VariantID mutpos AnalysisProc Sample Normal Chrom Pos Ref Alt Qual Filter Gene Type Effect LEN REP knockout clonelevel mutpos_knockout size sizegroup MHcount Microhomology Repcount Repeat indeltype 000fb58c-3320-11e6-be72-aff7191589db 14_47821961_CTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 14 47821961 CT C 960 PASS MDGA2 Del intronic 1 8 CHK2 parent 14_47821961_CTC_CHK2 1 1 1 T 7 T Repeat-mediated 0018495c-3287-11e6-b32c-fd87a2c71c31 5_80229066_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 80229066 TC T 480 PASS - Del - 1 7 MSH6 child 5_80229066_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 0019d85a-3271-11e6-b799-add079852e0e 11_18531703_CACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGACTGCTTGAAGCCAGGAGTTTGAGACCAGCTGGGCCAACATGGCAAAATCCCATCTCTACTAAAAACACAAAAATTAGCCGGGTGTGGTGATGTGCGTCTATGGTCCCAGTTACTCAGGAGGCTGAGGCAAGAGAATTGCTTAAACCCCAGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCATCCTAGGCGACAGAGCAAGACTCTGTCTCAAAACAAACAAACAAAAAAATTATACGTAGATTCTAGCTTAGAAATTGCTAGATTGTAGTACAAAGGGGTGAATTGTTAAAGGATCTTTCCTTCCAACAATGACAAAGAGATTCCTATTTTTTCATAAGTTACTAAGATTTTCTCTCAAATACCTATTGAGCACTGGCCAGGGGTGGTGGCTTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 11 18531703 CACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGACTGCTTGAAGCCAGGAGTTTGAGACCAGCTGGGCCAACATGGCAAAATCCCATCTCTACTAAAAACACAAAAATTAGCCGGGTGTGGTGATGTGCGTCTATGGTCCCAGTTACTCAGGAGGCTGAGGCAAGAGAATTGCTTAAACCCCAGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCATCCTAGGCGACAGAGCAAGACTCTGTCTCAAAACAAACAAACAAAAAAATTATACGTAGATTCTAGCTTAGAAATTGCTAGATTGTAGTACAAAGGGGTGAATTGTTAAAGGATCTTTCCTTCCAACAATGACAAAGAGATTCCTATTTTTTCATAAGTTACTAAGATTTTCTCTCAAATACCTATTGAGCACTGGCCAGGGGTGGTGGCTT C 300 PASS TSG101 Del intronic 447 1 FANCC child 11_18531703_CACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGACTGCTTGAAGCCAGGAGTTTGAGACCAGCTGGGCCAACATGGCAAAATCCCATCTCTACTAAAAACACAAAAATTAGCCGGGTGTGGTGATGTGCGTCTATGGTCCCAGTTACTCAGGAGGCTGAGGCAAGAGAATTGCTTAAACCCCAGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCATCCTAGGCGACAGAGCAAGACTCTGTCTCAAAACAAACAAACAAAAAAATTATACGTAGATTCTAGCTTAGAAATTGCTAGATTGTAGTACAAAGGGGTGAATTGTTAAAGGATCTTTCCTTCCAACAATGACAAAGAGATTCCTATTTTTTCATAAGTTACTAAGATTTTCTCTCAAATACCTATTGAGCACTGGCCAGGGGTGGTGGCTTC_FANCC 447 >=10 34 ACACCTGTAATCCCAGCACTTTGGGAGGCCAAGG 0 - Microhomology-mediated 001f3300-3275-11e6-82d8-a30207e9a829 5_119582042_GAG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 5 119582042 GA G 420 PASS CTC-552D5.1 Del intronic 1 9 POLB child 5_119582042_GAG_POLB 1 1 1 A 8 A Repeat-mediated 0024b3e6-3277-11e6-8c34-46e27872c165 5_115157821_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 115157821 GA G 540 PASS - Del - 1 8 MSH6 child 5_115157821_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 00330378-3291-11e6-b81f-4ee66f39e758 8_87624415_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 87624415 GA G 600 PASS CNGB3 Del intronic 1 9 MSH6 child 8_87624415_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 00416304-3292-11e6-919e-92c36f39e758 2_197023749_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 197023749 C CA 300 PASS STK17B Ins intronic 1 6 MSH6 child 2_197023749_CCA_MSH6 1 1 - - - - Ins 00545b9a-3273-11e6-bfb2-2749c225ee11 12_47586144_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 47586144 GA G 360 PASS PCED1B Del intronic 1 8 MSH6 child 12_47586144_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 005ce68a-3295-11e6-8c3d-0ab4e7d0bdd7 3_170127066_CCT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 170127066 C CT 540 PASS RP11-469J4.3 Ins upstream 1 8 FANCC child 3_170127066_CCT_FANCC 1 1 - - - - Ins 005ec460-3271-11e6-b923-6726694da5d2 5_111944387_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 111944387 TA T 480 PASS - Del - 1 8 MSH6 child 5_111944387_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 007a30cc-326e-11e6-b306-b5204b47a305 2_122602359_ATCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 122602359 ATC A 300 PASS - Del - 2 7 MSH6 child 2_122602359_ATCA_MSH6 2 2 2 TC 6 TC Repeat-mediated 008643c6-3287-11e6-a031-e026038949d4 20_15705747_CAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 20 15705747 CA C 300 PASS MACROD2 Del intronic 1 9 POLM child 20_15705747_CAC_POLM 1 1 1 A 8 A Repeat-mediated 009191f0-3259-11e6-a39a-dc8512ae24cf 8_85159086_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 85159086 CA C 780 PASS RALYL Del intronic 1 9 MSH6 child 8_85159086_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0092a9f6-328a-11e6-a100-84090e01a414 18_50706029_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 50706029 GT G 360 PASS DCC Del intronic 1 9 MSH6 child 18_50706029_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 00935dac-328e-11e6-bb1e-70e16f39e758 X_13719296_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 13719296 CA C 660 PASS RAB9A Del intronic 1 7 MSH6 child X_13719296_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 00950d46-327a-11e6-ab1d-16d9ecf1e924 20_9210591_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 9210591 CT C 540 PASS PLCB4 Del intronic 1 9 MSH6 child 20_9210591_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 009612e6-3288-11e6-9546-b5936f39e758 15_82050268_AAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 82050268 A AT 300 PASS RP11-499F3.2 Ins intronic 1 6 EXO1 child 15_82050268_AAT_EXO1 1 1 - - - - Ins 00a1bf80-3290-11e6-9401-04ed6f39e758 3_1894284_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 1894284 CT C 480 PASS - Del - 1 8 MSH6 child 3_1894284_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 00a49c9e-3292-11e6-88f7-6a5e38e8a824 X_121652623_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA X 121652623 GA G 360 PASS - Del - 1 1 FANCC child X_121652623_GAG_FANCC 1 1 0 - 0 A None 00a85288-3276-11e6-bfb2-2749c225ee11 12_111249139_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 111249139 C CA 360 PASS - Ins - 1 7 MSH6 child 12_111249139_CCA_MSH6 1 1 - - - - Ins 00c0db18-3321-11e6-8250-3bb0cde16804 15_64893242_CTGC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 15 64893242 CTG C 420 PASS ZNF609 Del intronic 2 2 CHK2 child 15_64893242_CTGC_CHK2 2 2 2 TG 1 TG Repeat-mediated 00c538f8-329e-11e6-a5cf-e5abcc638e3d 9_130157376_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 130157376 GA G 780 PASS GARNL3 Del downstream 1 7 MSH6 child 9_130157376_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 00cab29a-3287-11e6-a284-4b89a2c71c31 4_41283811_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 41283811 AT A 420 PASS - Del - 1 6 MSH6 child 4_41283811_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 00ce7f6c-328f-11e6-b10a-17a5e7d0bdd7 1_109715562_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 1 109715562 CA C 420 PASS KIAA1324 Del intronic 1 7 FANCC child 1_109715562_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 00d4a8d6-3282-11e6-9436-c28569062303 11_71987248_GAG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 11 71987248 GA G 1020 PASS - Del - 1 6 POLE parent 11_71987248_GAG_POLE 1 1 1 A 5 A Repeat-mediated 00d6b738-3288-11e6-8404-8e1fbce6aa09 8_77472685_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 77472685 GA G 420 PASS - Del - 1 9 MSH6 child 8_77472685_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 00d75f52-3257-11e6-a304-347a7872c165 1_240036645_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 240036645 CT C 360 PASS CHRM3 Del intronic 1 9 MSH6 child 1_240036645_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 00da306c-3273-11e6-aa3b-ca60a178171f 13_57884086_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 57884086 GT G 360 PASS - Del - 1 4 MSH6 child 13_57884086_GTG_MSH6 1 1 1 T 3 T Repeat-mediated 00e1ef6e-3291-11e6-b81f-4ee66f39e758 8_87812236_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 87812236 GA G 420 PASS RP11-386D6.2 Del intronic 1 7 MSH6 child 8_87812236_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 00e768a2-328e-11e6-919e-92c36f39e758 2_170757823_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 170757823 AT A 660 PASS UBR3 Del intronic 1 9 MSH6 child 2_170757823_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 00f03f08-328a-11e6-a70a-47793adbad45 3_27582982_CACTTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 27582982 CACTT C 1320 PASS - Del - 4 1 NUDT1 parent 3_27582982_CACTTC_NUDT1 4 4 0 - 0 - None 00f32d44-3276-11e6-82ea-418d12ae24cf 7_5438906_CCTGCGGTATGGGGGTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 7 5438906 CCTGCGGTATGGGGGT C 420 PASS TNRC18 Del intronic 15 1 EXO1 child 7_5438906_CCTGCGGTATGGGGGTC_EXO1 15 >=10 2 CT 0 - Microhomology-mediated 00f46740-3271-11e6-9d68-ac9acab49462 15_84187253_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 84187253 A AT 300 PASS SH3GL3 Ins intronic 1 7 MSH6 child 15_84187253_AAT_MSH6 1 1 - - - - Ins 00f50780-3286-11e6-afcf-0311bce6aa09 9_17392054_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 17392054 AG A 660 PASS CNTLN Del intronic 1 1 MSH6 child 9_17392054_AGA_MSH6 1 1 0 - 0 G None 010015c4-32a1-11e6-a04f-c66a25c9da85 6_110502083_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 110502083 TG T 660 PASS CDC40 Del intronic 1 1 MSH6 child 6_110502083_TGT_MSH6 1 1 0 - 0 G None 01045f2e-3258-11e6-9d15-298312ae24cf X_89772296_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 89772296 TA T 479 PASS - Del - 1 7 MSH6 child X_89772296_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 01065d52-3257-11e6-a304-347a7872c165 1_240083143_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 240083143 CA C 480 PASS CHRM3 Del downstream 1 9 MSH6 child 1_240083143_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 010901b8-3272-11e6-acc7-e55219a91649 1_241222681_GGTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 241222681 G GTA 780 PASS RGS7 Ins intronic 2 3 MSH6 child 1_241222681_GGTA_MSH6 2 2 - - - - Ins 010fd9e8-328b-11e6-a42b-8cc430158702 18_61557444_TAT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 18 61557444 TA T 360 PASS SERPINB2 Del intronic 1 9 POLM child 18_61557444_TAT_POLM 1 1 1 A 8 A Repeat-mediated 0121ca8c-328a-11e6-821d-8c090e01a414 13_61574009_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 61574009 CT C 600 PASS - Del - 1 6 MSH6 child 13_61574009_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 0123c532-329c-11e6-bda6-065325c9da85 13_53733262_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 53733262 A AT 540 PASS - Ins - 1 1 MSH6 child 13_53733262_AAT_MSH6 1 1 - - - - Ins 01248492-3286-11e6-afcf-0311bce6aa09 9_17495043_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 17495043 AT A 540 PASS CNTLN Del intronic 1 8 MSH6 child 9_17495043_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 0127d33a-3291-11e6-bb1e-70e16f39e758 X_68375274_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 68375274 C CT 900 PASS - Ins - 1 1 MSH6 child X_68375274_CCT_MSH6 1 1 - - - - Ins 01291616-329e-11e6-bc2c-2a5e25c9da85 4_70567116_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 70567116 TA T 600 PASS - Del - 1 7 MSH6 child 4_70567116_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 012f5330-326e-11e6-b2ac-b6204b47a305 17_658121_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 658121 G GT 300 PASS GEMIN4 Ins upstream 1 3 MSH6 child 17_658121_GGT_MSH6 1 1 - - - - Ins 01336d74-3257-11e6-91d3-a68412ae24cf 7_35722671_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 35722671 GA G 360 PASS HERPUD2 Del intronic 1 9 MSH6 child 7_35722671_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 013642f2-3288-11e6-a8ac-a28ea2c71c31 3_37717144_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 37717144 CT C 780 PASS ITGA9 Del intronic 1 9 MSH6 child 3_37717144_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 013b881e-3271-11e6-b923-6726694da5d2 5_112126003_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 112126003 GT G 300 PASS APC Del intronic 1 8 MSH6 child 5_112126003_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 01454e0e-3289-11e6-bae2-7096cdacbbbf 18_6769579_ATTCACGAGGAAAGCGAGACTTGGAAAGATTAAGAAATTTGCTCAAGATCATGCACCTATGTTGTGCCAAAGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 18 6769579 ATTCACGAGGAAAGCGAGACTTGGAAAGATTAAGAAATTTGCTCAAGATCATGCACCTATGTTGTGCCAAAG A 420 PASS ARHGAP28 Del intronic 71 1 FANCC child 18_6769579_ATTCACGAGGAAAGCGAGACTTGGAAAGATTAAGAAATTTGCTCAAGATCATGCACCTATGTTGTGCCAAAGA_FANCC 71 >=10 0 - 0 - None 014c1362-3291-11e6-8621-65d8191589db 4_184390099_TTTTTA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 184390099 T TTTTA 300 PASS - Ins - 4 0 FANCC child 4_184390099_TTTTTA_FANCC 4 4 - - - - Ins 014ea10a-3277-11e6-9608-84e46de4ab00 7_91204291_TATCT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 91204291 TATC T 900 PASS - Del - 3 1 EXO1 child 7_91204291_TATCT_EXO1 3 3 2 AT 0 - Microhomology-mediated 014f2e12-328c-11e6-88c1-95c36f39e758 14_49991216_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 49991216 AT A 300 PASS - Del - 1 9 MSH6 child 14_49991216_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 01594d10-328d-11e6-bd1b-5fcc977b3f23 11_106504596_GAG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 11 106504596 GA G 420 PASS - Del - 1 9 NEIL1 child 11_106504596_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 017152e2-328e-11e6-b6a6-1f1e0e01a414 4_95111906_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 95111906 TA T 300 PASS RP11-363G15.2 Del intronic 1 6 MSH6 child 4_95111906_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 01762346-3291-11e6-b81f-4ee66f39e758 8_88027141_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 88027141 AT A 480 PASS CNBD1 Del intronic 1 5 MSH6 child 8_88027141_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 017675e0-326d-11e6-adc2-b7204b47a305 18_34058479_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 34058479 AT A 660 PASS FHOD3 Del intronic 1 8 MSH6 child 18_34058479_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 0189b592-328b-11e6-9c89-8d090e01a414 1_97063426_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 97063426 GT G 480 PASS - Del - 1 8 MSH6 child 1_97063426_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 0189ba94-3284-11e6-9f05-70ef1da8ec0e 10_22319469_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 22319469 TA T 660 PASS - Del - 1 5 EXO1 child 10_22319469_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 018a6342-327d-11e6-89b2-838790e2c2e6 22_35029674_GCG . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 22 35029674 GC G 882 PASS - Del - 1 3 FANCC parent 22_35029674_GCG_FANCC 1 1 1 C 2 C Repeat-mediated 019d9178-3274-11e6-8bd4-92b28a20d9eb 9_76030696_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 9 76030696 TA T 900 PASS - Del - 1 9 NEIL1 child 9_76030696_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 01ac3668-328a-11e6-8459-82090e01a414 12_45672332_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 45672332 CT C 360 PASS ANO6 Del intronic 1 8 MSH6 child 12_45672332_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 01ad8ba8-3271-11e6-b5b8-e0c24a47a305 X_105777712_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 105777712 CT C 360 PASS - Del - 1 8 MSH6 child X_105777712_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 01ae336a-3257-11e6-acc5-308412ae24cf 5_44897407_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 44897407 GA G 480 PASS - Del - 1 8 MSH6 child 5_44897407_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 01ae554a-3273-11e6-b8ae-92c57872c165 14_59393731_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 59393731 CA C 300 PASS RP11-112J1.2 Del intronic 1 8 MSH6 child 14_59393731_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 01c1fb3a-3274-11e6-aa3b-ca60a178171f 13_25969455_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 25969455 C CT 600 PASS ATP8A2 Ins intronic 1 5 MSH6 child 13_25969455_CCT_MSH6 1 1 - - - - Ins 01c8bd7c-3273-11e6-b332-88ba7d6a9fc7 15_50958999_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 50958999 CA C 720 PASS TRPM7 Del intronic 1 9 MSH6 child 15_50958999_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 01cb0316-3291-11e6-9d97-efe56f39e758 4_161350992_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 161350992 GT G 300 PASS - Del - 1 9 MSH6 child 4_161350992_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 01deffe4-328f-11e6-b81f-4ee66f39e758 8_17847974_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 17847974 GT G 300 PASS PCM1 Del intronic 1 9 MSH6 child 8_17847974_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 01e064c0-3293-11e6-984b-997830158702 1_177020095_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 1 177020095 GA G 720 PASS ASTN1 Del intronic 1 8 NUDT1 child 1_177020095_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated 01e2d038-328a-11e6-a7cf-80090e01a414 15_55447574_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 55447574 CT C 360 PASS - Del - 1 6 MSH6 child 15_55447574_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 01ea2514-3257-11e6-acc5-308412ae24cf 5_45171352_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 45171352 CA C 360 PASS - Del - 1 9 MSH6 child 5_45171352_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 01ea41cc-326e-11e6-b306-b5204b47a305 2_123160115_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 123160115 TA T 420 PASS - Del - 1 8 MSH6 child 2_123160115_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 01ed6286-3321-11e6-a903-ae0342c4520d 13_45403023_TGAGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 13 45403023 TGAG T 300 PASS - Del - 3 2 EXO1 child 13_45403023_TGAGT_EXO1 3 3 3 GAG 1 GAG Repeat-mediated 01f1b140-3274-11e6-ace0-120b4ec77248 17_40457056_CAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 17 40457056 CA C 360 PASS STAT5A Del intronic 1 8 EXO1 child 17_40457056_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 01f8bc6c-3321-11e6-98d8-e3f9cf737e61 17_19255535_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 17 19255535 TA T 360 PASS B9D1 Del intronic 1 5 EXO1 child 17_19255535_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 020284d4-3323-11e6-917a-b666694da5d2 11_98780357_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 11 98780357 CA C 540 PASS - Del - 1 9 EXO1 child 11_98780357_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 02051c9a-326e-11e6-9003-ae204b47a305 19_1709710_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 1709710 C CT 480 PASS - Ins - 1 5 MSH6 child 19_1709710_CCT_MSH6 1 1 - - - - Ins 020a2604-3287-11e6-a284-4b89a2c71c31 4_41629492_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 41629492 GA G 840 PASS LIMCH1 Del intronic 1 9 MSH6 child 4_41629492_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 020f9338-3290-11e6-bb1e-70e16f39e758 X_136783780_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 136783780 GT G 300 PASS - Del - 1 7 MSH6 child X_136783780_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 02158fc6-329b-11e6-8848-de28c7271a47 8_124243573_TGAGTCTCTATCT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 8 124243573 TGAGTCTCTATC T 480 PASS C8orf76 Del frameshift 11 1 CHK2 child 8_124243573_TGAGTCTCTATCT_CHK2 11 >=10 0 - 0 - None 0216d9a4-3286-11e6-9e1f-6479a178171f 16_19211958_TTCTAGGTGATAGAGAAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 16 19211958 TTCTAGGTGATAGAGAA T 360 PASS SYT17 Del intronic 16 1 FANCC child 16_19211958_TTCTAGGTGATAGAGAAT_FANCC 16 >=10 2 TC 0 - Microhomology-mediated 0219b9ae-3285-11e6-90da-f3a469062303 6_45217264_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 45217264 GA G 360 PASS SUPT3H Del intronic 1 3 FANCC child 6_45217264_GAG_FANCC 1 1 1 A 2 A Repeat-mediated 021a3414-3281-11e6-9ec5-888f1ac527ab 13_79614341_AGATGACACTGAGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 13 79614341 AGATGACACTGAG A 360 PASS - Del - 12 1 FANCC child 13_79614341_AGATGACACTGAGA_FANCC 12 >=10 4 GATG 0 - Microhomology-mediated 021d41d0-3273-11e6-9850-b83e75253f64 12_118011036_TGGGTGGAGGGTTTTA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 118011036 TGGGTGGAGGGT TTTA 540 PASS KSR2 Complex intronic 11 0 FANCC child 12_118011036_TGGGTGGAGGGTTTTA_FANCC 8 8 - - - - Complex 0223672e-328f-11e6-bd90-978e3adbad45 12_57629573_GGTTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 12 57629573 GGTT G 540 PASS NDUFA4L2 Del inframe 3 2 NEIL1 child 12_57629573_GGTTG_NEIL1 3 3 3 GTT 1 GTT Repeat-mediated 0224c0ca-328e-11e6-a83a-f948aa5f95ce 1_154489422_CAC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 1 154489422 CA C 660 PASS TDRD10 Del intronic 1 9 POLM child 1_154489422_CAC_POLM 1 1 1 A 8 A Repeat-mediated 02285832-3272-11e6-a539-0e5542c4520d 7_67632306_TTTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 67632306 T TTA 300 PASS RP5-945F2.3 Ins intronic 2 5 MSH6 child 7_67632306_TTTA_MSH6 2 2 - - - - Ins 022a1948-328a-11e6-9c89-8d090e01a414 1_36621695_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 36621695 AC A 540 PASS MAP7D1 Del 5prime_UTR_variant 1 7 MSH6 child 1_36621695_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 022e9d7c-3273-11e6-9e18-3a69671699ea 10_43493520_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 43493520 AG A 540 PASS MIR5100 Del downstream 1 6 MSH6 child 10_43493520_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 02345f5e-3288-11e6-bea5-2b9c20e7b7a8 17_31313733_ATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 17 31313733 AT A 660 PASS - Del - 1 8 POLE child 17_31313733_ATA_POLE 1 1 1 T 7 T Repeat-mediated 023871a4-329a-11e6-9048-b49fcc638e3d 17_6982901_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 6982901 CA C 540 PASS CLEC10A Del intronic 1 9 MSH6 child 17_6982901_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 023bf416-3293-11e6-b25c-c77219a91649 8_129055976_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 8 129055976 AT A 300 PASS PVT1 Del intronic 1 6 NEIL1 child 8_129055976_ATA_NEIL1 1 1 1 T 5 T Repeat-mediated 0240dbac-3324-11e6-922f-5f0e75253f64 4_77936800_ACTA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 4 77936800 ACT A 420 PASS SEPT11 Del intronic 2 2 POLE child 4_77936800_ACTA_POLE 2 2 2 CT 1 CT Repeat-mediated 0242c594-3288-11e6-a284-4b89a2c71c31 4_135095446_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 135095446 TA T 780 PASS - Del - 1 9 MSH6 child 4_135095446_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 02508294-3290-11e6-99d8-a1aee7d0bdd7 8_22960569_CCCCGGCCGCCTGATGGCCGAGGCAGGGTGCGACCCAGGACCCAGGACGGCGTCGGGAACCATACCATGGCCCGGATCCCCAAGACCCTAAAGTTCGTCGTCGTCATCGTCGCGGTCCTGCTGCCAGTGAGTCCCGGCCGCGGTCCCTGGCTGGGGAAGAGCGCACCTGGCGCCGGGAGGGGGCAGGGAGACGGGGACACGGCAGGGATGCCTGGCCCTGGTCACCTGCGGCCGGGCATGTCCGGGCAGGACGAACTCGCCGTCGGAGTCAGGGGAAGAACTGGGTCCCCGGGCTGGGCAGGAGGGAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 22960569 CCCCGGCCGCCTGATGGCCGAGGCAGGGTGCGACCCAGGACCCAGGACGGCGTCGGGAACCATACCATGGCCCGGATCCCCAAGACCCTAAAGTTCGTCGTCGTCATCGTCGCGGTCCTGCTGCCAGTGAGTCCCGGCCGCGGTCCCTGGCTGGGGAAGAGCGCACCTGGCGCCGGGAGGGGGCAGGGAGACGGGGACACGGCAGGGATGCCTGGCCCTGGTCACCTGCGGCCGGGCATGTCCGGGCAGGACGAACTCGCCGTCGGAGTCAGGGGAAGAACTGGGTCCCCGGGCTGGGCAGGAGGGA C 300 PASS TNFRSF10C Del cds_disrupted 306 1 FANCC child 8_22960569_CCCCGGCCGCCTGATGGCCGAGGCAGGGTGCGACCCAGGACCCAGGACGGCGTCGGGAACCATACCATGGCCCGGATCCCCAAGACCCTAAAGTTCGTCGTCGTCATCGTCGCGGTCCTGCTGCCAGTGAGTCCCGGCCGCGGTCCCTGGCTGGGGAAGAGCGCACCTGGCGCCGGGAGGGGGCAGGGAGACGGGGACACGGCAGGGATGCCTGGCCCTGGTCACCTGCGGCCGGGCATGTCCGGGCAGGACGAACTCGCCGTCGGAGTCAGGGGAAGAACTGGGTCCCCGGGCTGGGCAGGAGGGAC_FANCC 306 >=10 9 CCCGGCCGC 0 - Microhomology-mediated 025a796a-328c-11e6-a941-7397a178171f 6_152024783_GAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 6 152024783 GA G 480 PASS ESR1 Del intronic 1 6 FANCC child 6_152024783_GAG_FANCC 1 1 1 A 5 A Repeat-mediated 026cb106-3283-11e6-9607-56b01ac527ab 4_43690163_CTTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 43690163 CTT C 600 PASS - Del - 2 3 FANCC child 4_43690163_CTTC_FANCC 2 2 1 T 0 - Microhomology-mediated 027a3b68-327f-11e6-ac7d-5dfe684da5d2 17_64933331_GAG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 17 64933331 GA G 300 PASS - Del - 1 4 NEIL1 child 17_64933331_GAG_NEIL1 1 1 1 A 3 A Repeat-mediated 027a525c-329c-11e6-aca6-b39fcc638e3d 2_146820540_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 146820540 GT G 840 PASS - Del - 1 9 MSH6 child 2_146820540_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 0283a7f4-326e-11e6-9d68-ac9acab49462 15_73049908_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 73049908 TG T 300 PASS ADPGK Del intronic 1 1 MSH6 child 15_73049908_TGT_MSH6 1 1 0 - 0 G None 02852b8e-326d-11e6-9793-9a8fb0dab373 13_46480031_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 46480031 GT G 360 PASS - Del - 1 8 MSH6 child 13_46480031_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 028e2a4a-3254-11e6-89d3-d29498816cf3 2_52694835_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 52694835 GA G 360 PASS - Del - 1 7 MSH6 child 2_52694835_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 02909194-3255-11e6-9f9d-2c7a7872c165 12_98702005_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 98702005 CA C 300 PASS - Del - 1 8 MSH6 child 12_98702005_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 02910c06-3254-11e6-a4a7-35f212ae24cf 14_50759829_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 50759829 TA T 300 PASS L2HGDH Del intronic 1 9 MSH6 child 14_50759829_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 02946006-3275-11e6-a862-bc9becf1e924 1_176812372_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 176812372 CT C 480 PASS PAPPA2 Del 3prime_UTR_variant 1 9 MSH6 child 1_176812372_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0296a7f0-3287-11e6-b5e8-4ea538e8a824 18_6330848_TCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 18 6330848 TC T 480 PASS L3MBTL4 Del intronic 1 1 NUDT1 parent 18_6330848_TCT_NUDT1 1 1 0 - 0 C None 029c2c3e-3287-11e6-86e9-d4770d016689 X_118695206_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 118695206 CA C 600 PASS CXorf56 Del intronic 1 9 EXO1 child X_118695206_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 029d4514-3292-11e6-8d18-13cc0d01a414 20_20855341_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 20855341 CT C 300 PASS - Del - 1 8 MSH6 child 20_20855341_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 02b2cc78-3273-11e6-bfb2-2749c225ee11 12_48373768_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 48373768 TG T 540 PASS COL2A1 Del intronic 1 4 MSH6 child 12_48373768_TGT_MSH6 1 1 1 G 3 G Repeat-mediated 02b4b9f0-328e-11e6-bc12-79ae12ae24cf 8_69743649_AGA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 8 69743649 AG A 540 PASS - Del - 1 1 CHK2 child 8_69743649_AGA_CHK2 1 1 0 - 0 G None 02c164e2-328a-11e6-8eee-76090e01a414 10_52046223_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 52046223 CA C 360 PASS - Del - 1 7 MSH6 child 10_52046223_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 02c32a2a-328a-11e6-9c9a-e78fa178171f 21_25559481_TAGGTAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 21 25559481 TAGGTA T 300 PASS AP000470.2 Del intronic 5 1 FANCC child 21_25559481_TAGGTAT_FANCC 5 5 1 A 0 - Microhomology-mediated 02d0bf0c-3297-11e6-9718-edf997ba1142 15_61715584_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 15 61715584 AT A 420 PASS RP11-507B12.2 Del intronic 1 7 CHK2 child 15_61715584_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 02d51984-328e-11e6-b5d1-34059c6d3b88 13_80831482_CTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 13 80831482 CT C 540 PASS - Del - 1 9 POLB child 13_80831482_CTC_POLB 1 1 1 T 8 T Repeat-mediated 02d6997c-3279-11e6-82ea-418d12ae24cf 7_32213140_TTA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 7 32213140 T TA 300 PASS PDE1C Ins intronic 1 9 EXO1 child 7_32213140_TTA_EXO1 1 1 - - - - Ins 02daeabe-3278-11e6-a862-bc9becf1e924 1_114280256_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 114280256 C CA 600 PASS PHTF1 Ins intronic 1 6 MSH6 child 1_114280256_CCA_MSH6 1 1 - - - - Ins 02dd9bfc-3290-11e6-bbb7-3068694da5d2 7_42333300_GAG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 7 42333300 GA G 720 PASS - Del - 1 8 POLM child 7_42333300_GAG_POLM 1 1 1 A 7 A Repeat-mediated 02f1c448-329e-11e6-a5cf-205325c9da85 11_125792974_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 125792974 T TA 780 PASS DDX25 Ins 3prime_UTR_variant 1 7 MSH6 child 11_125792974_TTA_MSH6 1 1 - - - - Ins 02f61be0-3255-11e6-9f9d-2c7a7872c165 12_98781318_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 98781318 GA G 480 PASS - Del - 1 9 MSH6 child 12_98781318_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 02f672b0-3256-11e6-8a2a-3af212ae24cf 16_64247394_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 64247394 A AT 300 PASS - Ins - 1 8 MSH6 child 16_64247394_AAT_MSH6 1 1 - - - - Ins 02fdc146-328d-11e6-af70-9d5c694da5d2 15_51796942_GACG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 15 51796942 GAC G 300 PASS DMXL2 Del intronic 2 1 POLM child 15_51796942_GACG_POLM 2 2 1 A 0 - Microhomology-mediated 03025ce0-3258-11e6-91d3-a68412ae24cf 7_114439491_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 114439491 AT A 840 PASS - Del - 1 8 MSH6 child 7_114439491_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 03163c96-3290-11e6-bc33-ab6919a91649 18_60675872_AAGG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 18 60675872 A AGG 480 PASS - Ins - 2 2 NEIL1 child 18_60675872_AAGG_NEIL1 2 2 - - - - Ins 031e9cf4-3292-11e6-8b9f-eea73adbad45 3_65161054_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 65161054 CA C 300 PASS RP11-543A18.1 Del intronic 1 7 NEIL1 child 3_65161054_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated 03280c36-326e-11e6-b306-b5204b47a305 2_123728785_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 123728785 GT G 420 PASS - Del - 1 8 MSH6 child 2_123728785_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 032ed35a-3295-11e6-b4c5-47357a852e0e 8_79462734_TTCAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 8 79462734 TTCA T 420 PASS PKIA Del intronic 3 2 CHK2 child 8_79462734_TTCAT_CHK2 3 3 3 TCA 1 TCA Repeat-mediated 033037d6-3259-11e6-b950-8759fa52e078 X_77955938_TTG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA X 77955938 T TG 480 PASS - Ins - 1 1 POLM child X_77955938_TTG_POLM 1 1 - - - - Ins 0337a774-3271-11e6-b923-6726694da5d2 5_112421385_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 112421385 CT C 300 PASS MCC Del intronic 1 7 MSH6 child 5_112421385_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 033ac1ec-328b-11e6-9035-7296cdacbbbf 2_219716603_GTTCAAGCGATTCG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 2 219716603 GTTCAAGCGATTC G 600 PASS - Del - 12 1 FANCC child 2_219716603_GTTCAAGCGATTCG_FANCC 12 >=10 1 T 0 - Microhomology-mediated 033f97ac-329b-11e6-b74d-b59fcc638e3d 18_75824145_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 75824145 CA C 720 PASS - Del - 1 7 MSH6 child 18_75824145_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 0340c4d8-3327-11e6-bd6e-9bc7cde16804 6_138888396_CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACTCCTCCTGAGTA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 6 138888396 CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACT CCTCCTGAGTA 600 PASS NHSL1 Complex intronic 1258 0 CHK2 child 6_138888396_CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACTCCTCCTGAGTA_CHK2 1248 >=10 - - - - Complex 03443a70-328f-11e6-b8c3-19a5e7d0bdd7 12_119911261_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 12 119911261 AT A 540 PASS CCDC60 Del intronic 1 9 FANCC child 12_119911261_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 034a6612-329d-11e6-aca6-b39fcc638e3d 2_208369199_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 208369199 TA T 660 PASS - Del - 1 9 MSH6 child 2_208369199_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 035db3ba-328f-11e6-b4fe-93c36f39e758 12_70783638_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 70783638 G GT 360 PASS KCNMB4 Ins intronic 1 3 MSH6 child 12_70783638_GGT_MSH6 1 1 - - - - Ins 036658dc-3256-11e6-b7c7-cd919b6d3b88 18_76517275_AAGACCAGCACGTTCCAGCCTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 18 76517275 A AGACCAGCACGTTCCAGCCTC 360 PASS - Ins - 20 0 POLM child 18_76517275_AAGACCAGCACGTTCCAGCCTC_POLM 20 >=10 - - - - Ins 036ce420-328a-11e6-b805-77090e01a414 2_49255238_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 49255238 CA C 540 PASS FSHR Del intronic 1 8 MSH6 child 2_49255238_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 036d5796-3287-11e6-b32c-fd87a2c71c31 5_81600752_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 81600752 GA G 660 PASS ATP6AP1L Del 5prime_UTR_variant 1 9 MSH6 child 5_81600752_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 037068ca-328f-11e6-92cf-bf2a0e01a414 6_18649039_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 18649039 TA T 360 PASS - Del - 1 7 MSH6 child 6_18649039_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0376421a-326f-11e6-8b35-58bb7872c165 13_21669081_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 13 21669081 CT C 360 PASS - Del - 1 7 EXO1 parent 13_21669081_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 037789f8-3284-11e6-9546-b5936f39e758 15_31078169_GATAAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 31078169 GATAA G 300 PASS - Del - 4 2 EXO1 child 15_31078169_GATAAG_EXO1 4 4 4 ATAA 1 ATAA Repeat-mediated 03941ee4-3291-11e6-9401-04ed6f39e758 3_69260572_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 69260572 CA C 300 PASS FRMD4B Del intronic 1 8 MSH6 child 3_69260572_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 039512bc-3288-11e6-8bbd-f88da2c71c31 21_43434518_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 43434518 CA C 300 PASS ZBTB21 Del upstream 1 9 MSH6 child 21_43434518_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 03995698-3273-11e6-bfb2-2749c225ee11 12_48795002_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 48795002 AT A 300 PASS - Del - 1 7 MSH6 child 12_48795002_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 039a2dec-329c-11e6-ae71-0c5325c9da85 1_119316859_AATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 119316859 AAT A 263 PASS - Del - 2 3 MSH6 child 1_119316859_AATA_MSH6 2 2 2 AT 2 AT Repeat-mediated 039ad25e-328f-11e6-8f31-bfe16f39e758 9_95074261_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 95074261 GA G 660 PASS NOL8 Del intronic 1 4 MSH6 child 9_95074261_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 039ba002-326d-11e6-9793-9a8fb0dab373 13_46973713_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 46973713 TA T 300 PASS KIAA0226L Del intronic 1 9 MSH6 child 13_46973713_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 03a73ac0-329f-11e6-aca6-b39fcc638e3d 2_82579709_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 82579709 A AT 540 PASS - Ins - 1 7 MSH6 child 2_82579709_AAT_MSH6 1 1 - - - - Ins 03a8b3f2-3270-11e6-aa5d-c85dcde16804 12_103695113_GAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 12 103695113 GA G 360 PASS C12orf42 Del downstream 1 7 NEIL1 child 12_103695113_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated 03a9ada0-3277-11e6-998e-ba48fa52e078 8_98101793_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 98101793 TA T 480 PASS CPQ Del intronic 1 8 MSH6 child 8_98101793_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 03b00faa-328c-11e6-aa75-90c36f39e758 13_48186372_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 48186372 TA T 540 PASS - Del - 1 9 MSH6 child 13_48186372_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 03b33404-3256-11e6-b4d0-327a7872c165 11_32366718_AAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 32366718 A AG 300 PASS - Ins - 1 7 MSH6 child 11_32366718_AAG_MSH6 1 1 - - - - Ins 03bc281e-328a-11e6-8459-82090e01a414 12_46059623_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 46059623 TA T 300 PASS - Del - 1 8 MSH6 child 12_46059623_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 03bcf54e-3291-11e6-92cf-bf2a0e01a414 6_143253608_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 143253608 TA T 480 PASS HIVEP2 Del intronic 1 8 MSH6 child 6_143253608_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 03d020c2-328e-11e6-ab9a-705238e8a824 18_34440417_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 18 34440417 AT A 480 PASS KIAA1328 Del intronic 1 8 FANCC child 18_34440417_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 03e70cec-327a-11e6-9dfe-7ec135761512 1_119299933_AGA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 1 119299933 AG A 840 PASS - Del - 1 1 FANCC parent 1_119299933_AGA_FANCC 1 1 0 - 0 G None 041297b0-3273-11e6-aca7-e2b6dcd214c4 5_164819236_CAC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 5 164819236 CA C 480 PASS CTC-535M15.2 Del intronic 1 6 POLM child 5_164819236_CAC_POLM 1 1 1 A 5 A Repeat-mediated 0417f878-3272-11e6-b084-b6b99d7ad846 16_27864402_GAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 16 27864402 GA G 540 PASS GSG1L Del intronic 1 8 NEIL1 child 16_27864402_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 041ab50c-3288-11e6-b9eb-c78fa2c71c31 6_15456821_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 15456821 AT A 420 PASS JARID2 Del intronic 1 9 MSH6 child 6_15456821_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 041cae9a-326d-11e6-9793-9a8fb0dab373 13_47135701_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 47135701 AT A 300 PASS LRCH1 Del intronic 1 5 MSH6 child 13_47135701_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 041e3fd8-326f-11e6-b306-b5204b47a305 2_212988216_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 212988216 AT A 600 PASS ERBB4 Del intronic 1 6 MSH6 child 2_212988216_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 041e5ed2-3288-11e6-8feb-e6ab6f39e758 3_35802346_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 3 35802346 TA T 300 PASS ARPP21 Del intronic 1 8 EXO1 child 3_35802346_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 0420305a-3273-11e6-9e18-3a69671699ea 10_43903536_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 43903536 AT A 480 PASS HNRNPF Del intronic 1 9 MSH6 child 10_43903536_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 042311ee-3278-11e6-9019-27a01da8ec0e 6_140055280_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 6 140055280 CT C 360 PASS - Del - 1 8 FANCC child 6_140055280_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 0426d5be-3290-11e6-b97d-a8b305ad5bc4 20_56515162_TTCTCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 56515162 TTCTC T 480 PASS - Del - 4 5 MSH6 child 20_56515162_TTCTCT_MSH6 4 4 4 TCTC 3 TC Repeat-mediated 0428c49c-328a-11e6-a32d-75090e01a414 14_66068661_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 66068661 CT C 360 PASS FUT8 Del intronic 1 8 MSH6 child 14_66068661_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 042a6a60-3256-11e6-89d3-d29498816cf3 2_13676700_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 13676700 T TA 540 PASS AC092635.1 Ins upstream 1 7 MSH6 child 2_13676700_TTA_MSH6 1 1 - - - - Ins 04322dfe-328d-11e6-8e48-791e0e01a414 8_32222882_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 32222882 CT C 360 PASS NRG1 Del intronic 1 8 MSH6 child 8_32222882_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0438621a-329b-11e6-ae71-0c5325c9da85 1_56231743_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 56231743 CA C 420 PASS - Del - 1 6 MSH6 child 1_56231743_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 04387354-32a0-11e6-aea7-956725c9da85 3_102057998_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 102057998 AT A 660 PASS ZPLD1 Del intronic 1 8 MSH6 child 3_102057998_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 0438ecc8-3276-11e6-83cd-a472a178171f 4_68078160_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 68078160 CA C 660 PASS - Del - 1 8 MSH6 child 4_68078160_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0439469e-3282-11e6-b1f4-d855f7d33ce3 10_132322305_CAATC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 10 132322305 CAAT C 480 PASS - Del - 3 1 NUDT1 child 10_132322305_CAATC_NUDT1 3 3 1 A 0 - Microhomology-mediated 044b1cce-328d-11e6-8256-94c36f39e758 17_74812036_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 74812036 CA C 420 PASS - Del - 1 9 MSH6 child 17_74812036_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 044eee68-329b-11e6-bda6-065325c9da85 13_95467559_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 95467559 GA G 660 PASS - Del - 1 5 MSH6 child 13_95467559_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 0453325e-328f-11e6-bec1-ca1d0e01a414 X_141976642_CATC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 141976642 CAT C 420 PASS - Del - 2 6 MSH6 child X_141976642_CATC_MSH6 2 2 2 AT 5 AT Repeat-mediated 0457e49c-326d-11e6-9793-9a8fb0dab373 13_47181517_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 47181517 CT C 300 PASS LRCH1 Del intronic 1 7 MSH6 child 13_47181517_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 04697f26-328c-11e6-b8e6-91c36f39e758 11_30849414_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 30849414 TA T 360 PASS - Del - 1 8 MSH6 child 11_30849414_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 048002ea-326f-11e6-9fba-41ebd8b4fa2c 11_88138285_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 88138285 GA G 660 PASS - Del - 1 7 MSH6 child 11_88138285_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 0483be78-3290-11e6-bf99-1e6bfc77b11e 11_127322593_GGTATTT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 11 127322593 G GTATTT 300 PASS - Ins - 5 5 POLE child 11_127322593_GGTATTT_POLE 5 5 - - - - Ins 04865d12-3255-11e6-a304-347a7872c165 1_93607731_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 93607731 GT G 300 PASS MTF2 Del downstream 1 9 MSH6 child 1_93607731_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 0490cf5c-328e-11e6-8f31-bfe16f39e758 9_7671298_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 7671298 CA C 540 PASS - Del - 1 8 MSH6 child 9_7671298_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 049da17a-3255-11e6-b4d0-327a7872c165 11_100687052_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 100687052 GT G 300 PASS ARHGAP42 Del intronic 1 9 MSH6 child 11_100687052_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 04a0d314-3277-11e6-92d2-c259c225ee11 3_50009838_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 50009838 TA T 600 PASS RBM6 Del intronic 1 8 MSH6 child 3_50009838_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 04a95132-3291-11e6-a454-be257a852e0e 17_5067728_TTTACGAGTTGATTAACAA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 17 5067728 TTTACGAGTTGAT TAACAA 360 PASS USP6 Complex intronic 12 0 CHK2 child 17_5067728_TTTACGAGTTGATTAACAA_CHK2 7 7 - - - - Complex 04b38e86-3287-11e6-989a-645b51c54cdd 5_2491972_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 5 2491972 CA C 420 PASS - Del - 1 8 EXO1 child 5_2491972_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 04b59dbe-3257-11e6-a304-347a7872c165 1_240755721_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 240755721 TA T 480 PASS GREM2 Del intronic 1 8 MSH6 child 1_240755721_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 04b6103e-328c-11e6-ac7a-a3c36f39e758 18_33822982_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 33822982 AT A 720 PASS MOCOS Del intronic 1 9 MSH6 child 18_33822982_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 04bc8a30-326f-11e6-996e-f60b98ba1142 18_371594_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 18 371594 AT A 420 PASS COLEC12 Del intronic 1 9 EXO1 parent 18_371594_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 04c46a5e-327c-11e6-a391-f6d67d6a9fc7 6_139192955_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 139192955 C CA 420 PASS ECT2L Ins intronic 1 8 MSH6 child 6_139192955_CCA_MSH6 1 1 - - - - Ins 04cbe20c-3290-11e6-9401-04ed6f39e758 3_2906122_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 2906122 GA G 328 PASS CNTN4 Del intronic 1 9 MSH6 child 3_2906122_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 04d5c226-328c-11e6-88c1-95c36f39e758 14_50342246_TTGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 50342246 TTG T 420 PASS - Del - 2 6 MSH6 child 14_50342246_TTGT_MSH6 2 2 2 TG 5 TG Repeat-mediated 04d8b8a0-326e-11e6-9f48-94df41c4520d 12_110334554_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 110334554 GA G 300 PASS TCHP Del upstream 1 8 MSH6 child 12_110334554_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 04da3cd8-3292-11e6-b81f-4ee66f39e758 8_545675_TTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 545675 T TG 420 PASS - Ins - 1 5 MSH6 child 8_545675_TTG_MSH6 1 1 - - - - Ins 04dbd192-3288-11e6-a284-4b89a2c71c31 4_136260651_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 136260651 AT A 480 PASS - Del - 1 6 MSH6 child 4_136260651_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 04e45e2c-329f-11e6-91d0-016425c9da85 7_92306919_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 92306919 CA C 660 PASS CDK6 Del intronic 1 8 MSH6 child 7_92306919_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 04f2bba4-3293-11e6-90fc-6b0fb968caf4 12_55578986_ATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 12 55578986 AT A 360 PASS - Del - 1 7 POLB child 12_55578986_ATA_POLB 1 1 1 T 6 T Repeat-mediated 04f51910-3290-11e6-b97d-a8b305ad5bc4 20_57171024_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 57171024 TG T 600 PASS APCDD1L-AS1 Del intronic 1 7 MSH6 child 20_57171024_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 04f7d018-326f-11e6-acc7-e55219a91649 1_215105534_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 215105534 TA T 300 PASS - Del - 1 7 MSH6 child 1_215105534_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 04f86570-327c-11e6-8a91-643d87a84063 1_66170288_TAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 1 66170288 TA T 720 PASS - Del - 1 8 POLM child 1_66170288_TAT_POLM 1 1 1 A 7 A Repeat-mediated 05089bac-3281-11e6-86cf-8f288e4678dd 10_53771008_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 53771008 AT A 600 PASS PRKG1 Del intronic 1 7 FANCC child 10_53771008_ATA_FANCC 1 1 1 T 6 T Repeat-mediated 05134ab4-3292-11e6-9749-1e2c0625f869 4_179738168_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 4 179738168 AT A 600 PASS - Del - 1 7 NEIL1 child 4_179738168_ATA_NEIL1 1 1 1 T 6 T Repeat-mediated 0514febc-3257-11e6-a39a-dc8512ae24cf 8_21049383_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 21049383 GA G 404 PASS - Del - 1 9 MSH6 child 8_21049383_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 05186e34-3271-11e6-9850-b83e75253f64 12_16501216_GATAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 16501216 GATA G 300 PASS MGST1 Del intronic 3 2 FANCC child 12_16501216_GATAG_FANCC 3 3 3 ATA 1 ATA Repeat-mediated 0519e410-3278-11e6-a47c-77abeab8d062 5_129412145_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 129412145 CT C 360 PASS CHSY3 Del intronic 1 9 EXO1 child 5_129412145_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 051a5616-325a-11e6-8340-da9012ae24cf 6_106068621_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 106068621 TG T 960 PASS RP3-359N14.2 Del intronic 1 6 MSH6 child 6_106068621_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 051eaab2-3346-11e6-b0ff-c495e84777f6 10_37649083_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 37649083 TA T 420 PASS ANKRD30A Del intronic 1 8 FANCC child 10_37649083_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 052293c2-328b-11e6-a80b-87090e01a414 11_108471178_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 108471178 AT A 360 PASS - Del - 1 1 MSH6 child 11_108471178_ATA_MSH6 1 1 0 - 0 T None 05263d06-329f-11e6-91d0-016425c9da85 7_92506342_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 92506342 GA G 660 PASS - Del - 1 8 MSH6 child 7_92506342_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 053a453e-3291-11e6-9401-04ed6f39e758 3_69473164_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 69473164 TA T 660 PASS - Del - 1 9 MSH6 child 3_69473164_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 054266ea-3284-11e6-ba80-c6262eaed38e 2_74715463_AAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 2 74715463 A AT 840 PASS TTC31 Ins intronic 1 8 POLB child 2_74715463_AAT_POLB 1 1 - - - - Ins 054cb398-3329-11e6-a435-b8ae4430f757 20_49139288_GTATTTATTG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 20 49139288 GTATTTATT G 300 PASS PTPN1 Del intronic 8 4 CHK2 child 20_49139288_GTATTTATTG_CHK2 8 8 8 TATTTATT 2 TATT Repeat-mediated 054d9556-329d-11e6-ae71-0c5325c9da85 1_184189051_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 184189051 TA T 780 PASS - Del - 1 8 MSH6 child 1_184189051_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 05503af6-326e-11e6-adc2-b7204b47a305 18_41712941_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 41712941 G GA 540 PASS - Ins - 1 8 MSH6 child 18_41712941_GGA_MSH6 1 1 - - - - Ins 055b1ec8-3271-11e6-9309-bdc34a47a305 8_84380226_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 84380226 GT G 540 PASS - Del - 1 8 MSH6 child 8_84380226_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 055bba0c-3327-11e6-8edd-1f307246d362 3_172045181_ATA . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 3 172045181 AT A 720 PASS FNDC3B Del intronic 1 7 CHK2 parent 3_172045181_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 056001a2-3278-11e6-ab69-1c1607e9a829 9_124423474_GGCAGCTT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 124423474 G GCAGCTT 660 PASS DAB2IP Ins intronic 6 0 MSH6 child 9_124423474_GGCAGCTT_MSH6 6 6 - - - - Ins 0560a5b6-3292-11e6-9413-6a7219a91649 5_109490253_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 109490253 TA T 540 PASS - Del - 1 7 NEIL1 child 5_109490253_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated 05632e52-3293-11e6-b733-69ecb41afd22 19_30755498_ATA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 19 30755498 AT A 300 PASS ZNF536 Del intronic 1 9 NEIL1 child 19_30755498_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 05668524-3258-11e6-9d15-298312ae24cf X_91915903_ATTGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 91915903 ATTG A 359 PASS - Del - 3 2 MSH6 child X_91915903_ATTGA_MSH6 3 3 3 TTG 1 TTG Repeat-mediated 056ec6c6-3276-11e6-9e0f-7959cab49462 7_38929865_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 38929865 CA C 540 PASS VPS41 Del intronic 1 7 MSH6 child 7_38929865_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 056ee930-3285-11e6-99f7-076ea2c71c31 12_55715793_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 55715793 CA C 360 PASS OR6C1 Del downstream 1 9 MSH6 child 12_55715793_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0571bd94-326d-11e6-adc2-b7204b47a305 18_35395358_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 35395358 TA T 360 PASS - Del - 1 6 MSH6 child 18_35395358_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 0572ee52-3273-11e6-8418-1c5942c4520d 3_81429643_TTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 81429643 T TG 480 PASS - Ins - 1 2 MSH6 child 3_81429643_TTG_MSH6 1 1 - - - - Ins 057c75f2-3297-11e6-8669-5f48a178171f 15_91831873_TTTC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 15 91831873 T TTC 420 PASS SV2B Ins intronic 2 7 NEIL1 child 15_91831873_TTTC_NEIL1 2 2 - - - - Ins 058adc94-3294-11e6-8cd8-07045e753391 2_231618875_AAC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 2 231618875 A AC 360 PASS CAB39 Ins intronic 1 3 POLB child 2_231618875_AAC_POLB 1 1 - - - - Ins 058d4cba-325b-11e6-8b28-55ad7872c165 20_31358852_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 31358852 CT C 300 PASS DNMT3B Del intronic 1 9 MSH6 child 20_31358852_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0591e98e-3281-11e6-9d0e-b4dad4957ca3 21_31461186_TAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 21 31461186 TA T 660 PASS AF096876.1 Del upstream 1 9 NEIL1 child 21_31461186_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 059f196e-3255-11e6-8f56-7d832aaffa45 13_78527950_GAAAATG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 13 78527950 GAAAAT G 480 PASS - Del - 5 2 POLM child 13_78527950_GAAAATG_POLM 5 5 5 AAAAT 4 A Microhomology-mediated 059f7d3c-3287-11e6-a5b3-3f1ebce6aa09 7_56355470_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 56355470 CT C 360 PASS - Del - 1 8 MSH6 child 7_56355470_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 05a3a57c-328e-11e6-b6a6-1f1e0e01a414 4_95979139_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 95979139 TA T 600 PASS BMPR1B Del intronic 1 7 MSH6 child 4_95979139_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 05ad7072-3282-11e6-a1d1-b18df4b7c17d 1_234332690_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 234332690 GA G 420 PASS SLC35F3 Del intronic 1 9 FANCC child 1_234332690_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 05b207f2-3293-11e6-93dd-5948a178171f 11_38328918_TACCAGAT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 11 38328918 TACCAGA T 360 PASS - Del - 6 1 NEIL1 child 11_38328918_TACCAGAT_NEIL1 6 6 0 - 0 - None 05b3f77e-3275-11e6-9ef9-d85a25c9da85 3_182820413_GAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 3 182820413 GA G 720 PASS MCCC1 Del upstream 1 8 POLM child 3_182820413_GAG_POLM 1 1 1 A 7 A Repeat-mediated 05ca3c44-3277-11e6-8717-f13d8a20d9eb 6_126776923_CTAC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 6 126776923 CTA C 300 PASS - Del - 2 1 CHK2 child 6_126776923_CTAC_CHK2 2 2 1 T 0 - Microhomology-mediated 05cc6fc8-327c-11e6-a9e7-37e798816cf3 14_91401262_CTTC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 14 91401262 CTT C 420 PASS RPS6KA5 Del intronic 2 3 POLM child 14_91401262_CTTC_POLM 2 2 1 T 0 - Microhomology-mediated 05da2748-3296-11e6-957b-aef8d8b4fa2c 8_57685794_TAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 8 57685794 TA T 540 PASS - Del - 1 1 NUDT1 child 8_57685794_TAT_NUDT1 1 1 0 - 0 A None 05deee10-328a-11e6-a80b-87090e01a414 11_46134307_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 46134307 TA T 420 PASS PHF21A Del intronic 1 9 MSH6 child 11_46134307_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 05e0baf8-3274-11e6-a5d0-4fd14a47a305 2_142802194_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 142802194 AT A 600 PASS LRP1B Del intronic 1 9 MSH6 child 2_142802194_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 05e2aaaa-328f-11e6-8cd8-07045e753391 2_140733640_GATG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 2 140733640 GAT G 300 PASS - Del - 2 5 POLB child 2_140733640_GATG_POLB 2 2 2 AT 4 AT Repeat-mediated 05e61854-3288-11e6-a5b3-3f1ebce6aa09 7_148548313_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 148548313 AC A 540 PASS EZH2 Del intronic 1 6 MSH6 child 7_148548313_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 05eeafa8-328a-11e6-8e41-628fa178171f 22_42681651_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 22 42681651 AT A 300 PASS TCF20 Del intronic 1 8 FANCC child 22_42681651_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 05f3dcd4-3272-11e6-9303-36f41da8ec0e 14_97765528_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 14 97765528 CT C 300 PASS - Del - 1 7 FANCC child 14_97765528_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 05f756f2-3281-11e6-989b-28bd9b6d3b88 12_40629553_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 12 40629553 TA T 420 PASS LRRK2 Del intronic 1 9 EXO1 child 12_40629553_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 05ff892c-3271-11e6-a390-fc104530f757 1_20657036_TCTTTTTCCCTCTCAAGTTCTGAATGGGTGAGCTACCCATGCCTCTGCACACGACTCACAAGAGAAGCCCAGGGAGAGGTCCCACAGCCAAGGGAGAGGCTGCTCCCGCTCTGTGCTGGGTGGGAATTAATGGACTGTCTGTGGGTGAATTGATGGGTGTGTATGTGGGTACCCCCGATGGCCCCTCTTCCTTCTCCCTCTCCCTCTACCTGAATATAGGGCCAGCTCCAAGATCCTGCCAGACCATGCTCTGTCCCTTTCTGCATCAGGAGGCAAAGATGCAGAGAGGATAAGACATAGCAGCCTCTCTTCTCCCTTTCCGCCAGGTGCTATAGT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 20657036 TCTTTTTCCCTCTCAAGTTCTGAATGGGTGAGCTACCCATGCCTCTGCACACGACTCACAAGAGAAGCCCAGGGAGAGGTCCCACAGCCAAGGGAGAGGCTGCTCCCGCTCTGTGCTGGGTGGGAATTAATGGACTGTCTGTGGGTGAATTGATGGGTGTGTATGTGGGTACCCCCGATGGCCCCTCTTCCTTCTCCCTCTCCCTCTACCTGAATATAGGGCCAGCTCCAAGATCCTGCCAGACCATGCTCTGTCCCTTTCTGCATCAGGAGGCAAAGATGCAGAGAGGATAAGACATAGCAGCCTCTCTTCTCCCTTTCCGCCAGGTGCTATAG T 360 PASS VWA5B1 Del ess_splice 334 1 FANCC child 1_20657036_TCTTTTTCCCTCTCAAGTTCTGAATGGGTGAGCTACCCATGCCTCTGCACACGACTCACAAGAGAAGCCCAGGGAGAGGTCCCACAGCCAAGGGAGAGGCTGCTCCCGCTCTGTGCTGGGTGGGAATTAATGGACTGTCTGTGGGTGAATTGATGGGTGTGTATGTGGGTACCCCCGATGGCCCCTCTTCCTTCTCCCTCTCCCTCTACCTGAATATAGGGCCAGCTCCAAGATCCTGCCAGACCATGCTCTGTCCCTTTCTGCATCAGGAGGCAAAGATGCAGAGAGGATAAGACATAGCAGCCTCTCTTCTCCCTTTCCGCCAGGTGCTATAGT_FANCC 334 >=10 4 CTTT 0 - Microhomology-mediated 0602179a-3281-11e6-9066-1ba854de4fc4 14_80682635_ACAAAGAGCA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 14 80682635 ACAAAGAGC A 420 PASS DIO2 Del intronic 8 1 FANCC child 14_80682635_ACAAAGAGCA_FANCC 8 8 2 CA 0 - Microhomology-mediated 0608183a-3271-11e6-a390-fc104530f757 1_20661421_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 20661421 AT A 360 PASS VWA5B1 Del intronic 1 6 FANCC child 1_20661421_ATA_FANCC 1 1 1 T 5 T Repeat-mediated 060b0d6e-3272-11e6-a0a7-943dc225ee11 1_221148118_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 221148118 GA G 480 PASS - Del - 1 8 EXO1 parent 1_221148118_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 060f2efa-3270-11e6-a539-0e5542c4520d 7_73724689_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 73724689 CA C 300 PASS CLIP2 Del intronic 1 6 MSH6 child 7_73724689_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 061a8aee-3328-11e6-9f5d-eba78a20d9eb 8_80452551_GTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 80452551 GT G 360 PASS - Del - 1 5 EXO1 child 8_80452551_GTG_EXO1 1 1 1 T 4 T Repeat-mediated 06248d1e-3283-11e6-aa13-78428e4678dd 5_32546324_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 32546324 CT C 300 PASS SUB1 Del intronic 1 9 EXO1 child 5_32546324_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 062c2ed8-328e-11e6-8f31-bfe16f39e758 9_8307540_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 8307540 CT C 720 PASS - Del - 1 8 MSH6 child 9_8307540_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0631cc0a-3273-11e6-aa3b-ca60a178171f 13_59451956_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 59451956 CT C 540 PASS - Del - 1 9 MSH6 child 13_59451956_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0640ad5e-3257-11e6-91d3-a68412ae24cf 7_36762940_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 36762940 CA C 300 PASS AOAH Del intronic 1 8 MSH6 child 7_36762940_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 064bbcc2-3292-11e6-8d00-b1b0e7d0bdd7 5_167281352_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 167281352 GA G 360 PASS TENM2 Del intronic 1 7 FANCC child 5_167281352_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 064db638-3271-11e6-8418-1c5942c4520d 3_103268831_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 103268831 GA G 420 PASS - Del - 1 7 MSH6 child 3_103268831_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 065050fc-3292-11e6-98e0-70dad8b4fa2c 2_62716266_ATGA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 62716266 ATG A 540 PASS - Del - 2 2 NUDT1 child 2_62716266_ATGA_NUDT1 2 2 2 TG 1 TG Repeat-mediated 0654d316-3288-11e6-a8ac-a28ea2c71c31 3_39871261_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 39871261 TA T 1020 PASS MYRIP Del intronic 1 8 MSH6 child 3_39871261_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 065716da-328d-11e6-8952-77c36f39e758 10_95642436_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 95642436 TA T 420 PASS - Del - 1 8 MSH6 child 10_95642436_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 065a38ea-3285-11e6-870e-6af1bbe6aa09 19_39116158_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 39116158 CT C 360 PASS EIF3K Del intronic 1 9 MSH6 child 19_39116158_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 065c9ea2-329c-11e6-b549-1e5325c9da85 10_130971692_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 130971692 CT C 420 PASS - Del - 1 7 MSH6 child 10_130971692_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 066b4292-326d-11e6-9f48-94df41c4520d 12_32525819_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 32525819 GA G 360 PASS BICD1 Del intronic 1 7 MSH6 child 12_32525819_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 066ee260-3288-11e6-b9eb-c78fa2c71c31 6_16372981_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 16372981 CA C 540 PASS ATXN1 Del intronic 1 8 MSH6 child 6_16372981_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0670bbc8-3281-11e6-9d0e-b4dad4957ca3 21_32056408_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 21 32056408 CA C 540 PASS - Del - 1 8 NEIL1 child 21_32056408_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated 0671a260-328e-11e6-aa75-90c36f39e758 13_76224275_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 76224275 C CT 420 PASS LMO7 Ins intronic 1 8 MSH6 child 13_76224275_CCT_MSH6 1 1 - - - - Ins 0679fc48-3320-11e6-898e-96c25d753391 11_32487164_TTGT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 11 32487164 TTG T 660 PASS - Del - 2 8 CHK2 parent 11_32487164_TTGT_CHK2 2 2 2 TG 7 TG Repeat-mediated 067c0d7e-327d-11e6-a791-f4a03adbad45 18_23324622_GGTTCTAACCCA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 18 23324622 G GTTCTAACCCA 600 PASS - Ins - 10 0 NUDT1 child 18_23324622_GGTTCTAACCCA_NUDT1 10 >=10 - - - - Ins 067fee2e-3275-11e6-9b52-2fdc6de4ab00 12_115066850_CAAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 12 115066850 CAA C 480 PASS - Del - 2 4 EXO1 child 12_115066850_CAAC_EXO1 2 2 2 AA 2 A Repeat-mediated 068420a4-3255-11e6-89d3-d29498816cf3 2_166199949_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 166199949 TA T 600 PASS SCN2A Del intronic 1 7 MSH6 child 2_166199949_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 068a74fa-3321-11e6-be49-204207e9a829 1_20340372_TAT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 1 20340372 TA T 300 PASS - Del - 1 8 POLE child 1_20340372_TAT_POLE 1 1 1 A 7 A Repeat-mediated 068e0974-326f-11e6-acc7-e55219a91649 1_215753427_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 215753427 AT A 360 PASS KCTD3 Del intronic 1 9 MSH6 child 1_215753427_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 069af016-3270-11e6-9573-f50b98ba1142 17_68034581_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 17 68034581 TA T 660 PASS - Del - 1 8 EXO1 parent 17_68034581_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 069c2b94-3288-11e6-b093-c9c7b0dab373 2_44186708_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 44186708 T TA 420 PASS LRPPRC Ins intronic 1 5 MSH6 child 2_44186708_TTA_MSH6 1 1 - - - - Ins 06a06858-3292-11e6-9d24-ade56f39e758 7_64906934_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 64906934 G GA 960 PASS - Ins - 1 1 MSH6 child 7_64906934_GGA_MSH6 1 1 - - - - Ins 06a0efe6-3290-11e6-9432-c0e56f39e758 5_100823747_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 100823747 AT A 600 PASS - Del - 1 8 MSH6 child 5_100823747_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 06a5f158-328b-11e6-a7cf-80090e01a414 15_76152078_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 76152078 AT A 300 PASS UBE2Q2 Del intronic 1 6 MSH6 child 15_76152078_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 06b62464-328c-11e6-b43c-7ec36f39e758 16_27927251_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 27927251 CT C 360 PASS GSG1L Del intronic 1 7 MSH6 child 16_27927251_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 06b815f4-3290-11e6-9d97-efe56f39e758 4_94337409_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 94337409 TA T 300 PASS GRID2 Del intronic 1 8 MSH6 child 4_94337409_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 06b8bd80-3275-11e6-b2ab-fba69cdf095d X_44593716_TGT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA X 44593716 TG T 300 PASS - Del - 1 1 NUDT1 child X_44593716_TGT_NUDT1 1 1 0 - 0 G None 06d31c1a-3285-11e6-9daa-026ea2c71c31 14_83046179_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 83046179 AT A 540 PASS - Del - 1 8 MSH6 child 14_83046179_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 06d511fa-3276-11e6-a862-bc9becf1e924 1_243601016_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 243601016 AT A 480 PASS SDCCAG8 Del intronic 1 5 MSH6 child 1_243601016_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 06d83da4-3289-11e6-bf15-aeb06f39e758 6_35816916_AAAACA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 35816916 AAAAC A 600 PASS SRPK1 Del intronic 4 4 EXO1 child 6_35816916_AAAACA_EXO1 4 4 4 AAAC 3 AAAC Repeat-mediated 06d8e80a-3255-11e6-a304-347a7872c165 1_94325907_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 94325907 GA G 710 PASS - Del - 1 8 MSH6 child 1_94325907_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 06d935ac-3283-11e6-b309-dd03987b3f23 15_75641369_GAGCAGTGCCTACCGCATCTCAGCTTCAGCCCGCGGCAAGGAGCTGCGCCTGATACTGAGCCCTCTGCCTGGGGCCCAGCCCCAACAGGAGCCACTGGCCCTGGTCTTCCGCTTCGGCATGTCCGGCTCTTTTCAGCTGGTGCCCCGCGAGGAGCTGCCACGCCATGCCCACCTGCGCTTTTAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 15 75641369 GAGCAGTGCCTACCGCATCTCAGCTTCAGCCCGCGGCAAGGAGCTGCGCCTGATACTGAGCCCTCTGCCTGGGGCCCAGCCCCAACAGGAGCCACTGGCCCTGGTCTTCCGCTTCGGCATGTCCGGCTCTTTTCAGCTGGTGCCCCGCGAGGAGCTGCCACGCCATGCCCACCTGCGCTTTTA G 540 PASS NEIL1 Del frameshift 182 1 NEIL1 parent 15_75641369_GAGCAGTGCCTACCGCATCTCAGCTTCAGCCCGCGGCAAGGAGCTGCGCCTGATACTGAGCCCTCTGCCTGGGGCCCAGCCCCAACAGGAGCCACTGGCCCTGGTCTTCCGCTTCGGCATGTCCGGCTCTTTTCAGCTGGTGCCCCGCGAGGAGCTGCCACGCCATGCCCACCTGCGCTTTTAG_NEIL1 182 >=10 0 - 0 - None 06e2e870-328f-11e6-bfa2-581f0e01a414 7_138830179_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 138830179 GT G 300 PASS TTC26 Del intronic 1 7 MSH6 child 7_138830179_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 06e72942-3273-11e6-9e18-3a69671699ea 10_44582787_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 44582787 TA T 660 PASS - Del - 1 8 MSH6 child 10_44582787_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 06e80fb8-3275-11e6-8889-c85efc77b11e 4_75158537_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 75158537 AT A 300 PASS MTHFD2L Del intronic 1 9 MSH6 parent 4_75158537_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 06e846d6-3293-11e6-8b9f-eea73adbad45 3_173913588_ACA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 173913588 AC A 360 PASS NLGN1 Del intronic 1 1 NEIL1 child 3_173913588_ACA_NEIL1 1 1 0 - 0 C None 06ed52f0-3277-11e6-998e-ba48fa52e078 8_98869463_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 98869463 GA G 660 PASS LAPTM4B Del downstream 1 4 MSH6 child 8_98869463_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 06ee5bcc-328c-11e6-b43c-7ec36f39e758 16_27995878_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 27995878 GT G 720 PASS GSG1L Del intronic 1 8 MSH6 child 16_27995878_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 06f06abc-3281-11e6-884f-bffbf121c733 19_41275416_TGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCATCTCCAAACAAAAAACAACCTAGGCTGGGCCAGGCACAGGGGCTCACACCTGTAATCCCAGCGCTTTGGGAAGCTGAGGTGGGTGGAACACTTCAGATCAAGAGTACGAGACCATCCTGGCCAACATGCTGAAACACTCTCTCTACTAAAAATACAACAACAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACCCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCATTCGGGAGGTGGAGCTTGCTGTGAGCCGAGATCGCT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 19 41275416 TGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCATCTCCAAACAAAAAACAACCTAGGCTGGGCCAGGCACAGGGGCTCACACCTGTAATCCCAGCGCTTTGGGAAGCTGAGGTGGGTGGAACACTTCAGATCAAGAGTACGAGACCATCCTGGCCAACATGCTGAAACACTCTCTCTACTAAAAATACAACAACAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACCCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCATTCGGGAGGTGGAGCTTGCTGTGAGCCGAGATCGC T 300 PASS SNRPA Del downstream 442 1 FANCC child 19_41275416_TGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCATCTCCAAACAAAAAACAACCTAGGCTGGGCCAGGCACAGGGGCTCACACCTGTAATCCCAGCGCTTTGGGAAGCTGAGGTGGGTGGAACACTTCAGATCAAGAGTACGAGACCATCCTGGCCAACATGCTGAAACACTCTCTCTACTAAAAATACAACAACAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACCCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCATTCGGGAGGTGGAGCTTGCTGTGAGCCGAGATCGCT_FANCC 442 >=10 14 GCCACTGCACTCCA 0 - Microhomology-mediated 070093ce-3286-11e6-9e78-7d3e51c54cdd 2_151567854_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 151567854 AT A 660 PASS - Del - 1 6 EXO1 child 2_151567854_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 07044e80-329d-11e6-94ca-0aaecc638e3d X_10115883_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 10115883 GA G 600 PASS WWC3 Del downstream 1 8 MSH6 child X_10115883_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0706402c-328f-11e6-bfa2-581f0e01a414 7_138859786_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 138859786 GA G 480 PASS TTC26 Del intronic 1 9 MSH6 child 7_138859786_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 0709cf40-3275-11e6-bb68-f04e3cfdbd24 1_219128547_ATA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 1 219128547 AT A 420 PASS - Del - 1 7 NUDT1 child 1_219128547_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated 070aabba-3291-11e6-b77d-2eef6f39e758 6_33556265_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 33556265 CT C 480 PASS GGNBP1 Del intronic 1 9 MSH6 child 6_33556265_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 070cdbde-3281-11e6-9fd8-b56f2aaffa45 13_47825763_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 13 47825763 AT A 480 PASS - Del - 1 7 POLE child 13_47825763_ATA_POLE 1 1 1 T 6 T Repeat-mediated 0728d44c-328b-11e6-a653-2591e7d0bdd7 1_57986259_GAG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 1 57986259 GA G 540 PASS DAB1 Del intronic 1 7 POLM child 1_57986259_GAG_POLM 1 1 1 A 6 A Repeat-mediated 072a29ae-329b-11e6-aca6-b39fcc638e3d 2_82808514_CTTGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 82808514 CTTG C 1020 PASS - Del - 3 2 MSH6 child 2_82808514_CTTGC_MSH6 3 3 3 TTG 1 TTG Repeat-mediated 072dfa44-3259-11e6-8cd9-139b7872c165 3_120578074_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 120578074 AT A 600 PASS - Del - 1 7 MSH6 child 3_120578074_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 073335f8-3287-11e6-a7ff-5779a178171f 10_91485581_GTG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 91485581 GT G 300 PASS KIF20B Del intronic 1 9 FANCC child 10_91485581_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 0733e26e-329b-11e6-8d0f-075325c9da85 14_86338399_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 86338399 CT C 900 PASS - Del - 1 8 MSH6 child 14_86338399_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 073fa394-3285-11e6-9170-b6936f39e758 12_93760792_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 93760792 AT A 420 PASS - Del - 1 9 EXO1 child 12_93760792_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 0744e584-3271-11e6-a539-0e5542c4520d 7_150512802_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 150512802 AC A 360 PASS - Del - 1 1 MSH6 child 7_150512802_ACA_MSH6 1 1 0 - 0 C None 07475814-327b-11e6-ab1d-16d9ecf1e924 20_15338619_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 15338619 A AT 540 PASS MACROD2 Ins intronic 1 7 MSH6 child 20_15338619_AAT_MSH6 1 1 - - - - Ins 074e4110-328a-11e6-a100-84090e01a414 18_52540798_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 52540798 CT C 360 PASS RAB27B Del intronic 1 9 MSH6 child 18_52540798_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 074f14ea-3277-11e6-a5d7-eb6be7d0bdd7 6_4343020_CAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 6 4343020 CA C 720 PASS RP3-527G5.1 Del downstream 1 8 EXO1 child 6_4343020_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 075216e4-328c-11e6-8770-3e160e01a414 9_26863336_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 26863336 GA G 480 PASS CAAP1 Del intronic 1 8 MSH6 child 9_26863336_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 075f0072-3276-11e6-83cd-a472a178171f 4_68964022_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 68964022 CA C 540 PASS TMPRSS11F Del intronic 1 9 MSH6 child 4_68964022_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0766164e-329b-11e6-b549-1e5325c9da85 10_72104284_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 72104284 TA T 300 PASS LRRC20 Del intronic 1 9 MSH6 child 10_72104284_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0768608a-3272-11e6-9850-b83e75253f64 12_81035643_ACTA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 81035643 ACT A 300 PASS PTPRQ Del intronic 2 9 FANCC child 12_81035643_ACTA_FANCC 2 2 2 CT 8 CT Repeat-mediated 076a131e-3298-11e6-800c-01f9d8b4fa2c 5_72045687_AAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 5 72045687 A AT 420 PASS CTC-347C20.1 Ins intronic 1 0 NUDT1 child 5_72045687_AAT_NUDT1 1 1 - - - - Ins 076fb9fa-3328-11e6-868e-d16670cce0de 6_73743195_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 73743195 TA T 540 PASS KCNQ5 Del intronic 1 3 EXO1 child 6_73743195_TAT_EXO1 1 1 1 A 2 A Repeat-mediated 0771e334-3296-11e6-b0f9-fcf7d8b4fa2c X_82145893_CAC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA X 82145893 CA C 360 PASS - Del - 1 8 NUDT1 child X_82145893_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 0778d898-3290-11e6-b97d-a8b305ad5bc4 20_59298903_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 59298903 CA C 480 PASS - Del - 1 9 MSH6 child 20_59298903_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 078e50ac-328a-11e6-bbaf-7c090e01a414 19_32265841_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 32265841 GA G 600 PASS - Del - 1 6 MSH6 child 19_32265841_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 0795268c-3291-11e6-b6a6-1f1e0e01a414 4_86447114_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 86447114 C CA 540 PASS ARHGAP24 Ins intronic 1 1 MSH6 child 4_86447114_CCA_MSH6 1 1 - - - - Ins 07999bcc-3282-11e6-9a0d-f803987b3f23 19_21084782_ACTA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 19 21084782 ACT A 480 PASS - Del - 2 1 NEIL1 parent 19_21084782_ACTA_NEIL1 2 2 0 - 0 - None 079c9a7a-32a0-11e6-bc66-17b4cc638e3d 8_77729472_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 77729472 GA G 420 PASS ZFHX4 Del intronic 1 9 MSH6 child 8_77729472_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 079eec60-328e-11e6-bb1e-70e16f39e758 X_16298489_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 16298489 CA C 300 PASS - Del - 1 6 MSH6 child X_16298489_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 079fc174-328b-11e6-a7cf-80090e01a414 15_76180877_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 76180877 GT G 720 PASS UBE2Q2 Del intronic 1 7 MSH6 child 15_76180877_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 07a93c16-3288-11e6-8bf5-48a538e8a824 14_94312578_AAATCAGTA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 14 94312578 AAATCAGT A 600 PASS - Del - 7 1 NUDT1 parent 14_94312578_AAATCAGTA_NUDT1 7 7 1 A 0 - Microhomology-mediated 07aa1d30-328c-11e6-ae53-96c36f39e758 15_43280790_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 43280790 AT A 600 PASS UBR1 Del intronic 1 8 MSH6 child 15_43280790_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 07b6757e-3284-11e6-a8a4-f49d69062303 7_30236385_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 7 30236385 CA C 300 PASS - Del - 1 6 FANCC child 7_30236385_CAC_FANCC 1 1 1 A 5 A Repeat-mediated 07b71ba6-3256-11e6-b4d0-327a7872c165 11_33079738_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 33079738 C CT 300 PASS TCP11L1 Ins intronic 1 7 MSH6 child 11_33079738_CCT_MSH6 1 1 - - - - Ins 07b7296e-3271-11e6-a268-b1b97872c165 15_98248382_GTTAATGTAAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 15 98248382 GTTAATGTAA G 840 PASS - Del - 9 1 POLM child 15_98248382_GTTAATGTAAG_POLM 9 9 2 TT 0 - Microhomology-mediated 07bad7ac-3272-11e6-b306-b5204b47a305 2_216253605_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 216253605 C CA 360 PASS FN1 Ins intronic 1 8 MSH6 child 2_216253605_CCA_MSH6 1 1 - - - - Ins 07cedffa-3258-11e6-a7ac-209a7872c165 22_17801732_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 17801732 T TA 360 PASS - Ins - 1 5 MSH6 child 22_17801732_TTA_MSH6 1 1 - - - - Ins 07d3893e-3293-11e6-b81f-4ee66f39e758 8_76510456_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 76510456 T TA 600 PASS - Ins - 1 8 MSH6 child 8_76510456_TTA_MSH6 1 1 - - - - Ins 07d87c18-3276-11e6-ab69-1c1607e9a829 9_114161477_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 114161477 GA G 660 PASS KIAA0368 Del intronic 1 9 MSH6 child 9_114161477_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 07e0756a-3291-11e6-9401-04ed6f39e758 3_70538537_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 70538537 CT C 300 PASS - Del - 1 8 MSH6 child 3_70538537_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 07e6eff6-3324-11e6-aad6-fc2b9a696edf 9_632856_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 632856 AT A 660 PASS KANK1 Del intronic 1 9 EXO1 child 9_632856_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 07e6fdc6-3274-11e6-acf7-070eebb8d062 6_25130515_GTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 6 25130515 GT G 420 PASS - Del - 1 9 NUDT1 child 6_25130515_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated 07e8fea0-329c-11e6-aca6-b39fcc638e3d 2_148582369_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 148582369 GA G 300 PASS - Del - 1 8 MSH6 child 2_148582369_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 07e94bee-3288-11e6-8bbd-f88da2c71c31 21_44522105_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 44522105 GA G 600 PASS U2AF1 Del intronic 1 8 MSH6 child 21_44522105_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 07fd736a-3253-11e6-b240-4005ee3c4f5d 14_56080966_AAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 14 56080966 A AT 660 PASS KTN1 Ins intronic 1 6 POLB child 14_56080966_AAT_POLB 1 1 - - - - Ins 08071a60-3293-11e6-a645-5148a178171f 14_56242166_CAC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 14 56242166 CA C 480 PASS RP11-813I20.2 Del downstream 1 9 NEIL1 child 14_56242166_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 08079f46-3278-11e6-ab69-1c1607e9a829 9_125206372_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 125206372 A AT 720 PASS - Ins - 1 7 MSH6 child 9_125206372_AAT_MSH6 1 1 - - - - Ins 080948ae-3274-11e6-abaf-4642cab49462 6_166820859_CTGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 166820859 CTG C 300 PASS RPS6KA2 Del downstream 2 2 MSH6 child 6_166820859_CTGC_MSH6 2 2 2 TG 1 TG Repeat-mediated 08179ec0-3285-11e6-96d6-e945ee3c4f5d 3_113371504_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 3 113371504 TA T 300 PASS KIAA2018 Del 3prime_UTR_variant 1 9 POLB child 3_113371504_TAT_POLB 1 1 1 A 8 A Repeat-mediated 0819eb90-3257-11e6-a0fc-e737fa52e078 2_238797989_ATCTA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 2 238797989 ATCT A 1200 PASS RAMP1 Del intronic 3 2 POLM child 2_238797989_ATCTA_POLM 3 3 3 TCT 1 TCT Repeat-mediated 0829507a-3276-11e6-9e0f-7959cab49462 7_39569500_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 39569500 GA G 360 PASS - Del - 1 7 MSH6 child 7_39569500_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 082a965a-3277-11e6-8c34-46e27872c165 5_117133960_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 117133960 CT C 420 PASS - Del - 1 9 MSH6 child 5_117133960_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 08367d1a-328d-11e6-b537-8a5c694da5d2 13_61186169_TCCT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 13 61186169 TCC T 660 PASS RNA5SP31 Del upstream 2 3 POLM child 13_61186169_TCCT_POLM 2 2 1 C 0 - Microhomology-mediated 08370f32-327e-11e6-8559-4f7ef7be831b 5_170454707_ATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 5 170454707 AT A 300 PASS RANBP17 Del intronic 1 5 FANCC parent 5_170454707_ATA_FANCC 1 1 1 T 4 T Repeat-mediated 083d30d6-3285-11e6-8b67-086ea2c71c31 1_47144982_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 47144982 CT C 608 PASS EFCAB14 Del intronic 1 8 MSH6 child 1_47144982_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 08477f0e-3272-11e6-8418-1c5942c4520d 3_193741515_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 193741515 TA T 420 PASS RP11-407B7.1 Del intronic 1 8 MSH6 child 3_193741515_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 084889bc-326d-11e6-9d68-ac9acab49462 15_41834046_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 41834046 CA C 480 PASS RPAP1 Del intronic 1 9 MSH6 child 15_41834046_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 085c5ee0-3288-11e6-a5b3-3f1ebce6aa09 7_149143651_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 149143651 GT G 420 PASS ZNF777 Del intronic 1 9 MSH6 child 7_149143651_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 0860b586-3287-11e6-817a-6b15987b3f23 8_117909517_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 8 117909517 GA G 420 PASS - Del - 1 9 NEIL1 parent 8_117909517_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 0880fe48-3275-11e6-998e-ba48fa52e078 8_2080891_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 2080891 AC A 660 PASS MYOM2 Del intronic 1 1 MSH6 child 8_2080891_ACA_MSH6 1 1 0 - 0 C None 08865c96-3255-11e6-b4d0-327a7872c165 11_101890261_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 101890261 AT A 660 PASS - Del - 1 7 MSH6 child 11_101890261_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 088c4936-329a-11e6-8d0f-075325c9da85 14_28941941_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 28941941 CT C 360 PASS - Del - 1 9 MSH6 child 14_28941941_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 088d0280-327d-11e6-aca3-49be4dc77248 16_70489041_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 16 70489041 CT C 600 PASS FUK Del intronic 1 7 NUDT1 child 16_70489041_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 08b2271a-3271-11e6-a17f-de771565c797 X_29462480_GAAAGAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA X 29462480 GAAAGA G 300 PASS IL1RAPL1 Del intronic 5 3 POLM child X_29462480_GAAAGAG_POLM 5 5 5 AAAGA 2 AAAGA Repeat-mediated 08bcaee6-3321-11e6-9ce3-f20142c4520d 11_76675747_GGTCTGAAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 11 76675747 GGTCTGAA G 840 PASS ACER3 Del intronic 7 1 CHK2 child 11_76675747_GGTCTGAAG_CHK2 7 7 2 GT 0 - Microhomology-mediated 08c24bec-328d-11e6-b6a6-1f1e0e01a414 4_37585626_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 37585626 AT A 420 PASS C4orf19 Del upstream 1 7 MSH6 child 4_37585626_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 08c2c096-3287-11e6-83c9-bcc47d6a9fc7 20_45680696_TCT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 20 45680696 TC T 840 PASS EYA2 Del intronic 1 6 POLB child 20_45680696_TCT_POLB 1 1 1 C 5 C Repeat-mediated 08c70d6e-3290-11e6-aaa2-31b34430f757 4_72786520_TGTCAAATATCCATATTTTATTAATGATGT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 4 72786520 TGTCAAATATCCATATTTTATTAATGATG T 540 PASS - Del - 28 1 POLE child 4_72786520_TGTCAAATATCCATATTTTATTAATGATGT_POLE 28 >=10 1 G 0 - Microhomology-mediated 08c943d6-3290-11e6-b97d-a8b305ad5bc4 20_60306220_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 60306220 CT C 360 PASS CDH4 Del intronic 1 1 MSH6 child 20_60306220_CTC_MSH6 1 1 0 - 0 T None 08ca781e-326d-11e6-acc7-e55219a91649 1_52302785_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 52302785 CA C 300 PASS NRD1 Del intronic 1 7 MSH6 child 1_52302785_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 08d263da-3286-11e6-8b2d-79a669062303 3_115624239_GAG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 3 115624239 GA G 540 PASS LSAMP Del intronic 1 8 POLE parent 3_115624239_GAG_POLE 1 1 1 A 7 A Repeat-mediated 08e51b1e-328c-11e6-aff5-85090e01a414 16_60358923_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 60358923 G GA 600 PASS - Ins - 1 6 MSH6 child 16_60358923_GGA_MSH6 1 1 - - - - Ins 08e9e7a6-328d-11e6-bec1-ca1d0e01a414 X_52070061_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 52070061 CA C 420 PASS - Del - 1 9 MSH6 child X_52070061_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 08eeb106-3255-11e6-9f9d-2c7a7872c165 12_100364928_TACT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 100364928 TAC T 360 PASS ANKS1B Del intronic 2 5 MSH6 child 12_100364928_TACT_MSH6 2 2 2 AC 4 AC Repeat-mediated 08faf61e-3287-11e6-b093-c9c7b0dab373 2_215859380_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 215859380 GT G 780 PASS ABCA12 Del intronic 1 8 MSH6 child 2_215859380_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 090204b0-328f-11e6-b8c3-19a5e7d0bdd7 12_121248242_GTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 12 121248242 GT G 780 PASS SPPL3 Del intronic 1 9 FANCC child 12_121248242_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 090259b4-3286-11e6-9e1f-6479a178171f 16_20866441_CAACAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 16 20866441 CAACA C 360 PASS DCUN1D3 Del 3prime_UTR_variant 4 2 FANCC child 16_20866441_CAACAC_FANCC 4 4 4 AACA 1 AACA Repeat-mediated 090e1b2a-3270-11e6-bfba-13bf4a47a305 9_405014_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 405014 C CT 420 PASS DOCK8 Ins frameshift 1 7 MSH6 child 9_405014_CCT_MSH6 1 1 - - - - Ins 0910a658-3287-11e6-adaf-064690e2c2e6 7_24655931_CAC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 7 24655931 CA C 420 PASS MPP6 Del intronic 1 8 POLE child 7_24655931_CAC_POLE 1 1 1 A 7 A Repeat-mediated 091748f8-328e-11e6-8c87-38240e01a414 22_38380091_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 38380091 CT C 360 PASS SOX10 Del intronic 1 9 MSH6 child 22_38380091_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 091f5f30-3288-11e6-8bbd-f88da2c71c31 21_44980611_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 44980611 GA G 420 PASS HSF2BP Del intronic 1 8 MSH6 child 21_44980611_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 09200cd2-3292-11e6-9230-fb250e01a414 3_62109739_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 62109739 C CT 300 PASS PTPRG Ins intronic 1 9 MSH6 child 3_62109739_CCT_MSH6 1 1 - - - - Ins 09209842-3273-11e6-94cc-1ec335cec73b 19_22734416_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 22734416 AG A 360 PASS RNU6-1179P Del upstream 1 7 MSH6 child 19_22734416_AGA_MSH6 1 1 1 G 6 G Repeat-mediated 09244fcc-3292-11e6-a9cd-ea307a852e0e 9_21503940_TAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 9 21503940 TA T 360 PASS - Del - 1 8 CHK2 child 9_21503940_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 09253a32-326e-11e6-b306-b5204b47a305 2_126206869_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 126206869 CT C 720 PASS - Del - 1 6 MSH6 child 2_126206869_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 092ae22c-3271-11e6-b923-6726694da5d2 5_114580685_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 114580685 CT C 660 PASS PGGT1B Del intronic 1 9 MSH6 child 5_114580685_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 092b6fba-3278-11e6-99c3-088c3adbad45 6_148576765_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 6 148576765 CT C 660 PASS - Del - 1 9 CHK2 child 6_148576765_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 092d0bd2-329a-11e6-bda6-065325c9da85 13_29687238_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 29687238 AT A 600 PASS MTUS2 Del intronic 1 7 MSH6 child 13_29687238_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 094df96c-3288-11e6-a284-4b89a2c71c31 4_138030049_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 138030049 CT C 480 PASS RP11-138I17.1 Del intronic 1 8 MSH6 child 4_138030049_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0952ea62-3297-11e6-9718-edf997ba1142 15_62548203_AAGA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 15 62548203 AAG A 1160 PASS - Del - 2 2 CHK2 child 15_62548203_AAGA_CHK2 2 2 2 AG 1 AG Repeat-mediated 0958c592-326d-11e6-acc7-e55219a91649 1_52387193_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 52387193 AT A 300 PASS RAB3B Del intronic 1 9 MSH6 child 1_52387193_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0959f598-326d-11e6-adc2-b7204b47a305 18_36833255_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 36833255 GA G 420 PASS LINC00669 Del intronic 1 7 MSH6 child 18_36833255_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 0963534a-3286-11e6-8e86-a8fc137bb207 8_95294741_GAG . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 8 95294741 GA G 360 PASS - Del - 1 9 FANCC child 8_95294741_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 096432dc-3255-11e6-a304-347a7872c165 1_95126194_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 95126194 TA T 780 PASS LINC01057 Del intronic 1 2 MSH6 child 1_95126194_TAT_MSH6 1 1 1 A 1 A Repeat-mediated 096649dc-3282-11e6-a2e8-f2338e4678dd 15_84179541_TGT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 15 84179541 TG T 660 PASS SH3GL3 Del intronic 1 2 EXO1 child 15_84179541_TGT_EXO1 1 1 1 G 1 G Repeat-mediated 096c58a8-3274-11e6-8418-1c5942c4520d 3_185873998_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 185873998 A AT 300 PASS DGKG Ins intronic 1 7 MSH6 child 3_185873998_AAT_MSH6 1 1 - - - - Ins 096da764-326d-11e6-adc2-b7204b47a305 18_36886188_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 36886188 TA T 540 PASS LINC00669 Del intronic 1 7 MSH6 child 18_36886188_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 096f0c18-3271-11e6-a539-0e5542c4520d 7_151170794_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 151170794 GA G 780 PASS RHEB Del intronic 1 8 MSH6 child 7_151170794_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0976bc04-3255-11e6-89d3-d29498816cf3 2_167334837_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 167334837 GA G 600 PASS SCN7A Del intronic 1 9 MSH6 child 2_167334837_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 097d0452-3290-11e6-9230-fb250e01a414 3_138788232_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 138788232 CA C 480 PASS MRPS22 Del intronic 1 8 MSH6 child 3_138788232_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 097d170c-3273-11e6-af89-7600ebb8d062 5_114587116_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 5 114587116 TA T 540 PASS PGGT1B Del intronic 1 6 NUDT1 child 5_114587116_TAT_NUDT1 1 1 1 A 5 A Repeat-mediated 097edfca-3290-11e6-9d24-ade56f39e758 7_96552186_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 96552186 GA G 600 PASS - Del - 1 9 MSH6 child 7_96552186_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 09947936-325c-11e6-8340-da9012ae24cf 6_57917903_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 57917903 C CT 1171 PASS - Ins - 1 1 MSH6 child 6_57917903_CCT_MSH6 1 1 - - - - Ins 0998f590-3254-11e6-89d3-d29498816cf3 2_55529931_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 55529931 GT G 360 PASS CCDC88A Del intronic 1 7 MSH6 child 2_55529931_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 099c5b9c-3275-11e6-9d2c-d6a1cc638e3d 18_22674868_AAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 18 22674868 A AT 420 PASS ZNF521 Ins intronic 1 8 NEIL1 child 18_22674868_AAT_NEIL1 1 1 - - - - Ins 099deed2-3291-11e6-b77d-2eef6f39e758 6_34296205_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 34296205 AT A 480 PASS NUDT3 Del intronic 1 7 MSH6 child 6_34296205_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 099f614a-3278-11e6-92d2-c259c225ee11 3_125184497_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 125184497 AT A 420 PASS SNX4 Del intronic 1 7 MSH6 child 3_125184497_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 09a1b104-3285-11e6-817a-6b15987b3f23 8_36052765_CTC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 8 36052765 CT C 420 PASS - Del - 1 9 NEIL1 parent 8_36052765_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated 09a2a914-3286-11e6-95c7-6dfa4430f757 11_33240730_AAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 11 33240730 A AG 300 PASS - Ins - 1 1 EXO1 child 11_33240730_AAG_EXO1 1 1 - - - - Ins 09aac486-325a-11e6-8cd9-139b7872c165 3_191440238_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 191440238 AT A 600 PASS - Del - 1 9 MSH6 child 3_191440238_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 09ad6354-3259-11e6-a39a-dc8512ae24cf 8_87823184_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 87823184 AT A 720 PASS RP11-386D6.2 Del intronic 1 8 MSH6 child 8_87823184_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 09b02bb2-3325-11e6-b0c6-e1e369062303 5_29309732_TTGT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 5 29309732 TTG T 360 PASS - Del - 2 8 EXO1 child 5_29309732_TTGT_EXO1 2 2 2 TG 7 TG Repeat-mediated 09b3423e-3276-11e6-8eca-83e079852e0e 11_130251591_ATGAAGCACCTGA . