967025739 2.710119222 4 3 1 1 4.96E-54 0 1.03E-10 6.56E-90 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23430290 C T IGF2BP3 CCDS5382.1 r.? - - intronic 42 0 0 89 36 40.4 55 13 23.6 131 0 0 392 126 32.1 292 57 19.5 2.33E-54 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.924919905 0.984983981 5 3.554587302 0.958078997 3.710119222 3.913117053 0.978279263 4 2.937053067 0.979017689 3 4 3 1 1 1.17E-58 1.08E-185 1.46E-18 5.18E-71 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23430541 C T IGF2BP3 CCDS5382.1 r.? - - intronic 25 0 0 83 33 39.8 38 12 31.6 2 0 0 1 0 0 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.85177753 1.010445926 4.801620163 4.75953215 1.010490802 4.710119222 0 NA 0 NA NA 0 4 NA 1 1 1.36E-53 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23431850 C T IGF2BP3 CCDS5382.1 r.? - - intronic 54 0 0 75 33 44 43 12 27.9 147 0 0 501 170 33.9 466 83 17.8 7.10E-75 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 5.363774154 1.072754831 5 4.202245158 1.05056129 4 4.132544178 1.033136044 4 2.681002287 0.989256216 2.710119222 4 3 1 1 1.93E-55 1.16E-254 3.24E-18 4.94E-99 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23431854 C T IGF2BP3 CCDS5382.1 r.? - - intronic 55 0 0 74 33 44.6 43 12 27.9 150 0 0 508 174 34.3 472 82 17.4 4.53E-73 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 5.436916529 0.937137623 5.801620163 4.202245158 1.05056129 4 4.181305761 1.04532644 4 2.620755045 0.967025739 2.710119222 4 3 1 1 1.09E-55 1.82E-261 3.24E-18 6.53E-97 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23433651 C A IGF2BP3 CCDS5382.1 r.? - - intronic 48 0 0 100 38 38 60 7 11.7 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.632350406 0.964747366 4.801620163 1.76223184 1.76223184 1 NA NA 0 0 NA 0 4 NA 1 1 1.52E-60 1 2.39E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23434102 C T IGF2BP3 CCDS5382.1 r.? - - intronic 33 0 0 108 39 36.1 67 22 32.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.400732886 0.916509998 4.801620163 4.940273878 0.988054776 5 NA NA 1 NA NA 0 4 NA 1 1 4.93E-61 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 23464455 A G - - - - - - 51 0 0 36 6 16.7 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 1.182403509 1.182403509 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-08 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 23488416 T G GGA2 CCDS10611.1 r.? - - intronic 40 1 2.5 31 7 22.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.467133438 1.467133438 1 2.330880753 0.981990779 2.373627945 NA NA 0 NA NA 1 4 NA 0.181679879 1 1.85E-10 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 76647034 T C ROBO2 ENST00000487694 r.? - - intronic 49 0 0 33 7 21.2 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.13338354 1.13338354 1 1.624526316 1.624526316 1 NA NA 0 NA NA 1 4 NA 1 1 2.98E-10 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23537142 C T - - - - - - 51 0 0 59 7 11.9 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.779572419 0.779572419 1 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 2.12E-08 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 23549857 C A - - - - - - 57 0 0 45 20 44.4 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.21645509 1.108227545 2 1.954385965 1.954385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-34 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 23554079 C T - - - - - - 30 0 0 23 11 47.8 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.224499767 1.112249884 2 2.442982456 1.221491228 2 NA NA 0 NA NA 1 4 NA 1 1 6.25E-20 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23583098 T A - - - - - - 53 0 0 55 20 36.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.384574459 0.931833749 2.559012765 2.413245614 0.804415205 3 NA NA 0 NA NA 1 4 NA 1 1 4.08E-32 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 23594509 C T AC022409.1 ENST00000501220 r.? - - upstream 39 0 0 46 7 15.2 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.758786427 0.758786427 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 3.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 23601951 C A - - - - - - 28 0 0 37 10 27 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.347844311 1.347844311 1 2.026434468 2.026434468 1 NA NA 0 NA NA 0 4 NA 1 1 3.01E-15 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 23608785 C A UBE2E2 CCDS2637.1 r.? - - intronic 59 0 0 41 12 29.3 35 5 14.3 182 1 0.5 399 86 21.6 348 35 10.1 7.02E-24 TRUE TRUE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.571200911 1.571200911 1 1.683385965 1.683385965 1 1.158291457 1.158291457 1 1.188964912 1.188964912 1 4 3 1 0.598393535 1.69E-18 2.75E-110 0.000000895 9.43E-34 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 23612465 G T - - - - - - 30 0 0 65 46 70.8 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.338372568 4.32434803 3 2 2 2 0.661627432 0.67565197 4 3 2 2 0.338372568 0.32434803 5.189915083 1.55462429 3.338372568 2.219255571 0.954786264 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.60E-90 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 23620876 G T - - - - - - 34 0 0 27 12 44.4 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.790932541 1.216692669 2.293868134 2.660090694 1.058343505 2.513447365 NA NA 0 NA NA 0 4 NA 1 1 3.96E-21 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 23621153 G T PALB2 CCDS32406.1 r.? - - intronic 21 0 0 46 6 13 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.843926314 0.843926314 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 23624186 A G - - - - - - 43 0 0 32 8 25 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.571471026 1.571471026 1 1.801996922 1.801996922 1 NA NA 0 NA NA 0 4 NA 1 1 3.69E-12 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 23662987 A G KLHL29 ENST00000486442 r.? - - intronic 55 0 0 50 12 24 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.438083832 1.438083832 1 1.303403509 1.303403509 1 NA NA 1 NA NA 1 4 NA 1 1 2.49E-17 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 23666235 G T - - - - - - 51 0 0 51 19 37.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.34463477 1.022131453 2.293868134 2.831709448 0.943903149 3 NA NA 0 NA NA 0 4 NA 1 1 7.94E-31 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23693832 A G - - - - - - 55 0 0 88 10 11.4 41 0 0 0 0 NA 2 0 0 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.389705122 1.389705122 1 0 NA 0 0 0 1 NA NA 0 NA NA 1 1 3.09E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 23706578 T C ENSG00000224148 ENST00000451785 r.? - - intronic 58 0 0 30 14 46.7 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.864271457 0.932135729 2 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 8.24E-25 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23713380 C T - - - - - - 22 0 0 47 20 42.6 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.79073824 1.090552684 2.559012765 1.094789474 1.094789474 1 NA NA 0 NA NA 1 4 NA 1 1 8.18E-34 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 23717142 C T - - - - - - 61 1 1.6 45 24 53.3 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.660744511 1.330372255 2 1.469721702 1.469721702 1 NA NA 0 NA NA 0 4 NA 0.263440347 1 2.03E-43 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 23740989 A C - - - - - - 48 0 0 56 20 35.7 46 7 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.244060625 0.978286673 2.293868134 1.863289334 1.863289334 1 NA NA 0 NA NA 0 4 NA 1 1 6.31E-32 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23745517 G A - - - - - - 38 0 0 51 11 21.6 52 6 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.415022206 1.415022206 1 1.35377193 1.35377193 1 NA NA 0 NA NA 1 4 NA 1 1 1.94E-15 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23758835 G T STK31 CCDS43556.1 r.? - - intronic 43 0 0 107 41 38.3 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.668921593 0.972363793 4.801620163 4.021503431 1.005375858 4 NA NA 1 NA NA 0 4 NA 1 1 2.22E-65 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 23770750 G A ASAP3 CCDS44087.1 r.? - - intronic 33 0 0 35 11 31.4 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.567493014 1.567493014 1 1.883508772 1.883508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.82E-17 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 23789710 G A KLHL29 ENST00000486442 r.? - - intronic 36 0 0 45 19 42.2 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.528630739 0.842876913 3 2.692982456 0.897660819 3 NA NA 1 NA NA 1 4 NA 1 1 4.11E-32 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 23792246 C T ASAP3 CCDS44087.1 r.? - - intronic 36 0 0 38 18 47.4 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.366215569 1.183107784 2 2.66045614 0.886818713 3 NA NA 0 NA NA 1 4 NA 1 1 1.16E-31 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 23795414 A T - - - - - - 46 0 0 43 9 20.9 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.043331337 1.043331337 1 0.367430425 0.367430425 1 NA NA 0 NA NA 0 4 NA 1 1 9.45E-13 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 23799215 G A SAT1 CCDS14207.1 r.? - - upstream 11 0 0 61 34 55.7 20 6 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 5.339428226 0.987691261 5.405968884 3.328883356 1.432179395 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 8.06E-62 1 5.70E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 23827410 C T SOX5 CCDS8699.1 r.? - - intronic 26 0 0 33 16 48.5 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.421127745 1.210563872 2 1.543964912 1.543964912 1 NA NA 1 NA NA 1 4 NA 1 1 1.64E-28 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 23845033 C T SOX5 CCDS8699.1 r.? - - intronic 39 0 0 40 9 22.5 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.123203593 1.123203593 1 0.889245614 0.889245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.64E-13 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 23851187 G A - - - - - - 48 0 0 30 11 36.7 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46506986 1.46506986 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 2.44E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 23858000 G T - - - - - - 44 0 0 63 18 28.6 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 1.959889545 0.979944773 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 7.98E-27 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81151642 A T - - - - - - 61 0 0 57 11 19.3 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.031806713 1.031806713 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.29E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81520064 C T - - - - - - 58 0 0 35 7 20 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.069229754 1.069229754 1 1.106561404 1.106561404 1 NA NA 0 NA NA 1 4 NA 1 1 4.65E-10 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23927858 A G - - - - - - 53 0 0 54 21 38.9 50 16 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.548350177 0.99583332 2.559012765 3.767017544 1.255672515 3 NA NA 0 NA NA 1 4 NA 1 1 2.12E-34 1 6.40E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81847345 C T - - - - - - 52 0 0 54 9 16.7 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.892806845 0.892806845 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 8.48E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 83177678 C A - - - - - - 59 0 0 37 6 16.2 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.866076101 0.866076101 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 23964170 G A GGTLC1 CCDS13163.1 r.? - - downstream 27 0 0 30 7 23.3 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.163139721 1.163139721 1 0.857337659 0.857337659 1 NA NA 0 NA NA 0 4 NA 1 1 1.44E-10 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 23972647 G T - - - - - - 53 0 0 64 25 39.1 25 11 44 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.457780684 1.071456832 2.293868134 5.393732282 1.797910761 3 NA NA 0 NA NA 1 4 NA 1 1 9.90E-41 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 24031479 C G - - - - - - 40 0 0 20 5 25 7 2 28.6 3 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.248003992 1.248003992 1 3.184397021 3.184397021 1 NA NA 0 NA NA 0 4 NA 1 1 4.55E-08 1 0.000516315 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 24045590 G A JPH4 CCDS9603.1 r.1358c>u c.455C>T p.A152V missense 14 0 0 22 6 27.3 5 1 20 49 0 0 2 0 0 2 0 0 1 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 1.754385965 1.754385965 1 0 0 1 0 0 1 4 NA 1 1 1.09E-09 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 24048826 C T - - - - - - 18 0 0 27 12 44.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.21645509 1.108227545 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 3.96E-21 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 24054212 T A - - - - - - 33 0 0 40 5 12.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.624001996 0.624001996 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 24085663 T G - - - - - - 53 0 0 33 16 48.5 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.257076124 1.128538062 2 1.221491228 1.221491228 1 NA NA 0 NA NA 1 4 NA 1 1 1.64E-28 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 24092070 G C EIF2S3 CCDS14210.1 r.? - - intronic 32 0 0 69 4 5.8 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.555990731 0.555990731 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000416985 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 24116499 G A - - - - - - 25 0 0 33 17 51.5 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.570888224 1.285444112 2 1.313842127 1.313842127 1 NA NA 0 NA NA 1 4 NA 1 1 8.25E-31 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 24129889 C T PRKCB CCDS10619.1 r.? - - intronic 41 0 0 56 22 39.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.551254163 1.020613971 2.499724906 2.653236602 0.884412201 3 NA NA 0 NA NA 0 4 NA 1 1 4.34E-36 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 24155987 C T - - - - - - 48 0 0 61 23 37.7 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.469737832 0.965113526 2.559012765 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 3.73E-37 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 24190834 G A - - - - - - 52 0 0 52 22 42.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.968542681 0.984271341 2 2.697052632 1.348526316 2 NA NA 0 NA NA 1 4 NA 1 1 5.59E-37 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84863714 G T - - - - - - 54 0 0 51 15 29.4 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.571767739 0.954978471 1.645867197 0.576824561 0.576824561 1 NA NA 0 NA NA 1 4 NA 1 1 8.22E-23 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 24217457 G A ZFX CCDS14211.1 r.? - - intronic 34 0 0 59 6 10.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.977776803 0.977776803 1 2.152677904 0.926142676 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 0.000000561 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84938753 G T - - - - - - 40 0 0 38 8 21.1 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.128037391 1.128037391 1 0.65922807 0.65922807 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 89414930 G A EPHA3 CCDS2922.1 r.? - - intronic 44 0 0 43 7 16.3 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.87142225 0.87142225 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.15E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 24228476 G C ZFX CCDS14211.1 r.1828g>c c.1401G>C p.K467N missense 46 0 0 81 10 12.3 37 0 0 230 0 0 517 15 2.9 350 0 0 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 1.179083791 1.179083791 1 0 NA 0 0.277995365 0.277995365 1 0 NA 0 NA NA 1 1 1.33E-11 9.17E-08 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b X 24228546 G A ZFX CCDS14211.1 r.1898g>a c.1471G>A p.D491N missense 40 0 0 79 12 15.2 40 0 0 264 0 0 574 28 4.9 372 1 0.3 0.97621559 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 1.457079157 1.457079157 1 0 NA 0 0.469716307 0.790726772 0.594031116 0.033288834 NA 0 NA NA 1 1 9.17E-15 7.95E-19 1 0.845051978 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 96707217 T C EPHA6 CCDS46876.1 r.? - - intronic 43 0 0 34 10 29.4 15 0 0 108 0 0 341 59 17.3 230 6 2.6 0.029248379 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.571767739 1.571767739 1 0 0 1 0.924883737 0.924883737 1 0.306070175 0.306070175 1 4 3 1 1 1.15E-15 4.08E-70 1 0.001161255 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 21 24250717 A C - - - - - - 55 0 0 68 26 38.2 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.502492976 0.97791344 2.559012765 3.260824561 1.08694152 3 NA NA 0 NA NA 1 4 NA 1 1 5.33E-42 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 24267647 C T - - - - - - 60 0 0 56 7 12.5 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 0.856595081 0.856595081 1 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 1.46E-08 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 24288719 C A - - - - - - 42 0 0 34 6 17.6 28 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.70259481 0.70259481 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 24289841 G T - - - - - - 53 0 0 63 6 9.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 0.651012261 0.651012261 1 1.271368421 1.271368421 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000832 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 24324646 G C NPY CCDS5387.1 r.241g>c c.? p.? 5'UTR variant 17 0 0 65 6 9.2 17 0 0 1 0 0 1 0 0 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.121516414 1.121516414 1 0 NA 0 0 NA 0 NA NA 0 NA NA 1 1 0.000001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 24398096 T A - - - - - - 39 0 0 34 13 38.2 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.5249501 1.5249501 1 1.052631579 1.052631579 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-21 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 24404504 A C - - - - - - 53 0 0 71 10 14.1 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 0.966239251 0.966239251 1 0.235438596 0.235438596 1 NA NA 0 NA NA 1 4 NA 1 1 3.42E-12 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 97287167 C A EPHA6 CCDS46876.1 r.? - - intronic 45 0 0 45 6 13.3 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.711037787 0.711037787 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 24415713 A C - - - - - - 50 0 0 106 11 10.4 48 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.267801164 1.267801164 1 0.316298023 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.78E-12 1 0.213845552 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 24440915 G A DHRS4 CCDS9605.1 r.? - - downstream 43 0 0 33 12 36.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 1.210526316 1.210526316 1 NA NA 1 NA NA 1 4 NA 1 1 7.86E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 24447632 A G - - - - - - 44 0 0 49 8 16.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.067817683 1.067817683 1 1.812877193 1.812877193 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 24452971 T A - - - - - - 61 0 0 92 4 4.3 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.52418702 0.52418702 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.001230545 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 24472980 C A - - - - - - 48 0 0 96 11 11.5 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.401895518 1.401895518 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.92E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 24478140 T A CABIN1 CCDS13823.1 r.? - - intronic 28 0 0 32 14 43.8 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.314802797 0.855092736 2.707078074 3.920052632 0.980013158 4 NA NA 0 NA NA 1 4 NA 1 1 2.65E-24 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 24478149 C A CABIN1 CCDS13823.1 r.? - - intronic 32 0 0 29 13 44.8 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.367652176 0.874615401 2.707078074 3.767017544 0.941754386 4 NA NA 0 NA NA 1 4 NA 1 1 7.69E-23 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 24479424 T A PDK3 CCDS48088.1 r.? - - upstream 48 0 0 72 5 6.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.661437249 0.661437249 1 2.396796017 1.031169165 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 0.0000331 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 24484890 G T - - - - - - 62 0 0 43 13 30.2 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.507588822 1.507588822 1 0.752438596 0.752438596 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-20 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 24497953 T A - - - - - - 48 0 0 45 4 8.9 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.583041557 0.583041557 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 97828285 C A OR5AC2 ENST00000394195 r.? - - downstream 33 0 0 38 8 21.1 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.128037391 1.128037391 1 1.895280702 1.895280702 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 24600985 A T - - - - - - 50 0 0 62 5 8.1 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 0.555073612 0.555073612 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 24611540 T A KIAA1217 CCDS31165.1 r.? - - intronic 60 0 0 25 12 48 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.916167665 0.958083832 2 1.859649123 1.859649123 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-21 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 105555894 G A CBLB CCDS2948.1 r.? - - intronic 46 0 0 55 9 16.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.876768399 0.876768399 1 2.413245614 0.804415205 3 NA NA 0 NA NA 1 4 NA 1 1 1.01E-11 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 24719331 A C - - - - - - 45 0 0 26 5 19.2 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.766467066 0.766467066 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000188 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 24723785 T C CHST9 CCDS42422.1 r.? - - intronic 41 0 0 18 5 27.8 17 1 5.9 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.109780439 1.109780439 1 0.51754386 0.51754386 1 NA NA 1 0 0 1 4 NA 1 1 2.54E-08 1 0.081683532 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 24767605 A G - - - - - - 41 0 0 46 24 52.2 38 12 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 3.577141058 0.894285264 4 3.719929825 0.929982456 4 NA NA 0 NA NA 1 4 NA 1 1 4.23E-43 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 24806051 C G - - - - - - 48 0 0 36 4 11.1 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.59523311 0.59523311 1 0.718087719 0.718087719 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000324 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 24835905 G T - - - - - - 52 0 0 47 15 31.9 50 5 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.089778166 1.044889083 2 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 1.97E-23 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 108395917 G A DZIP3 CCDS2952.1 r.? - - intronic 59 0 0 34 13 38.2 36 11 30.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.042228831 1.021114415 2 3.602210526 1.200736842 3 NA NA 0 NA NA 1 4 NA 1 1 1.03E-21 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 24890600 C A - - - - - - 52 0 0 62 6 9.7 55 1 1.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.635449787 0.635449787 1 0.211894737 0.211894737 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000756 1 0.240951649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 24900927 T C CCDC149 ENST00000504487 r.? - - intronic 51 0 0 29 4 13.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.642219598 0.642219598 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 109606071 T A - - - - - - 49 0 0 48 12 25 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.336537193 1.336537193 1 2.848807018 0.949602339 3 NA NA 0 NA NA 1 4 NA 1 1 1.44E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 24926863 G A LUZP2 CCDS31446.1 r.? - - intronic 46 0 0 40 7 17.5 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.873602794 0.873602794 1 1.12377193 1.12377193 1 NA NA 1 NA NA 1 4 NA 1 1 1.26E-09 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 110427962 C T - - - - - - 50 0 0 28 10 35.7 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.908575111 0.954287556 2 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.18E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 24945895 C T - - - - - - 66 0 0 54 8 14.8 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.969552252 0.969552252 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 3.31E-10 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 24949289 C T C22orf13 CCDS33621.1 r.? - - intronic 45 0 0 24 9 37.5 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.98185171 0.990925855 2 3.767017544 0.941754386 4 NA NA 0 NA NA 1 4 NA 1 1 2.39E-15 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 24987978 T C - - - - - - 48 0 0 46 14 30.4 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.630187976 1.000388116 1.62955552 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.26E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 118520910 C A - - - - - - 30 0 0 37 4 10.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.577384067 0.577384067 1 2.213122807 1.106561404 2 NA NA 0 NA NA 1 4 NA 1 1 0.0000362 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 25002342 A C ARHGAP17 CCDS32409.1 r.? - - intronic 49 0 0 41 11 26.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.739786554 0.869893277 2 3.979854903 1.326618301 3 NA NA 0 NA NA 1 4 NA 1 1 1.34E-16 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 127728151 C A - - - - - - 53 0 0 50 18 36 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-29 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 25080609 T C LUZP2 CCDS31446.1 r.? - - intronic 55 0 0 50 10 20 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.36E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 25091661 C T - - - - - - 42 0 0 91 6 6.6 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.804566123 0.804566123 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000724 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25117356 C A - - - - - - 39 0 0 78 8 10.3 34 2 5.9 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.98736285 0.98736285 1 0.654680393 0.654680393 1 0 NA 0 NA NA 0 4 NA 1 1 6.71E-09 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 25119717 C T AC106810.1 ENST00000515097 r.? - - intronic 10 0 0 21 7 33.3 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 2.061403509 2.061403509 1 NA NA 1 NA NA 1 4 NA 1 1 8.54E-12 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 25132198 C T - - - - - - 48 0 0 51 22 43.1 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.823493384 1.103352599 2.559012765 2.848807018 0.949602339 3 NA NA 0 NA NA 1 4 NA 1 1 3.24E-37 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 25157058 G C CYCS CCDS5393.1 r.? - - downstream 39 0 0 78 13 16.7 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.035796099 1.01789805 2 2.349642454 0.866988594 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.99E-16 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25202953 C G - - - - - - 50 0 0 67 5 7.5 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.718953531 0.718953531 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000233 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25214434 C G - - - - - - 56 0 0 73 5 6.8 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.651851202 0.651851202 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000354 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 119391107 T C COX17 CCDS2993.1 r.? - - intronic 42 0 0 33 13 39.4 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.106382616 1.053191308 2 0.388473684 0.388473684 1 NA NA 0 NA NA 1 4 NA 1 1 6.37E-22 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 25260742 A C - - - - - - 52 0 0 43 14 32.6 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.049198217 1.024599109 2 3.248497852 1.082832617 3 NA NA 0 NA NA 1 4 NA 1 1 4.18E-22 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 25272387 A T ZKSCAN2 CCDS32410.1 r.? - - upstream 36 0 0 55 12 21.8 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.415199511 1.415199511 1 1.239830188 1.239830188 1 NA NA 0 NA NA 0 4 NA 1 1 8.78E-17 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 25319704 T C - - - - - - 22 0 0 15 6 40 11 2 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 1.596806387 1 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 7.52E-11 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 25328983 C G - - - - - - 53 0 0 35 8 22.9 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.914171657 0.914171657 1 1.166666667 1.166666667 1 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 25329783 G C LRRC16A ENST00000329474 r.? - - intronic 50 0 0 54 9 16.7 51 6 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.049742645 1.049742645 1 1.44650093 1.44650093 1 NA NA 0 NA NA 1 4 NA 1 1 8.48E-12 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 126915038 G A C3orf56 ENST00000398112 r.? - - intronic 21 0 0 42 7 16.7 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.8923457 0.8923457 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.81E-09 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 25337580 T A - - - - - - 37 0 0 53 8 15.1 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.989205339 0.989205339 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.83E-10 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 25337585 C G - - - - - - 36 0 0 50 9 18 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.179185172 1.179185172 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.07E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 25370874 T C STXBP6 CCDS9634.1 r.? - - intronic 46 0 0 42 18 42.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 0.856287425 2 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 1 1 1.20E-30 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 25410806 G A LRRC16A ENST00000329474 r.? - - intronic 51 0 0 42 11 26.2 27 0 0 186 0 0 167 20 12 195 6 3.1 0.014317176 TRUE TRUE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.646901635 1.646901635 1 0 0 1 0.754306092 0.754306092 1 0.380012956 0.781031544 0.486552635 4 3 1 1 1.81E-16 1.69E-21 1 0.000493817 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 3 132020892 C T - - - - - - 56 0 0 47 11 23.4 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.250352658 1.250352658 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.21E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 25426518 T C - - - - - - 48 0 0 28 16 57.1 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 4.39E-30 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 25488772 C A - - - - - - 55 0 0 32 26 81.2 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 3.241516966 1.620758483 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.31E-54 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 25517898 G A RARB CCDS2642.1 r.? - - intronic 43 0 0 33 6 18.2 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.975967802 0.975967802 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 25553148 C T - - - - - - 34 0 0 46 16 34.8 48 6 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.259125824 0.903749776 2.499724906 1.549787735 1.549787735 1 NA NA 0 NA NA 0 4 NA 1 1 1.31E-25 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 25592330 G T - - - - - - 21 0 0 33 18 54.5 10 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.175648703 1.087824351 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 3.68E-33 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 137186174 C A - - - - - - 50 0 0 37 5 13.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.721357303 0.721357303 1 1.271368421 1.271368421 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000119 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 25598507 C T - - - - - - 64 0 0 50 17 34 43 12 27.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.207191897 1.103595949 2 3.459126224 1.153042075 3 NA NA 0 NA NA 0 4 NA 1 1 6.43E-27 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 25653512 C A IFLTD1 CCDS44849.1 r.? - - intronic 49 0 0 37 12 32.4 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.617413174 0.808706587 2 1.671 1.671 1 NA NA 1 NA NA 1 4 NA 1 1 4.03E-19 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 25656293 C T UBE3A CCDS45191.1 r.? - - intronic 49 0 0 34 17 50 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 2.496007984 1.248003992 2 1.984144749 0.992072375 2 NA NA 0 NA NA 0 4 NA 1 1 1.64E-30 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 25724402 A G GPR158 CCDS31166.1 r.? - - intronic 40 0 0 32 4 12.5 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 25761619 C T - - - - - - 37 0 0 45 8 17.8 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.888578842 0.888578842 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.14E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 25777720 G C - - - - - - 67 0 0 54 7 13 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.851633735 0.851633735 1 0.423789474 0.423789474 1 NA NA 0 NA NA 1 4 NA 1 1 1.13E-08 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25781485 A G - - - - - - 38 0 0 55 5 9.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.872330285 0.872330285 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25802328 T A - - - - - - 51 0 0 76 7 9.2 38 0 0 48 0 0 306 27 8.8 170 0 0 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.881916332 0.881916332 1 0 NA 0 0.843572143 0.843572143 1 0 NA 0 NA NA 1 1 0.000000126 7.10E-25 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 11 25815535 C T - - - - - - 21 0 0 41 10 24.4 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 0.723122807 0.723122807 1 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 137646145 C T - - - - - - 55 0 0 55 8 14.5 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.774791177 0.774791177 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 3.86E-10 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 25898633 A C EBF2 CCDS43726.1 r.? - - intronic 25 0 0 21 6 28.6 18 2 11.1 274 0 0 46 11 23.9 52 3 5.8 0.015352626 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.855716567 0.855716567 1 1.042614236 1.042614236 1 0.715091816 0.715091816 1 0.54478942 0.54478942 1 4 3 1 1 7.95E-10 5.55E-16 0.003626632 0.002300591 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 21 25942893 T C - - - - - - 55 0 0 55 7 12.7 53 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.831980649 0.831980649 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.28E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 26031768 G T MAN1C1 CCDS265.1 r.? - - intronic 46 0 0 33 10 30.3 41 14 34.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.512580838 1.512580838 1 4.01422807 1.338076023 3 NA NA 0 NA NA 1 4 NA 1 1 8.14E-16 1 1.90E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 26036985 G T - - - - - - 61 0 0 26 16 61.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.45508982 1.22754491 2 1.807017544 1.807017544 1 NA NA 1 NA NA 1 4 NA 1 1 7.73E-31 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 26051370 C A - - - - - - 40 0 0 27 15 55.6 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.219560878 1.109780439 2 1.410745973 1.410745973 1 NA NA 0 NA NA 0 4 NA 1 1 5.01E-28 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 26058292 A G FAM182A ENST00000376398 r.? - - intronic 98 0 0 62 14 22.6 54 6 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.128195609 1.128195609 1 1.23590234 1.23590234 1 NA NA 0 NA NA 0 4 NA 1 1 1.42E-19 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 26064992 G T ENSG00000228451 ENST00000434116 r.? - - intronic 25 0 0 27 6 22.2 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.664227545 0.664227545 1 1.70951163 1.70951163 1 NA NA 0 NA NA 0 4 NA 1 1 4.23E-09 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 26086106 G A - - - - - - 42 0 0 35 10 28.6 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0.763157895 0.763157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-15 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 142367011 T C PLS1 CCDS3125.1 r.? - - intronic 39 0 0 62 14 22.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.207605558 1.207605558 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 1.42E-19 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147326146 G A - - - - - - 43 0 0 57 13 22.8 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 1.444190287 1.444190287 1 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 26211351 G C - - - - - - 43 0 0 44 17 38.6 36 14 38.9 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.528697091 0.988153371 2.559012765 4.579280702 1.526426901 3 0 NA 0 NA NA 1 4 NA 1 1 4.61E-28 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 26212102 G A MAGEB6 CCDS14217.1 r.288g>a c.139G>A p.A47T missense 30 0 0 60 8 13.3 39 3 7.7 290 0 0 215 22 10.2 162 25 15.4 4.21E-22 TRUE TRUE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 1.274944262 1.274944262 1 0.854413395 0.854413395 1 0.977776803 0.977776803 1 1.70882679 0.854413395 2 4 3 1 1 7.93E-10 5.70E-22 0.000998458 2.44E-29 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 14 26216437 T C - - - - - - 53 0 0 38 19 50 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.245614035 1.122807018 2 NA NA 1 NA NA 1 4 NA 1 1 6.16E-34 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 26263372 T A MYO18B ENST00000335473 r.? - - intronic 38 0 0 28 13 46.4 28 10 35.7 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.452211183 0.905851666 2.707078074 4.202578947 1.050644737 4 NA NA 0 NA NA 1 4 NA 1 1 4.26E-23 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 26308642 C T - - - - - - 48 0 0 26 9 34.6 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035237525 1.035237525 1 0.505175439 0.505175439 1 NA NA 1 NA NA 1 4 NA 1 1 5.65E-15 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 26313150 A C - - - - - - 60 0 0 40 7 17.5 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.938430578 0.938430578 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 1.26E-09 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 26320214 C T - - - - - - 59 0 0 60 33 55 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 5.272325896 0.975278624 5.405968884 1.908559791 1.908559791 1 NA NA 0 NA NA 0 4 NA 1 1 8.98E-60 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 153382533 G T - - - - - - 43 0 0 56 19 33.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.807374792 1.088434511 1.660526907 2.66045614 0.886818713 3 NA NA 0 NA NA 1 4 NA 1 1 6.79E-30 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 26335254 C A - - - - - - 53 0 0 64 5 7.8 62 1 1.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.510980241 0.510980241 1 0.188350877 0.188350877 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000186 1 0.267123145 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 26384826 G T SSPN CCDS8707.1 r.1649g>u c.? p.? 3'UTR variant 42 0 0 59 11 18.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.92851497 0.92851497 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.10E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 26441403 T A - - - - - - 47 0 0 36 14 38.9 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.552894212 0.776447106 2 0.622807018 0.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 2.09E-23 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 26466112 A T - - - - - - 53 0 0 44 8 18.2 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.908546906 0.908546906 1 0.429557111 0.429557111 1 NA NA 1 NA NA 0 4 NA 1 1 5.90E-11 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 26476507 G C - - - - - - 45 0 0 45 17 37.8 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.886982036 0.943491018 2 2.578052632 0.859350877 3 NA NA 0 NA NA 1 4 NA 1 1 7.37E-28 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 26531642 T G ATP8A2 CCDS41873.1 r.? - - intronic 65 0 0 38 11 28.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.153692615 1.153692615 1 1.5 1.5 1 NA NA 1 NA NA 1 4 NA 1 1 5.19E-17 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 26538679 T C ITPR2 CCDS41764.1 r.? - - intronic 49 0 0 38 14 36.8 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.837061876 0.918530938 2 1.954385965 1.954385965 1 NA NA 1 NA NA 1 4 NA 1 1 5.28E-23 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 153433842 C T - - - - - - 44 0 0 37 13 35.1 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.87135266 0.93567633 2 1.35377193 1.35377193 1 NA NA 0 NA NA 1 4 NA 1 1 3.89E-21 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 26558252 G C - - - - - - 49 0 0 40 4 10 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.399201597 0.399201597 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 26577054 C A - - - - - - 54 0 0 55 7 12.7 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.681032477 0.681032477 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.28E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 26637542 T C ANO3 CCDS31447.1 r.? - - intronic 48 0 0 36 18 50 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.496007984 1.248003992 2 2.276859649 1.138429825 2 NA NA 1 NA NA 1 4 NA 1 1 3.18E-32 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 26694365 G T - - - - - - 49 0 0 32 9 28.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.121756487 1.121756487 1 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 4.94E-14 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 26697861 G T - - - - - - 77 0 0 97 9 9.3 60 0 0 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.584587222 0.584587222 1 0 0 1 0 NA 0 NA NA 0 3 NA 1 1 1.88E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 26742613 T A OTOF CCDS1725.1 r.? - - intronic 33 0 0 53 10 18.9 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.132491018 1.132491018 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.57E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 26747102 C T - - - - - - 50 0 0 32 6 18.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750499002 0.750499002 1 0.5 0.5 1 NA NA 1 NA NA 1 4 NA 1 1 1.27E-08 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 26758463 C G ITPR2 CCDS41764.1 r.? - - intronic 46 0 0 33 11 33.3 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 2.442982456 1.221491228 2 NA NA 1 NA NA 1 4 NA 1 1 8.54E-18 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 26798649 T A - - - - - - 58 0 0 37 15 40.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.021766467 1.010883234 2 2.071649123 1.035824561 2 NA NA 1 NA NA 1 4 NA 1 1 2.58E-25 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 26818557 T C GABRB3 CCDS10019.1 r.? - - intronic 51 0 0 41 18 43.9 38 11 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 2.19149501 1.095747505 2 2.955762023 1.203672192 2.455620428 NA NA 0 NA NA 0 4 NA 1 1 6.91E-31 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 26819854 C G - - - - - - 69 0 0 39 7 17.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 26840234 G C GABRB3 CCDS10019.1 r.? - - intronic 45 0 0 43 4 9.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.464257485 0.464257485 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 26852725 A C - - - - - - 56 0 0 39 5 12.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 26855154 A G SKAP2 CCDS5400.1 r.? - - intronic 60 0 0 104 18 17.3 56 7 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.108938474 1.054469237 2 1.882726325 1.882726325 1 NA NA 1 NA NA 0 4 NA 1 1 1.68E-22 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 26869619 G T - - - - - - 40 0 0 41 12 29.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.755660679 0.877830339 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.69E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 26893464 C T ENSG00000214801 ENST00000383335 r.? - - intronic 44 0 0 54 18 33.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.093199406 1.046599703 2 2.586539799 1.029080551 2.513447365 NA NA 0 NA NA 0 4 NA 1 1 3.12E-28 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 26898189 G A - - - - - - 61 0 0 47 11 23.4 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.519067364 1.519067364 1 1.351414905 1.351414905 1 NA NA 0 NA NA 0 4 NA 1 1 7.21E-16 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 26941386 C G - - - - - - 49 0 0 28 16 57.1 35 15 42.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 3.763157895 1.881578947 2 NA NA 1 NA NA 1 4 NA 1 1 4.39E-30 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 26942674 C T KIAA0100 CCDS32595.1 r.6624+8g>a c.6525+8G>A p.? splice region 44 0 0 29 15 51.7 23 4 17.4 239 0 0 140 51 36.4 87 15 17.2 1.34E-14 TRUE TRUE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.063872255 1.031936128 2 1.804924994 1.804924994 1 1.453093812 0.726546906 2 1.78417873 0.892089365 2 4 3 1 1 2.22E-27 1.51E-79 0.00000513 5.73E-19 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 26944625 G T KCNK3 CCDS1727.1 r.? - - intronic 22 0 0 46 13 28.3 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 0.937157895 0.937157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.07E-19 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 162022941 G T - - - - - - 43 0 0 44 12 27.3 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.455496514 1.455496514 1 0.506192982 0.506192982 1 NA NA 0 NA NA 1 4 NA 1 1 4.44E-18 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 162664221 C T - - - - - - 56 0 0 35 6 17.1 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.911684629 0.911684629 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.24E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 26994286 G A - - - - - - 51 0 0 64 45 70.3 44 7 15.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.430558574 4.32434803 3 2 2 2 0.569441426 0.67565197 4 3 2 2 0.430558574 0.32434803 5.218069903 1.521055476 3.430558574 1.764308179 1.764308179 1 NA NA 1 NA NA 0 4 NA 1 1 2.26E-88 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 27024520 C T SKAP2 ENST00000432747 r.? - - intronic 45 0 0 92 14 15.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.852940162 1.028485471 1.801620163 1.822479083 1.822479083 1 NA NA 0 NA NA 0 4 NA 1 1 5.34E-17 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 164292833 G A - - - - - - 41 1 2.4 36 11 30.6 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.631435653 1.631435653 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 0.18577148 1 2.62E-17 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 27055388 C T - - - - - - 56 0 0 30 13 43.3 33 15 45.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.728542914 0.864271457 2 3.99122807 1.995614035 2 NA NA 1 NA NA 1 4 NA 1 1 1.35E-22 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 27075390 G A - - - - - - 36 0 0 55 10 18.2 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.144030907 1.144030907 1 0.318720544 0.318720544 1 NA NA 0 NA NA 1 4 NA 1 1 2.33E-13 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27081073 G A JAM2 CCDS42911.1 r.? - - intronic 48 0 0 54 6 11.1 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.727164189 0.727164189 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 27085786 G A - - - - - - 57 0 0 37 16 43.2 35 10 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.724550898 0.862275449 2 2.50877193 1.254385965 2 NA NA 1 NA NA 1 4 NA 1 1 1.78E-27 1 1.60E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 27121904 G T GABRA5 CCDS45194.1 r.? - - intronic 31 0 0 43 11 25.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 1.277956088 1.277956088 1 1.575042739 1.575042739 1 NA NA 0 NA NA 1 4 NA 1 1 2.42E-16 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 27130267 G C - - - - - - 42 0 0 18 7 38.9 16 1 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.163894212 1.163894212 1 0.582361105 0.582361105 1 NA NA 0 NA NA 0 4 NA 1 1 2.37E-12 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 27142163 C G WASF3 CCDS9318.1 r.? - - intronic 38 0 0 34 16 47.1 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880239521 0.94011976 2 2.192982456 2.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.09E-28 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27142815 T C GABPA CCDS13575.1 r.3164u>c c.? p.? 3'UTR variant 50 0 0 58 30 51.7 46 13 28.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 3.386881855 1.323511122 2.559012765 3.33145614 1.11048538 3 NA NA 0 NA NA 1 4 NA 1 1 2.36E-53 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 27143874 G A TM7SF3 CCDS8710.1 r.? - - intronic 29 0 0 43 10 23.3 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.163139721 1.163139721 1 1.397385965 1.397385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.61E-14 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 27170746 G A - - - - - - 52 0 0 44 16 36.4 46 9 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.362993678 0.94530149 2.499724906 2.430067168 1.02377762 2.373627945 NA NA 0 NA NA 1 4 NA 1 1 5.57E-26 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 27220506 G T - - - - - - 22 0 0 39 17 43.6 13 4 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.740518962 0.870259481 2 2.701754386 1.350877193 2 NA NA 1 NA NA 1 4 NA 1 1 3.51E-29 1 0.000000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 176574133 C A - - - - - - 49 0 0 44 12 27.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.362820359 1.362820359 1 1.907052632 1.907052632 1 NA NA 0 NA NA 1 4 NA 1 1 4.44E-18 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 27251294 C T POM121L2 ENST00000429945 r.? - - downstream 28 0 0 42 16 38.1 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.394921843 1.044053844 2.293868134 1.630378167 1.630378167 1 NA NA 0 NA NA 0 4 NA 1 1 2.25E-26 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 27278884 C A NEK10 CCDS46781.1 r.? - - intronic 50 0 0 51 5 9.8 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.525521124 0.525521124 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 27287503 G A NEK10 CCDS46781.1 r.? - - intronic 53 0 0 41 10 24.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.308440349 1.308440349 1 2.519192982 0.839730994 3 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27290677 C G APP CCDS33523.1 r.? - - intronic 22 0 0 60 21 35 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.292860057 0.89599399 2.559012765 3.272596491 1.090865497 3 NA NA 0 NA NA 1 4 NA 1 1 3.16E-33 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 27307208 C T - - - - - - 55 0 0 29 11 37.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.763777012 0.881888506 2 1.778491228 1.778491228 1 NA NA 0 NA NA 1 4 NA 1 1 1.56E-18 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 27320685 T A - - - - - - 35 0 0 49 11 22.4 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.408038039 1.408038039 1 0.416788404 0.416788404 1 NA NA 0 NA NA 1 4 NA 1 1 1.19E-15 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 27327405 G A - - - - - - 47 0 0 72 6 8.3 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.011802852 1.011802852 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000184 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 27355483 G T IL4R CCDS10629.1 r.? - - intronic 26 0 0 33 7 21.2 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.376249065 1.376249065 1 1.425804716 1.425804716 1 NA NA 0 NA NA 1 4 NA 1 1 2.98E-10 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 27408198 C T - - - - - - 68 0 0 25 10 40 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 1.596806387 1 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 1 1 2.98E-17 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 27420337 T A - - - - - - 56 0 0 106 5 4.7 37 0 0 123 0 0 268 18 6.7 164 1 0.6 0.807614687 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.572948603 0.572948603 1 0 NA 0 0.816756519 0.816756519 1 0.090370864 NA 0 NA NA 1 1 0.000208264 5.17E-15 1 0.56047332 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 16 27433609 G A IL21R CCDS10630.1 r.? - - intronic 59 0 0 46 15 32.6 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.116307525 1.058153762 2 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 1.35E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 27448819 C T LGR4 CCDS31449.1 r.? - - intronic 47 0 0 47 10 21.3 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.063299401 1.063299401 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.27E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 27454693 C T - - - - - - 47 0 0 21 5 23.8 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.9500998 0.9500998 1 0.605263158 0.605263158 1 NA NA 1 NA NA 1 4 NA 1 1 5.95E-08 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 180841592 G T - - - - - - 52 0 0 54 8 14.8 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.738818363 0.738818363 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.31E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 27499386 G A GABRG3 CCDS45195.1 r.? - - intronic 20 0 0 39 5 12.8 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.638978044 0.638978044 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 27509613 T C SLC4A7 ENST00000454389 r.? - - intronic 44 0 0 36 12 33.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.785699329 1.095819877 1.62955552 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 2.73E-19 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 27528635 G T ACBD5 CCDS44368.1 r.? - - intronic 45 0 0 41 5 12.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.487025948 0.487025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 27530121 C T - - - - - - 27 0 0 26 7 26.9 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.342852295 1.342852295 1 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 4.73E-11 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 155926131 G T - - - - - - 38 0 0 52 7 13.5 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 8.58E-09 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 184650205 G A VPS8 CCDS46971.1 r.? - - intronic 45 0 0 54 17 31.5 43 12 27.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.57248503 0.786242515 2 3.284368421 1.094789474 3 NA NA 0 NA NA 1 4 NA 1 1 3.02E-26 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 187139565 A G AC068299.1 ENST00000459452 r.? - - upstream 48 0 0 47 8 17 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.848642715 0.848642715 1 1.895280702 1.895280702 1 NA NA 0 NA NA 1 4 NA 1 1 1.03E-10 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 27638682 C T - - - - - - 36 0 0 21 4 19 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.758483034 0.758483034 1 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000349 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 190627105 C A - - - - - - 62 0 0 49 14 28.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.427716567 1.427716567 1 2.66045614 0.886818713 3 NA NA 0 NA NA 1 4 NA 1 1 3.50E-21 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 27733142 C T - - - - - - 34 0 0 99 7 7.1 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.865518102 0.865518102 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000778 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27733646 G A - - - - - - 70 0 0 49 18 36.7 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.404227545 0.939513698 2.559012765 2.048315789 1.024157895 2 NA NA 0 NA NA 1 4 NA 1 1 3.80E-29 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 27741306 T A - - - - - - 36 0 0 81 12 14.8 32 0 0 0 0 NA 0 0 NA 2 0 0 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.804178579 1.001420064 1.801620163 0 NA 0 NA NA 1 0 NA 0 NA NA 1 1 1.26E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 27755387 C T EOMES CCDS2646.1 r.? - - downstream 31 0 0 41 6 14.6 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.782919225 0.782919225 1 0.388473684 0.388473684 1 NA NA 0 NA NA 1 4 NA 1 1 6.05E-08 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 27757151 C T - - - - - - 47 0 0 58 9 15.5 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.430558574 4.32434803 3 2 2 2 0.569441426 0.67565197 4 3 2 2 0.430558574 0.32434803 1.150499054 1.150499054 1 1.464708677 1.464708677 1 NA NA 1 NA NA 0 4 NA 1 1 1.67E-11 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 27759070 T A - - - - - - 32 0 0 100 8 8 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.975231664 0.975231664 1 0.451854318 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.83E-08 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 27765733 A T - - - - - - 24 0 0 43 6 14 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5.430558574 4.32434803 3 2 2 2 0.569441426 0.67565197 4 3 2 2 0.430558574 0.32434803 1.039160436 1.039160436 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 27766970 A C KIAA0556 CCDS32415.1 r.? - - intronic 23 0 0 48 13 27.1 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.759261777 0.879630888 2 1.549787735 1.549787735 1 NA NA 0 NA NA 0 4 NA 1 1 2.00E-19 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 27772374 A T - - - - - - 43 0 0 18 6 33.3 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.996341317 0.996341317 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.75E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 27816897 A C - - - - - - 56 0 0 36 6 16.7 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.777178789 0.777178789 1 1.504877193 1.504877193 1 NA NA 0 NA NA 1 4 NA 1 1 2.68E-08 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 27859277 C A MRPS35 CCDS8714.1 r.? - - upstream 37 0 0 51 10 19.6 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 0.840385965 0.840385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-13 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 27890038 A G - - - - - - 37 0 0 41 9 22 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878243513 0.878243513 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-13 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 27901846 C A GSG1L CCDS45450.1 r.? - - intronic 29 0 0 51 7 13.7 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.8893685 0.8893685 1 1.636575848 1.636575848 1 NA NA 0 NA NA 0 4 NA 1 1 7.46E-09 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27911200 C G CYYR1 CCDS13578.1 r.? - - intronic 51 0 0 56 8 14.3 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.936797109 0.936797109 1 0.588596491 0.588596491 1 NA NA 0 NA NA 1 4 NA 1 1 4.48E-10 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27914984 A C CYYR1 CCDS13578.1 r.? - - intronic 54 0 0 42 10 23.8 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.559144838 1.559144838 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.24E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 27972311 C T - - - - - - 45 0 0 31 9 29 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.899798333 0.949899166 2 2.436789474 0.812263158 3 NA NA 0 NA NA 1 4 NA 1 1 3.57E-14 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 28007823 C T OCA2 CCDS10020.1 r.? - - intronic 51 0 0 46 16 34.8 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 1.737221557 0.868610778 2 2.270516156 0.924620161 2.455620428 NA NA 1 NA NA 0 4 NA 1 1 1.31E-25 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 28084332 A G - - - - - - 40 0 0 33 7 21.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.846307385 0.846307385 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 4 NA 1 1 2.98E-10 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 28106793 G T - - - - - - 41 0 0 57 9 15.8 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.104738523 1.104738523 1 0.565910171 0.565910171 1 NA NA 0 NA NA 0 4 NA 1 1 1.42E-11 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 28134703 C T STX12 CCDS310.1 r.? - - intronic 39 0 0 36 8 22.2 45 8 17.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 2.095403509 1.047701754 2 NA NA 0 NA NA 1 4 NA 1 1 1.04E-11 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 28180214 G A LINGO2 CCDS6524.1 r.? - - intronic 44 0 0 29 9 31 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.92752495 0.92752495 1 0.800508772 0.800508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-14 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28183096 T C - - - - - - 56 0 0 40 7 17.5 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.873602794 0.873602794 1 1.153087719 1.153087719 1 NA NA 1 NA NA 1 4 NA 1 1 1.26E-09 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28183866 G A - - - - - - 38 0 0 36 12 33.3 25 3 12 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 1.172631579 1.172631579 1 NA NA 1 NA NA 1 4 NA 1 1 2.73E-19 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 28185096 C T MN1 CCDS42998.1 r.? - - intronic 43 0 0 37 21 56.8 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 3.001844724 1.000614908 3 2.766403509 0.922134503 3 NA NA 0 NA NA 1 4 NA 1 1 5.69E-39 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 196236816 C G C3orf43 CCDS43192.1 r.? - - intronic 49 0 0 49 9 18.4 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.35E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 2259138 C A MXD4 CCDS3361.1 r.? - - intronic 16 0 0 35 15 42.9 16 3 18.8 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.996465272 0.998232636 2 1.837122807 1.837122807 1 NA NA 0 NA NA 1 4 NA 1 1 9.02E-26 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 28201790 A G - - - - - - 61 0 0 41 7 17.1 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.79579385 0.79579385 1 0.557 0.557 1 NA NA 0 NA NA 1 4 NA 1 1 1.51E-09 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 28220781 A C SSH2 CCDS11253.1 r.? - - intronic 56 0 0 30 10 33.3 42 14 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.329341317 1.329341317 1 3.454253006 1.151417669 3 NA NA 0 NA NA 1 4 NA 1 1 2.68E-16 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 28228980 A C NKAPL CCDS34353.1 r.? - - downstream 58 0 0 67 9 13.4 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.84230847 0.84230847 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 6.43E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 3240908 A G HTT CCDS43206.1 r.? - - intronic 11 0 0 38 6 15.8 10 1 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.735294902 0.735294902 1 0.977192982 0.977192982 1 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.04888987 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28323809 G A ADAMTS5 CCDS13579.1 r.? - - intronic 46 0 0 44 8 18.2 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.192287229 1.192287229 1 2.719315789 0.906438596 3 NA NA 0 NA NA 1 4 NA 1 1 5.90E-11 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 8482730 C A C4orf23 CCDS3402.1 r.? - - downstream 46 0 0 40 19 47.5 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.210538472 1.105269236 2 3.254052632 1.627026316 2 NA NA 0 NA NA 1 4 NA 1 1 2.27E-33 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28331078 C G ADAMTS5 CCDS13579.1 r.? - - intronic 62 0 0 66 32 48.5 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 3.177248936 1.241591671 2.559012765 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.38E-55 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 28338404 A G ZKSCAN3 CCDS4650.1 r.? - - downstream 56 0 0 60 25 41.7 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.621213671 1.142704601 2.293868134 1.569085755 1.569085755 1 NA NA 0 NA NA 0 4 NA 1 1 1.31E-41 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 10498286 G T CLNK CCDS47024.1 r.? - - intronic 51 0 0 36 14 38.9 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.810314664 0.905157332 2 3.254052632 1.627026316 2 NA NA 0 NA NA 1 4 NA 1 1 2.09E-23 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 28425405 G T - - - - - - 44 0 0 37 7 18.9 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.879561623 0.879561623 1 1.114 1.114 1 NA NA 0 NA NA 1 4 NA 1 1 7.05E-10 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 28426347 G A - - - - - - 38 0 0 35 15 42.9 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 0.856287425 2 3.149122807 1.574561404 2 NA NA 1 NA NA 1 4 NA 1 1 9.02E-26 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 28426839 C T - - - - - - 66 0 0 62 13 21 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.048323353 1.048323353 1 1.543964912 1.543964912 1 NA NA 1 NA NA 1 4 NA 1 1 8.08E-18 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28448657 C T CCDC91 CCDS8716.1 r.? - - intronic 51 0 0 36 5 13.9 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.69389022 0.69389022 1 1.192175439 1.192175439 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000104 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 28450110 G T BRE CCDS1764.1 r.? - - intronic 48 0 0 51 11 21.6 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.294275449 1.294275449 1 1.755824561 1.755824561 1 NA NA 1 NA NA 1 4 NA 1 1 1.94E-15 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28466672 C T CCDC91 CCDS8716.1 r.? - - intronic 52 0 0 50 17 34 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.697285429 0.848642715 2 1.846894737 1.846894737 1 NA NA 1 NA NA 1 4 NA 1 1 6.43E-27 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 28472376 G A - - - - - - 41 0 0 37 10 27 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 5.384331439 2 3 2 2 0.2353839 0.615668561 3 4 2 2 0.7646161 0.384331439 1.824290658 1.033817304 1.7646161 1.641095271 1.641095271 1 NA NA 0 NA NA 1 4 NA 1 1 3.01E-15 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 28483968 C A - - - - - - 22 0 0 30 8 26.7 18 1 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.065868263 1.065868263 1 0.49122807 0.49122807 1 NA NA 1 NA NA 1 4 NA 1 1 2.07E-12 1 0.086275114 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 28493834 G A CREB5 CCDS5417.1 r.? - - intronic 31 0 0 90 56 62.2 55 20 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 7.582426191 0.971904045 7.801620163 5.482499059 0.960137406 5.710119222 NA NA 1 NA NA 0 4 NA 1 1 8.31E-105 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 28497551 G A CLN3 CCDS10632.1 r.? - - intronic 21 0 0 47 14 29.8 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.93453878 0.96726939 2 2.913600942 0.971200314 3 NA NA 0 NA NA 1 4 NA 1 1 1.79E-21 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 28518176 G A PTAFR CCDS318.1 r.? - - intronic 40 0 0 41 17 41.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.071686627 1.035843313 2 2.69577193 0.898590643 3 NA NA 0 NA NA 1 4 NA 1 1 1.03E-28 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 28519753 G A ZCWPW2 CCDS33723.1 r.? - - intronic 59 0 0 45 11 24.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.308440349 1.308440349 1 1.553894737 1.553894737 1 NA NA 0 NA NA 1 4 NA 1 1 4.24E-16 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 28550545 C T SLC6A4 CCDS11256.1 r.? - - intronic 55 0 0 40 24 60 32 10 31.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.395209581 1.19760479 2 3.236417231 1.078805744 3 NA NA 0 NA NA 0 4 NA 1 1 3.47E-45 1 5.70E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 13128601 T C - - - - - - 55 0 0 35 5 14.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.665488424 0.665488424 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28651963 C A - - - - - - 47 1 2.1 40 12 30 42 16 38.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.96530862 0.98265431 2 4.485105263 1.495035088 3 NA NA 0 NA NA 1 4 NA 0.209895027 1 1.20E-18 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 14690878 G C - - - - - - 51 0 0 49 7 14.3 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.665488424 0.665488424 1 1.671 1.671 1 NA NA 0 NA NA 1 4 NA 1 1 5.58E-09 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28654643 C A - - - - - - 50 0 0 66 21 31.8 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.083227137 1.041613569 2 1.271368421 1.271368421 1 NA NA 0 NA NA 1 4 NA 1 1 3.42E-32 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 28673064 C T - - - - - - 39 0 0 35 7 20 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.930753041 0.930753041 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.65E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 15672615 C T FBXL5 ENST00000507899 r.? - - intronic 34 0 0 25 4 16 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.744602433 0.744602433 1 0.654719298 0.654719298 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000727 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 28737640 C T - - - - - - 52 0 0 17 5 29.4 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.879652695 0.879652695 1 0.932631579 0.932631579 1 NA NA 1 NA NA 1 4 NA 1 1 1.84E-08 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 19741193 A G - - - - - - 44 0 0 46 7 15.2 29 4 13.8 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.707372311 0.707372311 1 1.348526316 1.348526316 1 0 NA 0 NA NA 1 4 NA 1 1 3.53E-09 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 19784842 C A - - - - - - 49 0 0 31 4 12.9 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.600335711 0.600335711 1 0.928333333 0.928333333 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000177 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 21204985 A G KCNIP4 CCDS43217.1 r.? - - intronic 45 0 0 39 18 46.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.150039524 1.075019762 2 1.485333333 1.485333333 1 NA NA 0 NA NA 1 4 NA 1 1 2.15E-31 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28811341 A C - - - - - - 69 0 0 66 25 37.9 49 9 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.48283989 0.970233492 2.559012765 2.166035088 1.083017544 2 NA NA 0 NA NA 1 4 NA 1 1 2.57E-40 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 28812322 G C IL1RAPL1 CCDS14218.1 r.? - - intronic 47 0 0 59 31 52.5 38 13 34.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 3.670808383 0.917702096 4 3.794927026 1.632684511 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 2.25E-55 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 28819010 T C - - - - - - 61 0 0 44 19 43.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.156550898 1.078275449 2 2.013017544 1.006508772 2 NA NA 1 NA NA 1 4 NA 1 1 2.39E-32 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 28825135 A T - - - - - - 22 0 0 38 5 13.2 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 5.384331439 2 3 2 2 0.2353839 0.615668561 3 4 2 2 0.7646161 0.384331439 0.891875433 0.891875433 1 0.692906892 0.692906892 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000137 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 21474333 G A KCNIP4 CCDS43217.1 r.? - - intronic 50 0 0 32 6 18.8 25 0 0 128 0 0 425 88 20.7 392 4 1 0.551667648 TRUE TRUE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.874907858 0.874907858 1 0 0 1 0.963329397 0.963329397 1 0.097719298 0.097719298 1 3 2 1 1 1.27E-08 4.00E-111 1 0.135270121 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 10 28893900 A G WAC CCDS7159.1 r.? - - intronic 49 0 0 35 18 51.4 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.051896208 1.025948104 2 1 1 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-32 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28895283 T C - - - - - - 39 0 0 37 7 18.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.238144431 1.238144431 1 2.071859649 2.071859649 1 NA NA 0 NA NA 1 4 NA 1 1 7.05E-10 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 28931758 T C IL1RAPL1 CCDS14218.1 r.? - - intronic 56 1 1.8 59 39 66.1 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.621722555 1.155430639 4 2.152677904 0.926142676 2.32434803 NA NA 0 NA NA 0 4 NA 0.244746891 1 4.61E-75 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 28973430 G A - - - - - - 39 0 0 41 5 12.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.609025948 0.609025948 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28983368 T G - - - - - - 55 0 0 67 10 14.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.976103281 0.976103281 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.87E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29006864 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 48 0 0 56 34 60.7 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.244153693 1.061038423 4 3.073668966 1.322378975 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.12E-63 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 29058397 G C - - - - - - 53 0 0 48 19 39.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.976838323 0.988419162 2 1.573280702 1.573280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.92E-31 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29096243 G T IL1RAPL1 CCDS14218.1 r.? - - intronic 30 0 0 48 8 16.7 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.167666667 1.167666667 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.23E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 29137469 G A - - - - - - 50 0 0 28 12 42.9 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.28357485 1.28357485 1 1.352315789 1.352315789 1 NA NA 1 NA NA 1 4 NA 1 1 6.90E-21 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29145103 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 50 0 0 69 7 10.1 51 0 0 100 0 0 609 31 5.1 527 0 0 1 FALSE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.706193613 0.706193613 1 0 NA 0 0.356592814 0.356592814 1 0 NA 0 NA NA 1 1 6.43E-08 3.33E-21 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 4 21815002 C T KCNIP4 CCDS43216.1 r.? - - intronic 52 0 0 36 20 55.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.587493453 1.293746727 2 3.371315789 1.685657895 2 NA NA 0 NA NA 1 4 NA 1 1 6.46E-37 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 29195973 T G - - - - - - 44 0 0 35 7 20 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.684035088 0.684035088 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 29247231 G A - - - - - - 49 0 0 30 10 33.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 0.315789474 0.315789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-16 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 29254237 A T EPB41 CCDS331.1 r.? - - intronic 67 0 0 38 8 21.1 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.053315369 1.053315369 1 1.730473684 1.730473684 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 29257712 G A OR12D3 ENST00000396806 r.? - - intronic 47 0 0 57 13 22.8 49 5 10.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.433181575 1.433181575 1 1.250365211 1.250365211 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 29260443 C G FAM179A CCDS1769.2 r.? - - intronic 33 0 0 34 11 32.4 12 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.941413174 0.970706587 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.26E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 29266709 G T C14orf23 ENST00000399387 r.? - - downstream 62 0 0 33 6 18.2 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.726546906 0.726546906 1 0.51754386 0.51754386 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 29267372 G C ADAP2 CCDS11261.1 r.? - - intronic 27 0 0 30 17 56.7 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.263473054 1.131736527 2 2.531044245 1.055130357 2.398797674 NA NA 0 NA NA 1 4 NA 1 1 8.59E-32 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 22973082 G A - - - - - - 52 0 0 36 8 22.2 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.033135875 1.033135875 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.04E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 29303145 C T - - - - - - 28 0 0 50 22 44 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.636487026 0.878829009 3 1.723508772 1.723508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.85E-37 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 29310717 T C - - - - - - 27 0 0 42 6 14.3 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.936797109 0.936797109 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29311585 G A CHN2 CCDS5420.1 r.? - - intronic 30 0 0 96 20 20.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.535602327 0.905048572 2.801620163 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.43E-26 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29322411 C T CHN2 CCDS5420.1 r.? - - intronic 35 0 0 110 17 15.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.88951135 1.048784526 1.801620163 3.208165658 1.069388553 3 NA NA 1 NA NA 0 4 NA 1 1 1.90E-20 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 156418336 G C - - - - - - 37 0 0 51 16 31.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.881493014 0.940746507 2 2.089754386 1.044877193 2 NA NA 1 NA NA 1 4 NA 1 1 9.28E-25 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 29393035 T C CLIP4 CCDS1770.1 r.? - - intronic 54 0 0 54 15 27.8 28 6 21.4 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.665780439 0.83289022 2 2.305192982 1.152596491 2 NA NA 1 NA NA 1 4 NA 1 1 2.20E-22 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 24410816 G T - - - - - - 62 0 0 32 12 37.5 52 9 17.3 86 1 1.2 146 40 27.4 189 36 19 1.53E-34 TRUE TRUE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.745161951 0.872580976 2 1.69054386 1.69054386 1 1.275131666 1.275131666 1 1.856666667 0.928333333 2 4 3 1 0.350192164 5.03E-20 6.80E-57 5.92E-12 4.71E-45 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 18 29499369 T A KIAA1012 CCDS11901.1 r.? - - intronic 39 0 0 32 24 75 28 12 42.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.994011976 1.497005988 2 3.763157895 1.881578947 2 NA NA 1 NA NA 1 4 NA 1 1 6.03E-49 1 6.90E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 162704587 G T SLC4A10 CCDS46438.1 r.? - - intronic 48 0 0 50 11 22 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.318243513 1.318243513 1 0.280070175 0.280070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.52E-15 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29579977 A G - - - - - - 59 0 0 123 15 12.2 56 11 19.6 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.487228288 1.487228288 1 2.952114878 0.984038293 3 0 0 1 NA NA 0 4 NA 1 1 1.29E-16 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 29580913 C T - - - - - - 44 0 0 53 10 18.9 44 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.238144431 1.238144431 1 0.270754386 0.270754386 1 NA NA 0 NA NA 1 4 NA 1 1 1.57E-13 1 0.197923942 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 29597559 C A ENSG00000205534 ENST00000447140 r.? - - intronic 25 0 0 34 4 11.8 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.766025423 0.766025423 1 3.310346602 1.103448867 3 NA NA 0 NA NA 1 4 NA 1 1 0.0000257 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 29600404 C G - - - - - - 60 0 0 51 19 37.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.862021956 0.931010978 2 2.521157895 1.260578947 2 NA NA 1 NA NA 1 4 NA 1 1 7.94E-31 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 29628267 C T RBMS3 CCDS33725.1 r.? - - intronic 62 0 0 43 9 20.9 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.120754234 1.120754234 1 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 9.45E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 29638999 C A - - - - - - 42 0 0 33 8 24.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.966067864 0.966067864 1 1.903508772 1.903508772 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-12 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 28651979 T A - - - - - - 41 0 0 25 4 16 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.744602433 0.744602433 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 29678410 G T - - - - - - 31 0 0 37 25 67.6 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.698602794 1.349301397 2 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 1 1 5.21E-49 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 32303043 A G - - - - - - 48 0 0 30 6 20 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.930753041 0.930753041 1 1.045596491 1.045596491 1 NA NA 0 NA NA 1 4 NA 1 1 8.37E-09 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 29689166 T C EWSR1 CCDS13851.1 r.? - - intronic 31 0 0 65 14 21.5 48 10 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.136261647 1.136261647 1 2.448561404 0.816187135 3 NA NA 0 NA NA 1 4 NA 1 1 2.93E-19 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 29705675 A T - - - - - - 41 0 0 47 17 36.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.275490045 0.991988167 2.293868134 3.959489835 1.319829945 3 NA NA 0 NA NA 0 4 NA 1 1 1.81E-27 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 29719578 T G FAM189A1 CCDS45198.1 r.? - - intronic 46 0 0 49 10 20.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 1.018371257 1.018371257 1 1.360264184 1.360264184 1 NA NA 1 NA NA 0 4 NA 1 1 6.72E-14 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29770270 T A IL1RAPL1 CCDS14218.1 r.? - - intronic 28 0 0 55 4 7.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.510417166 0.510417166 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000173903 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 29778886 G A - - - - - - 43 0 0 30 11 36.7 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.70793183 0.853965915 2 0.674263158 0.674263158 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 37031255 C T - - - - - - 45 0 0 37 17 45.9 36 10 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.136078228 1.068039114 2 2.716596491 1.358298246 2 NA NA 0 NA NA 1 4 NA 1 1 1.10E-29 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 29854744 G T - - - - - - 43 0 0 38 4 10.5 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.524161677 0.524161677 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 29868774 C A - - - - - - 22 0 0 73 13 17.8 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.940718945 0.940718945 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.97E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 29871731 T G RBMS3 CCDS33725.1 r.? - - intronic 53 0 0 48 20 41.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.236146007 1.118073003 2 2.166035088 1.083017544 2 NA NA 0 NA NA 1 4 NA 1 1 1.40E-33 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29893134 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 57 0 0 60 12 20 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.398403194 1.398403194 1 1.209494286 1.209494286 1 NA NA 0 NA NA 0 4 NA 1 1 2.74E-16 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 29898223 G C ENSG00000228768 ENST00000412403 r.63g>c c.59G>C p.C20S missense 23 0 0 25 15 60 23 3 13 264 0 0 24 8 33.3 36 12 33.3 1.00E-15 TRUE TRUE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.395209581 1.19760479 2 1.34850718 1.34850718 1 1.329341317 1.329341317 1 3.454253006 1.151417669 3 4 3 1 1 9.52E-29 2.68E-13 0.000205387 2.73E-19 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 29924030 C T - - - - - - 38 0 0 49 15 30.6 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.004614792 1.002307396 2 1.918824561 1.918824561 1 NA NA 0 NA NA 1 4 NA 1 1 4.10E-23 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 29930600 C A - - - - - - 42 0 0 41 8 19.5 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.973443114 0.973443114 1 2.045510051 2.045510051 1 NA NA 1 NA NA 0 4 NA 1 1 3.22E-11 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 29994924 T C - - - - - - 49 0 0 49 8 16.3 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813698603 0.813698603 1 0.57654386 0.57654386 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-10 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 42220957 G A - - - - - - 38 0 0 41 13 31.7 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.582469062 0.791234531 2 0.693807018 0.693807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.89E-20 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 30055621 G A - - - - - - 72 0 0 39 5 12.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.686394937 0.686394937 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 30057848 C A FKBP14 CCDS5423.1 r.? - - intronic 43 0 0 86 37 43 52 9 17.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 5.241870196 1.048374039 5 2.605693234 0.96146812 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.66E-61 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 42901953 G T GRXCR1 CCDS43225.1 r.? - - intronic 59 0 0 40 8 20 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 30070321 C T REM1 CCDS13181.1 r.? - - intronic 21 0 0 43 11 25.6 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.277956088 1.277956088 1 0.345161915 0.345161915 1 NA NA 0 NA NA 0 4 NA 1 1 2.42E-16 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 30095674 T G - - - - - - 44 0 0 57 37 64.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.537818363 1.134454591 4 1.897463513 1.897463513 1 NA NA 0 NA NA 0 4 NA 1 1 7.99E-71 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 30137517 C T TRIM15 CCDS4677.1 r.? - - intronic 51 0 0 56 5 8.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.559443685 0.559443685 1 1.618119685 1.618119685 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000965 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 30233275 T C - - - - - - 51 0 0 36 10 27.8 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.878343715 0.939171857 2 1.647578947 1.647578947 1 NA NA 0 NA NA 1 4 NA 1 1 2.21E-15 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 30252179 C A KLHL14 CCDS32813.1 r.? - - downstream 46 0 0 42 5 11.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.4750499 0.4750499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 30301988 A C ENSG00000237496 ENST00000424014 r.? - - intronic 55 0 0 45 6 13.3 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.618950772 0.618950772 1 1.045596491 1.045596491 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000108 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 44232228 G T KCTD8 CCDS3467.1 r.? - - intronic 49 0 0 54 8 14.8 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.738818363 0.738818363 1 0.664491228 0.664491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.31E-10 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 55139936 C G PDGFRA CCDS3495.1 r.? - - intronic 28 0 0 55 12 21.8 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.088259481 1.088259481 1 0.674263158 0.674263158 1 NA NA 1 NA NA 1 4 NA 1 1 8.78E-17 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 30321879 G A - - - - - - 57 0 0 35 7 20 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.998403194 0.998403194 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.65E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 30361491 A C - - - - - - 46 0 0 62 6 9.7 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.678225549 0.678225549 1 2.774069464 1.193482829 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 0.000000756 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 164096653 T A - - - - - - 65 0 0 53 4 7.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.449401198 0.449401198 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 30377993 T G LRRC37B CCDS32609.1 r.? - - intronic 28 0 0 29 12 41.4 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.652694611 0.826347305 2 1.192910197 1.192910197 1 NA NA 0 NA NA 0 4 NA 1 1 1.17E-20 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 55957448 A G KDR CCDS3497.1 r.? - - intronic 54 0 0 45 8 17.8 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.888578842 0.888578842 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.14E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 30443569 C A ENSG00000224737 ENST00000413205 r.? - - upstream 30 0 0 44 21 47.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.904191617 0.952095808 2 1.950148844 1.950148844 1 NA NA 0 NA NA 1 4 NA 1 1 8.60E-37 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 30443740 G T ENSG00000224737 ENST00000413205 r.? - - upstream 29 0 0 54 17 31.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.25748503 1.25748503 1 2.51029798 1.046481747 2.398797674 NA NA 0 NA NA 1 4 NA 1 1 3.02E-26 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30461810 C A - - - - - - 46 0 0 50 9 18 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.898562874 0.898562874 1 0.329614035 0.329614035 1 NA NA 0 NA NA 1 4 NA 1 1 4.07E-12 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30488412 G A - - - - - - 38 0 0 29 6 20.7 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.033347305 1.033347305 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 6.72E-09 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30490445 A T - - - - - - 50 0 0 35 6 17.1 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.853634731 0.853634731 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 2.24E-08 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 59678160 C A - - - - - - 51 0 0 42 5 11.9 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.5940499 0.5940499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 30496492 C T RHOT1 CCDS32610.1 r.? - - intronic 42 0 0 52 19 36.5 43 12 27.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.457085828 0.728542914 2 2.89410387 0.96470129 3 NA NA 0 NA NA 1 4 NA 1 1 1.24E-30 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 30508869 T A HORMAD2 CCDS46683.1 r.? - - intronic 57 0 0 50 21 42 31 14 45.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.219673915 1.109836958 2 5.320912281 1.33022807 4 NA NA 0 NA NA 1 4 NA 1 1 2.79E-35 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 30528921 A G - - - - - - 38 0 0 19 7 36.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.101061876 1.101061876 1 1.822226682 1.822226682 1 NA NA 0 NA NA 0 4 NA 1 1 3.73E-12 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 30548186 T C - - - - - - 41 0 0 38 7 18.4 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 0.527684211 0.527684211 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 61632651 C A - - - - - - 68 0 0 40 8 20 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 30588087 C A PPP1R10 CCDS4681.1 r.? - - upstream 32 0 0 64 21 32.8 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.061769986 1.030884993 2 1.667153615 1.667153615 1 NA NA 0 NA NA 1 4 NA 1 1 1.60E-32 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30588658 A C - - - - - - 37 0 0 48 11 22.9 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 9.31E-16 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 30589728 T C AC006978.1 ENST00000507825 r.? - - intronic 46 0 0 71 7 9.9 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.206849185 1.206849185 1 1.641737356 1.641737356 1 NA NA 0 NA NA 0 4 NA 1 1 7.85E-08 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 30590896 G T RHBDL3 CCDS32613.1 r.? - - upstream 13 0 0 40 9 22.5 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.898203593 0.898203593 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.64E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30597860 G T - - - - - - 21 0 0 28 9 32.1 12 4 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.602437126 1.602437126 1 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 1.24E-14 1 0.0000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 30600451 A G - - - - - - 58 0 0 29 13 44.8 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.788423154 0.894211577 2 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 7.69E-23 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 30653097 C A - - - - - - 45 0 0 50 22 44 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.196487026 1.098243513 2 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.85E-37 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 30694662 C T LCLAT1 CCDS1772.1 r.? - - intronic 42 0 0 38 5 13.2 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0.872526316 0.872526316 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000137 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 30709855 G T TM9SF4 CCDS13196.2 r.? - - intronic 17 0 0 56 11 19.6 9 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.97843513 0.97843513 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 5.91E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 30721596 C A MAP3K8 CCDS7166.1 r.? - - upstream 17 0 0 36 19 52.8 23 6 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.107784431 1.053892216 2 2.289473684 1.144736842 2 NA NA 1 NA NA 1 4 NA 1 1 1.51E-34 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 30734219 G A GK CCDS48090.1 r.? - - intronic 59 0 0 66 6 9.1 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.636273453 0.636273453 1 1.03195384 1.03195384 1 NA NA 0 NA NA 0 4 NA 1 1 0.0000011 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 30770576 G A - - - - - - 56 0 0 24 7 29.2 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.873668663 0.873668663 1 1.111385965 1.111385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-11 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 30806562 C A - - - - - - 33 0 0 57 21 36.8 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.31320535 1.008429959 2.293868134 2.451696492 0.975431802 2.513447365 NA NA 0 NA NA 1 4 NA 1 1 8.56E-34 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 30827762 A T BACH1 ENST00000422809 r.? - - intronic 56 0 0 53 15 28.3 49 5 10.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.853941131 0.926970566 2 1.200736842 1.200736842 1 NA NA 0 NA NA 1 4 NA 1 1 1.60E-22 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 30830997 A G - - - - - - 57 0 0 30 16 53.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.127744511 1.063872255 2 1.035087719 1.035087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-29 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 30834495 C T ENSG00000183355 ENST00000331219 r.? - - upstream 25 0 0 50 5 10 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.649174087 0.649174087 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 30835627 C A ENSG00000183355 ENST00000331219 r.? - - upstream 21 0 0 46 8 17.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.129562912 1.129562912 1 2.405270565 1.01333091 2.373627945 NA NA 0 NA NA 1 4 NA 1 1 8.61E-11 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 30854838 T C TAB3 CCDS14226.1 r.? - - intronic 18 0 0 54 35 64.8 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.530826347 1.132706587 4 2.407892294 1.035943096 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 4.87E-67 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 65665320 G T - - - - - - 36 0 0 36 17 47.2 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.356231537 1.178115768 2 2.530929825 1.265464912 2 NA NA 1 NA NA 1 4 NA 1 1 6.00E-30 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 30886495 T C - - - - - - 46 0 0 30 9 30 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.19760479 1.19760479 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.54E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 67720455 G T - - - - - - 52 0 0 35 11 31.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.567493014 1.567493014 1 1.573280702 1.573280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-17 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 30916938 G A PCDH7 CCDS43220.1 r.? - - intronic 28 0 0 31 9 29 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.349591909 1.349591909 1 1.299666667 1.299666667 1 NA NA 0 NA NA 1 4 NA 1 1 3.57E-14 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 30939268 T A DCDC5 ENST00000406071 r.? - - intronic 40 0 0 38 7 18.4 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 1.954385965 0.977192982 2 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 31002064 G T - - - - - - 34 0 0 47 6 12.8 22 0 0 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.686394937 0.686394937 1 0 0 1 NA NA 0 0 0 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31030211 G T ZNF536 CCDS32984.1 r.? - - intronic 36 0 0 38 19 50 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 3.378316034 1.221983781 2.7646161 0.945122807 0.945122807 1 NA NA 0 NA NA 1 4 NA 1 1 6.16E-34 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31103887 A G ADCYAP1R1 CCDS5433.1 r.? - - intronic 39 0 0 96 29 30.2 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 3.681499533 0.96840278 3.801620163 2.515322371 2.515322371 1 NA NA 1 NA NA 0 4 NA 1 1 4.14E-43 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 31141012 G A SCFD1 CCDS9639.1 r.? - - intronic 54 0 0 25 14 56 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.235528942 1.117764471 2 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.58E-26 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 69364458 G T TMPRSS11E CCDS33993.1 r.? - - downstream 47 0 0 29 12 41.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.066694611 1.033347305 2 1.762556591 1.762556591 1 NA NA 1 NA NA 0 4 NA 1 1 1.17E-20 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 31163272 G T GALNT14 CCDS1773.2 r.? - - intronic 57 0 0 47 12 25.5 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 2.596035088 0.865345029 3 NA NA 1 NA NA 1 4 NA 1 1 1.09E-17 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 31173525 C G DMD CCDS14233.1 r.? - - intronic 41 0 0 87 8 9.2 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.643265469 0.643265469 1 0.543717615 0.543717615 1 NA NA 1 NA NA 0 4 NA 1 1 1.61E-08 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 31181935 C T - - - - - - 36 0 0 55 17 30.9 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.942338188 0.971169094 2 2.758158554 0.919386185 3 NA NA 0 NA NA 1 4 NA 1 1 4.35E-26 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 31185383 T G DMD CCDS14233.1 r.? - - intronic 44 0 0 55 35 63.6 35 10 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.446922156 1.482307385 3 3.173535466 1.365344357 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.33E-66 1 1.60E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 31216383 C A PYCARD CCDS10708.1 r.? - - upstream 24 0 0 57 6 10.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.681632792 0.681632792 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000456 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 31216384 T A PYCARD CCDS10708.1 r.? - - upstream 26 0 0 58 6 10.3 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.66864931 0.66864931 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000506 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31279387 G A - - - - - - 29 0 0 39 12 30.8 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.081042677 1.040521338 2 2.324491228 2.324491228 1 NA NA 0 NA NA 1 4 NA 1 1 8.43E-19 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 31289574 G A DMD CCDS14233.1 r.? - - intronic 51 0 0 75 9 12 26 7 26.9 0 0 NA 0 0 NA 2 2 100 1.00E-04 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.839041916 0.839041916 1 2.984898743 1.284187525 2.32434803 NA NA 1 11.09627785 4.773931318 2.32434803 4 NA 1 1 1.82E-10 1 4.73E-11 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 31328049 C T - - - - - - 39 0 0 22 7 31.8 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.269461078 1.269461078 1 1.403508772 1.403508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.25E-11 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 31343243 G A TRPM1 CCDS10024.2 r.? - - intronic 35 0 0 43 6 14 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.698882236 0.698882236 1 0.38864691 0.38864691 1 NA NA 1 NA NA 1 4 NA 1 1 8.13E-08 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 31359855 G A DCDC1 CCDS7872.1 r.? - - intronic 50 0 0 44 16 36.4 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.817093812 0.908546906 2 1.465789474 1.465789474 1 NA NA 1 NA NA 1 4 NA 1 1 5.57E-26 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 31366946 G T - - - - - - 35 0 0 38 9 23.7 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.102942353 1.102942353 1 2.120508772 2.120508772 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 31373869 C T - - - - - - 27 0 0 47 11 23.4 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.168131737 1.168131737 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 7.21E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 31378752 T A - - - - - - 48 0 0 28 13 46.4 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.452211183 0.905851666 2.707078074 3.814105263 0.953526316 4 NA NA 0 NA NA 1 4 NA 1 1 4.26E-23 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31385374 G C NEUROD6 CCDS5434.1 r.? - - upstream 36 0 0 85 21 24.7 57 8 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 3.011027764 1.003675921 3 2.108653484 1.054326742 2 NA NA 1 NA NA 0 4 NA 1 1 1.53E-29 1 5.19E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 70041173 G A UGT2B11 CCDS3527.1 r.? - - intronic 45 0 0 36 11 30.6 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.527556886 1.527556886 1 0.608717998 0.608717998 1 NA NA 1 NA NA 0 4 NA 1 1 2.62E-17 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31438346 C T - - - - - - 43 0 0 46 12 26.1 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.76348097 0.999356727 1.7646161 2.19677193 2.19677193 1 NA NA 0 NA NA 1 4 NA 1 1 8.12E-18 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 31445331 G A - - - - - - 44 0 0 56 10 17.9 41 9 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.172634143 1.172634143 1 2.589824561 0.863274854 3 NA NA 0 NA NA 1 4 NA 1 1 2.82E-13 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 31445772 C A PUM1 CCDS44099.1 r.? - - intronic 30 0 0 37 17 45.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.291335329 1.145667665 2 2.66045614 0.886818713 3 NA NA 0 NA NA 1 4 NA 1 1 1.10E-29 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 31463506 C G - - - - - - 45 0 0 20 9 45 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.346407186 1.346407186 1 1.44650984 1.44650984 1 NA NA 0 NA NA 1 4 NA 1 1 3.12E-16 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31473722 T A - - - - - - 64 0 0 46 12 26.1 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.76348097 0.999356727 1.7646161 1.123929825 1.123929825 1 NA NA 0 NA NA 1 4 NA 1 1 8.12E-18 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 72458582 C T - - - - - - 53 0 0 37 19 51.4 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.565896208 1.282948104 2 0.608717998 0.608717998 1 NA NA 1 NA NA 0 4 NA 1 1 3.09E-34 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31501223 A G - - - - - - 43 0 0 100 23 23 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.803791035 1.000774863 2.801620163 2.921991257 0.973997086 3 NA NA 1 NA NA 0 4 NA 1 1 2.05E-31 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31539787 T A - - - - - - 40 0 0 46 15 32.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.202662054 1.101331027 2 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.35E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31541066 T A - - - - - - 37 0 0 77 17 22.1 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.694077473 0.961614107 2.801620163 0.933832257 0.933832257 1 NA NA 1 NA NA 0 4 NA 1 1 2.82E-23 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31542299 C T - - - - - - 44 0 0 55 17 30.9 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.087799309 1.043899654 2 1.890245614 1.890245614 1 NA NA 0 NA NA 1 4 NA 1 1 4.35E-26 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 72695847 A G - - - - - - 64 0 0 44 9 20.5 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.023363273 1.023363273 1 2.016946202 1.535652186 1.313413428 NA NA 1 NA NA 0 4 NA 1 1 1.18E-12 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 31598937 A G ELP4 CCDS7875.2 r.? - - intronic 51 0 0 43 8 18.6 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.92851497 0.92851497 1 0.850157895 0.850157895 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 31602326 C T - - - - - - 33 0 0 34 9 26.5 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.322884232 1.322884232 1 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 9.15E-14 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 31613667 G T DMD CCDS14233.1 r.? - - intronic 47 0 0 69 40 58 51 19 37.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.055369261 1.351789754 3 4.13891164 1.780676382 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.87E-73 1 7.94E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 31633197 T G DMD CCDS14233.1 r.? - - intronic 49 0 0 57 8 14 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.978882236 0.978882236 1 0.787835728 0.787835728 1 NA NA 1 NA NA 0 4 NA 1 1 5.19E-10 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31647843 C G CCDC129 CCDS5435.2 r.? - - intronic 58 0 0 91 16 17.6 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.145509662 1.072754831 2 1.340501144 1.340501144 1 NA NA 0 NA NA 0 4 NA 1 1 2.79E-20 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 31657415 C G - - - - - - 53 0 0 54 21 38.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.5252872 1.010226043 2.499724906 2.120109621 1.060054811 2 NA NA 0 NA NA 1 4 NA 1 1 2.12E-34 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 31705623 C T OSBPL10 CCDS2651.1 r.2321g>a c.2198G>A p.R733Q missense 25 0 0 34 15 44.1 26 4 15.4 214 0 0 91 37 40.7 69 14 20.3 9.24E-15 TRUE TRUE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.364845058 1.182422529 2 1.812877193 1.812877193 1 2.182521402 1.091260701 2 2.389701754 1.194850877 2 4 3 1 1 5.18E-26 2.38E-60 0.00000856 7.30E-19 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 31718421 G A OSBPL10 CCDS2651.1 r.? - - intronic 35 0 0 40 12 30 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.608738134 1.608738134 1 1.412631579 1.412631579 1 NA NA 0 NA NA 1 4 NA 1 1 1.20E-18 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31719448 A C - - - - - - 49 0 0 41 7 17.1 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.155384084 1.155384084 1 1.315508772 1.315508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.51E-09 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 31746215 A G OSBPL10 CCDS2651.1 r.? - - intronic 34 0 0 38 11 28.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.549751069 1.549751069 1 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 171462902 C T MYO3B CCDS42773.1 r.? - - intronic 42 0 0 42 9 21.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.282291417 1.282291417 1 2.025122807 2.025122807 1 NA NA 1 NA NA 1 4 NA 1 1 7.51E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31748040 T C - - - - - - 17 0 0 31 7 22.6 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.526998847 1.526998847 1 2.19677193 2.19677193 1 NA NA 0 NA NA 1 4 NA 1 1 1.85E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 31758954 T C DMD CCDS14233.1 r.? - - intronic 49 0 0 63 6 9.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.664241517 0.664241517 1 1.986233736 1.986233736 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000832 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 31797125 C T PDZD2 CCDS34137.1 r.? - - intronic 18 0 0 22 17 77.3 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 3.085828343 1.542914172 2 1.807017544 1.807017544 1 NA NA 1 NA NA 1 4 NA 1 1 1.96E-35 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 31823260 T C NEU1 CCDS4723.1 r.? - - downstream 52 0 0 50 18 36 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.262918277 0.986507569 2.293868134 0.404529921 0.404529921 1 NA NA 0 NA NA 0 4 NA 1 1 5.92E-29 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 79537159 G A - - - - - - 55 0 0 39 13 33.3 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.662341317 0.831170659 2 1.771641934 1.771641934 1 NA NA 1 NA NA 0 4 NA 1 1 8.79E-21 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 31853322 A G HEATR5A CCDS45094.1 r.? - - intronic 47 0 0 33 22 66.7 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.662674651 1.331337325 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.38E-43 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 31862346 C T OSBPL10 CCDS2651.1 r.? - - intronic 36 0 0 63 16 25.4 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.362064954 1.362064954 1 1.389087719 1.389087719 1 NA NA 0 NA NA 1 4 NA 1 1 4.48E-23 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81405174 C A C4orf22 CCDS3587.1 r.? - - intronic 31 0 0 45 18 40 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.996806387 0.998403194 2 1.380972174 1.380972174 1 NA NA 1 NA NA 0 4 NA 1 1 5.76E-30 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 31896201 C T SERINC2 CCDS30662.1 r.? - - intronic 41 0 0 55 10 18.2 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0.565052632 0.565052632 1 NA NA 0 NA NA 1 4 NA 1 1 2.33E-13 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 84581744 A T - - - - - - 49 0 0 30 12 40 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.996806387 0.998403194 2 2.098714291 1.597908356 1.313413428 NA NA 1 NA NA 0 4 NA 1 1 1.94E-20 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 32033316 C T - - - - - - 46 0 0 40 15 37.5 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.745161951 0.872580976 2 2.833859649 1.416929825 2 NA NA 0 NA NA 1 4 NA 1 1 1.09E-24 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 95415174 A G PDLIM5 CCDS3641.1 r.? - - intronic 43 0 0 47 9 19.1 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.95347505 0.95347505 1 0.263474954 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.24E-12 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 32102347 C A FKBPL CCDS4738.1 r.? - - upstream 50 0 0 45 16 35.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.23777474 0.975546374 2.293868134 2.525247387 1.004694756 2.513447365 NA NA 0 NA NA 1 4 NA 1 1 8.61E-26 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32134353 C G DMD CCDS14233.1 r.? - - intronic 44 0 0 58 11 19 36 0 0 0 0 NA 0 0 NA 2 0 0 1 FALSE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.328483034 1.328483034 1 0 NA 0 NA NA 1 0 NA 0 NA NA 1 1 8.96E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 96941037 T G - - - - - - 54 0 0 51 12 23.5 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.173123752 1.173123752 1 0.799510206 0.799510206 1 NA NA 1 NA NA 0 4 NA 1 1 3.24E-17 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 102395550 G T BANK1 ENST00000504592 r.? - - intronic 49 0 0 36 9 25 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.248003992 1.248003992 1 1.253777369 1.253777369 1 NA NA 1 NA NA 0 4 NA 1 1 1.63E-13 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 32141367 T A - - - - - - 35 0 0 38 4 10.5 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.524161677 0.524161677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 32163812 G A GPD1L CCDS33729.1 r.? - - intronic 39 0 0 39 7 17.9 23 7 30.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.95988042 0.95988042 1 3.578666667 1.192888889 3 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 32185581 C G KRTAP8-1 CCDS13607.1 r.? - - upstream 40 0 0 63 5 7.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.51753127 0.51753127 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000173 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 32263487 T A - - - - - - 55 0 0 54 14 25.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.749967706 0.991698821 1.7646161 2.477754386 0.825918129 3 NA NA 0 NA NA 1 4 NA 1 1 1.64E-20 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32279160 A T DMD CCDS14233.1 r.? - - intronic 58 0 0 74 11 14.9 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.190810379 1.190810379 1 1.631152845 1.631152845 1 NA NA 0 NA NA 0 4 NA 1 1 1.53E-13 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 105649431 C A - - - - - - 51 0 0 46 7 15.2 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.758786427 0.758786427 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 32314068 C G PDE1C ENST00000396193 r.? - - intronic 53 0 0 99 8 8.1 54 2 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.98742206 0.98742206 1 0.557286992 0.557286992 1 NA NA 1 NA NA 0 4 NA 1 1 4.46E-08 1 0.030129377 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 116838886 C A - - - - - - 52 0 0 39 7 17.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.893570858 0.893570858 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 32377486 C T - - - - - - 60 0 0 32 16 50 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.631578947 1.315789474 2 NA NA 1 NA NA 1 4 NA 1 1 8.51E-29 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 32383598 A T - - - - - - 97 0 0 57 13 22.8 65 10 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.480116919 1.480116919 1 1.90933849 0.954669245 2 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 1.36E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 32419618 T C - - - - - - 64 0 0 47 21 44.7 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.784431138 0.892215569 2 0.464912281 0.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 5.29E-36 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 32424056 G A BICD1 CCDS8726.1 r.? - - intronic 38 0 0 41 7 17.1 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.853634731 0.853634731 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.51E-09 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 122659069 C G - - - - - - 33 0 0 26 9 34.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.727237525 1.727237525 1 1.619876777 1.619876777 1 NA NA 1 NA NA 0 4 NA 1 1 5.65E-15 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 32430037 G A BICD1 CCDS8726.1 r.? - - intronic 41 0 0 39 25 64.1 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 3.199882236 1.599941118 2 1.084684211 1.084684211 1 NA NA 1 NA NA 1 4 NA 1 1 4.20E-48 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 32461778 C A TIAM1 ENST00000461148 r.? - - intronic 47 0 0 58 23 39.7 43 13 30.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.600758407 1.016313182 2.559012765 3.555122807 1.185040936 3 NA NA 0 NA NA 1 4 NA 1 1 8.87E-38 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 32479373 C T - - - - - - 53 0 0 29 16 55.2 32 12 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.203592814 1.101796407 2 3.289473684 1.644736842 2 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 32493982 G A NLRC4 CCDS33174.1 r.? - - upstream 36 0 0 64 9 14.1 53 1 1.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.126874251 1.126874251 1 0.242666667 0.242666667 1 NA NA 1 NA NA 1 4 NA 1 1 4.20E-11 1 0.233303855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 32510617 C A TIAM1 CCDS13609.1 r.? - - intronic 53 0 0 72 8 11.1 29 0 0 153 0 0 278 19 6.8 271 2 0.7 0.754696206 TRUE TRUE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.727164189 0.727164189 1 0 0 1 0.445469954 0.796886908 0.559012765 0.082403509 0.082403509 1 3 2 1 1 3.52E-09 6.67E-16 1 0.392844877 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 21 32546907 C T TIAM1 CCDS13609.1 r.? - - intronic 31 0 0 49 18 36.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.404227545 0.939513698 2.559012765 2.766403509 0.922134503 3 NA NA 0 NA NA 1 4 NA 1 1 3.80E-29 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 32578930 A G - - - - - - 41 0 0 34 5 14.7 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.684103485 0.684103485 1 0.478824561 0.478824561 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000771 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 32657421 G A FGD4 CCDS8727.1 r.? - - intronic 52 0 0 34 8 23.5 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173123752 1.173123752 1 1.182403509 1.182403509 1 NA NA 1 NA NA 1 4 NA 1 1 6.32E-12 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 132087919 A T - - - - - - 48 0 0 47 6 12.8 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.638978044 0.638978044 1 0.850661548 0.850661548 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000141 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 32710218 G C BIRC6 CCDS33175.2 r.? - - intronic 62 0 0 72 39 54.2 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.331672655 1.082918164 4 4.993824561 1.24845614 4 NA NA 1 NA NA 1 4 NA 1 1 5.35E-70 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 177298710 T A - - - - - - 41 0 0 52 7 13.5 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.58E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 32728811 C T - - - - - - 49 1 2 36 15 41.7 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.94062009 0.970310045 2 0.977192982 0.977192982 1 NA NA 0 NA NA 1 4 NA 0.217776325 1 1.54E-25 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 32759253 C T CCDC73 CCDS41630.1 r.? - - intronic 45 0 0 31 10 32.3 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.612421158 1.612421158 1 2.736140351 1.368070175 2 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 32765941 G A TIAM1 CCDS13609.1 r.? - - intronic 39 0 0 59 6 10.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.668204931 0.668204931 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000561 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 132410387 C A - - - - - - 42 0 0 52 12 23.1 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.153155689 1.153155689 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.19E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 32811442 G A - - - - - - 19 0 0 29 12 41.4 19 8 42.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.652694611 0.826347305 2 4.367088635 1.455696212 3 NA NA 0 NA NA 1 4 NA 1 1 1.17E-20 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 32863289 C T BSDC1 CCDS44103.1 r.? - - upstream 47 0 0 38 9 23.7 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.183107784 1.183107784 1 0.635684211 0.635684211 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 32874468 C T AL669918.1 ENST00000499196 r.? - - downstream 53 0 0 48 10 20.8 42 7 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.408938959 7 3 4 2 3 0.591061041 1 3 NA 3 NA 0.408938959 NA 1.539398625 1.539398625 1 2.299912281 1.14995614 2 NA NA 0 NA NA 1 4 NA 1 1 5.37E-14 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 193927559 G A - - - - - - 55 0 0 49 7 14.3 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 1.195684211 1.195684211 1 NA NA 1 NA NA 1 4 NA 1 1 5.58E-09 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32948772 C T DMD CCDS14233.1 r.? - - intronic 39 0 0 61 23 37.7 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 3.38999002 1.129996673 3 0.632487838 0.632487838 1 NA NA 1 NA NA 0 4 NA 1 1 3.73E-37 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 32954520 A G - - - - - - 66 0 0 34 8 23.5 44 2 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.093634823 1.093634823 1 0.439736842 0.439736842 1 NA NA 0 NA NA 1 4 NA 1 1 6.32E-12 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 32957068 G C SYN3 CCDS13908.1 r.? - - intronic 27 0 0 31 19 61.3 23 6 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 3.239666929 1.079888976 3 3.072473684 1.024157895 3 NA NA 0 NA NA 1 4 NA 1 1 2.54E-36 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 32969165 C A - - - - - - 56 0 0 34 9 26.5 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.233247779 1.233247779 1 0.293157895 0.293157895 1 NA NA 0 NA NA 1 4 NA 1 1 9.15E-14 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 32998048 G T - - - - - - 25 0 0 28 4 14.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.570858283 0.570858283 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 133845806 G T - - - - - - 48 0 0 27 4 14.8 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.738818363 0.738818363 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 134760446 A G - - - - - - 62 0 0 40 15 37.5 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.872005988 0.936002994 2 2.316695279 1.81323143 1.277661109 NA NA 1 NA NA 0 4 NA 1 1 1.09E-24 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 33053009 G A - - - - - - 23 0 0 33 10 30.3 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.047259516 1.023629758 2 3.754947368 1.251649123 3 NA NA 0 NA NA 1 4 NA 1 1 8.14E-16 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 33133174 G T CSTF3 CCDS7883.1 r.? - - intronic 43 0 0 32 8 25 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 2.755684211 1.377842105 2 NA NA 1 NA NA 1 4 NA 1 1 3.69E-12 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 33135743 T C - - - - - - 42 0 0 71 11 15.5 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.238762475 1.238762475 1 0.932350877 0.932350877 1 NA NA 1 NA NA 1 4 NA 1 1 9.49E-14 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 33141148 T G - - - - - - 48 0 0 24 10 41.7 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.247670659 1.247670659 1 1.296223104 1.296223104 1 NA NA 0 NA NA 0 4 NA 1 1 1.80E-17 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 33167850 A T LTBP1 CCDS33177.1 r.? - - upstream 35 0 0 50 4 8 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.639361277 0.639361277 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000119787 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 33176490 C T CSTF3 CCDS7883.1 r.? - - intronic 24 0 0 44 8 18.2 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.90E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195476357 G T - - - - - - 40 0 0 60 23 38.3 48 26 54.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.294942116 1.147471058 2 5.838385965 2.919192982 2 NA NA 1 NA NA 1 4 NA 1 1 2.33E-37 1 3.67E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 140289539 C T NAA15 CCDS43270.1 r.? - - intronic 40 0 0 43 13 30.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.507588822 1.507588822 1 1.592728004 1.592728004 1 NA NA 1 NA NA 0 4 NA 1 1 3.88E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 33285668 G A DMD ENST00000288447 r.? - - intronic 49 0 0 51 9 17.6 39 12 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.58259481 1.58259481 1 3.417653579 1.470370846 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 4.92E-12 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 33286725 C A - - - - - - 35 0 0 34 7 20.6 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.028355289 1.028355289 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 33287699 G A - - - - - - 43 0 0 29 4 13.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.688898204 0.688898204 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 33326116 C A SYN3 CCDS13908.1 r.? - - intronic 45 0 0 29 8 27.6 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.458642859 1.458642859 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 1.53E-12 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 149470489 G A - - - - - - 60 0 0 49 25 51 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.471715239 1.23585762 2 2.090455506 1.636158048 1.277661109 NA NA 0 NA NA 0 4 NA 1 1 1.68E-44 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 33380785 A G HIPK3 CCDS7884.1 r.? - - downstream 38 0 0 34 4 11.8 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.589057884 0.589057884 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 33424260 G C BBS9 CCDS43566.1 r.? - - intronic 44 0 0 79 6 7.6 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0.926470081 0.926470081 1 0.813337773 0.813337773 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000318 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 33432093 C T RNF19B CCDS372.2 r.? - - upstream 28 0 0 35 6 17.1 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.853634731 0.853634731 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 2.24E-08 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 33458755 G A - - - - - - 40 0 0 38 18 47.4 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.366215569 1.183107784 2 2.609105263 1.304552632 2 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 33474319 T C NPAS3 CCDS9645.1 r.? - - intronic 56 0 0 41 23 56.1 49 10 20.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.239520958 1.119760479 2 1.789473684 0.894736842 2 NA NA 1 NA NA 1 4 NA 1 1 2.21E-42 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 33509544 C A - - - - - - 24 0 0 46 13 28.3 17 1 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.837162667 0.918581334 2 0.731499811 0.731499811 1 NA NA 0 NA NA 0 4 NA 1 1 1.07E-19 1 0.081683532 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 33554884 T C NRP1 CCDS7177.1 r.? - - intronic 38 0 0 32 22 68.8 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.746506986 1.373253493 2 1.526315789 1.526315789 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-43 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 150636809 C T - - - - - - 29 0 0 43 6 14 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.678510066 0.678510066 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 152371688 C A FAM160A1 CCDS47146.1 r.? - - intronic 47 0 0 40 7 17.5 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.848137582 0.848137582 1 1.393637004 1.393637004 1 NA NA 0 NA NA 0 4 NA 1 1 1.26E-09 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 163782927 A T - - - - - - 57 0 0 47 26 55.3 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.680114759 1.34005738 2 0.696818502 0.696818502 1 NA NA 0 NA NA 0 4 NA 1 1 1.69E-47 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 33729754 G T - - - - - - 56 0 0 85 5 5.9 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.471528942 0.471528942 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000735 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 33735843 G A ADAMTS12 ENST00000504830 r.? - - intronic 37 0 0 26 15 57.7 19 5 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.303393214 1.151696607 2 2.307017544 1.153508772 2 NA NA 1 NA NA 1 4 NA 1 1 2.24E-28 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 167497343 G T - - - - - - 53 0 0 24 6 25 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.211625117 1.211625117 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.95E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 33876508 C T FAM83C CCDS13251.1 r.? - - intronic 19 0 0 22 6 27.3 10 3 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.362820359 1.362820359 1 3.340276595 1.413978135 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 1.09E-09 1 0.0000146 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 33891733 G A - - - - - - 40 0 0 73 15 20.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.49903114 0.891994987 2.801620163 2.650878666 0.978140978 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 3.38E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 33903821 G T - - - - - - 52 0 0 22 9 40.9 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.632734531 1.632734531 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 9.16E-16 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 33932853 T G - - - - - - 49 0 0 107 31 29 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 3.535214783 0.929923199 3.801620163 1.837540893 1.837540893 1 NA NA 1 NA NA 0 4 NA 1 1 2.55E-45 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 33934556 G A - - - - - - 44 0 0 77 6 7.8 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.623377246 0.623377246 1 0.266310669 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000273 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 33956270 G C - - - - - - 20 0 0 67 23 34.3 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 3.547418107 1.05883252 3.350310876 0.922719298 NA 0 NA NA 0 NA NA 0 NA NA 1 1 5.12E-36 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 167918580 T C SPOCK3 CCDS34095.1 r.? - - intronic 60 0 0 31 6 19.4 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.940221091 0.940221091 1 0.823512775 0.823512775 1 NA NA 0 NA NA 0 4 NA 1 1 1.03E-08 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 34134071 C G - - - - - - 37 0 0 49 19 38.8 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.712902196 0.904300732 3 1.212508772 1.212508772 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-31 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 34155004 G A - - - - - - 43 0 0 35 5 14.3 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.999858283 0.999858283 1 1.106561404 1.106561404 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000895 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34157083 T C - - - - - - 50 0 0 50 8 16 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.317435381 1.317435381 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 34158569 C G BMPER CCDS5442.1 r.? - - intronic 42 0 0 62 6 9.7 40 2 5 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.182468393 1.182468393 1 0.75309053 0.75309053 1 NA NA 1 0 NA 0 4 NA 1 1 0.000000756 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 34164567 C A - - - - - - 52 0 0 43 7 16.3 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813698603 0.813698603 1 0.977192982 0.977192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.15E-09 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 34166774 C T CSMD2 CCDS380.1 r.? - - intronic 36 0 0 39 9 23.1 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.153155689 1.153155689 1 0.376701754 0.376701754 1 NA NA 0 NA NA 1 4 NA 1 1 3.62E-13 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 34196154 G A - - - - - - 22 0 0 29 10 34.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.722245509 0.861122754 2 1.915091915 1.915091915 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-16 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 171310179 C A - - - - - - 33 0 0 36 19 52.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.558952248 1.279476124 2 1.25789314 1.25789314 1 NA NA 0 NA NA 0 4 NA 1 1 1.51E-34 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 174125610 A T GALNT7 CCDS3815.1 r.? - - intronic 46 0 0 40 5 12.5 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.605812559 0.605812559 1 1.095000503 1.095000503 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000178 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 34348157 G A NUDT2 CCDS6552.1 r.? - - downstream 39 0 0 63 20 31.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.422406675 3.327893332 2 3 0 0 0.577593325 0.672106668 3 3 0 1 0.422406675 0.327893332 1.399371978 1.399371978 1 1.555372766 1.555372766 1 NA NA 0 NA NA 0 4 NA 1 1 1.05E-30 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34357348 A G - - - - - - 54 0 0 52 18 34.6 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 2.848954012 1.032961457 2.758044835 0.599199004 0.599199004 1 NA NA 1 NA NA 0 4 NA 1 1 1.39E-28 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 34363112 G T - - - - - - 36 0 0 29 13 44.8 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.084886811 1.042443406 2 2.442982456 1.221491228 2 NA NA 0 NA NA 1 4 NA 1 1 7.69E-23 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34366736 G A - - - - - - 40 0 0 74 10 13.5 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.078922156 1.078922156 1 0.728 0.728 1 NA NA 1 NA NA 1 4 NA 1 1 5.24E-12 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 34390045 G A PGBD4 CCDS10033.1 r.? - - upstream 40 0 0 37 12 32.4 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 1.617413174 0.808706587 2 1.00265252 1.00265252 1 NA NA 1 NA NA 0 4 NA 1 1 4.03E-19 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 34393240 C T - - - - - - 47 0 0 47 21 44.7 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 4 NA 2 NA 2 NA 1 NA NA NA NA NA NA NA NA 1 2.509859649 1.254929825 2 NA NA 1 NA NA 1 NA NA 1 1 5.29E-36 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 34452367 T C PARD3 CCDS7178.1 r.? - - intronic 48 0 0 46 18 39.1 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.459092148 1.07046331 2.297222263 0.60322807 0.60322807 1 NA NA 1 NA NA 0 4 NA 1 1 9.41E-30 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 34455144 G C - - - - - - 48 0 0 34 6 17.6 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.142546394 1.142546394 1 0.756296415 0.756296415 1 NA NA 0 NA NA 1 4 NA 1 1 1.86E-08 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34460584 T G - - - - - - 38 0 0 54 30 55.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.57808795 1.144521988 4 2.374603461 1.021621302 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.16E-54 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 34483022 C T EGLN3 ENST00000487915 r.? - - intronic 47 0 0 36 12 33.3 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.73E-19 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 174392390 T A - - - - - - 55 0 0 41 6 14.6 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.707589069 0.707589069 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 34528521 T C - - - - - - 55 0 0 101 25 24.8 57 10 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 3.02321816 1.007739387 3 2.635816855 0.972583359 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 6.66E-35 1 3.40E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 34535729 C T - - - - - - 37 0 0 44 5 11.4 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.422406675 3.327893332 2 3 0 0 0.577593325 0.672106668 3 3 0 1 0.422406675 0.327893332 0.503244181 0.503244181 1 1.222078602 1.222078602 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000288 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 34567216 G A CSMD2 CCDS380.1 r.? - - intronic 38 0 0 47 5 10.6 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.529153693 0.529153693 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 34583830 G A C6orf106 CCDS4796.1 r.? - - intronic 51 0 0 59 14 23.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 2.451131462 1.042896702 2.350310876 2.878333333 0.959444444 3 NA NA 0 NA NA 0 4 NA 1 1 6.58E-20 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34614339 A T - - - - - - 50 0 0 53 5 9.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.773993287 0.773993287 1 1.631152845 1.631152845 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000734 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 175443410 C A HPGD CCDS3821.1 r.? - - intronic 14 0 0 38 8 21.1 9 1 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.022611599 1.022611599 1 1.004504594 1.004504594 1 NA NA 0 NA NA 0 4 NA 1 1 1.67E-11 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34634221 C G - - - - - - 51 0 0 69 28 40.6 45 16 35.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 3.244758483 1.081586161 3 4.546807018 1.136701754 4 NA NA 1 NA NA 1 4 NA 1 1 5.13E-46 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34634399 A T - - - - - - 66 0 0 51 29 56.9 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.547457086 1.136864271 4 3.703859649 0.925964912 4 NA NA 1 NA NA 1 4 NA 1 1 2.61E-53 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 34635486 A G IFNAR2 CCDS13621.1 r.1555a>g c.1229A>G p.D410G missense 35 0 0 65 25 38.5 38 10 26.3 174 0 0 96 20 20.8 96 19 19.8 2.69E-19 TRUE TRUE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.522146062 0.985593389 2.559012765 3.096017544 1.032005848 3 1.362613976 1.362613976 1 2.330842105 1.165421053 2 4 3 1 1 1.60E-40 1.43E-26 4.06E-15 7.42E-25 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 34637100 G T - - - - - - 44 0 0 51 12 23.5 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.878123752 0.939061876 2 0.894035088 0.894035088 1 NA NA 1 NA NA 1 4 NA 1 1 3.24E-17 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34640288 C T - - - - - - 50 0 0 53 6 11.3 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.903097804 0.903097804 1 0.434245614 0.434245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000293 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 34690065 A T - - - - - - 63 0 0 53 4 7.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.524401198 0.524401198 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 34716951 A T - - - - - - 52 0 0 44 13 29.5 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.472644711 1.472644711 1 1.114 1.114 1 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34747548 G A - - - - - - 45 0 0 66 29 43.9 41 15 36.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 3.614713327 0.961860086 3.758044835 4.061237695 1.747258862 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 6.96E-49 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 179054003 T C - - - - - - 58 0 0 34 5 14.7 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.712435569 0.712435569 1 1.06785173 1.06785173 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000771 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 34829926 A C - - - - - - 51 0 0 35 4 11.4 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.45508982 0.45508982 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 179262082 G T - - - - - - 52 0 0 43 7 16.3 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.789979576 0.789979576 1 0.877810321 0.877810321 1 NA NA 0 NA NA 0 4 NA 1 1 2.15E-09 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 181887882 G T - - - - - - 71 0 0 41 4 9.8 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.474957046 0.474957046 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000546 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 34847098 G T - - - - - - 61 0 0 85 6 7.1 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.567433134 0.567433134 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000487 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 34871112 G A - - - - - - 70 0 0 21 8 38.1 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.139958084 1.139958084 1 1.136543446 1.136543446 1 NA NA 0 NA NA 0 4 NA 1 1 7.50E-14 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 34872578 T G - - - - - - 57 0 0 32 5 15.6 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.824450311 0.824450311 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 34885296 G A - - - - - - 25 0 0 41 8 19.5 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.973443114 0.973443114 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 3.22E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 34915412 G A - - - - - - 61 0 0 35 5 14.3 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.665488424 0.665488424 1 0.54722807 0.54722807 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000895 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 34923912 A G CELF4 CCDS32818.1 r.? - - intronic 19 0 0 24 9 37.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 2.263157895 1.131578947 2 NA NA 1 NA NA 1 4 NA 1 1 2.39E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 34932215 C T ANKS1A CCDS4798.1 r.? - - intronic 39 0 0 69 7 10.1 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 1.044575011 1.044575011 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34934441 G A - - - - - - 41 0 0 60 5 8.3 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.683419604 0.683419604 1 0.654680393 0.654680393 1 NA NA 1 NA NA 0 4 NA 1 1 0.0000136 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 34955150 G A - - - - - - 29 0 0 45 21 46.7 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.17330835 1.086654175 2 1.631912281 1.631912281 1 NA NA 0 NA NA 1 4 NA 1 1 1.60E-36 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 34981313 A C - - - - - - 58 0 0 39 17 43.6 44 10 22.7 114 0 0 333 132 39.6 383 66 17.2 6.44E-59 TRUE TRUE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.029041629 1.014520814 2 2.21822807 1.109114035 2 1.842891021 0.92144551 2 1.68077193 0.840385965 2 4 3 1 1 3.51E-29 3.94E-209 2.08E-14 4.20E-78 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 34988760 G A - - - - - - 56 0 0 66 24 36.4 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.909093812 0.969697937 3 3.384561404 1.128187135 3 NA NA 1 NA NA 1 4 NA 1 1 3.04E-38 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 34996627 C T DPY19L1 CCDS43567.1 r.? - - intronic 27 0 0 109 13 11.9 51 11 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.450657101 1.450657101 1 3.25335109 1.084450363 3 NA NA 1 NA NA 0 4 NA 1 1 1.83E-14 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 35001382 G T - - - - - - 50 0 0 60 15 25 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 2.058492783 1.029246392 2 2.396796017 1.031169165 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.31E-21 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 35010314 G A CELF4 CCDS32818.1 r.? - - intronic 32 0 0 32 5 15.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 35053279 A G - - - - - - 50 0 0 72 7 9.7 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.7986952 0.7986952 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.66E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 35070381 G A AC087457.1 ENST00000503496 r.? - - intronic 15 0 0 46 13 28.3 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 1.412740519 1.412740519 1 1.218175959 1.218175959 1 NA NA 1 NA NA 0 4 NA 1 1 1.07E-19 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 185828829 C A - - - - - - 36 0 0 34 5 14.7 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.712435569 0.712435569 1 0.588223411 0.588223411 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000771 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 35096093 G A - - - - - - 55 0 0 32 13 40.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.026758483 1.013379242 2 1.895280702 1.895280702 1 NA NA 0 NA NA 1 4 NA 1 1 3.88E-22 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 35115665 G T - - - - - - 43 0 0 38 16 42.1 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.959235151 0.979617575 2 0.850157895 0.850157895 1 NA NA 0 NA NA 1 4 NA 1 1 3.06E-27 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 35120712 G T - - - - - - 59 0 0 86 19 22.1 49 9 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.694077473 0.961614107 2.801620163 2.771373151 1.022601931 2.710119222 NA NA 0 NA NA 0 4 NA 1 1 7.57E-26 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 35121290 G C - - - - - - 45 0 0 83 19 22.9 45 5 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.791600639 0.996423668 2.801620163 1.671860977 1.671860977 1 NA NA 1 NA NA 0 4 NA 1 1 3.60E-26 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 210430417 C T MAP2 CCDS33369.1 r.? - - intronic 38 0 0 48 16 33.3 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.96E-25 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 187801350 T C - - - - - - 30 0 0 52 18 34.6 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.073237525 1.036618762 2 2.171901824 1.699904465 1.277661109 NA NA 1 NA NA 0 4 NA 1 1 1.39E-28 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 35157223 A G ITSN1 CCDS33545.1 r.? - - intronic 56 0 0 46 17 37 46 14 30.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.423880631 0.947193646 2.559012765 3.578666667 1.192888889 3 NA NA 0 NA NA 1 4 NA 1 1 1.16E-27 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 35165100 T G - - - - - - 51 0 0 122 60 49.2 63 19 30.2 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 5.088424807 1.017684961 5 4.159122807 1.039780702 4 0 0 1 NA NA 0 4 NA 1 1 2.41E-103 1 9.48E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 35192666 G T - - - - - - 62 0 0 38 4 10.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.554918479 0.554918479 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 35255155 C T - - - - - - 47 0 0 39 10 25.6 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.021956088 1.021956088 1 1.403508772 1.403508772 1 NA NA 1 NA NA 1 4 NA 1 1 5.44E-15 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 35261520 G C ITSN1 CCDS33545.1 r.6370g>c c.? p.? 3'UTR variant 32 0 0 51 6 11.8 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.77302139 0.77302139 1 0.929982456 0.929982456 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000232 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 35303608 A T - - - - - - 35 0 0 41 24 58.5 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.335329341 1.167664671 2 1.947368421 1.947368421 1 NA NA 1 NA NA 1 4 NA 1 1 8.33E-45 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 35311364 A T - - - - - - 15 0 0 44 9 20.5 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.023363273 1.023363273 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.18E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 35320768 T C PPARD CCDS4803.1 r.? - - intronic 60 0 0 130 40 30.8 55 14 25.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 3.185436668 0.950788385 3.350310876 3.511842105 0.877960526 4 NA NA 1 NA NA 0 4 NA 1 1 3.12E-59 1 2.19E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 35326672 A T PPARD CCDS4803.1 r.? - - intronic 33 0 0 121 45 37.2 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 3.847345586 0.961836396 4 5.012982456 1.253245614 4 NA NA 1 NA NA 0 4 NA 1 1 7.03E-71 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 35339485 C T CUL2 CCDS7179.1 r.? - - intronic 44 0 0 41 7 17.1 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.075459738 1.075459738 1 0.538596491 0.538596491 1 NA NA 1 NA NA 0 4 NA 1 1 1.51E-09 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 189159421 A C - - - - - - 50 0 0 39 13 33.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.995341317 0.997670659 2 1.619876777 1.619876777 1 NA NA 1 NA NA 0 4 NA 1 1 8.79E-21 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 3491699 G T - - - - - - 40 0 0 26 14 53.8 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.147704591 1.073852295 2 1.526315789 1.526315789 1 NA NA 1 NA NA 1 4 NA 1 1 5.57E-26 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 35397764 G T - - - - - - 61 0 0 30 4 13.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.530938124 0.530938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 35413888 T A ENSG00000235977 ENST00000424925 r.1259u>a c.? p.? 5'UTR variant 43 0 0 65 8 12.3 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 1.137114553 1.137114553 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 1.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 16088647 G T Mar-11 CCDS47192.1 r.? - - intronic 50 0 0 32 5 15.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 35434770 T C - - - - - - 50 0 0 68 19 27.9 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.827737017 0.913868508 2 1.436175439 1.436175439 1 NA NA 0 NA NA 1 4 NA 1 1 5.06E-28 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 35477610 C T - - - - - - 62 0 0 67 21 31.3 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.501500998 0.833833666 3 3.486736842 0.871684211 4 NA NA 1 NA NA 1 4 NA 1 1 4.96E-32 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 35531818 G A HPN CCDS32993.1 r.? - - intronic 15 0 0 26 15 57.7 8 1 12.5 173 0 0 36 7 19.4 39 2 5.1 0.058074659 TRUE TRUE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 3.898576703 1.410169283 2.7646161 1.596491228 1.596491228 1 1.310786621 1.310786621 1 0.651368421 0.651368421 1 4 3 1 1 2.24E-28 5.74E-10 0.039306956 0.016387522 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 35544232 C G - - - - - - 47 0 0 56 10 17.9 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.430570858 1.430570858 1 3.831578947 0.957894737 4 NA NA 1 NA NA 1 4 NA 1 1 2.82E-13 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 35555882 C T - - - - - - 57 0 0 54 16 29.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.939104505 0.969552252 2 1.836421053 1.836421053 1 NA NA 0 NA NA 1 4 NA 1 1 2.69E-24 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 35561645 G A - - - - - - 53 0 0 41 7 17.1 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.195634731 1.195634731 1 0.317842105 0.317842105 1 NA NA 1 NA NA 1 4 NA 1 1 1.51E-09 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 35572936 T A - - - - - - 40 0 0 32 14 43.8 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 2.186502994 1.093251497 2 0.852723171 0.852723171 1 NA NA 1 NA NA 0 4 NA 1 1 2.65E-24 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 35602046 G T ENSG00000203404 ENST00000366226 r.199g>u c.? p.? 5'UTR variant 22 0 0 23 7 30.4 16 3 18.8 6 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.054016149 1.027008074 2 2.401122807 2.401122807 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-11 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 35627927 G A - - - - - - 43 0 0 54 6 11.1 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.568890989 0.568890989 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 35628060 C G - - - - - - 45 0 0 28 14 50 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.131578947 1.065789474 2 NA NA 1 NA NA 1 4 NA 1 1 2.29E-25 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 35630044 G A - - - - - - 30 0 0 54 23 42.6 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 3.507671703 0.933376758 3.758044835 0.654680393 0.654680393 1 NA NA 0 NA NA 0 4 NA 1 1 1.12E-38 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 35633217 A G KIAA0391 CCDS32063.1 r.? - - intronic 50 0 0 34 7 20.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.822355289 0.822355289 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 35643787 A T - - - - - - 65 0 0 32 14 43.8 22 7 31.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.748502994 0.874251497 2 2.789473684 1.394736842 2 NA NA 1 NA NA 1 4 NA 1 1 2.65E-24 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 35655492 C A FKBP5 CCDS4808.1 r.? - - intronic 34 0 0 92 42 45.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 4.726443368 0.945288674 5 2.602894737 0.867631579 3 NA NA 1 NA NA 0 4 NA 1 1 5.18E-71 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 35696253 C T TLN1 CCDS35009.1 r.? - - downstream 41 0 0 58 11 19 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.973777369 0.973777369 1 0.800491228 0.800491228 1 NA NA 0 NA NA 1 4 NA 1 1 8.96E-15 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 35704832 C T C6orf81 CCDS4809.1 r.? - - upstream 13 0 0 107 8 7.5 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 0.775674513 0.775674513 1 1.143070175 1.143070175 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000082 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 35713754 G T HERPUD2 CCDS5446.1 r.? - - intronic 40 0 0 69 6 8.7 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 0.804300537 0.804300537 1 0.49703975 0.49703975 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000143 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 35727715 T C NBEA CCDS45026.1 r.? - - intronic 44 0 0 29 16 55.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.203592814 1.101796407 2 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 35727947 C T CCNY CCDS7189.1 r.? - - intronic 56 0 0 60 6 10 54 0 0 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.628923823 0.628923823 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 0.000000621 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 18254470 C A - - - - - - 56 0 0 40 5 12.5 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 35829722 C T CD22 CCDS12457.1 r.? - - intronic 17 0 0 38 9 23.7 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.6013218 1.6013218 1 1.826385965 1.826385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 35840594 G T - - - - - - 53 0 0 34 5 14.7 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.684103485 0.684103485 1 1.563508772 1.563508772 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000771 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 35853396 G A KCNE1 CCDS13636.1 r.? - - intronic 27 0 0 44 16 36.4 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.384574459 0.931833749 2.559012765 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 5.57E-26 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 35856183 C T CCNY CCDS7189.1 r.? - - intronic 48 0 0 59 26 44.1 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.77355406 1.207351202 2.297222263 1.680421053 1.680421053 1 NA NA 1 NA NA 0 4 NA 1 1 5.03E-44 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 35866088 G A - - - - - - 47 0 0 49 19 38.8 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 3.100902196 1.033634065 3 1.456 1.456 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-31 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 35882841 G A - - - - - - 54 0 0 60 5 8.3 49 2 4.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.663337325 0.663337325 1 0.523649123 0.523649123 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000136 1 0.025168485 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 35924153 C T Sep-07 ENST00000435235 r.? - - intronic 42 1 2.4 63 14 22.2 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 2.052353095 1.026176548 2 2.801496772 1.03371717 2.710119222 NA NA 0 NA NA 1 4 NA 0.189842622 1 1.81E-19 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 225204910 C T - - - - - - 43 0 0 33 22 66.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.662674651 1.331337325 2 2.324561404 1.162280702 2 NA NA 1 NA NA 1 4 NA 1 1 4.38E-43 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 24930805 T C - - - - - - 45 0 0 30 8 26.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.065868263 1.065868263 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.07E-12 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 36046906 C T - - - - - - 67 0 0 71 10 14.1 43 5 11.6 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.126874251 1.126874251 1 1.48154386 1.48154386 1 NA NA 1 NA NA 1 4 NA 1 1 3.42E-12 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 26322011 T A - - - - - - 54 0 0 30 19 63.3 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.526946108 1.263473054 2 2.596491228 1.298245614 2 NA NA 1 NA NA 1 4 NA 1 1 9.89E-37 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 36067542 G A - - - - - - 37 0 0 69 12 17.4 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.390610778 1.390610778 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.65E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 36103536 A C RECK CCDS6597.1 r.? - - intronic 47 0 0 50 6 12 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.615017286 0.615017286 1 1.553894737 1.553894737 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000206 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 36125552 C G - - - - - - 59 0 0 45 13 28.9 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.020692615 1.010346307 2 0.906438596 0.906438596 1 NA NA 1 NA NA 1 4 NA 1 1 7.68E-20 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 36158429 T C - - - - - - 55 0 0 19 4 21.1 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.631315369 0.631315369 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 36173968 A G - - - - - - 38 0 0 46 16 34.8 31 5 16.1 183 0 0 587 148 25.2 486 62 12.8 3.07E-47 TRUE TRUE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 1.737221557 0.868610778 2 1.508664072 1.508664072 1 1.257988024 1.257988024 1 1.19943479 1.19943479 1 4 3 1 1 1.31E-25 1.06E-199 0.000000476 5.44E-65 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 36062940 G A UGT3A2 CCDS3914.1 r.? - - intronic 51 0 0 35 12 34.3 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.369261477 1.369261477 1 0.535087719 0.535087719 1 NA NA 1 NA NA 1 4 NA 1 1 1.83E-19 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 37366954 G A NUP155 CCDS3921.1 r.? - - intronic 20 0 0 30 12 40 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 0.798403194 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.94E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 36228074 A G ENSG00000105663 CCDS46055.1 r.7460a>g c.7460A>G p.H2487R missense 18 0 0 40 14 35 14 5 35.7 234 1 0.4 67 19 28.4 68 8 11.8 4.33E-07 TRUE TRUE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.364821224 0.855388647 2.7646161 4.559578947 1.519859649 3 1.918883507 0.959441754 2 1.507087719 1.507087719 1 4 3 1 0.690542584 1.25E-22 3.67E-28 6.03E-09 2.21E-09 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 43923209 C A - - - - - - 62 0 0 31 7 22.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.902195609 0.902195609 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.85E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 36252937 C A GNE CCDS47965.1 r.? - - intronic 40 0 0 30 7 23.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 1.194158563 1.194158563 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.44E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 36260150 A T - - - - - - 53 0 0 30 11 36.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.09806986 1.09806986 1 1.728297472 1.728297472 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 51622634 C T - - - - - - 44 0 0 43 15 34.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.091213573 1.045606786 2 2.251333333 1.125666667 2 NA NA 1 NA NA 1 4 NA 1 1 4.05E-24 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 36295325 A C - - - - - - 30 0 0 31 5 16.1 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0.803714571 0.803714571 1 0.777758497 0.777758497 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000476 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 36324143 G T CXorf30 ENST00000378653 r.? - - intronic 56 0 0 52 8 15.4 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.268031555 1.268031555 1 1.897463513 1.897463513 1 NA NA 0 NA NA 0 4 NA 1 1 2.42E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 36327300 G T - - - - - - 56 0 0 47 17 36.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.27670424 0.991068333 2.297222263 1.745052632 1.745052632 1 NA NA 0 NA NA 1 4 NA 1 1 1.81E-27 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 36339249 C T CXorf30 ENST00000378653 r.? - - intronic 59 0 0 60 15 25 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 2.058492783 1.029246392 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.31E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 36397624 A G CXorf30 ENST00000378653 r.2538a>g c.2538A>G p.L846L silent 48 0 0 58 6 10.3 29 0 0 123 0 0 390 45 11.5 236 15 6.4 2.40E-08 FALSE TRUE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.848099027 0.848099027 1 0 NA 0 0.94690668 0.94690668 1 0.710161783 0.710161783 1 NA 3 1 1 0.000000506 1.24E-45 1 2.06E-12 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 4 36401031 T A - - - - - - 51 0 0 36 9 25 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.163441301 1.163441301 1 0.254070175 0.254070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.63E-13 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 58212185 G T - - - - - - 42 0 0 46 14 30.4 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.821572854 0.910786427 2 2.854561404 1.427280702 2 NA NA 1 NA NA 1 4 NA 1 1 1.26E-21 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 36453220 G A - - - - - - 60 0 0 60 29 48.3 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.247768593 1.123884297 2 2.325719298 1.162859649 2 NA NA 0 NA NA 1 4 NA 1 1 1.83E-50 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 36459546 C G - - - - - - 44 0 0 52 18 34.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 1.727237525 0.863618762 2 1.639852252 1.639852252 1 NA NA 1 NA NA 0 4 NA 1 1 1.39E-28 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 36472621 G A - - - - - - 43 0 0 31 10 32.3 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.182392158 1.091196079 2 2.222315789 2.222315789 1 NA NA 0 NA NA 1 4 NA 1 1 3.94E-16 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 36530035 G C SOCS7 CCDS32637.1 r.? - - intronic 20 0 0 32 11 34.4 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.373253493 1.373253493 1 1.34850718 1.34850718 1 NA NA 0 NA NA 0 4 NA 1 1 5.72E-18 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 36567258 A T - - - - - - 47 0 0 46 7 15.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0.758786427 0.758786427 1 1.377475892 1.377475892 1 NA NA 1 NA NA 0 4 NA 1 1 3.53E-09 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 36586714 C G AOAH CCDS5448.1 r.? - - intronic 45 0 0 96 35 36.5 52 10 19.2 2 0 0 12 2 16.7 4 0 0 1 TRUE FALSE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 3.374364324 0.900507138 3.747182205 2.891867636 0.963955879 3 1.543887238 1.543887238 1 0 NA 0 4 NA 1 1 4.09E-55 0.001595918 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 36586822 C T AOAH CCDS5448.1 r.? - - intronic 38 0 0 79 32 40.5 48 8 16.7 54 0 0 106 22 20.8 60 9 15 9.33E-09 TRUE TRUE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 3.744157674 0.999192852 3.747182205 2.515322371 0.928122405 2.710119222 1.922925423 0.961462711 2 2.25927159 1.129635795 2 4 3 1 1 2.44E-52 4.91E-29 1.23E-10 2.29E-11 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 60305183 G T NDUFAF2 CCDS3979.1 r.? - - intronic 38 0 0 31 13 41.9 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.510654691 1.255327345 2 2.563719298 1.281859649 2 NA NA 1 NA NA 1 4 NA 1 1 2.32E-22 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 36628422 T G - - - - - - 37 0 0 30 8 26.7 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.866868263 0.933434132 2 3.920052632 1.306684211 3 NA NA 1 NA NA 1 4 NA 1 1 2.07E-12 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 36658641 G T - - - - - - 46 0 0 36 6 16.7 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.777178789 0.777178789 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.68E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 36685580 G A ZNF565 CCDS12491.1 r.? - - intronic 43 0 0 41 6 14.6 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 0.986468282 0.986468282 1 2.132912281 2.132912281 1 NA NA 0 NA NA 1 4 NA 1 1 6.05E-08 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 36717621 C T - - - - - - 45 0 0 48 9 18.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.963527081 0.963527081 1 0.671 0.671 1 NA NA 0 NA NA 1 4 NA 1 1 2.75E-12 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 36727045 T A AOAH CCDS5448.1 r.? - - intronic 52 0 0 81 30 37 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 3.420588492 0.912842852 3.747182205 1.099512174 1.099512174 1 NA NA 0 NA NA 1 4 NA 1 1 1.02E-47 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 36775634 C G TGM2 CCDS13302.1 r.? - - intronic 14 0 0 42 25 59.5 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.970249501 1.48512475 2 1.013217234 1.013217234 1 NA NA 0 NA NA 1 4 NA 1 1 6.99E-47 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 36777464 T A - - - - - - 35 0 0 32 15 46.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.18261588 1.09130794 2 2.609105263 1.304552632 2 NA NA 0 NA NA 1 4 NA 1 1 1.59E-26 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 36824082 G T - - - - - - 50 0 0 43 8 18.6 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.30051497 1.30051497 1 0.929982456 0.929982456 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 36834349 C T FEZ2 ENST00000357996 r.? - - intronic 56 0 0 68 17 25 43 11 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.998003992 0.999001996 2 3.269614035 1.089871345 3 NA NA 1 NA NA 1 4 NA 1 1 2.69E-24 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 61278847 G T - - - - - - 42 0 0 35 8 22.9 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.372171657 1.372171657 1 1.389578947 1.389578947 1 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 36865565 G T C6orf89 CCDS4827.1 r.? - - intronic 39 0 0 50 11 22 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.350310876 7 5 4 3 3 0.649689124 1 6 NA 3 NA 0.350310876 NA 2.275311906 0.968089766 2.350310876 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.52E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 36888442 A C - - - - - - 44 0 0 49 8 16.3 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.758563728 0.758563728 1 1.504877193 1.504877193 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 36920044 C T PIP4K2B CCDS11329.1 r.? - - downstream 17 0 0 32 20 62.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.49500998 1.24750499 2 1.908656316 1.908656316 1 NA NA 0 NA NA 1 4 NA 1 1 2.03E-38 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 36928518 T C - - - - - - 41 0 0 20 9 45 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.346407186 1.346407186 1 0.986256709 0.986256709 1 NA NA 0 NA NA 1 4 NA 1 1 3.12E-16 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 36931362 C T - - - - - - 47 0 0 61 36 59 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.858042969 1.214510742 4 2.58543274 1.112325997 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.13E-66 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 63019662 C A - - - - - - 40 0 0 64 7 10.9 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.78E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 64129571 G T CWC27 CCDS3982.2 r.? - - intronic 63 0 0 50 18 36 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.157125749 1.078562874 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-29 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 37038557 G A EPM2AIP1 CCDS46790.1 r.? - - upstream 56 0 0 53 9 17 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.188642715 1.188642715 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.10E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 37040127 A C AC105201.1 ENST00000510201 r.? - - intronic 52 0 0 35 20 57.1 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 2.88E-37 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37071045 A C - - - - - - 47 0 0 58 8 13.8 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.136288016 1.136288016 1 1.475804955 1.475804955 1 NA NA 0 NA NA 0 4 NA 1 1 5.99E-10 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 37107770 G C - - - - - - 47 0 0 33 12 36.4 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.089093812 1.089093812 1 1.17411513 1.17411513 1 NA NA 0 NA NA 1 4 NA 1 1 7.86E-20 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 76213885 G A S100Z CCDS43333.1 r.? - - intronic 48 0 0 48 13 27.1 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.623836327 0.811918164 2 0.247754386 0.247754386 1 NA NA 1 NA NA 1 4 NA 1 1 2.00E-19 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 37144220 A G ZCCHC7 CCDS6608.2 r.? - - intronic 46 0 0 40 9 22.5 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 1.153157411 1.153157411 1 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 4.64E-13 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 37160010 A G - - - - - - 47 0 0 35 15 42.9 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 2.14157485 1.070787425 2 0.965170183 0.965170183 1 NA NA 1 NA NA 0 4 NA 1 1 9.02E-26 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 37169890 A G - - - - - - 53 0 0 37 6 16.2 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.753909963 0.753909963 1 1.114 1.114 1 NA NA 0 NA NA 1 4 NA 1 1 3.18E-08 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 78202625 G T ARSB CCDS4043.1 r.? - - intronic 53 0 0 54 26 48.1 47 11 23.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.882159681 1.44107984 2 2.520631579 1.260315789 2 NA NA 1 NA NA 1 4 NA 1 1 2.44E-45 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 37194520 C T PVALB CCDS13933.1 r.? - - downstream 26 0 0 27 10 37 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.955427021 0.97771351 2 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 7.62E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 37218918 C T HEATR5B CCDS33181.1 r.? - - intronic 43 0 0 56 18 32.1 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.565437126 0.855145709 3 2.88645614 0.962152047 3 NA NA 1 NA NA 1 4 NA 1 1 6.76E-28 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37224980 C A PRRG1 CCDS14239.1 r.? - - intronic 42 0 0 56 38 67.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.590866399 1.3977166 4 2.541047629 1.093230272 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 7.07E-74 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 37226786 T A - - - - - - 61 0 0 41 18 43.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 2.043002924 1.021501462 2 1.671 1.671 1 NA NA 0 NA NA 1 4 NA 1 1 6.91E-31 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 37244547 C A KIAA1239 CCDS47040.1 r.? - - upstream 27 0 0 41 12 29.3 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 1.363553205 1.363553205 1 1.084684211 1.084684211 1 NA NA 0 NA NA 1 4 NA 1 1 1.69E-18 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 164787 C T - - - - - - 57 0 0 48 8 16.7 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.23E-10 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 37290007 G A AC020928.2 ENST00000500219 r.? - - intronic 49 0 0 43 17 39.5 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.668869667 0.965367187 2.7646161 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.84E-28 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 3618241 C A - - - - - - 43 0 0 55 23 41.8 42 14 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 2.241508467 1.120754234 2 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 1.91E-38 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37300593 C T - - - - - - 36 0 0 44 16 36.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.817093812 0.908546906 2 2.374578947 1.187289474 2 NA NA 1 NA NA 1 4 NA 1 1 5.57E-26 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 78747477 C A HOMER1 CCDS43335.1 r.? - - intronic 22 0 0 42 15 35.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.139149701 1.06957485 2 2.973052632 1.486526316 2 NA NA 1 NA NA 1 4 NA 1 1 2.65E-24 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 81721944 T C - - - - - - 41 0 0 40 14 35 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.097205589 1.048602794 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 1.25E-22 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 37352064 C A ELMO1 CCDS5449.1 r.? - - intronic 54 0 0 96 19 19.8 59 7 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.412345877 0.858959596 2.808450931 1.792355462 1.792355462 1 NA NA 0 NA NA 0 4 NA 1 1 7.42E-25 1 2.12E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 83891628 C T - - - - - - 41 0 0 50 12 24 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.438083832 1.438083832 1 2.617578947 1.308789474 2 NA NA 1 NA NA 1 4 NA 1 1 2.49E-17 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37401987 G C - - - - - - 51 0 0 37 10 27 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.347844311 1.347844311 1 0.654719298 0.654719298 1 NA NA 1 NA NA 1 4 NA 1 1 3.01E-15 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37402288 G A ENSG00000250349 ENST00000465127 r.? - - intronic 15 0 0 51 31 60.8 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.006254449 1.251563612 4 3.695060526 1.589719129 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 3.28E-58 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 37404024 G A GOLGA4 CCDS2666.1 r.? - - intronic 19 0 0 36 10 27.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.943780439 0.97189022 2 3.36677193 1.12225731 3 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 37426339 C T ANKRD30A CCDS7193.1 r.? - - intronic 25 0 0 52 12 23.1 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.452814031 1.452814031 1 1.928175439 1.928175439 1 NA NA 1 NA NA 0 4 NA 1 1 4.19E-17 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37464808 C G LANCL3 CCDS14240.1 r.? - - intronic 42 0 0 51 6 11.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.971608594 0.971608594 1 1.952944902 1.952944902 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000232 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 37491795 A G GRIK3 CCDS416.1 r.? - - intronic 57 0 0 45 12 26.7 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.332868263 1.332868263 1 0.718087719 0.718087719 1 NA NA 0 NA NA 1 4 NA 1 1 6.03E-18 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 37531383 A T PRKD3 CCDS1789.1 r.? - - intronic 53 0 0 65 17 26.2 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.093908184 1.046954092 2 1.826385965 1.826385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.14E-24 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 37543089 G A PPP1R16B CCDS13309.1 r.? - - intronic 42 0 0 44 14 31.8 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4.362325493 2 2 2 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.905461078 0.952730539 2 1.859420638 1.859420638 1 NA NA 1 NA NA 1 4 NA 1 1 6.10E-22 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 37559756 G C FAM83D CCDS42872.1 r.? - - intronic 31 0 0 59 26 44.1 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4.362325493 2 2 2 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.642479042 1.321239521 2 2.11550851 1.057754255 2 NA NA 1 NA NA 1 4 NA 1 1 5.03E-44 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 37573958 T C FBXO10 CCDS47966.1 r.? - - intronic 46 0 0 47 21 44.7 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 2.29093939 1.145469695 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.29E-36 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 37621314 T G - - - - - - 55 0 0 99 19 19.2 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.339244487 0.832930517 2.808450931 1.717046409 1.717046409 1 NA NA 1 NA NA 0 4 NA 1 1 1.40E-24 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 37633022 T C - - - - - - 57 0 0 62 38 61.3 48 18 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.899105788 1.224776447 4 4.789473684 1.197368421 4 NA NA 1 NA NA 1 4 NA 1 1 3.14E-71 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 37667954 G T GPR124 CCDS6097.2 r.? - - intronic 35 0 0 27 7 25.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.774932136 0.774932136 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.36E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 37667955 A T GPR124 CCDS6097.2 r.? - - intronic 33 0 0 26 6 23.1 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.691155689 0.691155689 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 3.30E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37701215 G T - - - - - - 46 0 0 35 8 22.9 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 2.169368421 1.084684211 2 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 37711246 C T - - - - - - 44 0 0 72 20 27.8 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 3.38703108 0.889346126 3.808450931 3.584710923 0.96619831 3.710119222 NA NA 0 NA NA 0 4 NA 1 1 2.32E-29 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37749610 A T ENSG00000250349 ENST00000465127 r.? - - intronic 60 0 0 67 12 17.9 44 2 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.473880833 1.473880833 1 0.499332503 0.499332503 1 NA NA 0 NA NA 0 4 NA 1 1 1.14E-15 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37756402 G C ENSG00000250349 ENST00000465127 r.? - - intronic 32 0 0 56 11 19.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.613858342 1.613858342 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 5.91E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 37762528 C A - - - - - - 67 0 0 29 12 41.4 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.652694611 0.826347305 2 0.447368421 0.447368421 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-20 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37775819 G A ENSG00000250349 ENST00000465127 r.? - - intronic 33 1 3 61 34 55.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.586321921 1.14658048 4 2.607625296 1.12187386 2.32434803 NA NA 1 NA NA 0 4 NA 0.15245715 1 8.06E-62 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 37778391 A G PPP1R1B CCDS11339.1 r.? - - upstream 25 0 0 73 18 24.7 42 10 23.8 279 0 0 83 18 21.7 65 10 15.4 1.08E-09 TRUE TRUE 5.161492543 6.799497628 5 6 0 0 0.838507457 0.200502372 5 6 1 1 0.161492543 0.799497628 1.766916602 0.96106034 1.838507457 3.229999734 1.009216479 3.200502372 1.552311347 0.844332364 1.838507457 2.089999828 1.044999914 2 4 3 1 1 1.62E-25 2.09E-24 1.24E-14 1.36E-12 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 4 37804300 T C - - - - - - 48 0 0 40 6 15 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.698064781 0.698064781 1 1.436473684 1.436473684 1 NA NA 0 NA NA 1 4 NA 1 1 5.18E-08 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 37817641 C T - - - - - - 46 0 0 77 11 14.3 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 1.456 1.456 1 NA NA 1 NA NA 1 4 NA 1 1 2.41E-13 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 37848867 A C - - - - - - 44 0 0 34 4 11.8 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4.362325493 2 2 2 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.707057884 0.707057884 1 0.311759149 0.311759149 1 NA NA 1 NA NA 0 4 NA 1 1 0.0000257 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 86069979 C T - - - - - - 47 0 0 51 19 37.3 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.235021956 1.117510978 2 2.305192982 1.152596491 2 NA NA 1 NA NA 1 4 NA 1 1 7.94E-31 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 37887267 C T - - - - - - 63 0 0 37 9 24.3 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.21305988 1.21305988 1 0.654719298 0.654719298 1 NA NA 1 NA NA 1 4 NA 1 1 2.14E-13 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89892572 C T GPR98 CCDS47246.1 r.? - - intronic 14 0 0 35 15 42.9 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.57057485 1.285287425 2 2.305192982 2.305192982 1 NA NA 1 NA NA 1 4 NA 1 1 9.02E-26 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37916753 C A - - - - - - 55 0 0 39 5 12.8 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 0.57654386 0.57654386 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000156 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37923826 G A - - - - - - 48 0 0 23 4 17.4 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.868610778 0.868610778 1 1.250807018 1.250807018 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000513 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 37944620 T A - - - - - - 61 0 0 34 9 26.5 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.057884232 1.057884232 1 0.201754386 0.201754386 1 NA NA 1 NA NA 1 4 NA 1 1 9.15E-14 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37944856 C T SYTL5 CCDS14244.1 r.? - - intronic 53 0 0 69 10 14.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.193925814 1.193925814 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.54E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 37950490 T C IKZF3 CCDS11346.1 r.? - - intronic 41 0 0 79 51 64.6 49 17 34.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.161492543 6.799497628 5 6 0 0 0.838507457 0.200502372 5 6 1 1 0.161492543 0.799497628 4.621166498 0.955080991 4.838507457 4.709285326 0.941857065 5 NA NA 0 NA NA 1 4 NA 1 1 7.32E-97 1 4.26E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 37966047 G T IKZF3 CCDS11346.1 r.? - - intronic 38 0 0 111 19 17.1 54 4 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.161492543 6.799497628 5 6 0 0 0.838507457 0.200502372 5 6 1 1 0.161492543 0.799497628 1.223249955 1.223249955 1 1.004285632 1.004285632 1 NA NA 0 NA NA 1 4 NA 1 1 1.43E-23 1 0.000161898 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 37968937 G A IKZF3 CCDS11346.1 r.? - - intronic 40 0 0 63 17 27 49 9 18.4 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 5.161492543 6.799497628 5 6 0 0 0.838507457 0.200502372 5 6 1 1 0.161492543 0.799497628 1.931447298 0.965723649 2 2.497142651 1.134805708 2.200502372 0 NA 0 NA NA 1 4 NA 1 1 6.22E-25 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 37970473 G C - - - - - - 28 0 0 56 8 14.3 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.936797109 0.936797109 1 1.012385965 1.012385965 1 NA NA 0 NA NA 1 4 NA 1 1 4.48E-10 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 37972676 C A - - - - - - 30 0 0 38 17 44.7 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.811289489 1.223777749 2.297222263 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.99E-29 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 37993934 G T EPDR1 CCDS5454.1 r.? - - downstream 59 0 0 77 28 36.4 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 4.434817674 0.922296544 4.808450931 3.765452651 1.014914191 3.710119222 NA NA 1 NA NA 0 4 NA 1 1 2.30E-44 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 38003166 T C IKZF3 CCDS11346.1 r.? - - intronic 45 0 0 78 7 9 56 7 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.161492543 6.799497628 5 6 0 0 0.838507457 0.200502372 5 6 1 1 0.161492543 0.799497628 0.643815766 0.643815766 1 1.696428432 1.696428432 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000151 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 38017028 G T ZNF793 CCDS46062.1 r.? - - intronic 41 0 0 65 14 21.5 39 3 7.7 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.452675895 1.452675895 1 0.983438596 0.983438596 1 NA NA 0 0 0 1 4 NA 1 1 2.93E-19 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 38041817 C G SRPX CCDS14245.1 r.? - - intronic 53 0 0 70 31 44.3 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 3.647649212 0.970624187 3.758044835 1.03195384 1.03195384 1 NA NA 1 NA NA 0 4 NA 1 1 2.75E-52 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 97204844 T G - - - - - - 57 0 0 80 45 56.2 43 14 32.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 3.367512974 1.683756487 2 3.511649123 1.755824561 2 NA NA 1 NA NA 1 4 NA 1 1 1.39E-81 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 38085293 C T SRPX ENST00000343800 r.? - - upstream 58 0 0 57 5 8.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.72458946 0.72458946 1 1.797597012 1.797597012 1 NA NA 0 NA NA 0 4 NA 1 1 0.0000105 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 98300085 C T - - - - - - 33 0 0 38 22 57.9 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.311377246 1.155688623 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.91E-41 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 32719729 T G - - - - - - 33 0 0 30 7 23.3 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 1.249453284 1.249453284 1 1.071245614 1.071245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.44E-10 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 38096949 T C - - - - - - 61 0 0 83 12 14.5 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.76661693 0.976867495 1.808450931 0.73802872 0.73802872 1 NA NA 1 NA NA 0 4 NA 1 1 1.70E-14 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 38105195 C T - - - - - - 48 0 0 73 7 9.6 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.767233533 0.767233533 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 100465183 C T - - - - - - 55 0 0 27 6 22.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.23E-09 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 38114594 G A - - - - - - 32 0 0 37 6 16.2 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.830273336 0.830273336 1 0.906438596 0.906438596 1 NA NA 0 NA NA 1 4 NA 1 1 3.18E-08 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 38197762 A T FAM82A1 CCDS1792.1 r.? - - intronic 42 0 0 52 8 15.4 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.230770459 1.230770459 1 1.213333333 1.213333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-10 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 38219913 A C - - - - - - 49 0 0 62 18 29 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.9594233 0.97971165 2 1.456 1.456 1 NA NA 0 NA NA 1 4 NA 1 1 5.72E-27 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 100482550 G T - - - - - - 35 0 0 24 6 25 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.95E-09 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 38288363 G A BTBD9 CCDS47418.1 r.? - - intronic 39 0 0 41 18 43.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.203098217 7 2 4 2 3 0.796901783 1 3 NA 2 NA 0.203098217 NA 2.719655127 1.234468398 2.203098217 3.346578947 1.115526316 3 NA NA 0 NA NA 1 4 NA 1 1 6.91E-31 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 38336285 C A INPP5B CCDS41306.1 r.? - - intronic 29 0 0 32 8 25 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 3.69E-12 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 38345388 A G ZNF33A CCDS44372.1 r.2514a>g c.2336A>G p.E779G missense 53 0 0 40 11 27.5 36 9 25 141 0 0 265 114 43 319 45 14.1 1.02E-36 TRUE TRUE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.729540514 0.864770257 2 2.692982456 1.346491228 2 2.704372439 1.177235866 2.297222263 1.518842105 0.759421053 2 4 3 1 1 9.88E-17 4.99E-186 1.63E-13 1.12E-49 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 105227547 C T - - - - - - 38 0 0 37 16 43.2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.724550898 0.862275449 2 1.98245614 0.99122807 2 NA NA 1 NA NA 1 4 NA 1 1 1.78E-27 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 38402558 A G AC007245.3 ENST00000515771 r.? - - intronic 38 0 0 75 6 8 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.974685203 0.974685203 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000234 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 38418916 C T - - - - - - 42 0 0 32 17 53.1 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.119760479 1.05988024 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 4.02E-31 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 38445294 G T - - - - - - 37 0 0 52 14 26.9 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.691805084 0.845902542 2 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 9.04E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 38470518 G A - - - - - - 40 0 0 46 17 37 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4.362325493 2 2 2 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.217045908 1.108522954 2 2.026434468 2.026434468 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-27 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 38477329 G A - - - - - - 67 0 0 28 12 42.9 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.28357485 1.28357485 1 2.911805523 1.455902762 2 NA NA 0 NA NA 1 4 NA 1 1 6.90E-21 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 38486537 G A UTP11L CCDS429.1 r.? - - intronic 37 0 0 45 5 11.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.554113772 0.554113772 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 38495324 G A LIFR CCDS3927.1 r.? - - intronic 50 0 0 29 15 51.7 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.063872255 1.031936128 2 2.271929825 1.135964912 2 NA NA 1 NA NA 1 4 NA 1 1 2.22E-27 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 38509319 C T SIPA1L3 CCDS33007.1 r.? - - intronic 46 0 0 30 5 16.7 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.128357555 1.128357555 1 0.344842105 0.344842105 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000401 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 38578557 C G LIFR CCDS3927.1 r.? - - intronic 29 1 3.4 30 19 63.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.526946108 1.263473054 2 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 0.135292269 1 9.89E-37 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 38600581 G C MAFF CCDS13968.1 r.? - - intronic 28 0 0 26 12 46.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.441641307 0.901947133 2.707078074 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.21E-21 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 38602154 A G - - - - - - 38 0 0 36 10 27.8 16 3 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.109780439 1.109780439 1 1.649122807 1.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 35938222 A T - - - - - - 44 0 0 43 8 18.6 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.30051497 1.30051497 1 0.329614035 0.329614035 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 38684362 C T - - - - - - 46 0 0 19 6 31.6 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.261477046 1.261477046 1 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 4.01E-10 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 108280746 G A FER CCDS4098.1 r.? - - intronic 52 0 0 46 23 50 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.5 1.5 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-41 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 38763998 C T - - - - - - 53 0 0 31 15 48.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.932135729 0.966067864 2 1.701754386 1.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 8.51E-27 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 38780047 C T VPS41 CCDS5457.1 r.? - - intronic 38 0 0 85 16 18.8 34 5 14.7 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.290510227 1.145255113 2 2.214086159 2.214086159 1 0 NA 0 NA NA 0 4 NA 1 1 8.67E-21 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 38834071 C A - - - - - - 51 0 0 39 8 20.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.818363273 0.818363273 1 1.921052632 1.921052632 1 NA NA 1 NA NA 1 4 NA 1 1 2.09E-11 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 38835305 G C DNAH8 CCDS4838.1 r.? - - intronic 27 0 0 49 14 28.6 24 2 8.3 2 0 0 0 0 NA 2 0 0 1 TRUE FALSE 4.203098217 7 2 4 2 3 0.796901783 1 3 NA 2 NA 0.203098217 NA 1.771802657 0.885901328 2 1.143070175 1.143070175 1 NA NA 0 0 0 1 4 NA 1 1 3.50E-21 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 121037110 C G - - - - - - 67 0 0 41 7 17.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.682634731 0.682634731 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.51E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 38873080 G A - - - - - - 53 0 0 37 5 13.5 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.538922156 0.538922156 1 0.333333333 0.333333333 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000119 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 38993585 T C - - - - - - 44 0 0 46 5 10.9 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 38994305 C T - - - - - - 14 0 0 24 13 54.2 13 5 38.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 4 2 3 1 1 0.866871919 1 2 NA 2 NA 0.133128081 NA 2.777828075 1.388914037 2 4.147192982 1.382397661 3 NA NA 0 NA NA 1 4 NA 1 1 2.90E-24 1 3.89E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 39016803 A T - - - - - - 34 0 0 35 23 65.7 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.409719035 1.352429759 4 4.161104195 1.790224244 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 9.39E-45 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 39029226 G C - - - - - - 47 0 0 66 15 22.7 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 1.360187625 1.360187625 1 1.153649123 1.153649123 1 NA NA 0 NA NA 1 4 NA 1 1 6.45E-21 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 130104713 G T - - - - - - 56 0 0 23 4 17.4 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.694610778 0.694610778 1 0.228070175 0.228070175 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000513 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 39061722 C T - - - - - - 30 0 0 46 12 26.1 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.641491178 0.820745589 2 1.842 1.842 1 NA NA 1 NA NA 0 4 NA 1 1 8.12E-18 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 39065279 C T - - - - - - 50 0 0 41 6 14.6 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.918228782 0.918228782 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 39112522 C T WDR48 CCDS33738.1 r.? - - intronic 51 0 0 32 7 21.9 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.531251497 1.531251497 1 1.212508772 1.212508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.36E-10 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 39147554 A G ACTN4 CCDS12518.1 r.? - - intronic 42 0 0 41 12 29.3 29 0 0 236 0 0 170 45 26.5 128 0 0 1 TRUE TRUE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.979693196 0.989846598 2 0 0 1 1.790507498 1.014672539 1.7646161 0 0 1 3 2 1 1 1.69E-18 4.96E-63 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 7 39205155 C G POU6F2 CCDS34620.2 r.? - - intronic 53 0 0 109 25 22.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.790036394 0.993443169 2.808450931 3.087671173 1.029223724 3 NA NA 1 NA NA 0 4 NA 1 1 5.58E-34 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 39257078 G A LGALS7 CCDS33012.1 r.? - - downstream 36 0 0 38 5 13.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 0.891875433 0.891875433 1 1.941333333 1.941333333 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000137 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 39265404 A T - - - - - - 36 0 0 56 13 23.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.910281303 0.955140651 2 1.753211901 1.753211901 1 NA NA 1 NA NA 0 4 NA 1 1 1.89E-18 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 39267782 C G - - - - - - 47 0 0 39 12 30.8 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.229540918 1.229540918 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 8.43E-19 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 39271466 G A - - - - - - 65 0 0 49 17 34.7 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 1.732229541 0.86611477 2 1.499293488 1.499293488 1 NA NA 1 NA NA 0 4 NA 1 1 4.26E-27 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 39271629 G A - - - - - - 51 0 0 45 10 22.2 37 10 27 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 3.178421053 1.059473684 3 NA NA 0 NA NA 1 4 NA 1 1 2.66E-14 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 39289325 A G POU6F2 CCDS34620.2 r.? - - intronic 51 0 0 83 19 22.9 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.790036394 0.993443169 2.808450931 2.24420978 1.12210489 2 NA NA 1 NA NA 0 4 NA 1 1 3.60E-26 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 151539706 G T - - - - - - 17 0 0 22 8 36.4 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 1.684210526 1.684210526 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 39310704 G T POU6F2 CCDS34620.2 r.? - - intronic 30 0 0 91 25 27.5 48 5 10.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 3.350480385 1.116826795 3 1.566428303 1.566428303 1 NA NA 1 NA NA 0 4 NA 1 1 3.47E-36 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 39327437 A G HNRNPL CCDS33015.1 r.? - - intronic 30 0 0 37 9 24.3 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.641861592 1.641861592 1 3.192982456 1.064327485 3 NA NA 0 NA NA 1 4 NA 1 1 2.14E-13 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 39343324 T C HNRNPL CCDS33015.1 r.? - - upstream 16 0 0 53 13 24.5 12 4 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.655374857 0.938093479 1.7646161 4.253052632 1.417684211 3 NA NA 0 NA NA 1 4 NA 1 1 8.53E-19 1 0.0000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 39362608 G T KIF6 CCDS4844.1 r.? - - intronic 66 0 0 64 17 26.6 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 2.223540331 0.93932899 2.36715821 0.625824561 0.625824561 1 NA NA 1 NA NA 0 4 NA 1 1 8.43E-25 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 39380427 C T RHBDL2 CCDS30680.1 r.? - - intronic 37 0 0 41 21 51.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.555912176 1.277956088 2 2.554508772 0.851502924 3 NA NA 0 NA NA 1 4 NA 1 1 1.17E-37 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 39399930 G T RHBDL2 CCDS30680.1 r.? - - intronic 35 0 0 36 6 16.7 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 2.68E-08 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 39463761 C G AKIRIN1 CCDS433.1 r.? - - intronic 53 0 0 38 12 31.6 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.577477046 1.577477046 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 5.86E-19 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 39466556 C T KIF6 CCDS4844.1 r.? - - intronic 42 0 0 59 6 10.2 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 0.852635766 0.852635766 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000561 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 39473005 C G - - - - - - 24 0 0 44 15 34.1 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.384277445 1.192138723 2 1.742245614 1.742245614 1 NA NA 1 NA NA 1 4 NA 1 1 6.12E-24 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 39477072 A T KIF6 CCDS4844.1 r.? - - intronic 46 0 0 71 34 47.9 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 4.004044431 1.001011108 4 4.559578947 1.139894737 4 NA NA 1 NA NA 0 4 NA 1 1 1.02E-58 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 39518047 A G - - - - - - 46 0 0 100 12 12 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.462027804 1.462027804 1 3.584710923 0.96619831 3.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.71E-13 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 39533984 G C - - - - - - 53 0 0 49 6 12.2 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 0.824309112 0.824309112 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 39578882 G A - - - - - - 50 0 0 60 9 15 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.23509567 1.23509567 1 1.542382622 1.542382622 1 NA NA 1 NA NA 0 4 NA 1 1 2.29E-11 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 39631240 T G - - - - - - 49 0 0 39 7 17.9 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 1.084684211 1.084684211 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-09 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 39651221 C A PNN CCDS9671.1 r.2367c>a c.? p.? 3'UTR variant 46 0 0 30 4 13.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.530938124 0.530938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 39664796 G A KRT13 CCDS11396.1 r.? - - upstream 45 0 0 50 36 72 37 12 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.161492543 6.799497628 5 6 0 0 0.838507457 0.200502372 5 6 1 1 0.161492543 0.799497628 5.150526128 1.030105226 5 4.397142495 1.046813477 4.200502372 NA NA 0 NA NA 0 4 NA 1 1 1.27E-71 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 152156476 G A - - - - - - 56 0 0 41 16 39 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.556886228 0.778443114 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.40E-26 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 39702552 T C - - - - - - 34 0 0 29 10 34.5 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.79E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 39820070 C T - - - - - - 45 0 0 74 10 13.5 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.078922156 1.078922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.24E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 39822962 G T - - - - - - 39 0 0 54 34 63 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.187401814 1.296850453 4 3.262305689 1.403535807 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.70E-64 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 39838253 A C ZHX3 CCDS13315.1 r.? - - intronic 42 0 0 43 17 39.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 2.366846307 1.183423154 2 2.519192982 0.839730994 3 NA NA 0 NA NA 1 4 NA 1 1 2.84E-28 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 39868601 G A - - - - - - 60 0 0 104 24 23.1 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.814403524 1.002119529 2.808450931 1.958035378 1.958035378 1 NA NA 1 NA NA 0 4 NA 1 1 9.41E-33 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 39939276 G A - - - - - - 64 0 0 36 21 58.3 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.327345309 1.163672655 2 1.684210526 1.684210526 1 NA NA 1 NA NA 1 4 NA 1 1 2.47E-39 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 39961062 G T ABCD2 CCDS8734.1 r.? - - intronic 46 0 0 52 8 15.4 51 5 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.768770459 0.768770459 1 0.957649123 0.957649123 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-10 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 39974471 T G - - - - - - 57 0 0 78 45 57.7 49 19 38.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 4.823243501 1.104435257 4.36715821 4.955508772 1.238877193 4 NA NA 0 NA NA 0 4 NA 1 1 2.64E-82 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 40030752 G A PABPC4 CCDS44114.1 r.? - - intronic 46 0 0 41 12 29.3 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.462660679 1.462660679 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 1.69E-18 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 40040220 G C - - - - - - 35 0 0 63 15 23.8 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 1.989483454 0.994741727 2 2.081824561 1.040912281 2 NA NA 1 NA NA 1 4 NA 1 1 2.97E-21 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 40060778 G T - - - - - - 53 0 0 22 9 40.9 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.632734531 1.632734531 1 2.394736842 1.197368421 2 NA NA 1 NA NA 1 4 NA 1 1 9.16E-16 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 40071337 G A - - - - - - 37 0 0 29 14 48.3 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.928143713 0.964071856 2 3.324561404 1.662280702 2 NA NA 1 NA NA 1 4 NA 1 1 4.41E-25 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 153554630 G T - - - - - - 49 0 0 40 19 47.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.896207585 0.948103792 2 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.27E-33 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 154739770 A G - - - - - - 50 0 0 36 9 25 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 0.394736842 0.394736842 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 40092064 G A LGALS13 CCDS33024.1 r.? - - upstream 64 0 0 49 15 30.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.067529413 1.033764706 2 1.992421053 0.996210526 2 NA NA 0 NA NA 1 4 NA 1 1 4.10E-23 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 40095531 T C LGALS13 CCDS33024.1 r.? - - intronic 36 0 0 36 12 33.3 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.249958479 1.124979239 2 0.983438596 0.983438596 1 NA NA 0 NA NA 1 4 NA 1 1 2.73E-19 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 155332460 C A - - - - - - 35 0 0 29 8 27.6 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.101796407 1.101796407 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.53E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 40138086 C T LRRC4C CCDS31464.1 r.? - - intronic 40 0 0 31 6 19.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 1.084684211 1.084684211 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-08 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 58673816 C T - - - - - - 26 0 0 48 10 20.8 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.111998944 1.111998944 1 1.718701754 1.718701754 1 NA NA 0 NA NA 1 4 NA 1 1 5.37E-14 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 40147391 C T MYRIP CCDS2689.1 r.? - - intronic 47 0 0 43 8 18.6 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.30051497 1.30051497 1 1.177192982 1.177192982 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 40181997 C G LRRC4C CCDS31464.1 r.? - - intronic 50 0 0 39 7 17.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 156214983 C T - - - - - - 45 0 0 46 16 34.8 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.085221557 1.042610778 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 1.31E-25 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 156264154 C A - - - - - - 41 0 0 44 8 18.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 1.637333333 1.637333333 1 NA NA 1 NA NA 1 4 NA 1 1 5.90E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 40240581 T A CHD6 CCDS13317.1 r.? - - intronic 39 0 0 46 7 15.2 45 5 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 3.53E-09 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 40328035 C A - - - - - - 24 0 0 39 13 33.3 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 1.76870011 1.052419173 1.680604226 1.883508772 1.883508772 1 NA NA 0 NA NA 1 4 NA 1 1 8.79E-21 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 40344958 G C - - - - - - 35 0 0 38 17 44.7 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 3.020214534 1.0924535 2.7646161 1.890245614 1.890245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.99E-29 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 40379396 T A BMF CCDS10052.1 r.? - - downstream 39 0 0 38 5 13.2 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0.658946108 0.658946108 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 40379397 A T BMF CCDS10052.1 r.? - - downstream 38 0 0 38 5 13.2 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0.658946108 0.658946108 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 40379398 T A BMF CCDS10052.1 r.? - - downstream 38 0 0 37 5 13.5 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0.673922156 0.673922156 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 40434454 C T C7orf10 ENST00000309930 r.? - - intronic 47 0 0 87 6 6.9 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.840665988 0.840665988 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000558 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 157773274 T G - - - - - - 66 0 0 56 17 30.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.821572854 0.910786427 2 2.606807018 1.303403509 2 NA NA 1 NA NA 1 4 NA 1 1 6.22E-26 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 40456713 G C - - - - - - 54 0 0 40 20 50 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.19E-35 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 40461140 A T - - - - - - 57 0 0 36 16 44.4 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 0.701754386 0.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-27 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 40505460 C T C7orf10 ENST00000309930 r.? - - intronic 29 0 0 99 7 7.1 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.865033118 0.865033118 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000778 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 60648412 A C FHIT CCDS2894.1 r.? - - intronic 65 0 0 44 14 31.8 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.700075309 1.032935897 1.645867197 0.871122807 0.871122807 1 NA NA 0 NA NA 1 4 NA 1 1 6.10E-22 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 40526754 C T ZMAT4 CCDS34885.1 r.? - - intronic 49 0 0 25 10 40 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.196806387 1.196806387 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.98E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 40551835 G T TNRC6B CCDS46712.1 r.? - - intronic 57 1 1.8 40 17 42.5 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.246098605 1.123049302 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 0.248523156 1 6.07E-29 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 162086622 C A - - - - - - 42 0 0 54 4 7.4 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.443409182 0.443409182 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000161898 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 40613551 A G ZMAT4 CCDS34885.1 r.? - - intronic 52 0 0 25 9 36 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.077125749 1.077125749 1 0.497824815 0.497824815 1 NA NA 0 NA NA 1 4 NA 1 1 3.71E-15 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 40615429 A G - - - - - - 62 0 0 51 23 45.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.251399202 1.125699601 2 2.23777193 1.118885965 2 NA NA 1 NA NA 1 4 NA 1 1 2.05E-39 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 40641936 C T C7orf10 ENST00000309930 r.? - - intronic 49 0 0 92 7 7.6 56 3 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.925950943 0.925950943 1 0.813337773 0.813337773 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000472 1 0.00284314 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 40677294 C G BRWD1 CCDS13663.1 r.? - - intronic 45 0 0 29 14 48.3 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 2.565411871 0.957027466 2.680604226 4.073087719 1.01827193 4 NA NA 0 NA NA 1 4 NA 1 1 4.41E-25 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 40725737 G A - - - - - - 14 0 0 17 4 23.5 6 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 4 2 3 1 1 0.866871919 1 2 NA 2 NA 0.133128081 NA 1.204408852 1.204408852 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 162641759 G A - - - - - - 52 0 0 50 6 12 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.719041916 0.719041916 1 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000206 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 40805301 G C - - - - - - 51 0 0 64 5 7.8 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 0.652015586 0.652015586 1 1.341052632 1.341052632 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000186 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 40810214 C A C7orf10 ENST00000309930 r.? - - intronic 52 0 0 132 64 48.5 50 13 26 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 5.909029043 0.984838174 6 3.916070757 0.979017689 4 NA NA 1 NA NA 0 4 NA 1 1 1.38E-109 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 40833064 G T C19orf47 CCDS12553.1 r.? - - intronic 31 0 0 38 8 21.1 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.425649366 1.425649366 1 1.890245614 1.890245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 40877613 T C - - - - - - 61 0 0 67 8 11.9 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.9510499 0.9510499 1 1.341052632 1.341052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.96E-09 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 40933664 G T SERTAD1 CCDS12557.1 r.? - - upstream 25 0 0 44 19 43.2 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.918865053 1.055793987 2.7646161 2.452210526 0.817403509 3 NA NA 0 NA NA 1 4 NA 1 1 2.39E-32 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 40946083 G T - - - - - - 47 0 0 35 5 14.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 40949111 T G - - - - - - 58 0 0 32 10 31.2 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.245508982 1.245508982 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.70E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 40984641 C T DEM1 CCDS453.1 r.? - - downstream 55 0 0 33 14 42.4 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.11661477 1.058307385 2 3.213736842 1.071245614 3 NA NA 0 NA NA 1 4 NA 1 1 4.57E-24 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 40986399 A G USP9X CCDS43930.1 r.? - - intronic 47 0 0 54 34 63 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.187401814 1.296850453 4 2.918321076 1.255543937 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.70E-64 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 168609101 G A SLIT3 CCDS4369.1 r.? - - intronic 45 0 0 41 7 17.1 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.024634731 1.024634731 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.51E-09 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 169300330 C A DOCK2 CCDS4371.1 r.? - - intronic 51 0 0 45 7 15.6 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.934754491 0.934754491 1 0.754035088 0.754035088 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000003 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 41164214 T G - - - - - - 54 0 0 96 4 4.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.511709732 0.511709732 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.001440082 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 61488503 G A - - - - - - 40 0 0 45 12 26.7 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.427421722 1.427421722 1 0.588596491 0.588596491 1 NA NA 0 NA NA 1 4 NA 1 1 6.03E-18 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 41216016 G C NFYC CCDS44120.1 r.? - - intronic 47 0 0 42 17 40.5 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.021766467 1.010883234 2 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 1.73E-28 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 41253528 T G - - - - - - 66 0 0 41 17 41.5 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.656686627 0.828343313 2 2.026315789 2.026315789 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-28 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 41261521 T C - - - - - - 68 0 0 46 28 60.9 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.431137725 1.215568862 2 0.587719298 0.587719298 1 NA NA 1 NA NA 1 4 NA 1 1 9.63E-53 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 41320641 C A - - - - - - 56 0 0 27 15 55.6 23 7 30.4 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 2.953144928 0.984381643 3 3.578666667 0.894666667 4 0 NA 0 NA NA 1 4 NA 1 1 5.01E-28 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 41356874 A T - - - - - - 51 0 0 64 7 10.9 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.871129741 0.871129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.78E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 41398539 G T - - - - - - 52 0 0 62 11 17.7 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 1.479573829 1.479573829 1 0.370385965 0.370385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.96E-14 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 41402870 C T ENSG00000130612 ENST00000252909 r.? - - intronic 40 0 0 42 16 38.1 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.574276818 0.931151641 2.7646161 1.903017544 1.903017544 1 NA NA 0 NA NA 1 4 NA 1 1 2.25E-26 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 41407896 C T - - - - - - 50 0 0 42 9 21.4 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 0.570175439 0.570175439 1 NA NA 1 NA NA 1 4 NA 1 1 7.51E-13 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 41429083 C A - - - - - - 41 0 0 37 7 18.9 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.943491018 0.943491018 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 7.05E-10 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 41438786 G T - - - - - - 52 0 0 64 6 9.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.751249501 0.751249501 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000914 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 41503772 G A CASK CCDS48095.1 r.? - - intronic 49 0 0 63 39 61.9 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.096828131 1.274207033 4 3.484231246 1.499014434 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 2.53E-73 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 41526396 A G ULK4 CCDS43071.1 r.? - - intronic 28 0 0 47 25 53.2 38 10 26.3 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 3.719752495 1.239917498 3 3.096017544 1.032005848 3 6.992015968 6.992015968 1 NA NA 1 4 NA 1 1 3.98E-45 0.005 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84202476 C T - - - - - - 49 0 0 50 19 38 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.031536533 1.015768267 2 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 5.00E-31 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 41531184 C T DSCAM CCDS42929.1 r.? - - intronic 44 0 0 26 18 69.2 32 7 21.9 139 0 0 117 48 41 153 40 26.1 3.64E-44 TRUE TRUE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 3.675496925 1.225165642 3 2.578052632 0.859350877 3 2.177678814 1.088839407 2 3.072473684 1.024157895 3 4 3 1 1 5.74E-36 4.73E-78 2.36E-10 5.77E-56 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 41541005 G A - - - - - - 39 0 0 86 11 12.8 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.022978044 1.022978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.47E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 41617775 G A OIP5 CCDS10074.1 r.? - - intronic 15 0 0 22 8 36.4 26 2 7.7 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 1.817093812 0.908546906 2 0.721534991 0.721534991 1 NA NA 1 NA NA 0 4 NA 1 1 1.17E-13 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 41620602 A T - - - - - - 51 1 2 27 14 51.9 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.071856287 1.035928144 2 3.192982456 1.596491228 2 NA NA 1 NA NA 1 4 NA 0.225579006 1 1.15E-25 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 41683981 G A CASK CCDS48095.1 r.? - - intronic 47 0 0 63 8 12.7 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.045714334 1.045714334 1 1.586767733 1.586767733 1 NA NA 0 NA NA 0 4 NA 1 1 1.18E-09 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 178847560 G T - - - - - - 8 0 0 18 5 27.8 17 8 47.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 2.221780439 2.221780439 1 6.015578947 2.005192982 3 NA NA 1 NA NA 1 4 NA 1 1 2.54E-08 1 9.12E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 41712357 C T CASK CCDS48095.1 r.? - - intronic 44 0 0 65 6 9.2 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.757525344 0.757525344 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 41724959 C A INHBA CCDS5464.1 r.5817g>u c.? p.? 3'UTR variant 52 0 0 85 10 11.8 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.437660674 1.437660674 1 0.662719667 0.662719667 1 NA NA 1 NA NA 0 4 NA 1 1 2.17E-11 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 2485726 C A - - - - - - 42 0 0 65 5 7.7 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 0.479570626 0.479570626 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 41751107 T A CASK CCDS48095.1 r.? - - intronic 62 0 0 55 40 72.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.986097014 1.496524253 4 1.986233736 0.993116868 2 NA NA 1 NA NA 0 4 NA 1 1 1.01E-79 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 41778032 C A OXCT1 CCDS3937.1 r.? - - intronic 56 0 0 29 17 58.6 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.339321357 1.169660679 2 1.701754386 1.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 3.74E-32 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 41789078 C T MYST3 CCDS6124.1 r.7204g>a c.? p.? 3'UTR variant 37 0 0 23 10 43.5 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.301526946 1.301526946 1 0.666897394 0.666897394 1 NA NA 0 NA NA 0 4 NA 1 1 1.05E-17 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 41845564 A G - - - - - - 51 1 2 96 14 14.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.778800495 0.983604512 1.808450931 0 NA 0 NA NA 1 NA NA 0 NA NA 0.225579006 1 9.96E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 41910569 G C CCND3 CCDS47426.1 r.? - - intronic 30 0 0 55 17 30.9 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.851532934 0.925766467 2 1.440037127 1.440037127 1 NA NA 1 NA NA 0 4 NA 1 1 4.35E-26 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 3836318 C A - - - - - - 46 0 0 51 5 9.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 0.610362615 0.610362615 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 41944198 T A - - - - - - 46 0 0 108 13 12 48 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.462027804 1.462027804 1 0.316298023 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.62E-14 1 0.213845552 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 4952806 C T CDYL CCDS47364.1 r.? - - intronic 29 0 0 45 10 22.2 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.382658168 1.382658168 1 1.027679465 1.027679465 1 NA NA 0 NA NA 1 4 NA 1 1 2.66E-14 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 41950425 C G EDN2 CCDS462.1 r.? - - upstream 21 0 0 45 14 31.1 12 3 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.552516966 0.776258483 2 2.942982456 2.942982456 1 NA NA 0 NA NA 1 4 NA 1 1 8.81E-22 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 41954693 G A C19orf69 CCDS46085.1 r.? - - downstream 39 0 0 25 5 20 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.351326414 1.351326414 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000153 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 41979403 C T AC011526.1 CCDS4419.1 r.? - - intronic 60 0 0 59 15 25.4 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.716184545 0.972554056 1.7646161 1.966877193 1.966877193 1 NA NA 0 NA NA 1 4 NA 1 1 9.90E-22 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 41985468 T A - - - - - - 39 0 0 78 6 7.7 35 0 0 208 0 0 278 8 2.9 155 0 0 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.938134508 0.938134508 1 0 NA 0 0.353323386 0.353323386 1 0 NA 0 NA NA 1 1 0.00000295 0.0000947 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 2 42021377 A G - - - - - - 34 0 0 48 7 14.6 43 2 4.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.166834331 1.166834331 1 0.600280702 0.600280702 1 NA NA 1 NA NA 1 4 NA 1 1 4.81E-09 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 42049539 C A - - - - - - 55 0 0 58 10 17.2 47 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.202626747 1.202626747 1 0.247210526 0.247210526 1 NA NA 1 NA NA 1 4 NA 1 1 4.10E-13 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 42064573 G A - - - - - - 51 0 0 75 15 20 55 10 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.598403194 0.799201597 2 2.324491228 1.162245614 2 NA NA 1 NA NA 1 4 NA 1 1 5.25E-20 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 42123466 C A DSCAM CCDS42929.1 r.? - - intronic 41 0 0 35 19 54.3 24 11 45.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 2.884096576 0.961365525 3 5.39154386 1.347885965 4 NA NA 0 NA NA 1 4 NA 1 1 7.18E-35 1 1.15E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 42191922 A T CEACAM7 CCDS12583.1 r.? - - intronic 16 0 0 53 8 15.1 43 2 4.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.020251442 1.020251442 1 0.600280702 0.600280702 1 NA NA 0 NA NA 1 4 NA 1 1 2.83E-10 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 42207893 A T - - - - - - 25 0 0 40 16 40 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.996806387 0.998403194 2 1.68077193 1.68077193 1 NA NA 1 NA NA 1 4 NA 1 1 8.56E-27 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 42217234 A G - - - - - - 40 0 0 62 41 66.1 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.442654919 1.36066373 4 3.695060526 1.589719129 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 7.56E-79 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 6669417 A G - - - - - - 51 0 0 60 23 38.3 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 2.385396749 1.066731289 2.236173977 3.380198723 1.126732908 3 NA NA 0 NA NA 1 4 NA 1 1 2.33E-37 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 42236940 A T TRERF1 CCDS4867.1 r.952u>a c.389T>A p.I130N missense 17 0 0 36 11 30.6 27 3 11.1 110 0 0 83 23 27.7 60 3 5 0.022420165 TRUE TRUE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.833556886 0.916778443 2 1.149957705 1.149957705 1 1.659788423 0.829894212 2 0.517998966 0.517998966 1 4 3 1 1 2.62E-17 1.64E-33 0.000334187 0.003458198 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 14 42241954 G A LRFN5 CCDS9678.1 r.? - - intronic 51 0 0 39 14 35.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.433133733 1.433133733 1 2.122807018 1.061403509 2 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 42249614 C A TRERF1 CCDS4867.1 r.? - - intronic 38 0 0 42 10 23.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.4260998 1.4260998 1 1.781916444 1.781916444 1 NA NA 1 NA NA 0 4 NA 1 1 1.24E-14 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 42289048 C T - - - - - - 38 0 0 52 7 13.5 29 2 6.9 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.111586103 1.111586103 1 0.765643172 0.765643172 1 NA NA 1 NA NA 0 4 NA 1 1 8.58E-09 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 42290806 A C SLC20A2 CCDS6132.1 r.? - - intronic 59 0 0 24 9 37.5 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.122005988 1.122005988 1 0.80779121 0.80779121 1 NA NA 0 NA NA 0 4 NA 1 1 2.39E-15 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 9681801 G T OFCC1 ENST00000460363 r.? - - intronic 50 0 0 47 13 27.7 51 9 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.725208615 0.862604307 2 2.179175733 0.911693827 2.390249522 NA NA 0 NA NA 1 4 NA 1 1 1.47E-19 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 42321333 C T KIAA0564 CCDS41881.1 r.? - - intronic 41 0 0 40 24 60 33 11 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 3.47E-45 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 42338750 C T PLA2G4E ENST00000399518 r.? - - intronic 45 0 0 43 18 41.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 2.091654691 1.045827345 2 2.408240165 1.50641693 1.598654474 NA NA 1 NA NA 0 4 NA 1 1 2.06E-30 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 42351776 T C LRFN5 CCDS9678.1 r.? - - intronic 31 0 0 32 17 53.1 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.119760479 1.05988024 2 1.385964912 1.385964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.02E-31 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 42355039 C A - - - - - - 50 0 0 90 7 7.8 57 7 12.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.950318073 0.950318073 1 1.852602704 1.852602704 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000406 1 1.66E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 42476615 C G - - - - - - 13 0 0 21 7 33.3 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.996341317 0.996341317 1 1.878584208 1.878584208 1 NA NA 0 NA NA 0 4 NA 1 1 8.54E-12 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 42489527 G C - - - - - - 67 0 0 34 15 44.1 48 11 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.201479042 1.100739521 2 2.69577193 0.898590643 3 NA NA 0 NA NA 1 4 NA 1 1 5.18E-26 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 42503921 C A - - - - - - 47 0 0 56 8 14.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.177457872 1.177457872 1 1.731019345 1.731019345 1 NA NA 1 NA NA 0 4 NA 1 1 4.48E-10 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 42584295 G T UBR2 CCDS4870.1 r.? - - intronic 46 0 0 56 7 12.5 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.749001996 0.749001996 1 0.352239297 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.46E-08 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 42640665 G C TOX2 CCDS42875.1 r.? - - intronic 35 0 0 45 15 33.3 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 9.14E-24 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 42757244 C A - - - - - - 54 0 0 41 4 9.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.489217565 0.489217565 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000546 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 42760610 C T KIAA0240 CCDS34451.1 r.? - - intronic 45 0 0 52 15 28.8 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.725700599 0.862850299 2 0.694118615 0.694118615 1 NA NA 1 NA NA 0 4 NA 1 1 1.15E-22 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 42780543 G A MTA3 ENST00000405592 r.? - - intronic 24 0 0 51 17 33.3 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 9.59E-27 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 42858353 A T TMPRSS2 CCDS33564.1 r.? - - intronic 17 0 0 30 12 40 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 2.124564697 1.062282348 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.94E-20 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 42862654 A T - - - - - - 47 0 0 92 20 21.7 52 6 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.643833613 0.941385012 2.808450931 1.732108219 1.732108219 1 NA NA 1 NA NA 0 4 NA 1 1 5.65E-27 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 42890380 T C - - - - - - 45 0 0 58 19 32.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.06287014 1.03143507 2 2.035894737 1.017947368 2 NA NA 1 NA NA 0 4 NA 1 1 1.50E-29 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 9986699 C A OFCC1 ENST00000485268 r.? - - intronic 45 0 0 62 16 25.8 58 5 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 1.606873006 0.803436503 2 1.064824506 1.064824506 1 NA NA 0 NA NA 0 4 NA 1 1 3.36E-23 1 0.0000115 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 42923459 C T - - - - - - 49 0 0 28 15 53.6 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.139720559 1.069860279 2 1.403508772 1.403508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.07E-27 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 42945068 G T PEX6 CCDS4877.1 r.? - - intronic 30 0 0 32 13 40.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.432758483 1.216379242 2 1.377877251 1.377877251 1 NA NA 1 NA NA 0 4 NA 1 1 3.88E-22 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 42972625 G A PSMA2 CCDS5467.1 r.? - - upstream 40 0 0 76 47 61.8 25 10 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 7.529443193 0.964268491 7.808450931 6.024724241 1.004120707 6 NA NA 1 NA NA 0 4 NA 1 1 5.08E-88 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 43035512 C A - - - - - - 36 0 0 47 20 42.6 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.679215486 1.166284834 2.297222263 0.980245614 0.980245614 1 NA NA 1 NA NA 0 4 NA 1 1 8.18E-34 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 11423702 C A - - - - - - 49 0 0 44 15 34.1 41 9 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.143486479 0.934441892 2.293868134 2.696866141 1.072974982 2.513447365 NA NA 0 NA NA 0 4 NA 1 1 6.12E-24 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 43040817 G C - - - - - - 46 0 0 30 15 50 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.412280702 1.412280702 1 NA NA 1 NA NA 1 4 NA 1 1 4.41E-27 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 43062415 A G - - - - - - 33 0 0 52 17 32.7 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.056580902 1.028290451 2 0.667859649 0.667859649 1 NA NA 1 NA NA 0 4 NA 1 1 1.42E-26 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 43195433 G C CUL9 CCDS4890.1 r.? - - downstream 48 0 0 57 15 26.3 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.5759002 0.7879501 2 2.589994832 1.294997416 2 NA NA 1 NA NA 0 4 NA 1 1 5.53E-22 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 43215121 G T ARFGAP3 CCDS14042.1 r.? - - intronic 27 0 0 26 12 46.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.441641307 0.901947133 2.707078074 3.143105263 1.047701754 3 NA NA 0 NA NA 1 4 NA 1 1 2.21E-21 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 43220034 G A HECW1 CCDS5469.2 r.? - - intronic 21 0 0 92 21 22.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.777852828 0.989104989 2.808450931 2.937053067 0.979017689 3 NA NA 1 NA NA 0 4 NA 1 1 9.72E-29 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 43223247 T A HECW1 CCDS5469.2 r.? - - intronic 33 0 0 91 8 8.8 50 2 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.072153723 1.072153723 1 0.602472424 0.602472424 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000023 1 0.026131524 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 43273092 C G - - - - - - 52 0 0 62 10 16.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.325669352 1.325669352 1 1.853078402 1.853078402 1 NA NA 1 NA NA 0 4 NA 1 1 8.29E-13 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 19920308 G T - - - - - - 55 0 0 61 29 47.5 28 9 32.1 141 0 0 344 115 33.4 210 40 19 3.38E-38 TRUE TRUE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 2.985794949 1.301641931 2.293868134 3.93497287 1.311657623 3 2.09948529 1.049742645 2 2.329111667 0.926660212 2.513447365 4 3 1 1 3.48E-50 5.49E-172 1.24E-14 7.08E-50 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 20 43319795 C T - - - - - - 38 0 0 33 15 45.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 2.726367265 1.363183633 2 3.025385965 1.008461988 3 NA NA 0 NA NA 1 4 NA 1 1 2.91E-26 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 43325106 G A ZNF318 CCDS4895.2 r.1024c>u c.946C>T p.R316* nonsense 55 0 0 57 26 45.6 36 4 11.1 216 0 0 154 51 33.1 139 25 18 8.11E-24 TRUE TRUE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.732359281 1.366179641 2 1.149957705 1.149957705 1 1.983357285 0.991678643 2 1.864796279 0.93239814 2 4 3 1 1 1.57E-44 5.38E-77 0.0000324 4.19E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 11 43341254 C T API5 CCDS44572.1 r.? - - intronic 40 0 0 39 17 43.6 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.176518962 1.088259481 2 2.530929825 1.265464912 2 NA NA 1 NA NA 1 4 NA 1 1 3.51E-29 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 43378396 C T - - - - - - 42 0 0 56 29 51.8 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 3.103864271 1.551932136 2 1.087797829 1.087797829 1 NA NA 1 NA NA 0 4 NA 1 1 1.21E-51 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 43384042 A C - - - - - - 26 0 0 33 13 39.4 29 5 17.2 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.572854291 0.786427146 2 1.50877193 1.50877193 1 0 0 1 NA NA 1 4 NA 1 1 6.37E-22 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 21010461 A G CDKAL1 CCDS4546.1 r.? - - intronic 52 0 0 45 12 26.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.678331055 0.839165528 2 1.887806299 1.887806299 1 NA NA 0 NA NA 0 4 NA 1 1 6.03E-18 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 43508095 G C KIAA1632 CCDS11926.2 r.? - - intronic 34 0 0 32 7 21.9 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.874251497 0.874251497 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.36E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 43520628 G A YWHAB CCDS13339.1 r.? - - intronic 49 0 0 44 8 18.2 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 0.364929825 0.364929825 1 NA NA 0 NA NA 1 4 NA 1 1 5.90E-11 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 43528794 G T PSG11 CCDS12614.2 r.? - - intronic 36 0 0 40 12 30 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.02698962 1.01349481 2 1.736982456 1.736982456 1 NA NA 0 NA NA 1 4 NA 1 1 1.20E-18 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 43542693 C G PSG1 ENST00000449000 r.? - - intronic 52 0 0 43 8 18.6 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.256733565 1.256733565 1 1.098385965 1.098385965 1 NA NA 0 NA NA 1 4 NA 1 1 4.85E-11 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 43600607 G A - - - - - - 46 0 0 39 6 15.4 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.768770459 0.768770459 1 0.361561404 0.361561404 1 NA NA 1 NA NA 1 4 NA 1 1 4.43E-08 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 24224379 G A DCDC2 CCDS4550.1 r.? - - intronic 44 0 0 55 15 27.3 47 11 23.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.71604636 0.85802318 2 2.868484896 0.956161632 3 NA NA 0 NA NA 0 4 NA 1 1 3.01E-22 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 43667583 T C - - - - - - 35 0 0 28 6 21.4 12 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.282291417 1.282291417 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 5.36E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 43668369 G A WDR65 CCDS479.1 r.? - - intronic 21 0 0 39 21 53.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.685704591 1.342852295 2 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.73E-38 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 43763675 T C - - - - - - 38 0 0 43 12 27.9 45 11 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 1.671772455 0.835886228 2 2.872350877 0.957450292 3 NA NA 0 NA NA 1 4 NA 1 1 3.24E-18 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 25335487 G T LRRC16A ENST00000329474 r.? - - intronic 52 0 0 41 5 12.2 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.76687786 0.76687786 1 1.716187544 1.716187544 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000202 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 43855581 T A - - - - - - 63 0 0 25 10 40 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 1.596806387 1 0.315789474 0.315789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.98E-17 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 43860131 G A - - - - - - 22 0 0 45 24 53.3 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.388706614 1.097176654 4 3.484231246 1.499014434 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 2.03E-43 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 43872636 A C CRHR1 CCDS45712.1 r.? - - intronic 36 0 0 27 17 63 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.51497006 1.25748503 2 1.99122807 1.99122807 1 NA NA 1 NA NA 1 4 NA 1 1 6.14E-33 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 27037638 C A - - - - - - 45 0 0 48 5 10.4 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0.653731947 0.653731947 1 0.318720544 0.318720544 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000447 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 30382447 T C - - - - - - 37 0 0 40 12 30 38 11 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 1.885765231 0.942882615 2 3.542701431 1.180900477 3 NA NA 0 NA NA 1 4 NA 1 1 1.20E-18 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 43954415 G A - - - - - - 71 0 0 39 6 15.4 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.768770459 0.768770459 1 0.293157895 0.293157895 1 NA NA 1 NA NA 1 4 NA 1 1 4.43E-08 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 43965099 A C EFCAB6 CCDS14049.1 r.? - - intronic 21 0 0 44 4 9.1 13 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.480929348 0.480929348 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 44011662 C A - - - - - - 51 0 0 36 11 30.6 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.527556886 1.527556886 1 0.322473684 0.322473684 1 NA NA 1 NA NA 1 4 NA 1 1 2.62E-17 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 44030094 A G - - - - - - 49 0 0 39 6 15.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.076770459 1.076770459 1 1.306684211 1.306684211 1 NA NA 1 NA NA 1 4 NA 1 1 4.43E-08 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 44037897 G A - - - - - - 57 0 0 46 18 39.1 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.951878244 0.975939122 2 2.570017544 1.285008772 2 NA NA 1 NA NA 1 4 NA 1 1 9.41E-30 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 44042927 G C XRCC1 CCDS12624.1 r.? - - downstream 50 0 0 38 17 44.7 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 3.020214534 1.0924535 2.7646161 2.184 1.092 2 NA NA 0 NA NA 1 4 NA 1 1 1.99E-29 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 44044374 C A RNF165 CCDS32823.1 r.? - - downstream 54 0 0 31 17 54.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.18762475 1.093812375 2 1.98245614 0.99122807 2 NA NA 1 NA NA 1 4 NA 1 1 1.89E-31 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 44051540 C T ABCG5 CCDS1814.1 r.1076g>a c.936G>A p.K312K silent 58 0 0 65 22 33.8 64 11 17.2 191 0 0 171 57 33.3 98 14 14.3 1.49E-12 TRUE TRUE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.701301397 0.900433799 3 2.19677193 1.098385965 2 2.661341317 0.887113772 3 1.826385965 0.913192982 2 4 3 1 1 2.36E-34 4.76E-86 2.85E-14 1.34E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 9 44118738 G T - - - - - - 20 0 0 40 11 27.5 5 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.647804391 1.647804391 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 9.88E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 44152552 C G WDR76 CCDS10106.1 r.? - - intronic 48 0 0 38 5 13.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.658946108 0.658946108 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 44173644 T A PDE9A CCDS13690.1 r.? - - intronic 32 0 0 29 4 13.8 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 0.73297482 0.73297482 1 0.565052632 0.565052632 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000134 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 44183231 C T - - - - - - 54 0 0 41 8 19.5 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.778443114 0.778443114 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.22E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 44222986 C G SULT4A1 CCDS14051.1 r.? - - intronic 48 0 0 33 18 54.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.880291152 0.960097051 3 2.436789474 0.812263158 3 NA NA 0 NA NA 1 4 NA 1 1 3.68E-33 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 44230883 A G - - - - - - 49 0 0 39 9 23.1 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.615155689 1.615155689 1 2.519192982 0.839730994 3 NA NA 1 NA NA 1 4 NA 1 1 3.62E-13 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 48239631 G T - - - - - - 58 0 0 52 10 19.2 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.150467066 1.150467066 1 0.631958739 0.631958739 1 NA NA 1 NA NA 0 4 NA 1 1 1.28E-13 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 44237071 C T TMEM151B CCDS47437.1 r.? - - upstream 38 0 0 42 20 47.6 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.852199601 1.4260998 2 0.828798346 0.828798346 1 NA NA 1 NA NA 0 4 NA 1 1 4.41E-35 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 44260759 C T - - - - - - 53 0 0 37 5 13.5 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.943922156 0.943922156 1 0.423789474 0.423789474 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000119 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 44299257 A C KCTD8 CCDS3467.1 r.? - - intronic 52 0 0 53 12 22.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.128195609 1.128195609 1 1.524421053 1.524421053 1 NA NA 1 NA NA 1 4 NA 1 1 5.39E-17 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 44322534 G T CAMK2B CCDS5483.1 r.? - - intronic 18 0 0 73 36 49.3 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 6.006497563 1.001082927 6 3.298536522 1.099512174 3 NA NA 1 NA NA 0 4 NA 1 1 1.06E-62 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 44379178 G T - - - - - - 29 0 0 57 5 8.8 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.703297405 0.703297405 1 0.881263158 0.881263158 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000105 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 44486264 T C NUDCD3 CCDS5490.2 r.? - - intronic 26 0 0 94 12 12.8 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.559496325 1.559496325 1 2.696064098 0.994813835 2.710119222 NA NA 0 NA NA 0 4 NA 1 1 7.98E-14 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 44504486 A G - - - - - - 62 0 0 59 12 20.3 53 2 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.216379242 1.216379242 1 0.409333333 0.409333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.20E-16 1 0.029108399 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 44519157 G T ZNF230 CCDS33044.1 r.? - - downstream 44 0 0 34 10 29.4 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.986449828 0.993224914 2 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.15E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 44553367 G T - - - - - - 56 0 0 58 13 22.4 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.342211577 1.342211577 1 0.383319235 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.12E-18 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 49566345 T A - - - - - - 22 0 0 31 5 16.1 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.964714571 0.964714571 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 44649440 C T - - - - - - 22 0 0 58 37 63.8 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 5.253273583 1.313318396 4 2.774069464 1.193482829 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 2.20E-70 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 44682835 G A SLC12A5 CCDS46610.1 r.? - - intronic 49 0 0 49 10 20.4 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.630371257 1.630371257 1 2.354385965 1.177192982 2 NA NA 1 NA NA 0 4 NA 1 1 6.72E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 44683960 T G CASC4 CCDS10108.1 r.? - - intronic 31 0 0 42 26 61.9 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 3.090057884 1.545028942 2 2.385535271 1.040074395 2.293619843 NA NA 0 NA NA 0 4 NA 1 1 2.30E-49 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 44689714 A G DMAP1 CCDS509.1 r.? - - downstream 47 0 0 41 13 31.7 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.582469062 0.791234531 2 2.860578947 0.953526316 3 NA NA 0 NA NA 1 4 NA 1 1 1.89E-20 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 44734613 A G ZNF227 CCDS12636.1 r.? - - intronic 42 0 0 43 9 20.9 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.412136102 1.412136102 1 0.779087719 0.779087719 1 NA NA 0 NA NA 1 4 NA 1 1 9.45E-13 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 44743402 C G C2orf34 CCDS1820.1 r.? - - intronic 38 0 0 80 7 8.8 47 5 10.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.703297405 0.703297405 1 1.353824561 1.353824561 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000018 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 44743896 C T - - - - - - 70 0 0 31 6 19.4 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 57458057 C T PRIM2 ENST00000425433 r.? - - intronic 145 0 0 135 17 12.6 89 5 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.754994012 0.754994012 1 0.580158842 0.580158842 1 NA NA 1 NA NA 0 4 NA 1 1 7.05E-19 1 0.0000915 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 44862790 C T SPG11 CCDS10112.1 r.6427g>a c.6410G>A p.R2137Q missense 22 0 0 37 12 32.4 17 3 17.6 259 0 0 70 23 32.9 64 13 20.3 8.17E-14 TRUE TRUE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.617413174 0.808706587 2 1.771536741 1.771536741 1 1.642373253 0.821186627 2 2.043306582 1.021653291 2 4 3 1 1 4.03E-19 1.70E-35 0.0000807 1.26E-17 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 12 44888661 C T - - - - - - 24 0 0 50 13 26 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.297924152 1.297924152 1 1.114 1.114 1 NA NA 1 NA NA 1 4 NA 1 1 3.65E-19 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 44916413 C T - - - - - - 51 0 0 47 15 31.9 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.006266996 1.003133498 2 0.743263158 0.743263158 1 NA NA 1 NA NA 0 4 NA 1 1 1.97E-23 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 44927606 C T TGM4 CCDS2723.1 r.? - - intronic 40 0 0 36 7 19.4 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.356451098 1.356451098 1 1.306684211 1.306684211 1 NA NA 1 NA NA 1 4 NA 1 1 5.74E-10 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 44938382 A G C2orf34 CCDS1820.1 r.? - - intronic 55 0 0 58 8 13.8 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.102898204 1.102898204 1 2.081824561 1.040912281 2 NA NA 1 NA NA 1 4 NA 1 1 5.99E-10 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 44938518 C G WNT9B CCDS11506.1 r.? - - intronic 24 0 0 35 6 17.1 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.682634731 0.682634731 1 0.438596491 0.438596491 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-08 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 57938305 C A - - - - - - 57 0 0 57 9 15.8 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.946738523 0.946738523 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.42E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 62007923 C T - - - - - - 51 0 0 50 5 10 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.599201597 0.599201597 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 44991782 T C ZNF180 CCDS12639.1 r.? - - intronic 30 0 0 42 20 47.6 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 3.216156864 1.163328559 2.7646161 3.065263158 1.021754386 3 NA NA 0 NA NA 1 4 NA 1 1 4.41E-35 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 44997888 G C MYO1G CCDS34629.1 r.? - - downstream 32 0 0 132 19 14.4 51 4 7.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.754433365 0.970130478 1.808450931 1.174821227 1.174821227 1 NA NA 0 NA NA 0 4 NA 1 1 4.59E-22 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 45061579 T G CXorf36 CCDS48096.1 r.? - - upstream 46 0 0 61 9 14.8 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.218627728 1.218627728 1 1.70882679 1.70882679 1 NA NA 1 NA NA 0 4 NA 1 1 2.68E-11 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 63619202 G A - - - - - - 47 0 0 25 19 76 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 3.033932136 1.516966068 2 2.456140351 1.228070175 2 NA NA 1 NA NA 1 4 NA 1 1 3.28E-39 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 45113038 A C - - - - - - 53 0 0 61 12 19.7 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.622092313 1.622092313 1 0.343984613 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.39E-16 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65535962 G A EYS CCDS47445.1 r.? - - intronic 45 0 0 32 19 59.4 31 11 35.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.371257485 1.185628743 2 3.114035088 1.557017544 2 NA NA 1 NA NA 1 4 NA 1 1 6.23E-36 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 45195740 T A C1orf228 ENST00000458657 r.? - - downstream 27 0 0 64 8 12.5 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.392427913 5 5 3 1 2 0.607572087 1 5 NA 2 NA 0.392427913 NA 1.048055485 1.048055485 1 0.977070175 0.977070175 1 NA NA 0 NA NA 0 4 NA 1 1 1.35E-09 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 45195741 C A C1orf228 ENST00000458657 r.? - - downstream 28 0 0 65 7 10.8 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.392427913 5 5 3 1 2 0.607572087 1 5 NA 2 NA 0.392427913 NA 0.905519939 0.905519939 1 0.953526316 0.953526316 1 NA NA 0 NA NA 0 4 NA 1 1 4.22E-08 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 45195967 G C - - - - - - 53 0 0 30 19 63.3 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.526946108 1.263473054 2 2.245614035 1.122807018 2 NA NA 1 NA NA 1 4 NA 1 1 9.89E-37 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65961796 C A EYS CCDS47445.1 r.? - - intronic 42 0 0 34 10 29.4 34 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.173652695 1.173652695 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 1.15E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 45235359 G A CDC27 CCDS45720.1 r.? - - intronic 54 0 0 19 12 63.2 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.522954092 1.261477046 2 1.649122807 1.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.19E-23 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 67357726 G T - - - - - - 43 0 0 27 5 18.5 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.738522954 0.738522954 1 0.377192982 0.377192982 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000023 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 45332520 A T - - - - - - 51 0 0 83 25 30.1 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.405596806 0.801865602 3 1.698666667 1.698666667 1 NA NA 1 NA NA 1 4 NA 1 1 2.44E-37 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 45350928 G C PVRL2 CCDS42576.1 r.? - - intronic 13 0 0 32 6 18.8 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.270246829 1.270246829 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.27E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 45383221 G C ITGB3 CCDS11511.1 r.? - - intronic 55 0 0 28 4 14.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.570858283 0.570858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 73673861 C G KCNQ5 CCDS4976.1 r.? - - intronic 54 0 0 32 15 46.9 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.872255489 0.936127745 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.59E-26 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 77805758 T G - - - - - - 39 0 0 39 17 43.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.740518962 0.870259481 2 1.98245614 0.99122807 2 NA NA 1 NA NA 1 4 NA 1 1 3.51E-29 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 45461923 A G - - - - - - 42 0 0 43 20 46.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.321287425 1.160643713 2 1.543964912 1.543964912 1 NA NA 1 NA NA 1 4 NA 1 1 8.21E-35 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 45486221 A G - - - - - - 43 0 0 48 10 20.8 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.038339321 1.038339321 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.37E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 45498484 C T - - - - - - 34 0 0 46 21 45.7 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.738351297 1.369175649 2 2.876105263 1.438052632 2 NA NA 1 NA NA 1 4 NA 1 1 2.94E-36 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 45542955 T C - - - - - - 38 0 0 30 4 13.3 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.663938124 0.663938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 45589363 C T PRPF39 CCDS9682.2 r.? - - downstream 42 0 0 29 5 17.2 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.686626747 0.686626747 1 0.263157895 0.263157895 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000336 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 45590095 C G - - - - - - 41 0 0 43 5 11.6 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.695073852 0.695073852 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 45614033 C T - - - - - - 37 0 0 45 16 35.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.777157685 0.888578842 2 2.385535271 1.040074395 2.293619843 NA NA 1 NA NA 1 4 NA 1 1 8.61E-26 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 45647065 C T - - - - - - 17 0 0 9 6 66.7 5 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.996674651 1.332224884 3 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.30E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 45656046 T A EYA2 CCDS13403.1 r.? - - intronic 55 0 0 53 22 41.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.316686627 1.105562209 3 1.812877193 1.812877193 1 NA NA 1 NA NA 0 4 NA 1 1 9.50E-37 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 45677250 G T - - - - - - 27 0 0 52 24 46.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 3.804094664 1.012253667 3.758044835 1.34264962 1.34264962 1 NA NA 1 NA NA 0 4 NA 1 1 2.22E-41 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 45684919 T G EYA2 CCDS13403.1 r.? - - intronic 30 0 0 33 11 33.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 1.424403509 1.424403509 1 NA NA 1 NA NA 0 4 NA 1 1 8.54E-18 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 45722548 G T EYA2 CCDS13403.1 r.? - - intronic 28 0 0 49 10 20.4 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.630371257 1.630371257 1 0.588596491 0.588596491 1 NA NA 1 NA NA 0 4 NA 1 1 6.72E-14 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 45739007 G A SMC1B CCDS43027.1 r.? - - downstream 28 0 0 30 16 53.3 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.816871897 1.040558056 2.707078074 1.600982456 1.600982456 1 NA NA 0 NA NA 1 4 NA 1 1 2.08E-29 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 45749713 C A ANO6 CCDS31782.1 r.? - - intronic 31 0 0 51 15 29.4 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.467652695 1.467652695 1 2.697052632 1.348526316 2 NA NA 1 NA NA 1 4 NA 1 1 8.22E-23 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 85117801 G A - - - - - - 36 0 0 38 7 18.4 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.734530938 0.734530938 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 85523999 C T - - - - - - 40 0 0 29 5 17.2 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.686626747 0.686626747 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000336 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 90761419 G A BACH2 CCDS5026.1 r.? - - intronic 56 0 0 55 24 43.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.740518962 0.870259481 2 2.061403509 1.030701754 2 NA NA 1 NA NA 1 4 NA 1 1 1.28E-40 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 45866927 C T CLIC5 CCDS47438.1 r.? - - downstream 46 0 0 43 7 16.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.976698603 0.976698603 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.15E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 45880766 A C - - - - - - 37 0 0 36 18 50 40 7 17.5 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.535087719 1.535087719 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-32 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 45897747 C G ZMYND8 CCDS46613.1 r.? - - intronic 22 0 0 42 16 38.1 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.044958084 1.014986028 3 1.965912281 1.965912281 1 NA NA 1 NA NA 0 4 NA 1 1 2.25E-26 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 45919393 G A CLIC5 CCDS47438.1 r.? - - intronic 38 0 0 31 9 29 36 4 11.1 239 1 0.4 301 58 19.3 203 11 5.4 7.92E-06 TRUE TRUE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.737684631 1.737684631 1 1.149957705 1.149957705 1 1.156459082 1.156459082 1 0.559438884 0.95134658 0.588049503 4 3 1 0.698202041 3.57E-14 7.12E-72 0.0000324 9.30E-09 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 45957165 A C TESK2 CCDS41323.1 r.? - - upstream 24 0 0 30 8 26.7 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.332868263 1.332868263 1 1.883508772 1.883508772 1 NA NA 0 NA NA 1 4 NA 1 1 2.07E-12 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 45963306 G A - - - - - - 45 1 2.2 41 15 36.6 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.827077844 0.913538922 2 1.583052632 1.583052632 1 NA NA 1 NA NA 1 4 NA 0.201934322 1 1.71E-24 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 45970110 T C - - - - - - 50 0 0 98 26 26.5 63 12 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 3.228644735 1.076214912 3 2.861744014 0.953914671 3 NA NA 0 NA NA 0 4 NA 1 1 4.02E-37 1 5.15E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 46049276 T A PRKCE CCDS1824.1 r.? - - intronic 28 0 0 80 10 12.5 41 0 0 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.999001996 0.999001996 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 1.17E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 98655925 G T - - - - - - 43 0 0 27 12 44.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-21 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 107322267 C T BBX CCDS2950.1 r.? - - intronic 46 0 0 53 11 20.8 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.111998944 1.111998944 1 0.600368421 0.600368421 1 NA NA 0 NA NA 1 4 NA 1 1 3.07E-15 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 46151325 T A - - - - - - 53 0 0 61 16 26.2 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.569908184 0.784954092 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.50E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 46161044 C T ATXN10 CCDS14070.1 r.? - - intronic 50 0 0 34 6 17.6 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 0.930149069 0.930149069 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 46168971 G C - - - - - - 33 0 0 53 5 9.4 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.773993287 0.773993287 1 1.18730173 1.18730173 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000734 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 46173837 C T - - - - - - 37 0 0 44 13 29.5 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.767644711 0.883822355 2 1.294997416 1.294997416 1 NA NA 1 NA NA 0 4 NA 1 1 5.49E-20 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 46177252 G A - - - - - - 50 0 0 40 5 12.5 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.624001996 0.624001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 46200964 C T - - - - - - 31 0 0 109 20 18.3 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.229592402 1.114796201 2 2.861744014 0.953914671 3 NA NA 1 NA NA 0 4 NA 1 1 2.24E-25 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 46258107 G A RCAN2 CCDS43469.1 r.? - - intronic 54 0 0 53 9 17 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.018642715 1.018642715 1 0.269359463 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.10E-12 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 100737854 A T - - - - - - 69 0 0 36 18 50 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.815789474 1.815789474 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-32 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 46277456 G A PRKCE CCDS1824.1 r.? - - intronic 40 0 0 63 31 49.2 35 12 34.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 3.932071856 0.983017964 4 4.38077193 1.095192982 4 NA NA 1 NA NA 1 4 NA 1 1 3.65E-54 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 46277813 C T NCOA3 CCDS13407.1 r.3802c>u c.3611C>T p.A1204V missense 34 0 0 47 8 17 32 0 0 210 0 0 158 24 15.2 215 14 6.5 5.14E-08 FALSE TRUE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.358642715 1.358642715 1 0 NA 0 1.214786427 1.214786427 1 0.765175439 0.765175439 1 NA 3 1 1 1.03E-10 4.69E-28 1 8.02E-12 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 3 130852416 C T NEK11 CCDS3069.1 r.? - - intronic 50 0 0 41 13 31.7 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.693853814 1.027432058 1.648628541 1.907052632 1.907052632 1 NA NA 0 NA NA 1 4 NA 1 1 1.89E-20 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 46370258 A T PRKCE CCDS1824.1 r.? - - intronic 52 0 0 68 5 7.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.591409182 0.591409182 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000251 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 46381169 G T - - - - - - 56 0 0 97 10 10.3 53 6 11.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.254907199 1.254907199 1 1.701984598 1.701984598 1 NA NA 1 NA NA 0 4 NA 1 1 8.27E-11 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 103670556 C A - - - - - - 43 0 0 41 7 17.1 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.682634731 0.682634731 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.51E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 46403433 C A - - - - - - 48 0 0 42 8 19 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.948483034 0.948483034 1 0.362359788 0.362359788 1 NA NA 0 NA NA 1 4 NA 1 1 3.96E-11 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 46428415 A G AMBRA1 CCDS31475.1 r.? - - intronic 30 0 0 31 6 19.4 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 0.517912281 0.517912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-08 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 46453757 T A MAST2 CCDS41326.1 r.? - - intronic 52 0 0 41 10 24.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 2.224894737 1.112447368 2 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 46464124 G T AMBRA1 CCDS31475.1 r.? - - intronic 38 0 0 27 9 33.3 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 1.662341317 1 1.270350877 1.270350877 1 NA NA 1 NA NA 1 4 NA 1 1 8.44E-15 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 46556123 C A - - - - - - 44 0 0 61 7 11.5 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574081836 0.574081836 1 0.273614035 0.273614035 1 NA NA 1 NA NA 1 4 NA 1 1 2.69E-08 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 46583929 C A ANKRD26P1 ENST00000329373 r.? - - intronic 48 0 0 111 6 5.4 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9.313373224 5.626372055 7 3 2 2 0.686626776 0.373627945 7 3 3 3 0.313373224 0.626372055 0.610491016 0.610491016 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000226 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 122571722 G A - - - - - - 65 0 0 23 14 60.9 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.431137725 1.215568862 2 2.543859649 1.271929825 2 NA NA 1 NA NA 1 4 NA 1 1 4.78E-27 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 46650388 G A SLC38A1 CCDS41774.1 r.? - - intronic 28 0 0 39 17 43.6 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.176518962 1.088259481 2 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 3.51E-29 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 46722142 A G - - - - - - 58 0 0 35 7 20 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.153087719 1.153087719 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 46737366 C A - - - - - - 48 0 0 45 12 26.7 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.065868263 1.065868263 1 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 6.03E-18 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 46744500 T C - - - - - - 17 0 0 18 10 55.6 9 3 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 2.953144928 0.984381643 3 3.920052632 0.980013158 4 NA NA 0 NA NA 1 4 NA 1 1 4.12E-19 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 132436447 G A - - - - - - 47 0 0 30 7 23.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.930139721 0.930139721 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-10 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 46786792 G A - - - - - - 34 0 0 40 19 47.5 37 5 13.5 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.896207585 0.948103792 2 1.184210526 1.184210526 1 0 0 1 NA NA 1 4 NA 1 1 2.27E-33 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 46790060 A T PRSS46 CCDS2745.1 r.? - - intronic 32 0 0 39 14 35.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.510133733 0.836711244 3 2.613368421 0.871122807 3 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 46837562 C A - - - - - - 20 0 0 24 5 20.8 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.038339321 1.038339321 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 46882094 G A PHF16 CCDS14271.1 r.? - - intronic 45 0 0 57 8 14 43 2 4.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.152755959 1.152755959 1 0.521525059 0.521525059 1 NA NA 1 NA NA 0 4 NA 1 1 5.19E-10 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 46948805 C T DYM CCDS11937.1 r.? - - intronic 54 0 0 25 9 36 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 2.754385965 1.377192982 2 NA NA 1 NA NA 1 4 NA 1 1 3.71E-15 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 46965029 G A SYT15 CCDS44376.1 r.983c>u c.916C>T p.R306W missense 28 0 0 132 21 15.9 48 4 8.3 337 0 0 72 17 23.6 43 1 2.3 0.350897372 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.999988879 0.999988879 1 0.894070175 0.894070175 1 1.484260223 1.484260223 1 0.247754386 NA 0 4 NA 1 1 3.48E-25 7.97E-24 0.000102016 0.193893409 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9852b 6 140129698 T A - - - - - - 27 0 0 24 4 16.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.666666667 0.666666667 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000613 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 46976294 T C SOCS5 CCDS1830.1 r.? - - intronic 55 0 0 69 8 11.6 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.927073852 0.927073852 1 1.915789474 1.915789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.49E-09 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 47000554 G T - - - - - - 61 0 0 98 14 14.3 54 2 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.7422498 0.96339346 1.808450931 0.557286992 0.557286992 1 NA NA 1 NA NA 0 4 NA 1 1 1.34E-16 1 0.030129377 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 47005210 A C - - - - - - 37 0 0 71 10 14.1 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.126874251 1.126874251 1 1.008982456 1.008982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.42E-12 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 47075744 C G C11orf49 CCDS41641.1 r.? - - intronic 26 0 0 36 16 44.4 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.21645509 1.108227545 2 1.954385965 1.954385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-27 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 47078045 T C CDK16 CCDS48101.1 r.518u>c c.? p.? 5'UTR variant 10 0 0 43 5 11.6 13 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.955140651 0.955140651 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 47081482 C G IGF2BP1 CCDS11543.1 r.? - - intronic 16 0 0 21 9 42.9 5 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 1.71257485 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 5.44E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 47081516 G C ENSG00000239332 ENST00000422294 r.? - - intronic 36 0 0 86 53 61.6 50 13 26 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.923081836 1.230770459 4 3.320701754 1.106900585 3 NA NA 1 NA NA 1 4 NA 1 1 6.16E-99 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 47081834 C T ENSG00000239332 ENST00000422294 r.? - - intronic 27 0 0 71 20 28.2 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.253748503 1.126874251 2 1.826385965 1.826385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.68E-29 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 47116639 C T - - - - - - 47 0 0 49 20 40.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 3.359460222 0.893938303 3.758044835 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.35E-33 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 47126579 C A CERK CCDS14077.1 r.? - - intronic 43 0 0 33 13 39.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.08226553 1.041132765 2 2.448561404 0.816187135 3 NA NA 0 NA NA 1 4 NA 1 1 6.37E-22 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 140283215 A G - - - - - - 52 0 0 36 5 13.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.55489022 0.55489022 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 47139574 C G - - - - - - 46 0 0 46 4 8.7 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.521305389 0.521305389 1 0.445479111 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000862 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 47166963 G T TTC7A CCDS33193.1 r.? - - upstream 32 0 0 76 9 11.8 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.943057884 0.943057884 1 1.392140351 1.392140351 1 NA NA 1 NA NA 1 4 NA 1 1 2.06E-10 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 47174955 T C SLC38A4 CCDS8750.1 r.? - - intronic 56 0 0 42 16 38.1 35 12 34.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.901958084 0.950979042 2 3.35177193 1.675885965 2 NA NA 1 NA NA 1 4 NA 1 1 2.25E-26 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 47208442 G T GABRB1 CCDS3474.1 r.? - - intronic 58 0 0 40 9 22.5 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.123203593 1.123203593 1 0.332245614 0.332245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.64E-13 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 47214977 G C LRCH1 CCDS31972.1 r.? - - intronic 42 0 0 52 10 19.2 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.150467066 1.150467066 1 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.28E-13 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 47232344 A G LRCH1 CCDS31972.1 r.? - - intronic 45 0 0 49 6 12.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 144033196 C A PHACTR2 CCDS47493.1 r.289c>a c.90C>A p.P30P silent 53 0 0 32 16 50 33 10 30.3 197 3 1.5 255 98 38.4 277 45 16.2 1.59E-39 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.657894737 1.328947368 2 1.532934132 0.766467066 2 1.421052632 0.710526316 2 4 3 1 0.077101309 8.51E-29 4.39E-154 8.14E-16 1.42E-52 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 22 47287746 C T TBC1D22A CCDS14078.1 r.? - - intronic 35 0 0 20 8 40 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.113975157 1.056987579 2 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 4.66E-14 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 47313527 C T C2orf61 ENST00000445927 r.? - - intronic 22 0 0 58 12 20.7 40 2 5 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.654347305 0.827173653 2 0.638596491 0.638596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.76E-16 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 47321079 G C GABRB1 CCDS3474.1 r.? - - intronic 49 0 0 40 8 20 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.488596491 0.488596491 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 47329551 T G GABRB1 CCDS3474.1 r.? - - intronic 41 0 0 33 14 42.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.11661477 1.058307385 2 1.895754386 1.895754386 1 NA NA 1 NA NA 1 4 NA 1 1 4.57E-24 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 47395253 G A PREX1 CCDS13410.1 r.? - - intronic 31 0 0 49 8 16.3 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.302698603 1.302698603 1 1.895280702 1.895280702 1 NA NA 1 NA NA 0 4 NA 1 1 1.47E-10 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 47426904 G T COL6A1 CCDS13727.1 r.? - - downstream 20 0 0 30 4 13.3 13 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 0.706417762 0.706417762 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 47432888 A G - - - - - - 50 0 0 37 18 48.6 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.42611976 1.21305988 2 2.613368421 0.871122807 3 NA NA 0 NA NA 1 4 NA 1 1 6.16E-32 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 46080637 A T GABRG1 CCDS3470.1 r.? - - intronic 55 0 0 38 5 13.2 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.658946108 0.658946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 46335259 A T GABRA2 CCDS3471.1 r.? - - intronic 50 0 0 40 5 12.5 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.624001996 0.624001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 47547549 G A TNS3 CCDS5506.2 r.? - - intronic 27 0 0 81 38 46.9 40 11 27.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 5.714092002 0.983754889 5.808450931 4.141997916 1.035499479 4 NA NA 0 NA NA 0 4 NA 1 1 5.41E-65 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 47579718 T C - - - - - - 51 0 0 47 14 29.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 3.457789474 1.728894737 2 NA NA 1 NA NA 1 4 NA 1 1 1.79E-21 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 47608698 G A - - - - - - 48 0 0 41 9 22 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.318243513 1.318243513 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-13 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 47609584 A G ZC3H4 CCDS42582.1 r.? - - intronic 39 0 0 40 9 22.5 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.520242215 1.520242215 1 1.111157895 1.111157895 1 NA NA 0 NA NA 1 4 NA 1 1 4.64E-13 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 151121318 C A PLEKHG1 CCDS34552.1 r.? - - intronic 50 0 0 44 10 22.7 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.906187625 0.906187625 1 0.377192982 0.377192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-14 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 47696896 C T TAL1 CCDS547.1 r.? - - upstream 12 0 0 20 6 30 11 3 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.49760479 1.49760479 1 3.213736842 1.071245614 3 NA NA 0 NA NA 1 4 NA 1 1 5.70E-10 1 0.00002 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 47734063 T A CORIN CCDS3477.1 r.? - - intronic 46 0 0 31 7 22.6 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.128195609 1.128195609 1 1.260578947 1.260578947 1 NA NA 1 NA NA 1 4 NA 1 1 1.85E-10 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 47804071 C G - - - - - - 54 0 0 27 15 55.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.663560878 1.663560878 1 0.347538079 0.347538079 1 NA NA 0 NA NA 0 4 NA 1 1 5.01E-28 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 47825610 G A NUP160 CCDS31484.1 r.? - - intronic 30 0 0 35 14 40 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.996806387 0.998403194 2 1.807807018 1.807807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.28E-23 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 47889535 G T - - - - - - 28 0 0 19 5 26.3 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.3129002 1.3129002 1 0.850157895 0.850157895 1 NA NA 1 NA NA 1 4 NA 1 1 3.43E-08 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 47940088 G A MDGA2 CCDS45098.1 r.? - - intronic 58 0 0 19 6 31.6 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.261477046 1.261477046 1 1.622807018 1.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 4.01E-10 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 170662909 G A FAM120B CCDS5314.1 r.? - - intronic 47 0 0 30 15 50 35 14 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.50877193 1.754385965 2 NA NA 1 NA NA 1 4 NA 1 1 4.41E-27 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 48028192 T G MAP4 CCDS46818.1 r.? - - intronic 29 0 0 48 12 25 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.748003992 0.874001996 2 2.801719298 0.933906433 3 NA NA 1 NA NA 1 4 NA 1 1 1.44E-17 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 48036295 A G NIPAL1 CCDS3479.1 r.? - - intronic 61 0 0 48 10 20.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.038339321 1.038339321 1 1.749175439 1.749175439 1 NA NA 1 NA NA 1 4 NA 1 1 5.37E-14 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 48067746 G C DLX3 CCDS11556.1 r.2225c>g c.? p.? 3'UTR variant 44 0 0 37 17 45.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.832335329 0.916167665 2 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.10E-29 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 48077166 A G - - - - - - 49 0 0 38 7 18.4 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.102530938 1.102530938 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 48078157 G T - - - - - - 30 0 0 35 13 37.1 18 7 38.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.481037924 1.481037924 1 3.412280702 1.706140351 2 NA NA 1 NA NA 1 4 NA 1 1 1.63E-21 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 48102603 G C MAP4 CCDS46818.1 r.? - - intronic 14 0 0 29 5 17.2 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.202626747 1.202626747 1 1.177192982 1.177192982 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000336 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 48151773 C G - - - - - - 36 0 0 48 6 12.5 23 6 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 2.811473684 1.405736842 2 NA NA 1 NA NA 1 4 NA 1 1 0.00000016 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 48171571 G A - - - - - - 47 0 0 29 10 34.5 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 1439363 A G - - - - - - 17 0 0 45 25 55.6 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.999560878 1.24989022 4 2.647737626 1.171404495 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 8.58E-46 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 2958554 C A CARD11 CCDS5336.2 r.? - - intronic 22 0 0 52 24 46.2 16 3 18.8 304 0 0 57 16 28.1 31 7 22.6 2.13E-08 TRUE TRUE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.154311377 1.038577844 4 2.07406114 2.07406114 1 2.526756487 0.842252162 3 2.493286264 1.103072566 2.260310284 4 3 1 1 2.22E-41 7.28E-24 0.0000667 1.85E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 6 48253476 C A - - - - - - 48 0 0 48 12 25 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.498003992 1.498003992 1 0.248639504 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.44E-17 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 48285752 G C - - - - - - 63 0 0 30 16 53.3 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.127744511 1.063872255 2 1.385964912 1.385964912 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-29 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 48287572 G A - - - - - - 50 0 0 51 19 37.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.235021956 1.117510978 2 2.330995349 1.165497674 2 NA NA 1 NA NA 0 4 NA 1 1 7.94E-31 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 48287982 G C - - - - - - 29 0 0 53 8 15.1 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.753794411 0.753794411 1 0.775047324 0.775047324 1 NA NA 1 NA NA 0 4 NA 1 1 2.83E-10 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 48300293 C T - - - - - - 40 0 0 48 21 43.8 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.186502994 1.093251497 2 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 9.35E-36 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 48304867 T G - - - - - - 56 0 0 36 4 11.1 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.443113772 0.443113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 48429012 C T GDF10 CCDS7220.1 r.1140g>a c.874G>A p.A292T missense 15 0 0 37 7 18.9 14 1 7.1 42 0 0 9 0 0 9 0 0 1 TRUE TRUE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.188666026 1.188666026 1 0.764807018 0.764807018 1 0 0 1 0 0 1 4 NA 1 1 7.05E-10 1 0.067769881 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 48451754 G C - - - - - - 25 0 0 49 5 10.2 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.6415023 0.6415023 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 48453299 T G ME2 CCDS11948.1 r.? - - intronic 49 0 0 38 22 57.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.311377246 1.155688623 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 4.91E-41 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 6509089 T C KDELR2 CCDS5351.1 r.? - - intronic 26 0 0 60 29 48.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.343143713 1.085785928 4 2.0078677 2.0078677 1 NA NA 1 NA NA 0 4 NA 1 1 1.83E-50 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 48484979 T A - - - - - - 55 0 0 54 7 13 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.778962076 0.778962076 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 8075303 T C GLCCI1 CCDS34601.1 r.? - - intronic 49 0 0 60 8 13.3 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.195938124 1.195938124 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.93E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 59898636 C A - - - - - - 63 0 0 50 10 20 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.36E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 48515052 G T - - - - - - 54 0 0 52 8 15.4 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.922770459 0.922770459 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.42E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 48517792 C T - - - - - - 14 0 0 24 11 45.8 6 1 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 3.771158779 1.003489566 3.758044835 1.853078402 1.853078402 1 NA NA 0 NA NA 0 4 NA 1 1 1.15E-19 1 0.029627491 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48523755 T A ABCA13 CCDS47584.1 r.? - - intronic 50 0 0 82 10 12.2 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.486394935 1.486394935 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.51E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 48619749 C A - - - - - - 39 0 0 49 13 26.5 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.057884232 1.057884232 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 2.71E-19 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 48625997 G C FRYL CCDS43227.1 r.? - - intronic 65 0 0 47 7 14.9 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.743810379 0.743810379 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-09 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 48649573 A G - - - - - - 40 0 0 46 6 13 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.648962076 0.648962076 1 0.503277483 0.503277483 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000123 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 48676733 T A - - - - - - 45 0 0 47 15 31.9 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.592453094 0.796226547 2 0.312701754 0.312701754 1 NA NA 1 NA NA 1 4 NA 1 1 1.97E-23 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48685930 T G ABCA13 CCDS47584.1 r.16023u>g c.? p.? 3'UTR variant 24 0 0 76 17 22.4 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.729118568 0.97175227 2.808450931 0.406668886 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.21E-23 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 48711579 G T - - - - - - 55 0 0 53 12 22.6 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.354195609 1.354195609 1 1.23283754 1.23283754 1 NA NA 1 NA NA 0 4 NA 1 1 5.39E-17 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 48765342 G A FRYL CCDS43227.1 r.? - - intronic 40 0 0 33 5 15.2 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.758786427 0.758786427 1 1.328982456 1.328982456 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000066 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48767150 C T - - - - - - 60 0 0 94 31 33 59 9 15.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 4.020576462 1.005144116 4 2.304457022 0.850315736 2.710119222 NA NA 0 NA NA 0 4 NA 1 1 2.29E-47 1 1.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48784118 G A - - - - - - 41 0 0 89 6 6.7 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.816298857 0.816298857 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000637 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 48811570 C T OTUD5 CCDS14313.1 r.? - - intronic 46 0 0 51 9 17.6 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 1.449178919 1.449178919 1 1.309360787 1.309360787 1 NA NA 0 NA NA 0 4 NA 1 1 4.92E-12 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 48827611 A G - - - - - - 62 0 0 36 18 50 36 10 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.438596491 1.219298246 2 NA NA 1 NA NA 1 4 NA 1 1 3.18E-32 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48845989 G C - - - - - - 50 0 0 88 16 18.2 47 14 29.8 50 0 0 265 34 12.8 184 18 9.8 7.99E-13 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.217408837 1.108704418 2 4.488419559 0.952931199 4.710119222 1.559496325 0.862338202 1.808450931 1.476057439 1.476057439 1 4 3 1 1 1.57E-20 1.72E-36 1.79E-21 6.71E-18 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 48846310 G T - - - - - - 55 0 0 90 18 20 47 3 6.4 6 0 0 15 6 40 7 1 14.3 0.067934652 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.436713007 0.867635956 2.808450931 0.963955879 0.963955879 1 4.873426015 1.013512685 4.808450931 2.153838916 2.153838916 1 4 3 1 1 1.03E-23 7.52E-11 0.001719595 0.034479353 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48846550 G A - - - - - - 43 0 0 87 18 20.7 41 6 14.6 246 0 0 513 68 13.3 343 35 10.2 4.32E-24 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.521997963 0.898003214 2.808450931 2.199024348 1.099512174 2 1.62041415 0.896023288 1.808450931 1.536304681 0.898361156 1.710119222 4 3 1 1 5.29E-24 2.82E-72 6.05E-08 5.67E-34 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 48846553 G A - - - - - - 41 0 0 88 18 20.5 43 6 14 251 0 0 518 70 13.5 343 32 9.3 5.58E-21 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.497630833 0.889326855 2.808450931 2.108653484 2.108653484 1 1.64478128 0.909497323 1.808450931 1.400748386 0.819093995 1.710119222 4 3 1 1 6.62E-24 5.88E-75 8.13E-08 5.92E-30 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 48846699 G A - - - - - - 54 0 0 97 20 20.6 35 0 0 143 1 0.7 246 16 6.5 113 8 7.1 2.02E-05 FALSE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.509814398 0.893665034 2.808450931 0 NA 0 0.791931727 0.791931727 1 1.069388553 1.069388553 1 NA 3 1 0.511684459 1.80E-26 2.70E-13 1 0.000000125 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 7 48846896 G A - - - - - - 45 0 0 93 12 12.9 53 13 24.5 13 0 0 80 12 15 24 3 12.5 0.001729427 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.57167989 1.57167989 1 3.690143598 0.994615908 3.710119222 1.827534756 1.010552581 1.808450931 1.882726325 1.882726325 1 4 3 1 1 6.99E-14 1.07E-14 8.53E-19 0.000233853 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48846947 G A - - - - - - 46 0 0 75 8 10.7 55 7 12.7 52 0 0 198 33 16.7 101 14 13.9 2.27E-12 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.303641459 1.303641459 1 1.912849946 1.912849946 1 2.034655361 1.017327681 2 2.093591674 1.046795837 2 4 3 1 1 4.89E-09 2.20E-39 1.28E-08 2.08E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 48847095 G A - - - - - - 37 0 0 86 16 18.6 37 2 5.4 139 0 0 557 78 14 309 26 8.4 3.00E-16 TRUE TRUE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.266143097 1.133071548 2 0.813337773 0.813337773 1 1.705699105 0.943182409 1.808450931 1.265192091 1.265192091 1 4 3 1 1 1.06E-20 1.43E-84 0.014826063 1.75E-23 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 48848800 T G STON1-GTF2A1L CCDS1840.1 r.? - - intronic 64 0 0 43 8 18.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.48651497 1.48651497 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 71483658 G T - - - - - - 49 0 0 35 14 40 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.996806387 0.998403194 2 1.008473101 1.008473101 1 NA NA 1 NA NA 0 4 NA 1 1 1.28E-23 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 48889057 A G - - - - - - 35 0 0 46 18 39.1 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.124878244 1.041626081 3 1.965912281 1.965912281 1 NA NA 1 NA NA 0 4 NA 1 1 9.41E-30 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 48903556 C A - - - - - - 28 0 0 37 11 29.7 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.373628743 1.186814371 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.70E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 48903557 A G - - - - - - 30 0 0 38 11 28.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.309692615 1.154846307 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.19E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 48905245 A C SLC25A20 CCDS2779.1 r.? - - intronic 14 0 0 26 7 26.9 16 4 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.880852295 1.880852295 1 2.942982456 0.980994152 3 NA NA 1 NA NA 1 4 NA 1 1 4.73E-11 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 8083937 A G GLCCI1 CCDS34601.1 r.? - - intronic 39 0 0 61 31 50.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.567944112 1.141986028 4 3.01180155 1.332472613 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 9.37E-55 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 48928075 G A - - - - - - 43 0 0 78 19 24.4 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.972789869 0.990929956 3 2.108653484 2.108653484 1 NA NA 1 NA NA 0 4 NA 1 1 9.67E-27 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 48993112 T C - - - - - - 35 0 0 45 18 40 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.996806387 0.998403194 2 2.354385965 2.354385965 1 NA NA 0 NA NA 1 4 NA 1 1 5.76E-30 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 9972389 G A - - - - - - 28 0 0 39 8 20.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.843363273 1.843363273 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.09E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 86444494 G A ARHGAP24 CCDS34025.1 r.? - - intronic 45 0 0 27 10 37 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.847045908 0.923522954 2 1.335545458 1.335545458 1 NA NA 1 NA NA 0 4 NA 1 1 7.62E-17 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 10074586 G T - - - - - - 62 0 0 51 15 29.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.643652695 0.881217565 3 1.379030014 1.379030014 1 NA NA 1 NA NA 0 4 NA 1 1 8.22E-23 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 10231567 C G - - - - - - 48 0 0 73 5 6.8 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.611457086 0.611457086 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000354 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 13269717 T C - - - - - - 49 0 0 54 26 48.1 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 4.325159681 1.08128992 4 0.650902166 0.650902166 1 NA NA 1 NA NA 0 4 NA 1 1 2.44E-45 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 14419404 T C DGKB CCDS47547.1 r.? - - intronic 20 0 0 55 24 43.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.920518962 0.980129741 4 0.408192884 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.28E-40 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 49097628 A T FAM19A5 CCDS46729.1 r.? - - intronic 13 1 7.7 32 14 43.8 3 2 66.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.314802797 0.855092736 2.707078074 7.851877193 1.962969298 4 NA NA 0 NA NA 1 4 NA 0.063085307 1 2.65E-24 1 0.0000748 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 49118720 C G - - - - - - 48 0 0 40 5 12.5 17 1 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.999001996 0.999001996 1 0.75354386 0.75354386 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000178 1 0.081683532 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 49126838 A C PTPN1 CCDS13430.1 r.? - - upstream 18 0 0 63 5 7.9 14 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 0.631369261 0.631369261 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000173 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 49130506 T A - - - - - - 34 0 0 95 31 32.6 43 4 9.3 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 3.971842202 0.992960551 4 1.400748386 1.400748386 1 NA NA 1 0 NA 0 4 NA 1 1 3.38E-47 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 15051901 G T - - - - - - 51 0 0 59 13 22 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 1.978243513 0.989121756 2 1.03703057 1.03703057 1 NA NA 1 NA NA 0 4 NA 1 1 3.99E-18 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 49194123 C G - - - - - - 34 0 0 32 15 46.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.810255489 1.405127745 2 3.166947368 1.583473684 2 NA NA 1 NA NA 1 4 NA 1 1 1.59E-26 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 16288080 A C ISPD CCDS47550.1 r.? - - intronic 51 0 0 51 21 41.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.704710579 0.926177645 4 2.449157304 1.083549158 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 4.73E-35 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 49226780 T C SHC4 CCDS10130.1 r.? - - intronic 41 0 0 51 12 23.5 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.173123752 1.173123752 1 0.704588477 0.704588477 1 NA NA 1 NA NA 1 4 NA 1 1 3.24E-17 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 91475736 A G FAM190A CCDS47100.1 r.? - - intronic 37 0 0 33 16 48.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.421127745 1.210563872 2 1.989690172 1.514900129 1.313413428 NA NA 1 NA NA 0 4 NA 1 1 1.64E-28 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 49281074 T A - - - - - - 8 0 0 44 6 13.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.086914172 1.086914172 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 49311559 G T BCAT2 CCDS12735.1 r.? - - intronic 17 0 0 44 5 11.4 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 0.91108982 0.91108982 1 1.344245614 1.344245614 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000288 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 49336009 C A AGBL4 CCDS44137.1 r.? - - intronic 53 0 0 45 7 15.6 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.778754491 0.778754491 1 0.470877193 0.470877193 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000003 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 49380156 G T - - - - - - 41 0 0 102 24 23.5 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.863137784 1.019472248 2.808450931 2.199024348 1.099512174 2 NA NA 0 NA NA 0 4 NA 1 1 5.60E-33 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 49397400 G C - - - - - - 50 0 0 35 6 17.1 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.853634731 0.853634731 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.24E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 137480839 A G - - - - - - 58 0 0 35 15 42.9 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.14157485 1.070787425 2 1.104050094 1.104050094 1 NA NA 1 NA NA 0 4 NA 1 1 9.02E-26 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 49421628 A T - - - - - - 41 0 0 27 9 33.3 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 2.192982456 2.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 8.44E-15 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 49423427 T C AGBL4 CCDS44137.1 r.? - - intronic 40 0 0 28 8 28.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.427716567 1.427716567 1 1.895280702 1.895280702 1 NA NA 0 NA NA 1 4 NA 1 1 1.11E-12 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 49430879 A T C16orf78 CCDS10738.1 r.? - - intronic 28 0 0 65 22 33.8 53 7 13.2 204 0 0 130 59 45.4 114 25 21.9 4.21E-26 TRUE TRUE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.025301397 1.012650699 2 1.636575848 1.636575848 1 2.72037525 1.360187625 2 2.715228112 0.905076037 3 4 3 1 1 2.36E-34 6.70E-99 9.85E-09 1.93E-33 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 17 49455224 C A - - - - - - 38 0 0 25 6 24 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.958083832 0.958083832 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 2.55E-09 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 49488680 A C GYS1 CCDS12747.1 r.? - - intronic 24 0 0 49 19 38.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 3.100902196 1.033634065 3 3.279368421 1.093122807 3 NA NA 0 NA NA 1 4 NA 1 1 3.12E-31 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 17191331 C A - - - - - - 32 0 0 48 20 41.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 2.915670659 0.97189022 3 2.382963863 1.054264045 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.40E-33 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 49522007 C A - - - - - - 65 0 0 34 20 58.8 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.347305389 1.173652695 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-37 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 49556215 C T - - - - - - 38 0 0 84 17 20.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.461080138 0.876312315 2.808450931 2.515322371 0.928122405 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.42E-22 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 49566326 A G DPM1 CCDS13434.1 r.? - - intronic 42 0 0 52 8 15.4 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.230770459 1.230770459 1 1.600982456 1.600982456 1 NA NA 1 NA NA 0 4 NA 1 1 2.42E-10 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18748412 C T HDAC9 CCDS47554.1 r.? - - intronic 38 0 0 67 18 26.9 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.554922254 1.01958866 2.505836279 2.360899383 1.044502341 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 2.83E-26 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 19328081 C A - - - - - - 51 0 0 89 27 30.3 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.877849231 0.959283077 3 1.721029457 1.721029457 1 NA NA 1 NA NA 0 4 NA 1 1 2.66E-40 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 49579878 C T - - - - - - 36 0 0 41 12 29.3 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.462660679 1.462660679 1 0.781754386 0.781754386 1 NA NA 1 NA NA 1 4 NA 1 1 1.69E-18 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 49592057 G A - - - - - - 56 0 0 30 11 36.7 28 8 28.6 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46506986 1.46506986 1 2.50877193 1.254385965 2 0 0 1 NA NA 1 4 NA 1 1 2.44E-18 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 49623422 G T - - - - - - 43 0 0 32 15 46.9 24 0 0 119 1 0.8 209 77 36.8 206 39 18.9 3.56E-37 FALSE TRUE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.810255489 1.405127745 2 0 NA 0 2.205061876 1.102530938 2 1.958036093 0.979018046 2 NA 3 1 0.449260015 1.59E-26 1.07E-119 1 1.47E-48 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 5 49629266 T C - - - - - - 48 0 0 43 16 37.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.22902994 1.11451497 2 1.701964912 1.701964912 1 NA NA 1 NA NA 1 4 NA 1 1 3.56E-26 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 49631940 A T ENSG00000205035 ENST00000357667 r.? - - intronic 52 0 0 39 13 33.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 2.296403509 1.148201754 2 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 49661562 G A - - - - - - 45 0 0 34 21 61.8 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.467065868 1.233532934 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.16E-40 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 49708337 C A - - - - - - 30 0 0 72 11 15.3 51 10 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.222778443 1.222778443 1 2.503298246 0.834432749 3 NA NA 1 NA NA 1 4 NA 1 1 1.12E-13 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 49741753 C T DNAJC22 CCDS8785.1 r.962c>u c.? p.? 5'UTR variant 24 0 0 46 17 37 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.847045908 0.923522954 2 1.153087719 1.153087719 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-27 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 49769631 G A IP6K1 CCDS43092.1 r.? - - intronic 39 0 0 41 19 46.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 3.237303393 1.079101131 3 1.730473684 1.730473684 1 NA NA 1 NA NA 1 4 NA 1 1 4.20E-33 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 49822136 G A CDADC1 CCDS9415.1 r.76g>a c.? p.? 5'UTR variant 13 0 0 59 15 25.4 13 2 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 2.029972056 1.014986028 2 1.658877193 1.658877193 1 NA NA 1 NA NA 0 4 NA 1 1 9.90E-22 1 0.001879825 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 49823304 G T - - - - - - 59 0 0 66 20 30.3 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.421580838 0.807193613 3 1.162245614 1.162245614 1 NA NA 1 NA NA 1 4 NA 1 1 3.11E-30 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 49827403 A G ENSG00000205035 ENST00000357667 r.? - - intronic 52 0 0 43 9 20.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.043331337 1.043331337 1 1.876210526 1.876210526 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 49841916 C A AGBL4 CCDS44137.1 r.? - - intronic 55 0 0 35 9 25.7 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.282948104 1.282948104 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.23E-13 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 49854379 C G VWC2 CCDS5508.1 r.? - - intronic 44 0 0 71 9 12.7 51 9 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.54731276 1.54731276 1 2.650878666 0.978140978 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.10E-10 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 49862870 G A VWC2 CCDS5508.1 r.? - - intronic 44 0 0 94 19 20.2 45 10 22.2 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.461080138 0.876312315 2.808450931 3.343721954 0.901243802 3.710119222 0 0 1 NA NA 0 4 NA 1 1 4.81E-25 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 49864517 A G SPATS2 CCDS31794.1 r.? - - intronic 41 0 0 38 9 23.7 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.183107784 1.183107784 1 1.172631579 1.172631579 1 NA NA 1 NA NA 1 4 NA 1 1 2.79E-13 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 49876706 G A AGBL4 CCDS44137.1 r.? - - intronic 48 0 0 58 27 46.6 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.326279441 1.163139721 2 0.364929825 0.364929825 1 NA NA 0 NA NA 1 4 NA 1 1 1.68E-46 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20509053 A C - - - - - - 54 0 0 76 22 28.9 45 5 11.1 124 0 0 698 182 26.1 440 57 13 6.02E-44 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.744879299 0.914959766 3 1.224578652 1.224578652 1 2.478939436 0.989266321 2.505836279 1.434191214 1.137966763 1.260310284 4 3 1 1 1.34E-32 3.82E-248 0.00000323 2.78E-60 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 49916332 T C VWC2 CCDS5508.1 r.? - - intronic 49 0 0 105 15 14.3 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.7422498 0.96339346 1.808450931 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.11E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 49977895 A G - - - - - - 47 0 0 35 5 14.3 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.713858283 0.713858283 1 1.006554967 1.006554967 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000895 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 50019537 A G DEFB112 CCDS34476.1 r.? - - upstream 43 0 0 41 19 46.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.774303393 1.387151697 2 1.616156775 1.616156775 1 NA NA 1 NA NA 0 4 NA 1 1 4.20E-33 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 50023926 C T - - - - - - 48 0 0 61 12 19.7 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.574427146 1.574427146 1 3.282385965 1.094128655 3 NA NA 1 NA NA 1 4 NA 1 1 3.39E-16 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 50033404 C G - - - - - - 54 0 0 43 23 53.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 3.205728543 1.602864271 2 1.771556465 1.771556465 1 NA NA 1 NA NA 0 4 NA 1 1 1.04E-41 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 50038877 T C CCNB3 CCDS14331.1 r.? - - intronic 33 0 0 55 6 10.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.897502854 0.897502854 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 50040108 G C SETDB2 CCDS9417.1 r.? - - intronic 50 0 0 56 12 21.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.282291417 1.282291417 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.11E-16 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 50042256 C G NFATC2 CCDS33488.1 r.? - - intronic 19 0 0 54 18 33.3 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 1.859964912 1.859964912 1 NA NA 1 NA NA 0 4 NA 1 1 3.12E-28 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 50042314 G A FMNL3 CCDS44874.1 r.? - - intronic 22 0 0 42 6 14.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0.302929825 0.302929825 1 NA NA 1 NA NA 1 4 NA 1 1 7.02E-08 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 50047463 C G - - - - - - 56 0 0 39 9 23.1 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.153155689 1.153155689 1 2.628649123 1.314324561 2 NA NA 1 NA NA 1 4 NA 1 1 3.62E-13 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 50055878 C T - - - - - - 55 0 0 55 5 9.1 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.727273453 0.727273453 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 50066052 G A - - - - - - 46 0 0 55 13 23.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.886115768 0.943057884 2 2.324491228 1.162245614 2 NA NA 1 NA NA 1 4 NA 1 1 1.46E-18 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 50186625 C T - - - - - - 15 0 0 56 18 32.1 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.244437126 1.122218563 2 1.259596491 1.259596491 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-28 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 50187776 C T - - - - - - 60 0 0 68 25 36.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.205061876 1.102530938 2 1.823356362 1.823356362 1 NA NA 1 NA NA 0 4 NA 1 1 6.41E-40 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 50222296 C T - - - - - - 31 0 0 43 7 16.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.302698603 1.302698603 1 2.171473684 2.171473684 1 NA NA 0 NA NA 1 4 NA 1 1 2.15E-09 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 50228219 A T BCDIN3D CCDS8790.1 r.? - - downstream 35 0 0 34 7 20.6 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.028355289 1.028355289 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.73E-10 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 50229408 A T AGBL4 CCDS44137.1 r.? - - intronic 34 0 0 38 9 23.7 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.183107784 1.183107784 1 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20519454 C A - - - - - - 48 0 0 68 19 27.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.649900777 1.057491584 2.505836279 1.886513059 1.886513059 1 NA NA 1 NA NA 0 4 NA 1 1 5.06E-28 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 50257038 A T ZBED4 CCDS33677.1 r.? - - intronic 28 0 0 34 9 26.5 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.400508542 1.400508542 1 0.447333333 0.447333333 1 NA NA 0 NA NA 1 4 NA 1 1 9.15E-14 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 50262020 G T TSKS CCDS12780.1 r.? - - intronic 25 0 0 36 4 11.1 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 0.887113772 0.887113772 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 50276057 C G GNAI2 CCDS2813.1 r.? - - intronic 18 0 0 48 13 27.1 26 8 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.894836327 0.947418164 2 3.625754386 1.208584795 3 NA NA 1 NA NA 1 4 NA 1 1 2.00E-19 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 50283363 G C - - - - - - 51 0 0 102 5 4.9 58 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.596994687 0.596994687 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000174019 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 50296632 C A FAIM2 CCDS8791.1 r.? - - intronic 29 0 0 41 17 41.5 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.071686627 1.035843313 2 1.465789474 1.465789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-28 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 50343539 T C FAM170B ENST00000311787 r.? - - upstream 31 0 0 59 16 27.1 35 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.704383561 0.85219178 2 0 0 1 NA NA 1 0 0 1 3 NA 1 1 1.37E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 50368915 T A C10orf128 CCDS41519.1 r.? - - intronic 50 0 0 55 11 20 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.257847646 1.257847646 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 4.77E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 50393219 G C ATP8B4 CCDS32238.1 r.? - - intronic 49 0 0 49 8 16.3 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.813698603 0.813698603 1 0.885768371 0.885768371 1 NA NA 1 NA NA 0 4 NA 1 1 1.47E-10 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 50417782 G A DCC CCDS11952.1 r.? - - intronic 48 0 0 35 5 14.3 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.570858283 0.570858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 50441363 C T - - - - - - 48 0 0 46 16 34.8 30 5 16.7 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.085221557 1.042610778 2 1.730116548 1.730116548 1 NA NA 1 NA NA 0 4 NA 1 1 1.31E-25 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 50442651 T C - - - - - - 57 0 0 39 5 12.8 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.510978044 0.510978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 50474999 G C CACNA2D2 CCDS33763.1 r.? - - intronic 23 0 0 56 21 37.5 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.622005988 0.874001996 3 0.941754386 0.941754386 1 NA NA 1 NA NA 1 4 NA 1 1 5.43E-34 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 50478866 G A VRK3 CCDS12791.1 r.? - - downstream 27 0 0 35 10 28.6 35 12 34.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.285716567 1.142858283 2 5.06677193 1.013354386 5 NA NA 0 NA NA 1 4 NA 1 1 1.60E-15 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 50493708 T C SMARCD1 CCDS8797.2 r.2643u>c c.? p.? 3'UTR variant 28 0 0 32 8 25 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.469052632 0.469052632 1 NA NA 1 NA NA 1 4 NA 1 1 3.69E-12 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 50526288 T G SLC27A2 CCDS10133.1 r.? - - intronic 31 0 0 38 18 47.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.366215569 1.183107784 2 2.345273073 1.022520397 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 1.16E-31 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 50576302 G C - - - - - - 58 0 0 45 12 26.7 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.599868263 1.599868263 1 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 6.03E-18 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 50576923 C A TRIM13 CCDS9423.1 r.? - - intronic 35 0 0 48 6 12.5 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 50620872 A T - - - - - - 32 1 3.1 51 29 56.9 37 11 29.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.685129575 1.171282394 4 3.295594523 1.417857601 2.32434803 NA NA 1 NA NA 0 4 NA 0.14819814 1 2.61E-53 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 50683309 C A DCC CCDS11952.1 r.? - - intronic 55 0 0 36 16 44.4 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 2.561403509 1.280701754 2 NA NA 1 NA NA 1 4 NA 1 1 1.01E-27 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 50718169 G C - - - - - - 51 0 0 60 34 56.7 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.668661633 1.167165408 4 3.173535466 1.365344357 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 3.58E-62 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 50746304 T C NRXN1 CCDS46282.1 r.? - - intronic 63 0 0 66 22 33.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 1.634807018 1.634807018 1 NA NA 1 NA NA 1 4 NA 1 1 3.52E-34 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20698695 C A ABCB5 CCDS5371.1 r.? - - intronic 47 0 0 106 39 36.8 62 8 12.9 331 0 0 776 258 33.2 599 99 16.5 1.28E-85 TRUE TRUE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.495209627 0.996968868 3.505836279 1.423158974 1.423158974 1 3.153286946 1.051095649 3 1.820319618 0.910159809 2 4 3 1 1 2.02E-61 0 1.04E-09 2.45E-114 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 50843375 G T - - - - - - 39 0 0 39 13 33.3 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.228 1.228 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 50918642 C T DOCK3 CCDS46835.1 r.? - - intronic 44 0 0 37 11 29.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.076628743 1.038314371 2 3.119561404 1.039853801 3 NA NA 1 NA NA 1 4 NA 1 1 3.70E-17 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 50933183 C G - - - - - - 50 0 0 52 7 13.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.808922156 0.808922156 1 2.132507923 2.132507923 1 NA NA 0 NA NA 0 4 NA 1 1 8.58E-09 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 20701039 C G ABCB5 CCDS5371.1 r.? - - intronic 52 0 0 90 36 40 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 3.799140899 0.949785225 4 2.592576425 1.147000234 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 1.93E-58 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23426531 C T IGF2BP3 CCDS5382.1 r.? - - intronic 45 0 0 67 29 43.3 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 8.289880778 NA 6 NA 2 NA 0.710119222 NA 6 NA 3 NA 0.289880778 NA NA 1 3.961256188 0.990314047 4 NA NA 1 NA NA 0 NA NA 1 1 1.22E-48 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 51019407 G A ATL1 CCDS32077.1 r.? - - intronic 61 0 0 37 10 27 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.077844311 1.077844311 1 0.315789474 0.315789474 1 NA NA 1 NA NA 1 4 NA 1 1 3.01E-15 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23428686 C T IGF2BP3 CCDS5382.1 r.? - - intronic 39 0 0 75 26 34.7 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.230067344 1.057516836 4 4.925212067 0.985042413 5 NA NA 1 NA NA 0 4 NA 1 1 1.19E-40 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 51041729 C T PARG ENST00000402038 r.? - - intronic 48 0 0 34 10 29.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.84903604 0.92451802 2 2.025122807 2.025122807 1 NA NA 1 NA NA 0 4 NA 1 1 1.15E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 51113557 T C - - - - - - 40 0 0 27 11 40.7 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.031750499 1.01587525 2 1.036751616 1.036751616 1 NA NA 1 NA NA 0 4 NA 1 1 5.92E-19 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 51135748 G T SYT3 CCDS12798.1 r.1103c>a c.469C>A p.P157T missense 12 0 0 45 12 26.7 16 4 25 198 0 0 63 11 17.5 37 10 27 2.72E-12 TRUE TRUE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.133868263 1.066934132 2 3.692982456 0.923245614 4 1.398602794 1.398602794 1 3.988421053 0.997105263 4 4 3 1 1 6.03E-18 2.37E-14 0.00000108 3.01E-15 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 23429352 C T IGF2BP3 CCDS5382.1 r.? - - intronic 52 0 0 91 38 41.8 48 10 20.8 80 1 1.2 298 76 25.5 262 50 19.1 2.26E-47 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 5.095585446 1.019117089 5 3.132856605 1.044285535 3 3.10855093 1.036183643 3 2.876805825 0.958935275 3 4 3 1 0.33035218 1.70E-62 7.13E-104 5.37E-14 5.70E-62 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 51205765 G T COBL CCDS34637.1 r.? - - intronic 55 0 0 102 12 11.8 65 7 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.437660674 1.437660674 1 1.626675545 1.626675545 1 NA NA 1 NA NA 0 4 NA 1 1 2.18E-13 1 4.22E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 51214817 G A COBL CCDS34637.1 r.? - - intronic 19 0 0 85 23 27.1 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 3.301746125 1.100582042 3 1.00914131 1.00914131 1 NA NA 0 NA NA 0 4 NA 1 1 3.06E-33 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 51238521 T C NRXN1 CCDS46282.1 r.? - - intronic 45 0 0 69 15 21.7 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.734267465 0.867133733 2 1.251649123 1.251649123 1 NA NA 1 NA NA 1 4 NA 1 1 1.34E-20 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23432492 C A IGF2BP3 CCDS5382.1 r.? - - intronic 57 0 0 94 37 39.4 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.803015947 1.00029069 4.801620163 4.352863264 0.924151398 4.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.07E-59 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 25421156 A T - - - - - - 63 0 0 84 10 11.9 53 3 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.450657101 1.450657101 1 0.858523204 0.858523204 1 NA NA 0 NA NA 0 4 NA 1 1 1.93E-11 1 0.002429596 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 51294174 C T - - - - - - 60 0 0 45 5 11.1 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 0.887113772 0.887113772 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 51294775 A G - - - - - - 52 0 0 64 16 25 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.998003992 0.999001996 2 2.835368421 0.945122807 3 NA NA 1 NA NA 1 4 NA 1 1 5.94E-23 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 51313596 G A - - - - - - 52 0 0 47 19 40.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.420774451 1.210387226 2 1.616156775 1.616156775 1 NA NA 1 NA NA 0 4 NA 1 1 1.16E-31 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 51314667 G A - - - - - - 50 0 0 45 14 31.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.863516966 0.931758483 2 1.884541886 1.884541886 1 NA NA 0 NA NA 1 4 NA 1 1 8.81E-22 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 51322711 C A - - - - - - 42 0 0 51 17 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 3.307912281 1.102637427 3 NA NA 1 NA NA 0 4 NA 1 1 9.59E-27 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 51404064 G A DLEU7 ENST00000400393 r.? - - intronic 50 0 0 40 10 25 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 51506619 C G KLK9 CCDS12816.1 r.? - - intronic 17 0 0 42 5 11.9 28 0 0 2 0 0 0 0 NA 2 0 0 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 0.9510499 0.9510499 1 0 0 1 NA NA 0 0 0 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 51515201 C T TFCP2 CCDS8808.1 r.? - - intronic 29 0 0 34 10 29.4 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.467652695 1.467652695 1 0.723122807 0.723122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-15 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 51523972 G A SNTG1 CCDS6147.1 r.? - - intronic 46 0 0 29 10 34.5 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.032245509 1.032245509 1 0.939292104 0.939292104 1 NA NA 0 NA NA 0 4 NA 1 1 1.79E-16 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 51533629 C T - - - - - - 62 0 0 56 12 21.4 49 8 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.282291417 1.282291417 1 2.020923206 1.010461603 2 NA NA 0 NA NA 1 4 NA 1 1 1.11E-16 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 51542327 C G SNTG1 CCDS6147.1 r.? - - intronic 66 0 0 23 12 52.2 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.561832335 1.561832335 1 1.17411513 1.17411513 1 NA NA 0 NA NA 0 4 NA 1 1 3.14E-22 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 51542909 G C - - - - - - 42 0 0 45 12 26.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.133868263 1.066934132 2 1.826385965 1.826385965 1 NA NA 1 NA NA 1 4 NA 1 1 6.03E-18 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 51590195 A G - - - - - - 53 0 0 52 14 26.9 51 9 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.611852295 0.805926148 2 2.182101131 0.919310516 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 9.04E-21 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 26544015 T G - - - - - - 33 0 0 85 32 37.6 47 10 21.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.583588823 0.954592131 4.801620163 3.208165658 1.069388553 3 NA NA 0 NA NA 0 4 NA 1 1 4.51E-51 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 51629210 C T DAZAP2 CCDS8809.1 r.? - - upstream 41 0 0 37 8 21.6 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.078275449 1.078275449 1 0.254070175 0.254070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.33E-11 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 51631579 T C - - - - - - 40 0 0 40 7 17.5 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.048602794 1.048602794 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.26E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 51650482 C T - - - - - - 62 0 0 59 16 27.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.165836327 1.082918164 2 1.826385965 1.826385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.37E-23 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 51661160 T C - - - - - - 60 0 0 69 21 30.4 47 4 8.