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 11 130251591 ATGAAGCACCTG A 540 PASS RP11-121M22.1 Del intronic 11 1 POLM child 11_130251591_ATGAAGCACCTGA_POLM 11 >=10 3 TGA 0 - Microhomology-mediated 09b88d48-3276-11e6-acb5-bbf1bbe6aa09 7_102835072_GAG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 7 102835072 GA G 268 PASS - Del - 1 7 POLB child 7_102835072_GAG_POLB 1 1 1 A 6 A Repeat-mediated 09bae334-3255-11e6-8ebc-3ef212ae24cf 15_74668207_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 74668207 CA C 420 PASS - Del - 1 9 MSH6 child 15_74668207_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 09bf94de-3290-11e6-92cf-bf2a0e01a414 6_78826767_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 78826767 GA G 360 PASS - Del - 1 7 MSH6 child 6_78826767_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 09c0ba42-3274-11e6-9e18-3a69671699ea 10_110817235_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 110817235 GA G 360 PASS - Del - 1 9 MSH6 child 10_110817235_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 09c8cd98-328a-11e6-821d-8c090e01a414 13_64135462_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 64135462 GA G 1080 PASS - Del - 1 6 MSH6 child 13_64135462_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 09d1ec7c-3274-11e6-9e18-3a69671699ea 10_110843175_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 110843175 TA T 420 PASS - Del - 1 9 MSH6 child 10_110843175_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 09d24a26-3299-11e6-bfe3-c11ec7271a47 2_233612247_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 233612247 AT A 600 PASS GIGYF2 Del intronic 1 8 CHK2 child 2_233612247_ATA_CHK2 1 1 1 T 7 T Repeat-mediated 09ddef62-3275-11e6-a5d0-4fd14a47a305 2_227579690_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 227579690 TA T 420 PASS - Del - 1 3 MSH6 child 2_227579690_TAT_MSH6 1 1 1 A 2 A Repeat-mediated 09eb7ffc-3283-11e6-9b68-79e41da8ec0e 2_203334571_GAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 203334571 GA G 300 PASS BMPR2 Del intronic 1 7 EXO1 child 2_203334571_GAG_EXO1 1 1 1 A 6 A Repeat-mediated 09f106d6-3277-11e6-a45e-d57da2c71c31 21_41150082_ACTA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 21 41150082 ACT A 540 PASS IGSF5 Del intronic 2 3 CHK2 child 21_41150082_ACTA_CHK2 2 2 2 CT 2 CT Repeat-mediated 09f1080e-329d-11e6-94ca-0aaecc638e3d X_11808012_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 11808012 AT A 600 PASS - Del - 1 6 MSH6 child X_11808012_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 09f11604-3294-11e6-b01f-c8b64430f757 6_165302225_CCAA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 6 165302225 C CAA 300 PASS - Ins - 2 0 POLE child 6_165302225_CCAA_POLE 2 2 - - - - Ins 09f4eb36-3289-11e6-8353-a446fd44d094 1_11923641_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 11923641 AT A 300 PASS NPPB Del upstream 1 9 FANCC child 1_11923641_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 09fa0666-3270-11e6-b0d5-f40b98ba1142 19_53532152_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 19 53532152 GA G 780 PASS - Del - 1 6 EXO1 parent 19_53532152_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 09fdc1f0-3277-11e6-998e-ba48fa52e078 8_99498646_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 99498646 TA T 660 PASS STK3 Del intronic 1 2 MSH6 child 8_99498646_TAT_MSH6 1 1 1 A 1 A Repeat-mediated 09fdf2fa-329b-11e6-a5cf-205325c9da85 11_73187724_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 73187724 TA T 720 PASS FAM168A Del intronic 1 9 MSH6 child 11_73187724_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0a0a2356-3325-11e6-9918-868d0322d171 7_62925424_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 7 62925424 AT A 480 PASS - Del - 1 9 EXO1 child 7_62925424_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 0a102102-3285-11e6-817a-6b15987b3f23 8_36647997_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 8 36647997 GA G 840 PASS KCNU1 Del intronic 1 9 NEIL1 parent 8_36647997_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 0a1d91c4-326d-11e6-9f48-94df41c4520d 12_33639685_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 33639685 CT C 300 PASS - Del - 1 6 MSH6 child 12_33639685_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 0a23bac6-326e-11e6-9793-9a8fb0dab373 13_20434613_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 20434613 T TA 360 PASS ZMYM5 Ins intronic 1 1 MSH6 child 13_20434613_TTA_MSH6 1 1 - - - - Ins 0a28e0d6-3274-11e6-946d-9c2bc7271a47 2_86197669_TTAACT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 2 86197669 TTAAC T 480 PASS - Del - 4 1 POLB child 2_86197669_TTAACT_POLB 4 4 3 TAA 0 - Microhomology-mediated 0a2c5da4-3276-11e6-a862-bc9becf1e924 1_244527742_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 244527742 AT A 540 PASS C1orf100 Del intronic 1 9 MSH6 child 1_244527742_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0a3f2d56-3273-11e6-923c-a6d5ed3c4f5d 4_118218491_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 4 118218491 AT A 420 PASS - Del - 1 7 POLB child 4_118218491_ATA_POLB 1 1 1 T 6 T Repeat-mediated 0a407fa4-3272-11e6-b89d-b2d6b0dab373 4_170768508_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 170768508 GA G 540 PASS - Del - 1 7 MSH6 child 4_170768508_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 0a4d7dd8-326f-11e6-acc7-e55219a91649 1_217004172_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 217004172 GA G 300 PASS ESRRG Del intronic 1 9 MSH6 child 1_217004172_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 0a526494-3326-11e6-91f6-970e147bb207 6_12585257_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 12585257 TA T 300 PASS RP11-125M16.1 Del intronic 1 9 EXO1 child 6_12585257_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 0a54d1fa-3297-11e6-9baf-ebf997ba1142 14_73733517_AGTA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 14 73733517 AGT A 300 PASS PAPLN Del frameshift 2 2 CHK2 child 14_73733517_AGTA_CHK2 2 2 2 GT 1 GT Repeat-mediated 0a617970-3272-11e6-8418-1c5942c4520d 3_194302768_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 194302768 CT C 300 PASS - Del - 1 9 MSH6 child 3_194302768_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0a66d5bc-3288-11e6-b9eb-c78fa2c71c31 6_17676921_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 17676921 CA C 540 PASS NUP153 Del intronic 1 9 MSH6 child 6_17676921_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0a745812-3324-11e6-9b94-35fee9d19ece 9_107329305_CTC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 9 107329305 CT C 420 PASS OR13C8 Del upstream 1 7 POLE child 9_107329305_CTC_POLE 1 1 1 T 6 T Repeat-mediated 0a829794-3273-11e6-aa3b-ca60a178171f 13_60495612_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 60495612 GA G 480 PASS DIAPH3 Del intronic 1 8 MSH6 child 13_60495612_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0a845d80-3292-11e6-b77d-2eef6f39e758 6_105591549_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 105591549 AT A 480 PASS - Del - 1 7 MSH6 child 6_105591549_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0a880218-327a-11e6-92d2-c259c225ee11 3_62723632_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 62723632 C CT 420 PASS CADPS Ins intronic 1 8 MSH6 child 3_62723632_CCT_MSH6 1 1 - - - - Ins 0a8a86c6-3259-11e6-8cd9-139b7872c165 3_121616216_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 121616216 CT C 600 PASS SLC15A2 Del intronic 1 8 MSH6 child 3_121616216_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0a9a0ce6-3276-11e6-a3dd-600b4ec77248 2_230877745_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 2 230877745 TA T 480 PASS FBXO36 Del 3prime_UTR_variant 1 7 EXO1 child 2_230877745_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 0a9f7d1a-3272-11e6-9eec-5017987b3f23 10_106458396_CATAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 10 106458396 CATA C 600 PASS SORCS3 Del intronic 3 1 POLB child 10_106458396_CATAC_POLB 3 3 2 AT 0 - Microhomology-mediated 0aa1ed4c-3287-11e6-8b67-086ea2c71c31 1_236428144_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 236428144 CA C 480 PASS ERO1LB Del intronic 1 9 MSH6 child 1_236428144_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0ab26da8-3254-11e6-89d3-d29498816cf3 2_55752422_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 55752422 TA T 720 PASS CCDC104 Del intronic 1 8 MSH6 child 2_55752422_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 0ab2ede4-32a1-11e6-aea7-956725c9da85 3_172772533_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 172772533 CT C 480 PASS SPATA16 Del intronic 1 9 MSH6 child 3_172772533_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0ab81d04-3270-11e6-9068-b49eeab8d062 14_98701406_TAAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 14 98701406 TAA T 660 PASS - Del - 2 4 NUDT1 child 14_98701406_TAAT_NUDT1 2 2 2 AA 2 A Repeat-mediated 0ac4b8e2-3285-11e6-8b67-086ea2c71c31 1_48166208_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 48166208 CT C 480 PASS RP11-543D5.1 Del intronic 1 9 MSH6 child 1_48166208_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0ad03abe-3271-11e6-b5b8-e0c24a47a305 X_109424526_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 109424526 TA T 360 PASS TMEM164 Del downstream 1 6 MSH6 child X_109424526_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 0ad1ef34-3286-11e6-a0a8-096ea2c71c31 11_16322972_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 16322972 G GT 840 PASS SOX6 Ins intronic 1 1 MSH6 child 11_16322972_GGT_MSH6 1 1 - - - - Ins 0ad39c7a-32a0-11e6-bc66-17b4cc638e3d 8_78688715_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 78688715 AT A 420 PASS - Del - 1 5 MSH6 child 8_78688715_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 0ad45238-3321-11e6-ae98-b2b5fa52e078 2_37100791_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 37100791 TA T 360 PASS STRN Del intronic 1 8 EXO1 child 2_37100791_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 0ad5785c-329a-11e6-8d0f-075325c9da85 14_29831790_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 29831790 GT G 840 PASS RP11-562L8.1 Del intronic 1 8 MSH6 child 14_29831790_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 0ad58dce-3286-11e6-a1ac-fd6da2c71c31 13_68709678_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 68709678 C CT 300 PASS - Ins - 1 5 MSH6 child 13_68709678_CCT_MSH6 1 1 - - - - Ins 0ad5e79e-32a2-11e6-bc66-17b4cc638e3d 8_42202329_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 42202329 C CA 480 PASS POLB Ins intronic 1 7 MSH6 child 8_42202329_CCA_MSH6 1 1 - - - - Ins 0ad8a076-328c-11e6-b8e6-91c36f39e758 11_32604009_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 32604009 CT C 480 PASS EIF3M Del upstream 1 8 MSH6 child 11_32604009_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0adde29e-3254-11e6-a304-347a7872c165 1_28528601_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 28528601 CA C 300 PASS DNAJC8 Del intronic 1 9 MSH6 child 1_28528601_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0ae58256-3290-11e6-b97d-a8b305ad5bc4 20_61783861_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 61783861 GA G 540 PASS - Del - 1 5 MSH6 child 20_61783861_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 0ae628f8-3288-11e6-8404-8e1fbce6aa09 8_82434137_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 82434137 AT A 360 PASS FABP12 Del downstream 1 7 MSH6 child 8_82434137_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0ae66f3a-3273-11e6-81c8-19f506e9a829 2_156941336_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 156941336 CT C 420 PASS - Del - 1 8 FANCC child 2_156941336_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 0aeca180-3290-11e6-bec1-ca1d0e01a414 X_66187503_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 66187503 T TA 540 PASS - Ins - 1 6 MSH6 child X_66187503_TTA_MSH6 1 1 - - - - Ins 0af1bba6-3291-11e6-b81f-4ee66f39e758 8_90915404_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 90915404 TA T 480 PASS OSGIN2 Del intronic 1 9 MSH6 child 8_90915404_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0b152174-328a-11e6-815f-e4cd191589db 14_90165774_TCTCTGGTGTCTATTTAAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 14 90165774 TCTCTGGTGTCTATTTAA T 360 PASS - Del - 17 1 FANCC child 14_90165774_TCTCTGGTGTCTATTTAAT_FANCC 17 >=10 1 C 0 - Microhomology-mediated 0b16da32-328a-11e6-bf15-aeb06f39e758 6_134310328_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 134310328 AT A 300 PASS SLC2A12 Del 3prime_UTR_variant 1 8 EXO1 child 6_134310328_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 0b27958a-3275-11e6-a6a8-746da178171f 4_63378924_CAC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 4 63378924 CA C 480 PASS - Del - 1 8 NEIL1 child 4_63378924_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated 0b34b8b6-328c-11e6-bb2d-24a320e7b7a8 X_108277080_TAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA X 108277080 TA T 480 PASS - Del - 1 6 POLE child X_108277080_TAT_POLE 1 1 1 A 5 A Repeat-mediated 0b372d18-328b-11e6-8459-82090e01a414 12_104725254_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 104725254 CT C 300 PASS TXNRD1 Del intronic 1 9 MSH6 child 12_104725254_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0b3d2f8e-3276-11e6-8a72-7c4784482639 22_19583568_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 22 19583568 GT G 780 PASS - Del - 1 8 EXO1 child 22_19583568_GTG_EXO1 1 1 1 T 7 T Repeat-mediated 0b51502a-327d-11e6-8020-f3a03adbad45 19_57525037_TCT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 19 57525037 TC T 600 PASS - Del - 1 1 NUDT1 child 19_57525037_TCT_NUDT1 1 1 0 - 0 C None 0b518b72-328b-11e6-8001-44b47098ee92 1_146757540_ATA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 1 146757540 AT A 420 PASS CHD1L Del intronic 1 8 NUDT1 child 1_146757540_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 0b53cc7e-3273-11e6-b5b8-e0c24a47a305 X_150119960_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 150119960 C CA 300 PASS RNU6-383P Ins downstream 1 6 MSH6 child X_150119960_CCA_MSH6 1 1 - - - - Ins 0b53cd82-3287-11e6-afcf-0311bce6aa09 9_136626189_GCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 136626189 GC G 420 PASS VAV2 Del downstream 1 6 MSH6 child 9_136626189_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 0b652ad6-329c-11e6-a0ea-135325c9da85 15_85562810_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 85562810 GT G 480 PASS PDE8A Del intronic 1 8 MSH6 child 15_85562810_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 0b657e8a-328f-11e6-919e-92c36f39e758 2_235560979_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 235560979 CT C 540 PASS - Del - 1 9 MSH6 child 2_235560979_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0b73072a-328b-11e6-a80b-87090e01a414 11_110101977_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 110101977 TA T 360 PASS RDX Del 3prime_UTR_variant 1 9 MSH6 child 11_110101977_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0b7a0336-329a-11e6-ae71-0c5325c9da85 1_11824183_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 11824183 AT A 540 PASS C1orf167 Del intronic 1 3 MSH6 child 1_11824183_ATA_MSH6 1 1 1 T 2 T Repeat-mediated 0b828da0-328e-11e6-8f31-bfe16f39e758 9_10140716_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 10140716 GA G 429 PASS - Del - 1 8 MSH6 child 9_10140716_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0b8e405c-3287-11e6-ba61-6079a178171f 2_89919528_CAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 89919528 CA C 344 PASS - Del - 1 9 FANCC child 2_89919528_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 0b8e75a2-3252-11e6-96f0-d07d12ae24cf 15_41972043_GTG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 15 41972043 GT G 720 PASS MGA Del intronic 1 9 POLB child 15_41972043_GTG_POLB 1 1 1 T 8 T Repeat-mediated 0b90e6e0-3287-11e6-9efa-64528e4678dd 6_45169725_AAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 6 45169725 A AT 960 PASS SUPT3H Ins intronic 1 3 EXO1 child 6_45169725_AAT_EXO1 1 1 - - - - Ins 0b9279c0-3286-11e6-9546-b5936f39e758 15_94584965_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 94584965 TA T 360 PASS CTD-2643K12.3 Del intronic 1 9 EXO1 child 15_94584965_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 0b93a600-3278-11e6-92d2-c259c225ee11 3_125428323_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 125428323 TG T 900 PASS - Del - 1 8 MSH6 child 3_125428323_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 0b9ef49a-328e-11e6-a278-48230e01a414 21_40998530_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 40998530 GT G 480 PASS B3GALT5 Del intronic 1 9 MSH6 child 21_40998530_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 0b9fa6c6-328c-11e6-b8e6-91c36f39e758 11_32682205_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 32682205 TA T 660 PASS CCDC73 Del intronic 1 9 MSH6 child 11_32682205_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0bb3c3ce-329e-11e6-91d0-016425c9da85 7_35539765_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 35539765 GT G 480 PASS AC007652.1 Del intronic 1 8 MSH6 child 7_35539765_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 0bb9e5a4-3273-11e6-bfb2-2749c225ee11 12_50551501_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 50551501 CA C 660 PASS CERS5 Del intronic 1 9 MSH6 child 12_50551501_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0bbdbfb2-32a0-11e6-a04f-c66a25c9da85 6_44074174_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 44074174 CT C 360 PASS - Del - 1 8 MSH6 child 6_44074174_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0bc28e42-3346-11e6-b5ef-938f38e8a824 13_65720618_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 13 65720618 AT A 660 PASS - Del - 1 9 FANCC child 13_65720618_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 0bf1ddf0-3288-11e6-a284-4b89a2c71c31 4_138860084_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 138860084 CA C 360 PASS - Del - 1 8 MSH6 child 4_138860084_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0bfd1d28-3288-11e6-8404-8e1fbce6aa09 8_82742648_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 82742648 CA C 300 PASS SNX16 Del intronic 1 8 MSH6 child 8_82742648_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0c042b78-3291-11e6-92cf-bf2a0e01a414 6_145766314_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 145766314 GT G 420 PASS - Del - 1 9 MSH6 child 6_145766314_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 0c0d4eb0-328c-11e6-ae53-96c36f39e758 15_44245100_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 44245100 GA G 720 PASS FRMD5 Del intronic 1 7 MSH6 child 15_44245100_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 0c12e160-3271-11e6-b923-6726694da5d2 5_115233859_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 115233859 GA G 360 PASS AP3S1 Del intronic 1 7 MSH6 child 5_115233859_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 0c1b13dc-3274-11e6-b332-88ba7d6a9fc7 15_76819379_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 76819379 AT A 300 PASS SCAPER Del intronic 1 9 MSH6 child 15_76819379_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0c1d0464-3272-11e6-b799-add079852e0e 11_89993305_TAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 11 89993305 TA T 360 PASS DISC1FP1 Del intronic 1 8 FANCC child 11_89993305_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 0c1ec97c-3275-11e6-b872-fc996f39e758 8_41235523_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 8 41235523 TA T 300 PASS - Del - 1 9 NEIL1 child 8_41235523_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 0c201872-328e-11e6-919e-92c36f39e758 2_172515588_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 172515588 CT C 840 PASS - Del - 1 9 MSH6 child 2_172515588_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0c21c686-3270-11e6-819e-9d1aa20b69d5 11_109026875_GTTCG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 109026875 GTTC G 600 PASS - Del - 3 2 EXO1 parent 11_109026875_GTTCG_EXO1 3 3 3 TTC 1 TTC Repeat-mediated 0c293c8e-3277-11e6-83cd-a472a178171f 4_144183064_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 144183064 CT C 540 PASS - Del - 1 8 MSH6 child 4_144183064_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0c33318a-3290-11e6-9230-fb250e01a414 3_139556717_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 139556717 GT G 420 PASS RP11-166D18.1 Del intronic 1 7 MSH6 child 3_139556717_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 0c338568-329a-11e6-a0ea-135325c9da85 15_25080371_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 25080371 TA T 300 PASS SNRPN Del intronic 1 7 MSH6 child 15_25080371_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0c362af6-3273-11e6-abaf-4642cab49462 6_101901074_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 101901074 CT C 720 PASS GRIK2 Del intronic 1 9 MSH6 child 6_101901074_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0c366362-3274-11e6-a5d0-4fd14a47a305 2_145699621_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 145699621 CA C 540 PASS TEX41 Del intronic 1 6 MSH6 child 2_145699621_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 0c3d4656-3322-11e6-ae98-b2b5fa52e078 2_127221335_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 127221335 CT C 300 PASS - Del - 1 9 EXO1 child 2_127221335_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 0c46f22c-326f-11e6-8a0d-fc4238e8a824 1_37020361_TTGT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 1 37020361 TTG T 600 PASS - Del - 2 4 POLM child 1_37020361_TTGT_POLM 2 2 2 TG 3 TG Repeat-mediated 0c4d7f9a-329a-11e6-ae71-0c5325c9da85 1_11945063_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 11945063 AT A 660 PASS - Del - 1 7 MSH6 child 1_11945063_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0c5257ca-3283-11e6-bb60-c21d694da5d2 6_18053715_GTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 6 18053715 GT G 960 PASS - Del - 1 8 NEIL1 child 6_18053715_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated 0c55bb82-328c-11e6-b805-77090e01a414 2_186846753_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 186846753 AT A 420 PASS - Del - 1 9 MSH6 child 2_186846753_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0c5a3f84-3284-11e6-b14f-ffbe2daed38e X_98873377_GTG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA X 98873377 GT G 480 PASS - Del - 1 3 POLB child X_98873377_GTG_POLB 1 1 1 T 2 T Repeat-mediated 0c66fc32-3285-11e6-8b67-086ea2c71c31 1_49098421_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 49098421 GA G 420 PASS AGBL4 Del intronic 1 8 MSH6 child 1_49098421_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0c6f4c48-3276-11e6-8c58-fa31b51afd22 8_48900169_TGATGAATCAAGTGCAGTGTCTGCAAAATATCT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 8 48900169 TGATGAATCAAGTGCAGTGTCTGCAAAATATC T 480 PASS - Del - 31 1 FANCC child 8_48900169_TGATGAATCAAGTGCAGTGTCTGCAAAATATCT_FANCC 31 >=10 0 - 0 - None 0c7bec2c-3321-11e6-94fd-ff28038949d4 15_71007930_GTG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 15 71007930 GT G 1200 PASS UACA Del intronic 1 5 CHK2 parent 15_71007930_GTG_CHK2 1 1 1 T 4 T Repeat-mediated 0c7e60ee-3275-11e6-998e-ba48fa52e078 8_3204565_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 3204565 TA T 600 PASS CSMD1 Del intronic 1 4 MSH6 child 8_3204565_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 0c8156a0-3257-11e6-885f-d1947872c165 4_62450276_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 62450276 AT A 780 PASS LPHN3 Del intronic 1 7 MSH6 child 4_62450276_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0c89db14-3274-11e6-a5d0-4fd14a47a305 2_145831523_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 145831523 CT C 360 PASS TEX41 Del nc_variant 1 8 MSH6 child 2_145831523_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0c8b63aa-3254-11e6-a03d-40f212ae24cf 18_36327125_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 36327125 GA G 720 PASS - Del - 1 9 MSH6 child 18_36327125_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 0c924a52-3291-11e6-824e-0fb44430f757 7_131157497_CAGGAGATCGAGACCATCCTGGCTAATGCGATGC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 7 131157497 CAGGAGATCGAGACCATCCTGGCTAATGCGATG C 480 PASS MKLN1 Del intronic 32 1 POLE child 7_131157497_CAGGAGATCGAGACCATCCTGGCTAATGCGATGC_POLE 32 >=10 1 A 0 - Microhomology-mediated 0c930f58-3289-11e6-9035-7296cdacbbbf 2_14139360_GCAATCAGAGAATTCTATGCCTCTGGGTTTATCATTAAATTTGACCCCTTAATAAAAATGGTTATTAATTCTTAAATGAAAAAAAGAATATATAGTCATTATATATATACATGCACCTAACATAAGAGTAGCTAAGATATAAAGCAACTATAAACAAATCTGATGGGAGAAATAGACAAAAATACAATAATAATAGGGAAATTCAGTACCTCACTTTTAAAAATAGATTGATCACCCAGACCTCACTTTTAAAAATAGATTGATCACCCAGACAATATTACTAAGGAAATATTGGATTTGAACTACACTCTAGACG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 2 14139360 GCAATCAGAGAATTCTATGCCTCTGGGTTTATCATTAAATTTGACCCCTTAATAAAAATGGTTATTAATTCTTAAATGAAAAAAAGAATATATAGTCATTATATATATACATGCACCTAACATAAGAGTAGCTAAGATATAAAGCAACTATAAACAAATCTGATGGGAGAAATAGACAAAAATACAATAATAATAGGGAAATTCAGTACCTCACTTTTAAAAATAGATTGATCACCCAGACCTCACTTTTAAAAATAGATTGATCACCCAGACAATATTACTAAGGAAATATTGGATTTGAACTACACTCTAGAC G 420 PASS LINC00276 Del intronic 314 1 FANCC child 2_14139360_GCAATCAGAGAATTCTATGCCTCTGGGTTTATCATTAAATTTGACCCCTTAATAAAAATGGTTATTAATTCTTAAATGAAAAAAAGAATATATAGTCATTATATATATACATGCACCTAACATAAGAGTAGCTAAGATATAAAGCAACTATAAACAAATCTGATGGGAGAAATAGACAAAAATACAATAATAATAGGGAAATTCAGTACCTCACTTTTAAAAATAGATTGATCACCCAGACCTCACTTTTAAAAATAGATTGATCACCCAGACAATATTACTAAGGAAATATTGGATTTGAACTACACTCTAGACG_FANCC 314 >=10 3 CAA 0 - Microhomology-mediated 0c9e8f40-3284-11e6-90e0-6a2c36fc2f7d X_86089079_ACTA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA X 86089079 ACT A 300 PASS DACH2 Del downstream 2 3 NUDT1 child X_86089079_ACTA_NUDT1 2 2 2 CT 2 CT Repeat-mediated 0ca6c6fa-3276-11e6-88b6-40832aaffa45 1_227345353_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 227345353 AT A 480 PASS CDC42BPA Del intronic 1 9 EXO1 child 1_227345353_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 0ca8c648-3321-11e6-842f-4d64694da5d2 19_14388771_TCCCACCGACCACCCAAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 19 14388771 TCCCACCGACCACCCAA T 420 PASS CTD-2189E23.1 Del intronic 16 1 EXO1 child 19_14388771_TCCCACCGACCACCCAAT_EXO1 16 >=10 0 - 0 - None 0caa5ed2-3285-11e6-a1ac-fd6da2c71c31 13_78810941_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 78810941 TA T 660 PASS - Del - 1 8 MSH6 child 13_78810941_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 0cac6ab2-3292-11e6-824e-0fb44430f757 7_57596500_CCTTTTAAA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 7 57596500 C CTTTTAAA 900 PASS - Ins - 7 0 POLE child 7_57596500_CCTTTTAAA_POLE 7 7 - - - - Ins 0caf51b4-3328-11e6-868e-d16670cce0de 6_74815696_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 74815696 CA C 720 PASS RP11-554D15.1 Del intronic 1 8 EXO1 child 6_74815696_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 0cb1fd86-3285-11e6-b996-7c3e51c54cdd 14_85129903_ATTTCCAATTTA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 14 85129903 ATTTCCAATTT A 540 PASS - Del - 10 1 EXO1 child 14_85129903_ATTTCCAATTTA_EXO1 10 >=10 1 T 0 - Microhomology-mediated 0cb52288-326f-11e6-9fba-41ebd8b4fa2c 11_90532715_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 90532715 TA T 300 PASS DISC1FP1 Del intronic 1 9 MSH6 child 11_90532715_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0cb67a54-3290-11e6-9432-c0e56f39e758 5_103041913_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 103041913 CT C 780 PASS - Del - 1 7 MSH6 child 5_103041913_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 0cb982f4-328a-11e6-8eee-76090e01a414 10_55033323_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 55033323 CA C 300 PASS - Del - 1 8 MSH6 child 10_55033323_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0cc34ac6-3282-11e6-944d-0704987b3f23 13_47672342_GTG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 13 47672342 GT G 780 PASS - Del - 1 8 NEIL1 parent 13_47672342_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated 0cca50d4-3285-11e6-ac39-4c9efc1f1540 20_42187493_CAGC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 20 42187493 CAG C 540 PASS SGK2 Del upstream 2 3 FANCC child 20_42187493_CAGC_FANCC 2 2 2 AG 2 AG Repeat-mediated 0ccbb900-3254-11e6-8a2a-3af212ae24cf 16_29957216_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 29957216 AT A 300 PASS TMEM219 Del intronic 1 9 MSH6 child 16_29957216_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0ccd643e-326e-11e6-9f48-94df41c4520d 12_112138422_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 112138422 AT A 300 PASS ACAD10 Del intronic 1 6 MSH6 child 12_112138422_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 0cd5e93e-3290-11e6-9401-04ed6f39e758 3_4996426_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 4996426 TC T 480 PASS - Del - 1 1 MSH6 child 3_4996426_TCT_MSH6 1 1 0 - 0 C None 0ce2e844-3288-11e6-a8ac-a28ea2c71c31 3_42634359_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 42634359 AC A 480 PASS SEC22C Del intronic 1 8 MSH6 child 3_42634359_ACA_MSH6 1 1 1 C 7 C Repeat-mediated 0ce76742-3275-11e6-a79c-38c67d6a9fc7 19_50262965_ACCTGCAGTCA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 19 50262965 ACCTGCAGTC A 419 PASS TSKS Del intronic 9 1 NEIL1 child 19_50262965_ACCTGCAGTCA_NEIL1 9 9 2 CC 0 - Microhomology-mediated 0cf0889e-328f-11e6-9c89-8d090e01a414 1_75486391_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 75486391 C CA 480 PASS - Ins - 1 7 MSH6 child 1_75486391_CCA_MSH6 1 1 - - - - Ins 0cfd2ebc-3255-11e6-9f9d-2c7a7872c165 12_101398669_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 101398669 CA C 840 PASS ANO4 Del intronic 1 6 MSH6 child 12_101398669_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 0d09c284-3292-11e6-9809-b7370d016689 13_69238493_TGCACGAAGACAAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 13 69238493 TGCACGAAGACAA T 420 PASS - Del - 12 1 NUDT1 child 13_69238493_TGCACGAAGACAAT_NUDT1 12 >=10 3 GCA 0 - Microhomology-mediated 0d0ab7a0-328a-11e6-927f-cebe38e8a824 7_2284304_GGAATGGCTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 7 2284304 GGAATGGCT G 540 PASS NUDT1 Del frameshift 8 1 NUDT1 parent 7_2284304_GGAATGGCTG_NUDT1 8 8 0 - 0 - None 0d0bf24a-3321-11e6-ae0d-c299f7be831b 16_47792109_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 16 47792109 AT A 480 PASS RP11-523L20.2 Del intronic 1 4 CHK2 child 16_47792109_ATA_CHK2 1 1 1 T 3 T Repeat-mediated 0d1b9ace-3272-11e6-881e-8d938a20d9eb 15_73150629_CCTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 15 73150629 CCT C 360 PASS - Del - 2 5 CHK2 child 15_73150629_CCTC_CHK2 2 2 2 CT 4 CT Repeat-mediated 0d274310-3290-11e6-bb1e-70e16f39e758 X_141410325_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 141410325 CT C 480 PASS - Del - 1 8 MSH6 child X_141410325_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0d2d05de-3272-11e6-b89d-b2d6b0dab373 4_171357108_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 171357108 CA C 280 PASS - Del - 1 6 MSH6 child 4_171357108_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 0d2f3de2-3275-11e6-81c8-19f506e9a829 2_34852574_AAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 34852574 A AT 300 PASS AC073218.1 Ins intronic 1 9 FANCC child 2_34852574_AAT_FANCC 1 1 - - - - Ins 0d2fd59a-3270-11e6-819e-9d1aa20b69d5 11_109725472_CAC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 109725472 CA C 420 PASS - Del - 1 2 EXO1 parent 11_109725472_CAC_EXO1 1 1 1 A 1 A Repeat-mediated 0d339c4e-325b-11e6-8b28-55ad7872c165 20_33034437_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 33034437 AT A 420 PASS ITCH Del intronic 1 9 MSH6 child 20_33034437_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0d35274a-3327-11e6-91f6-970e147bb207 6_76462938_GATTTTTTTCG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 76462938 GATTTTTTTC G 300 PASS MYO6 Del intronic 9 1 EXO1 child 6_76462938_GATTTTTTTCG_EXO1 9 9 3 ATT 0 - Microhomology-mediated 0d395ef8-3270-11e6-92dd-fda8977b3f23 10_121663055_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 121663055 T TA 720 PASS SEC23IP Ins intronic 1 7 MSH6 child 10_121663055_TTA_MSH6 1 1 - - - - Ins 0d39865e-3288-11e6-a284-4b89a2c71c31 4_139375733_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 139375733 CA C 480 PASS - Del - 1 6 MSH6 child 4_139375733_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 0d4f8484-3276-11e6-8d12-f4a14430f757 4_110608723_TAGAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 4 110608723 TAGA T 600 PASS CCDC109B Del inframe 3 2 NUDT1 child 4_110608723_TAGAT_NUDT1 3 3 3 AGA 1 AGA Repeat-mediated 0d567e3a-328d-11e6-8952-77c36f39e758 10_97696509_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 97696509 TA T 840 PASS C10orf131 Del intronic 1 8 MSH6 child 10_97696509_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 0d56f2b4-328f-11e6-847e-1aa5e7d0bdd7 13_34633148_CCCA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 13 34633148 C CCA 300 PASS - Ins - 2 1 FANCC child 13_34633148_CCCA_FANCC 2 2 - - - - Ins 0d590afc-3287-11e6-adaf-064690e2c2e6 7_25842772_CTGTTC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 7 25842772 CTGTT C 720 PASS - Del - 4 1 POLE child 7_25842772_CTGTTC_POLE 4 4 2 TG 0 - Microhomology-mediated 0d5a1d3a-328b-11e6-ba61-6079a178171f 2_108899816_AAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 108899816 A AT 480 PASS - Ins - 1 5 FANCC child 2_108899816_AAT_FANCC 1 1 - - - - Ins 0d5ae63e-328b-11e6-aff5-85090e01a414 16_1411644_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 1411644 C CA 300 PASS UNKL Ins downstream 1 8 MSH6 child 16_1411644_CCA_MSH6 1 1 - - - - Ins 0d5dda0e-3292-11e6-9432-c0e56f39e758 5_61048851_TTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 61048851 T TC 420 PASS - Ins - 1 7 MSH6 child 5_61048851_TTC_MSH6 1 1 - - - - Ins 0d686f4c-326e-11e6-acc7-e55219a91649 1_145643225_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 145643225 TA T 480 PASS RNF115 Del intronic 1 9 MSH6 child 1_145643225_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0d7bd43c-328d-11e6-bec1-ca1d0e01a414 X_53656382_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 53656382 TC T 540 PASS HUWE1 Del intronic 1 8 MSH6 child X_53656382_TCT_MSH6 1 1 1 C 7 C Repeat-mediated 0d7ccf14-328c-11e6-88c1-95c36f39e758 14_51614395_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 51614395 GT G 540 PASS - Del - 1 8 MSH6 child 14_51614395_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 0d7d0fc4-3291-11e6-b81f-4ee66f39e758 8_91571746_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 91571746 AT A 360 PASS LINC00534 Del intronic 1 8 MSH6 child 8_91571746_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 0d890db0-327d-11e6-b73f-448daea0a4d2 2_60192915_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 2 60192915 TA T 420 PASS RP11-444A22.1 Del intronic 1 8 POLB parent 2_60192915_TAT_POLB 1 1 1 A 7 A Repeat-mediated 0d8a081e-3273-11e6-93da-67a49b6d3b88 14_37493845_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 14 37493845 TA T 360 PASS SLC25A21 Del intronic 1 9 EXO1 child 14_37493845_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 0d9911ca-3277-11e6-998e-ba48fa52e078 8_101056481_CGTTTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 101056481 CGTTT C 540 PASS RGS22 Del intronic 4 3 MSH6 child 8_101056481_CGTTTC_MSH6 4 4 4 GTTT 2 GTTT Repeat-mediated 0d998ef2-3286-11e6-a8ad-04770d016689 9_111474630_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 111474630 TA T 600 PASS - Del - 1 8 EXO1 child 9_111474630_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 0da60634-3275-11e6-bfd3-a6593dc9300a X_63398_ACA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA X 63398 AC A 299 PASS - Del - 1 5 EXO1 child X_63398_ACA_EXO1 1 1 1 C 4 C Repeat-mediated 0dabdc82-328c-11e6-8256-94c36f39e758 17_26503005_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 26503005 GT G 600 PASS NLK Del intronic 1 8 MSH6 child 17_26503005_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 0db2bdec-328f-11e6-919e-92c36f39e758 2_236146106_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 236146106 CA C 480 PASS - Del - 1 5 MSH6 child 2_236146106_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 0db67c86-328d-11e6-bfa2-581f0e01a414 7_22742481_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 22742481 TA T 420 PASS - Del - 1 9 MSH6 child 7_22742481_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0dbb5486-3274-11e6-b332-88ba7d6a9fc7 15_77017829_TTCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 77017829 TTC T 300 PASS SCAPER Del intronic 2 1 MSH6 child 15_77017829_TTCT_MSH6 2 2 1 T 0 - Microhomology-mediated 0dbc1764-3255-11e6-a304-347a7872c165 1_96414021_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 96414021 TA T 600 PASS - Del - 1 8 MSH6 child 1_96414021_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 0dc1da5e-3323-11e6-98e4-0c20d8fd0a58 X_18269860_CAGC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA X 18269860 CAG C 1200 PASS SCML2 Del intronic 2 2 CHK2 parent X_18269860_CAGC_CHK2 2 2 2 AG 1 AG Repeat-mediated 0dc82736-328f-11e6-bec1-ca1d0e01a414 X_145174479_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 145174479 CT C 300 PASS - Del - 1 4 MSH6 child X_145174479_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 0dd675e8-3280-11e6-ba36-88d64dc77248 7_125356906_TGT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 7 125356906 TG T 720 PASS - Del - 1 5 NUDT1 child 7_125356906_TGT_NUDT1 1 1 1 G 4 G Repeat-mediated 0dd6be0c-326e-11e6-acc7-e55219a91649 1_145707106_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 145707106 CT C 420 PASS CD160 Del upstream 1 7 MSH6 child 1_145707106_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 0de71fb4-329f-11e6-94ca-0aaecc638e3d X_89617459_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 89617459 CT C 746 PASS - Del - 1 9 MSH6 child X_89617459_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0de77802-3271-11e6-a539-0e5542c4520d 7_152239020_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 152239020 TA T 300 PASS - Del - 1 7 MSH6 child 7_152239020_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0de7adc4-3288-11e6-b32c-fd87a2c71c31 5_12925154_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 12925154 G GA 420 PASS RP11-419C19.2 Ins intronic 1 8 MSH6 child 5_12925154_GGA_MSH6 1 1 - - - - Ins 0ded04a4-32a1-11e6-a04f-c66a25c9da85 6_113308718_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 113308718 GA G 1080 PASS - Del - 1 7 MSH6 child 6_113308718_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 0defde1a-3286-11e6-a8af-066ea2c71c31 15_91161097_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 91161097 CT C 780 PASS CRTC3 Del intronic 1 9 MSH6 child 15_91161097_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0dfa61e8-3289-11e6-a8ac-a28ea2c71c31 3_140465717_ATCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 140465717 ATC A 360 PASS - Del - 2 8 MSH6 child 3_140465717_ATCA_MSH6 2 2 2 TC 7 TC Repeat-mediated 0dfbc8bc-329d-11e6-aca6-b39fcc638e3d 2_210799603_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 210799603 CA C 540 PASS UNC80 Del intronic 1 7 MSH6 child 2_210799603_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 0e0947e6-3291-11e6-9d78-ae5c38e8a824 9_116235379_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 9 116235379 TA T 480 PASS RGS3 Del intronic 1 7 FANCC child 9_116235379_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 0e107f0e-328a-11e6-a19d-3c763adbad45 4_128288328_TTTCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 128288328 TTTC T 840 PASS RP11-125O18.1 Del intronic 3 4 NUDT1 parent 4_128288328_TTTCT_NUDT1 3 3 3 TTC 3 TTC Repeat-mediated 0e17d256-3292-11e6-b717-5d42ead19ece 18_39030762_ATTTCATGA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 18 39030762 ATTTCATG A 300 PASS - Del - 7 1 NUDT1 child 18_39030762_ATTTCATGA_NUDT1 7 7 2 TT 0 - Microhomology-mediated 0e1aeeca-3277-11e6-83cd-a472a178171f 4_144601369_CTAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 144601369 CTA C 540 PASS FREM3 Del intronic 2 7 MSH6 child 4_144601369_CTAC_MSH6 2 2 2 TA 6 TA Repeat-mediated 0e20aff0-3271-11e6-b5b8-e0c24a47a305 X_110931602_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 110931602 TA T 780 PASS ALG13 Del 3prime_UTR_variant 1 7 MSH6 child X_110931602_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0e265d2c-328c-11e6-8952-77c36f39e758 10_29537131_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 29537131 CA C 540 PASS - Del - 1 7 MSH6 child 10_29537131_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 0e29ecd6-3277-11e6-8c34-46e27872c165 5_119369086_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 119369086 GT G 540 PASS - Del - 1 7 MSH6 child 5_119369086_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 0e2bebc8-328e-11e6-bec1-ca1d0e01a414 X_61923426_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 61923426 CT C 420 PASS - Del - 1 4 MSH6 child X_61923426_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 0e30139e-3291-11e6-b81f-4ee66f39e758 8_91916933_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 91916933 TA T 840 PASS NECAB1 Del intronic 1 8 MSH6 child 8_91916933_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 0e39af9e-3287-11e6-afcf-0311bce6aa09 9_137901699_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 137901699 TC T 420 PASS - Del - 1 5 MSH6 child 9_137901699_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 0e3ee950-3291-11e6-9401-04ed6f39e758 3_72351838_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 72351838 CA C 480 PASS - Del - 1 4 MSH6 child 3_72351838_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 0e446b3c-3273-11e6-b332-88ba7d6a9fc7 15_53521675_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 53521675 AT A 840 PASS - Del - 1 7 MSH6 child 15_53521675_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0e4f313a-3290-11e6-92cf-bf2a0e01a414 6_79789193_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 79789193 GA G 360 PASS PHIP Del upstream 1 9 MSH6 child 6_79789193_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 0e5735fc-3285-11e6-9e78-7d3e51c54cdd 2_78188277_CTC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 78188277 CT C 480 PASS - Del - 1 8 EXO1 child 2_78188277_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 0e5add4a-3278-11e6-bf4d-b5224ec77248 8_86969824_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 8 86969824 GT G 420 PASS - Del - 1 5 EXO1 child 8_86969824_GTG_EXO1 1 1 1 T 4 T Repeat-mediated 0e5c8fb2-3298-11e6-8dc6-b86ca178171f 6_53626929_ACA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 6 53626929 AC A 300 PASS - Del - 1 6 NEIL1 child 6_53626929_ACA_NEIL1 1 1 1 C 5 C Repeat-mediated 0e62ee4e-3292-11e6-a1ea-b9b6e7d0bdd7 11_56404125_GTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 11 56404125 GT G 360 PASS OR5AP2 Del downstream 1 7 NUDT1 child 11_56404125_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated 0e65ae0c-328a-11e6-b805-77090e01a414 2_52256513_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 52256513 CT C 360 PASS AC007682.1 Del intronic 1 9 MSH6 child 2_52256513_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0e6abdba-3286-11e6-9e78-7d3e51c54cdd 2_153251123_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 153251123 GA G 360 PASS FMNL2 Del intronic 1 9 EXO1 child 2_153251123_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 0e6ec62a-328c-11e6-9777-62d8191589db 5_14022214_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 14022214 GA G 540 PASS - Del - 1 9 FANCC child 5_14022214_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 0e73a20a-3285-11e6-a0a8-096ea2c71c31 11_64459380_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 64459380 AC A 480 PASS NRXN2 Del intronic 1 7 MSH6 child 11_64459380_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 0e754496-3273-11e6-8f33-a6d9cde16804 11_63120329_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 63120329 TG T 480 PASS SLC22A10 Del intronic 1 8 MSH6 child 11_63120329_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 0e75d834-3327-11e6-bff4-e70b694da5d2 3_83169227_TCGCCTCACTGCAACCTCT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 3 83169227 TCGCCTCACTGCAACCTC T 300 PASS - Del - 17 1 EXO1 child 3_83169227_TCGCCTCACTGCAACCTCT_EXO1 17 >=10 6 CGCCTC 0 - Microhomology-mediated 0e7d4b3a-327f-11e6-9176-77c54dc77248 5_111582537_ACA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 5 111582537 AC A 480 PASS EPB41L4A Del intronic 1 6 NUDT1 child 5_111582537_ACA_NUDT1 1 1 1 C 5 C Repeat-mediated 0e7d4c46-328b-11e6-bc2b-e5cd191589db 12_13479701_GTGAGGT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 12 13479701 GTGA GGT 540 PASS - Complex - 3 0 FANCC child 12_13479701_GTGAGGT_FANCC 1 1 - - - - Complex 0e7e8060-328c-11e6-8106-81c36f39e758 19_24202738_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 24202738 GA G 480 PASS - Del - 1 9 MSH6 child 19_24202738_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 0e895d88-3286-11e6-afcf-0311bce6aa09 9_23385989_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 23385989 CA C 420 PASS - Del - 1 9 MSH6 child 9_23385989_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0e91a380-3277-11e6-a2b7-2d8b671699ea 21_41822074_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 41822074 TA T 420 PASS DSCAM Del intronic 1 9 MSH6 child 21_41822074_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0e92aad2-3286-11e6-b093-c9c7b0dab373 2_134919347_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 134919347 AT A 780 PASS MGAT5 Del intronic 1 9 MSH6 child 2_134919347_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0ea43f06-329d-11e6-ae71-0c5325c9da85 1_187005416_CGTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 187005416 CGT C 480 PASS - Del - 2 7 MSH6 child 1_187005416_CGTC_MSH6 2 2 2 GT 6 GT Repeat-mediated 0ea56636-328b-11e6-9c89-8d090e01a414 1_100578874_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 100578874 CA C 300 PASS SASS6 Del intronic 1 8 MSH6 child 1_100578874_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0ea8f522-3285-11e6-8ebc-68f1bbe6aa09 18_74388813_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 74388813 CA C 420 PASS - Del - 1 7 MSH6 child 18_74388813_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 0eaa632c-3270-11e6-bd32-d83490e2c2e6 12_68455208_GAG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 12 68455208 GA G 480 PASS - Del - 1 4 POLB child 12_68455208_GAG_POLB 1 1 1 A 3 A Repeat-mediated 0eaf7e04-3287-11e6-b32c-fd87a2c71c31 5_86923740_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 86923740 CA C 600 PASS - Del - 1 8 MSH6 child 5_86923740_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0eb46b72-329f-11e6-9c44-d26625c9da85 21_45465312_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 45465312 AT A 600 PASS TRAPPC10 Del intronic 1 9 MSH6 child 21_45465312_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0eb69100-3271-11e6-b5b8-e0c24a47a305 X_111333704_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 111333704 CT C 300 PASS - Del - 1 8 MSH6 child X_111333704_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0eba324e-3274-11e6-abaf-4642cab49462 6_168572154_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 168572154 AT A 360 PASS - Del - 1 5 MSH6 child 6_168572154_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 0ec18f7c-327d-11e6-864f-47be4dc77248 17_65706057_GAGAG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 17 65706057 GAGA G 834 PASS - Del - 3 1 NUDT1 child 17_65706057_GAGAG_NUDT1 3 3 2 AG 0 - Microhomology-mediated 0ec65010-327e-11e6-8559-4f7ef7be831b 5_172310210_AGTTCCTGTATGCCCTTTACCA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 5 172310210 AGTTCCTGTATGCCCTTTACC A 720 PASS ERGIC1 Del intronic 20 1 FANCC parent 5_172310210_AGTTCCTGTATGCCCTTTACCA_FANCC 20 >=10 0 - 0 - None 0ec787c4-3273-11e6-975f-8246cab49462 16_34853334_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 34853334 AT A 540 PASS - Del - 1 8 MSH6 child 16_34853334_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 0ec83fda-3259-11e6-8cd9-139b7872c165 3_122653937_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 122653937 TA T 360 PASS SEMA5B Del intronic 1 8 MSH6 child 3_122653937_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 0ed1c8ec-328c-11e6-b43c-7ec36f39e758 16_29437508_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 29437508 CA C 462 PASS SNX29P2 Del intronic 1 9 MSH6 child 16_29437508_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0ed5eea2-3270-11e6-b89d-b2d6b0dab373 4_39306872_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 39306872 TA T 540 PASS RFC1 Del intronic 1 7 MSH6 child 4_39306872_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0ed79604-329c-11e6-b74d-b59fcc638e3d 18_66304382_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 66304382 G GA 900 PASS - Ins - 1 6 MSH6 child 18_66304382_GGA_MSH6 1 1 - - - - Ins 0ed97ec2-3258-11e6-91d3-a68412ae24cf 7_119219154_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 119219154 GT G 420 PASS - Del - 1 1 MSH6 child 7_119219154_GTG_MSH6 1 1 0 - 0 T None 0ede754c-3291-11e6-9d97-efe56f39e758 4_164524915_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 164524915 CA C 660 PASS MARCH1 Del intronic 1 8 MSH6 child 4_164524915_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0edfc18e-3289-11e6-a8ac-a28ea2c71c31 3_141019489_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 141019489 GT G 300 PASS - Del - 1 7 MSH6 child 3_141019489_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 0ee7420c-3279-11e6-9e0f-7959cab49462 7_76105008_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 76105008 T TA 653 PASS DTX2 Ins intronic 1 8 MSH6 child 7_76105008_TTA_MSH6 1 1 - - - - Ins 0ee837dc-3276-11e6-83cd-a472a178171f 4_71663578_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 71663578 TA T 540 PASS RUFY3 Del downstream 1 9 MSH6 child 4_71663578_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0eea258a-3323-11e6-887a-7cd569062303 14_105775321_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 14 105775321 GA G 300 PASS BRF1 Del 5prime_UTR_variant 1 9 EXO1 child 14_105775321_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 0eeb1092-328f-11e6-bc33-715238e8a824 2_104344070_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 2 104344070 GA G 300 PASS - Del - 1 2 FANCC child 2_104344070_GAG_FANCC 1 1 1 A 1 A Repeat-mediated 0eef0c0a-326d-11e6-9793-9a8fb0dab373 13_48967071_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 48967071 CT C 300 PASS RB1 Del intronic 1 6 MSH6 child 13_48967071_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 0ef53e2e-3293-11e6-9d97-efe56f39e758 4_120385410_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 120385410 C CA 374 PASS - Ins - 1 9 MSH6 child 4_120385410_CCA_MSH6 1 1 - - - - Ins 0efc59e0-329b-11e6-ae71-0c5325c9da85 1_59641946_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 59641946 AT A 540 PASS RP11-470E16.1 Del intronic 1 7 MSH6 child 1_59641946_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0f0482aa-3287-11e6-9a8e-d2b1f6dffcf6 1_20262919_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 20262919 GA G 840 PASS - Del - 1 1 NUDT1 parent 1_20262919_GAG_NUDT1 1 1 0 - 0 A None 0f06e764-329d-11e6-ae71-0c5325c9da85 1_187134671_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 187134671 CA C 360 PASS LINC01036 Del intronic 1 9 MSH6 child 1_187134671_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 0f19ba04-329f-11e6-9c44-d26625c9da85 21_45530792_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 45530792 TA T 540 PASS TRAPPC10 Del downstream 1 9 MSH6 child 21_45530792_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0f1b343a-327a-11e6-ab1d-16d9ecf1e924 20_13715771_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 13715771 TC T 540 PASS ESF1 Del intronic 1 7 MSH6 child 20_13715771_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 0f1d87aa-3291-11e6-984b-997830158702 1_5236459_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 1 5236459 GA G 300 PASS - Del - 1 8 NUDT1 child 1_5236459_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated 0f226a90-3273-11e6-bfb2-2749c225ee11 12_51055266_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 51055266 CT C 720 PASS DIP2B Del intronic 1 7 MSH6 child 12_51055266_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 0f2783d6-3255-11e6-9f9d-2c7a7872c165 12_101953986_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 101953986 CT C 420 PASS - Del - 1 9 MSH6 child 12_101953986_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0f27fbd4-328e-11e6-bec1-ca1d0e01a414 X_62613243_GCG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 62613243 GC G 360 PASS - Del - 1 6 MSH6 child X_62613243_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 0f291c3c-326e-11e6-9d68-ac9acab49462 15_74202841_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 74202841 CA C 420 PASS - Del - 1 1 MSH6 child 15_74202841_CAC_MSH6 1 1 0 - 0 A None 0f2fac5c-3271-11e6-bfba-13bf4a47a305 9_113328434_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 113328434 C CA 300 PASS SVEP1 Ins intronic 1 6 MSH6 child 9_113328434_CCA_MSH6 1 1 - - - - Ins 0f315c64-3285-11e6-ad7a-723e51c54cdd 17_56887050_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 17 56887050 AT A 360 PASS PPM1E Del intronic 1 7 EXO1 child 17_56887050_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 0f363210-328b-11e6-8eee-76090e01a414 10_116171137_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 116171137 TA T 420 PASS - Del - 1 9 MSH6 child 10_116171137_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 0f3c73f6-3258-11e6-9d15-298312ae24cf X_96076328_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 96076328 CT C 300 PASS DIAPH2 Del intronic 1 8 MSH6 child X_96076328_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0f46cdec-3299-11e6-9718-edf997ba1142 15_62196461_AACTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 15 62196461 A ACTC 360 PASS VPS13C Ins intronic 3 0 CHK2 child 15_62196461_AACTC_CHK2 3 3 - - - - Ins 0f47f856-3259-11e6-8340-da9012ae24cf 6_33972445_TACT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 33972445 TAC T 420 PASS MIR1275 Del upstream 2 7 MSH6 child 6_33972445_TACT_MSH6 2 2 2 AC 6 AC Repeat-mediated 0f5a78b2-326f-11e6-8ee1-e5b97872c165 18_27876316_TTTTGT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 18 27876316 TTTTG T 300 PASS - Del - 4 3 NEIL1 child 18_27876316_TTTTGT_NEIL1 4 4 4 TTTG 2 TTTG Repeat-mediated 0f600936-328c-11e6-88c1-95c36f39e758 14_52086555_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 52086555 GA G 780 PASS FRMD6 Del intronic 1 8 MSH6 child 14_52086555_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0f682044-3287-11e6-b32c-fd87a2c71c31 5_87459658_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 87459658 CT C 462 PASS - Del - 1 8 MSH6 child 5_87459658_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0f687896-326e-11e6-b306-b5204b47a305 2_128793922_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 128793922 GA G 360 PASS - Del - 1 8 MSH6 child 2_128793922_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0f6cae96-3275-11e6-a26e-5d0c25864c47 3_8206714_CATAC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 3 8206714 CATA C 480 PASS - Del - 3 2 CHK2 child 3_8206714_CATAC_CHK2 3 3 3 ATA 1 ATA Repeat-mediated 0f793846-329d-11e6-ae71-0c5325c9da85 1_187218401_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 187218401 TA T 540 PASS LINC01036 Del intronic 1 7 MSH6 child 1_187218401_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0f7a3b02-3292-11e6-b77d-2eef6f39e758 6_106905736_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 106905736 GA G 480 PASS - Del - 1 6 MSH6 child 6_106905736_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 0f7b9a62-3286-11e6-a8af-066ea2c71c31 15_91589127_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 91589127 GT G 360 PASS - Del - 1 7 MSH6 child 15_91589127_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 0f86f04c-326d-11e6-b01f-1b4ba78019ab 17_63397317_ATA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 17 63397317 AT A 540 PASS - Del - 1 9 POLM parent 17_63397317_ATA_POLM 1 1 1 T 8 T Repeat-mediated 0f8b5d38-327e-11e6-9c0f-26bd1da8ec0e 8_72423382_TAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 8 72423382 TA T 600 PASS - Del - 1 9 FANCC parent 8_72423382_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 0f9c314a-3273-11e6-94cc-1ec335cec73b 19_24025662_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 24025662 CT C 720 PASS RP11-255H23.4 Del intronic 1 8 MSH6 child 19_24025662_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 0fa2c128-328b-11e6-a100-84090e01a414 18_39151486_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 39151486 G GT 300 PASS RP11-142I20.1 Ins intronic 1 8 MSH6 child 18_39151486_GGT_MSH6 1 1 - - - - Ins 0fa4e48a-3321-11e6-898e-96c25d753391 11_98723079_AAAACA . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 11 98723079 AAAAC A 720 PASS - Del - 4 5 CHK2 parent 11_98723079_AAAACA_CHK2 4 4 4 AAAC 4 AAAC Repeat-mediated 0fa5c3ae-329b-11e6-8848-de28c7271a47 8_128766610_CCTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 8 128766610 CCT C 480 PASS - Del - 2 5 CHK2 child 8_128766610_CCTC_CHK2 2 2 2 CT 4 CT Repeat-mediated 0fb27c4e-3286-11e6-b093-c9c7b0dab373 2_135266151_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 135266151 TG T 420 PASS TMEM163 Del intronic 1 1 MSH6 child 2_135266151_TGT_MSH6 1 1 0 - 0 G None 0fb8b58a-328d-11e6-a0b5-40d57098ee92 3_57845282_TAT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 3 57845282 TA T 600 PASS SLMAP Del intronic 1 7 NUDT1 child 3_57845282_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated 0fb8e7b4-3272-11e6-b89d-b2d6b0dab373 4_172365419_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 172365419 CT C 300 PASS - Del - 1 9 MSH6 child 4_172365419_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 0fbc5c0c-328e-11e6-b8ba-0ad9191589db 8_55019688_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 8 55019688 GA G 300 PASS - Del - 1 7 FANCC child 8_55019688_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 0fbd8602-3259-11e6-8340-da9012ae24cf 6_34136703_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 34136703 AT A 360 PASS - Del - 1 7 MSH6 child 6_34136703_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0fc23cd0-3289-11e6-8438-7fe95d753391 11_132868477_TAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 11 132868477 TA T 300 PASS OPCML Del intronic 1 6 POLE child 11_132868477_TAT_POLE 1 1 1 A 5 A Repeat-mediated 0fc25672-3287-11e6-a284-4b89a2c71c31 4_47042614_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 47042614 GA G 300 PASS GABRB1 Del intronic 1 8 MSH6 child 4_47042614_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 0fc9b554-3276-11e6-9e0f-7959cab49462 7_41738089_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 41738089 GA G 420 PASS INHBA Del intronic 1 9 MSH6 child 7_41738089_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 0fca8686-3286-11e6-afcf-0311bce6aa09 9_24134186_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 24134186 AT A 600 PASS - Del - 1 5 MSH6 child 9_24134186_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 0fce22f8-326f-11e6-b5b8-e0c24a47a305 X_2485871_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 2485871 CA C 480 PASS - Del - 1 8 MSH6 child X_2485871_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 0fcf090e-3290-11e6-9401-04ed6f39e758 3_5416826_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 5416826 CT C 540 PASS - Del - 1 7 MSH6 child 3_5416826_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 0fd4b638-328b-11e6-8eee-76090e01a414 10_116325402_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 116325402 AT A 720 PASS ABLIM1 Del intronic 1 9 MSH6 child 10_116325402_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 0fd79d02-3273-11e6-b8ae-92c57872c165 14_63134603_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 63134603 AT A 660 PASS - Del - 1 7 MSH6 child 14_63134603_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 0fd888bc-3290-11e6-80a5-44e8977b3f23 21_24084085_CAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 21 24084085 CA C 480 PASS - Del - 1 6 NEIL1 child 21_24084085_CAC_NEIL1 1 1 1 A 5 A Repeat-mediated 0fd8c836-3286-11e6-afcf-0311bce6aa09 9_24160570_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 24160570 TA T 360 PASS - Del - 1 7 MSH6 child 9_24160570_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 0fdfe944-3322-11e6-a17c-098c64f80bad 14_107125261_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 14 107125261 TA T 360 PASS - Del - 1 9 EXO1 child 14_107125261_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 0ff6a3a8-3275-11e6-ab69-1c1607e9a829 9_29938644_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 29938644 TG T 660 PASS - Del - 1 6 MSH6 child 9_29938644_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 0ff92154-328f-11e6-8770-3e160e01a414 9_106072779_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 106072779 T TA 360 PASS RP11-341A22.2 Ins intronic 1 3 MSH6 child 9_106072779_TTA_MSH6 1 1 - - - - Ins 0ff9e154-3323-11e6-8a20-9a0d75253f64 9_35623751_TAAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 9 35623751 TAA T 480 PASS CD72 Del upstream 2 5 CHK2 child 9_35623751_TAAT_CHK2 2 2 2 AA 3 A Repeat-mediated 100b372c-3294-11e6-b25c-c77219a91649 8_51931613_TTA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 8 51931613 T TA 360 PASS - Ins - 1 0 NEIL1 child 8_51931613_TTA_NEIL1 1 1 - - - - Ins 100b5ba6-3273-11e6-8f33-a6d9cde16804 11_63549179_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 63549179 CA C 441 PASS - Del - 1 9 MSH6 child 11_63549179_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 10127d36-328d-11e6-8770-3e160e01a414 9_109271641_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 109271641 CT C 300 PASS RP11-308N19.1 Del intronic 1 9 MSH6 child 9_109271641_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 10165654-3274-11e6-9e18-3a69671699ea 10_112495053_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 112495053 TC T 660 PASS RBM20 Del intronic 1 6 MSH6 child 10_112495053_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 10253f8e-328d-11e6-bfa2-581f0e01a414 7_23219389_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 23219389 AT A 360 PASS KLHL7 Del downstream 1 9 MSH6 child 7_23219389_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 10340e8a-326d-11e6-b306-b5204b47a305 2_39646384_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 39646384 TA T 360 PASS MAP4K3 Del intronic 1 9 MSH6 child 2_39646384_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 103a72d0-3258-11e6-91d3-a68412ae24cf 7_119998940_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 119998940 CT C 420 PASS KCND2 Del intronic 1 7 MSH6 child 7_119998940_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1044a5e6-3273-11e6-abaf-4642cab49462 6_103562640_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 103562640 GT G 420 PASS - Del - 1 8 MSH6 child 6_103562640_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 1057ef36-3280-11e6-a2c9-149290e2c2e6 3_26370489_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 26370489 TA T 660 PASS - Del - 1 9 NUDT1 child 3_26370489_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 105f5306-3277-11e6-83cd-a472a178171f 4_145246327_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 145246327 TA T 540 PASS - Del - 1 7 MSH6 child 4_145246327_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 10621ce8-3273-11e6-bfff-4333694da5d2 18_8896778_GGA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 18 8896778 G GA 300 PASS - Ins - 1 7 NUDT1 child 18_8896778_GGA_NUDT1 1 1 - - - - Ins 10661614-328b-11e6-a80b-87090e01a414 11_111439358_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 111439358 AT A 299 PASS - Del - 1 8 MSH6 child 11_111439358_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1076a2b0-327a-11e6-ab1d-16d9ecf1e924 20_13958237_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 13958237 CA C 360 PASS SEL1L2 Del intronic 1 8 MSH6 child 20_13958237_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 107faa74-32a0-11e6-bc66-17b4cc638e3d 8_80407221_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 80407221 AT A 540 PASS - Del - 1 8 MSH6 child 8_80407221_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1080f2c2-328b-11e6-b805-77090e01a414 2_119715743_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 119715743 TA T 420 PASS MARCO Del intronic 1 9 MSH6 child 2_119715743_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1086fd02-3272-11e6-abaf-4642cab49462 6_32686159_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 32686159 CT C 420 PASS XXbac-BPG254F23.7 Del nc_variant 1 7 MSH6 child 6_32686159_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 109be4b6-3285-11e6-821e-69f1bbe6aa09 16_60551886_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 60551886 GA G 420 PASS RP11-354I13.1 Del intronic 1 9 MSH6 child 16_60551886_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 10a0373e-3274-11e6-ace0-120b4ec77248 17_43373911_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 17 43373911 GA G 420 PASS - Del - 1 9 EXO1 child 17_43373911_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 10a3e0c2-3270-11e6-aff7-9ad52aaffa45 1_104441273_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 1 104441273 AT A 480 PASS - Del - 1 6 NEIL1 child 1_104441273_ATA_NEIL1 1 1 1 T 5 T Repeat-mediated 10c28ef6-328d-11e6-a7cf-80090e01a414 15_64719590_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 64719590 A AT 420 PASS TRIP4 Ins intronic 1 7 MSH6 child 15_64719590_AAT_MSH6 1 1 - - - - Ins 10c3624e-3275-11e6-ab69-1c1607e9a829 9_30318470_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 30318470 CT C 300 PASS - Del - 1 9 MSH6 child 9_30318470_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 10cc7d80-325b-11e6-885f-d1947872c165 4_155756721_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 155756721 G GA 420 PASS - Ins - 1 2 MSH6 child 4_155756721_GGA_MSH6 1 1 - - - - Ins 10d6dade-329f-11e6-94ca-0aaecc638e3d X_90850081_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 90850081 TA T 564 PASS - Del - 1 8 MSH6 child X_90850081_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 10dd3db6-3277-11e6-a71d-236235cec73b X_81866776_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 81866776 AT A 300 PASS - Del - 1 8 MSH6 child X_81866776_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 10f2d868-3274-11e6-a5d0-4fd14a47a305 2_148132185_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 148132185 CA C 360 PASS - Del - 1 9 MSH6 child 2_148132185_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 10f93548-3277-11e6-83cd-a472a178171f 4_145620822_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 145620822 GA G 600 PASS HHIP Del intronic 1 9 MSH6 child 4_145620822_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 11015aa0-328d-11e6-b6a6-1f1e0e01a414 4_39306872_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 39306872 TA T 360 PASS RFC1 Del intronic 1 7 MSH6 child 4_39306872_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 11029346-328a-11e6-a380-15ec54de4fc4 1_88450745_CAC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 1 88450745 CA C 420 PASS - Del - 1 5 CHK2 child 1_88450745_CAC_CHK2 1 1 1 A 4 A Repeat-mediated 110d421e-3276-11e6-9065-cc4890e2c2e6 1_72965638_GGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 72965638 G GT 480 PASS - Ins - 1 0 MSH6 parent 1_72965638_GGT_MSH6 1 1 - - - - Ins 11159c4e-328e-11e6-b9c4-751d0e01a414 5_122733934_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 122733934 GA G 360 PASS CEP120 Del intronic 1 9 MSH6 child 5_122733934_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 11176382-327d-11e6-8fd7-46dab41afd22 15_82227553_ATA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 15 82227553 AT A 540 PASS - Del - 1 8 POLM child 15_82227553_ATA_POLM 1 1 1 T 7 T Repeat-mediated 1125b4d2-3278-11e6-a8d8-3e6075253f64 3_173510623_GTATTTTAAATGACTAGCTTCCATTTGGAATAGAAAATATCTTATTTTTGCTCATGAATTTCGAAAACATCAAAACTAGTGTTAAACCATATTTAGTTTTCATCTGTCTTGTTTG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 173510623 GTATTTTAAATGACTAGCTTCCATTTGGAATAGAAAATATCTTATTTTTGCTCATGAATTTCGAAAACATCAAAACTAGTGTTAAACCATATTTAGTTTTCATCTGTCTTGTTT G 360 PASS NLGN1 Del intronic 113 1 FANCC child 3_173510623_GTATTTTAAATGACTAGCTTCCATTTGGAATAGAAAATATCTTATTTTTGCTCATGAATTTCGAAAACATCAAAACTAGTGTTAAACCATATTTAGTTTTCATCTGTCTTGTTTG_FANCC 113 >=10 2 TA 0 - Microhomology-mediated 113c99aa-3277-11e6-a71d-236235cec73b X_82019763_AAGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 82019763 AAG A 360 PASS - Del - 2 8 MSH6 child X_82019763_AAGA_MSH6 2 2 2 AG 7 AG Repeat-mediated 1141dd46-328d-11e6-b4fe-93c36f39e758 12_94354894_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 94354894 CA C 600 PASS - Del - 1 5 MSH6 child 12_94354894_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 1142dcf0-3256-11e6-9f9d-2c7a7872c165 12_25160884_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 25160884 A AT 480 PASS RP11-713N11.5 Ins upstream 1 8 MSH6 child 12_25160884_AAT_MSH6 1 1 - - - - Ins 114ea3c2-3275-11e6-a5d0-4fd14a47a305 2_229379061_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 229379061 CT C 360 PASS AC009410.1 Del intronic 1 9 MSH6 child 2_229379061_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 115421a2-3258-11e6-b4fa-e69a7872c165 21_36760575_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 36760575 AT A 660 PASS RUNX1 Del intronic 1 7 MSH6 child 21_36760575_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 115ad6ae-328b-11e6-a70a-47793adbad45 3_139468436_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 139468436 CT C 660 PASS - Del - 1 9 NUDT1 parent 3_139468436_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 11600872-329a-11e6-bda6-065325c9da85 13_31008815_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 31008815 GT G 660 PASS - Del - 1 8 MSH6 child 13_31008815_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 116963d6-326d-11e6-acc7-e55219a91649 1_54613869_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 54613869 AT A 360 PASS CDCP2 Del intronic 1 9 MSH6 child 1_54613869_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 116a1104-329b-11e6-a0ea-135325c9da85 15_66804605_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 66804605 AT A 480 PASS ZWILCH Del intronic 1 6 MSH6 child 15_66804605_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 116bb286-328f-11e6-8e48-791e0e01a414 8_98225409_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 98225409 GA G 300 PASS - Del - 1 8 MSH6 child 8_98225409_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 116fc108-3287-11e6-afcf-0311bce6aa09 9_139263933_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 139263933 CT C 900 PASS CARD9 Del intronic 1 8 MSH6 child 9_139263933_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 117056b0-3276-11e6-90a5-ccdb6de4ab00 2_231945244_ATGTA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 2 231945244 ATGT A 720 PASS PSMD1 Del intronic 3 2 CHK2 child 2_231945244_ATGTA_CHK2 3 3 3 TGT 1 TGT Repeat-mediated 11745486-3258-11e6-acc5-308412ae24cf 5_122704654_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 122704654 GT G 720 PASS CEP120 Del intronic 1 9 MSH6 child 5_122704654_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 11778caa-3258-11e6-b4fa-e69a7872c165 21_36803970_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 36803970 AT A 300 PASS RUNX1 Del intronic 1 6 MSH6 child 21_36803970_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 117ec62a-3274-11e6-a76d-26961565c797 1_95632463_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 95632463 AT A 360 PASS TMEM56 Del intronic 1 8 EXO1 child 1_95632463_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 11804b16-328e-11e6-b6a6-1f1e0e01a414 4_99356417_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 99356417 AT A 300 PASS RAP1GDS1 Del intronic 1 7 MSH6 child 4_99356417_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1188746a-329a-11e6-8dc6-b86ca178171f 6_23800357_GGTCTT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 6 23800357 G GTCTT 300 PASS - Ins - 4 0 NEIL1 child 6_23800357_GGTCTT_NEIL1 4 4 - - - - Ins 118c55ec-3274-11e6-b332-88ba7d6a9fc7 15_77241716_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 77241716 GA G 780 PASS RCN2 Del 3prime_UTR_variant 1 9 MSH6 child 15_77241716_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 11967118-32a0-11e6-91d0-016425c9da85 7_152988858_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 152988858 CA C 396 PASS - Del - 1 8 MSH6 child 7_152988858_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 11975abc-328a-11e6-9539-3490a178171f 3_28793571_CAATAAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 28793571 CAATAA C 300 PASS - Del - 5 1 FANCC child 3_28793571_CAATAAC_FANCC 5 5 1 A 0 - Microhomology-mediated 119eaec8-329b-11e6-ae71-0c5325c9da85 1_60745128_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 60745128 AT A 250 PASS - Del - 1 4 MSH6 child 1_60745128_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 119f6014-3270-11e6-8418-1c5942c4520d 3_11658175_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 11658175 GA G 300 PASS VGLL4 Del intronic 1 8 MSH6 child 3_11658175_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 11a07f38-329a-11e6-8d0f-075325c9da85 14_31559123_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 31559123 TA T 840 PASS AP4S1 Del downstream 1 7 MSH6 child 14_31559123_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 11a71d26-327b-11e6-a391-f6d67d6a9fc7 6_63224308_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 63224308 T TA 720 PASS - Ins - 1 9 MSH6 child 6_63224308_TTA_MSH6 1 1 - - - - Ins 11a71d64-3274-11e6-8ac8-25fbd7fd0a58 X_19667601_ATCTA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA X 19667601 ATCT A 900 PASS SH3KBP1 Del intronic 3 3 NEIL1 child X_19667601_ATCTA_NEIL1 3 3 3 TCT 2 TCT Repeat-mediated 11ab6d8c-3284-11e6-8597-c8186ee4ab00 8_61838525_TTCA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 8 61838525 T TCA 480 PASS AC022182.1 Ins intronic 2 0 POLB parent 8_61838525_TTCA_POLB 2 2 - - - - Ins 11b7a310-32a0-11e6-ae71-0c5325c9da85 1_99607623_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 99607623 C CA 360 PASS - Ins - 1 7 MSH6 child 1_99607623_CCA_MSH6 1 1 - - - - Ins 11bcbef2-3324-11e6-a5dc-75b8cde16804 1_212156551_CTC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 212156551 CT C 720 PASS INTS7 Del intronic 1 9 EXO1 child 1_212156551_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 11c0e206-3276-11e6-9bb2-e658c225ee11 20_1483713_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 20 1483713 AT A 600 PASS - Del - 1 8 EXO1 parent 20_1483713_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 11c90588-3291-11e6-90b2-d6ec98816cf3 8_103689626_CTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 8 103689626 CT C 360 PASS - Del - 1 9 POLB child 8_103689626_CTC_POLB 1 1 1 T 8 T Repeat-mediated 11ca8cf6-3281-11e6-ae55-ef338e4678dd 14_64489449_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 14 64489449 CT C 540 PASS SYNE2 Del intronic 1 9 EXO1 child 14_64489449_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 11cd11d0-3284-11e6-a912-733e51c54cdd 13_26048016_GTG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 13 26048016 GT G 420 PASS ATP8A2 Del intronic 1 7 EXO1 child 13_26048016_GTG_EXO1 1 1 1 T 6 T Repeat-mediated 11cf740e-3255-11e6-89d3-d29498816cf3 2_170469842_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 170469842 AT A 1080 PASS PPIG Del intronic 1 6 MSH6 child 2_170469842_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 11d31a00-32a0-11e6-a04f-c66a25c9da85 6_45730052_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 45730052 GT G 720 PASS - Del - 1 6 MSH6 child 6_45730052_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 11d3bf3a-3275-11e6-b2ab-fba69cdf095d X_48173606_TAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA X 48173606 TA T 340 PASS - Del - 1 8 NUDT1 child X_48173606_TAT_NUDT1 1 1 1 A 7 A Repeat-mediated 11d43c88-3281-11e6-a31e-d655f7d33ce3 1_26340443_ATA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 1 26340443 AT A 420 PASS - Del - 1 8 NUDT1 child 1_26340443_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 11dc55a4-329e-11e6-bc2c-2a5e25c9da85 4_75277539_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 75277539 TA T 600 PASS - Del - 1 6 MSH6 child 4_75277539_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 11dd739e-3285-11e6-821e-69f1bbe6aa09 16_61339380_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 61339380 AT A 660 PASS - Del - 1 8 MSH6 child 16_61339380_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 11e00c84-3254-11e6-89d3-d29498816cf3 2_60203156_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 60203156 CT C 480 PASS RP11-444A22.1 Del intronic 1 9 MSH6 child 2_60203156_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 11e30880-3281-11e6-a6ac-c98169062303 17_41607631_CAAGC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 17 41607631 CAAG C 360 PASS ETV4 Del 5prime_UTR_variant 3 1 FANCC child 17_41607631_CAAGC_FANCC 3 3 2 AA 0 - Microhomology-mediated 11f1493a-3273-11e6-a5d0-4fd14a47a305 2_58597251_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 58597251 TA T 420 PASS - Del - 1 9 MSH6 child 2_58597251_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 12038e0e-327a-11e6-8de8-fc8b5d753391 10_106986275_CTC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 10 106986275 CT C 420 PASS SORCS3 Del intronic 1 7 FANCC parent 10_106986275_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 1204e8fa-3287-11e6-99f7-076ea2c71c31 12_89326542_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 89326542 G GT 480 PASS - Ins - 1 8 MSH6 child 12_89326542_GGT_MSH6 1 1 - - - - Ins 120cd2b8-3273-11e6-a06f-b3ac8a20d9eb 17_10919483_AGACTCTCCTTGGGGTAGCAGGAGTACTTGCTTCTAAGCTGTCTCATGTA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 17 10919483 AGACTCTCCTTGGGGTAGCAGGAGTACTTGCTTCTAAGCTGTCTCATGT A 360 PASS - Del - 48 1 EXO1 child 17_10919483_AGACTCTCCTTGGGGTAGCAGGAGTACTTGCTTCTAAGCTGTCTCATGTA_EXO1 48 >=10 4 GACT 0 - Microhomology-mediated 120fd26a-329b-11e6-a5cf-205325c9da85 11_74665070_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 74665070 CT C 540 PASS XRRA1 Del upstream 1 7 MSH6 child 11_74665070_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 12113c72-328c-11e6-919e-92c36f39e758 2_37478338_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 37478338 TA T 300 PASS PRKD3 Del 3prime_UTR_variant 1 9 MSH6 child 2_37478338_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1211de1a-3288-11e6-8bbd-f88da2c71c31 21_47736535_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 47736535 TG T 600 PASS C21orf58 Del intronic 1 7 MSH6 child 21_47736535_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 1214aa8e-329f-11e6-9c44-d26625c9da85 21_46332604_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 46332604 GC G 915 PASS ITGB2 Del intronic 1 5 MSH6 child 21_46332604_GCG_MSH6 1 1 1 C 4 C Repeat-mediated 1217d596-328c-11e6-aa75-90c36f39e758 13_51406557_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 51406557 CA C 480 PASS DLEU7 Del intronic 1 6 MSH6 child 13_51406557_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 1218cccc-3277-11e6-998e-ba48fa52e078 8_102609011_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 102609011 TG T 840 PASS GRHL2 Del intronic 1 1 MSH6 child 8_102609011_TGT_MSH6 1 1 0 - 0 G None 121fe20a-3277-11e6-a2b7-2d8b671699ea 21_42720767_GTTTCCATGAGATCAGCATTAGAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 42720767 GTTTCCATGAGATCAGCATTAGA G 660 PASS FAM3B Del intronic 22 1 MSH6 child 21_42720767_GTTTCCATGAGATCAGCATTAGAG_MSH6 22 >=10 1 T 0 - Microhomology-mediated 12296bfe-3290-11e6-9432-c0e56f39e758 5_104518852_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 104518852 GA G 540 PASS - Del - 1 5 MSH6 child 5_104518852_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 122a15f8-32a0-11e6-b696-dd6225c9da85 5_5511175_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 5511175 C CT 420 PASS - Ins - 1 1 MSH6 child 5_5511175_CCT_MSH6 1 1 - - - - Ins 122c6dec-327f-11e6-a534-1b233dc9300a 19_5693070_AAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 19 5693070 A AC 480 PASS LONP1 Ins intronic 1 6 NEIL1 child 19_5693070_AAC_NEIL1 1 1 - - - - Ins 1234f324-3273-11e6-83ef-69fb06e9a829 18_48463138_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 48463138 CA C 540 PASS ME2 Del intronic 1 8 MSH6 child 18_48463138_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 12351ae4-329a-11e6-aca6-b39fcc638e3d 2_22330265_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 22330265 TA T 840 PASS AC068490.2 Del intronic 1 9 MSH6 child 2_22330265_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1238d062-3277-11e6-a71d-236235cec73b X_82751997_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 82751997 AT A 420 PASS - Del - 1 6 MSH6 child X_82751997_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 123f94b2-329d-11e6-bc2c-2a5e25c9da85 4_9929737_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 9929737 GA G 660 PASS SLC2A9 Del intronic 1 8 MSH6 child 4_9929737_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 12442f62-3258-11e6-8cd9-139b7872c165 3_41470634_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 41470634 GA G 300 PASS ULK4 Del intronic 1 7 MSH6 child 3_41470634_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 1244791c-328b-11e6-8459-82090e01a414 12_106501952_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 106501952 GA G 300 PASS NUAK1 Del intronic 1 9 MSH6 child 12_106501952_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1245b29e-3288-11e6-9d41-22c435cec73b 5_148286448_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 5 148286448 GA G 420 PASS - Del - 1 9 POLE child 5_148286448_GAG_POLE 1 1 1 A 8 A Repeat-mediated 1248961e-329a-11e6-8d0f-075325c9da85 14_31620913_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 31620913 TA T 720 PASS HECTD1 Del intronic 1 8 MSH6 child 14_31620913_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 124b6e76-328a-11e6-938d-bbbd38e8a824 5_30615178_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 5 30615178 TA T 420 PASS - Del - 1 6 NUDT1 parent 5_30615178_TAT_NUDT1 1 1 1 A 5 A Repeat-mediated 12688ea0-328c-11e6-b43c-7ec36f39e758 16_29935504_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 29935504 AG A 300 PASS KCTD13 Del intronic 1 1 MSH6 child 16_29935504_AGA_MSH6 1 1 0 - 0 G None 126b0982-3287-11e6-9bc8-5079a178171f 15_73242440_CAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 15 73242440 CA C 540 PASS - Del - 1 9 FANCC child 15_73242440_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 126c4dba-328c-11e6-aa75-90c36f39e758 13_51524591_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 51524591 CA C 960 PASS RNASEH2B Del intronic 1 9 MSH6 child 13_51524591_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 126dd826-328f-11e6-8f31-bfe16f39e758 9_98473144_CGTCCCTGCACTAACTGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 98473144 CGTCCCTGCACTAACTG C 780 PASS RP11-180I4.2 Del intronic 16 1 MSH6 child 9_98473144_CGTCCCTGCACTAACTGC_MSH6 16 >=10 1 G 0 - Microhomology-mediated 126eb124-328a-11e6-a8e5-1eb669062303 13_101927133_ATA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 13 101927133 AT A 360 PASS NALCN Del intronic 1 7 CHK2 child 13_101927133_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 1271d884-328c-11e6-9892-02ba5d753391 5_142814604_CAGATC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 5 142814604 CAGAT C 360 PASS NR3C1 Del 5prime_UTR_variant 4 1 POLE child 5_142814604_CAGATC_POLE 4 4 1 A 0 - Microhomology-mediated 1273dd16-328a-11e6-b74f-549ba2c71c31 20_23785857_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 23785857 AT A 458 PASS - Del - 1 9 MSH6 child 20_23785857_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 127d2f86-3273-11e6-9e18-3a69671699ea 10_50155309_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 50155309 GA G 540 PASS WDFY4 Del intronic 1 5 MSH6 child 10_50155309_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 12823afe-3277-11e6-8703-f161e7d0bdd7 X_154467299_ATA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA X 154467299 AT A 420 PASS VBP1 Del 3prime_UTR_variant 1 9 POLB child X_154467299_ATA_POLB 1 1 1 T 8 T Repeat-mediated 12900520-329b-11e6-8069-175325c9da85 12_70808011_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 70808011 CA C 720 PASS KCNMB4 Del intronic 1 9 MSH6 child 12_70808011_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 129b2752-3273-11e6-bfb2-2749c225ee11 12_51557542_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 51557542 CA C 420 PASS TFCP2 Del intronic 1 6 MSH6 child 12_51557542_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 129f2ce0-3286-11e6-9734-c5d59b6d3b88 20_10015196_GAAG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 20 10015196 GAA G 540 PASS ANKEF1 Del upstream 2 4 POLE child 20_10015196_GAAG_POLE 2 2 2 AA 2 A Repeat-mediated 12a123f4-3283-11e6-bf19-ebeb1da8ec0e 9_35456175_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 9 35456175 CT C 528 PASS - Del - 1 8 EXO1 child 9_35456175_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 12a3606a-328d-11e6-b8e6-91c36f39e758 11_102568806_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 102568806 CT C 480 PASS MMP27 Del intronic 1 9 MSH6 child 11_102568806_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 12ba68fe-328e-11e6-8c87-38240e01a414 22_40000594_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 40000594 CT C 420 PASS CACNA1I Del intronic 1 8 MSH6 child 22_40000594_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 12bac862-3289-11e6-b9eb-c78fa2c71c31 6_121560804_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 121560804 AT A 600 PASS TBC1D32 Del intronic 1 9 MSH6 child 6_121560804_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 12c31288-328e-11e6-bec1-ca1d0e01a414 X_64874855_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 64874855 CT C 480 PASS - Del - 1 9 MSH6 child X_64874855_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 12c372ec-328d-11e6-9e01-8e5c694da5d2 12_50854278_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 12 50854278 AT A 420 PASS LARP4 Del intronic 1 9 POLM child 12_50854278_ATA_POLM 1 1 1 T 8 T Repeat-mediated 12cb89f2-3277-11e6-998e-ba48fa52e078 8_102769893_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 102769893 GT G 300 PASS NCALD Del intronic 1 9 MSH6 child 8_102769893_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 12d419e0-3282-11e6-ab87-22bd9b6d3b88 10_129385148_TTCCCCAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 10 129385148 TTCCCCA T 540 PASS - Del - 6 1 EXO1 child 10_129385148_TTCCCCAT_EXO1 6 6 1 T 0 - Microhomology-mediated 12d78c7e-329b-11e6-b549-1e5325c9da85 10_74312306_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 74312306 AT A 960 PASS MICU1 Del intronic 1 4 MSH6 child 10_74312306_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 12d8e65a-328c-11e6-8106-81c36f39e758 19_28808685_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 28808685 AT A 360 PASS AC005780.1 Del intronic 1 9 MSH6 child 19_28808685_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 12d95bea-326d-11e6-b9f4-5d1d694da5d2 14_53123051_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 53123051 GA G 300 PASS ERO1L Del intronic 1 8 MSH6 child 14_53123051_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 12e05dc8-3290-11e6-a2f5-49ab4430f757 15_86450409_AAC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 15 86450409 A AC 360 PASS - Ins - 1 1 POLE child 15_86450409_AAC_POLE 1 1 - - - - Ins 12e5a22c-3292-11e6-8c3d-0ab4e7d0bdd7 3_96263666_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 96263666 GA G 360 PASS - Del - 1 9 FANCC child 3_96263666_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 12e6f960-328d-11e6-bec1-ca1d0e01a414 X_55057043_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 55057043 AG A 420 PASS ALAS2 Del intronic 1 5 MSH6 child X_55057043_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 12f0169c-327b-11e6-a391-f6d67d6a9fc7 6_63800411_TTAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 63800411 T TAC 420 PASS - Ins - 2 8 MSH6 child 6_63800411_TTAC_MSH6 2 2 - - - - Ins 12f60ef4-328e-11e6-8c87-38240e01a414 22_40141309_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 40141309 TA T 480 PASS ENTHD1 Del intronic 1 9 MSH6 child 22_40141309_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 12fda766-328b-11e6-9c12-b6c430158702 2_79706435_CAC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 2 79706435 CA C 360 PASS CTNNA2 Del intronic 1 4 POLM child 2_79706435_CAC_POLM 1 1 1 A 3 A Repeat-mediated 130486a2-3255-11e6-9f9d-2c7a7872c165 12_102910700_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 102910700 GA G 660 PASS - Del - 1 4 MSH6 child 12_102910700_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 1304bd76-3254-11e6-a03d-40f212ae24cf 18_37964629_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 37964629 CT C 660 PASS - Del - 1 8 MSH6 child 18_37964629_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1306170a-3288-11e6-8404-8e1fbce6aa09 8_85698397_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 85698397 AT A 300 PASS RALYL Del intronic 1 7 MSH6 child 8_85698397_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 13097b1c-3296-11e6-958d-954f0d016689 3_177478527_CAAATGAATCATC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 3 177478527 CAAATGAATCAT C 300 PASS - Del - 11 1 NUDT1 child 3_177478527_CAAATGAATCATC_NUDT1 11 >=10 5 AAATG 0 - Microhomology-mediated 1312dad8-3271-11e6-b89d-b2d6b0dab373 4_106697543_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 106697543 GA G 420 PASS GSTCD Del intronic 1 8 MSH6 child 4_106697543_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1317889c-3287-11e6-a284-4b89a2c71c31 4_48011859_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 48011859 CT C 693 PASS CNGA1 Del intronic 1 8 MSH6 child 4_48011859_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 13184860-3285-11e6-9daa-026ea2c71c31 14_88844361_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 88844361 GA G 540 PASS - Del - 1 9 MSH6 child 14_88844361_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 131f6162-328b-11e6-ba48-afb3cc638e3d 2_157673868_GTTAGAATACAATTTCG . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 2 157673868 GTTAGAATACAATTTC G 540 PASS - Del - 15 1 NUDT1 child 2_157673868_GTTAGAATACAATTTCG_NUDT1 15 >=10 3 TTA 0 - Microhomology-mediated 13284c0a-3254-11e6-a03d-40f212ae24cf 18_37977414_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 37977414 GA G 420 PASS - Del - 1 9 MSH6 child 18_37977414_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 132fa3de-3271-11e6-9309-bdc34a47a305 8_88936376_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 88936376 CA C 300 PASS - Del - 1 9 MSH6 child 8_88936376_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 133970d4-3290-11e6-9432-c0e56f39e758 5_104795386_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 104795386 TA T 420 PASS - Del - 1 8 MSH6 child 5_104795386_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 133c9182-3273-11e6-826a-adb6fa52e078 17_39534902_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 39534902 GA G 300 PASS KRT34 Del intronic 1 5 MSH6 child 17_39534902_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 13441602-3285-11e6-97d5-6cf1bbe6aa09 17_51843219_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 51843219 GA G 420 PASS - Del - 1 8 MSH6 child 17_51843219_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 135cf0e2-3270-11e6-b89d-b2d6b0dab373 4_39901604_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 39901604 GT G 420 PASS PDS5A Del intronic 1 7 MSH6 child 4_39901604_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 135ee5c6-3272-11e6-b89d-b2d6b0dab373 4_173339358_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 173339358 CT C 300 PASS GALNTL6 Del intronic 1 8 MSH6 child 4_173339358_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 13683394-3270-11e6-8418-1c5942c4520d 3_12029056_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 12029056 GT G 480 PASS - Del - 1 8 MSH6 child 3_12029056_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 136cb66a-329f-11e6-b696-dd6225c9da85 5_130550184_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 130550184 CT C 1200 PASS - Del - 1 8 MSH6 child 5_130550184_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 136d7c1a-3274-11e6-8e5a-ca301daa6045 18_47927174_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 18 47927174 CT C 420 PASS - Del - 1 7 EXO1 child 18_47927174_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 137302f6-3270-11e6-8325-b737c225ee11 1_77358053_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 1 77358053 CT C 360 PASS ST6GALNAC5 Del intronic 1 8 NUDT1 child 1_77358053_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 1373f2fa-3271-11e6-8fc7-e8702aaffa45 9_80122468_TAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 9 80122468 TA T 600 PASS GNA14 Del intronic 1 7 POLM child 9_80122468_TAT_POLM 1 1 1 A 6 A Repeat-mediated 1375e4c4-3290-11e6-bd11-15ea6f39e758 21_44719241_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 21 44719241 AC A 720 PASS - Del - 1 5 MSH6 child 21_44719241_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 13761e34-328c-11e6-b8e6-91c36f39e758 11_34171149_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 34171149 CT C 480 PASS ABTB2 Del downstream 1 8 MSH6 child 11_34171149_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1377da42-329d-11e6-94ca-0aaecc638e3d X_14558343_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 14558343 GA G 600 PASS GLRA2 Del intronic 1 7 MSH6 child X_14558343_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 137b63aa-328a-11e6-a8b1-14ec54de4fc4 11_94907102_TAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 11 94907102 TA T 480 PASS SESN3 Del intronic 1 5 CHK2 child 11_94907102_TAT_CHK2 1 1 1 A 4 A Repeat-mediated 137bbc4e-328d-11e6-b8e6-91c36f39e758 11_102813167_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 102813167 AC A 300 PASS MMP13 Del downstream 1 5 MSH6 child 11_102813167_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 137d0b48-328e-11e6-bec1-ca1d0e01a414 X_65290677_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 65290677 GA G 360 PASS - Del - 1 9 MSH6 child X_65290677_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 138a7e3c-3297-11e6-854b-9fa830158702 20_1734487_TAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 20 1734487 TA T 360 PASS - Del - 1 8 NUDT1 child 20_1734487_TAT_NUDT1 1 1 1 A 7 A Repeat-mediated 13945d7a-3275-11e6-865b-486635761512 18_28991064_CTC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 18 28991064 CT C 420 PASS DSG4 Del splice_region 1 3 POLM child 18_28991064_CTC_POLM 1 1 1 T 2 T Repeat-mediated 139f6cf2-329c-11e6-b129-195325c9da85 16_10684858_CCAAAAAAAAAAAA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 10684858 C CAAAAAAAAAAAA 300 PASS - Ins - 12 9 MSH6 child 16_10684858_CCAAAAAAAAAAAA_MSH6 12 >=10 - - - - Ins 13a46380-328b-11e6-aff5-85090e01a414 16_2657870_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 2657870 G GT 260 PASS PDPK1 Ins downstream 1 9 MSH6 child 16_2657870_GGT_MSH6 1 1 - - - - Ins 13c3b0ae-327d-11e6-8559-4f7ef7be831b 5_97173505_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 5 97173505 CA C 660 PASS - Del - 1 7 FANCC parent 5_97173505_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 13c7eeac-328d-11e6-bec1-ca1d0e01a414 X_55603561_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 55603561 TA T 300 PASS - Del - 1 6 MSH6 child X_55603561_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 13d0b90c-3278-11e6-b7b5-ce91a78019ab 5_108060381_ACA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 108060381 AC A 720 PASS LINC01023 Del downstream 1 1 NEIL1 child 5_108060381_ACA_NEIL1 1 1 0 - 0 C None 13d5a932-3285-11e6-a912-733e51c54cdd 13_96480614_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 13 96480614 CA C 960 PASS UGGT2 Del intronic 1 6 EXO1 child 13_96480614_CAC_EXO1 1 1 1 A 5 A Repeat-mediated 13dc50ba-3272-11e6-b439-e34b3cfdbd24 2_72431328_CAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 72431328 CA C 540 PASS EXOC6B Del intronic 1 7 MSH6 parent 2_72431328_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 13dfd50c-3324-11e6-9432-0b923cfdbd24 9_102308571_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 9 102308571 AT A 420 PASS - Del - 1 5 EXO1 child 9_102308571_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 13e6b724-328d-11e6-a6b1-9a5c694da5d2 10_47105564_GAG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 10 47105564 GA G 720 PASS LINC00842 Del intronic 1 7 POLM child 10_47105564_GAG_POLM 1 1 1 A 6 A Repeat-mediated 13f07ac6-3273-11e6-bfb2-2749c225ee11 12_51710288_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 51710288 GA G 540 PASS BIN2 Del intronic 1 9 MSH6 child 12_51710288_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 13fda86e-326d-11e6-9f48-94df41c4520d 12_40759333_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 40759333 CT C 300 PASS LRRK2 Del intronic 1 7 MSH6 child 12_40759333_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1400248e-328d-11e6-bd84-429305ad5bc4 1_208169981_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 208169981 TA T 360 PASS - Del - 1 9 MSH6 child 1_208169981_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1415a408-3274-11e6-a5d0-4fd14a47a305 2_149471231_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 149471231 AT A 360 PASS EPC2 Del intronic 1 6 MSH6 child 2_149471231_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 14182ca6-3291-11e6-850b-ec0b9c6d3b88 4_157756630_CAC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 157756630 CA C 540 PASS PDGFC Del intronic 1 9 POLB child 4_157756630_CAC_POLB 1 1 1 A 8 A Repeat-mediated 1419939a-3271-11e6-a539-0e5542c4520d 7_153938654_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 153938654 CA C 480 PASS DPP6 Del intronic 1 8 MSH6 child 7_153938654_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 141af5ea-328b-11e6-a8ac-a28ea2c71c31 3_157603291_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 157603291 T TA 452 PASS - Ins - 1 7 MSH6 child 3_157603291_TTA_MSH6 1 1 - - - - Ins 14300916-3287-11e6-b611-f56e3adbad45 11_16653344_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 11 16653344 AT A 480 PASS - Del - 1 5 NUDT1 parent 11_16653344_ATA_NUDT1 1 1 1 T 4 T Repeat-mediated 1432832a-329c-11e6-9048-b49fcc638e3d 17_15566923_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 15566923 C CT 600 PASS TRIM16 Ins intronic 1 2 MSH6 child 17_15566923_CCT_MSH6 1 1 - - - - Ins 143631b2-328f-11e6-bfa2-581f0e01a414 7_141232252_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 141232252 TA T 480 PASS - Del - 1 9 MSH6 child 7_141232252_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 14430330-3274-11e6-a862-bc9becf1e924 1_109838834_GCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 109838834 GC G 480 PASS MYBPHL Del intronic 1 6 MSH6 child 1_109838834_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 14462194-3271-11e6-b89d-b2d6b0dab373 4_107041473_CGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 107041473 CG C 258 PASS TBCK Del intronic 1 1 MSH6 child 4_107041473_CGC_MSH6 1 1 0 - 0 G None 14494f72-328a-11e6-8eee-76090e01a414 10_56843223_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 56843223 TA T 420 PASS PCDH15 Del intronic 1 7 MSH6 child 10_56843223_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 1449bb64-3290-11e6-92cf-bf2a0e01a414 6_82175798_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 82175798 CT C 540 PASS - Del - 1 8 MSH6 child 6_82175798_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 144b8d4e-329b-11e6-9048-b49fcc638e3d 17_52642011_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 52642011 CA C 300 PASS - Del - 1 7 MSH6 child 17_52642011_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 14516866-3324-11e6-ada4-b8297e6a9fc7 13_88428872_AAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 13 88428872 A AT 360 PASS - Ins - 1 5 EXO1 child 13_88428872_AAT_EXO1 1 1 - - - - Ins 14538532-3258-11e6-9d15-298312ae24cf X_97627529_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 97627529 AT A 540 PASS - Del - 1 5 MSH6 child X_97627529_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 145e3e7e-328e-11e6-ab9a-705238e8a824 18_39478851_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 18 39478851 TA T 360 PASS - Del - 1 8 FANCC child 18_39478851_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 146712b4-3271-11e6-b439-e34b3cfdbd24 2_1421900_CAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 1421900 CA C 553 PASS TPO Del intronic 1 9 MSH6 parent 2_1421900_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 146fc41c-328b-11e6-9c89-8d090e01a414 1_101790121_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 101790121 GT G 300 PASS RP11-157N3.1 Del intronic 1 9 MSH6 child 1_101790121_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 1470eb80-329a-11e6-a5cf-205325c9da85 11_14318366_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 14318366 TA T 1260 PASS RRAS2 Del intronic 1 8 MSH6 child 11_14318366_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1472b23a-329a-11e6-aca6-b39fcc638e3d 2_23329180_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 23329180 GA G 780 PASS AC016768.1 Del intronic 1 9 MSH6 child 2_23329180_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 14878bb0-3254-11e6-8ebc-3ef212ae24cf 15_45931270_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 45931270 TA T 540 PASS SQRDL Del intronic 1 8 MSH6 child 15_45931270_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1491a5ca-327a-11e6-92d2-c259c225ee11 3_66331994_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 66331994 T TA 408 PASS SLC25A26 Ins intronic 1 6 MSH6 child 3_66331994_TTA_MSH6 1 1 - - - - Ins 1496998a-328a-11e6-b242-94e95d753391 1_178440252_ATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 1 178440252 AT A 360 PASS RASAL2 Del intronic 1 6 POLE child 1_178440252_ATA_POLE 1 1 1 T 5 T Repeat-mediated 14b064aa-328a-11e6-821d-8c090e01a414 13_67651986_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 67651986 TA T 1020 PASS PCDH9 Del intronic 1 9 MSH6 child 13_67651986_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 14b23868-32a1-11e6-a04f-c66a25c9da85 6_114742535_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 114742535 GA G 600 PASS - Del - 1 5 MSH6 child 6_114742535_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 14b491a8-3288-11e6-b093-c9c7b0dab373 2_48938446_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 48938446 C CT 420 PASS STON1-GTF2A1L Ins intronic 1 7 MSH6 child 2_48938446_CCT_MSH6 1 1 - - - - Ins 14b66168-328d-11e6-b2c7-5ecc977b3f23 2_118969229_ATGTA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 2 118969229 ATGT A 720 PASS - Del - 3 2 NEIL1 child 2_118969229_ATGTA_NEIL1 3 3 3 TGT 1 TGT Repeat-mediated 14cb1bc6-3274-11e6-ad8b-494f3cfdbd24 7_153005700_GGAGGTGCTGCTGCCAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 7 153005700 GGAGGTGCTGCTGCCA G 720 PASS - Del - 15 1 POLM child 7_153005700_GGAGGTGCTGCTGCCAG_POLM 15 >=10 0 - 0 - None 14d20080-3288-11e6-a96d-ca044530f757 21_41187468_ATTTA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 21 41187468 ATTT A 300 PASS - Del - 3 5 EXO1 child 21_41187468_ATTTA_EXO1 3 3 2 TT 0 - Microhomology-mediated 14d3d13c-3290-11e6-9d78-ae5c38e8a824 9_21935670_GTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 9 21935670 GT G 300 PASS - Del - 1 9 FANCC child 9_21935670_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 14d66a18-328c-11e6-bd84-429305ad5bc4 1_69414569_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 69414569 TA T 420 PASS - Del - 1 7 MSH6 child 1_69414569_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 14dc0ea0-3291-11e6-aaa2-31b34430f757 4_156693144_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 4 156693144 TA T 720 PASS GUCY1B3 Del intronic 1 1 POLE child 4_156693144_TAT_POLE 1 1 0 - 0 A None 14e4a610-3277-11e6-83cd-a472a178171f 4_146845550_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 146845550 AT A 660 PASS ZNF827 Del intronic 1 8 MSH6 child 4_146845550_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 14e7753e-3290-11e6-9401-04ed6f39e758 3_7145140_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 7145140 TC T 420 PASS GRM7 Del intronic 1 6 MSH6 child 3_7145140_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 14f938bc-3274-11e6-b539-d702ebb8d062 7_126879343_ACA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 126879343 AC A 840 PASS GRM8 Del intronic 1 4 NUDT1 child 7_126879343_ACA_NUDT1 1 1 1 C 3 C Repeat-mediated 1501872c-3271-11e6-8418-1c5942c4520d 3_108580489_ATCTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 108580489 ATCT A 360 PASS - Del - 3 2 MSH6 child 3_108580489_ATCTA_MSH6 3 3 3 TCT 1 TCT Repeat-mediated 1508f0b6-328a-11e6-8eee-76090e01a414 10_56992919_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 56992919 TA T 540 PASS PCDH15 Del intronic 1 5 MSH6 child 10_56992919_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 150e360c-328f-11e6-81d1-7ea5e7d0bdd7 3_144132271_AGTTTTATTCACA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 3 144132271 AGTTTTATTCAC A 600 PASS - Del - 11 1 POLM child 3_144132271_AGTTTTATTCACA_POLM 11 >=10 0 - 0 - None 151d555e-325a-11e6-8cd9-139b7872c165 3_194294095_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 194294095 GT G 300 PASS - Del - 1 6 MSH6 child 3_194294095_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 151dc6ae-3293-11e6-baa6-1a7219a91649 X_53686062_CCAA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA X 53686062 C CAA 480 PASS HUWE1 Ins intronic 2 3 NEIL1 child X_53686062_CCAA_NEIL1 2 2 - - - - Ins 1525a0b6-3272-11e6-be56-9cdfd7fd0a58 4_32148511_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 4 32148511 AT A 1020 PASS RP11-734I18.1 Del intronic 1 9 NUDT1 child 4_32148511_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 1527fd4e-3258-11e6-acc5-308412ae24cf 5_123772134_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 123772134 TA T 540 PASS - Del - 1 8 MSH6 child 5_123772134_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 15342a86-32a0-11e6-aea7-956725c9da85 3_107201443_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 107201443 TA T 540 PASS - Del - 1 5 MSH6 child 3_107201443_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 153bb72a-3254-11e6-8ebc-3ef212ae24cf 15_46094636_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 46094636 TA T 720 PASS RP11-718O11.1 Del intronic 1 9 MSH6 child 15_46094636_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1540ed72-3285-11e6-9daa-026ea2c71c31 14_89701345_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 89701345 CT C 940 PASS FOXN3 Del intronic 1 4 MSH6 child 14_89701345_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 1542bbca-3285-11e6-b093-c9c7b0dab373 2_54125495_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 54125495 TA T 600 PASS PSME4 Del splice_region 1 8 MSH6 child 2_54125495_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 154572ae-327e-11e6-a700-ff0e9ecd0b3a 4_27961391_TGAAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 4 27961391 TGAA T 600 PASS - Del - 3 4 POLM child 4_27961391_TGAAT_POLM 3 3 3 GAA 3 GAA Repeat-mediated 15495d4a-329e-11e6-91d0-016425c9da85 7_37770459_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 37770459 AT A 480 PASS GPR141 Del intronic 1 6 MSH6 child 7_37770459_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 1549e3b8-3290-11e6-bb65-33afe7d0bdd7 20_21064347_CCTTGTCTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 20 21064347 CCTTGTCT C 900 PASS LINC00237 Del downstream 7 1 POLM child 20_21064347_CCTTGTCTC_POLM 7 7 2 CT 0 - Microhomology-mediated 154ce3f0-3322-11e6-8d31-31bce7d0bdd7 1_111210119_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 1 111210119 AT A 300 PASS KCNA3 Del downstream 1 7 EXO1 child 1_111210119_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 15547278-329b-11e6-a5cf-205325c9da85 11_75656832_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 75656832 CT C 480 PASS UVRAG Del intronic 1 8 MSH6 child 11_75656832_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 15589bc6-327a-11e6-ab1d-16d9ecf1e924 20_15729051_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 15729051 AT A 300 PASS MACROD2 Del intronic 1 9 MSH6 child 20_15729051_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1559153a-328c-11e6-8459-82090e01a414 12_20204550_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 20204550 G GA 420 PASS RP11-664H17.1 Ins intronic 1 8 MSH6 child 12_20204550_GGA_MSH6 1 1 - - - - Ins 1559b47e-3294-11e6-b574-0154e7d0bdd7 20_34758972_GTGTCTCCCGGCG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 20 34758972 GTGTCTCCCGGC G 300 PASS EPB41L1 Del intronic 11 1 FANCC child 20_34758972_GTGTCTCCCGGCG_FANCC 11 >=10 5 TGTCT 0 - Microhomology-mediated 155db490-3274-11e6-bfb2-2749c225ee11 12_115628181_AAGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 115628181 AAG A 600 PASS - Del - 2 5 MSH6 child 12_115628181_AAGA_MSH6 2 2 2 AG 4 AG Repeat-mediated 155df2fe-329a-11e6-b74d-b59fcc638e3d 18_14734737_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 14734737 CT C 720 PASS - Del - 1 7 MSH6 child 18_14734737_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1561cb5a-3294-11e6-b963-13387a852e0e 3_68929633_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 3 68929633 GA G 540 PASS FAM19A4 Del intronic 1 5 CHK2 child 3_68929633_GAG_CHK2 1 1 1 A 4 A Repeat-mediated 15632bec-3273-11e6-8f33-a6d9cde16804 11_64689973_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 64689973 AC A 460 PASS PPP2R5B Del upstream 1 1 MSH6 child 11_64689973_ACA_MSH6 1 1 0 - 0 C None 1563507a-328e-11e6-bd84-429305ad5bc4 1_28778714_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 28778714 G GA 480 PASS PHACTR4 Ins intronic 1 9 MSH6 child 1_28778714_GGA_MSH6 1 1 - - - - Ins 1567b22c-3294-11e6-b574-0154e7d0bdd7 20_34759201_CCCTTCCAAGGCTGTGGGCTCCCCTAGAGCAGCTCTCATTGCTTTGTATCCTGGCCTGGAGTCAGCACTCATTGTCCTGTAAGTGACAGAGAGCCTTTATTTAACTATGGCTTTACGTTATACCCATAAAGCAGAGAGTAGTGGCTTGAGTGGAAAGCATTTCTGGGTGGGGAGGAGGTGATGGGGACCCAGGCCTTCCCTTCCTCCTCATCTTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 20 34759201 CCCTTCCAAGGCTGTGGGCTCCCCTAGAGCAGCTCTCATTGCTTTGTATCCTGGCCTGGAGTCAGCACTCATTGTCCTGTAAGTGACAGAGAGCCTTTATTTAACTATGGCTTTACGTTATACCCATAAAGCAGAGAGTAGTGGCTTGAGTGGAAAGCATTTCTGGGTGGGGAGGAGGTGATGGGGACCCAGGCCTTCCCTTCCTCCTCATCTT C 300 PASS EPB41L1 Del intronic 213 1 FANCC child 20_34759201_CCCTTCCAAGGCTGTGGGCTCCCCTAGAGCAGCTCTCATTGCTTTGTATCCTGGCCTGGAGTCAGCACTCATTGTCCTGTAAGTGACAGAGAGCCTTTATTTAACTATGGCTTTACGTTATACCCATAAAGCAGAGAGTAGTGGCTTGAGTGGAAAGCATTTCTGGGTGGGGAGGAGGTGATGGGGACCCAGGCCTTCCCTTCCTCCTCATCTTC_FANCC 213 >=10 5 CCTTC 0 - Microhomology-mediated 157127c8-32a1-11e6-bc2c-2a5e25c9da85 4_67467884_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 67467884 C CA 780 PASS - Ins - 1 6 MSH6 child 4_67467884_CCA_MSH6 1 1 - - - - Ins 1586c81c-326f-11e6-819e-9d1aa20b69d5 11_12866333_GATG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 12866333 GAT G 300 PASS TEAD1 Del intronic 2 2 EXO1 parent 11_12866333_GATG_EXO1 2 2 2 AT 1 AT Repeat-mediated 158ab266-3273-11e6-b332-88ba7d6a9fc7 15_55406549_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 55406549 CA C 480 PASS - Del - 1 7 MSH6 child 15_55406549_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 158b745e-329a-11e6-8d0f-075325c9da85 14_32084652_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 32084652 GC G 600 PASS NUBPL Del intronic 1 7 MSH6 child 14_32084652_GCG_MSH6 1 1 1 C 6 C Repeat-mediated 159bcdce-3324-11e6-ae91-9acb70cce0de 4_48310480_GAG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 4 48310480 GA G 360 PASS - Del - 1 5 POLE child 4_48310480_GAG_POLE 1 1 1 A 4 A Repeat-mediated 15aa584a-32a1-11e6-aea7-956725c9da85 3_175660567_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 175660567 TA T 399 PASS RP11-809F4.3 Del upstream 1 9 MSH6 child 3_175660567_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 15af2c2c-329b-11e6-8069-175325c9da85 12_71649550_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 71649550 CA C 540 PASS TSPAN8 Del intronic 1 9 MSH6 child 12_71649550_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 15b171d8-327a-11e6-ab1d-16d9ecf1e924 20_15829011_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 15829011 AG A 360 PASS MACROD2 Del intronic 1 8 MSH6 child 20_15829011_AGA_MSH6 1 1 1 G 7 G Repeat-mediated 15b7013a-3274-11e6-93da-67a49b6d3b88 14_28728658_GGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 14 28728658 G GT 300 PASS - Ins - 1 5 EXO1 child 14_28728658_GGT_EXO1 1 1 - - - - Ins 15b7247e-3320-11e6-8317-80eabbe6aa09 12_16935702_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 12 16935702 AT A 480 PASS RP11-239A17.1 Del upstream 1 5 POLE child 12_16935702_ATA_POLE 1 1 1 T 4 T Repeat-mediated 15cd0aca-3292-11e6-9749-1e2c0625f869 4_185040277_AACTA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 4 185040277 AACT A 540 PASS ENPP6 Del intronic 3 2 NEIL1 child 4_185040277_AACTA_NEIL1 3 3 3 ACT 1 ACT Repeat-mediated 15d1d092-325a-11e6-8cd9-139b7872c165 3_194424273_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 194424273 CT C 660 PASS AC090505.6 Del upstream 1 6 MSH6 child 3_194424273_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 15d75288-3278-11e6-b13f-1ffc79852e0e 22_23661896_TCT . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 22 23661896 TC T 417 PASS BCR Del downstream 1 5 POLM child 22_23661896_TCT_POLM 1 1 1 C 4 C Repeat-mediated 15db769e-329e-11e6-a5cf-205325c9da85 11_132137823_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 132137823 G GT 540 PASS NTM Ins intronic 1 7 MSH6 child 11_132137823_GGT_MSH6 1 1 - - - - Ins 15dd8432-3273-11e6-9a4f-14b6dcd214c4 4_182102820_TAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 4 182102820 TA T 780 PASS - Del - 1 3 POLM child 4_182102820_TAT_POLM 1 1 1 A 2 A Repeat-mediated 15e04bb4-328b-11e6-a2c2-fa8aa178171f 8_88607674_AATCCATTCAAAGTTTTTCATAACATGCATTTTCCATAAACTTTTTGAATTCTCCAGATGTGCCAGAATTTATTTATTCATTCACTTACTGCAGGGCATCTTGGTTGCTTCTAAGTTTTAGAAATTAAGAATAAAGCTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 8 88607674 AATCCATTCAAAGTTTTTCATAACATGCATTTTCCATAAACTTTTTGAATTCTCCAGATGTGCCAGAATTTATTTATTCATTCACTTACTGCAGGGCATCTTGGTTGCTTCTAAGTTTTAGAAATTAAGAATAAAGCT A 300 PASS - Del - 137 1 FANCC child 8_88607674_AATCCATTCAAAGTTTTTCATAACATGCATTTTCCATAAACTTTTTGAATTCTCCAGATGTGCCAGAATTTATTTATTCATTCACTTACTGCAGGGCATCTTGGTTGCTTCTAAGTTTTAGAAATTAAGAATAAAGCTA_FANCC 137 >=10 0 - 0 - None 15e13858-3286-11e6-821e-69f1bbe6aa09 16_60306577_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 60306577 C CT 600 PASS - Ins - 1 7 MSH6 child 16_60306577_CCT_MSH6 1 1 - - - - Ins 15e80dc0-3274-11e6-9e18-3a69671699ea 10_114345150_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 114345150 CT C 780 PASS VTI1A Del intronic 1 9 MSH6 child 10_114345150_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 15ecef6a-327a-11e6-8b89-96b6ecf1e924 5_79991970_GGA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 5 79991970 G GA 480 PASS MSH3 Ins intronic 1 1 CHK2 child 5_79991970_GGA_CHK2 1 1 - - - - Ins 15ed9ed2-3276-11e6-ab69-1c1607e9a829 9_115989922_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 115989922 TA T 720 PASS SLC31A1 Del intronic 1 8 MSH6 child 9_115989922_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 15f00b6e-328e-11e6-a278-48230e01a414 21_43743952_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 43743952 CT C 540 PASS - Del - 1 5 MSH6 child 21_43743952_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 15f7bbcc-3291-11e6-9c89-8d090e01a414 1_214993306_CCAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 214993306 C CAT 720 PASS - Ins - 2 7 MSH6 child 1_214993306_CCAT_MSH6 2 2 - - - - Ins 15fa4cb4-328e-11e6-b805-77090e01a414 2_54913864_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 54913864 C CA 360 PASS - Ins - 1 5 MSH6 child 2_54913864_CCA_MSH6 1 1 - - - - Ins 15fb704c-3254-11e6-8a2a-3af212ae24cf 16_31313351_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 31313351 CA C 420 PASS ITGAM Del intronic 1 9 MSH6 child 16_31313351_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 15fc0d64-3276-11e6-ab69-1c1607e9a829 9_115998265_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 115998265 AT A 420 PASS SLC31A1 Del intronic 1 7 MSH6 child 9_115998265_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 160a5ada-3286-11e6-9efa-64528e4678dd 6_140872055_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 6 140872055 CT C 840 PASS - Del - 1 7 EXO1 child 6_140872055_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 160e692a-3323-11e6-9ef4-36112eaed38e 9_98734037_AAGACTACCAGACTATGATATTAAATCCTTAACA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 9 98734037 AAGACTACCAGACTATGATATTAAATCCTTAAC A 660 PASS ERCC6L2 Del downstream 32 1 CHK2 child 9_98734037_AAGACTACCAGACTATGATATTAAATCCTTAACA_CHK2 32 >=10 1 A 0 - Microhomology-mediated 160e6eea-3281-11e6-a1d1-b18df4b7c17d 1_98184255_GTG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 98184255 GT G 480 PASS DPYD Del intronic 1 8 FANCC child 1_98184255_GTG_FANCC 1 1 1 T 7 T Repeat-mediated 1613aec0-328e-11e6-b43c-7ec36f39e758 16_63519907_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 63519907 G GT 540 PASS RP11-368L12.1 Ins intronic 1 5 MSH6 child 16_63519907_GGT_MSH6 1 1 - - - - Ins 161523e4-3294-11e6-9401-04ed6f39e758 3_85286512_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 85286512 C CA 660 PASS CADM2 Ins intronic 1 9 MSH6 child 3_85286512_CCA_MSH6 1 1 - - - - Ins 1625ad92-3288-11e6-a941-5a85a178171f 9_28441095_GTG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 9 28441095 GT G 540 PASS LINGO2 Del intronic 1 7 FANCC child 9_28441095_GTG_FANCC 1 1 1 T 6 T Repeat-mediated 1628f4e4-3273-11e6-a685-a844e7d0bdd7 10_22423515_GAG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 10 22423515 GA G 420 PASS - Del - 1 6 EXO1 child 10_22423515_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 16302c24-3277-11e6-9e4c-96041ea8ec0e 5_42576201_TTAAAATAAAATAAATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 5 42576201 T TAAAATAAAATAAATA 300 PASS GHR Ins intronic 15 0 FANCC child 5_42576201_TTAAAATAAAATAAATA_FANCC 15 >=10 - - - - Ins 1631df0e-328d-11e6-b6a6-1f1e0e01a414 4_39948703_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 39948703 GA G 360 PASS PDS5A Del intronic 1 9 MSH6 child 4_39948703_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1648d7dc-3296-11e6-9b8b-c9bbf530df36 20_5774824_CTCTTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 20 5774824 CTCTT C 840 PASS C20orf196 Del intronic 4 2 POLB child 20_5774824_CTCTTC_POLB 4 4 4 TCTT 1 TCTT Repeat-mediated 16497640-328e-11e6-8c87-38240e01a414 22_40806781_GCG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 40806781 GC G 720 PASS MKL1 Del 3prime_UTR_variant 1 9 MSH6 child 22_40806781_GCG_MSH6 1 1 1 C 8 C Repeat-mediated 16571030-3274-11e6-8418-1c5942c4520d 3_190550004_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 190550004 G GA 480 PASS - Ins - 1 8 MSH6 child 3_190550004_GGA_MSH6 1 1 - - - - Ins 1659cb1a-3281-11e6-b9fb-4420bce6aa09 9_21575053_CAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 9 21575053 CA C 420 PASS - Del - 1 9 POLM child 9_21575053_CAC_POLM 1 1 1 A 8 A Repeat-mediated 165a846e-3273-11e6-af00-e951e7d0bdd7 19_7955274_TTTGT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 19 7955274 TTTG T 300 PASS LRRC8E Del intronic 3 3 POLB child 19_7955274_TTTGT_POLB 3 3 3 TTG 2 TTG Repeat-mediated 165e14f0-3271-11e6-b923-6726694da5d2 5_118189219_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 118189219 TA T 420 PASS DTWD2 Del intronic 1 8 MSH6 child 5_118189219_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 165e7956-328d-11e6-bfa2-581f0e01a414 7_24565164_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 24565164 CA C 540 PASS - Del - 1 7 MSH6 child 7_24565164_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 1660d208-328f-11e6-bd84-429305ad5bc4 1_177789316_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 177789316 C CA 660 PASS - Ins - 1 5 MSH6 child 1_177789316_CCA_MSH6 1 1 - - - - Ins 16621b2c-3285-11e6-ad7a-723e51c54cdd 17_58378822_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 17 58378822 AT A 720 PASS USP32 Del intronic 1 6 EXO1 child 17_58378822_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 16642eb2-3276-11e6-81cf-37408a20d9eb 8_8612729_TATATCAATGTAGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 8612729 TATATCAATGTAG T 300 PASS RP11-211C9.1 Del intronic 12 1 EXO1 child 8_8612729_TATATCAATGTAGT_EXO1 12 >=10 3 ATA 0 - Microhomology-mediated 1667e7f0-3258-11e6-885f-d1947872c165 4_138030049_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 138030049 CT C 540 PASS RP11-138I17.1 Del intronic 1 8 MSH6 child 4_138030049_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 16687d12-3273-11e6-803d-c550e7d0bdd7 11_22525749_ACA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 11 22525749 AC A 480 PASS RP11-34N19.1 Del downstream 1 1 EXO1 child 11_22525749_ACA_EXO1 1 1 0 - 0 C None 166c91aa-329a-11e6-ae71-0c5325c9da85 1_14548287_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 14548287 TA T 540 PASS RP11-344F13.1 Del downstream 1 7 MSH6 child 1_14548287_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 166fd538-334c-11e6-9f94-b3873cfdbd24 6_88978570_ACTCTA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 6 88978570 ACTCT A 420 PASS - Del - 4 4 FANCC child 6_88978570_ACTCTA_FANCC 4 4 4 CTCT 2 CT Repeat-mediated 1675ccb2-3280-11e6-a6bc-51fe684da5d2 15_95230945_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 15 95230945 CA C 300 PASS - Del - 1 9 NEIL1 child 15_95230945_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 167c6120-3277-11e6-a71d-236235cec73b X_84144599_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 84144599 GA G 480 PASS - Del - 1 8 MSH6 child X_84144599_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 167de852-3276-11e6-8a72-7c4784482639 22_23187396_GAAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 22 23187396 GAA G 420 PASS - Del - 2 3 EXO1 child 22_23187396_GAAG_EXO1 2 2 1 A 0 - Microhomology-mediated 16804a80-3275-11e6-b6cd-6bb47098ee92 21_29994510_GACAAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 21 29994510 GACAA G 300 PASS AF131217.1 Del intronic 4 1 FANCC child 21_29994510_GACAAG_FANCC 4 4 3 ACA 0 - Microhomology-mediated 16851f50-328f-11e6-9d24-ade56f39e758 7_33294716_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 33294716 GT G 840 PASS BBS9 Del intronic 1 7 MSH6 child 7_33294716_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 16924e3a-32a0-11e6-aea7-956725c9da85 3_107637162_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 107637162 AT A 660 PASS LINC00636 Del intronic 1 4 MSH6 child 3_107637162_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 16978832-3278-11e6-b7b5-ce91a78019ab 5_109014470_CAC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 109014470 CA C 300 PASS - Del - 1 9 NEIL1 child 5_109014470_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 169d048a-3258-11e6-91d3-a68412ae24cf 7_122081276_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 122081276 GA G 480 PASS CADPS2 Del intronic 1 8 MSH6 child 7_122081276_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 16aa0ca6-328b-11e6-a80b-87090e01a414 11_113146295_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 113146295 CT C 540 PASS NCAM1 Del 3prime_UTR_variant 1 5 MSH6 child 11_113146295_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 16b1eac0-3290-11e6-bb1e-70e16f39e758 X_145199225_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 145199225 CA C 420 PASS - Del - 1 9 MSH6 child X_145199225_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 16b28864-3280-11e6-aba2-2800bce6aa09 18_71390250_GTG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 18 71390250 GT G 360 PASS - Del - 1 9 POLM child 18_71390250_GTG_POLM 1 1 1 T 8 T Repeat-mediated 16b44f0a-3276-11e6-83cd-a472a178171f 4_74243196_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 74243196 GA G 420 PASS - Del - 1 9 MSH6 child 4_74243196_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 16b65164-3290-11e6-9230-fb250e01a414 3_142414030_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 142414030 AT A 600 PASS PLS1 Del intronic 1 9 MSH6 child 3_142414030_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 16ba0bb6-329e-11e6-a5cf-205325c9da85 11_132540628_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 132540628 A AT 300 PASS OPCML Ins intronic 1 8 MSH6 child 11_132540628_AAT_MSH6 1 1 - - - - Ins 16c11a6c-328c-11e6-bd84-429305ad5bc4 1_69807616_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 69807616 AT A 387 PASS - Del - 1 9 MSH6 child 1_69807616_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 16cab554-3287-11e6-8358-6179a178171f 17_74483700_TCAGAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 17 74483700 TCAGA T 463 PASS RHBDF2 Del intronic 4 2 FANCC child 17_74483700_TCAGAT_FANCC 4 4 4 CAGA 1 CAGA Repeat-mediated 16d34504-3258-11e6-885f-d1947872c165 4_138116508_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 138116508 CT C 660 PASS RP11-138I17.1 Del intronic 1 9 MSH6 child 4_138116508_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 16df0a42-3258-11e6-91d3-a68412ae24cf 7_122139951_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 122139951 TA T 300 PASS CADPS2 Del intronic 1 7 MSH6 child 7_122139951_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 16df14ca-3257-11e6-b4d0-327a7872c165 11_114989202_CCATAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 114989202 C CATAT 300 PASS - Ins - 4 2 MSH6 child 11_114989202_CCATAT_MSH6 4 4 - - - - Ins 16e149fa-3290-11e6-bb1e-70e16f39e758 X_145324946_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 145324946 GT G 420 PASS - Del - 1 9 MSH6 child X_145324946_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 16e4c8f6-3271-11e6-b89d-b2d6b0dab373 4_108137027_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 108137027 TA T 300 PASS - Del - 1 7 MSH6 child 4_108137027_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 16f28b78-328d-11e6-8459-82090e01a414 12_87548669_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 87548669 G GA 540 PASS - Ins - 1 7 MSH6 child 12_87548669_GGA_MSH6 1 1 - - - - Ins 16f81168-3276-11e6-96f3-ccbe99696edf 12_99550218_CCTTCTGTGGTTTTCTGTTGTC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 12 99550218 CCTTCTGTGGTTTTCTGTTGT C 660 PASS ANKS1B Del intronic 20 1 POLM child 12_99550218_CCTTCTGTGGTTTTCTGTTGTC_POLM 20 >=10 4 CTTC 0 - Microhomology-mediated 16ffade6-326d-11e6-adc2-b7204b47a305 18_41630474_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 41630474 CA C 360 PASS - Del - 1 8 MSH6 child 18_41630474_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 1703bc96-3273-11e6-b636-ce0fead19ece 12_105948499_CTC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 12 105948499 CT C 360 PASS - Del - 1 7 NEIL1 child 12_105948499_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 1712d5b6-328f-11e6-9230-fb250e01a414 3_74836060_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 74836060 TA T 540 PASS - Del - 1 8 MSH6 child 3_74836060_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1718b19c-3272-11e6-bf40-308964f80bad 4_75387461_AAG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 4 75387461 A AG 720 PASS - Ins - 1 1 POLM parent 4_75387461_AAG_POLM 1 1 - - - - Ins 171b975e-326d-11e6-b306-b5204b47a305 2_42406174_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 42406174 AG A 960 PASS EML4 Del intronic 1 7 MSH6 child 2_42406174_AGA_MSH6 1 1 1 G 6 G Repeat-mediated 1722d84a-328e-11e6-b6a6-1f1e0e01a414 4_100805722_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 100805722 CA C 540 PASS LAMTOR3 Del intronic 1 9 MSH6 child 4_100805722_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 172657fe-327a-11e6-9e0f-7959cab49462 7_149554472_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 149554472 A AT 480 PASS ZNF862 Ins intronic 1 7 MSH6 child 7_149554472_AAT_MSH6 1 1 - - - - Ins 1736b660-3290-11e6-94e1-63e1191589db 3_191156696_TAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 191156696 TA T 540 PASS - Del - 1 7 FANCC child 3_191156696_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 173e5910-3272-11e6-b08b-a578ecf1e924 11_76267150_GGTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 11 76267150 G GTC 480 PASS C11orf30 Ins downstream 2 1 NUDT1 child 11_76267150_GGTC_NUDT1 2 2 - - - - Ins 173e7378-3277-11e6-b872-fc996f39e758 8_125421959_CAGGC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 8 125421959 CAGG C 300 PASS - Del - 3 1 NEIL1 child 8_125421959_CAGGC_NEIL1 3 3 2 AG 0 - Microhomology-mediated 174b999a-329f-11e6-94ca-0aaecc638e3d X_92949006_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 92949006 AT A 420 PASS FAM133A Del intronic 1 8 MSH6 child X_92949006_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 174f3044-325b-11e6-8b28-55ad7872c165 20_34333486_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 34333486 AT A 340 PASS RBM39 Del upstream 1 9 MSH6 child 20_34333486_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 175420be-3287-11e6-afcf-0311bce6aa09 9_140927516_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 140927516 CT C 660 PASS CACNA1B Del intronic 1 6 MSH6 child 9_140927516_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 1764fac2-3324-11e6-9b79-b58f0cfb5812 1_159319704_CCA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 1 159319704 C CA 720 PASS - Ins - 1 6 POLE child 1_159319704_CCA_POLE 1 1 - - - - Ins 17720412-334a-11e6-be18-768ca20b69d5 3_87067527_AACCAATGCAGAGAAGTCCTTAAAGGACCTGA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 87067527 AACCAATGCAGAGAAGTCCTTAAAGGACCTG A 300 PASS - Del - 30 1 FANCC child 3_87067527_AACCAATGCAGAGAAGTCCTTAAAGGACCTGA_FANCC 30 >=10 1 A 0 - Microhomology-mediated 1778a13e-3285-11e6-be43-0a6ea2c71c31 10_63682022_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 63682022 AG A 1380 PASS ARID5B Del intronic 1 2 MSH6 child 10_63682022_AGA_MSH6 1 1 1 G 1 G Repeat-mediated 177b572c-328e-11e6-ad95-4e7f30158702 X_129322642_TGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTACAACCTCTGTGTCCCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTACCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTCAAACTCCTGACCTCAAGTGAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTCCTATTTTATGTTTTTGAGACAGGATCTCACTCTGTCT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA X 129322642 TGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTACAACCTCTGTGTCCCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTACCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTCAAACTCCTGACCTCAAGTGAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTCCTATTTTATGTTTTTGAGACAGGATCTCACTCTGTC T 300 PASS RAB33A Del downstream 286 1 POLM child X_129322642_TGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTACAACCTCTGTGTCCCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGCAGCTGGGATTACAAGTGTACCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTCAAACTCCTGACCTCAAGTGAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTCCTATTTTATGTTTTTGAGACAGGATCTCACTCTGTCT_POLM 286 >=10 24 GCCCAGGCTGGAGTGCAGTGGCAC 0 - Microhomology-mediated 1784be84-327f-11e6-85d6-b940d5957ca3 10_122047903_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 10 122047903 CT C 420 PASS - Del - 1 8 NEIL1 child 10_122047903_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated 1788daf2-329b-11e6-aca6-b39fcc638e3d 2_86231023_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 86231023 GA G 1020 PASS - Del - 1 5 MSH6 child 2_86231023_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 17915ae0-3275-11e6-b548-a01fd9b4fa2c 22_28996299_CGC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 22 28996299 CG C 360 PASS TTC28 Del intronic 1 6 MSH6 parent 22_28996299_CGC_MSH6 1 1 1 G 5 G Repeat-mediated 179d64aa-328b-11e6-a42b-8cc430158702 18_68836171_ATA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 18 68836171 AT A 300 PASS - Del - 1 6 POLM child 18_68836171_ATA_POLM 1 1 1 T 5 T Repeat-mediated 179ff316-3284-11e6-ba12-fc09694da5d2 3_38241199_AAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 3 38241199 A AT 300 PASS OXSR1 Ins intronic 1 7 NEIL1 child 3_38241199_AAT_NEIL1 1 1 - - - - Ins 17a4d950-3291-11e6-919e-92c36f39e758 2_128109859_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 128109859 C CA 480 PASS MAP3K2 Ins intronic 1 6 MSH6 child 2_128109859_CCA_MSH6 1 1 - - - - Ins 17a6898e-3274-11e6-a5d0-4fd14a47a305 2_150928269_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 150928269 TA T 420 PASS - Del - 1 8 MSH6 child 2_150928269_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 17b59408-326d-11e6-acc7-e55219a91649 1_56231718_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 56231718 TA T 360 PASS - Del - 1 8 MSH6 child 1_56231718_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 17bbdd24-329d-11e6-a5cf-e5abcc638e3d 9_72559888_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 72559888 TA T 540 PASS - Del - 1 9 MSH6 child 9_72559888_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 17cdcd44-328a-11e6-a70a-47793adbad45 3_37471195_AGGA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 37471195 AGG A 874 PASS C3orf35 Del intronic 2 3 NUDT1 parent 3_37471195_AGGA_NUDT1 2 2 1 G 0 - Microhomology-mediated 17dd7bd0-329f-11e6-94ca-0aaecc638e3d X_93167259_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 93167259 CT C 660 PASS - Del - 1 8 MSH6 child X_93167259_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 17e9c2a0-3272-11e6-b89d-b2d6b0dab373 4_174401915_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 174401915 AT A 300 PASS - Del - 1 9 MSH6 child 4_174401915_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 17f2eda8-328b-11e6-a8ac-a28ea2c71c31 3_159946567_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 159946567 G GT 900 PASS C3orf80 Ins downstream 1 5 MSH6 child 3_159946567_GGT_MSH6 1 1 - - - - Ins 17f6cfdc-3258-11e6-885f-d1947872c165 4_138361608_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 138361608 TA T 300 PASS - Del - 1 9 MSH6 child 4_138361608_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 18111b42-328c-11e6-8106-81c36f39e758 19_30260725_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 30260725 AT A 540 PASS - Del - 1 9 MSH6 child 19_30260725_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1816d24c-3324-11e6-85fa-8f2b51c54cdd 7_53643435_TAT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 7 53643435 TA T 720 PASS - Del - 1 9 CHK2 parent 7_53643435_TAT_CHK2 1 1 1 A 8 A Repeat-mediated 181cdd02-326d-11e6-b9f4-5d1d694da5d2 14_54305159_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 54305159 TA T 354 PASS AL162759.1 Del intronic 1 7 MSH6 child 14_54305159_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 182c58fc-326f-11e6-a539-0e5542c4520d 7_4066214_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 4066214 GA G 420 PASS SDK1 Del intronic 1 9 MSH6 child 7_4066214_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 183b228a-329a-11e6-ae71-0c5325c9da85 1_14903289_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 14903289 CA C 540 PASS - Del - 1 9 MSH6 child 1_14903289_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 183fe0bc-3287-11e6-a48c-4ba538e8a824 16_10111510_CTGC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 16 10111510 CTG C 660 PASS GRIN2A Del intronic 2 2 NUDT1 parent 16_10111510_CTGC_NUDT1 2 2 2 TG 1 TG Repeat-mediated 1846a288-3275-11e6-b2ab-fba69cdf095d X_50422497_CTTATGTTTAATATACTTTTATTGAAC . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA X 50422497 CTTATGTTTAATATACTTTTATTGAA C 360 PASS SHROOM4 Del intronic 25 1 NUDT1 child X_50422497_CTTATGTTTAATATACTTTTATTGAAC_NUDT1 25 >=10 1 T 0 - Microhomology-mediated 18471e98-3275-11e6-90fa-056466a58581 4_97719707_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 97719707 CA C 255 PASS RP11-145G20.1 Del intronic 1 6 FANCC child 4_97719707_CAC_FANCC 1 1 1 A 5 A Repeat-mediated 18522b42-328b-11e6-a100-84090e01a414 18_41712941_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 41712941 G GA 420 PASS - Ins - 1 8 MSH6 child 18_41712941_GGA_MSH6 1 1 - - - - Ins 1856f82a-3259-11e6-8340-da9012ae24cf 6_35524113_TCACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAACCTCCCCAGTAGCTGGGACTACAGAGGCATGCCACCCTAACCGCCTAATTTTTAAATTTTTTGTAGAGATGAGGTTTCACTATGTTTCCCAAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCTCTCTAGTAGCTGGTACTATAGGCATATGCCACCACACGGGCTAATTTTATTTTATTTTATTTTATTTATTTATTTACTGTTTATTTATTGAGACAGAGTCTCGCTCTGCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 35524113 TCACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAACCTCCCCAGTAGCTGGGACTACAGAGGCATGCCACCCTAACCGCCTAATTTTTAAATTTTTTGTAGAGATGAGGTTTCACTATGTTTCCCAAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCTCTCTAGTAGCTGGTACTATAGGCATATGCCACCACACGGGCTAATTTTATTTTATTTTATTTTATTTATTTATTTACTGTTTATTTATTGAGACAGAGTCTCGCTCTGC T 272 PASS - Del - 327 1 MSH6 child 6_35524113_TCACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAACCTCCCCAGTAGCTGGGACTACAGAGGCATGCCACCCTAACCGCCTAATTTTTAAATTTTTTGTAGAGATGAGGTTTCACTATGTTTCCCAAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCTCTCTAGTAGCTGGTACTATAGGCATATGCCACCACACGGGCTAATTTTATTTTATTTTATTTTATTTATTTATTTACTGTTTATTTATTGAGACAGAGTCTCGCTCTGCT_MSH6 327 >=10 22 CACCCAGGCTGGAGTGCAGTGG 0 - Microhomology-mediated 185820ea-328d-11e6-8e48-791e0e01a414 8_38694161_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 38694161 AT A 300 PASS TACC1 Del intronic 1 7 MSH6 child 8_38694161_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1861e626-3287-11e6-a031-e026038949d4 20_24048699_ATTTGTTCTGATACCCAGCCTAGTGGCTATAATGTTATATCTCACTGGGGTTTTTAATTGTGTTTGCCTAGTGAAAAATGATGTCGAGTATTTTTTGCCTGTTTTTAAATTGGATTACTTGTCTTTTTTATGATTGAGA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 20 24048699 ATTTGTTCTGATACCCAGCCTAGTGGCTATAATGTTATATCTCACTGGGGTTTTTAATTGTGTTTGCCTAGTGAAAAATGATGTCGAGTATTTTTTGCCTGTTTTTAAATTGGATTACTTGTCTTTTTTATGATTGAG A 300 PASS - Del - 137 1 POLM child 20_24048699_ATTTGTTCTGATACCCAGCCTAGTGGCTATAATGTTATATCTCACTGGGGTTTTTAATTGTGTTTGCCTAGTGAAAAATGATGTCGAGTATTTTTTGCCTGTTTTTAAATTGGATTACTTGTCTTTTTTATGATTGAGA_POLM 137 >=10 2 TT 0 - Microhomology-mediated 18626b1a-326d-11e6-9d68-ac9acab49462 15_44974971_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 44974971 TA T 360 PASS - Del - 1 8 MSH6 child 15_44974971_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1866b756-329a-11e6-b129-195325c9da85 16_12922240_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 12922240 AT A 480 PASS - Del - 1 9 MSH6 child 16_12922240_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1877b014-32a0-11e6-aea7-956725c9da85 3_108100325_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 108100325 GT G 720 PASS MYH15 Del 3prime_UTR_variant 1 5 MSH6 child 3_108100325_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 187cd8b2-3275-11e6-ae98-bb49694da5d2 19_12163232_GAG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 19 12163232 GA G 360 PASS ZNF878 Del intronic 1 9 POLM child 19_12163232_GAG_POLM 1 1 1 A 8 A Repeat-mediated 18835058-3288-11e6-9d41-22c435cec73b 5_150740436_TGT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 5 150740436 TG T 780 PASS - Del - 1 2 POLE child 5_150740436_TGT_POLE 1 1 1 G 1 G Repeat-mediated 188609c6-3254-11e6-89d3-d29498816cf3 2_62293367_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 62293367 CT C 840 PASS COMMD1 Del intronic 1 9 MSH6 child 2_62293367_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 188c456e-328d-11e6-8952-77c36f39e758 10_100877889_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 100877889 CA C 480 PASS HPSE2 Del intronic 1 9 MSH6 child 10_100877889_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 18905014-3323-11e6-ba3d-227d3adbad45 4_91424021_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 4 91424021 AT A 360 PASS CCSER1 Del intronic 1 9 CHK2 child 4_91424021_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 1891d54a-328a-11e6-9021-40b47098ee92 13_100305925_CTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 13 100305925 CT C 600 PASS CLYBL Del intronic 1 9 NUDT1 child 13_100305925_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 18a3830e-329d-11e6-ae71-0c5325c9da85 1_189382227_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 189382227 CT C 788 PASS - Del - 1 7 MSH6 child 1_189382227_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 18a42e14-328c-11e6-ac7a-a3c36f39e758 18_39188792_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 39188792 AT A 660 PASS RP11-142I20.1 Del intronic 1 7 MSH6 child 18_39188792_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 18ac2978-328e-11e6-bc12-79ae12ae24cf 8_76252540_CTC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 8 76252540 CT C 300 PASS - Del - 1 9 CHK2 child 8_76252540_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 18adf788-328b-11e6-b9eb-c78fa2c71c31 6_157489976_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 157489976 A AT 780 PASS ARID1B Ins intronic 1 6 MSH6 child 6_157489976_AAT_MSH6 1 1 - - - - Ins 18b2cd4e-329a-11e6-a0ea-135325c9da85 15_27925705_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 27925705 CT C 720 PASS RP11-30G8.1 Del downstream 1 7 MSH6 child 15_27925705_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 18b62d2e-3257-11e6-91d3-a68412ae24cf 7_43018428_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 43018428 GT G 360 PASS AC005537.2 Del intronic 1 8 MSH6 child 7_43018428_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 18b99630-3275-11e6-90ac-b4c37872c165 8_3835933_AAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 3835933 A AT 660 PASS CSMD1 Ins intronic 1 7 NEIL1 child 8_3835933_AAT_NEIL1 1 1 - - - - Ins 18bb05c8-328a-11e6-bbaf-7c090e01a414 19_35343097_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 35343097 CT C 600 PASS CTC-523E23.5 Del nc_variant 1 9 MSH6 child 19_35343097_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 18bbe32a-3281-11e6-bd52-75299ecd0b3a 11_61154933_CAGAGCAC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 11 61154933 CAGAGCA C 300 PASS TMEM216 Del upstream 6 1 POLB child 11_61154933_CAGAGCAC_POLB 6 6 3 AGA 0 - Microhomology-mediated 18c7a152-3325-11e6-841a-c49690e2c2e6 6_25767976_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 6 25767976 AT A 300 PASS SLC17A4 Del intronic 1 7 POLE child 6_25767976_ATA_POLE 1 1 1 T 6 T Repeat-mediated 18d02a70-3271-11e6-8418-1c5942c4520d 3_109784799_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 109784799 GA G 420 PASS - Del - 1 8 MSH6 child 3_109784799_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 18d57150-3321-11e6-ae98-b2b5fa52e078 2_40577668_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 40577668 AT A 360 PASS SLC8A1 Del intronic 1 6 EXO1 child 2_40577668_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 18de182c-3287-11e6-b32c-fd87a2c71c31 5_92192845_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 92192845 AT A 600 PASS - Del - 1 7 MSH6 child 5_92192845_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 18de6ff4-328f-11e6-9d97-efe56f39e758 4_34154863_AATTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 34154863 AATT A 420 PASS RP11-548L20.1 Del intronic 3 2 MSH6 child 4_34154863_AATTA_MSH6 3 3 3 ATT 1 ATT Repeat-mediated 18e88e9a-3270-11e6-93c5-fd61ecf1e924 11_109353031_CAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 11 109353031 CA C 600 PASS - Del - 1 6 NEIL1 child 11_109353031_CAC_NEIL1 1 1 1 A 5 A Repeat-mediated 18e9cb2e-3271-11e6-aff7-9ad52aaffa45 1_190394400_CATC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 1 190394400 CAT C 600 PASS BRINP3 Del intronic 2 2 NEIL1 child 1_190394400_CATC_NEIL1 2 2 2 AT 1 AT Repeat-mediated 18f22930-329a-11e6-b74d-b59fcc638e3d 18_18683578_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 18683578 AT A 360 PASS ROCK1 Del intronic 1 8 MSH6 child 18_18683578_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 19062e70-3291-11e6-b77d-2eef6f39e758 6_36890968_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 36890968 GA G 360 PASS C6orf89 Del intronic 1 8 MSH6 child 6_36890968_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1909565e-325a-11e6-acc5-308412ae24cf 5_88783029_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 88783029 T TA 720 PASS - Ins - 1 7 MSH6 child 5_88783029_TTA_MSH6 1 1 - - - - Ins 1910cc54-328c-11e6-8106-81c36f39e758 19_30388359_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 30388359 CA C 420 PASS - Del - 1 8 MSH6 child 19_30388359_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 191d3ff4-328f-11e6-9d24-ade56f39e758 7_34286526_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 34286526 CT C 360 PASS AC009262.2 Del intronic 1 9 MSH6 child 7_34286526_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 19238c5e-3322-11e6-9802-cf66694da5d2 12_33301293_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 12 33301293 CA C 360 PASS - Del - 1 3 EXO1 child 12_33301293_CAC_EXO1 1 1 1 A 2 A Repeat-mediated 19298d78-3324-11e6-925a-9564694da5d2 2_80781002_ACATGAATT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 2 80781002 ACATG AATT 420 PASS CTNNA2 Complex intronic 4 0 POLE child 2_80781002_ACATGAATT_POLE 1 1 - - - - Complex 19362f76-3291-11e6-9d97-efe56f39e758 4_166572290_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 166572290 AT A 300 PASS - Del - 1 9 MSH6 child 4_166572290_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1938d17e-329e-11e6-91d0-016425c9da85 7_38708101_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 38708101 CT C 480 PASS - Del - 1 7 MSH6 child 7_38708101_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 19411f26-329b-11e6-9048-b49fcc638e3d 17_53958413_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 53958413 GA G 480 PASS - Del - 1 9 MSH6 child 17_53958413_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1943343e-3285-11e6-8b67-086ea2c71c31 1_53694257_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 53694257 CT C 540 PASS MAGOH Del intronic 1 6 MSH6 child 1_53694257_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 194620da-3281-11e6-83f7-b4262eaed38e 15_66409233_CGTGC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 15 66409233 CGTG C 600 PASS MEGF11 Del intronic 3 1 POLB child 15_66409233_CGTGC_POLB 3 3 0 - 0 - None 1951e682-3271-11e6-b5d9-38f41da8ec0e 15_34244443_GAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 15 34244443 GA G 300 PASS AVEN Del intronic 1 8 FANCC child 15_34244443_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 1954ac08-329b-11e6-8d0f-075325c9da85 14_90617328_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 90617328 GA G 720 PASS KCNK13 Del intronic 1 9 MSH6 child 14_90617328_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 195e2f86-329a-11e6-a5cf-205325c9da85 11_15530073_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 15530073 AT A 540 PASS - Del - 1 9 MSH6 child 11_15530073_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1960a494-3288-11e6-8404-8e1fbce6aa09 8_88328849_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 88328849 CT C 360 PASS CNBD1 Del intronic 1 9 MSH6 child 8_88328849_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 196525f2-326d-11e6-b2ac-b6204b47a305 17_28390551_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 28390551 AG A 360 PASS EFCAB5 Del intronic 1 5 MSH6 child 17_28390551_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 196c015a-3273-11e6-94cc-1ec335cec73b 19_29704467_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 29704467 AT A 600 PASS UQCRFS1 Del upstream 1 5 MSH6 child 19_29704467_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 19737bc2-329d-11e6-b696-dd6225c9da85 5_1661812_CGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 1661812 CG C 720 PASS - Del - 1 6 MSH6 child 5_1661812_CGC_MSH6 1 1 1 G 5 G Repeat-mediated 197dc198-3349-11e6-b3a1-d0f2137bb207 5_63367060_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 5 63367060 AT A 420 PASS - Del - 1 7 FANCC child 5_63367060_ATA_FANCC 1 1 1 T 6 T Repeat-mediated 198150e8-3271-11e6-b923-6726694da5d2 5_119204016_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 119204016 CT C 360 PASS - Del - 1 9 MSH6 child 5_119204016_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 1982ab50-3285-11e6-b930-8f14987b3f23 4_54436894_CAC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 4 54436894 CA C 253 PASS LNX1 Del intronic 1 9 NEIL1 parent 4_54436894_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 1987b6ca-32a0-11e6-a04f-c66a25c9da85 6_48053487_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 48053487 AT A 720 PASS - Del - 1 6 MSH6 child 6_48053487_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 198db466-3292-11e6-984b-997830158702 1_90655685_TGT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 1 90655685 TG T 480 PASS - Del - 1 1 NUDT1 child 1_90655685_TGT_NUDT1 1 1 0 - 0 G None 199caef0-329a-11e6-a5cf-205325c9da85 11_15607624_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 15607624 AT A 540 PASS RP11-531H8.1 Del intronic 1 4 MSH6 child 11_15607624_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 19a2e280-3271-11e6-961c-b84b3cfdbd24 18_3339161_GTG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 18 3339161 GT G 660 PASS - Del - 1 7 MSH6 parent 18_3339161_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 19a76c30-3279-11e6-9e0f-7959cab49462 7_78689402_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 78689402 C CT 300 PASS MAGI2 Ins intronic 1 6 MSH6 child 7_78689402_CCT_MSH6 1 1 - - - - Ins 19aa3322-3254-11e6-89d3-d29498816cf3 2_62788068_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 62788068 AT A 360 PASS - Del - 1 8 MSH6 child 2_62788068_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 19afa07a-3284-11e6-96d6-e945ee3c4f5d 3_29238964_GACAATTATACATTGGTTTTTAATGTCATTGTGAGAATTTAATGAGATAATATGTGTAAAGCTGTTGAACACAGAATTACTATTTATAAATCACTTAATAAATACAAATTATATTAAAATAGGAAAGAAATCAATTTCAATTTGGGTCTTCAAAGAAGGCTTACAGACTCCCAGTTTATACTCTTAGGGTGGCATCTGTTTTTAAGACCCTGAGACTCAGGCTTTAAACTGTTGAGAACCCCTCAGGTACAAAAAGACTTATTTGTGTCTGCCTGGAAATTTCTACCTTTCTCCTTTATCTGCTGTTTAACATTCATGCTTTAGTAGACCAAGACAAGGAAAGCATTAAAACTGTGCCAAGATTTAGTCAATTATAGTAAGGTCTAAGATTTAAACGCTATTTTTTTCATATGCTTTTTTCCAAGTAGCAGTGTTTTCCAGATAAAATTGAGATTCCTGTTCTGCTTCTCTCCCTTATGACTTTTATTTTTCACACATGGTATGAAAGACTAAGATTTCATCTGGTATACTTCGTTCCCTTCATTTAGTTCCTAGCCATGATGGAGTATCCCTTCCCATGACCTTTCCTCTCTCCTAATAGTCCCTTACACCATTTCCATAATGCATGGCTTGATACTACTTAATTCTGAGTGTTCCAAACAGATGTTCTGGGGAAAGGATTCAGCCATCCATCTGGGCTGGGTCTATACCTCCCATGGCAGATGGTTAAATTTCATAAGACATTGTTGGAAATCCAGGCTGTGGTATTTTATGCTGTTCTACCCAGTTTCGTATGTTTGATTTTTAAAAAAATCTCCTGCCGTGATAATTATTAAAAATTAACATTGAAGTTGATTAAATGCAATAAATGTCACATTAAATAGTAAATTTTAAAATTATCAATAAAATATTAACTTATAGAAATAAGCTAGATTCAAATATTTTAGTTGCTAGCATGGTGTCTTATACAGTTTGGTTATGATCACTGGGGCAAGATTAAACTCTCTTTATAATAGGGAATCTGACACATGAGAAGAATTTCAAGATTTTTTTTTTCCAAACATGGCACCATTCTTG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 3 29238964 GACAATTATACATTGGTTTTTAATGTCATTGTGAGAATTTAATGAGATAATATGTGTAAAGCTGTTGAACACAGAATTACTATTTATAAATCACTTAATAAATACAAATTATATTAAAATAGGAAAGAAATCAATTTCAATTTGGGTCTTCAAAGAAGGCTTACAGACTCCCAGTTTATACTCTTAGGGTGGCATCTGTTTTTAAGACCCTGAGACTCAGGCTTTAAACTGTTGAGAACCCCTCAGGTACAAAAAGACTTATTTGTGTCTGCCTGGAAATTTCTACCTTTCTCCTTTATCTGCTGTTTAACATTCATGCTTTAGTAGACCAAGACAAGGAAAGCATTAAAACTGTGCCAAGATTTAGTCAATTATAGTAAGGTCTAAGATTTAAACGCTATTTTTTTCATATGCTTTTTTCCAAGTAGCAGTGTTTTCCAGATAAAATTGAGATTCCTGTTCTGCTTCTCTCCCTTATGACTTTTATTTTTCACACATGGTATGAAAGACTAAGATTTCATCTGGTATACTTCGTTCCCTTCATTTAGTTCCTAGCCATGATGGAGTATCCCTTCCCATGACCTTTCCTCTCTCCTAATAGTCCCTTACACCATTTCCATAATGCATGGCTTGATACTACTTAATTCTGAGTGTTCCAAACAGATGTTCTGGGGAAAGGATTCAGCCATCCATCTGGGCTGGGTCTATACCTCCCATGGCAGATGGTTAAATTTCATAAGACATTGTTGGAAATCCAGGCTGTGGTATTTTATGCTGTTCTACCCAGTTTCGTATGTTTGATTTTTAAAAAAATCTCCTGCCGTGATAATTATTAAAAATTAACATTGAAGTTGATTAAATGCAATAAATGTCACATTAAATAGTAAATTTTAAAATTATCAATAAAATATTAACTTATAGAAATAAGCTAGATTCAAATATTTTAGTTGCTAGCATGGTGTCTTATACAGTTTGGTTATGATCACTGGGGCAAGATTAAACTCTCTTTATAATAGGGAATCTGACACATGAGAAGAATTTCAAGATTTTTTTTTTCCAAACATGGCACCATTCTT G 360 PASS - Del - 1075 1 POLB child 3_29238964_GACAATTATACATTGGTTTTTAATGTCATTGTGAGAATTTAATGAGATAATATGTGTAAAGCTGTTGAACACAGAATTACTATTTATAAATCACTTAATAAATACAAATTATATTAAAATAGGAAAGAAATCAATTTCAATTTGGGTCTTCAAAGAAGGCTTACAGACTCCCAGTTTATACTCTTAGGGTGGCATCTGTTTTTAAGACCCTGAGACTCAGGCTTTAAACTGTTGAGAACCCCTCAGGTACAAAAAGACTTATTTGTGTCTGCCTGGAAATTTCTACCTTTCTCCTTTATCTGCTGTTTAACATTCATGCTTTAGTAGACCAAGACAAGGAAAGCATTAAAACTGTGCCAAGATTTAGTCAATTATAGTAAGGTCTAAGATTTAAACGCTATTTTTTTCATATGCTTTTTTCCAAGTAGCAGTGTTTTCCAGATAAAATTGAGATTCCTGTTCTGCTTCTCTCCCTTATGACTTTTATTTTTCACACATGGTATGAAAGACTAAGATTTCATCTGGTATACTTCGTTCCCTTCATTTAGTTCCTAGCCATGATGGAGTATCCCTTCCCATGACCTTTCCTCTCTCCTAATAGTCCCTTACACCATTTCCATAATGCATGGCTTGATACTACTTAATTCTGAGTGTTCCAAACAGATGTTCTGGGGAAAGGATTCAGCCATCCATCTGGGCTGGGTCTATACCTCCCATGGCAGATGGTTAAATTTCATAAGACATTGTTGGAAATCCAGGCTGTGGTATTTTATGCTGTTCTACCCAGTTTCGTATGTTTGATTTTTAAAAAAATCTCCTGCCGTGATAATTATTAAAAATTAACATTGAAGTTGATTAAATGCAATAAATGTCACATTAAATAGTAAATTTTAAAATTATCAATAAAATATTAACTTATAGAAATAAGCTAGATTCAAATATTTTAGTTGCTAGCATGGTGTCTTATACAGTTTGGTTATGATCACTGGGGCAAGATTAAACTCTCTTTATAATAGGGAATCTGACACATGAGAAGAATTTCAAGATTTTTTTTTTCCAAACATGGCACCATTCTTG_POLB 1075 >=10 4 ACAA 0 - Microhomology-mediated 19affd7a-3254-11e6-bf41-357a7872c165 10_35035043_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 35035043 GA G 660 PASS PARD3 Del intronic 1 9 MSH6 child 10_35035043_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 19b0c0fa-3256-11e6-81f9-42f212ae24cf 17_50234376_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 50234376 G GA 780 PASS CA10 Ins intronic 1 2 MSH6 child 17_50234376_GGA_MSH6 1 1 - - - - Ins 19b35cf4-3326-11e6-95a6-476ac042253c 3_81010899_CAC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 81010899 CA C 480 PASS - Del - 1 8 CHK2 child 3_81010899_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 19b5da36-328d-11e6-bd84-429305ad5bc4 1_211648432_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 211648432 GT G 900 PASS RD3 Del downstream 1 7 MSH6 child 1_211648432_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 19bcb0aa-328c-11e6-8256-94c36f39e758 17_28568044_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 28568044 GT G 420 PASS - Del - 1 8 MSH6 child 17_28568044_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 19e6e106-329e-11e6-b696-dd6225c9da85 5_62285723_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 62285723 TA T 540 PASS - Del - 1 7 MSH6 child 5_62285723_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 19e72c54-328c-11e6-8106-81c36f39e758 19_30664714_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 30664714 CT C 360 PASS - Del - 1 9 MSH6 child 19_30664714_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 19f2ec72-3324-11e6-a066-657f12ae24cf X_65551968_CATC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA X 65551968 CAT C 300 PASS - Del - 2 5 POLE child X_65551968_CATC_POLE 2 2 2 AT 4 AT Repeat-mediated 19f70e84-3279-11e6-a391-f6d67d6a9fc7 6_110212068_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 110212068 GT G 540 PASS - Del - 1 7 MSH6 child 6_110212068_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 19f845f4-3285-11e6-a1ac-fd6da2c71c31 13_84641794_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 84641794 TA T 300 PASS - Del - 1 3 MSH6 child 13_84641794_TAT_MSH6 1 1 1 A 2 A Repeat-mediated 19fe1816-327c-11e6-a391-f6d67d6a9fc7 6_146764738_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 146764738 T TA 480 PASS - Ins - 1 9 MSH6 child 6_146764738_TTA_MSH6 1 1 - - - - Ins 19fe70f6-327a-11e6-9e0f-7959cab49462 7_150249221_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 150249221 G GA 720 PASS - Ins - 1 6 MSH6 child 7_150249221_GGA_MSH6 1 1 - - - - Ins 1a0d7a84-325b-11e6-8b28-55ad7872c165 20_34957033_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 34957033 GT G 600 PASS DLGAP4 Del intronic 1 7 MSH6 child 20_34957033_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 1a114976-3255-11e6-8ebc-3ef212ae24cf 15_75663094_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 75663094 GA G 420 PASS SIN3A Del 3prime_UTR_variant 1 7 MSH6 child 15_75663094_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 1a183164-3327-11e6-afff-8a61fc77b11e 7_114259676_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 7 114259676 TA T 480 PASS FOXP2 Del intronic 1 4 EXO1 child 7_114259676_TAT_EXO1 1 1 1 A 3 A Repeat-mediated 1a18430e-3276-11e6-bfcc-6defed3c4f5d 2_205450048_CTCTTC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 2 205450048 CTCTT C 360 PASS PARD3B Del intronic 4 3 NEIL1 child 2_205450048_CTCTTC_NEIL1 4 4 4 TCTT 2 TCTT Repeat-mediated 1a1dcdac-3293-11e6-92cf-bf2a0e01a414 6_99398985_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 99398985 G GT 420 PASS FBXL4 Ins upstream 1 7 MSH6 child 6_99398985_GGT_MSH6 1 1 - - - - Ins 1a1f9990-3291-11e6-b3a9-d5afe7d0bdd7 4_95251585_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 95251585 CT C 300 PASS HPGDS Del intronic 1 8 FANCC child 4_95251585_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 1a23e412-3275-11e6-a862-bc9becf1e924 1_182911067_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 182911067 TA T 360 PASS SHCBP1L Del intronic 1 8 MSH6 child 1_182911067_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1a3586ce-326e-11e6-9003-ae204b47a305 19_6414075_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 6414075 G GA 300 PASS KHSRP Ins 3prime_UTR_variant 1 9 MSH6 child 19_6414075_GGA_MSH6 1 1 - - - - Ins 1a380cc2-326f-11e6-bfba-13bf4a47a305 9_74232518_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 74232518 GA G 300 PASS - Del - 1 7 MSH6 child 9_74232518_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 1a398fde-3288-11e6-a5b3-3f1ebce6aa09 7_155562117_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 155562117 AG A 540 PASS RBM33 Del intronic 1 6 MSH6 child 7_155562117_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 1a466d7c-3273-11e6-b332-88ba7d6a9fc7 15_56239395_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 56239395 CA C 628 PASS NEDD4 Del intronic 1 6 MSH6 child 15_56239395_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 1a4b2d20-3274-11e6-9210-65fa620e6611 5_164265915_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 164265915 CT C 540 PASS - Del - 1 9 EXO1 parent 5_164265915_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 1a52775e-3271-11e6-88fb-e99ffa52e078 11_46250995_ATGTA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 11 46250995 ATGT A 345 PASS - Del - 3 2 CHK2 child 11_46250995_ATGTA_CHK2 3 3 3 TGT 1 TGT Repeat-mediated 1a5aa420-3284-11e6-845d-6b29bce6aa09 X_137963528_CCA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA X 137963528 C CA 300 PASS FGF13 Ins intronic 1 7 POLM child X_137963528_CCA_POLM 1 1 - - - - Ins 1a5f0dec-326d-11e6-adc2-b7204b47a305 18_43210602_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 43210602 CA C 360 PASS SLC14A2 Del intronic 1 7 MSH6 child 18_43210602_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 1a606218-3322-11e6-ada4-b8297e6a9fc7 13_47825986_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 13 47825986 AT A 600 PASS - Del - 1 7 EXO1 child 13_47825986_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 1a6a8c4e-328b-11e6-a380-15ec54de4fc4 1_205315289_GTGTCG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 1 205315289 GTGTC G 420 PASS KLHDC8A Del intronic 4 1 CHK2 child 1_205315289_GTGTCG_CHK2 4 4 3 TGT 0 - Microhomology-mediated 1a6b7cb0-3274-11e6-8165-0dc17872c165 9_123149952_AAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 9 123149952 A AT 360 PASS CDK5RAP2 Ins downstream 1 2 NEIL1 child 9_123149952_AAT_NEIL1 1 1 - - - - Ins 1a6d52ba-3283-11e6-aa13-78428e4678dd 5_38645412_GTG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 38645412 GT G 600 PASS - Del - 1 4 EXO1 child 5_38645412_GTG_EXO1 1 1 1 T 3 T Repeat-mediated 1a8725fe-3270-11e6-aa96-e6b97872c165 15_72765146_AAACA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 15 72765146 AAAC A 420 PASS ARIH1 Del upstream 3 6 NEIL1 child 15_72765146_AAACA_NEIL1 3 3 3 AAC 5 AAC Repeat-mediated 1a8780b4-328c-11e6-88c1-95c36f39e758 14_54919096_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 54919096 CA C 540 PASS - Del - 1 9 MSH6 child 14_54919096_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 1a89a28a-3283-11e6-9ece-78393dc9300a 11_134668213_CTC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 11 134668213 CT C 720 PASS - Del - 1 9 NEIL1 parent 11_134668213_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated 1a8e656e-328c-11e6-8256-94c36f39e758 17_28772482_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 28772482 TA T 600 PASS CPD Del intronic 1 8 MSH6 child 17_28772482_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1a8f6660-329d-11e6-aca6-b39fcc638e3d 2_214629242_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 214629242 AT A 540 PASS SPAG16 Del intronic 1 8 MSH6 child 2_214629242_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1a8f6f7e-328a-11e6-8909-3ebb38e8a824 9_120746341_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 9 120746341 CT C 720 PASS - Del - 1 8 NUDT1 parent 9_120746341_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 1a9eed20-3292-11e6-9401-04ed6f39e758 3_149404412_TACT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 149404412 TAC T 780 PASS WWTR1 Del intronic 2 6 MSH6 child 3_149404412_TACT_MSH6 2 2 2 AC 5 AC Repeat-mediated 1aa300e0-326f-11e6-bfba-13bf4a47a305 9_74343929_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 74343929 AG A 300 PASS TMEM2 Del intronic 1 5 MSH6 child 9_74343929_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 1aa8dbca-3281-11e6-9e64-c48569062303 13_25920401_CTC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 13 25920401 CT C 480 PASS NUPL1 Del downstream 1 8 POLE parent 13_25920401_CTC_POLE 1 1 1 T 7 T Repeat-mediated 1aaf6762-3270-11e6-b923-6726694da5d2 5_46338769_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 46338769 GT G 300 PASS - Del - 1 5 MSH6 child 5_46338769_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 1ac3bffa-329d-11e6-ae71-0c5325c9da85 1_189972382_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 189972382 CT C 540 PASS - Del - 1 9 MSH6 child 1_189972382_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 1ac7bf10-3289-11e6-b9eb-c78fa2c71c31 6_124927427_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 124927427 CT C 480 PASS NKAIN2 Del intronic 1 8 MSH6 child 6_124927427_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1ac8d416-3290-11e6-9401-04ed6f39e758 3_8940736_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 8940736 GA G 540 PASS RAD18 Del splice_region 1 6 MSH6 child 3_8940736_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 1acf6528-3273-11e6-826a-adb6fa52e078 17_41017565_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 41017565 CA C 720 PASS - Del - 1 8 MSH6 child 17_41017565_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 1ad14540-3256-11e6-ad95-79832aaffa45 15_97765506_GTG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 15 97765506 GT G 365 PASS - Del - 1 1 POLM child 15_97765506_GTG_POLM 1 1 0 - 0 T None 1ad538c4-3325-11e6-841a-c49690e2c2e6 6_26580944_AAGA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 6 26580944 AAG A 300 PASS - Del - 2 3 POLE child 6_26580944_AAGA_POLE 2 2 2 AG 2 AG Repeat-mediated 1ada10c4-3271-11e6-b5d9-38f41da8ec0e 15_34420368_TGTAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 15 34420368 TGTA T 660 PASS - Del - 3 2 FANCC child 15_34420368_TGTAT_FANCC 3 3 3 GTA 1 GTA Repeat-mediated 1adae3f0-329e-11e6-b549-1e5325c9da85 10_124895626_GGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 124895626 G GC 540 PASS HMX3 Ins frameshift 1 7 MSH6 child 10_124895626_GGC_MSH6 1 1 - - - - Ins 1adbe954-329d-11e6-bc2c-2a5e25c9da85 4_12806880_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 12806880 AT A 720 PASS - Del - 1 7 MSH6 child 4_12806880_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1aee5802-325a-11e6-8340-da9012ae24cf 6_111153056_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 111153056 AT A 360 PASS - Del - 1 9 MSH6 child 6_111153056_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1af1cbe8-328e-11e6-ab9a-705238e8a824 18_41893830_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 18 41893830 CT C 420 PASS - Del - 1 4 FANCC child 18_41893830_CTC_FANCC 1 1 1 T 3 T Repeat-mediated 1af9c54c-3292-11e6-92cf-bf2a0e01a414 6_26149859_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 26149859 C CT 360 PASS - Ins - 1 7 MSH6 child 6_26149859_CCT_MSH6 1 1 - - - - Ins 1afc1f32-3291-11e6-9432-c0e56f39e758 5_178331015_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 178331015 AG A 300 PASS ZFP2 Del intronic 1 1 MSH6 child 5_178331015_AGA_MSH6 1 1 0 - 0 G None 1b03cdb6-328e-11e6-ace9-29a5e7d0bdd7 16_34743483_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 16 34743483 TA T 780 PASS RP11-80F22.15 Del upstream 1 9 FANCC child 16_34743483_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 1b16e27c-3273-11e6-abaf-4642cab49462 6_106459693_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 106459693 AC A 300 PASS - Del - 1 5 MSH6 child 6_106459693_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 1b1a9a92-3292-11e6-9401-04ed6f39e758 3_149573423_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 149573423 AT A 540 PASS RNF13 Del intronic 1 8 MSH6 child 3_149573423_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1b1e5b04-3289-11e6-8580-eccd191589db 16_10230153_TGAAGGCT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 16 10230153 TGAAGGC T 420 PASS GRIN2A Del intronic 6 1 FANCC child 16_10230153_TGAAGGCT_FANCC 6 6 3 GAA 0 - Microhomology-mediated 1b21cd78-329f-11e6-ae71-0c5325c9da85 1_38328109_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 38328109 G GA 360 PASS INPP5B Ins splice_region 1 5 MSH6 child 1_38328109_GGA_MSH6 1 1 - - - - Ins 1b225f5a-328a-11e6-8353-a446fd44d094 1_114518139_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 114518139 AT A 420 PASS HIPK1 Del 3prime_UTR_variant 1 9 FANCC child 1_114518139_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 1b2f50a6-3272-11e6-8418-1c5942c4520d 3_197722613_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 197722613 CA C 480 PASS LMLN Del intronic 1 7 MSH6 child 3_197722613_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 1b3a44c8-3292-11e6-b01f-c8b64430f757 6_155997178_ATGA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 6 155997178 ATG A 780 PASS - Del - 2 1 POLE child 6_155997178_ATGA_POLE 2 2 1 T 0 - Microhomology-mediated 1b3cda22-3282-11e6-989b-28bd9b6d3b88 12_128345389_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 12 128345389 AT A 660 PASS - Del - 1 1 EXO1 child 12_128345389_ATA_EXO1 1 1 0 - 0 T None 1b3e0376-3272-11e6-8418-1c5942c4520d 3_197734156_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 197734156 GT G 420 PASS LMLN Del intronic 1 7 MSH6 child 3_197734156_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 1b4545de-3275-11e6-b6cd-6bb47098ee92 21_31161305_ACATGGCCCATTA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 21 31161305 ACATGGCCCATT A 480 PASS GRIK1 Del intronic 11 1 FANCC child 21_31161305_ACATGGCCCATTA_FANCC 11 >=10 0 - 0 - None 1b4ba16a-329b-11e6-b129-195325c9da85 16_56450232_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 56450232 GA G 420 PASS AMFR Del intronic 1 8 MSH6 child 16_56450232_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1b532ee4-3273-11e6-a862-bc9becf1e924 1_42841840_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 42841840 TC T 660 PASS RIMKLA Del upstream 1 1 MSH6 child 1_42841840_TCT_MSH6 1 1 0 - 0 C None 1b53d1aa-329b-11e6-9048-b49fcc638e3d 17_54563686_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 54563686 CT C 480 PASS ANKFN1 Del downstream 1 7 MSH6 child 17_54563686_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1b59eea8-3275-11e6-ab69-1c1607e9a829 9_33147261_TTCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 33147261 TTC T 420 PASS B4GALT1 Del intronic 2 1 MSH6 child 9_33147261_TTCT_MSH6 2 2 0 - 0 - None 1b5fd892-328c-11e6-ba7b-64cc977b3f23 18_53605047_ATTTATTCTA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 18 53605047 ATTTATTCT A 480 PASS CTD-2008L17.1 Del intronic 8 1 NEIL1 child 18_53605047_ATTTATTCTA_NEIL1 8 8 6 TTTATT 0 - Microhomology-mediated 1b6172d4-3286-11e6-931c-baa482d12d16 3_78160397_TTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 3 78160397 T TA 360 PASS - Ins - 1 9 FANCC child 3_78160397_TTA_FANCC 1 1 - - - - Ins 1b67e558-3270-11e6-9dd9-e411987b3f23 2_109606279_GGAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 2 109606279 GGA G 280 PASS EDAR Del upstream 2 1 NEIL1 child 2_109606279_GGAG_NEIL1 2 2 0 - 0 - None 1b719b24-328a-11e6-821d-8c090e01a414 13_69750161_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 69750161 GA G 420 PASS - Del - 1 8 MSH6 child 13_69750161_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1b745d46-3258-11e6-885f-d1947872c165 4_139375733_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 139375733 CA C 480 PASS - Del - 1 6 MSH6 child 4_139375733_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 1b80ad24-3291-11e6-9413-6a7219a91649 5_28856097_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 28856097 AT A 300 PASS - Del - 1 9 NEIL1 child 5_28856097_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 1b818f5c-329e-11e6-a0ea-135325c9da85 15_72814894_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 72814894 T TA 420 PASS ARIH1 Ins intronic 1 7 MSH6 child 15_72814894_TTA_MSH6 1 1 - - - - Ins 1b82ec58-328f-11e6-9432-c0e56f39e758 5_35299001_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 35299001 CT C 300 PASS - Del - 1 9 MSH6 child 5_35299001_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 1b980898-326e-11e6-b306-b5204b47a305 2_133169914_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 133169914 TA T 300 PASS GPR39 Del upstream 1 9 MSH6 child 2_133169914_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1ba04b8e-32a0-11e6-ae71-0c5325c9da85 1_101808391_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 101808391 C CA 840 PASS RP11-157N3.1 Ins intronic 1 1 MSH6 child 1_101808391_CCA_MSH6 1 1 - - - - Ins 1ba2a018-328d-11e6-bd84-429305ad5bc4 1_212388121_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 212388121 GA G 300 PASS - Del - 1 8 MSH6 child 1_212388121_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1bac891a-3275-11e6-ac11-cc1ed9b4fa2c 14_45867608_GAG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 14 45867608 GA G 600 PASS - Del - 1 7 POLM child 14_45867608_GAG_POLM 1 1 1 A 6 A Repeat-mediated 1bacb27c-3271-11e6-8fc7-e8702aaffa45 9_83570310_GAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 9 83570310 GA G 360 PASS - Del - 1 8 POLM child 9_83570310_GAG_POLM 1 1 1 A 7 A Repeat-mediated 1bad55f0-3290-11e6-b805-77090e01a414 2_199301524_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 199301524 G GT 360 PASS - Ins - 1 5 MSH6 child 2_199301524_GGT_MSH6 1 1 - - - - Ins 1bae6ecc-3286-11e6-8b67-086ea2c71c31 1_152107913_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 152107913 GT G 720 PASS - Del - 1 9 MSH6 child 1_152107913_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 1bb1160e-329f-11e6-aca6-b39fcc638e3d 2_89070905_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 89070905 T TA 600 PASS - Ins - 1 6 MSH6 child 2_89070905_TTA_MSH6 1 1 - - - - Ins 1bb89cb4-3289-11e6-a8ac-a28ea2c71c31 3_146722931_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 146722931 GT G 600 PASS - Del - 1 8 MSH6 child 3_146722931_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 1bc25996-3272-11e6-9065-cc4890e2c2e6 1_68103523_CATC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 68103523 CAT C 480 PASS - Del - 2 1 MSH6 parent 1_68103523_CATC_MSH6 2 2 1 A 0 - Microhomology-mediated 1bc26ee2-328e-11e6-bfa2-581f0e01a414 7_84557686_TACT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 84557686 TAC T 300 PASS - Del - 2 3 MSH6 child 7_84557686_TACT_MSH6 2 2 2 AC 2 AC Repeat-mediated 1bc566ba-3275-11e6-a93d-2de179852e0e 22_33710706_AGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 22 33710706 AG A 300 PASS LARGE Del intronic 1 6 FANCC child 22_33710706_AGA_FANCC 1 1 1 G 5 G Repeat-mediated 1bcbc224-329a-11e6-b549-1e5325c9da85 10_14618441_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 14618441 AT A 720 PASS FAM107B Del intronic 1 3 MSH6 child 10_14618441_ATA_MSH6 1 1 1 T 2 T Repeat-mediated 1bd0d89c-3275-11e6-b439-e34b3cfdbd24 2_37099026_GGA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 37099026 G GA 600 PASS STRN Ins intronic 1 7 MSH6 parent 2_37099026_GGA_MSH6 1 1 - - - - Ins 1bd15dbe-328c-11e6-aa75-90c36f39e758 13_53771618_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 53771618 AT A 720 PASS - Del - 1 9 MSH6 child 13_53771618_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1bd1cafc-329a-11e6-b549-1e5325c9da85 10_14620502_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 14620502 GA G 600 PASS FAM107B Del intronic 1 8 MSH6 child 10_14620502_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1bd8698e-3277-11e6-aad4-1aca35cec73b X_97025440_TTTGCTGC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA X 97025440 T TTGCTGC 420 PASS - Ins - 6 0 CHK2 child X_97025440_TTTGCTGC_CHK2 6 6 - - - - Ins 1bd8c662-328c-11e6-ac7a-a3c36f39e758 18_40080805_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 40080805 GA G 840 PASS LINC00907 Del intronic 1 9 MSH6 child 18_40080805_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1be4dff0-326f-11e6-b5b8-e0c24a47a305 X_6754191_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 6754191 GT G 480 PASS - Del - 1 6 MSH6 child X_6754191_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 1beeec58-3322-11e6-8ccd-5c056323ba5a 2_32233012_GACTCG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 32233012 GACTC G 840 PASS MEMO1 Del intronic 4 1 EXO1 child 2_32233012_GACTCG_EXO1 4 4 0 - 0 - None 1bf6d3d4-328f-11e6-8e48-791e0e01a414 8_100270536_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 100270536 CT C 300 PASS VPS13B Del intronic 1 8 MSH6 child 8_100270536_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1bfda1be-3276-11e6-9e0f-7959cab49462 7_45473391_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 45473391 CT C 540 PASS - Del - 1 9 MSH6 child 7_45473391_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 1c03cb54-326f-11e6-9f48-94df41c4520d 12_58389497_CCAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 58389497 C CAT 420 PASS - Ins - 2 4 MSH6 child 12_58389497_CCAT_MSH6 2 2 - - - - Ins 1c057466-3294-11e6-89b3-f12a3dc9300a 15_95490675_CAC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 15 95490675 CA C 480 PASS - Del - 1 6 POLB child 15_95490675_CAC_POLB 1 1 1 A 5 A Repeat-mediated 1c07c3a8-328d-11e6-b537-8a5c694da5d2 13_68940652_CTGC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 13 68940652 CTG C 300 PASS - Del - 2 1 POLM child 13_68940652_CTGC_POLM 2 2 1 T 0 - Microhomology-mediated 1c0ce128-3272-11e6-991b-161a987b3f23 X_57185873_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA X 57185873 AT A 407 PASS - Del - 1 4 NEIL1 child X_57185873_ATA_NEIL1 1 1 1 T 3 T Repeat-mediated 1c11719c-3278-11e6-a47c-77abeab8d062 5_137155570_AGA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 137155570 AG A 300 PASS - Del - 1 1 EXO1 child 5_137155570_AGA_EXO1 1 1 0 - 0 G None 1c17cd32-329e-11e6-ae71-0c5325c9da85 1_246480616_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 246480616 CT C 540 PASS SMYD3 Del intronic 1 6 MSH6 child 1_246480616_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 1c1f7c96-328d-11e6-8e48-791e0e01a414 8_39661072_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 39661072 TA T 300 PASS ADAM2 Del intronic 1 6 MSH6 child 8_39661072_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 1c22518e-329a-11e6-b549-1e5325c9da85 10_14678820_GCTCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 14678820 GCTC G 900 PASS FAM107B Del intronic 3 1 MSH6 child 10_14678820_GCTCG_MSH6 3 3 2 CT 0 - Microhomology-mediated 1c338da4-328c-11e6-bd84-429305ad5bc4 1_72196705_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 72196705 CT C 660 PASS NEGR1 Del intronic 1 7 MSH6 child 1_72196705_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1c353dde-328c-11e6-9c89-8d090e01a414 1_167368610_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 167368610 TA T 300 PASS POU2F1 Del splice_region 1 6 MSH6 child 1_167368610_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 1c368122-329a-11e6-8069-175325c9da85 12_14064138_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 14064138 GA G 720 PASS GRIN2B Del intronic 1 9 MSH6 child 12_14064138_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1c387c3c-326f-11e6-a576-d8f3eab8d062 17_10508830_CAGGC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 17 10508830 CAGG C 300 PASS - Del - 3 2 NUDT1 child 17_10508830_CAGGC_NUDT1 3 3 3 AGG 1 AGG Repeat-mediated 1c417be4-3273-11e6-a5d0-4fd14a47a305 2_61851219_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 61851219 TA T 720 PASS - Del - 1 8 MSH6 child 2_61851219_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1c474840-3277-11e6-92d2-c259c225ee11 3_55403460_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 55403460 AT A 420 PASS - Del - 1 9 MSH6 child 3_55403460_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1c4b058c-328d-11e6-8e48-791e0e01a414 8_39781956_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 39781956 GT G 540 PASS IDO1 Del intronic 1 9 MSH6 child 8_39781956_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 1c4d84ae-328a-11e6-94b1-74090e01a414 17_41993565_GCG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 41993565 GC G 540 PASS FAM215A Del upstream 1 6 MSH6 child 17_41993565_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 1c52d00a-3274-11e6-85f4-61dd6de4ab00 13_46570328_AATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 13 46570328 AAT A 900 PASS ZC3H13 Del intronic 2 2 NEIL1 child 13_46570328_AATA_NEIL1 2 2 2 AT 1 AT Repeat-mediated 1c591ab8-328e-11e6-b9c4-751d0e01a414 5_125271138_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 125271138 GA G 480 PASS - Del - 1 7 MSH6 child 5_125271138_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 1c648302-3285-11e6-95c7-6dfa4430f757 11_98044783_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 11 98044783 AT A 780 PASS - Del - 1 1 EXO1 child 11_98044783_ATA_EXO1 1 1 0 - 0 T None 1c677af4-328e-11e6-8f31-bfe16f39e758 9_14457319_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 14457319 TA T 468 PASS - Del - 1 7 MSH6 child 9_14457319_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 1c692902-3285-11e6-8dac-d9fc137bb207 5_84297289_TAT . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 5 84297289 TA T 600 PASS - Del - 1 9 FANCC child 5_84297289_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 1c6e04d0-329a-11e6-ae71-0c5325c9da85 1_15868805_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 15868805 CA C 540 PASS DNAJC16 Del intronic 1 8 MSH6 child 1_15868805_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 1c708c08-3328-11e6-9673-d7281daa6045 X_7476835_GTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA X 7476835 GT G 540 PASS - Del - 1 9 EXO1 child X_7476835_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 1c71513c-32a2-11e6-aea7-956725c9da85 3_36072870_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 36072870 A AT 480 PASS - Ins - 1 8 MSH6 child 3_36072870_AAT_MSH6 1 1 - - - - Ins 1c7b3b2e-327b-11e6-b554-cb0a0e01a414 16_32946371_TTA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 16 32946371 T TA 442 PASS - Ins - 1 1 FANCC parent 16_32946371_TTA_FANCC 1 1 - - - - Ins 1c80d548-3325-11e6-9271-15989d7ad846 5_124702714_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 5 124702714 AT A 540 PASS RP11-395P13.3 Del downstream 1 9 CHK2 child 5_124702714_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 1c826592-326d-11e6-9f48-94df41c4520d 12_43158606_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 43158606 AT A 540 PASS - Del - 1 8 MSH6 child 12_43158606_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1c827c2c-3285-11e6-97d5-6cf1bbe6aa09 17_55954833_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 55954833 GA G 660 PASS CUEDC1 Del intronic 1 9 MSH6 child 17_55954833_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1c86cc12-3287-11e6-bc08-5710147bb207 3_163236453_ATA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 3 163236453 AT A 360 PASS - Del - 1 7 FANCC child 3_163236453_ATA_FANCC 1 1 1 T 6 T Repeat-mediated 1c896158-3290-11e6-9d97-efe56f39e758 4_100549101_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 100549101 GT G 540 PASS MTTP Del downstream 1 9 MSH6 child 4_100549101_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 1c8f0574-3275-11e6-bfcc-6defed3c4f5d 2_115840814_CTC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 2 115840814 CT C 540 PASS DPP10 Del intronic 1 8 NEIL1 child 2_115840814_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated 1c97fac4-3281-11e6-8857-3d859cdf095d 18_35517240_ATTCCTTGA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 18 35517240 ATTCCTTG A 480 PASS - Del - 7 1 POLE child 18_35517240_ATTCCTTGA_POLE 7 7 0 - 0 - None 1c9949a6-3272-11e6-b630-aeceb41afd22 17_71711449_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 17 71711449 AT A 600 PASS - Del - 1 7 FANCC child 17_71711449_ATA_FANCC 1 1 1 T 6 T Repeat-mediated 1ca9d4f0-3273-11e6-aa3b-ca60a178171f 13_66882659_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 66882659 AT A 720 PASS PCDH9 Del intronic 1 7 MSH6 child 13_66882659_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1cab634e-328f-11e6-92cf-bf2a0e01a414 6_23521934_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 23521934 CA C 780 PASS - Del - 1 9 MSH6 child 6_23521934_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 1cb6c504-327b-11e6-92d2-c259c225ee11 3_147621640_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 147621640 G GA 360 PASS - Ins - 1 8 MSH6 child 3_147621640_GGA_MSH6 1 1 - - - - Ins 1cbcc178-3273-11e6-a42e-2f51e7d0bdd7 1_17691309_TAT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 1 17691309 TA T 360 PASS PADI4 Del downstream 1 9 POLB child 1_17691309_TAT_POLB 1 1 1 A 8 A Repeat-mediated 1cc5db98-3271-11e6-b62b-e162a78019ab 8_114377551_CATC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 8 114377551 CAT C 720 PASS CSMD3 Del intronic 2 1 POLM parent 8_114377551_CATC_POLM 2 2 1 A 0 - Microhomology-mediated 1cd37a7c-3286-11e6-b19c-6afa4430f757 1_182174141_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 1 182174141 CA C 420 PASS GS1-122H1.2 Del intronic 1 4 EXO1 child 1_182174141_CAC_EXO1 1 1 1 A 3 A Repeat-mediated 1cd86e28-3291-11e6-9d97-efe56f39e758 4_167635506_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 167635506 GT G 480 PASS - Del - 1 6 MSH6 child 4_167635506_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 1cdbb874-3324-11e6-85fa-8f2b51c54cdd 7_54995835_TAGT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 7 54995835 TAG T 300 PASS - Del - 2 5 CHK2 parent 7_54995835_TAGT_CHK2 2 2 2 AG 4 AG Repeat-mediated 1cdcaf4a-3324-11e6-a56f-7e1a2eaed38e 21_16778590_TGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 21 16778590 TG T 600 PASS AJ006998.2 Del upstream 1 2 EXO1 child 21_16778590_TGT_EXO1 1 1 1 G 1 G Repeat-mediated 1cdd07bc-3273-11e6-b332-88ba7d6a9fc7 15_56857123_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 56857123 CA C 594 PASS - Del - 1 8 MSH6 child 15_56857123_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 1ce3f2e4-3290-11e6-ba05-bfb14430f757 X_130604960_CTC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA X 130604960 CT C 460 PASS - Del - 1 9 POLE child X_130604960_CTC_POLE 1 1 1 T 8 T Repeat-mediated 1ce5e938-3325-11e6-9271-15989d7ad846 5_124806233_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 5 124806233 AT A 480 PASS - Del - 1 7 CHK2 child 5_124806233_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 1cea24c4-329b-11e6-bda6-065325c9da85 13_99959160_CCTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 99959160 CCT C 360 PASS UBAC2 Del intronic 2 1 MSH6 child 13_99959160_CCTC_MSH6 2 2 0 - 0 - None 1ced0d68-3293-11e6-9432-c0e56f39e758 5_159443404_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 159443404 T TA 360 PASS TTC1 Ins intronic 1 5 MSH6 child 5_159443404_TTA_MSH6 1 1 - - - - Ins 1cf0f49e-3290-11e6-9d24-ade56f39e758 7_100742202_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 100742202 CT C 300 PASS - Del - 1 7 MSH6 child 7_100742202_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1cfe70a2-328f-11e6-b6a6-1f1e0e01a414 4_165407347_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 165407347 GA G 300 PASS - Del - 1 5 MSH6 child 4_165407347_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 1d046520-3276-11e6-b48f-cc371daa6045 9_38148366_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 9 38148366 CT C 900 PASS - Del - 1 7 EXO1 child 9_38148366_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 1d0bf164-3276-11e6-8eca-83e079852e0e 11_96221651_CCTGAAAGTGACATTTGAT . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 11 96221651 CCTGAAAGTGA CATTTGAT 300 PASS JRKL-AS1 Complex intronic 10 0 POLM child 11_96221651_CCTGAAAGTGACATTTGAT_POLM 3 3 - - - - Complex 1d1098f4-328a-11e6-a380-15ec54de4fc4 1_93356852_GTG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 1 93356852 GT G 300 PASS FAM69A Del intronic 1 9 CHK2 child 1_93356852_GTG_CHK2 1 1 1 T 8 T Repeat-mediated 1d113d26-326d-11e6-9d68-ac9acab49462 15_46153218_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 46153218 GT G 300 PASS RP11-718O11.1 Del intronic 1 7 MSH6 child 15_46153218_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 1d15232e-328f-11e6-9d24-ade56f39e758 7_35796442_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 35796442 CA C 540 PASS AC007551.3 Del intronic 1 5 MSH6 child 7_35796442_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 1d18a260-3271-11e6-8418-1c5942c4520d 3_111620360_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 111620360 TA T 420 PASS PHLDB2 Del intronic 1 8 MSH6 child 3_111620360_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1d19e45e-328f-11e6-8e48-791e0e01a414 8_100899976_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 100899976 AG A 660 PASS COX6C Del intronic 1 4 MSH6 child 8_100899976_AGA_MSH6 1 1 1 G 3 G Repeat-mediated 1d1ff7ae-328f-11e6-8e48-791e0e01a414 8_100917667_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 100917667 AT A 300 PASS - Del - 1 8 MSH6 child 8_100917667_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1d28e742-3276-11e6-88aa-2d54a966024e 7_148967341_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 148967341 AT A 336 PASS ZNF783 Del intronic 1 8 MSH6 parent 7_148967341_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 1d2d6038-3285-11e6-a8af-066ea2c71c31 15_64131547_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 64131547 CA C 360 PASS - Del - 1 8 MSH6 child 15_64131547_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 1d34cfa2-3277-11e6-8440-785ac225ee11 20_38800372_TGGCTTAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 20 38800372 TGGCTTA T 900 PASS - Del - 6 1 NUDT1 child 20_38800372_TGGCTTAT_NUDT1 6 6 2 GG 0 - Microhomology-mediated 1d3bb0f6-3272-11e6-90e8-e7f6620e6611 19_54419484_GTG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 19 54419484 GT G 600 PASS CACNG7 Del intronic 1 9 FANCC child 19_54419484_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 1d3ee7d2-3347-11e6-94cb-be633cfdbd24 16_58605568_GAAGGGAGAAAAAGACAGTTAAAATAATAGGAGGCCGGGCATAGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACTTGAGGTCAGGAGTTTGAGAGCAAAA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 16 58605568 GAAGGGAGAAAAAGACAGTTAAAATAATAGGAGGCCGGGCATAGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACTTGAGGTCAGGAGTTTGAGA GCAAAA 420 PASS CNOT1 Complex intronic 115 0 FANCC child 16_58605568_GAAGGGAGAAAAAGACAGTTAAAATAATAGGAGGCCGGGCATAGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACTTGAGGTCAGGAGTTTGAGAGCAAAA_FANCC 110 >=10 - - - - Complex 1d3ef020-328d-11e6-b548-9fc2cf376b51 6_90059852_CAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 6 90059852 CA C 1200 PASS UBE2J1 Del intronic 1 9 NUDT1 child 6_90059852_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated 1d416420-328f-11e6-bfa2-581f0e01a414 7_144241083_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 144241083 CT C 360 PASS TPK1 Del intronic 1 9 MSH6 child 7_144241083_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 1d44145c-3291-11e6-9d97-efe56f39e758 4_167923859_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 167923859 TA T 720 PASS SPOCK3 Del intronic 1 8 MSH6 child 4_167923859_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1d5fafb0-3254-11e6-81f9-42f212ae24cf 17_28124949_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 28124949 GT G 360 PASS SSH2 Del intronic 1 9 MSH6 child 17_28124949_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 1d6ce2be-3274-11e6-8655-1dc619a91649 19_42067655_AGA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 19 42067655 AG A 540 PASS - Del - 1 1 EXO1 child 19_42067655_AGA_EXO1 1 1 0 - 0 G None 1d6ed4cc-3272-11e6-b306-b5204b47a305 2_223245200_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 223245200 C CA 300 PASS - Ins - 1 9 MSH6 child 2_223245200_CCA_MSH6 1 1 - - - - Ins 1d72d990-3273-11e6-9210-65fa620e6611 5_86731893_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 86731893 CT C 720 PASS - Del - 1 7 EXO1 parent 5_86731893_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 1d72e4ac-3279-11e6-a391-f6d67d6a9fc7 6_111306052_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 111306052 CA C 660 PASS RPF2 Del intronic 1 9 MSH6 child 6_111306052_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 1d7c4a3a-3272-11e6-abaf-4642cab49462 6_35070161_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 35070161 GA G 300 PASS - Del - 1 9 MSH6 child 6_35070161_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1d87cd82-3278-11e6-a76d-26961565c797 1_174931342_CCCA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 174931342 C CCA 420 PASS RABGAP1L Ins intronic 2 6 EXO1 child 1_174931342_CCCA_EXO1 2 2 - - - - Ins 1d902c9a-328f-11e6-9d41-3ba5e7d0bdd7 11_123535663_TTTATGAGGATTAAATAAGT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 11 123535663 TTTATGAGGATTAAATAAG T 360 PASS RP11-634B22.4 Del upstream 18 1 FANCC child 11_123535663_TTTATGAGGATTAAATAAGT_FANCC 18 >=10 3 TTA 0 - Microhomology-mediated 1d90ed2c-3282-11e6-a5e9-0107694da5d2 7_137701914_TGT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 137701914 TG T 300 PASS - Del - 1 4 NEIL1 child 7_137701914_TGT_NEIL1 1 1 1 G 3 G Repeat-mediated 1d9650ca-3294-11e6-ae2c-d2ab9b6d3b88 3_16932785_ACCTA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 3 16932785 ACCT A 720 PASS PLCL2 Del intronic 3 2 NUDT1 child 3_16932785_ACCTA_NUDT1 3 3 3 CCT 1 CCT Repeat-mediated 1d9b1608-3278-11e6-9019-27a01da8ec0e 6_148171977_GATCAGCTGTGGCAGTG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 6 148171977 GATCAGCTGTGGCAGT G 300 PASS RP11-307P5.1 Del intronic 15 1 FANCC child 6_148171977_GATCAGCTGTGGCAGTG_FANCC 15 >=10 3 ATC 0 - Microhomology-mediated 1da201c8-328e-11e6-8f31-bfe16f39e758 9_14830636_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 14830636 CT C 720 PASS FREM1 Del intronic 1 1 MSH6 child 9_14830636_CTC_MSH6 1 1 0 - 0 T None 1da6b6a8-3254-11e6-b4d0-327a7872c165 11_38939358_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 38939358 CT C 480 PASS - Del - 1 8 MSH6 child 11_38939358_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1db196e0-3290-11e6-9432-c0e56f39e758 5_107532585_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 107532585 CT C 660 PASS FBXL17 Del intronic 1 8 MSH6 child 5_107532585_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1db7aa2a-32a0-11e6-94ca-0aaecc638e3d X_6889112_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 6889112 C CA 360 PASS - Ins - 1 8 MSH6 child X_6889112_CCA_MSH6 1 1 - - - - Ins 1dbf9fe0-3283-11e6-b2ac-df03987b3f23 12_109800965_CAC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 12 109800965 CA C 720 PASS MYO1H Del intronic 1 8 NEIL1 parent 12_109800965_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated 1dcee362-329a-11e6-aca6-b39fcc638e3d 2_25250751_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 25250751 CA C 480 PASS - Del - 1 9 MSH6 child 2_25250751_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 1dd54f8a-329b-11e6-a5cf-205325c9da85 11_77326713_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 77326713 GT G 420 PASS CLNS1A Del 3prime_UTR_variant 1 8 MSH6 child 11_77326713_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 1dd7ce38-328f-11e6-9d24-ade56f39e758 7_36040781_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 36040781 TC T 600 PASS - Del - 1 6 MSH6 child 7_36040781_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 1de46d52-328d-11e6-919e-92c36f39e758 2_108140920_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 108140920 TA T 360 PASS AC096669.2 Del intronic 1 9 MSH6 child 2_108140920_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1de7eb7c-3273-11e6-94cc-1ec335cec73b 19_30715247_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 30715247 AC A 360 PASS ZNF536 Del upstream 1 5 MSH6 child 19_30715247_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 1dec2db8-3322-11e6-98d8-e3f9cf737e61 17_79045777_TCT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 17 79045777 TC T 480 PASS BAIAP2 Del intronic 1 7 EXO1 child 17_79045777_TCT_EXO1 1 1 1 C 6 C Repeat-mediated 1dec5936-326f-11e6-819e-9d1aa20b69d5 11_16617227_CAGGC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 16617227 CAGG C 360 PASS - Del - 3 1 EXO1 parent 11_16617227_CAGGC_EXO1 3 3 2 AG 0 - Microhomology-mediated 1df254fe-328c-11e6-ae53-96c36f39e758 15_49437304_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 49437304 GA G 720 PASS COPS2 Del intronic 1 7 MSH6 child 15_49437304_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 1dff4d20-32a1-11e6-b696-dd6225c9da85 5_78811949_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 78811949 C CT 480 PASS HOMER1 Ins upstream 1 7 MSH6 child 5_78811949_CCT_MSH6 1 1 - - - - Ins 1e06fcf6-3322-11e6-bda0-2f6519a91649 12_129751933_TAACAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 12 129751933 TAACA T 420 PASS TMEM132D Del intronic 4 3 CHK2 child 12_129751933_TAACAT_CHK2 4 4 4 AACA 2 AACA Repeat-mediated 1e248522-3274-11e6-826a-adb6fa52e078 17_19778621_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 19778621 A AT 480 PASS - Ins - 1 9 MSH6 child 17_19778621_AAT_MSH6 1 1 - - - - Ins 1e28fd66-3326-11e6-aa06-7ca120e7b7a8 7_33841366_GCGGGAA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 7 33841366 GCGG GAA 420 PASS RP11-89N17.4 Complex intronic 3 0 CHK2 child 7_33841366_GCGGGAA_CHK2 1 1 - - - - Complex 1e3a74f4-32a1-11e6-aea7-956725c9da85 3_177831903_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 177831903 GA G 960 PASS - Del - 1 9 MSH6 child 3_177831903_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1e3c7afa-3275-11e6-a501-63cd7872c165 6_98740426_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 6 98740426 CT C 600 PASS RP11-436D23.1 Del intronic 1 8 NEIL1 child 6_98740426_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated 1e42962e-3289-11e6-8feb-e6ab6f39e758 3_124268134_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 3 124268134 CT C 360 PASS KALRN Del intronic 1 8 EXO1 child 3_124268134_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 1e43822e-328d-11e6-938d-bbbd38e8a824 5_85143931_TTA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 5 85143931 T TA 360 PASS CTD-2036A18.2 Ins upstream 1 5 NUDT1 parent 5_85143931_TTA_NUDT1 1 1 - - - - Ins 1e4f666a-3289-11e6-989a-645b51c54cdd 5_155984679_CAGAGAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 5 155984679 CAGAGA C 600 PASS SGCD Del intronic 5 1 EXO1 child 5_155984679_CAGAGAC_EXO1 5 5 0 - 0 - None 1e4ffd84-3282-11e6-989b-28bd9b6d3b88 12_129372827_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 12 129372827 CT C 720 PASS GLT1D1 Del intronic 1 7 EXO1 child 12_129372827_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 1e5397b0-3259-11e6-9d15-298312ae24cf X_26886222_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 26886222 A AT 260 PASS - Ins - 1 5 MSH6 child X_26886222_AAT_MSH6 1 1 - - - - Ins 1e5661aa-3279-11e6-9972-dabcecf1e924 3_135321917_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 3 135321917 AT A 600 PASS - Del - 1 6 NEIL1 child 3_135321917_ATA_NEIL1 1 1 1 T 5 T Repeat-mediated 1e68167c-3286-11e6-9efa-64528e4678dd 6_145048738_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 6 145048738 CA C 480 PASS UTRN Del intronic 1 7 EXO1 child 6_145048738_CAC_EXO1 1 1 1 A 6 A Repeat-mediated 1e6a84e4-3348-11e6-b0ff-c495e84777f6 10_27789776_GGACA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 27789776 G GACA 300 PASS RAB18 Ins upstream 3 5 FANCC child 10_27789776_GGACA_FANCC 3 3 - - - - Ins 1e6f9ba2-3323-11e6-be49-204207e9a829 1_163503396_AGA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 1 163503396 AG A 300 PASS - Del - 1 1 POLE child 1_163503396_AGA_POLE 1 1 0 - 0 G None 1e6ff7e6-3288-11e6-8734-49a538e8a824 15_68782389_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 15 68782389 AT A 480 PASS - Del - 1 8 NUDT1 parent 15_68782389_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 1e7afd22-329b-11e6-b549-1e5325c9da85 10_75701439_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 75701439 CT C 900 PASS - Del - 1 8 MSH6 child 10_75701439_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1e81a84c-3288-11e6-8404-8e1fbce6aa09 8_90773377_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 90773377 GT G 420 PASS RIPK2 Del intronic 1 7 MSH6 child 8_90773377_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 1e81cbc0-328c-11e6-aa75-90c36f39e758 13_54699269_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 54699269 TA T 660 PASS LINC00458 Del intronic 1 9 MSH6 child 13_54699269_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 1e8250e4-326f-11e6-bbd0-e88a64f80bad 16_5098794_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 16 5098794 GA G 360 PASS C16orf89 Del intronic 1 9 EXO1 parent 16_5098794_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 1e87e240-3321-11e6-a5ff-2d2ef7d33ce3 10_89467823_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 10 89467823 AT A 360 PASS PAPSS2 Del intronic 1 6 CHK2 child 10_89467823_ATA_CHK2 1 1 1 T 5 T Repeat-mediated 1e8d306e-327d-11e6-89da-51be4dc77248 15_70760322_CATC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 15 70760322 CAT C 600 PASS - Del - 2 1 NUDT1 child 15_70760322_CATC_NUDT1 2 2 1 A 0 - Microhomology-mediated 1e8dd142-329e-11e6-bc66-17b4cc638e3d 8_40087902_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 40087902 AT A 420 PASS - Del - 1 7 MSH6 child 8_40087902_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1e8e0754-328d-11e6-bfa2-581f0e01a414 7_26622594_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 26622594 CA C 420 PASS - Del - 1 8 MSH6 child 7_26622594_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 1e957c48-329a-11e6-aca6-b39fcc638e3d 2_25392915_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 25392915 AT A 720 PASS POMC Del upstream 1 7 MSH6 child 2_25392915_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1e997258-329f-11e6-94ca-0aaecc638e3d X_95668363_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 95668363 AT A 480 PASS - Del - 1 9 MSH6 child X_95668363_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1ea8cd8a-3285-11e6-a722-38d09b6d3b88 3_103665354_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 103665354 CA C 480 PASS - Del - 1 4 EXO1 child 3_103665354_CAC_EXO1 1 1 1 A 3 A Repeat-mediated 1ea9c2dc-3274-11e6-a6a8-746da178171f 4_2667419_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 4 2667419 TA T 600 PASS FAM193A Del intronic 1 9 NEIL1 child 4_2667419_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 1eaef358-3254-11e6-8ebc-3ef212ae24cf 15_49465859_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 49465859 GT G 480 PASS GALK2 Del intronic 1 9 MSH6 child 15_49465859_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 1eb2bd9a-329e-11e6-bc66-17b4cc638e3d 8_40166216_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 40166216 TA T 780 PASS CTA-392C11.1 Del intronic 1 8 MSH6 child 8_40166216_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 1ec76818-3270-11e6-8418-1c5942c4520d 3_15815179_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 15815179 GA G 300 PASS ANKRD28 Del intronic 1 7 MSH6 child 3_15815179_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 1ed1d93c-3285-11e6-a0a8-096ea2c71c31 11_68060849_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 68060849 TA T 420 PASS - Del - 1 5 MSH6 child 11_68060849_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 1ed62fe8-3279-11e6-a391-f6d67d6a9fc7 6_111548336_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 111548336 GA G 420 PASS SLC16A10 Del downstream 1 9 MSH6 child 6_111548336_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1ee031c0-3272-11e6-90d3-9639fc77b11e 13_94708471_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 13 94708471 CT C 300 PASS GPC6 Del intronic 1 7 MSH6 parent 13_94708471_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 1ee53352-3293-11e6-a24a-86b34430f757 5_162210995_TTA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 5 162210995 T TA 300 PASS - Ins - 1 8 POLE child 5_162210995_TTA_POLE 1 1 - - - - Ins 1eeb6bfe-328f-11e6-9230-fb250e01a414 3_77247897_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 77247897 CA C 300 PASS ROBO2 Del intronic 1 7 MSH6 child 3_77247897_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 1eebdb64-334f-11e6-911d-cdceb0dab373 9_103509504_AAGT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 9 103509504 A AGT 720 PASS - Ins - 2 0 FANCC child 9_103509504_AAGT_FANCC 2 2 - - - - Ins 1eec6846-3290-11e6-8954-6972fc77b11e 4_125385135_ACTTTA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 4 125385135 ACTTT A 420 PASS - Del - 4 1 POLE child 4_125385135_ACTTTA_POLE 4 4 3 CTT 0 - Microhomology-mediated 1eed24c2-3284-11e6-b996-7c3e51c54cdd 14_27300208_CGC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 14 27300208 CG C 840 PASS RP11-626P14.2 Del intronic 1 7 EXO1 child 14_27300208_CGC_EXO1 1 1 1 G 6 G Repeat-mediated 1eef7d92-3286-11e6-8b67-086ea2c71c31 1_153606850_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 153606850 GA G 360 PASS CHTOP Del intronic 1 1 MSH6 child 1_153606850_GAG_MSH6 1 1 0 - 0 A None 1ef09084-3271-11e6-b89d-b2d6b0dab373 4_110386016_ATAGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 110386016 ATAG A 360 PASS SEC24B Del intronic 3 2 MSH6 child 4_110386016_ATAGA_MSH6 3 3 3 TAG 1 TAG Repeat-mediated 1ef57754-3297-11e6-8cdf-7a91faf1a024 16_69742088_CTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 16 69742088 CT C 300 PASS NFAT5 Del downstream 1 9 CHK2 child 16_69742088_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 1ef73772-328a-11e6-a100-84090e01a414 18_57139730_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 57139730 AT A 300 PASS CCBE1 Del intronic 1 6 MSH6 child 18_57139730_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 1ef9261a-32a1-11e6-aea7-956725c9da85 3_178088188_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 178088188 AT A 300 PASS RP11-33A14.1 Del intronic 1 7 MSH6 child 3_178088188_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1efaf20e-3276-11e6-83cd-a472a178171f 4_77133132_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 77133132 AC A 660 PASS SCARB2 Del intronic 1 5 MSH6 child 4_77133132_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 1f0483bc-334a-11e6-a997-309d38e8a824 4_135813730_AAATGTCTATATCTTGCTCTTGTTCTGAATTTAGTCAGACCTTTACCACCACTTTATCTGTCTGCTTCCAGTGCCTGCCTTCCTGTGCCTAAGTTCCTGTCAATTTACCTTTTTAGTAGATTTGTTCTTCTGGAATTATGGTCTTATTTGCTAATCTAACCCATCTTCATGGAGTTTGTATTACTTGGATCTAAACCATGAAGAGAACAGATTTCCAGGCTTCTAGGGACACTGTTCACATGTGATGATATGTGATGCTCACATGCTTAGATCTCCCTTTATTGCCTAGTTAATGTCTTGTTTAAAGACAATCTTTGCCTGATCATTAATATCTCTTTAATCTATTTTTTCCAATATGTTCATTTCCTCTTGAGATGTGCCTAAGCCCTGGACGTGACATGTCCAGGTATTGGGTTACTTAGAAAAATGTTTCTGCTCTATAGTTTTAAAATAAGCTATCTTTTACCCCAGCTTCTCTTCTGAGTCACAGCCATGCTGATGCTATTTGCTGGTACTAGATTTATGTACCAAGACTACAGCATCATTTAAAATATGGTATTTCTATATTGTAAAATCCATCAGTAGTGCTCCGTTGCATATAGGATGCTTTACTCTCAGGCCTGTTCATAATTCTTGCAATATGCTTTCTTCACTTTTCAAATCCATCCTCAAACTCCTCAGTATATTATCCCAGTGCAGTCAAAATTGTATATAAGCCCCCCAAATGCATGTGTATACATAGATACATATATATTTTTAAACCTTGCTGAAGTTCCAATTTGTGAAGTATCTTTTTTTTATCACCACCAGTCTCCAGTGACCTCACCTTCCCAGTGTCTAAAACACTATTATCTAAACACAATGTGAAACTGTCATTTGAAACTTTATGCTTTACTTGAACTAAATTTTAAAGCCAGTACACAGAACACATTGTTAAGACCCTTGAACAGTAACTTGTTAAATTAGTAAGAAATGAAATAAAACACTTTAAATTATTCAATTATATAAATAGCTCGATGGGTCATTTGTGAATGGATAGATATCATAATTTTGGTTCTCCCAGAAGTAGACCTTGAGACACATAATAGAGTGCAAATAGATTGTTTGGGAAGAAATTCCATGAACATGATTAAAACCCTAAGGAAATAACACCCTAAGGA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 135813730 AAATGTCTATATCTTGCTCTTGTTCTGAATTTAGTCAGACCTTTACCACCACTTTATCTGTCTGCTTCCAGTGCCTGCCTTCCTGTGCCTAAGTTCCTGTCAATTTACCTTTTTAGTAGATTTGTTCTTCTGGAATTATGGTCTTATTTGCTAATCTAACCCATCTTCATGGAGTTTGTATTACTTGGATCTAAACCATGAAGAGAACAGATTTCCAGGCTTCTAGGGACACTGTTCACATGTGATGATATGTGATGCTCACATGCTTAGATCTCCCTTTATTGCCTAGTTAATGTCTTGTTTAAAGACAATCTTTGCCTGATCATTAATATCTCTTTAATCTATTTTTTCCAATATGTTCATTTCCTCTTGAGATGTGCCTAAGCCCTGGACGTGACATGTCCAGGTATTGGGTTACTTAGAAAAATGTTTCTGCTCTATAGTTTTAAAATAAGCTATCTTTTACCCCAGCTTCTCTTCTGAGTCACAGCCATGCTGATGCTATTTGCTGGTACTAGATTTATGTACCAAGACTACAGCATCATTTAAAATATGGTATTTCTATATTGTAAAATCCATCAGTAGTGCTCCGTTGCATATAGGATGCTTTACTCTCAGGCCTGTTCATAATTCTTGCAATATGCTTTCTTCACTTTTCAAATCCATCCTCAAACTCCTCAGTATATTATCCCAGTGCAGTCAAAATTGTATATAAGCCCCCCAAATGCATGTGTATACATAGATACATATATATTTTTAAACCTTGCTGAAGTTCCAATTTGTGAAGTATCTTTTTTTTATCACCACCAGTCTCCAGTGACCTCACCTTCCCAGTGTCTAAAACACTATTATCTAAACACAATGTGAAACTGTCATTTGAAACTTTATGCTTTACTTGAACTAAATTTTAAAGCCAGTACACAGAACACATTGTTAAGACCCTTGAACAGTAACTTGTTAAATTAGTAAGAAATGAAATAAAACACTTTAAATTATTCAATTATATAAATAGCTCGATGGGTCATTTGTGAATGGATAGATATCATAATTTTGGTTCTCCCAGAAGTAGACCTTGAGACACATAATAGAGTGCAAATAGATTGTTTGGGAAGAAATTCCATGAACATGATTAAAACCCTAAGGAAATAACACCCTAAGG A 360 PASS - Del - 1158 1 FANCC child 4_135813730_AAATGTCTATATCTTGCTCTTGTTCTGAATTTAGTCAGACCTTTACCACCACTTTATCTGTCTGCTTCCAGTGCCTGCCTTCCTGTGCCTAAGTTCCTGTCAATTTACCTTTTTAGTAGATTTGTTCTTCTGGAATTATGGTCTTATTTGCTAATCTAACCCATCTTCATGGAGTTTGTATTACTTGGATCTAAACCATGAAGAGAACAGATTTCCAGGCTTCTAGGGACACTGTTCACATGTGATGATATGTGATGCTCACATGCTTAGATCTCCCTTTATTGCCTAGTTAATGTCTTGTTTAAAGACAATCTTTGCCTGATCATTAATATCTCTTTAATCTATTTTTTCCAATATGTTCATTTCCTCTTGAGATGTGCCTAAGCCCTGGACGTGACATGTCCAGGTATTGGGTTACTTAGAAAAATGTTTCTGCTCTATAGTTTTAAAATAAGCTATCTTTTACCCCAGCTTCTCTTCTGAGTCACAGCCATGCTGATGCTATTTGCTGGTACTAGATTTATGTACCAAGACTACAGCATCATTTAAAATATGGTATTTCTATATTGTAAAATCCATCAGTAGTGCTCCGTTGCATATAGGATGCTTTACTCTCAGGCCTGTTCATAATTCTTGCAATATGCTTTCTTCACTTTTCAAATCCATCCTCAAACTCCTCAGTATATTATCCCAGTGCAGTCAAAATTGTATATAAGCCCCCCAAATGCATGTGTATACATAGATACATATATATTTTTAAACCTTGCTGAAGTTCCAATTTGTGAAGTATCTTTTTTTTATCACCACCAGTCTCCAGTGACCTCACCTTCCCAGTGTCTAAAACACTATTATCTAAACACAATGTGAAACTGTCATTTGAAACTTTATGCTTTACTTGAACTAAATTTTAAAGCCAGTACACAGAACACATTGTTAAGACCCTTGAACAGTAACTTGTTAAATTAGTAAGAAATGAAATAAAACACTTTAAATTATTCAATTATATAAATAGCTCGATGGGTCATTTGTGAATGGATAGATATCATAATTTTGGTTCTCCCAGAAGTAGACCTTGAGACACATAATAGAGTGCAAATAGATTGTTTGGGAAGAAATTCCATGAACATGATTAAAACCCTAAGGAAATAACACCCTAAGGA_FANCC 1158 >=10 2 AA 0 - Microhomology-mediated 1f0d2da0-3273-11e6-8f33-a6d9cde16804 11_66896554_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 66896554 TA T 600 PASS KDM2A Del intronic 1 7 MSH6 child 11_66896554_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 1f0f5d04-3288-11e6-8404-8e1fbce6aa09 8_90940685_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 90940685 TC T 420 PASS NBN Del downstream 1 8 MSH6 child 8_90940685_TCT_MSH6 1 1 1 C 7 C Repeat-mediated 1f1c26b2-3277-11e6-9bb2-e658c225ee11 20_14603822_GGT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 20 14603822 G GT 300 PASS MACROD2 Ins intronic 1 7 EXO1 parent 20_14603822_GGT_EXO1 1 1 - - - - Ins 1f1c6b34-32a1-11e6-94ca-0aaecc638e3d X_96612465_TTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 96612465 T TC 300 PASS DIAPH2 Ins intronic 1 5 MSH6 child X_96612465_TTC_MSH6 1 1 - - - - Ins 1f243484-3325-11e6-ada1-2957fc77b11e 5_154810040_TTGT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 5 154810040 TTG T 720 PASS - Del - 2 2 POLE child 5_154810040_TTGT_POLE 2 2 2 TG 1 TG Repeat-mediated 1f277758-3270-11e6-a073-e3d0d7fd0a58 13_109229118_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 13 109229118 CT C 540 PASS - Del - 1 9 NUDT1 child 13_109229118_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 1f2f04a8-3286-11e6-80aa-1e3936fc2f7d 6_123384371_CTC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 6 123384371 CT C 300 PASS CLVS2 Del intronic 1 8 NUDT1 child 6_123384371_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 1f385a44-3290-11e6-9432-c0e56f39e758 5_108023763_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 108023763 CA C 420 PASS - Del - 1 6 MSH6 child 5_108023763_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 1f476a2e-3282-11e6-8049-10fc028949d4 1_180292663_GTCTCG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 1 180292663 GTCTC G 660 PASS ACBD6 Del intronic 4 6 POLM child 1_180292663_GTCTCG_POLM 4 4 4 TCTC 4 TC Repeat-mediated 1f4cca34-328f-11e6-bfa2-581f0e01a414 7_144805431_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 144805431 GA G 540 PASS - Del - 1 8 MSH6 child 7_144805431_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1f51d2ae-3325-11e6-ada1-2957fc77b11e 5_154874262_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 5 154874262 AT A 540 PASS - Del - 1 7 POLE child 5_154874262_ATA_POLE 1 1 1 T 6 T Repeat-mediated 1f534bca-3253-11e6-b4e1-b8e612ae24cf 18_50040521_GGTA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 18 50040521 G GTA 300 PASS DCC Ins intronic 2 5 POLB child 18_50040521_GGTA_POLB 2 2 - - - - Ins 1f53f8b0-329c-11e6-8069-175325c9da85 12_129357414_GTCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 129357414 GTC G 600 PASS GLT1D1 Del intronic 2 7 MSH6 child 12_129357414_GTCG_MSH6 2 2 2 TC 6 TC Repeat-mediated 1f5844b8-3276-11e6-9e0f-7959cab49462 7_46804857_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 46804857 AG A 660 PASS - Del - 1 5 MSH6 child 7_46804857_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 1f62de90-3290-11e6-bd11-15ea6f39e758 21_47955469_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 21 47955469 CA C 300 PASS DIP2A Del intronic 1 7 MSH6 child 21_47955469_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 1f7c20a4-3276-11e6-9e0f-7959cab49462 7_46840477_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 46840477 CT C 540 PASS - Del - 1 6 MSH6 child 7_46840477_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 1f7c808e-329a-11e6-bda6-065325c9da85 13_34286849_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 34286849 GA G 660 PASS - Del - 1 9 MSH6 child 13_34286849_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1f858e02-3288-11e6-bea5-2b9c20e7b7a8 17_37538745_ACA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 17 37538745 AC A 290 PASS FBXL20 Del intronic 1 1 POLE child 17_37538745_ACA_POLE 1 1 0 - 0 C None 1f91b016-3291-11e6-b77d-2eef6f39e758 6_38211335_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 38211335 GA G 720 PASS BTBD9 Del intronic 1 8 MSH6 child 6_38211335_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 1f9d329e-32a3-11e6-b970-398625c9da85 20_49702896_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 49702896 AT A 780 PASS - Del - 1 7 MSH6 child 20_49702896_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 1f9dbbb8-329b-11e6-a0ea-135325c9da85 15_67858067_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 67858067 CT C 1260 PASS MAP2K5 Del intronic 1 8 MSH6 child 15_67858067_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 1fa3ba22-328c-11e6-bd84-429305ad5bc4 1_73930623_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 73930623 TA T 300 PASS - Del - 1 7 MSH6 child 1_73930623_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 1fa45a1c-3274-11e6-b7b8-aca7ecf1e924 12_29284379_AGA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 12 29284379 AG A 660 PASS - Del - 1 5 NEIL1 child 12_29284379_AGA_NEIL1 1 1 1 G 4 G Repeat-mediated 1fb1fbac-3276-11e6-a862-bc9becf1e924 1_249193573_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 249193573 CA C 540 PASS - Del - 1 6 MSH6 child 1_249193573_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 1fb426c4-329a-11e6-9048-b49fcc638e3d 17_12066746_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 12066746 AT A 900 PASS - Del - 1 6 MSH6 child 17_12066746_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 1fb52434-3290-11e6-9230-fb250e01a414 3_145335996_ATGACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 145335996 ATGAC A 660 PASS - Del - 4 1 MSH6 child 3_145335996_ATGACA_MSH6 4 4 3 TGA 0 - Microhomology-mediated 1fc65812-3281-11e6-befb-a32236fc2f7d 2_35254632_CAC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 2 35254632 CA C 540 PASS AC012593.1 Del intronic 1 6 NUDT1 child 2_35254632_CAC_NUDT1 1 1 1 A 5 A Repeat-mediated 1fcd0296-3288-11e6-a0f6-76a56f39e758 7_148116511_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 7 148116511 CT C 300 PASS CNTNAP2 Del 3prime_UTR_variant 1 8 EXO1 child 7_148116511_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 1fcfcc9a-326c-11e6-a247-c785191589db 12_7609666_ATA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 12 7609666 AT A 600 PASS - Del - 1 1 POLM parent 12_7609666_ATA_POLM 1 1 0 - 0 T None 1fd1315c-3258-11e6-971b-98a02aaffa45 5_131330193_GCG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 5 131330193 GC G 840 PASS ACSL6 Del intronic 1 3 POLM child 5_131330193_GCG_POLM 1 1 1 C 2 C Repeat-mediated 1fd5074e-3287-11e6-940d-53a538e8a824 2_16645329_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 16645329 GA G 540 PASS - Del - 1 7 NUDT1 parent 2_16645329_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 1fecbe74-328d-11e6-b9c4-751d0e01a414 5_54291419_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 54291419 AT A 300 PASS ESM1 Del intronic 1 9 MSH6 child 5_54291419_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 1ff554f4-329b-11e6-8069-175325c9da85 12_75278514_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 75278514 GA G 420 PASS - Del - 1 9 MSH6 child 12_75278514_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 1ffe8a06-325a-11e6-91d3-a68412ae24cf 7_111150728_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 111150728 C CA 420 PASS IMMP2L Ins intronic 1 1 MSH6 child 7_111150728_CCA_MSH6 1 1 - - - - Ins 2001cc9e-326d-11e6-b9f4-5d1d694da5d2 14_55819410_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 55819410 CA C 360 PASS FBXO34 Del 3prime_UTR_variant 1 7 MSH6 child 14_55819410_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 200816f6-3274-11e6-a5d0-4fd14a47a305 2_153571935_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 153571935 TA T 600 PASS PRPF40A Del intronic 1 9 MSH6 child 2_153571935_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2008984a-328f-11e6-944d-00b812ae24cf 6_94898204_TTGAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 6 94898204 TTGA T 300 PASS RP3-463P15.1 Del intronic 3 1 CHK2 child 6_94898204_TTGAT_CHK2 3 3 1 T 0 - Microhomology-mediated 2018310c-3284-11e6-9e78-7d3e51c54cdd 2_15479745_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 15479745 CA C 480 PASS NBAS Del intronic 1 5 EXO1 child 2_15479745_CAC_EXO1 1 1 1 A 4 A Repeat-mediated 2022def2-3277-11e6-9e0f-7959cab49462 7_109022888_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 109022888 CA C 525 PASS - Del - 1 7 MSH6 child 7_109022888_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 20231e0e-3285-11e6-8b67-086ea2c71c31 1_55649671_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 55649671 GA G 660 PASS USP24 Del intronic 1 6 MSH6 child 1_55649671_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 202bf4de-329e-11e6-b549-1e5325c9da85 10_126446287_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 126446287 C CA 360 PASS METTL10 Ins downstream 1 9 MSH6 child 10_126446287_CCA_MSH6 1 1 - - - - Ins 20315cb4-3288-11e6-a5b3-3f1ebce6aa09 7_157702078_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 157702078 TG T 540 PASS PTPRN2 Del intronic 1 9 MSH6 child 7_157702078_TGT_MSH6 1 1 1 G 8 G Repeat-mediated 203209fe-3272-11e6-950d-d529694da5d2 16_80950258_CAC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 16 80950258 CA C 360 PASS - Del - 1 8 CHK2 child 16_80950258_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 203768b6-325b-11e6-8cd9-139b7872c165 3_60988355_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 60988355 C CT 420 PASS FHIT Ins intronic 1 9 MSH6 child 3_60988355_CCT_MSH6 1 1 - - - - Ins 2039c356-3321-11e6-aa01-c73272d7bc54 12_46262670_GTG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 12 46262670 GT G 780 PASS ARID2 Del intronic 1 6 EXO1 child 12_46262670_GTG_EXO1 1 1 1 T 5 T Repeat-mediated 204134c8-3273-11e6-8f33-a6d9cde16804 11_67279319_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 67279319 TA T 480 PASS CDK2AP2 Del upstream 1 7 MSH6 child 11_67279319_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 204e54a4-3288-11e6-8b67-086ea2c71c31 1_69675526_TTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 69675526 T TC 300 PASS - Ins - 1 1 MSH6 child 1_69675526_TTC_MSH6 1 1 - - - - Ins 204ec928-3320-11e6-9b79-b58f0cfb5812 1_22422116_TAT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 1 22422116 TA T 660 PASS CDC42 Del downstream 1 8 POLE child 1_22422116_TAT_POLE 1 1 1 A 7 A Repeat-mediated 20588754-326e-11e6-b306-b5204b47a305 2_135414139_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 135414139 TC T 285 PASS TMEM163 Del intronic 1 6 MSH6 child 2_135414139_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 205b2cde-328c-11e6-9892-02ba5d753391 5_146360625_ATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 5 146360625 AT A 300 PASS PPP2R2B Del intronic 1 9 POLE child 5_146360625_ATA_POLE 1 1 1 T 8 T Repeat-mediated 205e3fac-32a3-11e6-b970-398625c9da85 20_49849605_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 49849605 AC A 480 PASS - Del - 1 8 MSH6 child 20_49849605_ACA_MSH6 1 1 1 C 7 C Repeat-mediated 2064c890-329e-11e6-b696-dd6225c9da85 5_64595394_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 64595394 GT G 780 PASS ADAMTS6 Del intronic 1 9 MSH6 child 5_64595394_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 2064f448-3274-11e6-9210-65fa620e6611 5_165838163_CATTTTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 165838163 CATTTT C 540 PASS - Del - 5 1 EXO1 parent 5_165838163_CATTTTC_EXO1 5 5 1 A 0 - Microhomology-mediated 206da668-3271-11e6-9309-bdc34a47a305 8_93707849_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 93707849 CT C 300 PASS - Del - 1 6 MSH6 child 8_93707849_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 20760638-329d-11e6-bc2c-2a5e25c9da85 4_14775381_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 14775381 GA G 780 PASS LINC00504 Del intronic 1 9 MSH6 child 4_14775381_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 20781776-32a1-11e6-bc2c-2a5e25c9da85 4_70291262_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 70291262 C CT 660 PASS - Ins - 1 8 MSH6 child 4_70291262_CCT_MSH6 1 1 - - - - Ins 20817d22-326d-11e6-9d68-ac9acab49462 15_47402565_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 47402565 AT A 360 PASS - Del - 1 9 MSH6 child 15_47402565_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2083affa-328d-11e6-ab2c-1d6bfc77b11e 14_69015860_GCTGTG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 14 69015860 GCTGT G 380 PASS RAD51B Del intronic 4 2 POLE child 14_69015860_GCTGTG_POLE 4 4 4 CTGT 1 CTGT Repeat-mediated 208d4b68-3257-11e6-a304-347a7872c165 1_247362106_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 247362106 TA T 540 PASS MIR3916 Del downstream 1 6 MSH6 child 1_247362106_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 20972a96-3286-11e6-b093-c9c7b0dab373 2_140757065_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 140757065 AT A 300 PASS - Del - 1 6 MSH6 child 2_140757065_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 209f0aea-3321-11e6-b11e-cd7b90e2c2e6 15_69254795_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 15 69254795 AT A 420 PASS NOX5 Del intronic 1 7 POLE child 15_69254795_ATA_POLE 1 1 1 T 6 T Repeat-mediated 209ffcae-328e-11e6-bb1e-70e16f39e758 X_25530725_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 25530725 GT G 420 PASS - Del - 1 9 MSH6 child X_25530725_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 20a08570-329d-11e6-bc2c-2a5e25c9da85 4_14844986_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 14844986 TA T 420 PASS LINC00504 Del intronic 1 4 MSH6 child 4_14844986_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 20a14bba-3291-11e6-aac9-4e6b694da5d2 3_66812472_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 3 66812472 AT A 300 PASS - Del - 1 8 POLM child 3_66812472_ATA_POLM 1 1 1 T 7 T Repeat-mediated 20a63c2e-3255-11e6-acd5-c91dee3c4f5d 4_128586288_AGA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 4 128586288 AG A 360 PASS INTU Del intronic 1 1 POLB child 4_128586288_AGA_POLB 1 1 0 - 0 G None 20b3791e-329d-11e6-9048-b49fcc638e3d 17_69497796_CCAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 69497796 C CAG 300 PASS - Ins - 2 1 MSH6 child 17_69497796_CCAG_MSH6 2 2 - - - - Ins 20b42676-329c-11e6-aca6-b39fcc638e3d 2_154562520_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 154562520 CT C 300 PASS - Del - 1 8 MSH6 child 2_154562520_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 20bd927c-3276-11e6-83cd-a472a178171f 4_77634160_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 77634160 TA T 420 PASS SHROOM3 Del intronic 1 5 MSH6 child 4_77634160_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 20c62490-3286-11e6-a7ff-5779a178171f 10_28644861_TTTTTGTCTACTCGGTAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 28644861 TTTTTGTCTACTCGGTA T 360 PASS - Del - 16 1 FANCC child 10_28644861_TTTTTGTCTACTCGGTAT_FANCC 16 >=10 1 T 0 - Microhomology-mediated 20ce9ef8-3322-11e6-9ab5-b30c2eaed38e 10_123315202_CAGC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 10 123315202 CAG C 360 PASS FGFR2 Del intronic 2 1 EXO1 child 10_123315202_CAGC_EXO1 2 2 1 A 0 - Microhomology-mediated 20d02f1c-329a-11e6-a5cf-205325c9da85 11_17358814_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 17358814 TA T 540 PASS - Del - 1 7 MSH6 child 11_17358814_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 20d08392-329d-11e6-b696-dd6225c9da85 5_3997024_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 3997024 TA T 600 PASS - Del - 1 9 MSH6 child 5_3997024_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 20d52572-3276-11e6-ab69-1c1607e9a829 9_118875018_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 118875018 GA G 540 PASS - Del - 1 9 MSH6 child 9_118875018_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 20e10c6e-3322-11e6-8250-3bb0cde16804 15_95829917_TAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 15 95829917 TA T 900 PASS CTD-2536I1.1 Del intronic 1 9 CHK2 child 15_95829917_TAT_CHK2 1 1 1 A 8 A Repeat-mediated 20e33a0e-3276-11e6-8295-ecba9b6d3b88 5_81342934_GAG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 5 81342934 GA G 480 PASS ATG10 Del intronic 1 8 EXO1 child 5_81342934_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 20ea7838-3289-11e6-a19d-3c763adbad45 4_30087795_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 30087795 TA T 420 PASS - Del - 1 8 NUDT1 parent 4_30087795_TAT_NUDT1 1 1 1 A 7 A Repeat-mediated 20f62f5a-326d-11e6-9003-ae204b47a305 19_21727346_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 21727346 GT G 360 PASS - Del - 1 9 MSH6 child 19_21727346_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 20fa3f22-3291-11e6-b0cf-8b7219a91649 7_23463474_TAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGAAGTTCGAGACCAGCCTGATCAACATGGTGAAACCTCGTCTCTACTAAAAACATAAAAATTAGCTGGGCATGGTGGTATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGCAGAATTGCTTGAACCCGGGAGACGGAGGTTGCAGTTAGCCAAGACTGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAACAAAAAAATTTTTTTTTCAACACAGTTTAAGGGTTCCCCACCAGAGGGGAAATACGGTAAATTTTAGTTCTCAGGCTAATAGATTAAAAATTTAAAGGCCAGGCGCAGTGGCTCT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 23463474 TAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGAAGTTCGAGACCAGCCTGATCAACATGGTGAAACCTCGTCTCTACTAAAAACATAAAAATTAGCTGGGCATGGTGGTATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGCAGAATTGCTTGAACCCGGGAGACGGAGGTTGCAGTTAGCCAAGACTGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAACAAAAAAATTTTTTTTTCAACACAGTTTAAGGGTTCCCCACCAGAGGGGAAATACGGTAAATTTTAGTTCTCAGGCTAATAGATTAAAAATTTAAAGGCCAGGCGCAGTGGCTC T 291 PASS IGF2BP3 Del intronic 379 1 NEIL1 child 7_23463474_TAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGAAGTTCGAGACCAGCCTGATCAACATGGTGAAACCTCGTCTCTACTAAAAACATAAAAATTAGCTGGGCATGGTGGTATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGCAGAATTGCTTGAACCCGGGAGACGGAGGTTGCAGTTAGCCAAGACTGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAACAAAAAAATTTTTTTTTCAACACAGTTTAAGGGTTCCCCACCAGAGGGGAAATACGGTAAATTTTAGTTCTCAGGCTAATAGATTAAAAATTTAAAGGCCAGGCGCAGTGGCTCT_NEIL1 379 >=10 29 AAGCCTGTAATCCCAGCACTTTGGGAGGC 0 - Microhomology-mediated 2103bcbc-3257-11e6-a39a-dc8512ae24cf 8_27695148_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 27695148 CA C 360 PASS PBK Del intronic 1 9 MSH6 child 8_27695148_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 21067056-3329-11e6-a435-b8ae4430f757 20_56021269_TGAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 20 56021269 TGA T 540 PASS - Del - 2 7 CHK2 child 20_56021269_TGAT_CHK2 2 2 2 GA 6 GA Repeat-mediated 2107962c-3273-11e6-a862-bc9becf1e924 1_44129473_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 44129473 CT C 660 PASS KDM4A Del intronic 1 9 MSH6 child 1_44129473_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 21113766-329d-11e6-bc2c-2a5e25c9da85 4_15070967_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 15070967 TA T 1020 PASS CPEB2 Del 3prime_UTR_variant 1 9 MSH6 child 4_15070967_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 21121476-3291-11e6-835c-61b3e7d0bdd7 21_22427518_TATAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 21 22427518 TATA T 300 PASS NCAM2 Del intronic 3 5 FANCC child 21_22427518_TATAT_FANCC 3 3 3 ATA 4 ATA Repeat-mediated 211315a0-3288-11e6-a8ac-a28ea2c71c31 3_48428834_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 48428834 GT G 720 PASS FBXW12 Del intronic 1 7 MSH6 child 3_48428834_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 211ce37a-3286-11e6-8b67-086ea2c71c31 1_154025200_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 154025200 CA C 540 PASS NUP210L Del intronic 1 5 MSH6 child 1_154025200_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 211cedfc-3254-11e6-9f9d-2c7a7872c165 12_40505629_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 40505629 GA G 480 PASS - Del - 1 8 MSH6 child 12_40505629_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 211f34f0-3258-11e6-a7ac-209a7872c165 22_23721435_CCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 23721435 C CG 420 PASS - Ins - 1 6 MSH6 child 22_23721435_CCG_MSH6 1 1 - - - - Ins 21233b08-3277-11e6-a2b7-2d8b671699ea 21_46228127_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 46228127 TA T 600 PASS SUMO3 Del intronic 1 9 MSH6 child 21_46228127_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 212bfa5e-3254-11e6-89d3-d29498816cf3 2_65452694_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 65452694 CT C 420 PASS ACTR2 Del upstream 1 8 MSH6 child 2_65452694_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 212c1232-3259-11e6-885f-d1947872c165 4_4457990_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 4457990 C CA 360 PASS STX18 Ins intronic 1 7 MSH6 child 4_4457990_CCA_MSH6 1 1 - - - - Ins 2138e648-329e-11e6-bc2c-2a5e25c9da85 4_78809871_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 78809871 AT A 300 PASS MRPL1 Del intronic 1 8 MSH6 child 4_78809871_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 214222ac-3295-11e6-b963-13387a852e0e 3_159488050_TTATCT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 3 159488050 TTATC T 300 PASS IQCJ-SCHIP1 Del intronic 4 1 CHK2 child 3_159488050_TTATCT_CHK2 4 4 3 TAT 0 - Microhomology-mediated 21467992-3290-11e6-b805-77090e01a414 2_201056822_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 201056822 C CA 420 PASS - Ins - 1 5 MSH6 child 2_201056822_CCA_MSH6 1 1 - - - - Ins 21491126-328a-11e6-a80b-87090e01a414 11_55867722_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 55867722 GA G 420 PASS OR8H2 Del upstream 1 8 MSH6 child 11_55867722_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2150775e-3271-11e6-b18b-f276a20b69d5 17_39450260_CTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 17 39450260 CT C 540 PASS - Del - 1 8 POLB child 17_39450260_CTC_POLB 1 1 1 T 7 T Repeat-mediated 2152af60-328f-11e6-ad16-6b56f0f7a29c 10_74363590_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 10 74363590 CA C 540 PASS MICU1 Del intronic 1 7 NEIL1 child 10_74363590_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated 21563e38-3324-11e6-aad6-fc2b9a696edf 9_7456676_GAAGAAAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 7456676 GAAGAAA G 540 PASS - Del - 6 2 EXO1 child 9_7456676_GAAGAAAG_EXO1 6 6 6 AAGAAA 1 AAGAAA Repeat-mediated 215df648-329b-11e6-ae71-0c5325c9da85 1_63602018_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 63602018 CT C 360 PASS RP11-335E6.2 Del upstream 1 9 MSH6 child 1_63602018_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 216e2594-328d-11e6-b9c4-751d0e01a414 5_54649607_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 54649607 CA C 540 PASS SKIV2L2 Del intronic 1 9 MSH6 child 5_54649607_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 21703488-3279-11e6-8c34-46e27872c165 5_80675304_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 80675304 T TA 360 PASS ACOT12 Ins intronic 1 9 MSH6 child 5_80675304_TTA_MSH6 1 1 - - - - Ins 2170bc0a-3274-11e6-98e1-30573cfdbd24 9_94014223_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 9 94014223 AT A 300 PASS AUH Del intronic 1 8 MSH6 parent 9_94014223_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 21776d26-328c-11e6-ac7a-a3c36f39e758 18_41362302_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 41362302 CT C 480 PASS - Del - 1 8 MSH6 child 18_41362302_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 217bb62e-327d-11e6-809e-fbdaeff7a29c 12_65417933_TATAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 12 65417933 TATA T 720 PASS RP11-168J19.2 Del downstream 3 2 POLB parent 12_65417933_TATAT_POLB 3 3 3 ATA 1 ATA Repeat-mediated 218062e4-3257-11e6-885f-d1947872c165 4_68415567_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 68415567 TA T 300 PASS CENPC Del upstream 1 9 MSH6 child 4_68415567_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 21867b88-328a-11e6-b74f-549ba2c71c31 20_32445248_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 32445248 CA C 300 PASS CHMP4B Del downstream 1 9 MSH6 child 20_32445248_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2187c09e-328d-11e6-bd84-429305ad5bc4 1_215101626_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 215101626 AT A 480 PASS - Del - 1 8 MSH6 child 1_215101626_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2195825a-329d-11e6-a5cf-e5abcc638e3d 9_74502209_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 74502209 TA T 600 PASS ABHD17B Del intronic 1 9 MSH6 child 9_74502209_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2198c720-3271-11e6-8ed8-0863a78019ab 5_172565712_GTG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 5 172565712 GT G 480 PASS CREBRF Del 3prime_UTR_variant 1 7 POLM parent 5_172565712_GTG_POLM 1 1 1 T 6 T Repeat-mediated 219a2a66-3348-11e6-b1a0-0d1e4ec77248 X_57631196_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA X 57631196 TA T 360 PASS - Del - 1 4 FANCC child X_57631196_TAT_FANCC 1 1 1 A 3 A Repeat-mediated 219d6296-328d-11e6-9c1f-afbe38e8a824 8_144864656_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 8 144864656 CT C 420 PASS - Del - 1 9 NUDT1 parent 8_144864656_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 219de69a-3291-11e6-b77d-2eef6f39e758 6_38808684_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 38808684 AT A 600 PASS DNAH8 Del intronic 1 9 MSH6 child 6_38808684_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 219e9a9a-329b-11e6-b129-195325c9da85 16_57418330_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 57418330 CT C 600 PASS CX3CL1 Del 3prime_UTR_variant 1 6 MSH6 child 16_57418330_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 21a2ce98-325b-11e6-8b28-55ad7872c165 20_36395658_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 36395658 TA T 540 PASS CTNNBL1 Del intronic 1 9 MSH6 child 20_36395658_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 21a6beec-3295-11e6-b77d-2eef6f39e758 6_144660900_AAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 144660900 A AC 900 PASS UTRN Ins intronic 1 4 MSH6 child 6_144660900_AAC_MSH6 1 1 - - - - Ins 21bcf7f0-327e-11e6-94f7-5bfe684da5d2 14_37402464_GCG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 14 37402464 GC G 840 PASS SLC25A21 Del intronic 1 4 NEIL1 child 14_37402464_GCG_NEIL1 1 1 1 C 3 C Repeat-mediated 21bd38b0-329b-11e6-a5cf-205325c9da85 11_77859474_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 77859474 GT G 960 PASS - Del - 1 8 MSH6 child 11_77859474_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 21d334ae-329a-11e6-a0ea-135325c9da85 15_29956065_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 29956065 AT A 767 PASS - Del - 1 2 MSH6 child 15_29956065_ATA_MSH6 1 1 1 T 1 T Repeat-mediated 21d6ec86-3289-11e6-b9eb-c78fa2c71c31 6_128442907_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 128442907 GT G 420 PASS PTPRK Del intronic 1 9 MSH6 child 6_128442907_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 21d87a12-3291-11e6-b6a6-1f1e0e01a414 4_94227243_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 94227243 G GT 360 PASS GRID2 Ins intronic 1 6 MSH6 child 4_94227243_GGT_MSH6 1 1 - - - - Ins 21ea23ba-3288-11e6-afcf-0311bce6aa09 9_127840505_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 127840505 C CA 480 PASS SCAI Ins intronic 1 7 MSH6 child 9_127840505_CCA_MSH6 1 1 - - - - Ins 21f304c4-3320-11e6-9b79-b58f0cfb5812 1_23030072_TAT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 1 23030072 TA T 540 PASS - Del - 1 9 POLE child 1_23030072_TAT_POLE 1 1 1 A 8 A Repeat-mediated 21f4d1c8-329e-11e6-bc66-17b4cc638e3d 8_40970127_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 40970127 CA C 660 PASS - Del - 1 9 MSH6 child 8_40970127_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 21fad636-328f-11e6-9d97-efe56f39e758 4_36783026_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 36783026 CA C 540 PASS - Del - 1 6 MSH6 child 4_36783026_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 21fc1254-3257-11e6-b4d0-327a7872c165 11_117909321_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 117909321 T TA 840 PASS - Ins - 1 4 MSH6 child 11_117909321_TTA_MSH6 1 1 - - - - Ins 22041fb2-328e-11e6-bfa2-581f0e01a414 7_86292929_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 86292929 CT C 720 PASS GRM3 Del intronic 1 8 MSH6 child 7_86292929_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2208c246-328f-11e6-8f31-bfe16f39e758 9_102912075_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 102912075 GA G 360 PASS INVS Del intronic 1 8 MSH6 child 9_102912075_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 220dcfa0-328c-11e6-8952-77c36f39e758 10_33374665_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 33374665 GA G 660 PASS RP11-462L8.1 Del downstream 1 9 MSH6 child 10_33374665_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 2216fffe-3295-11e6-b963-13387a852e0e 3_159995586_TAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 3 159995586 TA T 480 PASS IFT80 Del intronic 1 8 CHK2 child 3_159995586_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 221d3b70-3273-11e6-a5d0-4fd14a47a305 2_63811086_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 63811086 GA G 480 PASS WDPCP Del intronic 1 9 MSH6 child 2_63811086_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 22253334-328c-11e6-bd84-429305ad5bc4 1_75599860_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 75599860 AT A 480 PASS LHX8 Del intronic 1 9 MSH6 child 1_75599860_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 22263c3a-329a-11e6-bda6-065325c9da85 13_35126833_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 35126833 TA T 480 PASS RP11-16D22.2 Del intronic 1 6 MSH6 child 13_35126833_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 222abbe2-3287-11e6-a284-4b89a2c71c31 4_52801237_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 52801237 CT C 300 PASS - Del - 1 9 MSH6 child 4_52801237_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2230e1be-3293-11e6-a1c8-fb347a852e0e 7_37012069_TCACAGTTCTGGAGGCTGGAAGTCTGCATCAGCAGGGTCGGTTCCTCTTGAAGGCTGTAAGGGGCTCTGTTCCAGGCCTTTCTCCTTGGCCTGTAGATGACTGTCTCCTCCCTGTGTCTCTTTACATCATCTTCCTTCTATGCATGTCTGTCTCTGCATCCAGTGTTCCCTTTTTATAAGGACACTAGTCACACTGGATTAGGGTCCATCTGATGTCCTCATTTTAACTTGATTACCTCTGTAAGACCCTATCTCCAAATAAGGGAACTTTCGGAGGTTAGGACTTCAATCTATATATCTATATAACTATATCTATATCTATAGTTTTTTGAAACAGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTACAATGGCGCGATCTCGGCTCACTGCAACTTCTACCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTACTGACCTCAGGTGATCTACCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCATGCCAGGCCAGGACTCTGGTATATATTTTTGAGGAGGACATATTTCAAACTATAACATGCATCAAGGTTTCTAAGCAGGCTTAAATGTCCACTTGAGTGGTACAACCCAATCCGTGAAGCCAGAGCATGGTGCAGGCTCCCATCCATCCTACAGGTACATCAGGATAAAGGCCAGCCTTCTGCCTCCTGGAGCGAGACTGCTGTTCTTTTTCTCCCCTAGCTGGCTAATCAGTAGTGCCAGTACAGGGAAAATTTTTCTGATCTATATAACTGAGGCCTGACATTTAGGAGACTGTGTTTTAACAATGTCCCATTAGGGCCCTATGTCTCTATCAGCTACCATCTAAGTTGCAGAGCAATAGACTGAGTGAGGGCTGAGATGCCCACATAGGCCTCAATTTGCTCCATGAGAAGGAAACAAGTTCCAGTCCATCATTAGGATGGTCTTGAACTATGGAAGCT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 7 37012069 TCACAGTTCTGGAGGCTGGAAGTCTGCATCAGCAGGGTCGGTTCCTCTTGAAGGCTGTAAGGGGCTCTGTTCCAGGCCTTTCTCCTTGGCCTGTAGATGACTGTCTCCTCCCTGTGTCTCTTTACATCATCTTCCTTCTATGCATGTCTGTCTCTGCATCCAGTGTTCCCTTTTTATAAGGACACTAGTCACACTGGATTAGGGTCCATCTGATGTCCTCATTTTAACTTGATTACCTCTGTAAGACCCTATCTCCAAATAAGGGAACTTTCGGAGGTTAGGACTTCAATCTATATATCTATATAACTATATCTATATCTATAGTTTTTTGAAACAGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTACAATGGCGCGATCTCGGCTCACTGCAACTTCTACCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTACTGACCTCAGGTGATCTACCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCATGCCAGGCCAGGACTCTGGTATATATTTTTGAGGAGGACATATTTCAAACTATAACATGCATCAAGGTTTCTAAGCAGGCTTAAATGTCCACTTGAGTGGTACAACCCAATCCGTGAAGCCAGAGCATGGTGCAGGCTCCCATCCATCCTACAGGTACATCAGGATAAAGGCCAGCCTTCTGCCTCCTGGAGCGAGACTGCTGTTCTTTTTCTCCCCTAGCTGGCTAATCAGTAGTGCCAGTACAGGGAAAATTTTTCTGATCTATATAACTGAGGCCTGACATTTAGGAGACTGTGTTTTAACAATGTCCCATTAGGGCCCTATGTCTCTATCAGCTACCATCTAAGTTGCAGAGCAATAGACTGAGTGAGGGCTGAGATGCCCACATAGGCCTCAATTTGCTCCATGAGAAGGAAACAAGTTCCAGTCCATCATTAGGATGGTCTTGAACTATGGAAGC T 471 PASS ELMO1 Del intronic 1069 1 CHK2 child 7_37012069_TCACAGTTCTGGAGGCTGGAAGTCTGCATCAGCAGGGTCGGTTCCTCTTGAAGGCTGTAAGGGGCTCTGTTCCAGGCCTTTCTCCTTGGCCTGTAGATGACTGTCTCCTCCCTGTGTCTCTTTACATCATCTTCCTTCTATGCATGTCTGTCTCTGCATCCAGTGTTCCCTTTTTATAAGGACACTAGTCACACTGGATTAGGGTCCATCTGATGTCCTCATTTTAACTTGATTACCTCTGTAAGACCCTATCTCCAAATAAGGGAACTTTCGGAGGTTAGGACTTCAATCTATATATCTATATAACTATATCTATATCTATAGTTTTTTGAAACAGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTACAATGGCGCGATCTCGGCTCACTGCAACTTCTACCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTACTGACCTCAGGTGATCTACCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCATGCCAGGCCAGGACTCTGGTATATATTTTTGAGGAGGACATATTTCAAACTATAACATGCATCAAGGTTTCTAAGCAGGCTTAAATGTCCACTTGAGTGGTACAACCCAATCCGTGAAGCCAGAGCATGGTGCAGGCTCCCATCCATCCTACAGGTACATCAGGATAAAGGCCAGCCTTCTGCCTCCTGGAGCGAGACTGCTGTTCTTTTTCTCCCCTAGCTGGCTAATCAGTAGTGCCAGTACAGGGAAAATTTTTCTGATCTATATAACTGAGGCCTGACATTTAGGAGACTGTGTTTTAACAATGTCCCATTAGGGCCCTATGTCTCTATCAGCTACCATCTAAGTTGCAGAGCAATAGACTGAGTGAGGGCTGAGATGCCCACATAGGCCTCAATTTGCTCCATGAGAAGGAAACAAGTTCCAGTCCATCATTAGGATGGTCTTGAACTATGGAAGCT_CHK2 1069 >=10 4 CACA 0 - Microhomology-mediated 2236c2be-3324-11e6-9eb4-dd99cf737e61 8_17232149_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 17232149 TA T 596 PASS MTMR7 Del intronic 1 4 EXO1 child 8_17232149_TAT_EXO1 1 1 1 A 3 A Repeat-mediated 223a0abc-3349-11e6-a9cc-a0a270cce0de 2_211965542_CTTGAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 211965542 CTTGA C 600 PASS - Del - 4 1 FANCC child 2_211965542_CTTGAC_FANCC 4 4 2 TT 0 - Microhomology-mediated 2240fb04-328d-11e6-b6a6-1f1e0e01a414 4_41227735_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 41227735 TA T 654 PASS - Del - 1 5 MSH6 child 4_41227735_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 22436704-3323-11e6-9802-cf66694da5d2 12_105126681_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 12 105126681 AT A 660 PASS CHST11 Del intronic 1 8 EXO1 child 12_105126681_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 224b4bea-3274-11e6-8607-751ad9b4fa2c 22_30914196_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 30914196 AG A 254 PASS SEC14L6 Del downstream 1 5 MSH6 child 22_30914196_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 22681d3e-326e-11e6-9f48-94df41c4520d 12_118849296_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 118849296 CT C 300 PASS SUDS3 Del intronic 1 9 MSH6 child 12_118849296_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 226c4048-328d-11e6-8770-3e160e01a414 9_113734994_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 113734994 AG A 360 PASS LPAR1 Del intronic 1 5 MSH6 child 9_113734994_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 2271bbea-3288-11e6-8404-8e1fbce6aa09 8_92350305_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 92350305 TA T 480 PASS SLC26A7 Del intronic 1 5 MSH6 child 8_92350305_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 227815ea-3278-11e6-a5d7-eb6be7d0bdd7 6_116744751_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 6 116744751 GT G 480 PASS DSE Del intronic 1 7 EXO1 child 6_116744751_GTG_EXO1 1 1 1 T 6 T Repeat-mediated 227eacb6-3287-11e6-9e1f-6479a178171f 16_86201051_CTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 16 86201051 CT C 420 PASS - Del - 1 7 FANCC child 16_86201051_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 2287337e-3276-11e6-ab69-1c1607e9a829 9_119378153_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 119378153 TA T 664 PASS ASTN2 Del intronic 1 8 MSH6 child 9_119378153_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 22878240-328d-11e6-bd84-429305ad5bc4 1_215684980_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 215684980 GA G 660 PASS - Del - 1 7 MSH6 child 1_215684980_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2299e750-3274-11e6-a5d0-4fd14a47a305 2_154241263_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 154241263 AT A 300 PASS - Del - 1 5 MSH6 child 2_154241263_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 229a98b8-327d-11e6-8723-889be7d0bdd7 2_102116572_CAAGTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 102116572 CAAGT C 600 PASS - Del - 4 2 NUDT1 child 2_102116572_CAAGTC_NUDT1 4 4 4 AAGT 1 AAGT Repeat-mediated 229c4700-328f-11e6-8e48-791e0e01a414 8_102393319_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 102393319 AT A 600 PASS - Del - 1 6 MSH6 child 8_102393319_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 22b0df18-3284-11e6-b293-6ca635cec73b 11_37160954_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 11 37160954 GA G 420 PASS - Del - 1 9 POLE child 11_37160954_GAG_POLE 1 1 1 A 8 A Repeat-mediated 22b67a50-328d-11e6-8256-94c36f39e758 17_80905077_GCG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 80905077 GC G 600 PASS TBCD Del downstream 1 7 MSH6 child 17_80905077_GCG_MSH6 1 1 1 C 6 C Repeat-mediated 22b9de9c-329d-11e6-a5cf-e5abcc638e3d 9_74698953_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 74698953 CA C 540 PASS - Del - 1 7 MSH6 child 9_74698953_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 22cf2320-328d-11e6-8f4b-33ab4430f757 13_73166479_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 13 73166479 CT C 540 PASS - Del - 1 7 POLE child 13_73166479_CTC_POLE 1 1 1 T 6 T Repeat-mediated 22d22338-326d-11e6-92dd-fda8977b3f23 10_51787968_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 51787968 GA G 300 PASS - Del - 1 1 MSH6 child 10_51787968_GAG_MSH6 1 1 0 - 0 A None 22d3b2b8-3275-11e6-adf7-9df5ed3c4f5d 21_15459315_AGA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 21 15459315 AG A 360 PASS - Del - 1 1 NEIL1 child 21_15459315_AGA_NEIL1 1 1 0 - 0 G None 22d44c8a-3277-11e6-9e0f-7959cab49462 7_109863594_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 109863594 GT G 720 PASS - Del - 1 9 MSH6 child 7_109863594_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 22d9986a-3278-11e6-92d2-c259c225ee11 3_131695602_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 131695602 TA T 480 PASS CPNE4 Del intronic 1 8 MSH6 child 3_131695602_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 22e323fe-3277-11e6-a71d-236235cec73b X_87645871_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 87645871 GA G 360 PASS - Del - 1 8 MSH6 child X_87645871_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 22f1800a-328d-11e6-8770-3e160e01a414 9_113827190_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 113827190 AT A 300 PASS - Del - 1 8 MSH6 child 9_113827190_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 22f788b2-3277-11e6-a5d7-eb6be7d0bdd7 6_14731368_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 6 14731368 CT C 660 PASS - Del - 1 1 EXO1 child 6_14731368_CTC_EXO1 1 1 0 - 0 T None 22fa724e-3276-11e6-83cd-a472a178171f 4_78050137_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 78050137 CT C 780 PASS - Del - 1 9 MSH6 child 4_78050137_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 22fed136-328a-11e6-9c89-8d090e01a414 1_43128550_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 43128550 CT C 540 PASS PPIH Del intronic 1 7 MSH6 child 1_43128550_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 22ffbf98-3293-11e6-a157-907af530df36 1_89306250_TGT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 1 89306250 TG T 480 PASS PKN2 Del downstream 1 8 POLB child 1_89306250_TGT_POLB 1 1 1 G 7 G Repeat-mediated 2309a97c-328e-11e6-b9c4-751d0e01a414 5_126738596_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 126738596 TA T 360 PASS MEGF10 Del intronic 1 8 MSH6 child 5_126738596_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 23206572-3257-11e6-885f-d1947872c165 4_68855560_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 68855560 CT C 360 PASS - Del - 1 8 MSH6 child 4_68855560_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 232e9248-3322-11e6-8db2-39e579852e0e 2_165299707_AGATTA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 2 165299707 AGATT A 600 PASS - Del - 4 2 POLE child 2_165299707_AGATTA_POLE 4 4 4 GATT 1 GATT Repeat-mediated 233803f6-326d-11e6-9f48-94df41c4520d 12_45672332_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 45672332 CT C 300 PASS ANO6 Del intronic 1 8 MSH6 child 12_45672332_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2341ba3c-328f-11e6-9432-c0e56f39e758 5_37474173_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 37474173 GT G 540 PASS WDR70 Del intronic 1 7 MSH6 child 5_37474173_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 2347c1e2-326d-11e6-92dd-fda8977b3f23 10_52046223_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 52046223 CA C 360 PASS - Del - 1 7 MSH6 child 10_52046223_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 234a71b0-3274-11e6-90fa-056466a58581 4_31898338_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 31898338 AT A 780 PASS - Del - 1 8 FANCC child 4_31898338_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 234f4a50-3288-11e6-b024-69a4b0dab373 20_46686553_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 20 46686553 TA T 540 PASS - Del - 1 9 POLE parent 20_46686553_TAT_POLE 1 1 1 A 8 A Repeat-mediated 23510e34-3275-11e6-a5d0-4fd14a47a305 2_235035662_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 235035662 TA T 420 PASS - Del - 1 8 MSH6 child 2_235035662_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 23542b7e-3323-11e6-9b94-35fee9d19ece 9_19222515_TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACCGGTGCGTGCCATCACGCCCAGCTAATTTTTATATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGAAGGTCTCAATCTCTTGACCTTGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCAAAACGAATGCTAGTATTTTTAAAATTTAATCTTTTTTTGTTGTTGTTTTTGAGACAAAATCTTGCGCTGTCACCCAGGCTTGAGTACAGTGGCAAGATCTCAGCTTACTGCAGCCGTGACCTCTTAGACTCAAGTGATCT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 9 19222515 TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACCGGTGCGTGCCATCACGCCCAGCTAATTTTTATATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGAAGGTCTCAATCTCTTGACCTTGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCAAAACGAATGCTAGTATTTTTAAAATTTAATCTTTTTTTGTTGTTGTTTTTGAGACAAAATCTTGCGCTGTCACCCAGGCTTGAGTACAGTGGCAAGATCTCAGCTTACTGCAGCCGTGACCTCTTAGACTCAAGTGATC T 262 PASS - Del - 331 1 POLE child 9_19222515_TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACCGGTGCGTGCCATCACGCCCAGCTAATTTTTATATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGAAGGTCTCAATCTCTTGACCTTGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCAAAACGAATGCTAGTATTTTTAAAATTTAATCTTTTTTTGTTGTTGTTTTTGAGACAAAATCTTGCGCTGTCACCCAGGCTTGAGTACAGTGGCAAGATCTCAGCTTACTGCAGCCGTGACCTCTTAGACTCAAGTGATCT_POLE 331 >=10 19 CTCCTGCCTCAGCCTCCCG 0 - Microhomology-mediated 2355fc2e-327e-11e6-8cd6-250199816cf3 5_101780310_ATA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 5 101780310 AT A 660 PASS SLCO6A1 Del intronic 1 9 POLM child 5_101780310_ATA_POLM 1 1 1 T 8 T Repeat-mediated 235704cc-3326-11e6-9915-920b694da5d2 22_35025749_GGTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 22 35025749 GGT G 600 PASS - Del - 2 7 EXO1 child 22_35025749_GGTG_EXO1 2 2 2 GT 6 GT Repeat-mediated 235ebae0-328c-11e6-88c1-95c36f39e758 14_56379916_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 56379916 AC A 600 PASS RP11-1012E15.1 Del upstream 1 4 MSH6 child 14_56379916_ACA_MSH6 1 1 1 C 3 C Repeat-mediated 23639a2a-3290-11e6-b52f-4eeb6f39e758 22_41551623_GTCACG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 41551623 GTCAC G 780 PASS EP300 Del intronic 4 2 MSH6 child 22_41551623_GTCACG_MSH6 4 4 4 TCAC 1 TCAC Repeat-mediated 23653518-3283-11e6-89eb-f2eacdacbbbf 4_64344447_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 64344447 CA C 480 PASS RP11-12K22.1 Del intronic 1 9 EXO1 child 4_64344447_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 23670d10-328e-11e6-919e-92c36f39e758 2_177984339_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 177984339 AT A 420 PASS AC079305.11 Del intronic 1 9 MSH6 child 2_177984339_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 236dd914-3285-11e6-870e-6af1bbe6aa09 19_46876074_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 46876074 TA T 600 PASS PPP5C Del intronic 1 9 MSH6 child 19_46876074_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2376338a-3275-11e6-b332-88ba7d6a9fc7 15_26367244_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 26367244 A AT 540 PASS LINC00929 Ins intronic 1 7 MSH6 child 15_26367244_AAT_MSH6 1 1 - - - - Ins 237f2e10-3278-11e6-8629-39703cfdbd24 4_125086049_TAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 4 125086049 TA T 540 PASS CTD-2325B11.1 Del intronic 1 5 CHK2 child 4_125086049_TAT_CHK2 1 1 1 A 4 A Repeat-mediated 237f4fbe-328a-11e6-b805-77090e01a414 2_57752027_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 57752027 CT C 720 PASS - Del - 1 8 MSH6 child 2_57752027_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 237fd25a-3289-11e6-a8ac-a28ea2c71c31 3_150600177_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 150600177 CT C 720 PASS FAM188B2 Del intronic 1 8 MSH6 child 3_150600177_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 238a07fe-3273-11e6-8418-1c5942c4520d 3_98812666_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 98812666 T TA 420 PASS - Ins - 1 8 MSH6 child 3_98812666_TTA_MSH6 1 1 - - - - Ins 23927052-3272-11e6-949c-85d3ed3c4f5d 19_53673565_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 19 53673565 GA G 450 PASS ZNF665 Del intronic 1 6 MSH6 parent 19_53673565_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 23953678-326f-11e6-9f48-94df41c4520d 12_62542007_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 62542007 C CA 420 PASS FAM19A2 Ins intronic 1 4 MSH6 child 12_62542007_CCA_MSH6 1 1 - - - - Ins 2396f84e-328a-11e6-9453-299c20e7b7a8 2_238489398_AGA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 2 238489398 AG A 300 PASS RAB17 Del intronic 1 8 POLE child 2_238489398_AGA_POLE 1 1 1 G 7 G Repeat-mediated 2397848a-328f-11e6-ad16-6b56f0f7a29c 10_74884644_AAATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 10 74884644 AAAT A 360 PASS NUDT13 Del intronic 3 3 NEIL1 child 10_74884644_AAATA_NEIL1 3 3 3 AAT 2 AAT Repeat-mediated 23a58b52-3276-11e6-8fe4-214938e8a824 20_31499924_GACG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 20 31499924 GAC G 720 PASS - Del - 2 2 POLM child 20_31499924_GACG_POLM 2 2 2 AC 1 AC Repeat-mediated 23a7e726-3280-11e6-92a3-70670cfb5812 16_61022201_GAG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 16 61022201 GA G 300 PASS - Del - 1 7 POLM child 16_61022201_GAG_POLM 1 1 1 A 6 A Repeat-mediated 23ada8be-328f-11e6-9d24-ade56f39e758 7_37463262_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 37463262 AT A 408 PASS ELMO1 Del intronic 1 8 MSH6 child 7_37463262_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 23af92d2-328a-11e6-b74f-549ba2c71c31 20_32988344_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 32988344 TA T 780 PASS ITCH Del intronic 1 8 MSH6 child 20_32988344_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 23b46b44-329a-11e6-bda6-065325c9da85 13_35693718_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 35693718 AT A 420 PASS NBEA Del intronic 1 9 MSH6 child 13_35693718_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 23b65a20-3282-11e6-9a85-856e0cfb5812 7_64116774_AGCCCAGCACACAGGTGAGATTGTGTTTCTCATATGCACACACCACCAACCATAAGGATTGTCACCCTCAAACATGGACAGATCCCACTAGTGAGGTCCTGAATCTTACACGGAGACATAGTTCACAATTGGAATTGTGATTGTCATTTGTTAACATCTGGCCACAGTTTGAATGGTGACTCACTTCTAAACTTACCACATGGGCAGGTGATGACTGTATTATTTTCACACAGCCAATTGAAAAGATGCTGACTCTCATACCTGGGCCTAGGATCACAGCTACAATCATTGGTCTGTACCAGCATGAAGGTATCAGAGCATATTGTGACTCACGTGTATATTATATAAAGCCCTCGAGTGGTATAGAGAGTGTCCTAACAAGA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 7 64116774 AGCCCAGCACACAGGTGAGATTGTGTTTCTCATATGCACACACCACCAACCATAAGGATTGTCACCCTCAAACATGGACAGATCCCACTAGTGAGGTCCTGAATCTTACACGGAGACATAGTTCACAATTGGAATTGTGATTGTCATTTGTTAACATCTGGCCACAGTTTGAATGGTGACTCACTTCTAAACTTACCACATGGGCAGGTGATGACTGTATTATTTTCACACAGCCAATTGAAAAGATGCTGACTCTCATACCTGGGCCTAGGATCACAGCTACAATCATTGGTCTGTACCAGCATGAAGGTATCAGAGCATATTGTGACTCACGTGTATATTATATAAAGCCCTCGAGTGGTATAGAGAGTGTCCTAACAAG A 300 PASS - Del - 381 1 POLM child 7_64116774_AGCCCAGCACACAGGTGAGATTGTGTTTCTCATATGCACACACCACCAACCATAAGGATTGTCACCCTCAAACATGGACAGATCCCACTAGTGAGGTCCTGAATCTTACACGGAGACATAGTTCACAATTGGAATTGTGATTGTCATTTGTTAACATCTGGCCACAGTTTGAATGGTGACTCACTTCTAAACTTACCACATGGGCAGGTGATGACTGTATTATTTTCACACAGCCAATTGAAAAGATGCTGACTCTCATACCTGGGCCTAGGATCACAGCTACAATCATTGGTCTGTACCAGCATGAAGGTATCAGAGCATATTGTGACTCACGTGTATATTATATAAAGCCCTCGAGTGGTATAGAGAGTGTCCTAACAAGA_POLM 381 >=10 24 GCCCAGCACACAGGTGAGATTGTG 0 - Microhomology-mediated 23bb2d94-3254-11e6-bc65-c9667872c165 13_62513374_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 62513374 AT A 480 PASS - Del - 1 8 MSH6 child 13_62513374_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 23bb564c-3291-11e6-b55e-be65694da5d2 X_33158001_AAT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA X 33158001 A AT 360 PASS DMD Ins intronic 1 1 POLM child X_33158001_AAT_POLM 1 1 - - - - Ins 23c0a21a-328b-11e6-b805-77090e01a414 2_125088418_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 125088418 TA T 300 PASS CNTNAP5 Del intronic 1 6 MSH6 child 2_125088418_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 23cfba7a-328b-11e6-8459-82090e01a414 12_110334554_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 110334554 GA G 480 PASS TCHP Del upstream 1 8 MSH6 child 12_110334554_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 23d94fb4-3325-11e6-8527-5503694da5d2 X_69461437_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA X 69461437 CT C 540 PASS AWAT1 Del downstream 1 9 EXO1 child X_69461437_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 23e2e2be-329d-11e6-bc2c-2a5e25c9da85 4_15765840_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 15765840 TA T 660 PASS - Del - 1 6 MSH6 child 4_15765840_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 23e3437e-328b-11e6-ba48-afb3cc638e3d 2_162030754_ATA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 2 162030754 AT A 360 PASS TANK Del intronic 1 8 NUDT1 child 2_162030754_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 23f06900-329a-11e6-bda6-065325c9da85 13_35904300_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 35904300 GT G 600 PASS NBEA Del intronic 1 8 MSH6 child 13_35904300_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 23f1f6f8-3290-11e6-8612-7b73fc77b11e 5_81010061_CTC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 5 81010061 CT C 600 PASS SSBP2 Del intronic 1 6 POLE child 5_81010061_CTC_POLE 1 1 1 T 5 T Repeat-mediated 24031444-3293-11e6-baeb-4e0b987b3f23 20_4975810_GAG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 20 4975810 GA G 360 PASS SLC23A2 Del intronic 1 6 NEIL1 child 20_4975810_GAG_NEIL1 1 1 1 A 5 A Repeat-mediated 24057d82-328a-11e6-8f9e-1f8aa178171f 4_105232854_GAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 4 105232854 GA G 360 PASS RP11-729M20.1 Del intronic 1 9 FANCC child 4_105232854_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 240af91a-328a-11e6-8459-82090e01a414 12_52588158_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 52588158 CA C 420 PASS KRT80 Del upstream 1 6 MSH6 child 12_52588158_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 24113c40-3270-11e6-8418-1c5942c4520d 3_17524812_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 17524812 TA T 420 PASS TBC1D5 Del intronic 1 6 MSH6 child 3_17524812_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 241e46e8-3292-11e6-a366-d0257a852e0e 2_189407620_ATTCA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 2 189407620 ATTC A 300 PASS GULP1 Del intronic 3 2 CHK2 child 2_189407620_ATTCA_CHK2 3 3 3 TTC 1 TTC Repeat-mediated 2421ea5a-328d-11e6-b4fe-93c36f39e758 12_97338269_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 97338269 TC T 360 PASS NEDD1 Del intronic 1 1 MSH6 child 12_97338269_TCT_MSH6 1 1 0 - 0 C None 243352e8-3285-11e6-870e-6af1bbe6aa09 19_46987705_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 46987705 CA C 480 PASS PPP5D1 Del intronic 1 8 MSH6 child 19_46987705_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 2434b830-326d-11e6-9f48-94df41c4520d 12_46059623_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 46059623 TA T 420 PASS - Del - 1 8 MSH6 child 12_46059623_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2437bdcc-3291-11e6-9432-c0e56f39e758 5_179970752_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 179970752 CT C 300 PASS CNOT6 Del intronic 1 6 MSH6 child 5_179970752_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 243931ec-3283-11e6-9607-56b01ac527ab 4_55956320_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 55956320 CA C 540 PASS KDR Del intronic 1 9 FANCC child 4_55956320_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 243cdb12-3328-11e6-868e-d16670cce0de 6_82896180_GTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 82896180 GT G 420 PASS IBTK Del intronic 1 9 EXO1 child 6_82896180_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 243de93c-3281-11e6-ae55-ef338e4678dd 14_71685252_CAGC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 14 71685252 CAG C 480 PASS RP6-91H8.5 Del upstream 2 1 EXO1 child 14_71685252_CAGC_EXO1 2 2 0 - 0 - None 2440ea08-328e-11e6-b9c4-751d0e01a414 5_127201861_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 127201861 GA G 480 PASS CTC-228N24.1 Del intronic 1 8 MSH6 child 5_127201861_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 24413e1c-3294-11e6-b574-0154e7d0bdd7 20_40719902_TGT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 20 40719902 TG T 480 PASS PTPRT Del intronic 1 6 FANCC child 20_40719902_TGT_FANCC 1 1 1 G 5 G Repeat-mediated 2442e586-3254-11e6-89d3-d29498816cf3 2_66550381_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 66550381 TA T 540 PASS AC092669.6 Del upstream 1 8 MSH6 child 2_66550381_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 24459dd4-3273-11e6-a5d0-4fd14a47a305 2_64537468_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 64537468 GA G 480 PASS - Del - 1 7 MSH6 child 2_64537468_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2446df56-329a-11e6-8069-175325c9da85 12_15802555_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 15802555 GA G 660 PASS EPS8 Del intronic 1 9 MSH6 child 12_15802555_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 2447b3e4-326e-11e6-9fba-41ebd8b4fa2c 11_62308134_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 62308134 AT A 300 PASS AHNAK Del intronic 1 8 MSH6 child 11_62308134_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 244d01d4-3285-11e6-9e78-7d3e51c54cdd 2_85352327_CAGAAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 85352327 CAGAA C 780 PASS - Del - 4 1 EXO1 child 2_85352327_CAGAAC_EXO1 4 4 3 AGA 0 - Microhomology-mediated 244e9472-3258-11e6-885f-d1947872c165 4_141007674_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 141007674 GA G 660 PASS MAML3 Del intronic 1 9 MSH6 child 4_141007674_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 245997c8-3271-11e6-9309-bdc34a47a305 8_95086056_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 95086056 CA C 300 PASS - Del - 1 8 MSH6 child 8_95086056_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 245bff50-3324-11e6-8c6b-3c0f42c4520d 4_71483398_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 4 71483398 GA G 360 PASS - Del - 1 6 EXO1 child 4_71483398_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 2460ae62-328c-11e6-9c89-8d090e01a414 1_169265394_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 169265394 CA C 360 PASS NME7 Del intronic 1 9 MSH6 child 1_169265394_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2479094a-3321-11e6-8c1c-2deb137bb207 15_43063516_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 15 43063516 TA T 360 PASS TTBK2 Del intronic 1 9 EXO1 child 15_43063516_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 24817ea4-3254-11e6-b4d0-327a7872c165 11_40729394_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 40729394 CT C 627 PASS LRRC4C Del intronic 1 8 MSH6 child 11_40729394_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2483ea96-328a-11e6-8eee-76090e01a414 10_60530095_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 60530095 AT A 660 PASS BICC1 Del intronic 1 6 MSH6 child 10_60530095_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 2487a4ec-3285-11e6-ac39-4c9efc1f1540 20_55362749_CCCTGCCTC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 20 55362749 CCCTGCCT C 420 PASS RNU6-929P Del upstream 7 2 FANCC child 20_55362749_CCCTGCCTC_FANCC 7 7 7 CCTGCCT 1 CCTGCCT Repeat-mediated 248a8d02-3270-11e6-a576-d8f3eab8d062 17_70893164_GCTGGGCGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACAAACAGAAAAACAGAAAAGTCCTCAAGGGTGAGTGAGAGCACTCCAACAACAGAAATTTGGAAAGGACCAGGAAGCATGGAAACCAATTTGGGAGCTCCTGTAGTAATTCATGGCAGAGATGATGAAGGCCTGAACTGAGAGGACCCCAGTGGGGACAGACAGTGACCTGCTGGACATCGGAGGTGGGAAAAGGAAGCCATCTGCACTGTGCTGTCTAATATGAGAACCACAAGCCACATGCAGTCATCTAATATAACG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 17 70893164 GCTGGGCGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACAAACAGAAAAACAGAAAAGTCCTCAAGGGTGAGTGAGAGCACTCCAACAACAGAAATTTGGAAAGGACCAGGAAGCATGGAAACCAATTTGGGAGCTCCTGTAGTAATTCATGGCAGAGATGATGAAGGCCTGAACTGAGAGGACCCCAGTGGGGACAGACAGTGACCTGCTGGACATCGGAGGTGGGAAAAGGAAGCCATCTGCACTGTGCTGTCTAATATGAGAACCACAAGCCACATGCAGTCATCTAATATAAC G 540 PASS SLC39A11 Del intronic 305 1 NUDT1 child 17_70893164_GCTGGGCGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACAAACAGAAAAACAGAAAAGTCCTCAAGGGTGAGTGAGAGCACTCCAACAACAGAAATTTGGAAAGGACCAGGAAGCATGGAAACCAATTTGGGAGCTCCTGTAGTAATTCATGGCAGAGATGATGAAGGCCTGAACTGAGAGGACCCCAGTGGGGACAGACAGTGACCTGCTGGACATCGGAGGTGGGAAAAGGAAGCCATCTGCACTGTGCTGTCTAATATGAGAACCACAAGCCACATGCAGTCATCTAATATAACG_NUDT1 305 >=10 2 CT 0 - Microhomology-mediated 248b8b1a-329f-11e6-94ca-0aaecc638e3d X_97124679_ATCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 97124679 ATC A 720 PASS - Del - 2 5 MSH6 child X_97124679_ATCA_MSH6 2 2 2 TC 4 TC Repeat-mediated 248be114-329f-11e6-b696-dd6225c9da85 5_134333602_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 134333602 CT C 764 PASS CATSPER3 Del intronic 1 8 MSH6 child 5_134333602_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 249698aa-3256-11e6-bf41-357a7872c165 10_35815420_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 35815420 G GA 360 PASS CCNY Ins intronic 1 7 MSH6 child 10_35815420_GGA_MSH6 1 1 - - - - Ins 24a83c64-3287-11e6-a284-4b89a2c71c31 4_53976090_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 53976090 CA C 540 PASS SCFD2 Del intronic 1 8 MSH6 child 4_53976090_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 24b322d8-3290-11e6-ae53-96c36f39e758 15_88129444_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 88129444 T TA 540 PASS RP11-648K4.2 Ins intronic 1 7 MSH6 child 15_88129444_TTA_MSH6 1 1 - - - - Ins 24b6d05c-3292-11e6-8d18-13cc0d01a414 20_32429535_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 32429535 TC T 480 PASS CHMP4B Del intronic 1 7 MSH6 child 20_32429535_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 24ca274e-3277-11e6-bc24-bc6e3cfdbd24 6_65460370_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 65460370 AT A 420 PASS EYS Del intronic 1 9 MSH6 parent 6_65460370_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 24ceab02-3290-11e6-ae53-96c36f39e758 15_88143165_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 88143165 A AT 300 PASS RP11-648K4.2 Ins intronic 1 6 MSH6 child 15_88143165_AAT_MSH6 1 1 - - - - Ins 24d3f450-328a-11e6-a19d-3c763adbad45 4_136895554_CAC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 136895554 CA C 540 PASS - Del - 1 9 NUDT1 parent 4_136895554_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated 24dedf7a-329c-11e6-9e74-4e638cd8cd69 20_43006874_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 20 43006874 AT A 540 PASS HNF4A Del intronic 1 6 CHK2 child 20_43006874_ATA_CHK2 1 1 1 T 5 T Repeat-mediated 24dff572-326f-11e6-b5b8-e0c24a47a305 X_10198013_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 10198013 AC A 472 PASS CLCN4 Del intronic 1 5 MSH6 child X_10198013_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 24eb5706-3287-11e6-a284-4b89a2c71c31 4_54075821_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 54075821 GA G 600 PASS SCFD2 Del intronic 1 5 MSH6 child 4_54075821_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 24effb30-328c-11e6-919e-92c36f39e758 2_42309586_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 42309586 AT A 600 PASS - Del - 1 7 MSH6 child 2_42309586_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 24f8fd6c-326d-11e6-b9f4-5d1d694da5d2 14_56983598_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 56983598 GT G 420 PASS RP11-624J12.1 Del intronic 1 6 MSH6 child 14_56983598_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 25041570-328c-11e6-8770-3e160e01a414 9_33716450_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 33716450 CA C 480 PASS RP11-384P7.5 Del upstream 1 7 MSH6 child 9_33716450_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2505efdc-326c-11e6-b01f-1b4ba78019ab 17_6010489_CTCTC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 17 6010489 CTCT C 480 PASS WSCD1 Del intronic 3 2 POLM parent 17_6010489_CTCTC_POLM 3 3 3 TCT 1 TCT Repeat-mediated 2512e93e-3277-11e6-b332-88ba7d6a9fc7 15_88510205_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 88510205 C CA 720 PASS NTRK3 Ins intronic 1 4 MSH6 child 15_88510205_CCA_MSH6 1 1 - - - - Ins 2523e430-3323-11e6-a947-acb5cde16804 15_44043421_AAT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 15 44043421 A AT 600 PASS PDIA3 Ins intronic 1 9 POLE child 15_44043421_AAT_POLE 1 1 - - - - Ins 25244014-3275-11e6-b8ae-92c57872c165 14_95500742_CCCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 95500742 C CCT 360 PASS - Ins - 2 6 MSH6 child 14_95500742_CCCT_MSH6 2 2 - - - - Ins 25253ab8-328a-11e6-8eee-76090e01a414 10_60770252_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 60770252 CT C 480 PASS - Del - 1 9 MSH6 child 10_60770252_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 25283d42-3273-11e6-83ef-69fb06e9a829 18_53701861_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 53701861 TA T 600 PASS CTD-2008L17.2 Del intronic 1 8 MSH6 child 18_53701861_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2528a94e-328c-11e6-8952-77c36f39e758 10_34217123_GAGAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 34217123 GAGA G 720 PASS - Del - 3 2 MSH6 child 10_34217123_GAGAG_MSH6 3 3 3 AGA 1 AGA Repeat-mediated 252dde0c-329e-11e6-8c2e-3f6625c9da85 22_17023868_ATTATTAGGCTTTCTTGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 17023868 ATTATTAGGCTTTCTTG A 399 PASS - Del - 16 1 MSH6 child 22_17023868_ATTATTAGGCTTTCTTGA_MSH6 16 >=10 3 TTA 0 - Microhomology-mediated 25314884-326d-11e6-9793-9a8fb0dab373 13_54501999_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 54501999 TC T 480 PASS - Del - 1 5 MSH6 child 13_54501999_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 25358a6e-3297-11e6-8932-5889e84777f6 20_20811985_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 20 20811985 AT A 480 PASS - Del - 1 6 CHK2 child 20_20811985_ATA_CHK2 1 1 1 T 5 T Repeat-mediated 25379516-328d-11e6-919e-92c36f39e758 2_109767280_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 109767280 TA T 600 PASS SH3RF3 Del intronic 1 9 MSH6 child 2_109767280_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 253aab1a-3289-11e6-b32c-fd87a2c71c31 5_143036113_CCAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 143036113 C CAT 300 PASS - Ins - 2 5 MSH6 child 5_143036113_CCAT_MSH6 2 2 - - - - Ins 253b9faa-3259-11e6-9d15-298312ae24cf X_29668876_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 29668876 C CA 360 PASS IL1RAPL1 Ins intronic 1 7 MSH6 child X_29668876_CCA_MSH6 1 1 - - - - Ins 2560136c-326d-11e6-9d68-ac9acab49462 15_49122296_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 49122296 CT C 300 PASS SHC4 Del intronic 1 7 MSH6 child 15_49122296_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 2561e2be-3281-11e6-9e54-079882d12d16 12_76147039_GATATG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 12 76147039 GATAT G 360 PASS RP11-114H23.1 Del intronic 4 3 FANCC child 12_76147039_GATATG_FANCC 4 4 2 AT 0 - Microhomology-mediated 25637af8-328f-11e6-bd90-978e3adbad45 12_71685887_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 12 71685887 AT A 660 PASS TSPAN8 Del intronic 1 8 NEIL1 child 12_71685887_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 25663e82-3271-11e6-881e-8d938a20d9eb 15_44065000_CATTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 15 44065000 CATT C 600 PASS PDIA3 Del 3prime_UTR_variant 3 2 CHK2 child 15_44065000_CATTC_CHK2 3 3 3 ATT 1 ATT Repeat-mediated 256c7cb0-3272-11e6-b89d-b2d6b0dab373 4_177763561_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 177763561 TA T 480 PASS - Del - 1 9 MSH6 child 4_177763561_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2574b980-3271-11e6-8418-1c5942c4520d 3_114298538_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 114298538 TA T 420 PASS ZBTB20 Del intronic 1 8 MSH6 child 3_114298538_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2576d542-32a0-11e6-bc66-17b4cc638e3d 8_85459621_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 85459621 AT A 420 PASS RALYL Del intronic 1 9 MSH6 child 8_85459621_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 25787244-328c-11e6-8256-94c36f39e758 17_30702531_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 30702531 CT C 660 PASS ZNF207 Del 3prime_UTR_variant 1 9 MSH6 child 17_30702531_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2579cf96-3295-11e6-a298-c9f1d0959d89 22_24792594_ATATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 22 24792594 ATAT A 660 PASS SPECC1L Del intronic 3 3 POLB child 22_24792594_ATATA_POLB 3 3 3 TAT 2 TAT Repeat-mediated 257da6d8-328c-11e6-88c1-95c36f39e758 14_56932120_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 56932120 CA C 720 PASS - Del - 1 6 MSH6 child 14_56932120_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 2581e2ea-3325-11e6-ada1-2957fc77b11e 5_156992278_GAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 5 156992278 GA G 720 PASS ADAM19 Del intronic 1 7 POLE child 5_156992278_GAG_POLE 1 1 1 A 6 A Repeat-mediated 2585d55c-3290-11e6-92cf-bf2a0e01a414 6_87377895_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 87377895 AT A 285 PASS - Del - 1 6 MSH6 child 6_87377895_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 25a21cba-3274-11e6-826a-adb6fa52e078 17_21882212_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 21882212 C CA 300 PASS - Ins - 1 6 MSH6 child 17_21882212_CCA_MSH6 1 1 - - - - Ins 25a40188-3283-11e6-83f8-60792aaffa45 7_2809577_GTG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 7 2809577 GT G 540 PASS GNA12 Del intronic 1 7 POLE child 7_2809577_GTG_POLE 1 1 1 T 6 T Repeat-mediated 25a50356-3258-11e6-9d15-298312ae24cf X_104557404_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 104557404 GT G 600 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_104557404_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 25a51912-3281-11e6-906b-a52236fc2f7d 15_43787122_TACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATTACTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATGGCAAAAGCCCATCTCTAAAAAATATACGAAAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAGAGCATCTCCTGAACTAGGAGGCACAGGTTGCAATGAGCCAAGATTGCAACACTGTGCTCCAGCCTGGGCAAGAGAGTGAGACCCTGTCTGAAACAACAACAATAAAAACCTAAAAACCGCCAGGCGCAGTGGCTCT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 15 43787122 TACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATTACTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATGGCAAAAGCCCATCTCTAAAAAATATACGAAAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAGAGCATCTCCTGAACTAGGAGGCACAGGTTGCAATGAGCCAAGATTGCAACACTGTGCTCCAGCCTGGGCAAGAGAGTGAGACCCTGTCTGAAACAACAACAATAAAAACCTAAAAACCGCCAGGCGCAGTGGCTC T 300 PASS TP53BP1 Del intronic 311 1 NUDT1 child 15_43787122_TACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATTACTTGAGCCCAGGAATTTGAGACCAGCCTGGGCAACATGGCAAAAGCCCATCTCTAAAAAATATACGAAAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAGAGCATCTCCTGAACTAGGAGGCACAGGTTGCAATGAGCCAAGATTGCAACACTGTGCTCCAGCCTGGGCAAGAGAGTGAGACCCTGTCTGAAACAACAACAATAAAAACCTAAAAACCGCCAGGCGCAGTGGCTCT_NUDT1 311 >=10 28 ACACCTGTAATCCCAGCACTTTGGGAGG 0 - Microhomology-mediated 25a5e814-328c-11e6-8952-77c36f39e758 10_34306641_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 34306641 CA C 300 PASS - Del - 1 9 MSH6 child 10_34306641_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 25aa6824-328e-11e6-b9c4-751d0e01a414 5_127638575_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 127638575 AT A 300 PASS FBN2 Del intronic 1 9 MSH6 child 5_127638575_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 25ae1872-329b-11e6-aca6-b39fcc638e3d 2_89427599_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 89427599 GA G 348 PASS - Del - 1 9 MSH6 child 2_89427599_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 25b007f2-3293-11e6-ba1f-69cccdacbbbf 20_2888458_GGT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 20 2888458 G GT 600 PASS PTPRA Ins intronic 1 9 POLB child 20_2888458_GGT_POLB 1 1 - - - - Ins 25b575b0-328f-11e6-b6a6-1f1e0e01a414 4_167259588_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 167259588 AT A 900 PASS - Del - 1 8 MSH6 child 4_167259588_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 25bc2966-3256-11e6-a304-347a7872c165 1_179948619_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 179948619 AT A 420 PASS CEP350 Del intronic 1 6 MSH6 child 1_179948619_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 25cd8270-327d-11e6-9cfc-ec8590e2c2e6 1_60152251_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 1 60152251 AT A 480 PASS FGGY Del intronic 1 9 NUDT1 child 1_60152251_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 25cf596c-3294-11e6-9524-ab4c0d016689 5_75403788_ATCTA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 5 75403788 ATCT A 300 PASS SV2C Del intronic 3 2 NUDT1 child 5_75403788_ATCTA_NUDT1 3 3 3 TCT 1 TCT Repeat-mediated 25d51d8a-3270-11e6-a0a7-943dc225ee11 1_80014906_CAC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 80014906 CA C 480 PASS - Del - 1 4 EXO1 parent 1_80014906_CAC_EXO1 1 1 1 A 3 A Repeat-mediated 25d91ef0-328c-11e6-88c1-95c36f39e758 14_57009661_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 57009661 AT A 420 PASS RP11-624J12.1 Del intronic 1 4 MSH6 child 14_57009661_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 25d942ce-328f-11e6-bd84-429305ad5bc4 1_187463254_CCTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 187463254 C CTA 480 PASS - Ins - 2 4 MSH6 child 1_187463254_CCTA_MSH6 2 2 - - - - Ins 25ddf028-3256-11e6-8ebc-3ef212ae24cf 15_22304109_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 22304109 A AT 660 PASS - Ins - 1 8 MSH6 child 15_22304109_AAT_MSH6 1 1 - - - - Ins 25e7e9ac-328d-11e6-8e48-791e0e01a414 8_42050891_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 42050891 AT A 300 PASS PLAT Del intronic 1 6 MSH6 child 8_42050891_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 25f05e3c-3258-11e6-9d5a-0c8112ae24cf 9_21664308_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 21664308 C CT 900 PASS - Ins - 1 2 MSH6 child 9_21664308_CCT_MSH6 1 1 - - - - Ins 25f1d886-3288-11e6-adaf-064690e2c2e6 7_100094967_CAC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 7 100094967 CA C 600 PASS NYAP1 Del downstream 1 8 POLE child 7_100094967_CAC_POLE 1 1 1 A 7 A Repeat-mediated 25fca644-3323-11e6-8db2-39e579852e0e 2_232577044_CAGTC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 2 232577044 CAGT C 908 PASS PTMA Del intronic 3 1 POLE child 2_232577044_CAGTC_POLE 3 3 2 AG 0 - Microhomology-mediated 2612ae52-3257-11e6-aa0b-72f912ae24cf 8_99706583_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 99706583 CT C 660 PASS STK3 Del intronic 1 9 POLB child 8_99706583_CTC_POLB 1 1 1 T 8 T Repeat-mediated 26160ed8-3286-11e6-a1ac-fd6da2c71c31 13_77806350_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 77806350 C CA 300 PASS MYCBP2 Ins intronic 1 7 MSH6 child 13_77806350_CCA_MSH6 1 1 - - - - Ins 26197048-3270-11e6-aff7-9ad52aaffa45 1_111405901_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 1 111405901 CT C 360 PASS - Del - 1 8 NEIL1 child 1_111405901_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated 2625e696-3277-11e6-9e0f-7959cab49462 7_111002199_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 111002199 CA C 540 PASS IMMP2L Del intronic 1 9 MSH6 child 7_111002199_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 26279162-328b-11e6-8459-82090e01a414 12_110669586_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 110669586 TA T 360 PASS - Del - 1 7 MSH6 child 12_110669586_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 26285b8a-3270-11e6-8418-1c5942c4520d 3_18943282_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 18943282 CT C 300 PASS - Del - 1 8 MSH6 child 3_18943282_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 262c04b2-326e-11e6-92dd-fda8977b3f23 10_112338967_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 112338967 CT C 360 PASS SMC3 Del intronic 1 9 MSH6 child 10_112338967_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2632cda2-329f-11e6-91d0-016425c9da85 7_99830598_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 99830598 AT A 300 PASS GATS Del intronic 1 8 MSH6 child 7_99830598_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 26440e28-3277-11e6-a71d-236235cec73b X_88695600_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 88695600 AT A 319 PASS RP13-348B13.2 Del intronic 1 5 MSH6 child X_88695600_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 26462b46-3285-11e6-9346-16323cfdbd24 2_59695518_AAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 2 59695518 A AT 360 PASS AC007131.2 Ins intronic 1 1 POLE parent 2_59695518_AAT_POLE 1 1 - - - - Ins 264db94e-3274-11e6-841e-3c0fc7271a47 12_100816023_AAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 12 100816023 A AT 540 PASS SLC17A8 Ins downstream 1 8 MSH6 parent 12_100816023_AAT_MSH6 1 1 - - - - Ins 264fcad2-3255-11e6-89d3-d29498816cf3 2_175683359_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 175683359 AT A 1080 PASS CHN1 Del intronic 1 9 MSH6 child 2_175683359_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 26512574-3293-11e6-92cf-bf2a0e01a414 6_103130833_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 103130833 T TA 480 PASS - Ins - 1 7 MSH6 child 6_103130833_TTA_MSH6 1 1 - - - - Ins 26572660-327d-11e6-b10b-a867faf1a024 1_62415924_ATA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 1 62415924 AT A 720 PASS INADL Del intronic 1 7 POLB parent 1_62415924_ATA_POLB 1 1 1 T 6 T Repeat-mediated 265ed042-329e-11e6-bc2c-2a5e25c9da85 4_79880936_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 79880936 CT C 900 PASS - Del - 1 8 MSH6 child 4_79880936_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 266202d8-3287-11e6-8358-6179a178171f 17_77042335_CAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 17 77042335 CA C 420 PASS C1QTNF1 Del intronic 1 3 FANCC child 17_77042335_CAC_FANCC 1 1 1 A 2 A Repeat-mediated 26663976-3277-11e6-998e-ba48fa52e078 8_110761210_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 110761210 AG A 540 PASS - Del - 1 1 MSH6 child 8_110761210_AGA_MSH6 1 1 0 - 0 G None 266ccc72-3278-11e6-ab97-84f471d7bc54 6_133581145_TAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 6 133581145 TA T 1140 PASS EYA4 Del intronic 1 7 NEIL1 child 6_133581145_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated 267960ea-3291-11e6-9401-04ed6f39e758 3_78992365_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 78992365 CA C 420 PASS ROBO1 Del intronic 1 8 MSH6 child 3_78992365_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 26853240-3286-11e6-aa79-5da038e8a824 6_39603077_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 6 39603077 TA T 300 PASS KIF6 Del intronic 1 8 POLE parent 6_39603077_TAT_POLE 1 1 1 A 7 A Repeat-mediated 2689ebaa-3277-11e6-a390-fc104530f757 1_164886825_AAGATAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 164886825 A AGATAT 300 PASS - Ins - 5 0 FANCC child 1_164886825_AAGATAT_FANCC 5 5 - - - - Ins 268bf196-3279-11e6-a71d-236235cec73b X_103768241_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 103768241 C CT 300 PASS - Ins - 1 9 MSH6 child X_103768241_CCT_MSH6 1 1 - - - - Ins 268cd412-326f-11e6-bbd0-e88a64f80bad 16_7063027_GCG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 16 7063027 GC G 480 PASS RBFOX1 Del intronic 1 3 EXO1 parent 16_7063027_GCG_EXO1 1 1 1 C 2 C Repeat-mediated 26906644-328e-11e6-bfa2-581f0e01a414 7_88045452_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 88045452 AT A 300 PASS - Del - 1 7 MSH6 child 7_88045452_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 26912bf4-3259-11e6-91d3-a68412ae24cf 7_41814390_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 41814390 C CA 300 PASS - Ins - 1 8 MSH6 child 7_41814390_CCA_MSH6 1 1 - - - - Ins 269b79d2-3255-11e6-a304-347a7872c165 1_103437774_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 103437774 CT C 480 PASS COL11A1 Del intronic 1 8 MSH6 child 1_103437774_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 269f9e26-3279-11e6-a862-bc9becf1e924 1_205202987_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 205202987 C CT 420 PASS TMCC2 Ins intronic 1 9 MSH6 child 1_205202987_CCT_MSH6 1 1 - - - - Ins 26aa464c-3273-11e6-a685-a844e7d0bdd7 10_27422615_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 10 27422615 TA T 660 PASS YME1L1 Del intronic 1 8 EXO1 child 10_27422615_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 26ad2df0-328a-11e6-940d-53a538e8a824 2_235460552_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 235460552 AT A 360 PASS - Del - 1 9 NUDT1 parent 2_235460552_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 26b06a00-326d-11e6-b9f4-5d1d694da5d2 14_57377001_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 57377001 AC A 300 PASS - Del - 1 7 MSH6 child 14_57377001_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 26bcd7b6-328d-11e6-b9c4-751d0e01a414 5_55432593_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 55432593 CA C 540 PASS ANKRD55 Del intronic 1 6 MSH6 child 5_55432593_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 26c03c88-3276-11e6-9608-84e46de4ab00 7_20064603_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 20064603 TA T 480 PASS - Del - 1 9 EXO1 child 7_20064603_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 26c14750-3293-11e6-92cf-bf2a0e01a414 6_103402421_CCTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 103402421 C CTG 300 PASS - Ins - 2 7 MSH6 child 6_103402421_CCTG_MSH6 2 2 - - - - Ins 26ce8760-3290-11e6-b52f-4eeb6f39e758 22_42113174_TTAAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 42113174 TTAA T 480 PASS MEI1 Del intronic 3 6 MSH6 child 22_42113174_TTAAT_MSH6 3 3 3 TAA 5 TAA Repeat-mediated 26e3df70-3281-11e6-ab82-b5262eaed38e 14_95916849_CAC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 14 95916849 CA C 420 PASS SYNE3 Del intronic 1 7 POLB child 14_95916849_CAC_POLB 1 1 1 A 6 A Repeat-mediated 26e440fa-3281-11e6-9e54-079882d12d16 12_76578263_AGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 12 76578263 AG A 300 PASS - Del - 1 1 FANCC child 12_76578263_AGA_FANCC 1 1 0 - 0 G None 26e6f194-329d-11e6-b696-dd6225c9da85 5_6060983_TTCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 6060983 TTC T 480 PASS - Del - 2 5 MSH6 child 5_6060983_TTCT_MSH6 2 2 2 TC 4 TC Repeat-mediated 26ecc334-329e-11e6-bc2c-2a5e25c9da85 4_79967444_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 79967444 AT A 720 PASS - Del - 1 9 MSH6 child 4_79967444_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 26fc3ec0-328c-11e6-b805-77090e01a414 2_192887732_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 192887732 CT C 660 PASS TMEFF2 Del intronic 1 9 MSH6 child 2_192887732_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 270058a2-3291-11e6-9d97-efe56f39e758 4_170612953_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 170612953 CT C 660 PASS CLCN3 Del intronic 1 7 MSH6 child 4_170612953_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 270a6fe0-326e-11e6-bc62-6d4742c4520d 16_19642809_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 19642809 G GT 420 PASS C16orf62 Ins intronic 1 7 MSH6 child 16_19642809_GGT_MSH6 1 1 - - - - Ins 270b9788-3275-11e6-a862-bc9becf1e924 1_186943846_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 186943846 AT A 600 PASS PLA2G4A Del intronic 1 7 MSH6 child 1_186943846_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2710a776-3272-11e6-94a5-6c01ebb8d062 8_20891943_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 8 20891943 CT C 300 PASS - Del - 1 8 NUDT1 child 8_20891943_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 2711761c-3275-11e6-a5d0-4fd14a47a305 2_236132020_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 236132020 CA C 300 PASS - Del - 1 9 MSH6 child 2_236132020_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2712a47e-329d-11e6-bc2c-2a5e25c9da85 4_16801492_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 16801492 TA T 360 PASS LDB2 Del intronic 1 7 MSH6 child 4_16801492_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 271b7e94-328b-11e6-b805-77090e01a414 2_126206869_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 126206869 CT C 1080 PASS - Del - 1 6 MSH6 child 2_126206869_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 271c89dc-329b-11e6-a5cf-205325c9da85 11_79537137_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 79537137 AT A 540 PASS - Del - 1 9 MSH6 child 11_79537137_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 271eefd2-3292-11e6-8c3d-0ab4e7d0bdd7 3_105769286_CTGCGGATGC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 105769286 CTGCGGATG C 600 PASS - Del - 8 1 FANCC child 3_105769286_CTGCGGATGC_FANCC 8 8 2 TG 0 - Microhomology-mediated 271ef2bc-3287-11e6-86fa-e88f1da8ec0e 21_27781593_AGA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 21 27781593 AG A 300 PASS - Del - 1 4 EXO1 child 21_27781593_AGA_EXO1 1 1 1 G 3 G Repeat-mediated 272054c6-3283-11e6-ab87-22bd9b6d3b88 10_80924978_AAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 10 80924978 A AT 660 PASS ZMIZ1 Ins intronic 1 0 EXO1 child 10_80924978_AAT_EXO1 1 1 - - - - Ins 273c3cd4-328f-11e6-8e48-791e0e01a414 8_103453230_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 103453230 GA G 300 PASS - Del - 1 9 MSH6 child 8_103453230_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 27440a38-3288-11e6-a284-4b89a2c71c31 4_149262895_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 149262895 TA T 480 PASS NR3C2 Del intronic 1 8 MSH6 child 4_149262895_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 274e27e4-32a0-11e6-bc66-17b4cc638e3d 8_86103360_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 86103360 TA T 420 PASS E2F5 Del intronic 1 9 MSH6 child 8_86103360_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2750fbb2-3292-11e6-b953-aba9fa52e078 16_54650989_GTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 16 54650989 GT G 300 PASS - Del - 1 8 NUDT1 child 16_54650989_GTG_NUDT1 1 1 1 T 7 T Repeat-mediated 2752f90c-3257-11e6-91d3-a68412ae24cf 7_48845469_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 48845469 GA G 360 PASS - Del - 1 8 MSH6 child 7_48845469_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2759ba00-328c-11e6-b43c-7ec36f39e758 16_32647797_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 32647797 CT C 420 PASS - Del - 1 9 MSH6 child 16_32647797_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 275e3496-3277-11e6-998e-ba48fa52e078 8_111227640_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 111227640 AG A 300 PASS - Del - 1 1 MSH6 child 8_111227640_AGA_MSH6 1 1 0 - 0 G None 275fc080-326e-11e6-b306-b5204b47a305 2_137791349_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 137791349 AT A 480 PASS THSD7B Del intronic 1 8 MSH6 child 2_137791349_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 27726ec2-329d-11e6-a5cf-e5abcc638e3d 9_75358497_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 75358497 AG A 277 PASS TMC1 Del intronic 1 1 MSH6 child 9_75358497_AGA_MSH6 1 1 0 - 0 G None 27782950-328b-11e6-9c89-8d090e01a414 1_106694878_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 106694878 GA G 480 PASS - Del - 1 7 MSH6 child 1_106694878_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 277865cc-3287-11e6-8392-fc5a51c54cdd 7_16988585_GCG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 7 16988585 GC G 1080 PASS - Del - 1 4 EXO1 child 7_16988585_GCG_EXO1 1 1 1 C 3 C Repeat-mediated 27842698-3280-11e6-8049-10fc028949d4 1_39251198_CCTTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 1 39251198 CCTT C 840 PASS - Del - 3 2 POLM child 1_39251198_CCTTC_POLM 3 3 3 CTT 1 CTT Repeat-mediated 27845226-3294-11e6-8d91-0b8730158702 1_240941022_CGTTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 1 240941022 CGTT C 299 PASS RGS7 Del intronic 3 1 NUDT1 child 1_240941022_CGTTC_NUDT1 3 3 2 GT 0 - Microhomology-mediated 279539de-3270-11e6-b4bf-85eb97ba1142 2_104448558_TCT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 104448558 TC T 360 PASS - Del - 1 1 EXO1 parent 2_104448558_TCT_EXO1 1 1 0 - 0 C None 27a0dd2e-3271-11e6-b923-6726694da5d2 5_123545829_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 123545829 AG A 300 PASS - Del - 1 4 MSH6 child 5_123545829_AGA_MSH6 1 1 1 G 3 G Repeat-mediated 27a53308-328d-11e6-bd84-429305ad5bc4 1_218370791_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 218370791 AT A 420 PASS - Del - 1 7 MSH6 child 1_218370791_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 27abb88a-3284-11e6-847a-5cef1da8ec0e 11_32627683_TTTTCAAGTTACT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 11 32627683 TTTTCAAGTTAC T 300 PASS EIF3M Del 3prime_UTR_variant 11 1 EXO1 child 11_32627683_TTTTCAAGTTACT_EXO1 11 >=10 3 TTT 0 - Microhomology-mediated 27b40db6-3273-11e6-b89d-b2d6b0dab373 4_42699162_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 42699162 G GT 340 PASS - Ins - 1 8 MSH6 child 4_42699162_GGT_MSH6 1 1 - - - - Ins 27b564d0-3274-11e6-9c69-5197cdacbbbf 8_27273606_TAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 8 27273606 TA T 360 PASS PTK2B Del intronic 1 9 NUDT1 child 8_27273606_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 27b6161e-3288-11e6-a284-4b89a2c71c31 4_149467432_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 149467432 CA C 420 PASS - Del - 1 9 MSH6 child 4_149467432_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 27b8cafe-3273-11e6-8f33-a6d9cde16804 11_69347919_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 69347919 TG T 900 PASS - Del - 1 7 MSH6 child 11_69347919_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 27bb7922-3271-11e6-90d3-9639fc77b11e 13_26433371_CAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 13 26433371 CA C 720 PASS ATP8A2 Del intronic 1 9 MSH6 parent 13_26433371_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 27bca00e-328a-11e6-a8b1-14ec54de4fc4 11_103647633_ATA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 11 103647633 AT A 300 PASS RP11-563P16.1 Del intronic 1 8 CHK2 child 11_103647633_ATA_CHK2 1 1 1 T 7 T Repeat-mediated 27c62a78-3291-11e6-93a2-2649d7db33ec 20_3117552_TGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCTACTGCACCCAGTCCCTGTTTTTCTGAGACAGTGTCTCACTCTGATGCCCGGGCTGGAGTGCAGTGGGGCAATCTCGACTCACTGCAGCCTTCACCTCCCGGGTTCAAGCAATTTTTGTGCCTCAGCCTCCCAAGTAGGTAGGACTACAGGCATGACCCATGCCTGGCTAATTTTCGCATTTTCAGTAGAGACAGGGTTTCACCATGGTAGCCAGGATGGTCTCGAACTTCTGACCTCAAGTGATCCACCTGCCTCT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 20 3117552 TGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCTACTGCACCCAGTCCCTGTTTTTCTGAGACAGTGTCTCACTCTGATGCCCGGGCTGGAGTGCAGTGGGGCAATCTCGACTCACTGCAGCCTTCACCTCCCGGGTTCAAGCAATTTTTGTGCCTCAGCCTCCCAAGTAGGTAGGACTACAGGCATGACCCATGCCTGGCTAATTTTCGCATTTTCAGTAGAGACAGGGTTTCACCATGGTAGCCAGGATGGTCTCGAACTTCTGACCTCAAGTGATCCACCTGCCTC T 289 PASS UBOX5 Del intronic 290 1 POLE child 20_3117552_TGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCTACTGCACCCAGTCCCTGTTTTTCTGAGACAGTGTCTCACTCTGATGCCCGGGCTGGAGTGCAGTGGGGCAATCTCGACTCACTGCAGCCTTCACCTCCCGGGTTCAAGCAATTTTTGTGCCTCAGCCTCCCAAGTAGGTAGGACTACAGGCATGACCCATGCCTGGCTAATTTTCGCATTTTCAGTAGAGACAGGGTTTCACCATGGTAGCCAGGATGGTCTCGAACTTCTGACCTCAAGTGATCCACCTGCCTCT_POLE 290 >=10 19 GGCCTCCCAAAGTGCTGGG 0 - Microhomology-mediated 27cfd6d2-327c-11e6-afd3-40acd8b4fa2c 5_176021841_GGGT . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 5 176021841 G GGT 300 PASS CDHR2 Ins intronic 2 6 POLM child 5_176021841_GGGT_POLM 2 2 - - - - Ins 27d0b588-3255-11e6-b4d0-327a7872c165 11_110008662_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 110008662 GA G 660 PASS ZC3H12C Del intronic 1 8 MSH6 child 11_110008662_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 27e2b208-3285-11e6-bec9-6bfa4430f757 10_85612279_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 10 85612279 CA C 1020 PASS - Del - 1 8 EXO1 child 10_85612279_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 27e4bfc2-328e-11e6-b6a6-1f1e0e01a414 4_105961401_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 105961401 GA G 300 PASS RP11-556I14.1 Del intronic 1 5 MSH6 child 4_105961401_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 27e9e3a6-3290-11e6-9432-c0e56f39e758 5_110996121_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 110996121 CA C 300 PASS - Del - 1 9 MSH6 child 5_110996121_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 27efbc9c-329d-11e6-b129-195325c9da85 16_75711637_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 75711637 C CA 420 PASS - Ins - 1 6 MSH6 child 16_75711637_CCA_MSH6 1 1 - - - - Ins 27f8b15c-328f-11e6-8f31-bfe16f39e758 9_105054546_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 105054546 GA G 420 PASS - Del - 1 5 MSH6 child 9_105054546_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 2805f268-3271-11e6-8454-c65566a58581 13_44603204_TAAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 13 44603204 TAA T 360 PASS LINC00284 Del nc_variant 2 3 FANCC child 13_44603204_TAAT_FANCC 2 2 1 A 0 - Microhomology-mediated 280a2200-3278-11e6-998e-ba48fa52e078 8_34981467_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 34981467 G GA 300 PASS - Ins - 1 7 MSH6 child 8_34981467_GGA_MSH6 1 1 - - - - Ins 280b7f8e-3349-11e6-a997-309d38e8a824 4_62326331_CGAGACTGGGTAATATATAAAGAAAAAGGGGTTTAGTATACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGCAAAGGAGGAGAAAGGCATATCTTTCATGGCAGCAGGCAAGAGAGAAGCCAAGCAAAAGGGGAAACCCTTTATAAAACCATCAGATCGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 62326331 CGAGACTGGGTAATATATAAAGAAAAAGGGGTTTAGTATACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGCAAAGGAGGAGAAAGGCATATCTTTCATGGCAGCAGGCAAGAGAGAAGCCAAGCAAAAGGGGAAACCCTTTATAAAACCATCAGATCGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGG C 480 PASS LPHN3 Del intronic 383 1 FANCC child 4_62326331_CGAGACTGGGTAATATATAAAGAAAAAGGGGTTTAGTATACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGCAAAGGAGGAGAAAGGCATATCTTTCATGGCAGCAGGCAAGAGAGAAGCCAAGCAAAAGGGGAAACCCTTTATAAAACCATCAGATCGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGC_FANCC 383 >=10 3 GAG 0 - Microhomology-mediated 280e4fca-3272-11e6-abaf-4642cab49462 6_36841078_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 36841078 CA C 420 PASS PPIL1 Del intronic 1 9 MSH6 child 6_36841078_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 280f1e44-326f-11e6-b5b8-e0c24a47a305 X_11973704_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 11973704 CA C 300 PASS - Del - 1 7 MSH6 child X_11973704_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2811979a-3257-11e6-acc5-308412ae24cf 5_51796082_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 51796082 GA G 540 PASS - Del - 1 4 MSH6 child 5_51796082_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 2813401c-3285-11e6-b1ba-6def1da8ec0e 1_100162722_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 100162722 AT A 300 PASS PALMD Del downstream 1 7 EXO1 child 1_100162722_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 28163d02-3286-11e6-b093-c9c7b0dab373 2_142911109_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 142911109 CT C 540 PASS - Del - 1 9 MSH6 child 2_142911109_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2820d792-3323-11e6-917a-b666694da5d2 11_108318057_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 11 108318057 AT A 592 PASS C11orf65 Del intronic 1 9 EXO1 child 11_108318057_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 2825a06e-3275-11e6-abaf-4642cab49462 6_58168366_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 58168366 G GA 343 PASS - Ins - 1 5 MSH6 child 6_58168366_GGA_MSH6 1 1 - - - - Ins 28287fec-3279-11e6-bb6d-38aec042253c 3_153989587_CATC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 3 153989587 CAT C 420 PASS DHX36 Del downstream 2 2 CHK2 child 3_153989587_CATC_CHK2 2 2 2 AT 1 AT Repeat-mediated 282a0544-329f-11e6-bc2c-2a5e25c9da85 4_145455630_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 145455630 CT C 780 PASS - Del - 1 8 MSH6 child 4_145455630_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 282fbd98-326f-11e6-a6cd-d6ad4dc77248 2_24173067_TAGGT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 2 24173067 TAGG T 660 PASS UBXN2A Del intronic 3 2 NUDT1 child 2_24173067_TAGGT_NUDT1 3 3 3 AGG 1 AGG Repeat-mediated 2830cd0a-3279-11e6-b34d-d86cf7be831b 14_49761119_CTGAGGCAATGC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 14 49761119 CTGAGGCAATG C 660 PASS - Del - 10 1 FANCC parent 14_49761119_CTGAGGCAATGC_FANCC 10 >=10 1 T 0 - Microhomology-mediated 284051d6-328c-11e6-bd84-429305ad5bc4 1_79310967_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 79310967 GA G 280 PASS - Del - 1 7 MSH6 child 1_79310967_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 284053da-326d-11e6-b306-b5204b47a305 2_47266692_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 47266692 AT A 360 PASS TTC7A Del intronic 1 9 MSH6 child 2_47266692_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2843efd4-3256-11e6-bf41-357a7872c165 10_36973666_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 36973666 C CA 540 PASS - Ins - 1 6 MSH6 child 10_36973666_CCA_MSH6 1 1 - - - - Ins 284aba5c-329d-11e6-a5cf-e5abcc638e3d 9_75617371_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 75617371 GT G 480 PASS ALDH1A1 Del intronic 1 9 MSH6 child 9_75617371_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 284b1210-3255-11e6-8ebc-3ef212ae24cf 15_76539016_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 76539016 CA C 720 PASS ETFA Del intronic 1 8 MSH6 child 15_76539016_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 2851c216-3270-11e6-a202-899bcc638e3d 16_75843274_TAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 16 75843274 TA T 360 PASS - Del - 1 8 NEIL1 child 16_75843274_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 2861bd84-3274-11e6-9fdc-736366a58581 6_47139367_AAATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 6 47139367 AAAT A 300 PASS - Del - 3 3 EXO1 parent 6_47139367_AAATA_EXO1 3 3 3 AAT 2 AAT Repeat-mediated 2863c834-3271-11e6-8418-1c5942c4520d 3_115552888_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 115552888 GA G 360 PASS LSAMP Del intronic 1 9 MSH6 child 3_115552888_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 286be2b0-3282-11e6-8767-7cd94dc77248 6_86933295_TTG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 6 86933295 T TG 300 PASS - Ins - 1 0 NUDT1 child 6_86933295_TTG_NUDT1 1 1 - - - - Ins 287236fe-3270-11e6-8325-b737c225ee11 1_83186765_CTTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 1 83186765 CTT C 540 PASS - Del - 2 3 NUDT1 child 1_83186765_CTTC_NUDT1 2 2 1 T 0 - Microhomology-mediated 2874a2dc-3279-11e6-a391-f6d67d6a9fc7 6_113962581_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 113962581 CA C 600 PASS RP11-367G18.1 Del intronic 1 6 MSH6 child 6_113962581_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 28757b26-326f-11e6-bfba-13bf4a47a305 9_78435779_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 78435779 GT G 480 PASS - Del - 1 6 MSH6 child 9_78435779_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 2876af1a-328c-11e6-b805-77090e01a414 2_193274942_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 193274942 AT A 300 PASS - Del - 1 9 MSH6 child 2_193274942_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2878f7a6-3274-11e6-a862-bc9becf1e924 1_114886510_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 114886510 AT A 300 PASS - Del - 1 8 MSH6 child 1_114886510_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 28792790-32a0-11e6-b696-dd6225c9da85 5_12060869_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 12060869 C CA 360 PASS - Ins - 1 6 MSH6 child 5_12060869_CCA_MSH6 1 1 - - - - Ins 287a64f0-328e-11e6-bec1-ca1d0e01a414 X_71584747_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 71584747 AT A 480 PASS HDAC8 Del intronic 1 8 MSH6 child X_71584747_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 287ea7ae-329d-11e6-bc2c-2a5e25c9da85 4_17155087_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 17155087 CT C 960 PASS - Del - 1 6 MSH6 child 4_17155087_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 287facda-328e-11e6-b9c4-751d0e01a414 5_128560959_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 128560959 CT C 540 PASS - Del - 1 6 MSH6 child 5_128560959_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 288bea24-3291-11e6-919e-92c36f39e758 2_132777002_CCAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 132777002 C CAT 381 PASS - Ins - 2 5 MSH6 child 2_132777002_CCAT_MSH6 2 2 - - - - Ins 288f9a1a-3288-11e6-b093-c9c7b0dab373 2_56267073_AAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 56267073 A AC 600 PASS RP11-481J13.1 Ins intronic 1 7 MSH6 child 2_56267073_AAC_MSH6 1 1 - - - - Ins 28919e56-3273-11e6-83ef-69fb06e9a829 18_54581880_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 54581880 AT A 540 PASS WDR7 Del intronic 1 8 MSH6 child 18_54581880_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2899867a-329b-11e6-b549-1e5325c9da85 10_77370261_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 77370261 AC A 720 PASS - Del - 1 1 MSH6 child 10_77370261_ACA_MSH6 1 1 0 - 0 C None 289b5c5a-3289-11e6-b686-d35a51c54cdd 4_155418551_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 155418551 AT A 540 PASS - Del - 1 3 EXO1 child 4_155418551_ATA_EXO1 1 1 1 T 2 T Repeat-mediated 289fe730-3279-11e6-909e-86e86de4ab00 3_133986998_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 3 133986998 CT C 480 PASS - Del - 1 7 EXO1 child 3_133986998_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 28a18818-3285-11e6-870e-6af1bbe6aa09 19_47924063_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 47924063 AG A 360 PASS MEIS3 Del upstream 1 6 MSH6 child 19_47924063_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 28a77ab8-3274-11e6-803d-c550e7d0bdd7 11_113570375_ACA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 11 113570375 AC A 300 PASS TMPRSS5 Del frameshift 1 1 EXO1 child 11_113570375_ACA_EXO1 1 1 0 - 0 C None 28aaa204-329e-11e6-bc2c-2a5e25c9da85 4_80495725_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 80495725 GA G 300 PASS LINC00989 Del intronic 1 4 MSH6 child 4_80495725_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 28ab0d30-3275-11e6-ab69-1c1607e9a829 9_35627289_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 35627289 AT A 600 PASS - Del - 1 9 MSH6 child 9_35627289_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 28b69636-3258-11e6-b950-8759fa52e078 X_141547847_TAT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA X 141547847 TA T 540 PASS - Del - 1 8 POLM child X_141547847_TAT_POLM 1 1 1 A 7 A Repeat-mediated 28c8bdb4-3273-11e6-94cc-1ec335cec73b 19_33390211_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 33390211 AT A 960 PASS CEP89 Del intronic 1 9 MSH6 child 19_33390211_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 28ca5c96-328c-11e6-a80b-87090e01a414 11_40865790_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 40865790 A AT 780 PASS LRRC4C Ins intronic 1 1 MSH6 child 11_40865790_AAT_MSH6 1 1 - - - - Ins 28d4bb32-328c-11e6-bd84-429305ad5bc4 1_79698515_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 79698515 AT A 480 PASS - Del - 1 8 MSH6 child 1_79698515_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 28da03ca-3274-11e6-bfb2-2749c225ee11 12_120229530_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 120229530 CT C 360 PASS CIT Del intronic 1 8 MSH6 child 12_120229530_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 28db174c-3274-11e6-a5d0-4fd14a47a305 2_157118333_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 157118333 TA T 540 PASS - Del - 1 9 MSH6 child 2_157118333_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 28e05414-3288-11e6-adaf-064690e2c2e6 7_100545947_GCAACCCAACCCACCTATACACCCACCAGCTGGATAAGAACATTTGTTTTACTTTATCTTGTTTTTGAAATGAAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGAGGCACGATCTCAGCTCATTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGGTGGGATTACAGTTGCCCACCCCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGTCTAGTCTCGAACCCCTGACCTCAAGTGATCCTCAAATTACTCTTTTAAAAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 7 100545947 GCAACCCAACCCACCTATACACCCACCAGCTGGATAAGAACATTTGTTTTACTTTATCTTGTTTTTGAAATGAAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGAGGCACGATCTCAGCTCATTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGGTGGGATTACAGTTGCCCACCCCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGTCTAGTCTCGAACCCCTGACCTCAAGTGATCCTCAAATTACTCTTTTAAAA G 268 PASS MUC3A Del upstream 308 1 POLE child 7_100545947_GCAACCCAACCCACCTATACACCCACCAGCTGGATAAGAACATTTGTTTTACTTTATCTTGTTTTTGAAATGAAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGAGGCACGATCTCAGCTCATTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGGTGGGATTACAGTTGCCCACCCCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGTCTAGTCTCGAACCCCTGACCTCAAGTGATCCTCAAATTACTCTTTTAAAAG_POLE 308 >=10 16 CAACCCAACCCACCTA 0 - Microhomology-mediated 28e47a2a-3324-11e6-aad6-fc2b9a696edf 9_10105170_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 10105170 AT A 600 PASS - Del - 1 8 EXO1 child 9_10105170_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 28e650da-326f-11e6-bfba-13bf4a47a305 9_78596477_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 78596477 CT C 360 PASS PCSK5 Del intronic 1 8 MSH6 child 9_78596477_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 28efd298-328f-11e6-b6a6-1f1e0e01a414 4_168271858_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 168271858 AT A 480 PASS - Del - 1 6 MSH6 child 4_168271858_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 28efd622-328e-11e6-8c87-38240e01a414 22_43717986_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 43717986 AT A 420 PASS SCUBE1 Del intronic 1 4 MSH6 child 22_43717986_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 28f4d43c-3276-11e6-acb5-bbf1bbe6aa09 7_116390829_CTTCTCAAAAGAAGACAC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 7 116390829 CTTCTCAAAAGAAGACA C 300 PASS MET Del intronic 16 1 POLB child 7_116390829_CTTCTCAAAAGAAGACAC_POLB 16 >=10 2 TT 0 - Microhomology-mediated 28f85844-3278-11e6-a391-f6d67d6a9fc7 6_39595104_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 39595104 AT A 420 PASS KIF6 Del intronic 1 8 MSH6 child 6_39595104_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 28f8af38-3278-11e6-ab97-84f471d7bc54 6_134543851_GAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 6 134543851 GA G 600 PASS SGK1 Del intronic 1 6 NEIL1 child 6_134543851_GAG_NEIL1 1 1 1 A 5 A Repeat-mediated 28f8b188-3258-11e6-91d3-a68412ae24cf 7_128244148_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 128244148 AT A 468 PASS - Del - 1 8 MSH6 child 7_128244148_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2905a900-3286-11e6-b0bc-c7a46f39e758 5_3293174_CTCGGCCTCCCAAAGC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 5 3293174 CTCGGCCTCCCAAAG C 360 PASS - Del - 14 1 EXO1 child 5_3293174_CTCGGCCTCCCAAAGC_EXO1 14 >=10 1 T 0 - Microhomology-mediated 290a3dde-328c-11e6-919e-92c36f39e758 2_42840471_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 42840471 GT G 420 PASS MTA3 Del intronic 1 7 MSH6 child 2_42840471_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 29131e86-3273-11e6-9e18-3a69671699ea 10_56951707_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 56951707 TA T 480 PASS PCDH15 Del intronic 1 8 MSH6 child 10_56951707_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 291324ae-3272-11e6-9850-b83e75253f64 12_90391907_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 90391907 AT A 300 PASS - Del - 1 9 FANCC child 12_90391907_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 29151416-3273-11e6-93da-67a49b6d3b88 14_48053867_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 14 48053867 AT A 660 PASS MDGA2 Del intronic 1 5 EXO1 child 14_48053867_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 29151494-3290-11e6-b6a6-1f1e0e01a414 4_27759551_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 27759551 A AT 300 PASS - Ins - 1 1 MSH6 child 4_27759551_AAT_MSH6 1 1 - - - - Ins 291da094-3288-11e6-9317-6ba56f39e758 8_83258826_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 83258826 AT A 360 PASS - Del - 1 8 EXO1 child 8_83258826_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 292b3fa6-328d-11e6-a6be-80b6d7db33ec 1_77034584_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 1 77034584 AT A 480 PASS ST6GALNAC3 Del intronic 1 9 POLE child 1_77034584_ATA_POLE 1 1 1 T 8 T Repeat-mediated 292cb72c-3324-11e6-aad6-fc2b9a696edf 9_10139326_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 10139326 TA T 660 PASS - Del - 1 8 EXO1 child 9_10139326_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 293da3a0-3277-11e6-a2ca-20c1f7be831b 5_109558433_CCATAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 5 109558433 C CATAT 300 PASS - Ins - 4 0 CHK2 child 5_109558433_CCATAT_CHK2 4 4 - - - - Ins 2941d33a-328b-11e6-9c89-8d090e01a414 1_107433093_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 107433093 AC A 300 PASS - Del - 1 7 MSH6 child 1_107433093_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 294a9148-3275-11e6-8f33-a6d9cde16804 11_111223667_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 111223667 C CA 300 PASS POU2AF1 Ins 3prime_UTR_variant 1 7 MSH6 child 11_111223667_CCA_MSH6 1 1 - - - - Ins 294f5cec-328d-11e6-a434-81ad12ae24cf 7_94069042_ATA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 7 94069042 AT A 540 PASS - Del - 1 5 CHK2 child 7_94069042_ATA_CHK2 1 1 1 T 4 T Repeat-mediated 295a6e02-3279-11e6-a391-f6d67d6a9fc7 6_114103339_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 114103339 CA C 420 PASS - Del - 1 9 MSH6 child 6_114103339_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2963eb92-3271-11e6-a66c-37f41da8ec0e 16_22300117_CCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGATCACCTGAGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGATGAAACCCTGTCTGTACTAAAAATACAAAAATTGGCCGGGCATGGTGGCGCACACCTGTAGTCCCATCTGCTCAGGAGGCTGAGACAGGAGAATTGCTTAAAGCCGGAAGATGGAGGTTGCAGTGAGCCCAGATCCTGTCATTGCACCCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAGGTGGGGGATCGGGTGCGGTGGC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 16 22300117 CCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGATCACCTGAGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGATGAAACCCTGTCTGTACTAAAAATACAAAAATTGGCCGGGCATGGTGGCGCACACCTGTAGTCCCATCTGCTCAGGAGGCTGAGACAGGAGAATTGCTTAAAGCCGGAAGATGGAGGTTGCAGTGAGCCCAGATCCTGTCATTGCACCCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAGGTGGGGGATCGGGTGCGGTGG C 300 PASS EEF2K Del downstream 301 1 FANCC child 16_22300117_CCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGATCACCTGAGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGATGAAACCCTGTCTGTACTAAAAATACAAAAATTGGCCGGGCATGGTGGCGCACACCTGTAGTCCCATCTGCTCAGGAGGCTGAGACAGGAGAATTGCTTAAAGCCGGAAGATGGAGGTTGCAGTGAGCCCAGATCCTGTCATTGCACCCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAGGTGGGGGATCGGGTGCGGTGGC_FANCC 301 >=10 32 CTCACGCCTGTAATCCCAGCACTTTGGGAGGC 0 - Microhomology-mediated 296cef46-3279-11e6-b81c-d33a1daa6045 8_99246777_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 8 99246777 AT A 420 PASS NIPAL2 Del intronic 1 9 NEIL1 child 8_99246777_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 296ed0cc-3274-11e6-84df-cb0cebb8d062 14_66396238_TGT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 14 66396238 TG T 480 PASS - Del - 1 6 EXO1 child 14_66396238_TGT_EXO1 1 1 1 G 5 G Repeat-mediated 296f6560-3273-11e6-9e18-3a69671699ea 10_57064109_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 57064109 GA G 840 PASS PCDH15 Del intronic 1 7 MSH6 child 10_57064109_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 296fb6a6-3290-11e6-b52f-4eeb6f39e758 22_42582249_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 42582249 GA G 600 PASS TCF20 Del intronic 1 7 MSH6 child 22_42582249_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2970ca1a-3258-11e6-acc5-308412ae24cf 5_129504815_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 129504815 AT A 480 PASS CHSY3 Del intronic 1 8 MSH6 child 5_129504815_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 297107ac-328d-11e6-ad89-6ebfcc638e3d X_65589166_GTG . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA X 65589166 GT G 540 PASS - Del - 1 5 NUDT1 child X_65589166_GTG_NUDT1 1 1 1 T 4 T Repeat-mediated 2987f25e-3270-11e6-92dd-fda8977b3f23 10_130443217_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 130443217 T TA 300 PASS - Ins - 1 6 MSH6 child 10_130443217_TTA_MSH6 1 1 - - - - Ins 29887ce0-3277-11e6-a862-bc9becf1e924 1_51658555_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 51658555 C CT 360 PASS RP11-296A18.3 Ins downstream 1 7 MSH6 child 1_51658555_CCT_MSH6 1 1 - - - - Ins 298a0ff6-3295-11e6-9985-7c540d016689 6_38230415_CTTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 38230415 CTT C 360 PASS BTBD9 Del intronic 2 4 NUDT1 child 6_38230415_CTTC_NUDT1 2 2 2 TT 2 T Repeat-mediated 298e41d8-3287-11e6-8b67-086ea2c71c31 1_246536406_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 246536406 TA T 300 PASS SMYD3 Del intronic 1 8 MSH6 child 1_246536406_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 298e491c-3255-11e6-8ebc-3ef212ae24cf 15_76643040_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 76643040 GA G 480 PASS SCAPER Del intronic 1 9 MSH6 child 15_76643040_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 298f8e04-3277-11e6-8c34-46e27872c165 5_126491874_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 126491874 CT C 540 PASS - Del - 1 8 MSH6 child 5_126491874_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 29953226-3279-11e6-909e-86e86de4ab00 3_134258534_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 3 134258534 TA T 420 PASS CEP63 Del intronic 1 9 EXO1 child 3_134258534_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 299d3ac2-3286-11e6-9bc8-5079a178171f 15_43150266_CAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 15 43150266 CA C 540 PASS TTBK2 Del intronic 1 9 FANCC child 15_43150266_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 299e92a6-3294-11e6-a2c5-65337a852e0e 5_143773690_ACTATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 5 143773690 ACTAT A 480 PASS KCTD16 Del intronic 4 1 CHK2 child 5_143773690_ACTATA_CHK2 4 4 2 CT 0 - Microhomology-mediated 29ad019a-329b-11e6-b549-1e5325c9da85 10_77657746_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 77657746 AT A 360 PASS C10orf11 Del intronic 1 9 MSH6 child 10_77657746_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 29b8e01e-328c-11e6-b805-77090e01a414 2_193670041_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 193670041 TA T 420 PASS - Del - 1 5 MSH6 child 2_193670041_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 29bdda40-3270-11e6-a0a7-943dc225ee11 1_81290396_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 81290396 CT C 840 PASS - Del - 1 7 EXO1 parent 1_81290396_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 29cd5778-3292-11e6-9809-b7370d016689 13_81193880_CTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 13 81193880 CT C 360 PASS - Del - 1 7 NUDT1 child 13_81193880_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 29d22084-3277-11e6-a71d-236235cec73b X_89772296_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 89772296 TA T 561 PASS - Del - 1 7 MSH6 child X_89772296_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 29dd21ea-3287-11e6-b32c-fd87a2c71c31 5_100156944_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 100156944 GA G 660 PASS ST8SIA4 Del intronic 1 9 MSH6 child 5_100156944_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 29e303e6-3271-11e6-89e3-9dd52aaffa45 10_73950625_GGTGCC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 10 73950625 G GTGCC 467 PASS ASCC1 Ins intronic 4 0 NEIL1 child 10_73950625_GGTGCC_NEIL1 4 4 - - - - Ins 29e52522-32a3-11e6-b970-398625c9da85 20_51545740_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 51545740 GT G 600 PASS - Del - 1 5 MSH6 child 20_51545740_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 29f2636a-3274-11e6-8418-1c5942c4520d 3_196147045_AAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 196147045 A AG 540 PASS UBXN7 Ins intronic 1 6 MSH6 child 3_196147045_AAG_MSH6 1 1 - - - - Ins 29f57628-3287-11e6-b093-c9c7b0dab373 2_225040693_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 225040693 GA G 360 PASS - Del - 1 8 MSH6 child 2_225040693_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2a00c480-328a-11e6-aa70-b0b3cc638e3d 19_47705331_TTGGAAT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 19 47705331 TTGGAA T 780 PASS SAE1 Del intronic 5 1 NUDT1 child 19_47705331_TTGGAAT_NUDT1 5 5 4 TGGA 0 - Microhomology-mediated 2a03840e-328f-11e6-b81f-4ee66f39e758 8_27888775_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 27888775 AT A 360 PASS NUGGC Del frameshift 1 8 MSH6 child 8_27888775_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2a0823b8-328c-11e6-b8e6-91c36f39e758 11_39790307_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 39790307 CA C 300 PASS - Del - 1 7 MSH6 child 11_39790307_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2a133d56-3256-11e6-8ebc-3ef212ae24cf 15_22451186_CCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 22451186 C CG 420 PASS - Ins - 1 3 MSH6 child 15_22451186_CCG_MSH6 1 1 - - - - Ins 2a13a1b2-328b-11e6-a7cf-80090e01a414 15_78721407_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 78721407 AT A 360 PASS - Del - 1 7 MSH6 child 15_78721407_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2a19822e-3256-11e6-b4d0-327a7872c165 11_44047041_CCATACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 44047041 C CATACA 360 PASS - Ins - 5 0 MSH6 child 11_44047041_CCATACA_MSH6 5 5 - - - - Ins 2a1e0da0-3272-11e6-bbeb-70bd19a91649 20_3856861_TCTCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 3856861 TCTC T 300 PASS - Del - 3 2 MSH6 child 20_3856861_TCTCT_MSH6 3 3 3 CTC 1 CTC Repeat-mediated 2a1fe6b4-3288-11e6-a284-4b89a2c71c31 4_150618573_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 150618573 TA T 420 PASS RP11-526A4.1 Del intronic 1 9 MSH6 child 4_150618573_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2a226804-3273-11e6-aa3b-ca60a178171f 13_70873999_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 70873999 GA G 480 PASS - Del - 1 7 MSH6 child 13_70873999_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2a23bef4-328a-11e6-b805-77090e01a414 2_59881485_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 59881485 GA G 540 PASS AC007131.2 Del intronic 1 8 MSH6 child 2_59881485_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2a2d48b8-329c-11e6-a5cf-205325c9da85 11_5842079_CCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 5842079 C CG 360 PASS OR52N2 Ins frameshift 1 4 MSH6 child 11_5842079_CCG_MSH6 1 1 - - - - Ins 2a2fc934-3270-11e6-b89d-b2d6b0dab373 4_44052907_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 44052907 TA T 253 PASS - Del - 1 8 MSH6 child 4_44052907_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2a315a04-3295-11e6-98e0-70dad8b4fa2c 2_21083703_AACCCTTGC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 21083703 A ACCCTTGC 480 PASS - Ins - 7 0 NUDT1 child 2_21083703_AACCCTTGC_NUDT1 7 7 - - - - Ins 2a35f150-3285-11e6-9daa-026ea2c71c31 14_96256333_GCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 96256333 GC G 660 PASS - Del - 1 5 MSH6 child 14_96256333_GCG_MSH6 1 1 1 C 4 C Repeat-mediated 2a3b54a0-3281-11e6-9066-1ba854de4fc4 14_95014628_AGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 14 95014628 AG A 360 PASS - Del - 1 2 FANCC child 14_95014628_AGA_FANCC 1 1 1 G 1 G Repeat-mediated 2a3c73c8-3324-11e6-925b-cca72aaffa45 X_79773428_GAG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA X 79773428 GA G 420 PASS - Del - 1 9 CHK2 child X_79773428_GAG_CHK2 1 1 1 A 8 A Repeat-mediated 2a40e5e0-3322-11e6-881c-c18230158702 10_121935782_AGACAGGCAGAATTTGCATAATTTTGATGGTCTAAAGTAATGTTTTGATTTCACTAATTTATTTCGTAAAGAATTTCTTTTTCTTTTATAACCCACAGTCAACTGCTGTTAGTGTTAAATTTCCATGATGTGGTAATTGGCAAACTCTTGCTAGTTATTTCGGATGGCTCACAATGGGAACTTTCTTCATCTCAGGTTCAAAGTTGTTTCTAGACTGTGTGCACTCGGCATATAGAGAAACGAAGTGCTGAATAGCTATCCAGTTGATTAGGTCATTGTAGGCAGCCAATGTGGGCAATCTGATCCGGTGCTGAGGAACAGTGGGGAAAGAATAATACGAGAAAGAGGCAGGAACCGCAAAGTAACCGAAAGGCCAGGCTTTGAATCTCCTGTATTCCTCCCCTTGGCAGGCTTATTTGCCTGCACATCAAGATCAGTCAACTGTAAGCAATAAAAGAAGTTTTTAGACCAGGCTGGGTTCCCTTAGAAGAGTCAGCCTCCTTGGTGCTGGTGGCTCATATTTGTTCTCTGAGTACCTGGCACTGGCCCCCTAGCCTGCGAGAGATTTAAACTA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 10 121935782 AGACAGGCAGAATTTGCATAATTTTGATGGTCTAAAGTAATGTTTTGATTTCACTAATTTATTTCGTAAAGAATTTCTTTTTCTTTTATAACCCACAGTCAACTGCTGTTAGTGTTAAATTTCCATGATGTGGTAATTGGCAAACTCTTGCTAGTTATTTCGGATGGCTCACAATGGGAACTTTCTTCATCTCAGGTTCAAAGTTGTTTCTAGACTGTGTGCACTCGGCATATAGAGAAACGAAGTGCTGAATAGCTATCCAGTTGATTAGGTCATTGTAGGCAGCCAATGTGGGCAATCTGATCCGGTGCTGAGGAACAGTGGGGAAAGAATAATACGAGAAAGAGGCAGGAACCGCAAAGTAACCGAAAGGCCAGGCTTTGAATCTCCTGTATTCCTCCCCTTGGCAGGCTTATTTGCCTGCACATCAAGATCAGTCAACTGTAAGCAATAAAAGAAGTTTTTAGACCAGGCTGGGTTCCCTTAGAAGAGTCAGCCTCCTTGGTGCTGGTGGCTCATATTTGTTCTCTGAGTACCTGGCACTGGCCCCCTAGCCTGCGAGAGATTTAAACT A 720 PASS - Del - 572 1 POLE child 10_121935782_AGACAGGCAGAATTTGCATAATTTTGATGGTCTAAAGTAATGTTTTGATTTCACTAATTTATTTCGTAAAGAATTTCTTTTTCTTTTATAACCCACAGTCAACTGCTGTTAGTGTTAAATTTCCATGATGTGGTAATTGGCAAACTCTTGCTAGTTATTTCGGATGGCTCACAATGGGAACTTTCTTCATCTCAGGTTCAAAGTTGTTTCTAGACTGTGTGCACTCGGCATATAGAGAAACGAAGTGCTGAATAGCTATCCAGTTGATTAGGTCATTGTAGGCAGCCAATGTGGGCAATCTGATCCGGTGCTGAGGAACAGTGGGGAAAGAATAATACGAGAAAGAGGCAGGAACCGCAAAGTAACCGAAAGGCCAGGCTTTGAATCTCCTGTATTCCTCCCCTTGGCAGGCTTATTTGCCTGCACATCAAGATCAGTCAACTGTAAGCAATAAAAGAAGTTTTTAGACCAGGCTGGGTTCCCTTAGAAGAGTCAGCCTCCTTGGTGCTGGTGGCTCATATTTGTTCTCTGAGTACCTGGCACTGGCCCCCTAGCCTGCGAGAGATTTAAACTA_POLE 572 >=10 3 GAC 0 - Microhomology-mediated 2a47b00e-3283-11e6-aa7b-37792aaffa45 5_11192127_CTGATAACAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 5 11192127 CTGATAACA C 600 PASS CTNND2 Del intronic 8 1 POLE child 5_11192127_CTGATAACAC_POLE 8 8 0 - 0 - None 2a4b10f8-3271-11e6-9c6e-9f402a2d4995 2_216505530_CTC . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 2 216505530 CT C 420 PASS LINC00607 Del intronic 1 3 POLB child 2_216505530_CTC_POLB 1 1 1 T 2 T Repeat-mediated 2a50a608-329e-11e6-8c2e-3f6625c9da85 22_17868711_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 17868711 AT A 480 PASS CECR2 Del intronic 1 9 MSH6 child 22_17868711_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2a66a8bc-3277-11e6-998e-ba48fa52e078 8_112535317_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 112535317 CT C 660 PASS RP11-1101K5.1 Del intronic 1 8 MSH6 child 8_112535317_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2a66db84-3254-11e6-b4d0-327a7872c165 11_42391710_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 42391710 AT A 480 PASS - Del - 1 7 MSH6 child 11_42391710_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2a6c1af0-3276-11e6-88b6-40832aaffa45 1_237518558_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 237518558 AT A 660 PASS RYR2 Del intronic 1 6 EXO1 child 1_237518558_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 2a79382c-3274-11e6-b96a-e20a1ea8ec0e 7_10587563_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 7 10587563 AT A 360 PASS - Del - 1 2 FANCC child 7_10587563_ATA_FANCC 1 1 1 T 1 T Repeat-mediated 2a7a7620-3278-11e6-a391-f6d67d6a9fc7 6_40147653_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 40147653 GA G 420 PASS - Del - 1 1 MSH6 child 6_40147653_GAG_MSH6 1 1 0 - 0 A None 2a80ef26-3257-11e6-aa0b-72f912ae24cf 8_101289548_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 101289548 CT C 900 PASS RNF19A Del intronic 1 9 POLB child 8_101289548_CTC_POLB 1 1 1 T 8 T Repeat-mediated 2a8304da-328b-11e6-a80b-87090e01a414 11_118063975_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 118063975 AT A 300 PASS AMICA1 Del downstream 1 8 MSH6 child 11_118063975_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2a889b0a-328d-11e6-a7cf-80090e01a414 15_65798667_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 65798667 C CA 300 PASS DPP8 Ins intronic 1 8 MSH6 child 15_65798667_CCA_MSH6 1 1 - - - - Ins 2a8b0446-3290-11e6-aefc-4976fc77b11e 22_19493720_CTGC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 22 19493720 CTG C 780 PASS CDC45 Del intronic 2 2 POLE child 22_19493720_CTGC_POLE 2 2 2 TG 1 TG Repeat-mediated 2a8b91a4-326d-11e6-b9f4-5d1d694da5d2 14_58553446_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 58553446 CA C 1080 PASS C14orf37 Del intronic 1 7 MSH6 child 14_58553446_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2a9cce6a-328b-11e6-807d-afc430158702 19_44799402_TAT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 19 44799402 TA T 360 PASS ZNF235 Del intronic 1 8 POLM child 19_44799402_TAT_POLM 1 1 1 A 7 A Repeat-mediated 2aa0b688-3277-11e6-92d2-c259c225ee11 3_58518090_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 58518090 CT C 540 PASS ACOX2 Del intronic 1 9 MSH6 child 3_58518090_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2aafffbe-329d-11e6-a5cf-e5abcc638e3d 9_76240023_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 76240023 GT G 660 PASS - Del - 1 6 MSH6 child 9_76240023_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 2ab29bda-3283-11e6-b8a8-aac02daed38e 8_35842218_GTG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 8 35842218 GT G 360 PASS - Del - 1 6 POLB child 8_35842218_GTG_POLB 1 1 1 T 5 T Repeat-mediated 2ab2f63e-32a1-11e6-b696-dd6225c9da85 5_81241390_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 81241390 C CA 480 PASS - Ins - 1 6 MSH6 child 5_81241390_CCA_MSH6 1 1 - - - - Ins 2abf4fca-3273-11e6-a862-bc9becf1e924 1_45904158_ACTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 45904158 ACT A 540 PASS TESK2 Del intronic 2 2 MSH6 child 1_45904158_ACTA_MSH6 2 2 2 CT 1 CT Repeat-mediated 2ac06966-3271-11e6-8fc7-e8702aaffa45 9_89215884_GAGAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 9 89215884 GAGA G 840 PASS - Del - 3 2 POLM child 9_89215884_GAGAG_POLM 3 3 3 AGA 1 AGA Repeat-mediated 2ac82ea8-3258-11e6-91d3-a68412ae24cf 7_128624881_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 128624881 TA T 600 PASS TNPO3 Del intronic 1 8 MSH6 child 7_128624881_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2ad0c128-3346-11e6-a9cc-a0a270cce0de 2_14139360_GCAATCAGAGAATTCTATGCCTCTGGGTTTATCATTAAATTTGACCCCTTAATAAAAATGGTTATTAATTCTTAAATGAAAAAAAGAATATATAGTCATTATATATATACATGCACCTAACATAAGAGTAGCTAAGATATAAAGCAACTATAAACAAATCTGATGGGAGAAATAGACAAAAATACAATAATAATAGGGAAATTCAGTACCTCACTTTTAAAAATAGATTGATCACCCAGACCTCACTTTTAAAAATAGATTGATCACCCAGACAATATTACTAAGGAAATATTGGATTTGAACTACACTCTAGACG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 14139360 GCAATCAGAGAATTCTATGCCTCTGGGTTTATCATTAAATTTGACCCCTTAATAAAAATGGTTATTAATTCTTAAATGAAAAAAAGAATATATAGTCATTATATATATACATGCACCTAACATAAGAGTAGCTAAGATATAAAGCAACTATAAACAAATCTGATGGGAGAAATAGACAAAAATACAATAATAATAGGGAAATTCAGTACCTCACTTTTAAAAATAGATTGATCACCCAGACCTCACTTTTAAAAATAGATTGATCACCCAGACAATATTACTAAGGAAATATTGGATTTGAACTACACTCTAGAC G 420 PASS LINC00276 Del intronic 314 1 FANCC child 2_14139360_GCAATCAGAGAATTCTATGCCTCTGGGTTTATCATTAAATTTGACCCCTTAATAAAAATGGTTATTAATTCTTAAATGAAAAAAAGAATATATAGTCATTATATATATACATGCACCTAACATAAGAGTAGCTAAGATATAAAGCAACTATAAACAAATCTGATGGGAGAAATAGACAAAAATACAATAATAATAGGGAAATTCAGTACCTCACTTTTAAAAATAGATTGATCACCCAGACCTCACTTTTAAAAATAGATTGATCACCCAGACAATATTACTAAGGAAATATTGGATTTGAACTACACTCTAGACG_FANCC 314 >=10 3 CAA 0 - Microhomology-mediated 2ad2020e-3323-11e6-a8ef-bb593dc9300a 2_231589990_GTG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 2 231589990 GT G 408 PASS CAB39 Del intronic 1 1 CHK2 child 2_231589990_GTG_CHK2 1 1 0 - 0 T None 2ad49fe8-329f-11e6-b696-dd6225c9da85 5_136751441_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 136751441 GA G 540 PASS SPOCK1 Del intronic 1 7 MSH6 child 5_136751441_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2ade2bd4-32a0-11e6-a04f-c66a25c9da85 6_53160986_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 53160986 TA T 480 PASS ELOVL5 Del intronic 1 9 MSH6 child 6_53160986_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2ae77772-3271-11e6-aca7-e2b6dcd214c4 5_925852_TTCTCT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 5 925852 TTCTC T 780 PASS - Del - 4 2 POLM child 5_925852_TTCTCT_POLM 4 4 1 T 0 - Microhomology-mediated 2af28ab0-328d-11e6-9c89-8d090e01a414 1_229814072_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 229814072 AT A 480 PASS - Del - 1 7 MSH6 child 1_229814072_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2af4157a-327d-11e6-8c6a-eb8590e2c2e6 10_74712340_CGTTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 10 74712340 CGTT C 420 PASS PLA2G12B Del intronic 3 2 NUDT1 child 10_74712340_CGTTC_NUDT1 3 3 3 GTT 1 GTT Repeat-mediated 2afb26fc-3256-11e6-9d5a-0c8112ae24cf 9_22333982_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 22333982 CA C 600 PASS - Del - 1 6 MSH6 child 9_22333982_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 2b09052e-328d-11e6-bd84-429305ad5bc4 1_220042165_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 220042165 GA G 473 PASS - Del - 1 6 MSH6 child 1_220042165_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 2b2420f4-329a-11e6-aca6-b39fcc638e3d 2_27767831_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 27767831 CA C 780 PASS - Del - 1 7 MSH6 child 2_27767831_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2b26b1da-328f-11e6-9d24-ade56f39e758 7_39172418_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 39172418 AT A 720 PASS POU6F2 Del intronic 1 9 MSH6 child 7_39172418_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2b2808cc-326d-11e6-acc7-e55219a91649 1_62829347_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 62829347 CA C 300 PASS - Del - 1 7 MSH6 child 1_62829347_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2b2c07c2-3274-11e6-a862-bc9becf1e924 1_115635600_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 115635600 AT A 660 PASS TSPAN2 Del upstream 1 9 MSH6 child 1_115635600_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2b3e08d8-3273-11e6-8053-90fc1da8ec0e 9_30423677_CTTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 9 30423677 CTT C 600 PASS - Del - 2 3 POLB child 9_30423677_CTTC_POLB 2 2 1 T 0 - Microhomology-mediated 2b44db60-328f-11e6-bec1-ca1d0e01a414 X_153526265_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 153526265 AT A 600 PASS TKTL1 Del intronic 1 9 MSH6 child X_153526265_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2b49c776-3274-11e6-bf90-64cd7872c165 6_29807978_ATA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 6 29807978 AT A 540 PASS - Del - 1 9 POLM child 6_29807978_ATA_POLM 1 1 1 T 8 T Repeat-mediated 2b5b76fa-3289-11e6-a5b3-3f1ebce6aa09 7_100753195_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 100753195 T TA 420 PASS - Ins - 1 6 MSH6 child 7_100753195_TTA_MSH6 1 1 - - - - Ins 2b5f96ea-328e-11e6-bec1-ca1d0e01a414 X_72691642_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 72691642 AT A 300 PASS - Del - 1 7 MSH6 child X_72691642_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2b666fd4-328d-11e6-b9c4-751d0e01a414 5_56723933_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 56723933 CT C 300 PASS - Del - 1 7 MSH6 child 5_56723933_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 2b6c2342-3324-11e6-be49-204207e9a829 1_236764876_CAGGC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 1 236764876 CAGG C 420 PASS HEATR1 Del intronic 3 2 POLE child 1_236764876_CAGGC_POLE 3 3 3 AGG 1 AGG Repeat-mediated 2b6d8aaa-3326-11e6-bd60-7fd335cec73b 8_103479675_GTG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 8 103479675 GT G 1440 PASS - Del - 1 9 CHK2 child 8_103479675_GTG_CHK2 1 1 1 T 8 T Repeat-mediated 2b712220-328e-11e6-bfa2-581f0e01a414 7_89695635_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 89695635 AG A 420 PASS - Del - 1 1 MSH6 child 7_89695635_AGA_MSH6 1 1 0 - 0 G None 2b719114-3271-11e6-b89d-b2d6b0dab373 4_113615428_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 113615428 TA T 540 PASS RP11-148B6.2 Del intronic 1 6 MSH6 child 4_113615428_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 2b71fb94-3295-11e6-a718-6f48a178171f 2_201041781_GAG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 2 201041781 GA G 540 PASS - Del - 1 7 POLB child 2_201041781_GAG_POLB 1 1 1 A 6 A Repeat-mediated 2b782c5a-3257-11e6-aa0b-72f912ae24cf 8_101720534_ATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACCTGAACCCGGGAGGTGAAAGCTGCAGTAAGCCAAGACCATGCCACTGCACTCCAGACTAGAAGAAAGAGTGAGACTCTGTCTAAAAAAATAAACTCTAAGTGCTCTTGGAATATAACATACTGTTCCACAGGACAAGACATAAAATACCACGACTCTGATTCTCATACATGATTAAATGGAACGAGACCTTTAAAACTGTGGCCTGACAAAATATGAAATTGGCTGGGTGCCATGGCTCACGCCTGTACTCTCAACACTTTAGGAGGCTGAGGTGGGCAGATGACCTGAGATCAGGAGCTCAAGACAACCCTGGCCAACGTGGTCAAACCCCATCTCTACTAATAATGCGTAAGA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 101720534 ATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACCTGAACCCGGGAGGTGAAAGCTGCAGTAAGCCAAGACCATGCCACTGCACTCCAGACTAGAAGAAAGAGTGAGACTCTGTCTAAAAAAATAAACTCTAAGTGCTCTTGGAATATAACATACTGTTCCACAGGACAAGACATAAAATACCACGACTCTGATTCTCATACATGATTAAATGGAACGAGACCTTTAAAACTGTGGCCTGACAAAATATGAAATTGGCTGGGTGCCATGGCTCACGCCTGTACTCTCAACACTTTAGGAGGCTGAGGTGGGCAGATGACCTGAGATCAGGAGCTCAAGACAACCCTGGCCAACGTGGTCAAACCCCATCTCTACTAATAATGCGTAAG A 255 PASS PABPC1 Del intronic 420 1 POLB child 8_101720534_ATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACCTGAACCCGGGAGGTGAAAGCTGCAGTAAGCCAAGACCATGCCACTGCACTCCAGACTAGAAGAAAGAGTGAGACTCTGTCTAAAAAAATAAACTCTAAGTGCTCTTGGAATATAACATACTGTTCCACAGGACAAGACATAAAATACCACGACTCTGATTCTCATACATGATTAAATGGAACGAGACCTTTAAAACTGTGGCCTGACAAAATATGAAATTGGCTGGGTGCCATGGCTCACGCCTGTACTCTCAACACTTTAGGAGGCTGAGGTGGGCAGATGACCTGAGATCAGGAGCTCAAGACAACCCTGGCCAACGTGGTCAAACCCCATCTCTACTAATAATGCGTAAGA_POLB 420 >=10 19 TTAGCTGGGCGTGGTGGCG 0 - Microhomology-mediated 2b78ec2a-3258-11e6-885f-d1947872c165 4_143457286_AGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 143457286 AG A 420 PASS INPP4B Del intronic 1 5 MSH6 child 4_143457286_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 2b82a6b6-326c-11e6-afba-5998cab49462 19_5893742_GAGAG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 19 5893742 GAGA G 540 PASS NDUFA11 Del intronic 3 1 POLM parent 19_5893742_GAGAG_POLM 3 3 2 AG 0 - Microhomology-mediated 2b844a98-3285-11e6-9162-c3af90e2c2e6 2_114659652_ATACTA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 2 114659652 ATACT A 480 PASS ACTR3 Del intronic 4 2 POLE child 2_114659652_ATACTA_POLE 4 4 4 TACT 1 TACT Repeat-mediated 2b84f852-3290-11e6-9d24-ade56f39e758 7_103042641_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 103042641 CT C 360 PASS SLC26A5 Del intronic 1 8 MSH6 child 7_103042641_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2b8ed712-328d-11e6-8eee-76090e01a414 10_121663055_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 121663055 T TA 480 PASS SEC23IP Ins intronic 1 7 MSH6 child 10_121663055_TTA_MSH6 1 1 - - - - Ins 2b90ca46-3278-11e6-a3f9-4821ead19ece 3_3266722_AAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 3 3266722 A AT 360 PASS - Ins - 1 9 NEIL1 child 3_3266722_AAT_NEIL1 1 1 - - - - Ins 2b92ca48-328d-11e6-bd84-429305ad5bc4 1_220478125_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 220478125 TA T 480 PASS - Del - 1 9 MSH6 child 1_220478125_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2b96c36c-3299-11e6-90ba-2866a178171f 5_106612397_GGAGGC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 5 106612397 G GAGGC 360 PASS - Ins - 4 0 NEIL1 child 5_106612397_GGAGGC_NEIL1 4 4 - - - - Ins 2b9a49aa-3281-11e6-b9fb-4420bce6aa09 9_31863043_CTTGC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 9 31863043 CTTG C 420 PASS - Del - 3 2 POLM child 9_31863043_CTTGC_POLM 3 3 3 TTG 1 TTG Repeat-mediated 2b9b8478-3295-11e6-8ff8-970ab51afd22 X_53643910_AAATA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA X 53643910 AAAT A 480 PASS HUWE1 Del intronic 3 1 NEIL1 child X_53643910_AAATA_NEIL1 3 3 2 AA 0 - Microhomology-mediated 2ba8704a-3275-11e6-998e-ba48fa52e078 8_10478116_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 10478116 CA C 480 PASS RP1L1 Del intronic 1 9 MSH6 child 8_10478116_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2bb4a3be-3276-11e6-a5d0-4fd14a47a305 2_67116288_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 67116288 C CA 480 PASS - Ins - 1 1 MSH6 child 2_67116288_CCA_MSH6 1 1 - - - - Ins 2bb7f1aa-3270-11e6-b6d2-cf4066a58581 10_80156650_AACA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 10 80156650 AAC A 420 PASS - Del - 2 1 POLB child 10_80156650_AACA_POLB 2 2 1 A 0 - Microhomology-mediated 2bcafd8e-3259-11e6-9cd8-27f912ae24cf 7_143089913_TTA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 7 143089913 T TA 780 PASS EPHA1 Ins intronic 1 1 POLB child 7_143089913_TTA_POLB 1 1 - - - - Ins 2bcd6656-3258-11e6-91d3-a68412ae24cf 7_128810923_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 128810923 AT A 840 PASS TSPAN33 Del downstream 1 3 MSH6 child 7_128810923_ATA_MSH6 1 1 1 T 2 T Repeat-mediated 2bda2d00-3276-11e6-bf4d-b5224ec77248 8_10654189_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 8 10654189 AT A 660 PASS PINX1 Del intronic 1 6 EXO1 child 8_10654189_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 2be5f8c2-3291-11e6-b3a9-d5afe7d0bdd7 4_102374470_TTGGCCAGGCTGGTCTTTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 102374470 TTGGCCAGGCTGGTCTTTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCC T 300 PASS BANK1 Del intronic 315 1 FANCC child 4_102374470_TTGGCCAGGCTGGTCTTTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCT_FANCC 315 >=10 16 TGGCCAGGCTGGTCTT 0 - Microhomology-mediated 2beb3204-329d-11e6-ae71-0c5325c9da85 1_194015694_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 194015694 TA T 660 PASS - Del - 1 9 MSH6 child 1_194015694_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2bfbc554-3295-11e6-9401-04ed6f39e758 3_170949118_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 170949118 G GT 300 PASS TNIK Ins intronic 1 6 MSH6 child 3_170949118_GGT_MSH6 1 1 - - - - Ins 2bfe60d8-3278-11e6-a1d0-c9e56de4ab00 4_133668772_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 4 133668772 AT A 480 PASS - Del - 1 9 NEIL1 child 4_133668772_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 2c0470f0-329f-11e6-b696-dd6225c9da85 5_136999744_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 136999744 TA T 480 PASS KLHL3 Del intronic 1 5 MSH6 child 5_136999744_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 2c08e63a-3272-11e6-bbeb-70bd19a91649 20_4399898_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 4399898 CT C 295 PASS - Del - 1 7 MSH6 child 20_4399898_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 2c0b9d52-3282-11e6-a363-a68d191589db 2_211242105_GAG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 2 211242105 GA G 480 PASS - Del - 1 9 POLM child 2_211242105_GAG_POLM 1 1 1 A 8 A Repeat-mediated 2c0d040a-3258-11e6-acc5-308412ae24cf 5_130627185_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 130627185 CT C 660 PASS CDC42SE2 Del intronic 1 8 MSH6 child 5_130627185_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2c0d414e-3272-11e6-a623-9985cdacbbbf 17_33141408_TCT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 17 33141408 TC T 480 PASS - Del - 1 2 NUDT1 child 17_33141408_TCT_NUDT1 1 1 1 C 1 C Repeat-mediated 2c24c258-3324-11e6-a066-657f12ae24cf X_72821586_CAC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA X 72821586 CA C 283 PASS CHIC1 Del intronic 1 6 POLE child X_72821586_CAC_POLE 1 1 1 A 5 A Repeat-mediated 2c2b06fa-3256-11e6-bf41-357a7872c165 10_38296583_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 38296583 A AT 540 PASS ZNF33A Ins upstream 1 1 MSH6 child 10_38296583_AAT_MSH6 1 1 - - - - Ins 2c365212-3288-11e6-a284-4b89a2c71c31 4_151325183_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 151325183 CA C 660 PASS LRBA Del intronic 1 9 MSH6 child 4_151325183_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2c3a8b90-326d-11e6-adc2-b7204b47a305 18_47876364_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 47876364 GT G 320 PASS - Del - 1 9 MSH6 child 18_47876364_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 2c40666e-326d-11e6-b9f4-5d1d694da5d2 14_58799157_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 58799157 CT C 480 PASS ARID4A Del intronic 1 5 MSH6 child 14_58799157_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 2c40d5ae-3286-11e6-afcf-0311bce6aa09 9_35561761_GCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 35561761 GC G 420 PASS RUSC2 Del 3prime_UTR_variant 1 6 MSH6 child 9_35561761_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 2c419ae4-328a-11e6-a80b-87090e01a414 11_58621656_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 58621656 AT A 300 PASS - Del - 1 5 MSH6 child 11_58621656_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 2c5338b6-3277-11e6-9e0f-7959cab49462 7_112895580_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 112895580 AT A 300 PASS - Del - 1 8 MSH6 child 7_112895580_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2c57a026-326e-11e6-92dd-fda8977b3f23 10_114321769_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 114321769 CT C 300 PASS VTI1A Del intronic 1 8 MSH6 child 10_114321769_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2c61134a-3287-11e6-8358-6179a178171f 17_78481102_ACCACTGCACTCCAGCCTGGGCAAGAGAGCAGGAAAACGCCTCCCCCAGCATACACAAAGGAAGGAAATTCTGACTCGTGCTACAACATGGATGAATCTCAAGACATGCTAAGTGAAATAAGCCAGTCGCTGGCCGGGGGTGGTAGCTCATACCTGTAATTCCAACACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGATTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCCACCAAAAAATACAAAAACAAACAAAACAAACAAAACAATTAGCCAGATTTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGATGCATGAGAATCACTTGAACCCTGGAGGCGGAGGCAACAGTGAACCGAGATTGTGA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 17 78481102 ACCACTGCACTCCAGCCTGGGCAAGAGAGCAGGAAAACGCCTCCCCCAGCATACACAAAGGAAGGAAATTCTGACTCGTGCTACAACATGGATGAATCTCAAGACATGCTAAGTGAAATAAGCCAGTCGCTGGCCGGGGGTGGTAGCTCATACCTGTAATTCCAACACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGATTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCCACCAAAAAATACAAAAACAAACAAAACAAACAAAACAATTAGCCAGATTTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGATGCATGAGAATCACTTGAACCCTGGAGGCGGAGGCAACAGTGAACCGAGATTGTG A 360 PASS - Del - 392 1 FANCC child 17_78481102_ACCACTGCACTCCAGCCTGGGCAAGAGAGCAGGAAAACGCCTCCCCCAGCATACACAAAGGAAGGAAATTCTGACTCGTGCTACAACATGGATGAATCTCAAGACATGCTAAGTGAAATAAGCCAGTCGCTGGCCGGGGGTGGTAGCTCATACCTGTAATTCCAACACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGATTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCCACCAAAAAATACAAAAACAAACAAAACAAACAAAACAATTAGCCAGATTTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGATGCATGAGAATCACTTGAACCCTGGAGGCGGAGGCAACAGTGAACCGAGATTGTGA_FANCC 392 >=10 23 CCACTGCACTCCAGCCTGGGCAA 0 - Microhomology-mediated 2c63ad26-325a-11e6-a304-347a7872c165 1_220830926_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 220830926 C CA 1020 PASS MARK1 Ins intronic 1 4 MSH6 child 1_220830926_CCA_MSH6 1 1 - - - - Ins 2c64bbac-327e-11e6-8a95-4ae6b41afd22 X_30183940_GATACACCATAATGCATGTACACG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA X 30183940 GATACACCATAATGCATGTACAC G 720 PASS - Del - 22 1 POLM child X_30183940_GATACACCATAATGCATGTACACG_POLM 22 >=10 3 ATA 0 - Microhomology-mediated 2c67bf3e-3281-11e6-ab87-22bd9b6d3b88 10_55602794_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 10 55602794 TA T 780 PASS PCDH15 Del intronic 1 8 EXO1 child 10_55602794_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 2c725c90-328c-11e6-8952-77c36f39e758 10_35848333_GGAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 35848333 GGA G 960 PASS CCNY Del intronic 2 5 MSH6 child 10_35848333_GGAG_MSH6 2 2 2 GA 4 GA Repeat-mediated 2c7f7e28-328e-11e6-9e88-ed4438e8a824 6_18559312_AAC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 6 18559312 A AC 660 PASS - Ins - 1 1 NUDT1 parent 6_18559312_AAC_NUDT1 1 1 - - - - Ins 2c8283a4-3255-11e6-a304-347a7872c165 1_105373269_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 105373269 CA C 480 PASS - Del - 1 9 MSH6 child 1_105373269_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 2c877d3c-3278-11e6-a391-f6d67d6a9fc7 6_41072432_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 41072432 GA G 540 PASS NFYA Del downstream 1 8 MSH6 child 6_41072432_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2c8ff7c4-3277-11e6-a71d-236235cec73b X_91069458_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 91069458 GA G 500 PASS PCDH11X Del intronic 1 8 MSH6 child X_91069458_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2c9885d8-3281-11e6-afd6-7a186ee4ab00 7_103063096_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 7 103063096 TA T 420 PASS SLC26A5 Del intronic 1 8 POLB parent 7_103063096_TAT_POLB 1 1 1 A 7 A Repeat-mediated 2c98c138-3277-11e6-90a5-ccdb6de4ab00 2_69203442_CCT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 2 69203442 C CT 360 PASS GKN1 Ins intronic 1 8 CHK2 child 2_69203442_CCT_CHK2 1 1 - - - - Ins 2c9bb8b4-328d-11e6-8952-77c36f39e758 10_105082269_ATTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 105082269 ATT A 420 PASS PCGF6 Del intronic 2 4 MSH6 child 10_105082269_ATTA_MSH6 2 2 2 TT 2 T Repeat-mediated 2cb597ee-328c-11e6-88c1-95c36f39e758 14_58734414_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 58734414 AT A 540 PASS PSMA3 Del intronic 1 6 MSH6 child 14_58734414_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 2cb5df16-3286-11e6-a1ac-fd6da2c71c31 13_80682773_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 80682773 T TA 780 PASS - Ins - 1 6 MSH6 child 13_80682773_TTA_MSH6 1 1 - - - - Ins 2cbd4394-328d-11e6-bfa2-581f0e01a414 7_29356517_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 29356517 TA T 360 PASS CHN2 Del intronic 1 9 MSH6 child 7_29356517_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2cbdf290-328c-11e6-8256-94c36f39e758 17_32950005_TGAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 32950005 TGA T 300 PASS TMEM132E Del intronic 2 7 MSH6 child 17_32950005_TGAT_MSH6 2 2 2 GA 6 GA Repeat-mediated 2cdc7394-328e-11e6-8353-a446fd44d094 1_246063113_CCA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 246063113 C CA 660 PASS SMYD3 Ins intronic 1 3 FANCC child 1_246063113_CCA_FANCC 1 1 - - - - Ins 2ce16620-3283-11e6-b933-8181c042253c 10_118833862_ATTCA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 10 118833862 ATTC A 540 PASS KIAA1598 Del intronic 3 2 FANCC child 10_118833862_ATTCA_FANCC 3 3 3 TTC 1 TTC Repeat-mediated 2ce602fc-3288-11e6-8d5e-ed19987b3f23 3_13380494_GGA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 3 13380494 G GA 480 PASS NUP210 Ins intronic 1 7 NEIL1 parent 3_13380494_GGA_NEIL1 1 1 - - - - Ins 2ceabdf0-3257-11e6-acc5-308412ae24cf 5_53305232_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 53305232 GT G 300 PASS ARL15 Del intronic 1 7 MSH6 child 5_53305232_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 2cecc4a6-328e-11e6-94e1-63e1191589db 3_62321845_GTGCATATTTATTTG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 62321845 GTGCATATTTATTT G 600 PASS C3orf14 Del 3prime_UTR_variant 13 1 FANCC child 3_62321845_GTGCATATTTATTTG_FANCC 13 >=10 2 TG 0 - Microhomology-mediated 2cf2e77c-3271-11e6-9303-36f41da8ec0e 14_46699392_CATC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 14 46699392 CAT C 300 PASS LINC00871 Del intronic 2 1 FANCC child 14_46699392_CATC_FANCC 2 2 1 A 0 - Microhomology-mediated 2cf4b398-32a0-11e6-bc66-17b4cc638e3d 8_87245874_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 87245874 CA C 720 PASS SLC7A13 Del upstream 1 7 MSH6 child 8_87245874_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2d0e9888-3275-11e6-bfd3-a6593dc9300a X_9789906_ACTA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA X 9789906 ACT A 300 PASS SHROOM2 Del intronic 2 2 EXO1 child X_9789906_ACTA_EXO1 2 2 2 CT 1 CT Repeat-mediated 2d0ea7ec-328e-11e6-bfa2-581f0e01a414 7_90001098_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 90001098 AT A 420 PASS GTPBP10 Del intronic 1 9 MSH6 child 7_90001098_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2d1dacb2-328c-11e6-ae4c-6bbfcc638e3d 7_47186859_AGA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 7 47186859 AG A 360 PASS - Del - 1 7 NUDT1 child 7_47186859_AGA_NUDT1 1 1 1 G 6 G Repeat-mediated 2d1e535c-328b-11e6-a70a-47793adbad45 3_151745721_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 151745721 TA T 600 PASS - Del - 1 8 NUDT1 parent 3_151745721_TAT_NUDT1 1 1 1 A 7 A Repeat-mediated 2d21fa24-3255-11e6-8ebc-3ef212ae24cf 15_76952793_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 76952793 GA G 600 PASS SCAPER Del intronic 1 7 MSH6 child 15_76952793_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2d26eb10-3291-11e6-b77d-2eef6f39e758 6_42321348_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 42321348 GA G 480 PASS TRERF1 Del intronic 1 9 MSH6 child 6_42321348_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 2d29b6fa-32a1-11e6-aea7-956725c9da85 3_181949713_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 181949713 GA G 600 PASS - Del - 1 5 MSH6 child 3_181949713_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 2d3247cc-3290-11e6-ae53-96c36f39e758 15_89396569_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 89396569 T TA 660 PASS ACAN Ins intronic 1 7 MSH6 child 15_89396569_TTA_MSH6 1 1 - - - - Ins 2d543dec-328f-11e6-bd90-978e3adbad45 12_76266804_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 12 76266804 CT C 660 PASS RP11-114H23.1 Del intronic 1 7 NEIL1 child 12_76266804_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 2d5d452a-3255-11e6-b4d0-327a7872c165 11_111475132_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 111475132 AT A 780 PASS SIK2 Del intronic 1 7 MSH6 child 11_111475132_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2d5dbc94-3291-11e6-b77d-2eef6f39e758 6_42399469_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 42399469 CA C 360 PASS TRERF1 Del intronic 1 2 MSH6 child 6_42399469_CAC_MSH6 1 1 1 A 1 A Repeat-mediated 2d613c0e-3294-11e6-a488-425730158702 21_9890056_ATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 21 9890056 AT A 283 PASS - Del - 1 8 NUDT1 child 21_9890056_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 2d681a7a-3270-11e6-92dd-fda8977b3f23 10_131966717_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 131966717 A AT 360 PASS GLRX3 Ins intronic 1 8 MSH6 child 10_131966717_AAT_MSH6 1 1 - - - - Ins 2d726284-3291-11e6-9401-04ed6f39e758 3_80903206_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 80903206 TA T 780 PASS - Del - 1 9 MSH6 child 3_80903206_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2d7eb07a-3287-11e6-b32c-fd87a2c71c31 5_102113239_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 102113239 GA G 360 PASS PAM Del intronic 1 8 MSH6 child 5_102113239_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2d8006bc-328e-11e6-b6a6-1f1e0e01a414 4_107234048_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 107234048 TA T 420 PASS TBCK Del intronic 1 7 MSH6 child 4_107234048_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 2d800dd2-3285-11e6-a1ac-fd6da2c71c31 13_92714404_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 92714404 AT A 540 PASS GPC5 Del intronic 1 7 MSH6 child 13_92714404_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2d81b2da-3290-11e6-b10a-17a5e7d0bdd7 1_212611542_TTTCT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 1 212611542 TTTC T 360 PASS NENF Del intronic 3 2 FANCC child 1_212611542_TTTCT_FANCC 3 3 3 TTC 1 TTC Repeat-mediated 2d874984-329a-11e6-8d0f-075325c9da85 14_37732062_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 37732062 AC A 420 PASS MIPOL1 Del intronic 1 7 MSH6 child 14_37732062_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 2d8e5df2-3293-11e6-b81f-4ee66f39e758 8_91582210_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 91582210 C CA 300 PASS LINC00534 Ins downstream 1 9 MSH6 child 8_91582210_CCA_MSH6 1 1 - - - - Ins 2d9bfa4c-328a-11e6-a100-84090e01a414 18_61283765_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 61283765 CA C 360 PASS - Del - 1 5 MSH6 child 18_61283765_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 2da10886-329c-11e6-aca6-b39fcc638e3d 2_158339156_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 158339156 GA G 660 PASS CYTIP Del intronic 1 8 MSH6 child 2_158339156_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2dbda026-329d-11e6-a5cf-e5abcc638e3d 9_77035879_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 77035879 CT C 480 PASS - Del - 1 8 MSH6 child 9_77035879_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2dbf1f26-3290-11e6-92cf-bf2a0e01a414 6_88829694_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 88829694 CT C 300 PASS - Del - 1 8 MSH6 child 6_88829694_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2dc18cc8-3274-11e6-a5d0-4fd14a47a305 2_158844031_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 158844031 CA C 480 PASS UPP2 Del intronic 1 8 MSH6 child 2_158844031_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 2dc221e0-3320-11e6-ba61-18773adbad45 13_28038388_TAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 13 28038388 TA T 660 PASS - Del - 1 8 CHK2 child 13_28038388_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 2dc533de-329a-11e6-b129-195325c9da85 16_17281648_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 17281648 TA T 600 PASS XYLT1 Del intronic 1 9 MSH6 child 16_17281648_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2dc8761c-3271-11e6-b5b8-e0c24a47a305 X_122274008_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 122274008 CT C 300 PASS - Del - 1 9 MSH6 child X_122274008_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2dccf3a2-32a0-11e6-ae71-0c5325c9da85 1_106836774_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 106836774 T TA 720 PASS - Ins - 1 6 MSH6 child 1_106836774_TTA_MSH6 1 1 - - - - Ins 2ddd492c-328d-11e6-b8e6-91c36f39e758 11_108760129_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 108760129 CT C 480 PASS DDX10 Del intronic 1 7 MSH6 child 11_108760129_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 2de53844-326f-11e6-9fba-41ebd8b4fa2c 11_94532231_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 94532231 AT A 480 PASS AMOTL1 Del intronic 1 9 MSH6 child 11_94532231_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2dea6e4c-3277-11e6-92d2-c259c225ee11 3_59777058_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 59777058 TG T 480 PASS FHIT Del intronic 1 5 MSH6 child 3_59777058_TGT_MSH6 1 1 1 G 4 G Repeat-mediated 2ded3b2e-327a-11e6-8c34-46e27872c165 5_166324604_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 166324604 A AT 540 PASS - Ins - 1 5 MSH6 child 5_166324604_AAT_MSH6 1 1 - - - - Ins 2dfd73c6-3271-11e6-9309-bdc34a47a305 8_97126479_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 97126479 GA G 537 PASS - Del - 1 5 MSH6 child 8_97126479_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 2e00f572-3290-11e6-a83a-f948aa5f95ce 1_101118807_GGA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 1 101118807 G GA 300 PASS - Ins - 1 6 POLM child 1_101118807_GGA_POLM 1 1 - - - - Ins 2e016dac-327e-11e6-aa5e-d58054de4fc4 18_42009341_TAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 18 42009341 TA T 360 PASS CTC-782O7.1 Del intronic 1 8 NEIL1 child 18_42009341_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 2e029770-328f-11e6-8f31-bfe16f39e758 9_107235515_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 107235515 AT A 420 PASS - Del - 1 7 MSH6 child 9_107235515_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 2e076cf2-3274-11e6-9ef9-d85a25c9da85 3_121164150_GTG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 3 121164150 GT G 480 PASS POLQ Del intronic 1 7 POLM child 3_121164150_GTG_POLM 1 1 1 T 6 T Repeat-mediated 2e07f77c-3291-11e6-8c3d-0ab4e7d0bdd7 3_13062171_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 13062171 CT C 480 PASS IQSEC1 Del intronic 1 8 FANCC child 3_13062171_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 2e0d6f1c-328d-11e6-bd84-429305ad5bc4 1_221931735_CAAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 221931735 CAA C 780 PASS - Del - 2 3 MSH6 child 1_221931735_CAAC_MSH6 2 2 1 A 0 - Microhomology-mediated 2e124286-328c-11e6-ae53-96c36f39e758 15_52941479_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 52941479 GA G 360 PASS FAM214A Del intronic 1 7 MSH6 child 15_52941479_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 2e1c1070-327a-11e6-ab1d-16d9ecf1e924 20_23364317_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 23364317 TA T 360 PASS NAPB Del intronic 1 7 MSH6 child 20_23364317_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 2e214d48-325b-11e6-8b28-55ad7872c165 20_41313069_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 41313069 GA G 960 PASS PTPRT Del intronic 1 6 MSH6 child 20_41313069_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 2e23ec20-328c-11e6-88c1-95c36f39e758 14_58983126_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 58983126 GA G 540 PASS KIAA0586 Del intronic 1 9 MSH6 child 14_58983126_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 2e3435ec-3275-11e6-a862-bc9becf1e924 1_188892089_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 188892089 TA T 300 PASS - Del - 1 7 MSH6 child 1_188892089_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 2e394876-3256-11e6-a0fc-e737fa52e078 2_170378425_TAT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 2 170378425 TA T 480 PASS KLHL41 Del intronic 1 9 POLM child 2_170378425_TAT_POLM 1 1 1 A 8 A Repeat-mediated 2e3a1e06-328b-11e6-9c89-8d090e01a414 1_109055379_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 109055379 AT A 300 PASS - Del - 1 5 MSH6 child 1_109055379_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 2e3af030-32a2-11e6-bc2c-2a5e25c9da85 4_143753455_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 143753455 G GA 540 PASS INPP4B Ins intronic 1 8 MSH6 child 4_143753455_GGA_MSH6 1 1 - - - - Ins 2e3d3c28-328e-11e6-9230-fb250e01a414 3_18943282_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 18943282 CT C 360 PASS - Del - 1 8 MSH6 child 3_18943282_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2e509492-3286-11e6-b1ba-6def1da8ec0e 1_183399294_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 183399294 AT A 420 PASS - Del - 1 3 EXO1 child 1_183399294_ATA_EXO1 1 1 1 T 2 T Repeat-mediated 2e53d0e6-3275-11e6-a5d0-4fd14a47a305 2_238696720_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 238696720 AT A 660 PASS - Del - 1 8 MSH6 child 2_238696720_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2e5d139e-3285-11e6-9daa-026ea2c71c31 14_98144114_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 98144114 CA C 292 PASS RP11-76E12.1 Del intronic 1 7 MSH6 child 14_98144114_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2e640512-3287-11e6-8b67-086ea2c71c31 1_247925274_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 247925274 CA C 300 PASS OR1C1 Del upstream 1 4 MSH6 child 1_247925274_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 2e6cad26-3254-11e6-a4a7-35f212ae24cf 14_60847366_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 60847366 CA C 360 PASS - Del - 1 8 MSH6 child 14_60847366_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 2e729a50-3291-11e6-b81f-4ee66f39e758 8_99980723_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 99980723 GA G 600 PASS RP11-44N12.2 Del downstream 1 8 MSH6 child 8_99980723_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2e827f5a-328d-11e6-8621-65d8191589db 4_84398455_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 84398455 GA G 300 PASS FAM175A Del intronic 1 8 FANCC child 4_84398455_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 2e828d2a-328c-11e6-8106-81c36f39e758 19_35634961_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 35634961 GA G 840 PASS FXYD7 Del intronic 1 9 MSH6 child 19_35634961_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 2e845534-326d-11e6-b2ac-b6204b47a305 17_34833483_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 34833483 TA T 300 PASS - Del - 1 9 MSH6 child 17_34833483_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2e93d3b8-3297-11e6-9a4d-bd1ec7271a47 17_62652063_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 17 62652063 TA T 420 PASS SMURF2 Del intronic 1 8 CHK2 child 17_62652063_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 2e9e9a92-334a-11e6-be18-768ca20b69d5 3_97635732_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 97635732 TA T 300 PASS CRYBG3 Del intronic 1 8 FANCC child 3_97635732_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 2e9f7c10-328b-11e6-a8ac-a28ea2c71c31 3_170658337_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 170658337 C CT 360 PASS - Ins - 1 5 MSH6 child 3_170658337_CCT_MSH6 1 1 - - - - Ins 2ea72086-3273-11e6-a390-fc104530f757 1_163942431_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 163942431 CT C 660 PASS - Del - 1 5 FANCC child 1_163942431_CTC_FANCC 1 1 1 T 4 T Repeat-mediated 2eb0f028-3324-11e6-925b-cca72aaffa45 X_81362179_TAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA X 81362179 TA T 300 PASS - Del - 1 7 CHK2 child X_81362179_TAT_CHK2 1 1 1 A 6 A Repeat-mediated 2eb48a6e-3287-11e6-b32c-fd87a2c71c31 5_102896833_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 102896833 AT A 480 PASS NUDT12 Del intronic 1 9 MSH6 child 5_102896833_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2ece8dc8-326f-11e6-a539-0e5542c4520d 7_8735055_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 8735055 GT G 420 PASS NXPH1 Del intronic 1 8 MSH6 child 7_8735055_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 2ed89e90-3278-11e6-9972-dabcecf1e924 3_56350643_TACT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 3 56350643 TAC T 480 PASS ERC2 Del intronic 2 7 NEIL1 child 3_56350643_TACT_NEIL1 2 2 2 AC 6 AC Repeat-mediated 2ed9a3de-326f-11e6-b306-b5204b47a305 2_227742692_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 227742692 TA T 420 PASS RHBDD1 Del intronic 1 8 MSH6 child 2_227742692_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2eeb5620-3291-11e6-92cf-bf2a0e01a414 6_152975173_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 152975173 AG A 480 PASS - Del - 1 2 MSH6 child 6_152975173_AGA_MSH6 1 1 1 G 1 G Repeat-mediated 2eec21d0-3346-11e6-bb83-9c61147bb207 14_73020253_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 14 73020253 AT A 600 PASS RGS6 Del intronic 1 6 FANCC child 14_73020253_ATA_FANCC 1 1 1 T 5 T Repeat-mediated 2eedc31e-3292-11e6-b105-7659aa5f95ce 20_60135312_CTTTC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 20 60135312 CTTT C 480 PASS CDH4 Del intronic 3 5 POLM child 20_60135312_CTTTC_POLM 3 3 2 TT 0 - Microhomology-mediated 2ef249e8-328d-11e6-939b-845c694da5d2 18_68882422_AGA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 18 68882422 AG A 600 PASS RP11-47G4.2 Del downstream 1 3 POLM child 18_68882422_AGA_POLM 1 1 1 G 2 G Repeat-mediated 2ef48800-328f-11e6-bec1-ca1d0e01a414 X_154807082_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 154807082 TA T 480 PASS TMLHE Del intronic 1 8 MSH6 child X_154807082_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 2efc22c8-327a-11e6-b5ff-0de46de4ab00 5_153916319_AACT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 5 153916319 A ACT 360 PASS - Ins - 2 4 POLB child 5_153916319_AACT_POLB 2 2 - - - - Ins 2f04984e-3271-11e6-9309-bdc34a47a305 8_97484471_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 97484471 CT C 300 PASS - Del - 1 9 MSH6 child 8_97484471_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2f084b3c-3286-11e6-a1ac-fd6da2c71c31 13_81761138_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 81761138 C CA 900 PASS - Ins - 1 7 MSH6 child 13_81761138_CCA_MSH6 1 1 - - - - Ins 2f09ae38-328f-11e6-9e01-8e5c694da5d2 12_60122317_TTGGTG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 12 60122317 T TGGTG 420 PASS SLC16A7 Ins intronic 4 0 POLM child 12_60122317_TTGGTG_POLM 4 4 - - - - Ins 2f10fb2a-328a-11e6-b805-77090e01a414 2_61217297_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 61217297 GA G 480 PASS PUS10 Del intronic 1 8 MSH6 child 2_61217297_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2f135980-3288-11e6-b9eb-c78fa2c71c31 6_28990576_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 28990576 CT C 660 PASS - Del - 1 9 MSH6 child 6_28990576_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 2f1599de-327e-11e6-9390-53fe684da5d2 16_23917582_CATCTTAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 16 23917582 CATCTTA C 540 PASS PRKCB Del intronic 6 1 NEIL1 child 16_23917582_CATCTTAC_NEIL1 6 6 2 AT 0 - Microhomology-mediated 2f1aef44-3272-11e6-b636-ce0fead19ece 12_45175798_TCTCT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 12 45175798 TCTC T 420 PASS NELL2 Del intronic 3 2 NEIL1 child 12_45175798_TCTCT_NEIL1 3 3 3 CTC 1 CTC Repeat-mediated 2f2268cc-3273-11e6-ad8b-494f3cfdbd24 7_94165125_CATC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 7 94165125 CAT C 1049 PASS CASD1 Del intronic 2 3 POLM child 7_94165125_CATC_POLM 2 2 2 AT 2 AT Repeat-mediated 2f25d916-3288-11e6-a7ff-5779a178171f 10_27737822_TTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 27737822 T TA 480 PASS - Ins - 1 5 FANCC child 10_27737822_TTA_FANCC 1 1 - - - - Ins 2f2d8db8-3275-11e6-8f33-a6d9cde16804 11_113457923_AAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 113457923 A AG 660 PASS - Ins - 1 4 MSH6 child 11_113457923_AAG_MSH6 1 1 - - - - Ins 2f31bf46-3289-11e6-a8ac-a28ea2c71c31 3_155120068_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 155120068 CA C 780 PASS PLCH1 Del intronic 1 7 MSH6 child 3_155120068_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 2f34702c-3286-11e6-8b67-086ea2c71c31 1_157838641_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 157838641 CT C 540 PASS - Del - 1 8 MSH6 child 1_157838641_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2f367134-328f-11e6-94e1-63e1191589db 3_132687668_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 132687668 AT A 300 PASS - Del - 1 9 FANCC child 3_132687668_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 2f47dd40-326f-11e6-b4bf-85eb97ba1142 2_16645329_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 16645329 GA G 420 PASS - Del - 1 7 EXO1 parent 2_16645329_GAG_EXO1 1 1 1 A 6 A Repeat-mediated 2f4c885e-3288-11e6-9955-19979cdf095d 8_104541136_GGT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 104541136 G GT 700 PASS RIMS2 Ins intronic 1 5 POLE child 8_104541136_GGT_POLE 1 1 - - - - Ins 2f4ef892-3273-11e6-bfb2-2749c225ee11 12_57119519_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 57119519 TC T 480 PASS NACA Del 5prime_UTR_variant 1 8 MSH6 child 12_57119519_TCT_MSH6 1 1 1 C 7 C Repeat-mediated 2f61e62a-328f-11e6-bb1e-70e16f39e758 X_62692367_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 62692367 CA C 300 PASS - Del - 1 6 MSH6 child X_62692367_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 2f6394ae-32a1-11e6-a04f-c66a25c9da85 6_121965824_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 121965824 CA C 420 PASS - Del - 1 8 MSH6 child 6_121965824_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 2f64f9f8-328c-11e6-ae46-59cc977b3f23 12_56210483_CACAAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 12 56210483 CACAA C 840 PASS DNAJC14 Del downstream 4 1 NEIL1 child 12_56210483_CACAAC_NEIL1 4 4 3 ACA 0 - Microhomology-mediated 2f68daa8-328e-11e6-a936-e7078b285ec1 17_62241806_AAC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 17 62241806 A AC 300 PASS TEX2 Ins intronic 1 3 POLE child 17_62241806_AAC_POLE 1 1 - - - - Ins 2f6d4a20-328e-11e6-bec1-ca1d0e01a414 X_73767114_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 73767114 CT C 540 PASS - Del - 1 8 MSH6 child X_73767114_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2f6dbc1e-32a0-11e6-ae71-0c5325c9da85 1_107517891_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 107517891 C CT 480 PASS - Ins - 1 7 MSH6 child 1_107517891_CCT_MSH6 1 1 - - - - Ins 2f702dc2-326f-11e6-b5b8-e0c24a47a305 X_14639459_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 14639459 TA T 420 PASS GLRA2 Del intronic 1 4 MSH6 child X_14639459_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 2f73f6dc-3288-11e6-a21c-b819bce6aa09 X_13198262_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 13198262 T TA 660 PASS - Ins - 1 1 MSH6 child X_13198262_TTA_MSH6 1 1 - - - - Ins 2f867d8a-328c-11e6-919e-92c36f39e758 2_44204227_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 44204227 CT C 360 PASS LRPPRC Del intronic 1 8 MSH6 child 2_44204227_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2fa92e80-3290-11e6-92cf-bf2a0e01a414 6_89458484_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 89458484 GA G 360 PASS RNGTT Del intronic 1 8 MSH6 child 6_89458484_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2faa1b90-326f-11e6-8141-e0f3eab8d062 16_15927929_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 16 15927929 CT C 420 PASS MYH11 Del intronic 1 9 NUDT1 child 16_15927929_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 2fadb784-3286-11e6-afcf-0311bce6aa09 9_36349476_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 36349476 AT A 540 PASS RNF38 Del intronic 1 8 MSH6 child 9_36349476_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 2fb11a4c-3258-11e6-8cd9-139b7872c165 3_48608234_GCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 48608234 GC G 540 PASS COL7A1 Del intronic 1 5 MSH6 child 3_48608234_GCG_MSH6 1 1 1 C 4 C Repeat-mediated 2fb3d776-3255-11e6-a70f-7c832aaffa45 17_57686927_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 17 57686927 AT A 660 PASS DHX40 Del downstream 1 9 POLM child 17_57686927_ATA_POLM 1 1 1 T 8 T Repeat-mediated 2fbe7142-3271-11e6-b5b8-e0c24a47a305 X_122861062_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 122861062 CA C 300 PASS THOC2 Del intronic 1 8 MSH6 child X_122861062_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 2fc719ce-3275-11e6-a5d0-4fd14a47a305 2_238999275_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 238999275 TA T 300 PASS SCLY Del intronic 1 9 MSH6 child 2_238999275_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 2fc7ad6e-328c-11e6-bd84-429305ad5bc4 1_83486196_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 83486196 CT C 540 PASS RP4-601K24.1 Del intronic 1 8 MSH6 child 1_83486196_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 2fd12622-3256-11e6-a304-347a7872c165 1_182546821_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 182546821 GA G 540 PASS RNASEL Del intronic 1 9 MSH6 child 1_182546821_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 2fd5807a-3281-11e6-ae55-ef338e4678dd 14_74175961_AAAGA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 14 74175961 AAAG A 480 PASS PNMA1 Del downstream 3 2 EXO1 child 14_74175961_AAAGA_EXO1 3 3 3 AAG 1 AAG Repeat-mediated 2fddd032-3271-11e6-b89d-b2d6b0dab373 4_114948012_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 114948012 AT A 360 PASS - Del - 1 9 MSH6 child 4_114948012_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2fe129a4-3289-11e6-8909-3ebb38e8a824 9_28906080_TTAAATATGGAATCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 9 28906080 TTAAATATGGAATC T 540 PASS - Del - 13 1 NUDT1 parent 9_28906080_TTAAATATGGAATCT_NUDT1 13 >=10 4 TAAA 0 - Microhomology-mediated 2fe2ce74-3272-11e6-8418-1c5942c4520d 3_1032180_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 1032180 G GT 360 PASS - Ins - 1 5 MSH6 child 3_1032180_GGT_MSH6 1 1 - - - - Ins 2fe78e9c-3285-11e6-99f7-076ea2c71c31 12_68899881_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 68899881 AT A 420 PASS - Del - 1 9 MSH6 child 12_68899881_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 2fe9d5ee-3294-11e6-8d91-0b8730158702 1_243481815_TAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 1 243481815 TA T 300 PASS SDCCAG8 Del intronic 1 9 NUDT1 child 1_243481815_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 2ff43252-328d-11e6-9e88-ed4438e8a824 6_122495212_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 6 122495212 CT C 420 PASS - Del - 1 5 NUDT1 parent 6_122495212_CTC_NUDT1 1 1 1 T 4 T Repeat-mediated 2ff4dd3e-329b-11e6-b723-b29fcc638e3d 19_48547836_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 48547836 GA G 660 PASS PLA2G4C Del downstream 1 8 MSH6 child 19_48547836_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 2ff8b75c-3277-11e6-99c3-088c3adbad45 6_50579159_GATG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 6 50579159 GAT G 480 PASS RP1-28O17.1 Del intronic 2 2 CHK2 child 6_50579159_GATG_CHK2 2 2 2 AT 1 AT Repeat-mediated 2ff8bef2-328e-11e6-b6a6-1f1e0e01a414 4_108137027_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 108137027 TA T 300 PASS - Del - 1 7 MSH6 child 4_108137027_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 2ff983a8-3295-11e6-a24b-ac3c7a852e0e 6_68013535_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 6 68013535 AT A 480 PASS - Del - 1 9 CHK2 child 6_68013535_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 2fff9554-3321-11e6-be22-69745e975b79 1_92212175_CTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 1 92212175 CT C 660 PASS TGFBR3 Del intronic 1 9 CHK2 parent 1_92212175_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 300c26f4-3257-11e6-b04f-1ca12aaffa45 8_29637578_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 8 29637578 CA C 480 PASS AC145110.1 Del intronic 1 9 POLM child 8_29637578_CAC_POLM 1 1 1 A 8 A Repeat-mediated 300f8180-326d-11e6-9003-ae204b47a305 19_28575560_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 28575560 GA G 640 PASS CTD-2043I16.1 Del intronic 1 8 MSH6 child 19_28575560_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 301d24b2-3285-11e6-8b67-086ea2c71c31 1_62255014_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 62255014 CA C 360 PASS INADL Del intronic 1 9 MSH6 child 1_62255014_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 30264328-3274-11e6-a862-bc9becf1e924 1_117332472_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 117332472 GA G 480 PASS - Del - 1 9 MSH6 child 1_117332472_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 3027608c-328d-11e6-b8e6-91c36f39e758 11_109572518_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 109572518 TA T 300 PASS - Del - 1 9 MSH6 child 11_109572518_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 30286d8e-3287-11e6-a284-4b89a2c71c31 4_57354056_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 57354056 AT A 660 PASS SRP72 Del intronic 1 9 MSH6 child 4_57354056_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3031d60e-3277-11e6-a71d-236235cec73b X_92328641_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 92328641 AT A 489 PASS - Del - 1 7 MSH6 child X_92328641_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3038fcec-329d-11e6-ae71-0c5325c9da85 1_194951005_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 194951005 CT C 480 PASS - Del - 1 7 MSH6 child 1_194951005_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 303dbf32-326d-11e6-b306-b5204b47a305 2_49255238_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 49255238 CA C 360 PASS FSHR Del intronic 1 8 MSH6 child 2_49255238_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 303eb970-329d-11e6-ae71-0c5325c9da85 1_194951739_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 194951739 AT A 1020 PASS - Del - 1 5 MSH6 child 1_194951739_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 303f62d4-3271-11e6-9eec-5017987b3f23 10_53148368_GAG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 10 53148368 GA G 360 PASS PRKG1 Del intronic 1 9 POLB child 10_53148368_GAG_POLB 1 1 1 A 8 A Repeat-mediated 3040abf2-328b-11e6-8459-82090e01a414 12_112715666_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 112715666 AT A 360 PASS HECTD4 Del intronic 1 8 MSH6 child 12_112715666_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 304d546c-328e-11e6-b8c1-a64daa5f95ce 9_36340381_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 9 36340381 CT C 540 PASS RNF38 Del intronic 1 7 POLE child 9_36340381_CTC_POLE 1 1 1 T 6 T Repeat-mediated 30613e10-3279-11e6-8c34-46e27872c165 5_86174696_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 86174696 T TA 420 PASS - Ins - 1 8 MSH6 child 5_86174696_TTA_MSH6 1 1 - - - - Ins 306521b0-328d-11e6-b6a6-1f1e0e01a414 4_44414749_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 44414749 CA C 360 PASS KCTD8 Del intronic 1 7 MSH6 child 4_44414749_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 3070f86a-3273-11e6-93e1-6451e7d0bdd7 10_24016093_ATA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 10 24016093 AT A 540 PASS KIAA1217 Del intronic 1 8 POLB child 10_24016093_ATA_POLB 1 1 1 T 7 T Repeat-mediated 30714652-3297-11e6-9baf-ebf997ba1142 14_84908463_CTACAATTGCATTTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 14 84908463 CTACAATTGCATTT C 300 PASS - Del - 13 1 CHK2 child 14_84908463_CTACAATTGCATTTC_CHK2 13 >=10 2 TA 0 - Microhomology-mediated 3077d790-3294-11e6-b14c-5e337a852e0e X_94151833_GTG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 94151833 GT G 522 PASS - Del - 1 7 CHK2 child X_94151833_GTG_CHK2 1 1 1 T 6 T Repeat-mediated 307d3b40-328a-11e6-9c89-8d090e01a414 1_45796756_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 45796756 CA C 600 PASS MUTYH Del intronic 1 9 MSH6 child 1_45796756_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 3092979c-3271-11e6-acc7-e55219a91649 1_158122033_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 158122033 C CT 360 PASS - Ins - 1 9 MSH6 child 1_158122033_CCT_MSH6 1 1 - - - - Ins 3092ce64-326d-11e6-9793-9a8fb0dab373 13_58004400_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 58004400 AG A 300 PASS - Del - 1 8 MSH6 child 13_58004400_AGA_MSH6 1 1 1 G 7 G Repeat-mediated 30a8dc7c-329a-11e6-8d0f-075325c9da85 14_38317067_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 38317067 CT C 600 PASS - Del - 1 9 MSH6 child 14_38317067_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 30acf350-3256-11e6-a304-347a7872c165 1_182822422_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 182822422 AT A 960 PASS DHX9 Del intronic 1 8 MSH6 child 1_182822422_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 30b46da2-328c-11e6-b805-77090e01a414 2_195663500_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 195663500 GA G 420 PASS - Del - 1 8 MSH6 child 2_195663500_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 30b5ab94-329c-11e6-ae71-0c5325c9da85 1_144999581_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 144999581 TA T 695 PASS PDE4DIP Del upstream 1 5 MSH6 child 1_144999581_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 30c05abe-328b-11e6-b805-77090e01a414 2_128793922_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 128793922 GA G 300 PASS - Del - 1 8 MSH6 child 2_128793922_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 30c1c3b8-3254-11e6-8ebc-3ef212ae24cf 15_53394376_ATCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 53394376 ATC A 360 PASS - Del - 2 8 MSH6 child 15_53394376_ATCA_MSH6 2 2 2 TC 7 TC Repeat-mediated 30c7981e-3255-11e6-9f9d-2c7a7872c165 12_110855482_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 110855482 CT C 360 PASS - Del - 1 8 MSH6 child 12_110855482_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 30d76182-326d-11e6-acc7-e55219a91649 1_64468860_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 64468860 CT C 300 PASS ROR1 Del intronic 1 8 MSH6 child 1_64468860_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 30d927c8-3278-11e6-a71d-236235cec73b X_10963622_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 10963622 T TA 480 PASS RP11-120D5.1 Ins intronic 1 7 MSH6 child X_10963622_TTA_MSH6 1 1 - - - - Ins 30dcdeba-3285-11e6-9546-b5936f39e758 15_74440137_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 74440137 AT A 300 PASS - Del - 1 7 EXO1 child 15_74440137_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 30dd4d12-3291-11e6-b81f-4ee66f39e758 8_100711824_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 100711824 CT C 840 PASS VPS13B Del frameshift 1 7 MSH6 child 8_100711824_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 30ded90e-3294-11e6-98e0-70dad8b4fa2c 2_209735077_ATA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 209735077 AT A 660 PASS - Del - 1 2 NUDT1 child 2_209735077_ATA_NUDT1 1 1 1 T 1 T Repeat-mediated 30e27f64-328f-11e6-bb1e-70e16f39e758 X_63912481_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 63912481 CT C 600 PASS - Del - 1 7 MSH6 child X_63912481_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 30ede872-3271-11e6-b5b8-e0c24a47a305 X_122966899_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 122966899 TA T 300 PASS - Del - 1 9 MSH6 child X_122966899_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 30f18bb8-3324-11e6-bca1-ddd45d753391 22_29107973_TCGAAAGCCAGT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 22 29107973 TCGAAAGCCAG T 1200 PASS CHEK2 Del frameshift 10 1 CHK2 parent 22_29107973_TCGAAAGCCAGT_CHK2 10 >=10 1 C 0 - Microhomology-mediated 30fcfc1a-3274-11e6-a76d-26961565c797 1_106396853_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 106396853 AT A 840 PASS - Del - 1 7 EXO1 child 1_106396853_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 3101a0cc-328c-11e6-bd84-429305ad5bc4 1_84251473_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 84251473 CT C 600 PASS RP11-475O6.1 Del intronic 1 7 MSH6 child 1_84251473_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 3103cbe8-3275-11e6-afb6-12832aaffa45 8_91306921_CTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 8 91306921 CT C 480 PASS LINC00534 Del intronic 1 9 CHK2 child 8_91306921_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 310728ca-326f-11e6-acc7-e55219a91649 1_227890845_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 227890845 CA C 1074 PASS - Del - 1 7 MSH6 child 1_227890845_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 31087a4c-3286-11e6-b282-3612147bb207 6_33397190_GCTG . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 6 33397190 GCT G 780 PASS SYNGAP1 Del intronic 2 2 FANCC child 6_33397190_GCTG_FANCC 2 2 2 CT 1 CT Repeat-mediated 310d0560-3288-11e6-8bf5-48a538e8a824 14_106129322_ACA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 14 106129322 AC A 184 PASS - Del - 1 2 NUDT1 parent 14_106129322_ACA_NUDT1 1 1 1 C 1 C Repeat-mediated 310d793a-3271-11e6-b5b8-e0c24a47a305 X_122976626_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 122976626 CA C 300 PASS - Del - 1 7 MSH6 child X_122976626_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 310d95fc-3292-11e6-a2c1-b9370d016689 12_57254685_CTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 12 57254685 CT C 360 PASS - Del - 1 9 NUDT1 child 12_57254685_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 310ec8b4-32a1-11e6-a04f-c66a25c9da85 6_122373110_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 122373110 AT A 840 PASS - Del - 1 7 MSH6 child 6_122373110_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3110fd3e-3281-11e6-b263-76d64dc77248 8_8517475_AAAAG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 8517475 A AAAG 720 PASS - Ins - 3 4 NUDT1 child 8_8517475_AAAAG_NUDT1 3 3 - - - - Ins 311af83c-3288-11e6-a284-4b89a2c71c31 4_152444658_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 152444658 GT G 300 PASS FAM160A1 Del intronic 1 9 MSH6 child 4_152444658_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 31227114-328f-11e6-9230-fb250e01a414 3_81378026_ATCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 81378026 ATC A 360 PASS - Del - 2 4 MSH6 child 3_81378026_ATCA_MSH6 2 2 2 TC 3 TC Repeat-mediated 31230a34-3271-11e6-9309-bdc34a47a305 8_98381945_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 98381945 CT C 420 PASS - Del - 1 9 MSH6 child 8_98381945_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3129f224-3297-11e6-9411-bc1ec7271a47 19_50469688_CTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 19 50469688 CT C 300 PASS - Del - 1 9 CHK2 child 19_50469688_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 3130ea76-329b-11e6-8069-175325c9da85 12_79109926_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 79109926 AT A 420 PASS - Del - 1 9 MSH6 child 12_79109926_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3131283a-3285-11e6-97d5-6cf1bbe6aa09 17_61633151_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 61633151 TA T 660 PASS DCAF7 Del intronic 1 9 MSH6 child 17_61633151_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 313572c4-329d-11e6-94ca-0aaecc638e3d X_23073642_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 23073642 CT C 1063 PASS RP11-40F8.2 Del intronic 1 7 MSH6 child X_23073642_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 314f1772-326d-11e6-b9f4-5d1d694da5d2 14_59751573_AAGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 59751573 AAG A 480 PASS DAAM1 Del intronic 2 3 MSH6 child 14_59751573_AAGA_MSH6 2 2 2 AG 2 AG Repeat-mediated 31548266-3295-11e6-a9b2-67393dc9300a 7_39954053_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 7 39954053 TA T 480 PASS - Del - 1 9 POLB child 7_39954053_TAT_POLB 1 1 1 A 8 A Repeat-mediated 3155bc12-3281-11e6-b652-59be9b6d3b88 1_47700595_CAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 1 47700595 CA C 360 PASS TAL1 Del upstream 1 7 POLE child 1_47700595_CAC_POLE 1 1 1 A 6 A Repeat-mediated 315857ec-3281-11e6-b22d-b0e4cdacbbbf 13_84183270_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 13 84183270 CA C 360 PASS - Del - 1 9 EXO1 child 13_84183270_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 315b2412-3296-11e6-9b8b-c9bbf530df36 20_24213100_GAG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 20 24213100 GA G 480 PASS RNU1-23P Del upstream 1 7 POLB child 20_24213100_GAG_POLB 1 1 1 A 6 A Repeat-mediated 3176ddec-3287-11e6-9170-b6936f39e758 12_110030493_CCA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 110030493 C CA 600 PASS MVK Ins intronic 1 2 EXO1 child 12_110030493_CCA_EXO1 1 1 - - - - Ins 31777aee-3274-11e6-803d-c550e7d0bdd7 11_116641453_GCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCGGCCCTAGTCTTTTTCTTTTTTGAGACAGGGTCTCACACTGCTGCCCAGGCTGGAGTGCAGGGACACCATCATGGCTCCCTGCAGCCTTGACTTCCCGGGGTTAAGTTATTCTCCCTACTCAGTCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACTGTGCCTGACTACTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATGTTGCCCAGACTGGTCTCAAACTCCTAGATGCAAGCAATCCAG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 11 116641453 GCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCGGCCCTAGTCTTTTTCTTTTTTGAGACAGGGTCTCACACTGCTGCCCAGGCTGGAGTGCAGGGACACCATCATGGCTCCCTGCAGCCTTGACTTCCCGGGGTTAAGTTATTCTCCCTACTCAGTCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACTGTGCCTGACTACTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATGTTGCCCAGACTGGTCTCAAACTCCTAGATGCAAGCAATCCA G 287 PASS BUD13 Del intronic 301 1 EXO1 child 11_116641453_GCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCGGCCCTAGTCTTTTTCTTTTTTGAGACAGGGTCTCACACTGCTGCCCAGGCTGGAGTGCAGGGACACCATCATGGCTCCCTGCAGCCTTGACTTCCCGGGGTTAAGTTATTCTCCCTACTCAGTCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACTGTGCCTGACTACTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATGTTGCCCAGACTGGTCTCAAACTCCTAGATGCAAGCAATCCAG_EXO1 301 >=10 24 CCCGCCTTGGCCTCCCAAAGTGCT 0 - Microhomology-mediated 31927484-326f-11e6-acc7-e55219a91649 1_228148917_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 228148917 GA G 420 PASS - Del - 1 9 MSH6 child 1_228148917_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 31996b60-3277-11e6-8c34-46e27872c165 5_129146118_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 129146118 TA T 420 PASS - Del - 1 5 MSH6 child 5_129146118_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 319da1c0-3273-11e6-abaf-4642cab49462 6_111291471_CAGGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 111291471 CAGG C 300 PASS GTF3C6 Del downstream 3 1 MSH6 child 6_111291471_CAGGC_MSH6 3 3 2 AG 0 - Microhomology-mediated 31a00354-328f-11e6-9230-fb250e01a414 3_81568847_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 81568847 GA G 300 PASS GBE1 Del intronic 1 9 MSH6 child 3_81568847_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 31a4ac6c-3274-11e6-b09c-a7fe7146d362 10_107343401_TTA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 10 107343401 T TA 300 PASS - Ins - 1 1 CHK2 child 10_107343401_TTA_CHK2 1 1 - - - - Ins 31a70fa8-3282-11e6-9748-b96f2aaffa45 14_41967152_CCT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 14 41967152 C CT 420 PASS - Ins - 1 7 POLE child 14_41967152_CCT_POLE 1 1 - - - - Ins 31b03be6-32a0-11e6-94ca-0aaecc638e3d X_14492692_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 14492692 C CT 660 PASS - Ins - 1 1 MSH6 child X_14492692_CCT_MSH6 1 1 - - - - Ins 31bd5870-3274-11e6-bfb2-2749c225ee11 12_121405194_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 121405194 AT A 600 PASS AC079602.1 Del downstream 1 8 MSH6 child 12_121405194_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 31d666c0-3284-11e6-89eb-f2eacdacbbbf 4_174352619_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 174352619 CA C 720 PASS - Del - 1 5 EXO1 child 4_174352619_CAC_EXO1 1 1 1 A 4 A Repeat-mediated 31da6be6-32a0-11e6-a04f-c66a25c9da85 6_54857926_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 54857926 GA G 840 PASS - Del - 1 8 MSH6 child 6_54857926_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 31e11232-3270-11e6-8418-1c5942c4520d 3_23666189_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 23666189 GT G 360 PASS - Del - 1 6 MSH6 child 3_23666189_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 31e219b6-3257-11e6-acc5-308412ae24cf 5_54586842_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 54586842 CA C 420 PASS DHX29 Del intronic 1 9 MSH6 child 5_54586842_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 31e68ed2-328a-11e6-b74f-549ba2c71c31 20_36632916_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 36632916 CT C 720 PASS TTI1 Del intronic 1 4 MSH6 child 20_36632916_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 31e7435e-3271-11e6-a539-0e5542c4520d 7_131242689_GGAGACGCAGAGTCTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 131242689 GGAGACGCAGA GTCTC 420 PASS PODXL Complex upstream 10 0 MSH6 child 7_131242689_GGAGACGCAGAGTCTC_MSH6 6 6 - - - - Complex 32019d88-32a0-11e6-bc66-17b4cc638e3d 8_88828104_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 88828104 CT C 720 PASS - Del - 1 7 MSH6 child 8_88828104_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 320559e0-3323-11e6-ae98-b2b5fa52e078 2_225233874_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 225233874 GA G 840 PASS - Del - 1 6 EXO1 child 2_225233874_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 32067dce-329d-11e6-aca6-b39fcc638e3d 2_219706425_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 219706425 CA C 420 PASS - Del - 1 9 MSH6 child 2_219706425_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 32195596-3277-11e6-83cd-a472a178171f 4_154747747_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 154747747 CT C 360 PASS - Del - 1 6 MSH6 child 4_154747747_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 321a42f4-328f-11e6-b8e6-91c36f39e758 11_104956070_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 104956070 A AT 360 PASS CASP1 Ins intronic 1 3 MSH6 child 11_104956070_AAT_MSH6 1 1 - - - - Ins 321c4076-328b-11e6-a7cf-80090e01a414 15_79151024_CTTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 79151024 CTT C 960 PASS - Del - 2 3 MSH6 child 15_79151024_CTTC_MSH6 2 2 1 T 0 - Microhomology-mediated 321f380a-3293-11e6-9d97-efe56f39e758 4_132687803_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 132687803 T TA 384 PASS - Ins - 1 7 MSH6 child 4_132687803_TTA_MSH6 1 1 - - - - Ins 3220e4c4-328f-11e6-92cf-bf2a0e01a414 6_27672223_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 27672223 CA C 300 PASS - Del - 1 8 MSH6 child 6_27672223_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 32214138-328c-11e6-b4fe-93c36f39e758 12_42133925_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 42133925 TA T 600 PASS - Del - 1 8 MSH6 child 12_42133925_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 32223a44-328b-11e6-bba4-c0bdcc638e3d 9_4844432_CAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 9 4844432 CA C 480 PASS RCL1 Del intronic 1 8 NUDT1 child 9_4844432_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 32328d2c-3295-11e6-a9b2-67393dc9300a 7_40089422_AATGA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 7 40089422 AATG A 480 PASS CDK13 Del intronic 3 2 POLB child 7_40089422_AATGA_POLB 3 3 3 ATG 1 ATG Repeat-mediated 323b734c-3281-11e6-a1d1-b18df4b7c17d 1_114540894_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 114540894 AT A 540 PASS - Del - 1 9 FANCC child 1_114540894_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 323f4350-3286-11e6-a1ac-fd6da2c71c31 13_83197501_TTTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 83197501 T TTA 600 PASS - Ins - 2 4 MSH6 child 13_83197501_TTTA_MSH6 2 2 - - - - Ins 323f8fae-328b-11e6-8eee-76090e01a414 10_123944317_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 123944317 GT G 360 PASS TACC2 Del intronic 1 8 MSH6 child 10_123944317_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 32413a42-328c-11e6-8106-81c36f39e758 19_36540151_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 36540151 CA C 480 PASS THAP8 Del intronic 1 9 MSH6 child 19_36540151_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 324380b6-3270-11e6-a777-d57d9cdf095d 10_89454315_AGAATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 10 89454315 AGAAT A 660 PASS PAPSS2 Del intronic 4 1 EXO1 parent 10_89454315_AGAATA_EXO1 4 4 2 GA 0 - Microhomology-mediated 324c9ec0-328f-11e6-8952-77c36f39e758 10_118716422_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 118716422 G GT 780 PASS KIAA1598 Ins intronic 1 7 MSH6 child 10_118716422_GGT_MSH6 1 1 - - - - Ins 3258e7a2-3258-11e6-9d15-298312ae24cf X_110742001_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 110742001 CT C 480 PASS - Del - 1 6 MSH6 child X_110742001_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 325b7182-3278-11e6-ab69-1c1607e9a829 9_133563225_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 133563225 G GT 480 PASS PRDM12 Ins downstream 1 1 MSH6 child 9_133563225_GGT_MSH6 1 1 - - - - Ins 32619c7e-327d-11e6-8e5f-c9a0aa716c52 14_91888937_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 14 91888937 GA G 420 PASS CCDC88C Del upstream 1 9 POLB parent 14_91888937_GAG_POLB 1 1 1 A 8 A Repeat-mediated 32656226-3284-11e6-aa1d-e9782aaffa45 4_115064597_CTC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 4 115064597 CT C 360 PASS - Del - 1 9 POLE child 4_115064597_CTC_POLE 1 1 1 T 8 T Repeat-mediated 32694db2-3290-11e6-b52f-4eeb6f39e758 22_44614435_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 44614435 AC A 480 PASS - Del - 1 9 MSH6 child 22_44614435_ACA_MSH6 1 1 1 C 8 C Repeat-mediated 3270504a-328a-11e6-a284-4b89a2c71c31 4_143753911_TTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 143753911 T TC 420 PASS INPP4B Ins intronic 1 7 MSH6 child 4_143753911_TTC_MSH6 1 1 - - - - Ins 327813c0-328a-11e6-a32d-75090e01a414 14_76147687_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 76147687 AT A 360 PASS TTLL5 Del intronic 1 5 MSH6 child 14_76147687_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 32783d80-3291-11e6-b81f-4ee66f39e758 8_101348982_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 101348982 TC T 360 PASS RNF19A Del upstream 1 1 MSH6 child 8_101348982_TCT_MSH6 1 1 0 - 0 C None 32787040-3271-11e6-9c6e-9f402a2d4995 2_219798846_GTG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 2 219798846 GT G 300 PASS - Del - 1 6 POLB child 2_219798846_GTG_POLB 1 1 1 T 5 T Repeat-mediated 327f863c-328f-11e6-b81f-4ee66f39e758 8_29902152_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 29902152 AT A 600 PASS RNU6-1218P Del upstream 1 9 MSH6 child 8_29902152_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 327fd3be-3288-11e6-a284-4b89a2c71c31 4_152947949_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 152947949 AC A 540 PASS - Del - 1 7 MSH6 child 4_152947949_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 32840388-3258-11e6-9d15-298312ae24cf X_110823551_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 110823551 CA C 540 PASS - Del - 1 8 MSH6 child X_110823551_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 328a6b5c-3347-11e6-a9cc-a0a270cce0de 2_80742110_GTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 80742110 GT G 360 PASS CTNNA2 Del intronic 1 1 FANCC child 2_80742110_GTG_FANCC 1 1 0 - 0 T None 3290672a-3278-11e6-a391-f6d67d6a9fc7 6_42265875_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 42265875 GT G 300 PASS TRERF1 Del intronic 1 9 MSH6 child 6_42265875_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 329fb3a8-328f-11e6-8e48-791e0e01a414 8_106503955_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 106503955 GT G 300 PASS ZFPM2 Del intronic 1 7 MSH6 child 8_106503955_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 32a47eb8-328c-11e6-b2c7-5ecc977b3f23 2_59115216_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 2 59115216 AT A 540 PASS LINC01122 Del intronic 1 9 NEIL1 child 2_59115216_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 32af6002-3274-11e6-aafd-c7dee9d19ece 2_241267192_GGCAGGCCTGGGATG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 241267192 GGCAGGCCTGGGAT G 540 PASS - Del - 13 1 CHK2 child 2_241267192_GGCAGGCCTGGGATG_CHK2 13 >=10 0 - 0 - None 32b078aa-328a-11e6-8eee-76090e01a414 10_64231480_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 64231480 AT A 300 PASS ZNF365 Del intronic 1 7 MSH6 child 10_64231480_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 32bf8740-328b-11e6-a7cf-80090e01a414 15_79168286_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 79168286 GT G 300 PASS MORF4L1 Del intronic 1 7 MSH6 child 15_79168286_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 32c3878e-3329-11e6-a435-b8ae4430f757 20_62773491_CTGC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 20 62773491 CTG C 600 PASS - Del - 2 2 CHK2 child 20_62773491_CTGC_CHK2 2 2 2 TG 1 TG Repeat-mediated 32c83e00-3270-11e6-a539-0e5542c4520d 7_86292929_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 86292929 CT C 540 PASS GRM3 Del intronic 1 8 MSH6 child 7_86292929_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 32d70ffe-3273-11e6-a5d0-4fd14a47a305 2_68414767_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 68414767 TA T 360 PASS PPP3R1 Del intronic 1 9 MSH6 child 2_68414767_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 32e5389a-329b-11e6-b549-1e5325c9da85 10_80424673_TTAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 80424673 TTA T 540 PASS LINC00856 Del intronic 2 1 MSH6 child 10_80424673_TTAT_MSH6 2 2 1 T 0 - Microhomology-mediated 32ebd782-3254-11e6-aedc-3df212ae24cf 19_30260725_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 30260725 AT A 300 PASS - Del - 1 9 MSH6 child 19_30260725_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 32f0b32a-3276-11e6-ab69-1c1607e9a829 9_123855251_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 123855251 AT A 431 PASS CNTRL Del intronic 1 9 MSH6 child 9_123855251_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 32f59140-326e-11e6-92dd-fda8977b3f23 10_116171137_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 116171137 TA T 480 PASS - Del - 1 9 MSH6 child 10_116171137_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 32f5f542-3276-11e6-9241-55e60d01a414 8_86485485_TCT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 8 86485485 TC T 300 PASS - Del - 1 8 MSH6 parent 8_86485485_TCT_MSH6 1 1 1 C 7 C Repeat-mediated 330386d2-334b-11e6-be18-768ca20b69d5 3_155693052_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 155693052 TA T 360 PASS - Del - 1 9 FANCC child 3_155693052_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 3305d6be-3290-11e6-99d8-a1aee7d0bdd7 8_40816476_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 40816476 GA G 300 PASS - Del - 1 8 FANCC child 8_40816476_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 3308d548-32a0-11e6-aea7-956725c9da85 3_115775789_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 115775789 CA C 660 PASS LSAMP Del intronic 1 8 MSH6 child 3_115775789_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 331a866c-3255-11e6-9f9d-2c7a7872c165 12_111241775_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 111241775 TG T 840 PASS - Del - 1 7 MSH6 child 12_111241775_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 331f0062-3277-11e6-8cf1-8b341daa6045 16_71256896_CCA . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 16 71256896 C CA 300 PASS HYDIN Ins intronic 1 5 POLM child 16_71256896_CCA_POLM 1 1 - - - - Ins 332fdb1c-3254-11e6-89d3-d29498816cf3 2_72834273_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 72834273 AT A 360 PASS EXOC6B Del intronic 1 7 MSH6 child 2_72834273_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 33308cb6-32a3-11e6-b970-398625c9da85 20_52826303_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 52826303 CT C 780 PASS PFDN4 Del intronic 1 9 MSH6 child 20_52826303_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 333b2dc8-3277-11e6-92d2-c259c225ee11 3_60897922_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 60897922 GT G 480 PASS FHIT Del intronic 1 5 MSH6 child 3_60897922_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 33452c00-325a-11e6-acc5-308412ae24cf 5_97468700_TTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 97468700 T TC 600 PASS AC008834.1 Ins intronic 1 3 MSH6 child 5_97468700_TTC_MSH6 1 1 - - - - Ins 334c0f50-3293-11e6-92cf-bf2a0e01a414 6_107064346_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 107064346 G GT 600 PASS RTN4IP1 Ins intronic 1 8 MSH6 child 6_107064346_GGT_MSH6 1 1 - - - - Ins 334c3e5a-328c-11e6-9996-bebd38e8a824 X_150391616_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 150391616 GT G 340 PASS - Del - 1 9 NUDT1 parent X_150391616_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated 335418ca-3285-11e6-8dac-d9fc137bb207 5_94828340_CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 5 94828340 CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA C 300 PASS TTC37 Del intronic 34 1 FANCC child 5_94828340_CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAC_FANCC 34 >=10 15 AAAAAAAAAAAAAAA 0 - Microhomology-mediated 33569d98-3271-11e6-8418-1c5942c4520d 3_119329925_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 119329925 TA T 300 PASS PLA1A Del intronic 1 7 MSH6 child 3_119329925_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3357f2f8-327e-11e6-bd80-848ffc77b11e 15_79734735_TTATCT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 15 79734735 TTATC T 540 PASS KIAA1024 Del intronic 4 1 POLB parent 15_79734735_TTATCT_POLB 4 4 3 TAT 0 - Microhomology-mediated 33582b76-329a-11e6-a0ea-135325c9da85 15_34231035_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 34231035 CT C 300 PASS AVEN Del intronic 1 9 MSH6 child 15_34231035_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3359298c-3271-11e6-b89d-b2d6b0dab373 4_115763001_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 115763001 GT G 420 PASS NDST4 Del intronic 1 8 MSH6 child 4_115763001_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3359675a-328d-11e6-919e-92c36f39e758 2_114196108_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 114196108 CT C 384 PASS CBWD2 Del intronic 1 9 MSH6 child 2_114196108_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 335c400c-3287-11e6-9a8e-d2b1f6dffcf6 1_34896199_AGA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 34896199 AG A 720 PASS - Del - 1 1 NUDT1 parent 1_34896199_AGA_NUDT1 1 1 0 - 0 G None 335e804a-3257-11e6-99c2-78832aaffa45 1_240269155_CTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 1 240269155 CT C 600 PASS FMN2 Del intronic 1 8 POLM child 1_240269155_CTC_POLM 1 1 1 T 7 T Repeat-mediated 33620c04-3272-11e6-b89d-b2d6b0dab373 4_180856025_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 180856025 CT C 480 PASS - Del - 1 8 MSH6 child 4_180856025_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 336bbd70-3273-11e6-98e1-30573cfdbd24 9_6533916_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 9 6533916 TA T 420 PASS GLDC Del intronic 1 9 MSH6 parent 9_6533916_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 33768244-328e-11e6-8f31-bfe16f39e758 9_20174332_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 20174332 GA G 300 PASS - Del - 1 7 MSH6 child 9_20174332_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 337697de-328e-11e6-9230-fb250e01a414 3_20334341_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 20334341 AT A 300 PASS - Del - 1 7 MSH6 child 3_20334341_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 33777c80-327f-11e6-a6bc-51fe684da5d2 15_72041048_GAG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 15 72041048 GA G 360 PASS THSD4 Del intronic 1 8 NEIL1 child 15_72041048_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 337b8508-329a-11e6-8069-175325c9da85 12_19620034_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 19620034 CT C 540 PASS AEBP2 Del intronic 1 8 MSH6 child 12_19620034_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 338e371e-328d-11e6-ac7a-a3c36f39e758 18_27817567_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 27817567 A AT 480 PASS - Ins - 1 8 MSH6 child 18_27817567_AAT_MSH6 1 1 - - - - Ins 338fe680-32a2-11e6-a04f-c66a25c9da85 6_7011518_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 7011518 C CA 840 PASS - Ins - 1 9 MSH6 child 6_7011518_CCA_MSH6 1 1 - - - - Ins 3391c350-3271-11e6-a814-531398ba1142 X_11496129_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA X 11496129 AT A 1080 PASS ARHGAP6 Del intronic 1 8 EXO1 parent X_11496129_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 3398b4fe-329d-11e6-b696-dd6225c9da85 5_9743011_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 9743011 CA C 1020 PASS CTD-2143L24.1 Del intronic 1 9 MSH6 child 5_9743011_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 33a0dd52-329b-11e6-b129-195325c9da85 16_60858339_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 60858339 AT A 420 PASS - Del - 1 9 MSH6 child 16_60858339_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 33a192d6-3284-11e6-a032-41f0137bb207 1_181369383_TTAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 1 181369383 TTA T 600 PASS - Del - 2 1 NEIL1 parent 1_181369383_TTAT_NEIL1 2 2 1 T 0 - Microhomology-mediated 33a533ec-32a1-11e6-a04f-c66a25c9da85 6_122986306_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 122986306 CA C 600 PASS PKIB Del intronic 1 8 MSH6 child 6_122986306_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 33afa032-3276-11e6-afb6-12832aaffa45 8_18034102_TTTTTTTTTTG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 8 18034102 T TTTTTTTTTG 300 PASS NAT1 Ins intronic 9 0 CHK2 child 8_18034102_TTTTTTTTTTG_CHK2 9 9 - - - - Ins 33bb2d80-328f-11e6-9d24-ade56f39e758 7_41554847_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 41554847 TC T 600 PASS - Del - 1 7 MSH6 child 7_41554847_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 33c02ed4-3285-11e6-b093-c9c7b0dab373 2_62615717_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 62615717 GA G 420 PASS - Del - 1 8 MSH6 child 2_62615717_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 33c1e6ea-3288-11e6-a284-4b89a2c71c31 4_153617704_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 153617704 GA G 660 PASS - Del - 1 7 MSH6 child 4_153617704_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 33cd9ee6-3255-11e6-92eb-77832aaffa45 10_73926245_GTG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 10 73926245 GT G 360 PASS ASCC1 Del intronic 1 8 POLM child 10_73926245_GTG_POLM 1 1 1 T 7 T Repeat-mediated 33cdb3a2-3289-11e6-b30e-eb4590e2c2e6 8_105853561_GATG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 8 105853561 GAT G 360 PASS - Del - 2 6 POLE child 8_105853561_GATG_POLE 2 2 2 AT 5 AT Repeat-mediated 33d7f4b4-3277-11e6-998e-ba48fa52e078 8_116870925_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 116870925 AT A 420 PASS - Del - 1 8 MSH6 child 8_116870925_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 33d8bf20-3286-11e6-a0a8-096ea2c71c31 11_32654861_AAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 32654861 A AG 840 PASS CCDC73 Ins intronic 1 3 MSH6 child 11_32654861_AAG_MSH6 1 1 - - - - Ins 33e8adde-325b-11e6-8340-da9012ae24cf 6_6923957_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 6923957 C CT 420 PASS - Ins - 1 8 MSH6 child 6_6923957_CCT_MSH6 1 1 - - - - Ins 33f729d8-326d-11e6-adc2-b7204b47a305 18_50706029_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 50706029 GT G 360 PASS DCC Del intronic 1 9 MSH6 child 18_50706029_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 33f7772c-3276-11e6-a3f9-4821ead19ece 3_44659250_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 3 44659250 AT A 660 PASS ZNF197 Del intronic 1 1 NEIL1 child 3_44659250_ATA_NEIL1 1 1 0 - 0 T None 33f8d94c-328e-11e6-9230-fb250e01a414 3_20468035_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 20468035 CT C 300 PASS - Del - 1 9 MSH6 child 3_20468035_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 33ff3b02-3275-11e6-83bd-65e871d7bc54 15_97893772_GAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 15 97893772 GA G 540 PASS CTD-2147F2.1 Del intronic 1 9 NEIL1 child 15_97893772_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 3408f58e-3257-11e6-885f-d1947872c165 4_74126940_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 74126940 CT C 780 PASS ANKRD17 Del upstream 1 7 MSH6 child 4_74126940_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 340cd0fe-328f-11e6-bfa2-581f0e01a414 7_149795503_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 149795503 TA T 537 PASS - Del - 1 6 MSH6 child 7_149795503_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 340d9b28-327c-11e6-a391-f6d67d6a9fc7 6_153802797_TTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 153802797 T TG 960 PASS - Ins - 1 5 MSH6 child 6_153802797_TTG_MSH6 1 1 - - - - Ins 340e1976-3282-11e6-8e02-69393dc9300a 19_39987740_CTC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 19 39987740 CT C 360 PASS DLL3 Del upstream 1 9 FANCC child 19_39987740_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 34108356-3290-11e6-a4f7-2c67694da5d2 4_78441701_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 4 78441701 AT A 408 PASS CXCL13 Del intronic 1 5 POLM child 4_78441701_ATA_POLM 1 1 1 T 4 T Repeat-mediated 3416f1c8-3290-11e6-9d97-efe56f39e758 4_107908949_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 107908949 TA T 660 PASS DKK2 Del intronic 1 8 MSH6 child 4_107908949_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 341810a4-329e-11e6-91d0-016425c9da85 7_45641132_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 45641132 GT G 420 PASS ADCY1 Del intronic 1 9 MSH6 child 7_45641132_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 341c4fce-3254-11e6-bf41-357a7872c165 10_45902850_TCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 45902850 TC T 480 PASS ALOX5 Del intronic 1 7 MSH6 child 10_45902850_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 341dea2e-328f-11e6-92cf-bf2a0e01a414 6_28041034_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 28041034 AT A 360 PASS - Del - 1 8 MSH6 child 6_28041034_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3421db04-328d-11e6-bd84-429305ad5bc4 1_224776518_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 224776518 TA T 360 PASS - Del - 1 8 MSH6 child 1_224776518_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 342e0368-3286-11e6-b093-c9c7b0dab373 2_148038852_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 148038852 CA C 360 PASS - Del - 1 9 MSH6 child 2_148038852_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 3431eefe-3279-11e6-a05d-037890e2c2e6 12_31044601_CTC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 12 31044601 CT C 660 PASS - Del - 1 8 FANCC parent 12_31044601_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 3435ac32-328e-11e6-bb1e-70e16f39e758 X_32386443_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 32386443 AT A 600 PASS DMD Del intronic 1 9 MSH6 child X_32386443_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 343b6622-329d-11e6-b696-dd6225c9da85 5_9973981_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 9973981 CA C 420 PASS - Del - 1 4 MSH6 child 5_9973981_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 343ce32e-326d-11e6-acc7-e55219a91649 1_65269991_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 65269991 GT G 480 PASS RAVER2 Del intronic 1 8 MSH6 child 1_65269991_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 343e3a6a-3292-11e6-9070-b1a39b6d3b88 6_101195437_TGAACTATTAATACATGT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 6 101195437 TGAACTATTAATACATG T 300 PASS ASCC3 Del intronic 16 1 POLB child 6_101195437_TGAACTATTAATACATGT_POLB 16 >=10 0 - 0 - None 34515032-326f-11e6-acc7-e55219a91649 1_228826531_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 228826531 AT A 300 PASS - Del - 1 7 MSH6 child 1_228826531_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3452b882-3274-11e6-85c1-8b573cfdbd24 13_81174625_GTG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 13 81174625 GT G 300 PASS - Del - 1 5 CHK2 child 13_81174625_GTG_CHK2 1 1 1 T 4 T Repeat-mediated 345bb3b8-3276-11e6-ab69-1c1607e9a829 9_124197127_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 124197127 AG A 540 PASS - Del - 1 4 MSH6 child 9_124197127_AGA_MSH6 1 1 1 G 3 G Repeat-mediated 345c9f8c-329c-11e6-aca6-b39fcc638e3d 2_159862320_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 159862320 GA G 420 PASS TANC1 Del intronic 1 9 MSH6 child 2_159862320_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 34617d48-3285-11e6-97d5-6cf1bbe6aa09 17_62707639_CTGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 62707639 CTG C 612 PASS - Del - 2 2 MSH6 child 17_62707639_CTGC_MSH6 2 2 2 TG 1 TG Repeat-mediated 34636774-3290-11e6-9230-fb250e01a414 3_150705022_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 150705022 GT G 420 PASS - Del - 1 8 MSH6 child 3_150705022_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 346769ba-328f-11e6-8e48-791e0e01a414 8_107666180_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 107666180 TA T 960 PASS OXR1 Del intronic 1 8 MSH6 child 8_107666180_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3468f3c4-326d-11e6-acc7-e55219a91649 1_65317120_AGAGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 65317120 AGAG A 420 PASS JAK1 Del intronic 3 3 MSH6 child 1_65317120_AGAGA_MSH6 3 3 3 GAG 2 GAG Repeat-mediated 3469c494-3271-11e6-bfba-13bf4a47a305 9_124750636_AAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 124750636 A AC 360 PASS TTLL11 Ins intronic 1 6 MSH6 child 9_124750636_AAC_MSH6 1 1 - - - - Ins 3477d722-3272-11e6-abaf-4642cab49462 6_39849496_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 39849496 GA G 480 PASS DAAM2 Del intronic 1 9 MSH6 child 6_39849496_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 347b02f0-3289-11e6-b9eb-c78fa2c71c31 6_136907476_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 136907476 CT C 420 PASS MAP3K5 Del intronic 1 8 MSH6 child 6_136907476_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3484a1fc-327a-11e6-8de8-fc8b5d753391 10_119563477_TCT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 10 119563477 TC T 480 PASS - Del - 1 8 FANCC parent 10_119563477_TCT_FANCC 1 1 1 C 7 C Repeat-mediated 34991fa6-3289-11e6-b9eb-c78fa2c71c31 6_136945335_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 136945335 GA G 840 PASS MAP3K5 Del intronic 1 9 MSH6 child 6_136945335_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 349a9948-3258-11e6-ad95-79832aaffa45 15_99291663_CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 15 99291663 C CAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT 300 PASS IGF1R Ins intronic 52 0 POLM child 15_99291663_CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT_POLM 52 >=10 - - - - Ins 349dcfc8-328a-11e6-8580-eccd191589db 16_75278305_TGT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 16 75278305 TG T 600 PASS BCAR1 Del intronic 1 5 FANCC child 16_75278305_TGT_FANCC 1 1 1 G 4 G Repeat-mediated 34a1cf08-3292-11e6-b77d-2eef6f39e758 6_115920394_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 115920394 CA C 360 PASS - Del - 1 4 MSH6 child 6_115920394_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 34a761ae-329a-11e6-8069-175325c9da85 12_19752146_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 19752146 CT C 480 PASS - Del - 1 9 MSH6 child 12_19752146_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 34aab3de-326f-11e6-bfba-13bf4a47a305 9_83348036_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 83348036 AT A 300 PASS - Del - 1 9 MSH6 child 9_83348036_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 34ab9f38-3283-11e6-b857-6115038949d4 5_56733407_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 5 56733407 AT A 480 PASS - Del - 1 9 POLM child 5_56733407_ATA_POLM 1 1 1 T 8 T Repeat-mediated 34c9f664-3273-11e6-aa3b-ca60a178171f 13_73386114_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 73386114 CT C 660 PASS PIBF1 Del intronic 1 8 MSH6 child 13_73386114_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 34d8f86c-3273-11e6-8418-1c5942c4520d 3_105387365_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 105387365 T TA 420 PASS CBLB Ins intronic 1 7 MSH6 child 3_105387365_TTA_MSH6 1 1 - - - - Ins 34dd892e-3258-11e6-b4fa-e69a7872c165 21_44516509_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 44516509 CT C 420 PASS U2AF1 Del intronic 1 4 MSH6 child 21_44516509_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 34e053bc-328e-11e6-bfa2-581f0e01a414 7_92071322_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 92071322 TA T 720 PASS - Del - 1 9 MSH6 child 7_92071322_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 34e2f5e4-329e-11e6-bc2c-2a5e25c9da85 4_83579512_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 83579512 GT G 840 PASS SCD5 Del intronic 1 5 MSH6 child 4_83579512_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 34e7b842-3274-11e6-a5d0-4fd14a47a305 2_160637746_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 160637746 AT A 600 PASS LY75-CD302 Del intronic 1 8 MSH6 child 2_160637746_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 34ec4ed2-3285-11e6-821e-69f1bbe6aa09 16_73116509_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 73116509 CT C 420 PASS - Del - 1 9 MSH6 child 16_73116509_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 34f27ab6-328d-11e6-b4fe-93c36f39e758 12_101774154_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 101774154 CA C 420 PASS UTP20 Del intronic 1 7 MSH6 child 12_101774154_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 34f5f364-3290-11e6-850b-ec0b9c6d3b88 4_67488146_GAGCG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 67488146 GAGC G 300 PASS - Del - 3 1 POLB child 4_67488146_GAGCG_POLB 3 3 2 AG 0 - Microhomology-mediated 34f5f404-3290-11e6-b52f-4eeb6f39e758 22_45209135_TACT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 45209135 TAC T 360 PASS ARHGAP8 Del intronic 2 8 MSH6 child 22_45209135_TACT_MSH6 2 2 2 AC 7 AC Repeat-mediated 34f7ca92-3324-11e6-9907-b3021a1589db 5_68320062_CAC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 5 68320062 CA C 780 PASS 7SK Del downstream 1 9 CHK2 parent 5_68320062_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 34fa463a-3272-11e6-be0b-bed2cde16804 14_105378986_CAAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 14 105378986 CAA C 480 PASS - Del - 2 6 MSH6 parent 14_105378986_CAAC_MSH6 2 2 2 AA 4 A Repeat-mediated 350c3a38-3273-11e6-bea5-e783a20b69d5 13_47982241_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 47982241 CA C 360 PASS - Del - 1 1 EXO1 child 13_47982241_CAC_EXO1 1 1 0 - 0 A None 35127a80-328a-11e6-a32d-75090e01a414 14_76757236_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 76757236 TA T 300 PASS RP11-516J2.1 Del intronic 1 9 MSH6 child 14_76757236_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3512a452-3289-11e6-a8ff-fbcd191589db 11_15734527_CTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 11 15734527 CT C 420 PASS RP11-396O20.2 Del intronic 1 9 FANCC child 11_15734527_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 3514cbe8-328d-11e6-a2cb-f3ac12ae24cf 5_125673728_CAC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 5 125673728 CA C 540 PASS - Del - 1 7 CHK2 child 5_125673728_CAC_CHK2 1 1 1 A 6 A Repeat-mediated 35195588-3255-11e6-9cd8-27f912ae24cf 7_37534621_GAG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 7 37534621 GA G 480 PASS - Del - 1 9 POLB child 7_37534621_GAG_POLB 1 1 1 A 8 A Repeat-mediated 351e4702-328a-11e6-a100-84090e01a414 18_63103494_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 63103494 TA T 360 PASS RP11-453M23.1 Del intronic 1 9 MSH6 child 18_63103494_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 351ec0d2-328b-11e6-9539-3490a178171f 3_131847403_TAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 131847403 TA T 888 PASS CPNE4 Del intronic 1 7 FANCC child 3_131847403_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 35200286-3320-11e6-b73c-6a3781635058 1_11570910_GAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 1 11570910 GA G 420 PASS PTCHD2 Del intronic 1 9 CHK2 child 1_11570910_GAG_CHK2 1 1 1 A 8 A Repeat-mediated 352adb34-328f-11e6-8952-77c36f39e758 10_119563477_TTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 119563477 T TC 720 PASS - Ins - 1 7 MSH6 child 10_119563477_TTC_MSH6 1 1 - - - - Ins 352d634e-326d-11e6-92dd-fda8977b3f23 10_56843223_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 56843223 TA T 660 PASS PCDH15 Del intronic 1 7 MSH6 child 10_56843223_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3537447e-329d-11e6-94ca-0aaecc638e3d X_23900358_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 23900358 CT C 720 PASS APOO Del intronic 1 8 MSH6 child X_23900358_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 353b55b6-3287-11e6-86e9-d4770d016689 X_144747149_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 144747149 TA T 420 PASS - Del - 1 8 EXO1 child X_144747149_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 353efd5c-3286-11e6-95c7-6dfa4430f757 11_47652982_CCA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 11 47652982 C CA 420 PASS MTCH2 Ins intronic 1 8 EXO1 child 11_47652982_CCA_EXO1 1 1 - - - - Ins 353f05b0-328e-11e6-b797-0ba0e7d0bdd7 7_126661396_ATA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 7 126661396 AT A 600 PASS GRM8 Del intronic 1 8 POLM child 7_126661396_ATA_POLM 1 1 1 T 7 T Repeat-mediated 354180ac-326f-11e6-b5b8-e0c24a47a305 X_16414576_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 16414576 AT A 600 PASS - Del - 1 6 MSH6 child X_16414576_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 35450a5c-329b-11e6-bda6-065325c9da85 13_106585314_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 106585314 CT C 840 PASS - Del - 1 8 MSH6 child 13_106585314_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3548222c-328d-11e6-b9c4-751d0e01a414 5_60103496_GTTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 60103496 GTT G 360 PASS ELOVL7 Del intronic 2 4 MSH6 child 5_60103496_GTTG_MSH6 2 2 2 TT 2 T Repeat-mediated 354cfdfe-3299-11e6-8f27-3d588cd8cd69 21_23982510_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 21 23982510 AT A 480 PASS - Del - 1 9 CHK2 child 21_23982510_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 355a7d3e-328b-11e6-8eee-76090e01a414 10_125130439_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 125130439 AT A 420 PASS RP11-282I1.1 Del intronic 1 4 MSH6 child 10_125130439_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 35687940-3270-11e6-acc7-e55219a91649 1_49281205_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 49281205 G GT 360 PASS AGBL4 Ins intronic 1 2 MSH6 child 1_49281205_GGT_MSH6 1 1 - - - - Ins 356b1186-328a-11e6-b74f-549ba2c71c31 20_38525069_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 38525069 GA G 660 PASS - Del - 1 9 MSH6 child 20_38525069_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 356d1344-328c-11e6-ac7a-a3c36f39e758 18_46352651_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 46352651 GA G 900 PASS CTIF Del intronic 1 8 MSH6 child 18_46352651_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 357951ca-3275-11e6-998e-ba48fa52e078 8_12949127_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 12949127 CA C 480 PASS DLC1 Del intronic 1 7 MSH6 child 8_12949127_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 357b1ce8-3271-11e6-b5b8-e0c24a47a305 X_124385497_ATCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 124385497 ATC A 420 PASS - Del - 2 6 MSH6 child X_124385497_ATCA_MSH6 2 2 2 TC 5 TC Repeat-mediated 357bd43a-3294-11e6-8371-bc370d016689 15_76486363_CCT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 15 76486363 C CT 360 PASS C15orf27 Ins intronic 1 9 NUDT1 child 15_76486363_CCT_NUDT1 1 1 - - - - Ins 35825166-3271-11e6-9fba-41ebd8b4fa2c 11_40865790_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 40865790 A AT 300 PASS LRRC4C Ins intronic 1 1 MSH6 child 11_40865790_AAT_MSH6 1 1 - - - - Ins 35830b66-3284-11e6-ae72-519738e8a824 5_40851137_TAAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 5 40851137 TAA T 300 PASS CARD6 Del intronic 2 9 POLE parent 5_40851137_TAAT_POLE 2 2 2 AA 7 A Repeat-mediated 3584092e-328b-11e6-8459-82090e01a414 12_113972163_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 113972163 AT A 420 PASS - Del - 1 8 MSH6 child 12_113972163_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 358cfe72-3271-11e6-9309-bdc34a47a305 8_99125669_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 99125669 GT G 360 PASS POP1 Del upstream 1 8 MSH6 child 8_99125669_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3599c434-3282-11e6-9b68-79e41da8ec0e 2_139048864_GACAAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 139048864 GACAA G 872 PASS - Del - 4 1 EXO1 child 2_139048864_GACAAG_EXO1 4 4 3 ACA 0 - Microhomology-mediated 359f7e50-3328-11e6-81bd-c0e680635058 20_12232916_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 20 12232916 AT A 360 PASS - Del - 1 7 CHK2 child 20_12232916_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 35a76678-3275-11e6-975f-8246cab49462 16_78609874_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 78609874 A AT 480 PASS WWOX Ins intronic 1 6 MSH6 child 16_78609874_AAT_MSH6 1 1 - - - - Ins 35ad842a-3286-11e6-b093-c9c7b0dab373 2_148563676_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 148563676 CA C 720 PASS - Del - 1 8 MSH6 child 2_148563676_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 35b829de-327c-11e6-b5e3-cd90e7d0bdd7 X_106876242_ATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA X 106876242 AT A 720 PASS PRPS1 Del intronic 1 5 FANCC parent X_106876242_ATA_FANCC 1 1 1 T 4 T Repeat-mediated 35bb81b6-328a-11e6-9c89-8d090e01a414 1_46449330_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 46449330 AT A 420 PASS MAST2 Del intronic 1 8 MSH6 child 1_46449330_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 35bd1b6e-3273-11e6-975f-8246cab49462 16_48021057_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 48021057 GA G 720 PASS - Del - 1 7 MSH6 child 16_48021057_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 35bf7ee6-3254-11e6-89d3-d29498816cf3 2_74038840_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 74038840 GT G 540 PASS C2orf78 Del intronic 1 9 MSH6 child 2_74038840_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 35c62e48-3291-11e6-b1b9-2968694da5d2 8_60045029_CTC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 8 60045029 CT C 720 PASS - Del - 1 5 POLM child 8_60045029_CTC_POLM 1 1 1 T 4 T Repeat-mediated 35c923be-329b-11e6-a5cf-205325c9da85 11_83919003_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 83919003 GA G 660 PASS DLG2 Del intronic 1 6 MSH6 child 11_83919003_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 35cbb270-3276-11e6-be3d-b594a20b69d5 4_82784745_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 4 82784745 TA T 660 PASS RP11-689K5.3 Del intronic 1 9 EXO1 child 4_82784745_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 35d5cd5e-328b-11e6-b242-94e95d753391 1_92960125_CATAAACCTTAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 1 92960125 CATAAAC CTTAT 360 PASS - Complex - 6 0 POLE child 1_92960125_CATAAACCTTAT_POLE 2 2 - - - - Complex 35d78306-3286-11e6-9a94-1d822aaffa45 6_122149021_AGA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 6 122149021 AG A 660 PASS - Del - 1 6 POLE child 6_122149021_AGA_POLE 1 1 1 G 5 G Repeat-mediated 35d7f9a6-326f-11e6-acc7-e55219a91649 1_229482150_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 229482150 CT C 300 PASS CCSAP Del upstream 1 9 MSH6 child 1_229482150_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 35e3727a-3276-11e6-b582-0da1cc638e3d 4_171440348_CAC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 4 171440348 CA C 540 PASS - Del - 1 7 CHK2 child 4_171440348_CAC_CHK2 1 1 1 A 6 A Repeat-mediated 35ef3104-3277-11e6-a5d0-4fd14a47a305 2_164599077_TTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 164599077 T TC 360 PASS - Ins - 1 1 MSH6 child 2_164599077_TTC_MSH6 1 1 - - - - Ins 35f7981c-3286-11e6-81fd-f903987b3f23 2_155856094_CCA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 2 155856094 C CA 420 PASS - Ins - 1 6 NEIL1 parent 2_155856094_CCA_NEIL1 1 1 - - - - Ins 361ad952-328c-11e6-bd84-429305ad5bc4 1_86595132_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 86595132 AT A 540 PASS COL24A1 Del intronic 1 9 MSH6 child 1_86595132_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 36214b80-328b-11e6-a80b-87090e01a414 11_119824258_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 119824258 GT G 600 PASS - Del - 1 8 MSH6 child 11_119824258_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 36230434-3277-11e6-b7b5-ce91a78019ab 5_43784526_GAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 43784526 GA G 540 PASS - Del - 1 8 NEIL1 child 5_43784526_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 362fc77e-3276-11e6-b4af-f7b420e7b7a8 7_90461807_GTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 7 90461807 GT G 840 PASS CDK14 Del intronic 1 9 NUDT1 child 7_90461807_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated 363b6724-3324-11e6-9432-0b923cfdbd24 9_112965468_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 9 112965468 CT C 540 PASS C9orf152 Del intronic 1 8 EXO1 child 9_112965468_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 363c66fa-328a-11e6-8909-3ebb38e8a824 9_128684317_GCG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 9 128684317 GC G 720 PASS PBX3 Del intronic 1 1 NUDT1 parent 9_128684317_GCG_NUDT1 1 1 0 - 0 C None 3642ee72-3289-11e6-997d-e46e3adbad45 12_84015275_CCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 12 84015275 C CT 480 PASS - Ins - 1 8 NUDT1 parent 12_84015275_CCT_NUDT1 1 1 - - - - Ins 3643e238-3297-11e6-bfe3-c11ec7271a47 2_77608935_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 77608935 TA T 420 PASS LRRTM4 Del intronic 1 5 CHK2 child 2_77608935_TAT_CHK2 1 1 1 A 4 A Repeat-mediated 36480e5e-329b-11e6-a5cf-205325c9da85 11_84080253_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 84080253 GA G 540 PASS DLG2 Del intronic 1 9 MSH6 child 11_84080253_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 364d7e3e-328c-11e6-bb2d-24a320e7b7a8 X_122758765_GAG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA X 122758765 GA G 420 PASS THOC2 Del intronic 1 9 POLE child X_122758765_GAG_POLE 1 1 1 A 8 A Repeat-mediated 36512a7c-3271-11e6-90d3-9639fc77b11e 13_29333342_TGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 13 29333342 TG T 420 PASS - Del - 1 2 MSH6 parent 13_29333342_TGT_MSH6 1 1 1 G 1 G Repeat-mediated 36546dca-328c-11e6-9c89-8d090e01a414 1_174258092_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 174258092 AT A 660 PASS RABGAP1L Del intronic 1 6 MSH6 child 1_174258092_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 365c7aca-3281-11e6-a744-d08f38e8a824 16_13258037_GTG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 16 13258037 GT G 540 PASS SHISA9 Del intronic 1 7 POLE parent 16_13258037_GTG_POLE 1 1 1 T 6 T Repeat-mediated 36678140-32a4-11e6-b970-398625c9da85 20_55290762_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 55290762 G GT 1080 PASS - Ins - 1 4 MSH6 child 20_55290762_GGT_MSH6 1 1 - - - - Ins 3675155e-3258-11e6-9d15-298312ae24cf X_112358720_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 112358720 AT A 420 PASS - Del - 1 8 MSH6 child X_112358720_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3675ace4-3285-11e6-9f05-70ef1da8ec0e 10_130231636_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 130231636 TA T 360 PASS - Del - 1 8 EXO1 child 10_130231636_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 367df8d2-3275-11e6-a862-bc9becf1e924 1_191418158_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 191418158 TA T 360 PASS - Del - 1 8 MSH6 child 1_191418158_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 367f7bb2-3284-11e6-89eb-f2eacdacbbbf 4_176192436_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 176192436 AT A 600 PASS - Del - 1 9 EXO1 child 4_176192436_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 3687163e-328d-11e6-b8e6-91c36f39e758 11_111197359_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 111197359 AC A 480 PASS - Del - 1 6 MSH6 child 11_111197359_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 36a37310-3288-11e6-9955-19979cdf095d 8_107589446_GGT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 107589446 G GT 400 PASS OXR1 Ins intronic 1 9 POLE child 8_107589446_GGT_POLE 1 1 - - - - Ins 36a479c4-328b-11e6-b9eb-c78fa2c71c31 6_170792930_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 170792930 C CT 420 PASS - Ins - 1 8 MSH6 child 6_170792930_CCT_MSH6 1 1 - - - - Ins 36a7dbf0-3290-11e6-9483-bc0c9c6d3b88 5_53041636_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 5 53041636 AT A 600 PASS - Del - 1 8 POLB child 5_53041636_ATA_POLB 1 1 1 T 7 T Repeat-mediated 36b96c22-3258-11e6-885f-d1947872c165 4_146789316_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 146789316 TA T 840 PASS ZNF827 Del intronic 1 6 MSH6 child 4_146789316_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 36bca25a-328c-11e6-b8e6-91c36f39e758 11_43462958_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 43462958 TA T 360 PASS TTC17 Del intronic 1 9 MSH6 child 11_43462958_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 36bec294-3276-11e6-bb72-cbe0f6d33ce3 1_181561931_GCAG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 1 181561931 GCA G 420 PASS CACNA1E Del intronic 2 8 POLM child 1_181561931_GCAG_POLM 2 2 2 CA 7 CA Repeat-mediated 36c9ab40-3290-11e6-8e48-791e0e01a414 8_17578420_AAAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 17578420 A AAC 600 PASS MTUS1 Ins intronic 2 3 MSH6 child 8_17578420_AAAC_MSH6 2 2 - - - - Ins 36ca6f8c-3275-11e6-a5d0-4fd14a47a305 2_242099109_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 242099109 CT C 420 PASS PPP1R7 Del intronic 1 8 MSH6 child 2_242099109_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 36cd8adc-328e-11e6-81d1-7ea5e7d0bdd7 3_52579978_TTTTTAAAAAAAACTTAATTAGGGCCT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 3 52579978 TTTTTAAAAAAAACTTAATTAGGGCC T 600 PASS PBRM1 Del downstream 25 1 POLM child 3_52579978_TTTTTAAAAAAAACTTAATTAGGGCCT_POLM 25 >=10 1 T 0 - Microhomology-mediated 36da5f36-3280-11e6-87e4-1c233dc9300a 2_201585709_GAG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 2 201585709 GA G 600 PASS AC007163.3 Del intronic 1 7 NEIL1 child 2_201585709_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated 36e52896-327e-11e6-8a95-4ae6b41afd22 X_35078498_GAG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA X 35078498 GA G 420 PASS - Del - 1 9 POLM child X_35078498_GAG_POLM 1 1 1 A 8 A Repeat-mediated 36e5d4d6-3287-11e6-9766-8c8ca2c71c31 22_17576485_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 17576485 CT C 900 PASS IL17RA Del intronic 1 9 MSH6 child 22_17576485_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 36eb9a0c-3295-11e6-9993-7f46fa52e078 8_99053936_AATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 8 99053936 AAT A 600 PASS RPL30 Del downstream 2 1 NUDT1 child 8_99053936_AATA_NUDT1 2 2 1 A 0 - Microhomology-mediated 36f88fa2-3270-11e6-89e3-9dd52aaffa45 10_132962725_TAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 10 132962725 TA T 291 PASS TCERG1L Del intronic 1 7 NEIL1 child 10_132962725_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated 36ffc4c2-328c-11e6-919e-92c36f39e758 2_46468856_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 46468856 AT A 480 PASS - Del - 1 9 MSH6 child 2_46468856_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 370773a0-3293-11e6-a1c8-fb347a852e0e 7_42816213_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 7 42816213 AT A 600 PASS - Del - 1 4 CHK2 child 7_42816213_ATA_CHK2 1 1 1 T 3 T Repeat-mediated 370e5388-3274-11e6-a06f-b3ac8a20d9eb 17_74229951_TACCACAGAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 17 74229951 TACCACAGA T 360 PASS RNF157 Del intronic 8 1 EXO1 child 17_74229951_TACCACAGAT_EXO1 8 8 1 A 0 - Microhomology-mediated 370efd44-3277-11e6-9019-27a01da8ec0e 6_84139867_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 6 84139867 CA C 780 PASS ME1 Del intronic 1 4 FANCC child 6_84139867_CAC_FANCC 1 1 1 A 3 A Repeat-mediated 37124392-328f-11e6-92cf-bf2a0e01a414 6_28813247_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 28813247 CA C 300 PASS - Del - 1 8 MSH6 child 6_28813247_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 3728b010-3324-11e6-a5dc-75b8cde16804 1_224112113_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 224112113 CA C 260 PASS - Del - 1 5 EXO1 child 1_224112113_CAC_EXO1 1 1 1 A 4 A Repeat-mediated 373053de-328d-11e6-b9c4-751d0e01a414 5_60489196_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 60489196 CT C 300 PASS - Del - 1 9 MSH6 child 5_60489196_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 373a4296-3273-11e6-a5d0-4fd14a47a305 2_69982742_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 69982742 CA C 360 PASS ANXA4 Del intronic 1 7 MSH6 child 2_69982742_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 373a97a0-328c-11e6-b805-77090e01a414 2_197158813_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 197158813 TA T 420 PASS HECW2 Del intronic 1 7 MSH6 child 2_197158813_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 373c67e8-329a-11e6-b74d-b59fcc638e3d 18_25147039_TAAAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 25147039 TAAA T 720 PASS RP11-739N10.1 Del intronic 3 9 MSH6 child 18_25147039_TAAAT_MSH6 3 3 3 AAA 6 A Repeat-mediated 37449f60-3274-11e6-be8c-25f524864c47 12_90840295_AAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 12 90840295 A AT 540 PASS - Ins - 1 5 CHK2 child 12_90840295_AAT_CHK2 1 1 - - - - Ins 3748d7c0-3255-11e6-89d3-d29498816cf3 2_183395899_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 183395899 TA T 600 PASS - Del - 1 9 MSH6 child 2_183395899_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 374a461c-3275-11e6-ab69-1c1607e9a829 9_37872049_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 37872049 CA C 780 PASS DCAF10 Del downstream 1 8 MSH6 child 9_37872049_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 37590066-3271-11e6-b5b8-e0c24a47a305 X_125264150_TTAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 125264150 TTA T 300 PASS - Del - 2 7 MSH6 child X_125264150_TTAT_MSH6 2 2 2 TA 6 TA Repeat-mediated 3763a624-328a-11e6-b74f-549ba2c71c31 20_39790394_GCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 39790394 GC G 300 PASS PLCG1 Del intronic 1 8 MSH6 child 20_39790394_GCG_MSH6 1 1 1 C 7 C Repeat-mediated 3765d71a-3257-11e6-b4d0-327a7872c165 11_123450515_TTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 123450515 T TG 480 PASS GRAMD1B Ins intronic 1 3 MSH6 child 11_123450515_TTG_MSH6 1 1 - - - - Ins 376976b2-329e-11e6-a0ea-135325c9da85 15_74852372_TTAAAAAAAAAAAAAAAAAAAAAA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 74852372 T TAAAAAAAAAAAAAAAAAAAAAA 300 PASS ARID3B Ins intronic 22 9 MSH6 child 15_74852372_TTAAAAAAAAAAAAAAAAAAAAAA_MSH6 22 >=10 - - - - Ins 376eaa40-334a-11e6-a997-309d38e8a824 4_142173892_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 142173892 CA C 420 PASS RP11-586L23.1 Del intronic 1 9 FANCC child 4_142173892_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 377b98ee-3292-11e6-9d97-efe56f39e758 4_45292056_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 45292056 C CT 600 PASS - Ins - 1 7 MSH6 child 4_45292056_CCT_MSH6 1 1 - - - - Ins 377bac9c-328a-11e6-b805-77090e01a414 2_62666391_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 62666391 CT C 300 PASS - Del - 1 9 MSH6 child 2_62666391_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 37874248-326f-11e6-acc7-e55219a91649 1_229814072_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 229814072 AT A 360 PASS - Del - 1 7 MSH6 child 1_229814072_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 37966e8c-3254-11e6-9f9d-2c7a7872c165 12_47321284_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 47321284 AC A 360 PASS - Del - 1 2 MSH6 child 12_47321284_ACA_MSH6 1 1 1 C 1 C Repeat-mediated 379b96f6-3258-11e6-b04f-1ca12aaffa45 8_50775757_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 8 50775757 CA C 480 PASS - Del - 1 8 POLM child 8_50775757_CAC_POLM 1 1 1 A 7 A Repeat-mediated 379c50a8-3273-11e6-a529-d95c66a58581 9_37541096_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 9 37541096 CA C 300 PASS FBXO10 Del intronic 1 7 FANCC child 9_37541096_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 37a608de-3276-11e6-88b6-40832aaffa45 1_241594424_CAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 241594424 CA C 600 PASS RP11-527D7.1 Del intronic 1 4 EXO1 child 1_241594424_CAC_EXO1 1 1 1 A 3 A Repeat-mediated 37b4908e-328a-11e6-9b74-edcd191589db 10_84100647_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 10 84100647 CA C 300 PASS NRG3 Del intronic 1 9 FANCC child 10_84100647_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 37b6a90e-327c-11e6-8723-889be7d0bdd7 2_13784626_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 13784626 CT C 600 PASS - Del - 1 6 NUDT1 child 2_13784626_CTC_NUDT1 1 1 1 T 5 T Repeat-mediated 37b75048-328b-11e6-9f90-12d335cec73b 20_33573904_TCTCT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 20 33573904 TCTC T 420 PASS MYH7B Del inframe 3 1 POLE child 20_33573904_TCTCT_POLE 3 3 2 CT 0 - Microhomology-mediated 37bc4cfa-3273-11e6-b923-6726694da5d2 5_90643650_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 90643650 C CA 660 PASS - Ins - 1 1 MSH6 child 5_90643650_CCA_MSH6 1 1 - - - - Ins 37bf91e0-3272-11e6-841e-3c0fc7271a47 12_93805459_GTG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 12 93805459 GT G 480 PASS UBE2N Del intronic 1 8 MSH6 parent 12_93805459_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 37ce954a-3273-11e6-923c-a6d5ed3c4f5d 4_132265480_CAAC . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 4 132265480 CAA C 540 PASS - Del - 2 3 POLB child 4_132265480_CAAC_POLB 2 2 1 A 0 - Microhomology-mediated 37d112f4-3276-11e6-b439-e34b3cfdbd24 2_122099596_GGA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 122099596 G GA 480 PASS CLASP1 Ins intronic 1 7 MSH6 parent 2_122099596_GGA_MSH6 1 1 - - - - Ins 37d26990-326e-11e6-acc7-e55219a91649 1_153728339_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 153728339 AC A 480 PASS INTS3 Del intronic 1 4 MSH6 child 1_153728339_ACA_MSH6 1 1 1 C 3 C Repeat-mediated 37d82504-3270-11e6-acc7-e55219a91649 1_50971044_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 50971044 C CA 720 PASS FAF1 Ins intronic 1 3 MSH6 child 1_50971044_CCA_MSH6 1 1 - - - - Ins 37d8cf52-3272-11e6-b4bf-85eb97ba1142 2_34661523_CCA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 34661523 C CA 540 PASS AC073218.1 Ins intronic 1 5 EXO1 parent 2_34661523_CCA_EXO1 1 1 - - - - Ins 37dbec68-3322-11e6-9b79-b58f0cfb5812 1_232131071_CTC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 1 232131071 CT C 434 PASS DISC1 Del intronic 1 7 POLE child 1_232131071_CTC_POLE 1 1 1 T 6 T Repeat-mediated 37dcd646-32a0-11e6-a04f-c66a25c9da85 6_56221774_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 56221774 AT A 720 PASS COL21A1 Del intronic 1 8 MSH6 child 6_56221774_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 37de417e-325b-11e6-a39a-dc8512ae24cf 8_83150108_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 83150108 C CA 600 PASS - Ins - 1 6 MSH6 child 8_83150108_CCA_MSH6 1 1 - - - - Ins 37e14b2a-329d-11e6-ae71-0c5325c9da85 1_197114791_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 197114791 TA T 780 PASS ASPM Del intronic 1 6 MSH6 child 1_197114791_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 37e4bb70-3289-11e6-bae2-7096cdacbbbf 18_31776013_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 18 31776013 CA C 420 PASS NOL4 Del intronic 1 9 FANCC child 18_31776013_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 37e52c86-3289-11e6-a7cf-80090e01a414 15_20416000_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 20416000 CA C 420 PASS - Del - 1 7 MSH6 child 15_20416000_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 37e5da98-3287-11e6-9bb4-ea6e3adbad45 13_46600647_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 13 46600647 CT C 480 PASS ZC3H13 Del intronic 1 8 NUDT1 parent 13_46600647_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 37eaf690-328c-11e6-88c1-95c36f39e758 14_61283710_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 61283710 CT C 420 PASS MNAT1 Del intronic 1 9 MSH6 child 14_61283710_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3803869e-3285-11e6-9f05-70ef1da8ec0e 10_131035246_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 131035246 CA C 300 PASS - Del - 1 8 EXO1 child 10_131035246_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 38176c94-326d-11e6-acc7-e55219a91649 1_66376617_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 66376617 CT C 420 PASS PDE4B Del intronic 1 9 MSH6 child 1_66376617_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 381947ee-329a-11e6-8d0f-075325c9da85 14_39967880_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 39967880 CA C 480 PASS RP11-111A21.1 Del intronic 1 9 MSH6 child 14_39967880_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 38270884-3277-11e6-a8d8-3e6075253f64 3_130091286_TTAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 130091286 TTA T 900 PASS COL6A5 Del intronic 2 7 FANCC child 3_130091286_TTAT_FANCC 2 2 2 TA 6 TA Repeat-mediated 383f5952-3281-11e6-97a4-78cfaa716c52 5_126166559_GGATAGCTTGAACGGTGGTTGA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 5 126166559 G GATAGCTTGAACGGTGGTTGA 660 PASS LMNB1 Ins intronic 20 0 POLB parent 5_126166559_GGATAGCTTGAACGGTGGTTGA_POLB 20 >=10 - - - - Ins 3844aeb0-3291-11e6-906c-71dad8b4fa2c 15_23903530_TTTCAGCCTGAAAAACTTTCCTTAGCATTTCTCATAGTGTAGATCTGCATGAAACAAATCCCCTCAGTCTTTGTCTGATGATGACTTTATTTCACTTTCATTTTGTAAAGAAATTTTGTTGGATATAGAATTATAAACAGACAATCCTATTTTTCCTTAAACCAGACACATAGACCAATGGAACAGAATGAATAACACACAAATTAACCCACTCATTTAGAGCCAACTGATATTCAACAAAGGTACCAAAATATACAATGAGGAATGGGCAGTCTCTTCAATAAAGGTTGTCGGAAGAACTGGATATCCTTGTGCAAATAAATGAAATTAGACCCTTATCATTCACCAAATACAAAAATTGACTTAATATGGATGAAATACTTAAACGTAAGACCTGGAAATATAAAACTACTAGAAGAAATCATAGGGGAAAAGCTCTATGACATTGGTTTGGGCACTGATTTTTTGGATAAGCCTCAAAAGCACAAGCAACAAAAGCAAAAATAGATAAATGGGATTATATCAAACTAACAAGCTTCTGCACAGCAAAGGAAAGAATCCACAAACTGAAGAGACAACCTACAGAACAGGAGAAAATATCTGCAAATTATATATCTGACAAGAGGTTAATATCCAGAACTTATAAGAACCTCAAAGAGGCTGGTGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 15 23903530 TTTCAGCCTGAAAAACTTTCCTTAGCATTTCTCATAGTGTAGATCTGCATGAAACAAATCCCCTCAGTCTTTGTCTGATGATGACTTTATTTCACTTTCATTTTGTAAAGAAATTTTGTTGGATATAGAATTATAAACAGACAATCCTATTTTTCCTTAAACCAGACACATAGACCAATGGAACAGAATGAATAACACACAAATTAACCCACTCATTTAGAGCCAACTGATATTCAACAAAGGTACCAAAATATACAATGAGGAATGGGCAGTCTCTTCAATAAAGGTTGTCGGAAGAACTGGATATCCTTGTGCAAATAAATGAAATTAGACCCTTATCATTCACCAAATACAAAAATTGACTTAATATGGATGAAATACTTAAACGTAAGACCTGGAAATATAAAACTACTAGAAGAAATCATAGGGGAAAAGCTCTATGACATTGGTTTGGGCACTGATTTTTTGGATAAGCCTCAAAAGCACAAGCAACAAAAGCAAAAATAGATAAATGGGATTATATCAAACTAACAAGCTTCTGCACAGCAAAGGAAAGAATCCACAAACTGAAGAGACAACCTACAGAACAGGAGAAAATATCTGCAAATTATATATCTGACAAGAGGTTAATATCCAGAACTTATAAGAACCTCAAAGAGGCTGGTGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAG T 420 PASS - Del - 733 1 NUDT1 child 15_23903530_TTTCAGCCTGAAAAACTTTCCTTAGCATTTCTCATAGTGTAGATCTGCATGAAACAAATCCCCTCAGTCTTTGTCTGATGATGACTTTATTTCACTTTCATTTTGTAAAGAAATTTTGTTGGATATAGAATTATAAACAGACAATCCTATTTTTCCTTAAACCAGACACATAGACCAATGGAACAGAATGAATAACACACAAATTAACCCACTCATTTAGAGCCAACTGATATTCAACAAAGGTACCAAAATATACAATGAGGAATGGGCAGTCTCTTCAATAAAGGTTGTCGGAAGAACTGGATATCCTTGTGCAAATAAATGAAATTAGACCCTTATCATTCACCAAATACAAAAATTGACTTAATATGGATGAAATACTTAAACGTAAGACCTGGAAATATAAAACTACTAGAAGAAATCATAGGGGAAAAGCTCTATGACATTGGTTTGGGCACTGATTTTTTGGATAAGCCTCAAAAGCACAAGCAACAAAAGCAAAAATAGATAAATGGGATTATATCAAACTAACAAGCTTCTGCACAGCAAAGGAAAGAATCCACAAACTGAAGAGACAACCTACAGAACAGGAGAAAATATCTGCAAATTATATATCTGACAAGAGGTTAATATCCAGAACTTATAAGAACCTCAAAGAGGCTGGTGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGT_NUDT1 733 >=10 3 TTC 0 - Microhomology-mediated 384ba71c-328a-11e6-a100-84090e01a414 18_63808081_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 63808081 GA G 540 PASS - Del - 1 9 MSH6 child 18_63808081_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 384c5b78-328d-11e6-bd84-429305ad5bc4 1_226701720_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 226701720 CA C 360 PASS - Del - 1 7 MSH6 child 1_226701720_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 38579f2e-328d-11e6-a878-4bab4430f757 18_61218530_CAC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 18 61218530 CA C 300 PASS SERPINB12 Del upstream 1 8 POLE child 18_61218530_CAC_POLE 1 1 1 A 7 A Repeat-mediated 38617226-329f-11e6-a04f-c66a25c9da85 6_3072168_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 3072168 AT A 540 PASS RIPK1 Del intronic 1 5 MSH6 child 6_3072168_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 3862b512-3274-11e6-9241-55e60d01a414 8_17181527_CCTTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 8 17181527 CCTT C 660 PASS MTMR7 Del intronic 3 2 MSH6 parent 8_17181527_CCTTC_MSH6 3 3 3 CTT 1 CTT Repeat-mediated 38691854-3327-11e6-95a6-476ac042253c 3_156795808_GGTGAAAAAAAATAGCCCCTAAGGGGAGAAAAAGGGCAAAGTGGTGAAATGCTGTATAATTTAAATGCATTTGCAAGACTCTCCTCTCCCAACTGTCAGAGCAGAACACCATGCTGCTTTCATTTTTAAAAAAACAAAACAAAAACCTCCAAAGAGAAGAAGAACACCTAGTTATGACTATCATTTCCTTTCCTCCATGGCTTCCCTCTTCCACCTTTATCCCTTAAAGCAGTAGCTCTCAACCAGGGGCTTTGCTCCCCCAGCACACCCTAGCGACTTCTGGCAATGTCTAAAAATGGTGGGGCATGCTACTGGCATCTATGGGTAGAGACCAGAAATGCTGCAAAATGTCCAGCAACGCTCACGACAGCCCCCACGACAGAATTATCCAACCCAAGATGTCAACATGCTGCTGTTGAGAAACCTGGCCTTTAGAAGCAGTCTTCTAATCTTATTTTCTAAGAATAAGAAAATATTATTCTTAGTTTATCCTGCAGCTAAACAAAATGCATAGGAAAAGATTCATCATGAGGAAGGGGGCAATGGTGACTAAGAACTTCACAAAGTCCTGAACCATTCAACCTTCATTCTGAGAGGATGGACGATCAGATTTAGTGATTCACTTCTCTGATTGTAAGTATCATCTTCTGAAGTCCATTAAGTGTTTAGTCATGCCCTGTGTTTTTGTCAAGTGGTAGGCAAAGGGAGTTAAGTGGAACCTCAGTCCCCTAAGAGTTTATCATCTAAGATGGGTAACAATGACTAGGCAGAGATATAAAGGTGAGATGGACAAATAACCAAACTACAGAGTAAGGCCAAACCAATTGCAGAAGCTGGGAGCTGAGCATAGTGTGAGGAATGCGGAGGGCAAGTTATCCAAGTGAGTAGGTGGCATTAAAGAGAAGAACTAGGGACGGCATCACTCTGCACCTCCATTTATCCATTTGCTTTCACTAAAATATGTACCACATGCTTCTGGGCATGCAGAAGTACATTTCACACTCCAAGCACTTGCAATCAAGCCAGTGTGATAAGATTCATACACAAATAAGCAAAACACAAAAATTCCATTCTGAGAGGTATAGCAAGTACATGTCACAGTGCTTAGAGAAAGAACTGATGCCTGCATGTGGTGGAACTGGCATTTGGCTGGGCCTTGGAGTGTGGGGGCTACTGGGGAGCAGAGCCTGCCTGAGAATCTAGGGCAGGGTGGCAGCAGGGGTGTTCGCTGTCCTACAGACAAGAATCTCCAAAAATGGAGTTCTGGCTTAAGGTGTTTGTCCTGGCTTATCTTTTGGCCACTCAACAAAACTTTCTGTGCCTCATTTTCTCTCTTCTTCCCATTTCCAAGCAACAAAACCATGTCCATCTACTCTTATTAAAAATCTCCAAGAGTGGTGTCTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGAGGCTGGAAGATTGCTTGAGGCTAAGAGTTCAAGACCAGCCTGGACAACATAAGGAAACCCTTTTTCCGAACAAATAAAAATAAAAATTATTTTTTTTGTAGGTATGGCAGCACGCGCCCATAGTCCCAGTTGCTCAGGAGCCCAGGAGTTCAAGGCTGCAGTGAACCATGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACAACATACCAAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 156795808 GGTGAAAAAAAATAGCCCCTAAGGGGAGAAAAAGGGCAAAGTGGTGAAATGCTGTATAATTTAAATGCATTTGCAAGACTCTCCTCTCCCAACTGTCAGAGCAGAACACCATGCTGCTTTCATTTTTAAAAAAACAAAACAAAAACCTCCAAAGAGAAGAAGAACACCTAGTTATGACTATCATTTCCTTTCCTCCATGGCTTCCCTCTTCCACCTTTATCCCTTAAAGCAGTAGCTCTCAACCAGGGGCTTTGCTCCCCCAGCACACCCTAGCGACTTCTGGCAATGTCTAAAAATGGTGGGGCATGCTACTGGCATCTATGGGTAGAGACCAGAAATGCTGCAAAATGTCCAGCAACGCTCACGACAGCCCCCACGACAGAATTATCCAACCCAAGATGTCAACATGCTGCTGTTGAGAAACCTGGCCTTTAGAAGCAGTCTTCTAATCTTATTTTCTAAGAATAAGAAAATATTATTCTTAGTTTATCCTGCAGCTAAACAAAATGCATAGGAAAAGATTCATCATGAGGAAGGGGGCAATGGTGACTAAGAACTTCACAAAGTCCTGAACCATTCAACCTTCATTCTGAGAGGATGGACGATCAGATTTAGTGATTCACTTCTCTGATTGTAAGTATCATCTTCTGAAGTCCATTAAGTGTTTAGTCATGCCCTGTGTTTTTGTCAAGTGGTAGGCAAAGGGAGTTAAGTGGAACCTCAGTCCCCTAAGAGTTTATCATCTAAGATGGGTAACAATGACTAGGCAGAGATATAAAGGTGAGATGGACAAATAACCAAACTACAGAGTAAGGCCAAACCAATTGCAGAAGCTGGGAGCTGAGCATAGTGTGAGGAATGCGGAGGGCAAGTTATCCAAGTGAGTAGGTGGCATTAAAGAGAAGAACTAGGGACGGCATCACTCTGCACCTCCATTTATCCATTTGCTTTCACTAAAATATGTACCACATGCTTCTGGGCATGCAGAAGTACATTTCACACTCCAAGCACTTGCAATCAAGCCAGTGTGATAAGATTCATACACAAATAAGCAAAACACAAAAATTCCATTCTGAGAGGTATAGCAAGTACATGTCACAGTGCTTAGAGAAAGAACTGATGCCTGCATGTGGTGGAACTGGCATTTGGCTGGGCCTTGGAGTGTGGGGGCTACTGGGGAGCAGAGCCTGCCTGAGAATCTAGGGCAGGGTGGCAGCAGGGGTGTTCGCTGTCCTACAGACAAGAATCTCCAAAAATGGAGTTCTGGCTTAAGGTGTTTGTCCTGGCTTATCTTTTGGCCACTCAACAAAACTTTCTGTGCCTCATTTTCTCTCTTCTTCCCATTTCCAAGCAACAAAACCATGTCCATCTACTCTTATTAAAAATCTCCAAGAGTGGTGTCTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGAGGCTGGAAGATTGCTTGAGGCTAAGAGTTCAAGACCAGCCTGGACAACATAAGGAAACCCTTTTTCCGAACAAATAAAAATAAAAATTATTTTTTTTGTAGGTATGGCAGCACGCGCCCATAGTCCCAGTTGCTCAGGAGCCCAGGAGTTCAAGGCTGCAGTGAACCATGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACAACATACCAA G 660 PASS LINC00880 Del downstream 1697 1 CHK2 child 3_156795808_GGTGAAAAAAAATAGCCCCTAAGGGGAGAAAAAGGGCAAAGTGGTGAAATGCTGTATAATTTAAATGCATTTGCAAGACTCTCCTCTCCCAACTGTCAGAGCAGAACACCATGCTGCTTTCATTTTTAAAAAAACAAAACAAAAACCTCCAAAGAGAAGAAGAACACCTAGTTATGACTATCATTTCCTTTCCTCCATGGCTTCCCTCTTCCACCTTTATCCCTTAAAGCAGTAGCTCTCAACCAGGGGCTTTGCTCCCCCAGCACACCCTAGCGACTTCTGGCAATGTCTAAAAATGGTGGGGCATGCTACTGGCATCTATGGGTAGAGACCAGAAATGCTGCAAAATGTCCAGCAACGCTCACGACAGCCCCCACGACAGAATTATCCAACCCAAGATGTCAACATGCTGCTGTTGAGAAACCTGGCCTTTAGAAGCAGTCTTCTAATCTTATTTTCTAAGAATAAGAAAATATTATTCTTAGTTTATCCTGCAGCTAAACAAAATGCATAGGAAAAGATTCATCATGAGGAAGGGGGCAATGGTGACTAAGAACTTCACAAAGTCCTGAACCATTCAACCTTCATTCTGAGAGGATGGACGATCAGATTTAGTGATTCACTTCTCTGATTGTAAGTATCATCTTCTGAAGTCCATTAAGTGTTTAGTCATGCCCTGTGTTTTTGTCAAGTGGTAGGCAAAGGGAGTTAAGTGGAACCTCAGTCCCCTAAGAGTTTATCATCTAAGATGGGTAACAATGACTAGGCAGAGATATAAAGGTGAGATGGACAAATAACCAAACTACAGAGTAAGGCCAAACCAATTGCAGAAGCTGGGAGCTGAGCATAGTGTGAGGAATGCGGAGGGCAAGTTATCCAAGTGAGTAGGTGGCATTAAAGAGAAGAACTAGGGACGGCATCACTCTGCACCTCCATTTATCCATTTGCTTTCACTAAAATATGTACCACATGCTTCTGGGCATGCAGAAGTACATTTCACACTCCAAGCACTTGCAATCAAGCCAGTGTGATAAGATTCATACACAAATAAGCAAAACACAAAAATTCCATTCTGAGAGGTATAGCAAGTACATGTCACAGTGCTTAGAGAAAGAACTGATGCCTGCATGTGGTGGAACTGGCATTTGGCTGGGCCTTGGAGTGTGGGGGCTACTGGGGAGCAGAGCCTGCCTGAGAATCTAGGGCAGGGTGGCAGCAGGGGTGTTCGCTGTCCTACAGACAAGAATCTCCAAAAATGGAGTTCTGGCTTAAGGTGTTTGTCCTGGCTTATCTTTTGGCCACTCAACAAAACTTTCTGTGCCTCATTTTCTCTCTTCTTCCCATTTCCAAGCAACAAAACCATGTCCATCTACTCTTATTAAAAATCTCCAAGAGTGGTGTCTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGAGGCTGGAAGATTGCTTGAGGCTAAGAGTTCAAGACCAGCCTGGACAACATAAGGAAACCCTTTTTCCGAACAAATAAAAATAAAAATTATTTTTTTTGTAGGTATGGCAGCACGCGCCCATAGTCCCAGTTGCTCAGGAGCCCAGGAGTTCAAGGCTGCAGTGAACCATGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACAACATACCAAG_CHK2 1697 >=10 5 GTGAA 0 - Microhomology-mediated 3869e888-328c-11e6-bd84-429305ad5bc4 1_88173527_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 88173527 AT A 360 PASS - Del - 1 7 MSH6 child 1_88173527_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 38753582-334d-11e6-840b-09aab0dab373 1_246063113_CCA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 1 246063113 C CA 540 PASS SMYD3 Ins intronic 1 3 FANCC child 1_246063113_CCA_FANCC 1 1 - - - - Ins 3879bbf6-3254-11e6-aedc-3df212ae24cf 19_31627763_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 31627763 GA G 360 PASS - Del - 1 8 MSH6 child 19_31627763_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 388a5366-3273-11e6-9e18-3a69671699ea 10_60530095_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 60530095 AT A 540 PASS BICC1 Del intronic 1 6 MSH6 child 10_60530095_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 388ae5c6-3285-11e6-9daa-026ea2c71c31 14_101610011_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 101610011 GT G 540 PASS - Del - 1 6 MSH6 child 14_101610011_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 3897b242-327b-11e6-a05d-037890e2c2e6 12_14564479_TTA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 12 14564479 T TA 420 PASS ATF7IP Ins intronic 1 7 FANCC parent 12_14564479_TTA_FANCC 1 1 - - - - Ins 389e9794-328d-11e6-9c89-8d090e01a414 1_233489076_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 233489076 TA T 540 PASS MLK4 Del intronic 1 5 MSH6 child 1_233489076_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 38ad5bda-3288-11e6-9317-6ba56f39e758 8_88756293_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 88756293 CT C 540 PASS - Del - 1 4 EXO1 child 8_88756293_CTC_EXO1 1 1 1 T 3 T Repeat-mediated 38b34720-328d-11e6-b4fe-93c36f39e758 12_102522735_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 102522735 AT A 660 PASS PARPBP Del intronic 1 9 MSH6 child 12_102522735_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 38b528d2-3275-11e6-83cd-a472a178171f 4_7097030_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 7097030 CA C 660 PASS RP11-367J11.3 Del downstream 1 8 MSH6 child 4_7097030_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 38b68ff2-328d-11e6-919e-92c36f39e758 2_115473169_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 115473169 TA T 720 PASS DPP10 Del intronic 1 9 MSH6 child 2_115473169_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 38c96090-328e-11e6-a83a-f948aa5f95ce 1_177023503_TGT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 1 177023503 TG T 480 PASS ASTN1 Del intronic 1 1 POLM child 1_177023503_TGT_POLM 1 1 0 - 0 G None 38d09a46-3256-11e6-9cd8-27f912ae24cf 7_103185360_GTCTG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 7 103185360 GTCT G 1200 PASS RELN Del intronic 3 1 POLB child 7_103185360_GTCTG_POLB 3 3 1 T 0 - Microhomology-mediated 38d5ea8e-3290-11e6-b805-77090e01a414 2_206138829_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 206138829 T TA 300 PASS PARD3B Ins intronic 1 6 MSH6 child 2_206138829_TTA_MSH6 1 1 - - - - Ins 38d9a35c-327e-11e6-b157-c982996ede67 22_42227640_TTCT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 22 42227640 TTC T 540 PASS SREBF2 Del upstream 2 3 POLM child 22_42227640_TTCT_POLM 2 2 2 TC 2 TC Repeat-mediated 38e23b98-3279-11e6-a391-f6d67d6a9fc7 6_118630361_TGTGTGCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 118630361 TGTGTGC T 360 PASS SLC35F1 Del intronic 6 1 MSH6 child 6_118630361_TGTGTGCT_MSH6 6 6 5 GTGTG 0 - Microhomology-mediated 38e89afe-3285-11e6-90da-f3a469062303 6_68553376_AAGGGAGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 68553376 AAGGGAG A 300 PASS - Del - 6 1 FANCC child 6_68553376_AAGGGAGA_FANCC 6 6 3 AGG 0 - Microhomology-mediated 38ee459a-3289-11e6-a7cf-80090e01a414 15_20453909_GACG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 20453909 GAC G 335 PASS - Del - 2 4 MSH6 child 15_20453909_GACG_MSH6 2 2 2 AC 3 AC Repeat-mediated 38f3ee3a-3272-11e6-b337-78fbd8b4fa2c 2_124265651_CAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 124265651 CA C 480 PASS - Del - 1 8 POLB child 2_124265651_CAC_POLB 1 1 1 A 7 A Repeat-mediated 390131bc-329a-11e6-b723-b29fcc638e3d 19_14060287_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 14060287 GA G 540 PASS PODNL1 Del intronic 1 9 MSH6 child 19_14060287_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 39051cf4-3287-11e6-86fa-e88f1da8ec0e 21_34142537_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 21 34142537 GA G 420 PASS PAXBP1 Del intronic 1 6 EXO1 child 21_34142537_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 39065a7e-3273-11e6-975f-8246cab49462 16_49025265_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 49025265 CT C 660 PASS - Del - 1 9 MSH6 child 16_49025265_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 390a9dda-3270-11e6-8418-1c5942c4520d 3_26053088_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 26053088 CT C 300 PASS - Del - 1 8 MSH6 child 3_26053088_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 39102ba8-328c-11e6-8952-77c36f39e758 10_39076545_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 39076545 GT G 408 PASS - Del - 1 9 MSH6 child 10_39076545_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 391a90ca-3322-11e6-9ab5-b30c2eaed38e 10_132038814_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 10 132038814 AT A 300 PASS - Del - 1 4 EXO1 child 10_132038814_ATA_EXO1 1 1 1 T 3 T Repeat-mediated 3928515e-3289-11e6-bae2-7096cdacbbbf 18_32653371_TTAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 18 32653371 TTA T 480 PASS MAPRE2 Del intronic 2 2 FANCC child 18_32653371_TTAT_FANCC 2 2 2 TA 1 TA Repeat-mediated 393e4092-3291-11e6-b78c-8cb4e7d0bdd7 6_6548499_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 6 6548499 GA G 300 PASS - Del - 1 9 FANCC child 6_6548499_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 393f69ea-3255-11e6-b4d0-327a7872c165 11_115436169_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 115436169 TA T 300 PASS - Del - 1 9 MSH6 child 11_115436169_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3940ada8-328e-11e6-919e-92c36f39e758 2_183896946_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 183896946 TA T 480 PASS NCKAP1 Del intronic 1 9 MSH6 child 2_183896946_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 394178ee-3321-11e6-923f-078b3cfdbd24 18_44016174_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 18 44016174 GA G 360 PASS RNF165 Del intronic 1 7 EXO1 child 18_44016174_GAG_EXO1 1 1 1 A 6 A Repeat-mediated 3942fb96-3287-11e6-b093-c9c7b0dab373 2_229796031_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 229796031 TG T 480 PASS - Del - 1 1 MSH6 child 2_229796031_TGT_MSH6 1 1 0 - 0 G None 39500eb2-3273-11e6-b636-ce0fead19ece 12_115451487_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 12 115451487 AT A 480 PASS - Del - 1 9 NEIL1 child 12_115451487_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 39627314-326d-11e6-b306-b5204b47a305 2_52256513_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 52256513 CT C 420 PASS AC007682.1 Del intronic 1 9 MSH6 child 2_52256513_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3969f5d2-3289-11e6-85b3-df4bcf376b51 15_25872965_AGA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 15 25872965 AG A 780 PASS - Del - 1 4 NUDT1 child 15_25872965_AGA_NUDT1 1 1 1 G 3 G Repeat-mediated 3971a044-3256-11e6-89d3-d29498816cf3 2_34054124_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 34054124 C CA 420 PASS AC009499.1 Ins intronic 1 5 MSH6 child 2_34054124_CCA_MSH6 1 1 - - - - Ins 397d028c-32a0-11e6-aea7-956725c9da85 3_117500038_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 117500038 GT G 370 PASS LSAMP Del intronic 1 8 MSH6 child 3_117500038_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 397f69be-329b-11e6-a5cf-205325c9da85 11_85299732_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 85299732 AT A 540 PASS DLG2 Del intronic 1 9 MSH6 child 11_85299732_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 39818e18-327a-11e6-8c34-46e27872c165 5_169185944_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 169185944 T TA 600 PASS DOCK2 Ins intronic 1 5 MSH6 child 5_169185944_TTA_MSH6 1 1 - - - - Ins 398e481c-3291-11e6-9070-b1a39b6d3b88 6_9880300_TAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 6 9880300 TA T 360 PASS - Del - 1 6 POLB child 6_9880300_TAT_POLB 1 1 1 A 5 A Repeat-mediated 39959a88-3325-11e6-bbbe-ecb20cfb5812 20_18863184_TCTCT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 20 18863184 TCTC T 480 PASS - Del - 3 1 POLE child 20_18863184_TCTCT_POLE 3 3 2 CT 0 - Microhomology-mediated 3999da88-3282-11e6-9b68-79e41da8ec0e 2_140262874_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 140262874 TA T 480 PASS - Del - 1 9 EXO1 child 2_140262874_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 399f1cee-327f-11e6-831c-60fe684da5d2 12_109329364_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 12 109329364 CT C 780 PASS SVOP Del intronic 1 6 NEIL1 child 12_109329364_CTC_NEIL1 1 1 1 T 5 T Repeat-mediated 39a32d58-32a1-11e6-a04f-c66a25c9da85 6_124585810_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 124585810 AC A 480 PASS NKAIN2 Del intronic 1 5 MSH6 child 6_124585810_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 39a3662a-328c-11e6-a653-2591e7d0bdd7 1_187383034_GAATG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 1 187383034 GAAT G 720 PASS - Del - 3 1 POLM child 1_187383034_GAATG_POLM 3 3 0 - 0 - None 39abc966-3285-11e6-baa3-81ed1da8ec0e