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.429572854 0.809857618 3 1.085614035 1.085614035 1 NA NA 1 NA NA 1 4 NA 1 1 1.02E-31 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 51675069 A G - - - - - - 60 0 0 52 5 9.6 43 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 189684357 T A - - - - - - 51 0 0 57 20 35.1 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.103197605 1.051598802 2 1.511281686 1.511281686 1 NA NA 1 NA NA 0 4 NA 1 1 9.67E-32 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 51683313 T A - - - - - - 33 0 0 58 6 10.3 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.617177645 0.617177645 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000506 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 51740776 T C - - - - - - 56 0 0 61 13 21.3 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.702299401 0.851149701 2 1.379368421 1.379368421 1 NA NA 1 NA NA 1 4 NA 1 1 6.41E-18 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 51824652 C T IGLON5 CCDS46158.1 r.? - - intronic 32 0 0 52 25 48.1 38 11 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 3.844159681 0.96103992 4 4.269087719 1.06727193 4 NA NA 0 NA NA 1 4 NA 1 1 1.25E-43 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 51849434 C T ETFB CCDS33085.1 r.? - - intronic 44 0 0 52 14 26.9 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.149852295 1.074926148 2 1.551052632 1.551052632 1 NA NA 0 NA NA 1 4 NA 1 1 9.04E-21 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 51923766 G C - - - - - - 56 0 0 34 13 38.2 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.9069501 0.95347505 2 1.147472662 1.147472662 1 NA NA 0 NA NA 0 4 NA 1 1 1.03E-21 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 51941803 A T - - - - - - 43 0 0 29 16 55.2 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.203592814 1.101796407 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 51957430 G A INTS6 CCDS41890.1 r.? - - intronic 42 0 0 62 6 9.7 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 0.775225549 0.775225549 1 0.484736842 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000756 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 26952830 G A SKAP2 ENST00000432747 r.? - - intronic 49 0 0 78 7 9 46 3 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.097135622 1.097135622 1 0.979017689 0.979017689 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000151 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 52015715 A T - - - - - - 39 0 0 65 11 16.9 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.720534823 4.32434803 5 2 1 2 0.279465177 0.67565197 5 3 2 2 0.720534823 0.32434803 1.472421084 1.472421084 1 1.198398008 1.198398008 1 NA NA 0 NA NA 0 4 NA 1 1 3.41E-14 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 52019577 C T SCN8A CCDS44891.1 r.? - - intronic 37 0 0 35 8 22.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.15E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 52037931 T C SIGLEC6 CCDS12834.3 r.? - - upstream 59 0 0 53 8 15.1 50 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.206794411 1.206794411 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.83E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 52041128 G A - - - - - - 32 0 0 48 14 29.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.749668663 0.874834331 2 1.802636403 1.802636403 1 NA NA 1 NA NA 0 4 NA 1 1 2.51E-21 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 52044688 C T - - - - - - 49 0 0 49 10 20.4 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.283004599 1.283004599 1 0.312385965 0.312385965 1 NA NA 1 NA NA 0 4 NA 1 1 6.72E-14 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 52060381 T C SGMS1 CCDS7240.1 r.? - - downstream 61 0 0 57 17 29.8 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.874192993 0.937096496 2 3.113087719 1.55654386 2 NA NA 0 NA NA 0 4 NA 1 1 8.82E-26 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 52079041 G A FRMD6 CCDS9704.1 r.? - - intronic 42 0 0 25 11 44 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.756487026 0.878243513 2 2.596491228 1.298245614 2 NA NA 1 NA NA 1 4 NA 1 1 2.04E-19 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52082156 A G - - - - - - 45 0 0 32 8 25 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.998003992 0.999001996 2 2.324491228 2.324491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.69E-12 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 52105273 C G - - - - - - 42 0 0 53 6 11.3 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 0.903097804 0.903097804 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000293 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 52106313 G T SGMS1 CCDS7240.1 r.? - - intronic 34 0 0 59 5 8.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.53458525 0.53458525 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52108787 G A - - - - - - 56 0 0 56 14 25 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.998003992 0.999001996 2 1.213333333 1.213333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.91E-20 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 52178964 T C - - - - - - 42 0 0 33 21 63.6 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.538922156 1.269461078 2 2.815789474 1.407894737 2 NA NA 1 NA NA 1 4 NA 1 1 1.60E-40 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 52183288 G A ZNF217 CCDS13443.1 r.? - - downstream 12 0 0 57 17 29.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.381620758 1.190810379 2 1.907052632 1.907052632 1 NA NA 1 NA NA 0 4 NA 1 1 8.82E-26 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29274696 C A CHN2 CCDS5420.1 r.? - - intronic 49 0 0 98 10 10.2 58 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.243420372 1.243420372 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.17E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 52362569 T A ITGA2 CCDS3957.1 r.? - - intronic 48 0 0 54 14 25.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.551932136 1.551932136 1 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.64E-20 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 52221791 C T SGMS1 CCDS7240.1 r.? - - intronic 47 0 0 51 7 13.7 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.861625638 0.861625638 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.46E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52228051 C T - - - - - - 44 0 0 76 22 28.9 46 5 10.9 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.309692615 1.154846307 2 1.392140351 1.392140351 1 0 0 1 NA NA 1 4 NA 1 1 1.34E-32 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29678539 T G - - - - - - 41 0 0 87 23 26.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 3.218264492 1.072754831 3 2.515322371 0.928122405 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 5.63E-33 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 52303568 C A ACVRL1 CCDS31804.1 r.? - - intronic 46 0 0 35 7 20 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.583052632 1.583052632 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 97163336 G A - - - - - - 44 0 0 69 16 23.2 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.390147705 1.390147705 1 1.464982456 1.464982456 1 NA NA 1 NA NA 1 4 NA 1 1 2.27E-22 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 52385244 G T GNG2 CCDS32082.1 r.? - - intronic 48 0 0 31 10 32.3 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.289421158 1.289421158 1 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29810281 G T - - - - - - 34 0 0 88 18 20.5 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.49903114 0.891994987 2.801620163 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.62E-24 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 52426651 C A ZNF613 CCDS12844.1 r.? - - upstream 42 0 0 45 5 11.1 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 0.887113772 0.887113772 1 2.954385965 0.984795322 3 NA NA 0 NA NA 1 4 NA 1 1 0.00000323 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 52457890 G A AC011460.1 ENST00000500242 r.? - - intronic 46 0 0 50 29 58 48 13 27.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 4.635369261 1.158842315 4 4.003192982 1.000798246 4 NA NA 0 NA NA 1 4 NA 1 1 1.13E-53 1 2.00E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 52511045 T C - - - - - - 40 0 0 55 18 32.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.959389222 0.979694611 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 4.61E-28 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 100907144 G A - - - - - - 45 0 0 29 6 20.7 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.826347305 0.826347305 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 52598618 A C AC068987.1 ENST00000513193 r.? - - intronic 23 0 0 54 12 22.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 6.90E-17 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52601315 C G - - - - - - 50 0 0 70 40 57.1 47 16 34 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.563441118 1.140860279 4 4.34245614 1.085614035 4 NA NA 1 NA NA 1 4 NA 1 1 4.35E-73 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 52625190 G A - - - - - - 37 0 0 52 24 46.2 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.768311377 1.384155689 2 1.400350877 1.400350877 1 NA NA 1 NA NA 1 4 NA 1 1 2.22E-41 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 52728493 A T - - - - - - 56 0 0 105 17 16.2 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.973737536 0.986868768 2 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.25E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 52736578 C A - - - - - - 22 0 0 19 3 15.8 9 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.993699641 0.993699641 1 0 0 1 NA NA 1 NA NA 0 4 NA 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31546603 T C - - - - - - 13 0 0 100 19 19 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.316175203 1.158087601 2 3.388907386 0.913422772 3.710119222 NA NA 1 NA NA 0 4 NA 1 1 1.72E-24 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 52776673 C A CYP24A1 CCDS33491.1 r.? - - intronic 50 0 0 37 10 27 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.157844311 1.078922156 2 3.413859649 1.137953216 3 NA NA 1 NA NA 0 4 NA 1 1 3.01E-15 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 52790771 C A - - - - - - 52 0 0 94 17 18.1 33 3 9.1 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.205225272 1.102612636 2 1.370624765 1.370624765 1 0 0 1 NA NA 0 4 NA 1 1 1.12E-21 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 52842321 G T ITIH4 CCDS2865.1 r.? - - downstream 17 0 0 24 9 37.5 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.676797438 5 3 3 0 2 0.323202562 1 3 NA 1 NA 0.676797438 NA 2.125805027 1.062902514 2 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 2.39E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 52857319 G T KRT6C CCDS8829.1 r.? - - downstream 42 0 0 40 9 22.5 42 7 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.123203593 1.123203593 1 1.631912281 1.631912281 1 NA NA 1 NA NA 1 4 NA 1 1 4.64E-13 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 52870834 G A - - - - - - 46 0 0 82 18 22 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.680384308 0.954399551 2.808450931 1.792355462 1.792355462 1 NA NA 1 NA NA 0 4 NA 1 1 1.65E-24 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 52878863 A G NDUFS4 CCDS3960.1 r.? - - intronic 30 0 0 46 6 13 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 1.038962076 1.038962076 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 52881604 C T KIAA1370 CCDS45263.1 r.? - - intronic 40 0 0 46 10 21.7 27 1 3.7 153 0 0 333 55 16.5 321 3 0.9 0.62344385 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.083267465 1.083267465 1 0.372425338 0.372425338 1 0.823682635 0.823682635 1 0.090589947 NA 0 4 NA 1 1 3.38E-14 2.68E-64 0.126579904 0.217677305 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 2 52910517 C G - - - - - - 50 0 0 59 10 16.9 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.350650699 1.350650699 1 1.417684211 1.417684211 1 NA NA 1 NA NA 1 4 NA 1 1 4.91E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52940132 C T - - - - - - 36 0 0 54 8 14.8 35 2 5.7 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.182818363 1.182818363 1 0.728 0.728 1 NA NA 1 0 0 1 4 NA 1 1 3.31E-10 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 52963515 G T THSD1 CCDS9433.1 r.? - - intronic 50 0 0 61 21 34.4 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.061253493 1.030626747 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 4.80E-33 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 34050072 A G BMPER CCDS5442.1 r.? - - intronic 46 0 0 106 24 22.6 51 7 13.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 2.755029452 0.983370083 2.801620163 2.063468053 1.031734026 2 NA NA 0 NA NA 0 4 NA 1 1 1.56E-32 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 52983873 T A - - - - - - 43 0 0 94 6 6.4 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.511489022 0.511489022 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000873 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 53024960 C G SFMBT1 CCDS2867.1 r.? - - intronic 53 0 0 46 7 15.2 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.812614613 0.812614613 1 0.623912281 0.623912281 1 NA NA 0 NA NA 1 4 NA 1 1 3.53E-09 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 53043208 C A - - - - - - 60 0 0 87 36 41.4 61 23 37.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 5.043995925 1.008799185 5 5.678302597 0.994428028 5.710119222 NA NA 0 NA NA 0 4 NA 1 1 4.15E-59 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 53046995 C A - - - - - - 42 0 0 54 14 25.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.551932136 1.551932136 1 1.294997416 1.294997416 1 NA NA 1 NA NA 0 4 NA 1 1 1.64E-20 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 108241869 C T FER CCDS4098.1 r.? - - intronic 52 0 0 36 15 41.7 29 13 44.8 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.664670659 0.832335329 2 3.929824561 1.964912281 2 NA NA 1 0 0 1 4 NA 1 1 1.54E-25 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 53100355 C T - - - - - - 51 0 0 34 9 26.5 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 1.587884232 1 2.089754386 1.044877193 2 NA NA 1 NA NA 1 4 NA 1 1 9.15E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 53100615 T A KRT77 CCDS8837.1 r.? - - upstream 41 0 0 44 4 9.1 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.454273453 0.454273453 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 53152032 G C - - - - - - 47 0 0 84 6 7.1 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.865033118 0.865033118 1 1.370624765 1.370624765 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000455 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 53212127 T A HNRNPA1L2 CCDS31980.1 r.? - - intronic 49 0 0 40 5 12.5 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 53233634 G A - - - - - - 49 0 0 65 7 10.8 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.863137725 0.863137725 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.22E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 53288126 T C CHD9 CCDS45485.1 r.? - - intronic 50 0 0 41 10 24.4 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.462051896 1.462051896 1 1.586982641 1.586982641 1 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 53358367 C G - - - - - - 40 0 0 36 5 13.9 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.69389022 0.69389022 1 0.30196649 0.30196649 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000104 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 53417502 C T - - - - - - 45 0 0 44 5 11.4 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 0.91108982 0.91108982 1 1.259596491 1.259596491 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000288 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 36209736 G A EEPD1 CCDS34619.1 r.? - - intronic 25 0 0 60 34 56.7 37 12 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.252817795 8.289880778 5 6 2 2 0.747182205 0.710119222 5 6 3 3 0.252817795 0.289880778 5.241820744 1.048364149 5 4.880026635 0.976005327 5 NA NA 0 NA NA 1 4 NA 1 1 3.58E-62 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 53428849 C T - - - - - - 54 0 0 64 21 32.8 47 9 19.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.621381238 0.873793746 3 2.439438596 0.813146199 3 NA NA 1 NA NA 1 4 NA 1 1 1.60E-32 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 53536919 C T PODN CCDS573.1 r.? - - intronic 12 0 0 49 17 34.7 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.732229541 0.86611477 2 3.437403509 1.14580117 3 NA NA 0 NA NA 1 4 NA 1 1 4.26E-27 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 38106093 A G - - - - - - 37 0 0 61 21 34.4 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 4.191146373 1.047786593 4 2.801496772 1.03371717 2.710119222 NA NA 1 NA NA 0 4 NA 1 1 4.80E-33 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 53593019 C T - - - - - - 43 0 0 48 5 10.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.519169661 0.519169661 1 1.80173339 1.80173339 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000447 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 53596053 G A HUWE1 CCDS35301.1 r.? - - intronic 31 0 0 55 12 21.8 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.720534823 4.32434803 5 2 1 2 0.279465177 0.67565197 5 3 2 2 0.720534823 0.32434803 1.899336072 0.949668036 2 0.377273447 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.78E-17 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 53597700 G A - - - - - - 44 0 0 61 12 19.7 41 5 12.2 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.574427146 1.574427146 1 1.558175439 1.558175439 1 0 0 1 NA NA 1 4 NA 1 1 3.39E-16 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 53614130 T G OLFM4 CCDS9440.1 r.? - - intronic 63 0 0 55 5 9.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545273453 0.545273453 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 53668906 C T HUWE1 CCDS35301.1 r.? - - intronic 59 0 0 49 31 63.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.720534823 4.32434803 5 2 1 2 0.279465177 0.67565197 5 3 2 2 0.720534823 0.32434803 5.515044651 1.10300893 5 2.496662517 1.074134547 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 4.93E-59 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 53707181 G T - - - - - - 51 0 0 48 8 16.7 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.23E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 53731235 C A - - - - - - 66 0 0 51 16 31.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.509493014 0.836497671 3 1.306684211 1.306684211 1 NA NA 1 NA NA 0 4 NA 1 1 9.28E-25 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 40231044 A C C7orf10 ENST00000309930 r.? - - intronic 34 0 0 89 5 5.6 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.682279642 0.682279642 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000915 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 46395162 G C - - - - - - 51 0 0 80 6 7.5 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.913767378 0.913767378 1 0.301236212 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000342 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 53761874 G A VN1R2 CCDS12862.1 r.330g>a c.246G>A p.E82E silent 47 0 0 67 14 20.9 48 7 14.6 60 0 0 49 2 4.1 41 7 17.1 1.67E-07 TRUE TRUE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.670331337 0.835165669 2 2.156701754 1.078350877 2 0.327672655 0.327672655 1 2.526 0.842 3 4 3 1 1 4.66E-19 0.025168485 4.81E-09 1.51E-09 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 19 53762015 G T VN1R2 CCDS12862.1 r.471g>u c.387G>T p.R129S missense 46 0 0 63 17 27 60 5 8.3 255 1 0.4 220 32 14.5 235 25 10.6 4.28E-18 TRUE TRUE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.157844311 1.078922156 2 1.226070175 1.226070175 1 1.158842315 1.158842315 1 1.565824561 0.782912281 2 4 3 1 0.721461271 6.22E-25 3.01E-36 0.0000136 3.52E-25 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 19 53762110 G T VN1R2 CCDS12862.1 r.566g>u c.482G>T p.G161V missense 46 0 0 46 12 26.1 39 2 5.1 295 0 0 238 42 17.6 269 22 8.2 9.82E-14 TRUE TRUE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.085916168 1.042958084 2 0.753368421 0.753368421 1 1.40659481 0.703297405 2 1.211298246 1.211298246 1 4 3 1 1 8.12E-18 8.66E-51 0.016387522 7.66E-20 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 49515022 G A - - - - - - 44 0 0 103 22 21.4 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.607282918 0.928370473 2.808450931 2.937053067 0.979017689 3 NA NA 1 NA NA 0 4 NA 1 1 2.46E-29 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 53762192 G A VN1R2 CCDS12862.1 r.648g>a c.564G>A p.V188V silent 54 0 0 65 17 26.2 34 4 11.8 303 0 0 224 36 16.1 236 15 6.4 2.40E-08 TRUE TRUE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.093908184 1.046954092 2 1.743087719 1.743087719 1 1.286714571 1.286714571 1 0.945403509 0.945403509 1 4 3 1 1 1.14E-24 3.25E-42 0.0000257 2.06E-12 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 49575606 T C - - - - - - 51 0 0 101 9 8.9 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.084337288 1.084337288 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.70E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 53771042 C T - - - - - - 41 0 0 38 12 31.6 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 5.86E-19 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 53795907 G A - - - - - - 42 0 0 56 8 14.3 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.48E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 53866543 G T FTO CCDS32448.1 r.? - - intronic 47 0 0 36 5 13.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.83289022 0.83289022 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 53887441 T C SCFD2 CCDS33984.1 r.? - - intronic 50 0 0 42 16 38.1 31 10 32.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.901958084 0.950979042 2 3.156333333 1.578166667 2 NA NA 1 NA NA 1 4 NA 1 1 2.25E-26 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 53911396 T C - - - - - - 46 0 0 45 5 11.1 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 1.464982456 1.464982456 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000323 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 53926658 G A - - - - - - 46 0 0 39 10 25.6 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.021956088 1.021956088 1 0.614035088 0.614035088 1 NA NA 1 NA NA 1 4 NA 1 1 5.44E-15 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 50246677 C A - - - - - - 22 0 0 85 9 10.6 28 6 21.4 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.291457894 1.291457894 1 3.223227469 1.074409156 3 NA NA 1 NA NA 0 4 NA 1 1 5.71E-10 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 53978221 C G - - - - - - 58 0 0 50 18 36 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.157125749 1.078562874 2 1.572701754 1.572701754 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-29 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 54006062 T G - - - - - - 50 0 0 53 17 32.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 2.46677193 1.233385965 2 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 50963549 G T - - - - - - 44 0 0 108 9 8.3 45 1 2.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.011235898 1.011235898 1 0.331359833 NA 0 NA NA 0 NA NA 0 NA NA 1 1 4.89E-09 1 0.201934322 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 54040156 C G - - - - - - 27 0 0 22 8 36.4 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 1.192982456 1.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-13 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 54061596 G A ZNF331 CCDS33102.1 r.? - - intronic 35 0 0 55 30 54.5 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 4.355648703 1.088912176 4 5.111087719 1.022217544 5 NA NA 0 NA NA 1 4 NA 1 1 2.55E-54 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 52395977 G A - - - - - - 35 0 0 102 13 12.7 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.54731276 1.54731276 1 1.74717003 1.74717003 1 NA NA 1 NA NA 0 4 NA 1 1 7.55E-15 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 54162302 T A - - - - - - 50 0 0 48 14 29.2 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.836457563 0.918228782 2 2.208245614 1.104122807 2 NA NA 0 NA NA 0 4 NA 1 1 2.51E-21 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 54163119 C G FAM120C CCDS14356.1 r.? - - intronic 45 0 0 56 10 17.9 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.720534823 4.32434803 5 2 1 2 0.279465177 0.67565197 5 3 2 2 0.720534823 0.32434803 1.559546592 1.559546592 1 0.854413395 0.854413395 1 NA NA 0 NA NA 0 4 NA 1 1 2.82E-13 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 54172013 C A - - - - - - 44 0 0 44 13 29.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.767644711 0.883822355 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 54172014 A G - - - - - - 44 0 0 44 13 29.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.767644711 0.883822355 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 54179443 C T - - - - - - 57 0 0 24 9 37.5 19 6 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 2.771929825 1.385964912 2 NA NA 1 NA NA 1 4 NA 1 1 2.39E-15 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 54209502 A T - - - - - - 60 0 0 33 4 12.1 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483033932 0.483033932 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 54236128 C A - - - - - - 34 0 0 44 8 18.2 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 1.044877193 1.044877193 1 NA NA 1 NA NA 1 4 NA 1 1 5.90E-11 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 54237300 C A - - - - - - 38 0 0 49 9 18.4 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.35E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 52746975 C A - - - - - - 62 0 0 109 12 11 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 1.340192154 1.340192154 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.89E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 54280702 C T - - - - - - 56 0 0 66 12 18.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.636546906 1.636546906 1 1.992421053 1.992421053 1 NA NA 1 NA NA 0 4 NA 1 1 9.36E-16 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 54287744 C T MIR373 ENST00000362273 r.? - - upstream 13 0 0 47 24 51.1 23 6 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 4.08392016 1.02098004 4 3.855473684 0.963868421 4 NA NA 0 NA NA 1 4 NA 1 1 8.60E-43 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 52753253 G T - - - - - - 48 0 0 87 5 5.7 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0.694463207 0.694463207 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000821 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 54328774 A T CACNA2D3 ENST00000474759 r.? - - intronic 36 0 0 35 4 11.4 35 6 17.1 259 0 0 203 67 33 239 24 10 7.43E-17 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.60946096 0.60946096 1 2.013 2.013 1 1.764229095 1.07191461 1.645867197 1.177192982 1.177192982 1 4 3 1 1 0.0000289 1.69E-100 2.24E-08 1.25E-23 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 19 54332005 C T NLRP12 CCDS12864.1 r.? - - upstream 37 0 0 61 15 24.6 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.966035928 0.983017964 2 3.087333333 1.029111111 3 NA NA 0 NA NA 1 4 NA 1 1 1.73E-21 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 54332576 G A - - - - - - 59 0 0 53 23 43.4 48 9 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.729529392 1.188186897 2.297222263 2.025122807 1.012561404 2 NA NA 0 NA NA 0 4 NA 1 1 6.43E-39 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 54362104 A G - - - - - - 63 0 0 56 10 17.9 49 8 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.609570858 1.609570858 1 2.081824561 1.040912281 2 NA NA 1 NA NA 0 4 NA 1 1 2.82E-13 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 54370219 A G - - - - - - 38 0 0 89 12 13.5 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.213922156 1.213922156 1 1.277192982 1.277192982 1 NA NA 1 NA NA 0 4 NA 1 1 4.06E-14 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 54394833 G A GZMA CCDS3965.1 r.? - - upstream 52 0 0 49 11 22.4 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.342211577 1.342211577 1 0.721719298 0.721719298 1 NA NA 1 NA NA 1 4 NA 1 1 1.19E-15 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 54395886 C A - - - - - - 25 0 0 41 10 24.4 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.218051896 1.218051896 1 1.728297472 1.728297472 1 NA NA 1 NA NA 0 4 NA 1 1 9.51E-15 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 54398995 G C UNC13C CCDS45264.1 r.? - - intronic 50 0 0 42 19 45.2 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.256391218 1.128195609 2 3.120320397 1.360434863 2.293619843 NA NA 0 NA NA 0 4 NA 1 1 7.64E-33 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 54409215 C G HOXC8 CCDS8870.1 r.? - - downstream 35 0 0 58 15 25.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.292932136 1.292932136 1 2.296403509 1.148201754 2 NA NA 1 NA NA 1 4 NA 1 1 7.42E-22 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 54425276 C A - - - - - - 51 0 0 60 9 15 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.898802395 0.898802395 1 0.894070175 0.894070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.29E-11 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 54442137 C A - - - - - - 43 0 0 84 12 14.3 53 3 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.285858283 1.285858283 1 0.728 0.728 1 NA NA 1 NA NA 0 4 NA 1 1 1.98E-14 1 0.002429596 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 54448250 G A CACNG7 CCDS12868.1 r.? - - downstream 37 0 0 48 9 18.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.502499002 1.502499002 1 0.842 0.842 1 NA NA 0 NA NA 1 4 NA 1 1 2.75E-12 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 54449586 C T ENSG00000227093 ENST00000449142 r.? - - intronic 28 0 0 54 6 11.1 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.665113772 0.665113772 1 1.202635282 1.202635282 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000329 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 54454862 T C - - - - - - 50 0 0 90 32 35.6 50 3 6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.201157685 1.067052562 3 0.766315789 0.766315789 1 NA NA 1 NA NA 0 4 NA 1 1 4.22E-50 1 0.002055544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 55254025 G A EGFR CCDS5514.1 r.? - - intronic 18 0 0 88 8 9.1 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.818273453 0.818273453 1 0.894035088 0.894035088 1 NA NA 1 NA NA 0 4 NA 1 1 1.76E-08 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 54506787 C A ACYP2 CCDS1850.1 r.? - - intronic 46 0 0 59 12 20.3 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.622379242 1.622379242 1 0.613052632 0.613052632 1 NA NA 1 NA NA 1 4 NA 1 1 2.20E-16 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 54537683 T A UNC13C CCDS45264.1 r.? - - intronic 51 0 0 39 6 15.4 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.768770459 0.768770459 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 57283952 C T - - - - - - 26 0 0 50 5 10 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.899201597 0.899201597 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 54551658 G A AC110792.1 ENST00000511394 r.? - - intronic 57 0 0 37 8 21.6 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.078275449 1.078275449 1 1.114 1.114 1 NA NA 1 NA NA 1 4 NA 1 1 1.33E-11 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 54570290 C G C1orf83 CCDS587.1 r.? - - downstream 35 0 0 30 5 16.7 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 54622143 C G - - - - - - 56 0 0 42 10 23.8 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.4260998 1.4260998 1 1.243197519 1.243197519 1 NA NA 1 NA NA 0 4 NA 1 1 1.24E-14 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 54694593 C T WDR7 CCDS11962.1 r.4839c>u c.? p.? 3'UTR variant 18 0 0 35 10 28.6 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 1.543859649 1.543859649 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-15 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 54696159 G T - - - - - - 48 0 0 36 9 25 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 1.314175439 1.314175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 54740482 G A - - - - - - 50 0 0 48 18 37.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 2.42E-29 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 54785152 C A SPTBN1 CCDS33199.1 r.? - - upstream 23 0 0 42 4 9.5 7 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.759241517 0.759241517 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000601 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 54817364 G A - - - - - - 41 0 0 41 13 31.7 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.265469062 1.265469062 1 0.728070175 0.728070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.89E-20 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 54886365 G A UNC13C CCDS45264.1 r.? - - intronic 40 0 0 28 8 28.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.427716567 1.427716567 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 1.11E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 54920958 T C NCKAP1L CCDS31813.1 r.? - - intronic 54 0 0 49 23 46.9 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.341255489 1.170627745 2 2.697052632 1.348526316 2 NA NA 1 NA NA 1 4 NA 1 1 6.14E-40 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 54996244 A G - - - - - - 41 0 0 42 17 40.5 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.426766467 1.213383234 2 1.108517788 1.108517788 1 NA NA 1 NA NA 0 4 NA 1 1 1.73E-28 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 55092258 T C CACNA2D3 ENST00000474759 r.? - - intronic 54 0 0 39 14 35.9 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.919267409 0.959633704 2 1.812877193 1.812877193 1 NA NA 0 NA NA 1 4 NA 1 1 8.19E-23 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 55107279 G A EGFR CCDS5514.1 r.? - - intronic 44 0 0 71 12 16.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.519650699 1.519650699 1 1.685894737 1.685894737 1 NA NA 1 NA NA 0 4 NA 1 1 2.38E-15 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 55112999 C G C20orf107 CCDS33494.1 r.? - - downstream 35 0 0 41 21 51.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 4.091912176 1.363970725 3 3.402087719 1.13402924 3 NA NA 1 NA NA 0 4 NA 1 1 1.17E-37 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 55126536 C T - - - - - - 38 0 0 40 10 25 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-15 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 55132235 C G PDGFRA CCDS3495.1 r.? - - intronic 39 0 0 24 6 25 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.95E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 63894400 T C - - - - - - 39 0 0 89 55 61.8 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 5.557065868 1.111413174 5 4.585122807 1.146280702 4 NA NA 1 NA NA 0 4 NA 1 1 1.03E-102 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 55148899 T A - - - - - - 59 0 0 36 6 16.7 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.833666667 0.833666667 1 1.338718106 1.338718106 1 NA NA 0 NA NA 0 4 NA 1 1 2.68E-08 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 55179596 C G EGFR CCDS5514.1 r.? - - intronic 37 0 0 78 5 6.4 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.575489022 0.575489022 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000487 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 64894000 A G - - - - - - 63 0 0 67 21 31.3 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.814500998 0.938166999 3 2.184 1.092 2 NA NA 1 NA NA 0 4 NA 1 1 4.96E-32 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 64964907 G T - - - - - - 93 0 0 97 32 33 55 2 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.967365269 0.989121756 3 0.459789474 0.459789474 1 NA NA 1 NA NA 0 4 NA 1 1 7.52E-49 1 0.031164417 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 69064959 C T AUTS2 CCDS5539.1 r.? - - intronic 22 0 0 88 15 17 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.528642715 1.528642715 1 0.983438596 0.983438596 1 NA NA 1 NA NA 0 4 NA 1 1 6.87E-19 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 55269257 C A - - - - - - 25 0 0 26 17 65.4 17 5 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.720534823 4.32434803 5 2 1 2 0.279465177 0.67565197 5 3 2 2 0.720534823 0.32434803 5.698008217 1.139601643 5 3.262305689 1.403535807 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 2.28E-33 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 55271244 C T - - - - - - 48 0 0 43 14 32.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.627397206 0.813698603 2 1.436473684 1.436473684 1 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 55354828 A G - - - - - - 25 0 0 26 8 30.8 18 2 11.1 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.461540918 0.820513639 3 1.306684211 1.306684211 1 NA NA 1 NA NA 0 4 NA 1 1 5.63E-13 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 55461933 T A LANCL2 CCDS5517.1 r.? - - intronic 42 0 0 55 23 41.8 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.758662675 0.939665669 4 2.618245614 0.872748538 3 NA NA 1 NA NA 0 4 NA 1 1 1.91E-38 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 55472984 T A BSND CCDS602.1 r.? - - intronic 24 0 0 28 13 46.4 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.316295409 1.158147705 2 2.766403509 0.922134503 3 NA NA 0 NA NA 1 4 NA 1 1 4.26E-23 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 55484104 T C ANKRD55 CCDS34161.1 r.? - - intronic 40 0 0 37 5 13.5 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 55489435 C A - - - - - - 13 0 0 32 9 28.1 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.402756487 1.402756487 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 4.94E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 55491936 C G ANKRD55 CCDS34161.1 r.? - - intronic 54 0 0 46 21 45.7 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.738351297 1.369175649 2 1.292631579 1.292631579 1 NA NA 1 NA NA 1 4 NA 1 1 2.94E-36 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 75818073 G A AC006330.1 ENST00000514862 r.? - - intronic 41 0 0 63 16 25.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.377205361 6 3 4 3 2 0.622794639 1 4 NA 3 NA 0.377205361 NA 2.125782218 1.062891109 2 0.881263158 0.881263158 1 NA NA 0 NA NA 0 4 NA 1 1 4.48E-23 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 55650866 T C ERC2 CCDS46851.1 r.? - - intronic 43 0 0 60 19 31.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.694729161 1.029687671 1.645867197 2.224894737 1.112447368 2 NA NA 0 NA NA 1 4 NA 1 1 3.21E-29 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 55666138 A G - - - - - - 49 0 0 25 5 20 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.781754386 0.781754386 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000153 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 119953875 C T PRR16 CCDS4127.1 r.? - - intronic 62 0 0 31 19 61.3 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.447105788 1.223552894 2 1.140350877 1.140350877 1 NA NA 1 NA NA 1 4 NA 1 1 2.54E-36 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 55687507 C A - - - - - - 82 0 0 56 8 14.3 51 6 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 4.48E-10 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 55703764 A T BMP5 CCDS4958.1 r.? - - intronic 49 0 0 53 4 7.5 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.449401198 0.449401198 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 55732948 G T - - - - - - 44 0 0 57 19 33.3 51 10 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.111298246 1.055649123 2 NA NA 1 NA NA 1 4 NA 1 1 1.01E-29 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 55738324 G T SLC6A2 CCDS10754.1 r.? - - downstream 40 0 0 44 10 22.7 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.360187625 1.360187625 1 0.917474339 0.917474339 1 NA NA 0 NA NA 0 4 NA 1 1 2.08E-14 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 55750267 C A SAPS1 CCDS46186.1 r.? - - intronic 17 0 0 48 4 8.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 0.663337325 0.663337325 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 55795747 A T - - - - - - 50 0 0 47 8 17 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 55828731 C T - - - - - - 38 0 0 50 14 28 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.677764471 0.838882236 2 2.003578947 1.001789474 2 NA NA 1 NA NA 1 4 NA 1 1 4.84E-21 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 77925132 T C MAGI2 CCDS5594.1 r.? - - intronic 43 0 0 64 15 23.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.870131737 0.935065868 2 1.992421053 1.992421053 1 NA NA 1 NA NA 1 4 NA 1 1 3.87E-21 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 55892979 C T - - - - - - 37 0 0 31 9 29 25 4 16 0 0 NA 0 0 NA 1 1 100 0.01 TRUE FALSE 2.332612953 4.32434803 1 2 1 2 0.667387047 0.67565197 2 3 1 2 0.332612953 0.32434803 1.254142387 1.254142387 1 1.775404457 1.775404457 1 NA NA 0 11.09627785 11.09627785 1 4 NA 1 1 3.57E-14 1 0.00000727 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 55904166 C G - - - - - - 36 0 0 45 19 42.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.528630739 1.264315369 2 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 4.11E-32 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 55904757 C A - - - - - - 54 0 0 49 11 22.4 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.342211577 1.342211577 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.19E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 55908493 C T Sep-14 CCDS5519.2 r.? - - intronic 32 0 0 61 20 32.8 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.949381238 0.983127079 3 2.081824561 1.040912281 2 NA NA 1 NA NA 0 4 NA 1 1 4.89E-31 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 78363589 C T MAGI2 CCDS5594.1 r.? - - intronic 56 0 0 66 6 9.1 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.727273453 0.727273453 1 0.625824561 0.625824561 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000011 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 55998253 C A - - - - - - 44 0 0 44 12 27.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.362820359 1.362820359 1 1.260578947 1.260578947 1 NA NA 1 NA NA 1 4 NA 1 1 4.44E-18 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 56010839 G A COL21A1 ENST00000244728 r.? - - intronic 41 0 0 54 17 31.5 36 4 11.1 95 0 0 283 107 37.8 304 15 4.9 6.29E-07 TRUE TRUE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.88748503 0.943742515 2 1.149957705 1.149957705 1 2.264982036 1.132491018 2 0.507638987 0.863258934 0.588049503 4 3 1 1 3.02E-26 3.99E-167 0.0000324 7.42E-11 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 56042215 C G - - - - - - 68 0 0 45 16 35.6 40 13 32.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 3.500877193 1.750438596 2 NA NA 1 NA NA 1 4 NA 1 1 8.61E-26 1 1.30E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 56054713 A C - - - - - - 38 0 0 43 12 27.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.229772455 1.114886228 2 2.613368421 0.871122807 3 NA NA 1 NA NA 0 4 NA 1 1 3.24E-18 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 56113869 C T ZNF524 CCDS12929.1 r.474c>u c.391C>T p.R131C missense 14 0 0 48 7 14.6 12 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.166834331 1.166834331 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 4.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 56146370 C T - - - - - - 53 0 0 56 5 8.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000965 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 56268946 A T - - - - - - 42 0 0 55 12 21.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.742259481 0.871129741 2 0.728 0.728 1 NA NA 1 NA NA 1 4 NA 1 1 8.78E-17 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 56326638 G A - - - - - - 54 0 0 38 7 18.4 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 56410869 G T XKR4 CCDS34893.1 r.? - - intronic 9 0 0 34 13 38.2 19 6 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.9069501 0.95347505 2 2.968163049 1.484081525 2 NA NA 1 NA NA 0 4 NA 1 1 1.03E-21 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 79135425 G A - - - - - - 56 0 0 53 10 18.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.510491018 1.510491018 1 2.975859649 0.991953216 3 NA NA 1 NA NA 1 4 NA 1 1 1.57E-13 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 56444331 G A - - - - - - 32 0 0 34 6 17.6 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.70259481 0.70259481 1 0.298245614 0.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.86E-08 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 56445029 A T PCDH15 CCDS44404.1 r.? - - intronic 56 0 0 54 9 16.7 47 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.050302785 1.050302785 1 0.463192982 0.463192982 1 NA NA 0 NA NA 0 4 NA 1 1 8.48E-12 1 0.02328732 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 56457022 T C - - - - - - 53 0 0 43 13 30.2 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.332612953 4.32434803 1 2 1 2 0.667387047 0.67565197 2 3 1 2 0.332612953 0.32434803 1.306037934 1.306037934 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.88E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 56468800 G T - - - - - - 44 0 0 20 10 50 27 10 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.245614035 1.622807018 2 NA NA 1 NA NA 1 4 NA 1 1 1.72E-18 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 56483778 C T PCDH15 CCDS44404.1 r.? - - intronic 61 0 0 49 13 26.5 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.666648131 0.833324066 2 1.540385965 1.540385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.71E-19 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 56486556 G A - - - - - - 37 0 0 55 24 43.6 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.484518962 1.161506321 3 2.860578947 0.953526316 3 NA NA 1 NA NA 0 4 NA 1 1 1.28E-40 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 56512777 C A ZC3H10 CCDS8903.1 r.? - - intronic 32 0 0 37 6 16.2 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.808706587 0.808706587 1 0.439736842 0.439736842 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-08 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 80768759 A T - - - - - - 60 0 0 59 12 20.3 50 5 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.622379242 1.622379242 1 1.277192982 1.277192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.20E-16 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 56577820 C G - - - - - - 48 0 0 46 14 30.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.821572854 0.910786427 2 2.219017544 1.109508772 2 NA NA 1 NA NA 1 4 NA 1 1 1.26E-21 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 82939071 G T - - - - - - 51 0 0 57 26 45.6 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.732359281 1.366179641 2 2.100526316 1.050263158 2 NA NA 1 NA NA 1 4 NA 1 1 1.57E-44 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 56629434 G T - - - - - - 49 0 0 36 6 16.7 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 1.153087719 1.153087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-08 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 56650066 C A - - - - - - 26 0 0 67 8 11.9 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.614087045 5.626372055 5 3 3 2 0.385912955 0.373627945 6 3 3 3 0.614087045 0.626372055 1.262126259 1.262126259 1 0.446338868 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.96E-09 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 56674906 T G - - - - - - 44 0 0 54 9 16.7 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.501666667 1.501666667 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 8.48E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 56721259 G C TGS1 CCDS34894.1 r.? - - intronic 38 0 0 51 6 11.8 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.589057884 0.589057884 1 0.854755815 0.854755815 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000232 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 56726671 C G - - - - - - 29 0 0 41 18 43.9 23 7 30.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 3.50849501 0.877123752 4 4.490666667 0.898133333 5 NA NA 0 NA NA 1 4 NA 1 1 6.91E-31 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 56726776 A G - - - - - - 32 0 0 49 16 32.7 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.940389222 0.980129741 3 1.507087719 1.507087719 1 NA NA 1 NA NA 0 4 NA 1 1 4.37E-25 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 56749836 C T MT1A CCDS32454.1 r.? - - intronic 48 0 0 85 10 11.8 57 1 1.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.614087045 5.626372055 5 3 3 2 0.385912955 0.373627945 6 3 3 3 0.614087045 0.626372055 1.251520156 1.251520156 1 0.223169434 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.17E-11 1 0.248523156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 56779011 G T - - - - - - 24 0 0 53 7 13.2 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.186946108 1.186946108 1 0.549192982 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.85E-09 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 56817669 G C - - - - - - 37 0 0 50 14 28 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.332612953 4.32434803 1 2 1 2 0.667387047 0.67565197 2 3 1 2 0.332612953 0.32434803 1.210896098 1.210896098 1 0.821124561 0.821124561 1 NA NA 0 NA NA 0 4 NA 1 1 4.84E-21 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 56829107 C A PPM1E CCDS11613.1 r.? - - upstream 33 0 0 25 15 60 27 4 14.8 0 0 NA 0 0 NA 2 2 100 1.00E-04 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 1.298245614 1.298245614 1 NA NA 1 8.771929825 4.385964912 2 4 NA 1 1 9.52E-29 1 0.00001 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 56846917 C A - - - - - - 55 0 0 58 15 25.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.069932136 1.034966068 2 2.132912281 1.06645614 2 NA NA 1 NA NA 1 4 NA 1 1 7.42E-22 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 56854865 T C ARHGEF3 CCDS46854.1 r.? - - intronic 49 0 0 43 19 44.2 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.362997757 1.181498878 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 1.36E-32 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 56884077 A T - - - - - - 55 0 0 53 7 13.2 37 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.658946108 0.658946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.85E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 56900091 G A - - - - - - 53 0 0 57 17 29.8 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 8.82E-26 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 56940338 C T - - - - - - 36 0 0 32 8 25 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.498003992 1.498003992 1 1.958036093 1.958036093 1 NA NA 1 NA NA 0 4 NA 1 1 3.69E-12 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 56953118 C T ZNF667 CCDS12944.1 r.1408g>a c.1246G>A p.E416K missense 55 0 0 57 22 38.6 33 4 12.1 173 0 0 152 49 32.2 163 14 8.6 1.50E-09 TRUE TRUE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 3.408155517 1.0776444 3.16259753 1.787403509 1.787403509 1 2.843072737 0.947690912 3 1.270385965 1.270385965 1 4 3 1 1 7.03E-36 2.33E-73 0.0000228 1.84E-13 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 13 56965584 C A - - - - - - 53 0 0 50 13 26 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.557924152 1.557924152 1 0.269298246 0.269298246 1 NA NA 1 NA NA 1 4 NA 1 1 3.65E-19 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57005511 A G PCDH15 ENST00000373957 r.? - - intronic 61 0 0 49 16 32.7 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.056580902 1.028290451 2 2.488315789 1.244157895 2 NA NA 0 NA NA 0 4 NA 1 1 4.37E-25 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 57027741 C T - - - - - - 31 0 0 35 8 22.9 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 0.439736842 0.439736842 1 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 57046719 A T - - - - - - 53 0 0 52 5 9.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.767233533 0.767233533 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57146372 C T PCDH15 ENST00000373957 r.? - - intronic 45 0 0 45 5 11.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.698105444 0.698105444 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 57175939 T G - - - - - - 47 0 0 63 5 7.9 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.631369261 0.631369261 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000173 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57198642 T C PCDH15 ENST00000373957 r.? - - intronic 43 0 0 57 16 28.1 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.767275943 0.883637971 2 3.587052632 1.793526316 2 NA NA 1 NA NA 0 4 NA 1 1 7.28E-24 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 57220166 T A SDR16C5 CCDS6167.1 r.? - - intronic 38 0 0 34 6 17.6 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.87859481 0.87859481 1 1.08018592 1.08018592 1 NA NA 1 NA NA 0 4 NA 1 1 1.86E-08 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57242746 A G PCDH15 ENST00000373957 r.? - - intronic 47 0 0 53 17 32.1 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.018845472 1.009422736 2 1.486526316 1.486526316 1 NA NA 1 NA NA 0 4 NA 1 1 2.08E-26 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 57252300 C T AASDH CCDS3504.1 r.? - - intronic 32 0 0 44 18 40.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.041734531 1.020867265 2 3.35177193 1.675885965 2 NA NA 1 NA NA 1 4 NA 1 1 3.47E-30 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 84846299 C A - - - - - - 50 0 0 51 9 17.6 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.05459481 1.05459481 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.92E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 88111506 C T - - - - - - 53 0 0 52 5 9.6 43 2 4.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0.506280702 0.506280702 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000668 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 57315765 C T - - - - - - 49 0 0 51 18 35.3 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.115181637 1.057590818 2 2.628350877 1.314175439 2 NA NA 1 NA NA 1 4 NA 1 1 9.10E-29 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57337076 T A PCDH15 ENST00000373957 r.? - - intronic 68 0 0 62 6 9.7 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.610056108 0.610056108 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000756 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89035085 C A - - - - - - 49 0 0 39 15 38.5 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.306926148 1.153463074 2 1.195684211 1.195684211 1 NA NA 1 NA NA 1 4 NA 1 1 6.85E-25 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 57386627 A T - - - - - - 54 0 0 33 10 30.3 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.209580838 1.209580838 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 8.14E-16 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 57442173 A G DNAH12 CCDS46857.1 r.? - - intronic 40 0 0 49 6 12.2 34 0 0 115 0 0 245 21 8.6 254 0 0 1 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.65223015 0.65223015 1 0 0 1 0.459768794 1.298294849 0.354132803 0 0 1 3 2 1 1 0.000000182 1.97E-19 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 20 57457527 C A GNAS CCDS46622.1 r.? - - intronic 41 0 0 49 6 12.2 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 0.975025948 0.975025948 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89068281 C G - - - - - - 40 0 0 53 13 24.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.468043912 1.468043912 1 2.089754386 2.089754386 1 NA NA 1 NA NA 1 4 NA 1 1 8.53E-19 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 57469621 T C ZDHHC5 CCDS7965.1 r.? - - downstream 27 0 0 31 5 16.1 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.803714571 0.803714571 1 1.221491228 1.221491228 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000476 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 57485957 G T - - - - - - 10 0 0 67 26 38.8 12 2 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.488902196 0.872225549 4 2.132912281 2.132912281 1 NA NA 1 NA NA 0 4 NA 1 1 3.31E-42 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 57486462 G T - - - - - - 44 0 0 36 5 13.9 30 0 0 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 1.227289163 1.227289163 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 57487397 A T - - - - - - 34 0 0 48 9 18.8 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 1.659930666 1.659930666 1 1.920350877 1.920350877 1 NA NA 0 NA NA 1 4 NA 1 1 2.75E-12 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 57500484 A C PRIM2 ENST00000425433 r.? - - intronic 141 0 0 167 14 8.4 84 2 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.503329341 0.503329341 1 0.248639504 0.422820702 0.588049503 NA NA 1 NA NA 0 4 NA 1 1 2.57E-13 1 0.066590661 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57530166 T C - - - - - - 49 0 0 54 17 31.5 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.981110043 0.990555021 2 1.152596491 1.152596491 1 NA NA 0 NA NA 0 4 NA 1 1 3.02E-26 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 57535302 C T ENSG00000234857 ENST00000445014 r.? - - intronic 50 0 0 53 8 15.1 45 3 6.7 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.206794411 1.206794411 1 0.788719298 0.788719298 1 NA NA 1 NA NA 0 4 NA 1 1 2.83E-10 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89971769 C A GTPBP10 CCDS5617.1 r.? - - upstream 38 0 0 49 13 26.5 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 0.793942116 2 0.657087719 0.657087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.71E-19 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 57576519 G C - - - - - - 51 0 0 38 9 23.7 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.946107784 0.946107784 1 0.570175439 0.570175439 1 NA NA 1 NA NA 1 4 NA 1 1 2.79E-13 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 57597595 G T - - - - - - 29 0 0 24 9 37.5 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 3.289473684 1.644736842 2 NA NA 1 NA NA 1 4 NA 1 1 2.39E-15 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 57619790 T A - - - - - - 55 0 0 46 12 26.1 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.302916168 1.302916168 1 0.854755815 0.854755815 1 NA NA 1 NA NA 0 4 NA 1 1 8.12E-18 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 57655950 G C - - - - - - 32 0 0 38 10 26.3 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.1019002 1.0509501 2 1.532631579 1.532631579 1 NA NA 1 NA NA 1 4 NA 1 1 4.06E-15 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 57677679 C T - - - - - - 61 1 1.6 48 13 27.1 42 12 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.623836327 0.811918164 2 3.08077193 1.540385965 2 NA NA 1 NA NA 1 4 NA 0.263440347 1 2.00E-19 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92546973 A G - - - - - - 41 0 0 44 11 25 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 4 NA 2 NA 2 NA 1 NA NA NA NA NA NA NA NA 1 2.068210526 2.068210526 1 NA NA 1 NA NA 1 NA NA 1 1 3.22E-16 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 57740982 T C - - - - - - 43 0 0 47 5 10.6 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.635153693 0.635153693 1 0.280070175 0.280070175 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000402 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 57760652 C T MUDENG CCDS9729.1 r.? - - downstream 59 1 1.7 42 17 40.5 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.616766467 0.808383234 2 1.210526316 1.210526316 1 NA NA 1 NA NA 1 4 NA 0.256019138 1 1.73E-28 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 57762039 A T SLMAP CCDS33774.1 r.? - - intronic 47 0 0 32 5 15.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.833999208 0.833999208 1 2.060087719 1.03004386 2 NA NA 0 NA NA 1 4 NA 1 1 0.000000562 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 57776785 T C - - - - - - 47 0 0 37 9 24.3 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.97005988 0.97005988 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.14E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 57801820 A T - - - - - - 45 1 2.2 49 14 28.6 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 0.201934322 1 3.50E-21 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 57807929 A T - - - - - - 48 0 0 50 6 12 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.599041916 0.599041916 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 57808153 A T OR9Q1 CCDS31543.1 r.? - - intronic 33 0 0 41 20 48.8 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.436103792 1.218051896 2 1.631912281 1.631912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.32E-35 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 57827187 T G TMEM49 CCDS11619.1 r.? - - intronic 38 0 0 27 14 51.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.071856287 1.035928144 2 1.815789474 1.815789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-25 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 57855447 G A - - - - - - 42 0 0 43 13 30.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.809588822 0.904794411 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 57859831 T A - - - - - - 37 0 0 47 6 12.8 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.150978044 1.150978044 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 97899819 C T - - - - - - 10 0 0 34 5 14.7 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.880826347 0.880826347 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 57869930 A T - - - - - - 44 0 0 46 13 28.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.695740519 0.847870259 2 2.517474977 1.258737488 2 NA NA 1 NA NA 0 4 NA 1 1 1.07E-19 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 57896542 C T EDN3 CCDS13479.1 r.? - - intronic 38 0 0 60 23 38.3 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.060942116 1.020314039 3 2.425017544 0.808339181 3 NA NA 1 NA NA 0 4 NA 1 1 2.33E-37 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 57899531 T A - - - - - - 64 0 0 41 5 12.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 57904212 C T EDN3 CCDS13479.1 r.? - - downstream 46 0 0 48 19 39.6 49 9 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.164838323 1.054946108 3 2.166035088 1.083017544 2 NA NA 1 NA NA 0 4 NA 1 1 1.92E-31 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 57911733 A T - - - - - - 43 0 0 46 10 21.7 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.300267465 1.300267465 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.38E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 57924399 C T RAB3C CCDS3976.1 r.? - - intronic 47 0 0 48 13 27.1 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.623836327 0.811918164 2 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.00E-19 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 57934487 T C - - - - - - 57 0 0 64 12 18.8 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.182376787 1.182376787 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.30E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 99137097 C T - - - - - - 33 0 0 36 10 27.8 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.665780439 1.665780439 1 1.464982456 1.464982456 1 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 57951938 C T - - - - - - 48 0 0 57 8 14 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.118882236 1.118882236 1 1.315508772 1.315508772 1 NA NA 1 NA NA 1 4 NA 1 1 5.19E-10 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 57955644 G C IGFBP7 CCDS3512.1 r.? - - intronic 58 0 0 38 7 18.4 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 1.055368421 1.055368421 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 57956212 A G - - - - - - 38 0 0 70 10 14.3 47 5 10.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 1.353824561 1.353824561 1 NA NA 1 NA NA 1 4 NA 1 1 2.95E-12 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 57958344 A C - - - - - - 60 0 0 46 19 41.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.332612953 4.32434803 1 2 1 2 0.667387047 0.67565197 2 3 1 2 0.332612953 0.32434803 1.786071744 1.340277941 1.332612953 2.563240184 1.102778134 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 6.97E-32 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 57988913 C T ZNF772 CCDS33133.1 r.26g>a c.? p.? 5'UTR variant 30 0 0 61 8 13.1 32 0 0 300 0 0 166 36 21.7 142 1 0.7 0.76000752 TRUE TRUE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 1.156653815 1.156653815 1 0 0 1 1.915983801 0.957991901 2 0.103403509 0.103403509 1 3 2 1 1 9.09E-10 2.89E-47 1 0.509230612 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 57997063 T C FLNB CCDS2885.1 r.? - - intronic 24 0 0 46 9 19.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.047845159 1.047845159 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.82E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58044293 T A - - - - - - 22 0 0 18 5 27.8 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.387780439 1.387780439 1 1.277437262 1.277437262 1 NA NA 1 NA NA 0 4 NA 1 1 2.54E-08 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 58050205 G C - - - - - - 54 0 0 26 10 38.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.332612953 4.32434803 1 2 1 2 0.667387047 0.67565197 2 3 1 2 0.332612953 0.32434803 1.664982134 1.664982134 1 2.918321076 1.255543937 2.32434803 NA NA 0 NA NA 1 4 NA 1 1 4.82E-17 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 100125619 C T - - - - - - 22 0 0 44 12 27.3 30 11 36.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 0.81791018 2 3.953298246 1.976649123 2 NA NA 1 NA NA 1 4 NA 1 1 4.44E-18 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 58056430 T C - - - - - - 45 0 0 55 19 34.5 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.067245509 1.033622754 2 1.389578947 1.389578947 1 NA NA 1 NA NA 1 4 NA 1 1 4.51E-30 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 58058083 G T - - - - - - 18 0 0 42 6 14.3 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 58059709 A C FLNB CCDS2885.1 r.? - - intronic 41 0 0 47 11 23.4 54 9 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.250998813 1.250998813 1 1.965912281 0.98295614 2 NA NA 0 NA NA 1 4 NA 1 1 7.21E-16 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 58145277 C G - - - - - - 39 0 0 37 4 10.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.647137725 0.647137725 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 58202790 C G - - - - - - 48 0 0 53 7 13.2 37 0 0 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.054946108 1.054946108 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 9.85E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 113309579 T G - - - - - - 44 0 0 59 23 39 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.336886228 1.168443114 2 1.615789474 1.615789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.45E-37 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 58311467 A T - - - - - - 44 0 0 36 5 13.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.69389022 0.69389022 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 58320208 T G - - - - - - 45 0 0 43 19 44.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.779843298 1.21008896 2.297222263 2.219017544 1.109508772 2 NA NA 0 NA NA 0 4 NA 1 1 1.36E-32 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 58352471 C T - - - - - - 54 0 0 40 19 47.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 2.846207585 1.423103792 2 1.678316651 1.678316651 1 NA NA 1 NA NA 0 4 NA 1 1 2.27E-33 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 58363980 C A - - - - - - 47 0 0 60 22 36.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.308150431 1.004757123 2.297222263 2.035894737 1.017947368 2 NA NA 1 NA NA 0 4 NA 1 1 2.81E-35 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58400931 G A - - - - - - 43 0 0 30 11 36.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.83206986 0.91603493 2 2.592446208 1.296223104 2 NA NA 1 NA NA 0 4 NA 1 1 2.44E-18 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 58419405 A C - - - - - - 48 0 0 44 4 9.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545273453 0.545273453 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 58442757 A G - - - - - - 51 0 0 41 10 24.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 1.573280702 1.573280702 1 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 58452088 A G - - - - - - 45 0 0 51 5 9.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.587217565 0.587217565 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 58474782 C T - - - - - - 42 0 0 60 8 13.3 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.796938124 0.796938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.93E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 58476269 G C - - - - - - 63 0 0 46 13 28.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.695740519 0.847870259 2 2.256490942 0.950650647 2.373627945 NA NA 0 NA NA 1 4 NA 1 1 1.07E-19 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 58552472 G A ZSCAN1 CCDS12969.1 r.? - - intronic 17 0 0 51 26 51 26 10 38.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 4.503003403 1.081777273 4.16259753 5.687192982 1.137438596 5 NA NA 0 NA NA 1 4 NA 1 1 3.27E-46 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 114612254 C G MDFIC CCDS34737.1 r.? - - intronic 50 0 0 37 12 32.4 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.941413174 0.970706587 2 0.301614035 0.301614035 1 NA NA 1 NA NA 1 4 NA 1 1 4.03E-19 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 58591058 A G CNOT1 CCDS10799.1 r.? - - intronic 44 0 0 50 25 50 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.996007984 1.498003992 2 2.157304527 1.078652264 2 NA NA 0 NA NA 0 4 NA 1 1 3.34E-44 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 58596984 T C CDH26 ENST00000244047 r.? - - intronic 40 0 0 46 10 21.7 32 12 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.734267465 0.867133733 2 4.414473684 1.471491228 3 NA NA 1 NA NA 0 4 NA 1 1 3.38E-14 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 131942988 C T RAD50 CCDS34233.1 r.? - - intronic 60 0 0 33 16 48.5 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.936127745 0.968063872 2 0.833333333 0.833333333 1 NA NA 1 NA NA 1 4 NA 1 1 1.64E-28 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 58677611 A G - - - - - - 29 0 0 49 15 30.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.833556886 0.916778443 2 2.219296037 2.219296037 1 NA NA 0 NA NA 0 4 NA 1 1 4.10E-23 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 119386641 C A - - - - - - 58 0 0 51 8 15.7 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.940746507 0.940746507 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.05E-10 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58730323 G A - - - - - - 13 0 0 52 24 46.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.306311377 1.153155689 2 1.634368261 1.634368261 1 NA NA 1 NA NA 0 4 NA 1 1 2.22E-41 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 58740408 G C - - - - - - 51 0 0 33 4 12.1 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483033932 0.483033932 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58782495 C A - - - - - - 44 0 0 39 5 12.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.638978044 0.638978044 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 58790854 C A ZNF8 CCDS12974.1 r.? - - intronic 13 0 0 74 10 13.5 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 1.191971489 1.191971489 1 1.846491228 1.846491228 1 NA NA 0 NA NA 1 4 NA 1 1 5.24E-12 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 153544530 G T - - - - - - 38 0 0 50 34 68 23 11 47.8 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.714570858 1.357285429 2 4.192982456 2.096491228 2 NA NA 1 0 0 1 4 NA 1 1 2.65E-66 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 58844801 T A - - - - - - 42 0 0 51 4 7.8 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.623377246 0.623377246 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000129466 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 121319992 A G - - - - - - 58 0 0 33 6 18.2 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 0.269298246 0.269298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 58858111 T C - - - - - - 65 0 0 50 14 28 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.677764471 0.838882236 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.84E-21 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 58875661 C T - - - - - - 38 0 0 37 10 27 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.077844311 1.077844311 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 4 NA 1 1 3.01E-15 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58904729 C G FAM110B CCDS6170.1 r.? - - upstream 48 0 0 39 18 46.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.306311377 1.153155689 2 2.564267445 1.282133722 2 NA NA 1 NA NA 0 4 NA 1 1 2.15E-31 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 58915368 C T - - - - - - 40 0 0 55 13 23.6 42 2 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.886115768 0.943057884 2 0.565052632 0.565052632 1 NA NA 1 NA NA 0 4 NA 1 1 1.46E-18 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 58928406 A G KIAA0586 CCDS45115.1 r.? - - intronic 42 0 0 31 16 51.6 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.05988024 1.02994012 2 2.271929825 1.135964912 2 NA NA 1 NA NA 1 4 NA 1 1 4.27E-29 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 58946466 G C - - - - - - 33 0 0 46 7 15.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.214786427 1.214786427 1 3.213736842 1.071245614 3 NA NA 1 NA NA 0 4 NA 1 1 3.53E-09 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58951291 A G FAM110B CCDS6170.1 r.? - - intronic 26 0 0 30 5 16.7 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.833666667 0.833666667 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 58979856 G A MPEG1 CCDS41650.1 r.569c>u c.483C>T p.I161I silent 27 0 0 18 4 22.2 18 5 27.8 185 0 0 202 72 35.6 181 27 14.9 2.43E-23 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 2.716596491 1.358298246 2 1.777157685 0.888578842 2 1.456017544 0.728008772 2 4 3 1 1 0.00000181 9.01E-111 2.54E-08 3.83E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 13 59060759 A G - - - - - - 43 0 0 40 6 15 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.898802395 0.898802395 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59068662 C A AC106793.1 ENST00000500117 r.? - - intronic 47 0 0 52 5 9.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.575233533 0.575233533 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 59096637 G T - - - - - - 54 0 0 46 11 23.9 36 0 0 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.193091816 1.193091816 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 5.55E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59119335 T A AC106793.1 ENST00000500117 r.? - - intronic 44 0 0 59 20 33.9 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.031293413 1.015646707 2 0.347152453 0.347152453 1 NA NA 0 NA NA 1 4 NA 1 1 2.21E-31 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59119562 T C AC106793.1 ENST00000500117 r.? - - intronic 54 0 0 40 19 47.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.846207585 1.423103792 2 2.554050187 1.076011172 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 2.27E-33 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59119614 A G AC106793.1 ENST00000500117 r.? - - intronic 50 0 0 45 17 37.8 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.264982036 1.132491018 2 1.822550376 1.822550376 1 NA NA 0 NA NA 1 4 NA 1 1 7.37E-28 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59120231 G C AC106793.1 ENST00000500117 r.? - - intronic 62 0 0 30 12 40 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.396806387 1.198403194 2 2.888804338 0.962934779 3 NA NA 0 NA NA 1 4 NA 1 1 1.94E-20 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59120266 C A AC106793.1 ENST00000500117 r.? - - intronic 52 0 0 40 11 27.5 42 12 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.647804391 1.647804391 1 3.545914338 1.181971446 3 NA NA 0 NA NA 0 4 NA 1 1 9.88E-17 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 59131252 T A - - - - - - 43 0 0 52 4 7.7 55 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.61538523 0.61538523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000139698 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 59154256 T C FAM63B CCDS42046.1 r.? - - downstream 33 0 0 51 27 52.9 31 12 38.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 3.293619843 4 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 3.698776447 0.924694112 4 3.895367721 1.698349329 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 1.52E-48 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59174161 A C - - - - - - 46 0 0 58 6 10.3 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.617177645 0.617177645 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000506 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 59209944 T A - - - - - - 54 0 0 45 10 22.2 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 0.57654386 0.57654386 1 NA NA 1 NA NA 1 4 NA 1 1 2.66E-14 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 59210106 T G - - - - - - 44 0 0 32 7 21.9 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.093251497 1.093251497 1 1.837122807 1.837122807 1 NA NA 1 NA NA 1 4 NA 1 1 2.36E-10 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 59330016 G C - - - - - - 61 0 0 48 8 16.7 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.280070175 0.280070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-10 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 123745696 C G - - - - - - 46 0 0 58 11 19 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 0.323157895 0.323157895 1 NA NA 1 NA NA 1 4 NA 1 1 8.96E-15 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59358709 C A - - - - - - 41 1 2.4 50 16 32 32 13 40.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.91744511 0.958722555 2 5.033710563 1.677903521 3 NA NA 0 NA NA 0 4 NA 0.18577148 1 6.40E-25 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 59410111 C T - - - - - - 59 0 0 50 20 40 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 3.90E-33 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 59413981 G A - - - - - - 52 1 1.9 54 21 38.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.446513672 1.064987795 2.297222263 2.509859649 1.254929825 2 NA NA 0 NA NA 0 4 NA 0.229451111 1 2.12E-34 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 59448385 G T - - - - - - 41 0 0 49 6 12.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.609025948 0.609025948 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 59455804 T G - - - - - - 44 0 0 35 6 17.1 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.682634731 0.682634731 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-08 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 143149060 C G - - - - - - 37 0 0 28 14 50 27 10 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.245614035 1.622807018 2 NA NA 1 NA NA 1 4 NA 1 1 2.29E-25 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 59484713 T C - - - - - - 46 0 0 32 7 21.9 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.377343173 1.377343173 1 0.721719298 0.721719298 1 NA NA 1 NA NA 0 4 NA 1 1 2.36E-10 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59512405 T A - - - - - - 54 0 0 54 6 11.1 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.665113772 0.665113772 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 147015345 G A CNTNAP2 CCDS5889.1 r.? - - intronic 40 0 0 33 20 60.6 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.419161677 1.209580838 2 2.087719298 2.087719298 1 NA NA 1 NA NA 1 4 NA 1 1 5.14E-38 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 59530822 A G - - - - - - 57 0 0 60 16 26.7 37 6 16.2 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.679226608 0.839613304 2 1.745052632 1.745052632 1 0 0 1 NA NA 1 4 NA 1 1 1.86E-23 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 59571783 G T - - - - - - 41 0 0 38 8 21.1 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.053315369 1.053315369 1 0.294298246 0.294298246 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 59605206 C G - - - - - - 23 0 0 42 13 31 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.54752495 1.54752495 1 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 2.72E-20 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 59649545 A G - - - - - - 33 0 0 38 18 47.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.892215569 0.946107784 2 1.570175439 1.570175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 167070388 G A - - - - - - 34 0 0 33 14 42.4 46 9 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.54061477 1.270307385 2 2.111298246 1.055649123 2 NA NA 1 NA NA 1 4 NA 1 1 4.57E-24 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 149169836 G C ZNF746 CCDS5897.1 r.? - - downstream 54 0 0 30 5 16.7 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.666666667 0.666666667 1 1.192982456 1.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000401 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 59687010 G C - - - - - - 39 0 0 36 7 19.4 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 151364409 T G PRKAG2 CCDS43683.1 r.? - - intronic 56 0 0 36 7 19.4 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 0.622807018 0.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 5.74E-10 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 59733587 C T - - - - - - 58 0 0 36 10 27.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.387780439 1.387780439 1 2.69577193 0.898590643 3 NA NA 0 NA NA 1 4 NA 1 1 2.21E-15 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 59789017 A C ENSG00000212701 ENST00000391394 r.? - - downstream 64 0 0 44 18 40.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.617024881 5 4 3 3 2 0.382975119 1 5 NA 3 NA 0.617024881 NA 3.930097707 0.982524427 4 2.436789474 0.812263158 3 NA NA 1 NA NA 0 4 NA 1 1 3.47E-30 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 59837865 G T - - - - - - 49 0 0 62 9 14.5 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.158842315 1.158842315 1 1.456 1.456 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-11 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 59864490 G A - - - - - - 46 0 0 38 7 18.4 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 0.664491228 0.664491228 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 59873456 T A TOX CCDS34897.1 r.? - - intronic 37 0 0 45 17 37.8 43 11 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.886982036 0.943491018 2 2.404587787 1.202293893 2 NA NA 1 NA NA 0 4 NA 1 1 7.37E-28 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 59883181 A C FHIT CCDS2894.1 r.? - - intronic 39 0 0 40 12 30 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.603844631 1.603844631 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 1.20E-18 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 48686992 C G - - - - - - 60 0 0 34 6 17.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 1.05459481 1.05459481 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 59926368 C A GPR135 CCDS9738.1 r.? - - downstream 53 0 0 42 23 54.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.18762475 1.093812375 2 2.254385965 1.127192982 2 NA NA 1 NA NA 1 4 NA 1 1 4.86E-42 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 59942038 C T - - - - - - 55 0 0 76 22 28.9 51 7 13.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.309692615 1.154846307 2 1.749754386 1.749754386 1 NA NA 1 NA NA 1 4 NA 1 1 1.34E-32 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 59954605 T C DEPDC1B CCDS3977.1 r.? - - intronic 33 0 0 39 11 28.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.689748503 0.844874251 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 7.20E-17 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 59987671 A C MS4A4E ENST00000427611 r.? - - intronic 39 0 0 40 8 20 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.605859649 0.605859649 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 60016663 G T - - - - - - 61 0 0 57 6 10.5 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.839161677 0.839161677 1 0.332070175 0.332070175 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000456 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 77805756 T A - - - - - - 40 0 0 38 17 44.7 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.784431138 0.892215569 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 1.99E-29 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 60106547 C G ELOVL7 CCDS47029.1 r.? - - intronic 50 0 0 41 10 24.4 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.462051896 1.462051896 1 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 60153887 C A FHIT CCDS2894.1 r.? - - intronic 48 0 0 53 14 26.4 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.411383276 1.411383276 1 3.166649123 1.055549708 3 NA NA 0 NA NA 1 4 NA 1 1 1.22E-20 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60219741 G T - - - - - - 53 0 0 62 10 16.1 47 5 10.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.803714571 0.803714571 1 0.99564963 0.99564963 1 NA NA 1 NA NA 0 4 NA 1 1 8.29E-13 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 60222468 T C FHIT CCDS2894.1 r.? - - intronic 40 0 0 49 8 16.3 51 0 0 42 0 0 144 28 19.4 129 0 0 1 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.87142225 0.87142225 1 0 0 1 1.037152862 1.037152862 1 0 0 1 3 2 1 1 1.47E-10 1.14E-35 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 12 60224570 T A - - - - - - 55 0 0 31 13 41.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.091654691 1.045827345 2 1.895754386 1.895754386 1 NA NA 1 NA NA 1 4 NA 1 1 2.32E-22 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 60246504 T G - - - - - - 50 0 0 36 9 25 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 1.358298246 1.358298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 60246505 A G - - - - - - 51 0 0 36 9 25 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 1.319210526 1.319210526 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60271178 G T - - - - - - 31 0 0 57 8 14 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.698882236 0.698882236 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.19E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60271298 G C - - - - - - 38 0 0 71 7 9.9 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.494209581 0.494209581 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.85E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 60295351 T A - - - - - - 51 0 0 51 6 11.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.589057884 0.589057884 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000232 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 153161975 G A - - - - - - 47 0 0 42 10 23.8 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.9500998 0.9500998 1 0.228070175 0.228070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-14 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60353166 A C - - - - - - 53 0 0 69 25 36.2 50 11 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.80710978 0.90355489 2 2.066442629 1.033221315 2 NA NA 1 NA NA 0 4 NA 1 1 1.00E-39 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 60353772 A G DIAPH3 CCDS41898.1 r.? - - intronic 21 0 0 44 15 34.1 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.043277445 1.021638723 2 0.398561404 0.398561404 1 NA NA 1 NA NA 1 4 NA 1 1 6.12E-24 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 60405041 C T BICC1 CCDS31206.1 r.? - - intronic 18 0 0 49 16 32.7 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.056580902 1.028290451 2 1.432666667 1.432666667 1 NA NA 0 NA NA 1 4 NA 1 1 4.37E-25 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 60504429 G T - - - - - - 27 0 0 65 14 21.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.718283433 0.859141717 2 2.950315789 0.983438596 3 NA NA 1 NA NA 1 4 NA 1 1 2.93E-19 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 60506048 A G - - - - - - 47 1 2.1 36 11 30.6 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.527556886 1.527556886 1 0.875702821 0.875702821 1 NA NA 1 NA NA 0 4 NA 0.209895027 1 2.62E-17 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 60523403 G T FHIT CCDS2894.1 r.? - - intronic 36 0 0 35 4 11.4 20 1 5 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.60946096 0.60946096 1 0.588596491 0.588596491 1 0 NA 0 NA NA 1 4 NA 1 1 0.0000289 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 60593236 G T - - - - - - 52 0 0 59 6 10.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.611185629 0.611185629 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000561 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 60629582 C G ZSWIM6 CCDS47215.1 r.? - - intronic 20 0 0 40 8 20 10 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 82527794 G T - - - - - - 56 0 0 31 22 71 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.834331337 1.417165669 2 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 4.60E-44 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 60657442 A T - - - - - - 47 0 0 49 20 40.8 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.036742515 1.018371257 2 2.003245614 1.001622807 2 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 60686489 C A - - - - - - 49 0 0 40 7 17.5 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.873602794 0.873602794 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.26E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 60691236 C G - - - - - - 58 0 0 50 8 16 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.958722555 0.958722555 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60713180 G T - - - - - - 47 0 0 41 19 46.3 25 5 20 80 0 0 285 120 42.1 333 94 28.2 5.21E-105 TRUE TRUE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.311303393 1.155651697 2 1.878584208 1.878584208 1 2.101638723 1.050819361 2 2.648803734 1.324401867 2 4 3 1 1 4.20E-33 2.78E-194 0.000000153 8.65E-133 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 153184706 G T - - - - - - 61 0 0 35 18 51.4 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.051896208 1.025948104 2 1.166666667 1.166666667 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-32 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 60738025 C A PPM1A CCDS9744.1 r.? - - intronic 58 0 0 35 15 42.9 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 0.856287425 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 9.02E-26 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 60748679 T C - - - - - - 45 0 0 38 18 47.4 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.892215569 0.946107784 2 2.359649123 1.179824561 2 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 60825200 C T - - - - - - 16 0 0 28 4 14.3 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0.469052632 0.469052632 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000116 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 158294557 C A PTPRN2 CCDS5949.1 r.? - - intronic 17 0 0 32 5 15.6 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 0.000000562 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 60859494 G A - - - - - - 44 0 0 52 22 42.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.660347772 1.158071561 2.297222263 2.531403509 1.265701754 2 NA NA 1 NA NA 0 4 NA 1 1 5.59E-37 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 60876750 C T - - - - - - 46 0 0 36 8 22.2 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 1.055368421 1.055368421 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-11 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 60934773 G A - - - - - - 51 0 0 56 19 33.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.709293413 0.903097804 3 2.324491228 1.162245614 2 NA NA 1 NA NA 1 4 NA 1 1 6.79E-30 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 94976124 C A - - - - - - 60 0 0 31 5 16.1 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.642714571 0.642714571 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 60971284 C T RORA CCDS10177.1 r.? - - intronic 49 0 0 55 6 10.9 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.544129741 0.544129741 1 0.684457377 0.684457377 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000367 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 60975030 G T RORA CCDS10177.1 r.? - - intronic 32 0 0 63 18 28.6 39 5 12.8 216 1 0.5 478 141 29.5 292 34 11.6 2.47E-25 TRUE TRUE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.427716567 1.427716567 1 1.288390357 1.288390357 1 1.472644711 0.736322355 2 1.167603761 1.167603761 1 4 3 1 0.661323205 7.98E-27 2.21E-201 0.00000156 5.06E-35 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 61007941 A G FHIT CCDS2894.1 r.? - - intronic 50 0 0 49 8 16.3 52 3 5.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.87142225 0.87142225 1 0.68277193 0.68277193 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 0.002300591 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 61014942 C T FHIT CCDS2894.1 r.? - - intronic 52 0 0 50 10 20 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.069229754 1.069229754 1 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 8.36E-14 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 3539397 G T CSMD1 ENST00000318252 r.? - - intronic 55 0 0 28 10 35.7 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.068149701 1.068149701 1 2.742732944 1.371366472 2 NA NA 0 NA NA 0 4 NA 1 1 1.18E-16 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 61059180 G T VWCE CCDS8002.1 r.? - - intronic 27 0 0 39 18 46.2 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.306311377 1.153155689 2 1.045596491 1.045596491 1 NA NA 1 NA NA 1 4 NA 1 1 2.15E-31 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 61067613 G A - - - - - - 51 0 0 20 5 25 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 0.675438596 0.675438596 1 NA NA 1 NA NA 1 4 NA 1 1 4.55E-08 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 61102901 A G - - - - - - 48 0 0 60 7 11.7 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.935065868 0.935065868 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.39E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 61104496 T A - - - - - - 30 0 0 48 5 10.4 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.519169661 0.519169661 1 0.635175439 0.635175439 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000447 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 61220337 A G - - - - - - 53 0 0 46 12 26.1 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.563916168 1.563916168 1 0.570912281 0.570912281 1 NA NA 1 NA NA 1 4 NA 1 1 8.12E-18 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 61246617 T C - - - - - - 55 0 0 40 8 20 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 3.382385965 1.691192982 2 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 61248332 T G - - - - - - 28 0 0 25 5 20 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.529736842 0.529736842 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000153 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 61251597 T A PEX13 CCDS1866.1 r.? - - intronic 34 0 0 78 24 30.8 42 2 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.461540918 0.820513639 3 0.613052632 0.613052632 1 NA NA 1 NA NA 1 4 NA 1 1 3.63E-36 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 6248444 C T - - - - - - 48 0 0 17 5 29.4 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.879652695 0.879652695 1 1.737690393 1.737690393 1 NA NA 0 NA NA 0 4 NA 1 1 1.84E-08 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 96043091 T A MANEA CCDS5032.1 r.? - - intronic 60 0 0 32 21 65.6 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.618762475 1.309381238 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 5.84E-41 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 102660064 C T - - - - - - 64 0 0 41 20 48.8 47 14 29.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.948103792 0.974051896 2 2.614035088 1.307017544 2 NA NA 1 NA NA 1 4 NA 1 1 2.32E-35 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 17352482 T C SLC7A2 CCDS6002.2 r.? - - upstream 27 0 0 30 18 60 18 5 27.8 233 2 0.9 145 31 21.4 255 51 20 2.18E-49 TRUE TRUE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.795209581 1.795209581 1 2.61123205 1.305616025 2 0.640291417 0.640291417 1 1.878584208 0.939292104 2 4 3 1 0.324837233 3.12E-34 1.03E-40 2.54E-08 2.65E-64 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 13 61426901 A G - - - - - - 27 0 0 49 20 40.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.444742515 1.222371257 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 61432594 C T - - - - - - 58 0 0 53 22 41.5 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.21865174 1.10932587 2 1.35377193 1.35377193 1 NA NA 0 NA NA 1 4 NA 1 1 9.50E-37 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 61449393 T A - - - - - - 48 0 0 34 9 26.5 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.322884232 1.322884232 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 9.15E-14 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 61475541 G A DAGLA CCDS31578.1 r.? - - intronic 15 0 0 39 9 23.1 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.153155689 1.153155689 1 0.517912281 0.517912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.62E-13 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104167600 T A - - - - - - 65 0 0 29 10 34.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 61499632 C G - - - - - - 31 0 0 25 9 36 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 1.210526316 1.210526316 1 NA NA 1 NA NA 1 4 NA 1 1 3.71E-15 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 61554340 C T - - - - - - 56 0 0 55 8 14.5 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.868842315 0.868842315 1 0.807894737 0.807894737 1 NA NA 1 NA NA 1 4 NA 1 1 3.86E-10 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 108746173 A C LACE1 CCDS5067.1 r.? - - intronic 37 0 0 33 4 12.1 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483033932 0.483033932 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 61626098 T A - - - - - - 50 0 0 24 4 16.7 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 0.410421053 0.410421053 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000613 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 19383399 G A CSGALNACT1 CCDS6010.1 r.? - - intronic 38 0 0 23 7 30.4 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.909572854 0.909572854 1 1.878584208 1.878584208 1 NA NA 0 NA NA 0 4 NA 1 1 1.79E-11 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 165755377 A G PDE10A CCDS5289.1 r.? - - intronic 56 0 0 24 14 58.3 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.327345309 1.163672655 2 1.403508772 1.403508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.14E-26 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 61707672 G A - - - - - - 57 0 0 42 10 23.8 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.1880998 1.1880998 1 0.390877193 0.390877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-14 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 61738720 T A - - - - - - 206 0 0 169 12 7.1 122 5 4.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.638433134 0.638433134 1 0.523649123 0.523649123 1 NA NA 1 NA NA 0 4 NA 1 1 8.99E-11 1 0.000398828 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 61746219 T G - - - - - - 43 0 0 52 17 32.7 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.056580902 1.028290451 2 0.980245614 0.980245614 1 NA NA 0 NA NA 0 4 NA 1 1 1.42E-26 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 20216515 A C - - - - - - 40 0 0 21 6 28.6 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.855716567 0.855716567 1 0.666897394 0.666897394 1 NA NA 0 NA NA 1 4 NA 1 1 7.95E-10 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 61763063 T A CDH8 CCDS10802.1 r.? - - intronic 52 0 0 53 18 34 37 10 27 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.037285429 1.018642715 2 3.347541508 1.115847169 3 NA NA 0 NA NA 1 4 NA 1 1 2.09E-28 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 8103683 G C GLCCI1 CCDS34601.1 r.? - - intronic 46 0 0 47 5 10.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0.953153693 0.953153693 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 61798365 T C NFIA CCDS44156.1 r.? - - intronic 42 0 0 56 6 10.7 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.534145709 0.534145709 1 1.012385965 1.012385965 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000409 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 61810501 A T - - - - - - 63 0 0 60 5 8.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.497337325 0.497337325 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000136 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 24992244 G T - - - - - - 61 0 0 23 8 34.8 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.041221557 1.041221557 1 1.08018592 1.08018592 1 NA NA 0 NA NA 0 4 NA 1 1 1.79E-13 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 61857389 G C - - - - - - 51 0 0 43 20 46.5 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.321287425 1.160643713 2 3.351828039 1.461370353 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 8.21E-35 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 61879982 T A CDH8 CCDS10802.1 r.? - - intronic 36 0 0 57 5 8.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.527297405 0.527297405 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 27237209 C A PTK2B CCDS6057.1 r.? - - intronic 50 0 0 38 13 34.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.023269461 1.023269461 1 1.465295683 1.465295683 1 NA NA 0 NA NA 1 4 NA 1 1 5.88E-21 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 62023193 C A - - - - - - 48 0 0 36 7 19.4 34 3 8.8 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.968451098 0.968451098 1 0.826577052 0.826577052 1 NA NA 1 0 NA 0 4 NA 1 1 5.74E-10 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 62026546 A T - - - - - - 46 0 0 45 4 8.9 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0.533289421 0.533289421 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 62032322 C A - - - - - - 43 0 0 36 8 22.2 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 1.12377193 1.12377193 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-11 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 62032323 C A - - - - - - 44 0 0 35 8 22.9 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 1.045596491 1.045596491 1 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 27628155 C T ESCO2 CCDS34872.1 r.? - - upstream 28 0 0 25 12 48 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.436167665 1.436167665 1 0.854755815 0.854755815 1 NA NA 0 NA NA 1 4 NA 1 1 1.20E-21 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 62050136 T A - - - - - - 46 0 0 47 4 8.5 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.509321357 0.509321357 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 62071277 G T CDH8 CCDS10802.1 r.? - - upstream 33 0 0 59 10 16.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.012650699 1.012650699 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.91E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 62075279 C A - - - - - - 48 0 0 47 37 78.7 31 12 38.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 5 2 0 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 5.502716567 1.100543313 5 4.29425953 1.84751142 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 3.59E-76 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 34508168 G A - - - - - - 40 0 0 26 9 34.6 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.035237525 1.035237525 1 1.568617814 1.568617814 1 NA NA 0 NA NA 0 4 NA 1 1 5.65E-15 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 62128678 C G PTPRG CCDS2895.1 r.? - - intronic 40 0 0 43 12 27.9 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.491575507 1.491575507 1 0.941754386 0.941754386 1 NA NA 0 NA NA 1 4 NA 1 1 3.24E-18 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 62175987 T A - - - - - - 40 0 0 32 6 18.8 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.938499002 0.938499002 1 0.605859649 0.605859649 1 NA NA 1 NA NA 1 4 NA 1 1 1.27E-08 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 62212409 T C - - - - - - 55 0 0 36 4 11.1 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0.829438596 0.829438596 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000324 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 62228963 A G FAM19A2 CCDS8962.1 r.? - - intronic 42 0 0 40 9 22.5 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.123203593 1.123203593 1 0.283385965 0.283385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.64E-13 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 62250001 C T COMMD1 CCDS1869.1 r.? - - intronic 55 0 0 65 6 9.2 57 2 3.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.735265469 0.735265469 1 0.447017544 0.447017544 1 NA NA 1 NA NA 1 4 NA 1 1 0.000001 1 0.03327602 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 62294803 C T TEX2 CCDS11658.1 r.? - - intronic 26 0 0 38 12 31.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.261477046 1.261477046 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.86E-19 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 62306979 G A - - - - - - 57 0 0 42 6 14.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 1.637333333 1.637333333 1 NA NA 1 NA NA 1 4 NA 1 1 7.02E-08 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 62358940 G A - - - - - - 44 0 0 49 14 28.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.885087719 1.885087719 1 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 62374683 A T LPHN3 ENST00000512091 r.? - - intronic 45 0 0 42 6 14.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 62388418 C T - - - - - - 17 0 0 31 18 58.1 21 6 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.319361277 1.159680639 2 2.50877193 1.254385965 2 NA NA 1 NA NA 1 4 NA 1 1 7.40E-34 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 62410728 G C GANAB CCDS41656.1 r.? - - intronic 28 0 0 46 9 19.6 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 1.162859649 1.162859649 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 62459619 T C - - - - - - 59 0 0 38 16 42.1 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.522638723 1.261319361 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 3.06E-27 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 62474697 G A INADL CCDS617.2 r.? - - intronic 51 0 0 55 12 21.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.088259481 1.088259481 1 2.613368421 0.871122807 3 NA NA 0 NA NA 1 4 NA 1 1 8.78E-17 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 62481573 C A - - - - - - 57 0 0 22 10 45.5 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.816367265 0.908183633 2 2.271929825 1.135964912 2 NA NA 1 NA NA 1 4 NA 1 1 5.98E-18 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 62521641 T C - - - - - - 61 0 0 48 14 29.2 46 10 21.7 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.749668663 0.874834331 2 2.337508772 1.168754386 2 0 0 1 NA NA 1 4 NA 1 1 2.51E-21 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 62541676 C G LPHN3 ENST00000512091 r.? - - intronic 48 0 0 52 7 13.5 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.673922156 0.673922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.58E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 62575424 G C LPHN3 ENST00000512091 r.? - - intronic 54 0 0 48 21 43.8 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.186502994 1.093251497 2 2.442982456 1.221491228 2 NA NA 1 NA NA 1 4 NA 1 1 9.35E-36 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 62637736 C T KHDRBS2 CCDS4963.1 r.? - - intronic 46 0 0 31 5 16.1 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.642714571 0.642714571 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 39049049 T C ADAM32 CCDS47846.1 r.? - - intronic 44 0 0 29 11 37.9 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.133974052 1.133974052 1 1.822226682 1.822226682 1 NA NA 0 NA NA 1 4 NA 1 1 1.56E-18 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 62642233 T C - - - - - - 32 0 0 31 20 64.5 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.574850299 1.28742515 2 1.192982456 1.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 7.66E-39 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 62648569 C T - - - - - - 54 0 0 51 9 17.6 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.87859481 0.87859481 1 0.882894737 0.882894737 1 NA NA 0 NA NA 1 4 NA 1 1 4.92E-12 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 62687555 C T - - - - - - 45 0 0 77 25 32.5 50 7 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.59740519 0.86580173 3 1.788070175 1.788070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.69E-38 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 62701326 A C - - - - - - 32 0 0 47 6 12.8 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.766978044 0.766978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 43286375 C T - - - - - - 37 0 0 28 11 39.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.175862275 1.175862275 1 1.681332867 1.681332867 1 NA NA 0 NA NA 0 4 NA 1 1 9.70E-19 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 62732317 C T - - - - - - 51 0 0 22 11 50 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 3.27E-20 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 62759313 T C RHOBTB1 CCDS7261.1 r.? - - intronic 48 0 0 48 12 25 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.572309558 1.572309558 1 1.992807018 1.992807018 1 NA NA 1 NA NA 0 4 NA 1 1 1.44E-17 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60119161 C T - - - - - - 44 0 0 45 18 40 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.996806387 0.998403194 2 2.949377207 1.474688604 2 NA NA 1 NA NA 0 4 NA 1 1 5.76E-30 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 62773943 G A - - - - - - 23 0 0 36 16 44.4 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.617024881 5 4 3 3 2 0.382975119 1 5 NA 3 NA 0.617024881 NA 4.266414137 1.066603534 4 2.719315789 0.906438596 3 NA NA 0 NA NA 0 4 NA 1 1 1.01E-27 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 62833153 C T - - - - - - 44 0 0 83 18 21.7 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.951267465 0.975633733 2 1.941333333 1.941333333 1 NA NA 1 NA NA 0 4 NA 1 1 2.09E-24 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 62839445 C A KHDRBS2 CCDS4963.1 r.? - - intronic 57 0 0 40 25 62.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.49500998 1.24750499 2 1.543859649 1.543859649 1 NA NA 1 NA NA 1 4 NA 1 1 1.12E-47 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 62840379 A C - - - - - - 47 0 0 36 21 58.3 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.327345309 1.163672655 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.47E-39 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 10738427 A C - - - - - - 40 0 0 53 22 41.5 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.731686627 0.932921657 4 1.323868813 1.323868813 1 NA NA 1 NA NA 0 4 NA 1 1 9.50E-37 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 62866363 G A - - - - - - 50 0 0 35 11 31.4 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.678690714 1.019942993 1.645867197 1.600982456 1.600982456 1 NA NA 0 NA NA 1 4 NA 1 1 1.82E-17 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 62877808 C T - - - - - - 58 0 0 42 12 28.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 1.333333333 1.333333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-18 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 62952238 A G - - - - - - 63 0 0 32 12 37.5 25 10 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.872005988 0.936002994 2 3.757168417 1.878584208 2 NA NA 1 NA NA 0 4 NA 1 1 5.03E-20 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 62966189 C T - - - - - - 55 0 0 43 12 27.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.113772455 1.113772455 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.24E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 62972748 A T MON2 CCDS31849.1 r.? - - intronic 43 0 0 47 4 8.5 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.424321357 0.424321357 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 65879752 G T - - - - - - 38 0 0 32 9 28.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.402756487 1.402756487 1 2.188550603 1.094275301 2 NA NA 1 NA NA 0 4 NA 1 1 4.94E-14 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 67114567 C A - - - - - - 51 0 0 43 6 14 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.698882236 0.698882236 1 0.72325492 0.72325492 1 NA NA 1 NA NA 0 4 NA 1 1 8.13E-08 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 63067384 A T - - - - - - 49 0 0 27 5 18.5 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.738522954 0.738522954 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 63123786 G T - - - - - - 46 0 0 45 9 20 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.429964912 0.429964912 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-12 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 63146327 T C - - - - - - 59 0 0 63 17 27 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.698094322 0.849047161 2 0.829438596 0.829438596 1 NA NA 0 NA NA 1 4 NA 1 1 6.22E-25 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 63153409 G A EHBP1 CCDS1872.1 r.? - - intronic 58 0 0 91 17 18.7 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.494506986 1.494506986 1 0.894035088 0.894035088 1 NA NA 1 NA NA 1 4 NA 1 1 6.18E-22 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 63157779 A T EHBP1 CCDS1872.1 r.? - - intronic 45 0 0 66 9 13.6 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.086914172 1.086914172 1 0.306526316 0.306526316 1 NA NA 1 NA NA 1 4 NA 1 1 5.59E-11 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 63177250 C A - - - - - - 60 0 0 37 22 59.5 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.375249501 1.18762475 2 1.035087719 1.035087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-41 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 63202297 T A - - - - - - 50 0 0 49 11 22.4 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.118211577 1.118211577 1 0.244215947 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.19E-15 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 15652259 A G MEOX2 CCDS34605.1 r.? - - intronic 48 0 0 57 21 36.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 3.309061876 1.103020625 3 2.272641462 1.005455525 2.260310284 NA NA 1 NA NA 0 4 NA 1 1 8.56E-34 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 63236256 T C - - - - - - 47 0 0 42 17 40.5 41 13 31.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.021766467 1.010883234 2 2.97755597 1.488777985 2 NA NA 1 NA NA 0 4 NA 1 1 1.73E-28 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 63284023 G A OTX1 CCDS1873.1 r.1913g>a c.? p.? 3'UTR variant 12 0 0 54 10 18.5 8 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.478522954 1.478522954 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.91E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 63312860 G C - - - - - - 49 0 0 41 5 12.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.731025948 0.731025948 1 1.772957169 1.772957169 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000202 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 63314872 G A - - - - - - 38 0 0 49 15 30.6 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.924506899 0.962253449 2 0.937157895 0.937157895 1 NA NA 0 NA NA 1 4 NA 1 1 4.10E-23 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 63319316 C G - - - - - - 56 0 0 50 9 18 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.898562874 0.898562874 1 0.908789474 0.908789474 1 NA NA 1 NA NA 1 4 NA 1 1 4.07E-12 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 63340125 C T - - - - - - 55 0 0 42 6 14.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 63340767 G C - - - - - - 55 0 0 52 6 11.5 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574081836 0.574081836 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000261 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 70392688 C G SULF1 CCDS6204.1 r.? - - intronic 53 0 0 31 5 16.1 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.803714571 0.803714571 1 0.779612447 0.779612447 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000476 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 63350846 A G - - - - - - 44 0 0 37 10 27 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.617844311 1.617844311 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.01E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 63387742 A C - - - - - - 74 0 0 48 14 29.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.749668663 0.874834331 2 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-21 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 18748411 G T HDAC9 CCDS47554.1 r.? - - intronic 38 0 0 66 18 27.3 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.505836279 4.260310284 5 2 2 2 0.494163721 0.739689716 6 3 2 2 0.505836279 0.260310284 2.592913663 1.03474983 2.505836279 2.625673146 1.161642791 2.260310284 NA NA 0 NA NA 0 4 NA 1 1 2.08E-26 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 63456583 A G C10orf107 CCDS7262.1 r.? - - intronic 62 0 0 58 23 39.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.496827578 1.086889857 2.297222263 2.305192982 1.152596491 2 NA NA 0 NA NA 0 4 NA 1 1 8.87E-38 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 63494506 T C RTN3 CCDS8050.1 r.? - - intronic 25 0 0 27 4 14.8 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.738818363 0.738818363 1 0.420192982 0.420192982 1 NA NA 1 NA NA 1 4 NA 1 1 0.00001 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 63516585 G T - - - - - - 59 0 0 44 20 45.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.726367265 1.363183633 2 3.75668547 1.25222849 3 NA NA 0 NA NA 1 4 NA 1 1 1.50E-34 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 63589252 A T - - - - - - 52 0 0 33 5 15.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.910786427 0.910786427 1 2.752423017 0.917474339 3 NA NA 0 NA NA 0 4 NA 1 1 0.00000066 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 76384490 T C HNF4G ENST00000354370 r.? - - intronic 51 0 0 48 13 27.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.352836327 1.352836327 1 1.484081525 1.484081525 1 NA NA 1 NA NA 0 4 NA 1 1 2.00E-19 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 63655537 T G - - - - - - 44 0 0 70 8 11.4 54 6 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.02508982 1.02508982 1 1.417684211 1.417684211 1 NA NA 1 NA NA 0 4 NA 1 1 2.80E-09 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 63677119 T G - - - - - - 45 0 0 47 16 34 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.697285429 0.848642715 2 1.465789474 1.465789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.98E-25 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 63741709 G C RHOJ CCDS9757.1 r.? - - intronic 43 0 0 32 9 28.1 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.121756487 1.121756487 1 0.333333333 0.333333333 1 NA NA 1 NA NA 1 4 NA 1 1 4.94E-14 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 63785601 T A - - - - - - 53 0 0 43 6 14 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.698882236 0.698882236 1 0.263842105 0.263842105 1 NA NA 1 NA NA 1 4 NA 1 1 8.13E-08 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 63799861 C G - - - - - - 40 0 0 46 14 30.4 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.821572854 0.910786427 2 2.897649123 1.448824561 2 NA NA 1 NA NA 1 4 NA 1 1 1.26E-21 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 63853631 C A ARID5B CCDS31208.1 r.4819c>a c.? p.? 3'UTR variant 47 0 0 51 6 11.8 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.742130111 0.742130111 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000232 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 76522962 A G - - - - - - 44 0 0 34 13 38.2 38 17 44.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.9069501 0.95347505 2 4.198635706 2.099317853 2 NA NA 1 NA NA 0 4 NA 1 1 1.03E-21 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 63879132 C T RGS7BP CCDS34170.1 r.? - - intronic 31 0 0 46 6 13 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 77504538 G T - - - - - - 37 0 0 42 18 42.9 40 15 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.14157485 1.070787425 2 3.522345391 1.761172695 2 NA NA 1 NA NA 0 4 NA 1 1 1.20E-30 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 63905128 A C RGS7BP CCDS34170.1 r.1149a>c c.? p.? 3'UTR variant 51 0 0 46 6 13 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 1.432666667 1.432666667 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000123 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 63975904 T G TTPA CCDS6178.1 r.? - - intronic 49 0 0 47 11 23.4 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.168131737 1.168131737 1 0.300573473 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.21E-16 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 63979007 G T - - - - - - 38 0 0 41 8 19.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973443114 0.973443114 1 1.524421053 1.524421053 1 NA NA 1 NA NA 1 4 NA 1 1 3.22E-11 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 63982235 G A - - - - - - 52 0 0 65 20 30.8 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.18E-30 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 64006786 C T VEGFB CCDS8062.1 r.? - - downstream 28 0 0 59 9 15.3 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.763778443 0.763778443 1 0.57654386 0.57654386 1 NA NA 1 NA NA 1 4 NA 1 1 1.96E-11 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 64019336 A T CCDC46 CCDS32710.1 r.? - - intronic 59 0 0 37 12 32.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.293413174 1.293413174 1 1.5 1.5 1 NA NA 1 NA NA 1 4 NA 1 1 4.03E-19 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 64020724 G A LGSN CCDS4964.1 r.? - - intronic 47 0 0 34 22 64.7 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.582834331 1.291417166 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 1.23E-42 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 78401333 T C - - - - - - 46 0 0 49 7 14.3 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.713858283 0.713858283 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.58E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 64061185 C A - - - - - - 37 0 0 54 6 11.1 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.998113772 0.998113772 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 64117187 G T - - - - - - 32 0 0 42 6 14.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 1.182403509 1.182403509 1 NA NA 1 NA NA 1 4 NA 1 1 7.02E-08 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 82824052 A G - - - - - - 46 0 0 40 6 15 30 0 0 116 0 0 305 24 7.9 240 2 0.8 0.693089881 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.748802395 0.748802395 1 0 NA 0 0.394369261 0.394369261 1 0.075143368 NA 0 NA NA 1 1 5.18E-08 4.13E-21 1 0.33755348 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 5 64131589 G A CWC27 CCDS3982.2 r.? - - intronic 55 0 0 50 15 30 39 17 43.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.79760479 0.898802395 2 4.696561404 2.348280702 2 NA NA 1 NA NA 1 4 NA 1 1 5.83E-23 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 64153677 G T - - - - - - 51 0 0 54 6 11.1 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 64156353 T G CWC27 CCDS3982.2 r.? - - intronic 44 0 0 37 13 35.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.103197605 1.051598802 2 2.240561404 2.240561404 1 NA NA 1 NA NA 1 4 NA 1 1 3.89E-21 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 64160277 C G ZC4H2 CCDS14380.1 r.? - - intronic 45 0 0 59 39 66.1 32 11 34.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4 5 4 0 0 1 1 NA NA NA NA NA NA 4.621722555 0.924344511 5 3.70554386 0.926385965 4 NA NA 1 NA NA 0 4 NA 1 1 4.61E-75 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 64162490 C G - - - - - - 24 0 0 43 21 48.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.436103792 1.218051896 2 1.681332867 1.681332867 1 NA NA 1 NA NA 0 4 NA 1 1 4.52E-37 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 64165260 T G - - - - - - 43 0 0 42 20 47.6 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.852199601 1.4260998 2 1.755824561 1.755824561 1 NA NA 1 NA NA 1 4 NA 1 1 4.41E-35 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 64190135 T A - - - - - - 52 0 0 40 16 40 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.996806387 0.998403194 2 2.028870945 1.014435473 2 NA NA 1 NA NA 0 4 NA 1 1 8.56E-27 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 64195828 G A - - - - - - 48 0 0 60 8 13.3 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.195938124 1.195938124 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.93E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 64218765 A C VPS54 CCDS33208.1 r.? - - intronic 41 0 0 62 9 14.5 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.158842315 1.158842315 1 0.370385965 0.370385965 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-11 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 64222250 G A ZC4H2 ENST00000337990 r.? - - intronic 8 0 0 23 6 26.1 2 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4 5 4 0 0 1 1 NA NA NA NA NA NA 1.824916168 1.824916168 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.47E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 64222263 G A ZC4H2 ENST00000337990 r.? - - intronic 11 0 0 29 6 20.7 4 0 0 0 0 NA 0 0 NA 1 0 0 1 FALSE FALSE 5 4 5 4 0 0 1 1 NA NA NA NA NA NA 1.447347305 1.447347305 1 0 NA 0 NA NA 1 0 NA 0 NA NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 64248729 A T - - - - - - 57 0 0 57 19 33.3 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.995341317 0.997670659 2 1.611779244 1.611779244 1 NA NA 0 NA NA 1 4 NA 1 1 1.01E-29 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 64264851 T C - - - - - - 36 0 0 70 10 14.3 42 2 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 0.613052632 0.613052632 1 NA NA 1 NA NA 1 4 NA 1 1 2.95E-12 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 64290614 G A ROR1 CCDS626.1 r.? - - intronic 48 0 0 31 13 41.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.091654691 1.045827345 2 4.03777193 1.345923977 3 NA NA 0 NA NA 1 4 NA 1 1 2.32E-22 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 64331774 T C - - - - - - 23 0 0 36 9 25 13 3 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 2.488315789 2.488315789 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 64331775 G A - - - - - - 22 0 0 37 9 24.3 13 3 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.45605988 1.45605988 1 2.488315789 2.488315789 1 NA NA 1 NA NA 1 4 NA 1 1 2.14E-13 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 64368171 T G ZNF365 CCDS7264.1 r.? - - intronic 10 0 0 48 13 27.1 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.704383561 0.85219178 2 2.154385965 1.077192982 2 NA NA 0 NA NA 1 4 NA 1 1 2.00E-19 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 64431686 T C - - - - - - 26 0 0 41 12 29.3 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.56642159 1.56642159 1 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.69E-18 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 87206015 C T - - - - - - 32 0 0 32 12 37.5 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.872005988 0.936002994 2 1.17411513 1.17411513 1 NA NA 1 NA NA 0 4 NA 1 1 5.03E-20 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 64464585 T C - - - - - - 33 0 0 66 9 13.6 46 3 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.086914172 1.086914172 1 0.830175439 0.830175439 1 NA NA 1 NA NA 1 4 NA 1 1 5.59E-11 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 89130693 A G MMP16 CCDS6246.1 r.? - - intronic 52 0 0 42 16 38.1 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.901958084 0.950979042 2 2.460945313 1.230472657 2 NA NA 1 NA NA 0 4 NA 1 1 2.25E-26 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 64530811 T C - - - - - - 70 0 0 42 21 50 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.496007984 1.248003992 2 2.140052632 1.070026316 2 NA NA 1 NA NA 1 4 NA 1 1 2.32E-37 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 64566161 G A ADAMTS9 CCDS2903.1 r.? - - intronic 36 0 0 37 10 27 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.443460168 1.443460168 1 1.35377193 1.35377193 1 NA NA 0 NA NA 1 4 NA 1 1 3.01E-15 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 64593573 C T - - - - - - 43 0 0 62 15 24.2 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.208067864 1.208067864 1 1.070792999 1.070792999 1 NA NA 1 NA NA 0 4 NA 1 1 2.28E-21 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 64622757 T C - - - - - - 51 0 0 39 10 25.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.277956088 1.277956088 1 1.846894737 1.846894737 1 NA NA 1 NA NA 1 4 NA 1 1 5.44E-15 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 64705423 T G - - - - - - 54 0 0 42 9 21.4 42 2 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.068291417 1.068291417 1 0.45086021 0.45086021 1 NA NA 1 NA NA 0 4 NA 1 1 7.51E-13 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 64714207 T A - - - - - - 52 0 0 49 14 28.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.713716567 0.856858283 2 1.822550376 1.822550376 1 NA NA 0 NA NA 1 4 NA 1 1 3.50E-21 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 64718006 A G - - - - - - 55 0 0 30 5 16.7 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 0.322473684 0.322473684 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000401 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 64753473 A G - - - - - - 61 0 0 55 7 12.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.798733255 0.798733255 1 1.454210526 1.454210526 1 NA NA 0 NA NA 0 4 NA 1 1 1.28E-08 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 64800665 G A ZNF609 CCDS32270.1 r.? - - intronic 45 0 0 44 13 29.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.472644711 1.472644711 1 2.687501761 1.171729382 2.293619843 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 64809674 C T - - - - - - 42 0 0 25 15 60 23 7 30.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 2.666666667 1.333333333 2 NA NA 1 NA NA 1 4 NA 1 1 9.52E-29 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 64823072 C T - - - - - - 53 0 0 36 5 13.9 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.55489022 0.55489022 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 64832304 A G ZNF609 CCDS32270.1 r.? - - intronic 33 0 0 32 11 34.4 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.717253493 0.858626747 2 2.42579747 1.057628394 2.293619843 NA NA 1 NA NA 1 4 NA 1 1 5.72E-18 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 64872681 T C SERTAD2 CCDS33210.1 r.? - - intronic 40 0 0 79 17 21.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.718283433 0.859141717 2 3.525052632 0.881263158 4 NA NA 1 NA NA 1 4 NA 1 1 4.55E-23 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 64879295 G A - - - - - - 79 0 0 47 6 12.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.766978044 0.766978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 100269892 C A VPS13B CCDS6280.1 r.? - - intronic 64 0 0 43 7 16.3 66 4 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.813698603 0.813698603 1 0.572968184 0.572968184 1 NA NA 1 NA NA 0 4 NA 1 1 2.15E-09 1 0.000351793 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 64918345 T G - - - - - - 67 0 0 61 4 6.6 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.527473054 0.527473054 1 0.689684211 0.689684211 1 NA NA 1 NA NA 1 4 NA 1 1 0.000259828 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 101389347 T C - - - - - - 64 0 0 43 21 48.8 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.436103792 1.218051896 2 1.70951163 1.70951163 1 NA NA 1 NA NA 0 4 NA 1 1 4.52E-37 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 103090027 C T NCALD CCDS6292.1 r.? - - intronic 40 0 0 53 9 17 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.848642715 0.848642715 1 0.873541657 0.873541657 1 NA NA 1 NA NA 0 4 NA 1 1 7.10E-12 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 64979293 G C - - - - - - 35 0 0 36 9 25 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.654719298 0.654719298 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 65064117 G C CACHD1 CCDS628.2 r.? - - intronic 49 0 0 48 7 14.6 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.728834331 0.728834331 1 0.718087719 0.718087719 1 NA NA 0 NA NA 1 4 NA 1 1 4.81E-09 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 65064982 C A - - - - - - 35 0 0 42 7 16.7 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.833666667 0.833666667 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 65104701 T G - - - - - - 49 0 0 42 17 40.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.426766467 1.213383234 2 2.833017544 1.416508772 2 NA NA 1 NA NA 1 4 NA 1 1 1.73E-28 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65116157 G T EYS CCDS47445.1 r.? - - intronic 59 0 0 35 20 57.1 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 2.842105263 1.421052632 2 NA NA 1 NA NA 1 4 NA 1 1 2.88E-37 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 107610813 C T OXR1 CCDS47909.1 r.? - - intronic 62 0 0 57 14 24.6 47 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.228035928 1.228035928 1 0.197251342 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.84E-20 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 65142775 C T CDH11 CCDS10803.1 r.? - - intronic 21 0 0 41 11 26.8 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.605860279 1.605860279 1 2.157304527 2.157304527 1 NA NA 0 NA NA 1 4 NA 1 1 1.34E-16 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 112487806 G T - - - - - - 50 0 0 32 16 50 28 11 39.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.496007984 1.248003992 2 3.69141797 1.845708985 2 NA NA 1 NA NA 0 4 NA 1 1 8.51E-29 1 9.70E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 65187238 T C TECRL CCDS33990.1 r.? - - intronic 46 0 0 35 4 11.4 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.56908982 0.56908982 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 65222081 T C - - - - - - 47 0 0 36 8 22.2 27 1 3.7 142 0 0 338 81 24 307 33 10.7 1.60E-23 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.186845027 1.186845027 1 0.435561404 0.435561404 1 1.283075705 0.779574262 1.645867197 1.259596491 1.259596491 1 4 3 1 1 1.04E-11 4.01E-108 0.126579904 7.07E-33 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 18 65305300 C A AC114689.1 ENST00000500778 r.? - - intronic 30 0 0 27 16 59.3 16 1 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.367265469 1.183632735 2 0.543859649 0.543859649 1 NA NA 1 NA NA 1 4 NA 1 1 1.89E-30 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65387347 A T EYS CCDS47445.1 r.? - - intronic 62 0 0 34 7 20.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.822355289 0.822355289 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65433271 G A EYS CCDS47445.1 r.? - - intronic 48 0 0 27 13 48.1 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.920159681 0.96007984 2 1.184210526 1.184210526 1 NA NA 1 NA NA 1 4 NA 1 1 2.29E-23 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 65435837 G A - - - - - - 40 0 0 47 7 14.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.892810379 0.892810379 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-09 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65467724 C A EYS CCDS47445.1 r.? - - intronic 26 0 0 28 6 21.4 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 1.385964912 1.385964912 1 NA NA 1 NA NA 1 4 NA 1 1 5.36E-09 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 65533111 G C AC099680.1 ENST00000500320 r.? - - intronic 17 0 0 12 6 50 0 0 NA 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.496007984 1.248003992 2 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1.41E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 121677521 G A SNTB1 CCDS6334.1 r.? - - intronic 42 0 0 21 6 28.6 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.427716567 1.427716567 1 1.042614236 1.042614236 1 NA NA 1 NA NA 0 4 NA 1 1 7.95E-10 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 128849493 G T PVT1 CCDS3617.1 r.? - - intronic 23 0 0 34 15 44.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.201479042 1.100739521 2 2.564267445 1.282133722 2 NA NA 1 NA NA 0 4 NA 1 1 5.18E-26 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 65560713 T A OVOL1 CCDS8112.1 r.? - - intronic 15 0 0 32 8 25 12 1 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 3.69E-12 1 0.058377193 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 65562234 G A EYS CCDS47445.1 r.? - - intronic 41 0 0 39 6 15.4 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.614770459 0.614770459 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 65566167 G A SPRED2 CCDS33211.1 r.? - - intronic 13 0 0 27 8 29.6 5 2 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.773636727 1.773636727 1 4.30877193 4.30877193 1 NA NA 1 NA NA 1 4 NA 1 1 7.97E-13 1 0.000247509 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 65572895 C T - - - - - - 41 0 0 50 6 12 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.599041916 0.599041916 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 65605967 C A - - - - - - 50 0 0 43 4 9.3 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.557257485 0.557257485 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 65641054 G T AC008267.2 ENST00000418858 r.? - - intronic 17 0 0 54 16 29.6 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.661636727 0.887212242 3 2.19677193 2.19677193 1 NA NA 1 NA NA 0 4 NA 1 1 2.69E-24 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 65659023 C T MAGI1 CCDS33781.1 r.? - - intronic 72 0 0 53 5 9.4 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.502537985 0.502537985 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 129615475 G T - - - - - - 46 0 0 38 13 34.2 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.707269461 0.853634731 2 0.225430105 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.88E-21 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 65680415 C A - - - - - - 39 0 0 49 8 16.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.976698603 0.976698603 1 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-10 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 65687196 C A MSRB3 CCDS31853.1 r.? - - intronic 45 0 0 44 8 18.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.90E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 65724916 A T - - - - - - 44 0 0 39 13 33.3 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 0.333333333 0.333333333 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 136520130 C A KHDRBS3 CCDS6374.1 r.? - - intronic 46 0 0 49 10 20.4 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.018371257 1.018371257 1 1.08018592 1.08018592 1 NA NA 1 NA NA 0 4 NA 1 1 6.72E-14 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 65764260 A G - - - - - - 59 0 0 32 4 12.5 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.624001996 0.624001996 1 0.332245614 0.332245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000201 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 65770049 T G - - - - - - 44 0 0 37 19 51.4 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 3.079896208 1.539948104 2 2.596035088 1.298017544 2 NA NA 1 NA NA 1 4 NA 1 1 3.09E-34 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138957624 A C - - - - - - 37 0 0 46 7 15.2 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.758786427 0.758786427 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 65833806 A T - - - - - - 62 0 0 48 14 29.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.749668663 0.874834331 2 1.594245614 1.594245614 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-21 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 65846499 G A AC092373.1 ENST00000510964 r.? - - intronic 62 0 0 46 18 39.1 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.342878244 1.171439122 2 1.389578947 1.389578947 1 NA NA 1 NA NA 1 4 NA 1 1 9.41E-30 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 65881195 A T - - - - - - 36 0 0 51 18 35.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.762181637 0.881090818 2 2.071649123 1.035824561 2 NA NA 1 NA NA 1 4 NA 1 1 9.10E-29 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 65948656 C T - - - - - - 55 0 0 34 7 20.6 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.234355289 1.234355289 1 1.400350877 1.400350877 1 NA NA 1 NA NA 1 4 NA 1 1 3.73E-10 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139560591 C A - - - - - - 50 0 0 49 19 38.8 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.936902196 0.968451098 2 2.517302839 1.25865142 2 NA NA 1 NA NA 0 4 NA 1 1 3.12E-31 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 65961663 G A AC008267.2 ENST00000418858 r.? - - intronic 34 0 0 70 11 15.7 32 5 15.6 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.411746507 1.411746507 1 1.992421053 1.992421053 1 NA NA 1 NA NA 0 4 NA 1 1 8.06E-14 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 140429689 A T - - - - - - 47 0 0 38 9 23.7 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.183107784 1.183107784 1 0.751433683 0.751433683 1 NA NA 1 NA NA 0 4 NA 1 1 2.79E-13 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 65995163 C A MAGI1 CCDS33781.1 r.? - - intronic 23 0 0 49 9 18.4 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.983691374 0.983691374 1 0.388473684 0.388473684 1 NA NA 0 NA NA 1 4 NA 1 1 3.35E-12 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 66129421 T A - - - - - - 49 0 0 47 5 10.6 33 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.635153693 0.635153693 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 66137919 T A - - - - - - 50 0 0 53 8 15.1 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.904794411 0.904794411 1 0.667859649 0.667859649 1 NA NA 1 NA NA 1 4 NA 1 1 2.83E-10 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 66143580 G T - - - - - - 33 0 0 42 8 19 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-11 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 66154957 T A - - - - - - 37 0 0 38 16 42.1 36 10 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.101638723 1.050819361 2 2.798222808 1.220002877 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 3.06E-27 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 140643540 G A KCNK9 CCDS6377.1 r.? - - intronic 16 0 0 44 13 29.5 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.472644711 1.472644711 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.49E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 66188943 T C MAST4 CCDS47225.1 r.? - - intronic 31 0 0 54 11 20.4 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.222371257 1.222371257 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 3.84E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 66274298 G A - - - - - - 41 0 0 39 18 46.2 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.844311377 0.922155689 2 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.15E-31 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 66301457 C T HMGA2 CCDS44936.1 r.? - - intronic 58 0 0 48 16 33.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 1.798035088 1.798035088 1 NA NA 1 NA NA 1 4 NA 1 1 2.96E-25 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 66311654 G A - - - - - - 39 0 0 67 9 13.4 43 0 0 1 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.20493014 1.20493014 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.43E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 66314374 T G - - - - - - 76 1 1.3 61 14 23 41 2 4.9 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.378163673 1.378163673 1 0.527824561 0.527824561 1 0 0 1 NA NA 1 4 NA 0.316790122 1 1.10E-19 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 66345529 C T HMGA2 CCDS44936.1 r.? - - intronic 57 0 0 53 11 20.8 46 4 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.038339321 1.038339321 1 0.850157895 0.850157895 1 NA NA 1 NA NA 1 4 NA 1 1 3.07E-15 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 66397802 A G MEGF11 CCDS10213.2 r.? - - intronic 50 0 0 40 7 17.5 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.873602794 0.873602794 1 0.573736331 0.573736331 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-09 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 66417329 T A EPHA5 CCDS3513.1 r.? - - intronic 51 0 0 42 9 21.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.068291417 1.068291417 1 0.977192982 0.977192982 1 NA NA 1 NA NA 1 4 NA 1 1 7.51E-13 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 66466309 G A - - - - - - 23 0 0 31 11 35.5 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.772165669 0.886082834 2 0.80779121 0.80779121 1 NA NA 1 NA NA 0 4 NA 1 1 3.77E-18 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 66484504 G T - - - - - - 41 0 0 39 5 12.8 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.510978044 0.510978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 66526271 G A LRIG1 CCDS33783.1 r.? - - intronic 39 0 0 48 17 35.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.892536665 0.946268333 2 2.213122807 1.106561404 2 NA NA 0 NA NA 1 4 NA 1 1 2.80E-27 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 66557910 G T MTFR1 CCDS6182.1 r.? - - intronic 12 0 0 19 5 26.3 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.3129002 1.3129002 1 1.277437262 1.277437262 1 NA NA 1 NA NA 0 4 NA 1 1 3.43E-08 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 141684836 C A PTK2 CCDS6381.1 r.? - - intronic 31 0 0 36 5 13.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.97189022 0.97189022 1 2.122800156 1.061400078 2 NA NA 1 NA NA 0 4 NA 1 1 0.00000104 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 66582918 T C - - - - - - 48 0 0 143 7 4.9 48 2 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4 5 4 0 0 1 1 NA NA NA NA NA NA 0.342608782 0.342608782 1 0.452421053 0.452421053 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000902 1 0.024220359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 143016226 C T - - - - - - 13 0 0 28 8 28.6 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.999716567 0.999858283 2 0.986256709 0.986256709 1 NA NA 1 NA NA 0 4 NA 1 1 1.11E-12 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 66602287 A G - - - - - - 47 0 0 57 5 8.8 42 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.470461092 1.328487752 0.354132803 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 66639816 G A PDE7A CCDS34901.1 r.? - - intronic 60 0 0 48 8 16.7 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.833666667 0.833666667 1 1.305616025 1.305616025 1 NA NA 1 NA NA 0 4 NA 1 1 1.23E-10 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 3869422 G A GLIS3 CCDS6451.1 r.? - - intronic 41 0 0 19 5 26.3 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.7869002 0.7869002 1 1.367859649 1.367859649 1 NA NA 1 NA NA 1 4 NA 1 1 3.43E-08 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 66696785 C A - - - - - - 57 0 0 60 11 18.3 52 6 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.150930596 1.150930596 1 1.23877193 1.23877193 1 NA NA 0 NA NA 0 4 NA 1 1 1.34E-14 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 66714807 C T PDE7A CCDS43743.1 r.? - - intronic 41 0 0 43 11 25.6 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.277956088 1.277956088 1 1.014435473 1.014435473 1 NA NA 1 NA NA 0 4 NA 1 1 2.42E-16 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 66779602 G A - - - - - - 36 0 0 35 17 48.6 44 15 34.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.42611976 1.21305988 2 3.202986075 1.601493038 2 NA NA 1 NA NA 0 4 NA 1 1 3.18E-30 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 66805677 C T - - - - - - 52 0 0 49 16 32.7 32 5 15.6 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.959389222 0.979694611 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 4.37E-25 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 66842549 C A RHOD CCDS8155.1 r.? - - downstream 32 0 0 38 7 18.4 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.918530938 0.918530938 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 66881412 G A PCDH9 CCDS9443.1 r.? - - intronic 49 0 0 39 6 15.4 33 1 3 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.922770459 0.922770459 1 0.323157895 0.323157895 1 0 0 1 NA NA 1 4 NA 1 1 4.43E-08 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 66964641 G A - - - - - - 42 0 0 38 6 15.8 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.788738523 0.788738523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.76E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23426874 C G IGF2BP3 CCDS5382.1 r.? - - intronic 43 0 0 93 33 35.5 51 11 21.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 8.289880778 NA 6 NA 2 NA 0.710119222 NA 6 NA 3 NA 0.289880778 NA NA 1 3.25335109 1.084450363 3 NA NA 1 NA NA 0 NA NA 1 1 1.39E-51 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 66987426 A C - - - - - - 42 0 0 34 19 55.9 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.231536926 1.115768463 2 2.421052632 1.210526316 2 NA NA 1 NA NA 1 4 NA 1 1 3.30E-35 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 66996867 A T PCDH9 CCDS9443.1 r.? - - intronic 48 0 0 51 20 39.2 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.348870259 1.17443513 2 0.484736842 0.484736842 1 NA NA 1 NA NA 1 4 NA 1 1 6.38E-33 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 66999048 C T GRIP1 CCDS41807.1 r.? - - intronic 58 0 0 42 14 33.3 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 3.254052632 1.627026316 2 NA NA 1 NA NA 1 4 NA 1 1 2.83E-22 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67019037 G C - - - - - - 29 0 0 59 15 25.4 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.283972056 1.141986028 2 1.660350877 1.660350877 1 NA NA 1 NA NA 0 4 NA 1 1 9.90E-22 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 67051932 G T - - - - - - 50 0 0 61 20 32.8 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.965381238 0.982690619 2 1.281859649 1.281859649 1 NA NA 1 NA NA 1 4 NA 1 1 4.89E-31 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 67056621 T A - - - - - - 32 0 0 42 16 38.1 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.901958084 0.950979042 2 1.700315789 1.700315789 1 NA NA 1 NA NA 1 4 NA 1 1 2.25E-26 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 67078434 G A - - - - - - 40 0 0 44 5 11.4 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.56908982 0.56908982 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 7588910 A G - - - - - - 57 0 0 28 9 32.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.960437126 0.960437126 1 1.111385965 1.111385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67116125 T C - - - - - - 64 0 0 75 23 30.7 49 11 22.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.760548902 0.920182967 3 2.860912281 0.953637427 3 NA NA 1 NA NA 0 4 NA 1 1 1.10E-34 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 67172676 G C DOK6 CCDS32841.1 r.? - - intronic 38 0 0 27 14 51.9 32 6 18.8 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.071856287 1.035928144 2 1.649122807 1.649122807 1 0 0 1 NA NA 1 4 NA 1 1 1.15E-25 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 67175862 C G TBC1D10C CCDS8162.1 r.? - - intronic 19 0 0 56 9 16.1 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.803714571 0.803714571 1 1.12377193 1.12377193 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-11 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 67177070 G A ABCA10 CCDS11684.1 r.? - - intronic 57 0 0 38 9 23.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.946107784 0.946107784 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.79E-13 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 67180569 C A SGIP1 CCDS30744.1 r.? - - intronic 47 0 0 47 20 42.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.126598802 1.063299401 2 3.166649123 1.055549708 3 NA NA 0 NA NA 1 4 NA 1 1 8.18E-34 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67233831 G A - - - - - - 26 0 0 68 33 48.5 37 11 29.7 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 4.361127745 1.090281936 4 3.793263158 0.948315789 4 0 0 1 NA NA 0 4 NA 1 1 2.71E-57 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67315597 A C - - - - - - 48 0 0 76 11 14.5 46 4 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.303842315 1.303842315 1 1.111157895 1.111157895 1 NA NA 1 NA NA 0 4 NA 1 1 2.08E-13 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67315599 A T - - - - - - 47 0 0 75 11 14.7 47 4 8.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.321826347 1.321826347 1 1.085614035 1.085614035 1 NA NA 1 NA NA 0 4 NA 1 1 1.78E-13 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 67327270 A G AC009879.1 ENST00000499642 r.? - - downstream 56 0 0 50 13 26 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.297924152 1.297924152 1 1.315008946 1.315008946 1 NA NA 1 NA NA 0 4 NA 1 1 3.65E-19 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 67348201 C T PCDH9 CCDS9443.1 r.? - - intronic 45 0 0 49 12 24.5 37 11 29.7 6 0 0 6 2 33.3 2 0 0 1 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.468043912 1.468043912 1 3.199263158 1.599631579 2 1.995341317 1.995341317 1 0 0 1 4 3 1 1 1.90E-17 0.000370028 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 7695887 G T - - - - - - 53 0 0 23 10 43.5 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.301526946 1.301526946 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.05E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 16763146 A G BNC2 CCDS6482.2 r.? - - intronic 44 0 0 25 13 52 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.555848303 1.555848303 1 0.287561404 0.287561404 1 NA NA 1 NA NA 1 4 NA 1 1 6.00E-24 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 67366235 C A DOK6 CCDS32841.1 r.? - - intronic 51 0 0 39 5 12.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.510978044 0.510978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 67390267 A G WDR78 CCDS635.1 r.? - - intronic 11 0 0 42 17 40.5 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.021766467 1.010883234 2 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 1.73E-28 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 67426201 G T DOK6 CCDS32841.1 r.? - - intronic 56 0 0 29 13 44.8 40 11 27.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.788423154 0.894211577 2 2.412280702 1.206140351 2 NA NA 1 NA NA 1 4 NA 1 1 7.69E-23 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 67507016 G T SLC35D1 CCDS636.1 r.? - - intronic 37 0 0 35 5 14.3 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0.506192982 0.506192982 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000895 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 67566997 G A - - - - - - 44 0 0 29 16 55.2 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.203592814 1.101796407 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 67572603 G T - - - - - - 56 0 0 35 10 28.6 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.427716567 1.427716567 1 1.358298246 1.358298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-15 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 67594327 T C - - - - - - 44 0 0 46 17 37 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.847045908 0.923522954 2 2.169368421 1.084684211 2 NA NA 1 NA NA 1 4 NA 1 1 1.16E-27 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 67601481 C A - - - - - - 43 0 0 44 18 40.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.572298437 1.119742951 2.297222263 2.326736842 1.163368421 2 NA NA 1 NA NA 0 4 NA 1 1 3.47E-30 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 67632877 C T PCDH9 CCDS9443.1 r.? - - intronic 58 0 0 41 15 36.6 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.193077844 1.096538922 2 0.463192982 0.463192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.71E-24 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 67646344 G C SUCLG2 CCDS43104.1 r.? - - intronic 44 0 0 40 10 25 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.336537193 1.336537193 1 2.189578947 1.094789474 2 NA NA 0 NA NA 1 4 NA 1 1 7.22E-15 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 67716254 T A - - - - - - 35 0 0 45 7 15.6 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.833999208 0.833999208 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000003 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 24842097 G A - - - - - - 42 0 0 22 7 31.8 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.951461078 0.951461078 1 0.707245614 0.707245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.25E-11 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 67748855 C G GFOD2 CCDS10845.1 r.? - - intronic 56 0 0 52 23 44.2 50 8 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.648471058 1.324235529 2 1.983728301 0.99186415 2 NA NA 0 NA NA 1 4 NA 1 1 3.66E-39 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 67754933 T C - - - - - - 42 0 0 42 13 31 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.54752495 1.54752495 1 1.719859649 1.719859649 1 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 67759509 G T PCDH9 CCDS9443.1 r.? - - intronic 55 0 0 47 14 29.8 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 1.228 1.228 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-21 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67775376 G A - - - - - - 54 0 0 68 26 38.2 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.4349501 0.858737525 4 0.932350877 0.932350877 1 NA NA 1 NA NA 0 4 NA 1 1 5.33E-42 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 67869967 C T - - - - - - 40 0 0 76 16 21.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.897315369 0.948657685 2 1.941333333 1.941333333 1 NA NA 1 NA NA 0 4 NA 1 1 1.25E-21 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 67874659 A T - - - - - - 56 0 0 43 12 27.9 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.491575507 1.491575507 1 0.859350877 0.859350877 1 NA NA 0 NA NA 1 4 NA 1 1 3.24E-18 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 67934157 A C - - - - - - 42 0 0 44 8 18.2 34 1 2.9 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 0.312385965 0.312385965 1 NA NA 1 0 0 1 4 NA 1 1 5.90E-11 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 67940634 G C PSKH1 CCDS10851.1 r.? - - intronic 26 0 0 65 5 7.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.46138523 0.46138523 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 67941505 G T STARD8 CCDS48134.1 r.2590g>u c.2376G>T p.Q792H missense 22 0 0 27 8 29.6 19 5 26.3 265 0 0 18 5 27.8 29 15 51.7 6.80E-23 TRUE TRUE 3 2.566189755 2 1 1 1 1 0.433810245 NA 2 NA 1 NA 0.566189755 1.477636727 1.477636727 1 2.455925449 1.568089334 1.566189755 1.387780439 1.387780439 1 4.827807822 3.082517817 1.566189755 4 3 1 1 7.97E-13 2.54E-08 3.43E-08 2.22E-27 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 67943499 C T - - - - - - 47 0 0 26 15 57.7 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.303393214 1.151696607 2 2.394736842 1.197368421 2 NA NA 1 NA NA 1 4 NA 1 1 2.24E-28 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 67987679 G A - - - - - - 55 0 0 56 6 10.7 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.641145709 0.641145709 1 0.258526316 0.258526316 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000409 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 67990691 C A - - - - - - 26 0 0 40 10 25 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 1.745052632 1.745052632 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 68068987 A T - - - - - - 55 0 0 43 14 32.6 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 2.046666667 1.023333333 2 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 68078758 G A - - - - - - 43 0 0 44 12 27.3 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.362820359 1.362820359 1 2.003245614 1.001622807 2 NA NA 1 NA NA 1 4 NA 1 1 4.44E-18 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 68095622 G C LRP5 CCDS8181.1 r.? - - intronic 25 0 0 30 7 23.3 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.163139721 1.163139721 1 1.543964912 1.543964912 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-10 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 68112743 T A - - - - - - 70 0 0 33 9 27.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 1.219298246 1.219298246 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-14 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 68137225 G A LRP5 CCDS8181.1 r.? - - intronic 15 0 0 31 20 64.5 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 3.219850299 1.60992515 2 2.716596491 1.358298246 2 NA NA 1 NA NA 1 4 NA 1 1 7.66E-39 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 68140966 T C - - - - - - 57 0 0 76 48 63.2 34 13 38.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 5.682954092 1.136590818 5 4.878877193 1.219719298 4 NA NA 1 NA NA 0 4 NA 1 1 1.54E-90 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 26142754 G T - - - - - - 53 0 0 18 9 50 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.496007984 1.496007984 1 1.367859649 1.367859649 1 NA NA 1 NA NA 1 4 NA 1 1 9.12E-17 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 68187676 A C - - - - - - 47 0 0 32 11 34.4 28 3 10.7 0 0 NA 0 0 NA 1 1 100 0.01 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.717253493 0.858626747 2 1.045596491 1.045596491 1 NA NA 1 9.771929825 9.771929825 1 4 NA 1 1 5.72E-18 1 0.000372895 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 68256782 G A CTNNA3 CCDS7269.1 r.? - - intronic 49 0 0 52 18 34.6 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.176076428 0.947264208 2.297222263 1.540385965 1.540385965 1 NA NA 1 NA NA 0 4 NA 1 1 1.39E-28 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 68260497 G T NFATC3 CCDS10860.1 r.3375g>u c.? p.? 3'UTR variant 53 0 0 79 17 21.5 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 5.626372055 6 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.363283433 1.181641717 2 3.310346602 1.103448867 3 NA NA 1 NA NA 0 4 NA 1 1 4.55E-23 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 33575061 A G ANKRD18B ENST00000290943 r.? - - downstream 29 0 0 30 11 36.7 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.422406675 3.327893332 2 3 0 0 0.577593325 0.672106668 3 3 0 1 0.422406675 0.327893332 1.62009311 1.62009311 1 1.262477895 1.262477895 1 NA NA 0 NA NA 0 4 NA 1 1 2.44E-18 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 68290491 G T - - - - - - 42 0 0 44 11 25 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.654719298 0.654719298 1 NA NA 1 NA NA 1 4 NA 1 1 3.22E-16 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 35153713 G T - - - - - - 41 0 0 56 9 16.1 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.825148192 0.825148192 1 0.329614035 0.329614035 1 NA NA 0 NA NA 1 4 NA 1 1 1.20E-11 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 68300486 T C - - - - - - 45 0 0 51 14 27.5 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.647804391 0.823902196 2 0.947929825 0.947929825 1 NA NA 1 NA NA 1 4 NA 1 1 6.64E-21 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 68305031 C G - - - - - - 51 0 0 38 12 31.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 2.552947368 1.276473684 2 NA NA 1 NA NA 1 4 NA 1 1 5.86E-19 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 68305125 A T SAPS3 CCDS8182.1 r.354-2a>u c.? p.? 5'UTR ess splice 47 0 0 31 14 45.2 34 11 32.4 98 0 0 129 51 39.5 157 41 26.1 3.31E-45 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.256391218 1.128195609 2 3.166105263 1.583052632 2 1.971846307 0.985923154 2 2.550473684 1.275236842 2 4 3 1 1 1.49E-24 8.57E-82 1.26E-17 2.66E-57 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 10 68330222 T G CTNNA3 CCDS7269.1 r.? - - intronic 37 0 0 48 14 29.2 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.836457563 0.918228782 2 1.012561404 1.012561404 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-21 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 68339976 G C FAM19A1 ENST00000478136 r.? - - intronic 60 0 0 40 21 52.5 44 13 29.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.806728105 1.403364053 2 3.472719298 1.157573099 3 NA NA 0 NA NA 1 4 NA 1 1 5.72E-38 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 68366312 T G - - - - - - 265 0 0 232 14 6 178 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.239520958 0.239520958 1 0 0 1 NA NA 0 NA NA 1 2 NA 1 1 2.22E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 68369931 A G - - - - - - 21 0 0 70 12 17.1 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.537634731 1.537634731 1 1.545403509 1.545403509 1 NA NA 1 NA NA 0 4 NA 1 1 1.99E-15 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 68395705 C T RAD51L1 CCDS9789.1 r.? - - intronic 36 0 0 30 17 56.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.263473054 1.131736527 2 3.136789474 1.045596491 3 NA NA 0 NA NA 1 4 NA 1 1 8.59E-32 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 68468338 C T - - - - - - 51 0 0 76 42 55.3 41 15 36.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 4.97258483 0.994516966 5 4.674526316 1.168631579 4 NA NA 1 NA NA 0 4 NA 1 1 8.75E-76 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 68471322 T C FAM19A1 ENST00000478136 r.? - - intronic 44 0 0 53 21 39.6 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.117074913 1.058537457 2 2.02477193 2.02477193 1 NA NA 0 NA NA 1 4 NA 1 1 1.30E-34 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 68472501 T C - - - - - - 44 0 0 32 13 40.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.566189755 2 1 1 1 1 0.433810245 NA 2 NA 1 NA 0.566189755 2.026758483 1.013379242 2 3.221651255 2.056999317 1.566189755 NA NA 1 NA NA 0 4 NA 1 1 3.88E-22 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 68482358 A G - - - - - - 39 0 0 30 4 13.3 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.530938124 0.530938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 68524520 G C - - - - - - 43 0 0 55 4 7.3 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.656417166 0.656417166 1 0.689684211 0.689684211 1 NA NA 1 NA NA 0 4 NA 1 1 0.000173903 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 68548648 C A - - - - - - 32 0 0 54 17 31.5 29 3 10.3 211 2 0.9 89 27 30.3 236 10 4.2 0.000157616 TRUE TRUE 9 5.626372055 6 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.46248503 0.865621257 4 1.277025094 1.277025094 1 3.330580838 1.110193613 3 0.520728679 0.831340853 0.626372055 4 3 1 0.284514532 3.02E-26 2.66E-40 0.000414371 0.000000427 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 68586682 T C WLS CCDS642.1 r.? - - downstream 51 0 0 41 8 19.5 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.973443114 0.973443114 1 0.494421053 0.494421053 1 NA NA 0 NA NA 1 4 NA 1 1 3.22E-11 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 36939433 G T PAX5 CCDS6607.1 r.? - - intronic 25 0 0 43 9 20.9 32 1 3.1 260 1 0.4 120 30 25 129 5 3.9 0.00991306 TRUE TRUE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 1.071155106 1.071155106 1 0.364929825 0.364929825 1 1.281286012 1.281286012 1 0.459105263 0.459105263 1 4 3 1 0.728355451 9.45E-13 1.02E-41 0.14819814 0.000514532 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 13 68662568 A T - - - - - - 64 0 0 60 8 13.3 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.796938124 0.796938124 1 0.269298246 0.269298246 1 NA NA 1 NA NA 1 4 NA 1 1 7.93E-10 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 68688181 A C - - - - - - 55 0 0 34 7 20.6 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.822355289 0.822355289 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 3.73E-10 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 68707044 T G LRRTM3 CCDS7270.1 r.? - - intronic 58 0 0 56 4 7.1 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.446535914 0.446535914 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000186538 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 68742817 C T - - - - - - 65 0 0 21 8 38.1 40 5 12.5 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.520958084 1.520958084 1 1.096491228 1.096491228 1 NA NA 1 0 0 1 4 NA 1 1 7.50E-14 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 68766138 G T - - - - - - 47 0 0 34 16 47.1 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880239521 0.94011976 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 3.09E-28 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 68782144 G A - - - - - - 46 0 0 63 8 12.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.141986028 1.141986028 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.18E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 68798358 C A - - - - - - 19 0 0 29 10 34.5 10 1 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 0.877192982 0.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 0.04888987 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 68807157 G A OCLN CCDS4006.1 r.? - - intronic 23 0 0 58 14 24.1 34 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.444075848 1.444075848 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.04E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 68823365 A G PROKR1 CCDS1889.1 r.? - - intronic 45 0 0 50 20 40 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 3.90E-33 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 68857757 C G - - - - - - 37 0 0 30 8 26.7 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.332868263 1.332868263 1 0.342228689 0.342228689 1 NA NA 1 NA NA 0 4 NA 1 1 2.07E-12 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 68897571 G A - - - - - - 32 0 0 35 9 25.7 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.282948104 1.282948104 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.23E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 38686890 G A - - - - - - 15 0 0 26 11 42.3 16 4 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 4 2 3 1 1 0.866871919 1 2 NA 2 NA 0.133128081 NA 2.167935933 1.083967966 2 2.692982456 0.897660819 3 NA NA 0 NA NA 0 4 NA 1 1 3.52E-19 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 68975910 G A - - - - - - 56 0 0 34 17 50 29 6 20.7 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.815789474 1.815789474 1 0 0 1 NA NA 1 4 NA 1 1 1.64E-30 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 69037112 G A - - - - - - 48 0 0 23 12 52.2 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.083832335 1.041916168 2 2.535087719 1.26754386 2 NA NA 1 NA NA 1 4 NA 1 1 3.14E-22 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 69042625 C G ARHGAP25 CCDS46312.1 r.? - - intronic 29 0 0 37 13 35.1 22 7 31.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.103197605 1.051598802 2 3.425473684 1.712736842 2 NA NA 1 NA NA 1 4 NA 1 1 3.89E-21 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 69063369 G A PREX2 CCDS6201.1 r.? - - intronic 44 0 0 39 12 30.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.537540918 1.537540918 1 2.564267445 1.282133722 2 NA NA 1 NA NA 0 4 NA 1 1 8.43E-19 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 69067327 A G - - - - - - 49 0 0 27 10 37 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.477045908 1.477045908 1 0.622807018 0.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 7.62E-17 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 69129501 G A NUP107 CCDS8985.1 r.? - - intronic 46 0 0 35 6 17.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.853634731 0.853634731 1 1.485333333 1.485333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-08 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 69182585 T A AUTS2 CCDS5539.1 r.? - - intronic 54 0 0 107 21 19.6 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.76243513 0.881217565 2 0.855719298 0.855719298 1 NA NA 1 NA NA 0 4 NA 1 1 3.13E-27 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 69197012 G A RAD51L1 ENST00000488612 r.? - - downstream 41 0 0 41 30 73.2 30 17 56.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.922155689 1.461077844 2 5.540684211 1.846894737 3 NA NA 0 NA NA 1 4 NA 1 1 2.79E-60 1 8.59E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 69201469 G A MDM2 CCDS8986.2 r.? - - upstream 24 0 0 48 10 20.8 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.038339321 1.038339321 1 0.517912281 0.517912281 1 NA NA 1 NA NA 1 4 NA 1 1 5.37E-14 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 69324443 A T C8orf34 ENST00000348340 r.? - - intronic 49 0 0 41 18 43.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.19149501 1.095747505 2 2.413980708 1.206990354 2 NA NA 1 NA NA 0 4 NA 1 1 6.91E-31 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 69374955 T C - - - - - - 43 0 0 35 11 31.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.567493014 1.567493014 1 1.989690172 1.514900129 1.313413428 NA NA 1 NA NA 0 4 NA 1 1 1.82E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 69394023 C T - - - - - - 51 0 0 50 20 40 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 3.90E-33 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 69461876 A C AUTS2 CCDS5539.1 r.? - - intronic 55 0 0 68 12 17.6 50 10 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.58259481 1.58259481 1 2.554385965 0.851461988 3 NA NA 1 NA NA 0 4 NA 1 1 1.37E-15 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 69493389 T G CYB5B CCDS10880.2 r.? - - intronic 54 0 0 42 13 31 36 14 38.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.85752495 0.928762475 2 4.822939431 1.607646477 3 NA NA 0 NA NA 0 4 NA 1 1 2.72E-20 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 69505599 G C C8orf34 CCDS6203.1 r.? - - intronic 55 0 0 52 21 40.4 35 7 20 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.016774451 1.008387226 2 1.878584208 1.878584208 1 NA NA 1 0 NA 0 4 NA 1 1 7.89E-35 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 69543804 T A GLCE CCDS32277.1 r.? - - intronic 49 0 0 46 21 45.7 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.281351297 1.140675649 2 2.687501761 1.171729382 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 2.94E-36 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 69550831 G T - - - - - - 42 0 0 33 7 21.2 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.846307385 0.846307385 1 0.377192982 0.377192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.98E-10 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 69569190 C A - - - - - - 65 0 0 65 25 38.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.306926148 1.153463074 2 2.488315789 1.244157895 2 NA NA 1 NA NA 1 4 NA 1 1 1.60E-40 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 69816874 C T - - - - - - 82 0 0 59 8 13.6 64 2 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.542914172 0.542914172 1 0.333929825 0.333929825 1 NA NA 0 NA NA 1 4 NA 1 1 6.90E-10 1 0.041085601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 69675879 T A - - - - - - 66 1 1.5 51 12 23.5 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.408123752 1.408123752 1 1.594245614 1.594245614 1 NA NA 1 NA NA 1 4 NA 0.281671117 1 3.24E-17 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 69761743 C G - - - - - - 27 0 0 38 9 23.7 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.183107784 1.183107784 1 1.80173339 1.80173339 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 69777477 G T - - - - - - 64 0 0 41 9 22 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.17615273 1.17615273 1 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 69778713 G C - - - - - - 50 0 0 32 10 31.2 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.557508982 1.557508982 1 1.135667907 1.135667907 1 NA NA 1 NA NA 0 4 NA 1 1 5.70E-16 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 69780176 G A - - - - - - 33 0 0 41 13 31.7 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.582469062 0.791234531 2 1.530350877 1.530350877 1 NA NA 0 NA NA 1 4 NA 1 1 1.89E-20 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 69801289 G A - - - - - - 43 0 0 45 9 20 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.998403194 0.998403194 1 0.27239471 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.47E-12 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 86273929 G C UBQLN1 CCDS6663.1 r.? - - downstream 43 0 0 38 12 31.6 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.261477046 1.261477046 1 2.692982456 0.897660819 3 NA NA 0 NA NA 1 4 NA 1 1 5.86E-19 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 69860790 C G WWP2 CCDS10885.1 r.? - - intronic 21 0 0 26 8 30.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.845540918 0.922770459 2 2.566448489 1.081234527 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 5.63E-13 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 69867396 G C AUTS2 CCDS5539.1 r.? - - intronic 37 0 0 81 13 16 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.438722555 1.438722555 1 0.932350877 0.932350877 1 NA NA 1 NA NA 0 4 NA 1 1 3.34E-16 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 69868863 C T - - - - - - 25 0 0 28 14 50 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.496007984 1.248003992 2 3.774581125 1.645687334 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 2.29E-25 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 69897802 C T - - - - - - 56 0 0 31 11 35.5 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.127165669 1.063582834 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.77E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 69909454 C T AUTS2 CCDS5539.1 r.? - - intronic 47 0 0 63 15 23.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.1400998 1.0700499 2 1.775298246 1.775298246 1 NA NA 1 NA NA 0 4 NA 1 1 2.97E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 89510197 C A - - - - - - 57 0 0 31 9 29 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.157684631 1.157684631 1 1.798912281 1.798912281 1 NA NA 0 NA NA 1 4 NA 1 1 3.57E-14 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 69926291 T A AUTS2 CCDS5539.1 r.? - - intronic 51 0 0 82 6 7.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.656417166 0.656417166 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000395 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 92157980 G T - - - - - - 25 0 0 39 10 25.6 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.021956088 1.021956088 1 0.538596491 0.538596491 1 NA NA 0 NA NA 1 4 NA 1 1 5.44E-15 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 70001515 T A ANO1 CCDS44663.1 r.? - - intronic 22 0 0 25 12 48 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.396167665 1.198083832 2 1.328982456 1.328982456 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-21 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 70038823 C G - - - - - - 21 0 0 40 14 35 7 3 42.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.397205589 1.397205589 1 4.192157895 1.397385965 3 NA NA 0 NA NA 1 4 NA 1 1 1.25E-22 1 0.00000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 92249038 C A - - - - - - 22 0 0 28 6 21.4 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.36E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 70055894 A T - - - - - - 58 0 0 54 5 9.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.557257485 0.557257485 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000806 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 70059943 G A BAI3 CCDS4968.1 r.? - - intronic 45 0 0 26 6 23.1 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.922155689 0.922155689 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.30E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 70073868 G A - - - - - - 19 0 0 41 11 26.8 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.337860279 1.337860279 1 0.635175439 0.635175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.34E-16 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 70107990 A T - - - - - - 51 0 0 64 26 40.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.432758483 1.216379242 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 7.46E-43 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 70160388 T A ENSG00000090857 CCDS45520.1 r.? - - intronic 60 0 0 97 17 17.5 67 3 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.048602794 1.048602794 1 0.557923585 0.557923585 1 NA NA 0 NA NA 0 4 NA 1 1 1.97E-21 1 0.004717431 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 99731056 G A HIATL2 ENST00000375223 r.? - - intronic 18 0 0 36 7 19.4 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 2.692982456 0.897660819 3 NA NA 0 NA NA 1 4 NA 1 1 5.74E-10 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 103849271 G T ENSG00000148123 CCDS6751.1 r.? - - intronic 35 0 0 32 5 15.6 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 3.016140351 1.005380117 3 NA NA 0 NA NA 1 4 NA 1 1 0.000000562 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 105322670 T C C9orf107 ENST00000374801 r.? - - intronic 62 0 0 42 5 11.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.4750499 0.4750499 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 70223613 C T - - - - - - 41 1 2.4 30 14 46.7 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.331271457 1.165635729 2 2.273086892 1.136543446 2 NA NA 1 NA NA 0 4 NA 0.18577148 1 8.24E-25 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 70246522 A G - - - - - - 12 0 0 36 9 25 16 1 6.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.248003992 1.248003992 1 0.582361105 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.63E-13 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 70264395 A G - - - - - - 44 0 0 25 5 20 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 1.412280702 1.412280702 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000153 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 70297259 G A - - - - - - 41 0 0 35 7 20 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.998403194 0.998403194 1 0.299816327 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.65E-10 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 70316628 G C LRRC7 CCDS645.1 r.? - - intronic 52 0 0 47 6 12.8 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106393421 G C - - - - - - 52 0 0 19 4 21.1 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.842315369 0.842315369 1 1.432666667 1.432666667 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000228 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 70448206 G T - - - - - - 35 0 0 57 4 7 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.629441118 0.629441118 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000199821 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 70450009 A T NETO1 CCDS12000.1 r.? - - intronic 32 0 0 39 17 43.6 23 7 30.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.740518962 0.870259481 2 2.666666667 1.333333333 2 NA NA 1 NA NA 1 4 NA 1 1 3.51E-29 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 70466872 C G KLHL1 CCDS9445.1 r.? - - intronic 67 0 0 57 7 12.3 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.737017964 0.737017964 1 0.280070175 0.280070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.66E-08 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 70478517 C T SULF1 CCDS6204.1 r.? - - intronic 53 0 0 52 29 55.8 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.78554491 1.392772455 2 2.648803734 1.324401867 2 NA NA 1 NA NA 0 4 NA 1 1 5.88E-53 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 70491859 G C UGT2A1 ENST00000457664 r.? - - intronic 44 0 0 42 9 21.4 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.068291417 1.068291417 1 0.263474954 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.51E-13 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 70545898 G A - - - - - - 26 0 0 60 11 18.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.645538922 1.645538922 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.34E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 70559106 G T - - - - - - 32 0 0 47 17 36.2 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.25510978 1.085036593 3 0.945122807 0.945122807 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-27 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 70643244 T A - - - - - - 21 0 0 18 4 22.2 10 2 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000181 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 70690172 T C - - - - - - 30 0 0 37 10 27 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.347844311 1.347844311 1 0.754916225 0.754916225 1 NA NA 1 NA NA 0 4 NA 1 1 3.01E-15 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 70710756 G A ENSG00000235812 ENST00000433248 r.? - - downstream 48 0 0 42 24 57.1 32 13 40.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 3.967403509 1.322467836 3 NA NA 0 NA NA 1 4 NA 1 1 1.93E-44 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 70774926 G A - - - - - - 44 0 0 48 8 16.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.833666667 0.833666667 1 1.343187709 1.343187709 1 NA NA 1 NA NA 0 4 NA 1 1 1.23E-10 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 70800348 T G - - - - - - 32 0 0 61 9 14.8 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.930807258 0.930807258 1 0.247754386 0.247754386 1 NA NA 0 NA NA 0 4 NA 1 1 2.68E-11 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 70808195 G A COL19A1 CCDS4970.1 r.? - - intronic 48 0 0 37 8 21.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.862275449 0.862275449 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.33E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 70810856 A T VAC14 CCDS10896.1 r.? - - intronic 47 0 0 43 13 30.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.809588822 0.904794411 2 2.405270565 1.01333091 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 3.88E-20 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 70854101 G C - - - - - - 61 0 0 57 22 38.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.312918164 1.156459082 2 2.606807018 1.303403509 2 NA NA 1 NA NA 1 4 NA 1 1 7.03E-36 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 70855308 C T - - - - - - 57 0 0 40 22 55 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.745608782 1.372804391 2 1.749175439 1.749175439 1 NA NA 1 NA NA 1 4 NA 1 1 2.48E-40 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 70885804 G A WBSCR17 CCDS5540.1 r.? - - intronic 28 0 0 75 9 12 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.079041916 1.079041916 1 1.519859649 1.519859649 1 NA NA 1 NA NA 0 4 NA 1 1 1.82E-10 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 111365369 A T - - - - - - 36 0 0 34 12 35.3 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.409181637 1.409181637 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.21E-19 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 70894782 T A - - - - - - 44 0 0 51 14 27.5 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.470190912 1.470190912 1 0.835807018 0.835807018 1 NA NA 0 NA NA 1 4 NA 1 1 6.64E-21 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 70914902 C A - - - - - - 65 0 0 46 18 39.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.951878244 0.975939122 2 1.653154103 1.653154103 1 NA NA 1 NA NA 0 4 NA 1 1 9.41E-30 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 70920574 G T - - - - - - 41 0 0 35 4 11.4 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.60946096 0.60946096 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 70956298 C T WBSCR17 CCDS5540.1 r.? - - intronic 30 0 0 57 19 33.3 42 10 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.994341317 0.998113772 3 3.039719298 1.013239766 3 NA NA 1 NA NA 0 4 NA 1 1 1.01E-29 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 70997281 A G HYDIN2 CCDS42189.1 r.? - - intronic 87 0 0 88 17 19.3 61 9 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.156459082 1.156459082 1 1.834948678 0.917474339 2 NA NA 0 NA NA 0 4 NA 1 1 3.34E-22 1 2.68E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 71015650 C A UACA CCDS10235.1 r.? - - intronic 35 0 0 43 9 20.9 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.043331337 1.043331337 1 0.885768371 0.885768371 1 NA NA 0 NA NA 0 4 NA 1 1 9.45E-13 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 71021710 A T WBSCR17 CCDS5540.1 r.? - - intronic 25 0 0 56 6 10.7 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.962145709 0.962145709 1 1.060070175 1.060070175 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000409 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 71024447 A C SLC39A11 CCDS11690.1 r.? - - intronic 50 0 0 62 18 29 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.431331109 6.213584959 8 5 0 1 0.568668891 0.786415041 8 5 1 2 0.431331109 0.213584959 3.022770652 1.007590217 3 1.181681845 1.181681845 1 NA NA 0 NA NA 0 4 NA 1 1 5.72E-27 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 71028138 G T - - - - - - 40 0 0 53 17 32.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 71051119 G C - - - - - - 34 0 0 32 10 31.2 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.70E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 71054423 A G HYDIN2 CCDS42189.1 r.? - - intronic 96 0 0 100 24 24 52 1 1.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.438083832 0.719041916 2 0.235567736 0.235567736 1 NA NA 0 NA NA 1 4 NA 1 1 3.30E-33 1 0.229451111 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 71089103 T G C4orf7 CCDS3537.1 r.? - - upstream 55 0 0 32 12 37.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.872005988 0.936002994 2 1.653532472 1.653532472 1 NA NA 1 NA NA 0 4 NA 1 1 5.03E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 71190953 C T - - - - - - 28 0 0 61 11 18 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.618562874 1.618562874 1 3.103578947 1.034526316 3 NA NA 1 NA NA 0 4 NA 1 1 1.62E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 71246758 T G NCOA2 CCDS47872.1 r.? - - intronic 49 0 0 50 19 38 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.896966068 0.948483034 2 2.25430105 1.127150525 2 NA NA 1 NA NA 0 4 NA 1 1 5.00E-31 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 71370194 G A - - - - - - 44 0 0 32 21 65.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.618762475 1.309381238 2 3.026315789 1.513157895 2 NA NA 1 NA NA 1 4 NA 1 1 5.84E-41 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 71394171 G T - - - - - - 49 0 0 46 10 21.7 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.300267465 1.300267465 1 1.734280702 1.734280702 1 NA NA 1 NA NA 1 4 NA 1 1 3.38E-14 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 113311760 G T SVEP1 CCDS48004.1 r.? - - intronic 57 0 0 37 6 16.2 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.646706587 0.646706587 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 71428075 C T - - - - - - 19 0 0 58 12 20.7 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.240347305 1.240347305 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.76E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 71449818 G A - - - - - - 40 0 0 61 10 16.4 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.982690619 0.982690619 1 0.538596491 0.538596491 1 NA NA 1 NA NA 1 4 NA 1 1 6.98E-13 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 71469081 C T ENSG00000235418 ENST00000446016 r.? - - upstream 37 0 0 48 16 33.3 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.995341317 0.997670659 2 1.859745282 1.859745282 1 NA NA 0 NA NA 1 4 NA 1 1 2.96E-25 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 23429020 C A IGF2BP3 CCDS5382.1 r.? - - intronic 45 0 0 83 29 34.9 50 14 28 4 0 0 13 7 53.8 8 2 25 0.002690078 TRUE TRUE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 4.254448136 1.063612034 4 4.217306969 1.054326742 4 6.558432943 0.964245692 6.801620163 3.765452651 3.765452651 1 4 3 1 1 2.77E-45 1.31E-13 4.84E-21 0.000686131 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 71487718 G T SMAP1 CCDS43478.1 r.? - - intronic 38 0 0 26 14 53.8 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.147704591 1.073852295 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 5.57E-26 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 71518668 C T PIP5K1B CCDS6624.1 r.? - - intronic 45 0 0 37 9 24.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.97005988 0.97005988 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.14E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 71534613 G T ZNF638 ENST00000410075 r.? - - intronic 23 0 0 39 6 15.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.922770459 0.922770459 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.43E-08 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 71557944 G A - - - - - - 35 0 0 16 8 50 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-15 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 71558393 C T CALN1 CCDS47603.1 r.? - - intronic 43 0 0 67 29 43.3 45 9 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.893542914 0.973385729 4 2.554385965 0.851461988 3 NA NA 1 NA NA 0 4 NA 1 1 1.22E-48 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 71583525 G C - - - - - - 62 0 0 30 11 36.7 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46506986 1.46506986 1 3.192982456 1.596491228 2 NA NA 1 NA NA 1 4 NA 1 1 2.44E-18 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 71591112 G C FOXP1 CCDS2914.1 r.? - - intronic 48 0 0 38 11 28.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.545036995 1.545036995 1 2.519192982 0.839730994 3 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 71604831 C T CALN1 CCDS47603.1 r.? - - intronic 32 0 0 76 28 36.8 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 3.309061876 1.103020625 3 1.507087719 1.507087719 1 NA NA 1 NA NA 0 4 NA 1 1 1.47E-44 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29528014 C G CHN2 CCDS5420.1 r.? - - intronic 28 0 0 76 10 13.2 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 1.609132246 1.609132246 1 0.301236212 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.90E-12 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 71691045 C T RNF121 CCDS8203.1 r.? - - intronic 40 0 0 29 6 20.7 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.289720371 1.289720371 1 0.538389282 0.538389282 1 NA NA 0 NA NA 0 4 NA 1 1 6.72E-09 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 38092262 C T - - - - - - 62 0 0 111 27 24.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.960606304 0.986868768 3 3.178042037 1.059347346 3 NA NA 0 NA NA 0 4 NA 1 1 2.43E-37 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 71777301 G T - - - - - - 29 0 0 28 8 28.6 17 7 41.2 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.798722134 1.798722134 1 4.438035088 2.219017544 2 NA NA 0 0 NA 0 4 NA 1 1 1.11E-12 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 71794477 C T - - - - - - 49 0 0 47 9 19.1 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.14447505 1.14447505 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.24E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 71851865 C A - - - - - - 32 0 0 22 15 68.2 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 5.255755864 1.051151173 5 1.688116922 1.688116922 1 NA NA 0 NA NA 0 4 NA 1 1 5.04E-30 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 114298774 C A ZNF483 CCDS35106.1 r.? - - intronic 25 0 0 33 9 27.3 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 0.894070175 0.894070175 1 NA NA 0 NA NA 1 4 NA 1 1 6.76E-14 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 71950896 G A - - - - - - 56 0 0 42 7 16.7 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.833666667 0.833666667 1 0.972131728 0.972131728 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-09 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 71952484 C T - - - - - - 38 0 0 47 16 34 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.138340999 0.930837661 2.297222263 1.885087719 1.885087719 1 NA NA 1 NA NA 0 4 NA 1 1 1.98E-25 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 71965576 T C - - - - - - 23 0 0 53 13 24.5 28 4 14.3 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 2.203043912 1.101521956 2 1.826385965 1.826385965 1 NA NA 1 NA NA 0 4 NA 1 1 8.53E-19 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 71999812 G A - - - - - - 14 0 0 58 7 12.1 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 1.088033932 1.088033932 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.88E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 72001349 A G - - - - - - 13 0 0 35 22 62.9 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 4.847317358 0.969463472 5 4.492988115 0.938695887 4.786415041 NA NA 0 NA NA 1 4 NA 1 1 3.31E-42 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 72013135 G C - - - - - - 40 0 0 52 9 17.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.924883737 0.924883737 1 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-12 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 38609584 G T AMPH CCDS5456.1 r.? - - intronic 52 0 0 97 16 16.5 53 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 2.010288231 1.005144116 2 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.26E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72058313 C A CLPB CCDS8215.1 r.? - - intronic 34 0 0 38 8 21.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.314642504 1.314642504 1 1.454595605 1.454595605 1 NA NA 0 NA NA 0 4 NA 1 1 1.67E-11 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 114979691 G A ROD1 CCDS6784.1 r.? - - downstream 39 0 0 35 9 25.7 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.025948104 1.025948104 1 0.344701754 0.344701754 1 NA NA 0 NA NA 1 4 NA 1 1 1.23E-13 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 115127590 G A - - - - - - 45 0 0 36 8 22.2 16 4 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 2.692982456 0.897660819 3 NA NA 0 NA NA 1 4 NA 1 1 1.04E-11 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 72118040 C A DACH1 ENST00000305425 r.? - - intronic 44 0 0 53 17 32.1 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 1.605017544 1.605017544 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 72149217 G C SLC4A4 CCDS47071.1 r.? - - intronic 53 0 0 38 5 13.2 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.658946108 0.658946108 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72150371 C T CLPB CCDS8215.1 r.? - - upstream 58 0 0 37 9 24.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.514019566 1.514019566 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.14E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 72189035 G A - - - - - - 44 0 0 54 27 50 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.673074386 1.336537193 2 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.27E-47 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 72197959 G A TNPO1 CCDS43329.1 r.? - - intronic 39 0 0 57 22 38.6 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.312918164 1.156459082 2 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 7.03E-36 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 72205142 T G SIPA1L1 CCDS9807.1 r.? - - intronic 50 1 2 23 12 52.2 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.083832335 1.041916168 2 3.254052632 1.084684211 3 NA NA 0 NA NA 1 4 NA 0.221687443 1 3.14E-22 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 72228358 A T - - - - - - 34 0 0 44 13 29.5 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.767644711 0.883822355 2 0.614 0.614 1 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 72288158 C T - - - - - - 20 0 0 26 13 50 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.566189755 2 1 1 1 1 0.433810245 NA 2 NA 1 NA 0.566189755 2.496007984 1.248003992 2 1.699537763 1.699537763 1 NA NA 1 NA NA 0 4 NA 1 1 1.20E-23 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72290291 C T PDE2A CCDS8216.1 r.? - - intronic 8 0 0 36 9 25 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.557633299 1.557633299 1 0.632843542 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.63E-13 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72293795 C T PDE2A CCDS8216.1 r.? - - intronic 25 0 0 36 7 19.4 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.20872344 1.20872344 1 0.61395269 0.61395269 1 NA NA 0 NA NA 0 4 NA 1 1 5.74E-10 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72350846 G C PDE2A CCDS8216.1 r.? - - intronic 15 1 6.7 30 20 66.7 22 13 59.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 4.155765641 1.385255214 3 5.58224677 2.791123385 2 NA NA 0 NA NA 0 4 NA 0.072431031 1 2.73E-39 1 5.82E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72376652 A G PDE2A CCDS8216.1 r.? - - intronic 27 0 0 38 14 36.8 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 2.292836216 1.146418108 2 1.284577937 1.284577937 1 NA NA 0 NA NA 0 4 NA 1 1 5.28E-23 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 72382642 G T - - - - - - 38 0 0 44 9 20.5 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.228363273 1.228363273 1 1.413406414 1.413406414 1 NA NA 0 NA NA 0 4 NA 1 1 1.18E-12 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 72398538 C A - - - - - - 32 0 0 44 21 47.7 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 3.67594655 0.918986637 4 1.558261774 1.558261774 1 NA NA 0 NA NA 0 4 NA 1 1 8.60E-37 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 72400456 A G - - - - - - 28 0 0 35 20 57.1 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 2.464912281 1.23245614 2 NA NA 1 NA NA 1 4 NA 1 1 2.88E-37 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 72440779 T C - - - - - - 56 0 0 40 9 22.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.123203593 1.123203593 1 1.615582419 1.615582419 1 NA NA 1 NA NA 0 4 NA 1 1 4.64E-13 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 72451570 A T RGS6 CCDS9808.1 r.? - - intronic 45 0 0 39 4 10.3 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.411177645 0.411177645 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 119270417 G A ASTN2 CCDS48009.1 r.? - - intronic 32 0 0 34 12 35.3 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.409181637 1.409181637 1 0.797122807 0.797122807 1 NA NA 0 NA NA 1 4 NA 1 1 1.21E-19 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 122233347 T A - - - - - - 45 0 0 37 9 24.3 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.97005988 0.97005988 1 2.768385965 0.922795322 3 NA NA 0 NA NA 1 4 NA 1 1 2.14E-13 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 131853589 G A CRAT CCDS6919.1 r.? - - downstream 21 0 0 26 5 19.2 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.766467066 0.766467066 1 0.355473684 0.355473684 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000188 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 72529509 A G - - - - - - 55 0 0 38 5 13.2 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.790946108 0.790946108 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 136502954 G T DBH CCDS6977.2 r.? - - intronic 18 0 0 49 7 14.3 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 1.571858283 1.571858283 1 1.400350877 1.400350877 1 NA NA 1 NA NA 0 4 NA 1 1 5.58E-09 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 72669049 G T HEXA CCDS10243.1 r.? - - upstream 44 0 0 30 6 20 31 1 3.2 217 0 0 114 27 23.7 134 2 1.5 0.387879672 TRUE TRUE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.998403194 0.998403194 1 0.322097589 0.322097589 1 1.183107784 1.183107784 1 0.150983245 0.150983245 1 4 2 1 1 8.37E-09 5.42E-37 0.143917729 0.14516169 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 15 72671494 G C HEXA CCDS10243.1 r.? - - upstream 35 0 0 29 7 24.1 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.203075848 1.203075848 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.11E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 72686567 G A TRHDE CCDS9004.1 r.? - - intronic 52 0 0 38 6 15.8 47 8 17 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.788738523 0.788738523 1 1.66122807 1.66122807 1 NA NA 1 NA NA 1 4 NA 1 1 3.76E-08 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 138059333 A G - - - - - - 27 0 0 41 13 31.7 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 3.167469062 1.055823021 3 1.923044851 1.923044851 1 NA NA 1 NA NA 0 4 NA 1 1 1.89E-20 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 72788915 C A - - - - - - 34 0 0 29 9 31 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.23752495 1.23752495 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-14 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 72797973 T C FCHSD2 CCDS8218.2 r.? - - intronic 78 0 0 43 10 23.3 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.451714234 1.451714234 1 0.528943856 0.528943856 1 NA NA 0 NA NA 0 4 NA 1 1 1.61E-14 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 72850706 C A - - - - - - 40 0 0 35 17 48.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.91211976 1.45605988 2 2.068210526 2.068210526 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-30 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 72857121 C G - - - - - - 45 0 0 38 9 23.7 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.183107784 1.183107784 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 72902559 G A TRHDE CCDS9004.1 r.? - - intronic 38 0 0 38 6 15.8 35 0 0 0 0 NA 4 0 0 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.788738523 0.788738523 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 3.76E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 72998326 G C GXYLT2 CCDS46870.1 r.? - - intronic 30 0 0 36 11 30.6 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.635921524 1.635921524 1 0.906438596 0.906438596 1 NA NA 0 NA NA 1 4 NA 1 1 2.62E-17 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 73013510 G C - - - - - - 55 0 0 59 5 8.5 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.509321357 0.509321357 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 73063192 C T - - - - - - 63 0 0 38 11 28.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.153692615 1.153692615 1 0.605859649 0.605859649 1 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 73075994 C G - - - - - - 50 0 0 30 16 53.3 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.127744511 1.063872255 2 2.596491228 1.298245614 2 NA NA 1 NA NA 1 4 NA 1 1 2.08E-29 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 73078750 C G - - - - - - 27 0 0 31 10 32.3 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.289421158 1.289421158 1 0.420192982 0.420192982 1 NA NA 0 NA NA 1 4 NA 1 1 3.94E-16 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 73082912 T A - - - - - - 21 0 0 46 9 19.6 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.97843513 0.97843513 1 1.136543446 1.136543446 1 NA NA 1 NA NA 0 4 NA 1 1 1.82E-12 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 73082913 C A - - - - - - 21 0 0 45 10 22.2 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.108227545 1.108227545 1 0.939292104 0.939292104 1 NA NA 1 NA NA 0 4 NA 1 1 2.66E-14 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 2622114 G T - - - - - - 55 0 0 27 11 40.7 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.624750499 0.81237525 2 2.807017544 1.403508772 2 NA NA 1 NA NA 1 4 NA 1 1 5.92E-19 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 73179953 A C - - - - - - 55 0 0 52 16 30.8 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.537540918 0.768770459 2 2.207336445 1.103668222 2 NA NA 1 NA NA 0 4 NA 1 1 1.33E-24 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 73196607 G T - - - - - - 59 0 0 47 9 19.1 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.95347505 0.95347505 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.24E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 73213427 G C - - - - - - 65 0 0 48 4 8.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.414337325 0.414337325 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 73258886 T A - - - - - - 34 0 0 58 16 27.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.653796407 0.826898204 2 1.772957169 1.772957169 1 NA NA 0 NA NA 0 4 NA 1 1 1.00E-23 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 73264706 G T - - - - - - 41 1 2.4 44 16 36.4 26 2 7.7 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.817093812 0.908546906 2 0.906438596 0.906438596 1 0 NA 0 NA NA 1 4 NA 0.18577148 1 5.57E-26 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 73345582 C G DPF3 CCDS45133.1 r.? - - intronic 35 0 0 39 7 17.9 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.714570858 0.714570858 1 0.361561404 0.361561404 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 73365728 G A PLEKHB1 CCDS44672.1 r.? - - intronic 24 0 0 35 9 25.7 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.601247031 1.601247031 1 0.859533767 0.859533767 1 NA NA 1 NA NA 0 4 NA 1 1 1.23E-13 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 73370603 G T GRB2 CCDS11721.1 r.? - - intronic 30 0 0 53 17 32.1 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 2.473750194 1.08230606 2.285629071 0.415536473 0.415536473 1 NA NA 0 NA NA 1 4 NA 1 1 2.08E-26 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 73444340 T A TRPM3 CCDS43835.1 r.? - - intronic 59 0 0 30 9 30 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.19760479 1.19760479 1 0.366245614 0.366245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.54E-14 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 73476346 A G NEO1 CCDS10247.1 r.? - - intronic 37 0 0 34 5 14.7 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.733826347 0.733826347 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 73503168 G C PDZRN3 CCDS33789.1 r.? - - intronic 54 0 0 46 13 28.3 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.512960102 1.512960102 1 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 1.07E-19 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 73538496 T A PDZRN3 CCDS33789.1 r.? - - intronic 42 0 0 37 6 16.2 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.866076101 0.866076101 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 73540684 C G - - - - - - 49 0 0 42 12 28.6 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.427716567 1.427716567 1 1.319210526 1.319210526 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-18 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 73565721 C A - - - - - - 55 0 0 49 20 40.8 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.036742515 1.018371257 2 2.542736842 0.847578947 3 NA NA 0 NA NA 1 4 NA 1 1 2.35E-33 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 73631402 A G - - - - - - 68 0 0 45 6 13.3 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.663938124 0.663938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 73632053 A G LAT2 CCDS5566.2 r.? - - intronic 17 0 0 69 7 10.1 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.908193613 0.908193613 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 73632226 G A ALMS1 CCDS42697.1 r.? - - intronic 40 0 0 42 13 31 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 2.208245614 1.104122807 2 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 4132880 T C - - - - - - 14 0 0 15 5 33.3 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 1.526315789 1.526315789 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000009 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 5411624 C T UCN3 CCDS7065.1 r.? - - intronic 62 0 0 45 11 24.4 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.974051896 0.974051896 1 1.385964912 1.385964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.24E-16 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 73706960 C A - - - - - - 31 0 0 50 11 22 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.098243513 1.098243513 1 0.327072357 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.52E-15 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 73725003 T C KCNB2 CCDS6209.1 r.? - - intronic 73 0 0 40 7 17.5 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.873602794 0.873602794 1 0.685683236 0.685683236 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-09 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 6027912 G T - - - - - - 35 0 0 54 15 27.8 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.109780439 1.109780439 1 1.798245614 0.899122807 2 NA NA 1 NA NA 1 4 NA 1 1 2.20E-22 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 73744718 T A KCNB2 CCDS6209.1 r.? - - intronic 54 0 0 42 8 19 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.948483034 0.948483034 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.96E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 73756070 T C - - - - - - 45 0 0 37 15 40.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.021766467 1.010883234 2 2.789947368 0.929982456 3 NA NA 0 NA NA 1 4 NA 1 1 2.58E-25 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 73791849 A T - - - - - - 36 0 0 52 18 34.6 38 13 34.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.073237525 1.036618762 2 3.684 1.842 2 NA NA 1 NA NA 1 4 NA 1 1 1.39E-28 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 9380132 C T ENSG00000224998 ENST00000426375 r.? - - intronic 35 0 0 33 13 39.4 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.572854291 0.786427146 2 0.701754386 0.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 6.37E-22 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 73809340 A C - - - - - - 53 0 0 36 6 16.7 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.892806845 0.892806845 1 0.329614035 0.329614035 1 NA NA 0 NA NA 1 4 NA 1 1 2.68E-08 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 73863190 G A NPTN CCDS10249.1 r.? - - intronic 46 0 0 38 6 15.8 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.788738523 0.788738523 1 0.946161669 0.946161669 1 NA NA 1 NA NA 0 4 NA 1 1 3.76E-08 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 73913222 C A - - - - - - 52 0 0 45 21 46.7 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.331271457 1.165635729 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.60E-36 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 73970736 C T GTF2IRD1 CCDS5571.1 r.? - - intronic 19 0 0 45 14 31.1 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.377205361 6 3 4 3 2 0.622794639 1 4 NA 3 NA 0.377205361 NA 2.602827833 1.094910804 2.377205361 3.754947368 0.938736842 4 NA NA 0 NA NA 0 4 NA 1 1 8.81E-22 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 74044463 T G PGM2L1 CCDS8231.1 r.5399a>c c.? p.? 3'UTR variant 52 0 0 37 7 18.9 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.177570774 1.177570774 1 0.226690224 NA 0 NA NA 0 NA NA 0 NA NA 1 1 7.05E-10 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 74056826 C T TRPM3 ENST00000357533 r.? - - intronic 52 0 0 48 14 29.2 10 1 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.165668663 1.165668663 1 1.077192982 1.077192982 1 NA NA 0 NA NA 1 4 NA 1 1 2.51E-21 1 0.04888987 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 11286396 C A CELF2 CCDS44354.1 r.? - - intronic 23 0 0 27 7 25.9 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.033932136 1.033932136 1 0.921052632 0.921052632 1 NA NA 1 NA NA 1 4 NA 1 1 6.36E-11 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 74195300 T C - - - - - - 43 0 0 31 6 19.4 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.20872344 1.20872344 1 0.321144484 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.03E-08 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 74210939 T G RDH10 CCDS6213.1 r.? - - intronic 22 0 0 34 6 17.6 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.87859481 0.87859481 1 0.967470867 0.967470867 1 NA NA 1 NA NA 0 4 NA 1 1 1.86E-08 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 74217788 A G - - - - - - 37 0 0 50 19 38 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.276966068 1.138483034 2 2.876105263 1.438052632 2 NA NA 1 NA NA 1 4 NA 1 1 5.00E-31 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 74289430 T A - - - - - - 53 0 0 50 7 14 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.558882236 0.558882236 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.46E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 74312295 G A - - - - - - 43 0 0 35 11 31.4 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.567493014 1.567493014 1 1.70951163 1.70951163 1 NA NA 1 NA NA 0 4 NA 1 1 1.82E-17 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 74370260 C T - - - - - - 50 0 0 35 17 48.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.94011976 0.97005988 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-30 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 18399907 C G - - - - - - 23 0 0 31 10 32.3 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.289421158 1.289421158 1 0.298245614 0.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 23376162 G A - - - - - - 41 0 0 31 17 54.8 27 5 18.5 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.18762475 1.093812375 2 1.622807018 1.622807018 1 0 0 1 NA NA 1 4 NA 1 1 1.89E-31 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 74429801 G A MTHFD2 CCDS1935.2 r.? - - intronic 22 0 0 41 14 34.1 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.043277445 1.021638723 2 3.08077193 1.540385965 2 NA NA 1 NA NA 1 4 NA 1 1 1.90E-22 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 24919290 C G ARHGAP21 CCDS7144.2 r.? - - intronic 54 0 0 27 12 44.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-21 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 74471321 C A STAU2 CCDS6214.1 r.? - - intronic 37 0 0 34 17 50 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.496007984 1.248003992 2 1.944334656 1.944334656 1 NA NA 1 NA NA 0 4 NA 1 1 1.64E-30 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 74536223 G C - - - - - - 50 0 0 35 13 37.1 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.852037924 0.926018962 2 1.856666667 1.856666667 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-21 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 74562553 G A CNTN3 CCDS33790.1 r.? - - intronic 48 0 0 50 13 26 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.389998681 1.389998681 1 0.364929825 0.364929825 1 NA NA 0 NA NA 1 4 NA 1 1 3.65E-19 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 30899214 A C LYZL2 CCDS7167.2 r.? - - downstream 48 0 0 31 17 54.8 38 12 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.18762475 1.093812375 2 2.771929825 1.385964912 2 NA NA 1 NA NA 1 4 NA 1 1 1.89E-31 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 74599520 G C CCDC109A CCDS7317.1 r.? - - intronic 17 0 0 34 13 38.2 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 7.325791148 2 4 2 3 0.702777737 0.674208852 3 5 2 3 0.297222263 0.325791148 2.402489004 1.04582349 2.297222263 2.706762427 0.902254142 3 NA NA 0 NA NA 0 4 NA 1 1 1.03E-21 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 33625483 C T NRP1 CCDS7177.1 r.? - - upstream 12 0 0 41 8 19.5 12 2 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.778443114 0.778443114 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.22E-11 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 74631893 G A CCDC33 CCDS42058.1 r.? - - downstream 17 0 0 33 7 21.2 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.058307385 1.058307385 1 2.395600821 1.044462895 2.293619843 NA NA 0 NA NA 0 4 NA 1 1 2.98E-10 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 74678641 A C SPCS2 CCDS44681.1 r.? - - intronic 40 0 0 47 12 25.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.588785965 1.588785965 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.09E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 74707893 A T CXCL6 CCDS3560.1 r.? - - downstream 50 0 0 41 10 24.4 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.218051896 1.218051896 1 0.735912803 0.735912803 1 NA NA 1 NA NA 0 4 NA 1 1 9.51E-15 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 74733105 C G - - - - - - 53 0 0 50 5 10 45 1 2.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0.236982456 0.236982456 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000549 1 0.201934322 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 74765442 C T TNNI3K CCDS44161.1 r.? - - intronic 64 0 0 43 5 11.6 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.579073852 0.579073852 1 0.588596491 0.588596491 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000257 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 74848932 A C GDA CCDS6641.1 r.? - - intronic 59 0 0 30 12 40 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.596806387 1.596806387 1 0.312385965 0.312385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.94E-20 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 74862289 C A SLCO2B1 CCDS8235.1 r.250c>a c.? p.? 5'UTR variant 29 0 0 41 10 24.4 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.5202501 1.5202501 1 0.991769731 0.991769731 1 NA NA 1 NA NA 0 4 NA 1 1 9.51E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 74908454 G T SEMA4F CCDS1955.1 r.3580g>u c.? p.? 3'UTR variant 40 0 0 48 19 39.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.372838323 1.186419162 2 2.606807018 1.303403509 2 NA NA 1 NA NA 1 4 NA 1 1 1.92E-31 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 74930421 C G - - - - - - 58 0 0 40 15 37.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 2.208245614 1.104122807 2 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 74949391 C T TNNI3K CCDS44161.1 r.? - - intronic 54 0 0 46 9 19.6 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 0.529736842 0.529736842 1 NA NA 0 NA NA 1 4 NA 1 1 1.82E-12 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 34825142 T A PARD3 CCDS7178.1 r.? - - intronic 48 0 0 51 6 11.8 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.742130111 0.742130111 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000232 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 74991166 T G MTHFD2L ENST00000433372 r.12u>g c.? p.? 5'UTR variant 49 0 0 43 15 34.9 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.742213573 0.871106786 2 1.326460115 1.326460115 1 NA NA 1 NA NA 0 4 NA 1 1 4.05E-24 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 74993828 G A - - - - - - 55 0 0 45 19 42.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.106630739 1.053315369 2 2.687501761 1.171729382 2.293619843 NA NA 1 NA NA 1 4 NA 1 1 4.11E-32 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 75062090 C T ARRB1 CCDS44684.1 r.? - - intronic 20 1 5 41 15 36.6 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 2.280375149 1.140187575 2 0.500607578 NA 0 NA NA 0 NA NA 0 NA NA 0.09538952 1 1.71E-24 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 75079593 T C POM121C CCDS47617.1 r.? - - intronic 41 0 0 41 8 19.5 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.377205361 6 3 4 3 2 0.622794639 1 4 NA 3 NA 0.377205361 NA 1.631998159 1.631998159 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 3.22E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 34839981 G A PARD3 CCDS7178.1 r.? - - intronic 53 0 0 38 11 28.9 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.817589849 0.908794924 2 3.716315789 1.858157895 2 NA NA 0 NA NA 0 4 NA 1 1 5.19E-17 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 75098243 C A HK2 CCDS1956.1 r.? - - intronic 52 0 0 46 6 13 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 75111011 G T - - - - - - 42 0 0 33 7 21.2 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.058307385 1.058307385 1 1.502867367 1.502867367 1 NA NA 1 NA NA 0 4 NA 1 1 2.98E-10 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 75134403 A G - - - - - - 54 0 0 57 20 35.1 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.103197605 1.051598802 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 9.67E-32 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 75142629 G C - - - - - - 31 0 0 24 8 33.3 19 5 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 2.307017544 1.153508772 2 NA NA 1 NA NA 1 4 NA 1 1 2.68E-13 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 75152100 G T - - - - - - 58 0 0 33 12 36.4 39 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 0.228070175 0.228070175 1 NA NA 1 NA NA 1 4 NA 1 1 7.86E-20 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 75222200 A T - - - - - - 48 0 0 56 17 30.4 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.821572854 0.910786427 2 0.667859649 0.667859649 1 NA NA 1 NA NA 1 4 NA 1 1 6.22E-26 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 75238381 G T - - - - - - 32 0 0 38 8 21.1 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.053315369 1.053315369 1 0.483146384 0.483146384 1 NA NA 0 NA NA 0 4 NA 1 1 1.67E-11 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 75246962 A G - - - - - - 44 0 0 53 9 17 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 7.10E-12 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 75255766 G A PPP3CB CCDS44437.1 r.17c>u c.? p.? 5'UTR variant 13 0 0 33 20 60.6 9 4 44.4 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 7.325791148 2 4 2 3 0.702777737 0.674208852 3 5 2 3 0.297222263 0.325791148 3.811278368 1.659081243 2.297222263 6.259388112 1.446992677 4.325791148 NA NA 0 NA NA 0 4 NA 1 1 5.14E-38 1 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 75340148 G A - - - - - - 51 0 0 52 23 44.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.206471058 1.103235529 2 1.524421053 1.524421053 1 NA NA 1 NA NA 1 4 NA 1 1 3.66E-39 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 36286912 T A - - - - - - 69 0 0 34 15 44.1 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.77355406 1.207351202 2.297222263 2.154385965 1.077192982 2 NA NA 1 NA NA 0 4 NA 1 1 5.18E-26 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 72058292 G C - - - - - - 18 0 0 60 5 8.3 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.746337325 0.746337325 1 0.306526316 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000136 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 75567010 T C - - - - - - 40 0 0 45 8 17.8 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.888578842 0.888578842 1 0.808595549 0.808595549 1 NA NA 1 NA NA 0 4 NA 1 1 7.14E-11 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 75567188 C G UVRAG CCDS8241.1 r.? - - intronic 13 0 0 47 25 53.2 26 11 42.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 3.31464366 1.10488122 3 3.995415201 1.9977076 2 NA NA 0 NA NA 0 4 NA 1 1 3.98E-45 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 75603064 G A - - - - - - 59 0 0 36 8 22.2 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-11 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 81370092 A T HGF CCDS5597.1 r.? - - intronic 51 0 0 62 12 19.4 44 2 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.550451098 1.550451098 1 0.574736842 0.574736842 1 NA NA 1 NA NA 1 4 NA 1 1 4.19E-16 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 82326160 C A - - - - - - 51 0 0 46 7 15.2 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 36618347 C T - - - - - - 60 0 0 53 5 9.4 49 3 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.591188394 0.591188394 1 0.657087719 0.657087719 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000734 1 0.001939399 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 75721104 C T - - - - - - 32 0 0 85 10 11.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 1.297057884 1.297057884 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.17E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 75781047 G C FAM176A CCDS1959.1 r.? - - intronic 52 0 0 47 11 23.4 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.402131737 1.402131737 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 4 NA 1 1 7.21E-16 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 75785999 A C - - - - - - 46 0 0 42 15 35.7 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.782149701 0.89107485 2 1.80344084 1.80344084 1 NA NA 1 NA NA 0 4 NA 1 1 2.65E-24 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 75788233 A T - - - - - - 47 0 0 37 8 21.6 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.294275449 1.294275449 1 1.586982641 1.586982641 1 NA NA 0 NA NA 0 4 NA 1 1 1.33E-11 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 75794092 G A - - - - - - 37 0 0 32 7 21.9 25 10 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.874251497 0.874251497 1 4.30877193 1.43625731 3 NA NA 0 NA NA 1 4 NA 1 1 2.36E-10 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 75795496 G A PTPN9 CCDS10280.1 r.? - - intronic 15 0 0 27 10 37 14 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.847045908 0.923522954 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 7.62E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 53759020 C T PRKG1 CCDS7244.1 r.? - - intronic 46 0 0 47 11 23.4 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.471681746 1.471681746 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 4 NA 1 1 7.21E-16 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 75903397 C T IQGAP2 CCDS34188.1 r.? - - intronic 37 0 0 49 13 26.5 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 0.793942116 2 2.068210526 2.068210526 1 NA NA 1 NA NA 1 4 NA 1 1 2.71E-19 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 75945844 C T - - - - - - 37 0 0 38 20 52.6 17 5 29.4 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 4.053559508 1.013389877 4 3.817741346 1.008273342 3.786415041 7.706386897 1.541277379 5 NA NA 0 4 NA 1 1 2.94E-36 0.000025 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 75950070 A G - - - - - - 56 0 0 54 23 42.6 33 9 27.3 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.126598802 1.063299401 2 2.667736842 1.333868421 2 NA NA 1 0 0 1 4 NA 1 1 1.12E-38 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 75973494 C A PARM1 CCDS47077.1 r.3182c>a c.? p.? 3'UTR variant 42 0 0 33 8 24.2 34 0 0 177 0 0 177 32 18.1 210 0 0 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.208067864 1.208067864 1 0 NA 0 0.90355489 0.90355489 1 0 NA 0 NA NA 1 1 4.85E-12 1.90E-39 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 76016268 C G ROBO2 ENST00000487694 r.? - - intronic 58 0 0 50 10 20 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.069229754 1.069229754 1 1.907052632 1.907052632 1 NA NA 0 NA NA 1 4 NA 1 1 8.36E-14 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 76037305 T A ENSG00000078687 CCDS45799.1 r.? - - intronic 34 0 0 55 38 69.1 16 4 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 5.325113346 1.065022669 5 3.246378696 1.082126232 3 NA NA 0 NA NA 1 4 NA 1 1 2.29E-74 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 76039056 G A - - - - - - 54 0 0 46 15 32.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 1.35E-23 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 76130120 C T - - - - - - 64 0 0 42 16 38.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.901958084 0.950979042 2 2.742859649 0.91428655 3 NA NA 0 NA NA 1 4 NA 1 1 2.25E-26 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 76149344 C G - - - - - - 47 0 0 36 7 19.4 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 1.250807018 1.250807018 1 NA NA 1 NA NA 1 4 NA 1 1 5.74E-10 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 55252371 C T - - - - - - 59 0 0 55 14 25.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.603755749 0.801877874 2 2.854561404 1.427280702 2 NA NA 1 NA NA 0 4 NA 1 1 2.19E-20 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 76155543 T A - - - - - - 49 0 0 55 9 16.4 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.982690619 0.982690619 1 0.754035088 0.754035088 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-11 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 76170129 C T - - - - - - 48 0 0 37 7 18.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.943491018 0.943491018 1 2.107175439 2.107175439 1 NA NA 0 NA NA 1 4 NA 1 1 7.05E-10 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 76171818 T A - - - - - - 45 0 0 41 21 51.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.555912176 1.277956088 2 2.142491228 1.071245614 2 NA NA 0 NA NA 1 4 NA 1 1 1.17E-37 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 55752393 A G PCDH15 CCDS44404.1 r.? - - intronic 53 0 0 55 18 32.7 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.056580902 1.028290451 2 3.016140351 1.508070175 2 NA NA 0 NA NA 0 4 NA 1 1 4.61E-28 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 55885991 C A PCDH15 CCDS44404.1 r.? - - intronic 40 0 0 46 8 17.4 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.094327452 1.094327452 1 2.154385965 2.154385965 1 NA NA 1 NA NA 0 4 NA 1 1 8.61E-11 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 76256776 G A C11orf30 CCDS8244.1 r.? - - intronic 58 0 0 44 13 29.5 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.238517227 2.673496181 3 2 1 0 0.761482773 0.326503819 3 2 2 1 0.238517227 0.673496181 1.838007293 1.04344324 1.761482773 1.690731255 1.690731255 1 NA NA 1 NA NA 0 4 NA 1 1 5.49E-20 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 59347236 A G - - - - - - 46 0 0 55 16 29.1 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.830168325 0.915084163 2 2.046666667 1.023333333 2 NA NA 0 NA NA 1 4 NA 1 1 3.78E-24 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 76337586 T C HNF4G ENST00000354370 r.? - - intronic 28 0 0 33 8 24.2 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.208067864 1.208067864 1 1.08018592 1.08018592 1 NA NA 1 NA NA 0 4 NA 1 1 4.85E-12 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 59476931 G T - - - - - - 61 0 0 57 4 7 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.440246676 1.481203567 0.297222263 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000199821 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 76349687 C T TTLL5 CCDS32124.1 r.? - - intronic 50 0 0 44 7 15.9 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.634730539 0.634730539 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92035124 A T ANKIB1 CCDS47639.1 r.? - - downstream 66 0 0 45 16 35.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 1.885087719 1.885087719 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-26 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 69323778 T C CTNNA3 CCDS7269.1 r.? - - intronic 44 0 0 51 16 31.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 1.974820805 0.987410402 2 2.219017544 1.109508772 2 NA NA 0 NA NA 1 4 NA 1 1 9.28E-25 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 76393065 G A ROBO2 ENST00000487694 r.? - - intronic 63 0 0 43 19 44.2 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.362997757 1.181498878 2 3.920052632 1.306684211 3 NA NA 0 NA NA 1 4 NA 1 1 1.36E-32 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 76403845 G C CNTNAP4 ENST00000307431 r.? - - intronic 53 0 0 39 9 23.1 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.384155689 1.384155689 1 0.99186415 0.99186415 1 NA NA 0 NA NA 0 4 NA 1 1 3.62E-13 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 76404025 G A - - - - - - 19 0 0 24 7 29.2 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.165668663 1.165668663 1 1.192982456 1.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-11 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 76422665 G C ADK CCDS7344.1 r.? - - intronic 38 0 0 69 4 5.8 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 0.637536926 0.637536926 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000416985 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 76427330 G A ADK CCDS7344.1 r.? - - intronic 27 0 0 55 11 20 30 3 10 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 2.198403194 1.099201597 2 1.409772097 1.409772097 1 0 0 1 NA NA 0 4 NA 1 1 4.77E-15 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 71422425 C T - - - - - - 29 0 0 45 7 15.6 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.981121164 0.981121164 1 2.768385965 1.384192982 2 NA NA 1 NA NA 0 4 NA 1 1 0.000000003 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 76459773 C G - - - - - - 50 0 0 31 6 19.4 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.38822692 1.304475247 1 1 0 0 0.61177308 0.695524753 2 2 0 0 0.38822692 0.304475247 0.65576712 0.65576712 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 76475398 G A - - - - - - 29 0 0 89 14 15.7 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 1.725746507 0.862873253 2 0.803570095 0.803570095 1 NA NA 1 NA NA 0 4 NA 1 1 3.28E-17 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 76487172 G A - - - - - - 50 0 0 63 17 27 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.617844311 0.808922156 2 1.497298246 1.497298246 1 NA NA 1 NA NA 1 4 NA 1 1 6.22E-25 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 76500955 G C - - - - - - 44 0 0 47 20 42.6 38 11 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.552598802 1.276299401 2 3.113087719 1.55654386 2 NA NA 1 NA NA 1 4 NA 1 1 8.18E-34 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 76149914 T C ADK CCDS7344.1 r.? - - intronic 49 0 0 67 13 19.4 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 2.132451098 1.066225549 2 3.524430243 1.05972687 3.325791148 NA NA 1 NA NA 0 4 NA 1 1 2.41E-17 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 76528714 T C - - - - - - 36 0 0 29 6 20.7 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.033347305 1.033347305 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 76601227 G C ST6GALNAC3 CCDS672.1 r.? - - intronic 47 0 0 35 11 31.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.567493014 1.567493014 1 2.013 2.013 1 NA NA 0 NA NA 1 4 NA 1 1 1.82E-17 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 76631851 A T - - - - - - 49 0 0 40 16 40 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.996806387 0.998403194 2 1.70951163 1.70951163 1 NA NA 1 NA NA 0 4 NA 1 1 8.56E-27 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 77640765 A G C10orf11 CCDS7351.1 r.? - - intronic 51 0 0 67 18 26.9 48 7 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 2.956852295 0.985617432 3 2.058267262 1.029133631 2 NA NA 1 NA NA 0 4 NA 1 1 2.83E-26 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 76673902 C A - - - - - - 38 0 0 55 5 9.1 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545273453 0.545273453 1 0.732491228 0.732491228 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000883 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 76676200 T A - - - - - - 34 0 0 45 21 46.7 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.331271457 1.165635729 2 0.420192982 0.420192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-36 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 79162442 C A KCNMA1 CCDS7352.1 r.? - - intronic 32 0 0 80 20 25 38 4 10.5 201 0 0 302 60 19.9 237 29 12.2 1.86E-22 TRUE TRUE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 2.748003992 0.916001331 3 1.480260702 1.480260702 1 2.187411178 1.093705589 2 1.719921959 0.859960979 2 4 3 1 1 2.53E-28 3.71E-75 0.0000403 9.51E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 9 76691634 A C - - - - - - 40 0 0 25 9 36 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 0.398561404 0.398561404 1 NA NA 0 NA NA 1 4 NA 1 1 3.71E-15 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 76707286 C T - - - - - - 52 0 0 46 14 30.4 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.821572854 0.910786427 2 1.84734698 1.84734698 1 NA NA 0 NA NA 0 4 NA 1 1 1.26E-21 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 76781129 A G ROBO2 ENST00000487694 r.? - - intronic 54 0 0 39 10 25.6 47 4 8.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.368614085 1.368614085 1 1.000614035 1.000614035 1 NA NA 0 NA NA 1 4 NA 1 1 5.44E-15 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 76789275 T C - - - - - - 46 0 0 52 19 36.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.187085828 1.093542914 2 2.359052632 1.179526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.24E-30 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 76806053 C T - - - - - - 35 0 0 35 5 14.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.713858283 0.713858283 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 76881129 A G ESRRB CCDS9850.1 r.? - - intronic 20 0 0 30 11 36.7 29 6 20.7 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.46506986 1.46506986 1 2.022789474 2.022789474 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 76909318 T A ROBO2 ENST00000487694 r.? - - intronic 36 0 0 42 10 23.8 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.272383408 1.272383408 1 0.447333333 0.447333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.24E-14 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 76918806 G C - - - - - - 31 0 0 35 15 42.9 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.57057485 1.285287425 2 2.488315789 1.244157895 2 NA NA 1 NA NA 1 4 NA 1 1 9.02E-26 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 76979095 A G VDAC2 CCDS7348.1 r.550a>g c.337A>G p.T113A missense 45 0 0 129 20 15.5 68 5 7.4 123 0 0 618 87 14.1 369 43 11.7 1.28E-31 TRUE TRUE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 1.703762475 0.851881238 2 1.043231352 1.043231352 1 1.549874251 0.774937126 2 1.649433354 0.824716677 2 4 3 1 1 8.03E-24 2.51E-94 0.0000251 7.20E-44 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 12 77012178 G A - - - - - - 51 0 0 30 13 43.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.161542914 1.080771457 2 2.071649123 1.035824561 2 NA NA 1 NA NA 1 4 NA 1 1 1.35E-22 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 77053739 T C - - - - - - 73 0 0 32 15 46.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.872255489 0.936127745 2 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.59E-26 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 87936301 G T GRID1 CCDS31236.1 r.? - - intronic 48 0 0 32 10 31.2 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.245508982 1.245508982 1 0.324561404 0.324561404 1 NA NA 1 NA NA 1 4 NA 1 1 5.70E-16 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 77067906 G T - - - - - - 62 0 0 45 5 11.1 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 77074336 G T - - - - - - 32 0 0 33 10 30.3 32 1 3.1 54 0 0 333 41 12.3 305 18 5.9 3.22E-09 FALSE TRUE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.512580838 1.512580838 1 0.291180552 NA 0 0.614017964 0.614017964 1 0.554182341 0.892415747 0.620991218 NA 3 1 1 8.14E-16 6.57E-43 0.14819814 4.78E-14 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 2 77086058 C A LRRTM4 CCDS46346.1 r.? - - intronic 59 0 0 52 11 21.2 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.270307385 1.270307385 1 0.355473684 0.355473684 1 NA NA 1 NA NA 1 4 NA 1 1 2.44E-15 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 77094244 T C - - - - - - 31 0 0 39 8 20.5 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.023363273 1.023363273 1 0.791526316 0.791526316 1 NA NA 1 NA NA 1 4 NA 1 1 2.09E-11 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 77104344 T C - - - - - - 49 0 0 58 13 22.4 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.790211577 0.895105788 2 1.966877193 1.966877193 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-18 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 77119809 T A - - - - - - 63 0 0 37 4 10.8 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.539137725 0.539137725 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 77129362 G A - - - - - - 10 0 0 37 14 37.8 21 4 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.886982036 0.943491018 2 1.784654998 1.784654998 1 NA NA 1 NA NA 0 4 NA 1 1 3.35E-23 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 77155581 C T - - - - - - 57 0 0 37 5 13.5 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 1.378807018 1.378807018 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000119 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 103965020 G A - - - - - - 24 0 0 27 12 44.4 19 7 36.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 3.228070175 1.614035088 2 NA NA 1 NA NA 1 4 NA 1 1 3.96E-21 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 108468823 T C SORCS1 CCDS7559.1 r.? - - intronic 42 0 0 45 34 75.6 41 14 34.1 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 3.017964072 1.508982036 2 2.99122807 1.495614035 2 3.992015968 3.992015968 1 NA NA 1 4 NA 1 1 5.60E-69 0.005 1.90E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 118962906 G A KCNK18 CCDS7598.1 r.? - - intronic 31 0 0 36 12 33.3 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 0.701754386 0.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 2.73E-19 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 77247551 G C - - - - - - 32 0 0 31 8 25.8 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.02994012 1.02994012 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.78E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 77334875 C A RSBN1L CCDS43607.1 r.? - - intronic 32 0 0 49 5 10.2 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.815185629 0.815185629 1 1.162245614 1.162245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000496 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 77336621 G T LRRTM4 CCDS46346.1 r.? - - intronic 59 0 0 55 5 9.1 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545273453 0.545273453 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 77366789 G A RSF1 CCDS8253.1 r.? - - downstream 37 0 0 31 14 45.2 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.256391218 1.128195609 2 1.936312331 0.968156166 2 NA NA 1 NA NA 0 4 NA 1 1 1.49E-24 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 77427064 G C ENSG00000167281 CCDS45805.1 r.? - - intronic 34 0 0 25 5 20 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 1.541277379 1.541277379 1 1.688116922 1.688116922 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000153 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 77429445 C T ENSG00000167281 CCDS45805.1 r.? - - intronic 19 0 0 19 12 63.2 9 3 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 4.870436519 0.974087304 5 4.324176423 1.081044106 4 NA NA 0 NA NA 1 4 NA 1 1 1.19E-23 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 77445480 C T ENSG00000167281 CCDS45805.1 r.? - - intronic 15 0 0 47 33 70.2 26 12 46.2 234 0 0 43 26 60.5 54 14 25.9 2.23E-16 TRUE TRUE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 5.409883602 1.08197672 5 5.99930783 1.199861566 5 4.662364073 0.932472815 5 3.363248329 0.888240801 3.786415041 4 3 1 1 3.72E-65 5.78E-49 2.21E-21 1.64E-20 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 17 77445512 A T ENSG00000167281 CCDS45805.1 r.? - - intronic 22 0 0 45 34 75.6 20 8 40 221 0 0 46 25 54.3 53 11 20.8 5.18E-12 TRUE TRUE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 5.826028494 1.165205699 5 5.194205913 1.038841183 5 4.184568085 0.976418634 4.285629071 2.700987075 0.969341263 2.786415041 4 3 1 1 5.60E-69 1.87E-45 4.66E-14 3.07E-15 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 7 77493656 A G PHTF2 CCDS47622.1 r.? - - intronic 43 0 0 55 14 25.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.037964072 1.018982036 2 2.324491228 1.162245614 2 NA NA 1 NA NA 1 4 NA 1 1 2.19E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 123431287 T C - - - - - - 35 0 0 35 7 20 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 77589327 C T SHROOM3 CCDS3579.2 r.? - - intronic 19 0 0 25 11 44 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.196487026 1.098243513 2 1.817068651 1.817068651 1 NA NA 1 NA NA 0 4 NA 1 1 2.04E-19 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 133132590 G C - - - - - - 47 0 0 35 9 25.7 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025948104 1.025948104 1 0.324561404 0.324561404 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-13 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 77659133 A C PIGK CCDS674.1 r.? - - intronic 49 0 0 47 11 23.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.168131737 1.168131737 1 1.624526316 1.624526316 1 NA NA 0 NA NA 1 4 NA 1 1 7.21E-16 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 77742356 T C ZFHX4 CCDS47878.1 r.? - - intronic 36 0 0 45 15 33.3 15 1 6.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.662341317 0.831170659 2 0.62932571 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.14E-24 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 77753798 C A - - - - - - 55 0 0 37 10 27 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.077844311 1.077844311 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.01E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 77766620 C T - - - - - - 52 0 0 34 8 23.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.256344961 1.256344961 1 1.859964912 1.859964912 1 NA NA 0 NA NA 1 4 NA 1 1 6.32E-12 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 77788997 T C - - - - - - 58 0 0 33 14 42.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.38822692 1.304475247 1 1 0 0 0.61177308 0.695524753 2 2 0 0 0.38822692 0.304475247 1.433222985 1.433222985 1 1.187231546 1.187231546 1 NA NA 1 NA NA 0 4 NA 1 1 4.57E-24 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 77791820 C T MAGI2 CCDS5594.1 r.? - - intronic 22 0 0 40 15 37.5 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.997005988 0.999001996 3 4.840561404 1.210140351 4 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 135153970 C T CALY CCDS7678.1 r.? - - upstream 29 0 0 35 12 34.3 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.369261477 1.369261477 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.83E-19 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 77826042 A C LHFPL2 CCDS4042.1 r.? - - intronic 57 0 0 48 8 16.7 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.23E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 77876743 A T - - - - - - 40 0 0 44 13 29.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.767644711 0.883822355 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 77888469 C A - - - - - - 46 0 0 38 13 34.2 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.82838288 0.91419144 2 1.024157895 1.024157895 1 NA NA 0 NA NA 1 4 NA 1 1 5.88E-21 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 10583735 G T LYVE1 CCDS7804.1 r.? - - intronic 50 0 0 50 5 10 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3 2 2 2 1 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0.859929825 0.859929825 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000549 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 77961148 C T TBC1D16 CCDS11766.1 r.? - - intronic 27 0 0 52 22 42.3 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 5.072622754 1.014524551 5 1.985932821 1.985932821 1 NA NA 1 NA NA 0 4 NA 1 1 5.59E-37 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 77976548 G A VAT1L CCDS32492.1 r.? - - intronic 35 0 0 53 7 13.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.626372055 3 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.922946108 0.922946108 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 9.85E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 77980386 T C - - - - - - 56 0 0 53 20 37.7 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.25899002 1.12949501 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.65E-32 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 78078910 G A - - - - - - 62 0 0 41 10 24.4 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 0.527684211 0.527684211 1 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 78091558 C A - - - - - - 44 0 0 55 15 27.3 42 3 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.362820359 1.362820359 1 0.693807018 0.693807018 1 NA NA 1 NA NA 1 4 NA 1 1 3.01E-22 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 78108484 C T - - - - - - 25 0 0 28 11 39.3 12 6 50 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.568862275 1.568862275 1 4.885964912 1.628654971 3 NA NA 0 NA NA 1 4 NA 1 1 9.70E-19 1 1.41E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 12253696 G T MICAL2 CCDS7809.1 r.? - - intronic 40 0 0 46 14 30.4 21 6 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3 2 2 2 1 1 1 NA NA NA NA NA NA 1.821572854 0.910786427 2 2.79477193 1.397385965 2 NA NA 1 NA NA 0 4 NA 1 1 1.26E-21 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 78138283 G A - - - - - - 47 0 0 47 14 29.8 41 5 12.2 153 0 0 301 38 12.6 352 24 6.8 4.03E-13 TRUE TRUE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.487620758 1.487620758 1 1.145936367 1.145936367 1 0.628994012 0.628994012 1 0.638718631 1.028546963 0.620991218 4 3 1 1 1.79E-21 2.58E-40 0.00000202 1.17E-19 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 78140154 T C ARSB CCDS4043.1 r.? - - intronic 64 0 0 59 22 37.3 43 11 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.235021956 1.117510978 2 2.757614035 1.378807018 2 NA NA 1 NA NA 1 4 NA 1 1 1.79E-35 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 78143366 T C - - - - - - 46 0 0 35 18 51.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.747920469 1.373960234 2 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 1.60E-32 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 78161861 A G USP33 CCDS678.1 r.3970u>c c.? p.? 3'UTR variant 55 0 0 35 8 22.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 1.35377193 1.35377193 1 NA NA 0 NA NA 1 4 NA 1 1 8.15E-12 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 78176869 C T - - - - - - 41 0 0 39 7 17.9 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.95696063 0.95696063 1 0.977070175 0.977070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 15165914 G T INSC CCDS41621.1 r.? - - intronic 53 0 0 29 8 27.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.377796407 1.377796407 1 1.749175439 1.749175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.53E-12 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 78228290 G A MAGI2 CCDS5594.1 r.? - - intronic 66 0 0 75 16 21.3 46 7 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.702299401 0.851149701 2 1.941333333 1.941333333 1 NA NA 1 NA NA 1 4 NA 1 1 9.88E-22 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 78249570 T G RNF213 CCDS11772.1 r.? - - intronic 24 0 0 40 31 77.5 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 9.293812375 1.032645819 9 3.896640914 0.974160228 4 NA NA 0 NA NA 0 4 NA 1 1 1.22E-63 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 22767955 C A GAS2 CCDS7858.1 r.? - - intronic 83 0 0 53 21 39.6 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.976838323 0.988419162 2 2.521157895 1.260578947 2 NA NA 1 NA NA 1 4 NA 1 1 1.30E-34 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 78250898 G C RNF213 CCDS11772.1 r.? - - intronic 24 0 0 50 5 10 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 1.199201597 1.199201597 1 1.323955214 1.323955214 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000549 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 78251588 T A - - - - - - 62 0 0 52 17 32.7 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.748190648 1.062169932 1.645867197 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 1.42E-26 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 78270743 C A - - - - - - 52 0 0 46 11 23.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.954091816 0.954091816 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.55E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 78361795 G A - - - - - - 55 0 0 44 11 25 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 0.721719298 0.721719298 1 NA NA 1 NA NA 1 4 NA 1 1 3.22E-16 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 23526241 C T - - - - - - 47 0 0 37 13 35.1 32 4 12.5 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.752197605 0.876098802 2 1.221491228 1.221491228 1 NA NA 1 0 0 1 4 NA 1 1 3.89E-21 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 78375472 G T WWOX CCDS42196.1 r.? - - intronic 24 0 0 26 20 76.9 16 5 31.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 6.145860279 2.048620093 3 3.868270187 1.289423396 3 NA NA 1 NA NA 0 4 NA 1 1 2.13E-41 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 23954647 T A - - - - - - 57 0 0 48 12 25 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.332245614 0.332245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-17 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 26204520 C A - - - - - - 63 0 0 42 14 33.3 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 2.511385965 1.255692982 2 NA NA 1 NA NA 1 4 NA 1 1 2.83E-22 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 78473129 T A - - - - - - 48 0 0 95 6 6.3 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 0.692497006 0.692497006 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000928 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 78479678 G A - - - - - - 46 0 0 32 12 37.5 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.872005988 0.936002994 2 0.526003578 0.526003578 1 NA NA 1 NA NA 0 4 NA 1 1 5.03E-20 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 78520263 A G - - - - - - 38 0 0 89 38 42.7 46 11 23.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 4.693590818 0.938718164 5 3.369355312 1.013098888 3.325791148 NA NA 1 NA NA 0 4 NA 1 1 5.77E-63 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 78526386 T C - - - - - - 47 0 0 49 17 34.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.079229541 1.03961477 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 4.26E-27 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 78609579 G A WWOX CCDS42196.1 r.? - - intronic 51 0 0 45 9 20 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.598403194 1.598403194 1 1.810152074 1.810152074 1 NA NA 1 NA NA 0 4 NA 1 1 1.47E-12 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 78663333 G A - - - - - - 56 0 0 35 7 20 50 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.998403194 0.998403194 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.65E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 78721795 G C AC128707.1 ENST00000511128 r.? - - intronic 48 0 0 45 4 8.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.444289421 0.444289421 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 32044942 C A - - - - - - 35 1 2.9 45 14 31.1 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.552516966 0.776258483 2 0.977192982 0.977192982 1 NA NA 1 NA NA 1 4 NA 0.16091139 1 8.81E-22 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 78750255 A T - - - - - - 59 0 0 27 12 44.4 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.38822692 1.304475247 1 1 0 0 0.61177308 0.695524753 2 2 0 0 0.38822692 0.304475247 1.500827843 1.500827843 1 1.348759647 1.348759647 1 NA NA 0 NA NA 1 4 NA 1 1 3.96E-21 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 78759844 C A - - - - - - 50 0 0 30 4 13.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.530938124 0.530938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 78803547 C A AGPHD1 CCDS42063.1 r.? - - intronic 66 0 0 41 7 17.1 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.853634731 0.853634731 1 0.30196649 0.30196649 1 NA NA 0 NA NA 0 4 NA 1 1 1.51E-09 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 78818286 C A KCNMA1 CCDS7352.1 r.? - - intronic 54 0 0 84 21 25 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 2.748003992 0.916001331 3 2.114658146 2.114658146 1 NA NA 1 NA NA 0 4 NA 1 1 1.15E-29 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 78839793 A C - - - - - - 49 0 0 60 21 35 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.097205589 1.048602794 2 1.637333333 1.637333333 1 NA NA 1 NA NA 1 4 NA 1 1 3.16E-33 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 78870123 G C - - - - - - 62 0 0 45 13 28.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.731692615 0.865846307 2 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 7.68E-20 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 78915653 C A KCNMA1 CCDS7352.1 r.? - - intronic 31 0 0 71 5 7 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 0.769441118 0.769441118 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000309 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 78997040 G A WWOX CCDS42196.1 r.? - - intronic 55 0 0 56 10 17.9 42 2 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.430570858 1.430570858 1 0.59511849 0.59511849 1 NA NA 1 NA NA 0 4 NA 1 1 2.82E-13 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 78999238 C G CMYA5 CCDS47238.1 r.? - - intronic 40 0 0 41 15 36.6 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.193077844 1.096538922 2 1.572701754 1.572701754 1 NA NA 1 NA NA 1 4 NA 1 1 1.71E-24 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 79083659 G A WWOX CCDS42196.1 r.? - - intronic 21 0 0 41 7 17.1 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.366634731 1.366634731 1 0.359550755 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.51E-09 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 79104349 C T - - - - - - 32 0 0 31 21 67.7 38 11 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 3.37959481 1.689797405 2 2.714554181 1.357277091 2 NA NA 1 NA NA 0 4 NA 1 1 2.02E-41 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37346531 C A - - - - - - 40 0 0 37 5 13.5 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.673922156 0.673922156 1 0.527684211 0.527684211 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000119 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 41729157 A G - - - - - - 45 0 0 50 13 26 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.297924152 1.297924152 1 0.840385965 0.840385965 1 NA NA 1 NA NA 1 4 NA 1 1 3.65E-19 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 79191862 C A - - - - - - 68 0 0 30 5 16.7 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.664642839 1.304475247 1 1 0 0 0.335357161 0.695524753 1 2 1 0 0.664642839 0.304475247 0.610662021 0.610662021 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 79241031 A G - - - - - - 47 1 2.1 58 35 60.3 44 11 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.819185629 1.204796407 4 3.192982456 1.064327485 3 NA NA 1 NA NA 1 4 NA 0.209895027 1 2.29E-65 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 79259289 C T - - - - - - 57 0 0 34 17 50 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.64E-30 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 104677393 A G MLL5 CCDS34723.1 r.? - - intronic 47 0 0 50 14 28 44 7 15.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.677764471 0.838882236 2 1.712736842 1.712736842 1 NA NA 1 NA NA 1 4 NA 1 1 4.84E-21 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 79294532 A T - - - - - - 59 0 0 50 10 20 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 8.36E-14 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 79305932 G C KCNMA1 CCDS7352.1 r.? - - intronic 29 0 0 84 10 11.9 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 6 4 3 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 1.3080499 1.3080499 1 0.71898377 0.71898377 1 NA NA 1 NA NA 0 4 NA 1 1 1.93E-11 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 79345979 T G - - - - - - 51 0 0 78 26 33.3 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 0.561964912 0.561964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.04E-40 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 79354274 C A - - - - - - 12 0 0 22 9 40.9 9 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 4.904734531 0.980946906 5 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.16E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 46746536 G T F2 CCDS31476.1 r.? - - intronic 37 0 0 49 18 36.7 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.83206986 0.91603493 2 1.631912281 1.631912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.80E-29 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 79382239 A C REG3A CCDS1965.1 r.? - - downstream 45 0 0 51 21 41.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 3.292710579 1.097570193 3 1.745052632 1.745052632 1 NA NA 1 NA NA 0 4 NA 1 1 4.73E-35 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 79439256 T C - - - - - - 18 0 0 29 11 37.9 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 4.544974052 0.90899481 5 2.512505917 2.512505917 1 NA NA 1 NA NA 0 4 NA 1 1 1.56E-18 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 47692793 G A AGBL2 CCDS7944.1 r.? - - intronic 24 0 0 45 10 22.2 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.66E-14 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 79443136 C T - - - - - - 47 0 0 75 6 8 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 7.325791148 5 4 4 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 0.879361277 0.879361277 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000234 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 79449818 G C - - - - - - 47 0 0 67 8 11.9 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.9510499 0.9510499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.96E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 79450634 T A - - - - - - 40 0 0 93 17 18.3 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 5 4 4 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 2.011538922 1.005769461 2 3.016912288 1.005637429 3 NA NA 1 NA NA 0 4 NA 1 1 9.19E-22 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 79459339 G T NRXN3 CCDS9870.1 r.? - - intronic 42 0 0 24 13 54.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.163672655 1.081836327 2 1.446245614 1.446245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.90E-24 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 79467920 C T - - - - - - 61 0 0 40 12 30 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.49760479 1.49760479 1 1.180678251 1.180678251 1 NA NA 1 NA NA 0 4 NA 1 1 1.20E-18 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 79480739 T C - - - - - - 41 0 0 35 17 48.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.42611976 1.21305988 2 3.472614635 1.514032348 2.293619843 NA NA 0 NA NA 1 4 NA 1 1 3.18E-30 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 79489760 T C PKIA CCDS6222.1 r.? - - intronic 53 0 0 40 8 20 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.998403194 0.998403194 1 1.568617814 1.568617814 1 NA NA 1 NA NA 0 4 NA 1 1 2.61E-11 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 79515989 C T - - - - - - 40 0 0 78 8 10.3 42 3 7.1 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.823177645 0.823177645 1 0.906807018 0.906807018 1 NA NA 1 0 0 1 4 NA 1 1 6.71E-09 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 79524542 C T - - - - - - 59 0 0 72 16 22.2 61 13 21.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.774227545 0.887113772 2 2.720421053 0.906807018 3 NA NA 1 NA NA 1 4 NA 1 1 4.82E-22 1 6.41E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 47955039 G A - - - - - - 23 0 0 37 8 21.6 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.078275449 1.078275449 1 1.045596491 1.045596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.33E-11 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 79541088 A G - - - - - - 42 0 0 69 7 10.1 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.706193613 0.706193613 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 49055285 G A ENSG00000182053 ENST00000332682 r.? - - intronic 49 0 0 42 9 21.4 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.068291417 1.068291417 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.51E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 79593563 T C ROBO1 ENST00000464233 r.? - - intronic 51 0 0 58 18 31 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.657306119 1.006950088 1.645867197 0.977070175 0.977070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.42E-27 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 79605736 C T DLG5 CCDS7353.2 r.? - - intronic 23 0 0 64 10 15.6 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 7.325791148 5 4 4 3 1 0.674208852 NA 5 NA 3 NA 0.325791148 1.714754491 1.714754491 1 1.945485494 1.945485494 1 NA NA 1 NA NA 0 4 NA 1 1 1.16E-12 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 79640293 C A SYT1 CCDS9017.1 r.? - - intronic 46 0 0 35 7 20 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0.293157895 0.293157895 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 79641858 G C - - - - - - 42 0 0 31 10 32.3 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.612421158 1.612421158 1 1.643504125 1.643504125 1 NA NA 1 NA NA 0 4 NA 1 1 3.94E-16 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 79646108 G A - - - - - - 49 0 0 28 5 17.9 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.535570858 0.535570858 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000279 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 79663396 T A CTNNA2 CCDS42703.2 r.? - - intronic 48 0 0 66 17 25.8 48 9 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 2.06194012 1.03097006 2 2.025122807 1.012561404 2 NA NA 1 NA NA 0 4 NA 1 1 1.52E-24 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 79704497 A T SYT1 CCDS9017.1 r.? - - intronic 43 0 0 27 5 18.5 18 1 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.923522954 0.923522954 1 0.54722807 0.54722807 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000023 1 0.086275114 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 79752195 C A SYT1 CCDS9017.1 r.? - - intronic 60 0 0 55 9 16.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.818690619 0.818690619 1 0.674263158 0.674263158 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-11 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 79757039 C A ZFYVE16 CCDS4050.1 r.? - - intronic 48 1 2.1 42 10 23.8 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.4260998 1.4260998 1 2.779157895 1.389578947 2 NA NA 1 NA NA 1 4 NA 0.213845552 1 1.24E-14 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 79822123 C T - - - - - - 41 0 0 36 9 25 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.748003992 0.748003992 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.63E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 79840146 A C SYT1 CCDS9017.1 r.? - - intronic 48 0 0 32 14 43.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.186502994 1.093251497 2 2.20845614 1.10422807 2 NA NA 1 NA NA 1 4 NA 1 1 2.65E-24 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 79842112 G C - - - - - - 46 0 0 26 15 57.7 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.303393214 1.151696607 2 0.543859649 0.543859649 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-28 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 79857064 T A NRXN3 CCDS45145.1 r.? - - intronic 47 0 0 42 7 16.7 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.666666667 0.666666667 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 55223929 A T - - - - - - 59 0 0 37 10 27 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.347844311 1.347844311 1 0.947877193 0.947877193 1 NA NA 1 NA NA 1 4 NA 1 1 3.01E-15 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 79927809 T C HMGN3 CCDS4988.1 r.? - - intronic 51 0 0 30 11 36.7 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46506986 1.46506986 1 1.412280702 1.412280702 1 NA NA 1 NA NA 1 4 NA 1 1 2.44E-18 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 79979704 C T CTNNA2 CCDS42703.2 r.? - - intronic 48 0 0 54 12 22.2 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.90E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 80022421 G A CTNNA2 CCDS42703.2 r.? - - intronic 50 0 0 46 13 28.3 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 1.454210526 1.454210526 1 NA NA 1 NA NA 1 4 NA 1 1 1.07E-19 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 80053102 G T MSH3 CCDS34195.1 r.? - - intronic 48 0 0 53 11 20.8 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.246339321 1.246339321 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.07E-15 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 80092421 T A - - - - - - 32 0 0 40 16 40 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.996806387 0.998403194 2 2.013109933 2.013109933 1 NA NA 1 NA NA 1 4 NA 1 1 8.56E-27 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 80140428 A G - - - - - - 48 0 0 52 19 36.5 22 7 31.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.917085828 0.972361943 3 3.942659998 1.314219999 3 NA NA 1 NA NA 0 4 NA 1 1 1.24E-30 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 80156662 C T CCDC57 ENST00000445854 r.? - - intronic 22 0 0 55 9 16.4 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 1.966690619 0.983345309 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.01E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 80167047 G C CD36 CCDS34673.1 r.? - - intronic 50 0 0 72 17 23.6 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.886115768 0.943057884 2 2.081824561 1.040912281 2 NA NA 1 NA NA 1 4 NA 1 1 7.97E-24 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 80193587 G A CD36 CCDS34673.1 r.? - - intronic 33 0 0 76 40 52.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 4.203800399 1.0509501 4 4.508491228 1.127122807 4 NA NA 1 NA NA 1 4 NA 1 1 4.74E-71 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 80238234 G A - - - - - - 22 0 0 19 11 57.9 11 2 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 1.732377246 1.732377246 1 1.469905723 1.469905723 1 NA NA 1 NA NA 0 4 NA 1 1 3.56E-21 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 65956848 T A PACS1 CCDS8129.1 r.? - - intronic 58 0 0 36 6 16.7 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.833666667 0.833666667 1 1.671 1.671 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-08 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 80295756 A C - - - - - - 36 0 0 45 4 8.9 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.444289421 0.444289421 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 80309867 A C - - - - - - 19 0 0 52 4 7.7 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 0.92338523 0.92338523 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000139698 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 80330036 C T - - - - - - 54 0 0 30 5 16.7 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.833666667 0.833666667 1 0.321144484 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000401 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 105102142 A G PUS7 CCDS34725.1 r.? - - intronic 57 0 0 51 20 39.2 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.348870259 1.17443513 2 3.037684211 1.518842105 2 NA NA 1 NA NA 1 4 NA 1 1 6.38E-33 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 80374886 G A - - - - - - 47 0 0 43 6 14 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.698882236 0.698882236 1 0.887870045 0.887870045 1 NA NA 1 NA NA 0 4 NA 1 1 8.13E-08 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 68586740 G T CPT1A CCDS8185.1 r.? - - intronic 18 0 0 40 5 12.5 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.624001996 0.624001996 1 1.12377193 1.12377193 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000178 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 80467709 A G - - - - - - 48 0 0 48 6 12.5 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.668268596 0.668268596 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 80508621 C T - - - - - - 45 0 0 30 4 13.3 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.663938124 0.663938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 80543539 C G - - - - - - 66 0 0 51 5 9.8 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.52392258 0.52392258 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 80653364 C A RAB40B CCDS11816.1 r.? - - intronic 20 0 0 34 7 20.6 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10 8.273015789 9 7 1 1 1 0.726984211 NA 7 NA 2 NA 0.273015789 2.470355289 0.823451763 3 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 80676731 G C - - - - - - 49 0 0 40 6 15 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.748802395 0.748802395 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 69570080 C A - - - - - - 13 0 0 31 12 38.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.93191018 0.96595509 2 3.136789474 1.568394737 2 NA NA 1 NA NA 1 4 NA 1 1 3.16E-20 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 80799424 T G CDYL2 CCDS32493.1 r.? - - intronic 50 0 0 48 8 16.7 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.334666667 1.334666667 1 0.929872641 0.929872641 1 NA NA 1 NA NA 0 4 NA 1 1 1.23E-10 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 80801766 T C - - - - - - 47 0 0 33 16 48.5 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 1.451127745 1.451127745 1 1.09839109 1.09839109 1 NA NA 1 NA NA 0 4 NA 1 1 1.64E-28 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 155072277 G C - - - - - - 22 0 0 32 17 53.1 14 6 42.9 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.119760479 1.05988024 2 3.763157895 1.881578947 2 NA NA 1 NA NA 1 4 NA 1 1 4.02E-31 1 4.53E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 80852491 G A ANTXR2 CCDS47085.1 r.? - - intronic 61 0 0 44 10 22.7 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.133187625 1.133187625 1 1.271948055 1.271948055 1 NA NA 1 NA NA 0 4 NA 1 1 2.08E-14 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 80872548 C T BCKDHB CCDS4994.1 r.? - - intronic 33 0 0 32 11 34.4 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.373253493 1.373253493 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 5.72E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 80878525 G A AC010849.1 ENST00000504475 r.? - - intronic 40 0 0 34 13 38.2 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.5249501 1.5249501 1 0.674263158 0.674263158 1 NA NA 0 NA NA 1 4 NA 1 1 1.03E-21 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 80936726 G C - - - - - - 40 0 0 36 7 19.4 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.968451098 0.968451098 1 0.831197489 0.831197489 1 NA NA 1 NA NA 0 4 NA 1 1 5.74E-10 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 77245814 G A - - - - - - 30 0 0 41 5 12.2 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 2.673496181 2 2 2 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.731025948 0.731025948 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81021671 C G - - - - - - 59 0 0 42 7 16.7 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.892806845 0.892806845 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 81102794 C A MYF6 CCDS9019.1 r.831c>a c.? p.? 3'UTR variant 34 0 0 36 7 19.4 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 0.488596491 0.488596491 1 NA NA 1 NA NA 1 4 NA 1 1 5.74E-10 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 81121081 T A C14orf145 CCDS32130.1 r.? - - intronic 52 0 0 42 21 50 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.570017544 0.856672515 3 NA NA 0 NA NA 1 4 NA 1 1 2.32E-37 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 81121085 C T - - - - - - 38 0 0 39 13 33.3 28 12 42.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.662341317 0.831170659 2 4.029563127 2.014781564 2 NA NA 1 NA NA 0 4 NA 1 1 8.79E-21 1 6.90E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 81131886 G A - - - - - - 45 0 0 41 10 24.4 24 0 0 144 0 0 240 32 13.3 268 23 8.6 9.78E-15 FALSE TRUE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.218051896 1.218051896 1 0 NA 0 0.663938124 0.663938124 1 0.812306637 0.812306637 1 NA 3 1 1 9.51E-15 5.43E-35 1 3.79E-21 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 11 81148756 A G - - - - - - 48 0 0 48 5 10.4 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.519169661 0.519169661 1 0.916206323 0.916206323 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000447 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 81177416 G A PKD1L2 ENST00000299598 r.? - - intronic 25 0 0 50 18 36 37 11 29.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.877125749 0.959041916 3 3.682295658 1.227431886 3 NA NA 1 NA NA 0 4 NA 1 1 5.92E-29 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 81234798 G T LIN7A CCDS9021.1 r.? - - intronic 57 0 0 48 7 14.6 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.728834331 0.728834331 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 81286976 C T - - - - - - 41 0 0 46 5 10.9 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.762129741 0.762129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 81315321 A T C14orf145 CCDS32130.1 r.? - - intronic 32 0 0 24 11 45.8 28 11 39.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.828343313 0.914171657 2 3.840368421 1.280122807 3 NA NA 0 NA NA 1 4 NA 1 1 1.15E-19 1 9.70E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81325501 T C C4orf22 CCDS3587.1 r.? - - intronic 52 0 0 42 7 16.7 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.833666667 0.833666667 1 1.044814474 1.044814474 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-09 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81327235 C T C4orf22 CCDS3587.1 r.? - - intronic 39 0 0 35 8 22.9 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.143171657 1.143171657 1 0.935790355 0.935790355 1 NA NA 1 NA NA 0 4 NA 1 1 8.15E-12 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 48513315 T C KIAA0146 CCDS43737.1 r.? - - intronic 46 0 0 37 19 51.4 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.537896208 1.537896208 1 0.497824815 0.497824815 1 NA NA 0 NA NA 1 4 NA 1 1 3.09E-34 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 81348282 T C - - - - - - 50 0 0 29 6 20.7 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.033347305 1.033347305 1 0.517912281 0.517912281 1 NA NA 1 NA NA 1 4 NA 1 1 6.72E-09 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 61296535 A G - - - - - - 24 0 0 38 10 26.3 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.3129002 1.3129002 1 0.27239471 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.06E-15 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 81372840 A T GAN CCDS10935.1 r.? - - intronic 62 0 0 46 18 39.1 36 9 25 0 0 NA 0 0 NA 1 1 100 0.01 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.124878244 1.041626081 3 3.09957547 1.033191823 3 NA NA 1 12.39830188 12.39830188 1 4 NA 1 1 9.41E-30 1 1.63E-13 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81385812 T A C4orf22 CCDS3587.1 r.? - - intronic 46 0 0 39 12 30.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.537540918 1.537540918 1 1.344630801 1.344630801 1 NA NA 1 NA NA 0 4 NA 1 1 8.43E-19 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 81398770 C T - - - - - - 35 0 0 39 7 17.9 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.893570858 0.893570858 1 1.751405642 1.751405642 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 81453403 C A ATG10 CCDS4057.1 r.? - - intronic 55 0 0 44 16 36.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.181093812 1.090546906 2 1.734280702 1.734280702 1 NA NA 1 NA NA 1 4 NA 1 1 5.57E-26 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81502991 T A C4orf22 CCDS3587.1 r.? - - intronic 34 0 0 35 7 20 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.998403194 0.998403194 1 1.517252323 1.517252323 1 NA NA 1 NA NA 0 4 NA 1 1 4.65E-10 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 84146692 C A DLG2 CCDS41696.1 r.? - - intronic 52 0 0 41 18 43.9 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.19149501 1.095747505 2 2.096884573 1.048442287 2 NA NA 1 NA NA 0 4 NA 1 1 6.91E-31 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 81528619 A C ATG10 CCDS4057.1 r.? - - intronic 44 0 0 51 11 21.6 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.294275449 1.294275449 1 0.894070175 0.894070175 1 NA NA 1 NA NA 1 4 NA 1 1 1.94E-15 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 81539881 C A - - - - - - 46 0 0 37 7 18.9 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.754491018 0.754491018 1 0.829438596 0.829438596 1 NA NA 0 NA NA 1 4 NA 1 1 7.05E-10 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81544774 G C C4orf22 CCDS3587.1 r.? - - intronic 35 0 0 39 8 20.5 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.023363273 1.023363273 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.09E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 81546490 C T - - - - - - 26 0 0 35 13 37.1 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.965037924 0.988345975 3 3.310346602 1.103448867 3 NA NA 1 NA NA 0 4 NA 1 1 1.63E-21 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 81587851 A G CACNA2D1 CCDS5598.1 r.? - - intronic 67 0 0 76 21 27.6 53 9 17 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.205796407 1.102898204 2 2.17122807 1.085614035 2 NA NA 1 NA NA 1 4 NA 1 1 1.07E-30 1 7.10E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 81610166 G A - - - - - - 50 0 0 44 10 22.7 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.133187625 1.133187625 1 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 2.08E-14 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 81612760 C G AP002802.1 ENST00000500502 r.? - - intronic 48 0 0 28 9 32.1 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.602437126 1.602437126 1 2.285793093 1.142896547 2 NA NA 1 NA NA 0 4 NA 1 1 1.24E-14 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 81621633 C T - - - - - - 49 0 0 41 9 22 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.098243513 1.098243513 1 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-13 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81627440 T C - - - - - - 67 0 0 55 14 25.5 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 2.19E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81681333 A C - - - - - - 59 0 0 52 6 11.5 27 4 14.8 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.689081836 0.689081836 1 1.594245614 1.594245614 1 0 0 1 NA NA 1 4 NA 1 1 0.000000261 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 88309514 T C GRM5 CCDS44694.1 r.? - - intronic 55 0 0 45 7 15.6 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.778754491 0.778754491 1 1.218459955 1.218459955 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000003 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 81729144 C T - - - - - - 40 0 0 43 12 27.9 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.392772455 1.392772455 1 1.859964912 1.859964912 1 NA NA 0 NA NA 1 4 NA 1 1 3.24E-18 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81840432 A G - - - - - - 56 0 0 51 10 19.6 47 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0.463192982 0.463192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-13 1 0.02328732 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81846292 C A - - - - - - 35 0 0 38 14 36.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.967382748 0.983691374 2 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 5.28E-23 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 88801591 G T GRM5 CCDS44694.1 r.? - - upstream 49 0 0 40 5 12.5 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.624001996 0.624001996 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 81866171 C T - - - - - - 49 0 0 39 14 35.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81912169 A T - - - - - - 59 0 0 44 18 40.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.450734531 1.225367265 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 3.47E-30 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 81912487 A G - - - - - - 46 0 0 27 14 51.9 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.071856287 1.035928144 2 0.649122807 0.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-25 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 81950820 C T - - - - - - 47 0 0 54 11 20.4 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.426371257 1.426371257 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.84E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81972797 A T - - - - - - 62 0 0 52 4 7.7 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.46138523 0.46138523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000139698 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81980518 C T - - - - - - 55 0 0 42 11 26.2 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.400690978 1.400690978 1 1.883508772 1.883508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.81E-16 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 93493635 C A C11orf54 CCDS8294.1 r.? - - intronic 30 0 0 42 9 21.4 22 0 0 1 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.068291417 1.068291417 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.51E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 82043805 C T - - - - - - 44 0 0 42 18 42.9 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.14157485 1.070787425 2 1.954385965 1.954385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-30 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 82058989 T A - - - - - - 52 0 0 33 7 21.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.846307385 0.846307385 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.98E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82062128 T C - - - - - - 50 0 0 47 19 40.4 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.159844104 1.079922052 2 2.013 1.0065 2 NA NA 0 NA NA 1 4 NA 1 1 1.16E-31 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82101141 G T - - - - - - 64 0 0 49 5 10.2 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.545307175 0.545307175 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82162846 G T - - - - - - 49 0 0 48 10 20.8 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.111998944 1.111998944 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 5.37E-14 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 82168051 G A LPHN2 CCDS689.1 r.? - - intronic 45 0 0 38 11 28.9 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.442692615 1.442692615 1 0.447333333 0.447333333 1 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 82187745 C G - - - - - - 46 0 0 56 13 23.2 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.390147705 1.390147705 1 2.305192982 1.152596491 2 NA NA 1 NA NA 1 4 NA 1 1 1.89E-18 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 82189333 T G - - - - - - 40 0 0 53 6 11.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.677097804 0.677097804 1 1.303403509 1.303403509 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000293 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 82190963 T C FABP5 CCDS6228.1 r.? - - upstream 43 0 0 46 23 50 43 11 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.496007984 1.248003992 2 2.404587787 1.202293893 2 NA NA 1 NA NA 0 4 NA 1 1 8.79E-41 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 82246125 G A - - - - - - 42 0 0 44 16 36.4 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.909093812 0.969697937 3 2.020923206 1.010461603 2 NA NA 1 NA NA 0 4 NA 1 1 5.57E-26 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 82262246 C A - - - - - - 55 0 0 50 4 8 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.479361277 0.479361277 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000119787 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 93865345 G A PANX1 CCDS8296.1 r.? - - intronic 51 0 0 46 14 30.4 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.517572854 1.517572854 1 0.576170986 0.576170986 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-21 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 82308916 T C - - - - - - 50 0 0 43 11 25.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.277956088 1.277956088 1 0.349480762 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.42E-16 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 82310045 G A - - - - - - 41 0 0 43 14 32.6 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.627397206 0.813698603 2 0.672315401 0.672315401 1 NA NA 1 NA NA 0 4 NA 1 1 4.18E-22 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 82316275 A C - - - - - - 57 0 0 60 12 20 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 2.208245614 1.104122807 2 NA NA 1 NA NA 1 4 NA 1 1 2.74E-16 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 62852030 G A - - - - - - 43 0 0 36 17 47.2 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.356231537 1.178115768 2 0.882934578 0.882934578 1 NA NA 1 NA NA 0 4 NA 1 1 6.00E-30 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82413762 C T - - - - - - 52 0 0 35 13 37.1 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.983421194 0.991710597 2 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 1.63E-21 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 82490353 G T - - - - - - 26 0 0 33 15 45.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.271367265 1.135683633 2 2.273086892 1.136543446 2 NA NA 1 NA NA 0 4 NA 1 1 2.91E-26 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 82493900 G T PCLO CCDS47630.1 r.? - - intronic 75 0 0 59 17 28.8 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.725700599 0.862850299 2 0.872526316 0.872526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.74E-25 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 82508678 C T PCLO CCDS47630.1 r.13918g>a c.13629G>A p.A4543A silent 44 0 0 43 10 23.3 23 2 8.7 175 0 0 366 55 15 320 44 13.8 1.90E-35 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.396139721 1.396139721 1 0.937157895 0.937157895 1 0.898802395 0.898802395 1 1.486526316 0.743263158 2 4 3 1 1 1.61E-14 6.45E-62 0.00589844 4.20E-48 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 8 75640809 G A - - - - - - 44 0 0 42 12 28.6 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.427716567 1.427716567 1 1.991299261 0.99564963 2 NA NA 1 NA NA 0 4 NA 1 1 2.35E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 82564196 C T - - - - - - 49 0 0 41 5 12.2 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.609025948 0.609025948 1 1.517252323 1.517252323 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000202 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 82593596 C G - - - - - - 45 0 0 38 11 28.9 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.442692615 1.442692615 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.19E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 82612473 A C - - - - - - 50 0 0 41 12 29.3 44 2 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.462660679 1.462660679 1 0.408840446 0.408840446 1 NA NA 1 NA NA 0 4 NA 1 1 1.69E-18 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 82651460 C T - - - - - - 52 0 0 28 13 46.4 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.852295409 0.926147705 2 0.921052632 0.921052632 1 NA NA 1 NA NA 1 4 NA 1 1 4.26E-23 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 82668290 T C - - - - - - 46 0 0 35 12 34.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.369261477 1.369261477 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.83E-19 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82684326 G A - - - - - - 50 0 0 42 12 28.6 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.528998549 1.528998549 1 2.02477193 2.02477193 1 NA NA 0 NA NA 1 4 NA 1 1 2.35E-18 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 82695101 G A - - - - - - 51 0 0 58 7 12.1 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.604033932 0.604033932 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.88E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 82710292 T A - - - - - - 50 0 0 49 4 8.2 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.491345309 0.491345309 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82746128 A T - - - - - - 51 0 0 34 15 44.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.357651608 1.178825804 2 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 5.18E-26 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 82756830 G T C12orf26 CCDS9024.1 r.? - - intronic 28 0 0 47 23 48.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.441095808 1.220547904 2 2.296403509 1.148201754 2 NA NA 1 NA NA 1 4 NA 1 1 1.71E-40 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82766781 T C - - - - - - 58 0 0 57 23 40.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.159844104 1.079922052 2 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 5.38E-38 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 82782195 G A VCAN CCDS4060.1 r.? - - intronic 55 0 0 46 7 15.2 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 3.53E-09 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 82784610 G T - - - - - - 48 0 0 50 6 12 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.719041916 0.719041916 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 82823217 G T - - - - - - 49 0 0 50 6 12 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.959041916 0.959041916 1 1.066253962 1.066253962 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000206 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 96026563 G T MAML2 CCDS44714.1 r.? - - intronic 63 0 0 46 8 17.4 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.868610778 0.868610778 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 8.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 82872051 C G PCF11 CCDS44689.1 r.? - - intronic 51 0 0 41 18 43.9 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.19149501 1.095747505 2 2.644719282 1.322359641 2 NA NA 1 NA NA 0 4 NA 1 1 6.91E-31 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97058464 C A - - - - - - 57 0 0 36 10 27.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.387780439 1.387780439 1 1.435704753 1.435704753 1 NA NA 1 NA NA 0 4 NA 1 1 2.21E-15 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 82894183 C T - - - - - - 57 0 0 46 9 19.6 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.82E-12 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 82919965 C T - - - - - - 50 0 0 37 9 24.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.299114151 1.299114151 1 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.14E-13 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 99293337 C T - - - - - - 38 0 0 31 14 45.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.256391218 1.128195609 2 1.643504125 1.643504125 1 NA NA 1 NA NA 0 4 NA 1 1 1.49E-24 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 82923690 C G - - - - - - 64 0 0 56 5 8.9 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000965 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 111400969 A G C11orf88 CCDS41712.1 r.? - - intronic 51 0 0 59 5 8.5 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.594321357 0.594321357 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 112818966 C A - - - - - - 38 0 0 64 8 12.5 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.874001996 0.874001996 1 0.760321725 0.760321725 1 NA NA 1 NA NA 0 4 NA 1 1 1.35E-09 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 83061275 G A - - - - - - 42 0 0 35 7 20 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.998403194 0.998403194 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.65E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 83072730 G A - - - - - - 50 0 0 50 14 28 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.397764471 1.397764471 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.84E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 116211974 C A - - - - - - 43 0 0 73 13 17.8 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.244578842 1.244578842 1 0.981060291 0.981060291 1 NA NA 1 NA NA 1 4 NA 1 1 7.97E-17 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 83091768 C T - - - - - - 43 0 0 26 12 46.2 15 4 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.306311377 1.153155689 2 2.425786648 2.425786648 1 NA NA 1 NA NA 0 4 NA 1 1 2.21E-21 1 0.000000816 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 117635282 G A DSCAML1 CCDS8384.1 r.? - - intronic 32 0 0 57 12 21.1 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.475315369 1.475315369 1 0.490530145 0.490530145 1 NA NA 1 NA NA 1 4 NA 1 1 1.40E-16 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 83237978 G A - - - - - - 59 0 0 57 16 28.1 25 9 36 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.683756487 0.841878244 2 3.877894737 1.938947368 2 NA NA 1 NA NA 1 4 NA 1 1 7.28E-24 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 83282115 T C - - - - - - 66 0 0 37 18 48.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.598228303 1.299114151 2 2.413245614 0.804415205 3 NA NA 0 NA NA 1 4 NA 1 1 6.16E-32 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 83303873 G A - - - - - - 49 0 0 42 6 14.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.570858283 0.570858283 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 83310871 C T - - - - - - 56 0 0 38 9 23.7 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.183107784 1.183107784 1 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 83311488 T C - - - - - - 49 0 0 50 13 26 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.557924152 1.557924152 1 3.037684211 1.518842105 2 NA NA 1 NA NA 1 4 NA 1 1 3.65E-19 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 83370566 C A - - - - - - 51 0 0 33 7 21.2 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.846307385 0.846307385 1 0.807894737 0.807894737 1 NA NA 0 NA NA 1 4 NA 1 1 2.98E-10 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 83380863 G A - - - - - - 46 0 0 31 10 32.3 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.289421158 1.289421158 1 0.811070175 0.811070175 1 NA NA 0 NA NA 1 4 NA 1 1 3.94E-16 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 83383841 C T - - - - - - 48 0 0 39 27 69.2 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.76247505 1.381237525 2 2.456140351 1.228070175 2 NA NA 1 NA NA 1 4 NA 1 1 2.75E-53 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 83432591 G A - - - - - - 60 0 0 61 24 39.3 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.961862275 0.980931138 2 2.413245614 0.804415205 3 NA NA 0 NA NA 1 4 NA 1 1 2.97E-39 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 83455958 G T TMTC2 CCDS9025.1 r.? - - intronic 61 0 0 36 8 22.2 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 0.293157895 0.293157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-11 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 83463655 C T - - - - - - 48 0 0 48 9 18.8 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.126499002 1.126499002 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.75E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 83479966 A C - - - - - - 53 0 0 48 9 18.8 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.938499002 0.938499002 1 0.507217736 0.507217736 1 NA NA 1 NA NA 0 4 NA 1 1 2.75E-12 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 83490722 A G TMTC2 CCDS9025.1 r.? - - intronic 51 0 0 51 21 41.2 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.056710579 1.028355289 2 1.153087719 1.153087719 1 NA NA 1 NA NA 1 4 NA 1 1 4.73E-35 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 83499435 T C DLG2 CCDS41696.1 r.? - - intronic 48 0 0 44 8 18.2 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.908546906 0.908546906 1 0.311699058 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.90E-11 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 83527579 T A - - - - - - 51 0 0 41 6 14.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.728834331 0.728834331 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 83534604 T A - - - - - - 61 1 1.6 35 8 22.9 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.914171657 0.914171657 1 0.254385965 0.254385965 1 NA NA 1 NA NA 1 4 NA 0.263440347 1 8.15E-12 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 83537520 A T - - - - - - 67 0 0 48 5 10.4 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.519169661 0.519169661 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 83559435 C T - - - - - - 60 0 0 52 15 28.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.539690846 0.935489114 1.645867197 2.66045614 0.886818713 3 NA NA 0 NA NA 1 4 NA 1 1 1.15E-22 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 83580444 A G - - - - - - 47 0 0 31 17 54.8 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 3.83162475 1.27720825 3 4.284982456 1.428327485 3 NA NA 1 NA NA 1 4 NA 1 1 1.89E-31 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 83581841 C T SCD5 CCDS3595.1 r.1194g>a c.? p.? 3'UTR variant 52 0 0 42 15 35.7 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.782149701 0.89107485 2 0.953961042 0.953961042 1 NA NA 1 NA NA 0 4 NA 1 1 2.65E-24 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 83584836 C T SEMA3A CCDS5599.1 r.? - - downstream 64 0 0 50 18 36 41 13 31.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.157125749 1.078562874 2 3.414701754 1.707350877 2 NA NA 1 NA NA 1 4 NA 1 1 5.92E-29 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 119091043 G T CBL CCDS8418.1 r.? - - intronic 30 0 0 75 20 26.7 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.599868263 0.799934132 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 5.89E-29 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 83657862 C T CDH13 ENST00000268613 r.? - - intronic 43 0 0 39 15 38.5 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.076926148 1.025642049 3 1.326618301 1.326618301 1 NA NA 1 NA NA 0 4 NA 1 1 6.85E-25 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 83658975 A C HDX CCDS35342.1 r.? - - intronic 46 0 0 21 3 14.3 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.427858283 0.427858283 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000155401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 83687936 G A CDH13 ENST00000268613 r.? - - intronic 54 0 0 42 11 26.2 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.093908184 1.046954092 2 1.239830188 1.239830188 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-16 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 83733250 G T - - - - - - 33 0 0 32 6 18.8 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.938499002 0.938499002 1 1.517252323 1.517252323 1 NA NA 1 NA NA 0 4 NA 1 1 1.27E-08 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 83734023 G A HDX CCDS35342.1 r.? - - intronic 41 0 0 33 11 33.3 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.996341317 0.996341317 1 1.009550634 1.009550634 1 NA NA 0 NA NA 1 4 NA 1 1 8.54E-18 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 83749261 A G SEMA3A CCDS5599.1 r.? - - intronic 55 0 0 37 6 16.2 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.970706587 0.970706587 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 83762495 C T - - - - - - 61 0 0 33 7 21.2 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.058307385 1.058307385 1 0.826577052 0.826577052 1 NA NA 1 NA NA 0 4 NA 1 1 2.98E-10 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 83766298 G A DLG2 CCDS41696.1 r.? - - intronic 47 0 0 29 7 24.1 18 2 11.1 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.203075848 1.203075848 1 1.048442287 1.048442287 1 0 0 1 NA NA 0 4 NA 1 1 1.11E-10 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 83783067 A C NRG3 CCDS31233.1 r.? - - intronic 50 0 0 37 18 48.6 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.94011976 0.97005988 2 3.035087719 1.51754386 2 NA NA 1 NA NA 1 4 NA 1 1 6.16E-32 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 83793755 C A - - - - - - 53 0 0 73 11 15.1 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.055794411 1.055794411 1 0.376701754 0.376701754 1 NA NA 1 NA NA 1 4 NA 1 1 1.31E-13 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 83798373 T A - - - - - - 37 0 0 40 11 27.5 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.647804391 1.647804391 1 0.657087719 0.657087719 1 NA NA 1 NA NA 1 4 NA 1 1 9.88E-17 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 83835630 A C - - - - - - 45 0 0 43 7 16.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.650698603 0.650698603 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.15E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 83864223 T C - - - - - - 43 0 0 14 4 28.6 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.855716567 0.855716567 1 0.896480963 0.896480963 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000601 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 128161277 C T - - - - - - 47 0 0 52 36 69.2 36 15 41.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.14647505 1.036618762 4 4.491894737 1.122973684 4 NA NA 1 NA NA 1 4 NA 1 1 1.39E-70 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 83876982 G T - - - - - - 46 0 0 40 4 10 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 83883606 A T ENSG00000229561 ENST00000412414 r.? - - intronic 36 0 0 31 13 41.9 33 12 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.348654691 1.11621823 3 4.512981884 1.504327295 3 NA NA 1 NA NA 0 4 NA 1 1 2.32E-22 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 130409297 G T - - - - - - 52 0 0 46 13 28.3 51 4 7.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 0.840210526 0.840210526 1 NA NA 1 NA NA 1 4 NA 1 1 1.07E-19 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 83934579 T C - - - - - - 50 0 0 64 10 15.6 54 3 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.090754491 1.090754491 1 0.65922807 0.65922807 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-12 1 0.00256299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 83936999 T A LIN54 ENST00000505397 r.? - - upstream 12 0 0 37 20 54.1 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.700680639 1.350340319 2 1.45365492 1.45365492 1 NA NA 1 NA NA 0 4 NA 1 1 1.40E-36 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 83953785 G T COPS4 CCDS3600.1 r.? - - upstream 22 0 0 35 12 34.3 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.712261477 0.856130739 2 1.008473101 1.008473101 1 NA NA 1 NA NA 0 4 NA 1 1 1.83E-19 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 83954095 G T BNC1 CCDS10324.1 r.? - - upstream 16 0 0 31 5 16.1 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.803714571 0.803714571 1 0.483146384 0.483146384 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000476 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 83974493 T A - - - - - - 37 0 0 53 5 9.4 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.657249501 0.657249501 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 83987370 G A OSGIN1 CCDS10938.1 r.? - - intronic 15 0 0 54 11 20.4 5 0 0 129 0 0 2 0 0 4 0 0 1 FALSE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.630371257 1.630371257 1 0 NA 0 0 0 1 0 NA 0 NA NA 1 1 3.84E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84051162 G T - - - - - - 49 0 0 49 23 46.9 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.507343774 1.253671887 2 1.836421053 1.836421053 1 NA NA 0 NA NA 1 4 NA 1 1 6.14E-40 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 84070627 G A - - - - - - 51 0 0 26 7 26.9 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.073852295 1.073852295 1 0.332245614 0.332245614 1 NA NA 0 NA NA 1 4 NA 1 1 4.73E-11 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84132639 C A - - - - - - 59 0 0 46 22 47.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.555459113 1.277729556 2 2.224894737 1.112447368 2 NA NA 0 NA NA 1 4 NA 1 1 1.68E-38 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 84137872 A T - - - - - - 33 0 0 40 10 25 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.248003992 1.248003992 1 0.760826604 0.760826604 1 NA NA 1 NA NA 0 4 NA 1 1 7.22E-15 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 130416109 C T - - - - - - 17 0 0 31 17 54.8 14 5 35.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.28362475 1.094541583 3 3.845578947 0.961394737 4 NA NA 1 NA NA 1 4 NA 1 1 1.89E-31 1 6.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 80339183 C A - - - - - - 60 0 0 48 11 22.9 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.143171657 1.143171657 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.31E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 84234455 C T - - - - - - 40 0 0 19 9 47.4 14 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.892215569 0.946107784 2 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.72E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84242727 C A - - - - - - 51 0 0 53 9 17 35 3 8.6 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.908845291 0.908845291 1 1.012385965 1.012385965 1 5.346148771 2.673074386 2 NA NA 1 4 NA 1 1 7.10E-12 0.000025 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 84318504 C T - - - - - - 45 0 0 57 14 24.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.474035928 1.474035928 1 2.208245614 1.104122807 2 NA NA 1 NA NA 1 4 NA 1 1 3.84E-20 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 134314689 A G - - - - - - 46 0 0 49 16 32.7 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.959389222 0.979694611 2 1.131052632 1.131052632 1 NA NA 1 NA NA 1 4 NA 1 1 4.37E-25 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 84342016 C A - - - - - - 56 0 0 46 20 43.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.171526946 1.085763473 2 2.122800156 1.061400078 2 NA NA 1 NA NA 0 4 NA 1 1 4.72E-34 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 84353728 C A - - - - - - 58 0 0 54 6 11.1 40 0 0 57 0 0 393 24 6.1 323 1 0.3 0.961080446 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.554113772 0.554113772 1 0 NA 0 0.304512974 0.304512974 1 0.028178763 NA 0 NA NA 1 1 0.000000329 1.47E-18 1 0.801913408 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 10 84458844 C T NRG3 CCDS31233.1 r.? - - intronic 45 0 0 29 15 51.7 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.063872255 1.031936128 2 1.333333333 1.333333333 1 NA NA 1 NA NA 1 4 NA 1 1 2.22E-27 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 84482567 C T NRG3 CCDS31233.1 r.? - - intronic 41 0 0 29 16 55.2 20 6 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.203592814 1.101796407 2 2.631578947 1.315789474 2 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 5.70E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 84496865 T C ZNF711 CCDS35344.1 r.? - - upstream 56 0 0 34 12 35.3 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 1.056181637 1.056181637 1 1.615281014 1.615281014 1 NA NA 0 NA NA 0 4 NA 1 1 1.21E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84544904 A T - - - - - - 52 0 0 32 10 31.2 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.667998417 1.667998417 1 0.941754386 0.941754386 1 NA NA 0 NA NA 1 4 NA 1 1 5.70E-16 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 84555470 C G PRKACB CCDS691.1 r.? - - intronic 54 0 0 35 4 11.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.56908982 0.56908982 1 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000289 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 84556369 G A - - - - - - 18 0 0 40 15 37.5 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.997005988 0.999001996 3 2.814414527 0.938138176 3 NA NA 1 NA NA 0 4 NA 1 1 1.09E-24 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 3212411 A G TSPAN9 CCDS8520.1 r.? - - intronic 41 0 0 75 23 30.7 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.532548902 0.766274451 2 2.198684211 1.099342105 2 NA NA 1 NA NA 1 4 NA 1 1 1.10E-34 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 84593482 A T - - - - - - 66 0 0 60 10 16.7 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.549368421 0.549368421 1 NA NA 1 NA NA 1 4 NA 1 1 5.86E-13 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 84648064 C A - - - - - - 57 0 0 41 8 19.5 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.973443114 0.973443114 1 0.685683236 0.685683236 1 NA NA 1 NA NA 0 4 NA 1 1 3.22E-11 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84673273 C T - - - - - - 52 0 0 45 10 22.2 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.186845027 1.186845027 1 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.66E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84694541 C G - - - - - - 69 0 0 39 17 43.6 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.330920864 1.165460432 2 1.907052632 1.907052632 1 NA NA 0 NA NA 1 4 NA 1 1 3.51E-29 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 84706941 G A - - - - - - 44 0 0 27 19 70.4 32 10 31.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.810379242 1.405189621 2 2.736842105 1.368421053 2 NA NA 1 NA NA 1 4 NA 1 1 4.08E-38 1 5.70E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 84723007 C G - - - - - - 46 0 0 44 15 34.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.702277445 0.851138723 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.12E-24 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 84824138 G C - - - - - - 39 0 0 31 8 25.8 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.28794012 1.28794012 1 0.623912281 0.623912281 1 NA NA 0 NA NA 1 4 NA 1 1 2.78E-12 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 6709351 G A CHD4 CCDS8552.1 r.? - - intronic 23 0 0 25 4 16 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.798722555 0.798722555 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000727 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84850892 A G - - - - - - 50 0 0 42 11 26.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.400690978 1.400690978 1 0.977070175 0.977070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.81E-16 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 8804460 C A MFAP5 CCDS8595.1 r.? - - intronic 39 0 0 38 9 23.7 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.183107784 1.183107784 1 1.182403509 1.182403509 1 NA NA 1 NA NA 1 4 NA 1 1 2.79E-13 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 10516071 C A AC022075.1 ENST00000500682 r.? - - upstream 43 0 0 33 5 15.2 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.758786427 0.758786427 1 0.723122807 0.723122807 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000066 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 11751810 C T - - - - - - 40 0 0 42 8 19 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.948483034 0.948483034 1 0.752438596 0.752438596 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-11 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 84967546 T A - - - - - - 51 0 0 51 18 35.3 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.115181637 1.057590818 2 0.894070175 0.894070175 1 NA NA 1 NA NA 1 4 NA 1 1 9.10E-29 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 84968765 C A - - - - - - 36 0 0 52 11 21.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.694307385 0.847153693 2 1.599380943 1.599380943 1 NA NA 1 NA NA 0 4 NA 1 1 2.44E-15 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 84980224 C G - - - - - - 23 0 0 39 4 10.