X_110217118_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 110217118 CA C 540 PASS PAK3 Del intronic 1 8 EXO1 child X_110217118_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 39ac962c-32a1-11e6-b696-dd6225c9da85 5_86085418_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 86085418 T TA 360 PASS - Ins - 1 4 MSH6 child 5_86085418_TTA_MSH6 1 1 - - - - Ins 39afbeca-329b-11e6-a0ea-135325c9da85 15_69798262_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 69798262 GT G 780 PASS RP11-279F6.1 Del intronic 1 9 MSH6 child 15_69798262_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 39bd510c-328c-11e6-a80b-87090e01a414 11_45881321_CCCTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 45881321 C CCTG 480 PASS CRY2 Ins intronic 3 5 MSH6 child 11_45881321_CCCTG_MSH6 3 3 - - - - Ins 39c8d0f8-3292-11e6-a1ea-b9b6e7d0bdd7 11_72301027_TGAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 11 72301027 TGA T 300 PASS PDE2A Del splice_region 2 3 NUDT1 child 11_72301027_TGAT_NUDT1 2 2 2 GA 2 GA Repeat-mediated 39cf3b82-3323-11e6-bda0-2f6519a91649 12_69031702_CCT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 12 69031702 C CT 780 PASS RAP1B Ins intronic 1 7 CHK2 child 12_69031702_CCT_CHK2 1 1 - - - - Ins 39d9cc10-3273-11e6-a721-59c27872c165 5_169557250_GAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 5 169557250 GA G 660 PASS - Del - 1 8 NEIL1 child 5_169557250_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 39da8494-329f-11e6-bc2c-2a5e25c9da85 4_150185284_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 150185284 CA C 660 PASS RP11-24I21.1 Del intronic 1 9 MSH6 child 4_150185284_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 39e5709e-328a-11e6-b74f-549ba2c71c31 20_41313069_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 41313069 GA G 420 PASS PTPRT Del intronic 1 6 MSH6 child 20_41313069_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 39e63d62-3276-11e6-9608-84e46de4ab00 7_26155781_ATATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 26155781 ATAT A 840 PASS - Del - 3 2 EXO1 child 7_26155781_ATATA_EXO1 3 3 3 TAT 1 TAT Repeat-mediated 39ec9e08-3291-11e6-b78c-8cb4e7d0bdd7 6_6921630_GCAAAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 6 6921630 GCAAA G 540 PASS RP3-429O6.1 Del upstream 4 1 FANCC child 6_6921630_GCAAAG_FANCC 4 4 2 CA 0 - Microhomology-mediated 39f5ee06-328f-11e6-8e48-791e0e01a414 8_109562348_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 109562348 CT C 420 PASS - Del - 1 8 MSH6 child 8_109562348_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 39f75a4c-3281-11e6-b652-59be9b6d3b88 1_52360561_TAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 1 52360561 TA T 900 PASS - Del - 1 8 POLE child 1_52360561_TAT_POLE 1 1 1 A 7 A Repeat-mediated 39ff5af8-329f-11e6-aca6-b39fcc638e3d 2_97311361_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 97311361 C CA 540 PASS - Ins - 1 5 MSH6 child 2_97311361_CCA_MSH6 1 1 - - - - Ins 3a03c49a-328f-11e6-bfa2-581f0e01a414 7_151170794_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 151170794 GA G 840 PASS RHEB Del intronic 1 8 MSH6 child 7_151170794_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 3a04b00e-3293-11e6-8d18-13cc0d01a414 20_36456789_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 36456789 C CT 300 PASS CTNNBL1 Ins intronic 1 9 MSH6 child 20_36456789_CCT_MSH6 1 1 - - - - Ins 3a04d69c-329d-11e6-bc2c-2a5e25c9da85 4_22014471_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 22014471 AT A 420 PASS - Del - 1 8 MSH6 child 4_22014471_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3a163a0c-3321-11e6-a8ea-b30f630e6611 13_82551803_CTAAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 13 82551803 CTAA C 540 PASS - Del - 3 2 CHK2 child 13_82551803_CTAAC_CHK2 3 3 3 TAA 1 TAA Repeat-mediated 3a179578-3272-11e6-bbeb-70bd19a91649 20_9381400_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 9381400 CT C 300 PASS PLCB4 Del intronic 1 8 MSH6 child 20_9381400_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3a1b6666-3273-11e6-9e18-3a69671699ea 10_61219591_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 61219591 GT G 600 PASS - Del - 1 7 MSH6 child 10_61219591_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 3a22655a-3292-11e6-919e-92c36f39e758 2_212054798_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 212054798 T TA 300 PASS - Ins - 1 9 MSH6 child 2_212054798_TTA_MSH6 1 1 - - - - Ins 3a289e5a-3271-11e6-9309-bdc34a47a305 8_100770058_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 100770058 AT A 360 PASS VPS13B Del intronic 1 6 MSH6 child 8_100770058_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 3a2cbbf8-329d-11e6-aca6-b39fcc638e3d 2_221448642_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 221448642 AG A 600 PASS AC067956.1 Del intronic 1 5 MSH6 child 2_221448642_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 3a30304c-3277-11e6-998e-ba48fa52e078 8_119788903_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 119788903 TA T 600 PASS - Del - 1 7 MSH6 child 8_119788903_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3a30ee3a-3275-11e6-b776-ad832aaffa45 13_92275878_TTA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 13 92275878 T TA 360 PASS GPC5 Ins intronic 1 4 EXO1 child 13_92275878_TTA_EXO1 1 1 - - - - Ins 3a31394e-3293-11e6-9d24-ade56f39e758 7_143628813_TTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 143628813 T TC 480 PASS OR2F2 Ins upstream 1 2 MSH6 child 7_143628813_TTC_MSH6 1 1 - - - - Ins 3a318c14-3289-11e6-ba61-6079a178171f 2_234643983_CTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 234643983 CT C 360 PASS UGT1A6 Del intronic 1 9 FANCC child 2_234643983_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 3a35f08a-3287-11e6-9170-b6936f39e758 12_111966380_TTA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 111966380 T TA 540 PASS ATXN2 Ins intronic 1 7 EXO1 child 12_111966380_TTA_EXO1 1 1 - - - - Ins 3a37011c-3275-11e6-a279-106e671699ea 3_170648202_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 3 170648202 TA T 660 PASS - Del - 1 7 EXO1 parent 3_170648202_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 3a4ee57e-3271-11e6-9309-bdc34a47a305 8_100899976_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 100899976 AG A 540 PASS COX6C Del intronic 1 4 MSH6 child 8_100899976_AGA_MSH6 1 1 1 G 3 G Repeat-mediated 3a4f000e-3294-11e6-9524-ab4c0d016689 5_82886428_AAAAAAAACTAACA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 5 82886428 AAAAAAAACTAAC A 300 PASS - Del - 12 1 NUDT1 child 5_82886428_AAAAAAAACTAACA_NUDT1 12 >=10 7 AAAAAAA 0 - Microhomology-mediated 3a60568c-3277-11e6-83cd-a472a178171f 4_157381684_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 157381684 TA T 960 PASS - Del - 1 6 MSH6 child 4_157381684_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 3a61c48c-328f-11e6-9230-fb250e01a414 3_84820033_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 84820033 GT G 480 PASS LINC00971 Del intronic 1 5 MSH6 child 3_84820033_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 3a61dae2-3287-11e6-bc08-5710147bb207 3_173136369_CTTC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 3 173136369 CTT C 300 PASS NLGN1 Del intronic 2 3 FANCC child 3_173136369_CTTC_FANCC 2 2 1 T 0 - Microhomology-mediated 3a67e0e0-3291-11e6-9c89-8d090e01a414 1_224413269_CCAA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 224413269 C CAA 420 PASS NVL Ins downstream 2 6 MSH6 child 1_224413269_CCAA_MSH6 2 2 - - - - Ins 3a6c17ac-3285-11e6-8b2d-79a669062303 3_38211981_GTG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 3 38211981 GT G 300 PASS OXSR1 Del intronic 1 9 POLE parent 3_38211981_GTG_POLE 1 1 1 T 8 T Repeat-mediated 3a6e923e-3271-11e6-9309-bdc34a47a305 8_100940822_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 100940822 CA C 360 PASS - Del - 1 8 MSH6 child 8_100940822_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 3a733838-3290-11e6-92cf-bf2a0e01a414 6_91743158_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 91743158 TA T 300 PASS - Del - 1 8 MSH6 child 6_91743158_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3a734ab6-3287-11e6-9766-8c8ca2c71c31 22_18217968_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 18217968 AT A 600 PASS BID Del 3prime_UTR_variant 1 9 MSH6 child 22_18217968_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3a7d0d1e-3294-11e6-b38a-97f8d8b4fa2c 4_2333245_CAC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 4 2333245 CA C 360 PASS ZFYVE28 Del intronic 1 8 NUDT1 child 4_2333245_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 3a7e5e38-3291-11e6-b77d-2eef6f39e758 6_45489452_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 45489452 GT G 540 PASS RUNX2 Del intronic 1 8 MSH6 child 6_45489452_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3a89269c-328c-11e6-927f-cebe38e8a824 7_144886723_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 7 144886723 GT G 540 PASS - Del - 1 4 NUDT1 parent 7_144886723_GTG_NUDT1 1 1 1 T 3 T Repeat-mediated 3a893ea6-32a1-11e6-94ca-0aaecc638e3d X_107367691_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 107367691 C CT 420 PASS ATG4A Ins intronic 1 8 MSH6 child X_107367691_CCT_MSH6 1 1 - - - - Ins 3a8b1fb0-3291-11e6-99d8-a1aee7d0bdd7 8_88114834_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 88114834 CT C 360 PASS CNBD1 Del intronic 1 8 FANCC child 8_88114834_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 3a95ac3e-328a-11e6-a7cf-80090e01a414 15_63229728_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 63229728 GT G 600 PASS - Del - 1 7 MSH6 child 15_63229728_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 3a9c61e0-3254-11e6-89d3-d29498816cf3 2_76078432_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 76078432 TA T 720 PASS - Del - 1 8 MSH6 child 2_76078432_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3a9f642a-329b-11e6-bda6-065325c9da85 13_108165490_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 108165490 AT A 540 PASS FAM155A Del intronic 1 7 MSH6 child 13_108165490_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3aac85d6-3284-11e6-b835-607f2aaffa45 22_46033357_TTCTTTTTTTTTTCT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 22 46033357 TTCTTTTTTTTTTC T 300 PASS - Del - 13 1 POLE child 22_46033357_TTCTTTTTTTTTTCT_POLE 13 >=10 1 T 0 - Microhomology-mediated 3ab97eac-3276-11e6-aefa-bd46694da5d2 7_142415715_AGTTA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 7 142415715 AGTT A 480 PASS - Del - 3 3 CHK2 child 7_142415715_AGTTA_CHK2 3 3 3 GTT 2 GTT Repeat-mediated 3ab99cc2-3288-11e6-8064-0e1e987b3f23 6_159539467_CTGC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 6 159539467 CTG C 300 PASS RP11-13P5.1 Del downstream 2 2 NEIL1 parent 6_159539467_CTGC_NEIL1 2 2 2 TG 1 TG Repeat-mediated 3abbbc3c-3323-11e6-ae98-b2b5fa52e078 2_228248525_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 228248525 GA G 540 PASS TM4SF20 Del upstream 1 4 EXO1 child 2_228248525_GAG_EXO1 1 1 1 A 3 A Repeat-mediated 3ac037e0-32a0-11e6-bc66-17b4cc638e3d 8_91535081_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 91535081 AT A 600 PASS LINC00534 Del intronic 1 8 MSH6 child 8_91535081_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3ac3518e-3258-11e6-885f-d1947872c165 4_148393507_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 148393507 TA T 420 PASS - Del - 1 8 MSH6 child 4_148393507_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3ac493e8-3274-11e6-a5d0-4fd14a47a305 2_162214645_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 162214645 AT A 420 PASS PSMD14 Del intronic 1 7 MSH6 child 2_162214645_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3acb5f88-3284-11e6-becf-9aabf4b7c17d 20_12546643_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 20 12546643 GA G 360 PASS - Del - 1 9 FANCC child 20_12546643_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 3acde7a6-329a-11e6-b129-195325c9da85 16_19747218_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 19747218 TA T 300 PASS IQCK Del intronic 1 8 MSH6 child 16_19747218_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3ace33ae-328c-11e6-bd84-429305ad5bc4 1_88790954_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 88790954 CT C 300 PASS - Del - 1 7 MSH6 child 1_88790954_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 3acee560-3282-11e6-a5e9-0107694da5d2 7_147364903_TAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 147364903 TA T 480 PASS CNTNAP2 Del intronic 1 8 NEIL1 child 7_147364903_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 3ad4bd56-329a-11e6-b129-195325c9da85 16_19749730_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 19749730 AC A 660 PASS IQCK Del intronic 1 8 MSH6 child 16_19749730_ACA_MSH6 1 1 1 C 7 C Repeat-mediated 3ad4c444-3273-11e6-a5d0-4fd14a47a305 2_70975189_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 70975189 GT G 660 PASS ADD2 Del intronic 1 7 MSH6 child 2_70975189_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 3ad66442-3256-11e6-a304-347a7872c165 1_186385148_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 186385148 CT C 480 PASS C1orf27 Del intronic 1 8 MSH6 child 1_186385148_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3ae4841e-329c-11e6-b549-1e5325c9da85 10_4550470_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 4550470 C CA 420 PASS - Ins - 1 9 MSH6 child 10_4550470_CCA_MSH6 1 1 - - - - Ins 3af93f46-3272-11e6-be56-9cdfd7fd0a58 4_41669281_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 4 41669281 AT A 780 PASS LIMCH1 Del intronic 1 9 NUDT1 child 4_41669281_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 3b028e6a-3296-11e6-9985-7c540d016689 6_163809298_CGGCCCCACACCCAGCCCAGAGAGACAAAGGCCAGAGCAAATGGATTCCAGTCCCTGGACCCCAATTTCCAGTGAGGTCAGGGACCCAGGTGGGAAGTGAGCAGCGGGATGAAGTTGCAAGGGTGTCTCTGCTGCGCATCCCACTTTTACCATGATGTCCTGCATGCTTTTCTTCTGGAAGCACCAAAGGTCACTACCCACTCCTCCTGCAGAGAAAGCTGGCACTCACTCAGGTTTTAATCCTTTGGAGGGACAAACATACACATGTAGCAATTTGAGAAGATGCACAAAGCTATGTGTGAGAAGTGCCTGTGAATGCAGTCAGATCACACAGTCACACAAAACACAAAAAGGCTTCACAAAGGAACAGGGCCAGAGGAACTGATGTCCTACAGCAGTGGGCTTCAACCAGTCTTGAAGGGTACAATGGACCTGGATGGACAGTAAGATAAATGGAGACGCATTGCATGTAGGTGGTACCCACATGAACCAGCGCAGAGCAGCTGGATCTAGCTGACACACTGAAGTAACCAAGTACAGAATGGAAGTCCCCCATGATAGGGCCACAAAGAACTCTGCACAATGC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 163809298 CGGCCCCACACCCAGCCCAGAGAGACAAAGGCCAGAGCAAATGGATTCCAGTCCCTGGACCCCAATTTCCAGTGAGGTCAGGGACCCAGGTGGGAAGTGAGCAGCGGGATGAAGTTGCAAGGGTGTCTCTGCTGCGCATCCCACTTTTACCATGATGTCCTGCATGCTTTTCTTCTGGAAGCACCAAAGGTCACTACCCACTCCTCCTGCAGAGAAAGCTGGCACTCACTCAGGTTTTAATCCTTTGGAGGGACAAACATACACATGTAGCAATTTGAGAAGATGCACAAAGCTATGTGTGAGAAGTGCCTGTGAATGCAGTCAGATCACACAGTCACACAAAACACAAAAAGGCTTCACAAAGGAACAGGGCCAGAGGAACTGATGTCCTACAGCAGTGGGCTTCAACCAGTCTTGAAGGGTACAATGGACCTGGATGGACAGTAAGATAAATGGAGACGCATTGCATGTAGGTGGTACCCACATGAACCAGCGCAGAGCAGCTGGATCTAGCTGACACACTGAAGTAACCAAGTACAGAATGGAAGTCCCCCATGATAGGGCCACAAAGAACTCTGCACAATG C 360 PASS - Del - 584 1 NUDT1 child 6_163809298_CGGCCCCACACCCAGCCCAGAGAGACAAAGGCCAGAGCAAATGGATTCCAGTCCCTGGACCCCAATTTCCAGTGAGGTCAGGGACCCAGGTGGGAAGTGAGCAGCGGGATGAAGTTGCAAGGGTGTCTCTGCTGCGCATCCCACTTTTACCATGATGTCCTGCATGCTTTTCTTCTGGAAGCACCAAAGGTCACTACCCACTCCTCCTGCAGAGAAAGCTGGCACTCACTCAGGTTTTAATCCTTTGGAGGGACAAACATACACATGTAGCAATTTGAGAAGATGCACAAAGCTATGTGTGAGAAGTGCCTGTGAATGCAGTCAGATCACACAGTCACACAAAACACAAAAAGGCTTCACAAAGGAACAGGGCCAGAGGAACTGATGTCCTACAGCAGTGGGCTTCAACCAGTCTTGAAGGGTACAATGGACCTGGATGGACAGTAAGATAAATGGAGACGCATTGCATGTAGGTGGTACCCACATGAACCAGCGCAGAGCAGCTGGATCTAGCTGACACACTGAAGTAACCAAGTACAGAATGGAAGTCCCCCATGATAGGGCCACAAAGAACTCTGCACAATGC_NUDT1 584 >=10 3 GGC 0 - Microhomology-mediated 3b03fe30-328c-11e6-84c5-62cc977b3f23 13_74584852_CAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 13 74584852 CA C 600 PASS KLF12 Del intronic 1 7 NEIL1 child 13_74584852_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated 3b216824-3275-11e6-998e-ba48fa52e078 8_14277712_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 14277712 AT A 480 PASS SGCZ Del intronic 1 6 MSH6 child 8_14277712_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 3b21d072-3291-11e6-b81f-4ee66f39e758 8_103532478_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 103532478 TA T 300 PASS - Del - 1 9 MSH6 child 8_103532478_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3b23c2ec-328c-11e6-919e-92c36f39e758 2_47446257_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 47446257 TA T 540 PASS AC073283.4 Del intronic 1 9 MSH6 child 2_47446257_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3b37a750-332a-11e6-95a6-476ac042253c 3_117700886_AAAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 117700886 A AAT 360 PASS LSAMP Ins intronic 2 6 CHK2 child 3_117700886_AAAT_CHK2 2 2 - - - - Ins 3b3e2302-328d-11e6-8566-7f5c694da5d2 11_61402665_TGCTGAAAGCCTCCAGAGAGTCACATATCTAAAT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 11 61402665 TGCTGAAAGCCTCCAGAGAGTCACATATCTAAA T 660 PASS - Del - 32 1 POLM child 11_61402665_TGCTGAAAGCCTCCAGAGAGTCACATATCTAAAT_POLM 32 >=10 1 G 0 - Microhomology-mediated 3b4f60de-3285-11e6-be43-0a6ea2c71c31 10_73006287_CCAAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 73006287 CCAA C 720 PASS UNC5B Del intronic 3 2 MSH6 child 10_73006287_CCAAC_MSH6 3 3 3 CAA 1 CAA Repeat-mediated 3b63905e-328a-11e6-8eee-76090e01a414 10_66049586_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 66049586 GT G 360 PASS - Del - 1 8 MSH6 child 10_66049586_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3b67fae0-3299-11e6-ad17-c026c7271a47 9_114397150_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 9 114397150 CA C 780 PASS DNAJC25 Del intronic 1 9 CHK2 child 9_114397150_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 3b757eac-329b-11e6-8d0f-075325c9da85 14_97177665_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 97177665 AT A 360 PASS - Del - 1 9 MSH6 child 14_97177665_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3b79d824-328e-11e6-b9c4-751d0e01a414 5_133812907_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 133812907 GT G 480 PASS AC005355.1 Del intronic 1 7 MSH6 child 5_133812907_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 3b7a96e2-3289-11e6-a8ac-a28ea2c71c31 3_161347282_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 161347282 GT G 600 PASS - Del - 1 8 MSH6 child 3_161347282_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3b7bac54-3274-11e6-a2a4-305390e2c2e6 3_96895707_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 96895707 AT A 300 PASS EPHA6 Del intronic 1 9 POLB child 3_96895707_ATA_POLB 1 1 1 T 8 T Repeat-mediated 3b8a41d8-3283-11e6-aa1d-e9782aaffa45 4_25358993_CTTGC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 4 25358993 CTTG C 1020 PASS ZCCHC4 Del intronic 3 2 POLE child 4_25358993_CTTGC_POLE 3 3 3 TTG 1 TTG Repeat-mediated 3b8a798e-3277-11e6-a71d-236235cec73b X_96491527_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 96491527 CT C 300 PASS DIAPH2 Del intronic 1 9 MSH6 child X_96491527_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3b92e02a-3276-11e6-9bb2-e658c225ee11 20_12600159_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 20 12600159 TA T 480 PASS - Del - 1 7 EXO1 parent 20_12600159_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 3b99e38a-3270-11e6-8418-1c5942c4520d 3_27244766_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 27244766 GA G 300 PASS NEK10 Del intronic 1 7 MSH6 child 3_27244766_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 3ba73bdc-326d-11e6-9003-ae204b47a305 19_32265841_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 32265841 GA G 660 PASS - Del - 1 6 MSH6 child 19_32265841_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 3bb1b624-3287-11e6-b093-c9c7b0dab373 2_230741775_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 230741775 TA T 540 PASS TRIP12 Del intronic 1 8 MSH6 child 2_230741775_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3bb39cf8-328e-11e6-bec1-ca1d0e01a414 X_78038933_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 78038933 GT G 300 PASS - Del - 1 3 MSH6 child X_78038933_GTG_MSH6 1 1 1 T 2 T Repeat-mediated 3bbd49ba-3289-11e6-b9eb-c78fa2c71c31 6_139535309_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 139535309 CA C 552 PASS - Del - 1 7 MSH6 child 6_139535309_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 3bbedfa8-329a-11e6-b129-195325c9da85 16_20009129_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 20009129 TA T 1260 PASS - Del - 1 8 MSH6 child 16_20009129_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3bbf0690-329f-11e6-94ca-0aaecc638e3d X_105139187_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 105139187 CT C 360 PASS NRK Del intronic 1 8 MSH6 child X_105139187_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3bbf0e4c-3286-11e6-8b67-086ea2c71c31 1_162142487_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 162142487 GT G 540 PASS NOS1AP Del intronic 1 8 MSH6 child 1_162142487_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3bc3f4e8-326d-11e6-b9f4-5d1d694da5d2 14_62450234_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 62450234 GT G 300 PASS SYT16 Del upstream 1 8 MSH6 child 14_62450234_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3bc7ed6e-3259-11e6-a39a-dc8512ae24cf 8_101113419_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 101113419 TA T 720 PASS RGS22 Del intronic 1 7 MSH6 child 8_101113419_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3bdf8d8e-3290-11e6-b9c4-751d0e01a414 5_90643650_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 90643650 C CA 660 PASS - Ins - 1 1 MSH6 child 5_90643650_CCA_MSH6 1 1 - - - - Ins 3be4257c-3288-11e6-bb85-03a66f39e758 4_140310006_CTGC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 140310006 CTG C 300 PASS NAA15 Del 3prime_UTR_variant 2 1 EXO1 child 4_140310006_CTGC_EXO1 2 2 1 T 0 - Microhomology-mediated 3be4b954-328a-11e6-8859-46b47098ee92 12_98174635_CTTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 12 98174635 CTT C 420 PASS - Del - 2 4 NUDT1 child 12_98174635_CTTC_NUDT1 2 2 2 TT 2 T Repeat-mediated 3be7cf12-329f-11e6-94ca-0aaecc638e3d X_105224373_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 105224373 CT C 480 PASS - Del - 1 9 MSH6 child X_105224373_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3be972e0-328b-11e6-a80b-87090e01a414 11_121599531_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 121599531 TA T 540 PASS - Del - 1 8 MSH6 child 11_121599531_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3beb79a2-3347-11e6-840b-09aab0dab373 1_118401247_TAAGCCAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 1 118401247 TAAGCCA T 420 PASS GDAP2 Del downstream 6 1 FANCC child 1_118401247_TAAGCCAT_FANCC 6 6 4 AAGC 0 - Microhomology-mediated 3bef32c2-3289-11e6-bbaf-7c090e01a414 19_1154001_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 1154001 TG T 360 PASS SBNO2 Del intronic 1 4 MSH6 child 19_1154001_TGT_MSH6 1 1 1 G 3 G Repeat-mediated 3bf390c4-3289-11e6-b9eb-c78fa2c71c31 6_139640735_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 139640735 CA C 600 PASS - Del - 1 9 MSH6 child 6_139640735_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 3c03f0e2-3278-11e6-b068-16d27d6a9fc7 6_131324604_CCAATC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 6 131324604 CCAAT C 540 PASS EPB41L2 Del intronic 4 1 NEIL1 child 6_131324604_CCAATC_NEIL1 4 4 2 CA 0 - Microhomology-mediated 3c065e7c-3273-11e6-aa3b-ca60a178171f 13_74859045_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 74859045 GT G 660 PASS - Del - 1 8 MSH6 child 13_74859045_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3c2fb604-3288-11e6-8404-8e1fbce6aa09 8_102362482_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 102362482 TA T 660 PASS - Del - 1 8 MSH6 child 8_102362482_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3c3b3d52-328e-11e6-9230-fb250e01a414 3_22953189_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 22953189 CA C 420 PASS - Del - 1 6 MSH6 child 3_22953189_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 3c3cb498-3275-11e6-998e-ba48fa52e078 8_14603416_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 14603416 AT A 600 PASS SGCZ Del intronic 1 9 MSH6 child 8_14603416_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3c3dad10-3286-11e6-a8ad-04770d016689 9_128244969_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 128244969 GA G 300 PASS MAPKAP1 Del intronic 1 6 EXO1 child 9_128244969_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 3c46e1be-3254-11e6-bf41-357a7872c165 10_50075956_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 50075956 TA T 540 PASS WDFY4 Del intronic 1 7 MSH6 child 10_50075956_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3c54d062-328b-11e6-938d-bbbd38e8a824 5_120809995_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 5 120809995 GA G 480 PASS - Del - 1 3 NUDT1 parent 5_120809995_GAG_NUDT1 1 1 1 A 2 A Repeat-mediated 3c54d5c6-3272-11e6-b80c-52782aaffa45 21_23739826_GAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 21 23739826 GA G 300 PASS AP000705.7 Del intronic 1 1 NEIL1 child 21_23739826_GAG_NEIL1 1 1 0 - 0 A None 3c58adda-3273-11e6-b332-88ba7d6a9fc7 15_62375726_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 62375726 GA G 480 PASS - Del - 1 7 MSH6 child 15_62375726_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 3c5b5ca4-3275-11e6-94a5-6c01ebb8d062 8_14461273_CCA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 8 14461273 C CA 300 PASS SGCZ Ins intronic 1 5 NUDT1 child 8_14461273_CCA_NUDT1 1 1 - - - - Ins 3c67adf6-328e-11e6-919e-92c36f39e758 2_184675695_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 184675695 AT A 660 PASS - Del - 1 9 MSH6 child 2_184675695_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3c6eba9e-325a-11e6-8340-da9012ae24cf 6_120865425_CCTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 120865425 CCT C 540 PASS - Del - 2 4 MSH6 child 6_120865425_CCTC_MSH6 2 2 2 CT 3 CT Repeat-mediated 3c72089e-3272-11e6-abaf-4642cab49462 6_41719659_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 41719659 CT C 600 PASS PGC Del upstream 1 9 MSH6 child 6_41719659_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3c72bc80-3286-11e6-b093-c9c7b0dab373 2_151040208_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 151040208 AT A 660 PASS AC016682.1 Del intronic 1 5 MSH6 child 2_151040208_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 3c743b96-328b-11e6-a7cf-80090e01a414 15_79979853_ATTGGTCACCATAAAAAGTATGTTGCCCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 79979853 ATTGGTCACCATAAAAAGTATGTTGCCC A 480 PASS - Del - 27 1 MSH6 child 15_79979853_ATTGGTCACCATAAAAAGTATGTTGCCCA_MSH6 27 >=10 4 TTGG 0 - Microhomology-mediated 3c8a4184-3272-11e6-bbeb-70bd19a91649 20_10871581_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 10871581 CT C 300 PASS RP4-697P8.3 Del intronic 1 9 MSH6 child 20_10871581_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3c8ca19e-3322-11e6-bda0-2f6519a91649 12_100133250_AGCTTTGACCTCC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 12 100133250 AGCTTTG ACCTCC 300 PASS ANKS1B Complex intronic 6 0 CHK2 child 12_100133250_AGCTTTGACCTCC_CHK2 1 1 - - - - Complex 3c901b02-326f-11e6-acc7-e55219a91649 1_231503935_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 231503935 TA T 540 PASS EGLN1 Del intronic 1 9 MSH6 child 1_231503935_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3c982dc2-3276-11e6-8c34-46e27872c165 5_57183235_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 57183235 CT C 660 PASS RP11-478P10.1 Del downstream 1 7 MSH6 child 5_57183235_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 3c9b0120-326f-11e6-bfba-13bf4a47a305 9_86271876_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 86271876 TA T 480 PASS UBQLN1 Del downstream 1 9 MSH6 child 9_86271876_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3ca94eec-326f-11e6-b5b8-e0c24a47a305 X_18778458_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 18778458 AT A 420 PASS PPEF1 Del intronic 1 8 MSH6 child X_18778458_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3caa0cf2-3291-11e6-835c-61b3e7d0bdd7 21_31624862_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 21 31624862 CT C 420 PASS - Del - 1 9 FANCC child 21_31624862_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 3cab3422-3293-11e6-a645-5148a178171f 14_70302131_GTG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 14 70302131 GT G 360 PASS - Del - 1 8 NEIL1 child 14_70302131_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated 3cac9b28-3284-11e6-93a7-4e498e4678dd 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 22 41558882 TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGG TTAAAAATAGATAATTAT 360 PASS EP300 Complex ess_splice 1593 0 FANCC child 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT_FANCC 1576 >=10 - - - - Complex 3cad11b0-3280-11e6-8cd8-82e7b41afd22 7_134378301_CAAC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 7 134378301 CAA C 480 PASS - Del - 2 3 POLM child 7_134378301_CAAC_POLM 2 2 1 A 0 - Microhomology-mediated 3caf4eda-3276-11e6-b89c-b448aea0a4d2 2_140733640_GATG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 2 140733640 GAT G 300 PASS - Del - 2 5 POLM child 2_140733640_GATG_POLM 2 2 2 AT 4 AT Repeat-mediated 3cb83146-3274-11e6-9e18-3a69671699ea 10_123632025_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 123632025 AT A 540 PASS ATE1 Del intronic 1 9 MSH6 child 10_123632025_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3cc2b1d2-3258-11e6-9d15-298312ae24cf X_113902517_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 113902517 CA C 420 PASS HTR2C Del intronic 1 7 MSH6 child X_113902517_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 3cc30b5a-3276-11e6-a26e-5d0c25864c47 3_94149923_ACA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 3 94149923 AC A 480 PASS - Del - 1 4 CHK2 child 3_94149923_ACA_CHK2 1 1 1 C 3 C Repeat-mediated 3cc409e6-3286-11e6-a673-6279a178171f 19_21360002_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 19 21360002 AT A 300 PASS ZNF431 Del intronic 1 6 FANCC child 19_21360002_ATA_FANCC 1 1 1 T 5 T Repeat-mediated 3cce584a-3256-11e6-a304-347a7872c165 1_187037306_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 187037306 CT C 540 PASS - Del - 1 8 MSH6 child 1_187037306_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3cd26ef0-328b-11e6-a70a-47793adbad45 3_158786511_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 158786511 AT A 720 PASS IQCJ-SCHIP1 Del upstream 1 9 NUDT1 parent 3_158786511_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 3cd41f08-328a-11e6-aff5-85090e01a414 16_52941679_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 52941679 CT C 360 PASS - Del - 1 9 MSH6 child 16_52941679_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3cd50772-3255-11e6-bf41-357a7872c165 10_116340454_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 116340454 AT A 420 PASS ABLIM1 Del intronic 1 9 MSH6 child 10_116340454_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3cdde45c-329e-11e6-8c2e-3f6625c9da85 22_21286731_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 21286731 CT C 420 PASS CRKL Del intronic 1 8 MSH6 child 22_21286731_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3cde47ec-3273-11e6-be0b-bed2cde16804 14_88095995_GGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 14 88095995 G GT 480 PASS CTD-2007A10.1 Ins downstream 1 6 MSH6 parent 14_88095995_GGT_MSH6 1 1 - - - - Ins 3ce173f2-3284-11e6-83b0-2c6e0d016689 2_54804191_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 54804191 GT G 720 PASS SPTBN1 Del intronic 1 8 EXO1 child 2_54804191_GTG_EXO1 1 1 1 T 7 T Repeat-mediated 3ce564e0-3274-11e6-90a5-ccdb6de4ab00 2_68981008_GTG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 2 68981008 GT G 360 PASS ARHGAP25 Del intronic 1 5 CHK2 child 2_68981008_GTG_CHK2 1 1 1 T 4 T Repeat-mediated 3cee09ce-328d-11e6-9c89-8d090e01a414 1_234611772_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 234611772 TA T 480 PASS TARBP1 Del intronic 1 8 MSH6 child 1_234611772_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3cef9f92-3273-11e6-8f33-a6d9cde16804 11_75805536_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 75805536 CT C 730 PASS UVRAG Del intronic 1 7 MSH6 child 11_75805536_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 3cf0b960-3271-11e6-b439-e34b3cfdbd24 2_13636149_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 13636149 TA T 720 PASS - Del - 1 8 MSH6 parent 2_13636149_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3cf1a6c6-3272-11e6-bbeb-70bd19a91649 20_11046552_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 11046552 CT C 540 PASS - Del - 1 8 MSH6 child 20_11046552_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3cf38030-3278-11e6-92d2-c259c225ee11 3_138886584_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 138886584 CT C 505 PASS MRPS22 Del intronic 1 8 MSH6 child 3_138886584_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3cf880ca-328d-11e6-9f18-f1d1996ede67 3_140771732_TCTGAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 3 140771732 TCTGA T 300 PASS SPSB4 Del intronic 4 1 CHK2 child 3_140771732_TCTGAT_CHK2 4 4 3 CTG 0 - Microhomology-mediated 3cf9d00a-329d-11e6-bc2c-2a5e25c9da85 4_22922141_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 22922141 CT C 543 PASS - Del - 1 9 MSH6 child 4_22922141_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3cfa2ffe-328f-11e6-88c8-e0035e753391 19_21177193_AAG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 19 21177193 A AG 600 PASS - Ins - 1 0 POLB child 19_21177193_AAG_POLB 1 1 - - - - Ins 3cfaea5a-3273-11e6-83ef-69fb06e9a829 18_59982061_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 59982061 TA T 600 PASS - Del - 1 2 MSH6 child 18_59982061_TAT_MSH6 1 1 1 A 1 A Repeat-mediated 3d00e3ca-329f-11e6-b696-dd6225c9da85 5_139703526_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 139703526 CA C 300 PASS - Del - 1 8 MSH6 child 5_139703526_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 3d050db8-328d-11e6-b9c4-751d0e01a414 5_62236928_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 62236928 GT G 600 PASS - Del - 1 8 MSH6 child 5_62236928_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 3d0afe02-3275-11e6-bf33-43b638e8a824 4_55474756_CCT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 4 55474756 C CT 360 PASS AC006552.1 Ins upstream 1 6 NEIL1 child 4_55474756_CCT_NEIL1 1 1 - - - - Ins 3d10af6c-3321-11e6-9963-fc8c38e8a824 11_91990231_TAT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 11 91990231 TA T 420 PASS - Del - 1 9 POLE child 11_91990231_TAT_POLE 1 1 1 A 8 A Repeat-mediated 3d1473ec-3289-11e6-a100-84090e01a414 18_880071_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 880071 AT A 480 PASS - Del - 1 7 MSH6 child 18_880071_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3d1ad2cc-328f-11e6-8e48-791e0e01a414 8_110900841_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 110900841 CT C 660 PASS - Del - 1 9 MSH6 child 8_110900841_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3d1af85a-329a-11e6-ae71-0c5325c9da85 1_19852001_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 19852001 AT A 420 PASS - Del - 1 8 MSH6 child 1_19852001_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3d1baae6-3279-11e6-9484-e5b5cc638e3d 6_104883954_CTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 6 104883954 CT C 360 PASS - Del - 1 7 EXO1 child 6_104883954_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 3d1cf566-329e-11e6-91d0-016425c9da85 7_48356727_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 48356727 CT C 840 PASS ABCA13 Del intronic 1 9 MSH6 child 7_48356727_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3d228660-326d-11e6-bc62-6d4742c4520d 16_47442534_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 47442534 CA C 300 PASS ITFG1 Del intronic 1 9 MSH6 child 16_47442534_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 3d23068a-328b-11e6-9c89-8d090e01a414 1_112195908_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 112195908 GT G 420 PASS RAP1A Del intronic 1 9 MSH6 child 1_112195908_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 3d291c20-3275-11e6-acf7-070eebb8d062 6_114811229_GTTTTTAAACTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 6 114811229 GTTTTTAAACT G 600 PASS RP3-399L15.1 Del upstream 10 1 NUDT1 child 6_114811229_GTTTTTAAACTG_NUDT1 10 >=10 4 TTTT 0 - Microhomology-mediated 3d2a5586-329d-11e6-b696-dd6225c9da85 5_12243817_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 12243817 TG T 600 PASS - Del - 1 5 MSH6 child 5_12243817_TGT_MSH6 1 1 1 G 4 G Repeat-mediated 3d305882-328e-11e6-919e-92c36f39e758 2_184975257_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 184975257 TA T 300 PASS - Del - 1 9 MSH6 child 2_184975257_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3d38b508-3276-11e6-a924-afbd7d6a9fc7 2_231026678_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 231026678 AT A 300 PASS - Del - 1 6 EXO1 child 2_231026678_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 3d3c5254-3289-11e6-9f78-a18aa178171f 7_34389683_GTG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 7 34389683 GT G 1020 PASS - Del - 1 5 FANCC child 7_34389683_GTG_FANCC 1 1 1 T 4 T Repeat-mediated 3d3cde64-3297-11e6-8876-266aa178171f 3_48829819_TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGACTGGCCCACTAAAGGTTTAATCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCGGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 3 48829819 TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGACTGGCCCACTAAAGGTTTAATCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCGGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCC T 300 PASS PRKAR2A Del intronic 321 1 NEIL1 child 3_48829819_TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGACTGGCCCACTAAAGGTTTAATCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCGGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCT_NEIL1 321 >=10 32 GCCTCGGCCTCCCAAAGTGCTGGGATTACAGG 0 - Microhomology-mediated 3d59fdee-328f-11e6-8954-6972fc77b11e 4_44864953_GTTCG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 4 44864953 GTTC G 480 PASS - Del - 3 3 POLE child 4_44864953_GTTCG_POLE 3 3 3 TTC 2 TTC Repeat-mediated 3d5da538-3277-11e6-92d2-c259c225ee11 3_63454568_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 63454568 AT A 720 PASS SYNPR Del intronic 1 9 MSH6 child 3_63454568_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3d6797f0-326d-11e6-9fba-41ebd8b4fa2c 11_25584473_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 25584473 CT C 420 PASS - Del - 1 9 MSH6 child 11_25584473_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3d6ab896-328f-11e6-8952-77c36f39e758 10_121659747_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 121659747 A AT 1140 PASS SEC23IP Ins intronic 1 5 MSH6 child 10_121659747_AAT_MSH6 1 1 - - - - Ins 3d7128c8-3287-11e6-b093-c9c7b0dab373 2_231335078_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 231335078 CT C 300 PASS SP100 Del 3prime_UTR_variant 1 8 MSH6 child 2_231335078_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3d7b6338-329b-11e6-bbf7-b00798ba1142 3_127788703_CTGC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 3 127788703 CTG C 780 PASS SEC61A1 Del 3prime_UTR_variant 2 2 CHK2 child 3_127788703_CTGC_CHK2 2 2 2 TG 1 TG Repeat-mediated 3d7cf2a4-3294-11e6-b574-0154e7d0bdd7 20_48545818_AGGGATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 20 48545818 AGGGAT A 360 PASS - Del - 5 2 FANCC child 20_48545818_AGGGATA_FANCC 5 5 5 GGGAT 1 GGGAT Repeat-mediated 3d80adbe-328e-11e6-b9c4-751d0e01a414 5_134176805_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 134176805 AT A 480 PASS C5orf24 Del upstream 1 6 MSH6 child 5_134176805_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 3d8547b6-328e-11e6-9777-62d8191589db 5_167677745_GTCCG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 167677745 GTCC G 360 PASS TENM2 Del intronic 3 3 FANCC child 5_167677745_GTCCG_FANCC 3 3 3 TCC 2 TCC Repeat-mediated 3d8b135c-328a-11e6-af7e-81c435cec73b 4_63196901_TTA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 4 63196901 T TA 600 PASS - Ins - 1 3 POLE child 4_63196901_TTA_POLE 1 1 - - - - Ins 3d90ac14-328e-11e6-8f31-bfe16f39e758 9_23734820_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 23734820 CA C 420 PASS ELAVL2 Del intronic 1 9 MSH6 child 9_23734820_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 3d9248b8-3256-11e6-a304-347a7872c165 1_187337152_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 187337152 CT C 420 PASS - Del - 1 9 MSH6 child 1_187337152_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3d93fd10-3289-11e6-997d-e46e3adbad45 12_87257812_GGCCTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 12 87257812 G GCCTC 540 PASS - Ins - 4 0 NUDT1 parent 12_87257812_GGCCTC_NUDT1 4 4 - - - - Ins 3d960b72-328f-11e6-a1a1-958e3adbad45 11_86687467_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 11 86687467 TA T 360 PASS RP11-736K20.6 Del intronic 1 6 NEIL1 child 11_86687467_TAT_NEIL1 1 1 1 A 5 A Repeat-mediated 3d9cecf4-328e-11e6-8f31-bfe16f39e758 9_23764604_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 23764604 CT C 600 PASS ELAVL2 Del intronic 1 9 MSH6 child 9_23764604_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3d9fa63c-328a-11e6-94b1-74090e01a414 17_47064668_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 47064668 CT C 360 PASS - Del - 1 9 MSH6 child 17_47064668_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3da21a70-328f-11e6-b6a6-1f1e0e01a414 4_173339358_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 173339358 CT C 300 PASS GALNTL6 Del intronic 1 8 MSH6 child 4_173339358_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3dabfaa0-3289-11e6-ad64-7189a178171f 5_50430852_ACTTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 50430852 ACTT A 300 PASS - Del - 3 2 FANCC child 5_50430852_ACTTA_FANCC 3 3 3 CTT 1 CTT Repeat-mediated 3dad21c8-327f-11e6-ba36-88d64dc77248 7_57625971_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 7 57625971 AT A 720 PASS - Del - 1 7 NUDT1 child 7_57625971_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated 3db033b2-328a-11e6-bf15-aeb06f39e758 6_152187471_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 152187471 CT C 360 PASS ESR1 Del intronic 1 9 EXO1 child 6_152187471_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 3db03604-327c-11e6-8723-889be7d0bdd7 2_16273064_GAG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 16273064 GA G 480 PASS - Del - 1 7 NUDT1 child 2_16273064_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 3db19404-3277-11e6-92d2-c259c225ee11 3_63713924_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 63713924 AT A 360 PASS - Del - 1 9 MSH6 child 3_63713924_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3db3ae26-328e-11e6-bec1-ca1d0e01a414 X_78808680_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 78808680 AT A 780 PASS - Del - 1 7 MSH6 child X_78808680_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 3dc507be-3281-11e6-924c-3208694da5d2 5_41964410_ATA . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 5 41964410 AT A 480 PASS - Del - 1 9 NEIL1 child 5_41964410_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 3dc84b28-3258-11e6-971b-98a02aaffa45 5_140224614_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 5 140224614 AT A 540 PASS PCDHA9 Del upstream 1 4 POLM child 5_140224614_ATA_POLM 1 1 1 T 3 T Repeat-mediated 3dd6c3fa-326d-11e6-acc7-e55219a91649 1_68545485_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 68545485 CT C 600 PASS - Del - 1 9 MSH6 child 1_68545485_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3dd7db74-329e-11e6-8c2e-3f6625c9da85 22_21429401_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 21429401 TA T 900 PASS - Del - 1 9 MSH6 child 22_21429401_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3dd93d10-329a-11e6-8d0f-075325c9da85 14_41846511_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 41846511 TA T 540 PASS - Del - 1 7 MSH6 child 14_41846511_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3ddd3762-3254-11e6-a03d-40f212ae24cf 18_48692078_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 48692078 TA T 300 PASS - Del - 1 8 MSH6 child 18_48692078_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3de96d08-3276-11e6-8e2a-7f03630e6611 X_83190406_TTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA X 83190406 T TC 300 PASS - Ins - 1 1 FANCC child X_83190406_TTC_FANCC 1 1 - - - - Ins 3dea62d2-3274-11e6-83ef-69fb06e9a829 18_50209493_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 50209493 G GA 420 PASS DCC Ins intronic 1 6 MSH6 child 18_50209493_GGA_MSH6 1 1 - - - - Ins 3df648d8-329a-11e6-8d0f-075325c9da85 14_41915977_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 41915977 AT A 540 PASS - Del - 1 6 MSH6 child 14_41915977_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 3dfc5874-329d-11e6-ae71-0c5325c9da85 1_198673581_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 198673581 AT A 600 PASS PTPRC Del intronic 1 8 MSH6 child 1_198673581_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3dfcf35a-328f-11e6-9c89-8d090e01a414 1_87473645_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 87473645 A AT 300 PASS HS2ST1 Ins intronic 1 6 MSH6 child 1_87473645_AAT_MSH6 1 1 - - - - Ins 3e077a30-328c-11e6-8770-3e160e01a414 9_37626325_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 37626325 GA G 360 PASS - Del - 1 7 MSH6 child 9_37626325_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 3e158c42-3287-11e6-a284-4b89a2c71c31 4_62365877_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 62365877 TA T 600 PASS LPHN3 Del intronic 1 7 MSH6 child 4_62365877_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3e35f67c-3290-11e6-903e-aa6919a91649 16_47506961_TTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 16 47506961 T TG 360 PASS PHKB Ins intronic 1 1 NEIL1 child 16_47506961_TTG_NEIL1 1 1 - - - - Ins 3e3ef98c-3328-11e6-868e-d16670cce0de 6_90331677_AAGA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 90331677 AAG A 1140 PASS ANKRD6 Del frameshift 2 5 EXO1 child 6_90331677_AAGA_EXO1 2 2 2 AG 4 AG Repeat-mediated 3e4f4b3a-3273-11e6-a5d0-4fd14a47a305 2_72279666_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 72279666 CA C 360 PASS - Del - 1 7 MSH6 child 2_72279666_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 3e55d944-3324-11e6-9c20-925172d7bc54 3_54877911_GGAAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 3 54877911 GGAA G 840 PASS CACNA2D3 Del intronic 3 3 EXO1 child 3_54877911_GGAAG_EXO1 3 3 3 GAA 2 GAA Repeat-mediated 3e567170-3288-11e6-a284-4b89a2c71c31 4_157592355_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 157592355 AT A 780 PASS - Del - 1 6 MSH6 child 4_157592355_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 3e5b134a-3276-11e6-b89c-b448aea0a4d2 2_141315904_CAC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 2 141315904 CA C 420 PASS LRP1B Del intronic 1 5 POLM child 2_141315904_CAC_POLM 1 1 1 A 4 A Repeat-mediated 3e5b223a-329a-11e6-bda6-065325c9da85 13_42122692_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 42122692 GA G 480 PASS - Del - 1 7 MSH6 child 13_42122692_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 3e5c71fc-328c-11e6-b90a-464ed5dcf142 5_123548369_GAG . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 5 123548369 GA G 660 PASS - Del - 1 8 NUDT1 child 5_123548369_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated 3e6150f0-3322-11e6-8b61-fad5c042253c 12_128865208_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 12 128865208 AT A 540 PASS TMEM132C Del intronic 1 4 CHK2 child 12_128865208_ATA_CHK2 1 1 1 T 3 T Repeat-mediated 3e622174-328c-11e6-bd84-429305ad5bc4 1_90748651_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 90748651 TA T 420 PASS - Del - 1 9 MSH6 child 1_90748651_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 3e66de3a-3255-11e6-89d3-d29498816cf3 2_186772173_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 186772173 CT C 420 PASS - Del - 1 9 MSH6 child 2_186772173_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3e6976d4-3275-11e6-a924-afbd7d6a9fc7 2_166735896_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 166735896 TA T 300 PASS TTC21B Del intronic 1 5 EXO1 child 2_166735896_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 3e78c3f0-328e-11e6-b9c4-751d0e01a414 5_134539506_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 134539506 CT C 540 PASS C5orf66 Del intronic 1 8 MSH6 child 5_134539506_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3e7b54be-329b-11e6-b129-195325c9da85 16_64565242_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 64565242 GA G 960 PASS RP11-467L24.1 Del intronic 1 9 MSH6 child 16_64565242_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 3e7ebdfa-3275-11e6-88b6-40832aaffa45 1_157810823_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 157810823 TA T 540 PASS CD5L Del intronic 1 9 EXO1 child 1_157810823_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 3e8ca79c-326d-11e6-9f48-94df41c4520d 12_52588158_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 52588158 CA C 600 PASS KRT80 Del upstream 1 6 MSH6 child 12_52588158_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 3e8f07ea-3285-11e6-a8ad-04770d016689 9_5443118_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 5443118 AT A 420 PASS - Del - 1 8 EXO1 child 9_5443118_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 3e93e3c2-3254-11e6-89d3-d29498816cf3 2_77731333_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 77731333 AT A 600 PASS LRRTM4 Del intronic 1 8 MSH6 child 2_77731333_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3e97c542-328a-11e6-821d-8c090e01a414 13_77570909_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 77570909 AT A 300 PASS CLN5 Del intronic 1 6 MSH6 child 13_77570909_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 3e99496c-3285-11e6-97d5-6cf1bbe6aa09 17_65463475_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 65463475 CT C 540 PASS PITPNC1 Del intronic 1 9 MSH6 child 17_65463475_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3eb07c5c-3255-11e6-a349-7f23ee3c4f5d 3_18655663_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 3 18655663 TA T 600 PASS - Del - 1 9 POLB child 3_18655663_TAT_POLB 1 1 1 A 8 A Repeat-mediated 3eb60ed8-3287-11e6-ba61-6079a178171f 2_104099122_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 104099122 AT A 480 PASS - Del - 1 6 FANCC child 2_104099122_ATA_FANCC 1 1 1 T 5 T Repeat-mediated 3ec7b3ee-3323-11e6-a632-bec270cce0de 15_76793226_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 15 76793226 CA C 600 PASS SCAPER Del intronic 1 9 EXO1 child 15_76793226_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 3ec9c8d2-3288-11e6-a5b3-3f1ebce6aa09 7_3811873_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 3811873 A AT 300 PASS SDK1 Ins intronic 1 6 MSH6 child 7_3811873_AAT_MSH6 1 1 - - - - Ins 3ec9d18e-3287-11e6-9c2b-e85751c54cdd 9_94818523_CTC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 9 94818523 CT C 300 PASS SPTLC1 Del intronic 1 8 EXO1 child 9_94818523_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 3ed3eb5a-3274-11e6-a5d0-4fd14a47a305 2_164667115_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 164667115 TA T 420 PASS AC092684.1 Del intronic 1 5 MSH6 child 2_164667115_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 3ed841e0-3293-11e6-b0a2-5048a178171f 10_56127133_GTG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 10 56127133 GT G 300 PASS PCDH15 Del intronic 1 3 NEIL1 child 10_56127133_GTG_NEIL1 1 1 1 T 2 T Repeat-mediated 3ee2d2f8-3285-11e6-a0a8-096ea2c71c31 11_78379520_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 78379520 AT A 480 PASS TENM4 Del intronic 1 9 MSH6 child 11_78379520_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3ee38300-3272-11e6-9210-65fa620e6611 5_26625698_AACTGCATCTAATTTTTTACA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 26625698 AACTGCATCTAATTTTTTAC A 360 PASS - Del - 19 1 EXO1 parent 5_26625698_AACTGCATCTAATTTTTTACA_EXO1 19 >=10 2 AC 0 - Microhomology-mediated 3ee66522-328e-11e6-bb1e-70e16f39e758 X_37297463_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 37297463 CA C 480 PASS PRRG1 Del intronic 1 7 MSH6 child X_37297463_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 3ee693b4-325a-11e6-8340-da9012ae24cf 6_121560804_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 121560804 AT A 540 PASS TBC1D32 Del intronic 1 9 MSH6 child 6_121560804_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3eeba690-3293-11e6-8d91-0b8730158702 1_155653639_TAAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 1 155653639 TAA T 360 PASS YY1AP1 Del intronic 2 5 NUDT1 child 1_155653639_TAAT_NUDT1 2 2 2 AA 3 A Repeat-mediated 3eec5c90-3282-11e6-b2ac-df03987b3f23 12_47651132_TAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 12 47651132 TA T 420 PASS RP11-493L12.4 Del intronic 1 8 NEIL1 parent 12_47651132_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 3ef40e3c-329f-11e6-bc2c-2a5e25c9da85 4_151597269_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 151597269 AT A 720 PASS LRBA Del intronic 1 9 MSH6 child 4_151597269_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 3ef6a8ca-3346-11e6-994a-5ae3e9d19ece 11_63348137_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 11 63348137 CA C 300 PASS PLA2G16 Del intronic 1 8 FANCC child 11_63348137_CAC_FANCC 1 1 1 A 7 A Repeat-mediated 3ef7288a-3275-11e6-83cd-a472a178171f 4_8821854_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 8821854 TG T 480 PASS - Del - 1 8 MSH6 child 4_8821854_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 3efbeb18-3284-11e6-8362-ce9a69062303 9_28306271_ATGAAGAAGGTGAAAAGGAAAGGAAAGGAAAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 9 28306271 ATGAAGAAGGTGAAAAGGA AAGGAAAGGAAAG 275 PASS LINGO2 Complex intronic 18 0 FANCC child 9_28306271_ATGAAGAAGGTGAAAAGGAAAGGAAAGGAAAG_FANCC 6 6 - - - - Complex 3f136580-328a-11e6-aff5-85090e01a414 16_53408119_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 53408119 CT C 300 PASS RP11-44F14.2 Del upstream 1 9 MSH6 child 16_53408119_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3f16e778-3276-11e6-9e0f-7959cab49462 7_55890922_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 55890922 GT G 960 PASS SEPT14 Del intronic 1 7 MSH6 child 7_55890922_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 3f1fc982-3254-11e6-89d3-d29498816cf3 2_78026031_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 78026031 CA C 540 PASS - Del - 1 6 MSH6 child 2_78026031_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 3f256dd2-328c-11e6-bd84-429305ad5bc4 1_91222269_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 91222269 CT C 660 PASS - Del - 1 9 MSH6 child 1_91222269_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 3f291b18-3272-11e6-94a5-6c01ebb8d062 8_27273606_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 8 27273606 TA T 660 PASS PTK2B Del intronic 1 9 NUDT1 child 8_27273606_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 3f29650c-325c-11e6-8cd9-139b7872c165 3_148563748_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 148563748 A AT 300 PASS CPB1 Ins intronic 1 8 MSH6 child 3_148563748_AAT_MSH6 1 1 - - - - Ins 3f3788fe-328d-11e6-bd84-429305ad5bc4 1_230799778_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 230799778 CA C 300 PASS COG2 Del intronic 1 7 MSH6 child 1_230799778_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 3f3d7b7a-3282-11e6-86cf-8f288e4678dd 10_9062346_AAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 9062346 A AT 300 PASS - Ins - 1 0 FANCC child 10_9062346_AAT_FANCC 1 1 - - - - Ins 3f3e7e2e-3275-11e6-88b6-40832aaffa45 1_158106935_CAGC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 158106935 CAG C 400 PASS RP11-404O13.1 Del intronic 2 6 EXO1 child 1_158106935_CAGC_EXO1 2 2 2 AG 5 AG Repeat-mediated 3f3ecf4a-3285-11e6-a0a8-096ea2c71c31 11_78571766_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 78571766 AT A 840 PASS TENM4 Del intronic 1 8 MSH6 child 11_78571766_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 3f428372-3273-11e6-9e18-3a69671699ea 10_62303276_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 62303276 GA G 600 PASS ANK3 Del intronic 1 8 MSH6 child 10_62303276_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 3f50a7a0-3281-11e6-8857-3d859cdf095d 18_45521747_CAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 18 45521747 CA C 600 PASS - Del - 1 7 POLE child 18_45521747_CAC_POLE 1 1 1 A 6 A Repeat-mediated 3f5c0678-3258-11e6-acc5-308412ae24cf 5_136578497_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 136578497 CA C 780 PASS SPOCK1 Del intronic 1 8 MSH6 child 5_136578497_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 3f5dc09a-3275-11e6-acf7-070eebb8d062 6_115413289_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 6 115413289 TA T 420 PASS - Del - 1 8 NUDT1 child 6_115413289_TAT_NUDT1 1 1 1 A 7 A Repeat-mediated 3f609136-3279-11e6-8c34-46e27872c165 5_90643650_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 90643650 C CA 660 PASS - Ins - 1 1 MSH6 child 5_90643650_CCA_MSH6 1 1 - - - - Ins 3f751d10-326d-11e6-9fba-41ebd8b4fa2c 11_25985426_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 25985426 TA T 300 PASS - Del - 1 7 MSH6 child 11_25985426_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3f7f4938-325a-11e6-9d15-298312ae24cf X_144739352_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 144739352 T TA 420 PASS - Ins - 1 5 MSH6 child X_144739352_TTA_MSH6 1 1 - - - - Ins 3f9b625e-3272-11e6-9b10-3e7da20b69d5 15_52123944_CTC . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 15 52123944 CT C 300 PASS TMOD3 Del intronic 1 9 NUDT1 child 15_52123944_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 3f9cf92c-3324-11e6-9c20-925172d7bc54 3_55279987_TCT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 3 55279987 TC T 600 PASS - Del - 1 5 EXO1 child 3_55279987_TCT_EXO1 1 1 1 C 4 C Repeat-mediated 3fa25742-3288-11e6-9317-6ba56f39e758 8_91365320_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 91365320 TA T 360 PASS LINC00534 Del intronic 1 7 EXO1 child 8_91365320_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 3fa6705c-328d-11e6-a80b-87090e01a414 11_114989202_CCACAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 114989202 C CACAT 300 PASS - Ins - 4 0 MSH6 child 11_114989202_CCACAT_MSH6 4 4 - - - - Ins 3fb34fce-3257-11e6-9d5a-0c8112ae24cf 9_114198476_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 114198476 CA C 360 PASS KIAA0368 Del intronic 1 9 MSH6 child 9_114198476_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 3fb8b882-3285-11e6-be43-0a6ea2c71c31 10_74198345_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 74198345 CA C 696 PASS MICU1 Del intronic 1 8 MSH6 child 10_74198345_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 3fc21ea8-3295-11e6-b4c5-47357a852e0e 8_96547005_TAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 8 96547005 TA T 420 PASS KB-1047C11.2 Del intronic 1 7 CHK2 child 8_96547005_TAT_CHK2 1 1 1 A 6 A Repeat-mediated 3fc34d3e-3347-11e6-8e2c-2279a20b69d5 12_13479701_GTGAGGT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 12 13479701 GTGA GGT 300 PASS - Complex - 3 0 FANCC child 12_13479701_GTGAGGT_FANCC 1 1 - - - - Complex 3fc67d2e-3275-11e6-bfd3-a6593dc9300a X_17486327_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA X 17486327 TA T 480 PASS NHS Del intronic 1 9 EXO1 child X_17486327_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 3fc7e482-3259-11e6-a39a-dc8512ae24cf 8_102362482_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 102362482 TA T 480 PASS - Del - 1 8 MSH6 child 8_102362482_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 3fd4052a-3293-11e6-8b9f-eea73adbad45 3_195809542_GAG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 195809542 GA G 660 PASS TFRC Del upstream 1 4 NEIL1 child 3_195809542_GAG_NEIL1 1 1 1 A 3 A Repeat-mediated 3fda1c5a-3291-11e6-92cf-bf2a0e01a414 6_156508530_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 156508530 GA G 300 PASS - Del - 1 9 MSH6 child 6_156508530_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 3fe3c526-328b-11e6-8eee-76090e01a414 10_127643500_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 127643500 TA T 360 PASS FANK1 Del intronic 1 7 MSH6 child 10_127643500_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 3feb0a2a-3254-11e6-8831-5505ee3c4f5d 1_213353505_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 1 213353505 TA T 840 PASS RPS6KC1 Del intronic 1 9 POLB child 1_213353505_TAT_POLB 1 1 1 A 8 A Repeat-mediated 3ffd8874-3274-11e6-8607-751ad9b4fa2c 22_34145110_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 34145110 CT C 420 PASS LARGE Del intronic 1 8 MSH6 child 22_34145110_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 3ffe2c96-3320-11e6-852e-0bcb24864c47 18_26421091_CAC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 18 26421091 CA C 780 PASS - Del - 1 8 POLE child 18_26421091_CAC_POLE 1 1 1 A 7 A Repeat-mediated 3fffca26-328d-11e6-919e-92c36f39e758 2_116736519_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 116736519 AT A 360 PASS - Del - 1 5 MSH6 child 2_116736519_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 40129498-3289-11e6-a8ff-fbcd191589db 11_18134578_AGAGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 11 18134578 AGAG A 600 PASS - Del - 3 3 FANCC child 11_18134578_AGAGA_FANCC 3 3 3 GAG 2 GAG Repeat-mediated 4023656e-3286-11e6-821e-69f1bbe6aa09 16_74987743_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 74987743 C CA 360 PASS WDR59 Ins intronic 1 6 MSH6 child 16_74987743_CCA_MSH6 1 1 - - - - Ins 40263dd2-328d-11e6-bfa2-581f0e01a414 7_34589867_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 34589867 TA T 300 PASS - Del - 1 8 MSH6 child 7_34589867_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 403d1d54-3279-11e6-8c34-46e27872c165 5_90757999_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 90757999 G GT 262 PASS - Ins - 1 8 MSH6 child 5_90757999_GGT_MSH6 1 1 - - - - Ins 40466568-3273-11e6-b747-d9deed3c4f5d X_2754999_CCTTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA X 2754999 CCTT C 509 PASS GYG2 Del intronic 3 1 MSH6 parent X_2754999_CCTTC_MSH6 3 3 2 CT 0 - Microhomology-mediated 40482b22-3274-11e6-b8ae-92c57872c165 14_41564029_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 41564029 C CA 400 PASS - Ins - 1 8 MSH6 child 14_41564029_CCA_MSH6 1 1 - - - - Ins 404db8c4-328f-11e6-8954-6972fc77b11e 4_46263899_TAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 4 46263899 TA T 660 PASS GABRA2 Del intronic 1 1 POLE child 4_46263899_TAT_POLE 1 1 0 - 0 A None 4058e7fc-3272-11e6-abaf-4642cab49462 6_42389535_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 42389535 TA T 360 PASS TRERF1 Del intronic 1 3 MSH6 child 6_42389535_TAT_MSH6 1 1 1 A 2 A Repeat-mediated 405a2c80-328f-11e6-bb1e-70e16f39e758 X_70605324_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 70605324 CT C 1080 PASS TAF1 Del intronic 1 9 MSH6 child X_70605324_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 40640fc0-329e-11e6-91d0-016425c9da85 7_49180965_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 49180965 GT G 360 PASS - Del - 1 8 MSH6 child 7_49180965_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 406e2268-3270-11e6-8ed8-0863a78019ab 5_106794569_CTC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 5 106794569 CT C 660 PASS EFNA5 Del intronic 1 7 POLM parent 5_106794569_CTC_POLM 1 1 1 T 6 T Repeat-mediated 40731f12-3279-11e6-909e-86e86de4ab00 3_141262049_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 3 141262049 AT A 480 PASS RASA2 Del intronic 1 9 EXO1 child 3_141262049_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 407495ec-329a-11e6-8d0f-075325c9da85 14_42801464_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 42801464 CA C 840 PASS - Del - 1 4 MSH6 child 14_42801464_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 4074ded6-3258-11e6-b4fa-e69a7872c165 21_47663396_CGC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 47663396 CG C 540 PASS MCM3AP Del frameshift 1 7 MSH6 child 21_47663396_CGC_MSH6 1 1 1 G 6 G Repeat-mediated 407ec248-329e-11e6-bc2c-2a5e25c9da85 4_85597372_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 85597372 GA G 660 PASS WDFY3 Del intronic 1 9 MSH6 child 4_85597372_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 407fbf28-328e-11e6-919e-92c36f39e758 2_186245765_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 186245765 CA C 360 PASS - Del - 1 9 MSH6 child 2_186245765_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 40877e9a-3273-11e6-975f-8246cab49462 16_50467226_GTCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 50467226 GTC G 420 PASS - Del - 2 2 MSH6 child 16_50467226_GTCG_MSH6 2 2 2 TC 1 TC Repeat-mediated 408f52ba-3277-11e6-9e0f-7959cab49462 7_120075534_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 120075534 AT A 300 PASS KCND2 Del intronic 1 9 MSH6 child 7_120075534_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 40978988-3283-11e6-9881-48b254de4fc4 5_91937147_AAGTGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 5 91937147 AAGTG A 600 PASS RP11-133F8.2 Del intronic 4 1 FANCC child 5_91937147_AAGTGA_FANCC 4 4 0 - 0 - None 409c8d62-3273-11e6-9d14-07ddcde16804 18_31799544_ACA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 18 31799544 AC A 420 PASS NOL4 Del intronic 1 1 POLB child 18_31799544_ACA_POLB 1 1 0 - 0 C None 40a3cd36-3276-11e6-bfb2-2749c225ee11 12_128355646_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 128355646 C CA 447 PASS - Ins - 1 5 MSH6 child 12_128355646_CCA_MSH6 1 1 - - - - Ins 40a64f40-3274-11e6-aa3b-ca60a178171f 13_43322355_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 43322355 A AT 480 PASS - Ins - 1 8 MSH6 child 13_43322355_AAT_MSH6 1 1 - - - - Ins 40ac945c-3294-11e6-84ea-9945fa52e078 7_70033522_GAG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 7 70033522 GA G 300 PASS AUTS2 Del intronic 1 9 NUDT1 child 7_70033522_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated 40bb244e-328b-11e6-b90a-464ed5dcf142 5_22244255_CAATTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 5 22244255 CAATT C 420 PASS CDH12 Del intronic 4 1 NUDT1 child 5_22244255_CAATTC_NUDT1 4 4 3 AAT 0 - Microhomology-mediated 40c2f72e-3276-11e6-b96a-e20a1ea8ec0e 7_136886561_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 7 136886561 CT C 300 PASS - Del - 1 8 FANCC child 7_136886561_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 40cab4bc-3282-11e6-906b-a52236fc2f7d 15_83892303_CAC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 15 83892303 CA C 495 PASS - Del - 1 5 NUDT1 child 15_83892303_CAC_NUDT1 1 1 1 A 4 A Repeat-mediated 40d5846a-3277-11e6-a2b7-2d8b671699ea 21_9987171_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 9987171 C CA 357 PASS - Ins - 1 3 MSH6 child 21_9987171_CCA_MSH6 1 1 - - - - Ins 40e4bd4a-326d-11e6-9003-ae204b47a305 19_33452561_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 33452561 CT C 300 PASS CEP89 Del intronic 1 8 MSH6 child 19_33452561_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 40e6664c-328e-11e6-a471-36059c6d3b88 12_77714499_GTATTTTG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 12 77714499 GTATTTT G 540 PASS RP1-34H18.1 Del upstream 6 1 POLB child 12_77714499_GTATTTTG_POLB 6 6 2 TA 0 - Microhomology-mediated 40eb583e-328c-11e6-8770-3e160e01a414 9_38301345_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 38301345 CT C 840 PASS - Del - 1 7 MSH6 child 9_38301345_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 40f2081c-3257-11e6-acc5-308412ae24cf 5_58396623_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 58396623 GT G 600 PASS PDE4D Del intronic 1 5 MSH6 child 5_58396623_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 40fedf66-328d-11e6-b8e6-91c36f39e758 11_114522812_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 114522812 AT A 360 PASS - Del - 1 9 MSH6 child 11_114522812_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4104bc48-3327-11e6-95a6-476ac042253c 3_157355508_TAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 157355508 TA T 300 PASS - Del - 1 8 CHK2 child 3_157355508_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 411413e0-3256-11e6-9d5a-0c8112ae24cf 9_29832963_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 29832963 TG T 660 PASS - Del - 1 6 MSH6 child 9_29832963_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 411c35ae-3326-11e6-9c15-89c8cde16804 6_106462629_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 6 106462629 AT A 480 PASS - Del - 1 9 POLE child 6_106462629_ATA_POLE 1 1 1 T 8 T Repeat-mediated 411da2c6-3273-11e6-9e18-3a69671699ea 10_62838611_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 62838611 CT C 480 PASS - Del - 1 9 MSH6 child 10_62838611_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4125a41a-3275-11e6-8b60-4700d9b4fa2c 10_99846618_TTA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 10 99846618 T TA 480 PASS - Ins - 1 6 NUDT1 child 10_99846618_TTA_NUDT1 1 1 - - - - Ins 4128918e-3257-11e6-9d5a-0c8112ae24cf 9_114486629_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 114486629 CT C 600 PASS C9orf84 Del intronic 1 8 MSH6 child 9_114486629_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4131c950-3321-11e6-a947-acb5cde16804 15_55202654_CAC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 15 55202654 CA C 480 PASS - Del - 1 5 POLE child 15_55202654_CAC_POLE 1 1 1 A 4 A Repeat-mediated 4131d34a-328c-11e6-9c89-8d090e01a414 1_177828586_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 177828586 GT G 420 PASS - Del - 1 9 MSH6 child 1_177828586_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4133b52e-3274-11e6-bfb2-2749c225ee11 12_123793061_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 123793061 CA C 600 PASS SBNO1 Del intronic 1 8 MSH6 child 12_123793061_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 414603f4-3275-11e6-bf90-64cd7872c165 6_107889882_TGTGT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 6 107889882 TGTG T 600 PASS SOBP Del intronic 3 2 POLM child 6_107889882_TGTGT_POLM 3 3 3 GTG 1 GTG Repeat-mediated 41525340-3273-11e6-a5d0-4fd14a47a305 2_73585842_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 73585842 CT C 540 PASS - Del - 1 7 MSH6 child 2_73585842_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4156b23c-325a-11e6-885f-d1947872c165 4_95615106_AATC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 95615106 A ATC 360 PASS RP11-554D13.1 Ins intronic 2 6 MSH6 child 4_95615106_AATC_MSH6 2 2 - - - - Ins 4162ad32-3285-11e6-b093-c9c7b0dab373 2_66120923_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 66120923 CA C 360 PASS AC074391.1 Del intronic 1 8 MSH6 child 2_66120923_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 416c7220-3291-11e6-b81f-4ee66f39e758 8_104974067_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 104974067 AT A 720 PASS RIMS2 Del intronic 1 7 MSH6 child 8_104974067_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 417344d0-3325-11e6-ac04-f58619a91649 3_102340887_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 3 102340887 CA C 280 PASS - Del - 1 9 CHK2 child 3_102340887_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 417b850c-328d-11e6-919e-92c36f39e758 2_117306562_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 117306562 GT G 660 PASS - Del - 1 9 MSH6 child 2_117306562_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 417db488-328f-11e6-b6a6-1f1e0e01a414 4_174344510_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 174344510 CA C 360 PASS - Del - 1 6 MSH6 child 4_174344510_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 417dd47e-3292-11e6-a1ea-b9b6e7d0bdd7 11_75396569_TGT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 11 75396569 TG T 360 PASS - Del - 1 1 NUDT1 child 11_75396569_TGT_NUDT1 1 1 0 - 0 G None 418c0024-3258-11e6-8cd9-139b7872c165 3_52402598_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 52402598 CA C 360 PASS DNAH1 Del intronic 1 7 MSH6 child 3_52402598_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 418fb328-3289-11e6-821d-8c090e01a414 13_20786569_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 20786569 GA G 300 PASS - Del - 1 9 MSH6 child 13_20786569_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 41950734-3288-11e6-a8ac-a28ea2c71c31 3_57452483_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 57452483 AT A 420 PASS DNAH12 Del intronic 1 9 MSH6 child 3_57452483_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 41a2243a-329e-11e6-b696-dd6225c9da85 5_73966011_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 73966011 GT G 540 PASS - Del - 1 8 MSH6 child 5_73966011_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 41a93cc8-3287-11e6-a5b3-3f1ebce6aa09 7_75352073_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 75352073 AT A 540 PASS HIP1 Del intronic 1 8 MSH6 child 7_75352073_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 41aab47a-327a-11e6-b5ff-0de46de4ab00 5_160274668_AAT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 5 160274668 A AT 360 PASS ATP10B Ins intronic 1 4 POLB child 5_160274668_AAT_POLB 1 1 - - - - Ins 41b161be-3291-11e6-b9c4-751d0e01a414 5_173598075_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 173598075 C CT 300 PASS - Ins - 1 6 MSH6 child 5_173598075_CCT_MSH6 1 1 - - - - Ins 41b4d756-3271-11e6-9309-bdc34a47a305 8_103426366_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 103426366 GT G 300 PASS UBR5 Del upstream 1 9 MSH6 child 8_103426366_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 41b8b9ca-3276-11e6-81cf-37408a20d9eb 8_16693848_TCT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 16693848 TC T 300 PASS RP11-13N12.1 Del intronic 1 2 EXO1 child 8_16693848_TCT_EXO1 1 1 1 C 1 C Repeat-mediated 41bcc978-3278-11e6-a391-f6d67d6a9fc7 6_46333252_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 46333252 GA G 300 PASS RCAN2 Del intronic 1 7 MSH6 child 6_46333252_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 41c7c948-3270-11e6-8a6f-43b190e2c2e6 11_89401689_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 11 89401689 AT A 674 PASS - Del - 1 3 POLB child 11_89401689_ATA_POLB 1 1 1 T 2 T Repeat-mediated 41cbb402-329a-11e6-8069-175325c9da85 12_22965431_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 22965431 AT A 480 PASS RP11-114G22.1 Del intronic 1 2 MSH6 child 12_22965431_ATA_MSH6 1 1 1 T 1 T Repeat-mediated 41d372e2-328f-11e6-84a5-b1e2977b3f23 7_45936869_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 7 45936869 TA T 660 PASS IGFBP1 Del downstream 1 8 NEIL1 child 7_45936869_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 41d3bf6e-328e-11e6-8f31-bfe16f39e758 9_25312096_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 25312096 GT G 480 PASS - Del - 1 6 MSH6 child 9_25312096_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 41dd8e94-3271-11e6-9309-bdc34a47a305 8_103453230_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 103453230 GA G 360 PASS - Del - 1 9 MSH6 child 8_103453230_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 41e33c82-3293-11e6-a9cd-ea307a852e0e 9_123861775_TCTCT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 9 123861775 TCTC T 420 PASS CNTRL Del intronic 3 2 CHK2 child 9_123861775_TCTCT_CHK2 3 3 3 CTC 1 CTC Repeat-mediated 41e60c9a-3285-11e6-987c-0aa669062303 22_50232381_TCT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 22 50232381 TC T 360 PASS RP3-522J7.6 Del upstream 1 1 POLE parent 22_50232381_TCT_POLE 1 1 0 - 0 C None 41fefaae-3274-11e6-9e18-3a69671699ea 10_125100791_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 125100791 GA G 393 PASS - Del - 1 7 MSH6 child 10_125100791_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 42026d7c-3285-11e6-821e-69f1bbe6aa09 16_75762972_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 75762972 AT A 600 PASS - Del - 1 6 MSH6 child 16_75762972_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 42117494-328e-11e6-8f31-bfe16f39e758 9_25382574_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 25382574 CA C 360 PASS - Del - 1 8 MSH6 child 9_25382574_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4215f2ba-329f-11e6-b696-dd6225c9da85 5_140584079_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 140584079 CT C 660 PASS PCDHB12 Del upstream 1 5 MSH6 child 5_140584079_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 42196a74-334b-11e6-be18-768ca20b69d5 3_160891820_CTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 160891820 CT C 300 PASS NMD3 Del intronic 1 7 FANCC child 3_160891820_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 421b61f0-329f-11e6-8c2e-3f6625c9da85 22_34389481_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 34389481 G GA 420 PASS - Ins - 1 8 MSH6 child 22_34389481_GGA_MSH6 1 1 - - - - Ins 421fde64-3287-11e6-b7eb-5479a178171f 12_107700281_ATCTTGATGTCTAATGA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 12 107700281 ATCTTGATGTCTAATG A 540 PASS - Del - 15 1 FANCC child 12_107700281_ATCTTGATGTCTAATGA_FANCC 15 >=10 1 T 0 - Microhomology-mediated 422557c0-3284-11e6-83b0-2c6e0d016689 2_56721299_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 56721299 AT A 360 PASS - Del - 1 9 EXO1 child 2_56721299_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 422b6f62-326f-11e6-acc7-e55219a91649 1_233489076_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 233489076 TA T 360 PASS MLK4 Del intronic 1 5 MSH6 child 1_233489076_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 422bdc44-3252-11e6-b4a3-5805ee3c4f5d 13_79308236_GTCG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 13 79308236 GTC G 660 PASS - Del - 2 2 POLB child 13_79308236_GTCG_POLB 2 2 2 TC 1 TC Repeat-mediated 422faaec-328c-11e6-9c89-8d090e01a414 1_178100220_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 178100220 CA C 300 PASS RASAL2 Del intronic 1 9 MSH6 child 1_178100220_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4230f040-328d-11e6-bfa2-581f0e01a414 7_35442363_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 35442363 TA T 600 PASS - Del - 1 8 MSH6 child 7_35442363_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4239cdca-3290-11e6-9401-04ed6f39e758 3_18718512_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 18718512 CT C 415 PASS - Del - 1 9 MSH6 child 3_18718512_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 423bf078-3277-11e6-a71d-236235cec73b X_98740465_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 98740465 CT C 300 PASS - Del - 1 9 MSH6 child X_98740465_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 423dd888-325a-11e6-8340-da9012ae24cf 6_122344582_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 122344582 CT C 360 PASS - Del - 1 8 MSH6 child 6_122344582_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 424a1726-3253-11e6-b4a3-5805ee3c4f5d 13_71492734_TTA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 13 71492734 T TA 480 PASS - Ins - 1 7 POLB child 13_71492734_TTA_POLB 1 1 - - - - Ins 424ea898-328c-11e6-aa75-90c36f39e758 13_65424028_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 65424028 AT A 420 PASS - Del - 1 7 MSH6 child 13_65424028_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 424f07fc-3273-11e6-911e-695d66a58581 21_23889621_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 21 23889621 TA T 300 PASS AP000959.2 Del intronic 1 6 POLB child 21_23889621_TAT_POLB 1 1 1 A 5 A Repeat-mediated 42530d32-328e-11e6-b6a6-1f1e0e01a414 4_113021101_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 113021101 TA T 300 PASS - Del - 1 9 MSH6 child 4_113021101_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 425531e8-3275-11e6-86e1-8d021ea8ec0e X_100896918_CTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA X 100896918 CT C 420 PASS - Del - 1 9 POLB child X_100896918_CTC_POLB 1 1 1 T 8 T Repeat-mediated 4258a6a4-3322-11e6-bc94-01ed0322d171 16_83203132_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 16 83203132 CT C 300 PASS CDH13 Del intronic 1 9 EXO1 child 16_83203132_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 4261f6ee-3324-11e6-a3ad-101f42c4520d 22_26753604_AAAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 22 26753604 A AAT 600 PASS SEZ6L Ins intronic 2 4 CHK2 child 22_26753604_AAAT_CHK2 2 2 - - - - Ins 4263d0fc-3272-11e6-b89d-b2d6b0dab373 4_183987318_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 183987318 CA C 300 PASS - Del - 1 8 MSH6 child 4_183987318_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 42687058-328b-11e6-b805-77090e01a414 2_133169914_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 133169914 TA T 420 PASS GPR39 Del upstream 1 9 MSH6 child 2_133169914_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 426882e6-326d-11e6-b2ac-b6204b47a305 17_38408408_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 38408408 TA T 300 PASS WIPF2 Del intronic 1 8 MSH6 child 17_38408408_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 426c1264-3270-11e6-8418-1c5942c4520d 3_30073945_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 30073945 GT G 360 PASS - Del - 1 7 MSH6 child 3_30073945_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 426d1ce2-328c-11e6-ac7a-a3c36f39e758 18_49352100_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 49352100 CA C 360 PASS - Del - 1 4 MSH6 child 18_49352100_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 4271e888-3293-11e6-8fe7-6c0fb968caf4 13_102726304_CCTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 13 102726304 CCT C 360 PASS FGF14 Del intronic 2 5 POLB child 13_102726304_CCTC_POLB 2 2 2 CT 4 CT Repeat-mediated 4273bf06-3274-11e6-84df-cb0cebb8d062 14_73536922_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 14 73536922 AT A 360 PASS RBM25 Del intronic 1 9 EXO1 child 14_73536922_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 427f3ffe-329a-11e6-a0ea-135325c9da85 15_37453232_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 37453232 CA C 480 PASS - Del - 1 9 MSH6 child 15_37453232_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4294421e-329a-11e6-bda6-065325c9da85 13_43051548_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 43051548 TA T 300 PASS - Del - 1 9 MSH6 child 13_43051548_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 42947db0-3349-11e6-a9cc-a0a270cce0de 2_219716603_GTTCAAGCGATTCG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 219716603 GTTCAAGCGATTC G 480 PASS - Del - 12 1 FANCC child 2_219716603_GTTCAAGCGATTCG_FANCC 12 >=10 1 T 0 - Microhomology-mediated 42966d96-329a-11e6-8d0f-075325c9da85 14_43280866_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 43280866 AT A 540 PASS - Del - 1 9 MSH6 child 14_43280866_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 429a1884-3276-11e6-83cd-a472a178171f 4_86826427_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 86826427 AT A 660 PASS ARHGAP24 Del intronic 1 7 MSH6 child 4_86826427_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 429af2aa-3257-11e6-91d3-a68412ae24cf 7_56711072_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 56711072 AT A 360 PASS - Del - 1 6 MSH6 child 7_56711072_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 429d2442-329a-11e6-9048-b49fcc638e3d 17_17989415_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 17989415 CA C 420 PASS DRG2 Del upstream 1 9 MSH6 child 17_17989415_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 42a0a6b8-328f-11e6-81d1-7ea5e7d0bdd7 3_164417398_ATA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 3 164417398 AT A 540 PASS - Del - 1 7 POLM child 3_164417398_ATA_POLM 1 1 1 T 6 T Repeat-mediated 42a5a454-328c-11e6-bd84-429305ad5bc4 1_92692615_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 92692615 CT C 600 PASS C1orf146 Del intronic 1 8 MSH6 child 1_92692615_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 42a71a2a-3325-11e6-95a6-476ac042253c 3_35055755_TAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 35055755 TA T 285 PASS - Del - 1 7 CHK2 child 3_35055755_TAT_CHK2 1 1 1 A 6 A Repeat-mediated 42aa1ef2-326f-11e6-819e-9d1aa20b69d5 11_29022009_ACCATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 29022009 ACCAT A 660 PASS RP11-115J23.1 Del intronic 4 1 EXO1 parent 11_29022009_ACCATA_EXO1 4 4 0 - 0 - None 42c54e98-3274-11e6-8f33-a6d9cde16804 11_26991907_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 26991907 C CA 261 PASS - Ins - 1 5 MSH6 child 11_26991907_CCA_MSH6 1 1 - - - - Ins 42cfc8c2-3257-11e6-89d3-d29498816cf3 2_157128113_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 157128113 C CA 600 PASS - Ins - 1 7 MSH6 child 2_157128113_CCA_MSH6 1 1 - - - - Ins 42d83d24-329b-11e6-aca6-b39fcc638e3d 2_96735513_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 96735513 CT C 315 PASS - Del - 1 7 MSH6 child 2_96735513_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 42ea2ad4-328c-11e6-bbaf-7c090e01a414 19_57384508_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 57384508 C CA 360 PASS - Ins - 1 6 MSH6 child 19_57384508_CCA_MSH6 1 1 - - - - Ins 42eba7fc-3321-11e6-86a6-3f737098ee92 14_54828522_ACAAAAATTAGCCAGGA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 14 54828522 ACAAAAATTAGCCAGG A 420 PASS - Del - 15 1 POLE child 14_54828522_ACAAAAATTAGCCAGGA_POLE 15 >=10 1 C 0 - Microhomology-mediated 42fa90d6-32a0-11e6-bc66-17b4cc638e3d 8_94183870_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 94183870 GA G 480 PASS C8orf87 Del upstream 1 8 MSH6 child 8_94183870_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4305f180-3271-11e6-a15b-aa11cd638e3d 13_60029172_CTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 13 60029172 CT C 540 PASS - Del - 1 6 CHK2 child 13_60029172_CTC_CHK2 1 1 1 T 5 T Repeat-mediated 43081820-3285-11e6-ac69-110e987b3f23 X_87940746_TAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA X 87940746 TA T 360 PASS - Del - 1 4 NEIL1 parent X_87940746_TAT_NEIL1 1 1 1 A 3 A Repeat-mediated 431051a6-329f-11e6-b696-dd6225c9da85 5_140881906_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 140881906 AT A 900 PASS PCDHGA12 Del intronic 1 7 MSH6 child 5_140881906_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 431697ee-326f-11e6-b5b8-e0c24a47a305 X_21638938_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 21638938 GA G 480 PASS CNKSR2 Del intronic 1 8 MSH6 child X_21638938_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4320a042-3254-11e6-8ebc-3ef212ae24cf 15_57532489_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 57532489 TA T 480 PASS TCF12 Del intronic 1 7 MSH6 child 15_57532489_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 43268c56-32a3-11e6-b970-398625c9da85 20_57048292_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 57048292 CT C 300 PASS APCDD1L Del intronic 1 9 MSH6 child 20_57048292_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 432b6ab4-3271-11e6-b630-aeceb41afd22 17_26107835_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 17 26107835 AT A 780 PASS NOS2 Del frameshift 1 3 FANCC child 17_26107835_ATA_FANCC 1 1 1 T 2 T Repeat-mediated 432c7c52-3298-11e6-8879-9b3e8cd8cd69 1_184540272_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 1 184540272 CA C 360 PASS C1orf21 Del intronic 1 9 CHK2 child 1_184540272_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 433fa576-3288-11e6-bb85-03a66f39e758 4_142510452_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 142510452 GA G 300 PASS - Del - 1 8 EXO1 child 4_142510452_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 4353bfa4-329a-11e6-a5cf-205325c9da85 11_24899002_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 24899002 AT A 300 PASS LUZP2 Del intronic 1 5 MSH6 child 11_24899002_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 4355308e-3284-11e6-9b81-af532a2d4995 3_100320093_TGT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 3 100320093 TG T 300 PASS - Del - 1 5 NUDT1 child 3_100320093_TGT_NUDT1 1 1 1 G 4 G Repeat-mediated 43561b6a-329e-11e6-91d0-016425c9da85 7_49750498_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 49750498 CA C 840 PASS - Del - 1 7 MSH6 child 7_49750498_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 43581aa8-3278-11e6-92d2-c259c225ee11 3_141418029_GCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 141418029 GC G 300 PASS RP11-340E6.1 Del intronic 1 6 MSH6 child 3_141418029_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 435e55d2-328a-11e6-821d-8c090e01a414 13_79013004_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 79013004 CA C 300 PASS - Del - 1 9 MSH6 child 13_79013004_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4363198e-3292-11e6-9401-04ed6f39e758 3_161715647_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 161715647 GT G 720 PASS - Del - 1 9 MSH6 child 3_161715647_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4367fdf2-329a-11e6-aca6-b39fcc638e3d 2_33577548_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 33577548 CT C 480 PASS LTBP1 Del intronic 1 8 MSH6 child 2_33577548_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 43695236-329c-11e6-a5cf-e5abcc638e3d 9_1680485_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 1680485 TA T 420 PASS - Del - 1 7 MSH6 child 9_1680485_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 436c90a6-3254-11e6-bc65-c9667872c165 13_73367814_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 73367814 TA T 480 PASS PIBF1 Del intronic 1 6 MSH6 child 13_73367814_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 43725d88-3281-11e6-9a8a-d755f7d33ce3 11_57204713_CATAC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 11 57204713 CATA C 360 PASS - Del - 3 2 NUDT1 child 11_57204713_CATAC_NUDT1 3 3 3 ATA 1 ATA Repeat-mediated 4379c956-3290-11e6-b837-bf257a852e0e 13_78271064_GGCACAGAGTAGGTGCTCAAAGATCTTTTG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 13 78271064 GGCACAGAGTAGGTGCTCAAAGATCTTTT G 600 PASS SLAIN1 Del upstream 28 1 CHK2 child 13_78271064_GGCACAGAGTAGGTGCTCAAAGATCTTTTG_CHK2 28 >=10 1 G 0 - Microhomology-mediated 437cf8e8-3285-11e6-a8ad-04770d016689 9_7296226_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 7296226 CA C 360 PASS - Del - 1 8 EXO1 child 9_7296226_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 43816e54-3272-11e6-8e5c-87d3d7fd0a58 1_234822605_GAG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 1 234822605 GA G 660 PASS RP4-781K5.6 Del intronic 1 9 POLB child 1_234822605_GAG_POLB 1 1 1 A 8 A Repeat-mediated 438fad8e-3277-11e6-a71d-236235cec73b X_99288883_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 99288883 AT A 360 PASS - Del - 1 6 MSH6 child X_99288883_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 4390782e-3289-11e6-a100-84090e01a414 18_2311873_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 2311873 AT A 300 PASS - Del - 1 6 MSH6 child 18_2311873_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 4395094e-3288-11e6-997d-e46e3adbad45 12_131031766_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 12 131031766 TA T 600 PASS RIMBP2 Del intronic 1 9 NUDT1 parent 12_131031766_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 4398c530-328c-11e6-ac7a-a3c36f39e758 18_49648684_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 49648684 TA T 540 PASS - Del - 1 8 MSH6 child 18_49648684_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 439e2112-328f-11e6-bb1e-70e16f39e758 X_71624293_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 71624293 CT C 360 PASS HDAC8 Del intronic 1 7 MSH6 child X_71624293_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 439eb49a-3273-11e6-bfb2-2749c225ee11 12_62612524_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 62612524 CT C 780 PASS FAM19A2 Del intronic 1 9 MSH6 child 12_62612524_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 43a26db6-3290-11e6-8e48-791e0e01a414 8_21299276_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 21299276 C CA 540 PASS - Ins - 1 7 MSH6 child 8_21299276_CCA_MSH6 1 1 - - - - Ins 43ae019e-329a-11e6-8d0f-075325c9da85 14_43637276_CTGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 43637276 CTG C 480 PASS - Del - 2 7 MSH6 child 14_43637276_CTGC_MSH6 2 2 2 TG 6 TG Repeat-mediated 43b03a2e-327f-11e6-ac5a-c6aa3adbad45 X_124368454_TCT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA X 124368454 TC T 1020 PASS - Del - 1 1 NUDT1 child X_124368454_TCT_NUDT1 1 1 0 - 0 C None 43b28968-3276-11e6-8295-ecba9b6d3b88 5_95096037_TTAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 5 95096037 TTA T 300 PASS RHOBTB3 Del intronic 2 2 EXO1 child 5_95096037_TTAT_EXO1 2 2 2 TA 1 TA Repeat-mediated 43bcc8d8-328a-11e6-ad64-7189a178171f 5_138774090_CAGTTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 138774090 CAGTT C 300 PASS DNAJC18 Del intronic 4 1 FANCC child 5_138774090_CAGTTC_FANCC 4 4 3 AGT 0 - Microhomology-mediated 43be2812-328b-11e6-a2c2-fa8aa178171f 8_102544574_TCT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 8 102544574 TC T 480 PASS GRHL2 Del intronic 1 1 FANCC child 8_102544574_TCT_FANCC 1 1 0 - 0 C None 43c6b49c-3276-11e6-8717-f13d8a20d9eb 6_66814462_CAC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 6 66814462 CA C 480 PASS - Del - 1 8 CHK2 child 6_66814462_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 43e11c0a-3272-11e6-8418-1c5942c4520d 3_9015648_CCTAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 9015648 C CTAT 300 PASS - Ins - 3 4 MSH6 child 3_9015648_CCTAT_MSH6 3 3 - - - - Ins 43f1350a-3258-11e6-acc5-308412ae24cf 5_137553053_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 137553053 AT A 900 PASS CDC23 Del upstream 1 9 MSH6 child 5_137553053_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 43fb0d6e-328f-11e6-8954-6972fc77b11e 4_47844766_GTG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 4 47844766 GT G 480 PASS CORIN Del upstream 1 3 POLE child 4_47844766_GTG_POLE 1 1 1 T 2 T Repeat-mediated 4400a71e-3290-11e6-9230-fb250e01a414 3_153899825_GGTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 