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.720177645 0.720177645 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 85033558 C A CADM2 ENST00000383699 r.? - - intronic 42 0 0 37 10 27 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.443460168 1.443460168 1 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 3.01E-15 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 85042143 C T - - - - - - 43 0 0 24 7 29.2 26 6 23.1 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.873668663 0.873668663 1 1.865649572 1.865649572 1 NA NA 1 0 NA 0 4 NA 1 1 2.51E-11 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 85065095 T C C2orf89 CCDS46349.1 r.? - - intronic 59 0 0 47 12 25.5 47 5 10.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 1.141824561 1.141824561 1 NA NA 1 NA NA 1 4 NA 1 1 1.09E-17 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 85068274 C A C2orf89 CCDS46349.1 r.? - - intronic 45 0 0 38 15 39.5 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.366846307 1.183423154 2 2.272877193 1.136438596 2 NA NA 1 NA NA 1 4 NA 1 1 4.24E-25 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 85081995 T A - - - - - - 45 0 0 40 16 40 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 8.56E-27 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 85085748 G T - - - - - - 49 0 0 38 23 60.5 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.415169661 1.20758483 2 1.221491228 1.221491228 1 NA NA 0 NA NA 1 4 NA 1 1 1.72E-43 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 93552978 C T - - - - - - 47 0 0 45 9 20 48 5 10.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.998403194 0.998403194 1 0.976863788 0.976863788 1 NA NA 1 NA NA 0 4 NA 1 1 1.47E-12 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 85104538 T C SSX2IP CCDS699.1 r.? - - downstream 36 0 0 42 8 19 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.948483034 0.948483034 1 0.718087719 0.718087719 1 NA NA 0 NA NA 1 4 NA 1 1 3.96E-11 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 85111382 A G - - - - - - 71 0 0 32 13 40.6 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.620758483 0.810379242 2 1.421052632 1.421052632 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-22 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 12752233 T A - - - - - - 65 0 0 41 5 12.2 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.609025948 0.609025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 85118331 T A - - - - - - 44 0 0 39 6 15.4 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.768770459 0.768770459 1 0.78133952 0.78133952 1 NA NA 1 NA NA 0 4 NA 1 1 4.43E-08 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 85128866 A G CADM2 ENST00000383699 r.? - - intronic 55 0 0 39 7 17.9 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.95696063 0.95696063 1 0.635684211 0.635684211 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 15256137 G T RERG CCDS8673.1 r.? - - downstream 63 0 0 42 9 21.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.068291417 1.068291417 1 1.631912281 1.631912281 1 NA NA 1 NA NA 1 4 NA 1 1 7.51E-13 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 85159475 T A ZSCAN2 CCDS10329.2 r.? - - intronic 48 0 0 39 17 43.6 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.176518962 1.088259481 2 1.358849205 1.358849205 1 NA NA 1 NA NA 0 4 NA 1 1 3.51E-29 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 85166636 G A - - - - - - 14 0 0 40 15 37.5 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.997005988 0.999001996 3 2.950795847 0.983598616 3 NA NA 1 NA NA 0 4 NA 1 1 1.09E-24 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 85201254 G A KCMF1 CCDS46350.1 r.? - - intronic 22 0 0 42 13 31 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 85225658 C T - - - - - - 54 1 1.9 50 16 32 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.91744511 0.958722555 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 0.237137336 1 6.40E-25 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 85229007 G A - - - - - - 47 0 0 47 6 12.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.766978044 0.766978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 85229043 A T - - - - - - 65 0 0 51 4 7.8 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.467377246 0.467377246 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000129466 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 85242546 G A - - - - - - 47 0 0 39 21 53.8 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.147704591 1.073852295 2 1.00877193 1.00877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.73E-38 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 85247205 C G - - - - - - 17 0 0 43 16 37.2 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.97302994 0.99100998 3 3.471524526 1.157174842 3 NA NA 1 NA NA 0 4 NA 1 1 3.56E-26 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 85260137 C G - - - - - - 67 0 0 53 17 32.1 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 3.587052632 1.793526316 2 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 85265367 C T - - - - - - 51 0 0 49 20 40.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.444742515 1.222371257 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 85291375 G A - - - - - - 56 0 0 57 6 10.5 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.734161677 0.734161677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000456 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 85293834 A C - - - - - - 54 0 0 49 5 10.2 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.713185629 0.713185629 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 85304333 T C - - - - - - 55 0 0 33 10 30.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.209580838 1.209580838 1 1.526315789 1.526315789 1 NA NA 1 NA NA 1 4 NA 1 1 8.14E-16 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 85340544 T C ZNF592 CCDS32317.1 r.? - - intronic 39 0 0 31 10 32.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.612421158 1.612421158 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 3.94E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 85375024 T C - - - - - - 47 0 0 22 7 31.8 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.951461078 0.951461078 1 1.752579901 1.752579901 1 NA NA 1 NA NA 1 4 NA 1 1 1.25E-11 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 85392327 C G - - - - - - 49 0 0 36 13 36.1 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.802117764 0.901058882 2 0.826766236 0.826766236 1 NA NA 1 NA NA 0 4 NA 1 1 2.53E-21 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 85397065 G A - - - - - - 53 0 0 50 15 30 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.09760479 1.048802395 2 2.107175439 2.107175439 1 NA NA 1 NA NA 1 4 NA 1 1 5.83E-23 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 85451848 C A - - - - - - 45 0 0 63 12 19 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.15E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 85452186 C G - - - - - - 57 0 0 53 6 11.3 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.790097804 0.790097804 1 0.671 0.671 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000293 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 85458981 C A CADM2 ENST00000383699 r.? - - intronic 44 0 0 40 13 32.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.737498351 1.05567348 1.645867197 1.812877193 1.812877193 1 NA NA 0 NA NA 1 4 NA 1 1 1.30E-20 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 85496077 C T - - - - - - 23 0 0 34 14 41.2 14 2 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.292710579 1.097570193 3 1.772957169 1.772957169 1 NA NA 1 NA NA 0 4 NA 1 1 7.74E-24 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 85500554 G A DACH2 CCDS48140.1 r.? - - intronic 44 0 0 37 11 29.7 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.888628743 0.888628743 1 2.26139342 1.733565604 1.304475247 NA NA 1 NA NA 1 4 NA 1 1 3.70E-17 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 85503940 T A CDS1 CCDS3608.1 r.? - - upstream 16 0 0 24 7 29.2 7 0 0 3 0 0 1 1 100 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.457668663 1.457668663 1 0 NA 0 4.992015968 4.992015968 1 NA NA 0 NA NA 1 1 2.51E-11 0.005 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 85508235 C A - - - - - - 22 0 0 26 10 38.5 9 4 44.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.076926148 1.025642049 3 5.504846035 1.834948678 3 NA NA 1 NA NA 0 4 NA 1 1 4.82E-17 1 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 17367990 G A - - - - - - 55 0 0 47 6 12.8 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 0.596087719 0.596087719 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000141 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 85526759 G A - - - - - - 56 0 0 45 12 26.7 52 6 11.5 155 0 0 364 68 18.7 314 14 4.5 4.74E-06 TRUE TRUE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.332868263 1.332868263 1 1.08018592 1.08018592 1 0.933506986 0.933506986 1 0.422681447 0.680656078 0.620991218 4 3 1 1 6.03E-18 5.65E-83 0.000000261 1.17E-09 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 85583597 A T DACH2 CCDS48140.1 r.? - - intronic 56 0 0 26 5 19.2 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 0.574467066 0.574467066 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000188 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 85624774 C G - - - - - - 48 0 0 47 6 12.8 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.510978044 0.510978044 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 85636550 C T - - - - - - 44 0 0 24 10 41.7 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.664670659 0.832335329 2 0.210526316 0.210526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.80E-17 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 85643645 A G - - - - - - 38 0 0 38 20 52.6 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.099800399 1.0499002 2 1.954385965 1.954385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.94E-36 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 85652546 A G - - - - - - 55 0 0 35 11 31.4 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.253493014 1.253493014 1 0.263157895 0.263157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-17 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 85680280 T C KIAA0182 CCDS10952.1 r.? - - intronic 16 0 0 41 8 19.5 10 1 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.558443114 1.558443114 1 1.239830188 1.239830188 1 NA NA 1 NA NA 0 4 NA 1 1 3.22E-11 1 0.04888987 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 85784614 C A - - - - - - 52 0 0 59 17 28.8 46 3 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.725700599 0.862850299 2 0.700175439 0.700175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.74E-25 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 85831696 T C C2orf68 CCDS42704.1 r.? - - downstream 42 0 0 58 16 27.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.653796407 0.826898204 2 2.068210526 2.068210526 1 NA NA 1 NA NA 1 4 NA 1 1 1.00E-23 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 85911031 C A - - - - - - 46 0 0 26 4 15.4 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.768770459 0.768770459 1 0.361561404 0.361561404 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000856 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 85924425 C A - - - - - - 62 0 0 42 13 31 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 109842433 A C - - - - - - 55 0 0 27 7 25.9 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.033932136 1.033932136 1 1.497298246 1.497298246 1 NA NA 0 NA NA 1 4 NA 1 1 6.36E-11 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 85948021 G A - - - - - - 45 0 0 54 18 33.3 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.025122807 2.025122807 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-28 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 85952751 T A IRF8 CCDS10956.1 r.? - - intronic 14 0 0 47 17 36.2 41 13 31.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.89310978 0.964369927 3 3.930261696 1.310087232 3 NA NA 1 NA NA 0 4 NA 1 1 1.81E-27 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 85957367 A G - - - - - - 46 0 0 55 13 23.6 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.414115768 1.414115768 1 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 1.46E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 85957985 A G AKAP13 CCDS32320.1 r.? - - intronic 47 0 0 36 19 52.8 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.635784431 1.317892216 2 2.516387417 1.09712489 2.293619843 NA NA 0 NA NA 1 4 NA 1 1 1.51E-34 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28192665 G T - - - - - - 26 0 0 23 6 26.1 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.302916168 1.302916168 1 0.752438596 0.752438596 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-09 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28324168 C T - - - - - - 52 0 0 44 7 15.9 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793730539 0.793730539 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.55E-09 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 86081811 T G CCDC81 CCDS8276.1 r.? - - upstream 45 0 0 46 12 26.1 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 2.673496181 2 2 2 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.563916168 1.563916168 1 0.28336278 NA 0 NA NA 1 NA NA 0 NA NA 1 1 8.12E-18 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 86122818 C A - - - - - - 65 0 0 56 19 33.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.031293413 1.015646707 2 2.089754386 1.044877193 2 NA NA 1 NA NA 1 4 NA 1 1 6.79E-30 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 86154858 T G - - - - - - 51 0 0 32 10 31.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.557508982 1.557508982 1 1.485333333 1.485333333 1 NA NA 1 NA NA 1 4 NA 1 1 5.70E-16 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 86178342 G C - - - - - - 52 0 0 41 10 24.4 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.974051896 0.974051896 1 0.700175439 0.700175439 1 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 86234298 C G - - - - - - 52 0 0 44 20 45.5 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.271367265 1.135683633 2 3.353272812 1.676636406 2 NA NA 1 NA NA 0 4 NA 1 1 1.50E-34 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 86260251 A C ME3 CCDS8277.1 r.? - - intronic 48 0 0 43 11 25.6 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.673496181 2 2 2 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.533956088 1.533956088 1 2.049657443 2.049657443 1 NA NA 1 NA NA 0 4 NA 1 1 2.42E-16 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 28842271 G T - - - - - - 52 0 0 46 18 39.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.951878244 0.975939122 2 2.276859649 1.138429825 2 NA NA 1 NA NA 1 4 NA 1 1 9.41E-30 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 86287956 T G - - - - - - 46 0 0 51 20 39.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.956870259 0.97843513 2 2.667736842 1.333868421 2 NA NA 1 NA NA 1 4 NA 1 1 6.38E-33 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 71628154 C A COL13A1 CCDS44420.1 r.? - - intronic 36 0 0 41 14 34.1 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 2.144630237 0.933575419 2.297222263 0.721719298 0.721719298 1 NA NA 0 NA NA 0 4 NA 1 1 1.90E-22 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 86303710 T A COL24A1 CCDS41353.1 r.? - - intronic 54 0 0 44 8 18.2 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.90E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 86326554 A G - - - - - - 50 0 0 37 5 13.5 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.538922156 0.538922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 86353834 C T PTCD3 CCDS33235.1 r.? - - intronic 20 0 0 46 5 10.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 86360611 T C GRM3 CCDS5600.1 r.? - - intronic 46 0 0 55 10 18.2 44 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 0.247754386 0.247754386 1 NA NA 1 NA NA 1 4 NA 1 1 2.33E-13 1 0.197923942 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 86368156 C G SLITRK6 CCDS41903.1 r.3087g>c c.2488G>C p.E830Q missense 54 0 0 45 5 11.1 30 0 0 154 1 0.6 245 12 4.9 187 0 0 1 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0 0 1 0.293608782 0.293608782 1 0 0 1 3 2 1 0.537880351 0.00000323 6.19E-09 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 86369367 A T - - - - - - 42 0 0 43 10 23.3 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.245652664 1.245652664 1 1.153649123 1.153649123 1 NA NA 0 NA NA 1 4 NA 1 1 1.61E-14 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 86375687 C T CA2 CCDS6239.1 r.? - - upstream 21 0 0 35 5 14.3 12 2 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.713858283 0.713858283 1 1.568617814 1.568617814 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000895 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 86406695 C T - - - - - - 58 0 0 29 14 48.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 1.445143713 1.445143713 1 1.446245614 1.446245614 1 NA NA 0 NA NA 1 4 NA 1 1 4.41E-25 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 86428366 C A - - - - - - 39 0 0 32 18 56.2 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.243512974 1.121756487 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.68E-33 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 86439881 A T GRM3 CCDS5600.1 r.? - - intronic 47 0 0 53 24 45.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.714383234 1.357191617 2 2.089754386 1.044877193 2 NA NA 1 NA NA 1 4 NA 1 1 4.04E-41 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 102625145 A G - - - - - - 19 0 0 36 23 63.9 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.550898204 1.275449102 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 2.59E-44 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 86447276 C A - - - - - - 57 0 0 36 11 30.6 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.833556886 0.916778443 2 1.701964912 1.701964912 1 NA NA 1 NA NA 1 4 NA 1 1 2.62E-17 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 86513230 T C - - - - - - 55 0 0 38 6 15.8 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.788738523 0.788738523 1 1.408938156 1.408938156 1 NA NA 1 NA NA 0 4 NA 1 1 3.76E-08 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 86549539 A T KIAA1324L CCDS47632.1 r.? - - intronic 64 0 0 57 9 15.8 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.946738523 0.946738523 1 0.323157895 0.323157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.42E-11 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 29670504 G A TMTC1 CCDS8718.1 r.2175c>u c.1701C>T p.R567R silent 48 0 0 43 8 18.6 30 6 20 270 0 0 114 19 16.7 132 27 20.5 3.44E-27 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.92851497 0.92851497 1 1.954385965 1.954385965 1 0.833666667 0.833666667 1 2.003245614 1.001622807 2 4 3 1 1 4.85E-11 2.46E-23 8.37E-09 4.26E-35 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 86568685 A T - - - - - - 49 0 0 44 13 29.5 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.577113888 1.577113888 1 3.048929825 1.016309942 3 NA NA 0 NA NA 1 4 NA 1 1 5.49E-20 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 86601935 C G - - - - - - 38 0 0 52 8 15.4 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.823306911 0.823306911 1 0.329614035 0.329614035 1 NA NA 0 NA NA 1 4 NA 1 1 2.42E-10 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 86609456 T G - - - - - - 51 0 0 37 22 59.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.375249501 1.18762475 2 1.358298246 1.358298246 1 NA NA 0 NA NA 1 4 NA 1 1 2.08E-41 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 86612845 G A FOXL1 CCDS10959.1 r.731g>a c.516G>A p.A172A silent 15 0 0 30 5 16.7 6 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.334666667 1.334666667 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 86643041 C G RASA1 CCDS47243.1 r.? - - intronic 53 0 0 50 16 32 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.91744511 0.958722555 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 6.40E-25 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 86696375 G A - - - - - - 51 0 0 24 12 50 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.837122807 1.837122807 1 NA NA 0 NA NA 1 4 NA 1 1 6.25E-22 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 86713658 C A - - - - - - 46 0 0 41 10 24.4 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 86721153 T A - - - - - - 36 0 0 51 16 31.4 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.881493014 0.940746507 2 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 9.28E-25 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 86775004 C G - - - - - - 52 0 0 33 9 27.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.362820359 1.362820359 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 6.76E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 86860369 T A - - - - - - 41 0 0 32 7 21.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.874251497 0.874251497 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.36E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 86922412 C A VPS24 ENST00000409384 r.? - - intronic 32 0 0 33 11 33.3 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 0.657087719 0.657087719 1 NA NA 1 NA NA 1 4 NA 1 1 8.54E-18 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 86939885 C T TMEM135 CCDS8280.1 r.? - - intronic 76 1 1.3 54 16 29.6 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.673496181 2 2 2 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.773636727 0.886818363 2 1.832412645 1.832412645 1 NA NA 1 NA NA 0 4 NA 0.316790122 1 2.69E-24 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 86958521 G A - - - - - - 58 0 0 43 11 25.6 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.368614085 1.368614085 1 1.589210526 1.589210526 1 NA NA 0 NA NA 1 4 NA 1 1 2.42E-16 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 86985534 C A - - - - - - 46 0 0 39 24 61.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.45508982 1.22754491 2 2.342105263 1.171052632 2 NA NA 1 NA NA 1 4 NA 1 1 1.39E-45 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 87022452 C A CROT CCDS5604.1 r.? - - intronic 69 0 0 53 14 26.4 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.581892216 0.790946108 2 0.657087719 0.657087719 1 NA NA 1 NA NA 1 4 NA 1 1 1.22E-20 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 87026309 C T - - - - - - 43 0 0 43 5 11.6 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.463073852 0.463073852 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 87037936 T C - - - - - - 51 0 0 33 19 57.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 1.723401198 1.723401198 1 2.022789474 2.022789474 1 NA NA 0 NA NA 1 4 NA 1 1 1.46E-35 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87045752 A T - - - - - - 47 0 0 52 17 32.7 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.632389222 0.816194611 2 1.192175439 1.192175439 1 NA NA 1 NA NA 1 4 NA 1 1 1.42E-26 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 87052570 T C AGBL1 ENST00000421325 r.? - - intronic 46 0 0 29 16 55.2 30 12 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.755592814 1.377796407 2 4.026219867 1.755399823 2.293619843 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87056225 G C - - - - - - 60 0 0 47 7 14.9 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.743810379 0.743810379 1 0.977192982 0.977192982 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-09 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 87076878 G C CD8B CCDS1997.1 r.? - - intronic 31 0 0 42 7 16.7 20 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 87099223 C T - - - - - - 20 0 0 53 9 17 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.848642715 0.848642715 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.10E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 87125798 T C - - - - - - 46 0 0 37 22 59.5 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.375249501 1.18762475 2 3.254052632 1.084684211 3 NA NA 0 NA NA 1 4 NA 1 1 2.08E-41 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 87166318 A T - - - - - - 54 0 0 42 15 35.7 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.908575111 0.954287556 2 2.848807018 0.949602339 3 NA NA 0 NA NA 1 4 NA 1 1 2.65E-24 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 87185550 T G - - - - - - 54 0 0 22 8 36.4 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 3 NA 2 NA 1 NA 1 NA NA NA NA NA NA NA NA 1 2.667736842 1.333868421 2 NA NA 1 NA NA 1 NA NA 1 1 1.17E-13 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 87204608 G A - - - - - - 39 0 0 16 9 56.2 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.243512974 1.121756487 2 1.947368421 1.947368421 1 NA NA 1 NA NA 1 4 NA 1 1 2.16E-17 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 31888939 C A - - - - - - 33 0 0 33 14 42.4 16 1 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.11661477 1.058307385 2 0.605859649 0.605859649 1 NA NA 1 NA NA 1 4 NA 1 1 4.57E-24 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 87206397 C T SH3GLB1 CCDS710.1 r.? - - intronic 29 0 0 37 7 18.9 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.943491018 0.943491018 1 1.412631579 1.412631579 1 NA NA 0 NA NA 1 4 NA 1 1 7.05E-10 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 40446756 C A SLC2A13 CCDS8736.2 r.? - - intronic 49 0 0 49 20 40.8 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.036742515 1.018371257 2 3.029298246 1.514649123 2 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 87226432 A T - - - - - - 50 0 0 45 5 11.1 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000323 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87227589 A T - - - - - - 62 0 0 40 8 20 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 2.022789474 2.022789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 87274525 C T - - - - - - 47 0 0 45 8 17.8 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.888578842 0.888578842 1 0.946161669 0.946161669 1 NA NA 1 NA NA 0 4 NA 1 1 7.14E-11 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 87285944 G A CHMP2B CCDS2918.1 r.? - - intronic 52 0 0 39 17 43.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.330920864 1.165460432 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 3.51E-29 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 87292110 C A - - - - - - 59 0 0 43 8 18.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.74251497 0.74251497 1 2.169368421 1.084684211 2 NA NA 0 NA NA 1 4 NA 1 1 4.85E-11 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 87333102 C T - - - - - - 44 0 0 35 17 48.6 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.91211976 1.45605988 2 1.723508772 1.723508772 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-30 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 87365057 A G - - - - - - 43 0 0 48 13 27.1 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.448806317 1.448806317 1 2.283754386 1.141877193 2 NA NA 0 NA NA 1 4 NA 1 1 2.00E-19 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 87374707 A G - - - - - - 43 0 0 41 24 58.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.335329341 1.167664671 2 2.324561404 1.162280702 2 NA NA 1 NA NA 1 4 NA 1 1 8.33E-45 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 87388044 T C MAPK10 CCDS5429.1 r.? - - intronic 48 0 0 45 10 22.2 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.108227545 1.108227545 1 2.062372918 2.062372918 1 NA NA 1 NA NA 0 4 NA 1 1 2.66E-14 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 41090870 C G - - - - - - 39 0 0 35 4 11.4 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.56908982 0.56908982 1 0.947877193 0.947877193 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000289 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 87480966 A G TMEM161B ENST00000514135 r.? - - downstream 48 0 0 48 14 29.2 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.749668663 0.874834331 2 0.280070175 0.280070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-21 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 87495851 C A - - - - - - 55 0 0 41 12 29.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.462660679 1.462660679 1 0.362359788 0.362359788 1 NA NA 0 NA NA 0 4 NA 1 1 1.69E-18 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 87528718 G A CPNE3 CCDS6243.1 r.? - - intronic 55 0 0 54 8 14.8 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.738818363 0.738818363 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.31E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 87550175 G A - - - - - - 38 0 0 42 7 16.7 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.334666667 1.334666667 1 0.322355849 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.81E-09 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 87584389 C A - - - - - - 11 0 0 34 16 47.1 9 1 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 3.764239521 1.254746507 3 1.376211509 1.376211509 1 NA NA 1 NA NA 0 4 NA 1 1 3.09E-28 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 87596471 G A GRID1 CCDS31236.1 r.? - - intronic 33 0 0 33 6 18.2 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.726546906 0.726546906 1 0.438596491 0.438596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 87633293 G T JPH3 CCDS10962.1 r.? - - upstream 35 0 0 43 4 9.3 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.743257485 0.743257485 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 87690064 T C - - - - - - 49 0 0 40 18 45 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.246407186 1.123203593 2 1.389045854 1.389045854 1 NA NA 0 NA NA 0 4 NA 1 1 3.90E-31 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 87712393 T C - - - - - - 37 0 0 42 9 21.4 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.068291417 1.068291417 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 7.51E-13 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 87720285 G A HTR1E CCDS5006.1 r.? - - intronic 15 0 0 21 10 47.6 12 3 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.900199601 0.9500998 2 2.192982456 2.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.28E-18 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87731964 A G - - - - - - 65 0 0 47 21 44.7 43 11 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.231431138 1.115715569 2 2.501614035 1.250807018 2 NA NA 1 NA NA 1 4 NA 1 1 5.29E-36 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 87800222 G T - - - - - - 41 0 0 44 17 38.6 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.312918164 1.156459082 2 3.016140351 1.508070175 2 NA NA 1 NA NA 1 4 NA 1 1 4.61E-28 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87801905 G A - - - - - - 64 0 0 37 7 18.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.943491018 0.943491018 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.05E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 87908246 C T RAB38 CCDS8281.1 r.? - - intronic 22 0 0 45 11 24.4 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.218051896 1.218051896 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.24E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 45411065 G T DBX2 CCDS31781.1 r.? - - intronic 49 0 0 38 8 21.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.053315369 1.053315369 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.67E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 87944725 A T ZNF292 CCDS47457.1 r.? - - intronic 62 0 0 29 11 37.9 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.512974052 1.512974052 1 0.605263158 0.605263158 1 NA NA 1 NA NA 1 4 NA 1 1 1.56E-18 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 119375542 G A - - - - - - 42 0 0 41 22 53.7 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.143712575 1.071856287 2 2.342105263 1.171052632 2 NA NA 1 NA NA 1 4 NA 1 1 5.33E-40 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 87994806 G C - - - - - - 56 0 0 62 5 8.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.485353293 0.485353293 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87995611 T C - - - - - - 51 0 0 53 20 37.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.88199002 0.94099501 2 2.667736842 1.333868421 2 NA NA 1 NA NA 1 4 NA 1 1 1.65E-32 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 87997342 A G - - - - - - 15 0 0 18 4 22.2 14 2 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000181 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 51292725 A G - - - - - - 48 0 0 47 25 53.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.655752495 1.327876248 2 2.609105263 1.304552632 2 NA NA 1 NA NA 1 4 NA 1 1 3.98E-45 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 88066279 A C - - - - - - 32 0 0 41 18 43.9 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.346959311 1.173479655 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 6.91E-31 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 53742033 C A - - - - - - 37 0 0 32 6 18.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.938499002 0.938499002 1 1.807807018 1.807807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.27E-08 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 54312352 T C - - - - - - 50 0 0 40 8 20 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.397385965 1.397385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 88122310 G A - - - - - - 38 0 0 57 5 8.8 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.527297405 0.527297405 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 88158221 A G - - - - - - 56 0 0 40 8 20 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 2.61E-11 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 88198939 T A - - - - - - 44 0 0 43 23 53.5 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.670728543 1.335364271 2 1.553593696 1.553593696 1 NA NA 1 NA NA 0 4 NA 1 1 1.04E-41 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 88231657 A C - - - - - - 38 0 0 41 13 31.7 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.582469062 0.791234531 2 0.423789474 0.423789474 1 NA NA 0 NA NA 1 4 NA 1 1 1.89E-20 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 88254865 G T HSD17B11 CCDS3619.1 r.? - - downstream 54 0 0 51 7 13.7 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.683906188 0.683906188 1 0.181706865 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.46E-09 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 88263543 A G - - - - - - 50 0 0 34 16 47.1 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.351239521 1.17561976 2 1.778491228 1.778491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.09E-28 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 61831069 C T - - - - - - 47 0 0 40 10 25 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-15 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 88309664 A T - - - - - - 43 0 0 41 15 36.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.95669045 0.978345225 2 2.107175439 2.107175439 1 NA NA 0 NA NA 1 4 NA 1 1 1.71E-24 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 66672023 G A - - - - - - 44 0 0 49 20 40.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.036742515 1.018371257 2 2.697052632 1.348526316 2 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 88328810 C T CNBD1 ENST00000319712 r.? - - intronic 68 0 0 46 7 15.2 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.758786427 0.758786427 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 88338998 G T - - - - - - 66 0 0 46 9 19.6 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 0.195438596 0.195438596 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 88483635 G T LDB3 CCDS41544.1 r.? - - intronic 35 0 0 32 7 21.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.874251497 0.874251497 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.36E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 88502468 C A CEP290 ENST00000309041 r.? - - intronic 71 0 0 46 26 56.5 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.820489022 1.410244511 2 2.257315789 1.128657895 2 NA NA 1 NA NA 1 4 NA 1 1 7.59E-48 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 88588381 T G ZNF804B CCDS5613.1 r.? - - intronic 51 0 0 53 6 11.3 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.677097804 0.677097804 1 0.764807018 0.764807018 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000293 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 88735686 C T GRM5 CCDS44694.1 r.? - - intronic 45 0 0 39 5 12.8 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.638978044 0.638978044 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 88770342 C A - - - - - - 37 0 0 37 5 13.5 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.673922156 0.673922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 68290490 T C - - - - - - 42 0 0 45 11 24.4 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 0.947877193 0.947877193 1 NA NA 1 NA NA 1 4 NA 1 1 4.24E-16 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 88813274 G A - - - - - - 51 0 0 34 17 50 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.64E-30 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 88817129 G A - - - - - - 58 0 0 57 20 35.1 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.103197605 1.051598802 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 9.67E-32 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 88919616 T C - - - - - - 39 0 0 45 5 11.1 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.554113772 0.554113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 88919617 C T - - - - - - 39 0 0 44 5 11.4 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.56908982 0.56908982 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 88939573 C T - - - - - - 46 0 0 23 8 34.8 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.539412018 3 1 2 0 1 0.460587982 1 1 NA 1 NA 0.539412018 NA 1.228936939 1.228936939 1 3.381087719 1.69054386 2 NA NA 0 NA NA 1 4 NA 1 1 1.79E-13 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 88995168 G T CBFA2T3 CCDS10972.1 r.? - - intronic 13 0 0 47 9 19.1 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.52647505 1.52647505 1 0.954669245 0.954669245 1 NA NA 1 NA NA 0 4 NA 1 1 2.24E-12 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 89002654 G C - - - - - - 56 0 0 31 12 38.7 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.539412018 3 1 2 0 1 0.460587982 1 1 NA 1 NA 0.539412018 NA 1.366662631 1.366662631 1 1.221491228 1.221491228 1 NA NA 0 NA NA 1 4 NA 1 1 3.16E-20 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 89015935 C T RPIA CCDS2004.2 r.? - - intronic 42 0 0 37 17 45.9 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.750335329 1.375167665 2 1.637333333 1.637333333 1 NA NA 1 NA NA 1 4 NA 1 1 1.10E-29 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 69026624 G A RAP1B CCDS8984.1 r.? - - intronic 30 0 0 35 5 14.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 2.697052632 1.348526316 2 NA NA 1 NA NA 1 4 NA 1 1 0.000000895 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 69920132 G T FRS2 CCDS41809.1 r.? - - intronic 41 0 0 40 18 45 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.246407186 1.123203593 2 1.719859649 1.719859649 1 NA NA 1 NA NA 1 4 NA 1 1 3.90E-31 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 89112506 G T - - - - - - 16 0 0 52 9 17.3 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.036618762 1.036618762 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 70189899 G T RAB3IP CCDS44942.1 r.? - - intronic 37 0 0 39 7 17.9 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89138983 T C - - - - - - 42 0 0 33 13 39.4 44 11 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.360854291 1.180427146 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 6.37E-22 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 89151455 A T - - - - - - 10 0 0 22 5 22.7 9 2 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.906187625 0.906187625 1 1.947368421 1.947368421 1 NA NA 1 NA NA 1 4 NA 1 1 7.67E-08 1 0.000879235 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89153747 A C - - - - - - 58 0 0 52 8 15.4 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.922770459 0.922770459 1 0.398561404 0.398561404 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-10 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 89170159 G T EPHA3 CCDS2922.1 r.? - - intronic 28 0 0 46 8 17.4 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.930229886 0.930229886 1 1.754017544 1.754017544 1 NA NA 0 NA NA 1 4 NA 1 1 8.61E-11 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 89178690 C G - - - - - - 57 0 0 48 17 35.4 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 2.628350877 1.314175439 2 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 89243659 G A - - - - - - 42 0 0 30 9 30 17 1 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.19760479 1.19760479 1 0.51754386 0.51754386 1 NA NA 1 NA NA 1 4 NA 1 1 2.54E-14 1 0.081683532 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89360381 C A - - - - - - 58 0 0 38 7 18.4 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0.700175439 0.700175439 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 134215920 T A PWWP2B CCDS7667.2 r.? - - intronic 13 0 0 42 28 66.7 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.662674651 1.331337325 2 1.850877193 1.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.84E-54 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89386615 T A - - - - - - 54 0 0 57 7 12.3 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.737017964 0.737017964 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.66E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 89400608 C T EPHA3 CCDS2922.1 r.? - - intronic 12 0 0 22 7 31.8 8 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.700075309 1.700075309 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.25E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 70189900 G C RAB3IP CCDS44942.1 r.? - - intronic 37 0 0 39 7 17.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.893570858 0.893570858 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89426450 T C - - - - - - 47 0 0 61 14 23 35 7 20 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.378163673 1.378163673 1 2.154385965 1.077192982 2 NA NA 1 0 0 1 4 NA 1 1 1.10E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89433222 G A - - - - - - 15 0 0 43 7 16.3 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.976698603 0.976698603 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.15E-09 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 89444294 G T EPHA3 CCDS2922.1 r.? - - intronic 55 0 0 49 9 18.4 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.983691374 0.983691374 1 0.635684211 0.635684211 1 NA NA 0 NA NA 1 4 NA 1 1 3.35E-12 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 89462229 G A - - - - - - 66 0 0 32 5 15.6 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.778754491 0.778754491 1 0.779612447 0.779612447 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000562 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 89470298 G C - - - - - - 32 0 0 35 4 11.4 23 0 0 1 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.56908982 0.56908982 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 89507270 G A - - - - - - 51 0 0 57 13 22.8 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.366179641 1.366179641 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.44E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 72069004 A T THAP2 CCDS9001.1 r.? - - intronic 47 0 0 37 12 32.4 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.617413174 0.808706587 2 0.889245614 0.889245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.03E-19 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89521029 A T - - - - - - 56 0 0 52 5 9.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 89540293 A G - - - - - - 56 0 0 49 8 16.3 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.813698603 0.813698603 1 0.376701754 0.376701754 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 89566566 A C - - - - - - 46 0 0 48 20 41.7 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.498670659 1.249335329 2 2.003578947 1.001789474 2 NA NA 1 NA NA 1 4 NA 1 1 1.40E-33 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 89589578 T A - - - - - - 35 0 0 56 7 12.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.624001996 0.624001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.46E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89590023 G A - - - - - - 43 0 0 44 16 36.4 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.181093812 1.090546906 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 5.57E-26 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 89596081 T A - - - - - - 72 0 0 82 5 6.1 48 2 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.365512974 0.365512974 1 0.452421053 0.452421053 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000619 1 0.024220359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 89616810 T A - - - - - - 73 0 0 50 13 26 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.297924152 1.297924152 1 1.246796233 1.246796233 1 NA NA 1 NA NA 0 4 NA 1 1 3.65E-19 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 89698544 G A - - - - - - 39 0 0 47 15 31.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.911453094 0.955726547 2 2.272877193 1.136438596 2 NA NA 1 NA NA 1 4 NA 1 1 1.97E-23 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 89776122 C T C16orf7 CCDS42220.1 r.? - - intronic 22 0 0 49 15 30.6 13 3 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9.627507909 5.626372055 5 3 4 2 0.372492091 0.373627945 5 3 5 3 0.627507909 0.626372055 3.555574306 1.054286922 3.372492091 2.864007734 2.864007734 1 NA NA 1 NA NA 0 4 NA 1 1 4.10E-23 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89792550 C T POLR3G CCDS43337.1 r.? - - intronic 62 0 0 52 7 13.5 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 0.721719298 0.721719298 1 NA NA 1 NA NA 1 4 NA 1 1 8.58E-09 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 89813132 C T FOXN3 CCDS32138.1 r.? - - intronic 56 0 0 32 11 34.4 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 1.768798046 0.956023756 1.850161184 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 5.72E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 89814980 G C LYSMD3 CCDS43338.1 r.722c>g c.577C>G p.Q193E missense 50 0 0 45 12 26.7 26 1 3.8 153 0 0 321 34 10.6 255 9 3.5 0.001211792 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.599868263 1.599868263 1 0.409333333 0.409333333 1 0.635153693 0.635153693 1 0.377017544 0.377017544 1 4 3 1 1 6.03E-18 1.33E-33 0.122190858 0.00000706 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 14 89857048 C T FOXN3 CCDS32138.1 r.? - - intronic 39 0 0 30 17 56.7 35 13 37.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 2.915431662 1.022900627 2.850161184 3.625385965 1.208461988 3 NA NA 1 NA NA 0 4 NA 1 1 8.59E-32 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 78136990 C A - - - - - - 63 0 0 50 13 26 47 9 19.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.297924152 1.297924152 1 1.866438596 0.933219298 2 NA NA 1 NA NA 1 4 NA 1 1 3.65E-19 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 89911330 G A - - - - - - 49 0 0 53 12 22.6 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.128195609 1.128195609 1 1.035929825 1.035929825 1 NA NA 0 NA NA 1 4 NA 1 1 5.39E-17 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 89931294 C T C7orf63 CCDS43613.1 r.? - - intronic 47 0 0 46 16 34.8 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.085221557 1.042610778 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.31E-25 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 78249650 G A NAV3 CCDS41815.1 r.? - - intronic 52 0 0 46 9 19.6 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.97843513 0.97843513 1 1.954385965 1.954385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 85157729 T C - - - - - - 47 0 0 53 25 47.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.356231537 1.178115768 2 1.260578947 1.260578947 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-43 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 90017143 T C DEF8 CCDS10989.1 r.? - - intronic 46 0 0 53 12 22.6 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9.627507909 5.626372055 5 3 4 2 0.372492091 0.373627945 5 3 5 3 0.627507909 0.626372055 2.626012396 1.10685823 2.372492091 4.017049809 1.339016603 3 NA NA 0 NA NA 0 4 NA 1 1 5.39E-17 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 90099113 C G - - - - - - 31 0 0 26 5 19.2 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.655761928 4 2 2 1 2 0.344238072 1 3 NA 1 NA 0.655761928 NA 1.084373356 1.084373356 1 0.538596491 0.538596491 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000188 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 90105873 G C - - - - - - 58 0 0 28 10 35.7 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.425149701 1.425149701 1 0.366245614 0.366245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.18E-16 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 90133963 A G LRRC8C CCDS725.1 r.? - - intronic 54 0 0 31 8 25.8 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.28794012 1.28794012 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 2.78E-12 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 90168950 G T - - - - - - 20 0 0 36 13 36.1 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9.627507909 5.626372055 5 3 4 2 0.372492091 0.373627945 5 3 5 3 0.627507909 0.626372055 4.19464812 0.959326634 4.372492091 2.913600942 0.971200314 3 NA NA 0 NA NA 0 4 NA 1 1 2.53E-21 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 90265822 C T - - - - - - 39 0 0 47 20 42.6 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.126598802 1.063299401 2 2.188550603 1.094275301 2 NA NA 1 NA NA 0 4 NA 1 1 8.18E-34 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 90338814 C T CDK14 CCDS5619.1 r.103c>u c.? p.? 5'UTR variant 46 0 0 53 7 13.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.85E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 90348705 C G CTSL1 CCDS6675.1 r.? - - downstream 35 0 0 45 5 11.1 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.443113772 0.443113772 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 90360747 A T - - - - - - 41 0 0 48 13 27.1 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.352836327 1.352836327 1 0.638718631 0.638718631 1 NA NA 1 NA NA 0 4 NA 1 1 2.00E-19 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 90449210 G T - - - - - - 28 1 3.6 51 6 11.8 5 1 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.655761928 4 2 2 1 2 0.344238072 1 3 NA 1 NA 0.655761928 NA 0.666437792 0.666437792 1 2.154385965 2.154385965 1 NA NA 0 NA NA 1 4 NA 0.130947004 1 0.000000232 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 90472758 G A ENSG00000214888 ENST00000399186 r.1186c>u c.? p.? 3'UTR variant 19 0 0 29 10 34.5 12 1 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 0.894070175 0.894070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-16 1 0.058377193 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 90525198 G C - - - - - - 33 0 0 23 5 21.7 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.083267465 1.083267465 1 1.042614236 1.042614236 1 NA NA 1 NA NA 0 4 NA 1 1 9.75E-08 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 90618446 C T - - - - - - 42 0 0 47 7 14.9 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.892810379 0.892810379 1 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-09 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 90622557 C T - - - - - - 48 0 0 50 6 12 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.719041916 0.719041916 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 90625072 T A - - - - - - 49 0 0 37 15 40.5 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.021766467 1.010883234 2 1.719067533 1.719067533 1 NA NA 1 NA NA 0 4 NA 1 1 2.58E-25 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 90670508 T C - - - - - - 48 0 0 43 9 20.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 90677539 A G - - - - - - 42 0 0 50 6 12 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.599041916 0.599041916 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 90750621 C A SNCA CCDS43252.1 r.? - - intronic 45 0 0 32 10 31.2 26 1 3.8 0 0 NA 2 2 100 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.557508982 1.557508982 1 0.345243044 NA 0 4.992015968 2.496007984 2 NA NA 0 NA NA 1 1 5.70E-16 0.000025 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 87410326 C A - - - - - - 52 0 0 42 8 19 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.948483034 0.948483034 1 1.182403509 1.182403509 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-11 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 90906786 A G - - - - - - 46 0 0 25 6 24 24 3 12.5 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.958083832 0.958083832 1 1.346491228 1.346491228 1 NA NA 0 NA NA 1 4 NA 1 1 2.55E-09 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 90907950 C T BACH2 CCDS5026.1 r.? - - intronic 41 0 0 30 15 50 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.438596491 1.219298246 2 NA NA 1 NA NA 1 4 NA 1 1 4.41E-27 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 90928633 A C - - - - - - 41 0 0 43 9 20.9 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 0.484736842 0.484736842 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 90939316 C T - - - - - - 55 0 0 48 7 14.6 46 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.874834331 0.874834331 1 0.463192982 0.463192982 1 NA NA 1 NA NA 1 4 NA 1 1 4.81E-09 1 0.022369545 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 90975714 T C LIPA CCDS7401.1 r.1621a>g c.947A>G p.N316S missense 44 0 0 45 24 53.3 36 8 22.2 160 0 0 110 50 45.5 93 14 15.1 7.08E-13 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.127744511 1.063872255 2 1.947368421 0.973684211 2 1.816367265 0.908183633 2 1.324561404 1.324561404 1 4 3 1 1 2.03E-43 4.15E-84 1.04E-11 6.26E-17 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 91003205 G A - - - - - - 43 0 0 56 7 12.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.46E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 91049069 C G - - - - - - 42 0 0 35 18 51.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.051896208 1.025948104 2 2.271929825 1.135964912 2 NA NA 1 NA NA 1 4 NA 1 1 1.60E-32 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 91140281 C T FAM190A ENST00000509176 r.? - - intronic 46 0 0 36 8 22.2 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.108227545 1.108227545 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.04E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 91142118 T A - - - - - - 63 1 1.6 25 9 36 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 1.921052632 1.921052632 1 NA NA 1 NA NA 1 4 NA 0.27078753 1 3.71E-15 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 91176973 C A FAM190A CCDS47100.1 r.? - - intronic 53 0 0 49 9 18.4 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.918530938 0.918530938 1 0.3361577 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.35E-12 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 91185312 T A - - - - - - 55 0 0 45 8 17.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.066578842 1.066578842 1 2.973052632 1.486526316 2 NA NA 1 NA NA 1 4 NA 1 1 7.14E-11 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 91198165 G T - - - - - - 42 0 0 48 6 12.5 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.624001996 0.624001996 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 91345317 T C - - - - - - 41 0 0 50 20 40 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 2.768385965 1.384192982 2 NA NA 1 NA NA 1 4 NA 1 1 3.90E-33 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 91368802 C A - - - - - - 63 0 0 30 10 33.3 23 6 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 2.289473684 1.144736842 2 NA NA 1 NA NA 1 4 NA 1 1 2.68E-16 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 91383540 A G - - - - - - 67 0 0 34 4 11.8 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.589057884 0.589057884 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 91416484 A C - - - - - - 47 0 0 38 5 13.2 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 2732542 G A KCNQ1 CCDS7736.1 r.? - - intronic 29 0 0 36 15 41.7 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.081670659 1.040835329 2 1.573280702 1.573280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-25 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 91497417 A G - - - - - - 57 0 0 42 10 23.8 49 8 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.1880998 1.1880998 1 1.53104613 1.53104613 1 NA NA 1 NA NA 0 4 NA 1 1 1.24E-14 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 91537301 G A - - - - - - 51 0 0 47 6 12.8 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.638978044 0.638978044 1 0.80779121 0.80779121 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000141 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 91626184 T C - - - - - - 61 0 0 48 6 12.5 42 0 0 115 0 0 391 23 5.9 355 1 0.3 0.971784089 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.624001996 0.624001996 1 0 NA 0 0.294528942 0.294528942 1 0.028336278 NA 0 NA NA 1 1 0.00000016 1.70E-17 1 0.831269472 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 4 91631192 G A FAM190A CCDS47100.1 r.? - - intronic 51 0 0 39 7 17.9 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.893570858 0.893570858 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 91638794 C T - - - - - - 55 0 0 49 17 34.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.732229541 0.86611477 2 1.624613273 1.624613273 1 NA NA 1 NA NA 0 4 NA 1 1 4.26E-27 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 91669776 C G PCDH11X CCDS14461.1 r.? - - intronic 41 0 0 47 17 36.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.44088429 3 1 2 0 1 0.55911571 1 1 NA 1 NA 0.44088429 NA 1.242709894 1.242709894 1 1.710087719 1.710087719 1 NA NA 0 NA NA 1 4 NA 1 1 1.81E-27 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 92952578 A T - - - - - - 51 0 0 42 5 11.9 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.636617782 0.636617782 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 91721035 C T - - - - - - 47 0 0 36 5 13.9 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.69389022 0.69389022 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 94593284 G A PLXNC1 CCDS9049.1 r.? - - intronic 40 0 0 33 7 21.2 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.134142602 1.134142602 1 0.811070175 0.811070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.98E-10 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 91767794 G A - - - - - - 47 0 0 35 12 34.3 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.055261477 1.027630739 2 2.768385965 1.384192982 2 NA NA 1 NA NA 1 4 NA 1 1 1.83E-19 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 91860518 G T - - - - - - 51 0 0 44 7 15.9 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.850606952 0.850606952 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 13424630 C T BTBD10 CCDS7811.1 r.? - - intronic 54 0 0 43 9 20.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.043331337 1.043331337 1 1.328982456 1.328982456 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 91892640 G A - - - - - - 53 0 0 42 9 21.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.068291417 1.068291417 1 1.529963549 1.529963549 1 NA NA 1 NA NA 1 4 NA 1 1 7.51E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 91932169 T C - - - - - - 50 1 2 40 15 37.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.872005988 0.936002994 2 2.828419457 1.233168376 2.293619843 NA NA 0 NA NA 1 4 NA 0.221687443 1 1.09E-24 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 91982439 T G ANKIB1 CCDS47639.1 r.? - - intronic 51 0 0 51 15 29.4 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.761652695 0.880826347 2 0.60322807 0.60322807 1 NA NA 1 NA NA 1 4 NA 1 1 8.22E-23 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 92015185 T A FAM190A CCDS47099.1 r.? - - intronic 44 0 0 36 4 11.1 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.554113772 0.554113772 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92035123 G A ANKIB1 CCDS47639.1 r.? - - downstream 65 0 0 45 16 35.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-26 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 92039989 C A - - - - - - 10 0 0 37 16 43.2 7 1 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.644061297 1.242220296 2.128496294 1.540385965 1.540385965 1 NA NA 1 NA NA 0 4 NA 1 1 1.78E-27 1 0.034479353 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 92060826 A G - - - - - - 48 0 0 34 15 44.1 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.201479042 1.100739521 2 2.817876313 1.408938156 2 NA NA 1 NA NA 0 4 NA 1 1 5.18E-26 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 92074957 A C - - - - - - 59 0 0 39 11 28.2 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.407748503 1.407748503 1 0.80779121 0.80779121 1 NA NA 1 NA NA 0 4 NA 1 1 7.20E-17 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 92113942 C A LRRC69 CCDS47890.1 r.? - - upstream 58 0 0 35 4 11.4 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.56908982 0.56908982 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 99537607 C A ANKS1B ENST00000329257 r.? - - intronic 47 0 0 48 12 25 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.337432314 1.337432314 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 1.44E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 92210991 G T - - - - - - 53 0 0 37 7 18.9 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.943491018 0.943491018 1 0.332163139 0.332163139 1 NA NA 1 NA NA 1 4 NA 1 1 7.05E-10 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 92247931 C T - - - - - - 19 0 0 43 10 23.3 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.930139721 0.930139721 1 2.563719298 0.854573099 3 NA NA 0 NA NA 1 4 NA 1 1 1.61E-14 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 99820232 A G ANKS1B ENST00000329257 r.? - - intronic 50 0 0 37 7 18.9 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.011098829 1.011098829 1 0.351789474 0.351789474 1 NA NA 0 NA NA 0 4 NA 1 1 7.05E-10 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 92270761 C A SLC26A7 CCDS6254.1 r.? - - intronic 46 0 0 33 6 18.2 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.908546906 0.908546906 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92470025 T C CDK6 CCDS5628.1 r.? - - upstream 55 0 0 48 16 33.3 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 4 NA 2 NA 2 NA 1 NA NA NA NA NA NA NA NA 1 2.628350877 1.314175439 2 NA NA 1 NA NA 1 NA NA 1 1 2.96E-25 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 92490879 T C TRIP11 CCDS9899.1 r.? - - intronic 47 0 0 42 14 33.3 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 1.712237643 0.925453229 1.850161184 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 2.83E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 92492196 T A SLCO3A1 CCDS10371.1 r.? - - intronic 46 0 0 50 14 28 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.397764471 1.397764471 1 2.274814225 0.9918009 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 4.84E-21 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 92496374 A C - - - - - - 58 0 0 43 17 39.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.113143056 1.056571528 2 2.022789474 2.022789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.84E-28 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 92515669 C T FAM190A CCDS47099.1 r.? - - intronic 47 0 0 39 7 17.9 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.893570858 0.893570858 1 0.36341373 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.04E-09 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 101140823 A G - - - - - - 52 1 1.9 37 10 27 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.444426899 1.444426899 1 2.355035088 1.177517544 2 NA NA 0 NA NA 0 4 NA 0.229451111 1 3.01E-15 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92564517 G A - - - - - - 60 0 0 65 18 27.7 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.821240459 4 4 2 1 2 0.178759541 1 4 NA 2 NA 0.821240459 NA 2.16427203 0.993350569 2.178759541 0.570912281 0.570912281 1 NA NA 0 NA NA 0 4 NA 1 1 1.52E-26 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 92600595 G A FAT3 CCDS44706.1 r.? - - intronic 28 0 0 37 9 24.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.21305988 1.21305988 1 1.747403811 1.747403811 1 NA NA 1 NA NA 0 4 NA 1 1 2.14E-13 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 92601695 C T SLCO3A1 CCDS10371.1 r.? - - intronic 49 0 0 34 6 17.6 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.87859481 0.87859481 1 1.187734861 1.187734861 1 NA NA 0 NA NA 1 4 NA 1 1 1.86E-08 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 92654590 C T KIAA1107 CCDS44172.1 r.? - - downstream 40 0 0 26 7 26.9 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.342852295 1.342852295 1 0.435561404 0.435561404 1 NA NA 0 NA NA 1 4 NA 1 1 4.73E-11 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 103871130 C A C12orf42 CCDS44963.1 r.? - - intronic 47 0 0 27 6 22.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.187639895 1.187639895 1 1.631912281 1.631912281 1 NA NA 1 NA NA 0 4 NA 1 1 4.23E-09 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 92754225 G A GPC5 CCDS9468.1 r.? - - intronic 50 0 0 43 9 20.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 92798102 G A - - - - - - 29 0 0 38 18 47.4 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.366215569 1.183107784 2 0.381584417 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.16E-31 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 92804979 A G - - - - - - 47 0 0 49 22 44.9 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.69041517 1.345207585 2 0.333929825 0.333929825 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-37 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92819624 G T HEPACAM2 CCDS43616.1 r.? - - intronic 43 0 0 87 25 28.7 52 9 17.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.821240459 4 4 2 1 2 0.178759541 1 4 NA 2 NA 0.821240459 NA 2.242404595 1.029211601 2.178759541 1.86354386 0.93177193 2 NA NA 0 NA NA 0 4 NA 1 1 9.55E-37 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 92864022 T C CCDC132 CCDS43617.1 r.? - - intronic 44 0 0 68 20 29.4 44 10 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.821240459 4 4 2 1 2 0.178759541 1 4 NA 2 NA 0.821240459 NA 2.29709739 1.054314323 2.178759541 2.44522807 1.222614035 2 NA NA 0 NA NA 0 4 NA 1 1 6.23E-30 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 92864833 T C GPC5 CCDS9468.1 r.? - - intronic 62 0 0 46 9 19.6 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 92942897 C T GFI1 CCDS30773.1 r.? - - intronic 62 0 0 34 10 29.4 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.467652695 1.467652695 1 1.047701754 1.047701754 1 NA NA 0 NA NA 1 4 NA 1 1 1.15E-15 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 112461740 T C NAA25 CCDS9159.1 r.? - - downstream 48 0 0 55 28 50.9 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.723012192 1.154937797 2.357713288 1.954385965 0.977192982 2 NA NA 0 NA NA 1 4 NA 1 1 1.25E-49 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 93037560 C A C15orf32 CCDS10373.1 r.? - - intronic 55 0 0 39 6 15.4 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.768770459 0.768770459 1 0.805243973 0.805243973 1 NA NA 1 NA NA 0 4 NA 1 1 4.43E-08 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 93211294 T A - - - - - - 62 0 0 38 18 47.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.892215569 0.946107784 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 93214551 C T GPC5 CCDS9468.1 r.? - - intronic 49 0 0 60 8 13.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.796938124 0.796938124 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.93E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 93226551 T C GPC5 CCDS9468.1 r.? - - intronic 44 0 0 44 7 15.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.952730539 0.952730539 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 93275371 A T GPC5 CCDS9468.1 r.? - - intronic 46 0 0 40 8 20 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 93326764 A C - - - - - - 45 0 0 32 12 37.5 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.44088429 3 1 2 0 1 0.55911571 1 1 NA 1 NA 0.44088429 NA 1.287337597 1.287337597 1 2.257315789 1.128657895 2 NA NA 0 NA NA 1 4 NA 1 1 5.03E-20 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 93327436 G C ENSG00000237766 ENST00000439686 r.? - - upstream 49 0 0 35 14 40 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.996806387 0.998403194 2 1.17411513 1.17411513 1 NA NA 1 NA NA 0 4 NA 1 1 1.28E-23 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 93409780 C G GRID2 CCDS3637.1 r.? - - intronic 59 0 0 42 7 16.7 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.833666667 0.833666667 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 93416425 G A MIR2277 CCDS4069.1 r.? - - intronic 46 0 0 40 9 22.5 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.348203593 1.348203593 1 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 4.64E-13 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 93493332 C T - - - - - - 56 0 0 40 9 22.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.123203593 1.123203593 1 2.436789474 0.812263158 3 NA NA 0 NA NA 1 4 NA 1 1 4.64E-13 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114323347 G T RBM19 CCDS9172.1 r.? - - intronic 48 0 0 33 6 18.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.973650725 0.973650725 1 1.436473684 1.436473684 1 NA NA 0 NA NA 0 4 NA 1 1 1.54E-08 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 93524760 C T GRID2 CCDS3637.1 r.? - - intronic 60 0 0 53 19 35.8 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.787141717 0.893570858 2 1.299204085 1.299204085 1 NA NA 1 NA NA 0 4 NA 1 1 1.93E-30 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 30376431 G T - - - - - - 57 0 0 47 8 17 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.848642715 0.848642715 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 93565567 T C - - - - - - 28 0 0 31 15 48.4 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.44088429 3 1 2 0 1 0.55911571 1 1 NA 1 NA 0.44088429 NA 1.661523725 1.661523725 1 1.954385965 1.954385965 1 NA NA 0 NA NA 1 4 NA 1 1 8.51E-27 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 93579244 T G - - - - - - 46 0 0 58 17 29.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.755660679 0.877830339 2 1.497298246 1.497298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-25 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 93609028 C T - - - - - - 32 0 0 49 9 18.4 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.984350183 0.984350183 1 0.947877193 0.947877193 1 NA NA 0 NA NA 1 4 NA 1 1 3.35E-12 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 93648103 T C - - - - - - 72 0 0 47 10 21.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.276299401 1.276299401 1 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 4.27E-14 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 93663897 A T - - - - - - 57 0 0 29 12 41.4 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.652694611 0.826347305 2 1.052631579 1.052631579 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-20 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 93664027 G A - - - - - - 38 0 0 34 7 20.6 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.028355289 1.028355289 1 0.972878879 0.972878879 1 NA NA 1 NA NA 0 4 NA 1 1 3.73E-10 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 93667092 A C C5orf36 ENST00000513200 r.? - - intronic 42 0 0 47 20 42.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.552598802 1.276299401 2 2.531403509 1.265701754 2 NA NA 1 NA NA 1 4 NA 1 1 8.18E-34 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 93691382 A T - - - - - - 27 0 0 40 9 22.5 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.123203593 1.123203593 1 1.550094649 1.550094649 1 NA NA 1 NA NA 0 4 NA 1 1 4.64E-13 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 93702036 T C GRID2 CCDS3637.1 r.? - - intronic 64 0 0 44 8 18.2 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.908546906 0.908546906 1 0.953961042 0.953961042 1 NA NA 1 NA NA 0 4 NA 1 1 5.90E-11 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 93702481 C T - - - - - - 39 0 0 46 14 30.4 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.517572854 1.517572854 1 1.992984887 0.996492444 2 NA NA 1 NA NA 0 4 NA 1 1 1.26E-21 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 93715059 C T GRID2 CCDS3637.1 r.? - - intronic 35 0 0 37 5 13.5 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.673922156 0.673922156 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 93721419 G T - - - - - - 60 0 0 46 12 26.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.302916168 1.302916168 1 1.44650984 1.44650984 1 NA NA 1 NA NA 0 4 NA 1 1 8.12E-18 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 93740415 C T - - - - - - 50 0 0 38 9 23.7 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.420107784 1.420107784 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.79E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 93807918 G T - - - - - - 52 0 0 29 11 37.9 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.44088429 3 1 2 0 1 0.55911571 1 1 NA 1 NA 0.44088429 NA 1.301069198 1.301069198 1 2.169368421 1.084684211 2 NA NA 0 NA NA 1 4 NA 1 1 1.56E-18 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 93852411 A T - - - - - - 55 0 0 45 13 28.9 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.731692615 0.865846307 2 2.552947368 1.276473684 2 NA NA 1 NA NA 1 4 NA 1 1 7.68E-20 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114750539 C T - - - - - - 47 0 0 36 14 38.9 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.081044681 1.04052234 2 0.322473684 0.322473684 1 NA NA 0 NA NA 1 4 NA 1 1 2.09E-23 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 116576155 C T MED13L CCDS9177.1 r.? - - intronic 41 0 0 51 22 43.1 26 6 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.30573331 0.977953223 2.357713288 2.257315789 1.128657895 2 NA NA 1 NA NA 0 4 NA 1 1 3.24E-37 1 3.30E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 93883047 C T - - - - - - 56 0 0 43 13 30.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.809588822 0.904794411 2 1.885087719 1.885087719 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-20 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 93889321 C G - - - - - - 35 0 0 19 9 47.4 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.366215569 1.183107784 2 2.365404172 2.365404172 1 NA NA 0 NA NA 0 4 NA 1 1 1.72E-16 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 93904324 C T - - - - - - 56 0 0 35 18 51.4 28 10 35.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.051896208 1.025948104 2 3.131578947 1.565789474 2 NA NA 1 NA NA 1 4 NA 1 1 1.60E-32 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 93936432 G A - - - - - - 47 0 0 44 5 11.4 26 0 0 4 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.60946096 0.60946096 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 93996087 G A - - - - - - 36 0 0 56 25 44.6 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.226439122 1.113219561 2 1.747403811 1.747403811 1 NA NA 1 NA NA 0 4 NA 1 1 1.43E-42 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94013230 C A GPC6 CCDS9469.1 r.? - - intronic 49 0 0 45 16 35.6 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-26 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 94034105 G A ANKRD32 CCDS4071.2 r.? - - downstream 47 0 0 57 6 10.5 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.629161677 0.629161677 1 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000456 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 94040105 G T BCAR3 CCDS745.1 r.? - - intronic 35 0 0 39 14 35.9 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.792133733 0.896066866 2 1.424403509 1.424403509 1 NA NA 0 NA NA 1 4 NA 1 1 8.19E-23 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 94117317 G A EPHA7 CCDS5031.1 r.? - - intronic 54 0 0 31 14 45.2 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.804391218 0.902195609 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.49E-24 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94152990 C T GPC6 CCDS9469.1 r.? - - intronic 57 0 0 54 18 33.3 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.940736842 1.470368421 2 NA NA 1 NA NA 1 4 NA 1 1 3.12E-28 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 94209208 C T MCTP1 CCDS47247.1 r.? - - intronic 60 0 0 55 22 40 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.65E-36 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 94221254 G T - - - - - - 52 0 0 33 25 75.8 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 3.025948104 1.512974052 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 3.98E-51 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 94242093 A G CRADD CCDS9048.1 r.? - - intronic 65 0 0 38 20 52.6 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.813957589 1.193511358 2.357713288 2.892491228 1.446245614 2 NA NA 1 NA NA 0 4 NA 1 1 2.94E-36 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 94284138 C A - - - - - - 19 0 0 45 9 20 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.998403194 0.998403194 1 0.654260728 0.654260728 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-12 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94342671 G A GPC6 CCDS9469.1 r.? - - intronic 55 0 0 49 12 24.5 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.468043912 1.468043912 1 2.822245614 1.411122807 2 NA NA 1 NA NA 1 4 NA 1 1 1.90E-17 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 94371715 C A - - - - - - 48 0 0 38 6 15.8 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.844691506 0.844691506 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 94404733 A G KIF11 CCDS7422.1 r.? - - intronic 55 0 0 29 17 58.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.339321357 1.169660679 2 1.684210526 1.684210526 1 NA NA 1 NA NA 1 4 NA 1 1 3.74E-32 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 94485840 G A - - - - - - 43 0 0 35 16 45.7 28 7 25 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.443189989 1.221594994 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 5.66E-28 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 94541930 G C AC011118.2 ENST00000501400 r.? - - intronic 51 0 0 41 16 39 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.946886228 0.973443114 2 2.592446208 1.296223104 2 NA NA 1 NA NA 0 4 NA 1 1 1.40E-26 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 118620503 C A TAOK3 CCDS9188.1 r.? - - intronic 54 0 0 43 5 11.6 35 0 0 49 0 0 117 8 6.8 104 0 0 1 TRUE TRUE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.620568594 0.620568594 1 0 0 1 0.363781589 1.016964148 0.357713288 0 0 1 3 2 1 1 0.00000257 0.000000164 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 9 94606338 C T ROR2 CCDS6691.1 r.? - - intronic 31 0 0 36 9 25 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 3.145403509 1.048467836 3 NA NA 0 NA NA 1 4 NA 1 1 1.63E-13 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94655168 C G GPC6 CCDS9469.1 r.? - - intronic 60 0 0 52 13 25 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 6.47E-19 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 94692354 T A - - - - - - 50 0 0 41 21 51.2 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.043912176 1.021956088 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.17E-37 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94723604 G C GPC6 CCDS9469.1 r.? - - intronic 54 0 0 53 17 32.1 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 1.615789474 1.615789474 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 94740689 A G - - - - - - 48 0 0 43 27 62.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 3.134986028 1.567493014 2 2.234552026 0.974246902 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 1.83E-51 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94778032 G A GPC6 CCDS9469.1 r.? - - intronic 52 0 0 53 5 9.4 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.563249501 0.563249501 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 94787315 C T - - - - - - 24 0 0 32 8 25 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 2.692982456 0.897660819 3 NA NA 0 NA NA 1 4 NA 1 1 3.69E-12 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94807741 C G GPC6 CCDS9469.1 r.? - - intronic 48 0 0 53 21 39.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.372838323 1.186419162 2 1.885087719 1.885087719 1 NA NA 1 NA NA 1 4 NA 1 1 1.30E-34 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 94821489 T A - - - - - - 48 0 0 44 10 22.7 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.133187625 1.133187625 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.08E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 37299958 T A - - - - - - 45 0 0 59 13 22 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.098243513 1.098243513 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.99E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 95004083 C T - - - - - - 45 0 0 32 17 53.1 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.650760479 1.32538024 2 2.096884573 1.048442287 2 NA NA 1 NA NA 0 4 NA 1 1 4.02E-31 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 95033890 T A - - - - - - 54 0 0 41 7 17.1 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.682634731 0.682634731 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.51E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 95047446 G A - - - - - - 52 0 0 40 19 47.5 35 4 11.4 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.539420666 1.269710333 2 1.342 1.342 1 0 NA 0 NA NA 1 4 NA 1 1 2.27E-33 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 95070664 G T - - - - - - 51 0 0 56 11 19.6 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0.258526316 0.258526316 1 NA NA 1 NA NA 1 4 NA 1 1 5.91E-15 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 95085325 T C - - - - - - 62 0 0 31 11 35.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.897882814 0.948941407 2 1.859964912 1.859964912 1 NA NA 0 NA NA 1 4 NA 1 1 3.77E-18 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 121697393 G C CAMKK2 CCDS9216.1 r.? - - intronic 47 0 0 47 28 59.6 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 3.188438637 1.352343668 2.357713288 3.166105263 1.583052632 2 NA NA 1 NA NA 0 4 NA 1 1 2.37E-52 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 95124983 T A CENPP CCDS35063.1 r.? - - intronic 54 0 0 26 7 26.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.073852295 1.073852295 1 2.326736842 1.163368421 2 NA NA 0 NA NA 1 4 NA 1 1 4.73E-11 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 95241313 T C TGDS CCDS9471.1 r.? - - intronic 58 0 0 56 7 12.5 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0.549368421 0.549368421 1 NA NA 1 NA NA 1 4 NA 1 1 1.46E-08 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 95250765 G A - - - - - - 56 0 0 49 12 24.5 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.309806449 1.309806449 1 0.953526316 0.953526316 1 NA NA 0 NA NA 1 4 NA 1 1 1.90E-17 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 122104813 G C MORN3 CCDS31917.1 r.? - - intronic 39 0 0 43 8 18.6 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.995049642 0.995049642 1 0.596087719 0.596087719 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 95273353 G A ELL2 CCDS4080.1 r.? - - intronic 59 0 0 49 14 28.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 2.272877193 1.136438596 2 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 123599721 C T PITPNM2 CCDS9242.1 r.? - - upstream 27 0 0 34 9 26.5 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.417678253 1.417678253 1 1.954385965 1.954385965 1 NA NA 0 NA NA 1 4 NA 1 1 9.15E-14 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 128763700 C T - - - - - - 48 0 0 35 6 17.1 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.366634731 1.366634731 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.24E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 95439814 T C AL139381.2 ENST00000505287 r.? - - intronic 59 0 0 60 16 26.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.599868263 0.799934132 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 1.86E-23 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 95486989 T C BICD2 CCDS35064.1 r.? - - intronic 12 0 0 22 5 22.7 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.906187625 0.906187625 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 7.67E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 95500101 G A - - - - - - 43 0 0 43 9 20.9 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 0.247754386 0.247754386 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 95560324 C A - - - - - - 21 0 0 45 16 35.6 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.178902365 1.023681541 2.128496294 1.464982456 1.464982456 1 NA NA 0 NA NA 0 4 NA 1 1 8.61E-26 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 95568311 T G - - - - - - 59 0 0 58 8 13.8 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.688898204 0.688898204 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.99E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 95610251 G A DICER1 CCDS9931.1 r.? - - intronic 51 0 0 37 7 18.9 30 0 0 101 0 0 239 37 15.5 227 1 0.4 0.897861571 TRUE TRUE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 0.971810554 0.971810554 1 0 0 1 0.796987491 0.796987491 1 0.039087719 0.039087719 1 3 2 1 1 7.05E-10 1.04E-42 1 0.679491664 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 7 95612808 G C DYNC1I1 CCDS5644.1 r.? - - intronic 50 0 0 49 9 18.4 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.35E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 95613837 C T - - - - - - 32 0 0 46 15 32.6 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.627397206 0.813698603 2 1.221079735 1.221079735 1 NA NA 1 NA NA 0 4 NA 1 1 1.35E-23 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 95628133 G T DYNC1I1 CCDS5644.1 r.? - - intronic 48 0 0 52 15 28.8 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.725700599 0.862850299 2 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-22 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 95628551 G C - - - - - - 56 0 0 46 5 10.9 34 0 0 202 1 0.5 138 14 10.1 129 0 0 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.544129741 0.544129741 1 0 0 1 0.504193613 0.504193613 1 0 NA 0 3 NA 1 0.636702583 0.00000361 1.80E-14 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 13 95649444 T C - - - - - - 36 1 2.8 33 12 36.4 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.181093812 1.090546906 2 4.039473684 2.019736842 2 NA NA 1 NA NA 1 4 NA 0.165106833 1 7.86E-20 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 95696313 T A ABCC4 CCDS9474.1 r.? - - intronic 55 0 0 54 16 29.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.773636727 0.886818363 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.69E-24 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 95773800 A G FGD3 CCDS43849.1 r.? - - intronic 27 0 0 27 9 33.3 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 0.366245614 0.366245614 1 NA NA 0 NA NA 1 4 NA 1 1 8.44E-15 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 95820792 G C BMPR1B ENST00000515059 r.? - - intronic 51 0 0 42 8 19 28 0 0 112 0 0 184 32 17.4 183 3 1.6 0.277192583 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.948483034 0.948483034 1 0 NA 0 0.868610778 0.868610778 1 0.145365492 NA 0 NA NA 1 1 3.96E-11 7.18E-39 1 0.064892645 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 5 95827787 A G - - - - - - 54 0 0 55 6 10.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 95832597 C T AC104260.1 ENST00000508732 r.? - - intronic 55 0 0 33 8 24.2 37 9 24.3 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.208067864 1.208067864 1 2.445928569 1.066405393 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 4.85E-12 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 95872663 G T ABCC4 CCDS9474.1 r.? - - intronic 47 0 0 52 16 30.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.33E-24 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 95958772 C G - - - - - - 39 0 0 40 16 40 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.139891703 1.069945851 2 2.609105263 1.304552632 2 NA NA 1 NA NA 1 4 NA 1 1 8.56E-27 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 95986651 G T - - - - - - 44 0 0 38 12 31.6 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.689383012 1.026439445 1.645867197 1.389087719 1.389087719 1 NA NA 0 NA NA 1 4 NA 1 1 5.86E-19 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 96013867 G A - - - - - - 46 0 0 41 9 22 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.176940436 1.176940436 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 5.92E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 129028877 G A TMEM132C CCDS45009.1 r.? - - intronic 17 0 0 45 6 13.3 18 2 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.062938124 1.062938124 1 1.084684211 1.084684211 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000108 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 89372529 G A - - - - - - 55 0 0 58 25 43.1 38 14 36.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.151558882 1.075779441 2 3.47591677 1.737958385 2 NA NA 1 NA NA 0 4 NA 1 1 4.44E-42 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 96057031 G A WNK2 ENST00000349097 r.? - - intronic 16 0 0 33 8 24.2 16 3 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.966067864 0.966067864 1 2.025122807 2.025122807 1 NA NA 0 NA NA 1 4 NA 1 1 4.85E-12 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 96071975 C A NTN4 CCDS9054.1 r.? - - intronic 39 0 0 37 6 16.2 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.86665614 0.86665614 1 0.371333333 0.371333333 1 NA NA 1 NA NA 0 4 NA 1 1 3.18E-08 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96077165 C T - - - - - - 39 0 0 33 6 18.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 96086574 T G CLDN10 CCDS9475.1 r.? - - intronic 41 0 0 42 5 11.9 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.7130499 0.7130499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96107215 T C - - - - - - 50 0 0 40 8 20 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 1.683385965 1.683385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.61E-11 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 96151422 C G - - - - - - 54 0 0 36 10 27.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.109780439 1.109780439 1 1.622807018 1.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 96153065 G C - - - - - - 62 0 0 25 11 44 19 6 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.756487026 0.878243513 2 2.771929825 1.385964912 2 NA NA 1 NA NA 1 4 NA 1 1 2.04E-19 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 30871454 C A KATNAL1 CCDS31956.1 r.? - - intronic 41 0 0 28 8 28.6 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.11E-12 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 96242249 A G UNC5C CCDS3643.1 r.? - - intronic 41 0 0 41 5 12.2 26 0 0 81 1 1.2 158 8 5.1 112 0 0 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.609025948 0.609025948 1 0 NA 0 0.254592814 0.254592814 1 0 NA 0 NA NA 1 0.333700419 0.00000202 0.00000162 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 1 96252868 T C - - - - - - 46 0 0 47 9 19.1 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.95347505 0.95347505 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.24E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96252869 C A - - - - - - 46 1 2.2 45 9 20 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0 0 1 NA NA 0 NA NA 1 3 NA 0.205924651 1 1.47E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 96281890 C A - - - - - - 64 0 0 54 17 31.5 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.684036863 1.023191219 1.645867197 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 3.02E-26 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 96285983 C A DIAPH2 CCDS14467.1 r.? - - intronic 46 0 0 31 13 41.9 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 1.253654691 1.253654691 1 0.390877193 0.390877193 1 NA NA 0 NA NA 1 4 NA 1 1 2.32E-22 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 96328461 T C - - - - - - 54 0 0 44 12 27.3 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.459498615 1.459498615 1 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 4.44E-18 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 96391632 G C HAL CCDS9058.1 r.? - - upstream 48 0 0 42 10 23.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.273235563 1.273235563 1 1.358298246 1.358298246 1 NA NA 0 NA NA 0 4 NA 1 1 1.24E-14 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 96421980 G A - - - - - - 40 0 0 41 13 31.7 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.899469062 0.949734531 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.89E-20 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 96429537 A T - - - - - - 18 0 0 35 10 28.6 19 6 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.750466507 0.875233253 2 3.403929825 1.701964912 2 NA NA 0 NA NA 0 4 NA 1 1 1.60E-15 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 96429846 T G - - - - - - 49 0 0 46 15 32.6 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.742844499 1.058921706 1.645867197 2.177807018 2.177807018 1 NA NA 0 NA NA 1 4 NA 1 1 1.35E-23 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 96506752 G A - - - - - - 22 0 0 58 6 10.3 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.514177645 0.514177645 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000506 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 96516759 G A - - - - - - 60 0 0 33 9 27.3 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-14 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 96521462 A G RIOK2 CCDS4089.1 r.? - - upstream 63 0 0 57 18 31.6 41 12 29.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 3.156175439 1.578087719 2 NA NA 1 NA NA 1 4 NA 1 1 9.84E-28 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 96521483 G T RIOK2 CCDS4089.1 r.? - - upstream 55 0 0 62 22 35.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.127165669 1.063582834 2 3.296210526 1.648105263 2 NA NA 1 NA NA 1 4 NA 1 1 6.75E-35 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96536631 C T - - - - - - 51 0 0 49 8 16.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.813698603 0.813698603 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.47E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96570456 A C - - - - - - 54 0 0 51 5 9.8 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.489217565 0.489217565 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 96577928 G T - - - - - - 33 0 0 49 11 22.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.118211577 1.118211577 1 0.651734394 0.651734394 1 NA NA 1 NA NA 0 4 NA 1 1 1.19E-15 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 96615992 G C - - - - - - 56 0 0 50 4 8 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.399361277 0.399361277 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000119787 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 34615518 C A - - - - - - 44 0 0 40 6 15 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.598802395 0.598802395 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 38260893 T C TRPC4 CCDS45037.1 r.? - - intronic 56 0 0 33 10 30.3 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.209580838 1.209580838 1 0.368421053 0.368421053 1 NA NA 1 NA NA 1 4 NA 1 1 8.14E-16 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 96674093 A C UGGT2 CCDS9480.1 r.? - - intronic 46 0 0 53 27 50.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 3.049936128 1.524968064 2 1.23877193 1.23877193 1 NA NA 1 NA NA 1 4 NA 1 1 6.40E-48 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 96691420 G T - - - - - - 47 0 0 38 9 23.7 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.946107784 0.946107784 1 0.355473684 0.355473684 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 96701912 A T - - - - - - 43 0 0 30 7 23.3 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.163139721 1.163139721 1 1.024157895 1.024157895 1 NA NA 0 NA NA 1 4 NA 1 1 1.44E-10 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 41940918 A G NAA16 CCDS9379.1 r.? - - intronic 63 0 0 41 20 48.8 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.948103792 0.974051896 2 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 1 1 2.32E-35 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 96725078 G C - - - - - - 28 0 0 23 6 26.1 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.041916168 1.041916168 1 0.387789474 0.387789474 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-09 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 96743757 A C - - - - - - 56 0 0 32 10 31.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.245508982 1.245508982 1 2.272877193 1.136438596 2 NA NA 0 NA NA 1 4 NA 1 1 5.70E-16 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 96754017 A G - - - - - - 64 0 0 66 14 21.2 47 9 19.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.270307385 1.270307385 1 2.057438596 1.028719298 2 NA NA 1 NA NA 1 4 NA 1 1 3.71E-19 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 96770831 C A - - - - - - 45 0 0 40 13 32.5 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.62240519 0.811202595 2 0.854022266 0.854022266 1 NA NA 1 NA NA 0 4 NA 1 1 1.30E-20 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 96796012 G A CYP2C8 CCDS7438.1 r.? - - downstream 43 0 0 39 21 53.8 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.147704591 1.073852295 2 1.526315789 1.526315789 1 NA NA 1 NA NA 1 4 NA 1 1 2.73E-38 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 96796013 C A CYP2C8 CCDS7438.1 r.? - - downstream 44 0 0 37 19 51.4 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.051896208 1.025948104 2 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.09E-34 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 96817768 G A - - - - - - 51 0 0 39 14 35.9 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.792133733 0.896066866 2 0.645059371 0.645059371 1 NA NA 1 NA NA 0 4 NA 1 1 8.19E-23 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 96831876 G A - - - - - - 40 0 0 49 11 22.4 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.118211577 1.118211577 1 1.127150525 1.127150525 1 NA NA 1 NA NA 0 4 NA 1 1 1.19E-15 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 96857652 G A DIAPH2 CCDS14467.1 r.6989g>a c.? p.? 3'UTR variant 47 0 0 38 9 23.7 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.709107784 0.709107784 1 0.57654386 0.57654386 1 NA NA 0 NA NA 1 4 NA 1 1 2.79E-13 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 96887719 A G - - - - - - 62 0 0 53 14 26.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.317892216 1.317892216 1 1.775740089 1.775740089 1 NA NA 1 NA NA 0 4 NA 1 1 1.22E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 96890609 G A - - - - - - 15 0 0 36 9 25 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.248003992 1.248003992 1 0.805243973 0.805243973 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 96921594 G T AK7 CCDS9945.1 r.? - - intronic 38 0 0 40 18 45 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 2.313834653 1.156917326 2 2.345263158 1.172631579 2 NA NA 0 NA NA 1 4 NA 1 1 3.90E-31 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 96929244 C T - - - - - - 41 0 0 39 12 30.8 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.537540918 1.537540918 1 0.590547311 0.590547311 1 NA NA 1 NA NA 0 4 NA 1 1 8.43E-19 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 43765038 A T - - - - - - 65 0 0 43 9 20.9 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 1.163368421 1.163368421 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 96970709 T C - - - - - - 34 0 0 42 7 16.7 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 1.81E-09 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 97001583 C A - - - - - - 38 0 0 57 12 21.1 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.264315369 1.264315369 1 2.628350877 1.314175439 2 NA NA 1 NA NA 1 4 NA 1 1 1.40E-16 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 97021888 C G - - - - - - 57 0 0 44 8 18.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.908546906 0.908546906 1 0.779612447 0.779612447 1 NA NA 1 NA NA 0 4 NA 1 1 5.90E-11 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 97043274 C T - - - - - - 26 0 0 25 13 52 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 2.673764487 0.938109922 2.850161184 3.371315789 1.12377193 3 NA NA 1 NA NA 1 4 NA 1 1 6.00E-24 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 97043586 A C - - - - - - 52 0 0 47 11 23.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.168131737 1.168131737 1 1.812877193 1.812877193 1 NA NA 0 NA NA 1 4 NA 1 1 7.21E-16 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 97044188 T C - - - - - - 52 0 0 36 13 36.1 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.802117764 0.901058882 2 1.157538212 1.157538212 1 NA NA 1 NA NA 1 4 NA 1 1 2.53E-21 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97118988 C G - - - - - - 59 0 0 52 11 21.2 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.058307385 1.058307385 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.44E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 97134062 C A - - - - - - 39 0 0 45 15 33.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.996341317 0.996341317 1 2.091192982 2.091192982 1 NA NA 0 NA NA 1 4 NA 1 1 9.14E-24 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 97134379 C G - - - - - - 47 0 0 38 12 31.6 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.945477046 0.945477046 1 3.556982456 1.778491228 2 NA NA 0 NA NA 1 4 NA 1 1 5.86E-19 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 97134719 C T - - - - - - 40 0 0 40 10 25 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.748003992 0.748003992 1 1.446245614 1.446245614 1 NA NA 0 NA NA 1 4 NA 1 1 7.22E-15 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 97135156 C G - - - - - - 51 0 0 38 11 28.9 18 3 16.7 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.864692615 0.864692615 1 1.631912281 1.631912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 97135845 C G - - - - - - 51 0 0 27 8 29.6 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.885636727 0.885636727 1 0.527684211 0.527684211 1 NA NA 0 NA NA 1 4 NA 1 1 7.97E-13 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 97136306 C G - - - - - - 45 0 0 46 17 37 31 6 19.4 126 0 0 197 37 18.8 187 29 15.5 1.89E-25 TRUE TRUE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 1.107045908 1.107045908 1 1.895754386 1.895754386 1 0.562499002 0.562499002 1 1.514649123 0.757324561 2 4 3 1 1 1.16E-27 5.14E-46 1.03E-08 7.58E-34 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 97136354 C T - - - - - - 49 0 0 52 15 28.8 25 6 24 121 0 0 187 21 11.2 146 21 14.4 3.69E-18 TRUE TRUE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.861700599 0.861700599 1 2.345263158 1.172631579 2 0.335105788 0.335105788 1 1.407157895 1.407157895 1 4 1 1 1 1.15E-22 6.72E-22 2.55E-09 3.20E-24 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 97136370 C T - - - - - - 45 0 0 50 12 24 26 4 15.4 107 0 0 169 18 10.7 130 16 12.3 4.14E-13 TRUE TRUE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.718083832 0.718083832 1 1.504877193 1.504877193 1 0.320145709 0.320145709 1 1.201947368 1.201947368 1 4 1 1 1 2.49E-17 1.44E-18 0.00000856 1.08E-17 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 97136372 C T - - - - - - 45 0 0 51 11 21.6 25 4 16 106 0 0 166 18 10.8 129 15 11.6 5.12E-12 TRUE TRUE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.646275449 0.646275449 1 1.563508772 1.563508772 1 0.323137725 0.323137725 1 1.13354386 1.13354386 1 4 1 1 1 1.94E-15 1.04E-18 0.00000727 2.67E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 4 97156645 A T - - - - - - 47 0 0 38 4 10.5 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.524161677 0.524161677 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 109014616 C A - - - - - - 46 0 0 69 21 30.4 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 2.125572854 1.062786427 2 3.065813408 1.021937803 3 NA NA 1 NA NA 0 4 NA 1 1 1.02E-31 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 97164062 C T EPHA6 CCDS46876.1 r.? - - intronic 42 0 0 50 12 24 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.283075705 1.283075705 1 0.671 0.671 1 NA NA 0 NA NA 1 4 NA 1 1 2.49E-17 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 97182460 G T - - - - - - 58 0 0 44 10 22.7 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.133187625 1.133187625 1 0.624064079 0.624064079 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-14 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 61759192 G A - - - - - - 63 0 0 46 20 43.5 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.606526946 1.303263473 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.72E-34 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 97204439 T A HS6ST3 CCDS9481.1 r.? - - intronic 44 0 0 52 19 36.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.187085828 1.093542914 2 2.994596491 1.497298246 2 NA NA 1 NA NA 1 4 NA 1 1 1.24E-30 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 63011121 A T - - - - - - 55 0 0 67 14 20.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 4.66E-19 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97240073 G A - - - - - - 40 0 0 27 6 22.2 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.108227545 1.108227545 1 1.889085201 1.889085201 1 NA NA 1 NA NA 0 4 NA 1 1 4.23E-09 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97251531 G A - - - - - - 58 0 0 44 21 47.7 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.381191617 1.190595808 2 1.889085201 0.944542601 2 NA NA 1 NA NA 0 4 NA 1 1 8.60E-37 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 65833804 G T - - - - - - 60 0 0 46 12 26.1 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.563916168 1.563916168 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 8.12E-18 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 97355162 C T FBP2 CCDS6711.1 r.? - - intronic 42 0 0 35 7 20 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 2.391368421 1.195684211 2 NA NA 0 NA NA 1 4 NA 1 1 4.65E-10 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 97388514 A T - - - - - - 45 0 0 47 20 42.6 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.552598802 1.276299401 2 3.08077193 1.540385965 2 NA NA 1 NA NA 1 4 NA 1 1 8.18E-34 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 97389643 G A LMAN2L CCDS2023.1 r.? - - intronic 29 0 0 56 21 37.5 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.295192098 1.07831623 2.128496294 3.016140351 1.508070175 2 NA NA 1 NA NA 1 4 NA 1 1 5.43E-34 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 97401240 C T LMAN2L CCDS2023.1 r.? - - intronic 34 0 0 33 9 27.3 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.670899847 1.670899847 1 2.391368421 1.195684211 2 NA NA 1 NA NA 1 4 NA 1 1 6.76E-14 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97432890 C T - - - - - - 29 0 0 41 15 36.6 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.827077844 0.913538922 2 0.311699058 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.71E-24 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 116080616 G A - - - - - - 30 0 0 64 8 12.5 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.874001996 0.874001996 1 0.355634355 0.355634355 1 NA NA 1 NA NA 1 4 NA 1 1 1.35E-09 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 97498384 C A - - - - - - 59 0 0 50 19 38 33 10 30.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.896966068 0.948483034 2 3.049861549 1.329715366 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 5.00E-31 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 97548293 T A - - - - - - 37 0 0 48 10 20.8 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.038339321 1.038339321 1 1.817068651 1.817068651 1 NA NA 1 NA NA 0 4 NA 1 1 5.37E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 97630496 C G ENTPD1 CCDS7444.1 r.? - - downstream 52 0 0 34 15 44.1 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.760479042 0.880239521 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-26 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 97650447 G T - - - - - - 43 0 0 40 16 40 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.996806387 0.998403194 2 2.878747205 1.255110874 2.293619843 NA NA 0 NA NA 1 4 NA 1 1 8.56E-27 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97661216 C G - - - - - - 40 0 0 54 7 13 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.648962076 0.648962076 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 97680709 C T MINA CCDS43114.1 r.? - - intronic 66 0 0 38 11 28.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.545036995 1.545036995 1 2.719315789 0.906438596 3 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 97698588 T A - - - - - - 55 0 0 45 6 13.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.711513991 0.711513991 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 97698975 C T - - - - - - 50 0 0 53 8 15.1 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.807809118 0.807809118 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 2.83E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 97708088 A T - - - - - - 40 0 0 43 12 27.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.671772455 0.835886228 2 2.359052632 1.179526316 2 NA NA 1 NA NA 1 4 NA 1 1 3.24E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 97751973 G T - - - - - - 58 0 0 35 13 37.1 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.984749554 0.992374777 2 2.071649123 1.035824561 2 NA NA 0 NA NA 0 4 NA 1 1 1.63E-21 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 97766868 C A MIR24-1 CCDS6713.1 r.? - - intronic 17 0 0 11 3 27.3 1 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.00002 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 97795469 G C - - - - - - 52 0 0 30 12 40 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.996806387 0.998403194 2 2.503037892 1.251518946 2 NA NA 1 NA NA 0 4 NA 1 1 1.94E-20 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 73159544 G T - - - - - - 51 0 0 53 13 24.5 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.468043912 1.468043912 1 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 8.53E-19 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 97861122 G T - - - - - - 60 0 0 35 10 28.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.60E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 73802419 G A - - - - - - 43 0 0 56 12 21.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.282291417 1.282291417 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.11E-16 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 74420741 G T KLF12 CCDS9449.1 r.? - - intronic 36 0 0 56 18 32.1 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 1.454210526 1.454210526 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-28 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 97952713 G A - - - - - - 32 0 0 46 6 13 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.795666594 0.795666594 1 0.700175439 0.700175439 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000123 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 97954618 A G MIR135A2 ENST00000384854 r.? - - upstream 48 0 0 53 9 17 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.909453974 0.909453974 1 0.840385965 0.840385965 1 NA NA 0 NA NA 1 4 NA 1 1 7.10E-12 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 97957207 C T ENSG00000104324 CCDS6273.1 r.? - - intronic 51 0 0 45 18 40 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.996806387 0.998403194 2 3.559917075 1.779958537 2 NA NA 1 NA NA 0 4 NA 1 1 5.76E-30 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 97964421 C T BAIAP2L1 CCDS34687.1 r.? - - intronic 22 0 0 34 11 32.4 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.941413174 0.970706587 2 2.391368421 1.195684211 2 NA NA 1 NA NA 1 4 NA 1 1 1.26E-17 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 98093985 C A ENSG00000104324 CCDS6273.1 r.? - - intronic 47 0 0 27 6 22.2 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.108227545 1.108227545 1 0.460253131 0.460253131 1 NA NA 1 NA NA 0 4 NA 1 1 4.23E-09 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 98160841 C T - - - - - - 45 0 0 35 5 14.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.570858283 0.570858283 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 98179725 T A DPYD CCDS30777.1 r.? - - intronic 48 0 0 32 15 46.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.341255489 1.170627745 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 1.59E-26 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 98198581 T C - - - - - - 39 0 0 44 12 27.3 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 3.447017544 1.149005848 3 NA NA 0 NA NA 1 4 NA 1 1 4.44E-18 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 98284247 C T - - - - - - 57 0 0 39 11 28.2 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.407748503 1.407748503 1 1.45365492 1.45365492 1 NA NA 1 NA NA 0 4 NA 1 1 7.20E-17 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 74423242 G T KLF12 CCDS9449.1 r.? - - intronic 41 0 0 45 17 37.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.264982036 1.132491018 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 7.37E-28 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 77159996 G T - - - - - - 46 0 0 50 22 44 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.636487026 1.318243513 2 2.876105263 1.438052632 2 NA NA 1 NA NA 1 4 NA 1 1 1.85E-37 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 98312649 C G - - - - - - 35 0 0 19 6 31.6 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.945477046 0.945477046 1 2.061877193 2.061877193 1 NA NA 0 NA NA 1 4 NA 1 1 4.01E-10 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 98403955 G T AC027708.1 ENST00000503768 r.? - - intronic 45 0 0 46 19 41.3 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.061702595 1.030851297 2 0.624064079 0.624064079 1 NA NA 0 NA NA 0 4 NA 1 1 6.97E-32 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 98469724 C T - - - - - - 47 0 0 41 19 46.3 15 5 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.848303393 0.924151697 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 4.20E-33 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 98530022 A G - - - - - - 57 0 0 31 9 29 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.157684631 1.157684631 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.57E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 98563019 C A DCBLD2 CCDS46878.1 r.? - - intronic 44 0 0 38 16 42.1 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.250728633 1.125364316 2 1.412631579 1.412631579 1 NA NA 0 NA NA 1 4 NA 1 1 3.06E-27 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 98569911 A G - - - - - - 50 0 0 27 5 18.5 23 2 8.7 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.923522954 0.923522954 1 0.821752063 0.821752063 1 4.992015968 4.992015968 1 NA NA 0 4 NA 1 1 0.00000023 0.005 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 98616994 A T C4orf37 CCDS3645.1 r.? - - intronic 54 0 0 41 8 19.5 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.973443114 0.973443114 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.22E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 98626478 C T - - - - - - 33 0 0 43 8 18.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.92851497 0.92851497 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.85E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 78202070 T A SCEL CCDS9458.1 r.? - - intronic 57 0 0 43 14 32.6 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 98672783 C T - - - - - - 38 0 0 32 12 37.5 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 0.798245614 0.798245614 1 NA NA 1 NA NA 1 4 NA 1 1 5.03E-20 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 98808251 G A SLIT1 CCDS7453.1 r.? - - intronic 16 0 0 29 16 55.2 11 1 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.203592814 1.101796407 2 0.798245614 0.798245614 1 NA NA 1 NA NA 1 4 NA 1 1 9.74E-30 1 0.05364542 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 98895399 A T - - - - - - 41 0 0 41 12 29.3 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.462660679 1.462660679 1 0.674391828 0.674391828 1 NA NA 1 NA NA 1 4 NA 1 1 1.69E-18 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 99070742 T G - - - - - - 51 0 0 33 13 39.4 30 5 16.7 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.966854291 0.983427146 2 1.965912281 1.965912281 1 0 NA 0 NA NA 1 4 NA 1 1 6.37E-22 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 99073626 C A INPP4A CCDS46369.1 r.? - - intronic 47 0 0 52 19 36.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.233986976 1.04956113 2.128496294 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-30 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 99098180 C T C8orf47 CCDS34929.1 r.? - - intronic 51 0 0 51 11 21.6 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.078275449 1.078275449 1 0.939292104 0.939292104 1 NA NA 1 NA NA 0 4 NA 1 1 1.94E-15 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 99103021 A T - - - - - - 41 0 0 33 9 27.3 32 0 0 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 6.76E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 80973354 C G - - - - - - 23 0 0 56 9 16.1 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.125714571 1.125714571 1 0.341385965 0.341385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-11 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 99147428 A G - - - - - - 46 0 0 27 13 48.1 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 1.439159681 1.439159681 1 1.807807018 1.807807018 1 NA NA 0 NA NA 1 4 NA 1 1 2.29E-23 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 99169060 A T - - - - - - 47 0 0 51 9 17.6 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.940922184 0.940922184 1 0.953526316 0.953526316 1 NA NA 0 NA NA 1 4 NA 1 1 4.92E-12 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 99205916 G A - - - - - - 45 0 0 24 12 50 37 16 43.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 5.306384543 3 5 0 0 0.850161184 0.693615457 3 5 1 1 0.149838816 0.306384543 2.570927392 0.902028772 2.850161184 5.217831807 1.043566361 5 NA NA 0 NA NA 0 4 NA 1 1 6.25E-22 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 99221504 C T MMS19 CCDS7464.1 r.? - - intronic 53 0 0 25 14 56 40 11 27.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.235528942 1.117764471 2 2.412280702 1.206140351 2 NA NA 1 NA NA 1 4 NA 1 1 2.58E-26 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 84320606 T C - - - - - - 53 0 0 62 33 53.2 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 3.719752495 1.239917498 3 2.942982456 0.980994152 3 NA NA 1 NA NA 1 4 NA 1 1 4.14E-59 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 99301758 G A - - - - - - 55 0 0 46 7 15.2 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.812614613 0.812614613 1 0.977070175 0.977070175 1 NA NA 0 NA NA 1 4 NA 1 1 3.53E-09 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 99313213 G T - - - - - - 32 0 0 39 19 48.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.431111776 1.215555888 2 1.615167847 1.615167847 1 NA NA 1 NA NA 0 4 NA 1 1 1.20E-33 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 99320655 T G - - - - - - 52 0 0 51 17 33.3 23 0 0 2 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.662341317 0.831170659 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.59E-27 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 91697092 G A - - - - - - 52 0 0 41 11 26.8 48 8 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.605860279 1.605860279 1 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.34E-16 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 99475529 T C - - - - - - 38 0 0 31 14 45.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.804391218 0.902195609 2 2.131578947 1.065789474 2 NA NA 1 NA NA 1 4 NA 1 1 1.49E-24 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 99478779 T C ANKS1B ENST00000329257 r.2549a>g c.2549A>G p.Q850R missense 63 0 0 47 7 14.9 30 3 10 128 0 0 375 108 28.8 190 26 13.7 1.50E-21 TRUE TRUE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.797109659 0.797109659 1 0.977192982 0.977192982 1 1.540722026 1.134791888 1.357713288 1.338754386 1.338754386 1 4 3 1 1 4.12E-09 2.21E-153 0.000458697 4.93E-29 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 13 92659131 A T GPC5 CCDS9468.1 r.? - - intronic 43 0 0 43 5 11.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.695073852 0.695073852 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 94908721 C A GPC6 CCDS9469.1 r.? - - intronic 58 0 0 55 14 25.5 46 13 28.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 3.04845614 1.52422807 2 NA NA 1 NA NA 1 4 NA 1 1 2.19E-20 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 99602208 G T DOCK9 CCDS45062.1 r.? - - intronic 54 0 0 42 13 31 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 99715149 C T ANKS1B ENST00000329257 r.? - - intronic 15 0 0 35 16 45.7 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.44482627 1.036948081 2.357713288 0.781754386 0.781754386 1 NA NA 1 NA NA 0 4 NA 1 1 5.66E-28 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 99723592 C T - - - - - - 29 0 0 46 8 17.4 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.868610778 0.868610778 1 0.75408349 0.75408349 1 NA NA 1 NA NA 0 4 NA 1 1 8.61E-11 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 99592659 G T DOCK9 CCDS45062.1 r.? - - intronic 47 0 0 48 6 12.5 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000016 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 99741510 G A CNTN5 ENST00000279463 r.? - - intronic 62 0 0 34 9 26.5 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.322884232 1.322884232 1 2.418029058 1.209014529 2 NA NA 1 NA NA 0 4 NA 1 1 9.15E-14 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 99753348 G A C7orf43 CCDS5687.1 r.1527c>u c.1341C>T p.G447G silent 11 0 0 24 11 45.8 17 3 17.6 185 0 0 75 25 33.3 63 2 3.2 0.131245475 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.744343313 1.372171657 2 1.895859649 1.895859649 1 1.995341317 0.997670659 2 0.344701754 0.344701754 1 4 3 1 1 1.15E-19 1.23E-38 0.0000807 0.03993132 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 9 99776663 G A HIATL2 ENST00000375223 r.? - - upstream 12 0 0 40 6 15 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.598802395 0.598802395 1 2.563719298 0.854573099 3 NA NA 0 NA NA 1 4 NA 1 1 5.18E-08 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 100204190 T C TM9SF2 CCDS9493.1 r.? - - intronic 41 0 0 45 5 11.1 30 0 0 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 99873937 A T CNTN5 ENST00000279463 r.? - - intronic 46 0 0 57 7 12.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.614017964 0.614017964 1 1.114560269 1.114560269 1 NA NA 1 NA NA 0 4 NA 1 1 1.66E-08 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 99945015 A T CNTN5 ENST00000279463 r.1526a>u c.1521A>T p.R507S missense 40 0 0 42 10 23.8 27 1 3.7 143 0 0 127 13 10.2 136 23 16.9 2.14E-21 FALSE TRUE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.1880998 1.1880998 1 0.349480762 NA 0 0.509185629 0.509185629 1 1.596276995 0.798138498 2 NA 3 1 1 1.24E-14 1.37E-13 0.126579904 4.40E-28 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 2 100010281 C A EIF5B CCDS42721.1 r.? - - intronic 26 0 0 49 20 40.8 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.497169003 1.173208058 2.128496294 3.037684211 1.518842105 2 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 100072878 A G CNTN5 ENST00000279463 r.? - - intronic 61 0 0 47 17 36.2 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.80710978 0.90355489 2 3.060318026 1.530159013 2 NA NA 1 NA NA 0 4 NA 1 1 1.81E-27 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 100106442 T C KIAA1529 CCDS35077.1 r.? - - intronic 44 0 0 32 12 37.5 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 0.764807018 0.764807018 1 NA NA 0 NA NA 1 4 NA 1 1 5.03E-20 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 100229164 C A - - - - - - 16 0 0 40 12 30 20 4 20 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.79760479 0.898802395 2 2.154385965 2.154385965 1 5.992015968 5.992015968 1 NA NA 1 4 NA 1 1 1.20E-18 0.005 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 100163772 C T - - - - - - 36 0 0 35 15 42.9 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.71257485 1.71257485 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 9.02E-26 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 100173426 C T - - - - - - 58 0 0 47 8 17 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.848642715 0.848642715 1 1.362801488 1.362801488 1 NA NA 1 NA NA 0 4 NA 1 1 1.03E-10 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 111054943 C T COL4A2 CCDS41907.1 r.? - - intronic 25 0 0 58 18 31 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 1.42E-27 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 100205232 T A CNTN5 ENST00000279463 r.? - - intronic 61 0 0 39 18 46.2 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.306311377 1.153155689 2 2.361356502 1.180678251 2 NA NA 1 NA NA 0 4 NA 1 1 2.15E-31 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 112924466 C A AL162499.3 ENST00000503344 r.? - - intronic 49 0 0 42 15 35.7 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.139149701 1.06957485 2 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.65E-24 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 100242477 A G ANKS1B ENST00000329257 r.? - - intronic 44 0 0 36 7 19.4 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.037847476 1.037847476 1 1.270350877 1.270350877 1 NA NA 1 NA NA 0 4 NA 1 1 5.74E-10 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 100264993 C T AFF3 CCDS42723.1 r.? - - intronic 55 0 0 58 18 31 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.897358801 0.948679401 2 1.314175439 1.314175439 1 NA NA 1 NA NA 0 4 NA 1 1 1.42E-27 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 24694571 A T NEDD8 CCDS9621.1 r.? - - intronic 48 0 0 30 17 56.7 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.263473054 1.131736527 2 1.98245614 0.99122807 2 NA NA 1 NA NA 1 4 NA 1 1 8.59E-32 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 100270864 T C - - - - - - 49 0 0 37 14 37.8 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.886982036 0.943491018 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 3.35E-23 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 100403052 T C EPHB4 CCDS5706.1 r.? - - intronic 16 0 0 38 5 13.2 16 0 0 0 0 NA 2 0 0 2 0 0 1 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0 0 1 0 0 1 0 0 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 100420856 G A - - - - - - 27 0 0 44 7 15.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.793730539 0.793730539 1 1.35377193 1.35377193 1 NA NA 0 NA NA 1 4 NA 1 1 2.55E-09 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 100443171 G A - - - - - - 58 0 0 44 24 54.5 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 2.720648703 1.360324351 2 1.577386143 1.577386143 1 NA NA 1 NA NA 0 4 NA 1 1 9.53E-44 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 27476866 G T - - - - - - 68 0 0 36 7 19.4 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 0.263157895 0.263157895 1 NA NA 1 NA NA 1 4 NA 1 1 5.74E-10 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 27562355 G A - - - - - - 61 0 0 32 9 28.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.121756487 1.121756487 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.94E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 28352742 G T - - - - - - 41 0 0 34 14 41.2 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.644710579 0.822355289 2 0.543859649 0.543859649 1 NA NA 1 NA NA 1 4 NA 1 1 7.74E-24 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 100567170 C T ENSG00000165895 CCDS44715.1 r.? - - intronic 38 0 0 54 8 14.8 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.738818363 0.738818363 1 0.28336278 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.31E-10 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 100608917 C A - - - - - - 35 0 0 31 17 54.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.18762475 1.093812375 2 1.210526316 1.210526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.89E-31 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 100612340 A G FOXE1 CCDS35078.1 r.? - - upstream 48 0 0 33 5 15.2 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.606786427 0.606786427 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 100614223 A G ADAMTS17 CCDS10383.1 r.? - - intronic 54 0 0 40 8 20 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 3.293619843 3 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.198403194 1.198403194 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 100636751 C A AFF3 CCDS42723.1 r.? - - intronic 34 0 0 52 20 38.5 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.356397221 1.107071329 2.128496294 3.037684211 1.518842105 2 NA NA 0 NA NA 1 4 NA 1 1 1.03E-32 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 100684376 C G AFF3 CCDS42723.1 r.? - - intronic 59 0 0 55 20 36.4 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.227866463 1.04668562 2.128496294 3.231578947 1.615789474 2 NA NA 1 NA NA 0 4 NA 1 1 4.08E-32 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 100694798 A T MUC17 CCDS34711.1 r.? - - intronic 14 0 0 44 4 9.1 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545273453 0.545273453 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 100726577 T C - - - - - - 42 0 0 37 6 16.2 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.808706587 0.808706587 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 3.18E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 100747702 G C DAPP1 ENST00000296414 r.? - - intronic 50 0 0 50 9 18 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.898562874 0.898562874 1 1.944263456 1.944263456 1 NA NA 1 NA NA 0 4 NA 1 1 4.07E-12 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 100796201 T G - - - - - - 54 0 0 33 10 30.3 25 0 0 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.209580838 1.209580838 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 8.14E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 100865064 G T CDC14A CCDS769.1 r.? - - intronic 58 0 0 37 6 16.2 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.808706587 0.808706587 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 3.18E-08 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 100890918 A T SIM1 CCDS5045.1 r.? - - intronic 54 0 0 27 14 51.9 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.071856287 1.035928144 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-25 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 100897959 T G PCCA CCDS9496.2 r.? - - intronic 56 0 0 43 9 20.9 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.252331337 1.252331337 1 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 9.45E-13 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 121258511 C T - - - - - - 52 0 0 48 15 31.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 2.86E-23 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 100957496 G T CDC14A CCDS769.1 r.? - - intronic 13 0 0 31 7 22.6 14 1 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.128195609 1.128195609 1 0.835807018 0.835807018 1 NA NA 0 NA NA 1 4 NA 1 1 1.85E-10 1 0.067769881 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 100964687 G A - - - - - - 43 0 0 41 10 24.4 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.46673429 3 1 2 1 1 0.53326571 1 2 NA 1 NA 0.46673429 NA 1.087935063 1.087935063 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 9.51E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 101062898 C G EMID2 ENST00000397927 r.? - - intronic 14 0 0 54 17 31.5 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.88748503 0.943742515 2 2.337508772 1.168754386 2 NA NA 1 NA NA 1 4 NA 1 1 3.02E-26 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 101095295 G T RGS22 CCDS43758.1 r.? - - intronic 47 0 0 31 8 25.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.28794012 1.28794012 1 1.615582419 1.615582419 1 NA NA 1 NA NA 0 4 NA 1 1 2.78E-12 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 101103460 T A - - - - - - 49 0 0 54 4 7.4 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.395879965 1.106696278 0.357713288 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000161898 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 101105499 G T CNNM1 CCDS7478.2 r.? - - intronic 45 0 0 19 3 15.8 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.630738523 0.630738523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 101116888 C T - - - - - - 61 0 0 55 19 34.5 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.845656593 0.922828297 2 2.442982456 1.221491228 2 NA NA 0 NA NA 1 4 NA 1 1 4.51E-30 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 101261740 C T MYL10 CCDS34713.1 r.? - - intronic 28 0 0 33 6 18.2 12 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 101272615 G A - - - - - - 38 0 0 61 16 26.2 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.400690978 1.400690978 1 0.906438596 0.906438596 1 NA NA 0 NA NA 1 4 NA 1 1 2.50E-23 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 101320146 G T GABBR2 CCDS6736.1 r.? - - intronic 50 0 0 42 17 40.5 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.616766467 1.616766467 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.73E-28 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 101371093 A G ANO4 CCDS31884.1 r.? - - intronic 31 0 0 39 16 41 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.193388995 0.93030353 2.357713288 1.221491228 1.221491228 1 NA NA 1 NA NA 0 4 NA 1 1 5.16E-27 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 101373946 C G SLC30A7 CCDS776.1 r.? - - intronic 33 0 0 42 14 33.3 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.662341317 0.831170659 2 3.696385965 1.232128655 3 NA NA 0 NA NA 1 4 NA 1 1 2.83E-22 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 45328700 G A - - - - - - 51 0 0 35 21 60 23 10 43.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.395209581 1.19760479 2 3.815789474 1.907894737 2 NA NA 1 NA NA 1 4 NA 1 1 1.03E-39 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 101423700 G A - - - - - - 33 0 0 37 17 45.9 32 5 15.6 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.453882286 1.226941143 2 1.836421053 1.836421053 1 NA NA 0 0 0 1 4 NA 1 1 1.10E-29 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 101452741 G A - - - - - - 44 0 0 38 18 47.4 37 11 29.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.892215569 0.946107784 2 2.605263158 1.302631579 2 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 101508410 G A - - - - - - 57 0 0 40 15 37.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.872005988 0.936002994 2 1.562679039 1.562679039 1 NA NA 1 NA NA 0 4 NA 1 1 1.09E-24 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 101527341 G A ANKS6 CCDS43856.1 r.? - - intronic 46 0 0 28 8 28.6 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 3.026912281 1.00897076 3 NA NA 0 NA NA 1 4 NA 1 1 1.11E-12 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 49096827 G A - - - - - - 64 0 0 38 5 13.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.526946108 0.526946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 101654118 C A - - - - - - 49 0 0 37 10 27 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.077844311 1.077844311 1 2.337508772 1.168754386 2 NA NA 0 NA NA 1 4 NA 1 1 3.01E-15 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 61633444 T C - - - - - - 32 0 0 30 14 46.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.331271457 1.165635729 2 2.667736842 1.333868421 2 NA NA 1 NA NA 1 4 NA 1 1 8.24E-25 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 101656616 A G - - - - - - 49 0 0 54 22 40.7 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.17588255 1.087941275 2 1.071245614 1.071245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.60E-36 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 101664812 G A - - - - - - 37 0 0 34 16 47.1 19 3 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.51972248 1.068714543 2.357713288 1.543964912 1.543964912 1 NA NA 0 NA NA 0 4 NA 1 1 3.09E-28 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 101758800 C T - - - - - - 50 0 0 48 17 35.4 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.767173653 0.883586826 2 0.735912803 0.735912803 1 NA NA 1 NA NA 0 4 NA 1 1 2.80E-27 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 101764013 A G CUX1 CCDS5721.1 r.? - - intronic 44 0 0 50 14 28 38 6 15.8 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.677764471 0.838882236 2 1.701964912 1.701964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.84E-21 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 101920968 G A NALCN CCDS9498.1 r.? - - intronic 46 0 0 45 7 15.6 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.934754491 0.934754491 1 0.63554386 0.63554386 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000003 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 101920969 C G NALCN CCDS9498.1 r.? - - intronic 45 0 0 48 8 16.7 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.614 0.614 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-10 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 85085870 G T - - - - - - 51 0 0 51 29 56.9 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.840457086 1.420228543 2 1.504877193 1.504877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-53 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 101961635 G A GRIK2 CCDS5049.1 r.? - - intronic 61 0 0 35 16 45.7 24 10 41.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.824351297 0.912175649 2 3.657894737 1.828947368 2 NA NA 1 NA NA 1 4 NA 1 1 5.66E-28 1 1.80E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 101961644 G A GRIK2 CCDS5049.1 r.? - - intronic 60 0 0 31 12 38.7 23 10 43.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.54491018 1.54491018 1 3.815789474 1.907894737 2 NA NA 1 NA NA 1 4 NA 1 1 3.16E-20 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 101996957 G A PCSK6 ENST00000348070 r.? - - intronic 36 0 0 44 14 31.8 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.587461078 0.793730539 2 0.382490887 0.382490887 1 NA NA 1 NA NA 0 4 NA 1 1 6.10E-22 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 102026136 G C - - - - - - 52 0 0 52 5 9.6 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 5 4 3 1 2 1 1 NA NA NA NA NA NA 0.671233533 0.671233533 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 102061081 G T NALCN CCDS9498.1 r.? - - intronic 42 0 0 52 20 38.5 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.306926148 1.153463074 2 0.797122807 0.797122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-32 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 102135385 C T - - - - - - 19 0 0 50 19 38 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.896966068 0.948483034 2 2.25430105 1.127150525 2 NA NA 1 NA NA 0 4 NA 1 1 5.00E-31 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 102135461 G A - - - - - - 59 0 0 39 7 17.9 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.893570858 0.893570858 1 1.006554967 1.006554967 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-09 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 102187197 C G PPP3CA CCDS34037.1 r.? - - intronic 60 0 0 50 5 10 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.499201597 0.499201597 1 0.245304268 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000549 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 102303385 T C ENSG00000237157 ENST00000413770 r.? - - downstream 9 0 0 11 3 27.3 8 1 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.362820359 1.362820359 1 1.258193708 1.258193708 1 NA NA 0 NA NA 0 4 NA 1 1 0.00002 1 0.039306956 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 102329031 C G PPP2R5C CCDS9964.1 r.? - - intronic 52 0 0 34 15 44.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 5.306384543 3 5 0 0 0.850161184 0.693615457 3 5 1 1 0.149838816 0.306384543 2.26755796 1.13377898 2 2.608915903 0.96855544 2.693615457 NA NA 0 NA NA 1 4 NA 1 1 5.18E-26 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 102367261 C G - - - - - - 71 0 0 48 4 8.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.497337325 0.497337325 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 53763822 C G - - - - - - 52 0 0 35 20 57.1 25 10 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 3.50877193 1.754385965 2 NA NA 1 NA NA 1 4 NA 1 1 2.88E-37 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 102435595 A G BANK1 ENST00000504592 r.? - - intronic 57 0 0 35 11 31.4 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.567493014 1.567493014 1 1.399142861 1.399142861 1 NA NA 1 NA NA 0 4 NA 1 1 1.82E-17 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 102442160 T C - - - - - - 53 0 0 50 9 18 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.898562874 0.898562874 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.07E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 102479412 C A NUP37 CCDS9089.1 r.? - - intronic 45 0 0 41 7 17.1 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.914803703 0.914803703 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 1.51E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 102507632 C T - - - - - - 36 0 0 41 11 26.8 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.069860279 1.069860279 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.34E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 102539564 G T - - - - - - 51 0 0 69 17 24.6 49 8 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.505646016 0.752823008 2 1.755824561 1.755824561 1 NA NA 0 NA NA 1 4 NA 1 1 3.56E-24 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 101656543 C G - - - - - - 46 0 0 54 24 44.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.37527979 1.007450652 2.357713288 2.032561404 2.032561404 1 NA NA 1 NA NA 1 4 NA 1 1 7.24E-41 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 106883221 C T POLR3B CCDS9105.1 r.? - - intronic 52 0 0 59 33 55.9 29 10 34.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.990498654 1.268389447 2.357713288 3.371315789 1.685657895 2 NA NA 0 NA NA 0 4 NA 1 1 4.06E-60 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 102734338 C T IL1R1 ENST00000409589 r.? - - intronic 48 0 0 85 18 21.2 58 9 15.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.2975486 1.2975486 1 1.669649123 1.669649123 1 NA NA 0 NA NA 1 4 NA 1 1 3.35E-24 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 102756370 C T NAPEPLD CCDS5729.1 r.? - - intronic 26 0 0 59 22 37.3 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.235021956 1.117510978 2 2.43445614 1.21722807 2 NA NA 1 NA NA 1 4 NA 1 1 1.79E-35 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 102790280 C T - - - - - - 50 0 0 42 21 50 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.673074386 1.336537193 2 2.613368421 0.871122807 3 NA NA 0 NA NA 1 4 NA 1 1 2.32E-37 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 102803566 G A - - - - - - 52 0 0 46 7 15.2 33 0 0 145 0 0 364 28 7.7 309 2 0.6 0.815370923 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.812614613 0.812614613 1 0 0 1 0.411653455 1.162426783 0.354132803 0.070631579 0.070631579 1 3 2 1 1 3.53E-09 4.26E-24 1 0.457571392 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 11 102862231 C A - - - - - - 52 0 0 20 4 20 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.998403194 0.998403194 1 2.144111703 2.144111703 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000284 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 103048013 T G FGF14 CCDS9500.1 r.? - - intronic 44 0 0 57 19 33.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.637333333 1.637333333 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-29 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 103055595 G A INVS CCDS6746.1 r.? - - intronic 44 0 0 30 6 20 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 1.077192982 1.077192982 1 NA NA 0 NA NA 1 4 NA 1 1 8.37E-09 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 54246803 A T - - - - - - 53 0 0 29 5 17.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.686626747 0.686626747 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000336 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 65543100 C T MAX CCDS9771.1 r.708g>a c.? p.? 3'UTR variant 22 0 0 38 10 26.3 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.0499002 1.0499002 1 0.421052632 0.421052632 1 NA NA 1 NA NA 1 4 NA 1 1 4.06E-15 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 103223244 A G - - - - - - 68 0 0 50 17 34 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.817690582 0.908845291 2 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 6.43E-27 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 103276692 C T DYNC2H1 CCDS44717.1 r.? - - intronic 45 0 0 39 13 33.3 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.662341317 0.831170659 2 1.577386143 1.577386143 1 NA NA 1 NA NA 0 4 NA 1 1 8.79E-21 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 103284352 C T RELN CCDS47680.1 r.? - - intronic 47 0 0 43 6 14 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.838882236 0.838882236 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 103288526 C T SLC9A2 CCDS2062.1 r.? - - intronic 37 0 0 45 11 24.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.493404992 1.493404992 1 1.077192982 1.077192982 1 NA NA 1 NA NA 0 4 NA 1 1 4.24E-16 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 103312912 A G SLC9A2 CCDS2062.1 r.? - - intronic 57 0 0 56 5 8.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.544725591 0.544725591 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000965 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 103344484 C T - - - - - - 59 0 0 52 10 19.2 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.958467066 0.958467066 1 0.536035252 0.536035252 1 NA NA 1 NA NA 0 4 NA 1 1 1.28E-13 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 103365183 C A - - - - - - 61 0 0 38 19 50 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.673074386 1.336537193 2 2.425017544 0.808339181 3 NA NA 0 NA NA 1 4 NA 1 1 6.16E-34 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 103404593 G A - - - - - - 8 0 0 37 5 13.5 10 2 20 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.673922156 0.673922156 1 1.817068651 1.817068651 1 0 0 1 NA NA 0 4 NA 1 1 0.00000119 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 103440856 C G COL11A1 CCDS779.1 r.? - - intronic 32 0 0 38 6 15.8 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.788738523 0.788738523 1 0.529736842 0.529736842 1 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 103461466 C A - - - - - - 57 0 0 29 8 27.6 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.101796407 1.101796407 1 0.452421053 0.452421053 1 NA NA 0 NA NA 1 4 NA 1 1 1.53E-12 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 103468708 C T ENSG00000198752 CCDS9978.1 r.? - - intronic 21 0 0 25 11 44 32 10 31.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.532307329 8 4 7 0 1 0.467692671 1 4 NA 1 NA 0.532307329 NA 2.870702251 0.95690075 3 4.608842105 0.921768421 5 NA NA 0 NA NA 1 4 NA 1 1 2.04E-19 1 5.70E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 103477993 G A - - - - - - 70 0 0 52 12 23.1 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.235787458 1.235787458 1 0.654719298 0.654719298 1 NA NA 1 NA NA 0 4 NA 1 1 4.19E-17 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 103515936 C G COL11A1 CCDS779.1 r.? - - intronic 38 0 0 38 4 10.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.524161677 0.524161677 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 103552883 G A RELN CCDS47680.1 r.? - - intronic 44 0 0 51 19 37.3 44 8 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.235021956 1.117510978 2 1.960491228 0.980245614 2 NA NA 1 NA NA 1 4 NA 1 1 7.94E-31 1 5.90E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 103604716 T G - - - - - - 47 0 0 48 15 31.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.245508982 1.245508982 1 0.894070175 0.894070175 1 NA NA 0 NA NA 1 4 NA 1 1 2.86E-23 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 72081595 G A SIPA1L1 CCDS9807.1 r.? - - intronic 60 0 0 40 23 57.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.295409182 1.147704591 2 1.583052632 1.583052632 1 NA NA 0 NA NA 1 4 NA 1 1 9.75E-43 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 103696382 G A C12orf42 CCDS44963.1 r.? - - intronic 26 0 0 40 10 25 14 1 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.337432314 1.337432314 1 0.693807018 0.693807018 1 NA NA 0 NA NA 0 4 NA 1 1 7.22E-15 1 0.067769881 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 103706491 G T SLC10A2 CCDS9506.1 r.? - - intronic 44 0 0 37 6 16.2 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.970706587 0.970706587 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 103727489 A C - - - - - - 40 0 0 40 16 40 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 8.56E-27 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 103731629 A T - - - - - - 47 0 0 56 10 17.9 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.095571695 1.095571695 1 1.012561404 1.012561404 1 NA NA 1 NA NA 1 4 NA 1 1 2.82E-13 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 103748030 C G - - - - - - 37 0 0 36 5 13.9 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.850751204 0.850751204 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 103808419 A G C12orf42 CCDS44963.1 r.? - - intronic 52 0 0 41 21 51.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.739061379 1.161744896 2.357713288 2.667736842 1.333868421 2 NA NA 1 NA NA 0 4 NA 1 1 1.17E-37 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 72475503 T C RGS6 CCDS9808.1 r.? - - intronic 32 0 0 22 12 54.5 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 2.175648703 1.087824351 2 3.254052632 1.084684211 3 NA NA 0 NA NA 1 4 NA 1 1 1.51E-22 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 78469606 C A - - - - - - 54 0 0 32 16 50 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.895754386 1.895754386 1 NA NA 0 NA NA 1 4 NA 1 1 8.51E-29 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 83076914 G T - - - - - - 43 0 0 37 7 18.9 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.754491018 0.754491018 1 0.527684211 0.527684211 1 NA NA 0 NA NA 1 4 NA 1 1 7.05E-10 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 103872926 G T C12orf42 CCDS44963.1 r.? - - intronic 47 0 0 46 9 19.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.048546934 1.048546934 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.82E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 103910106 C G - - - - - - 48 0 0 18 11 61.1 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.439121756 1.219560878 2 1.412280702 1.412280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.50E-21 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 86058329 A T FLRT2 CCDS9877.1 r.? - - intronic 58 0 0 41 9 22 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.878243513 0.878243513 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.92E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 103966938 C G - - - - - - 24 0 0 41 19 46.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.311303393 1.155651697 2 1.822226682 1.822226682 1 NA NA 1 NA NA 0 4 NA 1 1 4.20E-33 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 104006422 A C - - - - - - 48 0 0 55 6 10.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 104048239 A C - - - - - - 38 0 0 40 11 27.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.470190912 1.470190912 1 2.69577193 0.898590643 3 NA NA 0 NA NA 1 4 NA 1 1 9.88E-17 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 104108191 G T STAB2 CCDS31888.1 r.? - - intronic 48 0 0 56 6 10.7 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.57242103 0.57242103 1 1.12377193 1.12377193 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000409 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 104115529 C G AMY2B CCDS782.1 r.? - - intronic 71 0 0 49 16 32.7 45 11 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.632389222 0.816194611 2 2.872350877 0.957450292 3 NA NA 0 NA NA 1 4 NA 1 1 4.37E-25 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 111307923 G T CCDC63 CCDS9151.1 r.? - - intronic 41 0 0 37 6 16.2 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.86665614 0.86665614 1 1.807807018 1.807807018 1 NA NA 1 NA NA 0 4 NA 1 1 3.18E-08 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104169975 T C - - - - - - 39 0 0 21 9 42.9 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 1.71257485 1 0.421052632 0.421052632 1 NA NA 1 NA NA 1 4 NA 1 1 5.44E-16 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 104254097 G T - - - - - - 54 0 0 32 7 21.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.093251497 1.093251497 1 0.563291282 0.563291282 1 NA NA 1 NA NA 0 4 NA 1 1 2.36E-10 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 104304946 G A AMY1C CCDS30784.1 r.? - - downstream 45 0 0 39 14 35.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.792133733 0.896066866 2 2.02477193 2.02477193 1 NA NA 0 NA NA 1 4 NA 1 1 8.19E-23 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104335407 C T - - - - - - 55 0 0 39 8 20.5 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.818363273 0.818363273 1 0.271929825 0.271929825 1 NA NA 1 NA NA 1 4 NA 1 1 2.09E-11 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104338615 A T - - - - - - 24 0 0 29 18 62.1 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.479041916 1.239520958 2 2.438596491 1.219298246 2 NA NA 1 NA NA 1 4 NA 1 1 1.25E-34 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 104343049 C A - - - - - - 69 1 1.4 42 19 45.2 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.256391218 1.128195609 2 0.799510206 0.799510206 1 NA NA 1 NA NA 0 4 NA 0.292392265 1 7.64E-33 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 104408632 G A ENSG00000232402 ENST00000438939 r.? - - intronic 40 0 0 31 16 51.6 15 7 46.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.05988024 1.02994012 2 4.096491228 2.048245614 2 NA NA 1 NA NA 1 4 NA 1 1 4.27E-29 1 4.85E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 104430289 G T SLC25A32 CCDS6300.1 r.? - - upstream 26 0 0 40 6 15 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.748802395 0.748802395 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 104441163 G A LHFPL3 ENST00000424859 r.? - - intronic 53 0 0 41 11 26.8 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.605860279 1.605860279 1 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.34E-16 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104477287 G A - - - - - - 53 0 0 28 12 42.9 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 0.856287425 2 1.289473684 1.289473684 1 NA NA 1 NA NA 1 4 NA 1 1 6.90E-21 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 104483120 C T HCFC2 CCDS9097.1 r.? - - intronic 34 0 0 39 5 12.8 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.684765345 0.684765345 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 104544312 G T - - - - - - 43 0 0 36 19 52.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.824657047 1.198049424 2.357713288 2.79477193 1.397385965 2 NA NA 1 NA NA 1 4 NA 1 1 1.51E-34 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 104570803 G C - - - - - - 60 0 0 55 10 18.2 47 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.113933232 1.113933232 1 0.463192982 0.463192982 1 NA NA 1 NA NA 0 4 NA 1 1 2.33E-13 1 0.02328732 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 104574514 T G - - - - - - 38 0 0 43 5 11.6 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.579073852 0.579073852 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 104584820 G A MIR203 ENST00000384836 r.? - - downstream 12 0 0 34 21 61.8 13 6 46.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.532307329 8 4 7 0 1 0.467692671 1 4 NA 1 NA 0.532307329 NA 4.032031797 1.008007949 4 6.824631579 0.974947368 7 NA NA 0 NA NA 1 4 NA 1 1 4.16E-40 1 2.60E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 104641092 T G - - - - - - 46 0 0 53 8 15.1 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.904794411 0.904794411 1 0.570912281 0.570912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.83E-10 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 104641510 G T - - - - - - 40 0 0 38 6 15.8 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.946738523 0.946738523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.76E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 104668935 C A MLL5 CCDS34723.1 r.? - - intronic 31 0 0 54 21 38.9 46 10 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.330894212 1.165447106 2 2.337508772 1.168754386 2 NA NA 1 NA NA 1 4 NA 1 1 2.12E-34 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 116058418 G A - - - - - - 28 0 0 50 8 16 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.855956681 0.855956681 1 1.045596491 1.045596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.74E-10 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104678861 C T - - - - - - 49 0 0 33 19 57.6 20 8 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.299401198 1.149700599 2 3.50877193 1.754385965 2 NA NA 1 NA NA 1 4 NA 1 1 1.46E-35 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 104697177 G C - - - - - - 52 0 0 53 21 39.6 48 12 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.423722856 1.138701938 2.128496294 2.692982456 1.346491228 2 NA NA 0 NA NA 1 4 NA 1 1 1.30E-34 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 104734785 G A - - - - - - 40 0 0 43 8 18.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.994383671 0.994383671 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.85E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 104736494 G C CNNM2 CCDS44474.1 r.? - - intronic 35 0 0 42 12 28.6 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-18 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 104797958 G T - - - - - - 41 0 0 58 5 8.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.526364055 0.526364055 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000115 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 104813363 G C CASP4 CCDS8327.1 r.? - - downstream 51 0 0 31 8 25.8 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 1.28794012 1.28794012 1 0.37781704 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.78E-12 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 104859996 G T - - - - - - 53 0 0 42 5 11.9 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.5940499 0.5940499 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 104881276 G T - - - - - - 42 0 0 61 6 9.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.599810202 0.599810202 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000685 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 104931072 T A - - - - - - 42 0 0 34 6 17.6 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.70259481 0.70259481 1 0.49122807 0.49122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.86E-08 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 104954685 C A - - - - - - 45 0 0 62 19 30.6 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.833556886 0.916778443 2 1.508070175 1.508070175 1 NA NA 1 NA NA 1 4 NA 1 1 6.66E-29 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 22470897 T A - - - - - - 34 0 0 30 9 30 31 10 32.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.19760479 1.19760479 1 2.833333333 1.416666667 2 NA NA 1 NA NA 1 4 NA 1 1 2.54E-14 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 105071389 A C - - - - - - 49 0 0 39 13 33.3 35 6 17.1 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.842 1.842 1 5.992015968 5.992015968 1 NA NA 1 4 NA 1 1 8.79E-21 0.005 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 55676297 T C - - - - - - 49 0 0 61 23 37.7 33 4 12.1 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.25899002 1.12949501 2 1.303403509 1.303403509 1 NA NA 1 0 0 1 4 NA 1 1 3.73E-37 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 105122280 G C - - - - - - 49 0 0 56 17 30.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.860635728 0.930317864 2 1.734280702 1.734280702 1 NA NA 0 NA NA 0 4 NA 1 1 6.22E-26 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 105139557 G T - - - - - - 59 0 0 28 13 46.4 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.852295409 0.926147705 2 1.947368421 1.947368421 1 NA NA 1 NA NA 1 4 NA 1 1 4.26E-23 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 105162318 G A - - - - - - 43 0 0 47 5 10.6 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.529153693 0.529153693 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 105204523 C T - - - - - - 33 0 0 23 4 17.4 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.694610778 0.694610778 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000513 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 95092024 G T SERPINA3 CCDS32150.1 r.? - - downstream 42 0 0 26 9 34.6 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 1.779081755 0.961582034 1.850161184 0.781754386 0.781754386 1 NA NA 0 NA NA 0 4 NA 1 1 5.65E-15 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 105229348 C T SIVA1 CCDS9992.1 r.? - - downstream 20 0 0 20 10 50 42 16 38.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.532307329 8 4 7 0 1 0.467692671 1 4 NA 1 NA 0.532307329 NA 3.262161648 0.940729747 3.467692671 5.628105263 0.938017544 6 NA NA 0 NA NA 1 4 NA 1 1 1.72E-18 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 105237796 G A - - - - - - 44 0 0 33 12 36.4 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.181093812 1.090546906 2 3.231578947 1.615789474 2 NA NA 1 NA NA 1 4 NA 1 1 7.86E-20 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 105251131 G A - - - - - - 51 0 0 47 20 42.6 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.126598802 1.063299401 2 0.981217071 0.981217071 1 NA NA 1 NA NA 0 4 NA 1 1 8.18E-34 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 97196916 C A - - - - - - 48 0 0 20 3 15 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 5.306384543 3 5 0 0 0.850161184 0.693615457 3 5 1 1 0.149838816 0.306384543 0.771278218 0.771278218 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0001337 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 105372556 A G ATXN7L1 CCDS47682.1 r.? - - intronic 49 0 0 40 17 42.5 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.546606786 1.273303393 2 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 6.07E-29 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 105429360 T C ALDH1L2 CCDS31891.1 r.? - - intronic 53 0 0 53 8 15.1 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.807809118 0.807809118 1 0.517912281 0.517912281 1 NA NA 0 NA NA 0 4 NA 1 1 2.83E-10 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 105451780 G A LIN28B CCDS34504.1 r.? - - intronic 59 0 0 31 18 58.1 45 10 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.319361277 1.159680639 2 1.947368421 0.973684211 2 NA NA 1 NA NA 1 4 NA 1 1 7.40E-34 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 97920571 G T AL445885.1 ENST00000499910 r.? - - upstream 63 0 0 27 9 33.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 5.306384543 3 5 0 0 0.850161184 0.693615457 3 5 1 1 0.149838816 0.306384543 1.712237643 1.712237643 1 0 0 1 NA NA 0 NA NA 0 4 NA 1 1 8.44E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 105566796 C G - - - - - - 64 0 0 45 7 15.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.778754491 0.778754491 1 2.224894737 1.112447368 2 NA NA 0 NA NA 1 4 NA 1 1 0.000000003 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 105606034 T C - - - - - - 45 1 2.2 61 23 37.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.25899002 1.12949501 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 0.201934322 1 3.73E-37 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 105645399 G A - - - - - - 18 0 0 38 15 39.5 5 1 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.971846307 0.985923154 2 1.878584208 1.878584208 1 NA NA 1 NA NA 0 4 NA 1 1 4.24E-25 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 105775827 A G - - - - - - 50 0 0 41 11 26.8 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.432767871 1.432767871 1 0.859350877 0.859350877 1 NA NA 0 NA NA 1 4 NA 1 1 1.34E-16 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 105791860 C A - - - - - - 61 0 0 47 11 23.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.402131737 1.402131737 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 7.21E-16 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 105791951 A T - - - - - - 34 0 0 59 7 11.9 26 0 0 298 0 0 426 18 4.2 384 0 0 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.728340959 0.728340959 1 0 0 1 0.257061515 0.257061515 1 0 NA 0 3 NA 1 1 2.12E-08 1.28E-11 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 14 105833019 C T PACS2 CCDS45178.1 r.? - - intronic 13 0 0 32 16 50 11 4 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.532307329 4 4 3 0 1 0.467692671 1 4 NA 1 NA 0.532307329 NA 3.262161648 0.940729747 3.467692671 3.920982456 1.306994152 3 NA NA 0 NA NA 0 4 NA 1 1 8.51E-29 1 0.000000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 105889032 T C - - - - - - 48 0 0 48 16 33.3 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.781459842 0.890729921 2 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.96E-25 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 105922352 T A - - - - - - 61 0 0 58 15 25.9 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.292932136 1.292932136 1 0.638718631 0.638718631 1 NA NA 1 NA NA 0 4 NA 1 1 7.42E-22 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 20435881 A G ENSG00000215407 ENST00000400226 r.? - - intronic 93 0 0 121 8 6.6 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.403731855 5 4 4 2 1 0.596268145 1 5 NA 2 NA 0.403731855 NA 0.554119356 1.372493525 0.403731855 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000213 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 105930416 G T - - - - - - 56 0 0 32 13 40.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.620758483 1.620758483 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 3.88E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 105939811 A T - - - - - - 53 0 0 43 5 11.6 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.579073852 0.579073852 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 106011826 G T - - - - - - 71 0 0 44 8 18.2 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 0.788719298 0.788719298 1 NA NA 0 NA NA 1 4 NA 1 1 5.90E-11 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 106092872 A G - - - - - - 46 0 0 41 8 19.5 46 4 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.973443114 0.973443114 1 0.817184131 0.817184131 1 NA NA 1 NA NA 0 4 NA 1 1 3.22E-11 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 106170304 C T - - - - - - 46 0 0 16 10 62.5 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.49500998 1.24750499 2 2.438596491 1.219298246 2 NA NA 1 NA NA 1 4 NA 1 1 7.61E-20 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106178587 C A - - - - - - 56 0 0 26 8 30.8 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.229540918 1.229540918 1 1.540385965 1.540385965 1 NA NA 0 NA NA 1 4 NA 1 1 5.63E-13 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 106218990 G C - - - - - - 39 0 0 39 19 48.7 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.431111776 1.215555888 2 0.881278296 0.881278296 1 NA NA 1 NA NA 0 4 NA 1 1 1.20E-33 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 106224188 G A AC018802.1 ENST00000515044 r.? - - intronic 56 0 0 54 19 35.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.154420316 1.012179501 2.128496294 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.97E-30 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 106273945 A G - - - - - - 53 0 0 51 14 27.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.372804391 1.372804391 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.64E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 106281310 G A - - - - - - 42 0 0 61 19 31.1 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.863516966 0.931758483 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.64E-29 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 106312840 G A PPA2 CCDS3667.1 r.? - - intronic 47 0 0 52 10 19.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.958467066 0.958467066 1 1.599020412 1.599020412 1 NA NA 1 NA NA 0 4 NA 1 1 1.28E-13 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 106339254 A G - - - - - - 53 0 0 51 14 27.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.647804391 0.823902196 2 2.46677193 1.233385965 2 NA NA 1 NA NA 1 4 NA 1 1 6.64E-21 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 106382705 T G - - - - - - 42 0 0 25 3 12 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.641967511 0.641967511 1 0.517912281 0.517912281 1 NA NA 1 NA NA 0 4 NA 1 1 0.00026475 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106392154 G C - - - - - - 61 0 0 37 8 21.6 32 10 31.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.862275449 0.862275449 1 3.360842105 1.120280702 3 NA NA 0 NA NA 1 4 NA 1 1 1.33E-11 1 5.70E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106392190 G A - - - - - - 61 0 0 36 10 27.8 27 10 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.109780439 1.109780439 1 3.985614035 1.328538012 3 NA NA 0 NA NA 1 4 NA 1 1 2.21E-15 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 22318213 T C ENSG00000232405 ENST00000429718 r.? - - downstream 39 0 0 66 13 19.7 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.403731855 5 4 4 2 1 0.596268145 1 5 NA 2 NA 0.403731855 NA 1.653962321 0.826981161 2 1.765789474 1.765789474 1 NA NA 0 NA NA 0 4 NA 1 1 1.95E-17 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 106401119 C T - - - - - - 41 0 0 28 14 50 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.394736842 1.197368421 2 NA NA 1 NA NA 1 4 NA 1 1 2.29E-25 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106478785 G A - - - - - - 40 0 0 32 7 21.9 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.874251497 0.874251497 1 0.980245614 0.980245614 1 NA NA 0 NA NA 1 4 NA 1 1 2.36E-10 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 106482999 T G NCK2 CCDS33266.1 r.? - - intronic 23 0 0 49 8 16.3 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.997643499 0.997643499 1 0.980245614 0.980245614 1 NA NA 1 NA NA 0 4 NA 1 1 1.47E-10 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 106494908 G A - - - - - - 46 0 0 49 10 20.4 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.222371257 1.222371257 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.72E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 106508052 G A - - - - - - 48 0 0 35 12 34.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.833729029 0.916864514 2 1.730473684 1.730473684 1 NA NA 0 NA NA 1 4 NA 1 1 1.83E-19 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106520521 G A - - - - - - 42 0 0 37 8 21.6 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.862275449 0.862275449 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.33E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 106555450 T A GUCY1A2 CCDS8335.1 r.? - - downstream 64 0 0 52 14 26.9 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.880852295 0.940426148 2 1.07916632 1.07916632 1 NA NA 1 NA NA 0 4 NA 1 1 9.04E-21 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 106562264 C T - - - - - - 39 0 0 40 17 42.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.601217711 1.222091727 2.128496294 1.163368421 1.163368421 1 NA NA 1 NA NA 1 4 NA 1 1 6.07E-29 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 106632452 T G - - - - - - 56 0 0 26 4 15.4 19 2 10.5 0 0 NA 0 0 NA 1 1 100 0.01 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.614770459 0.614770459 1 0.921052632 0.921052632 1 NA NA 1 8.771929825 8.771929825 1 4 NA 1 1 0.00000856 1 0.004039874 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 106671327 A G - - - - - - 58 0 0 61 19 31.1 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.863516966 0.931758483 2 2.046666667 1.023333333 2 NA NA 1 NA NA 1 4 NA 1 1 4.64E-29 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 106738399 C T - - - - - - 36 0 0 23 11 47.8 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.657221292 1.123559525 1.474974183 1.99122807 1.99122807 1 NA NA 0 NA NA 1 4 NA 1 1 6.25E-20 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 106762146 G T GUCY1A2 CCDS8335.1 r.? - - intronic 62 0 0 56 13 23.2 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.622147705 0.811073852 2 0.94427053 0.94427053 1 NA NA 0 NA NA 1 4 NA 1 1 1.89E-18 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 106770567 C A GSTCD CCDS43257.1 r.? - - downstream 50 0 0 48 13 27.1 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.352836327 1.352836327 1 0.408840446 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.00E-19 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 106808195 G T ZFPM2 CCDS47908.1 r.? - - intronic 48 0 0 35 11 31.4 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.567493014 1.567493014 1 1.089578841 1.089578841 1 NA NA 1 NA NA 0 4 NA 1 1 1.82E-17 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 106877721 A C - - - - - - 45 0 0 40 4 10 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.534614877 0.534614877 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 59671984 G C - - - - - - 47 0 0 67 22 32.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.965381238 0.982690619 2 2.940736842 1.470368421 2 NA NA 1 NA NA 1 4 NA 1 1 5.21E-34 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 106963040 C T - - - - - - 17 0 0 38 7 18.4 8 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.734530938 0.734530938 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 106999881 A G - - - - - - 60 0 0 56 10 17.9 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.251570858 1.251570858 1 0.919744022 0.919744022 1 NA NA 0 NA NA 0 4 NA 1 1 2.82E-13 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 107052854 G A RTN4IP1 CCDS5056.1 r.? - - intronic 24 0 0 21 8 38.1 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.520958084 1.520958084 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.50E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 107106145 T G - - - - - - 41 0 0 31 14 45.2 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.804391218 0.902195609 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.49E-24 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 107180003 A G - - - - - - 44 0 0 33 20 60.6 23 7 30.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.419161677 1.209580838 2 2.666666667 1.333333333 2 NA NA 1 NA NA 1 4 NA 1 1 5.14E-38 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 107246290 A G - - - - - - 65 0 0 57 17 29.8 45 9 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 8.82E-26 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 60039367 G A - - - - - - 41 0 0 65 22 33.8 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.025301397 1.012650699 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 2.36E-34 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 107454613 C A - - - - - - 32 1 3.1 20 11 55 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 3.295608782 1.647804391 2 2.531403509 2.531403509 1 NA NA 1 NA NA 1 4 NA 0.14819814 1 7.87E-21 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 107533000 A G BBX CCDS2950.1 r.? - - downstream 42 0 0 41 10 24.4 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.3044603 1.3044603 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 107568295 C T COL4A6 CCDS14542.1 r.? - - intronic 53 0 0 25 11 44 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.525475667 1.525475667 1 1.385964912 1.385964912 1 NA NA 0 NA NA 1 4 NA 1 1 2.04E-19 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 107601427 T A - - - - - - 45 0 0 43 19 44.2 35 13 37.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.364580331 1.002912586 2.357713288 3.625385965 1.812692982 2 NA NA 1 NA NA 0 4 NA 1 1 1.36E-32 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 23858003 T A - - - - - - 40 0 0 62 18 29 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.860744679 5 4 4 0 1 0.139255321 1 4 NA 1 NA 0.860744679 NA 1.987300588 0.993650294 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 5.72E-27 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 107654826 G C - - - - - - 54 0 0 49 4 8.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.501882005 0.501882005 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 107710584 T C LAMB4 CCDS34732.1 r.? - - intronic 57 0 0 37 4 10.8 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.647137725 0.647137725 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 107772805 C G - - - - - - 41 0 0 33 9 27.3 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.362820359 1.362820359 1 0.590547311 0.590547311 1 NA NA 1 NA NA 0 4 NA 1 1 6.76E-14 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 107785062 G T - - - - - - 57 1 1.8 44 12 27.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.670899847 0.835449924 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 0.248523156 1 4.44E-18 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 108001923 C T - - - - - - 56 0 0 58 22 37.9 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.512974052 0.756487026 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.13E-35 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 108028941 C G FAM155A CCDS32006.1 r.? - - intronic 48 0 0 32 10 31.2 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 0.743263158 0.743263158 1 NA NA 1 NA NA 1 4 NA 1 1 5.70E-16 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 108090918 C T - - - - - - 61 0 0 50 32 64 47 16 34 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.55489022 1.27744511 2 2.98245614 1.49122807 2 NA NA 1 NA NA 1 4 NA 1 1 3.85E-61 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 108150883 A G - - - - - - 48 1 2.1 22 6 27.3 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 0 0 1 NA NA 1 NA NA 1 3 NA 0.213845552 1 1.09E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 61624394 A T - - - - - - 57 0 0 61 18 29.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.767644711 0.883822355 2 1.497298246 1.497298246 1 NA NA 1 NA NA 1 4 NA 1 1 4.08E-27 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 108312019 T C ANGPT1 CCDS6306.1 r.? - - intronic 30 0 0 20 5 25 11 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.248003992 1.248003992 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.55E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 108385318 C G FER CCDS4098.1 r.? - - intronic 53 0 0 37 8 21.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.862275449 0.862275449 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.33E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 108461470 G A SORCS1 CCDS7559.1 r.? - - intronic 65 0 0 31 6 19.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 31774286 C A OTUD7A CCDS10026.1 r.4085g>u c.? p.? 3'UTR variant 33 0 0 47 7 14.9 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 0.743810379 0.743810379 1 0.685245867 0.685245867 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-09 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 108594226 G A SORCS1 CCDS7559.1 r.? - - intronic 44 0 0 54 6 11.1 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.443113772 0.443113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 108655607 G C - - - - - - 48 0 0 44 6 13.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.727563179 0.727563179 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 108659394 A G LACE1 CCDS5067.1 r.? - - intronic 53 0 0 39 21 53.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.147704591 1.073852295 2 1.710526316 1.710526316 1 NA NA 1 NA NA 1 4 NA 1 1 2.73E-38 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 108687770 C T - - - - - - 53 0 0 32 13 40.6 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.620758483 1.620758483 1 0.333929825 0.333929825 1 NA NA 0 NA NA 1 4 NA 1 1 3.88E-22 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 108699112 T A PJA2 CCDS4099.1 r.? - - intronic 55 0 0 32 16 50 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.456140351 1.228070175 2 NA NA 1 NA NA 1 4 NA 1 1 8.51E-29 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 108725874 A T - - - - - - 48 0 0 54 10 18.5 37 10 27 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.108522954 1.108522954 1 2.908421053 1.454210526 2 NA NA 1 NA NA 1 4 NA 1 1 1.91E-13 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 108743681 G A - - - - - - 46 0 0 55 19 34.5 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.11157673 0.992050931 2.128496294 0.614 0.614 1 NA NA 1 NA NA 1 4 NA 1 1 4.51E-30 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 66986747 A T PCDH9 CCDS9443.1 r.? - - intronic 58 0 0 57 10 17.5 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.048602794 1.048602794 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.40E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 108758566 C G - - - - - - 42 0 0 21 9 42.9 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.71257485 1.71257485 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 5.44E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 108789424 C T SGMS2 CCDS3677.1 r.? - - intronic 44 0 0 37 14 37.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.886982036 0.943491018 2 2.507554738 1.909189204 1.313413428 NA NA 1 NA NA 0 4 NA 1 1 3.35E-23 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 108809860 T C - - - - - - 54 0 0 49 11 22.4 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.118211577 1.118211577 1 0.826577052 0.826577052 1 NA NA 1 NA NA 0 4 NA 1 1 1.19E-15 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 108844494 C A - - - - - - 61 0 0 60 12 20 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.069229754 1.069229754 1 1.530350877 1.530350877 1 NA NA 0 NA NA 1 4 NA 1 1 2.74E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 108856170 A G - - - - - - 44 0 0 42 12 28.6 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 0.991559183 0.991559183 1 1.315789474 1.315789474 1 NA NA 0 NA NA 1 4 NA 1 1 2.35E-18 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 108905044 T G - - - - - - 45 0 0 38 7 18.4 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0.323157895 0.323157895 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 108928107 G A - - - - - - 42 0 0 24 9 37.5 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.004805789 1.002402895 2 3.778789474 1.259596491 3 NA NA 0 NA NA 1 4 NA 1 1 2.39E-15 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 108992402 A G - - - - - - 44 0 0 28 7 25 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 8.44E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 109001198 T A RSPO2 CCDS6307.1 r.? - - intronic 56 0 0 55 25 45.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.271367265 1.135683633 2 2.470338234 1.235169117 2 NA NA 1 NA NA 0 4 NA 1 1 7.96E-43 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 109013658 G A SELPLG CCDS31895.1 r.? - - downstream 38 0 0 36 9 25 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.337432314 1.337432314 1 1.465789474 1.465789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-13 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 71736389 G A - - - - - - 36 0 0 43 16 37.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.22902994 1.11451497 2 1.874315789 1.874315789 1 NA NA 1 NA NA 1 4 NA 1 1 3.56E-26 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 109103012 G A - - - - - - 44 0 0 26 8 30.8 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.229540918 1.229540918 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.63E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 109229957 C T - - - - - - 51 0 0 56 6 10.7 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.641145709 0.641145709 1 0.570912281 0.570912281 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000409 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 109242442 T C EIF3E CCDS6308.1 r.? - - intronic 49 0 0 43 17 39.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.971846307 0.985923154 2 2.122800156 1.061400078 2 NA NA 1 NA NA 0 4 NA 1 1 2.84E-28 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 109253983 T A - - - - - - 39 0 0 64 7 10.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.762129741 0.762129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.78E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 109261707 C G - - - - - - 51 0 0 44 11 25 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.248003992 1.248003992 1 0.69957143 0.69957143 1 NA NA 1 NA NA 0 4 NA 1 1 3.22E-16 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 109380259 G A AKNAD1 CCDS791.2 r.1718c>u c.1449C>T p.S483S silent 52 0 0 31 11 35.5 33 8 24.2 144 0 0 212 71 33.5 226 52 23 9.88E-54 TRUE TRUE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.772165669 0.886082834 2 2.848807018 0.949602339 3 1.672325349 0.836162675 2 2.70754386 0.90251462 3 4 3 1 1 3.77E-18 6.19E-107 4.85E-12 5.18E-69 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 11 109402784 A G - - - - - - 50 0 0 57 14 24.6 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.720035928 0.860017964 2 2.452650727 0.984476895 2.491323809 NA NA 1 NA NA 1 4 NA 1 1 3.84E-20 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 109504230 C A - - - - - - 48 0 0 46 6 13 32 4 12.5 180 0 0 341 60 17.6 434 93 21.4 1.35E-91 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.69499934 0.69499934 1 1.471491228 1.471491228 1 0.940922184 0.940922184 1 2.519192982 0.839730994 3 4 3 1 1 0.000000123 9.63E-72 0.0000201 7.43E-119 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 109504241 C A - - - - - - 44 0 0 52 7 13.5 29 4 13.8 195 1 0.5 356 60 16.9 437 89 20.4 1.26E-85 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.721730084 0.721730084 1 1.624526316 1.624526316 1 0.903499142 0.903499142 1 2.401473684 0.800491228 3 4 3 1 0.623729002 8.58E-09 1.52E-70 0.0000134 1.15E-111 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 4 109524638 A G - - - - - - 19 0 0 20 5 25 17 2 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.248003992 1.248003992 1 1.072070504 1.072070504 1 NA NA 1 NA NA 0 4 NA 1 1 4.55E-08 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 109528915 T C - - - - - - 45 0 0 35 15 42.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.71257485 0.856287425 2 1.684210526 1.684210526 1 NA NA 1 NA NA 1 4 NA 1 1 9.02E-26 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 109592565 C T - - - - - - 52 0 0 31 7 22.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.902195609 0.902195609 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.85E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 39294045 C A - - - - - - 40 0 0 52 10 19.2 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0.958467066 0.958467066 1 0.299858698 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.28E-13 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 109678767 C T - - - - - - 58 0 0 45 8 17.8 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.066578842 1.066578842 1 0.527824561 0.527824561 1 NA NA 1 NA NA 1 4 NA 1 1 7.14E-11 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 109701404 G A MYO16 CCDS32008.1 r.? - - intronic 37 0 0 45 13 28.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.731692615 0.865846307 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 7.68E-20 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 109748226 G A - - - - - - 54 0 0 38 8 21.1 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.264315369 1.264315369 1 0.301614035 0.301614035 1 NA NA 1 NA NA 1 4 NA 1 1 1.67E-11 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 109762240 G A - - - - - - 44 0 0 32 5 15.6 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.778754491 0.778754491 1 1.127150525 1.127150525 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000562 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 109778192 T C - - - - - - 48 0 0 27 6 22.2 44 7 15.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.108227545 1.108227545 1 1.493474446 1.493474446 1 NA NA 1 NA NA 0 4 NA 1 1 4.23E-09 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 109820231 G A MYO16 CCDS32008.1 r.? - - intronic 55 0 0 51 11 21.6 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.294275449 1.294275449 1 1.454210526 1.454210526 1 NA NA 1 NA NA 1 4 NA 1 1 1.94E-15 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 87952242 C T - - - - - - 64 0 0 64 8 12.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.35E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 109852085 G A SORT1 CCDS798.1 r.? - - downstream 57 1 1.8 49 20 40.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.036742515 1.018371257 2 2.213122807 1.106561404 2 NA NA 0 NA NA 1 4 NA 0.248523156 1 2.35E-33 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 109900432 T C - - - - - - 50 0 0 51 9 17.6 54 6 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.23059481 1.23059481 1 1.361221153 1.361221153 1 NA NA 1 NA NA 0 4 NA 1 1 4.92E-12 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 109998885 C G ZC3H12C CCDS44727.1 r.? - - intronic 41 0 0 48 4 8.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.580337325 0.580337325 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 110032453 G A - - - - - - 59 0 0 43 6 14 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.748460828 0.748460828 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 8.13E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 44860890 C T SPG11 CCDS10112.1 r.? - - intronic 35 0 0 51 12 23.5 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.173123752 1.173123752 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 3.24E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 110187424 C A PAK3 CCDS14554.1 r.? - - upstream 24 0 0 17 7 41.2 7 1 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.428399942 1.428399942 1 1.254385965 1.254385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.45E-12 1 0.034479353 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 110201366 T C - - - - - - 27 0 0 25 8 32 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.91744511 0.958722555 2 1.734280702 1.734280702 1 NA NA 1 NA NA 1 4 NA 1 1 3.92E-13 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 110221677 C A - - - - - - 50 0 0 32 4 12.5 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 110229917 C T - - - - - - 54 0 0 41 19 46.3 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.848303393 0.924151697 2 1.798245614 1.798245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.20E-33 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 110235759 T C - - - - - - 37 0 0 46 6 13 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.648962076 0.648962076 1 2.010085103 2.010085103 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000123 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 110243276 A G TRPV4 CCDS9134.1 r.? - - intronic 25 0 0 33 5 15.2 30 0 0 215 0 0 11 0 0 28 0 0 1 TRUE TRUE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.813158847 0.813158847 1 0 0 1 0 0 1 0 0 1 3 NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 110253608 T A - - - - - - 61 0 0 42 16 38.1 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.036882682 1.018441341 2 3.649298246 1.216432749 3 NA NA 0 NA NA 1 4 NA 1 1 2.25E-26 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 110365274 A C PAK3 CCDS48153.1 r.? - - intronic 29 0 0 24 11 45.8 28 8 28.6 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.587881489 1.587881489 1 2.50877193 1.254385965 2 NA NA 0 NA NA 1 4 NA 1 1 1.15E-19 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 110369370 G A SEC24B CCDS47124.1 r.? - - intronic 49 0 0 43 8 18.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.92851497 0.92851497 1 1.462740264 1.462740264 1 NA NA 1 NA NA 0 4 NA 1 1 4.85E-11 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 110397612 C T - - - - - - 19 0 0 46 6 13 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 110401804 C T - - - - - - 39 0 0 64 41 64.1 40 14 35 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 4.481882236 1.120470559 4 4.292138772 0.955651152 4.491323809 NA NA 1 NA NA 0 4 NA 1 1 5.96E-78 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 45118495 G C - - - - - - 33 0 0 29 18 62.1 11 2 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 3.100041916 1.550020958 2 1.831930039 1.831930039 1 NA NA 1 NA NA 0 4 NA 1 1 1.25E-34 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 110436957 A G PKHD1L1 CCDS47911.1 r.? - - intronic 61 0 0 44 5 11.4 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.56908982 0.56908982 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 110509925 A G - - - - - - 45 0 0 23 4 17.4 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.694610778 0.694610778 1 0.366245614 0.366245614 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000513 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 110568684 A C ARHGAP20 CCDS31673.1 r.? - - intronic 40 0 0 54 6 11.1 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.776113772 0.776113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 110574134 C G ARHGAP20 CCDS31673.1 r.? - - intronic 45 0 0 53 11 20.8 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.454339321 1.454339321 1 1.802698284 1.802698284 1 NA NA 0 NA NA 1 4 NA 1 1 3.07E-15 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 51030518 G T ENSG00000138600 CCDS10138.1 r.? - - intronic 22 0 0 30 8 26.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.332868263 1.332868263 1 1.862126688 1.862126688 1 NA NA 1 NA NA 0 4 NA 1 1 2.07E-12 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 110835311 C T EGF CCDS3689.1 r.? - - intronic 44 0 0 62 19 30.6 52 6 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.527556886 0.763778443 2 1.044814474 1.044814474 1 NA NA 1 NA NA 0 4 NA 1 1 6.66E-29 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 110840372 G A - - - - - - 46 0 0 38 8 21.1 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.053315369 1.053315369 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 110902699 G T IMMP2L CCDS5753.1 r.? - - intronic 66 0 0 48 16 33.3 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 0.894070175 0.894070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.96E-25 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 110934385 A G ALG13 CCDS14559.1 r.? - - downstream 42 0 0 27 8 29.6 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.026229085 1.026229085 1 1.921052632 1.921052632 1 NA NA 0 NA NA 1 4 NA 1 1 7.97E-13 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 111003883 C T COL4A2 CCDS41907.1 r.? - - intronic 41 0 0 60 6 10 36 0 0 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 0.000000621 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 54456539 G T UNC13C CCDS45264.1 r.? - - intronic 58 0 0 49 11 22.4 25 0 0 57 0 0 596 108 18.1 603 45 7.5 8.44E-25 TRUE TRUE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.118211577 1.118211577 1 0 0 1 0.90355489 0.90355489 1 0.754916225 0.754916225 1 3 3 1 1 1.19E-15 3.56E-129 1 3.73E-37 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 12 111151323 G A - - - - - - 35 0 0 55 12 21.8 51 5 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.166240978 1.166240978 1 0.957649123 0.957649123 1 NA NA 0 NA NA 1 4 NA 1 1 8.78E-17 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 111193612 T G IMMP2L CCDS5753.1 r.? - - intronic 58 0 0 51 9 17.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.05459481 1.05459481 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.92E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 111291416 A G CD96 CCDS2959.1 r.? - - intronic 58 0 0 57 15 26.3 45 10 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.406037127 1.406037127 1 2.613368421 0.871122807 3 NA NA 0 NA NA 1 4 NA 1 1 5.53E-22 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 104959252 G A - - - - - - 49 0 0 43 8 18.6 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.11451497 1.11451497 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-11 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 111311128 A C - - - - - - 57 0 0 38 11 28.9 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.153692615 1.153692615 1 3.382385965 1.127461988 3 NA NA 0 NA NA 1 4 NA 1 1 5.19E-17 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 111346114 G A RPF2 CCDS5088.1 r.? - - intronic 35 0 0 23 5 21.7 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.866267465 0.866267465 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.75E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 54546194 C T UNC13C CCDS45264.1 r.? - - intronic 47 0 0 51 11 21.6 48 2 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.078275449 1.078275449 1 0.422753086 0.422753086 1 NA NA 1 NA NA 0 4 NA 1 1 1.94E-15 1 0.024220359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 111368525 C T DOCK4 CCDS47688.1 r.5963g>a c.5706G>A p.P1902P silent 14 0 0 36 9 25 11 1 9.1 151 0 0 68 21 30.9 58 12 20.7 5.82E-13 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 0.980245614 0.980245614 1 1.851532934 0.925766467 2 2.229789474 1.114894737 2 4 3 1 1 1.63E-13 7.15E-32 0.05364542 1.76E-16 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 15 56601559 G T - - - - - - 55 0 0 42 9 21.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.068291417 1.068291417 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 7.51E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 111407956 G A LAYN CCDS31676.1 r.? - - upstream 57 0 0 68 22 32.4 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 2.265413174 1.132706587 2 2.624336277 1.053390277 2.491323809 NA NA 1 NA NA 0 4 NA 1 1 7.67E-34 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 111409813 A G LAYN CCDS31676.1 r.? - - upstream 56 0 0 51 9 17.6 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.23059481 1.23059481 1 0.355634355 0.355634355 1 NA NA 0 NA NA 0 4 NA 1 1 4.92E-12 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 111557117 C A - - - - - - 51 0 0 50 7 14 49 0 0 75 0 0 298 14 4.7 282 0 0 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.698882236 0.698882236 1 0 NA 0 0.23462475 0.23462475 1 0 NA 0 NA NA 1 1 6.46E-09 5.95E-10 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 4 111557912 T G PITX2 CCDS3692.1 r.? - - intronic 20 0 0 38 9 23.7 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.183107784 1.183107784 1 0.436096476 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.79E-13 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 111589851 C T PHLDB2 CCDS46886.1 r.? - - intronic 47 0 0 51 10 19.6 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.047845159 1.047845159 1 1.624526316 1.624526316 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-13 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 111652939 A G REV3L CCDS5091.2 r.8429u>c c.7974T>C p.D2658D silent 30 0 0 30 7 23.3 31 4 12.9 128 0 0 125 23 18.4 119 10 8.4 3.95E-07 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.930139721 0.930139721 1 1.131578947 1.131578947 1 0.734530938 0.734530938 1 0.736842105 0.736842105 1 4 3 1 1 1.44E-10 5.53E-29 0.0000177 6.33E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 5 111672597 C T EPB41L4A CCDS43350.1 r.? - - intronic 52 0 0 32 13 40.6 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.620758483 0.810379242 2 1.035087719 1.035087719 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-22 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 111735815 G T CTNNAL1 CCDS6775.1 r.? - - intronic 31 0 0 21 4 19 18 8 44.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.758483034 0.758483034 1 4.782736842 1.594245614 3 NA NA 0 NA NA 1 4 NA 1 1 0.00000349 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 111753928 A T - - - - - - 51 0 0 38 12 31.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 2.43445614 1.21722807 2 NA NA 1 NA NA 1 4 NA 1 1 5.86E-19 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 111808656 A T DOCK4 CCDS47688.1 r.? - - intronic 48 0 0 33 9 27.3 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 1.635820359 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 111843703 C G SH2B3 CCDS9153.1 r.? - - upstream 11 0 0 25 6 24 3 1 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.283935022 1.283935022 1 3.254052632 3.254052632 1 NA NA 0 NA NA 0 4 NA 1 1 2.55E-09 1 0.014925125 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 111846529 C A DOCK4 CCDS47688.1 r.? - - upstream 21 0 0 36 10 27.8 12 4 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.665780439 1.665780439 1 3.587052632 1.793526316 2 NA NA 1 NA NA 1 4 NA 1 1 2.21E-15 1 0.0000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 111917664 G T C9orf4 CCDS35098.1 r.? - - intronic 46 0 0 36 7 19.4 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 111939065 G A - - - - - - 53 0 0 35 14 40 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 0.798403194 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.28E-23 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 112018745 G T MXI1 CCDS7563.1 r.? - - intronic 59 0 0 40 10 25 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 0.298245614 0.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-15 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 112054529 G C - - - - - - 17 0 0 47 14 29.8 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-21 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 112155267 C G - - - - - - 39 0 0 43 14 32.6 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 1.701964912 1.701964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 112188475 G T PTPN3 CCDS48001.1 r.? - - intronic 51 0 0 25 7 28 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.117764471 1.117764471 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.47E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 112202098 C G BTLA CCDS33819.1 r.? - - intronic 29 0 0 32 10 31.2 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.667998417 1.667998417 1 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 5.70E-16 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 112202412 C T - - - - - - 57 0 0 48 10 20.8 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.038339321 1.038339321 1 1.249258499 1.249258499 1 NA NA 1 NA NA 0 4 NA 1 1 5.37E-14 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 112208804 G T ALDH2 CCDS9155.1 r.? - - intronic 45 0 0 44 15 34.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.824257676 0.912128838 2 2.667736842 1.333868421 2 NA NA 1 NA NA 1 4 NA 1 1 6.12E-24 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 112208805 A T ALDH2 CCDS9155.1 r.? - - intronic 45 0 0 44 15 34.1 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.824257676 0.912128838 2 2.364807018 1.182403509 2 NA NA 1 NA NA 0 4 NA 1 1 6.12E-24 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 112227599 G T AP002841.2 ENST00000504610 r.? - - intronic 40 0 0 38 18 47.4 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 3.314215569 1.104738523 3 2.109279625 2.109279625 1 NA NA 1 NA NA 0 4 NA 1 1 1.16E-31 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 112275007 G T ENSG00000204398 ENST00000375713 r.? - - intronic 26 0 0 46 21 45.7 13 3 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.738351297 1.369175649 2 2.488315789 2.488315789 1 NA NA 1 NA NA 1 4 NA 1 1 2.94E-36 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 112312986 T C - - - - - - 57 0 0 52 16 30.8 51 13 25.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.537540918 0.768770459 2 2.395194866 1.197597433 2 NA NA 1 NA NA 0 4 NA 1 1 1.33E-24 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 112339426 G A - - - - - - 43 0 0 38 19 50 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.674864628 1.1345165 2.357713288 2.521157895 1.260578947 2 NA NA 0 NA NA 0 4 NA 1 1 6.16E-34 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 112371494 G A - - - - - - 58 0 0 42 6 14.3 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.764499274 0.764499274 1 0.282526316 0.282526316 1 NA NA 0 NA NA 1 4 NA 1 1 7.02E-08 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 112410943 G A - - - - - - 54 0 0 54 23 42.6 39 11 28.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.277459377 1.138729688 2 3.319684211 1.106561404 3 NA NA 0 NA NA 1 4 NA 1 1 1.12E-38 1 7.20E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 58054140 C T - - - - - - 63 0 0 72 8 11.1 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 3.293619843 4 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.776113772 0.776113772 1 0.754916225 0.754916225 1 NA NA 1 NA NA 0 4 NA 1 1 3.52E-09 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 112481113 A T - - - - - - 70 0 0 49 4 8.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.409345309 0.409345309 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 58855320 G T LIPC CCDS10166.1 r.? - - intronic 39 0 0 62 8 12.9 24 0 0 0 0 NA 1 0 0 0 0 NA 1 FALSE FALSE 5 3.293619843 4 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.90197006 0.90197006 1 0 NA 0 0 0 1 NA NA 0 NA NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 112628925 G A - - - - - - 37 0 0 43 8 18.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.11451497 1.11451497 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.85E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 112638755 C T - - - - - - 43 0 0 52 10 19.2 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.342467066 1.342467066 1 2.256438668 0.905718743 2.491323809 NA NA 1 NA NA 1 4 NA 1 1 1.28E-13 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 112657262 C T - - - - - - 17 0 0 45 14 31.1 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.863516966 0.931758483 2 1.874315789 1.874315789 1 NA NA 1 NA NA 1 4 NA 1 1 8.81E-22 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 112720862 T A - - - - - - 59 0 0 33 5 15.2 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.758786427 0.758786427 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 112749154 A T MERTK CCDS2094.1 r.? - - intronic 38 0 0 51 19 37.3 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.282951074 1.07256521 2.128496294 2.822245614 1.411122807 2 NA NA 1 NA NA 1 4 NA 1 1 7.94E-31 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 112768886 C T - - - - - - 65 0 0 49 7 14.3 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.58E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 112800237 G A - - - - - - 39 0 0 47 19 40.4 56 16 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.016774451 1.008387226 2 2.686375418 1.343187709 2 NA NA 1 NA NA 0 4 NA 1 1 1.16E-31 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 61045760 G A RORA CCDS10177.1 r.? - - intronic 55 0 0 52 10 19.2 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.958467066 0.958467066 1 1.308521457 1.308521457 1 NA NA 1 NA NA 0 4 NA 1 1 1.28E-13 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 112850309 G T - - - - - - 43 0 0 52 15 28.8 21 4 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.539690846 0.935489114 1.645867197 2.236666667 2.236666667 1 NA NA 0 NA NA 1 4 NA 1 1 1.15E-22 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 112859646 G T - - - - - - 48 0 0 52 14 26.9 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.342852295 1.342852295 1 1.106561404 1.106561404 1 NA NA 0 NA NA 1 4 NA 1 1 9.04E-21 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 112889741 C G PALM2-AKAP2 CCDS35100.1 r.? - - intronic 20 0 0 25 6 24 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.958083832 0.958083832 1 0.387789474 0.387789474 1 NA NA 0 NA NA 1 4 NA 1 1 2.55E-09 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 112898350 T G - - - - - - 55 0 0 47 5 10.6 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 0.620122934 0.620122934 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 62731199 C G - - - - - - 56 0 0 47 7 14.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.743810379 0.743810379 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 4.12E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 112990694 C G - - - - - - 51 0 0 47 11 23.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.402131737 1.402131737 1 2.240561404 2.240561404 1 NA NA 1 NA NA 1 4 NA 1 1 7.21E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 113014080 T C - - - - - - 49 0 0 35 8 22.9 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.372171657 1.372171657 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 8.15E-12 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113049081 C T - - - - - - 45 0 0 50 17 34 44 10 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 1.989073562 0.994536781 2 2.132193077 1.066096538 2 NA NA 1 NA NA 0 4 NA 1 1 6.43E-27 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 113105671 G T - - - - - - 43 0 0 35 9 25.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.025948104 1.025948104 1 2.531403509 0.84380117 3 NA NA 0 NA NA 1 4 NA 1 1 1.23E-13 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 113150827 A G SVEP1 CCDS48004.1 r.? - - intronic 22 0 0 31 5 16.1 15 5 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.642714571 0.642714571 1 3.587052632 1.195684211 3 NA NA 0 NA NA 1 4 NA 1 1 0.000000476 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 113188941 T C SVEP1 CCDS48004.1 r.? - - intronic 42 0 0 25 4 16 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.638722555 0.638722555 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 113191531 T C - - - - - - 49 0 0 32 5 15.6 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113199579 C A - - - - - - 53 0 0 56 6 10.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 0.625973151 0.625973151 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000409 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 67363773 C A SMAD3 CCDS10222.1 r.? - - intronic 37 0 0 46 9 19.6 39 0 0 217 0 0 179 41 22.9 183 4 2.2 0.112609638 TRUE TRUE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.97843513 0.97843513 1 0 0 1 1.143171657 1.143171657 1 0.221442093 0.75417959 0.293619843 3 3 1 1 1.82E-12 1.12E-54 1 0.013946145 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 15 70892744 G T - - - - - - 42 0 0 28 4 14.3 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.713858283 0.713858283 1 1.006554967 1.006554967 1 NA NA 0 NA NA 0 4 NA 1 1 0.0000116 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 113330283 T A SVEP1 CCDS48004.1 r.? - - intronic 45 0 0 30 6 20 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 0.323157895 0.323157895 1 NA NA 0 NA NA 1 4 NA 1 1 8.37E-09 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 113341033 C T SIDT1 CCDS2974.1 r.? - - intronic 45 0 0 47 13 27.7 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.48088321 1.48088321 1 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-19 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 113373866 G A ATP11A CCDS32011.1 r.? - - intronic 41 0 0 52 10 19.2 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.150467066 1.150467066 1 1.228 1.228 1 NA NA 1 NA NA 1 4 NA 1 1 1.28E-13 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 113414795 C T - - - - - - 51 0 0 50 6 12 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.839041916 0.839041916 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 113427121 C G - - - - - - 35 0 0 23 9 39.1 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.355593149 1.355593149 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.50E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113428164 C A CSMD3 CCDS6315.1 r.? - - intronic 62 0 0 51 11 21.6 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 1.263646734 1.263646734 1 0.986256709 0.986256709 1 NA NA 0 NA NA 0 4 NA 1 1 1.94E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 113436662 C T - - - - - - 50 0 0 56 16 28.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.999716567 0.999858283 2 2.624336277 1.053390277 2.491323809 NA NA 1 NA NA 1 4 NA 1 1 5.26E-24 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 113445069 T A NAA50 CCDS2975.1 r.? - - intronic 48 0 0 43 15 34.9 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.865805921 0.932902961 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 4.05E-24 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 113446131 A T - - - - - - 17 0 0 48 5 10.4 30 0 0 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.636533275 0.636533275 1 0 0 1 NA NA 0 0 0 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113452871 C T CSMD3 CCDS6315.1 r.? - - intronic 40 0 0 50 6 12 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 0.702025963 0.702025963 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 113524162 T G CKAP2L CCDS2100.1 r.? - - upstream 50 0 0 58 13 22.4 46 12 26.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.370994747 1.370994747 1 2.811473684 1.405736842 2 NA NA 1 NA NA 1 4 NA 1 1 3.12E-18 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113559357 A C CSMD3 CCDS6315.1 r.? - - intronic 39 0 0 56 11 19.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 1.146642407 1.146642407 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.91E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 113566372 G A GRAMD1C CCDS33826.1 r.? - - intronic 49 0 0 42 16 38.1 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.036882682 1.018441341 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 2.25E-26 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 113580262 C A PPP1R3A ENST00000449795 r.? - - intronic 57 0 0 62 14 22.6 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.354195609 1.354195609 1 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 1.42E-19 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113586137 C T CSMD3 CCDS6315.1 r.? - - intronic 48 0 0 49 10 20.4 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 1.193444137 1.193444137 1 0.760826604 0.760826604 1 NA NA 1 NA NA 0 4 NA 1 1 6.72E-14 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 113604150 G C - - - - - - 22 0 0 32 8 25 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.248003992 1.248003992 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.69E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 113688457 C A PPP1R3A ENST00000449795 r.? - - intronic 44 0 0 39 11 28.2 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.689748503 0.844874251 2 1.464982456 1.464982456 1 NA NA 1 NA NA 1 4 NA 1 1 7.20E-17 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 113840061 T A - - - - - - 60 0 0 38 10 26.3 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.406037127 1.406037127 1 1.589210526 1.589210526 1 NA NA 0 NA NA 1 4 NA 1 1 4.06E-15 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113897012 G A CSMD3 CCDS6315.1 r.? - - intronic 61 1 1.6 40 11 27.5 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.372804391 1.372804391 1 0.760826604 0.760826604 1 NA NA 1 NA NA 0 4 NA 0.263440347 1 9.88E-17 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 113901690 G C - - - - - - 56 0 0 33 4 12.1 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.604033932 0.604033932 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000228 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 113978139 T C - - - - - - 60 0 0 54 22 40.7 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.17588255 1.087941275 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.60E-36 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 114016813 G A - - - - - - 46 0 0 38 24 63.2 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.522954092 1.261477046 2 1.350877193 1.350877193 1 NA NA 1 NA NA 1 4 NA 1 1 5.39E-46 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 114023103 G T ZBTB16 CCDS8367.1 r.? - - intronic 51 0 0 90 10 11.1 49 7 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.776113772 0.776113772 1 1.75364527 1.75364527 1 NA NA 1 NA NA 0 4 NA 1 1 3.88E-11 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 114060489 C G MAGI3 CCDS860.1 r.? - - intronic 50 0 0 42 5 11.9 33 0 0 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.5940499 0.5940499 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 114062700 T C ANK2 CCDS3702.1 r.? - - intronic 50 0 0 44 13 29.5 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.472644711 1.472644711 1 0.972131728 0.972131728 1 NA NA 1 NA NA 0 4 NA 1 1 5.49E-20 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 114147767 G A FOXP2 CCDS43635.1 r.? - - intronic 49 0 0 54 25 46.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.774303393 1.387151697 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 4.36E-43 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 40515116 C T - - - - - - 48 0 0 40 17 42.5 32 11 34.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.696606786 0.848303393 2 3.01754386 1.50877193 2 NA NA 1 NA NA 1 4 NA 1 1 6.07E-29 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114170005 C T - - - - - - 31 0 0 35 7 20 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.069945851 1.069945851 1 1.260578947 1.260578947 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 114217367 C T CSMD3 CCDS6315.1 r.? - - intronic 53 0 0 43 18 41.9 42 13 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.091654691 1.045827345 2 2.911805523 1.455902762 2 NA NA 1 NA NA 0 4 NA 1 1 2.06E-30 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 114234050 C A ZBTB20 CCDS2981.1 r.? - - intronic 57 0 0 38 8 21.1 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.128037391 1.128037391 1 0.623912281 0.623912281 1 NA NA 0 NA NA 1 4 NA 1 1 1.67E-11 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 114266051 A T CSMD3 CCDS6315.1 r.? - - intronic 39 0 0 42 5 11.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.5940499 0.5940499 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114295236 A G RBM19 CCDS9172.1 r.? - - intronic 19 0 0 45 8 17.8 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.952251808 0.952251808 1 1.172631579 1.172631579 1 NA NA 1 NA NA 0 4 NA 1 1 7.14E-11 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 75084587 C A CSK CCDS10269.1 r.? - - intronic 31 0 0 44 16 36.4 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.817093812 0.908546906 2 0.30196649 0.30196649 1 NA NA 1 NA NA 0 4 NA 1 1 5.57E-26 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 114304374 T A FOXP2 CCDS43635.1 r.2335u>a c.1961T>A p.L654Q missense 38 0 0 51 5 9.8 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.587217565 0.587217565 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 76334037 G T - - - - - - 53 0 0 30 11 36.7 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.83206986 0.91603493 2 3.120320397 1.360434863 2.293619843 NA NA 1 NA NA 0 4 NA 1 1 2.44E-18 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 114326022 G A FOXP2 CCDS43635.1 r.? - - intronic 46 0 0 35 13 37.1 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.223037924 1.111518962 2 1.497298246 1.497298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.63E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 114328131 T C - - - - - - 58 0 0 40 4 10 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.612051226 0.612051226 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114431204 G A - - - - - - 41 0 0 48 6 12.5 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.668716157 0.668716157 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114437210 C T - - - - - - 34 0 0 49 8 16.3 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.872005869 0.872005869 1 0.371333333 0.371333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 114477991 G T - - - - - - 45 0 0 62 11 17.7 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.237586826 1.237586826 1 0.613162682 0.613162682 1 NA NA 1 NA NA 0 4 NA 1 1 1.96E-14 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 114552468 G A PGGT1B CCDS4116.1 r.? - - intronic 43 1 2.3 30 14 46.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.864271457 0.932135729 2 1.649122807 1.649122807 1 NA NA 1 NA NA 1 4 NA 0.193893409 1 8.24E-25 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 79562398 A T - - - - - - 65 0 0 42 16 38.1 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.901958084 0.950979042 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.25E-26 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 114665449 C T - - - - - - 37 0 0 66 19 28.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 2.013700599 1.006850299 2 2.158332639 1.07916632 2 NA NA 1 NA NA 1 4 NA 1 1 2.64E-28 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 114733533 T C - - - - - - 42 0 0 34 8 23.5 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.938123752 0.938123752 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.32E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 81986630 T C - - - - - - 42 0 0 41 18 43.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 2.19149501 1.095747505 2 2.174158728 0.947915905 2.293619843 NA NA 0 NA NA 1 4 NA 1 1 6.91E-31 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 114770774 T C - - - - - - 47 0 0 35 7 20 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.998403194 0.998403194 1 0.319359315 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.65E-10 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 114806638 C A TBX5 CCDS9173.1 r.? - - intronic 29 0 0 39 8 20.5 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.096694498 1.096694498 1 0.723122807 0.723122807 1 NA NA 1 NA NA 0 4 NA 1 1 2.09E-11 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 115024651 A C - - - - - - 47 0 0 55 20 36.4 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.181093812 1.090546906 2 3.016140351 1.508070175 2 NA NA 1 NA NA 1 4 NA 1 1 4.08E-32 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115036060 T C - - - - - - 39 0 0 47 15 31.9 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.952443412 0.976221706 2 1.658877193 1.658877193 1 NA NA 1 NA NA 0 4 NA 1 1 1.97E-23 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 115084639 T C - - - - - - 50 0 0 43 14 32.6 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 115095847 C A - - - - - - 44 0 0 40 6 15 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.802459388 0.802459388 1 0.977192982 0.977192982 1 NA NA 1 NA NA 0 4 NA 1 1 5.18E-08 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 115113472 T A - - - - - - 47 0 0 47 16 34 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.697285429 0.848642715 2 1.784654998 1.784654998 1 NA NA 1 NA NA 0 4 NA 1 1 1.98E-25 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 88315706 C A - - - - - - 50 0 0 45 7 15.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.778754491 0.778754491 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000003 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 115138212 T A - - - - - - 24 0 0 47 10 21.3 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.139492332 1.139492332 1 0.371333333 0.371333333 1 NA NA 1 NA NA 1 4 NA 1 1 4.27E-14 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 115177781 A C HSDL2 CCDS43864.1 r.? - - intronic 43 0 0 22 3 13.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.542914172 0.542914172 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000179267 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115186855 G T - - - - - - 48 0 0 31 16 51.6 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.57588024 1.28794012 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.27E-29 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 115190914 C G - - - - - - 49 0 0 40 5 12.5 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.624001996 0.624001996 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 115221238 C G AMPD1 CCDS876.1 r.? - - intronic 44 0 0 53 20 37.7 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.88199002 0.94099501 2 3.484491228 1.161497076 3 NA NA 0 NA NA 1 4 NA 1 1 1.65E-32 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 115254227 C G - - - - - - 43 0 0 41 13 31.7 28 10 35.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.582469062 0.791234531 2 3.353272812 1.676636406 2 NA NA 1 NA NA 0 4 NA 1 1 1.89E-20 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 115265809 C T - - - - - - 39 0 0 29 6 20.7 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.826347305 0.826347305 1 0.675438596 0.675438596 1 NA NA 1 NA NA 1 4 NA 1 1 6.72E-09 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 115287401 G C - - - - - - 34 0 0 40 13 32.5 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.737498351 1.05567348 1.645867197 2.67222807 0.89074269 3 NA NA 0 NA NA 1 4 NA 1 1 1.30E-20 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115326923 G A DPP10 CCDS46400.1 r.? - - intronic 44 0 0 52 13 25 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.530128065 1.530128065 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 6.47E-19 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 115404309 T C - - - - - - 62 0 0 52 15 28.8 39 12 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.437700599 1.437700599 1 2.893019681 1.44650984 2 NA NA 1 NA NA 0 4 NA 1 1 1.15E-22 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115407966 G A DPP10 CCDS46400.1 r.? - - intronic 42 0 0 43 10 23.3 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.426079357 1.426079357 1 1.432666667 1.432666667 1 NA NA 1 NA NA 0 4 NA 1 1 1.61E-14 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115450089 G T - - - - - - 43 0 0 34 6 17.6 32 0 0 192 0 0 331 29 8.8 281 0 0 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.87859481 0.87859481 1 0 NA 0 0.439297405 0.439297405 1 0 NA 0 NA NA 1 1 1.86E-08 1.64E-26 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 11 115497516 T C - - - - - - 43 0 0 55 33 60 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 4.195209581 1.048802395 4 4.08366346 1.020915865 4 NA NA 1 NA NA 1 4 NA 1 1 1.36E-61 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115505485 G C DPP10 CCDS46400.1 r.? - - intronic 48 0 0 57 5 8.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.538605079 0.538605079 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115599620 G T DPP10 CCDS46400.1 r.? - - intronic 42 0 0 66 22 33.3 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.038130583 1.019065292 2 1.012561404 1.012561404 1 NA NA 1 NA NA 1 4 NA 1 1 3.52E-34 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115645158 A T - - - - - - 41 0 0 35 4 11.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.56908982 0.56908982 1 0.626888684 0.626888684 1 NA NA 1 NA NA 0 4 NA 1 1 0.0000289 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 93861832 C G - - - - - - 39 0 0 45 8 17.8 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.888578842 0.888578842 1 0.322097589 0.322097589 1 NA NA 1 NA NA 0 4 NA 1 1 7.14E-11 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115708254 A T - - - - - - 47 0 0 38 10 26.3 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.3129002 1.3129002 1 0.75408349 0.75408349 1 NA NA 1 NA NA 0 4 NA 1 1 4.06E-15 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115712470 G A - - - - - - 32 0 0 34 5 14.7 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.733826347 0.733826347 1 0.381584417 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000771 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 115730007 C A DPP10 CCDS46400.1 r.? - - intronic 73 0 0 39 6 15.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.942558888 0.942558888 1 1.346491228 1.346491228 1 NA NA 0 NA NA 1 4 NA 1 1 4.43E-08 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115869070 C T NDST4 CCDS3706.1 r.? - - intronic 59 0 0 33 20 60.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 3.025161677 1.512580838 2 1.208350653 1.208350653 1 NA NA 1 NA NA 0 4 NA 1 1 5.14E-38 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 115877538 C T NDST4 CCDS3706.1 r.? - - intronic 43 0 0 46 16 34.8 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.737221557 0.868610778 2 0.626888684 0.626888684 1 NA NA 1 NA NA 0 4 NA 1 1 1.31E-25 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 115901358 G A - - - - - - 38 0 0 37 7 18.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.754491018 0.754491018 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.05E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 116018366 G A - - - - - - 44 0 0 64 7 10.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.762129741 0.762129741 1 1.410274168 1.410274168 1 NA NA 1 NA NA 0 4 NA 1 1 3.78E-08 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 95254012 T A - - - - - - 27 0 0 36 13 36.1 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.802117764 0.901058882 2 1.389045854 1.389045854 1 NA NA 1 NA NA 1 4 NA 1 1 2.53E-21 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 47438167 G A MDGA2 CCDS41948.1 r.? - - intronic 47 0 0 25 5 20 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000153 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 96627379 G A - - - - - - 30 0 0 40 12 30 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 1.49760479 1.49760479 1 1.258193708 1.258193708 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-18 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 75693231 G A - - - - - - 30 0 0 26 5 19.2 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.766467066 0.766467066 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000188 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116110243 A G DPP10 CCDS46400.1 r.? - - intronic 55 0 0 44 10 22.7 48 5 10.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.389356283 1.389356283 1 1.120280702 1.120280702 1 NA NA 1 NA NA 0 4 NA 1 1 2.08E-14 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 116140372 C A - - - - - - 48 0 0 48 9 18.8 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.938499002 0.938499002 1 1.259596491 1.259596491 1 NA NA 0 NA NA 1 4 NA 1 1 2.75E-12 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 116141388 C T - - - - - - 54 0 0 37 8 21.6 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.078275449 1.078275449 1 0.460253131 0.460253131 1 NA NA 1 NA NA 0 4 NA 1 1 1.33E-11 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 116178459 C A LSAMP ENST00000474851 r.? - - intronic 44 0 0 37 5 13.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.721730084 0.721730084 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 116209997 G A - - - - - - 30 0 0 46 14 30.4 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 2.125572854 1.062786427 2 3.629923075 1.039698199 3.491323809 NA NA 0 NA NA 0 4 NA 1 1 1.26E-21 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 99558137 G T - - - - - - 22 0 0 35 4 11.4 6 0 0 38 0 0 13 2 15.4 10 0 0 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.56908982 0.56908982 1 0 0 1 0.768770459 0.768770459 1 0 NA 0 4 NA 1 1 0.0000289 0.001879825 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116224570 C T DPP10 CCDS46400.1 r.? - - intronic 44 0 0 43 16 37.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.276830561 1.0696897 2.128496294 1.701964912 1.701964912 1 NA NA 0 NA NA 1 4 NA 1 1 3.56E-26 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116231564 G A DPP10 CCDS46400.1 r.? - - intronic 44 0 0 43 14 32.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.995286997 0.997643499 2 2.305192982 1.152596491 2 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 116281004 C T - - - - - - 31 0 0 22 8 36.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 1.350877193 1.350877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-13 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 116287572 C T - - - - - - 35 0 0 42 11 26.2 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.307908184 1.307908184 1 1.09024119 1.09024119 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-16 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 116299974 G T LSAMP ENST00000474851 r.? - - intronic 50 0 0 39 4 10.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.550653323 0.550653323 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 116322297 C A - - - - - - 51 0 0 26 9 34.6 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.381237525 1.381237525 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.65E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 116387019 G A - - - - - - 19 0 0 22 8 36.4 18 1 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.453093812 1.453093812 1 0.60322807 0.60322807 1 NA NA 0 NA NA 1 4 NA 1 1 1.17E-13 1 0.086275114 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 116402409 G T - - - - - - 45 0 0 57 6 10.5 44 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.734161677 0.734161677 1 0.282054834 0.282054834 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000456 1 0.197923942 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 116480030 G C - - - - - - 46 0 0 19 8 42.1 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.680638723 1.680638723 1 1.570175439 1.570175439 1 NA NA 1 NA NA 1 4 NA 1 1 2.81E-14 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116483628 T C DPP10 CCDS46400.1 r.? - - intronic 53 0 0 45 7 15.6 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.954799913 0.954799913 1 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000003 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 116490456 T A TRPS1 CCDS6318.2 r.? - - intronic 53 0 0 34 8 23.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.173123752 1.173123752 1 1.305616025 1.305616025 1 NA NA 1 NA NA 0 4 NA 1 1 6.32E-12 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 116560732 G A - - - - - - 54 0 0 25 12 48 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.396167665 1.198083832 2 1.09024119 1.09024119 1 NA NA 1 NA NA 0 4 NA 1 1 1.20E-21 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 2956656 C T - - - - - - 24 0 0 49 32 65.3 34 15 44.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.835011195 5 5 4 0 1 0.164988805 1 5 NA 1 NA 0.835011195 NA 5.111048737 1.022209747 5 5.191421053 1.297855263 4 NA NA 0 NA NA 0 4 NA 1 1 1.39E-61 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 116596563 T C - - - - - - 49 0 0 29 9 31 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.074766947 1.074766947 1 1.096491228 1.096491228 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-14 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 116693544 A T ST7OT3 CCDS5770.1 r.? - - intronic 48 0 0 59 5 8.5 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.509321357 0.509321357 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 116723830 C T TRPS1 ENST00000422939 r.? - - intronic 59 0 0 40 8 20 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.998403194 0.998403194 1 1.108364683 1.108364683 1 NA NA 1 NA NA 0 4 NA 1 1 2.61E-11 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 116770721 G A - - - - - - 39 0 0 36 15 41.7 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 2.081670659 1.040835329 2 0.972131728 0.972131728 1 NA NA 1 NA NA 0 4 NA 1 1 1.54E-25 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 116778001 C G ST7OT3 CCDS5770.1 r.? - - intronic 65 0 0 42 8 19 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 1.378807018 1.378807018 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-11 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 116778741 C T - - - - - - 65 0 0 23 15 65.2 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.602794411 1.301397206 2 1.219298246 1.219298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-29 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 116825197 A G LSAMP ENST00000474851 r.? - - intronic 46 0 0 36 18 50 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 2.673074386 1.336537193 2 1.812877193 1.812877193 1 NA NA 0 NA NA 1 4 NA 1 1 3.18E-32 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 7403966 T A ENSG00000078328 CCDS45405.1 r.? - - intronic 49 0 0 44 8 18.2 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.090546906 1.090546906 1 1.413406414 1.413406414 1 NA NA 0 NA NA 0 4 NA 1 1 5.90E-11 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 116944160 G C - - - - - - 39 0 0 55 20 36.4 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.227866463 1.04668562 2.128496294 1.454210526 1.454210526 1 NA NA 0 NA NA 1 4 NA 1 1 4.08E-32 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 116981792 T G - - - - - - 50 0 0 19 10 52.6 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.82363682 1.236385586 1.474974183 2.807017544 1.403508772 2 NA NA 0 NA NA 1 4 NA 1 1 8.66E-19 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 116995532 T C - - - - - - 46 0 0 27 12 44.4 24 7 29.2 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 2.561403509 1.280701754 2 3.992015968 3.992015968 1 NA NA 1 4 NA 1 1 3.96E-21 0.000025 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 117034280 T A PAFAH1B2 CCDS8380.1 r.? - - intronic 34 0 0 40 8 20 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.398403194 1.398403194 1 0.441477131 0.441477131 1 NA NA 0 NA NA 0 4 NA 1 1 2.61E-11 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 117039940 C T - - - - - - 51 0 0 42 8 19 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.015768267 1.015768267 1 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 3.96E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 117092503 C G PCSK7 CCDS8382.1 r.? - - intronic 40 0 0 51 12 23.5 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.643123752 0.821561876 2 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 3.24E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 117093024 A T AF130342.1 ENST00000505156 r.? - - intronic 63 0 0 34 5 14.7 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.733826347 0.733826347 1 1.070792999 1.070792999 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000771 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 117130547 C T CFTR CCDS5773.1 r.? - - intronic 37 0 0 52 19 36.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.187085828 1.093542914 2 2.229789474 1.114894737 2 NA NA 1 NA NA 1 4 NA 1 1 1.24E-30 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 117131502 C G - - - - - - 50 0 0 32 7 21.9 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.170806581 1.170806581 1 0.765175439 0.765175439 1 NA NA 0 NA NA 1 4 NA 1 1 2.36E-10 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 117276669 T C CFTR CCDS5773.1 r.? - - intronic 43 0 0 41 17 41.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.486686627 1.243343313 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-28 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 117288905 A T - - - - - - 46 0 0 35 4 11.4 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.697738398 0.697738398 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 117438357 C A - - - - - - 40 0 0 53 33 62.3 30 7 23.3 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 3.110025948 1.555012974 2 2.742859649 0.91428655 3 NA NA 0 0 0 1 4 NA 1 1 2.14E-62 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 117475015 G T - - - - - - 36 0 0 43 8 18.6 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.138415281 1.138415281 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.85E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 117476103 G A TESC CCDS9183.2 r.? - - downstream 22 0 0 32 6 18.8 13 2 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.0057491 1.0057491 1 1.504877193 1.504877193 1 NA NA 1 NA NA 0 4 NA 1 1 1.27E-08 1 0.001879825 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 117480723 C A - - - - - - 33 0 0 35 10 28.6 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.60E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 117512132 G A - - - - - - 23 0 0 43 15 34.9 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.136058779 1.003552971 2.128496294 3.920982456 1.960491228 2 NA NA 0 NA NA 0 4 NA 1 1 4.05E-24 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 117540374 G C - - - - - - 57 0 0 43 5 11.6 42 0 0 128 0 0 342 17 5 366 0 0 1 TRUE TRUE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.620153257 0.620153257 1 0 0 1 0.267307439 0.754822586 0.354132803 0 0 1 3 2 1 1 0.00000257 3.70E-12 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 7 117553080 A C - - - - - - 45 0 0 48 17 35.4 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 117597124 T A - - - - - - 30 0 0 54 29 53.7 47 20 42.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 2 4 2 0 0 0.597702642 1 5 NA 0 NA 0.402297358 NA 3.433746256 1.00924343 3.402297358 3.736842105 1.868421053 2 NA NA 0 NA NA 0 4 NA 1 1 2.78E-52 1 8.18E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 12747123 C T - - - - - - 45 0 0 55 15 27.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.635820359 0.81791018 2 2.343279055 0.987214134 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 3.01E-22 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 117677414 A T - - - - - - 42 0 0 40 5 12.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.624001996 0.624001996 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 117716542 C T VTCN1 CCDS894.1 r.? - - intronic 34 0 0 35 8 22.9 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.143171657 1.143171657 1 0.506192982 0.506192982 1 NA NA 0 NA NA 1 4 NA 1 1 8.15E-12 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 117762704 G A - - - - - - 29 0 0 46 9 19.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 2.391368421 1.195684211 2 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 117788426 G T - - - - - - 50 0 0 50 12 24 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.468922943 1.468922943 1 1.960491228 1.960491228 1 NA NA 1 NA NA 0 4 NA 1 1 2.49E-17 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 117835284 A G TNC CCDS6811.1 r.? - - intronic 41 0 0 29 7 24.1 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.962075848 0.962075848 1 0.323157895 0.323157895 1 NA NA 0 NA NA 1 4 NA 1 1 1.11E-10 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 117881284 G A - - - - - - 44 0 0 33 12 36.4 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.817093812 0.908546906 2 0.72682746 0.72682746 1 NA NA 1 NA NA 0 4 NA 1 1 7.86E-20 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 117888698 G C KSR2 ENST00000425217 r.? - - downstream 36 0 0 42 17 40.5 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 2.166640349 0.918958365 2.357713288 2.355035088 1.177517544 2 NA NA 1 NA NA 0 4 NA 1 1 1.73E-28 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 118007258 G C - - - - - - 53 0 0 44 13 29.5 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.577113888 1.577113888 1 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 5.49E-20 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 118014494 G C SCN4B CCDS8389.1 r.? - - intronic 51 0 0 47 10 21.3 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 1.489299401 1.489299401 1 0.625425935 0.625425935 1 NA NA 1 NA NA 0 4 NA 1 1 4.27E-14 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 118020150 C G - - - - - - 27 0 0 40 29 72.5 28 14 50 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.635877161 1.053058616 4.402297358 5.187724767 1.439627138 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 4.08E-58 1 2.29E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 118128483 T A MPZL2 CCDS8393.1 r.? - - intronic 52 0 0 52 7 13.5 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5.491323809 4 4 1 1 1 0.508676191 NA 5 NA 1 NA 0.491323809 0.943922156 0.943922156 1 1.447063929 1.447063929 1 NA NA 1 NA NA 1 4 NA 1 1 8.58E-09 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 118162329 G A - - - - - - 41 0 0 30 10 33.3 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.68E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 118179261 T G - - - - - - 60 0 0 39 4 10.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.617177645 0.617177645 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 118283343 T C - - - - - - 29 0 0 27 11 40.7 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.624750499 0.81237525 2 1.947368421 1.947368421 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-19 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 118342020 C T - - - - - - 47 0 0 47 6 12.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.638978044 0.638978044 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 118439016 G C SLC35F1 CCDS34524.1 r.? - - intronic 48 0 0 38 20 52.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.099800399 1.0499002 2 2.026315789 1.013157895 2 NA NA 1 NA NA 1 4 NA 1 1 2.94E-36 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 118452531 A G - - - - - - 53 0 0 36 9 25 14 4 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 3.08077193 1.026923977 3 NA NA 0 NA NA 1 4 NA 1 1 1.63E-13 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 118480335 C G - - - - - - 53 0 0 48 24 50 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.792797466 3.272960587 2 2 1 1 0.207202534 0.727039413 3 3 1 1 0.792797466 0.272960587 2.892406717 1.035666479 2.792797466 1.858304726 1.858304726 1 NA NA 0 NA NA 1 4 NA 1 1 1.71E-42 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 118496207 C A SPAG17 CCDS899.1 r.? - - downstream 52 0 0 36 8 22.2 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.108227545 1.108227545 1 0.729859649 0.729859649 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-11 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13117051 G T SHISA9 CCDS45417.1 r.? - - intronic 44 0 0 43 15 34.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.091213573 1.045606786 2 3.645100753 1.215033584 3 NA NA 0 NA NA 0 4 NA 1 1 4.05E-24 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 118535794 G A - - - - - - 63 0 0 48 14 29.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.749668663 0.874834331 2 1.701964912 1.701964912 1 NA NA 1 NA NA 1 4 NA 1 1 2.51E-21 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 13259729 A C SHISA9 CCDS45417.1 r.? - - intronic 48 0 0 44 16 36.4 51 10 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.181093812 1.090546906 2 2.430067168 1.02377762 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 5.57E-26 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 118685273 T C - - - - - - 58 0 0 60 10 16.7 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.792797466 3.272960587 2 2 1 1 0.207202534 0.727039413 3 3 1 1 0.792797466 0.272960587 0.966063843 0.966063843 1 0.361616055 0.361616055 1 NA NA 1 NA NA 1 4 NA 1 1 5.86E-13 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 118738821 C T - - - - - - 49 0 0 37 20 54.1 45 14 31.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.700680639 1.350340319 2 3.661070175 1.220356725 3 NA NA 0 NA NA 1 4 NA 1 1 1.40E-36 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 118814203 A T - - - - - - 62 0 0 44 6 13.6 47 4 8.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0.915614035 0.915614035 1 NA NA 1 NA NA 1 4 NA 1 1 9.37E-08 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 14022676 T C ERCC4 CCDS32390.1 r.? - - intronic 58 0 0 57 27 47.4 51 13 25.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.840215569 1.420107784 2 3.161566979 1.05385566 3 NA NA 0 NA NA 0 4 NA 1 1 9.04E-47 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 118981957 C T - - - - - - 15 0 0 33 12 36.4 8 1 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.227866463 1.04668562 2.128496294 1.346491228 1.346491228 1 NA NA 1 NA NA 0 4 NA 1 1 7.86E-20 1 0.039306956 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 119096778 C T - - - - - - 21 0 0 14 5 35.7 7 1 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.909853345 1.909853345 1 1.397385965 1.397385965 1 NA NA 0 NA NA 1 4 NA 1 1 6.03E-09 1 0.034479353 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 119201217 C A - - - - - - 42 0 0 43 26 60.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.415169661 1.20758483 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 5.78E-49 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 119220795 C G ASTN2 CCDS48009.1 r.? - - intronic 44 0 0 29 9 31 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.23752495 1.23752495 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.79E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 119237343 G C USP2 CCDS8422.1 r.? - - intronic 28 0 0 49 7 14.3 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 0.549368421 0.549368421 1 NA NA 1 NA NA 1 4 NA 1 1 5.58E-09 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 23957604 A G PRKCB CCDS10619.1 r.? - - intronic 30 0 0 55 19 34.5 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 2.239650601 0.89595883 2.499724906 4.450990375 1.483663458 3 NA NA 0 NA NA 1 4 NA 1 1 4.51E-30 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 79268546 G T NRXN3 CCDS9870.1 r.? - - intronic 61 0 0 40 11 27.5 32 2 6.2 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.097804391 1.097804391 1 0.605859649 0.605859649 1 0 NA 0 NA NA 1 4 NA 1 1 9.88E-17 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 119387793 C T - - - - - - 67 0 0 53 10 18.9 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.132491018 1.132491018 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.57E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 119406254 C T - - - - - - 40 0 0 53 15 28.3 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 1.023333333 1.023333333 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-22 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 119479152 A G - - - - - - 37 0 0 30 7 23.3 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.930139721 0.930139721 1 0.701754386 0.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-10 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 119508402 G T - - - - - - 60 0 0 52 7 13.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 1.745052632 1.745052632 1 NA NA 1 NA NA 1 4 NA 1 1 8.58E-09 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 119693260 T A - - - - - - 32 0 0 40 6 15 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.802459388 0.802459388 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 119711799 G C - - - - - - 54 0 0 48 11 22.9 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.372171657 1.372171657 1 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 9.31E-16 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 119712799 A G - - - - - - 42 0 0 32 16 50 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 0.649122807 0.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 8.51E-29 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 119716650 T G MARCO CCDS2124.1 r.? - - intronic 45 0 0 61 20 32.8 48 6 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.007528022 1.003764011 2 1.346491228 1.346491228 1 NA NA 0 NA NA 0 4 NA 1 1 4.89E-31 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 119794070 A G - - - - - - 51 0 0 41 18 43.9 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.63049501 1.315247505 2 0.484736842 0.484736842 1 NA NA 1 NA NA 1 4 NA 1 1 6.91E-31 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 119800581 A C - - - - - - 26 0 0 41 16 39 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.946886228 0.973443114 2 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.40E-26 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 119801178 G C - - - - - - 42 0 0 34 6 17.6 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.87859481 0.87859481 1 0.854755815 0.854755815 1 NA NA 1 NA NA 0 4 NA 1 1 1.86E-08 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 119803392 G C CCDC60 CCDS9190.1 r.? - - intronic 60 0 0 45 6 13.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.711513991 0.711513991 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 119866667 G A - - - - - - 57 0 0 58 21 36.2 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 1.935305855 0.967652928 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 1.34E-33 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 119869453 G T - - - - - - 50 0 0 52 4 7.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.46138523 0.46138523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000139698 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 119910178 A G HAO2 CCDS901.1 r.? - - upstream 40 0 0 36 7 19.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.968451098 0.968451098 1 2.107175439 2.107175439 1 NA NA 0 NA NA 1 4 NA 1 1 5.74E-10 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 33251280 G A FMN1 CCDS45209.1 r.? - - intronic 36 0 0 22 9 40.9 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.455620428 2 2 1 1 1 0.544379572 NA 3 NA 1 NA 0.455620428 2.041734531 1.020867265 2 0.460239761 0.460239761 1 NA NA 0 NA NA 1 4 NA 1 1 9.16E-16 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 119969361 G C - - - - - - 47 0 0 54 5 9.3 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0.56920764 0.56920764 1 0.301614035 0.301614035 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000806 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 120098364 C T MYOZ2 CCDS3711.1 r.? - - intronic 45 0 0 55 10 18.2 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.792797466 3.272960587 2 2 1 1 0.207202534 0.727039413 3 3 1 1 0.792797466 0.272960587 1.052836045 1.052836045 1 1.114982836 1.114982836 1 NA NA 0 NA NA 1 4 NA 1 1 2.33E-13 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 120150682 T A - - - - - - 47 0 0 31 16 51.6 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.05988024 1.02994012 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.27E-29 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 120158545 T C - - - - - - 55 0 0 32 18 56.2 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.243512974 1.121756487 2 2.815789474 1.407894737 2 NA NA 1 NA NA 1 4 NA 1 1 1.68E-33 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 120313945 T G CIT CCDS9192.1 r.81a>c c.28A>C p.N10H missense 34 0 0 33 6 18.2 30 7 23.3 279 0 0 133 16 12 134 16 11.9 6.68E-13 TRUE TRUE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.973650725 0.973650725 1 2.276859649 1.138429825 2 0.641967511 0.641967511 1 1.162859649 1.162859649 1 4 3 1 1 1.54E-08 1.57E-17 1.44E-10 1.78E-17 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 9 120411585 A T - - - - - - 40 0 0 21 3 14.3 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.570858283 0.570858283 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000155401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 120428379 G A - - - - - - 41 0 0 32 7 21.9 17 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.874251497 0.874251497 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.36E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 120511653 C T - - - - - - 39 0 0 30 5 16.7 24 0 0 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.666666667 0.666666667 1 0 0 1 NA NA 0 0 0 1 3 NA 1 1 0.000000401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 120524614 T C - - - - - - 36 0 0 45 16 35.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-26 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 120545222 C T GRIK4 CCDS8433.1 r.? - - intronic 43 0 0 48 21 43.8 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.624502994 0.874834331 3 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 9.35E-36 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 120573647 G T - - - - - - 26 0 0 28 6 21.4 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 0.245614035 0.245614035 1 NA NA 1 NA NA 1 4 NA 1 1 5.36E-09 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 120587815 T A - - - - - - 48 0 0 39 4 10.3 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.792797466 3.272960587 2 2 1 1 0.207202534 0.727039413 3 3 1 1 0.792797466 0.272960587 0.595835784 0.595835784 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 120588187 C T NOTCH2 CCDS908.1 r.? - - intronic 40 0 0 44 9 20.5 50 7 14 2 0 0 8 0 0 9 0 0 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.023363273 1.023363273 1 1.648070175 1.648070175 1 0 NA 0 0 0 1 4 NA 1 1 1.18E-12 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 120729542 T C RNU4-1B ENST00000365668 r.? - - downstream 38 0 0 50 9 18 47 3 6.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.962951266 0.962951266 1 0.625403509 0.625403509 1 NA NA 0 NA NA 0 4 NA 1 1 4.07E-12 1 0.001719595 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 120740075 G A - - - - - - 44 0 0 28 14 50 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.50877193 1.50877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.29E-25 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 120828508 A G - - - - - - 43 0 0 29 6 20.7 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.826347305 0.826347305 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 120999913 G A STXBP5L CCDS43137.1 r.? - - intronic 60 0 0 40 12 30 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.603016228 1.603016228 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 1.20E-18 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 121009021 G A TECTA CCDS8434.1 r.? - - intronic 25 0 0 26 4 15.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.922770459 0.922770459 1 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000856 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 121065893 C A TECTA CCDS8434.1 r.? - - downstream 57 0 0 39 13 33.3 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.572701754 1.572701754 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 121085012 G C CABP1 CCDS31913.1 r.? - - intronic 27 0 0 42 7 16.7 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.893404786 0.893404786 1 0.312701754 0.312701754 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-09 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 52535242 T C TOX3 ENST00000219746 r.? - - intronic 44 0 0 53 17 32.1 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.923437126 0.961718563 2 2.628439999 1.107351304 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 2.08E-26 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 121261100 C T - - - - - - 14 0 0 43 18 41.9 16 3 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 2.564494638 1.204838667 2.128496294 2.025122807 2.025122807 1 NA NA 1 NA NA 1 4 NA 1 1 2.06E-30 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 35091965 C A - - - - - - 39 0 0 37 11 29.7 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 1.92804704 0.96402352 2 0.805889622 0.805889622 1 NA NA 0 NA NA 0 4 NA 1 1 3.70E-17 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 121328302 G A - - - - - - 42 1 2.4 34 9 26.5 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.057884232 1.057884232 1 1.195684211 1.195684211 1 NA NA 0 NA NA 1 4 NA 0.189842622 1 9.15E-14 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 121335978 C T ENSG00000157837 CCDS9208.1 r.? - - intronic 36 0 0 32 5 15.6 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.834557764 0.834557764 1 0.674263158 0.674263158 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000562 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 121384936 A C - - - - - - 60 0 0 49 14 28.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.734280702 1.734280702 1 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 46965722 C G GPT2 CCDS10725.1 r.? - - downstream 34 0 0 84 29 34.5 47 15 31.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9.313373224 5.626372055 7 3 2 2 0.686626776 0.373627945 7 3 3 3 0.313373224 0.626372055 3.900359271 0.975089818 4 3.9550583 1.318352767 3 NA NA 1 NA NA 0 4 NA 1 1 4.21E-45 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 121461739 C A - - - - - - 35 0 0 39 6 15.4 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.614770459 0.614770459 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 121472511 C T - - - - - - 45 0 0 24 10 41.7 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.664670659 1.664670659 1 0.894070175 0.894070175 1 NA NA 0 NA NA 1 4 NA 1 1 1.80E-17 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 121479645 T G - - - - - - 50 0 0 44 18 40.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.450734531 1.225367265 2 2.251333333 1.125666667 2 NA NA 1 NA NA 1 4 NA 1 1 3.47E-30 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 121568526 C A P2RX7 CCDS9213.1 r.? - - upstream 43 0 0 53 10 18.9 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.011098829 1.011098829 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.57E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 121629224 C T PRDM5 CCDS3716.1 r.? - - intronic 45 0 0 41 17 41.5 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.792797466 3.272960587 2 2 1 1 0.207202534 0.727039413 3 3 1 1 0.792797466 0.272960587 2.400697575 0.859603177 2.792797466 0.954264589 0.954264589 1 NA NA 0 NA NA 0 4 NA 1 1 1.03E-28 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 49075857 G T - - - - - - 57 0 0 40 14 35 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.097205589 1.048602794 2 2.479660376 1.044671041 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 1.25E-22 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 51189934 C T SALL1 CCDS10747.1 r.? - - upstream 13 0 0 42 6 14.3 10 3 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.856858283 0.856858283 1 3.719490564 1.239830188 3 NA NA 0 NA NA 0 4 NA 1 1 7.02E-08 1 0.0000146 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 121745551 G C SNTB1 CCDS6334.1 r.? - - intronic 42 0 0 41 22 53.7 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.680712575 1.340356287 2 2.291872734 1.145936367 2 NA NA 1 NA NA 0 4 NA 1 1 5.33E-40 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 121829295 G A - - - - - - 30 0 0 46 9 19.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 1.048546934 1.048546934 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.82E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 121934553 G T CASR CCDS3010.1 r.? - - intronic 59 0 0 38 7 18.4 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.983183287 0.983183287 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 122091012 C G - - - - - - 48 0 0 62 16 25.8 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.54594012 0.77297006 2 2.003578947 1.001789474 2 NA NA 1 NA NA 1 4 NA 1 1 3.36E-23 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 122136735 T C - - - - - - 41 0 0 71 10 14.1 37 5 13.5 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.703874251 0.703874251 1 1.268044341 1.268044341 1 0 0 1 NA NA 0 4 NA 1 1 3.42E-12 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 122185361 G A KPNA1 CCDS3013.1 r.? - - intronic 53 0 0 45 9 20 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.068677485 1.068677485 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-12 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 122220408 G T - - - - - - 56 0 0 33 7 21.2 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.846307385 0.846307385 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.98E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 59512406 C A - - - - - - 55 0 0 54 6 11.1 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.665113772 0.665113772 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 122236409 T C RHOF CCDS9222.1 r.? - - upstream 17 0 0 47 7 14.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0.797109659 0.797109659 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 4.12E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 122247707 G A - - - - - - 46 0 0 33 14 42.4 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.54061477 0.84687159 3 2.391368421 2.391368421 1 NA NA 1 NA NA 1 4 NA 1 1 4.57E-24 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 122291077 C T - - - - - - 47 0 0 25 7 28 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117764471 1.117764471 1 0.833333333 0.833333333 1 NA NA 1 NA NA 1 4 NA 1 1 3.47E-11 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 60716667 T G - - - - - - 50 0 0 46 18 39.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.342878244 1.171439122 2 1.958931697 1.958931697 1 NA NA 0 NA NA 0 4 NA 1 1 9.41E-30 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 122439829 C G - - - - - - 48 0 0 29 10 34.5 18 7 38.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 3.412280702 1.706140351 2 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 122487214 C A CADPS2 CCDS47691.1 r.? - - intronic 57 0 0 48 20 41.7 45 10 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.498670659 1.249335329 2 2.391368421 1.195684211 2 NA NA 1 NA NA 1 4 NA 1 1 1.40E-33 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 122504797 C G TSN ENST00000455432 r.? - - intronic 41 0 0 25 9 36 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.437125749 1.437125749 1 0.324561404 0.324561404 1 NA NA 1 NA NA 1 4 NA 1 1 3.71E-15 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 122512510 C A GRIA3 ENST00000264357 r.? - - intronic 32 0 0 53 9 17 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.087033265 1.087033265 1 0.394267082 NA 0 NA NA 0 NA NA 0 NA NA 1 1 7.10E-12 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 122551756 C T - - - - - - 55 0 0 37 8 21.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.078275449 1.078275449 1 1.411736186 1.411736186 1 NA NA 1 NA NA 0 4 NA 1 1 1.33E-11 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 122564498 G A - - - - - - 40 0 0 27 15 55.6 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.219560878 1.109780439 2 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 5.01E-28 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 62640311 C A - - - - - - 45 0 0 41 10 24.4 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.462051896 1.462051896 1 1.004262452 1.004262452 1 NA NA 0 NA NA 1 4 NA 1 1 9.51E-15 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 64025037 G T - - - - - - 50 0 0 42 9 21.4 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.282291417 1.282291417 1 0.371949056 0.371949056 1 NA NA 0 NA NA 0 4 NA 1 1 7.51E-13 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 122685007 G C TMEM155 CCDS3721.1 r.390c>g c.? p.? 5'UTR variant 46 0 0 41 6 14.6 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.728834331 0.728834331 1 0.361983637 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.05E-08 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 122725451 A G - - - - - - 37 0 0 22 5 22.7 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.906187625 0.906187625 1 0.798245614 0.798245614 1 NA NA 1 NA NA 1 4 NA 1 1 7.67E-08 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 122838725 C T - - - - - - 40 0 0 22 10 45.5 21 6 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.816367265 0.908183633 2 2.50877193 1.254385965 2 NA NA 1 NA NA 1 4 NA 1 1 5.98E-18 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 122865821 A C - - - - - - 41 0 0 25 6 24 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.958083832 0.958083832 1 2.973052632 0.991017544 3 NA NA 0 NA NA 1 4 NA 1 1 2.55E-09 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 64928744 A C - - - - - - 42 0 0 49 6 12.2 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.731025948 0.731025948 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 122894855 G T CSNK1G3 CCDS43355.1 r.? - - intronic 50 0 0 34 8 23.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.938123752 0.938123752 1 1.815789474 1.815789474 1 NA NA 1 NA NA 1 4 NA 1 1 6.32E-12 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 122953707 C G ENSG00000166250 CCDS8441.1 r.? - - intronic 56 0 0 55 21 38.2 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.2889501 1.14447505 2 2.833017544 0.944339181 3 NA NA 1 NA NA 1 4 NA 1 1 3.41E-34 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 123007848 C T - - - - - - 52 0 0 49 8 16.3 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.813698603 0.813698603 1 0.244338955 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.47E-10 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 123061589 G C ENSG00000166250 CCDS8441.1 r.? - - intronic 45 0 0 51 30 58.8 35 13 37.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.523305389 0.880826347 4 3.996385965 0.999096491 4 NA NA 1 NA NA 1 4 NA 1 1 9.63E-56 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 123089314 G A - - - - - - 49 0 0 39 5 12.8 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.766978044 0.766978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 123145447 G T - - - - - - 36 0 0 34 9 26.5 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.057884232 1.057884232 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 9.15E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 123240981 G A - - - - - - 28 0 0 49 27 55.1 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.301600798 1.100533599 3 3.145403509 1.048467836 3 NA NA 1 NA NA 1 4 NA 1 1 3.33E-49 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 123256066 C A - - - - - - 64 0 0 33 6 18.2 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.726546906 0.726546906 1 0.903508772 0.903508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 123269330 G A ASB15 CCDS34742.1 r.1803g>a c.1282G>A p.D428N missense 52 0 0 48 5 10.4 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.623169661 0.623169661 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 123286819 G T KIAA1109 CCDS43267.1 r.? - - downstream 34 0 0 45 9 20 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.998403194 0.998403194 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.47E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 123326231 C T ADAD1 CCDS34058.1 r.? - - intronic 44 0 0 35 8 22.9 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.143171657 1.143171657 1 1.882314914 1.882314914 1 NA NA 1 NA NA 0 4 NA 1 1 8.15E-12 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 65134571 G T CDH11 CCDS10803.1 r.? - - intronic 19 0 0 38 13 34.2 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.049269461 1.024634731 2 1.202635282 1.202635282 1 NA NA 0 NA NA 1 4 NA 1 1 5.88E-21 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 123491083 C G SH2D1A CCDS48162.1 r.? - - intronic 49 0 0 53 4 7.5 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.479573499 0.479573499 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 123644386 C T - - - - - - 33 0 0 54 9 16.7 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.872526316 0.872526316 1 NA NA 1 NA NA 1 4 NA 1 1 8.48E-12 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 123661025 A T - - - - - - 48 0 0 44 10 22.7 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.360187625 1.360187625 1 0.258526316 0.258526316 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-14 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 67359954 C G KCTD19 CCDS42179.1 r.? - - intronic 18 0 0 44 16 36.4 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.181093812 1.090546906 2 2.752423017 0.917474339 3 NA NA 0 NA NA 1 4 NA 1 1 5.57E-26 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 123765910 T A - - - - - - 33 0 0 62 10 16.1 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.469821537 3 3 2 3 1 0.530178463 1 4 NA 3 NA 0.469821537 NA 1.362355838 1.362355838 1 0.429964912 0.429964912 1 NA NA 1 NA NA 0 4 NA 1 1 8.29E-13 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 123767374 C A - - - - - - 50 0 0 20 10 50 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.72E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 123880151 G C - - - - - - 39 0 0 43 7 16.3 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.976698603 0.976698603 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.15E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 123953195 A G TACC2 CCDS7626.1 r.? - - intronic 35 0 0 27 12 44.4 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-21 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 123975214 G T - - - - - - 40 0 0 41 9 22 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.318243513 1.318243513 1 0.700175439 0.700175439 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-13 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 123979392 G T - - - - - - 46 0 0 39 7 17.9 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.714570858 0.714570858 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 124078472 A T KALRN CCDS3027.1 r.? - - intronic 54 0 0 42 18 42.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 2.292313206 1.146156603 2 2.578052632 0.859350877 3 NA NA 0 NA NA 1 4 NA 1 1 1.20E-30 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 124181381 G T TCTN2 CCDS9253.1 r.? - - intronic 35 0 0 46 7 15.2 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.469821537 3 3 2 3 1 0.530178463 1 4 NA 3 NA 0.469821537 NA 1.286199301 1.286199301 1 0.429964912 0.429964912 1 NA NA 0 NA NA 0 4 NA 1 1 3.53E-09 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 124240016 A C KALRN CCDS3027.1 r.? - - downstream 30 0 0 29 4 13.8 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.737387465 0.737387465 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 124247604 G A NKAIN2 CCDS34526.1 r.? - - intronic 26 0 0 22 9 40.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.632734531 1.632734531 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 4 NA 1 1 9.16E-16 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 124253780 C T DNAH10 CCDS9255.2 r.? - - intronic 29 0 0 57 29 50.9 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 4.067936128 1.016984032 4 1.299666667 1.299666667 1 NA NA 1 NA NA 0 4 NA 1 1 2.45E-51 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 124289684 G T - - - - - - 14 0 0 59 5 8.5 16 1 6.2 0 0 NA 2 0 0 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.543516633 0.543516633 1 0.643277871 NA 0 0 0 1 NA NA 0 NA NA 1 1 0.0000125 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 124302577 T A KALRN CCDS3028.1 r.? - - upstream 54 0 0 29 6 20.7 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.106081197 1.106081197 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 124344730 C A KALRN CCDS3028.1 r.? - - intronic 44 0 0 39 10 25.6 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.367907181 1.367907181 1 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 5.44E-15 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 124496621 C A - - - - - - 40 1 2.5 19 7 36.8 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.469061876 1.469061876 1 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 0.181679879 1 3.73E-12 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 124526624 C T POT1 CCDS5793.1 r.? - - intronic 57 0 0 64 7 10.9 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 3.78E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 124623291 C T MUC13 CCDS33839.1 r.? - - downstream 52 0 0 50 21 42 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 2.244222719 1.12211136 2 3.096017544 1.032005848 3 NA NA 0 NA NA 1 4 NA 1 1 2.79E-35 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 124629607 A G - - - - - - 55 0 0 47 11 23.4 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.402131737 1.402131737 1 2.940736842 1.470368421 2 NA NA 1 NA NA 1 4 NA 1 1 7.21E-16 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 124686070 A C - - - - - - 53 0 0 49 20 40.8 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.608879837 1.085993717 2.402297358 2.168468953 1.084234476 2 NA NA 0 NA NA 0 4 NA 1 1 2.35E-33 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 124756119 C A - - - - - - 34 0 0 50 9 18 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.078562874 1.078562874 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.07E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 124793772 G T - - - - - - 38 0 0 43 10 23.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.24500927 1.24500927 1 0.423789474 0.423789474 1 NA NA 0 NA NA 1 4 NA 1 1 1.61E-14 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 124816471 G C - - - - - - 36 0 0 48 6 12.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.799289166 0.799289166 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 124861784 C T - - - - - - 33 0 0 26 9 34.6 19 0 0 0 0 NA 1 1 100 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.381237525 1.381237525 1 0 0 1 3.992015968 3.992015968 1 NA NA 1 4 NA 1 1 5.65E-15 0.005 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 124938129 C T - - - - - - 32 0 0 56 10 17.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.072570858 1.072570858 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.82E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 124962387 G A - - - - - - 43 0 0 45 14 31.1 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.863516966 0.931758483 2 1.497298246 1.497298246 1 NA NA 1 NA NA 1 4 NA 1 1 8.81E-22 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 124981502 C G CNTNAP5 CCDS46401.1 r.? - - intronic 41 0 0 24 10 41.7 19 5 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.664670659 0.832335329 2 2.307017544 1.153508772 2 NA NA 1 NA NA 1 4 NA 1 1 1.80E-17 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 125016909 A C - - - - - - 42 0 0 51 10 19.6 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 125084103 T A ZNF148 CCDS3031.1 r.? - - intronic 46 0 0 48 9 18.8 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.004556836 1.004556836 1 0.765175439 0.765175439 1 NA NA 0 NA NA 1 4 NA 1 1 2.75E-12 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 125130914 C A CNTNAP5 CCDS46401.1 r.? - - intronic 41 0 0 27 7 25.9 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.033932136 1.033932136 1 0.587719298 0.587719298 1 NA NA 1 NA NA 1 4 NA 1 1 6.36E-11 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 77194720 C T - - - - - - 39 0 0 38 6 15.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.946738523 0.946738523 1 1.834948678 1.834948678 1 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 125151872 G T - - - - - - 45 1 2.2 40 15 37.5 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.397867497 0.99815599 2.402297358 2.490107888 0.956439038 2.60351971 NA NA 1 NA NA 0 4 NA 0.201934322 1 1.09E-24 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 125160232 T C - - - - - - 44 0 0 47 15 31.9 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.039785951 1.019892975 2 2.749494127 1.056068105 2.60351971 NA NA 0 NA NA 0 4 NA 1 1 1.97E-23 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 79370382 G T - - - - - - 47 0 0 60 7 11.7 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.935065868 0.935065868 1 2.405270565 1.01333091 2.373627945 NA NA 1 NA NA 0 4 NA 1 1 2.39E-08 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 125352113 G A TMEM65 CCDS6348.1 r.? - - intronic 40 0 0 42 17 40.5 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.021766467 1.010883234 2 1.643761182 1.643761182 1 NA NA 1 NA NA 0 4 NA 1 1 1.73E-28 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 125501699 T G - - - - - - 60 0 0 30 8 26.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.065868263 1.065868263 1 1.99122807 1.99122807 1 NA NA 1 NA NA 1 4 NA 1 1 2.07E-12 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 125528097 C A CNTNAP5 CCDS46401.1 r.? - - intronic 55 0 0 40 13 32.5 43 0 0 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.29740519 1.29740519 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.30E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 125556158 C A - - - - - - 39 0 0 49 4 8.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.491345309 0.491345309 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 125587401 G T CNTNAP5 CCDS46401.1 r.? - - intronic 46 0 0 34 16 47.1 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880239521 0.94011976 2 3.289473684 1.644736842 2 NA NA 1 NA NA 1 4 NA 1 1 3.09E-28 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 125626916 C T - - - - - - 37 0 0 41 14 34.1 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.043277445 1.021638723 2 3.188491228 1.062830409 3 NA NA 1 NA NA 1 4 NA 1 1 1.90E-22 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 125675111 A C ENSG00000230519 ENST00000420567 r.? - - intronic 40 0 0 54 8 14.8 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.886818363 0.886818363 1 0.807894737 0.807894737 1 NA NA 1 NA NA 1 4 NA 1 1 3.31E-10 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 125785912 C T CHST15 CCDS7638.1 r.? - - intronic 36 0 0 32 16 50 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 8.51E-29 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 125806451 G A RABGAP1 CCDS6848.2 r.? - - intronic 35 0 0 44 12 27.3 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.089820359 1.089820359 1 0.797122807 0.797122807 1 NA NA 0 NA NA 1 4 NA 1 1 4.44E-18 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 125825981 T C ALDH1L1 CCDS3034.1 r.2803+3a>g c.2453+3A>G p.? splice region 22 0 0 47 9 19.1 34 3 8.8 307 0 0 60 8 13.3 42 2 4.8 0.066182322 TRUE TRUE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.020586999 1.020586999 1 1.035929825 1.035929825 1 0.710670528 0.710670528 1 0.565052632 0.565052632 1 4 3 1 1 2.24E-12 7.93E-10 0.000666058 0.018854633 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 125916146 T C - - - - - - 41 0 0 51 11 21.6 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.381171678 1.381171678 1 0.321638936 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.94E-15 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 125984272 A T ZNF572 CCDS6354.1 r.? - - upstream 44 0 0 42 22 52.4 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.615816367 1.307908184 2 2.949377207 1.474688604 2 NA NA 1 NA NA 0 4 NA 1 1 1.11E-39 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 125989269 A T - - - - - - 38 0 0 52 10 19.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.025930386 1.025930386 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.28E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 126097359 G C - - - - - - 40 0 0 30 7 23.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.930139721 0.930139721 1 1.992807018 1.992807018 1 NA NA 0 NA NA 1 4 NA 1 1 1.44E-10 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 126136887 C T - - - - - - 61 0 0 28 10 35.7 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.425149701 1.425149701 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.18E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126144955 T G GRM8 CCDS5794.1 r.? - - intronic 50 0 0 53 5 9.4 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.563249501 0.563249501 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 126244417 C A DENND1A CCDS35133.1 r.? - - intronic 33 0 0 36 13 36.1 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.441117764 1.441117764 1 2.391368421 1.195684211 2 NA NA 0 NA NA 1 4 NA 1 1 2.53E-21 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126269630 G A - - - - - - 53 0 0 49 9 18.4 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.470530938 1.470530938 1 1.045596491 1.045596491 1 NA NA 1 NA NA 0 4 NA 1 1 3.35E-12 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126320221 C A - - - - - - 23 0 0 29 5 17.2 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.374626747 1.374626747 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000336 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 126327932 G A - - - - - - 45 0 0 42 33 78.6 30 12 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 5.025930274 1.141660789 4.402297358 4.150179814 1.15170171 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 4.97E-68 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 126328441 A G TRMT11 CCDS35496.1 r.? - - intronic 54 0 0 33 11 33.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 4 NA 1 1 8.54E-18 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 126333935 T A - - - - - - 66 0 0 65 48 73.8 38 15 39.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.719003234 1.071941046 4.402297358 4.098302566 1.137305439 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 6.10E-96 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 126402407 T G FAT4 CCDS3732.3 r.? - - intronic 60 0 0 41 5 12.2 38 0 0 93 0 0 236 27 11.4 267 0 0 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.609025948 0.609025948 1 0 NA 0 0.56908982 0.56908982 1 0 NA 0 NA NA 1 1 0.00000202 6.22E-28 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 126405684 G A - - - - - - 46 0 0 38 6 15.8 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.844255213 0.844255213 1 0.600368421 0.600368421 1 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 126500564 G A CHCHD6 CCDS3041.1 r.? - - intronic 26 0 0 32 9 28.1 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.501491867 1.501491867 1 0.65922807 0.65922807 1 NA NA 0 NA NA 1 4 NA 1 1 4.94E-14 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 126502383 T G - - - - - - 41 0 0 32 4 12.5 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126537375 G T GRM8 CCDS5794.1 r.? - - intronic 59 0 0 51 22 43.1 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.582558882 1.291279441 2 1.464982456 1.464982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.24E-37 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126583593 G T GRM8 CCDS5794.1 r.? - - intronic 50 0 0 44 7 15.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.952730539 0.952730539 1 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 2.55E-09 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 126585291 A G - - - - - - 50 0 0 40 16 40 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.396806387 1.198403194 2 0.861754386 0.861754386 1 NA NA 1 NA NA 1 4 NA 1 1 8.56E-27 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 126600643 C A - - - - - - 55 0 0 42 9 21.4 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.068291417 1.068291417 1 0.262438137 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.51E-13 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126637842 G A - - - - - - 44 0 0 33 19 57.6 21 7 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 4.603401198 1.150850299 4 3.254052632 1.627026316 2 NA NA 1 NA NA 0 4 NA 1 1 1.46E-35 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 126650063 G C CHCHD6 CCDS3041.1 r.? - - intronic 18 0 0 57 9 15.8 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.844255213 0.844255213 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.42E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126750755 C T GRM8 CCDS5794.1 r.? - - intronic 45 0 0 41 16 39 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.336886228 1.168443114 2 1.734280702 1.734280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.40E-26 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126753843 C A GRM8 CCDS5794.1 r.? - - intronic 37 0 0 46 8 17.4 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.042610778 1.042610778 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126757056 C T - - - - - - 49 0 0 33 19 57.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 4.603401198 1.150850299 4 2.091192982 1.045596491 2 NA NA 1 NA NA 0 4 NA 1 1 1.46E-35 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126800138 G A GRM8 CCDS5794.1 r.? - - intronic 57 0 0 48 5 10.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.623169661 0.623169661 1 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000447 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 88046086 A G BANP CCDS10966.2 r.? - - intronic 42 0 0 35 9 25.7 43 12 27.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5.626372055 3 3 3 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 2.053948104 1.026974052 2 3.459126224 1.153042075 3 NA NA 1 NA NA 0 4 NA 1 1 1.23E-13 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126929701 A G ENSG00000214043 ENST00000397346 r.? - - intronic 49 0 0 49 15 30.6 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 2.445556886 0.815185629 3 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.10E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126950516 G A ENSG00000214043 ENST00000397346 r.985g>a c.? p.? 3'UTR variant 57 0 0 44 6 13.6 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.086914172 1.086914172 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 126957548 C G ENSG00000214043 ENST00000397346 r.? - - downstream 45 0 0 53 25 47.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 3.772231537 0.943057884 4 1.543964912 1.543964912 1 NA NA 1 NA NA 0 4 NA 1 1 2.35E-43 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 126962532 G A - - - - - - 21 0 0 20 8 40 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.596806387 1.596806387 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 4.66E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 127147131 C A - - - - - - 46 0 0 39 7 17.9 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.430570858 1.430570858 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 127211370 C A - - - - - - 15 0 0 36 13 36.1 9 1 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 2.885117764 0.961705921 3 1.084684211 1.084684211 1 NA NA 1 NA NA 0 4 NA 1 1 2.53E-21 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 127304435 G C SND1 CCDS34747.1 r.? - - intronic 35 0 0 49 20 40.8 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.444742515 1.222371257 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-33 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 127337868 A T NR6A1 CCDS35137.1 r.? - - intronic 39 0 0 19 7 36.8 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.469061876 1.469061876 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.73E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 127340166 G A SND1 CCDS34747.1 r.? - - intronic 46 0 0 59 8 13.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.90E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 127375992 G T C10orf122 CCDS44493.1 r.? - - upstream 50 0 0 31 16 51.6 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.05988024 1.02994012 2 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 4.27E-29 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 127432145 T A GYPC CCDS2136.1 r.? - - intronic 24 0 0 31 6 19.4 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 0.333333333 0.333333333 1 NA NA 1 NA NA 1 4 NA 1 1 1.03E-08 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 127447033 C T - - - - - - 20 0 0 39 14 35.9 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 2.692982456 0.897660819 3 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 127508657 G C - - - - - - 21 0 0 37 5 13.5 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.673922156 0.673922156 1 1.343187709 1.343187709 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000119 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 127572541 C T FAM84B CCDS6358.1 r.? - - upstream 45 0 0 42 11 26.2 50 12 24 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.307908184 1.307908184 1 2.25430105 1.127150525 2 NA NA 1 NA NA 0 4 NA 1 1 1.81E-16 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 58820825 T A AC106793.1 ENST00000500117 r.? - - intronic 40 0 0 40 7 17.5 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 1.048602794 1.048602794 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 1.26E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 127863250 C T - - - - - - 44 0 0 45 9 20 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-12 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 127903639 C T - - - - - - 34 0 0 40 11 27.5 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.647804391 1.647804391 1 1.532631579 1.532631579 1 NA NA 0 NA NA 1 4 NA 1 1 9.88E-17 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 127960784 G A FBN2 ENST00000508053 r.? - - intronic 40 0 0 31 20 64.5 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.574850299 1.28742515 2 2.50877193 1.254385965 2 NA NA 1 NA NA 1 4 NA 1 1 7.66E-39 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 127998663 A G - - - - - - 39 0 0 47 22 46.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.336263473 1.168131737 2 2.592446208 1.296223104 2 NA NA 1 NA NA 0 4 NA 1 1 3.14E-38 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 128021039 G A - - - - - - 49 0 0 51 21 41.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.468710579 0.822903526 3 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 4.73E-35 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 128079878 C T - - - - - - 54 0 0 34 7 20.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.028355289 1.028355289 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 7333952 C T TMEM102 CCDS11104.1 r.? - - upstream 40 0 0 38 6 15.8 29 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.630738523 0.630738523 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.76E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 17523504 C T - - - - - - 52 0 0 25 13 52 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 2.075848303 1.037924152 2 3.008208324 1.002736108 3 NA NA 0 NA NA 1 4 NA 1 1 6.00E-24 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 128163509 T C - - - - - - 51 0 0 35 16 45.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.281351297 1.140675649 2 2.564267445 1.282133722 2 NA NA 1 NA NA 0 4 NA 1 1 5.66E-28 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 128178946 T C - - - - - - 11 0 0 57 20 35.1 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.103197605 1.051598802 2 2.283649123 1.141824561 2 NA NA 1 NA NA 1 4 NA 1 1 9.67E-32 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 128196184 C A - - - - - - 50 0 0 37 9 24.3 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.94205988 0.97102994 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.14E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 128254588 C T IWS1 CCDS2146.1 r.? - - intronic 42 0 0 47 14 29.8 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 3.192982456 1.064327485 3 NA NA 0 NA NA 1 4 NA 1 1 1.79E-21 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 128338365 G T ETS1 CCDS8475.1 r.? - - intronic 52 0 0 50 9 18 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.078562874 1.078562874 1 2.606807018 0.868935673 3 NA NA 1 NA NA 1 4 NA 1 1 4.07E-12 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 128339355 A G - - - - - - 49 0 0 47 6 12.8 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.022978044 1.022978044 1 0.977192982 0.977192982 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000141 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 128549193 G A PBX3 CCDS6865.1 r.? - - intronic 46 0 0 24 4 16.7 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.666666667 0.666666667 1 2.229789474 1.114894737 2 NA NA 0 NA NA 1 4 NA 1 1 0.00000613 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 128564857 G A FLI1 CCDS44768.1 r.? - - intronic 10 0 0 32 7 21.9 9 1 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.312251497 1.312251497 1 1.195684211 1.195684211 1 NA NA 1 NA NA 1 4 NA 1 1 2.36E-10 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 128613982 A G - - - - - - 31 0 0 29 14 48.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 3.860143713 0.965035928 4 2.061877193 2.061877193 1 NA NA 1 NA NA 0 4 NA 1 1 4.41E-25 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 37139566 C A - - - - - - 47 0 0 32 6 18.8 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0.750499002 0.750499002 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.27E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 128776540 C G - - - - - - 20 0 0 29 17 58.6 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 4.683321357 1.170830339 4 2.325719298 1.162859649 2 NA NA 1 NA NA 0 4 NA 1 1 3.74E-32 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 128787857 G A APLN CCDS48165.1 r.? - - intronic 21 0 0 46 19 41.3 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.640851404 1.099302464 2.402297358 0.798909614 0.798909614 1 NA NA 1 NA NA 0 4 NA 1 1 6.97E-32 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 128833478 G A - - - - - - 28 0 0 47 35 74.5 27 8 29.6 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.763763428 1.082108508 4.402297358 3.071133062 1.023711021 3 NA NA 1 NA NA 0 4 NA 1 1 1.43E-70 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 128967236 C A COPG CCDS33851.1 r.? - - upstream 19 0 0 50 11 22 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.175545234 1.175545234 1 1.118333333 1.118333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.52E-15 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 128971697 G A PVT1 CCDS3617.1 r.? - - intronic 17 0 0 35 18 51.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.565896208 1.282948104 2 3.015127655 1.507563827 2 NA NA 1 NA NA 0 4 NA 1 1 1.60E-32 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 128977025 G A - - - - - - 20 0 0 33 5 15.2 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 0.472561404 0.472561404 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000066 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 128987249 A G ADAMTS19 CCDS4146.1 r.? - - intronic 39 0 0 56 17 30.4 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.213572854 1.213572854 1 1.894736842 0.947368421 2 NA NA 1 NA NA 1 4 NA 1 1 6.22E-26 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 129015795 A T TMEM132C CCDS45009.1 r.? - - intronic 39 0 0 42 4 9.5 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 0.759241517 0.759241517 1 0.918561404 0.918561404 1 NA NA 1 NA NA 0 4 NA 1 1 0.0000601 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 129016481 G A C3orf37 CCDS33852.1 r.? - - intronic 47 0 0 55 11 20 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.068677485 1.068677485 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.77E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 47269496 T G - - - - - - 19 0 0 32 6 18.8 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750499002 0.750499002 1 0.877192982 0.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.27E-08 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 129089254 G A - - - - - - 24 0 0 57 19 33.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 1.061403509 1.061403509 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-29 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 129104245 T A - - - - - - 50 0 0 51 6 11.8 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.471057884 0.471057884 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000232 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 129263986 C A FAM125B CCDS35142.1 r.? - - intronic 22 0 0 44 8 18.2 12 1 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.726546906 0.726546906 1 0.894070175 0.894070175 1 NA NA 0 NA NA 1 4 NA 1 1 5.90E-11 1 0.058377193 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 129319490 G A - - - - - - 48 0 0 48 11 22.9 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.372171657 1.372171657 1 1.392140351 1.392140351 1 NA NA 0 NA NA 1 4 NA 1 1 9.31E-16 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 129341790 A G CHSY3 CCDS34223.1 r.? - - intronic 56 0 0 28 4 14.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.570858283 0.570858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 129360752 C T - - - - - - 39 0 0 35 12 34.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.369261477 1.369261477 1 2.596035088 0.865345029 3 NA NA 0 NA NA 1 4 NA 1 1 1.83E-19 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 129401019 A G - - - - - - 48 0 0 48 19 39.6 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.976838323 0.988419162 2 0.77826482 0.77826482 1 NA NA 1 NA NA 0 4 NA 1 1 1.92E-31 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 129430479 C T LAMA2 CCDS5138.1 r.? - - intronic 47 0 0 33 10 30.3 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.209580838 1.209580838 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 8.14E-16 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 129439307 C G LMX1B CCDS6866.1 r.? - - intronic 11 0 0 27 5 18.5 10 2 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.738522954 0.738522954 1 2.154385965 2.154385965 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000023 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 129613985 T A - - - - - - 33 0 0 46 7 15.2 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.910786427 0.910786427 1 0.409333333 0.409333333 1 NA NA 1 NA NA 1 4 NA 1 1 3.53E-09 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 56435689 G A RNF43 CCDS11607.1 r.1936c>u c.1448C>T p.T483M missense 15 0 0 33 21 63.6 7 2 28.6 198 0 0 71 25 35.2 68 12 17.6 4.34E-12 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.538922156 1.269461078 2 2.50877193 2.50877193 1 1.405189621 0.70259481 2 1.543859649 1.543859649 1 4 3 1 1 1.60E-40 2.38E-39 0.000516315 1.37E-15 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 10 129619987 C G - - - - - - 53 0 0 29 8 27.6 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.101796407 1.101796407 1 1.061403509 1.061403509 1 NA NA 1 NA NA 1 4 NA 1 1 1.53E-12 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 129633815 G A - - - - - - 38 0 0 36 8 22.2 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 129658045 G A - - - - - - 16 0 0 62 32 51.6 13 4 30.8 152 0 0 164 85 51.8 133 35 26.3 5.86E-39 TRUE TRUE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 3.299465676 0.96977581 3.402297358 3.195638457 1.065212819 3 3.312254303 0.973534631 3.402297358 2.728743228 1.04809778 2.60351971 4 3 1 1 9.07E-57 2.28E-148 0.000000431 2.76E-49 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 4 129763178 A G PHF17 CCDS34062.1 r.? - - intronic 43 0 0 36 14 38.9 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.941894212 0.970947106 2 1.375537822 1.375537822 1 NA NA 1 NA NA 0 4 NA 1 1 2.09E-23 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 129783815 G C LAMA2 CCDS5138.1 r.? - - intronic 42 0 0 25 11 44 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.756487026 0.878243513 2 2.043859649 1.021929825 2 NA NA 1 NA NA 1 4 NA 1 1 2.04E-19 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 129790939 T A TMEM132D CCDS9266.1 r.? - - intronic 48 0 0 39 4 10.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 0.823177645 0.823177645 1 1.583052632 1.583052632 1 NA NA 1 NA NA 0 4 NA 1 1 0.0000447 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 129869627 T C - - - - - - 51 0 0 39 7 17.9 49 2 4.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.893570858 0.893570858 1 0.385109763 0.385109763 1 NA NA 1 NA NA 0 4 NA 1 1 1.04E-09 1 0.025168485 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 129890131 A C TMEM132D CCDS9266.1 r.? - - intronic 30 0 0 34 5 14.7 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.174826347 1.174826347 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 129893562 C T - - - - - - 29 0 0 40 7 17.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.873602794 0.873602794 1 1.249258499 1.249258499 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-09 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 129910768 C T - - - - - - 15 0 0 40 7 17.5 9 3 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.048602794 1.048602794 1 3.587052632 0.896763158 4 NA NA 1 NA NA 1 4 NA 1 1 1.26E-09 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 64342014 G T PRKCA CCDS11664.1 r.? - - intronic 39 0 0 21 12 57.1 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 2.245614035 1.122807018 2 NA NA 1 NA NA 1 4 NA 1 1 6.88E-23 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 130139014 C A - - - - - - 46 0 0 44 9 20.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.023363273 1.023363273 1 1.465295683 1.465295683 1 NA NA 1 NA NA 0 4 NA 1 1 1.18E-12 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 130167129 T C TMEM132D CCDS9266.1 r.? - - intronic 30 0 0 29 13 44.8 19 6 31.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 3.580423154 0.895105788 4 3.087929825 1.543964912 2 NA NA 1 NA NA 0 4 NA 1 1 7.69E-23 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 130177250 C G - - - - - - 46 0 0 32 25 78.1 36 14 38.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.993958707 1.134398316 4.402297358 4.036049869 1.120029913 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 9.70E-52 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 130290210 G T - - - - - - 39 0 0 35 6 17.1 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.853634731 0.853634731 1 0.298636501 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.24E-08 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 130300149 G C - - - - - - 47 0 0 43 10 23.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.163139721 1.163139721 1 0.280537319 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.61E-14 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 130317125 A G - - - - - - 47 0 0 42 6 14.3 42 3 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.713858283 0.713858283 1 0.666897394 0.666897394 1 NA NA 1 NA NA 0 4 NA 1 1 7.02E-08 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 130354561 T A - - - - - - 52 0 0 49 8 16.3 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.976698603 0.976698603 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-10 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 130393067 G A COL6A6 CCDS46911.1 r.? - - intronic 53 0 0 31 10 32.3 37 11 29.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.725914139 1.046878721 1.648628541 3.496263158 1.165421053 3 NA NA 0 NA NA 1 4 NA 1 1 3.94E-16 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 130397264 C T - - - - - - 53 0 0 43 5 11.6 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.579073852 0.579073852 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 66599312 G A FAM20A CCDS11679.1 r.? - - upstream 42 0 0 27 16 59.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.367265469 1.183632735 2 2.342105263 1.171052632 2 NA NA 1 NA NA 1 4 NA 1 1 1.89E-30 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 71943831 G A - - - - - - 14 0 0 28 10 35.7 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 2.751180122 0.917060041 3 2.882784282 1.034585386 2.786415041 NA NA 0 NA NA 1 4 NA 1 1 1.18E-16 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 130552301 C A - - - - - - 10 0 0 26 13 50 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 2.996007984 1.498003992 2 3.550596491 1.183532164 3 NA NA 0 NA NA 1 4 NA 1 1 1.20E-23 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 130552790 C A AC013300.1 ENST00000446592 r.? - - intronic 28 0 0 48 22 45.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.286343313 1.143171657 2 2.564267445 1.282133722 2 NA NA 1 NA NA 0 4 NA 1 1 5.76E-38 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 130572467 C G - - - - - - 18 0 0 49 11 22.4 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.342211577 1.342211577 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.19E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 130612679 C T - - - - - - 20 0 0 36 5 13.9 14 2 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 1.11089022 1.11089022 1 1.397385965 1.397385965 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000104 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 130705535 T A - - - - - - 55 0 0 42 35 83.3 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 5.326463 1.209928037 4.402297358 3.932295374 1.091237371 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 7.59E-74 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 130788177 G T SNX19 CCDS31721.1 r.? - - upstream 54 0 0 41 5 12.2 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0.290842105 0.290842105 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000202 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 130788540 C T - - - - - - 45 0 0 44 12 27.3 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.362820359 1.362820359 1 0.515826683 0.515826683 1 NA NA 1 NA NA 0 4 NA 1 1 4.44E-18 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 130839147 G A SLC25A25 CCDS35151.1 r.? - - intronic 34 0 0 29 10 34.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.377245509 1.377245509 1 2.283649123 1.141824561 2 NA NA 0 NA NA 1 4 NA 1 1 1.79E-16 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 61768947 C G CDH8 CCDS10802.1 r.? - - intronic 56 0 0 50 7 14 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.838882236 0.838882236 1 2.182101131 0.919310516 2.373627945 NA NA 0 NA NA 0 4 NA 1 1 6.46E-09 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 130916561 C T RIMBP2 CCDS31925.1 r.? - - intronic 48 0 0 46 18 39.1 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 3.124878244 1.041626081 3 1.778491228 1.778491228 1 NA NA 1 NA NA 0 4 NA 1 1 9.41E-30 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 130933012 A T SMPD4 CCDS42751.1 r.? - - intronic 50 0 0 40 13 32.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.94740519 0.973702595 2 2.643789474 0.881263158 3 NA NA 0 NA NA 1 4 NA 1 1 1.30E-20 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 131065873 C T - - - - - - 42 0 0 36 7 19.4 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.774451098 0.774451098 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 131318625 T C - - - - - - 35 1 2.9 47 19 40.4 45 8 17.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.420774451 1.210387226 2 1.917403509 0.958701754 2 NA NA 1 NA NA 1 4 NA 0.16091139 1 1.16E-31 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 131424924 C T - - - - - - 20 0 0 37 13 35.1 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 2.103197605 1.051598802 2 1.341052632 1.341052632 1 NA NA 0 NA NA 1 4 NA 1 1 3.89E-21 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 131462654 G C - - - - - - 59 0 0 55 26 47.3 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.834223553 1.417111776 2 2.219017544 1.109508772 2 NA NA 1 NA NA 1 4 NA 1 1 4.61E-45 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 131535961 T A - - - - - - 31 0 0 42 12 28.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.941333333 1.941333333 1 NA NA 0 NA NA 1 4 NA 1 1 2.35E-18 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 131562963 A G - - - - - - 29 0 0 42 13 31 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 2.247859649 1.123929825 2 NA NA 0 NA NA 1 4 NA 1 1 2.72E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 131583028 C G P4HA2 ENST00000439698 r.? - - intronic 34 0 0 34 10 29.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.173652695 1.173652695 1 0.605263158 0.605263158 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-15 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 131602825 G A ARHGEF4 ENST00000409359 r.? - - intronic 27 0 0 39 12 30.8 27 6 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 2.835368421 0.945122807 3 NA NA 0 NA NA 1 4 NA 1 1 8.43E-19 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 131623968 A C CPNE4 CCDS3072.1 r.? - - intronic 46 0 0 58 12 20.7 36 9 25 87 0 0 220 32 14.5 184 17 9.2 8.58E-12 TRUE TRUE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.106081197 1.106081197 1 2.942982456 0.980994152 3 0.774791177 0.774791177 1 1.083017544 1.083017544 1 4 3 1 1 1.76E-16 3.01E-36 1.63E-13 1.44E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 10 131703950 C T EBF3 CCDS31314.1 r.? - - intronic 31 0 0 21 10 47.6 19 5 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.900199601 0.9500998 2 2.307017544 1.153508772 2 NA NA 1 NA NA 1 4 NA 1 1 3.28E-18 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 131764665 C T - - - - - - 41 0 0 28 8 28.6 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 1.622807018 1.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.11E-12 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 75868657 G A - - - - - - 24 0 0 35 21 60 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 4.623832138 0.924766428 5 2.597102957 2.597102957 1 NA NA 0 NA NA 0 4 NA 1 1 1.03E-39 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 285447 C T - - - - - - 34 0 0 39 13 33.3 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.329341317 1.329341317 1 0.57654386 0.57654386 1 NA NA 0 NA NA 1 4 NA 1 1 8.79E-21 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 131942529 G C IER5L CCDS43888.1 r.? - - upstream 25 0 0 32 9 28.1 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.121756487 1.121756487 1 1.798912281 1.798912281 1 NA NA 0 NA NA 1 4 NA 1 1 4.94E-14 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 31746612 T C ACCN1 CCDS42296.1 r.? - - intronic 61 0 0 34 11 32.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 1.293413174 1.293413174 1 1.441865369 1.441865369 1 NA NA 0 NA NA 0 4 NA 1 1 1.26E-17 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 131944212 G A - - - - - - 54 0 0 36 7 19.4 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.968451098 0.968451098 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 132013837 C T OPCML CCDS8491.1 r.? - - intronic 53 0 0 48 17 35.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 2.531403509 0.84380117 3 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 1162689 C T - - - - - - 54 0 0 39 9 23.1 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0.922155689 0.922155689 1 1.250807018 1.250807018 1 NA NA 0 NA NA 1 4 NA 1 1 3.62E-13 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 132064489 A T - - - - - - 34 0 0 25 13 52 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.075848303 1.037924152 2 2.087719298 2.087719298 1 NA NA 1 NA NA 1 4 NA 1 1 6.00E-24 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 4867538 A G - - - - - - 57 0 0 41 11 26.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.069860279 1.069860279 1 1.631912281 1.631912281 1 NA NA 0 NA NA 1 4 NA 1 1 1.34E-16 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 132172610 T G DNAJC13 CCDS33857.1 r.? - - intronic 63 0 0 42 10 23.8 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.271726208 1.271726208 1 1.035929825 1.035929825 1 NA NA 0 NA NA 1 4 NA 1 1 1.24E-14 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 132213952 A G - - - - - - 16 0 0 28 5 17.9 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.714570858 0.714570858 1 2.531403509 2.531403509 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000279 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 132252395 A G AFF4 CCDS4164.1 r.? - - intronic 36 0 0 21 13 61.9 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.471057884 1.235528942 2 1.368421053 1.368421053 1 NA NA 1 NA NA 1 4 NA 1 1 2.39E-25 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 132307067 C T PLXNA4 CCDS43646.1 r.? - - intronic 51 0 0 55 10 18.2 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.33E-13 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 132309443 G A ENSG00000183715 CCDS8492.1 r.? - - intronic 42 0 0 53 7 13.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.85E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 132345147 C T - - - - - - 43 0 0 25 7 28 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.117764471 1.117764471 1 0.570912281 0.570912281 1 NA NA 0 NA NA 1 4 NA 1 1 3.47E-11 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 132352878 C A - - - - - - 47 0 0 37 6 16.2 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.808706587 0.808706587 1 0.27239471 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.18E-08 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 5145856 T C ENSG00000231824 ENST00000434239 r.? - - upstream 43 0 0 29 13 44.8 26 11 42.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 1.788423154 0.894211577 2 4.133526316 1.377842105 3 NA NA 0 NA NA 1 4 NA 1 1 7.69E-23 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 20297014 T C - - - - - - 60 0 0 51 31 60.8 39 15 38.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 4 5 0 0 1 1 NA NA NA NA NA NA 3.643145709 0.910786427 4 4.532192982 0.906438596 5 NA NA 0 NA NA 1 4 NA 1 1 3.28E-58 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 132460934 C A - - - - - - 48 0 0 30 5 16.7 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.833666667 0.833666667 1 0.642520956 0.642520956 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000401 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 132488763 A C - - - - - - 53 0 0 58 5 8.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.429313373 0.429313373 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000115 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 132555493 G A ENSG00000183715 CCDS8492.1 r.? - - intronic 42 0 0 41 14 34.1 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.043277445 1.021638723 2 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 1.90E-22 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 132556576 C G - - - - - - 49 0 0 36 5 13.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.69389022 0.69389022 1 1.08018592 1.08018592 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000104 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 132564016 A G EP400 CCDS31929.1 r.11276a>g c.? p.? 3'UTR variant 27 0 0 44 22 50 40 14 35 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 3.996007984 0.999001996 4 3.420175439 1.710087719 2 NA NA 1 NA NA 0 4 NA 1 1 4.51E-39 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 132653730 G C - - - - - - 66 0 0 54 39 72.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.616694221 1.048701132 4.402297358 1.639321027 1.639321027 1 NA NA 0 NA NA 0 4 NA 1 1 1.46E-77 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 132674083 C T FSTL4 CCDS34238.1 r.? - - intronic 18 0 0 19 4 21.1 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.842315369 0.842315369 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 132730297 C A ENSG00000183715 CCDS8492.1 r.? - - intronic 62 0 0 51 10 19.6 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 132742264 G A ENSG00000183715 CCDS8492.1 r.? - - intronic 31 0 0 49 6 12.2 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 132762821 A G GPC3 CCDS14638.1 r.? - - intronic 45 0 0 58 15 25.9 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.656127151 0.828063576 2 0.300888037 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.42E-22 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 132764583 A T - - - - - - 75 0 0 43 15 34.9 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 2.091213573 1.045606786 2 2.056280702 2.056280702 1 NA NA 0 NA NA 1 4 NA 1 1 4.05E-24 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 132773631 A T - - - - - - 120 0 0 82 10 12.2 82 4 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0.625824561 0.625824561 1 NA NA 0 NA NA 1 4 NA 1 1 1.51E-11 1 0.000801325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 132839551 G A - - - - - - 56 0 0 41 6 14.6 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.728834331 0.728834331 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 132839849 C T GALNT9 CCDS41866.1 r.? - - intronic 20 0 0 50 24 48 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 3.836167665 0.959041916 4 1.221491228 1.221491228 1 NA NA 1 NA NA 0 4 NA 1 1 6.39E-42 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 132875706 G A GPC3 CCDS14638.1 r.? - - intronic 47 0 0 53 40 75.5 33 11 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.827706561 1.096633455 4.402297358 3.455024695 0.958791674 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 7.18E-81 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 132899124 G T GALNT9 CCDS41866.1 r.? - - intronic 16 0 0 46 12 26.1 13 3 23.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 2.085916168 1.042958084 2 2.257315789 2.257315789 1 NA NA 1 NA NA 0 4 NA 1 1 8.12E-18 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 132918709 G A ENSG00000183715 CCDS31722.1 r.? - - intronic 55 0 0 39 14 35.9 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 132976346 G T - - - - - - 48 0 0 42 11 26.2 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.307908184 1.307908184 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.81E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 132990603 G T - - - - - - 40 0 0 32 12 37.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 1.98245614 0.99122807 2 NA NA 1 NA NA 1 4 NA 1 1 5.03E-20 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 133015772 T C VNN1 CCDS5159.1 r.? - - intronic 43 0 0 26 22 84.6 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 3.377245509 1.688622754 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.50E-47 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 133061974 C T - - - - - - 78 0 0 73 8 11 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 0.659121756 0.659121756 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 3.93E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 133070082 C G FBRSL1 CCDS45010.1 r.? - - intronic 11 0 0 35 18 51.4 13 4 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 4.107896208 1.026974052 4 3.009754386 1.504877193 2 NA NA 1 NA NA 0 4 NA 1 1 1.60E-32 1 0.000000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 133089093 C T TCERG1L CCDS7662.2 r.? - - intronic 39 0 0 28 9 32.1 19 5 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.281437126 1.281437126 1 2.307017544 1.153508772 2 NA NA 1 NA NA 1 4 NA 1 1 1.24E-14 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 133099988 T A ENSG00000183715 CCDS31722.1 r.? - - intronic 47 0 0 58 10 17.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.030626747 1.030626747 1 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 4.10E-13 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 133104952 A T OC90 CCDS47920.1 r.? - - intronic 62 0 0 41 10 24.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.218051896 1.218051896 1 1.606189498 1.606189498 1 NA NA 1 NA NA 0 4 NA 1 1 9.51E-15 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 32377196 A G DTNA CCDS45848.1 r.? - - intronic 52 0 0 36 22 61.1 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.439121756 1.219560878 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 8.46E-42 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 133233373 C G - - - - - - 45 0 0 38 17 44.7 29 1 3.4 36 0 0 177 54 30.5 219 18 8.2 1.52E-11 FALSE TRUE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.231431138 1.115715569 2 0.307686092 NA 0 1.52256487 0.761282435 2 0.742066457 0.742066457 1 NA 3 1 1 1.99E-29 3.79E-79 0.135292269 1.50E-16 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 2 133239064 C A GPR39 CCDS2170.1 r.? - - intronic 44 0 0 47 8 17 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 133276132 C T HMCN2 ENST00000277491 r.? - - intronic 26 0 0 37 13 35.1 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.401197605 1.401197605 1 0.829438596 0.829438596 1 NA NA 0 NA NA 1 4 NA 1 1 3.89E-21 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 133335025 A G ANKLE2 CCDS41869.1 r.? - - intronic 26 0 0 48 26 54.2 48 12 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 4.331672655 1.082918164 4 2.442982456 1.221491228 2 NA NA 1 NA NA 0 4 NA 1 1 3.67E-47 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 133482838 C A - - - - - - 65 0 0 62 8 12.9 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.77297006 0.77297006 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 133507354 A G EXOC4 CCDS5829.1 r.? - - intronic 69 0 0 40 15 37.5 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 133534593 A T EXOC4 CCDS5829.1 r.? - - intronic 58 0 0 62 17 27.4 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.641812375 0.820906188 2 2.983824561 1.491912281 2 NA NA 1 NA NA 1 4 NA 1 1 4.56E-25 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 133589773 G C - - - - - - 20 0 0 59 7 11.9 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.7130499 0.7130499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.12E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 133688752 G A LRRC6 CCDS6365.1 r.? - - upstream 49 0 0 49 14 28.6 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.427716567 1.427716567 1 2.113407234 1.056703617 2 NA NA 1 NA NA 0 4 NA 1 1 3.50E-21 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 133699714 T C CDKL3 CCDS47264.1 r.? - - intronic 30 0 0 32 6 18.8 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750499002 0.750499002 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.27E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 133702397 A G ZNF268 CCDS9283.1 r.? - - upstream 48 0 0 49 14 28.6 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 2.285716567 1.142858283 2 1.358298246 1.358298246 1 NA NA 1 NA NA 0 4 NA 1 1 3.50E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 133721374 C A ABL1 CCDS35166.1 r.? - - intronic 38 0 0 35 9 25.7 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.025948104 1.025948104 1 1.928175439 1.928175439 1 NA NA 0 NA NA 1 4 NA 1 1 1.23E-13 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 133749623 C G EYA4 CCDS5166.1 r.? - - intronic 63 0 0 41 9 22 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878243513 0.878243513 1 1.052631579 1.052631579 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-13 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 133766026 T G TMEM71 CCDS6366.1 r.? - - intronic 51 0 0 46 4 8.7 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.434305389 0.434305389 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 133806769 G A PHF20L1 CCDS6367.2 r.522g>a c.197G>A p.R66Q missense 43 0 0 32 9 28.1 27 0 0 149 0 0 291 53 18.2 326 24 7.4 7.69E-14 FALSE TRUE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.402756487 1.402756487 1 0 NA 0 0.908546906 0.908546906 1 0.695076157 1.119301107 0.620991218 NA 3 1 1 4.94E-14 1.99E-64 1 1.96E-20 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 12 133822079 C G - - - - - - 32 0 0 46 14 30.4 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 2.429572854 0.809857618 3 0.850157895 0.850157895 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-21 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 35432864 G T - - - - - - 63 1 1.6 32 14 43.8 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.748502994 0.874251497 2 2.464912281 1.23245614 2 NA NA 1 NA NA 1 4 NA 0.27078753 1 2.65E-24 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 133854617 C T LRGUK CCDS5830.1 r.? - - intronic 55 0 0 51 16 31.4 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.881493014 0.940746507 2 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 9.28E-25 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 133925123 C G - - - - - - 55 0 0 46 14 30.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.517572854 1.517572854 1 1.393637004 1.393637004 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-21 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 134028220 G T NUP214 CCDS6940.1 r.? - - intronic 53 0 0 41 16 39 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 1.556886228 1.556886228 1 0.301614035 0.301614035 1 NA NA 0 NA NA 1 4 NA 1 1 1.40E-26 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 134029349 T G NCKAP5 CCDS46418.1 r.? - - intronic 48 0 0 53 8 15.1 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 0.904794411 0.904794411 1 0.306526316 0.306526316 1 NA NA 0 NA NA 1 4 NA 1 1 2.83E-10 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 134160463 T C - - - - - - 32 0 0 31 19 61.3 28 11 39.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.447105788 1.223552894 2 3.447368421 1.723684211 2 NA NA 1 NA NA 1 4 NA 1 1 2.54E-36 1 9.70E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 134207570 T C - - - - - - 56 0 0 41 11 26.8 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.337860279 1.337860279 1 0.361983637 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.34E-16 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 49032662 G T ENSG00000227115 ENST00000435144 r.? - - intronic 44 0 0 27 5 18.5 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.738522954 0.738522954 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000023 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 134253937 G A PCBD2 CCDS43364.1 r.? - - intronic 32 0 0 45 22 48.9 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.952095808 0.976047904 2 1.140350877 1.140350877 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-39 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 134270969 A G B3GAT1 CCDS8500.1 r.? - - intronic 48 0 0 53 16 30.2 35 3 8.6 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.809588822 0.904794411 2 0.926385965 0.926385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.90E-24 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 36841912 G T AC105201.1 ENST00000510201 r.? - - intronic 39 0 0 30 15 50 29 11 37.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.324561404 1.662280702 2 NA NA 1 NA NA 1 4 NA 1 1 4.41E-27 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 134416847 A C EPHB1 ENST00000460895 r.? - - intronic 28 0 0 35 4 11.4 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.609146167 0.609146167 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 134442791 C T - - - - - - 17 0 0 35 5 14.3 14 2 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000895 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 134461691 T G RAPGEF1 CCDS48048.1 r.? - - intronic 13 0 0 46 4 8.7 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 0.956305389 0.956305389 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 134496095 C G CALD1 CCDS5836.1 r.? - - intronic 51 0 0 51 22 43.1 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.582558882 1.291279441 2 2.025122807 2.025122807 1 NA NA 1 NA NA 1 4 NA 1 1 3.24E-37 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 134528555 C T RAPGEF1 CCDS48048.1 r.? - - intronic 46 0 0 83 25 30.1 57 14 24.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 3.308596806 1.102865602 3 2.649894737 0.883298246 3 NA NA 1 NA NA 0 4 NA 1 1 2.44E-37 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 134546691 G A - - - - - - 17 0 0 30 22 73.3 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.392147705 1.098036926 4 3.382385965 1.127461988 3 NA NA 1 NA NA 1 4 NA 1 1 1.34E-44 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 134581956 C T SGK1 CCDS47476.1 r.? - - intronic 40 0 0 27 19 70.4 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.810379242 1.405189621 2 2.807017544 1.403508772 2 NA NA 1 NA NA 1 4 NA 1 1 4.08E-38 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 134639348 C T - - - - - - 22 0 0 78 8 10.3 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 1.132177645 1.132177645 1 0.850982456 0.850982456 1 NA NA 1 NA NA 0 4 NA 1 1 6.71E-09 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 134644456 G A - - - - - - 51 0 0 54 17 31.5 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.57248503 0.786242515 2 0.751116047 0.751116047 1 NA NA 1 NA NA 0 4 NA 1 1 3.02E-26 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 134677840 G T - - - - - - 41 0 0 54 6 11.1 47 10 21.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 1.220113772 1.220113772 1 2.294421053 1.147210526 2 NA NA 1 NA NA 0 4 NA 1 1 0.000000329 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 37863602 G A - - - - - - 43 0 0 30 12 40 10 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 0.798403194 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.94E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 134764923 C G - - - - - - 53 0 0 28 8 28.6 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.11E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 134795904 T C - - - - - - 60 0 0 37 20 54.1 33 3 9.1 123 0 0 249 95 38.2 196 13 6.6 1.23E-07 TRUE TRUE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.700680639 1.350340319 2 0.823512775 0.823512775 1 1.9069501 0.95347505 2 0.597273002 0.597273002 1 4 3 1 1 1.40E-36 4.76E-149 0.000609557 3.52E-11 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 134837608 G A - - - - - - 37 0 0 40 32 80 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 5.115450661 1.161995714 4.402297358 3.455024695 0.958791674 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 1.72E-66 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 134863820 C A - - - - - - 29 0 0 29 8 27.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.377796407 1.377796407 1 2.273086892 1.136543446 2 NA NA 1 NA NA 0 4 NA 1 1 1.53E-12 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 134865225 A T EPHB1 CCDS46921.1 r.? - - intronic 40 0 0 48 15 31.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.667136877 1.011226505 1.648628541 2.613368421 0.871122807 3 NA NA 0 NA NA 1 4 NA 1 1 2.86E-23 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 134920419 T C EPHB1 CCDS46921.1 r.2604u>c c.2234T>C p.L745P missense 45 0 0 40 11 27.5 32 4 12.5 299 0 0 470 163 34.7 503 106 21.1 2.57E-103 TRUE TRUE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.469431542 1.469431542 1 1.471491228 1.471491228 1 1.854155437 0.927077719 2 2.483877193 0.827959064 3 4 3 1 1 9.88E-17 4.01E-246 0.0000201 2.29E-134 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 134953597 T C MGAT5 CCDS2171.1 r.? - - intronic 45 0 0 52 12 23.1 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 1.384155689 1.384155689 1 0.306526316 0.306526316 1 NA NA 0 NA NA 1 4 NA 1 1 4.19E-17 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 135021079 C G KNDC1 CCDS7674.1 r.? - - intronic 9 0 0 27 13 48.1 9 1 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.920159681 0.96007984 2 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 2.29E-23 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 135021080 A G KNDC1 CCDS7674.1 r.? - - intronic 9 0 0 27 13 48.1 8 1 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.920159681 0.96007984 2 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.29E-23 1 0.039306956 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 135075165 C A - - - - - - 56 0 0 42 6 14.3 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.713858283 0.713858283 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 135077879 T C - - - - - - 48 0 0 42 13 31 25 0 0 68 0 0 356 62 17.4 317 30 9.5 6.06E-20 FALSE TRUE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.54752495 1.54752495 1 0 NA 0 0.868610778 0.868610778 1 0.859711139 0.859711139 1 NA 3 1 1 2.72E-20 8.83E-74 1 2.28E-28 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 4 135081770 G A - - - - - - 36 0 0 39 7 17.9 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.893570858 0.893570858 1 0.624421774 0.624421774 1 NA NA 1 NA NA 0 4 NA 1 1 1.04E-09 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 40102319 A G - - - - - - 56 0 0 27 12 44.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-21 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 135471891 T A - - - - - - 49 0 0 62 22 35.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.896902537 0.948451268 2 3.119561404 1.039853801 3 NA NA 0 NA NA 1 4 NA 1 1 6.75E-35 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 135520912 C T DDX31 CCDS6951.1 r.? - - intronic 32 0 0 56 39 69.6 44 17 38.6 0 0 NA 2 2 100 0 0 NA 1 TRUE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 7.650443114 1.092920445 7 4.157964912 1.385988304 3 10.99201597 1.570287995 7 NA NA 0 4 NA 1 1 1.64E-76 0.000025 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 135555800 A G ZFAT CCDS47924.1 r.? - - intronic 50 0 0 34 11 32.4 40 10 25 0 0 NA 0 0 NA 1 1 100 0.01 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.617413174 1.617413174 1 2.348230261 1.17411513 2 NA NA 1 9.392921042 9.392921042 1 4 NA 1 1 1.26E-17 1 7.22E-15 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 135595401 G T TRPC7 CCDS47267.1 r.? - - intronic 45 0 0 29 15 51.7 24 9 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.063872255 1.031936128 2 3.289473684 1.644736842 2 NA NA 1 NA NA 1 4 NA 1 1 2.22E-27 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 135653666 C T ACMSD CCDS2173.2 r.? - - intronic 56 0 0 51 7 13.7 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 4 2 2 1 1 NA NA NA NA NA NA 0.820906188 0.820906188 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.46E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 135654631 C G - - - - - - 36 0 0 44 7 15.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.849598601 0.849598601 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 135674508 G A C9orf98 CCDS6954.1 r.? - - intronic 15 0 0 39 16 41 10 3 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 4.506726547 0.901345309 5 3.231578947 1.077192982 3 NA NA 1 NA NA 0 4 NA 1 1 5.16E-27 1 0.0000146 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 135706208 G T CCNT2 CCDS2174.1 r.? - - intronic 28 0 0 57 9 15.8 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 4 2 2 1 1 NA NA NA NA NA NA 0.946738523 0.946738523 1 1.647578947 1.647578947 1 NA NA 0 NA NA 1 4 NA 1 1 1.42E-11 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 135730912 T A PPP2R3A CCDS3087.1 r.? - - intronic 45 0 0 53 13 24.5 31 5 16.1 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.30912992 1.30912992 1 1.895280702 1.895280702 1 0 NA 0 NA NA 1 4 NA 1 1 8.53E-19 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 135759123 G A - - - - - - 36 0 0 38 5 13.2 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.526946108 0.526946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 135926264 C T - - - - - - 32 0 0 21 8 38.1 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.520958084 1.520958084 1 1.649122807 1.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 7.50E-14 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 136000510 G A - - - - - - 42 0 0 19 10 52.6 25 8 32 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.099800399 1.0499002 2 2.807017544 1.403508772 2 NA NA 1 NA NA 1 4 NA 1 1 8.66E-19 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 136062206 C T - - - - - - 19 0 0 42 5 11.9 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 1.3080499 1.3080499 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 136105588 G A - - - - - - 46 0 0 56 10 17.9 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.893570858 0.893570858 1 0.300573473 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.82E-13 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 46076944 C T KIAA0427 CCDS45864.1 r.? - - intronic 31 0 0 27 10 37 23 8 34.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.477045908 1.477045908 1 3.052631579 1.526315789 2 NA NA 1 NA NA 1 4 NA 1 1 7.62E-17 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 136233502 G T ZRANB3 CCDS46419.1 r.? - - intronic 42 0 0 40 5 12.5 25 2 8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 4 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 1.021754386 1.021754386 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000178 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 136273384 T C - - - - - - 53 0 0 28 8 28.6 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141716567 1.141716567 1 0.263157895 0.263157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.11E-12 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 136341104 C T R3HDM1 CCDS2177.1 r.? - - intronic 44 0 0 40 6 15 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 4 2 2 1 1 NA NA NA NA NA NA 0.898802395 0.898802395 1 0.676912281 0.676912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.18E-08 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 136386046 C A - - - - - - 53 0 0 50 5 10 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.639431333 0.639431333 1 0.383891633 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000549 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 136401870 G C - - - - - - 62 0 0 46 24 52.2 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.605832335 1.302916168 2 0.506777092 0.506777092 1 NA NA 1 NA NA 0 4 NA 1 1 4.23E-43 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 136447533 G T FAM163B CCDS35171.1 r.? - - intronic 15 0 0 47 5 10.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 4 7 3 2 1 1 1 NA NA NA NA NA NA 1.165153693 1.165153693 1 0.398561404 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000402 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 136492732 T A - - - - - - 54 0 0 48 21 43.8 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.186502994 1.093251497 2 2.180951415 1.706987401 1.277661109 NA NA 1 NA NA 0 4 NA 1 1 9.35E-36 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 58558514 C A - - - - - - 53 0 0 27 14 51.9 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.071856287 1.035928144 2 2.631578947 1.315789474 2 NA NA 1 NA NA 1 4 NA 1 1 1.15E-25 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 136617821 G A MCM6 CCDS2179.1 r.? - - intronic 24 0 0 60 16 26.7 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 6 2 4 2 2 1 1 NA NA NA NA NA NA 1.599868263 0.799934132 2 2.222315789 2.222315789 1 NA NA 0 NA NA 1 4 NA 1 1 1.86E-23 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 62764278 C A - - - - - - 36 0 0 37 18 48.6 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.94011976 0.97005988 2 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 6.16E-32 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 136851184 T A - - - - - - 46 0 0 40 18 45 39 13 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.246407186 1.123203593 2 3.127842707 1.563921354 2 NA NA 1 NA NA 0 4 NA 1 1 3.90E-31 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 136873980 C A - - - - - - 55 0 0 31 6 19.4 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.968451098 0.968451098 1 0.262438137 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.03E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 136878534 T A - - - - - - 45 0 0 49 6 12.2 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.780106226 0.780106226 1 0.321638936 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000182 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 136906219 T G - - - - - - 53 0 0 43 10 23.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.24500927 1.24500927 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.61E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 137047193 C A - - - - - - 40 0 0 34 8 23.5 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.173123752 1.173123752 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 6.32E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 137181560 A C - - - - - - 43 0 0 36 8 22.2 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.186232009 1.186232009 1 1.106561404 1.106561404 1 NA NA 0 NA NA 1 4 NA 1 1 1.04E-11 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 63346983 C T - - - - - - 55 0 0 44 17 38.6 28 10 35.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.540918164 0.770459082 2 3.131578947 1.565789474 2 NA NA 1 NA NA 1 4 NA 1 1 4.61E-28 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 137243840 A T - - - - - - 57 0 0 47 20 42.6 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.126598802 1.063299401 2 1.294091503 1.294091503 1 NA NA 1 NA NA 0 4 NA 1 1 8.18E-34 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 137248131 C A - - - - - - 43 0 0 42 11 26.2 32 3 9.4 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.399967506 1.399967506 1 1.106561404 1.106561404 1 NA NA 0 0 0 1 4 NA 1 1 1.81E-16 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 137374481 G A - - - - - - 57 0 0 52 6 11.5 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.614489554 0.614489554 1 0.447333333 0.447333333 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000261 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 137423811 C T - - - - - - 58 0 0 57 13 22.8 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.138179641 1.138179641 1 0.854755815 0.854755815 1 NA NA 1 NA NA 0 4 NA 1 1 2.44E-18 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 52214666 G A - - - - - - 34 0 0 44 6 13.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.542914172 0.542914172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 137491023 T A - - - - - - 31 0 0 47 15 31.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.704540589 1.033914279 1.648628541 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.97E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 137570714 C T THSD7B ENST00000409968 r.? - - intronic 48 0 0 65 18 27.7 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.213788423 1.106894212 2 2.069052632 2.069052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.52E-26 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 137574650 T A - - - - - - 46 0 0 50 10 20 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.278862665 1.278862665 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.36E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 137593166 C T - - - - - - 46 0 0 40 16 40 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.996806387 0.998403194 2 1.674174323 1.674174323 1 NA NA 1 NA NA 0 4 NA 1 1 8.56E-27 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 137638654 C A - - - - - - 39 0 0 55 20 36.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.817093812 0.908546906 2 1.511281686 1.511281686 1 NA NA 1 NA NA 0 4 NA 1 1 4.08E-32 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 64442740 T C - - - - - - 44 0 0 27 12 44.4 31 11 35.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 3.114035088 1.557017544 2 NA NA 1 NA NA 1 4 NA 1 1 3.96E-21 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 137671893 G A THSD7B ENST00000409968 r.? - - intronic 54 0 0 79 6 7.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.607393214 0.607393214 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000318 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 137724839 G T COL5A1 CCDS6982.1 r.? - - intronic 12 0 0 36 16 44.4 27 3 11.1 326 0 0 23 7 30.4 18 7 38.9 2.89E-10 TRUE TRUE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 4.43645509 1.109113772 4 1.492713136 1.492713136 1 3.037572854 1.012524285 3 5.23121991 1.423098642 3.675936267 4 3 1 1 1.01E-27 1.79E-11 0.000334187 2.37E-12 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 137792589 T C AKR1D1 CCDS5846.1 r.? - - intronic 54 0 0 41 25 61 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.435129741 1.21756487 2 1.166666667 1.166666667 1 NA NA 1 NA NA 1 4 NA 1 1 2.84E-47 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 137986711 G A - - - - - - 53 0 0 43 11 25.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.277956088 1.277956088 1 0.334834865 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.42E-16 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 69820814 C T - - - - - - 41 0 0 37 20 54.1 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.159680639 1.079840319 2 1.052631579 1.052631579 1 NA NA 1 NA NA 1 4 NA 1 1 1.40E-36 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 138061917 A G - - - - - - 49 0 0 26 13 50 23 8 34.8 0 0 NA 0 0 NA 4 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.052631579 1.526315789 2 NA NA 1 0 0 1 4 NA 1 1 1.20E-23 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 138072113 C A THSD7B ENST00000409968 r.? - - intronic 38 0 0 56 6 10.7 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.855145709 0.855145709 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000409 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 138100476 C A - - - - - - 52 0 0 36 8 22.2 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.108227545 1.108227545 1 1.45698414 1.45698414 1 NA NA 1 NA NA 0 4 NA 1 1 1.04E-11 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138138409 C A - - - - - - 45 0 0 44 18 40.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.041734531 1.020867265 2 1.944334656 1.944334656 1 NA NA 1 NA NA 0 4 NA 1 1 3.47E-30 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138262464 C T - - - - - - 46 0 0 42 11 26.2 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.307908184 1.307908184 1 1.408938156 1.408938156 1 NA NA 1 NA NA 0 4 NA 1 1 1.81E-16 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138427717 A C - - - - - - 53 0 0 35 16 45.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.281351297 1.140675649 2 3.015127655 1.507563827 2 NA NA 1 NA NA 0 4 NA 1 1 5.66E-28 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 74457083 G C - - - - - - 32 0 0 34 10 29.4 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.173652695 1.173652695 1 1.052631579 1.052631579 1 NA NA 1 NA NA 1 4 NA 1 1 1.15E-15 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 138468326 A T - - - - - - 44 0 0 51 4 7.8 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.498756439 0.498756439 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000129466 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 138595403 C T KIAA1549 CCDS47723.1 r.? - - intronic 41 0 0 28 18 64.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.566866267 1.283433134 2 1.622807018 1.622807018 1 NA NA 1 NA NA 1 4 NA 1 1 4.77E-35 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138641991 C G - - - - - - 42 0 0 41 11 26.8 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.337860279 1.337860279 1 1.681332867 1.681332867 1 NA NA 1 NA NA 0 4 NA 1 1 1.34E-16 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 138690804 G A - - - - - - 21 1 4.8 29 10 34.5 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.722245509 0.861122754 2 1.004504594 1.004504594 1 NA NA 1 NA NA 0 4 NA 0.099912572 1 1.79E-16 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 138903710 G A NACC2 CCDS6993.1 r.1475c>u c.1416C>T p.S472S silent 12 0 0 60 7 11.7 6 2 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 1.169065868 1.169065868 1 4.478139409 4.478139409 1 NA NA 1 NA NA 0 4 NA 1 1 2.39E-08 1 0.000370028 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138907436 G C - - - - - - 51 0 0 47 4 8.5 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.424321357 0.424321357 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 830042 A T AZU1 CCDS12044.1 r.? - - intronic 15 0 0 55 4 7.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 9 5.384331439 6 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.802417166 0.802417166 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000173903 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 138958062 T A - - - - - - 64 0 0 65 5 7.7 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.61538523 0.61538523 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 138985363 G A - - - - - - 59 0 0 55 9 16.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.818690619 0.818690619 1 1.925548814 0.962774407 2 NA NA 1 NA NA 0 4 NA 1 1 1.01E-11 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 6787337 C G VAV1 CCDS12174.1 r.? - - intronic 36 0 0 25 7 28 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.077770333 1.038885166 2 0.644281847 0.644281847 1 NA NA 1 NA NA 0 4 NA 1 1 3.47E-11 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139158191 T C FAM135B CCDS6375.2 r.? - - intronic 51 0 0 54 15 27.8 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.387780439 1.387780439 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.20E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139164650 T C FAM135B CCDS6375.2 r.2241a>g c.2068A>G p.S690G missense 38 0 0 35 5 14.3 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.713858283 0.713858283 1 0.347538079 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000895 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 7930092 G A EVI5L CCDS12188.1 r.? - - downstream 15 0 0 30 9 30 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 2.226182499 0.91665548 2.428592363 0.607813063 0.607813063 1 NA NA 0 NA NA 1 4 NA 1 1 2.54E-14 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 8452729 G A RAB11B CCDS12201.1 r.? - - upstream 30 0 0 43 5 11.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 0.860790566 0.860790566 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 139405955 G C HIPK2 ENST00000406875 r.? - - intronic 41 0 0 28 16 57.1 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 1.99122807 1.99122807 1 NA NA 1 NA NA 1 4 NA 1 1 4.39E-30 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 139480664 C T NXPH2 CCDS46421.1 r.? - - intronic 49 0 0 64 10 15.6 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.246754491 1.246754491 1 1.775298246 1.775298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-12 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 139485819 T G NXPH2 CCDS46421.1 r.? - - intronic 44 0 0 75 16 21.3 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.702299401 0.851149701 2 3.192982456 1.064327485 3 NA NA 1 NA NA 1 4 NA 1 1 9.88E-22 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139501741 T A FAM135B CCDS6375.2 r.? - - intronic 45 0 0 38 6 15.8 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.788738523 0.788738523 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.76E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 139502537 A G NXPH2 CCDS46421.1 r.? - - intronic 45 0 0 84 7 8.3 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.663337325 0.663337325 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000253 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 14006091 T C C19orf57 CCDS12299.1 r.? - - intronic 32 0 0 33 18 54.5 22 7 31.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.350372916 5.384331439 3 3 0 2 0.649627084 0.615668561 3 4 1 2 0.350372916 0.384331439 2.911601942 0.970533981 3 3.865691082 1.142231827 3.384331439 NA NA 0 NA NA 1 4 NA 1 1 3.68E-33 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 139648437 T C - - - - - - 55 0 0 45 8 17.8 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.888578842 0.888578842 1 1.411736186 1.411736186 1 NA NA 1 NA NA 0 4 NA 1 1 7.14E-11 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139671095 A T COL22A1 CCDS6376.1 r.? - - intronic 48 0 0 36 5 13.9 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.69389022 0.69389022 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 139690834 G T CLSTN2 CCDS3112.1 r.? - - intronic 34 0 0 43 7 16.3 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.870972151 0.870972151 1 0.835807018 0.835807018 1 NA NA 0 NA NA 1 4 NA 1 1 2.15E-09 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 139697786 T A - - - - - - 45 0 0 67 8 11.9 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.9510499 0.9510499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.96E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139722266 C G COL22A1 CCDS6376.1 r.? - - intronic 63 0 0 34 7 20.6 27 3 11.1 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.028355289 1.028355289 1 1.042614236 1.042614236 1 NA NA 1 NA NA 0 4 NA 1 1 3.73E-10 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 139738374 G A COL22A1 CCDS6376.1 r.? - - intronic 38 0 0 45 13 28.9 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.442692615 1.442692615 1 1.108364683 1.108364683 1 NA NA 1 NA NA 0 4 NA 1 1 7.68E-20 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 16358592 A G - - - - - - 14 0 0 37 6 16.2 19 1 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.808706587 0.808706587 1 0.644281847 0.644281847 1 NA NA 0 NA NA 1 4 NA 1 1 3.18E-08 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 139914102 C T CLSTN2 CCDS3112.1 r.? - - intronic 49 0 0 47 10 21.3 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.138141522 1.138141522 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.27E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 139953315 G A SLC35A4 CCDS4231.1 r.? - - downstream 24 0 0 40 23 57.5 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.295409182 1.147704591 2 2.456140351 1.228070175 2 NA NA 1 NA NA 1 4 NA 1 1 9.75E-43 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 139980379 G A UAP1L1 CCDS7028.2 r.? - - downstream 25 0 0 36 19 52.8 25 5 20 205 0 0 13 2 15.4 17 0 0 1 TRUE FALSE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 5.275784431 1.055156886 5 2.689573218 1.005096142 2.675936267 1.538770459 1.538770459 1 0 NA 0 4 NA 1 1 1.51E-34 0.001879825 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 140002253 C T - - - - - - 36 0 0 25 12 48 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.916167665 0.958083832 2 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-21 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 140066420 G T - - - - - - 41 0 0 40 7 17.5 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.873602794 0.873602794 1 0.225430105 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.26E-09 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 140119852 C A - - - - - - 57 0 0 34 15 44.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.201479042 1.100739521 2 1.98190634 0.99095317 2 NA NA 1 NA NA 0 4 NA 1 1 5.18E-26 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 30574829 C G - - - - - - 39 0 0 39 7 17.9 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.20943714 1.20943714 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.04E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 140162786 A G - - - - - - 61 0 0 75 5 6.7 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.53546507 0.53546507 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 140193474 G T C4orf49 CCDS43269.1 r.? - - intronic 33 0 0 37 8 21.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.078275449 1.078275449 1 1.203595594 1.203595594 1 NA NA 1 NA NA 0 4 NA 1 1 1.33E-11 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31158024 C G - - - - - - 32 0 0 34 5 14.7 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 0.993224914 0.993224914 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 31497415 C A - - - - - - 30 0 0 50 6 12 38 2 5.3 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 0.810795848 0.810795848 1 0.676912281 0.676912281 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000206 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 140378676 C T - - - - - - 51 0 0 41 18 43.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 2.34574708 1.17287354 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 6.91E-31 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 140424280 T A PNPLA7 CCDS48070.1 r.? - - intronic 26 0 0 31 9 29 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 2.897684631 0.965894877 3 2.070971378 2.070971378 1 NA NA 1 NA NA 0 4 NA 1 1 3.57E-14 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 33003676 C T - - - - - - 77 0 0 43 10 23.3 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.574295272 1.574295272 1 0.894035088 0.894035088 1 NA NA 0 NA NA 1 4 NA 1 1 1.61E-14 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 140537763 T A - - - - - - 32 0 0 33 10 30.3 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.61904639 1.61904639 1 0.388473684 0.388473684 1 NA NA 0 NA NA 1 4 NA 1 1 8.14E-16 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 140554465 G A PCDHB7 CCDS4249.1 r.2131g>a c.2049G>A p.S683S silent 31 0 0 68 13 19.1 17 3 17.6 144 0 0 45 4 8.9 26 1 3.8 0.229956854 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.76247505 0.76247505 1 1.543859649 1.543859649 1 0.355289421 0.355289421 1 0.333333333 0.333333333 1 4 3 1 1 2.96E-17 0.0000791 0.0000807 0.122190858 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9852b 19 35358482 C T - - - - - - 40 0 0 50 13 26 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.756724338 0.995527774 1.7646161 1.545403509 1.545403509 1 NA NA 0 NA NA 1 4 NA 1 1 3.65E-19 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 140801352 A T - - - - - - 61 0 0 48 14 29.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.333668663 1.166834331 2 2.235087719 1.11754386 2 NA NA 1 NA NA 1 4 NA 1 1 2.51E-21 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 35389777 C A - - - - - - 31 0 0 42 7 16.7 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.128357555 1.128357555 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 141009144 A T - - - - - - 43 0 0 43 4 9.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.594671139 0.594671139 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 141089674 G T - - - - - - 54 1 1.9 20 7 35 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.397205589 1.397205589 1 2.342105263 1.171052632 2 NA NA 1 NA NA 1 4 NA 0.237137336 1 5.72E-12 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 141221965 A G LRP1B CCDS2182.1 r.? - - intronic 29 0 0 54 15 27.8 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.221780439 1.11089022 2 1.456 1.456 1 NA NA 1 NA NA 1 4 NA 1 1 2.20E-22 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 141277462 T C SCOC CCDS3750.1 r.? - - intronic 35 0 0 36 9 25 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.248003992 1.248003992 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.63E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 141292182 G C MAGEC2 CCDS14678.1 r.248c>g c.? p.? 5'UTR variant 21 0 0 46 35 76.1 30 12 40 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.866072441 1.105348423 4.402297358 4.150179814 1.15170171 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 3.68E-71 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 141417458 C T LRP1B CCDS2182.1 r.? - - intronic 43 0 0 65 28 43.1 37 13 35.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 3.444558882 0.861139721 4 4.482947368 1.120736842 4 NA NA 1 NA NA 1 4 NA 1 1 6.12E-47 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 141520515 C A LRP1B CCDS2182.1 r.? - - intronic 43 0 0 55 8 14.5 38 3 7.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.158842315 1.158842315 1 1.008982456 1.008982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.86E-10 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 141594664 C A - - - - - - 39 0 0 29 15 51.7 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.063872255 1.031936128 2 1.5 1.5 1 NA NA 1 NA NA 1 4 NA 1 1 2.22E-27 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 141595019 G A TBC1D9 CCDS47136.1 r.? - - intronic 41 0 0 27 10 37 32 5 15.6 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.847045908 0.923522954 2 1.411736186 1.411736186 1 NA NA 1 NA NA 0 4 NA 1 1 7.62E-17 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 38086203 C A ZNF571 CCDS12505.1 r.? - - upstream 27 0 0 45 17 37.8 24 7 29.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.554006922 0.923819738 2.7646161 3.729403509 1.243134503 3 NA NA 0 NA NA 1 4 NA 1 1 7.37E-28 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 141699742 G T TFDP2 CCDS43159.1 r.? - - intronic 52 0 0 49 8 16.3 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.870972151 0.870972151 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.47E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 141699837 A T LRP1B CCDS2182.1 r.? - - intronic 56 0 0 64 18 28.1 45 3 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.245756487 1.122878244 2 0.855719298 0.855719298 1 NA NA 1 NA NA 1 4 NA 1 1 1.10E-26 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 141779399 A G TFDP2 CCDS43159.1 r.? - - intronic 59 0 0 48 6 12.5 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.667923428 0.667923428 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 141904954 T A GK5 ENST00000392993 r.? - - intronic 57 0 0 37 8 21.6 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.154171684 1.154171684 1 0.329614035 0.329614035 1 NA NA 0 NA NA 1 4 NA 1 1 1.33E-11 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 141992871 A T - - - - - - 57 0 0 58 8 13.8 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.882415239 0.882415239 1 0.373516183 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.99E-10 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 142039347 T A FGF1 CCDS4275.1 r.? - - intronic 40 0 0 31 4 12.9 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.51497006 0.51497006 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 142074465 T C - - - - - - 42 0 0 25 4 16 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.638722555 0.638722555 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 142323193 C G - - - - - - 52 0 0 40 15 37.5 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 2.114035088 1.057017544 2 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 142400563 T A - - - - - - 53 0 0 47 10 21.3 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.361988738 1.361988738 1 3.330519301 0.924240623 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 4.27E-14 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 142412683 A C - - - - - - 59 0 0 51 20 39.2 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.506570824 1.043405728 2.402297358 0.373516183 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.38E-33 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 142414420 C T - - - - - - 20 0 0 45 9 20 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.398403194 1.398403194 1 0.403895605 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.47E-12 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 142452139 C A - - - - - - 49 0 0 57 19 33.3 14 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.129306338 1.064653169 2 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.01E-29 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 142574319 C T - - - - - - 42 0 0 34 11 32.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.265413174 1.132706587 2 1.249258499 1.249258499 1 NA NA 1 NA NA 0 4 NA 1 1 1.26E-17 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 44955274 G A ZNF229 CCDS42574.1 r.? - - upstream 37 0 0 28 12 42.9 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.898595157 1.048462084 2.7646161 1.647578947 1.647578947 1 NA NA 0 NA NA 1 4 NA 1 1 6.90E-21 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 142737054 T G NR3C1 CCDS4278.1 r.? - - intronic 52 0 0 21 10 47.6 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.900199601 0.9500998 2 1.192982456 1.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 3.28E-18 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 142806304 G T LRP1B CCDS2182.1 r.? - - intronic 46 0 0 41 12 29.3 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.755660679 0.877830339 2 2.003578947 1.001789474 2 NA NA 1 NA NA 1 4 NA 1 1 1.69E-18 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 142836782 C T - - - - - - 46 0 0 28 16 57.1 27 11 40.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 3.570175439 1.785087719 2 NA NA 1 NA NA 1 4 NA 1 1 4.39E-30 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 142839153 G C LRP1B CCDS2182.1 r.? - - intronic 42 0 0 68 26 38.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.2889501 1.14447505 2 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 5.33E-42 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 45202899 G A CEACAM16 ENST00000396750 r.? - - intronic 18 0 0 36 6 16.7 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 1.128357555 1.128357555 1 0.983438596 0.983438596 1 NA NA 0 NA NA 1 4 NA 1 1 2.68E-08 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 142867335 C T - - - - - - 47 0 0 31 15 48.4 26 7 26.9 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.932135729 0.966067864 2 2.359649123 1.179824561 2 NA NA 1 NA NA 1 4 NA 1 1 8.51E-27 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 143014668 A G - - - - - - 50 0 0 36 14 38.9 26 8 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.552894212 0.776447106 2 2.701754386 1.350877193 2 NA NA 1 NA NA 1 4 NA 1 1 2.09E-23 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 50789491 G T MYH14 CCDS46151.1 r.? - - intronic 36 0 0 54 18 33.3 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 0.443157895 0.443157895 1 NA NA 0 NA NA 1 4 NA 1 1 3.12E-28 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 143080890 G A - - - - - - 42 0 0 44 19 43.2 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.762343357 0.920781119 3 2.075089907 2.075089907 1 NA NA 0 NA NA 0 4 NA 1 1 2.39E-32 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 143081164 T C INPP4B CCDS47112.1 r.? - - intronic 48 1 2.1 42 20 47.6 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.376199601 1.1880998 2 1.809918187 1.809918187 1 NA NA 1 NA NA 0 4 NA 0.213845552 1 4.41E-35 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 50992650 A G - - - - - - 18 0 0 50 10 20 14 2 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.598403194 1.598403194 1 2.112385965 2.112385965 1 NA NA 0 NA NA 1 4 NA 1 1 8.36E-14 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 51960595 C A SIGLEC8 CCDS33086.1 r.? - - intronic 21 0 0 49 7 14.3 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 0.428385965 0.428385965 1 NA NA 0 NA NA 1 4 NA 1 1 5.58E-09 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 143268752 C A HIVEP2 CCDS43510.1 r.? - - upstream 20 0 0 29 9 31 12 3 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.23752495 1.23752495 1 2.192982456 2.192982456 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-14 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 143331022 G C - - - - - - 40 0 0 40 6 15 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.959146999 0.959146999 1 0.975292256 0.975292256 1 NA NA 0 NA NA 0 4 NA 1 1 5.18E-08 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 143635505 C G - - - - - - 44 0 0 51 4 7.8 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.416784219 1.186164126 0.351371459 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000129466 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 143861539 G A - - - - - - 45 0 0 41 8 19.5 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.041960548 1.041960548 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 3.22E-11 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 143873775 G A - - - - - - 42 0 0 22 13 59.1 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.359281437 1.179640719 2 1.535087719 1.535087719 1 NA NA 1 NA NA 1 4 NA 1 1 5.82E-25 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 143907865 A G - - - - - - 31 0 0 39 7 17.9 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.251570858 1.251570858 1 0.666897394 0.666897394 1 NA NA 1 NA NA 0 4 NA 1 1 1.04E-09 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 143918131 G A FAM72D CCDS44204.1 r.? - - upstream 62 0 0 45 9 20 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.998403194 0.998403194 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.47E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 143947891 G A - - - - - - 37 0 0 35 7 20 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.278862665 1.278862665 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 4.65E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 52855611 C T ZNF610 CCDS12851.1 r.? - - intronic 28 0 0 32 8 25 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.998003992 0.999001996 2 2.215789474 2.215789474 1 NA NA 0 NA NA 1 4 NA 1 1 3.69E-12 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 143999192 T C - - - - - - 53 0 0 47 35 74.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.763763428 1.082108508 4.402297358 2.137342604 1.068671302 2 NA NA 1 NA NA 0 4 NA 1 1 1.43E-70 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 53428810 G T ZNF320 CCDS33095.1 r.? - - intronic 44 0 0 56 8 14.3 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.142858283 1.142858283 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.48E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 144042603 A G ENSG00000233536 ENST00000441886 r.? - - intronic 52 0 0 41 16 39 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 2.726886228 0.908962076 3 2.057049708 1.028524854 2 NA NA 1 NA NA 0 4 NA 1 1 1.40E-26 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 144096301 T A - - - - - - 63 0 0 61 16 26.2 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.675310091 0.837655046 2 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.50E-23 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 144101530 A G - - - - - - 53 0 0 55 36 65.5 43 13 30.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.188275228 1.047068807 4 3.13338576 1.04446192 3 NA NA 0 NA NA 0 4 NA 1 1 3.72E-69 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 144159915 G T - - - - - - 46 0 0 37 12 32.4 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.731257526 1.050119832 1.648628541 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 4.03E-19 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 144232063 G C - - - - - - 30 0 0 34 9 26.5 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 2.620991218 3 2 2 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 1.852884232 0.926442116 2 0.263001789 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.15E-14 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 144325343 G A ARHGAP15 CCDS2184.1 r.? - - intronic 42 0 0 49 14 28.6 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 2.833017544 1.416508772 2 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 144459742 G T - - - - - - 48 0 0 33 11 33.3 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.779348013 1.079289827 1.648628541 1.412631579 1.412631579 1 NA NA 0 NA NA 1 4 NA 1 1 8.54E-18 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 144473186 A T - - - - - - 65 0 0 29 11 37.9 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.512974052 1.512974052 1 1.596491228 1.596491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.56E-18 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 144537963 A C - - - - - - 37 0 0 44 5 11.4 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.68308982 0.68308982 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 144682371 G A - - - - - - 48 0 0 44 5 11.4 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.56908982 0.56908982 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 144767837 C T GTDC1 CCDS33300.1 r.? - - intronic 45 0 0 44 12 27.3 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 0.81791018 2 1.615789474 1.615789474 1 NA NA 1 NA NA 1 4 NA 1 1 4.44E-18 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 144847525 T C - - - - - - 59 0 0 51 39 76.5 34 12 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.891649694 1.111158401 4.402297358 3.662533686 1.016376759 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 2.72E-79 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 53574473 T C ZNF320 CCDS33095.1 r.? - - intronic 40 0 0 39 17 43.6 44 15 34.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 3.484518962 0.871129741 4 5.03722807 1.007445614 5 NA NA 0 NA NA 1 4 NA 1 1 3.51E-29 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 144885759 G A - - - - - - 74 0 0 36 16 44.4 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.77245509 0.886227545 2 2.543859649 1.271929825 2 NA NA 1 NA NA 1 4 NA 1 1 1.01E-27 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 144892910 G C UTRN CCDS34547.1 r.? - - intronic 52 0 0 44 21 47.7 32 11 34.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.904191617 0.952095808 2 3.01754386 1.50877193 2 NA NA 1 NA NA 1 4 NA 1 1 8.60E-37 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 144922271 C T GYPB CCDS3085.1 r.? - - intronic 39 0 0 45 18 40 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.996806387 0.998403194 2 0.877810321 0.877810321 1 NA NA 1 NA NA 0 4 NA 1 1 5.76E-30 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 144930350 A G PDE4DIP CCDS30824.1 r.? - - intronic 120 0 0 98 15 15.3 86 14 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.763778443 0.763778443 1 1.918824561 0.959412281 2 NA NA 0 NA NA 1 4 NA 1 1 3.78E-18 1 1.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 145010620 C T PLEC CCDS43772.1 r.? - - intronic 11 0 0 35 9 25.7 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 10.71757322 2.620991218 8 2 2 0 0.282426781 0.379008782 8 2 3 1 0.717573219 0.620991218 3.266364421 0.99510656 3.282426781 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.23E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 145157087 G A - - - - - - 41 0 0 36 15 41.7 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 2.228192557 1.114096279 2 1.035929825 1.035929825 1 NA NA 0 NA NA 1 4 NA 1 1 1.54E-25 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 145157796 G A PRELID2 CCDS34262.1 r.? - - intronic 20 0 0 45 9 20 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.47E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 145168135 G C ZEB2 CCDS2186.1 r.? - - intronic 45 0 0 36 17 47.2 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.828231537 1.414115768 2 3.490105263 1.745052632 2 NA NA 1 NA NA 1 4 NA 1 1 6.00E-30 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 145174929 C T - - - - - - 43 0 0 79 15 19 57 5 8.8 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.948483034 0.948483034 1 1.035929825 1.035929825 1 NA NA 0 NA NA 1 4 NA 1 1 1.22E-19 1 0.0000105 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 145193348 T C - - - - - - 134 0 0 126 9 7.1 97 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.354433134 0.354433134 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000019 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 145291532 C T - - - - - - 40 0 0 50 29 58 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 3.708701729 0.927175432 4 2.832497723 0.944165908 3 NA NA 0 NA NA 0 4 NA 1 1 1.13E-53 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 145358637 T A - - - - - - 53 0 0 34 5 14.7 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.733826347 0.733826347 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 145405510 G A - - - - - - 33 0 0 34 20 58.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.347305389 1.173652695 2 1.815789474 1.815789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.24E-37 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 145427654 G A - - - - - - 47 0 0 40 10 25 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.335846857 1.335846857 1 0.329614035 0.329614035 1 NA NA 0 NA NA 1 4 NA 1 1 7.22E-15 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 53762130 G A VN1R2 CCDS12862.1 r.586g>a c.502G>A p.A168T missense 47 0 0 53 15 28.3 38 1 2.6 293 4 1.4 231 43 18.6 245 13 5.3 1.55E-06 TRUE TRUE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 2.261740519 1.130870259 2 0.384070175 0.384070175 1 1.48651497 0.743257485 2 0.782912281 0.782912281 1 4 3 1 0.060860517 1.60E-22 4.98E-53 0.173434892 5.54E-10 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 5 145605772 T G RBM27 CCDS43378.1 r.? - - intronic 42 0 0 34 18 52.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.111776447 1.055888224 2 1.570175439 1.570175439 1 NA NA 1 NA NA 1 4 NA 1 1 7.79E-33 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 145622287 T G - - - - - - 41 0 0 28 6 21.4 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.36E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 145626616 G A - - - - - - 23 0 0 13 9 69.2 13 2 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.76247505 1.381237525 2 1.350877193 1.350877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.37E-18 1 0.001879825 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 145670938 G A RNF115 CCDS922.1 r.? - - intronic 16 0 0 26 8 30.8 7 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.537540918 1.537540918 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 5.63E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 145703240 C T KIFC2 CCDS6427.1 r.? - - downstream 16 0 0 30 6 20 3 0 0 1 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 10.71757322 2.620991218 8 2 2 0 0.282426781 0.379008782 8 2 3 1 0.717573219 0.620991218 2.541917837 1.113690857 2.282426781 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.37E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 145707653 C T - - - - - - 53 0 0 50 6 12 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.599041916 0.599041916 1 0.325785274 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000206 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 146066548 A T - - - - - - 40 0 0 45 4 8.9 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.569093886 0.569093886 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 146084314 A T - - - - - - 34 0 0 54 22 40.7 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.602485524 1.083331968 2.402297358 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.60E-36 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 146174703 G A ZNF16 CCDS6437.1 r.? - - intronic 24 0 0 59 12 20.3 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.71757322 2.620991218 8 2 2 0 0.282426781 0.379008782 8 2 3 1 0.717573219 0.620991218 2.580046605 1.13039622 2.282426781 2.470338234 1.235169117 2 NA NA 1 NA NA 0 4 NA 1 1 2.20E-16 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 146192349 A T PLSCR2 CCDS3134.1 r.? - - intronic 42 0 0 52 15 28.8 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.538895579 0.93343985 1.648628541 1.259596491 1.259596491 1 NA NA 0 NA NA 1 4 NA 1 1 1.15E-22 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 146306518 G C MIR513A2 ENST00000385249 r.? - - downstream 38 0 0 41 16 39 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 2.493782197 1.03808223 2.402297358 0.549898825 0.549898825 1 NA NA 0 NA NA 0 4 NA 1 1 1.40E-26 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 146314465 C A PLSCR5 CCDS46931.1 r.? - - intronic 47 0 0 47 12 25.5 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 1.362563794 1.362563794 1 1.212508772 1.212508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.09E-17 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 146403197 C A SMAD1 CCDS3765.1 r.247+7c>a c.? p.? splice region 6 0 0 34 7 20.6 6 1 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.998379097 0.998379097 1 1.511281686 1.511281686 1 NA NA 0 NA NA 0 4 NA 1 1 3.73E-10 1 0.029627491 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 146513150 C T GRM1 CCDS47497.1 r.? - - intronic 47 0 0 28 11 39.3 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.568862275 1.568862275 1 1.99122807 1.99122807 1 NA NA 1 NA NA 1 4 NA 1 1 9.70E-19 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 146544660 G T - - - - - - 45 0 0 29 14 48.3 27 10 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.928143713 0.964071856 2 3.245614035 1.622807018 2 NA NA 1 NA NA 1 4 NA 1 1 4.41E-25 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 146614539 G T - - - - - - 45 0 0 48 22 45.8 50 12 24 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.286343313 1.143171657 2 2.825263158 0.941754386 3 NA NA 0 NA NA 1 4 NA 1 1 5.76E-38 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 146649688 C T - - - - - - 37 0 0 52 5 9.6 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.613854079 0.613854079 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 146819247 C T ZNF827 CCDS34072.1 r.? - - intronic 32 0 0 36 21 58.3 30 5 16.7 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.825509774 1.412754887 2 1.511281686 1.511281686 1 NA NA 0 NA NA 0 4 NA 1 1 2.47E-39 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 146960086 C G - - - - - - 48 0 0 54 35 64.8 34 12 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.143515035 1.035878759 4 3.662533686 1.016376759 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 4.87E-67 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 146971376 A T CNTNAP2 CCDS5889.1 r.? - - intronic 60 0 0 29 15 51.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.063872255 1.031936128 2 1.368421053 1.368421053 1 NA NA 1 NA NA 1 4 NA 1 1 2.22E-27 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 146976986 G T - - - - - - 38 0 0 60 8 13.3 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.796938124 0.796938124 1 0.786350877 0.786350877 1 NA NA 1 NA NA 1 4 NA 1 1 7.93E-10 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 57363904 G T MIMT1 ENST00000506016 r.? - - downstream 51 0 0 61 21 34.4 56 3 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 3.037319943 1.012439981 3 0.797684211 0.797684211 1 NA NA 0 NA NA 1 4 NA 1 1 4.80E-33 1 0.00284314 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147058294 C A - - - - - - 35 0 0 60 14 23.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 1.475861127 1.475861127 1 1.506807018 1.506807018 1 NA NA 0 NA NA 1 4 NA 1 1 8.54E-20 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 147107097 G C C6orf103 CCDS47498.1 r.? - - intronic 29 0 0 36 8 22.2 15 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 147123898 A T C6orf103 CCDS47498.1 r.? - - intronic 47 0 0 35 19 54.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.167664671 1.083832335 2 1.859649123 1.859649123 1 NA NA 1 NA NA 1 4 NA 1 1 7.18E-35 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 147151409 C G ENSG00000250673 ENST00000504313 r.? - - downstream 18 0 0 62 7 11.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.547654553 0.640918065 0.854484501 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 3.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 147250426 G T - - - - - - 40 0 0 44 7 15.9 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.952730539 0.952730539 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147314920 G A - - - - - - 57 0 0 67 16 23.9 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 1.513866135 1.127939444 1.342151959 1.389087719 1.389087719 1 NA NA 0 NA NA 1 4 NA 1 1 1.35E-22 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 57536796 T G - - - - - - 52 0 0 55 5 9.1 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 0.803477078 0.803477078 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 147331183 T C SLC10A7 CCDS34073.1 r.? - - intronic 45 0 0 37 6 16.2 31 0 0 40 0 0 161 22 13.7 172 0 0 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.785133076 0.785133076 1 0 NA 0 0.663970564 0.777042256 0.854484501 0 NA 0 NA NA 1 1 3.18E-08 8.60E-25 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 147340911 C T - - - - - - 51 0 0 53 10 18.9 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 1.197157738 1.197157738 1 0.270754386 0.270754386 1 NA NA 0 NA NA 1 4 NA 1 1 1.57E-13 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147455205 C G - - - - - - 59 0 0 72 10 13.9 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 0.880449342 0.880449342 1 1.424403509 1.424403509 1 NA NA 0 NA NA 1 4 NA 1 1 3.95E-12 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 147492219 A T SPINK5 CCDS47300.1 r.? - - intronic 44 0 0 40 12 30 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.19760479 1.19760479 1 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-18 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 147540641 G A - - - - - - 60 0 0 57 7 12.3 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.737017964 0.737017964 1 0.538596491 0.538596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.66E-08 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147668612 A G - - - - - - 47 0 0 53 16 30.2 41 9 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 1.912918714 0.956459357 2 2.589824561 0.863274854 3 NA NA 0 NA NA 1 4 NA 1 1 1.90E-24 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147679944 C A - - - - - - 51 0 0 65 10 15.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 0.975461861 0.975461861 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.36E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 147712832 A G - - - - - - 49 0 0 50 28 56 38 9 23.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.342151959 5 3 3 1 2 0.657848041 1 4 NA 1 NA 0.342151959 NA 3.547134039 1.061332364 3.342151959 2.789947368 0.929982456 3 NA NA 0 NA NA 0 4 NA 1 1 2.97E-51 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 147818032 C T FBXO38 CCDS4290.1 r.3163c>u c.2995C>T p.R999C missense 50 0 0 35 11 31.4 20 1 5 183 0 0 182 38 20.9 210 2 1 0.621806422 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.253493014 1.253493014 1 0.438596491 0.438596491 1 0.834331337 0.834331337 1 0.087719298 0.087719298 1 4 2 1 1 1.82E-17 4.11E-49 0.09538952 0.282672983 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b X 148029254 C T AFF2 CCDS14684.1 r.? - - intronic 43 0 0 59 39 66.1 32 11 34.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.226641108 0.960098959 4.402297358 3.56915464 0.990463471 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 4.61E-75 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 148045523 G A - - - - - - 61 0 0 37 16 43.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.724550898 0.862275449 2 1.701754386 1.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 1.78E-27 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 148097325 T C - - - - - - 52 0 0 33 12 36.4 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.764126171 0.882063085 2 0.606322593 0.606322593 1 NA NA 0 NA NA 0 4 NA 1 1 7.86E-20 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 148210665 G A - - - - - - 56 0 0 56 5 8.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000965 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 57679552 G A DUXA CCDS33126.1 r.? - - upstream 37 0 0 38 6 15.8 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 1.395048113 1.395048113 1 2.378280702 1.189140351 2 NA NA 0 NA NA 1 4 NA 1 1 3.76E-08 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 148827592 G A MBD5 CCDS33302.1 r.? - - intronic 49 0 0 49 13 26.5 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 0.793942116 2 2.100526316 1.050263158 2 NA NA 1 NA NA 1 4 NA 1 1 2.71E-19 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 58712947 G C ZNF274 ENST00000326804 r.? - - intronic 38 0 0 66 24 36.4 53 6 11.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.83740247 8 5 5 1 3 0.16259753 1 5 NA 2 NA 0.83740247 NA 3.213908311 1.016224253 3.16259753 1.66922807 1.66922807 1 NA NA 0 NA NA 1 4 NA 1 1 3.04E-38 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 148918266 G A CP CCDS3141.1 r.? - - intronic 45 0 0 45 15 33.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.775385857 1.069170183 1.660526907 3.119561404 1.039853801 3 NA NA 0 NA NA 1 4 NA 1 1 9.14E-24 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 148928115 G C - - - - - - 46 0 0 123 9 7.3 39 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.437417166 0.437417166 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 149050613 G A MBD5 CCDS33302.1 r.? - - intronic 32 0 0 48 18 37.5 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.42E-29 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 3262856 A G C20orf194 CCDS42851.1 r.? - - intronic 51 0 0 39 5 12.8 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.638978044 0.638978044 1 0.400833191 0.400833191 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000156 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 149176078 G A - - - - - - 43 1 2.3 43 17 39.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.105938179 1.05296909 2 3.496263158 1.165421053 3 NA NA 0 NA NA 1 4 NA 0.193893409 1 2.84E-28 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 149349329 A G - - - - - - 67 0 0 61 17 27.9 49 5 10.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.671772455 0.835886228 2 1.098736842 1.098736842 1 NA NA 1 NA NA 1 4 NA 1 1 3.33E-25 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 149365911 G A - - - - - - 54 0 0 51 18 35.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.115181637 1.057590818 2 2.854561404 1.427280702 2 NA NA 1 NA NA 1 4 NA 1 1 9.10E-29 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 149448403 C A - - - - - - 32 0 0 83 5 6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.3836588 0.953669698 0.402297358 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000656 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 6711910 C A - - - - - - 48 0 0 39 10 25.6 36 10 27.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.277956088 1.277956088 1 3.095322978 1.310286405 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 5.44E-15 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 149606786 C T - - - - - - 61 0 0 31 10 32.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.935421158 0.967710579 2 2.779157895 1.389578947 2 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 149635494 T C TAB2 CCDS5214.1 r.? - - upstream 46 0 0 25 11 44 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.756487026 0.878243513 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.04E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 149682714 C T - - - - - - 91 0 0 72 15 20.8 47 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.246339321 1.246339321 1 0.226210526 0.226210526 1 NA NA 1 NA NA 1 4 NA 1 1 2.70E-20 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 149736243 A G - - - - - - 62 0 0 55 10 18.2 57 3 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.090546906 1.090546906 1 0.570912281 0.570912281 1 NA NA 1 NA NA 1 4 NA 1 1 2.33E-13 1 0.002989991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 149775023 T C - - - - - - 32 0 0 44 6 13.6 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.725082512 0.725082512 1 1.177192982 1.177192982 1 NA NA 0 NA NA 1 4 NA 1 1 9.37E-08 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 149820571 T G HIST2H3A CCDS30850.1 r.? - - upstream 50 0 0 45 10 22.2 49 5 10.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 1.098736842 1.098736842 1 NA NA 1 NA NA 1 4 NA 1 1 2.66E-14 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 149910079 C A OTUD7B CCDS41389.1 r.? - - downstream 49 0 0 43 8 18.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.11451497 1.11451497 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.85E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 150070839 A T NUP43 CCDS5218.1 r.? - - upstream 19 0 0 24 12 50 2 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 6.25E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 150379404 G C - - - - - - 48 0 0 54 39 72.2 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.616694221 1.048701132 4.402297358 1.857205467 1.857205467 1 NA NA 0 NA NA 0 4 NA 1 1 1.46E-77 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 150392156 G A ULBP3 CCDS5225.1 r.? - - upstream 18 0 0 27 11 40.7 21 4 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.624750499 0.81237525 2 1.666666667 1.666666667 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-19 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 150420868 G C GIMAP1 CCDS5906.1 r.3916g>c c.? p.? 3'UTR variant 43 0 0 32 4 12.5 31 0 0 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 150516917 T C - - - - - - 48 0 0 59 44 74.6 35 10 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.770157741 1.083561003 4.402297358 2.967378567 0.989126189 3 NA NA 1 NA NA 0 4 NA 1 1 2.11E-88 1 1.60E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 7079054 G A - - - - - - 51 0 0 38 12 31.6 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.577477046 1.577477046 1 2.070971489 1.035485745 2 NA NA 0 NA NA 1 4 NA 1 1 5.86E-19 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 10115626 G T - - - - - - 48 0 0 46 6 13 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.648962076 0.648962076 1 1.993031702 1.993031702 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000123 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 150783230 G T AGAP3 CCDS43681.1 r.? - - upstream 17 0 0 14 3 21.4 7 1 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.854291417 0.854291417 1 1.254385965 1.254385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000437 1 0.034479353 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 23113874 C G - - - - - - 42 0 0 45 7 15.6 26 2 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.778754491 0.778754491 1 0.857337659 0.857337659 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000003 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 150929441 T C - - - - - - 36 0 0 62 35 56.5 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 3.612787029 1.061866924 3.402297358 0.840411412 0.840411412 1 NA NA 0 NA NA 0 4 NA 1 1 7.14E-64 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 151029150 G T MLLT11 CCDS982.1 r.? - - upstream 47 0 0 39 14 35.9 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 1.281859649 1.281859649 1 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 24214651 G A - - - - - - 36 0 0 24 10 41.7 24 2 8.3 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 2.081670659 1.040835329 2 0.924143191 0.924143191 1 0 NA 0 NA NA 0 4 NA 1 1 1.80E-17 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 151265911 C T MTHFD1L CCDS5228.1 r.? - - intronic 46 0 0 27 6 22.2 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.886227545 0.886227545 1 0.315789474 0.315789474 1 NA NA 1 NA NA 1 4 NA 1 1 4.23E-09 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 151286126 A G PI4KB CCDS993.1 r.? - - intronic 51 0 0 44 6 13.6 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 24504945 C T TMEM90B CCDS13164.1 r.? - - intronic 32 0 0 42 14 33.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.662341317 0.831170659 2 2.950577659 1.249014019 2.362325493 NA NA 0 NA NA 1 4 NA 1 1 2.83E-22 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 30307211 G C BCL2L1 CCDS13189.1 r.? - - intronic 39 0 0 41 9 22 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.098243513 1.098243513 1 0.411967447 0.411967447 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-13 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 151567909 C A GABRA3 CCDS14706.1 r.? - - intronic 48 0 0 55 5 9.1 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.581882513 0.581882513 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 151636086 C T AKAP12 CCDS5229.1 r.? - - intronic 33 0 0 36 20 55.6 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.219560878 1.109780439 2 1.754385965 1.754385965 1 NA NA 1 NA NA 1 4 NA 1 1 6.46E-37 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 151653832 A T - - - - - - 34 0 0 37 15 40.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.426766467 1.213383234 2 1.583473684 1.583473684 1 NA NA 1 NA NA 1 4 NA 1 1 2.58E-25 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 151703841 C T ZBTB2 CCDS5231.1 r.? - - intronic 23 0 0 30 16 53.3 14 8 57.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.127744511 1.063872255 2 5.00877193 2.504385965 2 NA NA 1 NA NA 1 4 NA 1 1 2.08E-29 1 1.14E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 151761583 G A - - - - - - 39 0 0 43 8 18.6 31 1 3.2 159 0 0 144 26 18.1 143 1 0.7 0.762407445 TRUE TRUE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.991656965 0.991656965 1 0.376701754 0.376701754 1 0.96499952 0.96499952 1 0.082403509 0.082403509 1 4 2 1 1 4.85E-11 2.48E-32 0.143917729 0.511684459 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 4 151851416 G T LRBA CCDS3773.1 r.? - - intronic 44 0 0 45 8 17.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.862677084 0.862677084 1 1.710372686 1.710372686 1 NA NA 0 NA NA 0 4 NA 1 1 7.14E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 151910328 C T CSAG1 CCDS14711.1 r.? - - downstream 45 0 0 37 7 18.9 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.208525219 1.208525219 1 0.715906018 0.715906018 1 NA NA 0 NA NA 0 4 NA 1 1 7.05E-10 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 36197038 C A - - - - - - 56 0 0 33 5 15.2 46 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.758786427 0.758786427 1 0.478772979 0.478772979 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000066 1 0.022369545 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 152171051 C G - - - - - - 49 0 0 49 6 12.2 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 37183648 G A RALGAPB CCDS13305.1 r.? - - intronic 47 0 0 52 9 17.3 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4.362325493 2 2 2 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.036618762 1.036618762 1 0.979814468 0.979814468 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-12 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 152426852 G C - - - - - - 39 0 0 53 11 20.8 24 6 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.108949725 1.108949725 1 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 3.07E-15 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 152497731 C A FAM160A1 CCDS47146.1 r.? - - intronic 45 0 0 49 11 22.4 33 0 0 94 0 0 263 31 11.8 255 3 1.2 0.469648461 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.085616105 1.085616105 1 0 NA 0 0.571887055 0.571887055 1 0.108595091 NA 0 NA NA 1 1 1.19E-15 3.04E-32 1 0.136755718 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 4 152509844 A C FAM160A1 CCDS47146.1 r.? - - intronic 60 0 0 56 30 53.6 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.597724251 1.298862126 2 1.266942731 1.266942731 1 NA NA 0 NA NA 0 4 NA 1 1 5.46E-54 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 152686035 T C LCE4A CCDS1022.1 r.? - - downstream 49 0 0 49 19 38.8 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.324902196 1.162451098 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-31 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 152726605 G A - - - - - - 41 0 0 27 18 66.7 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.662674651 1.331337325 2 2.456140351 1.228070175 2 NA NA 1 NA NA 1 4 NA 1 1 1.71E-35 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 152728211 C T - - - - - - 27 0 0 21 4 19 20 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.758483034 0.758483034 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000349 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 152800908 G A - - - - - - 52 0 0 33 8 24.2 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.966067864 0.966067864 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.85E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 43040773 G T HNF4A CCDS13330.1 r.? - - intronic 40 0 0 58 15 25.9 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 1.551932136 0.775966068 2 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 7.42E-22 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 153069672 C T GRIA1 CCDS4322.1 r.? - - intronic 35 0 0 29 12 41.4 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.652694611 0.826347305 2 1.315789474 1.315789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.17E-20 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 153123732 G A L1CAM CCDS14733.1 r.? - - downstream 21 0 0 41 6 14.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.933569746 0.933569746 1 0.383891633 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.05E-08 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 47136132 G T - - - - - - 54 0 0 65 25 38.5 32 11 34.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.076926148 1.025642049 3 4.04954386 1.349847953 3 NA NA 1 NA NA 0 4 NA 1 1 1.60E-40 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 48922691 C A - - - - - - 21 0 0 47 9 19.1 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 1.52647505 1.52647505 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.24E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 153186313 A G - - - - - - 64 0 0 39 5 12.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.62035206 0.62035206 1 2.190001006 1.714070336 1.277661109 NA NA 0 NA NA 0 4 NA 1 1 0.00000156 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 153220867 A G FMNL2 CCDS46429.1 r.? - - intronic 60 1 1.7 46 19 41.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.474702595 1.237351297 2 1.24954386 1.24954386 1 NA NA 1 NA NA 1 4 NA 0.259739042 1 6.97E-32 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 153235846 G C - - - - - - 41 0 0 32 6 18.8 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750499002 0.750499002 1 0.263157895 0.263157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.27E-08 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 153285602 T A FMNL2 CCDS46429.1 r.? - - intronic 43 0 0 42 7 16.7 24 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 153401218 G T RGS17 CCDS5244.1 r.? - - intronic 42 0 0 28 16 57.1 17 5 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.279441118 1.139720559 2 2.578947368 1.289473684 2 NA NA 1 NA NA 1 4 NA 1 1 4.39E-30 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 54014906 G A - - - - - - 57 0 0 61 27 44.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 3.540463074 1.180154358 3 2.177807018 2.177807018 1 NA NA 1 NA NA 0 4 NA 1 1 9.98E-46 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 63220969 G A - - - - - - 47 0 0 28 13 46.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.852295409 0.926147705 2 1.166666667 1.166666667 1 NA NA 1 NA NA 1 4 NA 1 1 4.26E-23 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 57278122 C T NPEPL1 CCDS46621.1 r.? - - intronic 41 0 0 52 16 30.8 21 4 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.461540918 0.820513639 3 2.236666667 2.236666667 1 NA NA 1 NA NA 0 4 NA 1 1 1.33E-24 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 59732466 C A - - - - - - 28 0 0 37 14 37.8 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.617024881 5 4 3 3 2 0.382975119 1 5 NA 3 NA 0.617024881 NA 3.632217441 1.004200292 3.617024881 1.565666667 1.565666667 1 NA NA 1 NA NA 0 4 NA 1 1 3.35E-23 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 153599537 A C GALNT10 CCDS4325.1 r.? - - intronic 48 0 0 46 8 17.4 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.694610778 0.694610778 1 0.833333333 0.833333333 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-11 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 63403285 C G - - - - - - 59 0 0 31 10 32.3 24 1 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.289421158 1.289421158 1 0.368421053 0.368421053 1 NA NA 1 NA NA 1 4 NA 1 1 3.94E-16 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 153639353 T G - - - - - - 19 0 0 27 7 25.9 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.255243622 1.255243622 1 2.126653869 2.126653869 1 NA NA 0 NA NA 0 4 NA 1 1 6.36E-11 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 153697275 C A - - - - - - 57 0 0 32 4 12.5 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499001996 0.499001996 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 153719294 C G - - - - - - 45 0 0 40 19 47.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.846207585 1.423103792 2 1.497298246 1.497298246 1 NA NA 1 NA NA 1 4 NA 1 1 2.27E-33 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 153825809 G A - - - - - - 9 0 0 57 13 22.8 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.215579506 1.215579506 1 0.423789474 0.423789474 1 NA NA 0 NA NA 1 4 NA 1 1 2.44E-18 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 153954104 C A ENSG00000114790 CCDS46938.1 r.? - - intronic 47 0 0 44 4 9.1 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.485165505 0.485165505 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 153983666 G A - - - - - - 49 0 0 50 15 30 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.599446718 0.963216381 1.660526907 2.578052632 0.859350877 3 NA NA 0 NA NA 1 4 NA 1 1 5.83E-23 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 154038400 C T MPP1 CCDS14762.1 r.? - - upstream 23 0 0 41 30 73.2 29 9 31 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.680637355 1.063226078 4.402297358 3.216389356 1.072129785 3 NA NA 1 NA NA 0 4 NA 1 1 2.79E-60 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 154072958 A T GPR149 CCDS43162.1 r.? - - intronic 36 0 0 43 6 14 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.746408469 0.746408469 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 154078717 T G - - - - - - 40 0 0 37 5 13.5 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.538922156 0.538922156 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 61426678 G T C20orf20 CCDS13503.1 r.? - - upstream 24 0 0 53 12 22.6 21 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.617024881 5 4 3 3 2 0.382975119 1 5 NA 3 NA 0.617024881 NA 2.171643232 1.085821616 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 5.39E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 154241510 G A CNOT8 CCDS4329.1 r.? - - intronic 22 0 0 38 7 18.4 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.734530938 0.734530938 1 0.421052632 0.421052632 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 154366484 G T - - - - - - 42 0 0 34 5 14.7 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.783728892 0.783728892 1 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000771 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 154485301 G A - - - - - - 44 0 0 43 10 23.3 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.396139721 1.396139721 1 0.743263158 0.743263158 1 NA NA 1 NA NA 1 4 NA 1 1 1.61E-14 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 154736724 G T TMLHE CCDS14768.1 r.976c>a c.830C>A p.A277E missense 42 0 0 68 47 69.1 29 14 48.3 96 0 0 381 235 61.7 299 87 29.1 1.24E-98 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.20E-91 0 4.41E-25 2.31E-124 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 21 14375318 T C - - - - - - 67 0 0 98 9 9.2 84 8 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 0.66271371 0.66271371 1 1.213333333 1.213333333 1 NA NA 0 NA NA 1 4 NA 1 1 2.06E-09 1 1.21E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 154811465 T G KCNN3 CCDS30880.1 r.? - - intronic 30 0 0 43 12 27.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.671772455 0.835886228 2 2.359052632 1.179526316 2 NA NA 1 NA NA 1 4 NA 1 1 3.24E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 14898575 G T - - - - - - 45 0 0 74 33 44.6 33 11 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 5 4 3 1 2 0.78860608 1 4 NA 2 NA 0.21139392 NA 3.21272081 1.070906937 3 3.920052632 1.306684211 3 NA NA 0 NA NA 0 4 NA 1 1 1.09E-55 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 154868963 G A GALNT13 CCDS2199.1 r.? - - intronic 52 0 0 48 15 31.2 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 0.721719298 0.721719298 1 NA NA 1 NA NA 1 4 NA 1 1 2.86E-23 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 155049507 A C EFNA3 CCDS1090.1 r.? - - upstream 35 0 0 49 26 53.1 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 3.181760479 1.59088024 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 7.78E-47 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 155058098 G T - - - - - - 45 0 0 17 8 47.1 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880239521 0.94011976 2 1.701754386 1.701754386 1 NA NA 1 NA NA 1 4 NA 1 1 9.12E-15 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 75500749 T G - - - - - - 48 0 0 50 20 40 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.596806387 0.798403194 2 2.631578947 1.315789474 2 NA NA 1 NA NA 1 4 NA 1 1 3.90E-33 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 155126880 T A GALNT13 CCDS2199.1 r.? - - intronic 38 0 0 46 4 8.7 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.521305389 0.521305389 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 155135709 T C - - - - - - 47 0 0 17 6 35.3 17 6 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.710814666 1.710814666 1 3.194505599 2.500276151 1.277661109 NA NA 0 NA NA 0 4 NA 1 1 1.84E-10 1 1.84E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 155186472 A G GALNT13 CCDS2199.1 r.? - - intronic 52 0 0 47 8 17 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 20552480 T C - - - - - - 32 0 0 78 9 11.5 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 5 5 3 2 2 1 1 NA NA NA NA NA NA 1.034081836 1.034081836 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 155404846 G T ENSG00000216895 ENST00000401694 r.? - - intronic 39 0 0 36 19 52.8 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.107784431 1.053892216 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.51E-34 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 155465797 A T ASH1L CCDS1113.2 r.? - - intronic 44 0 0 44 12 27.3 40 2 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 0.81791018 2 0.538596491 0.538596491 1 NA NA 1 NA NA 1 4 NA 1 1 4.44E-18 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 155473003 A T - - - - - - 50 0 0 29 14 48.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.928143713 0.964071856 2 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 4.41E-25 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 155535156 G T ASH1L CCDS1113.2 r.? - - upstream 44 0 0 51 14 27.5 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.647804391 0.823902196 2 1.874315789 1.874315789 1 NA NA 1 NA NA 1 4 NA 1 1 6.64E-21 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 155555230 G A SLC33A1 CCDS3173.1 r.? - - intronic 36 0 0 45 8 17.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.949005053 0.949005053 1 0.671 0.671 1 NA NA 0 NA NA 1 4 NA 1 1 7.14E-11 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 155643107 A G - - - - - - 49 0 0 30 15 50 31 13 41.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.996007984 0.998003992 2 3.675438596 1.837719298 2 NA NA 1 NA NA 1 4 NA 1 1 4.41E-27 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 155654545 T C YY1AP1 CCDS1116.1 r.? - - intronic 48 0 0 39 12 30.8 26 1 3.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 0.409333333 0.409333333 1 NA NA 1 NA NA 1 4 NA 1 1 8.43E-19 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 155656048 G A YY1AP1 CCDS1116.1 r.? - - intronic 7 0 0 33 13 39.4 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.360854291 1.180427146 2 1.292631579 1.292631579 1 NA NA 1 NA NA 1 4 NA 1 1 6.37E-22 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 155777477 A G KCNAB1 ENST00000472028 r.? - - intronic 41 0 0 46 12 26.1 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.391518645 1.391518645 1 2.224894737 1.112447368 2 NA NA 0 NA NA 1 4 NA 1 1 8.12E-18 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 155844580 G A KCNAB1 CCDS3174.1 r.? - - intronic 50 0 0 38 10 26.3 36 7 19.4 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.402181623 1.402181623 1 2.283754386 1.141877193 2 NA NA 0 0 0 1 4 NA 1 1 4.06E-15 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 49245582 G A RASIP1 CCDS12731.1 r.? - - upstream 28 0 0 41 9 22 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 1.758243513 1.758243513 1 0.487473684 0.487473684 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-13 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 155952287 T G - - - - - - 45 0 0 61 6 9.8 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.587217565 0.587217565 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000685 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 155957458 A G - - - - - - 32 0 0 30 14 46.7 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.864271457 0.932135729 2 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 8.24E-25 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 156162491 G C SLC25A44 CCDS1133.1 r.? - - upstream 29 0 0 56 15 26.8 48 6 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.605860279 0.80293014 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.09E-22 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 21377106 G T - - - - - - 49 0 0 63 10 15.9 44 3 6.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.041613569 1.041613569 1 0.800491228 0.800491228 1 NA NA 0 NA NA 1 4 NA 1 1 9.81E-13 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 156253911 G A - - - - - - 40 0 0 38 8 21.1 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.022611599 1.022611599 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.67E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 21410238 G T - - - - - - 41 0 0 57 5 8.8 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.576490529 0.576490529 1 1.035929825 1.035929825 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000105 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 156267581 G T SSR3 CCDS3176.1 r.? - - intronic 57 0 0 37 10 27 36 20 55.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.439502046 1.439502046 1 6.545192982 2.181730994 3 NA NA 0 NA NA 1 4 NA 1 1 3.01E-15 1 6.46E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 156284285 G C - - - - - - 44 0 0 26 18 69.2 33 11 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.76247505 1.381237525 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 5.74E-36 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 156389697 A T TIMD4 CCDS4332.1 r.? - - intronic 49 0 0 51 6 11.8 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.707057884 0.707057884 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000232 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 51681519 G A - - - - - - 42 0 0 43 18 41.9 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 8 4 5 2 3 1 1 NA NA NA NA NA NA 3.348654691 1.11621823 3 1.285157895 1.285157895 1 NA NA 0 NA NA 1 4 NA 1 1 2.06E-30 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 156473327 G A MEF2D CCDS1143.1 r.? - - upstream 35 0 0 40 12 30 48 9 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.79760479 0.898802395 2 2.025122807 1.012561404 2 NA NA 1 NA NA 1 4 NA 1 1 1.20E-18 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 156589341 G T - - - - - - 40 0 0 39 5 12.8 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.510978044 0.510978044 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 156601060 C G GUCY1A3 CCDS34085.1 r.? - - intronic 45 0 0 40 13 32.5 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.575112652 0.787556326 2 1.248843549 1.248843549 1 NA NA 0 NA NA 0 4 NA 1 1 1.30E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 156630070 T G LMBR1 CCDS5945.1 r.? - - intronic 40 0 0 33 17 51.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.055888224 1.027944112 2 1.649122807 1.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 8.25E-31 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 156844135 A T - - - - - - 30 0 0 32 5 15.6 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 156864948 C T - - - - - - 38 0 0 26 5 19.2 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.766467066 0.766467066 1 1.140350877 1.140350877 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000188 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 156894937 T C - - - - - - 56 0 0 50 8 16 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.775440075 0.775440075 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 156938362 G A UBE3C CCDS34789.1 r.? - - intronic 59 0 0 30 6 20 19 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.798403194 0.798403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.37E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 157036927 C T - - - - - - 37 0 0 41 15 36.6 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.193077844 1.096538922 2 2.876105263 1.438052632 2 NA NA 1 NA NA 1 4 NA 1 1 1.71E-24 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 157084348 G A - - - - - - 23 0 0 41 12 29.3 23 2 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.755660679 0.877830339 2 0.937157895 0.937157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.69E-18 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 157159489 A G - - - - - - 17 0 0 38 18 47.4 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.840215569 1.420107784 2 2.337508772 1.168754386 2 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 23341199 C A - - - - - - 55 0 0 56 17 30.4 46 17 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.991512735 0.995756367 2 4.355614035 1.451871345 3 NA NA 0 NA NA 1 4 NA 1 1 6.22E-26 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 157282287 A T - - - - - - 43 0 0 37 14 37.8 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.264982036 1.132491018 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 3.35E-23 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 157494827 C A - - - - - - 43 0 0 35 4 11.4 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.68308982 0.68308982 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 157677202 T G - - - - - - 58 0 0 48 7 14.6 44 0 0 95 0 0 267 30 11.2 358 1 0.3 0.972622129 TRUE TRUE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.778397403 0.778397403 1 0 0 1 0.597126775 0.597126775 1 0.035315789 0.035315789 1 3 2 1 1 4.81E-09 1.28E-30 1 0.833787797 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 3 157723884 T C - - - - - - 69 0 0 53 19 35.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.908673084 0.954336542 2 3.496263158 1.165421053 3 NA NA 0 NA NA 1 4 NA 1 1 1.93E-30 1 3.70E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 25894355 G T - - - - - - 60 0 0 45 5 11.1 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.727164189 0.727164189 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 157786364 T G - - - - - - 51 0 0 49 13 26.5 30 6 20 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.412844601 1.412844601 1 2.354385965 1.177192982 2 0 NA 0 NA NA 1 4 NA 1 1 2.71E-19 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 157791959 G C - - - - - - 36 0 0 47 18 38.3 27 5 18.5 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.294942116 1.147471058 2 1.992807018 1.992807018 1 NA NA 1 0 0 1 4 NA 1 1 1.52E-29 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 26598446 C T - - - - - - 54 0 0 56 8 14.3 49 2 4.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.936797109 0.936797109 1 0.482649123 0.482649123 1 NA NA 0 NA NA 1 4 NA 1 1 4.48E-10 1 0.025168485 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 157876670 A T - - - - - - 51 0 0 61 7 11.5 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.689081836 0.689081836 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.69E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 157916720 T G - - - - - - 51 0 0 34 13 38.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.2889501 1.14447505 2 2.391368421 1.195684211 2 NA NA 1 NA NA 1 4 NA 1 1 1.03E-21 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 157942623 C T RSRC1 CCDS3181.1 r.? - - intronic 60 0 0 50 9 18 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.959668031 0.959668031 1 0.517964912 0.517964912 1 NA NA 0 NA NA 1 4 NA 1 1 4.07E-12 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 157999629 G T RSRC1 CCDS3181.1 r.? - - intronic 61 0 0 36 14 38.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.073949245 1.036974622 2 2.460333333 0.820111111 3 NA NA 0 NA NA 1 4 NA 1 1 2.09E-23 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 158048109 G C - - - - - - 43 0 0 43 5 11.6 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.695073852 0.695073852 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 158085712 A T PTPRN2 CCDS5949.1 r.? - - intronic 29 0 0 29 12 41.4 33 7 21.2 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.652694611 0.826347305 2 1.859649123 1.859649123 1 0 0 1 NA NA 1 4 NA 1 1 1.17E-20 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 158104348 G T - - - - - - 30 0 0 45 14 31.1 28 4 14.3 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.863516966 0.931758483 2 1.540385965 1.540385965 1 0 0 1 NA NA 1 4 NA 1 1 8.81E-22 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 158139224 T A - - - - - - 48 0 0 52 12 23.1 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.384155689 1.384155689 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 4 NA 1 1 4.19E-17 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 158244027 C A EBF1 CCDS4343.1 r.? - - intronic 38 0 0 41 8 19.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.168443114 1.168443114 1 1.745052632 1.745052632 1 NA NA 1 NA NA 1 4 NA 1 1 3.22E-11 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 158252804 G T GRIA2 CCDS43275.1 r.? - - intronic 57 0 0 40 22 55 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.665575258 1.332787629 2 2.678678916 2.096548841 1.277661109 NA NA 0 NA NA 0 4 NA 1 1 2.48E-40 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 158260890 G C GRIA2 CCDS43275.1 r.? - - intronic 57 0 0 35 4 11.4 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.552501053 0.552501053 1 0.606322593 0.606322593 1 NA NA 0 NA NA 0 4 NA 1 1 0.0000289 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 28763754 G A - - - - - - 44 0 0 51 14 27.5 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.801532902 0.900766451 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 6.64E-21 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 158301953 C G PTPRN2 CCDS5949.1 r.? - - intronic 14 0 0 24 6 25 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998003992 0.998003992 1 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.95E-09 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 158370954 C A - - - - - - 39 0 0 42 11 26.2 31 1 3.2 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.569908184 1.569908184 1 0.344701754 0.344701754 1 NA NA 1 0 0 1 4 NA 1 1 1.81E-16 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 158457294 T G SYNJ2 CCDS5254.1 r.? - - intronic 46 0 0 21 10 47.6 21 9 42.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.900199601 0.9500998 2 3.763157895 1.881578947 2 NA NA 1 NA NA 1 4 NA 1 1 3.28E-18 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 30019257 A G - - - - - - 46 0 0 71 25 35.2 53 13 24.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.305962114 0.901113955 2.559012765 2.884122807 0.961374269 3 NA NA 0 NA NA 1 4 NA 1 1 2.38E-39 1 8.53E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 158503703 C T - - - - - - 15 0 0 27 4 14.8 16 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.590818363 0.590818363 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 158616237 G C GTF2H5 CCDS5256.1 r.? - - downstream 45 0 0 32 17 53.1 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.119760479 1.05988024 2 1.859649123 1.859649123 1 NA NA 1 NA NA 1 4 NA 1 1 4.02E-31 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 158812509 T C - - - - - - 55 0 0 35 18 51.4 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.051896208 1.025948104 2 0.877192982 0.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-32 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 158854077 C T IQCJ CCDS46947.1 r.? - - intronic 37 0 0 46 9 19.6 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.044971856 1.044971856 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.82E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 158884327 T A - - - - - - 52 0 0 41 13 31.7 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.899469062 0.949734531 2 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 1.89E-20 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 159081549 G A - - - - - - 46 0 0 53 18 34 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.037285429 1.018642715 2 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 2.09E-28 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 159101953 C T AIM2 ENST00000411768 r.? - - intronic 27 0 0 39 7 17.9 20 1 5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.072570858 1.072570858 1 0.538596491 0.538596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-09 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 159129493 C T - - - - - - 55 0 0 50 18 36 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.157125749 1.078562874 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-29 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 159246807 T C - - - - - - 34 0 0 46 17 37 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.477045908 0.738522954 2 1.096491228 1.096491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-27 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 159310570 G A - - - - - - 40 0 0 50 15 30 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.79760479 0.898802395 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 5.83E-23 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 159325345 A C SCHIP1 CCDS3186.1 r.? - - intronic 42 0 0 42 13 31 37 10 27 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.652761609 0.995323594 1.660526907 3.178421053 1.059473684 3 NA NA 0 NA NA 1 4 NA 1 1 2.72E-20 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 159586052 G A SCHIP1 CCDS3186.1 r.? - - intronic 44 0 0 41 9 22 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.172927593 1.172927593 1 0.353157895 0.353157895 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-13 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 159602362 G A ETFDH ENST00000511912 r.? - - intronic 47 0 0 34 8 23.5 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.13892761 1.13892761 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.32E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 159653338 A G - - - - - - 37 0 0 38 10 26.3 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.402181623 1.402181623 1 1.236052632 1.236052632 1 NA NA 0 NA NA 1 4 NA 1 1 4.06E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 159801238 C T - - - - - - 54 0 0 37 12 32.4 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.941413174 0.970706587 2 1.992807018 1.992807018 1 NA NA 1 NA NA 1 4 NA 1 1 4.03E-19 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 160086012 C T TANC1 CCDS42766.1 r.? - - intronic 47 0 0 59 10 16.9 48 4 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.012650699 1.012650699 1 0.894070175 0.894070175 1 NA NA 1 NA NA 1 4 NA 1 1 4.91E-13 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 160168773 G A TRIM59 CCDS3190.1 r.? - - upstream 25 0 0 43 18 41.9 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.233893917 1.116946958 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 2.06E-30 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 160418307 A T - - - - - - 59 0 0 58 26 44.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.388507099 1.19425355 2 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 2.83E-44 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 160552658 C T - - - - - - 58 0 0 47 18 38.3 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.294942116 1.147471058 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.52E-29 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 160630185 T C - - - - - - 61 0 0 55 6 10.9 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 160677388 C T PPM1L CCDS33886.1 r.? - - intronic 40 0 0 39 21 53.8 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.868341115 1.434170557 2 0.69454386 0.69454386 1 NA NA 0 NA NA 1 4 NA 1 1 2.73E-38 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 160770031 A G GABRB2 CCDS4355.1 r.? - - intronic 59 0 0 43 21 48.8 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.924103792 1.462051896 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.52E-37 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 160832527 C A PLA2R1 CCDS33309.1 r.? - - intronic 53 0 0 47 14 29.8 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-21 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 160851807 T A SLC22A3 CCDS5277.1 r.? - - intronic 50 0 0 35 12 34.3 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.369261477 1.369261477 1 0.649122807 0.649122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.83E-19 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 161142970 A G - - - - - - 63 0 0 57 16 28.1 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.683756487 0.841878244 2 2.43445614 1.21722807 2 NA NA 1 NA NA 1 4 NA 1 1 7.28E-24 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 161161337 C T - - - - - - 52 1 1.9 44 11 25 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.211625117 1.211625117 1 1.809918187 1.809918187 1 NA NA 0 NA NA 0 4 NA 0.229451111 1 3.22E-16 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 161361109 C A - - - - - - 48 0 0 43 15 34.9 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.091213573 1.045606786 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 4.05E-24 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 161410176 A C MAP3K4 CCDS34565.1 r.? - - upstream 44 0 0 44 17 38.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.540918164 0.770459082 2 2.342105263 1.171052632 2 NA NA 1 NA NA 1 4 NA 1 1 4.61E-28 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 161430240 C T - - - - - - 10 0 0 20 4 20 16 1 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.208457784 4 2 2 2 2 0.791542216 1 3 NA 2 NA 0.208457784 NA 1.24009475 1.24009475 1 0.667859649 0.667859649 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000284 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 161477830 C T - - - - - - 40 0 0 39 18 46.2 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.463147946 1.231573973 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 2.15E-31 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 161571365 G C - - - - - - 61 0 0 46 16 34.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.855358193 0.927679097 2 2.425017544 0.808339181 3 NA NA 0 NA NA 1 4 NA 1 1 1.31E-25 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 161747478 T A ATF6 CCDS1235.1 r.? - - intronic 61 0 0 60 22 36.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.208457784 4 2 2 2 2 0.791542216 1 3 NA 2 NA 0.208457784 NA 2.275573867 1.030390476 2.208457784 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 2.81E-35 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 161748106 T C - - - - - - 44 1 2.3 47 14 29.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.785620758 0.892810379 2 2.606807018 1.303403509 2 NA NA 1 NA NA 1 4 NA 0.197923942 1 1.79E-21 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 161823385 A G - - - - - - 47 0 0 46 18 39.1 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.342878244 1.171439122 2 2.100526316 1.050263158 2 NA NA 1 NA NA 1 4 NA 1 1 9.41E-30 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 161921417 T A PARK2 CCDS5281.1 r.? - - intronic 39 0 0 25 12 48 36 13 36.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.916167665 0.958083832 2 3.166666667 1.583333333 2 NA NA 1 NA NA 1 4 NA 1 1 1.20E-21 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 161986980 C G OLFML2B CCDS1236.1 r.? - - intronic 60 0 0 48 26 54.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.208457784 4 2 2 2 2 0.791542216 1 3 NA 2 NA 0.208457784 NA 3.360656774 1.521721084 2.208457784 1.303403509 1.303403509 1 NA NA 1 NA NA 1 4 NA 1 1 3.67E-47 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 31391801 G A - - - - - - 58 0 0 39 8 20.5 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 1.34296089 1.34296089 1 1.836421053 1.836421053 1 NA NA 0 NA NA 1 4 NA 1 1 2.09E-11 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 162024511 C G PARK2 CCDS5281.1 r.? - - intronic 59 0 0 47 24 51.1 25 9 36 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.03992016 1.01996008 2 3.157894737 1.578947368 2 NA NA 1 NA NA 1 4 NA 1 1 8.60E-43 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 162031650 C G - - - - - - 37 0 0 38 12 31.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.684750543 1.014587922 1.660526907 1.836421053 1.836421053 1 NA NA 0 NA NA 1 4 NA 1 1 5.86E-19 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 162043469 A T - - - - - - 40 0 0 37 16 43.2 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.588550898 1.294275449 2 1.378807018 1.378807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.78E-27 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 162059535 C T TANK CCDS2215.1 r.? - - intronic 78 0 0 37 12 32.4 41 9 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.941413174 0.970706587 2 2.369824561 1.184912281 2 NA NA 1 NA NA 1 4 NA 1 1 4.03E-19 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 162069056 C A NOS1AP CCDS1237.1 r.? - - intronic 17 0 0 61 5 8.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 0.655345309 0.655345309 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000147 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 162083271 C G PARK2 CCDS5281.1 r.? - - intronic 26 0 0 24 9 37.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 1.877192982 1.877192982 1 NA NA 1 NA NA 1 4 NA 1 1 2.39E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 33151274 A T - - - - - - 36 0 0 49 5 10.2 32 0 0 286 0 0 198 30 15.2 258 0 0 1 TRUE TRUE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.668204931 0.668204931 1 0 0 1 0.995756367 0.995756367 1 0 0 1 3 2 1 1 0.00000496 1.22E-34 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 5 162090741 G A - - - - - - 60 0 0 59 21 35.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.06E-33 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 162144703 T C NOS1AP CCDS1237.1 r.? - - intronic 50 0 0 79 13 16.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 1.318682635 1.318682635 1 1.583473684 1.583473684 1 NA NA 1 NA NA 0 4 NA 1 1 2.37E-16 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 162213814 A G PSMD14 CCDS46437.1 r.? - - intronic 55 0 0 42 8 19 36 1 2.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 0.301614035 0.301614035 1 NA NA 1 NA NA 1 4 NA 1 1 3.96E-11 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 162255884 A G - - - - - - 55 0 0 41 5 12.2 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.591273057 0.591273057 1 0.904959093 0.904959093 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000202 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 162260494 G A PSMD14 CCDS46437.1 r.? - - intronic 52 0 0 44 14 31.8 47 12 25.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.905461078 0.952730539 2 2.746842105 1.373421053 2 NA NA 1 NA NA 1 4 NA 1 1 6.10E-22 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 162270169 A T - - - - - - 44 0 0 46 15 32.6 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 2.854561404 1.427280702 2 NA NA 1 NA NA 1 4 NA 1 1 1.35E-23 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 162289978 C T - - - - - - 48 0 0 47 12 25.5 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.359529711 1.359529711 1 0.400245614 0.400245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.09E-17 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 162352004 T A FSTL5 CCDS3802.1 r.? - - intronic 41 0 0 41 6 14.6 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.707589069 0.707589069 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 162393361 G T - - - - - - 42 0 0 74 13 17.6 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 1.40659481 1.40659481 1 0.980245614 0.980245614 1 NA NA 1 NA NA 0 4 NA 1 1 9.62E-17 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 162566806 A C SLC4A10 CCDS46438.1 r.? - - intronic 62 0 0 52 5 9.6 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 162592213 G A - - - - - - 43 0 0 48 12 25 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-17 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 162612924 G C - - - - - - 50 0 0 60 28 46.7 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.798271457 1.399135729 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.31E-48 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 35758291 T C FAM165B CCDS33550.1 r.? - - intronic 45 0 0 53 5 9.4 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.615796701 0.615796701 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 162646976 T C SLC4A10 CCDS46438.1 r.? - - intronic 56 0 0 49 14 28.6 39 3 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 0.829438596 0.829438596 1 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 40579216 C T BRWD1 CCDS13663.1 r.? - - intronic 29 0 0 25 15 60 18 6 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 3.186847045 1.062282348 3 3.920052632 0.980013158 4 NA NA 0 NA NA 1 4 NA 1 1 9.52E-29 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 162688383 T A - - - - - - 47 0 0 44 15 34.1 38 5 13.2 93 1 1.1 273 135 49.5 253 36 14.2 7.68E-30 TRUE TRUE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.81803777 0.909018885 2 1.553894737 1.553894737 1 2.639087085 1.319543543 2 1.671614035 0.835807018 2 4 3 1 0.372597118 6.12E-24 8.32E-231 0.00000137 3.23E-40 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 20 1013412 A T - - - - - - 36 0 0 38 4 10.5 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.524161677 0.524161677 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 162835021 C T PARK2 CCDS5281.1 r.? - - intronic 34 0 0 40 15 37.5 27 8 29.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497005988 1.497005988 1 2.596491228 1.298245614 2 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 162982653 C T PARK2 CCDS5281.1 r.? - - intronic 45 0 0 33 8 24.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.966067864 0.966067864 1 1.289473684 1.289473684 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-12 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 163052940 T C PARK2 CCDS5281.1 r.? - - intronic 49 0 0 38 5 13.2 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.526946108 0.526946108 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 163085910 T C - - - - - - 63 0 0 55 25 45.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.425827523 1.212913761 2 2.283754386 1.141877193 2 NA NA 0 NA NA 1 4 NA 1 1 7.96E-43 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 163144258 C T - - - - - - 16 0 0 50 12 24 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.163160113 1.163160113 1 0.38913241 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.49E-17 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 163169019 G A PACRG CCDS43524.1 r.? - - intronic 53 0 0 29 8 27.6 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.101796407 1.101796407 1 0.850877193 0.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.53E-12 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 163332210 T A - - - - - - 65 0 0 48 5 10.4 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.554474862 0.554474862 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 163366650 T A KCNH7 CCDS2219.1 r.? - - intronic 67 0 0 65 10 15.4 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.922770459 0.922770459 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.36E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 163385772 G A - - - - - - 41 0 0 33 6 18.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.882063085 0.882063085 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 163403155 G A KCNH7 CCDS2219.1 r.? - - intronic 42 0 0 44 11 25 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 0.387789474 0.387789474 1 NA NA 1 NA NA 1 4 NA 1 1 3.22E-16 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 163467816 G T - - - - - - 44 0 0 62 9 14.5 26 3 11.5 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.773065914 0.773065914 1 1.35377193 1.35377193 1 0 NA 0 NA NA 1 4 NA 1 1 3.12E-11 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 163496809 G A - - - - - - 44 0 0 54 7 13 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 0.323157895 0.323157895 1 NA NA 1 NA NA 1 4 NA 1 1 1.13E-08 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 163536814 T G - - - - - - 55 0 0 60 5 8.3 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.497337325 0.497337325 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000136 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 163547071 C A PACRG CCDS43524.1 r.? - - intronic 53 0 0 38 4 10.5 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.419161677 0.419161677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 163651822 C G - - - - - - 53 0 0 44 6 13.6 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 163658326 T G - - - - - - 43 0 0 46 4 8.7 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.463839548 0.463839548 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 163686786 G A - - - - - - 34 0 0 33 6 18.2 35 4 11.4 0 0 NA 5 3 60 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.970331009 0.970331009 1 1.342 1.342 1 3.198893437 1.599446718 2 NA NA 1 4 NA 1 1 1.54E-08 0.00000124 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 163767769 G T - - - - - - 56 0 0 47 8 17 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 43659129 T C ABCG1 CCDS42937.1 r.? - - intronic 67 0 0 24 14 58.3 48 11 22.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 3.096553045 1.032184348 3 2.69577193 0.898590643 3 NA NA 0 NA NA 1 4 NA 1 1 1.14E-26 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 163790079 A C - - - - - - 52 0 0 49 12 24.5 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.468043912 1.468043912 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.90E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 163894077 C G AC008446.1 ENST00000486913 r.? - - intronic 39 0 0 52 7 13.5 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.808922156 0.808922156 1 0.463192982 0.463192982 1 NA NA 1 NA NA 1 4 NA 1 1 8.58E-09 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 163911987 C T - - - - - - 50 0 0 40 12 30 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.453950141 1.453950141 1 1.131198867 1.131198867 1 NA NA 0 NA NA 0 4 NA 1 1 1.20E-18 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 163913290 T A - - - - - - 56 0 0 39 16 41 41 8 19.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.185910515 1.092955258 2 2.295526316 1.147763158 2 NA NA 0 NA NA 1 4 NA 1 1 5.16E-27 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 164038488 T G - - - - - - 52 0 0 41 20 48.8 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.924103792 1.462051896 2 2.940736842 1.470368421 2 NA NA 1 NA NA 1 4 NA 1 1 2.32E-35 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 13916116 G A SEL1L2 CCDS42852.1 r.? - - intronic 51 0 0 43 10 23.3 35 0 0 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 1.163139721 1.163139721 1 0 0 1 0 NA 0 NA NA 0 3 NA 1 1 1.61E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 46261897 C A - - - - - - 24 0 0 31 15 48.4 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 2.570723283 0.95900889 2.680604226 3.460947368 0.865236842 4 NA NA 0 NA NA 1 4 NA 1 1 8.51E-27 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 164308639 G T - - - - - - 27 0 0 40 15 37.5 19 2 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.817437676 0.908718838 2 0.950207048 0.950207048 1 NA NA 0 NA NA 0 4 NA 1 1 1.09E-24 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 164366558 G A - - - - - - 45 0 0 44 7 15.9 23 1 4.3 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0.847706761 0.847706761 1 0.506192982 0.506192982 1 NA NA 0 NA NA 1 4 NA 1 1 2.55E-09 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 164490028 G T - - - - - - 50 0 0 58 24 41.4 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 2.207236471 1.103618236 2 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 6.49E-40 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 164499377 C G Mar-01 CCDS3806.1 r.? - - intronic 47 0 0 31 5 16.1 25 0 0 64 0 0 422 19 4.5 315 0 0 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.780286576 0.780286576 1 0 NA 0 0.218092521 0.218092521 1 0 NA 0 NA NA 1 1 0.000000476 1.17E-12 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 5 164530130 C G - - - - - - 54 0 0 51 11 21.6 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.294275449 1.294275449 1 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.94E-15 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 164543960 C T - - - - - - 45 0 0 46 12 26.1 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.391518645 1.391518645 1 1.518578947 1.518578947 1 NA NA 0 NA NA 1 4 NA 1 1 8.12E-18 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 164561625 A G Mar-01 CCDS45732.1 r.? - - intronic 53 0 0 36 8 22.2 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.075923104 1.075923104 1 0.932107866 0.932107866 1 NA NA 0 NA NA 0 4 NA 1 1 1.04E-11 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 164616574 C A PBX1 CCDS1246.1 r.? - - intronic 40 0 0 48 8 16.7 29 5 17.2 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 1.85277193 1.85277193 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 164645843 C A - - - - - - 45 0 0 49 5 10.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.611185629 0.611185629 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 164665345 G T - - - - - - 40 0 0 47 5 10.6 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.635153693 0.635153693 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 164686780 T C - - - - - - 48 0 0 61 10 16.4 44 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.982690619 0.982690619 1 0.247754386 0.247754386 1 NA NA 1 NA NA 1 4 NA 1 1 6.98E-13 1 0.197923942 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 164691304 A C - - - - - - 60 0 0 41 12 29.3 43 12 27.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.562126295 1.562126295 1 3.284368421 1.094789474 3 NA NA 0 NA NA 1 4 NA 1 1 1.69E-18 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 165079957 G T - - - - - - 52 0 0 42 15 35.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.139149701 1.06957485 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 2.65E-24 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 165089782 C A - - - - - - 53 0 0 61 8 13.1 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.784954092 0.784954092 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.09E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 165124892 A T Mar-01 CCDS45732.1 r.? - - intronic 36 0 0 40 6 15 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.72697507 0.72697507 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 165266982 A T - - - - - - 43 0 0 30 8 26.7 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.423507579 1.423507579 1 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 2.07E-12 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 165288978 C A - - - - - - 36 0 0 46 13 28.3 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 1.07E-19 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 165509189 G T BCHE CCDS3198.1 r.? - - intronic 35 0 0 41 10 24.4 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 1.300883331 1.300883331 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 9.51E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 165556602 G A - - - - - - 46 0 0 45 12 26.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.599868263 1.599868263 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.03E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 165710997 C A - - - - - - 51 0 0 45 5 11.1 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000323 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 165741666 G C - - - - - - 46 0 0 49 11 22.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.085616105 1.085616105 1 1.873265323 1.873265323 1 NA NA 0 NA NA 0 4 NA 1 1 1.19E-15 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 14050758 A C MACROD2 CCDS13120.2 r.? - - intronic 68 0 0 44 4 9.1 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.454273453 0.454273453 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 165772178 C A - - - - - - 18 0 0 22 12 54.5 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.641342756 1.320671378 2 2.009009187 2.009009187 1 NA NA 0 NA NA 0 4 NA 1 1 1.51E-22 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 165785385 A G SLC38A11 CCDS2224.1 r.? - - intronic 41 0 0 34 6 17.6 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.05459481 1.05459481 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.86E-08 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 165816441 C T - - - - - - 56 0 0 47 12 25.5 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.09E-17 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 165914966 G A - - - - - - 37 0 0 53 7 13.2 29 1 3.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.790946108 0.790946108 1 0.366245614 0.366245614 1 NA NA 1 NA NA 1 4 NA 1 1 9.85E-09 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 165948351 G A - - - - - - 52 0 0 52 16 30.8 48 7 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 1.572701754 1.572701754 1 NA NA 1 NA NA 1 4 NA 1 1 1.33E-24 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 165993829 C T SCN3A CCDS33312.1 r.? - - intronic 51 0 0 49 9 18.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.35E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 166101159 G T - - - - - - 45 0 0 39 7 17.9 25 7 28 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.072570858 1.072570858 1 3.016140351 1.508070175 2 NA NA 1 NA NA 1 4 NA 1 1 1.04E-09 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 166300866 C G CPE CCDS3810.1 r.? - - intronic 24 0 0 22 8 36.4 6 0 0 1 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.764126171 1.764126171 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.17E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 166730277 C A - - - - - - 27 0 0 32 13 40.6 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.432758483 1.216379242 2 3.920982456 1.960491228 2 NA NA 1 NA NA 1 4 NA 1 1 3.88E-22 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 166782124 T C - - - - - - 47 0 0 54 18 33.3 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE NA 5 NA 3 NA 2 NA 1 NA NA NA NA NA NA NA NA 1 1.965912281 1.965912281 1 NA NA 1 NA NA 1 NA NA 1 1 3.12E-28 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 166955757 A G RPS6KA2 CCDS5294.1 r.? - - intronic 41 0 0 24 14 58.3 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.327345309 1.163672655 2 2.921052632 1.460526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.14E-26 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 166962656 G C ZBBX CCDS3199.2 r.? - - intronic 49 0 0 49 7 14.3 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 1.553894737 1.553894737 1 NA NA 0 NA NA 1 4 NA 1 1 5.58E-09 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 166963697 G C - - - - - - 50 0 0 54 4 7.4 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.443409182 0.443409182 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000161898 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 35152112 G C DLGAP4 CCDS13274.1 r.? - - intronic 41 0 0 37 6 16.2 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.808706587 0.808706587 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 167087536 G C RPS6KA2 ENST00000510118 r.? - - intronic 32 0 0 31 11 35.5 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.417165669 1.417165669 1 2.394736842 1.197368421 2 NA NA 1 NA NA 1 4 NA 1 1 3.77E-18 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 167110369 G A - - - - - - 62 0 0 36 17 47.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.287548221 1.143774111 2 1.330289867 1.330289867 1 NA NA 0 NA NA 0 4 NA 1 1 6.00E-30 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 167173036 A C - - - - - - 35 0 0 46 15 32.6 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 1.228 1.228 1 NA NA 1 NA NA 1 4 NA 1 1 1.35E-23 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 167341079 G A ODZ2 ENST00000403607 r.? - - intronic 45 0 0 46 9 19.6 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0.872526316 0.872526316 1 NA NA 1 NA NA 1 4 NA 1 1 1.82E-12 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 167497342 G T - - - - - - 53 1 1.9 25 6 24 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.163160113 1.163160113 1 0 NA 0 NA NA 0 NA NA 0 NA NA 0.233303855 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 46649914 T C ADARB1 CCDS33590.1 r.? - - downstream 21 0 0 49 29 59.2 21 4 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.319395774 5 3 4 0 1 0.680604226 1 3 NA 1 NA 0.319395774 NA 3.144355751 1.048118584 3 2.236666667 2.236666667 1 NA NA 0 NA NA 1 4 NA 1 1 4.78E-54 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 167514163 G A - - - - - - 71 0 0 68 22 32.4 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.941413174 0.970706587 2 3.113087719 1.55654386 2 NA NA 1 NA NA 1 4 NA 1 1 7.67E-34 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 167520932 C A - - - - - - 69 0 0 55 16 29.1 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.743676647 0.871838323 2 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 3.78E-24 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 167560730 T A ODZ2 ENST00000403607 r.? - - intronic 62 0 0 50 7 14 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.838882236 0.838882236 1 0.215438596 0.215438596 1 NA NA 1 NA NA 1 4 NA 1 1 6.46E-09 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 167733813 G A WWC1 CCDS4366.1 r.? - - intronic 40 0 0 42 13 31 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 3.587052632 1.793526316 2 NA NA 1 NA NA 1 4 NA 1 1 2.72E-20 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 167847367 T A SPOCK3 CCDS34095.1 r.? - - intronic 57 0 0 36 7 19.4 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.940221091 0.940221091 1 1.447934549 1.447934549 1 NA NA 0 NA NA 0 4 NA 1 1 5.74E-10 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 26978838 T C TPST2 CCDS13839.1 r.? - - intronic 27 0 0 34 12 35.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.865583076 0.932791538 2 0.423789474 0.423789474 1 NA NA 0 NA NA 1 4 NA 1 1 1.21E-19 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 167966536 T C XIRP2 CCDS42769.1 r.? - - intronic 45 0 0 46 12 26.1 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.563916168 1.563916168 1 0.614 0.614 1 NA NA 1 NA NA 1 4 NA 1 1 8.12E-18 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 167994304 C G - - - - - - 47 0 0 47 9 19.1 36 2 5.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.95347505 0.95347505 1 0.65922807 0.65922807 1 NA NA 0 NA NA 1 4 NA 1 1 2.24E-12 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 168129232 C T - - - - - - 56 0 0 47 16 34 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.037285429 1.018642715 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 1.98E-25 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 168194867 G A - - - - - - 50 0 0 46 11 23.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.193091816 1.193091816 1 2.848807018 0.949602339 3 NA NA 0 NA NA 1 4 NA 1 1 5.55E-16 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 38387314 C T SOX10 CCDS13964.1 r.? - - upstream 19 0 0 18 12 66.7 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 3.525053575 1.175017858 3 2.801719298 0.933906433 3 NA NA 0 NA NA 1 4 NA 1 1 4.41E-24 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 168273710 C T MIR551B ENST00000384984 r.? - - downstream 43 0 0 44 11 25 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.248003992 1.248003992 1 1.271368421 1.271368421 1 NA NA 0 NA NA 1 4 NA 1 1 3.22E-16 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 168322633 G C - - - - - - 46 0 0 44 12 27.3 48 2 4.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.362820359 1.362820359 1 0.494421053 0.494421053 1 NA NA 0 NA NA 1 4 NA 1 1 4.44E-18 1 0.024220359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 168337608 G C - - - - - - 60 0 0 42 19 45.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.190618212 1.095309106 2 1.864215732 1.864215732 1 NA NA 0 NA NA 0 4 NA 1 1 7.64E-33 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 168339522 A T MLLT4 CCDS47516.1 r.? - - intronic 44 0 0 28 18 64.3 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.566866267 1.283433134 2 2.192982456 1.096491228 2 NA NA 1 NA NA 1 4 NA 1 1 4.77E-35 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 168404987 C A SLIT3 CCDS4369.1 r.? - - intronic 53 0 0 45 8 17.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.066578842 1.066578842 1 2.229789474 1.114894737 2 NA NA 1 NA NA 1 4 NA 1 1 7.14E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 40080791 G T CACNA1I CCDS46710.1 r.? - - intronic 16 0 0 18 4 22.2 3 0 0 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.173256212 1.173256212 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000181 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 168426779 C A SLIT3 CCDS4369.1 r.? - - intronic 21 0 0 51 12 23.5 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.408123752 1.408123752 1 2.44522807 1.222614035 2 NA NA 1 NA NA 1 4 NA 1 1 3.24E-17 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 168528381 G A - - - - - - 62 0 0 50 11 22 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.318243513 1.318243513 1 1.001789474 1.001789474 1 NA NA 1 NA NA 1 4 NA 1 1 1.52E-15 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 168595430 C T - - - - - - 12 0 0 32 15 46.9 17 9 52.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.872255489 0.936127745 2 4.640350877 2.320175439 2 NA NA 1 NA NA 1 4 NA 1 1 1.59E-26 1 4.58E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 40214707 T C ENTHD1 CCDS13998.1 r.? - - intronic 31 0 0 32 17 53.1 27 9 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 2.806302022 1.036653523 2.707078074 3.920052632 0.980013158 4 NA NA 0 NA NA 1 4 NA 1 1 4.02E-31 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 168783013 A G - - - - - - 53 0 0 45 6 13.3 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.796938124 0.796938124 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000108 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 168792917 A T - - - - - - 23 0 0 48 17 35.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 2.531403509 1.265701754 2 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 169027739 C A - - - - - - 44 0 0 57 22 38.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.312918164 1.156459082 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 7.03E-36 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 41081916 A G MCHR1 CCDS14004.1 r.? - - downstream 29 0 0 29 9 31 23 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.638330747 1.638330747 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.79E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 169079656 C A DOCK2 CCDS4371.1 r.? - - intronic 51 0 0 48 8 16.7 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 0.570912281 0.570912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-10 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 169098150 G A DOCK2 CCDS4371.1 r.345g>a c.293G>A p.W98* nonsense 52 0 0 38 12 31.6 22 4 18.2 230 0 0 233 62 26.6 258 34 13.2 3.87E-27 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 1.960491228 1.960491228 1 1.593876248 0.796938124 2 1.421894737 0.710947368 2 4 3 1 1 5.86E-19 2.31E-86 0.00000425 6.74E-37 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 3 169214124 T C MECOM ENST00000494292 r.? - - intronic 59 0 0 51 23 45.1 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.251399202 1.125699601 2 3.249052632 1.083017544 3 NA NA 0 NA NA 1 4 NA 1 1 2.05E-39 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 169284357 A T MECOM ENST00000494292 r.? - - intronic 54 0 0 54 15 27.8 39 2 5.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.387780439 1.387780439 1 0.600368421 0.600368421 1 NA NA 0 NA NA 1 4 NA 1 1 2.20E-22 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 48998283 G T FAM19A5 CCDS46729.1 r.? - - intronic 17 0 0 30 6 20 17 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.056987579 1.056987579 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 8.37E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 169646133 C T - - - - - - 43 0 0 47 17 36.2 33 6 18.2 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.16910978 1.08455489 2 1.960491228 1.960491228 1 NA NA 1 0 0 1 4 NA 1 1 1.81E-27 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 169678158 T G SELL ENST00000236147 r.? - - intronic 42 0 0 59 7 11.9 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.7130499 0.7130499 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.12E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 169712092 C T PALLD CCDS34098.1 r.? - - intronic 61 0 0 48 11 22.9 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.109848607 1.109848607 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 9.31E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 170076646 T C KCNIP1 CCDS4374.1 r.? - - intronic 57 0 0 57 18 31.6 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.893477046 0.946738523 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 9.84E-28 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 170124720 C T LRP2 CCDS2232.1 r.? - - intronic 40 0 0 33 12 36.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.181093812 1.090546906 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 7.86E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 170124721 T G LRP2 CCDS2232.1 r.? - - intronic 41 1 2.4 34 12 35.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.115181637 1.057590818 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 0.18577148 1 1.21E-19 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 170187245 G T - - - - - - 25 0 0 60 16 26.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.599868263 0.799934132 2 3.317754386 1.658877193 2 NA NA 1 NA NA 1 4 NA 1 1 1.86E-23 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 170196902 C A - - - - - - 43 0 0 24 10 41.7 33 14 42.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.664670659 0.832335329 2 3.719298246 1.859649123 2 NA NA 1 NA NA 1 4 NA 1 1 1.80E-17 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 170555225 G T CLDN11 ENST00000486975 r.? - - intronic 34 0 0 34 5 14.7 21 2 9.5 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.733826347 0.733826347 1 1.118333333 1.118333333 1 NA NA 0 0 0 1 4 NA 1 1 0.000000771 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 4613856 C A - - - - - - 41 0 0 64 6 9.4 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.751249501 0.751249501 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000914 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 170751469 G C - - - - - - 47 0 0 33 18 54.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.175648703 1.087824351 2 2.342105263 1.171052632 2 NA NA 1 NA NA 1 4 NA 1 1 3.68E-33 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 170870121 A C UBR3 CCDS2238.2 r.? - - intronic 48 0 0 50 21 42 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.516646707 1.258323353 2 1.486526316 1.486526316 1 NA NA 1 NA NA 1 4 NA 1 1 2.79E-35 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 170887430 T G TNIK CCDS46956.1 r.? - - intronic 61 0 0 68 16 23.5 52 9 17.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.173123752 1.173123752 1 2.03654386 1.01827193 2 NA NA 0 NA NA 1 4 NA 1 1 1.75E-22 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 170912891 A G C1orf129 CCDS41436.1 r.? - - intronic 56 0 0 49 14 28.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.432666667 1.432666667 1 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 171019023 G T - - - - - - 28 0 0 40 8 20 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.969300094 0.969300094 1 0.262438137 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.61E-11 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 171068481 C T - - - - - - 45 0 0 43 17 39.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.366846307 1.183423154 2 3.296210526 1.648105263 2 NA NA 1 NA NA 1 4 NA 1 1 2.84E-28 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 171133048 C T FMO6P ENST00000367754 r.? - - downstream 48 0 0 29 10 34.5 21 1 4.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.067245509 1.033622754 2 0.517052632 0.517052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-16 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 171214185 A C MYO3B CCDS42773.1 r.? - - intronic 23 0 0 51 11 21.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.294275449 1.294275449 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.94E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 5307316 C G - - - - - - 37 0 0 73 11 15.1 31 0 0 151 0 0 240 16 6.7 140 1 0.7 0.755134701 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.206794411 1.206794411 1 0 NA 0 0.53546507 0.53546507 1 0.077673945 NA 0 NA NA 1 1 1.31E-13 1.85E-13 1 0.504285863 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 20 41527517 G A PTPRT CCDS42874.1 r.? - - intronic 26 0 0 43 15 34.9 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5 2 3 2 2 1 1 NA NA NA NA NA NA 2.091213573 1.045606786 2 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 4.05E-24 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 5560315 C T - - - - - - 37 0 0 38 17 44.7 24 2 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 3.572431138 0.893107784 4 0.920991062 0.920991062 1 NA NA 0 NA NA 0 4 NA 1 1 1.99E-29 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 171588451 T G - - - - - - 45 0 0 57 11 19.3 47 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.156459082 1.156459082 1 0.226210526 0.226210526 1 NA NA 1 NA NA 1 4 NA 1 1 7.29E-15 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 171600689 T C MYOC CCDS1297.1 r.? - - downstream 54 0 0 50 18 36 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.157125749 1.078562874 2 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.92E-29 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 171650247 T C UBTD2 CCDS4379.2 r.? - - intronic 45 0 0 56 20 35.7 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.139149701 1.06957485 2 1.314175439 1.314175439 1 NA NA 1 NA NA 1 4 NA 1 1 6.31E-32 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 172069717 C T - - - - - - 63 0 0 43 6 14 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.678510066 0.678510066 1 1.131198867 1.131198867 1 NA NA 0 NA NA 0 4 NA 1 1 8.13E-08 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 172112657 A T - - - - - - 49 0 0 29 18 62.1 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 3.009676791 1.504838396 2 1.203595594 1.203595594 1 NA NA 0 NA NA 0 4 NA 1 1 1.25E-34 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 172150961 G T - - - - - - 56 0 0 39 14 35.9 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 1.605017544 1.605017544 1 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 172222264 G A - - - - - - 49 0 0 40 14 35 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.696275164 0.848137582 2 0.407231592 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.25E-22 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 172369355 T C ERGIC1 CCDS34292.1 r.? - - intronic 20 0 0 28 4 14.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000116 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 172379082 G A ERGIC1 CCDS34292.1 r.2275g>a c.? p.? 3'UTR variant 34 0 0 34 7 20.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.234355289 1.234355289 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 6537884 G A - - - - - - 44 0 0 59 33 55.9 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 5.026536926 1.256634232 4 2.58543274 1.112325997 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 4.06E-60 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 172410029 G A - - - - - - 40 0 0 38 8 21.1 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.022611599 1.022611599 1 0.77826482 0.77826482 1 NA NA 0 NA NA 0 4 NA 1 1 1.67E-11 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 172417583 A T - - - - - - 55 0 0 43 8 18.6 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.901449087 0.901449087 1 0.977355821 0.977355821 1 NA NA 0 NA NA 0 4 NA 1 1 4.85E-11 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 172564391 C G C5orf41 CCDS34293.1 r.? - - downstream 45 0 0 48 15 31.2 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 2.86E-23 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 172779817 T G - - - - - - 64 0 0 46 5 10.9 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 172890294 G T GALNTL6 CCDS34104.1 r.? - - intronic 28 0 0 35 6 17.1 17 0 0 195 0 0 147 18 12.2 129 0 0 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.82875158 0.82875158 1 0 NA 0 0.591273057 0.691964637 0.854484501 0 NA 0 NA NA 1 1 2.24E-08 1.12E-19 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 2 173088036 G A - - - - - - 59 0 0 54 8 14.8 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.886818363 0.886818363 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.31E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 173089613 G A - - - - - - 48 0 0 42 5 11.9 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.5940499 0.5940499 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 173179179 G A NLGN1 CCDS3222.1 r.? - - intronic 56 0 0 52 9 17.3 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.863618762 0.863618762 1 0.376701754 0.376701754 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-12 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 173267366 G A - - - - - - 54 0 0 39 12 30.8 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 8.43E-19 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 173399896 G T GALNTL6 CCDS34104.1 r.? - - intronic 38 0 0 23 9 39.1 33 3 9.1 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.894981683 0.947490842 2 0.823512775 0.823512775 1 NA NA 0 NA NA 0 4 NA 1 1 1.50E-15 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 173489227 G T NLGN1 CCDS3222.1 r.? - - intronic 57 0 0 50 21 42 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.096646707 1.048323353 2 2.860578947 0.953526316 3 NA NA 0 NA NA 1 4 NA 1 1 2.79E-35 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 173561047 C A - - - - - - 52 0 0 73 9 12.3 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.983017964 0.983017964 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.42E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 173664209 C G - - - - - - 50 0 0 75 6 8 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.639361277 0.639361277 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000234 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 173677195 T C - - - - - - 43 0 0 52 12 23.1 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 1.846155689 0.923077844 2 2.222315789 1.111157895 2 NA NA 1 NA NA 1 4 NA 1 1 4.19E-17 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 173850211 A T RAPGEF4 CCDS42775.1 r.1283a>u c.1140A>T p.G380G silent 46 0 0 44 15 34.1 34 4 11.8 303 1 0.3 260 71 27.3 164 23 14 1.73E-19 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.043277445 1.021638723 2 1.271087719 1.271087719 1 1.635820359 0.81791018 2 1.508070175 0.754035088 2 4 3 1 0.781025539 6.12E-24 1.47E-99 0.0000257 4.06E-26 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 174089160 G C ENSG00000091436 CCDS2251.1 r.4465g>c c.? p.? 3'UTR variant 65 0 0 50 8 16 36 0 0 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.958722555 0.958722555 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 1.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 174099378 A G GALNT7 CCDS3815.1 r.? - - intronic 46 0 0 29 5 17.2 22 2 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.833598081 0.833598081 1 0.823512775 0.823512775 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000336 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 7156287 A T STS CCDS14127.1 r.? - - intronic 73 0 0 71 4 5.6 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.488562629 0.488562629 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000464961 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 174219855 G T GALNT7 CCDS3815.1 r.? - - intronic 59 0 0 42 13 31 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.502415145 1.502415145 1 0.932107866 0.932107866 1 NA NA 0 NA NA 0 4 NA 1 1 2.72E-20 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 174286830 G T - - - - - - 58 0 0 69 18 26.1 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 2.085916168 1.042958084 2 2.401122807 0.800374269 3 NA NA 1 NA NA 1 4 NA 1 1 5.16E-26 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 8442096 C A ENSG00000227978 ENST00000418307 r.? - - intronic 49 0 0 48 22 45.8 30 0 0 111 0 0 246 75 30.5 244 8 3.3 0.003480978 FALSE TRUE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 3.995744356 0.998936089 4 0 NA 0 2.66092146 0.88697382 3 0.366177169 1.128963753 0.32434803 NA 3 1 1 5.76E-38 3.13E-109 1 0.0000382 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 4 174420091 C G - - - - - - 45 0 0 33 5 15.2 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.736668071 0.736668071 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 174690387 T C - - - - - - 46 0 0 45 21 46.7 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.263315719 1.13165786 2 1.447934549 1.447934549 1 NA NA 0 NA NA 0 4 NA 1 1 1.60E-36 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 174856011 G T NAALADL2 CCDS46960.1 r.? - - intronic 47 0 0 59 17 28.8 37 1 2.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.437700599 1.437700599 1 0.317842105 0.317842105 1 NA NA 0 NA NA 1 4 NA 1 1 1.74E-25 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 174902859 C T SFXN1 CCDS4394.1 r.? - - upstream 46 0 0 47 26 55.3 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 4.41958483 1.473194943 3 2.286175439 1.143087719 2 NA NA 1 NA NA 1 4 NA 1 1 1.69E-47 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 53083494 G A - - - - - - 46 0 0 61 22 36.1 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.885117764 0.961705921 3 1.047701754 1.047701754 1 NA NA 1 NA NA 0 4 NA 1 1 4.38E-35 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 175121613 G A NAALADL2 CCDS46960.1 r.? - - intronic 45 0 0 52 8 15.4 22 5 22.7 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.768770459 0.768770459 1 2.67222807 0.89074269 3 NA NA 0 0 0 1 4 NA 1 1 2.42E-10 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 175254593 C T NAALADL2 CCDS46960.1 r.? - - intronic 31 0 0 33 8 24.2 15 2 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.208067864 1.208067864 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 4.85E-12 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 175284492 C T CPLX2 CCDS4396.1 r.? - - intronic 52 0 0 53 8 15.1 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 1.206794411 1.206794411 1 0.370385965 0.370385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.83E-10 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 175315182 A G CPLX2 CCDS4396.1 r.? - - downstream 22 0 0 38 7 18.4 18 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 1.470530938 1.470530938 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 8530272 G A KAL1 CCDS14130.1 r.? - - intronic 34 0 0 66 16 24.2 44 6 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 2.111288503 1.055644251 2 1.509093788 1.509093788 1 NA NA 0 NA NA 0 4 NA 1 1 1.03E-22 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 175545816 A G - - - - - - 27 0 0 36 15 41.7 27 2 7.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.081670659 1.040835329 2 0.871122807 0.871122807 1 NA NA 0 NA NA 1 4 NA 1 1 1.54E-25 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 175577388 A G - - - - - - 43 0 0 44 22 50 16 2 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.496007984 1.248003992 2 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 4.51E-39 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 175643406 A G - - - - - - 21 0 0 47 12 25.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 2.973052632 1.486526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.09E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 175762757 T A - - - - - - 49 0 0 37 5 13.5 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.654277563 0.654277563 1 1.809918187 1.809918187 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000119 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 175860732 G T - - - - - - 7 0 0 39 13 33.3 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 2.661341317 0.887113772 3 0.983438596 0.983438596 1 NA NA 1 NA NA 1 4 NA 1 1 8.79E-21 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 8783354 C T - - - - - - 66 0 0 95 61 64.2 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 5.601021565 1.120204313 5 2.774069464 1.193482829 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 2.53E-115 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 176033908 T G - - - - - - 59 0 0 61 26 42.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.126598802 1.063299401 2 4.155491228 1.385163743 3 NA NA 0 NA NA 1 4 NA 1 1 1.53E-43 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 176073263 T C - - - - - - 39 0 0 52 6 11.5 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.574081836 0.574081836 1 0.388473684 0.388473684 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000261 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176163412 G C RFWD2 CCDS30944.1 r.? - - intronic 56 0 0 47 6 12.8 33 3 9.1 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.766978044 0.766978044 1 0.980245614 0.980245614 1 NA NA 1 0 0 1 4 NA 1 1 0.000000141 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 176215604 C T - - - - - - 49 0 0 47 10 21.3 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.063299401 1.063299401 1 2.67222807 0.89074269 3 NA NA 0 NA NA 1 4 NA 1 1 4.27E-14 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176232707 G C - - - - - - 35 0 0 64 9 14.1 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.844874251 0.844874251 1 0.258526316 0.258526316 1 NA NA 1 NA NA 1 4 NA 1 1 4.20E-11 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 176330668 A C - - - - - - 45 0 0 42 13 31 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.502415145 1.502415145 1 1.511281686 1.511281686 1 NA NA 0 NA NA 0 4 NA 1 1 2.72E-20 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176378721 G A - - - - - - 60 0 0 55 18 32.7 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.959389222 0.979694611 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 4.61E-28 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 176378776 G A - - - - - - 54 0 0 41 10 24.4 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.182546114 1.182546114 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 9.51E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 9065061 C A - - - - - - 56 0 0 79 5 6.3 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.549632957 0.549632957 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000518 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 9525237 G T TBL1X CCDS14133.1 r.? - - intronic 31 0 0 76 8 10.5 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.916054929 0.916054929 1 1.142916619 1.142916619 1 NA NA 0 NA NA 0 4 NA 1 1 5.44E-09 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 176627923 C T - - - - - - 39 0 0 38 19 50 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.496007984 1.248003992 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 6.16E-34 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 176636528 C A - - - - - - 56 0 0 34 16 47.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.351239521 1.17561976 2 4.414473684 1.471491228 3 NA NA 0 NA NA 1 4 NA 1 1 3.09E-28 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 176646302 G A - - - - - - 44 0 0 54 12 22.2 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 1.992807018 1.992807018 1 NA NA 1 NA NA 1 4 NA 1 1 6.90E-17 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176697640 G T PAPPA2 CCDS41438.1 r.? - - intronic 46 0 0 66 18 27.3 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 0.81791018 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 176726025 G A - - - - - - 53 0 0 49 5 10.2 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.611185629 0.611185629 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 176834261 C A ASTN1 CCDS1319.1 r.? - - intronic 63 0 0 67 20 29.9 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.791612774 0.895806387 2 1.195684211 1.195684211 1 NA NA 1 NA NA 1 4 NA 1 1 4.42E-30 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 9613905 T C TBL1X CCDS14133.1 r.? - - intronic 42 0 0 66 7 10.6 43 8 18.6 188 1 0.5 389 33 8.5 249 12 4.8 1.02E-05 TRUE TRUE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.924779262 0.924779262 1 2.063907681 1.03195384 2 0.741568276 1.012633316 0.732316688 0.532621337 0.532621337 1 4 3 1 0.610292126 0.000000047 1.73E-29 4.85E-11 7.42E-09 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 4 176855988 A G GPM6A CCDS3824.1 r.? - - intronic 50 0 0 36 6 16.7 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.809365578 0.809365578 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.68E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 177051010 A T - - - - - - 41 0 0 49 16 32.7 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.632389222 0.816194611 2 2.519192982 0.839730994 3 NA NA 0 NA NA 1 4 NA 1 1 4.37E-25 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 177270004 G A - - - - - - 49 0 0 52 10 19.2 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.958467066 0.958467066 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 1.28E-13 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 177270006 G A - - - - - - 48 0 0 53 9 17 34 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.848642715 0.848642715 1 0.341385965 0.341385965 1 NA NA 0 NA NA 1 4 NA 1 1 7.10E-12 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 32948259 G A - - - - - - 16 0 0 31 10 32.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 2.115982281 1.05799114 2 2.436789474 0.812263158 3 NA NA 0 NA NA 1 4 NA 1 1 3.94E-16 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 177371595 T C - - - - - - 28 0 0 37 14 37.8 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.264982036 1.132491018 2 0.657087719 0.657087719 1 NA NA 1 NA NA 1 4 NA 1 1 3.35E-23 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 177393203 C T - - - - - - 28 0 0 48 5 10.4 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 0.831169661 0.831169661 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 177423091 T C - - - - - - 53 0 0 41 9 22 27 1 3.7 46 0 0 217 21 9.7 206 16 7.8 4.61E-10 FALSE TRUE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.066230103 1.066230103 1 0.334834865 NA 0 0.470110546 0.470110546 1 0.705868093 0.705868093 1 NA 3 1 1 5.92E-13 1.57E-20 0.126579904 1.72E-14 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b 4 177444541 A T - - - - - - 37 0 0 43 13 30.2 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.463643142 1.463643142 1 1.619876777 1.619876777 1 NA NA 0 NA NA 0 4 NA 1 1 3.88E-20 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 177464510 A T - - - - - - 49 0 0 47 19 40.4 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.420774451 1.210387226 2 1.745052632 1.745052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 11682553 C A ARHGAP6 CCDS14140.1 r.1269g>u c.396G>T p.K132N missense 9 0 0 69 6 8.7 16 1 6.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.759016941 0.759016941 1 0.687969227 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000143 1 0.077068876 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 177904663 G A - - - - - - 39 0 0 50 6 12 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.719041916 0.719041916 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 178104551 G T - - - - - - 41 0 0 51 10 19.6 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 1.56643513 1.56643513 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 1.04E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 13072969 T A - - - - - - 52 0 0 64 7 10.9 47 8 17 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 0.950952259 0.950952259 1 1.886367235 0.943183618 2 NA NA 0 NA NA 0 4 NA 1 1 3.78E-08 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 178274402 C T NEIL3 CCDS3828.1 r.? - - intronic 26 0 0 38 9 23.7 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.148620611 1.148620611 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.79E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 17314939 C A - - - - - - 40 0 0 54 32 59.3 48 18 37.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 3 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.739265469 1.579755156 3 4.161104195 1.790224244 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 1.63E-59 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 178330071 C A ZFP2 CCDS4440.1 r.? - - intronic 53 0 0 60 13 21.7 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 1.734267465 0.867133733 2 1.162245614 1.162245614 1 NA NA 1 NA NA 1 4 NA 1 1 5.07E-18 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 178481778 C T - - - - - - 43 0 0 48 11 22.9 24 4 16.7 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 1.830171657 0.915085828 2 2.132912281 2.132912281 1 NA NA 1 NA NA 1 4 NA 1 1 9.31E-16 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 178534673 C A - - - - - - 39 0 0 32 12 37.5 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 5.03E-20 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 178633240 T C - - - - - - 28 0 0 46 5 10.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.544129741 0.544129741 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 178642802 G T - - - - - - 46 0 0 45 9 20 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.47E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 178690179 C T - - - - - - 57 0 0 56 8 14.3 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0.282526316 0.282526316 1 NA NA 0 NA NA 1 4 NA 1 1 4.48E-10 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 18232050 G T BEND2 CCDS14184.1 r.? - - intronic 39 0 0 62 14 22.6 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 2.114564327 1.057282164 2 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.42E-19 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 178902490 A G PDE11A CCDS42786.1 r.? - - intronic 59 0 0 48 15 31.2 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 1.271087719 1.271087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.86E-23 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 178952085 A G PIK3CA CCDS43171.1 r.3297a>g c.3140A>G p.H1047R missense 55 0 0 42 13 31 35 4 11.4 182 0 0 474 195 41.1 463 60 13 3.54E-46 TRUE TRUE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.54752495 1.54752495 1 1.342 1.342 1 2.051718563 1.025859281 2 1.530350877 0.765175439 2 4 3 1 1 2.72E-20 5.06128500435029e-312 0.0000289 2.26E-63 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 19074285 G T GPR64 CCDS43923.1 r.? - - intronic 39 0 0 107 6 5.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.364463357 4.32434803 5 2 2 2 0.635536643 0.67565197 6 3 2 2 0.364463357 0.32434803 0.523962842 0.523962842 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.0000183 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 179153122 C A - - - - - - 28 0 0 22 10 45.5 20 4 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.205157713 1.102578857 2 1.809918187 1.809918187 1 NA NA 0 NA NA 0 4 NA 1 1 5.98E-18 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 179261825 G A SOAT1 CCDS1330.1 r.? - - upstream 35 0 0 39 11 28.2 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.689748503 0.844874251 2 2.768385965 1.384192982 2 NA NA 1 NA NA 1 4 NA 1 1 7.20E-17 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 23860208 G T APOO CCDS14208.1 r.? - - intronic 42 0 0 85 59 69.4 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 6.652716676 1.108786113 6 2.973802465 1.279413593 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 7.69E-115 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 24235568 C T ZFX CCDS14211.1 r.? - - downstream 40 0 0 96 9 9.4 39 7 17.9 139 0 0 486 47 9.7 237 38 16 2.06E-33 TRUE TRUE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.901088426 0.901088426 1 1.986233736 0.993116868 2 0.929846567 0.929846567 1 1.775404457 0.887702228 2 4 3 1 1 1.71E-09 5.99E-44 1.04E-09 1.99E-44 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 179477980 T C TTN ENST00000356127 r.42077a>g c.41852A>G p.K13951R missense 44 0 0 52 22 42.3 37 6 16.2 130 0 0 278 108 38.8 242 61 25.2 2.15E-65 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.534622754 1.267311377 2 1.745052632 1.745052632 1 2.324902196 1.162451098 2 2.714526316 1.357263158 2 4 3 1 1 5.59E-37 2.96E-170 3.18E-08 2.28E-83 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 179503395 T A C1orf125 CCDS30948.1 r.? - - intronic 60 0 0 49 5 10.2 32 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.611185629 0.611185629 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 179640064 C T PEX5L CCDS3236.1 r.? - - intronic 31 0 0 44 16 36.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.817093812 0.908546906 2 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 5.57E-26 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25259259 A T - - - - - - 50 0 0 54 13 24.1 40 12 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 2.310237347 0.960210817 2.405968884 3.328883356 1.432179395 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 1.12E-18 1 1.20E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 179809991 G A - - - - - - 17 0 0 46 13 28.3 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 2.261740519 1.130870259 2 0.855719298 0.855719298 1 NA NA 1 NA NA 1 4 NA 1 1 1.07E-19 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 179841088 C T - - - - - - 53 0 0 33 10 30.3 30 2 6.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.468489642 1.468489642 1 0.606322593 0.606322593 1 NA NA 0 NA NA 0 4 NA 1 1 8.14E-16 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 179841632 T C - - - - - - 48 0 0 51 5 9.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.489217565 0.489217565 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 179916348 C A - - - - - - 34 0 0 43 13 30.2 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.809588822 0.904794411 2 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 3.88E-20 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 179918877 A G - - - - - - 45 0 0 30 18 60 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.907900282 1.453950141 2 2.262397733 1.770733818 1.277661109 NA NA 0 NA NA 0 4 NA 1 1 3.12E-34 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 179974009 G A - - - - - - 56 0 0 38 8 21.1 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.022611599 1.022611599 1 0.443429956 0.443429956 1 NA NA 0 NA NA 0 4 NA 1 1 1.67E-11 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 179991416 A G - - - - - - 46 0 0 49 6 12.2 22 4 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.609025948 0.609025948 1 2.142491228 2.142491228 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000182 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 180140840 A G - - - - - - 46 0 0 38 8 21.1 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.022611599 1.022611599 1 0.850661548 0.850661548 1 NA NA 0 NA NA 0 4 NA 1 1 1.67E-11 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 180201273 G A - - - - - - 31 0 0 61 19 31.1 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 2.485516966 0.828505655 3 1.060070175 1.060070175 1 NA NA 1 NA NA 1 4 NA 1 1 4.64E-29 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 25596924 G T - - - - - - 49 0 0 70 5 7.1 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7.594031116 4.32434803 6 2 1 2 0.405968884 0.67565197 6 3 2 2 0.594031116 0.32434803 0.680609343 0.680609343 1 0.277406946 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000289 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 180420404 A G BTNL3 CCDS47358.1 r.? - - intronic 43 0 0 39 10 25.6 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 2.045956088 1.022978044 2 1.532631579 1.532631579 1 NA NA 1 NA NA 1 4 NA 1 1 5.44E-15 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 180579538 T A ZNF385B CCDS33339.1 r.? - - intronic 35 0 0 38 13 34.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.049269461 1.024634731 2 2.219017544 1.109508772 2 NA NA 1 NA NA 1 4 NA 1 1 5.88E-21 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 180663030 C A FXR1 CCDS33894.1 r.? - - intronic 38 0 0 39 5 12.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 180768815 C T - - - - - - 57 0 0 54 20 37 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.217045908 1.108522954 2 1.055649123 1.055649123 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-32 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 27705934 C A - - - - - - 40 0 0 58 21 36.2 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.430558574 4.32434803 3 2 2 2 0.569441426 0.67565197 4 3 2 2 0.430558574 0.32434803 2.686971984 0.895657328 3 1.109627785 1.109627785 1 NA NA 0 NA NA 0 4 NA 1 1 1.34E-33 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 180877153 G T - - - - - - 51 0 0 39 6 15.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.746361072 0.746361072 1 1.004504594 1.004504594 1 NA NA 0 NA NA 0 4 NA 1 1 4.43E-08 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 180991618 C T - - - - - - 52 0 0 45 7 15.6 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.934754491 0.934754491 1 0.258526316 0.258526316 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000003 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 181015302 A T - - - - - - 57 0 0 52 9 17.3 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.838444581 0.838444581 1 1.294091503 1.294091503 1 NA NA 0 NA NA 0 4 NA 1 1 5.92E-12 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 181127376 C T - - - - - - 46 0 0 50 17 34 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.037285429 1.018642715 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 6.43E-27 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 181231729 T A - - - - - - 36 0 0 41 6 14.6 36 0 0 144 0 0 180 10 5.6 173 0 0 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.707589069 0.707589069 1 0 NA 0 0.271404026 0.271404026 1 0 NA 0 NA NA 1 1 6.05E-08 3.44E-08 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 4 181297012 G T - - - - - - 43 0 0 36 18 50 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.423250235 1.211625117 2 1.674174323 1.674174323 1 NA NA 0 NA NA 0 4 NA 1 1 3.18E-32 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 181333930 G T - - - - - - 45 0 0 35 7 20 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.969300094 0.969300094 1 1.511281686 1.511281686 1 NA NA 0 NA NA 0 4 NA 1 1 4.65E-10 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 181395456 G T - - - - - - 58 0 0 45 10 22.2 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 1.24954386 1.24954386 1 NA NA 1 NA NA 1 4 NA 1 1 2.66E-14 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 28296003 G T - - - - - - 56 0 0 59 5 8.5 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.594321357 0.594321357 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29470810 G C IL1RAPL1 CCDS14218.1 r.? - - intronic 52 0 0 54 5 9.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.650257485 0.650257485 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.00000806 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 181861421 T G - - - - - - 64 0 0 37 11 29.7 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.779628743 0.889814371 2 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 3.70E-17 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 30061593 C T - - - - - - 44 0 0 58 40 69 36 17 47.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.824491018 1.206122754 4 5.237443147 2.253295582 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 3.75E-78 1 6.00E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 181947492 C A - - - - - - 40 0 0 45 20 44.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 2.151846208 1.075923104 2 1.511281686 1.511281686 1 NA NA 0 NA NA 0 4 NA 1 1 2.68E-34 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 182548426 G A NEUROD1 CCDS2283.1 r.? - - upstream 10 0 0 21 8 38.1 5 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.282958084 1.141479042 2 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 7.50E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 182564527 T C RGS16 CCDS1348.1 r.? - - downstream 18 0 0 49 14 28.6 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.421894737 1.421894737 1 NA NA 1 NA NA 1 4 NA 1 1 3.50E-21 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 182614660 G A - - - - - - 41 0 0 43 6 14 27 0 0 226 0 0 199 30 15.1 168 6 3.6 0.007232453 FALSE TRUE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.678510066 0.678510066 1 0 NA 0 0.731821571 0.856448034 0.854484501 0.325785274 1.173319789 0.277661109 NA 3 1 1 8.13E-08 1.43E-34 1 0.000223484 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9852b X 31959338 C T DMD CCDS14233.1 r.? - - intronic 52 0 0 71 45 63.4 41 9 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 4.432938124 1.477646041 3 2.441181128 1.05026489 2.32434803 NA NA 1 NA NA 0 4 NA 1 1 4.41E-85 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 182688308 G A - - - - - - 45 0 0 49 13 26.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 0.793942116 2 2.305192982 1.152596491 2 NA NA 1 NA NA 1 4 NA 1 1 2.71E-19 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 182707887 T G - - - - - - 46 0 0 43 5 11.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.695073852 0.695073852 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 182759608 C A MCCC1 CCDS3241.1 r.? - - intronic 46 0 0 44 8 18.2 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 5.90E-11 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 182870612 C A - - - - - - 40 0 0 33 10 30.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.468489642 1.468489642 1 0.325785274 NA 0 NA NA 0 NA NA 0 NA NA 1 1 8.14E-16 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 182930195 A T PPP1R1C CCDS46468.1 r.? - - intronic 66 0 0 53 17 32.1 50 8 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 1.723508772 1.723508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.08E-26 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 183055416 G C - - - - - - 63 0 0 43 7 16.3 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0.789979576 0.789979576 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.15E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 183179125 C T PDE1A CCDS2285.1 r.? - - intronic 45 0 0 49 6 12.2 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.731025948 0.731025948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 183387407 G A PDE1A CCDS33344.1 r.59c>u c.? p.? 5'UTR variant 51 0 0 51 8 15.7 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.940746507 0.940746507 1 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 2.05E-10 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 183390706 G T NMNAT2 CCDS1353.1 r.? - - upstream 42 0 0 59 6 10.2 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.611185629 0.611185629 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000561 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 183390708 G C NMNAT2 CCDS1353.1 r.? - - upstream 40 0 0 59 6 10.2 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.611185629 0.611185629 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000561 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32134374 C A DMD CCDS14233.1 r.? - - intronic 39 0 0 56 11 19.6 33 0 0 0 0 NA 0 0 NA 2 0 0 1 FALSE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.37043513 1.37043513 1 0 NA 0 NA NA 1 0 NA 0 NA NA 1 1 5.91E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 183710248 G A RGL1 CCDS1359.1 r.? - - intronic 56 0 0 62 21 33.9 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.031293413 1.015646707 2 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-33 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 183732230 T A RGL1 CCDS1359.1 r.? - - intronic 42 0 0 46 5 10.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.653129741 0.653129741 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 183906784 G C NCKAP1 CCDS2288.1 r.? - - upstream 58 0 0 43 5 11.6 38 2 5.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.695073852 0.695073852 1 0.570912281 0.570912281 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000257 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 183910703 A G - - - - - - 35 0 0 55 24 43.6 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.612518962 1.306259481 2 1.23877193 1.23877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.28E-40 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 183939407 C T GLT25D2 CCDS1360.1 r.? - - intronic 41 0 0 34 8 23.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.408123752 1.408123752 1 3.166947368 1.583473684 2 NA NA 1 NA NA 1 4 NA 1 1 6.32E-12 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 184010436 C T ECE2 CCDS3256.2 r.3062c>u c.? p.? 3'UTR variant 18 0 0 50 19 38 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.896966068 0.948483034 2 2.613368421 0.871122807 3 NA NA 0 NA NA 1 4 NA 1 1 5.00E-31 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 184126081 G A - - - - - - 39 0 0 39 12 30.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 1.992807018 1.992807018 1 NA NA 1 NA NA 1 4 NA 1 1 8.43E-19 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 184149918 G A EIF2B5 ENST00000444495 r.? - - intronic 38 0 0 41 9 22 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.098243513 1.098243513 1 0.69454386 0.69454386 1 NA NA 0 NA NA 1 4 NA 1 1 5.92E-13 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 184479349 C T - - - - - - 41 0 0 50 19 38 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.276966068 1.138483034 2 2.229789474 1.114894737 2 NA NA 1 NA NA 1 4 NA 1 1 5.00E-31 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32138001 C A DMD CCDS14233.1 r.? - - intronic 47 0 0 64 14 21.9 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.32434803 3 2 2 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.531251497 1.531251497 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.31E-19 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 184805728 C T - - - - - - 45 0 0 50 7 14 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.838882236 0.838882236 1 0.581684211 0.581684211 1 NA NA 1 NA NA 1 4 NA 1 1 6.46E-09 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 184811783 C G - - - - - - 57 0 0 46 18 39.1 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.342878244 1.171439122 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 9.41E-30 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 185064571 G A MAP3K13 CCDS3270.1 r.? - - intronic 44 0 0 43 8 18.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.92851497 0.92851497 1 1.895280702 1.895280702 1 NA NA 0 NA NA 1 4 NA 1 1 4.85E-11 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 185447799 G A - - - - - - 54 0 0 41 6 14.6 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.874834331 0.874834331 1 1.508070175 1.508070175 1 NA NA 1 NA NA 1 4 NA 1 1 6.05E-08 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 185557961 T A ZNF804A CCDS2291.1 r.? - - intronic 57 0 0 54 5 9.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.557257485 0.557257485 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000806 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32696090 G A DMD CCDS14233.1 r.? - - intronic 58 0 0 83 10 12 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.079041916 1.079041916 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.70E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 185841532 G A - - - - - - 41 0 0 48 17 35.4 42 3 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 0.764807018 0.764807018 1 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 185841533 C A - - - - - - 41 0 0 48 17 35.4 42 3 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 0.764807018 0.764807018 1 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 185907136 T C - - - - - - 52 0 0 53 9 17 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 7.10E-12 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 186032120 C G - - - - - - 37 0 0 39 15 38.5 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.865902681 0.93295134 2 1.809918187 1.809918187 1 NA NA 0 NA NA 0 4 NA 1 1 6.85E-25 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 186165515 T G SNX25 CCDS34116.1 r.? - - intronic 43 0 0 64 24 37.5 50 11 22 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 1.817437676 0.908718838 2 1.990910005 1.55824576 1.277661109 NA NA 0 NA NA 0 4 NA 1 1 1.23E-38 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 186386910 G T C1orf27 ENST00000287859 r.? - - intronic 66 0 0 58 18 31 35 1 2.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.85752495 0.928762475 2 0.312385965 0.312385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.42E-27 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 186434138 C T KNG1 CCDS43183.1 r.? - - upstream 31 0 0 39 15 38.5 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.921926148 0.960963074 2 1.424403509 1.424403509 1 NA NA 0 NA NA 1 4 NA 1 1 6.85E-25 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 186599237 G T FSIP2 ENST00000424728 r.? - - upstream 43 0 0 50 13 26 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.557924152 1.557924152 1 1.163368421 1.163368421 1 NA NA 1 NA NA 1 4 NA 1 1 3.65E-19 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 186735099 C A - - - - - - 33 0 0 27 9 33.3 18 7 38.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 4.190280702 2.095140351 2 NA NA 1 NA NA 1 4 NA 1 1 8.44E-15 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 33614268 C A - - - - - - 46 0 0 50 8 16 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 1.278722555 1.278722555 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 1.74E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 187082416 C A - - - - - - 54 0 0 41 11 26.8 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.605860279 1.605860279 1 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 1.34E-16 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 33740834 C A - - - - - - 49 0 0 79 8 10.1 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4.32434803 5 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.807193613 0.807193613 1 1.287168231 1.287168231 1 NA NA 0 NA NA 0 4 NA 1 1 7.43E-09 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 187147270 C G - - - - - - 31 0 0 36 8 22.2 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.04E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 187189140 C A - - - - - - 54 0 0 55 16 29.1 49 6 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.743676647 0.871838323 2 1.314175439 1.314175439 1 NA NA 1 NA NA 1 4 NA 1 1 3.78E-24 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 187204484 G A F11 CCDS3847.1 r.? - - intronic 30 0 0 62 27 43.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.606526946 1.303263473 2 2.434339961 1.905309588 1.277661109 NA NA 1 NA NA 0 4 NA 1 1 1.76E-45 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 187600634 G A - - - - - - 53 0 0 54 7 13 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 0.269298246 0.269298246 1 NA NA 1 NA NA 1 4 NA 1 1 1.13E-08 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 187724684 G A - - - - - - 40 0 0 50 25 50 34 10 29.4 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.996007984 1.498003992 2 3.166947368 1.583473684 2 NA NA 1 0 0 1 4 NA 1 1 3.34E-44 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 34306904 A C - - - - - - 48 0 0 63 4 6.3 33 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.518740181 0.518740181 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000294233 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 187848054 T A - - - - - - 47 0 0 65 24 36.9 38 8 21.1 159 0 0 416 139 33.4 314 32 10.2 3.80E-22 TRUE TRUE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 2.211053892 1.105526946 2 1.909463687 1.494499342 1.277661109 2.001333333 1.000666667 2 0.923058275 0.923058275 1 4 3 1 1 1.94E-38 1.87E-207 1.67E-11 3.50E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 188133454 A T - - - - - - 56 0 0 56 13 23.2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.390147705 1.390147705 1 2.43445614 1.21722807 2 NA NA 1 NA NA 1 4 NA 1 1 1.89E-18 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 188320752 G T - - - - - - 49 0 0 59 18 30.5 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.82756487 0.913782435 2 0.947929825 0.947929825 1 NA NA 1 NA NA 1 4 NA 1 1 2.03E-27 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 188477628 G A LPP CCDS3291.1 r.? - - intronic 42 0 0 35 12 34.3 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.712261477 0.856130739 2 1.118333333 1.118333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.83E-19 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 188519255 A T - - - - - - 46 1 2.2 53 15 28.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 0.333929825 0.333929825 1 NA NA 1 NA NA 1 4 NA 0.205924651 1 1.60E-22 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 188555560 G C LPP CCDS3291.1 r.? - - intronic 45 0 0 54 14 25.9 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.292932136 1.292932136 1 1.389087719 1.389087719 1 NA NA 0 NA NA 1 4 NA 1 1 1.64E-20 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 188597843 G A - - - - - - 24 0 0 53 12 22.6 32 9 28.1 358 0 0 486 140 28.8 357 39 10.9 9.06E-28 TRUE TRUE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.354195609 1.354195609 1 2.542935052 1.990304812 1.277661109 1.725700599 0.862850299 2 0.986405412 0.986405412 1 4 3 1 1 5.39E-17 2.73E-198 4.94E-14 7.83E-39 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 1 188752790 C A - - - - - - 29 0 0 38 14 36.8 27 6 22.2 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.205061876 1.102530938 2 2.391368421 1.195684211 2 0 0 1 NA NA 1 4 NA 1 1 5.28E-23 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 188883651 G A - - - - - - 40 0 0 40 6 15 32 3 9.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.898802395 0.898802395 1 1.012561404 1.012561404 1 NA NA 1 NA NA 1 4 NA 1 1 5.18E-08 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 189045410 G A TPRG1 CCDS3292.1 r.? - - downstream 63 0 0 47 10 21.3 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.063299401 1.063299401 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 4.27E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 189078654 T G - - - - - - 53 0 0 42 6 14.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856858283 0.856858283 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 189102459 T G - - - - - - 58 0 0 54 21 38.9 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.330894212 1.165447106 2 1.508070175 1.508070175 1 NA NA 1 NA NA 1 4 NA 1 1 2.12E-34 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 189116735 A T - - - - - - 45 0 0 56 14 25 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.498003992 1.498003992 1 1.085950912 1.085950912 1 NA NA 1 NA NA 0 4 NA 1 1 2.91E-20 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 189158988 A G - - - - - - 50 0 0 47 9 19.1 37 2 5.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.95347505 0.95347505 1 0.635684211 0.635684211 1 NA NA 0 NA NA 1 4 NA 1 1 2.24E-12 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 35962962 G A CXorf22 CCDS14237.2 r.? - - intronic 52 0 0 50 30 60 38 16 42.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.94038268 1.23509567 4 4.671532977 2.009825085 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 3.98E-56 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 189222597 C A - - - - - - 25 0 0 39 8 20.5 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.228363273 1.228363273 1 1.085950912 1.085950912 1 NA NA 1 NA NA 0 4 NA 1 1 2.09E-11 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 189457058 G T - - - - - - 52 0 0 48 12 25 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 2.359052632 1.179526316 2 NA NA 1 NA NA 1 4 NA 1 1 1.44E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 189612800 T C - - - - - - 55 0 0 59 8 13.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.90E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 22 37254229 C T NCF4 CCDS13935.1 r.? - - upstream 35 0 0 19 7 36.8 16 5 31.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.292921926 5 3 4 0 1 0.707078074 1 3 NA 1 NA 0.292921926 NA 1.944857145 0.972428572 2 3.672842105 0.918210526 4 NA NA 0 NA NA 1 4 NA 1 1 3.73E-12 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 189979886 T G COL5A2 CCDS33350.1 r.? - - intronic 53 0 0 46 18 39.1 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.342878244 1.171439122 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 9.41E-30 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 190186702 C G - - - - - - 38 0 0 26 5 19.2 31 2 6.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.277661109 2 1 2 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 1.150467066 1.150467066 1 0.588223411 0.588223411 1 NA NA 1 NA NA 0 4 NA 1 1 0.000000188 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37305377 A G PRRG1 CCDS14239.1 r.? - - intronic 59 0 0 70 40 57.1 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 4.701597517 1.175399379 4 3.2068243 1.379666151 2.32434803 NA NA 0 NA NA 0 4 NA 1 1 4.35E-73 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 190279198 T C FAM5C CCDS1373.1 r.? - - intronic 39 0 0 44 13 29.5 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.767644711 0.883822355 2 2.089754386 1.044877193 2 NA NA 1 NA NA 1 4 NA 1 1 5.49E-20 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 190427868 G T SLC40A1 CCDS2299.1 r.? - - intronic 52 0 0 42 12 28.6 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.389578947 1.389578947 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-18 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 38860084 C G - - - - - - 63 0 0 64 23 35.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 2.955995637 0.985331879 3 1.387034732 1.387034732 1 NA NA 1 NA NA 0 4 NA 1 1 1.44E-36 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 190706256 C A - - - - - - 41 0 0 58 13 22.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.118211577 1.118211577 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 3.12E-18 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 191388511 C A - - - - - - 40 0 0 39 4 10.3 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.514177645 0.514177645 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 191441135 C T - - - - - - 43 0 0 46 8 17.4 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.042610778 1.042610778 1 1.992807018 1.992807018 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-11 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 45844914 C A - - - - - - 46 0 0 54 4 7.4 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.609313864 0.609313864 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000161898 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 191687145 T A - - - - - - 50 0 0 54 14 25.9 25 1 4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.551932136 1.551932136 1 0.430877193 0.430877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.64E-20 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 191832384 G A - - - - - - 39 0 0 53 15 28.3 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 1.734280702 1.734280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-22 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 192319876 C T - - - - - - 40 0 0 46 15 32.6 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 1.35E-23 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 192597768 C A C3orf59 CCDS3302.2 r.? - - intronic 30 0 0 53 15 28.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.412740519 1.412740519 1 1.636298246 1.636298246 1 NA NA 0 NA NA 1 4 NA 1 1 1.60E-22 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 192798378 C T - - - - - - 34 0 0 49 8 16.3 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.813698603 0.813698603 1 1.141877193 1.141877193 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-10 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 193317639 C T OPA1 CCDS33917.1 r.? - - intronic 40 0 0 53 23 43.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.16653493 1.083267465 2 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 6.43E-39 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 193431834 G C - - - - - - 58 0 0 61 31 50.8 51 10 19.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.535944112 1.267972056 2 2.307298246 1.153649123 2 NA NA 0 NA NA 1 4 NA 1 1 9.37E-55 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 193601069 T C - - - - - - 44 0 0 59 21 35.6 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.133157685 1.066578842 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.06E-33 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 193622422 T G - - - - - - 43 0 0 40 4 10 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 193643283 T G - - - - - - 47 0 0 58 18 31 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.54752495 0.773762475 2 2.354385965 1.177192982 2 NA NA 0 NA NA 1 4 NA 1 1 1.42E-27 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 193643545 T G - - - - - - 40 0 0 45 4 8.9 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 193782521 T A - - - - - - 37 0 0 50 10 20 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.36E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 193857822 G C - - - - - - 51 0 0 55 13 23.6 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.414115768 1.414115768 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.46E-18 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 13882290 G A GPM6B CCDS48084.1 r.? - - intronic 38 0 0 64 8 12.5 50 5 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.732316688 4.32434803 5 2 1 2 0.267683312 0.67565197 5 3 2 2 0.732316688 0.32434803 1.090541582 1.090541582 1 1.109627785 1.109627785 1 NA NA 0 NA NA 0 4 NA 1 1 1.35E-09 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 194021571 G T - - - - - - 55 0 0 45 17 37.8 33 11 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.264982036 1.132491018 2 3.587052632 1.793526316 2 NA NA 1 NA NA 1 4 NA 1 1 7.37E-28 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 194040423 A T - - - - - - 21 0 0 47 19 40.4 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.016774451 1.008387226 2 2.942982456 0.980994152 3 NA NA 0 NA NA 1 4 NA 1 1 1.16E-31 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 194095680 A G - - - - - - 43 0 0 52 10 19.2 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.150467066 1.150467066 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.28E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 194117119 G A - - - - - - 49 0 0 60 17 28.3 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 2.41E-25 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 194247570 G A - - - - - - 32 0 0 33 7 21.2 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.058307385 1.058307385 1 1.153649123 1.153649123 1 NA NA 0 NA NA 1 4 NA 1 1 2.98E-10 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 194304409 A C - - - - - - 60 0 0 51 7 13.7 29 2 6.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.820906188 0.820906188 1 0.743263158 0.743263158 1 NA NA 1 NA NA 1 4 NA 1 1 7.46E-09 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 194598809 G A - - - - - - 56 0 0 59 8 13.6 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.814914172 0.814914172 1 0.398561404 0.398561404 1 NA NA 1 NA NA 1 4 NA 1 1 6.90E-10 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 194674212 A C - - - - - - 50 0 0 45 11 24.4 37 10 27 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.462051896 1.462051896 1 2.908421053 1.454210526 2 NA NA 1 NA NA 1 4 NA 1 1 4.24E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 194815712 G A C3orf21 CCDS43188.1 r.? - - intronic 22 0 0 43 24 55.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.78554491 1.392772455 2 2.283754386 1.141877193 2 NA NA 0 NA NA 1 4 NA 1 1 4.35E-44 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 57860634 T C - - - - - - 41 0 0 35 10 28.6 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.332612953 4.32434803 1 2 1 2 0.667387047 0.67565197 2 3 1 2 0.332612953 0.32434803 1.236843871 1.236843871 1 1.309360787 1.309360787 1 NA NA 0 NA NA 0 4 NA 1 1 1.60E-15 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 195029113 C T - - - - - - 44 0 0 59 18 30.5 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.82756487 0.913782435 2 1.378807018 1.378807018 1 NA NA 1 NA NA 1 4 NA 1 1 2.03E-27 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 68295240 A G - - - - - - 38 0 0 15 5 33.3 32 6 18.8 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 3 2.566189755 2 1 1 1 1 0.433810245 NA 2 NA 1 NA 0.566189755 1.662341317 1.662341317 1 1.755566481 1.755566481 1 0 0 1 NA NA 0 4 NA 1 1 0.000000009 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 195176561 G T - - - - - - 46 0 0 38 7 18.4 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.61E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 195176571 G T - - - - - - 47 0 0 43 7 16.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.976698603 0.976698603 1 0.333929825 0.333929825 1 NA NA 1 NA NA 1 4 NA 1 1 2.15E-09 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195356142 T A - - - - - - 65 0 0 47 12 25.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 1.745052632 1.745052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.09E-17 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195363071 C G - - - - - - 56 0 0 62 18 29 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.737684631 0.868842315 2 2.886877193 1.443438596 2 NA NA 1 NA NA 1 4 NA 1 1 5.72E-27 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195435616 T C - - - - - - 39 0 0 53 12 22.6 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.354195609 1.354195609 1 1.228 1.228 1 NA NA 1 NA NA 1 4 NA 1 1 5.39E-17 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 195464663 G C MUC20 ENST00000381954 r.? - - downstream 43 0 0 49 14 28.6 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.427716567 1.427716567 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 3.50E-21 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 22838814 T C - - - - - - 51 0 0 53 20 37.7 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.338372568 4.32434803 3 2 2 2 0.661627432 0.67565197 4 3 2 2 0.338372568 0.32434803 2.763556478 0.921185493 3 0.543717615 0.543717615 1 NA NA 1 NA NA 0 4 NA 1 1 1.65E-32 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195540066 A T - - - - - - 52 0 0 61 15 24.6 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.474035928 1.474035928 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 4 NA 1 1 1.73E-21 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195601544 C A - - - - - - 58 0 0 53 6 11.3 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.677097804 0.677097804 1 0.258526316 0.258526316 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000293 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 195601573 C G - - - - - - 56 0 0 54 6 11.1 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 195981145 G A - - - - - - 65 0 0 43 14 32.6 47 15 31.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 3.436245614 1.718122807 2 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 196000077 C T - - - - - - 44 0 0 48 10 20.8 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.246339321 1.246339321 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.37E-14 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 196233956 G C C3orf43 CCDS43192.1 r.1604c>g c.? p.? 3'UTR variant 56 0 0 49 14 28.6 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.427716567 1.427716567 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 3.50E-21 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 196234035 C G C3orf43 CCDS43192.1 r.1525g>c c.? p.? 3'UTR variant 50 0 0 47 19 40.4 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.016774451 1.008387226 2 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.16E-31 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 196444512 A C PIGX CCDS3320.1 r.? - - intronic 59 0 0 38 4 10.5 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.524161677 0.524161677 1 2.648684211 0.882894737 3 NA NA 0 NA NA 1 4 NA 1 1 0.0000403 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 196548538 T G SLC39A10 CCDS33353.1 r.1399u>g c.1124T>G p.L375R missense 63 0 0 48 15 31.2 34 7 20.6 152 0 0 515 178 34.6 428 86 20.1 2.89E-82 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.869508982 0.934754491 2 2.219017544 1.109508772 2 2.073237525 1.036618762 2 2.165157895 1.082578947 2 4 3 1 1 2.86E-23 2.81E-268 3.73E-10 2.05E-107 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 196705438 C T DNAH7 CCDS42794.1 r.? - - intronic 55 0 0 49 19 38.8 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.324902196 1.162451098 2 2.531403509 1.265701754 2 NA NA 1 NA NA 1 4 NA 1 1 3.12E-31 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 196720287 G A - - - - - - 33 0 0 48 5 10.4 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.519169661 0.519169661 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 196901147 C G CFHR2 ENST00000367421 r.? - - intronic 56 0 0 51 21 41.2 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.468710579 1.234355289 2 0.926385965 0.926385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.73E-35 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 197132257 T A ZBTB41 CCDS30960.1 r.? - - intronic 45 0 0 38 7 18.4 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 0.355473684 0.355473684 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 197144925 T A - - - - - - 51 0 0 48 24 50 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 2.496007984 1.248003992 2 1.742245614 1.742245614 1 NA NA 0 NA NA 1 4 NA 1 1 1.71E-42 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 197158847 T C - - - - - - 46 0 0 60 13 21.7 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.083267465 1.083267465 1 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 5.07E-18 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 197191032 G A HECW2 CCDS33354.1 r.? - - intronic 43 0 0 38 7 18.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.102530938 1.102530938 1 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 8.61E-10 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 197226040 G A - - - - - - 9 0 0 28 4 14.3 6 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.713858283 0.713858283 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 197317444 T A - - - - - - 30 0 0 47 6 12.8 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.638978044 0.638978044 1 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000141 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 197447467 G A MIR922 CCDS46987.1 r.? - - intronic 32 0 0 45 11 24.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 1.218051896 1.218051896 1 2.107175439 2.107175439 1 NA NA 0 NA NA 1 4 NA 1 1 4.24E-16 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 197525769 G A DENND1B CCDS44289.1 r.? - - intronic 46 0 0 100 9 9 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 8.663585187 4 6 2 2 2 0.336414813 1 6 NA 3 NA 0.663585187 NA 0.959004104 0.959004104 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 2.47E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 198008015 C T ANKRD44 CCDS33355.1 r.? - - intronic 36 0 0 24 9 37.5 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 2.997005988 0.999001996 3 0.614 0.614 1 NA NA 1 NA NA 0 4 NA 1 1 2.39E-15 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 198198438 T G - - - - - - 46 0 0 72 17 23.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 4 4 2 2 2 1 1 NA NA NA NA NA NA 1.886115768 0.943057884 2 1.658877193 1.658877193 1 NA NA 1 NA NA 0 4 NA 1 1 7.97E-24 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 198447628 C T RFTN2 CCDS2323.1 r.? - - intronic 45 0 0 55 19 34.5 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.067245509 1.033622754 2 2.940736842 1.470368421 2 NA NA 1 NA NA 1 4 NA 1 1 4.51E-30 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 198601157 G T - - - - - - 45 0 0 54 6 11.1 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.665113772 0.665113772 1 1.195684211 1.195684211 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000329 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 29344724 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 55 0 0 60 6 10 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.699201597 0.699201597 1 0 NA 0 NA NA 0 NA NA 0 NA NA 1 1 0.000000621 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 198757144 C T PLCL1 ENST00000428675 r.? - - intronic 48 0 0 51 9 17.6 28 2 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.05459481 1.05459481 1 0.764807018 0.764807018 1 NA NA 1 NA NA 1 4 NA 1 1 4.92E-12 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 198959648 G A PLCL1 CCDS2326.1 r.? - - intronic 63 0 0 59 7 11.9 33 2 6.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.7130499 0.7130499 1 0.657087719 0.657087719 1 NA NA 1 NA NA 1 4 NA 1 1 2.12E-08 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 199233411 G T - - - - - - 68 0 0 58 7 12.1 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.725033932 0.725033932 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.88E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 199349830 T C - - - - - - 57 0 0 64 23 35.9 48 7 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 1.572701754 1.572701754 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-36 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 199458976 G T - - - - - - 51 0 0 48 5 10.4 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.623169661 0.623169661 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 200215460 G A SATB2 CCDS2327.1 r.? - - intronic 34 0 0 42 8 19 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.96E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 200287354 C T - - - - - - 34 0 0 33 11 33.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 8.54E-18 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 200796298 A G C2orf60 CCDS42795.1 r.2706u>c c.? p.? 3'UTR variant 49 0 0 46 8 17.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.042610778 1.042610778 1 2.509859649 1.254929825 2 NA NA 1 NA NA 1 4 NA 1 1 8.61E-11 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 201027035 A T CACNA1S CCDS1407.1 r.? - - intronic 35 0 0 63 23 36.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.187085828 1.093542914 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 9.25E-37 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 201212754 C G - - - - - - 58 0 0 58 9 15.5 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.928762475 0.928762475 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 1.67E-11 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 201858117 A G FAM126B CCDS2335.1 r.? - - intronic 31 0 0 30 10 33.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.272877193 2.272877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-16 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 76358498 G A - - - - - - 24 0 0 13 5 38.5 16 3 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.38822692 1.304475247 1 1 0 0 0.61177308 0.695524753 2 2 0 0 0.38822692 0.304475247 1.301393512 1.301393512 1 1.518364153 1.518364153 1 NA NA 1 NA NA 0 4 NA 1 1 3.89E-09 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 202370789 A G PPP1R12B CCDS30973.1 r.? - - intronic 50 0 0 41 17 41.5 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.486686627 1.243343313 2 2.272877193 1.136438596 2 NA NA 1 NA NA 1 4 NA 1 1 1.03E-28 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 202449164 G A ALS2CR11 CCDS2349.1 r.? - - intronic 48 0 0 70 15 21.4 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.282291417 1.282291417 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.70E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 202465155 G A ALS2CR11 CCDS2349.1 r.? - - intronic 42 0 0 23 8 34.8 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.085221557 1.042610778 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.79E-13 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 202623722 G A ALS2 CCDS42800.1 r.? - - intronic 61 0 0 52 10 19.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.150467066 1.150467066 1 2.617578947 1.308789474 2 NA NA 1 NA NA 1 4 NA 1 1 1.28E-13 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 76195950 T C - - - - - - 39 0 0 22 6 27.3 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.38822692 1.304475247 1 1 0 0 0.61177308 0.695524753 2 2 0 0 0.38822692 0.304475247 0.922806309 0.922806309 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.09E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 203074894 A G ADORA1 CCDS1434.1 r.? - - intronic 46 0 0 40 10 25 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 7.22E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 203266019 G A - - - - - - 23 0 0 51 17 33.3 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.337508772 1.168754386 2 NA NA 1 NA NA 1 4 NA 1 1 9.59E-27 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 203735014 T A LAX1 CCDS44297.1 r.? - - intronic 42 0 0 39 4 10.3 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.617177645 0.617177645 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 76456730 G C - - - - - - 47 0 0 30 15 50 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.38822692 1.304475247 1 1 0 0 0.61177308 0.695524753 2 2 0 0 0.38822692 0.304475247 1.690121444 1.217467706 1.38822692 2.083712508 1.597356878 1.304475247 NA NA 1 NA NA 1 4 NA 1 1 4.41E-27 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 204436109 G T - - - - - - 44 0 0 38 19 50 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.996007984 1.498003992 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 6.16E-34 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 204575079 C A MDM4 ENST00000391947 r.? - - intronic 32 0 0 49 15 30.6 21 3 14.3 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.833556886 0.916778443 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 4.10E-23 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 204725247 C T - - - - - - 34 0 0 47 16 34 40 8 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.037285429 1.018642715 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 1.98E-25 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 204805838 G A NFASC CCDS30982.1 r.? - - intronic 50 0 0 35 7 20 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.198403194 1.198403194 1 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 4.65E-10 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 204841033 G A - - - - - - 34 0 0 55 9 16.4 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.982690619 0.982690619 1 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 1.01E-11 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 205251856 G A - - - - - - 44 0 0 47 19 40.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.420774451 1.210387226 2 2.025122807 2.025122807 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 84946367 A T - - - - - - 57 0 0 31 13 41.9 43 7 16.3 0 0 NA 1 0 0 1 0 0 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 1.253654691 1.253654691 1 1.316454027 1.316454027 1 0 NA 0 0 0 1 4 NA 1 1 2.32E-22 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 205884052 T C PARD3B CCDS42806.1 r.? - - intronic 67 0 0 52 5 9.6 42 3 7.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0.764807018 0.764807018 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000668 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 206449746 A G PARD3B CCDS42806.1 r.? - - intronic 38 0 0 41 6 14.6 29 0 0 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.874834331 0.874834331 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 206520930 C A - - - - - - 41 0 0 49 19 38.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.324902196 1.162451098 2 1.895859649 1.895859649 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-31 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 85925063 G T DACH2 CCDS48140.1 r.? - - intronic 47 0 0 27 13 48.1 34 11 32.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1.304475247 1 1 0 0 1 0.695524753 NA 2 NA 0 NA 0.304475247 1.439159681 1.439159681 1 2.616755243 2.005983056 1.304475247 NA NA 1 NA NA 0 4 NA 1 1 2.29E-23 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 207090295 G A - - - - - - 36 0 0 49 13 26.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 0.793942116 2 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 2.71E-19 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 87216337 A C - - - - - - 47 0 0 41 16 39 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.539412018 3 1 2 0 1 0.460587982 1 1 NA 1 NA 0.539412018 NA 1.377256915 1.377256915 1 0 0 1 NA NA 0 NA NA 1 4 NA 1 1 1.40E-26 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 208292650 G T - - - - - - 27 0 0 47 7 14.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.892810379 0.892810379 1 0.667859649 0.667859649 1 NA NA 1 NA NA 1 4 NA 1 1 4.12E-09 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 208620902 G A CCNYL1 CCDS46503.1 r.? - - downstream 48 0 0 42 8 19 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483034 1.138483034 1 2.940736842 1.470368421 2 NA NA 1 NA NA 1 4 NA 1 1 3.96E-11 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 89992775 G T - - - - - - 33 0 0 24 11 45.8 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.348276567 3 1 2 0 1 0.651723433 1 2 NA 0 NA 0.348276567 NA 1.529853981 1.529853981 1 0.928333333 0.928333333 1 NA NA 0 NA NA 1 4 NA 1 1 1.15E-19 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 209185068 A G - - - - - - 30 0 0 40 4 10 33 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.599201597 0.599201597 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 209362806 G A - - - - - - 53 0 0 46 9 19.6 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.17443513 1.17443513 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.82E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 209462076 G T - - - - - - 34 0 0 45 8 17.8 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.066578842 1.066578842 1 1.152596491 1.152596491 1 NA NA 1 NA NA 1 4 NA 1 1 7.14E-11 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 209876711 G A HSD11B1 CCDS1489.1 r.? - - intronic 55 0 0 55 16 29.1 41 7 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.743676647 0.871838323 2 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 3.78E-24 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 209895859 G T HSD11B1 CCDS1489.1 r.? - - intronic 31 0 0 62 19 30.6 40 3 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.833556886 0.916778443 2 0.807894737 0.807894737 1 NA NA 1 NA NA 1 4 NA 1 1 6.66E-29 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 95418293 C A - - - - - - 57 0 0 27 5 18.5 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 0.553522954 0.553522954 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 101942029 A C - - - - - - 43 0 0 34 6 17.6 28 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.46673429 3 1 2 1 1 0.53326571 1 2 NA 1 NA 0.46673429 NA 0.784740045 0.784740045 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 210809867 A C UNC80 CCDS46504.1 r.7025a>c c.6945A>C p.L2315F missense 45 0 0 40 10 25 33 8 24.2 198 0 0 370 68 18.4 296 36 12.2 2.13E-27 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 2.606807018 1.303403509 2 1.102530938 1.102530938 1 1.314175439 1.314175439 1 4 3 1 1 7.22E-15 1.87E-82 4.85E-12 1.11E-37 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b 2 210901728 C A C2orf67 CCDS33370.1 r.? - - intronic 35 0 0 53 15 28.3 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 1.281859649 1.281859649 1 NA NA 1 NA NA 1 4 NA 1 1 1.60E-22 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 96672286 G T DIAPH2 CCDS14467.1 r.? - - intronic 47 0 0 32 13 40.6 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 3 1 2 0 1 1 1 NA NA NA NA NA NA 1.214758483 1.214758483 1 2.589561404 1.294780702 2 NA NA 0 NA NA 1 4 NA 1 1 3.88E-22 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 211202485 C A - - - - - - 30 0 0 52 5 9.6 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 211421103 T C - - - - - - 50 0 0 45 15 33.3 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 9.14E-24 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 211431680 G T RCOR3 CCDS44312.1 r.? - - upstream 35 0 0 45 4 8.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0.667859649 0.667859649 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000791 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 211711014 G T - - - - - - 54 0 0 60 7 11.7 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.701065868 0.701065868 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.39E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 211721039 G C - - - - - - 48 0 0 53 12 22.6 33 6 18.2 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.354195609 1.354195609 1 1.960491228 1.960491228 1 0 0 1 NA NA 1 4 NA 1 1 5.39E-17 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 212083871 T A - - - - - - 43 0 0 53 14 26.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.581892216 0.790946108 2 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 1.22E-20 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 212445262 C T ERBB4 CCDS2394.1 r.? - - intronic 45 0 0 27 11 40.7 15 2 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.438750499 1.21937525 2 1.432666667 1.432666667 1 NA NA 1 NA NA 1 4 NA 1 1 5.92E-19 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 212953505 A C NSL1 CCDS1509.1 r.? - - intronic 26 0 0 27 6 22.2 12 3 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.330227545 1.330227545 1 2.692982456 2.692982456 1 NA NA 1 NA NA 1 4 NA 1 1 4.23E-09 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 213511187 C T - - - - - - 58 0 0 52 18 34.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.073237525 1.036618762 2 2.606807018 1.303403509 2 NA NA 1 NA NA 1 4 NA 1 1 1.39E-28 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 214382888 A T - - - - - - 37 0 0 51 13 25.5 34 3 8.8 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.527964072 1.527964072 1 0.947929825 0.947929825 1 NA NA 1 0 0 1 4 NA 1 1 4.87E-19 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 214759499 G A SPAG16 CCDS2396.1 r.? - - intronic 49 0 0 51 8 15.7 40 1 2.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.940746507 0.940746507 1 0.269298246 0.269298246 1 NA NA 1 NA NA 1 4 NA 1 1 2.05E-10 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 214906206 C T - - - - - - 61 0 0 43 7 16.3 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.976698603 0.976698603 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.15E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 214956196 A T SPAG16 CCDS2396.1 r.? - - intronic 54 0 0 33 9 27.3 33 1 3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 1.635820359 1 0.323157895 0.323157895 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-14 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 216349317 G T USH2A CCDS31025.1 r.? - - intronic 35 0 0 50 14 28 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.677764471 0.838882236 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 4.84E-21 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 103826916 T C IL1RAPL2 CCDS14517.1 r.? - - intronic 46 0 0 29 15 51.7 21 5 23.8 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.792433908 1.215230699 1.474974183 2.087719298 2.087719298 1 NA NA 0 NA NA 1 4 NA 1 1 2.22E-27 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 217113272 G C ESRRG CCDS1517.1 r.? - - intronic 51 0 0 47 9 19.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.14447505 1.14447505 1 2.617578947 1.308789474 2 NA NA 1 NA NA 1 4 NA 1 1 2.24E-12 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 217390388 G A RPL37A ENST00000446558 r.? - - intronic 49 0 0 53 5 9.4 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.563249501 0.563249501 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 217451860 T C - - - - - - 56 0 0 61 20 32.8 56 11 19.6 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.965381238 0.982690619 2 2.111298246 1.055649123 2 0 0 1 NA NA 1 4 NA 1 1 4.89E-31 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 217957410 A T SPATA17 CCDS1519.1 r.? - - intronic 48 0 0 52 16 30.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.845540918 0.922770459 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 1.33E-24 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 218712374 C T TNS1 CCDS2407.1 r.2944g>a c.2491G>A p.G831R missense 21 0 0 61 17 27.9 36 9 25 177 2 1.1 54 16 29.6 48 20 41.7 1.28E-27 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.671772455 0.835886228 2 2.692982456 1.346491228 2 1.773636727 0.886818363 2 4.491894737 2.245947368 2 4 3 1 0.22192751 3.33E-25 2.69E-24 1.63E-13 1.40E-33 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9852b X 110703697 C A - - - - - - 65 0 0 24 9 37.5 25 5 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.474974183 2 1 2 0 0 0.525025817 1 2 NA 0 NA 0.474974183 NA 1.300121307 1.300121307 1 1.754385965 1.754385965 1 NA NA 0 NA NA 1 4 NA 1 1 2.39E-15 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 218818596 C T - - - - - - 59 0 0 47 16 34 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.037285429 1.018642715 2 2.854561404 1.427280702 2 NA NA 1 NA NA 1 4 NA 1 1 1.98E-25 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 219034439 C T CXCR1 CCDS2409.1 r.? - - upstream 61 0 0 50 12 24 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.438083832 1.438083832 1 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 2.49E-17 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 219095673 G C ARPC2 CCDS2410.1 r.? - - intronic 47 0 0 32 5 15.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.934754491 0.934754491 1 1.680421053 1.680421053 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000562 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 219158339 C G PNKD CCDS2411.1 r.? - - intronic 24 0 0 41 10 24.4 17 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.462051896 1.462051896 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 219496491 G A PLCD4 CCDS46516.1 r.? - - intronic 26 0 0 40 12 30 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.79760479 0.898802395 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-18 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 219807295 T C - - - - - - 54 0 0 43 14 32.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.953397206 0.976698603 2 1.928175439 1.928175439 1 NA NA 1 NA NA 1 4 NA 1 1 4.18E-22 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 220179893 A C EPRS CCDS31027.1 r.? - - intronic 42 0 0 40 13 32.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.94740519 0.973702595 2 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 1.30E-20 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 220214920 C G EPRS CCDS31027.1 r.? - - intronic 35 0 0 47 13 27.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.659788423 0.829894212 2 2.089754386 1.044877193 2 NA NA 1 NA NA 1 4 NA 1 1 1.47E-19 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 220552759 G C - - - - - - 23 0 0 42 15 35.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.139149701 1.06957485 2 2.44522807 1.222614035 2 NA NA 1 NA NA 1 4 NA 1 1 2.65E-24 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 121400883 C T - - - - - - 32 0 0 45 33 73.3 27 10 37 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.687031668 1.064678573 4.402297358 3.838916328 1.065324082 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 3.16E-66 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 220802104 A G - - - - - - 13 0 0 13 3 23.1 4 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.384155689 1.384155689 1 0 0 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000344 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 221140835 C A - - - - - - 40 0 0 34 4 11.8 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.707057884 0.707057884 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 221431803 A T - - - - - - 49 0 0 38 4 10.5 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.629161677 0.629161677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 222452957 G C - - - - - - 43 0 0 45 17 37.8 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.264982036 1.132491018 2 1.798912281 1.798912281 1 NA NA 1 NA NA 1 4 NA 1 1 7.37E-28 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 222472975 G T - - - - - - 41 0 0 45 13 28.9 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.731692615 0.865846307 2 1.228 1.228 1 NA NA 1 NA NA 1 4 NA 1 1 7.68E-20 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 222646801 G T - - - - - - 21 0 0 64 11 17.2 17 2 11.8 26 0 0 3 1 33.3 8 0 0 1 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.030626747 1.030626747 1 1.271087719 1.271087719 1 1.995341317 1.995341317 1 0 0 1 4 3 1 1 2.85E-14 0.014925125 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 122432870 G A GRIA3 ENST00000264357 r.? - - intronic 47 0 0 44 7 15.9 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.016695819 1.016695819 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 223140858 C T PAX3 CCDS42826.1 r.? - - intronic 33 0 0 53 5 9.4 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.563249501 0.563249501 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 122876649 G T - - - - - - 40 0 0 45 29 64.4 37 14 37.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.117937782 1.029484445 4 3.921919924 1.088358116 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 1.11E-55 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 223225672 C A - - - - - - 23 0 0 39 14 35.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.151133733 1.075566866 2 2.272877193 1.136438596 2 NA NA 1 NA NA 1 4 NA 1 1 8.19E-23 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 124660273 G A - - - - - - 46 0 0 48 33 68.8 35 10 28.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.399287568 0.999316314 4.402297358 2.967378567 0.989126189 3 NA NA 1 NA NA 0 4 NA 1 1 1.18E-64 1 1.60E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 224061220 C A - - - - - - 39 0 0 42 12 28.6 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.713716567 0.856858283 2 1.594245614 1.594245614 1 NA NA 1 NA NA 1 4 NA 1 1 2.35E-18 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 224700057 C T AP1S3 CCDS42827.1 r.? - - intronic 32 0 0 46 12 26.1 47 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.041916168 1.041916168 1 0.377192982 0.377192982 1 NA NA 1 NA NA 1 4 NA 1 1 8.12E-18 1 0.02328732 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 224878149 C T CNIH3 CCDS1544.1 r.? - - intronic 45 0 0 55 7 12.7 29 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.760986028 0.760986028 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.28E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 153602941 C A FLNA CCDS48194.1 r.54g>u c.? p.? 5'UTR variant 12 0 0 40 31 77.5 4 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.955592828 1.125683348 4.402297358 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.22E-63 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 225281674 A G DNAH14 CCDS44321.1 r.? - - intronic 47 0 0 60 26 43.3 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.594542914 1.297271457 2 1.314175439 1.314175439 1 NA NA 1 NA NA 1 4 NA 1 1 8.84E-44 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 226008105 A G - - - - - - 65 0 0 30 19 63.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.526946108 1.263473054 2 1.850877193 1.850877193 1 NA NA 1 NA NA 1 4 NA 1 1 9.89E-37 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 125150352 G A - - - - - - 51 0 0 54 40 74.1 28 11 39.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.738186174 1.07629853 4.402297358 4.077551667 1.131546931 3.60351971 NA NA 0 NA NA 0 4 NA 1 1 2.76E-80 1 9.70E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 226500778 G T KIAA1486 CCDS46529.1 r.? - - intronic 60 0 0 29 4 13.8 39 0 0 3 0 0 0 0 NA 2 0 0 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.550898204 0.550898204 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 226672286 C G - - - - - - 43 0 0 37 4 10.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.431137725 0.431137725 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 226894597 G A ITPKB CCDS1555.1 r.? - - intronic 23 0 0 33 8 24.2 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.450067864 1.450067864 1 1.658877193 1.658877193 1 NA NA 1 NA NA 1 4 NA 1 1 4.85E-12 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 227090417 G C - - - - - - 16 0 0 27 13 48.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.920159681 0.96007984 2 2.061403509 1.030701754 2 NA NA 1 NA NA 1 4 NA 1 1 2.29E-23 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 227142612 G C - - - - - - 45 0 0 23 5 21.7 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.866267465 0.866267465 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 4 NA 1 1 9.75E-08 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 227658826 A G - - - - - - 42 0 0 63 16 25.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.521972056 0.760986028 2 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 4.48E-23 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 125335591 T C - - - - - - 63 0 0 74 22 29.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.899111058 0.949555529 2 1.400685687 1.400685687 1 NA NA 0 NA NA 0 4 NA 1 1 6.78E-33 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 228643903 C A HIST3H2A CCDS1573.1 r.? - - downstream 59 0 0 59 19 32.2 50 9 18 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.929429142 0.964714571 2 1.938947368 0.969473684 2 NA NA 1 NA NA 1 4 NA 1 1 2.20E-29 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 229186594 C T - - - - - - 53 0 0 50 12 24 39 10 25.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.438083832 1.438083832 1 2.757614035 1.378807018 2 NA NA 1 NA NA 1 4 NA 1 1 2.49E-17 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 229611269 A G NUP133 CCDS1579.1 r.? - - intronic 34 0 0 48 17 35.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.121173653 1.060586826 2 2.229789474 1.114894737 2 NA NA 1 NA NA 1 4 NA 1 1 2.80E-27 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 229718486 T C - - - - - - 41 0 0 53 9 17 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.018642715 1.018642715 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.10E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 229762815 G A URB2 CCDS31052.1 r.? - - intronic 43 0 0 58 22 37.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.270974052 1.135487026 2 2.326736842 1.163368421 2 NA NA 1 NA NA 1 4 NA 1 1 1.13E-35 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 229950220 G A - - - - - - 30 0 0 55 15 27.3 31 1 3.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.635820359 0.81791018 2 0.344701754 0.344701754 1 NA NA 1 NA NA 1 4 NA 1 1 3.01E-22 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 230171785 C T - - - - - - 43 0 0 47 17 36.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.16910978 1.08455489 2 1.594245614 1.594245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.81E-27 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 230203871 T G GALNT2 CCDS1582.1 r.? - - intronic 14 0 0 42 4 9.5 8 1 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.569241517 0.569241517 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000601 1 0.039306956 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 230641575 G T - - - - - - 38 0 0 52 12 23.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.384155689 1.384155689 1 2.359052632 1.179526316 2 NA NA 1 NA NA 1 4 NA 1 1 4.19E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 230755866 G C - - - - - - 42 0 0 40 15 37.5 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.247005988 1.123502994 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 1.09E-24 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 231183402 C G SP140 ENST00000420434 r.? - - intronic 52 0 0 53 33 62.3 46 20 43.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.487025948 1.243512974 2 3.815789474 1.907894737 2 NA NA 1 NA NA 1 4 NA 1 1 2.14E-62 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 231493354 T C C1orf124 CCDS31054.1 r.? - - downstream 47 1 2.1 50 14 28 27 1 3.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.677764471 0.838882236 2 0.398561404 0.398561404 1 NA NA 1 NA NA 1 4 NA 0.209895027 1 4.84E-21 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 232724333 A T - - - - - - 42 0 0 33 15 45.5 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.726367265 1.363183633 2 2.154385965 1.077192982 2 NA NA 1 NA NA 1 4 NA 1 1 2.91E-26 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 233078788 C T - - - - - - 56 0 0 54 5 9.3 27 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.557257485 0.557257485 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.00000806 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 233932296 G A - - - - - - 57 0 0 43 17 39.5 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.366846307 1.183423154 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 2.84E-28 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 234066287 C G SLC35F3 CCDS1600.1 r.? - - intronic 56 0 0 56 18 32.1 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.923437126 0.961718563 2 0.980245614 0.980245614 1 NA NA 1 NA NA 1 4 NA 1 1 6.76E-28 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 234436602 G A SLC35F3 CCDS1600.1 r.? - - intronic 51 0 0 48 12 25 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.498003992 1.498003992 1 1.378807018 1.378807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.44E-17 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 128151886 A G - - - - - - 52 0 0 57 10 17.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.119004832 1.119004832 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 3.40E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 234826065 C T - - - - - - 43 0 0 53 21 39.6 49 9 18.4 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.372838323 1.186419162 2 1.982035088 0.991017544 2 NA NA 1 NA NA 1 4 NA 1 1 1.30E-34 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 236081364 T A - - - - - - 34 0 0 46 6 13 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.778962076 0.778962076 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000123 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 236885640 G A ACTN2 CCDS1613.1 r.? - - intronic 28 0 0 45 15 33.3 36 12 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 3.587052632 1.793526316 2 NA NA 1 NA NA 1 4 NA 1 1 9.14E-24 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 237143733 G A - - - - - - 33 0 0 48 20 41.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.498670659 1.249335329 2 1.992807018 1.992807018 1 NA NA 1 NA NA 1 4 NA 1 1 1.40E-33 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 237268023 T G RYR2 ENST00000366574 r.? - - intronic 45 0 0 31 12 38.7 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.31891018 1.15945509 2 3.026912281 1.51345614 2 NA NA 1 NA NA 1 4 NA 1 1 3.16E-20 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 237379765 C T RYR2 ENST00000366574 r.? - - intronic 39 0 0 49 19 38.8 37 3 8.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.324902196 1.162451098 2 0.872526316 0.872526316 1 NA NA 1 NA NA 1 4 NA 1 1 3.12E-31 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 237522319 T C RYR2 ENST00000366574 r.? - - intronic 36 0 0 49 16 32.7 45 2 4.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.959389222 0.979694611 2 0.473964912 0.473964912 1 NA NA 1 NA NA 1 4 NA 1 1 4.37E-25 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 238071925 T G - - - - - - 58 0 0 49 10 20.4 43 3 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.222371257 1.222371257 1 0.754035088 0.754035088 1 NA NA 1 NA NA 1 4 NA 1 1 6.72E-14 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 131907510 C G HS6ST2 CCDS48169.1 r.? - - intronic 59 0 0 40 8 20 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.278862665 1.278862665 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 238185138 C A - - - - - - 55 0 0 45 4 8.9 47 0 0 139 1 0.7 444 16 3.6 371 1 0.3 0.975975343 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.533289421 0.533289421 1 0 0 1 0.215712575 0.215712575 1 0.032315789 0.032315789 1 3 2 1 0.501794837 0.0000791 1.69E-09 1 0.844273344 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 1 238564960 G C - - - - - - 36 0 0 63 10 15.9 41 1 2.4 0 0 NA 0 0 NA 1 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.952730539 0.952730539 1 0.258526316 0.258526316 1 NA NA 1 0 0 1 4 NA 1 1 9.81E-13 1 0.18577148 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 238773415 G A RAMP1 CCDS2522.1 r.? - - intronic 20 0 0 38 18 47.4 21 4 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.892215569 0.946107784 2 1.666666667 1.666666667 1 NA NA 1 NA NA 1 4 NA 1 1 1.16E-31 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 136212150 G T - - - - - - 28 0 0 52 39 75 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.795734994 1.089370982 4.402297358 1.960959962 1.960959962 1 NA NA 0 NA NA 0 4 NA 1 1 1.08E-78 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 239595717 C G - - - - - - 35 0 0 51 15 29.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.761652695 0.880826347 2 2.035894737 1.017947368 2 NA NA 1 NA NA 1 4 NA 1 1 8.22E-23 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 239625689 T A - - - - - - 51 0 0 56 9 16.1 35 6 17.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.964714571 0.964714571 1 1.842 1.842 1 NA NA 1 NA NA 1 4 NA 1 1 1.20E-11 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 239858810 C T CHRM3 CCDS1616.1 r.? - - intronic 36 0 0 34 9 26.5 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.587884232 1.587884232 1 1.292631579 1.292631579 1 NA NA 1 NA NA 1 4 NA 1 1 9.15E-14 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 240094673 C T - - - - - - 57 0 0 52 5 9.6 36 0 0 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575233533 0.575233533 1 0 0 1 NA NA 1 0 0 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 240566907 T C FMN2 CCDS31069.2 r.? - - intronic 44 0 0 60 21 35 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.097205589 1.048602794 2 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 3.16E-33 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 240598139 G A - - - - - - 11 0 0 33 14 42.4 9 3 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.69261477 0.846307385 2 2.921052632 2.921052632 1 NA NA 1 NA NA 1 4 NA 1 1 4.57E-24 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 240692445 C T GREM2 CCDS31070.1 r.? - - intronic 43 0 0 36 6 16.7 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.000666667 1.000666667 1 1.960491228 1.960491228 1 NA NA 1 NA NA 1 4 NA 1 1 2.68E-08 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 240791770 C T - - - - - - 65 0 0 55 17 30.9 30 3 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.851532934 0.925766467 2 1.077192982 1.077192982 1 NA NA 1 NA NA 1 4 NA 1 1 4.35E-26 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 136791753 C A - - - - - - 38 0 0 46 6 13 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.831260732 0.831260732 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 241076640 T C MYEOV2 CCDS2532.1 r.? - - upstream 21 0 0 30 13 43.3 13 1 7.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.728542914 0.864271457 2 0.675438596 0.675438596 1 NA NA 1 NA NA 1 4 NA 1 1 1.35E-22 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 241092318 A G RGS7 CCDS31071.1 r.? - - intronic 53 0 0 49 15 30.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.833556886 0.916778443 2 2.208245614 1.104122807 2 NA NA 1 NA NA 1 4 NA 1 1 4.10E-23 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 241930382 C A ENSG00000226321 ENST00000443866 r.? - - intronic 19 0 0 47 9 19.1 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.76247505 0.76247505 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-12 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 242041602 G A PASK CCDS2545.1 r.? - - downstream 12 0 0 44 29 65.9 12 2 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.630738523 1.315369261 2 1.464912281 1.464912281 1 NA NA 1 NA NA 1 4 NA 1 1 3.98E-56 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 242752360 C T - - - - - - 38 0 0 45 15 33.3 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995341317 0.997670659 2 2.692982456 1.346491228 2 NA NA 1 NA NA 1 4 NA 1 1 9.14E-24 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 243098838 G A - - - - - - 50 0 0 41 10 24.4 35 2 5.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.462051896 1.462051896 1 0.614 0.614 1 NA NA 1 NA NA 1 4 NA 1 1 9.51E-15 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 244350180 G T - - - - - - 28 0 0 46 13 28.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.695740519 0.847870259 2 2.531403509 1.265701754 2 NA NA 1 NA NA 1 4 NA 1 1 1.07E-19 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 244986517 G C - - - - - - 22 0 0 47 13 27.7 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 1.79460721 0.897303605 2 1.723508772 1.723508772 1 NA NA 0 NA NA 1 4 NA 1 1 1.47E-19 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 245240296 G A EFCAB2 CCDS44341.1 r.? - - intronic 33 0 0 44 19 43.2 43 7 16.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.7988098 1.125506925 2.486710421 1.755824561 1.755824561 1 NA NA 1 NA NA 1 4 NA 1 1 2.39E-32 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 245529680 A T KIF26B CCDS44342.1 r.? - - intronic 31 0 0 51 4 7.8 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 0.505340658 0.505340658 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000129466 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 139313686 C A - - - - - - 57 0 0 46 30 65.2 33 12 36.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.169092288 1.042273072 4 3.776663631 1.048048556 3.60351971 NA NA 1 NA NA 0 4 NA 1 1 8.54E-58 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 245922322 T C SMYD3 CCDS31083.1 r.? - - intronic 52 0 0 54 23 42.6 30 10 33.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.759937442 1.109874885 2.486710421 3.587052632 1.793526316 2 NA NA 0 NA NA 1 4 NA 1 1 1.12E-38 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 245935573 T A SMYD3 CCDS31083.1 r.? - - intronic 56 0 0 56 5 8.9 34 0 0 166 0 0 363 14 3.9 247 0 0 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 0.576606649 0.576606649 1 0 0 1 0.252670329 0.252670329 1 0 NA 0 3 NA 1 1 0.00000965 7.37E-09 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9852b 1 246395355 A T SMYD3 CCDS31083.1 r.? - - intronic 53 0 0 45 11 24.4 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 1.580809239 1.580809239 1 1.109508772 1.109508772 1 NA NA 1 NA NA 1 4 NA 1 1 4.24E-16 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 144878755 C A - - - - - - 52 1 1.9 49 34 69.4 26 5 19.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 4.437653448 1.008031282 4.402297358 1.992086311 1.992086311 1 NA NA 1 NA NA 0 4 NA 0.229451111 1 8.53E-67 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 150631289 G T - - - - - - 28 0 0 94 27 28.7 28 1 3.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.835167925 0.917583962 2 0.373516183 NA 0 NA NA 1 NA NA 0 NA NA 1 1 1.48E-39 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 247848615 T A - - - - - - 47 0 0 66 17 25.8 49 6 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 1.671511408 1.124301938 1.486710421 1.314175439 1.314175439 1 NA NA 1 NA NA 0 4 NA 1 1 1.52E-24 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 150876751 G T PRRG3 CCDS14699.1 r.? - - downstream 26 0 0 45 9 20 29 7 24.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 1.278862665 1.278862665 1 2.500483338 0.960424201 2.60351971 NA NA 0 NA NA 0 4 NA 1 1 1.47E-12 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 248559861 C G - - - - - - 61 0 0 47 15 31.9 48 5 10.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.066713718 1.033356859 2 1.120280702 1.120280702 1 NA NA 1 NA NA 1 4 NA 1 1 1.97E-23 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 248738947 T G OR2T34 CCDS31120.1 r.? - - upstream 54 0 0 68 22 32.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 2.09910735 1.049553675 2 1.432666667 1.432666667 1 NA NA 1 NA NA 0 4 NA 1 1 7.67E-34 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 248747624 T C - - - - - - 49 0 0 71 19 26.8 44 2 4.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 1.736298672 0.868149336 2 0.484736842 0.484736842 1 NA NA 1 NA NA 0 4 NA 1 1 1.29E-27 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 106239092 T C - - - - - - 48 0 0 41 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.342 1.342 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 1898432 G A - - - - - - 25 0 0 53 4 7.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 9 5.384331439 6 3 3 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0.824401198 0.824401198 1 1.896376757 1.896376757 1 NA NA 1 NA NA 0 4 NA 1 1 0.000150502 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 9912830 C G CTNNBIP1 CCDS106.1 r.? - - intronic 20 0 0 23 0 0 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.683385965 1.683385965 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 119933765 T C HAO2 CCDS901.1 r.? - - intronic 58 0 0 39 0 0 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.342 1.342 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 173336395 C A AL022310.2 ENST00000421168 r.? - - intronic 63 0 0 51 0 0 39 4 10.3 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.109508772 1.109508772 1 NA NA 1 0 0 1 1 NA 1 1 1 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 4825103 G A TICAM1 CCDS12136.1 r.? - - intronic 15 0 0 31 3 9.7 20 5 25 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 0.719799008 0.719799008 1 3.039065316 1.013021772 3 NA NA 0 NA NA 0 4 NA 1 1 0.000505952 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 83866341 C T - - - - - - 59 0 0 31 5 16.1 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.803714571 0.803714571 1 1.471491228 1.471491228 1 NA NA 0 NA NA 1 4 NA 1 1 0.000000476 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 5630074 G A SAFB CCDS12142.1 r.? - - intronic 46 0 0 35 9 25.7 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.428592363 5.384331439 3 3 2 2 0.571407637 0.615668561 4 4 2 2 0.428592363 0.384331439 1.907096341 0.953548171 2 1.847751712 1.847751712 1 NA NA 1 NA NA 1 4 NA 1 1 1.23E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 181835340 C A - - - - - - 55 0 0 54 0 0 48 4 8.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.894070175 0.894070175 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 197705904 T C DENND1B CCDS44289.1 r.? - - intronic 39 0 0 83 0 0 56 7 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8.663585187 4 6 2 2 2 0.336414813 1 6 NA 3 NA 0.663585187 NA 0 0 1 1.346491228 1.346491228 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 210974097 G C KCNH1 CCDS31015.1 r.? - - intronic 53 0 0 43 0 0 38 5 13.2 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.421894737 1.421894737 1 0 0 1 NA NA 1 1 NA 1 1 1 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 216112329 T A USH2A CCDS31025.1 r.? - - intronic 68 0 0 60 0 0 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.958701754 0.958701754 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 8352664 A G ENSG00000234563 ENST00000446572 r.? - - intronic 31 0 0 45 0 0 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0 NA 0 1.177192982 1.177192982 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 9838951 T G - - - - - - 42 0 0 48 0 0 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0 0 1 1.00393385 1.00393385 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 233187094 T C PCNXL2 CCDS44335.1 r.? - - intronic 50 0 0 48 0 0 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.271087719 1.271087719 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 239991050 A T CHRM3 CCDS1616.1 r.? - - intronic 46 0 0 39 0 0 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.163368421 1.163368421 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 11535317 G C - - - - - - 39 0 0 10 2 20 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.598403194 0.598403194 1 1.653154103 1.653154103 1 NA NA 0 NA NA 1 4 NA 1 1 0.001095391 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 248423469 A T - - - - - - 58 0 0 50 0 0 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.486710421 4 2 2 2 2 0.513289579 1 3 NA 2 NA 0.486710421 NA 0 0 1 0.958701754 0.958701754 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 11641258 C T - - - - - - 48 0 0 51 0 0 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 2.240561404 2.240561404 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 12027951 G C - - - - - - 37 0 0 30 0 0 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 11723082 T A GREB1 CCDS42655.1 r.? - - intronic 30 0 0 48 0 0 19 3 15.8 0 0 NA 0 0 NA 2 0 0 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.701964912 1.701964912 1 NA NA 1 0 0 1 1 NA 1 1 1 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 22627314 G T - - - - - - 39 0 0 38 0 0 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.701964912 1.701964912 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 12746067 A G - - - - - - 62 0 0 41 4 9.8 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.45606899 0.45606899 1 1.114 1.114 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000546 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 24690309 G T - - - - - - 39 0 0 45 0 0 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.195684211 1.195684211 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 13844378 C T - - - - - - 37 0 0 40 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0 NA 0 1.518578947 1.518578947 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 14117884 C T - - - - - - 47 0 0 40 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 30219123 T G - - - - - - 40 0 0 48 0 0 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 14246965 G A C1orf196 ENST00000412667 r.? - - intronic 49 0 0 40 4 10 27 7 25.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.499201597 0.499201597 1 3.048929825 1.016309942 3 NA NA 0 NA NA 1 4 NA 1 1 0.0000495 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 14534093 G A - - - - - - 46 0 0 50 3 6 44 8 18.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5.21139392 6 4 5 1 1 0.78860608 1 4 NA 2 NA 0.21139392 NA 0.432204593 0.432204593 1 2.324491228 1.162245614 2 NA NA 0 NA NA 1 4 NA 1 1 0.002055544 1 5.90E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 49932207 C A - - - - - - 54 0 0 58 0 0 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.392140351 1.392140351 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 56249687 A T - - - - - - 59 0 0 67 0 0 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.277192982 1.277192982 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 15418609 C T C1QTNF7 CCDS47025.1 r.? - - intronic 46 0 0 47 4 8.5 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.395570042 0.59776426 0.661749236 1.250807018 1.250807018 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000939 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 63157764 C A EHBP1 CCDS1872.1 r.? - - intronic 48 0 0 74 0 0 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.456 1.456 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 16040187 G A PROM1 CCDS47029.1 r.? - - intronic 31 0 0 28 3 10.7 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.497952877 0.497952877 1 1.563508772 1.563508772 1 NA NA 0 NA NA 1 4 NA 1 1 0.000372895 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 16433583 C A - - - - - - 46 0 0 36 4 11.1 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.554113772 0.554113772 1 1.518578947 1.518578947 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000324 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 16625507 T A - - - - - - 48 0 0 48 0 0 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.947929825 0.947929825 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 16841672 G T - - - - - - 50 0 0 48 4 8.3 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0.445084217 1.201486974 0.37044448 1.306684211 1.306684211 1 NA NA 0 NA NA 1 4 NA 1 1 0.000102016 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 104831117 G T - - - - - - 48 0 0 68 0 0 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0 0 1 1.24954386 1.24954386 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 117424523 G T - - - - - - 50 0 0 46 0 0 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 0 0 1 1.497298246 1.497298246 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 17592278 T A RAI1 CCDS11188.1 r.? - - intronic 19 0 0 35 0 0 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0 NA 0 1.296641519 1.296641519 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 19134157 T A - - - - - - 15 0 0 13 3 23.1 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.922155689 0.922155689 1 3.035087719 1.51754386 2 NA NA 1 NA NA 1 4 NA 1 1 0.0000344 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 125951696 A C - - - - - - 47 0 0 33 0 0 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.622807018 1.622807018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 127712634 T C - - - - - - 48 0 0 34 0 0 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.096491228 1.096491228 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 20591606 C A PDE3A CCDS31754.1 r.? - - intronic 50 0 0 28 3 10.7 41 6 14.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.534145709 0.534145709 1 1.426701754 1.426701754 1 NA NA 1 NA NA 1 4 NA 1 1 0.000372895 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 132598623 A T - - - - - - 45 0 0 52 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 0 NA 0 1.456 1.456 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 133429605 G T NCKAP5 CCDS46418.1 r.7361c>a c.? p.? 3'UTR variant 47 0 0 54 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 6 2 3 2 3 1 1 NA NA NA NA NA NA 0 NA 0 1.213333333 1.213333333 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 62184998 C T PTPRG CCDS2895.1 r.? - - intronic 41 0 0 41 3 7.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.39026886 1.102040976 0.354132803 1.789333333 1.789333333 1 NA NA 0 NA NA 1 4 NA 1 1 0.001155993 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 137111894 G T - - - - - - 32 0 0 60 0 0 52 5 9.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 6 2 4 2 2 1 1 NA NA NA NA NA NA 0 NA 0 1.226105263 1.226105263 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 22367921 T G ZNF676 CCDS42539.1 r.? - - intronic 28 0 0 42 0 0 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0 NA 0 1.179157343 1.179157343 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 138433576 C A THSD7B ENST00000409968 r.? - - intronic 38 0 0 58 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.634807018 1.634807018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 178531849 C A PDE11A CCDS42786.1 r.? - - intronic 34 0 0 53 0 0 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.992807018 1.992807018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 184376407 A C - - - - - - 38 0 0 55 0 0 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.798912281 1.798912281 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 196912615 A C DNAH7 CCDS42794.1 r.? - - intronic 49 0 0 53 0 0 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.195684211 1.195684211 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 214875351 C A SPAG16 CCDS2396.1 r.? - - intronic 50 0 0 46 0 0 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.798912281 1.798912281 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 223039836 A T - - - - - - 39 0 0 41 0 0 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 1660180 A G - - - - - - 37 0 0 33 0 0 34 4 11.8 1 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 3.37044448 5 2 3 1 2 0.62955552 1 2 NA 2 NA 0.37044448 NA 0 NA 0 1.389087719 1.389087719 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 47328409 C G KLHL18 CCDS33749.1 r.? - - intronic 45 0 0 51 1 2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.139840319 0.139840319 1 1.742245614 1.742245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.225579006 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 50674351 T A MAPKAPK3 CCDS2832.1 r.? - - intronic 27 0 0 33 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.742245614 1.742245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 56036053 T A ERC2 CCDS46851.1 r.? - - intronic 57 0 0 43 1 2.3 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.122961422 NA 0 1.765789474 1.765789474 1 NA NA 0 NA NA 1 NA NA 1 1 0.193893409 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 81434112 G A - - - - - - 60 0 0 46 0 0 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 1.683385965 1.683385965 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 84102173 G A - - - - - - 59 0 0 47 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 1.836421053 1.836421053 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 89505919 T G EPHA3 CCDS2922.1 r.? - - intronic 56 0 0 57 0 0 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 1.212508772 1.212508772 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 21 25081135 G T - - - - - - 39 0 0 43 5 11.6 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.559012765 5 2 3 2 2 0.440987235 1 3 NA 2 NA 0.559012765 NA 0.759919333 0.759919333 1 1.518578947 1.518578947 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000257 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 25089806 C A - - - - - - 18 0 0 43 0 0 14 3 21.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0 NA 0 2.091192982 2.091192982 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 25474464 C A NINL CCDS33452.1 r.? - - intronic 9 0 0 32 4 12.5 20 6 30 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.624001996 0.624001996 1 3.340276595 1.413978135 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 0.0000201 1 5.70E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 25761813 T G CDH2 CCDS11891.1 r.? - - upstream 55 0 0 37 0 0 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.771929825 0.771929825 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 28344274 C A - - - - - - 47 0 0 26 3 11.5 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.535182998 0.535182998 1 1.260578947 1.260578947 1 NA NA 0 NA NA 1 4 NA 1 1 0.000298167 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 26269702 G T - - - - - - 46 0 0 19 0 0 22 3 13.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.056982456 1.056982456 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 105945593 G A - - - - - - 60 0 0 58 0 0 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 1.342 1.342 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 109239636 C A - - - - - - 42 0 0 53 0 0 40 5 12.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 1.471491228 1.471491228 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 116329919 T G LSAMP ENST00000474851 r.? - - intronic 67 0 0 49 0 0 38 7 18.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 2.166035088 1.083017544 2 NA NA 0 NA NA 1 NA NA 1 1 1 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 28036166 C T - - - - - - 52 0 0 57 4 7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.489441118 0.489441118 1 1.986233736 0.993116868 2 NA NA 0 NA NA 0 4 NA 1 1 0.000199821 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 28792866 C T - - - - - - 48 0 0 44 5 11.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.530529233 0.530529233 1 1.436473684 1.436473684 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000288 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 154302593 T C - - - - - - 57 0 0 47 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.339473093 5 2 3 1 2 0.660526907 1 2 NA 2 NA 0.339473093 NA 0 NA 0 1.836421053 1.836421053 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 171131076 G C TNIK CCDS46956.1 r.? - - intronic 49 0 0 41 0 0 47 4 8.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.000614035 1.000614035 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 130138097 C A - - - - - - 50 0 0 36 3 8.3 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0.414337325 0.414337325 1 1.574628822 1.574628822 1 NA NA 1 NA NA 0 4 NA 1 1 0.000788827 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 178646939 G T - - - - - - 65 0 0 72 0 0 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.153649123 1.153649123 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 30376309 G A - - - - - - 40 0 0 66 5 7.6 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.32434803 4 2 1 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0.531393214 0.531393214 1 1.986233736 0.993116868 2 NA NA 0 NA NA 0 4 NA 1 1 0.0000217 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 182516032 A G ATP11B CCDS33896.1 r.? - - intronic 56 0 0 56 0 0 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.342 1.342 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 193529075 C G - - - - - - 61 0 0 59 0 0 54 6 11.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.306684211 1.306684211 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 6264152 A T - - - - - - 40 0 0 33 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0 NA 0 1.114 1.114 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 9383494 G T ENSG00000226350 ENST00000429096 r.? - - upstream 30 0 0 33 0 0 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0 NA 0 1.397385965 1.397385965 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 32345652 T A SPAST CCDS1778.1 r.? - - intronic 42 0 0 43 4 9.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 4 4 2 2 1 1 NA NA NA NA NA NA 0.743257485 0.743257485 1 1.966877193 1.966877193 1 NA NA 1 NA NA 1 4 NA 1 1 0.000066 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 32687395 G A - - - - - - 47 0 0 27 0 0 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.166666667 1.166666667 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 32875342 A G AHCY CCDS13233.1 r.? - - intronic 31 0 0 32 4 12.5 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0.624001996 0.624001996 1 2.315925106 0.980358174 2.362325493 NA NA 0 NA NA 0 4 NA 1 1 0.0000201 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 32941800 A T DMD CCDS14233.1 r.? - - intronic 47 0 0 71 0 0 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.32434803 4 2 3 2 1 0.67565197 NA 3 NA 2 NA 0.32434803 0 0 1 1.542382622 1.542382622 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 30701624 A T - - - - - - 46 0 0 43 0 0 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0 NA 0 1.221491228 1.221491228 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 33204374 A T AC131263.1 ENST00000500025 r.? - - intronic 37 0 0 32 0 0 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.947877193 0.947877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 33560080 A T - - - - - - 54 0 0 32 0 0 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0 NA 0 1.631912281 1.631912281 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 33654297 A T TRBV25OR9-2 ENST00000399779 r.? - - intronic 41 0 0 24 0 0 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.422406675 3.327893332 2 3 0 0 0.577593325 0.672106668 3 3 0 1 0.422406675 0.327893332 0 NA 0 1.211978779 1.211978779 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 33947210 T A - - - - - - 55 0 0 31 4 12.9 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2.661749236 3 2 2 0 1 0.338250764 1 2 NA 1 NA 0.661749236 NA 0.600335711 0.600335711 1 1.182403509 1.182403509 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000177 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 47385331 G T GABRB1 CCDS3474.1 r.? - - intronic 64 0 0 40 0 0 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.749175439 1.749175439 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 5067451 C T - - - - - - 41 0 0 29 0 0 32 4 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.096491228 1.096491228 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 21362700 A T - - - - - - 43 0 0 38 2 5.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.211576846 0.211576846 1 1.035087719 1.035087719 1 NA NA 1 NA NA 1 4 NA 1 1 0.015598339 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 49533117 A T - - - - - - 66 0 0 26 0 0 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.270350877 1.270350877 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 71461956 T A AMBN CCDS3543.1 r.? - - intronic 47 0 0 33 0 0 17 3 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0 0 1 1.599020412 1.599020412 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 79598021 T A - - - - - - 46 0 0 48 0 0 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0 0 1 1.380972174 1.380972174 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 88076857 A G KLHL8 CCDS3617.1 r.? - - downstream 47 0 0 37 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0 0 1 1.344630801 1.344630801 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 157294379 A T - - - - - - 30 0 0 22 0 0 18 5 27.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2.854484501 2.277661109 2 1 0 1 0.145515499 0.722338891 2 2 1 1 0.854484501 0.277661109 0 NA 0 2.515786279 1.969056006 1.277661109 NA NA 0 NA NA 0 NA NA 1 1 1 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 3999368 C A - - - - - - 48 0 0 27 0 0 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.350877193 1.350877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 36771980 T A - - - - - - 56 0 0 35 0 0 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 4485578 A C - - - - - - 61 0 0 30 0 0 26 4 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.350877193 1.350877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 37152424 G T - - - - - - 30 0 0 40 1 2.5 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.241955165 4.32434803 4 2 2 2 0.758044835 0.67565197 4 3 3 2 0.241955165 0.32434803 0.205849278 0.205849278 1 1.387034732 1.387034732 1 NA NA 0 NA NA 0 4 NA 1 1 0.181679879 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 24751931 A T - - - - - - 51 0 0 44 0 0 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.850877193 1.850877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 67242605 C T - - - - - - 58 0 0 55 0 0 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 2.089754386 2.089754386 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 39412323 G C - - - - - - 34 0 0 48 22 45.8 32 4 12.5 0 0 NA 1 0 0 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 3.202343313 1.067447771 3 1.471491228 1.471491228 1 0 0 1 NA NA 1 4 NA 1 1 5.76E-38 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 96818941 G C - - - - - - 51 0 0 72 0 0 51 6 11.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.271087719 1.271087719 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 40806142 G T - - - - - - 25 0 0 19 2 10.5 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.133128081 4 2 3 1 1 0.866871919 1 2 NA 2 NA 0.133128081 NA 0.538140125 0.538140125 1 1.540385965 1.540385965 1 NA NA 0 NA NA 1 4 NA 1 1 0.004039874 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 136392861 T A SPOCK1 CCDS4191.1 r.? - - intronic 50 0 0 26 0 0 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 42678236 A C - - - - - - 34 0 0 30 0 0 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.938596491 0.938596491 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 163997163 C G AC008446.1 ENST00000486913 r.? - - intronic 57 0 0 40 0 0 40 5 12.5 1 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.346491228 1.346491228 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 180433710 G T BTNL3 CCDS47358.1 r.2423g>u c.? p.? 3'UTR variant 56 0 0 49 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 6 3 3 3 3 1 1 NA NA NA NA NA NA 0 0 1 1.213333333 1.213333333 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 2917735 C T - - - - - - 49 0 0 44 0 0 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.236173977 5.609750478 2 3 2 2 0.763826023 0.390249522 3 3 2 3 0.236173977 0.609750478 0 NA 0 1.857252045 1.857252045 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 45046546 A C SUPT3H CCDS34466.1 r.? - - intronic 48 0 0 43 0 0 34 3 8.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0 0 1 0.911678181 0.911678181 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 45154960 G A CDCP1 CCDS2727.1 r.? - - intronic 40 0 0 44 3 6.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.475457086 0.475457086 1 1.907052632 1.907052632 1 NA NA 1 NA NA 1 4 NA 1 1 0.00142027 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 16900469 C G - - - - - - 47 0 0 54 0 0 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0 NA 0 1.287140658 1.287140658 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 22563510 C G - - - - - - 55 0 0 61 0 0 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0 NA 0 1.752962992 1.752962992 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 41169354 C G TREML2 ENST00000373108 r.? - - upstream 31 0 0 50 2 4 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.36715821 6 4 4 2 2 0.63284179 1 5 NA 2 NA 0.36715821 NA 0.334366967 0.334366967 1 1.187789474 1.187789474 1 NA NA 1 NA NA 0 4 NA 1 1 0.026131524 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 22997764 A C - - - - - - 54 0 0 49 0 0 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0 NA 0 1.323916106 1.323916106 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 30765982 C A - - - - - - 53 0 0 53 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.293868134 5.486552635 2 3 2 2 0.706131866 0.513447365 3 3 2 3 0.293868134 0.486552635 0 NA 0 1.569085755 1.569085755 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 47208784 A C TNFRSF21 CCDS4921.1 r.? - - intronic 52 0 0 40 0 0 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0 0 1 1.015277974 1.015277974 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 49914952 T C DEFB133 ENST00000398721 r.? - - intronic 63 0 0 44 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 3.588049503 2 2 2 1 1 0.411950497 NA 2 NA 2 NA 0.588049503 0 0 1 1.616156775 1.616156775 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 49724920 T C - - - - - - 25 0 0 46 12 26.1 38 13 34.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 2.085916168 1.042958084 2 4.026 1.342 3 NA NA 1 NA NA 0 4 NA 1 1 8.12E-18 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 69288452 C A - - - - - - 40 0 0 28 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 78308930 G T - - - - - - 42 0 0 35 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 50162273 G A CA10 CCDS32684.1 r.? - - intronic 45 0 0 34 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 84788500 G A MRAP2 CCDS5001.1 r.? - - intronic 59 0 0 33 0 0 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.99122807 1.99122807 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 86954528 T C - - - - - - 46 0 0 21 0 0 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.166666667 1.166666667 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 93325601 C A - - - - - - 63 0 0 30 0 0 31 8 25.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 2.263157895 1.131578947 2 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 3238480 C A - - - - - - 47 0 0 57 0 0 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 4.260310284 4 2 3 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0 0 1 1.312836573 1.312836573 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 22462547 C T ENSG00000105889 ENST00000406890 r.? - - intronic 49 0 0 59 0 0 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 4.260310284 3 2 2 2 1 0.739689716 NA 3 NA 2 NA 0.260310284 0 0 1 1.842384098 1.842384098 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 29011621 G C - - - - - - 42 0 0 99 0 0 61 8 13.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0 0 1 1.973097189 0.986548594 2 NA NA 1 NA NA 0 1 NA 1 1 1 1 9.09E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 52139858 C A WDR51A CCDS2846.1 r.? - - intronic 32 0 0 36 4 11.1 20 3 15 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.776113772 0.776113772 1 1.765789474 1.765789474 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000324 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 30749751 A C AC006978.1 ENST00000507825 r.? - - intronic 38 0 0 88 0 0 53 4 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0 0 1 1.129635795 1.129635795 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 54528522 G A - - - - - - 51 0 0 61 5 8.2 52 6 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.720534823 4.32434803 5 2 1 2 0.279465177 0.67565197 5 3 2 2 0.720534823 0.32434803 0.714429165 0.714429165 1 1.276071953 1.276071953 1 NA NA 0 NA NA 0 4 NA 1 1 0.0000147 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 31973501 A T PDE1C CCDS5437.1 r.? - - intronic 51 0 0 119 0 0 53 4 7.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19837984 8.289880778 8 6 2 2 0.801620163 0.710119222 8 6 3 3 0.198379837 0.289880778 0 0 1 1.129635795 1.129635795 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 54364881 A C - - - - - - 53 0 0 62 3 4.8 57 4 7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0.431616766 0.431616766 1 0.894035088 0.894035088 1 NA NA 1 NA NA 0 4 NA 1 1 0.003793816 1 0.000199821 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 45540393 G A - - - - - - 43 0 0 96 0 0 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0 0 1 2.319518833 0.855873356 2.710119222 NA NA 1 NA NA 0 1 NA 1 1 1 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 56574394 C A PCDH15 ENST00000373957 r.? - - intronic 42 0 0 39 5 12.8 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0.805022494 0.805022494 1 1.389578947 1.389578947 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000156 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 56993099 A T - - - - - - 44 0 0 33 6 18.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.908546906 0.908546906 1 1.631912281 1.631912281 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 50200034 C G C7orf72 CCDS47585.1 r.? - - downstream 59 0 0 81 0 0 54 6 11.1 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0 0 1 1.671860977 1.671860977 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 50295274 C T - - - - - - 51 0 0 98 0 0 49 6 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 10.19154907 8.289880778 8 6 2 2 0.808450931 0.710119222 8 6 3 3 0.191549069 0.289880778 0 0 1 1.837540893 1.837540893 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 57587344 C T - - - - - - 55 0 0 49 0 0 36 7 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 7 6 5 4 2 2 1 1 NA NA NA NA NA NA 0 0 1 2.477754386 0.825918129 3 NA NA 1 NA NA 0 1 NA 1 1 1 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 59137298 G A - - - - - - 60 0 0 37 4 10.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.539137725 0.539137725 1 1.895754386 1.895754386 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000362 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 85049749 A C - - - - - - 67 0 0 50 0 0 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.798912281 1.798912281 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 87962794 C T - - - - - - 50 0 0 57 0 0 45 8 17.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.917403509 0.958701754 2 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 60966983 A G - - - - - - 61 0 0 35 6 17.1 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.853634731 0.853634731 1 1.026052632 1.026052632 1 NA NA 1 NA NA 1 4 NA 1 1 2.24E-08 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 88869140 G C ZNF804B CCDS5613.1 r.? - - intronic 70 0 0 45 0 0 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.077192982 1.077192982 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 93440550 C G GNGT1 ENST00000455502 r.? - - intronic 37 0 0 51 0 0 55 5 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000883 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 103886001 T A - - - - - - 40 0 0 67 0 0 46 4 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.937157895 0.937157895 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 61856319 A T CDH8 CCDS10802.1 r.? - - intronic 44 0 0 36 0 0 28 3 10.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.326618301 1.326618301 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 116274498 G C - - - - - - 50 0 0 50 0 0 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 63089481 T A - - - - - - 47 0 0 28 0 0 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.042614236 1.042614236 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 126807724 A C GRM8 CCDS5794.1 r.? - - intronic 46 0 0 66 0 0 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 20139306 C A LZTS1 CCDS6015.1 r.? - - intronic 45 0 0 32 0 0 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 NA 0 1.822226682 1.822226682 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 64583323 T A EGR2 CCDS7267.1 r.? - - upstream 55 0 0 52 0 0 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0 0 1 0.980245614 0.980245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 65389487 T A - - - - - - 51 0 0 59 0 0 23 3 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.221079735 1.221079735 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 152137710 A C BAGE3 CCDS5931.1 r.? - - upstream 32 0 0 31 14 45.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.804391218 0.902195609 2 1.368421053 1.368421053 1 NA NA 1 NA NA 1 4 NA 1 1 1.49E-24 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 65849564 C T - - - - - - 56 0 0 41 0 0 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.249258499 1.249258499 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 35577278 G T UNC5D CCDS6093.2 r.? - - intronic 59 0 0 27 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 1 2.620991218 1 2 0 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 NA 0 1.390152314 1.390152314 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 66878538 T A PCDH9 CCDS9444.1 r.4098a>u c.? p.? 3'UTR variant 48 0 0 40 0 0 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 58423068 C A - - - - - - 40 0 0 43 0 0 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 0.967470867 0.967470867 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 67369922 G A WDR78 CCDS635.1 r.? - - intronic 48 0 0 34 4 11.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0.589057884 0.589057884 1 2.436789474 0.812263158 3 NA NA 0 NA NA 1 4 NA 1 1 0.0000257 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 69025171 C T C3orf64 CCDS2908.1 r.3335g>a c.? p.? 3'UTR variant 50 0 0 32 0 0 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0 NA 0 1.624526316 1.624526316 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 60470248 C A - - - - - - 53 0 0 50 0 0 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.784654998 1.784654998 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 72678441 C T - - - - - - 21 0 0 26 0 0 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 2.085228471 2.085228471 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 69447969 C A - - - - - - 52 0 0 28 3 10.7 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.534145709 0.534145709 1 1.253777369 1.253777369 1 NA NA 1 NA NA 0 4 NA 1 1 0.000372895 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 90047847 C T - - - - - - 42 0 0 40 3 7.5 36 5 13.9 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.374401198 0.374401198 1 1.305616025 1.305616025 1 NA NA 1 NA NA 0 4 NA 1 1 0.001075403 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 69714172 T G - - - - - - 51 0 0 44 3 6.8 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.407457086 0.407457086 1 1.432666667 1.432666667 1 NA NA 1 NA NA 1 4 NA 1 1 0.00142027 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 81881191 C T PAG1 CCDS6227.1 r.9598g>a c.? p.? 3'UTR variant 43 0 0 36 0 0 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.653154103 1.653154103 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 70852781 G A - - - - - - 59 0 0 41 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 82586886 G T IMPA1 CCDS47883.1 r.? - - intronic 47 0 0 44 0 0 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 2.122800156 1.061400078 2 NA NA 1 NA NA 0 1 NA 1 1 1 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 71346631 T G RGAG4 ENST00000479991 r.? - - downstream 36 0 0 30 0 0 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.566189755 2 1 1 1 1 0.433810245 NA 2 NA 1 NA 0.566189755 0 0 1 1.120574349 1.120574349 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 71421945 G T - - - - - - 41 0 0 34 2 5.9 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.294528942 0.294528942 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 4 NA 1 1 0.012612579 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 89898865 G T - - - - - - 42 0 0 46 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 0.892327499 0.892327499 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 91090558 T A CALB1 CCDS6251.1 r.? - - intronic 46 0 0 45 0 0 46 5 10.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.023828394 1.023828394 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 93182406 C A - - - - - - 43 0 0 38 0 0 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.343187709 1.343187709 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 108101665 G C - - - - - - 51 0 0 43 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 1.465295683 1.465295683 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 72970018 C T EXOC6B CCDS46333.1 r.? - - intronic 39 0 0 58 8 13.8 47 5 10.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.826898204 0.826898204 1 1.141824561 1.141824561 1 NA NA 1 NA NA 1 4 NA 1 1 5.99E-10 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 112967347 C A - - - - - - 53 0 0 58 0 0 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.858200392 2.620991218 2 2 1 0 0.141799608 0.379008782 2 2 2 1 0.858200392 0.620991218 0 0 1 1.643761182 1.643761182 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 116659099 C G TRPS1 CCDS6318.2 r.? - - intronic 52 0 0 43 0 0 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 0.920506262 0.920506262 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 74497013 T G ANKRD31 CCDS47233.1 r.? - - intronic 51 0 0 37 0 0 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.926385965 0.926385965 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 74758851 A C - - - - - - 53 0 0 43 0 0 31 3 9.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.044877193 1.044877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 29525890 G C - - - - - - 26 0 0 30 0 0 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.072526316 1.072526316 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 76084321 G C - - - - - - 17 0 0 63 2 3.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6.377205361 6 3 4 3 2 0.622794639 1 4 NA 3 NA 0.377205361 NA 0.267815083 0.709998081 0.377205361 1.826385965 1.826385965 1 NA NA 0 NA NA 0 4 NA 1 1 0.03993132 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 36571428 C G MELK CCDS6606.1 r.? - - upstream 44 0 0 39 0 0 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.133128081 5 2 3 1 2 0.866871919 1 2 NA 2 NA 0.133128081 NA 0 NA 0 2.354385965 2.354385965 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 76471079 G A HNF4G CCDS6220.2 r.1024g>a c.900G>A p.R300R silent 44 0 0 39 3 7.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.38438523 0.38438523 1 1.615582419 1.615582419 1 NA NA 1 NA NA 0 4 NA 1 1 0.000998458 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 76532818 T C ROBO2 ENST00000487694 r.? - - intronic 48 0 0 43 3 7 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.374230414 1.056751621 0.354132803 1.553894737 1.553894737 1 NA NA 0 NA NA 1 4 NA 1 1 0.001328364 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 81149988 G T - - - - - - 51 0 0 25 0 0 31 5 16.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 1.734280702 1.734280702 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 86231717 T A - - - - - - 40 0 0 37 0 0 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 1.723508772 1.723508772 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 103631650 A T - - - - - - 59 0 0 37 0 0 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 2.283649123 1.141824561 2 NA NA 0 NA NA 1 NA NA 1 1 1 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 110811811 T G - - - - - - 44 0 0 31 0 0 34 6 17.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 1.895859649 1.895859649 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 121065468 C G - - - - - - 49 0 0 28 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 1.023333333 1.023333333 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 122114528 A C DBC1 CCDS6822.1 r.? - - intronic 61 0 0 33 0 0 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 1.163368421 1.163368421 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 125801212 G C RABGAP1 CCDS6848.2 r.? - - intronic 36 0 0 26 0 0 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 2.025122807 2.025122807 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 81394765 C A C4orf22 CCDS3587.1 r.? - - intronic 41 0 0 40 12 30 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 1.49760479 1.49760479 1 1.344630801 1.344630801 1 NA NA 1 NA NA 0 4 NA 1 1 1.20E-18 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 136808826 C T VAV2 CCDS48053.1 r.? - - intronic 9 0 0 28 0 0 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 0 0 1 2.3399287 2.3399287 1 NA NA 1 NA NA 0 4 NA 1 1 1 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 81645554 A C - - - - - - 52 0 0 49 0 0 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 44900044 G T - - - - - - 29 0 0 28 0 0 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0 0 1 2.337508772 1.168754386 2 NA NA 0 NA NA 1 1 NA 1 1 1 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 15329223 G T - - - - - - 34 0 0 39 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.446245614 1.446245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 82272311 G A - - - - - - 52 0 0 41 5 12.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.609025948 0.609025948 1 1.971519486 1.971519486 1 NA NA 1 NA NA 0 4 NA 1 1 0.00000202 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 59561195 T C - - - - - - 47 0 0 61 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.297222263 4 2 2 2 2 0.702777737 1 3 NA 2 NA 0.297222263 NA 0 0 1 1.389578947 1.389578947 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 83141379 T A - - - - - - 46 0 0 47 0 0 33 3 9.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.071245614 1.071245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 105532095 T A SH3PXD2A CCDS31278.1 r.? - - intronic 12 0 0 20 0 0 11 3 27.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 2.394736842 2.394736842 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00002 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 107987213 C T - - - - - - 56 0 0 48 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.122807018 1.122807018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 10 108308076 G C - - - - - - 47 0 0 47 0 0 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.403508772 1.403508772 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 12115801 T C - - - - - - 45 0 0 54 0 0 35 6 17.1 0 0 NA 2 0 0 0 0 NA 1 TRUE FALSE 4 3 2 2 2 1 1 1 NA NA NA NA NA NA 0 0 1 1.671 1.671 1 0 0 1 NA NA 0 1 NA 1 1 1 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 22197003 C T - - - - - - 37 0 0 31 0 0 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.397385965 1.397385965 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 27030881 G C - - - - - - 50 0 0 35 0 0 44 7 15.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.553736842 1.553736842 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 85629551 G T PDE8A CCDS10336.1 r.? - - intronic 42 0 0 43 0 0 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0 0 1 1.680946794 1.680946794 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 88144199 C G - - - - - - 44 0 0 40 0 0 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.673496181 2 2 1 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0 0 1 1.142896547 1.142896547 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 127554549 G C - - - - - - 41 0 0 56 0 0 44 5 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.228 1.228 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 87151853 A T - - - - - - 43 0 0 56 4 7.1 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 2.673496181 2 2 2 0 1 0.326503819 NA 2 NA 1 NA 0.673496181 0.425433134 0.425433134 1 0.925651749 0.925651749 1 NA NA 1 NA NA 0 4 NA 1 1 0.000186538 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 13677536 C T - - - - - - 39 0 0 35 0 0 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.749175439 1.749175439 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 19359110 C G PLEKHA5 CCDS44840.1 r.? - - intronic 40 0 0 46 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.250807018 1.250807018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 73484188 T A - - - - - - 53 0 0 46 0 0 29 3 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.006508772 1.006508772 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 86352321 G T - - - - - - 40 0 0 37 0 0 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.192175439 1.192175439 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 88047349 A T - - - - - - 60 0 0 54 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.114 1.114 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 91763105 G C - - - - - - 44 0 0 38 0 0 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0 0 1 1.631912281 1.631912281 1 NA NA 0 NA NA 1 1 NA 1 1 1 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 124408321 A G DNAH10 CCDS9255.2 r.11189a>g c.11164A>G p.R3722G missense 30 0 0 48 1 2.1 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 3 4 2 2 1 1 1 NA NA NA NA NA NA 0.167832335 0.167832335 1 2.296403509 2.296403509 1 NA NA 1 NA NA 0 4 NA 1 1 0.213845552 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 23087767 G A - - - - - - 51 0 0 32 0 0 38 5 13.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.157894737 1.157894737 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 91629419 C G PCDH11X CCDS14461.1 r.? - - intronic 22 0 0 24 10 41.7 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 1.44088429 3 1 2 0 1 0.55911571 1 1 NA 1 NA 0.44088429 NA 1.431519408 1.431519408 1 2.628649123 1.314324561 2 NA NA 0 NA NA 1 4 NA 1 1 1.80E-17 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 31962397 C A - - - - - - 47 0 0 40 0 0 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.061403509 1.061403509 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 49231309 C G - - - - - - 48 0 0 50 0 0 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.109508772 1.109508772 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 56029160 G A - - - - - - 49 0 0 50 0 0 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.701964912 1.701964912 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 5 94368185 C T MCTP1 CCDS47247.1 r.? - - intronic 46 0 0 32 4 12.5 35 5 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.749001996 0.749001996 1 1.540385965 1.540385965 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000201 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 94705266 T A - - - - - - 49 0 0 40 0 0 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.00877193 1.00877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 95691595 T A BMPR1B ENST00000515059 r.? - - intronic 53 0 0 43 3 7 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.349441118 0.349441118 1 1.762556591 1.762556591 1 NA NA 1 NA NA 0 4 NA 1 1 0.001328364 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 60152835 C A - - - - - - 51 0 0 55 0 0 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.497298246 1.497298246 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 97531679 A G - - - - - - 27 0 0 61 0 0 37 4 10.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.163368421 1.163368421 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 98332216 C G AC027708.1 ENST00000503768 r.? - - intronic 41 0 0 37 0 0 24 3 12.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0 0 1 1.258193708 1.258193708 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 86705300 C T - - - - - - 52 0 0 59 0 0 37 6 16.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.745052632 1.745052632 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 91627433 C G - - - - - - 53 0 0 55 0 0 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.131052632 1.131052632 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 99800955 A C ENSG00000104375 CCDS47900.1 r.? - - intronic 41 0 0 34 3 8.8 33 4 12.1 2 0 0 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.439297405 0.439297405 1 1.136543446 1.136543446 1 NA NA 1 NA NA 0 4 NA 1 1 0.000666058 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 27060183 A T ENSG00000248163 CCDS32061.1 r.? - - intronic 53 0 0 28 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.131578947 1.131578947 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 44389079 C T - - - - - - 47 0 0 32 1 3.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.123752495 0.123752495 1 1.824561404 1.824561404 1 NA NA 1 NA NA 1 4 NA 1 1 0.14819814 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 52001396 C A FRMD6 CCDS9704.1 r.? - - intronic 58 0 0 36 0 0 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.859649123 0.859649123 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 101970544 C G PCSK6 ENST00000348070 r.? - - intronic 35 0 0 30 3 10 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0.499201597 0.499201597 1 1.157538212 1.157538212 1 NA NA 0 NA NA 1 4 NA 1 1 0.000458697 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 102374529 A G - - - - - - 53 0 0 49 0 0 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0 0 1 0.869701754 0.869701754 1 NA NA 0 NA NA 0 1 NA 1 1 1 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 102874610 T G - - - - - - 41 0 0 33 2 6.1 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.326115075 0.326115075 1 1.965912281 1.965912281 1 NA NA 0 NA NA 1 4 NA 1 1 0.011909843 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 95774001 G C CLMN CCDS9933.1 r.? - - intronic 25 0 0 34 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 0 0 1 1.524421053 1.524421053 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 99322179 C T - - - - - - 33 0 0 20 0 0 33 5 15.2 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3.149838816 5.306384543 3 5 0 0 0.850161184 0.693615457 3 5 1 1 0.149838816 0.306384543 0 NA 0 1.835903784 1.835903784 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 22457024 G A - - - - - - 52 0 0 52 0 0 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 6.403731855 5 4 4 2 1 0.596268145 1 5 NA 2 NA 0.403731855 NA 0 NA 0 1.648070175 1.648070175 1 NA NA 1 NA NA 0 NA NA 1 1 1 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 104415623 A T GRIN3A CCDS6758.1 r.? - - intronic 57 0 0 37 0 0 36 3 8.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0 NA 0 0.894070175 0.894070175 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 39163716 G A - - - - - - 41 0 0 27 0 0 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.598654474 2 1 1 1 1 0.401345526 NA 2 NA 1 NA 0.598654474 0 0 1 2.20208731 2.20208731 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 62029858 C T - - - - - - 63 0 0 53 0 0 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0 NA 0 1.338718106 1.338718106 1 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 71326815 G T LRRC49 CCDS32282.1 r.? - - intronic 53 0 0 38 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0 0 1 1.147472662 1.147472662 1 NA NA 0 NA NA 1 1 NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 72996220 C G BBS4 CCDS10246.1 r.? - - intronic 45 0 0 34 0 0 46 4 8.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0 0 1 0.875702821 0.875702821 1 NA NA 0 NA NA 1 1 NA 1 1 1 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 15 94293889 C T - - - - - - 43 0 0 51 0 0 31 6 19.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 3.293619843 2 2 1 1 1 0.706380157 NA 3 NA 1 NA 0.293619843 0 0 1 1.952716635 1.952716635 1 NA NA 0 NA NA 1 1 NA 1 1 1 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 10455948 C G - - - - - - 27 0 0 41 0 0 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.958931697 1.958931697 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 107258402 C G - - - - - - 56 0 0 57 0 0 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.292631579 1.292631579 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 107307270 G A - - - - - - 16 0 0 53 0 0 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0 0 1 1.253777369 1.253777369 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 107581938 T C OXR1 CCDS47909.1 r.? - - intronic 52 0 0 48 0 0 43 4 9.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0 0 1 0.873541657 0.873541657 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 107697802 G T - - - - - - 50 0 0 47 8 17 39 4 10.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.313413428 2 1 1 1 1 0.686586572 NA 2 NA 1 NA 0.313413428 0.848642715 0.848642715 1 0.935790355 0.935790355 1 NA NA 1 NA NA 0 4 NA 1 1 1.03E-10 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 14667731 C G PARN CCDS45419.1 r.? - - intronic 41 0 0 42 0 0 53 5 9.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0 NA 0 1.165440377 1.165440377 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.00000734 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 19420985 C T TMC5 CCDS45431.1 r.? - - upstream 13 0 0 32 0 0 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0 NA 0 2.070516414 2.070516414 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 92204311 T C GPC5 CCDS9468.1 r.? - - intronic 49 0 0 48 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.023333333 1.023333333 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 21685440 C A OTOA CCDS10600.2 r.? - - upstream 26 0 0 45 0 0 53 5 9.4 0 0 NA 0 0 NA 2 0 0 1 FALSE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0 NA 0 1.165440377 1.165440377 1 NA NA 0 0 NA 0 NA NA 1 1 1 1 0.00000734 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 108715991 C G LACE1 CCDS5067.1 r.? - - intronic 40 0 0 27 0 0 27 3 11.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.973684211 0.973684211 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 12 109855780 C T - - - - - - 16 0 0 42 0 0 19 4 21.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.357713288 3 2 2 1 1 0.642286712 1 3 NA 1 NA 0.357713288 NA 0 0 1 2.061877193 2.061877193 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 13 110730075 A C - - - - - - 46 0 0 59 0 0 35 3 8.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.926385965 0.926385965 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 24281289 G A CACNG3 CCDS10620.1 r.? - - intronic 32 0 0 34 1 2.9 37 7 18.9 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0.188260485 NA 0 2.343279055 0.987214134 2.373627945 NA NA 0 NA NA 1 NA NA 1 1 0.156694864 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 110896696 A T PVRL3 ENST00000493615 r.? - - intronic 51 0 0 39 2 5.1 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.354132803 5 2 3 1 2 0.645867197 1 2 NA 2 NA 0.354132803 NA 0.272653587 0.769919038 0.354132803 1.342 1.342 1 NA NA 0 NA NA 1 4 NA 1 1 0.016387522 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 111513922 A G - - - - - - 66 0 0 39 0 0 38 4 10.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5 2 3 1 2 1 1 NA NA NA NA NA NA 0 NA 0 1.236052632 1.236052632 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 53382758 T C FERMT2 CCDS45107.1 r.? - - intronic 41 0 0 30 3 10 28 5 17.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.399201597 0.399201597 1 1.570175439 1.570175439 1 NA NA 1 NA NA 1 4 NA 1 1 0.000458697 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 2 113128269 C T RGPD8 CCDS46394.1 r.? - - intronic 12 1 8.3 15 3 20 13 5 38.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.128496294 4 2 2 2 2 0.871503706 1 3 NA 2 NA 0.128496294 NA 1.224102452 1.224102452 1 4.147192982 2.073596491 2 NA NA 1 NA NA 1 4 NA 0.058377193 1 0.0000544 1 3.89E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 113740506 C T CSMD3 CCDS6315.1 r.? - - intronic 42 0 0 32 4 12.5 43 14 32.6 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.624001996 0.624001996 1 3.06209226 1.53104613 2 NA NA 1 NA NA 0 4 NA 1 1 0.0000201 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 14 91734801 G A CCDC88C CCDS45151.1 r.? - - downstream 50 0 0 40 12 30 30 8 26.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.149838816 3 3 3 0 0 0.850161184 1 3 NA 1 NA 0.149838816 NA 1.542556435 1.542556435 1 2.609105263 0.869701754 3 NA NA 0 NA NA 1 4 NA 1 1 1.20E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 27661160 G T KIAA0556 CCDS32415.1 r.? - - intronic 38 0 0 39 0 0 34 5 14.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.499724906 5.626372055 2 3 2 2 0.500275094 0.373627945 3 3 2 3 0.499724906 0.626372055 0 NA 0 1.822550376 1.822550376 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 61542198 G T - - - - - - 36 0 0 37 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.177838679 1.177838679 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 63548626 T G - - - - - - 51 0 0 57 0 0 44 4 9.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.128245471 1.128245471 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 72923638 G A ZFHX3 CCDS10908.1 r.4113c>u c.3440C>T p.T1147M missense 23 0 0 46 0 0 37 5 13.5 0 0 NA 1 0 0 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.673770754 1.673770754 1 0 NA 0 NA NA 1 NA NA 1 1 1 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 76006199 T A - - - - - - 42 0 0 48 0 0 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.64897415 1.64897415 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 76939904 G C - - - - - - 62 0 0 60 0 0 40 4 10 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0 NA 0 1.239830188 1.239830188 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 119979945 T A SYNPO2 CCDS34054.1 r.4838u>a c.? p.? 3'UTR variant 39 0 0 42 5 11.9 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.792797466 3.272960587 2 2 1 1 0.207202534 0.727039413 3 3 1 1 0.792797466 0.272960587 0.688392799 0.688392799 1 1.195341959 1.195341959 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000228 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 997602 A T ABR CCDS10999.1 r.? - - intronic 21 0 0 26 0 0 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0 NA 0 1.483357898 1.483357898 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 121721647 G A - - - - - - 46 0 0 32 5 15.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 4 1 3 1 1 1 1 NA NA NA NA NA NA 0.622754491 0.622754491 1 2.606807018 0.868935673 3 NA NA 0 NA NA 1 4 NA 1 1 0.000000562 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 16 3946436 G A - - - - - - 29 0 0 48 4 8.3 50 9 18 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 5.626372055 2 3 2 2 1 0.373627945 NA 3 NA 3 NA 0.626372055 0.497337325 0.497337325 1 2.231694338 0.940203937 2.373627945 NA NA 0 NA NA 1 4 NA 1 1 0.000102016 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 5847036 G C - - - - - - 45 0 0 24 0 0 29 4 13.8 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0 NA 0 1.431492237 1.431492237 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 7 123042709 C G - - - - - - 50 0 0 35 3 8.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.515313373 0.515313373 1 2.025122807 2.025122807 1 NA NA 1 NA NA 1 4 NA 1 1 0.000725791 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 20628165 A G - - - - - - 44 0 0 34 0 0 36 4 11.1 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 2 3.601202326 2 3 0 0 1 0.398797674 NA 3 NA 1 NA 0.601202326 0 NA 0 1.151417669 1.151417669 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 43123256 C T DCAKD CCDS11493.1 r.? - - intronic 27 0 0 25 0 0 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.464912281 1.464912281 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 58208515 G A - - - - - - 42 0 0 26 0 0 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.99122807 1.99122807 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 17 72232094 A T TTYH2 CCDS32717.1 r.? - - intronic 28 0 0 30 0 0 34 7 20.6 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 5.714370929 6.213584959 5 5 0 1 0.285629071 0.786415041 5 5 1 2 0.714370929 0.213584959 0 NA 0 2.675016045 0.960020674 2.786415041 NA NA 0 NA NA 1 NA NA 1 1 1 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 8257049 G A PTPRM CCDS11840.1 r.? - - intronic 59 0 0 31 0 0 33 5 15.2 2 0 0 0 0 NA 0 0 NA 1 FALSE FALSE 2 3 2 3 0 0 1 1 NA NA NA NA NA NA 0 NA 0 1.485333333 1.485333333 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 8 129548302 T C - - - - - - 53 0 0 37 2 5.4 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.620991218 2 2 1 0 1 0.379008782 NA 2 NA 1 NA 0.620991218 0.269568862 0.269568862 1 1.136543446 1.136543446 1 NA NA 1 NA NA 0 4 NA 1 1 0.014826063 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 24784322 T A - - - - - - 50 0 0 36 0 0 25 4 16 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.403508772 1.403508772 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 11 130159807 C G ZBTB44 CCDS44776.1 r.? - - intronic 39 0 0 51 5 9.8 50 6 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.587217565 0.587217565 1 1.292631579 1.292631579 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000606 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 40007732 A C - - - - - - 51 0 0 31 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1 1 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 6 130484308 G C SAMD3 CCDS34539.1 r.? - - intronic 63 0 0 24 5 20.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.830339321 0.830339321 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000123 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 4 132293812 T A - - - - - - 53 0 0 47 0 0 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3 2.277661109 2 1 1 1 1 0.722338891 NA 2 NA 1 NA 0.277661109 0 0 1 1.085950912 1.085950912 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 46836777 T A DYM CCDS11937.1 r.? - - intronic 46 0 0 22 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.298245614 1.298245614 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 18 50381896 G T DCC CCDS11952.1 r.? - 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- - - - - 62 0 0 44 0 0 30 5 16.7 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 3 5.384331439 2 3 1 2 1 0.615668561 NA 4 NA 2 NA 0.384331439 0 NA 0 2.030095631 2.030095631 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 42058743 A T CEACAM21 ENST00000407170 r.? - - intronic 45 0 0 44 0 0 23 4 17.4 0 0 NA 0 0 NA 0 0 NA 1 FALSE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 0 NA 0 2.222315789 2.222315789 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 11256548 C A - - - - - - 44 0 0 25 0 0 28 4 14.3 0 0 NA 2 0 0 0 0 NA 1 FALSE FALSE 3 4.362325493 2 2 1 2 1 0.637674507 NA 3 NA 2 NA 0.362325493 0 NA 0 1.59219851 1.59219851 1 0 NA 0 NA NA 1 NA NA 1 1 1 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 9 138249861 G C - - - - - - 29 0 0 33 3 9.1 18 3 16.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 8 6.675936267 5 3 3 3 1 0.324063733 NA 4 NA 3 NA 0.675936267 0.909273453 0.909273453 1 2.245793637 2.245793637 1 NA NA 1 NA NA 0 4 NA 1 1 0.000609557 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 12673991 G T - 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- intronic 44 0 0 39 3 7.7 30 4 13.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 3.351371459 5 2 3 1 2 0.648628541 1 2 NA 2 NA 0.351371459 NA 0.411440832 0.411440832 1 1.565666667 1.565666667 1 NA NA 0 NA NA 1 4 NA 1 1 0.000998458 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 20 58089086 T A - - - - - - 44 0 0 61 1 1.6 54 7 13 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 6 5 3 3 3 2 1 1 NA NA NA NA NA NA 0.127872255 0.127872255 1 1.530350877 1.530350877 1 NA NA 1 NA NA 0 4 NA 1 1 0.263440347 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 19 43489036 C G PSG1 ENST00000449000 r.? - - intronic 33 0 0 37 11 29.7 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.7646161 6 2 3 2 3 0.2353839 1 3 NA 2 NA 0.7646161 NA 2.006719724 1.003359862 2 2.771508772 0.923836257 3 NA NA 0 NA NA 1 4 NA 1 1 3.70E-17 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b X 150594905 C T - - - - - - 71 0 0 91 5 5.5 49 7 14.3 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0.351687233 0.874197223 0.402297358 1.483689283 1.483689283 1 NA NA 1 NA NA 0 4 NA 1 1 0.000101674 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 3 151981039 A C MBNL1 CCDS3165.1 r.? - 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- - - - - 67 0 0 70 0 0 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4.402297358 3.60351971 4 3 0 0 0.597702642 0.39648029 5 4 0 0 0.402297358 0.60351971 0 0 1 1.639321027 1.639321027 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9852b 1 244378482 G C - - - - - - 29 0 0 47 0 0 26 3 11.5 0 0 NA 0 0 NA 0 0 NA 1 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 1.23877193 1.23877193 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA NA NA NA NA NA NA NO inad_validation_depth inad_validation_depth NA NA