153899825 GGT G 300 PASS ARHGEF26 Del intronic 2 7 MSH6 child 3_153899825_GGTG_MSH6 2 2 2 GT 6 GT Repeat-mediated 440fec1c-3324-11e6-9271-15989d7ad846 5_60183585_AACA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 5 60183585 AAC A 300 PASS ERCC8 Del intronic 2 3 CHK2 child 5_60183585_AACA_CHK2 2 2 2 AC 2 AC Repeat-mediated 44144940-329a-11e6-b129-195325c9da85 16_21664490_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 21664490 GA G 840 PASS METTL9 Del intronic 1 2 MSH6 child 16_21664490_GAG_MSH6 1 1 1 A 1 A Repeat-mediated 44154df4-3290-11e6-8d00-b1b0e7d0bdd7 5_5219224_ACA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 5219224 AC A 420 PASS ADAMTS16 Del intronic 1 7 FANCC child 5_5219224_ACA_FANCC 1 1 1 C 6 C Repeat-mediated 4417e302-3254-11e6-bc65-c9667872c165 13_73496806_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 73496806 TA T 1020 PASS PIBF1 Del intronic 1 9 MSH6 child 13_73496806_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4423cb10-3270-11e6-a539-0e5542c4520d 7_92071322_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 92071322 TA T 420 PASS - Del - 1 9 MSH6 child 7_92071322_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4424a346-3275-11e6-b7b8-aca7ecf1e924 12_115848535_TAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 12 115848535 TA T 300 PASS - Del - 1 7 NEIL1 child 12_115848535_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated 442d9c6c-3270-11e6-a6cd-d6ad4dc77248 2_117156416_GAG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 2 117156416 GA G 720 PASS - Del - 1 8 NUDT1 child 2_117156416_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated 4432caee-3274-11e6-b762-5bdc6de4ab00 16_61206244_CAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 16 61206244 CA C 420 PASS - Del - 1 9 EXO1 child 16_61206244_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 4438c516-3283-11e6-be6a-5ebd2daed38e 9_124269308_GAG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 9 124269308 GA G 480 PASS - Del - 1 9 POLB child 9_124269308_GAG_POLB 1 1 1 A 8 A Repeat-mediated 443c5bd0-3275-11e6-b2b6-6589a20b69d5 8_107645490_CAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 8 107645490 CA C 600 PASS OXR1 Del intronic 1 9 POLB child 8_107645490_CAC_POLB 1 1 1 A 8 A Repeat-mediated 443ce10e-3275-11e6-8caa-7235b51afd22 9_15011074_GTG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 9 15011074 GT G 360 PASS - Del - 1 5 EXO1 child 9_15011074_GTG_EXO1 1 1 1 T 4 T Repeat-mediated 443e01ac-3274-11e6-b89d-b2d6b0dab373 4_128052386_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 128052386 C CA 300 PASS RP11-125O18.1 Ins intronic 1 8 MSH6 child 4_128052386_CCA_MSH6 1 1 - - - - Ins 44475a64-328c-11e6-bd84-429305ad5bc4 1_93554131_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 93554131 AT A 660 PASS MTF2 Del intronic 1 9 MSH6 child 1_93554131_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4448ae4c-3272-11e6-8e5c-87d3d7fd0a58 1_234991012_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 1 234991012 AT A 720 PASS - Del - 1 8 POLB child 1_234991012_ATA_POLB 1 1 1 T 7 T Repeat-mediated 444acfdc-32a0-11e6-bc66-17b4cc638e3d 8_94476228_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 94476228 AT A 600 PASS - Del - 1 4 MSH6 child 8_94476228_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 444b42e0-328d-11e6-9777-62d8191589db 5_94828340_CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 94828340 CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA C 300 PASS TTC37 Del intronic 34 1 FANCC child 5_94828340_CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAC_FANCC 34 >=10 15 AAAAAAAAAAAAAAA 0 - Microhomology-mediated 44613566-329a-11e6-b723-b29fcc638e3d 19_16079000_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 16079000 CA C 1012 PASS - Del - 1 8 MSH6 child 19_16079000_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4462eea0-3287-11e6-b84c-a2a0fc1f1540 1_231045324_GCCGAGATCGCTCCAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 231045324 GCCGAGATCGCTCCA G 360 PASS TTC13 Del intronic 14 1 FANCC child 1_231045324_GCCGAGATCGCTCCAG_FANCC 14 >=10 3 CCG 0 - Microhomology-mediated 44647114-328f-11e6-bfa2-581f0e01a414 7_153225906_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 153225906 CT C 720 PASS - Del - 1 7 MSH6 child 7_153225906_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 44683a04-329b-11e6-a0ea-135325c9da85 15_71006058_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 71006058 AT A 780 PASS UACA Del intronic 1 8 MSH6 child 15_71006058_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4469f200-3254-11e6-b4d0-327a7872c165 11_48243064_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 48243064 GT G 540 PASS OR4B1 Del downstream 1 9 MSH6 child 11_48243064_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 446bbe1a-3294-11e6-b77d-2eef6f39e758 6_78682135_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 78682135 A AT 720 PASS - Ins - 1 6 MSH6 child 6_78682135_AAT_MSH6 1 1 - - - - Ins 446cc968-328f-11e6-88c7-2ba6e7d0bdd7 6_139547451_AAAAAAAAAAAAAAGA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 6 139547451 AAAAAAAAAAAAAAG A 290 PASS - Del - 14 1 POLM child 6_139547451_AAAAAAAAAAAAAAGA_POLM 14 >=10 1 A 0 - Microhomology-mediated 4472748e-326d-11e6-b2ac-b6204b47a305 17_38985169_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 38985169 AT A 300 PASS TMEM99 Del intronic 1 7 MSH6 child 17_38985169_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 4484bf9c-329d-11e6-8069-175325c9da85 12_57750734_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 57750734 C CA 300 PASS R3HDM2 Ins intronic 1 4 MSH6 child 12_57750734_CCA_MSH6 1 1 - - - - Ins 448b7cf8-3291-11e6-bb1e-70e16f39e758 X_98371174_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 98371174 T TA 360 PASS - Ins - 1 7 MSH6 child X_98371174_TTA_MSH6 1 1 - - - - Ins 448d9a26-3285-11e6-8ebc-68f1bbe6aa09 18_13041560_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 13041560 C CT 300 PASS CEP192 Ins intronic 1 8 MSH6 child 18_13041560_CCT_MSH6 1 1 - - - - Ins 448dc734-3277-11e6-b337-78fbd8b4fa2c 2_231618875_AAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 231618875 A AC 840 PASS CAB39 Ins intronic 1 3 POLB child 2_231618875_AAC_POLB 1 1 - - - - Ins 44904582-3285-11e6-a0a8-096ea2c71c31 11_81218363_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 81218363 CT C 600 PASS - Del - 1 9 MSH6 child 11_81218363_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 449b2634-3274-11e6-9ef9-d85a25c9da85 3_125427512_CGAC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 3 125427512 CGA C 540 PASS - Del - 2 5 POLM child 3_125427512_CGAC_POLM 2 2 2 GA 4 GA Repeat-mediated 44a1759c-328e-11e6-be52-ac74fd44d094 20_3994910_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 20 3994910 GA G 540 PASS RNF24 Del intronic 1 8 FANCC child 20_3994910_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 44a90a12-329f-11e6-bc2c-2a5e25c9da85 4_152270834_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 152270834 TA T 660 PASS RP11-731D1.4 Del intronic 1 8 MSH6 child 4_152270834_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 44b1ae34-328f-11e6-aaa2-31b34430f757 4_15479586_GAG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 4 15479586 GA G 780 PASS CC2D2A Del intronic 1 9 POLE child 4_15479586_GAG_POLE 1 1 1 A 8 A Repeat-mediated 44b3af2e-3288-11e6-b32c-fd87a2c71c31 5_35373056_TTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 35373056 T TC 420 PASS - Ins - 1 1 MSH6 child 5_35373056_TTC_MSH6 1 1 - - - - Ins 44bcc988-3292-11e6-b0cf-8b7219a91649 7_125407963_CAAGTAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 125407963 CAAGTA C 600 PASS - Del - 5 2 NEIL1 child 7_125407963_CAAGTAC_NEIL1 5 5 5 AAGTA 1 AAGTA Repeat-mediated 44c26232-3290-11e6-9d24-ade56f39e758 7_107759886_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 107759886 CA C 900 PASS LAMB4 Del intronic 1 8 MSH6 child 7_107759886_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 44d42724-326d-11e6-9fba-41ebd8b4fa2c 11_26821611_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 26821611 CA C 420 PASS - Del - 1 6 MSH6 child 11_26821611_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 44d741a2-3290-11e6-9432-c0e56f39e758 5_118904696_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 118904696 CT C 540 PASS - Del - 1 7 MSH6 child 5_118904696_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 44d974e0-329f-11e6-8c2e-3f6625c9da85 22_35323627_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 35323627 C CA 360 PASS - Ins - 1 8 MSH6 child 22_35323627_CCA_MSH6 1 1 - - - - Ins 44eb6fe0-32a1-11e6-a04f-c66a25c9da85 6_128291225_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 128291225 TA T 660 PASS PTPRK Del 3prime_UTR_variant 1 8 MSH6 child 6_128291225_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 44f13540-3325-11e6-aa06-7ca120e7b7a8 7_109115136_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 7 109115136 CA C 420 PASS - Del - 1 7 CHK2 child 7_109115136_CAC_CHK2 1 1 1 A 6 A Repeat-mediated 44fb324e-329d-11e6-b129-195325c9da85 16_82959451_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 82959451 C CT 360 PASS CDH13 Ins intronic 1 8 MSH6 child 16_82959451_CCT_MSH6 1 1 - - - - Ins 44fe9ed4-327a-11e6-9e07-80d27d6a9fc7 X_126906444_CCT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA X 126906444 C CT 600 PASS - Ins - 1 5 NEIL1 child X_126906444_CCT_NEIL1 1 1 - - - - Ins 45084fa4-328b-11e6-9035-7296cdacbbbf 2_64746354_TGAGGTTTGAA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 2 64746354 TGAGGT TTGAA 480 PASS RP11-568N6.1 Complex downstream 5 0 FANCC child 2_64746354_TGAGGTTTGAA_FANCC 1 1 - - - - Complex 451400e0-326f-11e6-b5b8-e0c24a47a305 X_22162331_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 22162331 AT A 720 PASS PHEX Del intronic 1 9 MSH6 child X_22162331_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 451c0350-3321-11e6-a14e-43a02aaffa45 19_48044263_GCTCAAATTACG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 19 48044263 GCTCAAATTAC G 540 PASS ZNF541 Del intronic 10 1 CHK2 child 19_48044263_GCTCAAATTACG_CHK2 10 >=10 0 - 0 - None 45231af8-3283-11e6-baa3-81ed1da8ec0e X_7755156_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 7755156 TA T 600 PASS - Del - 1 5 EXO1 child X_7755156_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 45256a28-329d-11e6-a5cf-e5abcc638e3d 9_83894371_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 83894371 AT A 360 PASS - Del - 1 6 MSH6 child 9_83894371_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 452a9c9e-3290-11e6-b52f-4eeb6f39e758 22_49494664_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 49494664 CT C 360 PASS - Del - 1 7 MSH6 child 22_49494664_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 452f06e2-334b-11e6-8b31-52813cfdbd24 7_150205023_ATATTGTTTTCTAGACATAATGCA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 7 150205023 ATATTGTTTTCTAGACATAATGC A 540 PASS - Del - 22 1 FANCC child 7_150205023_ATATTGTTTTCTAGACATAATGCA_FANCC 22 >=10 5 TATTG 0 - Microhomology-mediated 4530add6-3255-11e6-89d3-d29498816cf3 2_188953259_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 188953259 CA C 360 PASS LINC01090 Del intronic 1 8 MSH6 child 2_188953259_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 453182f8-3325-11e6-b456-3b4d07e9a829 8_61690721_GTG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 8 61690721 GT G 480 PASS CHD7 Del intronic 1 7 POLE child 8_61690721_GTG_POLE 1 1 1 T 6 T Repeat-mediated 453dcb6a-3255-11e6-bf41-357a7872c165 10_118890665_AAGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 118890665 AAG A 420 PASS VAX1 Del 3prime_UTR_variant 2 6 MSH6 child 10_118890665_AAGA_MSH6 2 2 2 AG 5 AG Repeat-mediated 453e6466-329c-11e6-a0ea-135325c9da85 15_91319552_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 91319552 TA T 600 PASS BLM Del intronic 1 8 MSH6 child 15_91319552_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 453e8f22-328d-11e6-919e-92c36f39e758 2_118628848_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 118628848 CT C 300 PASS - Del - 1 9 MSH6 child 2_118628848_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 45444c92-3273-11e6-b332-88ba7d6a9fc7 15_62927495_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 62927495 CA C 420 PASS TLN2 Del intronic 1 9 MSH6 child 15_62927495_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4544d098-328e-11e6-bd84-429305ad5bc4 1_53349449_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 53349449 C CT 600 PASS ZYG11A Ins intronic 1 6 MSH6 child 1_53349449_CCT_MSH6 1 1 - - - - Ins 4544e07e-3289-11e6-b805-77090e01a414 2_4726972_TACT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 4726972 TAC T 300 PASS - Del - 2 5 MSH6 child 2_4726972_TACT_MSH6 2 2 2 AC 4 AC Repeat-mediated 45476904-3273-11e6-975f-8246cab49462 16_52103370_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 52103370 TA T 480 PASS C16orf97 Del intronic 1 8 MSH6 child 16_52103370_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 454cbbb0-3283-11e6-aae3-0112f221c733 X_74443877_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA X 74443877 AT A 420 PASS - Del - 1 8 FANCC child X_74443877_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 45514540-326f-11e6-b5b8-e0c24a47a305 X_22364471_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 22364471 AT A 420 PASS RP11-40F8.2 Del intronic 1 9 MSH6 child X_22364471_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 456dd5fc-3292-11e6-ba4d-956e694da5d2 6_73107106_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 6 73107106 AT A 540 PASS RIMS1 Del intronic 1 7 POLM child 6_73107106_ATA_POLM 1 1 1 T 6 T Repeat-mediated 45779cec-3286-11e6-a21c-b819bce6aa09 X_4628138_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 4628138 CA C 420 PASS - Del - 1 9 MSH6 child X_4628138_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 457a9ed6-3288-11e6-b421-691b147bb207 20_16894383_CAC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 20 16894383 CA C 420 PASS - Del - 1 8 NEIL1 parent 20_16894383_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated 457c1514-3255-11e6-89d3-d29498816cf3 2_189061290_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 189061290 GT G 420 PASS LINC01090 Del intronic 1 7 MSH6 child 2_189061290_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 4587add2-3284-11e6-9d58-b7936f39e758 17_33837977_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 17 33837977 AT A 540 PASS SLFN12L Del intronic 1 7 EXO1 child 17_33837977_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 458d831c-3291-11e6-98e0-70dad8b4fa2c 2_18973020_ACTA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 18973020 ACT A 600 PASS AC106053.1 Del downstream 2 1 NUDT1 child 2_18973020_ACTA_NUDT1 2 2 1 C 0 - Microhomology-mediated 45969686-3274-11e6-b8ae-92c57872c165 14_43482956_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 43482956 A AT 540 PASS - Ins - 1 9 MSH6 child 14_43482956_AAT_MSH6 1 1 - - - - Ins 45971680-3286-11e6-90da-f3a469062303 6_164738404_GTGGAGTGCTGCCTCATCAGCCATG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 164738404 GTGGAGTGCTGCCTCATCAGCCAT G 960 PASS - Del - 23 1 FANCC child 6_164738404_GTGGAGTGCTGCCTCATCAGCCATG_FANCC 23 >=10 6 TGGAGT 0 - Microhomology-mediated 45983062-3257-11e6-885f-d1947872c165 4_78932770_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 78932770 CT C 420 PASS - Del - 1 9 MSH6 child 4_78932770_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 45993134-3288-11e6-9e78-7d3e51c54cdd 2_47649861_TTCAGCTGTATGCAATTTAATGCAATATTA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 47649861 T TCAGCTGTATGCAATTTAATGCAATATTA 300 PASS MSH2 Ins intronic 28 0 EXO1 child 2_47649861_TTCAGCTGTATGCAATTTAATGCAATATTA_EXO1 28 >=10 - - - - Ins 459e91ce-3292-11e6-9413-6a7219a91649 5_134538925_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 134538925 AT A 540 PASS C5orf66 Del intronic 1 8 NEIL1 child 5_134538925_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 45a74bfa-3294-11e6-9401-04ed6f39e758 3_103264755_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 103264755 C CA 540 PASS - Ins - 1 9 MSH6 child 3_103264755_CCA_MSH6 1 1 - - - - Ins 45b6bdc4-3294-11e6-92f4-38f3d8b4fa2c 9_73528627_ATA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 9 73528627 AT A 360 PASS TRPM3 Del intronic 1 9 NUDT1 child 9_73528627_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 45bd1b82-329a-11e6-bbf7-b00798ba1142 3_44540650_CTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 3 44540650 CT C 300 PASS ZNF852 Del frameshift 1 1 CHK2 child 3_44540650_CTC_CHK2 1 1 0 - 0 T None 45c10d6a-3294-11e6-babe-a3ac9b6d3b88 21_9576816_TAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 21 9576816 TA T 292 PASS - Del - 1 7 NUDT1 child 21_9576816_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated 45c1fcb6-328f-11e6-8e48-791e0e01a414 8_113709960_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 113709960 TA T 391 PASS CSMD3 Del intronic 1 9 MSH6 child 8_113709960_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 45c3a282-3276-11e6-8fe4-214938e8a824 20_40639082_CTTATGCAAATC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 20 40639082 CTTATGCAAAT C 720 PASS RP5-1121H13.3 Del downstream 10 1 POLM child 20_40639082_CTTATGCAAATC_POLM 10 >=10 2 TT 0 - Microhomology-mediated 45d3e616-3270-11e6-8a6f-43b190e2c2e6 11_91298497_GAG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 11 91298497 GA G 480 PASS - Del - 1 8 POLB child 11_91298497_GAG_POLB 1 1 1 A 7 A Repeat-mediated 45d46304-3278-11e6-a5d7-eb6be7d0bdd7 6_133865087_ACA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 6 133865087 AC A 540 PASS RP11-704J17.5 Del downstream 1 5 EXO1 child 6_133865087_ACA_EXO1 1 1 1 C 4 C Repeat-mediated 45d4b94c-328e-11e6-bfa2-581f0e01a414 7_96447898_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 96447898 AT A 420 PASS - Del - 1 8 MSH6 child 7_96447898_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 45d566e2-3286-11e6-a21c-b819bce6aa09 X_4713805_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 4713805 AT A 300 PASS - Del - 1 9 MSH6 child X_4713805_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 45d5f5a6-3288-11e6-8404-8e1fbce6aa09 8_105766090_GTTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 105766090 GTT G 540 PASS - Del - 2 9 MSH6 child 8_105766090_GTTG_MSH6 2 2 2 TT 7 T Repeat-mediated 45dbb948-326d-11e6-92dd-fda8977b3f23 10_60530095_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 60530095 AT A 780 PASS BICC1 Del intronic 1 6 MSH6 child 10_60530095_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 45ddc94c-328e-11e6-8770-3e160e01a414 9_32063131_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 32063131 C CA 360 PASS - Ins - 1 7 MSH6 child 9_32063131_CCA_MSH6 1 1 - - - - Ins 45e2e54a-328d-11e6-919e-92c36f39e758 2_118881315_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 118881315 AT A 540 PASS - Del - 1 5 MSH6 child 2_118881315_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 45e308e8-328f-11e6-b8a7-a46919a91649 17_57671486_GAGAACAATCTTCTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 17 57671486 GAGAACAATCTTCT G 527 PASS DHX40 Del intronic 13 1 NEIL1 child 17_57671486_GAGAACAATCTTCTG_NEIL1 13 >=10 6 AGAACA 0 - Microhomology-mediated 45e8deba-328c-11e6-bc12-79ae12ae24cf 8_13539971_TTTAGACTTCTTCACAACTCAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 8 13539971 TTTAGACTTCTTCACAACTCA T 360 PASS - Del - 20 1 CHK2 child 8_13539971_TTTAGACTTCTTCACAACTCAT_CHK2 20 >=10 1 T 0 - Microhomology-mediated 45f0e978-3284-11e6-b835-607f2aaffa45 22_50139822_GTG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 22 50139822 GT G 360 PASS - Del - 1 9 POLE child 22_50139822_GTG_POLE 1 1 1 T 8 T Repeat-mediated 45f90968-3285-11e6-97d5-6cf1bbe6aa09 17_67295850_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 67295850 AG A 480 PASS ABCA5 Del intronic 1 6 MSH6 child 17_67295850_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 46068990-328e-11e6-88c1-95c36f39e758 14_90128505_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 90128505 G GA 540 PASS - Ins - 1 4 MSH6 child 14_90128505_GGA_MSH6 1 1 - - - - Ins 460ff352-3277-11e6-9e0f-7959cab49462 7_121560031_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 121560031 GA G 900 PASS PTPRZ1 Del intronic 1 9 MSH6 child 7_121560031_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 461e724e-3275-11e6-b89c-b448aea0a4d2 2_43056614_CAC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 2 43056614 CA C 540 PASS - Del - 1 8 POLM child 2_43056614_CAC_POLM 1 1 1 A 7 A Repeat-mediated 461f842e-3287-11e6-b093-c9c7b0dab373 2_233668818_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 233668818 AT A 480 PASS GIGYF2 Del intronic 1 9 MSH6 child 2_233668818_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 461fcf30-326c-11e6-97dc-a13fee3c4f5d 10_23201335_CCTC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 10 23201335 CCT C 660 PASS - Del - 2 2 POLM parent 10_23201335_CCTC_POLM 2 2 2 CT 1 CT Repeat-mediated 4632cb48-3286-11e6-8b67-086ea2c71c31 1_165833604_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 165833604 GT G 480 PASS UCK2 Del intronic 1 9 MSH6 child 1_165833604_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4636c2f6-328c-11e6-ae53-96c36f39e758 15_58372324_TTTTGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 58372324 TTTTG T 600 PASS ALDH1A2 Del intronic 4 4 MSH6 child 15_58372324_TTTTGT_MSH6 4 4 4 TTTG 3 TTTG Repeat-mediated 463904dc-3271-11e6-8cac-d8617098ee92 10_45010084_TGATTTTTCCCTAAGGCCATGGATTTTCACTGTGCTCATTCATGGAAGAATAGAAAGGGGGAAATTCGGCTTGGTCGGTCCCCATAACTTGGAGTATTAGATGGTTGTAGAGAGCTCGGTTTGATATATAACAGCTGTGACATTGCTGTTACAACTCCACCCATCACCTCAAAATTGCATTAACAAAGTGATGGGATTCAGGACAGAGGAGGCGATAGCTCAAATCATGCACTTGAGGAGGATACGGATCCACTGGAATGTTATCTAAGAGAGTGGCCAGGATTGGTCAAGGGACTAAACATCATGTCAAATGAGTTCTGAGTGACAAACTGACAGATGGAACCAACCAACCAACAAACCAACCCCCGAAACTAGAGATCCATGAAAGTGGTGGTGGGAGTTTACTTATATAATTTTGTTTTAACTTGGCTAGGGAATGTGGGATCCTGGTAGCTGCATGAATGTGGAAGAGAGAGGAGACGTCTGCGGTGAGGACTGATTGTGTGGAATTAGGATCACTGAGTGGAGGCTACAGAGAAACTGCTGAACACGAAGAGCATTCCAAGGACATCACTGCCTGTGGGCGGCATCATCAGCTTAGATAAGTGGTAGGCCCCCGGCACTGCAAGTATTGGAGGGTAAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 10 45010084 TGATTTTTCCCTAAGGCCATGGATTTTCACTGTGCTCATTCATGGAAGAATAGAAAGGGGGAAATTCGGCTTGGTCGGTCCCCATAACTTGGAGTATTAGATGGTTGTAGAGAGCTCGGTTTGATATATAACAGCTGTGACATTGCTGTTACAACTCCACCCATCACCTCAAAATTGCATTAACAAAGTGATGGGATTCAGGACAGAGGAGGCGATAGCTCAAATCATGCACTTGAGGAGGATACGGATCCACTGGAATGTTATCTAAGAGAGTGGCCAGGATTGGTCAAGGGACTAAACATCATGTCAAATGAGTTCTGAGTGACAAACTGACAGATGGAACCAACCAACCAACAAACCAACCCCCGAAACTAGAGATCCATGAAAGTGGTGGTGGGAGTTTACTTATATAATTTTGTTTTAACTTGGCTAGGGAATGTGGGATCCTGGTAGCTGCATGAATGTGGAAGAGAGAGGAGACGTCTGCGGTGAGGACTGATTGTGTGGAATTAGGATCACTGAGTGGAGGCTACAGAGAAACTGCTGAACACGAAGAGCATTCCAAGGACATCACTGCCTGTGGGCGGCATCATCAGCTTAGATAAGTGGTAGGCCCCCGGCACTGCAAGTATTGGAGGGTAA T 300 PASS - Del - 641 1 FANCC child 10_45010084_TGATTTTTCCCTAAGGCCATGGATTTTCACTGTGCTCATTCATGGAAGAATAGAAAGGGGGAAATTCGGCTTGGTCGGTCCCCATAACTTGGAGTATTAGATGGTTGTAGAGAGCTCGGTTTGATATATAACAGCTGTGACATTGCTGTTACAACTCCACCCATCACCTCAAAATTGCATTAACAAAGTGATGGGATTCAGGACAGAGGAGGCGATAGCTCAAATCATGCACTTGAGGAGGATACGGATCCACTGGAATGTTATCTAAGAGAGTGGCCAGGATTGGTCAAGGGACTAAACATCATGTCAAATGAGTTCTGAGTGACAAACTGACAGATGGAACCAACCAACCAACAAACCAACCCCCGAAACTAGAGATCCATGAAAGTGGTGGTGGGAGTTTACTTATATAATTTTGTTTTAACTTGGCTAGGGAATGTGGGATCCTGGTAGCTGCATGAATGTGGAAGAGAGAGGAGACGTCTGCGGTGAGGACTGATTGTGTGGAATTAGGATCACTGAGTGGAGGCTACAGAGAAACTGCTGAACACGAAGAGCATTCCAAGGACATCACTGCCTGTGGGCGGCATCATCAGCTTAGATAAGTGGTAGGCCCCCGGCACTGCAAGTATTGGAGGGTAAT_FANCC 641 >=10 1 G 0 - Microhomology-mediated 4645d4b2-3278-11e6-b7b5-ce91a78019ab 5_124062596_CAC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 124062596 CA C 780 PASS ZNF608 Del intronic 1 9 NEIL1 child 5_124062596_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 4653177a-328d-11e6-a2cb-f3ac12ae24cf 5_132257084_ACTA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 5 132257084 ACT A 300 PASS AFF4 Del intronic 2 2 CHK2 child 5_132257084_ACTA_CHK2 2 2 2 CT 1 CT Repeat-mediated 46587290-3271-11e6-b446-b5c7c6271a47 13_103612510_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 13 103612510 AT A 480 PASS - Del - 1 9 POLB child 13_103612510_ATA_POLB 1 1 1 T 8 T Repeat-mediated 46605f70-328d-11e6-b9c4-751d0e01a414 5_65338141_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 65338141 AT A 420 PASS ERBB2IP Del intronic 1 6 MSH6 child 5_65338141_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 46619062-3273-11e6-975f-8246cab49462 16_52466498_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 52466498 GA G 840 PASS - Del - 1 6 MSH6 child 16_52466498_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 4673a8e2-328c-11e6-8952-77c36f39e758 10_45694204_GTTCCCGCCCTCCTGCAGCTGGGGACCCACCCCTGACTTAGAATCCCTGGACGCTTCTGGCCCAGGGATCCGCGCTGCTGGTGGCGCTGACAGGGTCCGGGTTGGAGCCCCTGCTGCCGCGTGCCATGTTCAGATGAGAGCTGCACCTGAGTCCACGGTGGAGGCTGCAGGGCTGGGCCCAGACCGCTGAGGGTCGTCGAGTGAACCGCCCTACCACCCTGGGCTCTGCTCTTTCTTGGCCGGCGCTGGCAGCTCAGGCTCACGACCTCTGAGCCCCGTACAGCTGCCGAGATGAGGCACTGAGGCAGAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 45694204 GTTCCCGCCCTCCTGCAGCTGGGGACCCACCCCTGACTTAGAATCCCTGGACGCTTCTGGCCCAGGGATCCGCGCTGCTGGTGGCGCTGACAGGGTCCGGGTTGGAGCCCCTGCTGCCGCGTGCCATGTTCAGATGAGAGCTGCACCTGAGTCCACGGTGGAGGCTGCAGGGCTGGGCCCAGACCGCTGAGGGTCGTCGAGTGAACCGCCCTACCACCCTGGGCTCTGCTCTTTCTTGGCCGGCGCTGGCAGCTCAGGCTCACGACCTCTGAGCCCCGTACAGCTGCCGAGATGAGGCACTGAGGCAGA G 360 PASS - Del - 308 1 MSH6 child 10_45694204_GTTCCCGCCCTCCTGCAGCTGGGGACCCACCCCTGACTTAGAATCCCTGGACGCTTCTGGCCCAGGGATCCGCGCTGCTGGTGGCGCTGACAGGGTCCGGGTTGGAGCCCCTGCTGCCGCGTGCCATGTTCAGATGAGAGCTGCACCTGAGTCCACGGTGGAGGCTGCAGGGCTGGGCCCAGACCGCTGAGGGTCGTCGAGTGAACCGCCCTACCACCCTGGGCTCTGCTCTTTCTTGGCCGGCGCTGGCAGCTCAGGCTCACGACCTCTGAGCCCCGTACAGCTGCCGAGATGAGGCACTGAGGCAGAG_MSH6 308 >=10 20 TTCCCGCCCTCCTGCAGCTG 0 - Microhomology-mediated 468bedf4-326d-11e6-92dd-fda8977b3f23 10_60770252_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 60770252 CT C 660 PASS - Del - 1 9 MSH6 child 10_60770252_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 469c6e74-328e-11e6-bec1-ca1d0e01a414 X_82641761_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 82641761 GA G 360 PASS - Del - 1 9 MSH6 child X_82641761_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 469fbdcc-3289-11e6-b805-77090e01a414 2_4950870_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 4950870 TA T 300 PASS - Del - 1 6 MSH6 child 2_4950870_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 46a031d8-3281-11e6-86cf-8f288e4678dd 10_72053745_TAGT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 72053745 TAG T 300 PASS LRRC20 Del downstream 2 2 FANCC child 10_72053745_TAGT_FANCC 2 2 2 AG 1 AG Repeat-mediated 46a04858-329a-11e6-8d0f-075325c9da85 14_44423217_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 44423217 CT C 720 PASS - Del - 1 8 MSH6 child 14_44423217_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 46a989e2-3257-11e6-885f-d1947872c165 4_79222667_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 79222667 TG T 414 PASS FRAS1 Del intronic 1 6 MSH6 child 4_79222667_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 46b1f39a-329b-11e6-8d0f-075325c9da85 14_100393529_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 100393529 CA C 600 PASS EML1 Del intronic 1 8 MSH6 child 14_100393529_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 46b95804-3270-11e6-9c6e-9f402a2d4995 2_120352986_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 2 120352986 AT A 360 PASS PCDP1 Del intronic 1 8 POLB child 2_120352986_ATA_POLB 1 1 1 T 7 T Repeat-mediated 46be9d12-326d-11e6-9003-ae204b47a305 19_34721782_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 34721782 TG T 360 PASS LSM14A Del downstream 1 5 MSH6 child 19_34721782_TGT_MSH6 1 1 1 G 4 G Repeat-mediated 46bf1d00-329a-11e6-9ac0-f00198ba1142 5_141337337_ACCTA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 5 141337337 ACCT A 300 PASS PCDH12 Del inframe 3 2 CHK2 child 5_141337337_ACCTA_CHK2 3 3 3 CCT 1 CCT Repeat-mediated 46c9c5de-3286-11e6-a0a8-096ea2c71c31 11_40533596_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 40533596 G GA 300 PASS LRRC4C Ins intronic 1 7 MSH6 child 11_40533596_GGA_MSH6 1 1 - - - - Ins 46cce456-328d-11e6-bd84-429305ad5bc4 1_234603701_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 234603701 AT A 420 PASS TARBP1 Del intronic 1 6 MSH6 child 1_234603701_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 46ce8f1a-3281-11e6-b258-8ade028949d4 10_121221085_CAGGC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 10 121221085 CAGG C 300 PASS - Del - 3 1 POLM child 10_121221085_CAGGC_POLM 3 3 2 AG 0 - Microhomology-mediated 46d4c076-3293-11e6-94ac-06337a852e0e 4_75082103_AAGTA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 4 75082103 AAGT A 540 PASS MTHFD2L Del intronic 3 1 CHK2 child 4_75082103_AAGTA_CHK2 3 3 2 AG 0 - Microhomology-mediated 46e1e790-3286-11e6-b1ba-6def1da8ec0e 1_193133777_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 193133777 TA T 960 PASS CDC73 Del intronic 1 8 EXO1 child 1_193133777_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 46e7582c-328d-11e6-8952-77c36f39e758 10_113945089_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 113945089 GA G 780 PASS GPAM Del upstream 1 9 MSH6 child 10_113945089_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 46eeec1e-3278-11e6-a9f5-080542c4520d 15_99291663_CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 15 99291663 C CAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT 420 PASS IGF1R Ins intronic 52 0 POLM child 15_99291663_CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT_POLM 52 >=10 - - - - Ins 46f35ab2-328a-11e6-8ab8-e6b2cc638e3d 16_82232340_GAG . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 16 82232340 GA G 540 PASS - Del - 1 2 NUDT1 child 16_82232340_GAG_NUDT1 1 1 1 A 1 A Repeat-mediated 46fc8892-329b-11e6-b129-195325c9da85 16_67454385_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 67454385 GT G 300 PASS ZDHHC1 Del upstream 1 8 MSH6 child 16_67454385_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 47085fc0-328f-11e6-8f31-bfe16f39e758 9_113801020_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 113801020 TG T 300 PASS LPAR1 Del upstream 1 6 MSH6 child 9_113801020_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 47099240-3272-11e6-8b9c-cffdd8b4fa2c 11_83597205_TAAAGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 11 83597205 TAAAG T 532 PASS DLG2 Del intronic 4 1 MSH6 parent 11_83597205_TAAAGT_MSH6 4 4 1 A 0 - Microhomology-mediated 47215792-3275-11e6-998e-ba48fa52e078 8_17753940_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 17753940 GA G 720 PASS FGL1 Del intronic 1 9 MSH6 child 8_17753940_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4722a784-328c-11e6-bd84-429305ad5bc4 1_95296182_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 95296182 TA T 900 PASS SLC44A3 Del intronic 1 9 MSH6 child 1_95296182_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4724c074-329f-11e6-94ca-0aaecc638e3d X_109945145_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 109945145 TA T 420 PASS CHRDL1 Del intronic 1 5 MSH6 child X_109945145_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 4749ec74-3285-11e6-94be-6cfa4430f757 12_109802569_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 109802569 AT A 780 PASS MYO1H Del intronic 1 9 EXO1 child 12_109802569_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 474a3462-327c-11e6-9c48-f7da5d753391 21_14417551_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 21 14417551 CA C 410 PASS RNU6-614P Del upstream 1 7 FANCC parent 21_14417551_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 47551b6e-328d-11e6-b8e6-91c36f39e758 11_116378268_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 116378268 CA C 540 PASS - Del - 1 7 MSH6 child 11_116378268_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 475a8a92-3295-11e6-9985-7c540d016689 6_52445446_ATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 52445446 AT A 360 PASS TRAM2 Del upstream 1 6 NUDT1 child 6_52445446_ATA_NUDT1 1 1 1 T 5 T Repeat-mediated 476330b4-326f-11e6-93e2-b755671699ea 12_18119622_TCT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 12 18119622 TC T 480 PASS - Del - 1 1 EXO1 parent 12_18119622_TCT_EXO1 1 1 0 - 0 C None 476a3794-3295-11e6-b04a-0c16b968caf4 4_100416459_CAC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 4 100416459 CA C 511 PASS - Del - 1 6 POLB child 4_100416459_CAC_POLB 1 1 1 A 5 A Repeat-mediated 47709e74-3324-11e6-ad87-aefe97ba1142 10_74579500_TTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 10 74579500 T TG 300 PASS MCU Ins intronic 1 1 EXO1 child 10_74579500_TTG_EXO1 1 1 - - - - Ins 47768ebc-3291-11e6-98e0-70dad8b4fa2c 2_19583050_ATGA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 19583050 ATG A 300 PASS - Del - 2 1 NUDT1 child 2_19583050_ATGA_NUDT1 2 2 1 T 0 - Microhomology-mediated 477838b0-3279-11e6-9dfe-7ec135761512 1_47590716_TAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 1 47590716 TA T 440 PASS CYP4A22-AS1 Del intronic 1 8 FANCC parent 1_47590716_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 477b5f98-328f-11e6-bfa2-581f0e01a414 7_153938654_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 153938654 CA C 720 PASS DPP6 Del intronic 1 8 MSH6 child 7_153938654_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 477f30c6-3282-11e6-b933-8181c042253c 10_54554429_ATA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 10 54554429 AT A 600 PASS - Del - 1 9 FANCC child 10_54554429_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 4784ad8e-326f-11e6-b306-b5204b47a305 2_234273676_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 234273676 GA G 420 PASS DGKD Del intronic 1 5 MSH6 child 2_234273676_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 478cac8e-3254-11e6-a4a7-35f212ae24cf 14_66514947_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 66514947 AT A 360 PASS - Del - 1 9 MSH6 child 14_66514947_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 478ce508-3283-11e6-bc59-aceb1f4bbf9c 8_38486295_CTCTGGCTTCTGC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 8 38486295 CTCTGGCTTCTG C 300 PASS - Del - 11 1 EXO1 child 8_38486295_CTCTGGCTTCTGC_EXO1 11 >=10 3 TCT 0 - Microhomology-mediated 4794f0b2-3275-11e6-998e-ba48fa52e078 8_17885384_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 17885384 TC T 420 PASS PCM1 Del 3prime_UTR_variant 1 5 MSH6 child 8_17885384_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 47957d82-3286-11e6-b0bc-c7a46f39e758 5_15007931_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 5 15007931 AT A 300 PASS - Del - 1 7 EXO1 child 5_15007931_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 4795bdd4-328a-11e6-b9eb-c78fa2c71c31 6_57917903_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 57917903 C CT 528 PASS - Ins - 1 1 MSH6 child 6_57917903_CCT_MSH6 1 1 - - - - Ins 47a0b61a-3273-11e6-81c8-19f506e9a829 2_172905516_TACT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 172905516 TAC T 300 PASS METAP1D Del intronic 2 1 FANCC child 2_172905516_TACT_FANCC 2 2 1 A 0 - Microhomology-mediated 47a2b416-3286-11e6-b32c-fd87a2c71c31 5_3153910_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 3153910 AT A 420 PASS - Del - 1 5 MSH6 child 5_3153910_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 47ac59ca-328c-11e6-b8ba-0ad9191589db 8_13157610_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 8 13157610 CA C 360 PASS DLC1 Del intronic 1 7 FANCC child 8_13157610_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 47ac6e14-329c-11e6-a5cf-e5abcc638e3d 9_3159811_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 3159811 CT C 960 PASS - Del - 1 5 MSH6 child 9_3159811_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 47ae2452-3292-11e6-ba8c-277819a91649 6_24755364_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 6 24755364 TA T 300 PASS RP3-369A17.4 Del downstream 1 9 NEIL1 child 6_24755364_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 47be9bfe-327c-11e6-8fd7-46dab41afd22 15_65282558_TTGTATACTCT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 15 65282558 TTGTATACTC T 600 PASS SPG21 Del upstream 9 1 POLM child 15_65282558_TTGTATACTCT_POLM 9 9 1 T 0 - Microhomology-mediated 47c77a80-329a-11e6-a5cf-205325c9da85 11_25869548_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 25869548 TA T 600 PASS - Del - 1 8 MSH6 child 11_25869548_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 47e31074-3272-11e6-be56-9cdfd7fd0a58 4_45515389_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 4 45515389 AT A 420 PASS - Del - 1 9 NUDT1 child 4_45515389_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 47f5833a-3290-11e6-9483-bc0c9c6d3b88 5_59412500_GAG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 5 59412500 GA G 420 PASS PDE4D Del intronic 1 9 POLB child 5_59412500_GAG_POLB 1 1 1 A 8 A Repeat-mediated 47fd8f98-326e-11e6-acc7-e55219a91649 1_156693334_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 156693334 TC T 420 PASS ISG20L2 Del intronic 1 5 MSH6 child 1_156693334_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 47febee0-328c-11e6-bd84-429305ad5bc4 1_95632463_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 95632463 AT A 720 PASS TMEM56 Del intronic 1 8 MSH6 child 1_95632463_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 480178d8-3282-11e6-a00d-62c6cde16804 13_63595811_GGA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 13 63595811 G GA 300 PASS - Ins - 1 8 NUDT1 child 13_63595811_GGA_NUDT1 1 1 - - - - Ins 4801e352-328e-11e6-bec1-ca1d0e01a414 X_83205316_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 83205316 CA C 420 PASS - Del - 1 8 MSH6 child X_83205316_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 480ec20a-328b-11e6-9c89-8d090e01a414 1_114160655_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 114160655 CT C 480 PASS MAGI3 Del intronic 1 7 MSH6 child 1_114160655_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 48153832-32a0-11e6-a04f-c66a25c9da85 6_62759227_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 62759227 CA C 660 PASS KHDRBS2 Del intronic 1 9 MSH6 child 6_62759227_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4821133c-326e-11e6-9f48-94df41c4520d 12_128229336_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 128229336 GT G 300 PASS - Del - 1 9 MSH6 child 12_128229336_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 48298cca-3272-11e6-9850-b83e75253f64 12_96224663_GAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 96224663 GA G 540 PASS - Del - 1 9 FANCC child 12_96224663_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 4829a84e-328c-11e6-9c89-8d090e01a414 1_179252934_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 179252934 GA G 360 PASS - Del - 1 8 MSH6 child 1_179252934_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 482c7b00-3287-11e6-9766-8c8ca2c71c31 22_22142399_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 22142399 AG A 540 PASS MAPK1 Del intronic 1 5 MSH6 child 22_22142399_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 4832c080-329d-11e6-a5cf-e5abcc638e3d 9_84472520_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 84472520 AT A 900 PASS - Del - 1 9 MSH6 child 9_84472520_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 48372884-328c-11e6-8256-94c36f39e758 17_37767679_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 37767679 CT C 720 PASS NEUROD2 Del upstream 1 8 MSH6 child 17_37767679_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 483b20a8-3285-11e6-a1ac-fd6da2c71c31 13_100279851_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 100279851 AT A 480 PASS CLYBL Del intronic 1 8 MSH6 child 13_100279851_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4844d550-328d-11e6-bd84-429305ad5bc4 1_235338129_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 235338129 CA C 420 PASS ARID4B Del intronic 1 9 MSH6 child 1_235338129_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 484776b6-326f-11e6-8f14-87641565c797 19_37426827_CTC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 19 37426827 CT C 300 PASS ZNF568 Del intronic 1 8 POLM child 19_37426827_CTC_POLM 1 1 1 T 7 T Repeat-mediated 48497dbc-3283-11e6-8a7a-74ed1f4bbf9c 7_46292086_CTGAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 7 46292086 CTGA C 540 PASS - Del - 3 2 EXO1 child 7_46292086_CTGAC_EXO1 3 3 3 TGA 1 TGA Repeat-mediated 484cdaf6-327f-11e6-9176-77c54dc77248 5_137898717_CAGGC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 5 137898717 CAGG C 720 PASS HSPA9 Del intronic 3 1 NUDT1 child 5_137898717_CAGGC_NUDT1 3 3 2 AG 0 - Microhomology-mediated 484d284e-3289-11e6-8404-8e1fbce6aa09 8_48817759_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 48817759 A AT 420 PASS PRKDC Ins intronic 1 9 MSH6 child 8_48817759_AAT_MSH6 1 1 - - - - Ins 485b6318-3285-11e6-a0a8-096ea2c71c31 11_82670487_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 82670487 TA T 540 PASS C11orf82 Del downstream 1 8 MSH6 child 11_82670487_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4864d8fe-3289-11e6-9c89-8d090e01a414 1_4675715_CGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 4675715 CG C 420 PASS - Del - 1 6 MSH6 child 1_4675715_CGC_MSH6 1 1 1 G 5 G Repeat-mediated 486717ea-3284-11e6-8312-b09438e8a824 9_10856366_TTA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 9 10856366 T TA 300 PASS - Ins - 1 6 POLE parent 9_10856366_TTA_POLE 1 1 - - - - Ins 48696542-3273-11e6-8f33-a6d9cde16804 11_79457143_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 79457143 TA T 360 PASS - Del - 1 9 MSH6 child 11_79457143_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 48698958-328e-11e6-9230-fb250e01a414 3_26053088_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 26053088 CT C 540 PASS - Del - 1 8 MSH6 child 3_26053088_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 486ff232-3254-11e6-b4d0-327a7872c165 11_49238180_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 49238180 TA T 526 PASS - Del - 1 7 MSH6 child 11_49238180_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 48719310-3274-11e6-8c58-fa31b51afd22 8_17013841_AGCCCGCGAGGTGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 8 17013841 AGCCCGCGAGGTG A 420 PASS ZDHHC2 Del 5prime_UTR_variant 12 1 FANCC child 8_17013841_AGCCCGCGAGGTGA_FANCC 12 >=10 5 GCCCG 0 - Microhomology-mediated 4873ac7e-3277-11e6-92d2-c259c225ee11 3_66923654_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 66923654 AG A 660 PASS - Del - 1 1 MSH6 child 3_66923654_AGA_MSH6 1 1 0 - 0 G None 4886536c-328e-11e6-bec1-ca1d0e01a414 X_83462693_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 83462693 CT C 540 PASS - Del - 1 8 MSH6 child X_83462693_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4886ff32-3258-11e6-91d3-a68412ae24cf 7_136383340_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 136383340 CT C 420 PASS - Del - 1 7 MSH6 child 7_136383340_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 488cc9b8-3284-11e6-b1ba-6def1da8ec0e 1_33788299_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 33788299 AT A 288 PASS PHC2 Del downstream 1 6 EXO1 child 1_33788299_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 488d8ffc-3256-11e6-99c2-78832aaffa45 1_163452992_TATCT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 1 163452992 TATC T 780 PASS - Del - 3 1 POLM child 1_163452992_TATCT_POLM 3 3 2 AT 0 - Microhomology-mediated 488e2360-3277-11e6-8b89-96b6ecf1e924 5_63190898_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 5 63190898 AT A 600 PASS - Del - 1 9 CHK2 child 5_63190898_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 48908bca-3270-11e6-b306-b5204b47a305 2_63250437_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 63250437 A AT 360 PASS EHBP1 Ins intronic 1 5 MSH6 child 2_63250437_AAT_MSH6 1 1 - - - - Ins 4895c24a-32a0-11e6-aea7-956725c9da85 3_121733614_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 121733614 AT A 480 PASS ILDR1 Del intronic 1 9 MSH6 child 3_121733614_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 48ba9cb6-3258-11e6-9d15-298312ae24cf X_117878253_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 117878253 TA T 480 PASS IL13RA1 Del intronic 1 9 MSH6 child X_117878253_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 48c812c8-328b-11e6-b805-77090e01a414 2_135414139_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 135414139 TC T 300 PASS TMEM163 Del intronic 1 6 MSH6 child 2_135414139_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 48cb3852-3274-11e6-b332-88ba7d6a9fc7 15_81933060_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 81933060 CA C 420 PASS CTD-2034I4.1 Del intronic 1 8 MSH6 child 15_81933060_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 48d0a786-3285-11e6-99f7-076ea2c71c31 12_77563139_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 77563139 AT A 540 PASS - Del - 1 8 MSH6 child 12_77563139_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 48d26290-327d-11e6-bd4a-308890e2c2e6 3_32692167_TACT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 3 32692167 TAC T 900 PASS - Del - 2 1 FANCC parent 3_32692167_TACT_FANCC 2 2 1 A 0 - Microhomology-mediated 48d81822-328f-11e6-9d24-ade56f39e758 7_48213899_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 48213899 CT C 360 PASS ABCA13 Del intronic 1 9 MSH6 child 7_48213899_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 48e02b98-3271-11e6-a721-59c27872c165 5_45813_CCAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 5 45813 CCA C 780 PASS - Del - 2 6 NEIL1 child 5_45813_CCAC_NEIL1 2 2 2 CA 5 CA Repeat-mediated 48e075b6-3259-11e6-aa0b-72f912ae24cf 8_111545663_TTA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 111545663 T TA 360 PASS - Ins - 1 5 POLB child 8_111545663_TTA_POLB 1 1 - - - - Ins 48ed3ab8-3285-11e6-a1ac-fd6da2c71c31 13_100482361_ATCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 100482361 ATC A 600 PASS CLYBL Del intronic 2 5 MSH6 child 13_100482361_ATCA_MSH6 2 2 2 TC 4 TC Repeat-mediated 48f415d0-3321-11e6-be49-204207e9a829 1_32817783_CCTC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 1 32817783 CCT C 300 PASS RP4-811H24.9 Del upstream 2 3 POLE child 1_32817783_CCTC_POLE 2 2 2 CT 2 CT Repeat-mediated 48f7b0ca-3275-11e6-998e-ba48fa52e078 8_18346724_GGAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 18346724 GGA G 360 PASS - Del - 2 4 MSH6 child 8_18346724_GGAG_MSH6 2 2 2 GA 3 GA Repeat-mediated 48f9fdb8-3292-11e6-9432-c0e56f39e758 5_81363167_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 81363167 T TA 720 PASS ATG10 Ins intronic 1 2 MSH6 child 5_81363167_TTA_MSH6 1 1 - - - - Ins 48fda3ee-3271-11e6-b89d-b2d6b0dab373 4_122267946_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 122267946 AT A 300 PASS QRFPR Del intronic 1 7 MSH6 child 4_122267946_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 4904e870-328f-11e6-9d24-ade56f39e758 7_48297998_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 48297998 TA T 480 PASS ABCA13 Del intronic 1 9 MSH6 child 7_48297998_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 49081bf6-3291-11e6-b81f-4ee66f39e758 8_107927893_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 107927893 CT C 480 PASS - Del - 1 6 MSH6 child 8_107927893_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 490b8afc-328c-11e6-bd84-429305ad5bc4 1_96340141_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 96340141 TA T 720 PASS - Del - 1 9 MSH6 child 1_96340141_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 490d4c76-3272-11e6-9065-cc4890e2c2e6 1_81945171_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 81945171 TA T 660 PASS LPHN2 Del intronic 1 9 MSH6 parent 1_81945171_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 49136a4a-3270-11e6-a539-0e5542c4520d 7_94064053_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 94064053 GA G 360 PASS COL1A2 Del downstream 1 8 MSH6 child 7_94064053_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4922b8f2-329c-11e6-ae71-0c5325c9da85 1_145633535_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 145633535 CT C 951 PASS RNF115 Del intronic 1 9 MSH6 child 1_145633535_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 49271588-3287-11e6-a284-4b89a2c71c31 4_66433646_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 66433646 AT A 600 PASS EPHA5 Del intronic 1 9 MSH6 child 4_66433646_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 492c7690-329b-11e6-b129-195325c9da85 16_67838479_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 67838479 AT A 540 PASS RANBP10 Del intronic 1 9 MSH6 child 16_67838479_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4932ab30-328e-11e6-bc33-715238e8a824 2_50125239_AAAGA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 2 50125239 AAAG A 300 PASS - Del - 3 2 FANCC child 2_50125239_AAAGA_FANCC 3 3 3 AAG 1 AAG Repeat-mediated 49336e4e-3289-11e6-821d-8c090e01a414 13_22025974_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 22025974 CA C 660 PASS ZDHHC20 Del intronic 1 9 MSH6 child 13_22025974_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 49343962-326d-11e6-b306-b5204b47a305 2_57752027_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 57752027 CT C 480 PASS - Del - 1 8 MSH6 child 2_57752027_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 493b301a-3271-11e6-9260-549ffa52e078 11_65878707_TAT . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 11 65878707 TA T 1320 PASS PACS1 Del intronic 1 6 POLB child 11_65878707_TAT_POLB 1 1 1 A 5 A Repeat-mediated 493bfda4-3255-11e6-89d3-d29498816cf3 2_190878417_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 190878417 AT A 420 PASS - Del - 1 8 MSH6 child 2_190878417_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 49411330-329f-11e6-94ca-0aaecc638e3d X_110993836_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 110993836 AT A 660 PASS ALG13 Del intronic 1 7 MSH6 child X_110993836_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 49432aa2-3291-11e6-9a6c-80dad8b4fa2c 18_14702378_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 18 14702378 GA G 540 PASS - Del - 1 8 NUDT1 child 18_14702378_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated 494630ee-32a0-11e6-aea7-956725c9da85 3_121886221_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 121886221 GT G 840 PASS - Del - 1 1 MSH6 child 3_121886221_GTG_MSH6 1 1 0 - 0 T None 494affd0-329a-11e6-b74d-b59fcc638e3d 18_30353166_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 30353166 GC G 540 PASS KLHL14 Del upstream 1 7 MSH6 child 18_30353166_GCG_MSH6 1 1 1 C 6 C Repeat-mediated 49558390-3283-11e6-9f9b-29bd9b6d3b88 11_82983289_TTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 82983289 T TA 720 PASS CCDC90B Ins intronic 1 7 EXO1 child 11_82983289_TTA_EXO1 1 1 - - - - Ins 495f817c-3276-11e6-8fe4-214938e8a824 20_42152127_CAGTGATCCCTCCAGC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 20 42152127 CAGTGATCCCTCCAG C 480 PASS L3MBTL1 Del intronic 14 1 POLM child 20_42152127_CAGTGATCCCTCCAGC_POLM 14 >=10 2 AG 0 - Microhomology-mediated 496477e0-3271-11e6-b89d-b2d6b0dab373 4_122391736_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 122391736 CA C 300 PASS - Del - 1 8 MSH6 child 4_122391736_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4965ec3c-329a-11e6-aca6-b39fcc638e3d 2_35432443_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 35432443 GA G 780 PASS - Del - 1 8 MSH6 child 2_35432443_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 49680396-328b-11e6-b1ec-44eaf6dffcf6 20_8598475_GGA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 20 8598475 G GA 900 PASS PLCB1 Ins intronic 1 6 NUDT1 parent 20_8598475_GGA_NUDT1 1 1 - - - - Ins 496a94fe-328a-11e6-b74f-549ba2c71c31 20_46817387_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 46817387 GT G 360 PASS - Del - 1 4 MSH6 child 20_46817387_GTG_MSH6 1 1 1 T 3 T Repeat-mediated 497521ce-327d-11e6-b1df-d11c0e01a414 7_78874555_GAG . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 7 78874555 GA G 600 PASS MAGI2 Del intronic 1 7 FANCC parent 7_78874555_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 498811aa-3285-11e6-821e-69f1bbe6aa09 16_78900867_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 78900867 CA C 300 PASS WWOX Del intronic 1 3 MSH6 child 16_78900867_CAC_MSH6 1 1 1 A 2 A Repeat-mediated 498fbf90-328f-11e6-8e48-791e0e01a414 8_115053108_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 115053108 GA G 540 PASS - Del - 1 9 MSH6 child 8_115053108_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 49905ab8-3276-11e6-b96a-e20a1ea8ec0e 7_138532893_GAATG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 7 138532893 GAAT G 420 PASS KIAA1549 Del intronic 3 2 FANCC child 7_138532893_GAATG_FANCC 3 3 3 AAT 1 AAT Repeat-mediated 49a30a9a-3290-11e6-8e48-791e0e01a414 8_22765537_AAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 22765537 A AG 300 PASS PEBP4 Ins intronic 1 1 MSH6 child 8_22765537_AAG_MSH6 1 1 - - - - Ins 49a96400-328e-11e6-b3cd-1ca5e7d0bdd7 17_50403715_CAGCAAGTCTCTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 17 50403715 CAGCAAGTCTCT C 600 PASS - Del - 11 1 FANCC child 17_50403715_CAGCAAGTCTCTC_FANCC 11 >=10 4 AGCA 0 - Microhomology-mediated 49b3782c-3276-11e6-9e0f-7959cab49462 7_57020288_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 57020288 TG T 295 PASS MIR4283-2 Del downstream 1 1 MSH6 child 7_57020288_TGT_MSH6 1 1 0 - 0 G None 49b804ba-328e-11e6-b6a6-1f1e0e01a414 4_114948012_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 114948012 AT A 600 PASS - Del - 1 9 MSH6 child 4_114948012_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 49c30476-3272-11e6-9fba-41ebd8b4fa2c 11_80765551_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 80765551 A AT 300 PASS - Ins - 1 7 MSH6 child 11_80765551_AAT_MSH6 1 1 - - - - Ins 49cb56e8-328c-11e6-b4fe-93c36f39e758 12_48657443_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 48657443 TA T 420 PASS RP11-370I10.2 Del intronic 1 7 MSH6 child 12_48657443_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 49cf9e3c-326f-11e6-a539-0e5542c4520d 7_17899455_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 17899455 CT C 300 PASS SNX13 Del intronic 1 8 MSH6 child 7_17899455_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 49dd732c-325b-11e6-a39a-dc8512ae24cf 8_88887269_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 88887269 A AT 300 PASS DCAF4L2 Ins upstream 1 5 MSH6 child 8_88887269_AAT_MSH6 1 1 - - - - Ins 49e2767c-3320-11e6-9320-f78420e7b7a8 16_1737318_GTCG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 16 1737318 GTC G 360 PASS HN1L Del intronic 2 1 CHK2 child 16_1737318_GTCG_CHK2 2 2 1 T 0 - Microhomology-mediated 49e6f24a-3287-11e6-a284-4b89a2c71c31 4_66725930_GTAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 66725930 GTA G 420 PASS RP11-51P8.1 Del downstream 2 5 MSH6 child 4_66725930_GTAG_MSH6 2 2 2 TA 4 TA Repeat-mediated 49f2c02c-3285-11e6-99eb-713e51c54cdd 16_82705465_AAAGA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 16 82705465 AAAG A 480 PASS CDH13 Del intronic 3 1 EXO1 child 16_82705465_AAAGA_EXO1 3 3 2 AA 0 - Microhomology-mediated 49f435f4-3273-11e6-89f6-200f6323ba5a 7_101266121_TCT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 7 101266121 TC T 360 PASS MYL10 Del intronic 1 7 POLB child 7_101266121_TCT_POLB 1 1 1 C 6 C Repeat-mediated 49f5c8d2-3323-11e6-9b94-35fee9d19ece 9_32893894_TGT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 9 32893894 TG T 460 PASS - Del - 1 4 POLE child 9_32893894_TGT_POLE 1 1 1 G 3 G Repeat-mediated 4a014878-327a-11e6-92d2-c259c225ee11 3_81083305_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 81083305 G GT 300 PASS RP11-6B4.1 Ins intronic 1 6 MSH6 child 3_81083305_GGT_MSH6 1 1 - - - - Ins 4a0c0486-3291-11e6-9401-04ed6f39e758 3_89217535_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 89217535 AT A 360 PASS EPHA3 Del intronic 1 6 MSH6 child 3_89217535_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 4a130430-3286-11e6-b32c-fd87a2c71c31 5_4364579_ATGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 4364579 ATG A 720 PASS - Del - 2 6 MSH6 child 5_4364579_ATGA_MSH6 2 2 2 TG 5 TG Repeat-mediated 4a20d970-3277-11e6-a71d-236235cec73b X_100827921_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 100827921 AT A 420 PASS - Del - 1 5 MSH6 child X_100827921_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 4a2de8da-3273-11e6-975f-8246cab49462 16_53308377_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 53308377 AT A 360 PASS CHD9 Del intronic 1 9 MSH6 child 16_53308377_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4a37b6c0-328d-11e6-8770-3e160e01a414 9_121578403_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 121578403 GA G 420 PASS - Del - 1 9 MSH6 child 9_121578403_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4a41fdba-329c-11e6-aca6-b39fcc638e3d 2_166239793_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 166239793 TA T 480 PASS SCN2A Del intronic 1 7 MSH6 child 2_166239793_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4a4bc624-32a1-11e6-aea7-956725c9da85 3_187616742_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 187616742 CT C 420 PASS - Del - 1 7 MSH6 child 3_187616742_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4a4e396c-3289-11e6-ba61-6079a178171f 2_239070925_CCTTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 239070925 CCTT C 420 PASS - Del - 3 1 FANCC child 2_239070925_CCTTC_FANCC 3 3 2 CT 0 - Microhomology-mediated 4a580130-3276-11e6-8caa-7235b51afd22 9_107488084_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 9 107488084 CA C 360 PASS - Del - 1 8 EXO1 child 9_107488084_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 4a59dfda-3273-11e6-abaf-4642cab49462 6_117348457_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 117348457 GA G 300 PASS - Del - 1 7 MSH6 child 6_117348457_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 4a5c1cb6-3285-11e6-821e-69f1bbe6aa09 16_79189686_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 79189686 GT G 420 PASS WWOX Del intronic 1 9 MSH6 child 16_79189686_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4a6224d4-3321-11e6-aa07-9916d8fd0a58 19_58955523_TAT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 19 58955523 TA T 900 PASS ZNF132 Del upstream 1 8 CHK2 parent 19_58955523_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 4a636860-3283-11e6-9e76-639d69062303 8_4247666_CATTGTCATCCCATTGTGTTTTAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 4247666 CATTGTCATCCCATTGTGTTTTA C 300 PASS CSMD1 Del intronic 22 1 FANCC child 8_4247666_CATTGTCATCCCATTGTGTTTTAC_FANCC 22 >=10 3 ATT 0 - Microhomology-mediated 4a648e18-3290-11e6-92cf-bf2a0e01a414 6_96780193_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 96780193 CT C 300 PASS - Del - 1 9 MSH6 child 6_96780193_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4a68f168-329c-11e6-9048-b49fcc638e3d 17_29297736_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 29297736 A AT 780 PASS RNF135 Ins 5prime_UTR_variant 1 8 MSH6 child 17_29297736_AAT_MSH6 1 1 - - - - Ins 4a6c5896-3259-11e6-8cd9-139b7872c165 3_138364711_GAGAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 138364711 GAGA G 300 PASS - Del - 3 2 MSH6 child 3_138364711_GAGAG_MSH6 3 3 3 AGA 1 AGA Repeat-mediated 4a6f8de2-3284-11e6-aa1d-e9782aaffa45 4_124312381_TAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 4 124312381 TA T 480 PASS - Del - 1 6 POLE child 4_124312381_TAT_POLE 1 1 1 A 5 A Repeat-mediated 4a7c30fe-328b-11e6-8eee-76090e01a414 10_130960942_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 130960942 AT A 360 PASS - Del - 1 8 MSH6 child 10_130960942_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4a8fdf5e-3273-11e6-8f50-b45335cec73b 19_53336014_TTTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 19 53336014 T TTC 420 PASS - Ins - 2 6 CHK2 child 19_53336014_TTTC_CHK2 2 2 - - - - Ins 4a905cfc-32a2-11e6-bc2c-2a5e25c9da85 4_151660252_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 151660252 C CT 600 PASS LRBA Ins intronic 1 6 MSH6 child 4_151660252_CCT_MSH6 1 1 - - - - Ins 4a96ea98-328b-11e6-9c89-8d090e01a414 1_114707086_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 114707086 AT A 360 PASS - Del - 1 9 MSH6 child 1_114707086_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4a9bae0e-328e-11e6-b9c4-751d0e01a414 5_137911843_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 137911843 GA G 420 PASS HSPA9 Del upstream 1 9 MSH6 child 5_137911843_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4a9eb5e8-3254-11e6-89d3-d29498816cf3 2_83741281_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 83741281 TA T 360 PASS - Del - 1 8 MSH6 child 2_83741281_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4aa4b0ac-328a-11e6-a32d-75090e01a414 14_80720124_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 80720124 AT A 420 PASS DIO2 Del intronic 1 8 MSH6 child 14_80720124_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4aac07f8-3294-11e6-a82e-cff0eff7a29c 20_47376853_GTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 20 47376853 GT G 840 PASS PREX1 Del intronic 1 6 NEIL1 child 20_47376853_GTG_NEIL1 1 1 1 T 5 T Repeat-mediated 4ab73a06-328f-11e6-b8e6-91c36f39e758 11_110623621_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 110623621 G GT 720 PASS - Ins - 1 7 MSH6 child 11_110623621_GGT_MSH6 1 1 - - - - Ins 4ab93ca2-3285-11e6-a1ac-fd6da2c71c31 13_100854897_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 100854897 CT C 720 PASS PCCA Del intronic 1 8 MSH6 child 13_100854897_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4abba748-3277-11e6-ae53-82ab977b3f23 3_157626986_ACA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 3 157626986 AC A 540 PASS - Del - 1 4 NUDT1 child 3_157626986_ACA_NUDT1 1 1 1 C 3 C Repeat-mediated 4abc489e-3257-11e6-acc5-308412ae24cf 5_61698483_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 61698483 CT C 540 PASS DIMT1 Del intronic 1 7 MSH6 child 5_61698483_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4ad5e040-329a-11e6-8d0f-075325c9da85 14_45597549_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 45597549 CA C 480 PASS FKBP3 Del intronic 1 7 MSH6 child 14_45597549_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 4ad78372-3273-11e6-abaf-4642cab49462 6_117438388_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 117438388 GA G 660 PASS - Del - 1 8 MSH6 child 6_117438388_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4ad7d5ca-3291-11e6-90b7-60a39b6d3b88 12_22725156_GTATTACCTCATCTTAACTAATG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 12 22725156 GTATTACCTCATCTTAACTAAT G 780 PASS - Del - 21 1 NUDT1 child 12_22725156_GTATTACCTCATCTTAACTAATG_NUDT1 21 >=10 2 TA 0 - Microhomology-mediated 4adc7760-3278-11e6-a391-f6d67d6a9fc7 6_49075010_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 49075010 TA T 540 PASS - Del - 1 8 MSH6 child 6_49075010_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4ae3c5c2-328e-11e6-94e1-63e1191589db 3_71751611_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 71751611 GA G 420 PASS EIF4E3 Del intronic 1 6 FANCC child 3_71751611_GAG_FANCC 1 1 1 A 5 A Repeat-mediated 4aeb8eca-3274-11e6-9e18-3a69671699ea 10_127390570_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 127390570 CT C 420 PASS RP11-383C5.3 Del intronic 1 8 MSH6 child 10_127390570_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4aed649e-329b-11e6-8d0f-075325c9da85 14_101223078_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 101223078 CA C 780 PASS - Del - 1 8 MSH6 child 14_101223078_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4aedcf14-3283-11e6-9e76-639d69062303 8_4441401_ATAAATCTTGCA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 4441401 ATAAATCTTGC A 360 PASS CSMD1 Del intronic 10 1 FANCC child 8_4441401_ATAAATCTTGCA_FANCC 10 >=10 1 T 0 - Microhomology-mediated 4b056d26-3275-11e6-8889-c85efc77b11e 4_92876400_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 92876400 CT C 540 PASS - Del - 1 7 MSH6 parent 4_92876400_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4b0a2d90-3322-11e6-9611-6b5266a58581 9_13867771_ATA . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 9 13867771 AT A 540 PASS - Del - 1 9 CHK2 parent 9_13867771_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 4b0affc8-3277-11e6-92d2-c259c225ee11 3_67905842_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 67905842 CT C 360 PASS RP11-81N13.1 Del intronic 1 8 MSH6 child 3_67905842_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4b0eb322-3275-11e6-bfb2-2749c225ee11 12_54090806_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 54090806 C CA 300 PASS - Ins - 1 6 MSH6 child 12_54090806_CCA_MSH6 1 1 - - - - Ins 4b0ede66-3256-11e6-89d3-d29498816cf3 2_40601984_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 40601984 C CT 480 PASS SLC8A1 Ins intronic 1 6 MSH6 child 2_40601984_CCT_MSH6 1 1 - - - - Ins 4b1483c6-3255-11e6-b4d0-327a7872c165 11_119199388_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 119199388 CT C 540 PASS - Del - 1 9 MSH6 child 11_119199388_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4b21128a-3273-11e6-a862-bc9becf1e924 1_53902025_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 53902025 CA C 360 PASS - Del - 1 8 MSH6 child 1_53902025_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4b27cb52-3255-11e6-a304-347a7872c165 1_113628792_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 113628792 AT A 660 PASS LRIG2 Del intronic 1 6 MSH6 child 1_113628792_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 4b311aba-328a-11e6-b74f-549ba2c71c31 20_47437738_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 47437738 TA T 660 PASS PREX1 Del intronic 1 9 MSH6 child 20_47437738_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4b38e62c-3277-11e6-998e-ba48fa52e078 8_125739914_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 125739914 AC A 780 PASS MTSS1 Del intronic 1 6 MSH6 child 8_125739914_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 4b3a0be4-3275-11e6-ad99-592f98ba1142 1_146791945_GAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 1 146791945 GA G 720 PASS - Del - 1 8 NEIL1 child 1_146791945_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 4b463246-326d-11e6-bc62-6d4742c4520d 16_52287266_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 52287266 CT C 300 PASS RP11-142G1.1 Del intronic 1 8 MSH6 child 16_52287266_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4b4fcdce-3321-11e6-98d8-e3f9cf737e61 17_35546592_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 17 35546592 TA T 420 PASS ACACA Del intronic 1 9 EXO1 child 17_35546592_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 4b52cf98-3285-11e6-99f7-076ea2c71c31 12_78519400_GTGCCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 78519400 GTGCC G 420 PASS NAV3 Del intronic 4 1 MSH6 child 12_78519400_GTGCCG_MSH6 4 4 2 TG 0 - Microhomology-mediated 4b5691a0-3285-11e6-870e-6af1bbe6aa09 19_53251855_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 53251855 CT C 600 PASS - Del - 1 5 MSH6 child 19_53251855_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 4b6afebc-3274-11e6-b776-ad832aaffa45 13_99047827_CGTCCCGATCCCGC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 13 99047827 CGTCCCGATCCCG C 420 PASS FARP1 Del intronic 12 2 EXO1 child 13_99047827_CGTCCCGATCCCGC_EXO1 12 >=10 12 GTCCCGATCCCG 1 GTCCCGATCCCG Repeat-mediated 4b6c4798-3285-11e6-97d5-6cf1bbe6aa09 17_69644221_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 69644221 GA G 540 PASS - Del - 1 9 MSH6 child 17_69644221_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4b6f6e2a-3274-11e6-90a5-ccdb6de4ab00 2_74107047_CCTCCACTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 2 74107047 CCTCCACT C 300 PASS - Del - 7 1 CHK2 child 2_74107047_CCTCCACTC_CHK2 7 7 6 CTCCAC 0 - Microhomology-mediated 4b78d8ec-327a-11e6-92d2-c259c225ee11 3_81429643_TTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 81429643 T TG 840 PASS - Ins - 1 2 MSH6 child 3_81429643_TTG_MSH6 1 1 - - - - Ins 4b7d9716-3256-11e6-a349-7f23ee3c4f5d 3_113371504_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 3 113371504 TA T 300 PASS KIAA2018 Del 3prime_UTR_variant 1 9 POLB child 3_113371504_TAT_POLB 1 1 1 A 8 A Repeat-mediated 4b7ef98e-329d-11e6-bc2c-2a5e25c9da85 4_26221385_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 26221385 GT G 420 PASS RBPJ Del intronic 1 8 MSH6 child 4_26221385_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 4b80275e-329e-11e6-8c2e-3f6625c9da85 22_23616488_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 23616488 TC T 480 PASS BCR Del intronic 1 7 MSH6 child 22_23616488_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 4b9103fa-326f-11e6-b77c-ce5aceda8250 11_46624560_ATA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 11 46624560 AT A 480 PASS HARBI1 Del 3prime_UTR_variant 1 7 POLM child 11_46624560_ATA_POLM 1 1 1 T 6 T Repeat-mediated 4b971bc4-329b-11e6-ae71-0c5325c9da85 1_74667250_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 74667250 CT C 420 PASS FPGT Del intronic 1 7 MSH6 child 1_74667250_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4b992a94-3283-11e6-aa1d-e9782aaffa45 4_30683865_TAACT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 4 30683865 TAAC T 660 PASS - Del - 3 2 POLE child 4_30683865_TAACT_POLE 3 3 3 AAC 1 AAC Repeat-mediated 4b9aab46-328b-11e6-b805-77090e01a414 2_136266740_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 136266740 GA G 300 PASS ZRANB3 Del intronic 1 9 MSH6 child 2_136266740_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4b9deed0-328d-11e6-919e-92c36f39e758 2_120715755_AATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 120715755 AAT A 540 PASS PTPN4 Del intronic 2 2 MSH6 child 2_120715755_AATA_MSH6 2 2 2 AT 1 AT Repeat-mediated 4b9fd840-3287-11e6-86e9-d4770d016689 X_155021338_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 155021338 CA C 480 PASS - Del - 1 7 EXO1 child X_155021338_CAC_EXO1 1 1 1 A 6 A Repeat-mediated 4ba865b0-329f-11e6-b696-dd6225c9da85 5_143634074_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 143634074 TA T 600 PASS KCTD16 Del intronic 1 7 MSH6 child 5_143634074_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4ba97c4a-3289-11e6-a8ac-a28ea2c71c31 3_168578161_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 168578161 AT A 480 PASS - Del - 1 8 MSH6 child 3_168578161_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4bb59c4a-3258-11e6-acc5-308412ae24cf 5_138837886_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 138837886 TA T 300 PASS ECSCR Del intronic 1 9 MSH6 child 5_138837886_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4bb6a622-327a-11e6-92d2-c259c225ee11 3_81481088_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 81481088 A AT 540 PASS - Ins - 1 8 MSH6 child 3_81481088_AAT_MSH6 1 1 - - - - Ins 4bbf0e28-3286-11e6-aa13-78428e4678dd 5_143196132_GGTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 143196132 G GTA 480 PASS HMHB1 Ins intronic 2 4 EXO1 child 5_143196132_GGTA_EXO1 2 2 - - - - Ins 4bc1380a-328c-11e6-aa75-90c36f39e758 13_67462623_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 67462623 GA G 420 PASS PCDH9 Del intronic 1 7 MSH6 child 13_67462623_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 4bc76b5a-327b-11e6-b10f-b842a20b69d5 9_106050363_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 9 106050363 CA C 540 PASS RP11-341A22.2 Del intronic 1 7 FANCC parent 9_106050363_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 4be46272-3254-11e6-81f9-42f212ae24cf 17_37889853_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 37889853 GT G 360 PASS ERBB2 Del downstream 1 8 MSH6 child 17_37889853_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 4be613ee-3284-11e6-a673-cc9b38e8a824 7_31069913_TGT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 7 31069913 TG T 720 PASS - Del - 1 6 POLE parent 7_31069913_TGT_POLE 1 1 1 G 5 G Repeat-mediated 4be6b4fa-3277-11e6-ad99-592f98ba1142 1_42896258_GGA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 1 42896258 G GA 540 PASS ZMYND12 Ins 3prime_UTR_variant 1 6 NEIL1 child 1_42896258_GGA_NEIL1 1 1 - - - - Ins 4bfaeabe-329b-11e6-a5cf-205325c9da85 11_90214197_CCTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 90214197 CCT C 900 PASS DISC1FP1 Del intronic 2 5 MSH6 child 11_90214197_CCTC_MSH6 2 2 2 CT 4 CT Repeat-mediated 4bfc527a-328a-11e6-821d-8c090e01a414 13_81168852_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 81168852 GA G 360 PASS - Del - 1 6 MSH6 child 13_81168852_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 4c0044e6-3273-11e6-826a-adb6fa52e078 17_50823791_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 50823791 AT A 420 PASS - Del - 1 7 MSH6 child 17_50823791_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 4c0147ba-3291-11e6-b81f-4ee66f39e758 8_108701938_TAAAAAATAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 108701938 TAAAAAATA T 480 PASS - Del - 8 1 MSH6 child 8_108701938_TAAAAAATAT_MSH6 8 8 1 A 0 - Microhomology-mediated 4c0fb2aa-32a0-11e6-a04f-c66a25c9da85 6_64077992_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 64077992 TA T 360 PASS - Del - 1 7 MSH6 child 6_64077992_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4c11f722-3322-11e6-9ef4-36112eaed38e 9_13863162_TCTAGT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 9 13863162 TCTAG T 480 PASS - Del - 4 1 CHK2 child 9_13863162_TCTAGT_CHK2 4 4 3 CTA 0 - Microhomology-mediated 4c14adbe-3287-11e6-b32c-fd87a2c71c31 5_116383174_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 116383174 TA T 671 PASS - Del - 1 8 MSH6 child 5_116383174_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4c18d482-3284-11e6-b06d-a60c48d16a24 6_142594761_GCAAAG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 6 142594761 GCAAA G 300 PASS - Del - 4 1 POLM child 6_142594761_GCAAAG_POLM 4 4 2 CA 0 - Microhomology-mediated 4c19d4b2-328f-11e6-bfa2-581f0e01a414 7_155121802_GCG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 155121802 GC G 1002 PASS - Del - 1 1 MSH6 child 7_155121802_GCG_MSH6 1 1 0 - 0 C None 4c1f2304-3285-11e6-839a-bb9738e8a824 8_53199551_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 8 53199551 TA T 480 PASS ST18 Del intronic 1 8 POLE parent 8_53199551_TAT_POLE 1 1 1 A 7 A Repeat-mediated 4c27bc74-3282-11e6-9da4-3e472a2d4995 1_171610998_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 1 171610998 CT C 600 PASS MYOC Del intronic 1 3 EXO1 child 1_171610998_CTC_EXO1 1 1 1 T 2 T Repeat-mediated 4c2e617e-3326-11e6-9918-868d0322d171 7_131049548_GTG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 7 131049548 GT G 480 PASS MKLN1 Del intronic 1 8 EXO1 child 7_131049548_GTG_EXO1 1 1 1 T 7 T Repeat-mediated 4c345ed8-3323-11e6-84e3-a2cceab8d062 2_234429081_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 2 234429081 GA G 1020 PASS USP40 Del intronic 1 8 CHK2 parent 2_234429081_GAG_CHK2 1 1 1 A 7 A Repeat-mediated 4c41ea06-328a-11e6-a32d-75090e01a414 14_81320698_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 81320698 CA C 300 PASS CEP128 Del intronic 1 8 MSH6 child 14_81320698_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4c464cda-3259-11e6-a39a-dc8512ae24cf 8_105977298_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 105977298 GT G 540 PASS - Del - 1 8 MSH6 child 8_105977298_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 4c5496e2-3271-11e6-9309-bdc34a47a305 8_107666180_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 107666180 TA T 780 PASS OXR1 Del intronic 1 8 MSH6 child 8_107666180_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4c57beae-3275-11e6-a9be-d53298ba1142 13_72557655_GAG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 13 72557655 GA G 420 PASS - Del - 1 8 POLM child 13_72557655_GAG_POLM 1 1 1 A 7 A Repeat-mediated 4c5c7da0-326f-11e6-b5b8-e0c24a47a305 X_24272447_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 24272447 CT C 420 PASS - Del - 1 9 MSH6 child X_24272447_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4c845424-3288-11e6-a8a6-92e95d753391 10_58486626_CTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 10 58486626 CT C 300 PASS - Del - 1 9 POLE child 10_58486626_CTC_POLE 1 1 1 T 8 T Repeat-mediated 4c8da084-3287-11e6-afcf-0311bce6aa09 9_16870938_AAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 16870938 A AC 360 PASS BNC2 Ins upstream 1 1 MSH6 child 9_16870938_AAC_MSH6 1 1 - - - - Ins 4c8db4ea-328f-11e6-9230-fb250e01a414 3_89254798_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 89254798 GA G 780 PASS EPHA3 Del intronic 1 5 MSH6 child 3_89254798_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 4c8f23ca-328f-11e6-92db-6c56f0f7a29c 1_78971333_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 1 78971333 AT A 660 PASS PTGFR Del intronic 1 8 NEIL1 child 1_78971333_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 4ca07846-3258-11e6-acc5-308412ae24cf 5_138989669_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 138989669 TA T 952 PASS UBE2D2 Del intronic 1 6 MSH6 child 5_138989669_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 4ca6617e-326d-11e6-acc7-e55219a91649 1_73961518_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 73961518 CT C 360 PASS - Del - 1 7 MSH6 child 1_73961518_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4ca83134-3254-11e6-89d3-d29498816cf3 2_84752267_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 84752267 AT A 540 PASS DNAH6 Del intronic 1 8 MSH6 child 2_84752267_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4ca8b2a2-327d-11e6-8cd6-250199816cf3 5_13381375_TAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 5 13381375 TA T 420 PASS - Del - 1 1 POLM child 5_13381375_TAT_POLM 1 1 0 - 0 A None 4cb828fe-329b-11e6-a0ea-135325c9da85 15_71706664_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 71706664 CT C 660 PASS THSD4 Del intronic 1 7 MSH6 child 15_71706664_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4cbc52f4-3254-11e6-89d3-d29498816cf3 2_84761767_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 84761767 TA T 360 PASS DNAH6 Del intronic 1 7 MSH6 child 2_84761767_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4cbece1e-3275-11e6-a279-106e671699ea 3_176159016_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 3 176159016 TA T 480 PASS - Del - 1 3 EXO1 parent 3_176159016_TAT_EXO1 1 1 1 A 2 A Repeat-mediated 4cbf20a0-334a-11e6-b3a1-d0f2137bb207 5_160255456_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 5 160255456 TA T 283 PASS ATP10B Del intronic 1 7 FANCC child 5_160255456_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 4cc23894-329b-11e6-8069-175325c9da85 12_86296826_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 86296826 TA T 720 PASS - Del - 1 6 MSH6 child 12_86296826_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 4ccf9c7c-3292-11e6-802b-5da39b6d3b88 10_106701714_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 10 106701714 GA G 300 PASS SORCS3 Del intronic 1 7 NUDT1 child 10_106701714_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 4cd0c3f0-328c-11e6-bd84-429305ad5bc4 1_98624918_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 98624918 TA T 420 PASS - Del - 1 6 MSH6 child 1_98624918_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 4cd7dd50-3257-11e6-a39a-dc8512ae24cf 8_38623354_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 38623354 GA G 1140 PASS TACC1 Del intronic 1 8 MSH6 child 8_38623354_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4ce95f00-325a-11e6-a39a-dc8512ae24cf 8_16555456_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 16555456 G GA 540 PASS RP11-13N12.1 Ins intronic 1 9 MSH6 child 8_16555456_GGA_MSH6 1 1 - - - - Ins 4cf42540-332a-11e6-91f6-970e147bb207 6_83971745_AAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 83971745 A AG 300 PASS ME1 Ins intronic 1 1 EXO1 child 6_83971745_AAG_EXO1 1 1 - - - - Ins 4cf4d5a0-3274-11e6-b332-88ba7d6a9fc7 15_82283863_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 82283863 AT A 480 PASS RP11-276M12.1 Del intronic 1 8 MSH6 child 15_82283863_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4cfc1524-3277-11e6-92d2-c259c225ee11 3_68671510_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 68671510 CA C 600 PASS - Del - 1 9 MSH6 child 3_68671510_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4cfdf8c0-3273-11e6-abaf-4642cab49462 6_118010171_CGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 118010171 CG C 360 PASS NUS1 Del intronic 1 3 MSH6 child 6_118010171_CGC_MSH6 1 1 1 G 2 G Repeat-mediated 4d0ba6da-3270-11e6-b4bf-85eb97ba1142 2_118560625_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 118560625 TA T 420 PASS - Del - 1 9 EXO1 parent 2_118560625_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 4d130a96-329e-11e6-8c2e-3f6625c9da85 22_23822495_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 23822495 TA T 840 PASS AP000345.1 Del intronic 1 6 MSH6 child 22_23822495_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 4d2203fe-3279-11e6-8c34-46e27872c165 5_95357157_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 95357157 C CT 360 PASS - Ins - 1 9 MSH6 child 5_95357157_CCT_MSH6 1 1 - - - - Ins 4d243962-3274-11e6-97a4-7a51e7d0bdd7 12_107232006_GAG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 12 107232006 GA G 360 PASS RIC8B Del intronic 1 7 POLB child 12_107232006_GAG_POLB 1 1 1 A 6 A Repeat-mediated 4d31a618-328f-11e6-bb1e-70e16f39e758 X_74583528_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 74583528 CT C 480 PASS ZDHHC15 Del downstream 1 8 MSH6 child X_74583528_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4d3a4270-326f-11e6-a539-0e5542c4520d 7_18921817_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 18921817 AT A 360 PASS HDAC9 Del intronic 1 8 MSH6 child 7_18921817_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4d44031e-3292-11e6-9432-c0e56f39e758 5_82979859_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 82979859 C CA 420 PASS HAPLN1 Ins intronic 1 1 MSH6 child 5_82979859_CCA_MSH6 1 1 - - - - Ins 4d499a2c-3274-11e6-922f-729069062303 9_131819449_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 9 131819449 AT A 900 PASS FAM73B Del intronic 1 8 CHK2 child 9_131819449_ATA_CHK2 1 1 1 T 7 T Repeat-mediated 4d540618-3285-11e6-8313-52c92daed38e 6_125817772_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 6 125817772 AT A 420 PASS - Del - 1 6 POLB child 6_125817772_ATA_POLB 1 1 1 T 5 T Repeat-mediated 4d5eaee4-32a1-11e6-aea7-956725c9da85 3_188471616_ACAGACATTGGAGCCACCTTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 188471616 ACAGACATTGGAGCCACCTT A 540 PASS LPP Del intronic 19 1 MSH6 child 3_188471616_ACAGACATTGGAGCCACCTTA_MSH6 19 >=10 0 - 0 - None 4d5fe794-3276-11e6-83cd-a472a178171f 4_89569876_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 89569876 AT A 660 PASS HERC3 Del intronic 1 9 MSH6 child 4_89569876_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4d61b504-3287-11e6-8bf5-48a538e8a824 14_46203437_ATGA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 14 46203437 ATG A 540 PASS - Del - 2 7 NUDT1 parent 14_46203437_ATGA_NUDT1 2 2 2 TG 6 TG Repeat-mediated 4d650f4e-328a-11e6-8580-eccd191589db 16_81540693_TAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 16 81540693 TA T 360 PASS CMIP Del intronic 1 8 FANCC child 16_81540693_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 4d659576-3272-11e6-940c-da0fead19ece 11_50344817_GAGCTAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 11 50344817 GAGCTA G 480 PASS - Del - 5 1 NEIL1 child 11_50344817_GAGCTAG_NEIL1 5 5 3 AGC 0 - Microhomology-mediated 4d6abf9e-3289-11e6-821d-8c090e01a414 13_22908759_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 22908759 GA G 480 PASS - Del - 1 5 MSH6 child 13_22908759_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 4d745bd8-329f-11e6-91d0-016425c9da85 7_106023255_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 106023255 AT A 420 PASS - Del - 1 9 MSH6 child 7_106023255_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4d771080-328b-11e6-b805-77090e01a414 2_136673771_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 136673771 TA T 480 PASS DARS Del intronic 1 9 MSH6 child 2_136673771_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4d792582-326d-11e6-adc2-b7204b47a305 18_57741144_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 57741144 GT G 294 PASS - Del - 1 7 MSH6 child 18_57741144_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 4d7cf12c-329e-11e6-bc2c-2a5e25c9da85 4_88987142_ACTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 88987142 ACT A 360 PASS PKD2 Del intronic 2 7 MSH6 child 4_88987142_ACTA_MSH6 2 2 2 CT 6 CT Repeat-mediated 4d83f7a0-326d-11e6-acc7-e55219a91649 1_74290348_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 74290348 TG T 360 PASS - Del - 1 5 MSH6 child 1_74290348_TGT_MSH6 1 1 1 G 4 G Repeat-mediated 4d894ba4-326f-11e6-b306-b5204b47a305 2_236406912_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 236406912 TC T 540 PASS AGAP1 Del intronic 1 5 MSH6 child 2_236406912_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 4d913212-3272-11e6-bbeb-70bd19a91649 20_17968558_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 17968558 TG T 300 PASS MGME1 Del intronic 1 7 MSH6 child 20_17968558_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 4d983a1e-328e-11e6-b8e6-91c36f39e758 11_42539705_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 42539705 C CA 436 PASS - Ins - 1 8 MSH6 child 11_42539705_CCA_MSH6 1 1 - - - - Ins 4d99efa6-329a-11e6-ae71-0c5325c9da85 1_22260839_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 22260839 AT A 960 PASS HSPG2 Del intronic 1 5 MSH6 child 1_22260839_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 4d9a2026-328f-11e6-9d97-efe56f39e758 4_45925126_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 45925126 CT C 480 PASS - Del - 1 7 MSH6 child 4_45925126_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 4daa94ca-329d-11e6-aca6-b39fcc638e3d 2_225713612_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 225713612 GA G 480 PASS DOCK10 Del intronic 1 8 MSH6 child 2_225713612_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4dac5372-3276-11e6-8c34-46e27872c165 5_62434707_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 62434707 CT C 600 PASS - Del - 1 9 MSH6 child 5_62434707_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4db072a0-3289-11e6-821d-8c090e01a414 13_22976454_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 22976454 AT A 300 PASS - Del - 1 6 MSH6 child 13_22976454_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 4db2790e-329f-11e6-b696-dd6225c9da85 5_144239926_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 144239926 AT A 480 PASS - Del - 1 9 MSH6 child 5_144239926_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4db81f84-3291-11e6-92cf-bf2a0e01a414 6_159159279_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 159159279 GT G 360 PASS SYTL3 Del intronic 1 7 MSH6 child 6_159159279_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 4dbd9308-328f-11e6-9230-fb250e01a414 3_89974935_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 89974935 CA C 360 PASS - Del - 1 9 MSH6 child 3_89974935_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4dbf152a-3271-11e6-acc7-e55219a91649 1_170478926_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 170478926 T TA 300 PASS - Ins - 1 4 MSH6 child 1_170478926_TTA_MSH6 1 1 - - - - Ins 4dc3c24c-3289-11e6-b805-77090e01a414 2_7343520_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 7343520 CA C 360 PASS - Del - 1 3 MSH6 child 2_7343520_CAC_MSH6 1 1 1 A 2 A Repeat-mediated 4dc56204-3285-11e6-99f7-076ea2c71c31 12_79381465_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 79381465 TA T 540 PASS SYT1 Del intronic 1 7 MSH6 child 12_79381465_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4dc7deee-3285-11e6-97d5-6cf1bbe6aa09 17_70681141_GGCCAGACACAAGATACAAATGGTGCTGAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 70681141 GGCCAGACACAAGATACAAATGGTGCTGA G 540 PASS SLC39A11 Del intronic 28 1 MSH6 child 17_70681141_GGCCAGACACAAGATACAAATGGTGCTGAG_MSH6 28 >=10 2 GC 0 - Microhomology-mediated 4dcaab5a-3277-11e6-bcf0-b3e76de4ab00 22_25990876_TAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 22 25990876 TA T 360 PASS ADRBK2 Del intronic 1 5 CHK2 child 22_25990876_TAT_CHK2 1 1 1 A 4 A Repeat-mediated 4dd84a96-3275-11e6-a71d-236235cec73b X_935255_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 935255 GT G 480 PASS - Del - 1 6 MSH6 child X_935255_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 4dd85dbe-3325-11e6-afff-8a61fc77b11e 7_10235836_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 7 10235836 AT A 600 PASS - Del - 1 5 EXO1 child 7_10235836_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 4de82cba-3273-11e6-a862-bc9becf1e924 1_54691179_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 54691179 CT C 540 PASS SSBP3 Del downstream 1 8 MSH6 child 1_54691179_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4decdff6-3252-11e6-bb07-5705ee3c4f5d 11_61633745_CTTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 11 61633745 CTT C 540 PASS FADS2 Del 3prime_UTR_variant 2 2 POLB child 11_61633745_CTTC_POLB 2 2 0 - 0 - None 4dedbc7a-3273-11e6-975f-8246cab49462 16_54104467_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 54104467 AT A 600 PASS FTO Del intronic 1 7 MSH6 child 16_54104467_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 4df933bc-329a-11e6-b74d-b59fcc638e3d 18_31797240_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 31797240 CT C 716 PASS NOL4 Del intronic 1 9 MSH6 child 18_31797240_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4dfefe90-329b-11e6-aca6-b39fcc638e3d 2_99970828_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 99970828 AT A 540 PASS EIF5B Del intronic 1 6 MSH6 child 2_99970828_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 4e09170a-3277-11e6-9608-84e46de4ab00 7_115029336_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 115029336 GT G 780 PASS - Del - 1 2 EXO1 child 7_115029336_GTG_EXO1 1 1 1 T 1 T Repeat-mediated 4e0a2e8c-327d-11e6-8723-889be7d0bdd7 2_120510069_CACTAC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 120510069 CACTA C 300 PASS - Del - 4 2 NUDT1 child 2_120510069_CACTAC_NUDT1 4 4 4 ACTA 1 ACTA Repeat-mediated 4e0ec4f6-328c-11e6-bd84-429305ad5bc4 1_99328124_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 99328124 CT C 780 PASS - Del - 1 8 MSH6 child 1_99328124_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4e0fb132-3254-11e6-89d3-d29498816cf3 2_85275502_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 85275502 AT A 540 PASS KCMF1 Del intronic 1 8 MSH6 child 2_85275502_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4e1566c2-3286-11e6-ba9a-5a79a178171f 14_60629485_CTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 14 60629485 CT C 480 PASS DHRS7 Del intronic 1 8 FANCC child 14_60629485_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 4e17eec2-3274-11e6-8cac-d8617098ee92 10_116770420_CCA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 10 116770420 C CA 300 PASS - Ins - 1 8 FANCC child 10_116770420_CCA_FANCC 1 1 - - - - Ins 4e23d38e-328a-11e6-9b74-edcd191589db 10_91327012_AGAGCTGTACATGTCTTTGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 10 91327012 AGAGCTGTACATGTCTTTG A 420 PASS - Del - 18 1 FANCC child 10_91327012_AGAGCTGTACATGTCTTTGA_FANCC 18 >=10 4 GAGC 0 - Microhomology-mediated 4e3cfcd6-329b-11e6-9048-b49fcc638e3d 17_63845064_CCTGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 63845064 CCTG C 540 PASS CEP112 Del intronic 3 3 MSH6 child 17_63845064_CCTGC_MSH6 3 3 3 CTG 2 CTG Repeat-mediated 4e4623fc-329f-11e6-91d0-016425c9da85 7_106389760_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 106389760 TA T 600 PASS - Del - 1 9 MSH6 child 7_106389760_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4e47cdf2-3271-11e6-81c8-19f506e9a829 2_33535441_ACTAATGAAAACACAGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 33535441 ACTAATGAAAACACAG A 420 PASS LTBP1 Del intronic 15 1 FANCC child 2_33535441_ACTAATGAAAACACAGA_FANCC 15 >=10 1 C 0 - Microhomology-mediated 4e4978b6-328d-11e6-b9c4-751d0e01a414 5_68122113_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 68122113 CT C 300 PASS - Del - 1 8 MSH6 child 5_68122113_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4e693a48-32a1-11e6-aea7-956725c9da85 3_188809643_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 188809643 AT A 480 PASS TPRG1 Del intronic 1 8 MSH6 child 3_188809643_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4e75d228-326d-11e6-adc2-b7204b47a305 18_58571789_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 58571789 AT A 300 PASS RP11-325K19.1 Del upstream 1 9 MSH6 child 18_58571789_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4e88a628-329a-11e6-b74d-b59fcc638e3d 18_31995086_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 31995086 CT C 780 PASS - Del - 1 8 MSH6 child 18_31995086_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4e8d425c-3275-11e6-90ac-b4c37872c165 8_16701909_GGT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 16701909 G GT 600 PASS RP11-13N12.1 Ins intronic 1 1 NEIL1 child 8_16701909_GGT_NEIL1 1 1 - - - - Ins 4e90f6f8-3325-11e6-98e4-0c20d8fd0a58 X_113971616_CTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA X 113971616 CT C 300 PASS HTR2C Del intronic 1 8 CHK2 parent X_113971616_CTC_CHK2 1 1 1 T 7 T Repeat-mediated 4e93acae-328f-11e6-9d97-efe56f39e758 4_46190472_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 46190472 GA G 480 PASS - Del - 1 8 MSH6 child 4_46190472_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 4e998756-3284-11e6-aa13-78428e4678dd 5_149927413_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 149927413 AT A 660 PASS NDST1 Del intronic 1 5 EXO1 child 5_149927413_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 4e9a3e34-329e-11e6-bc2c-2a5e25c9da85 4_89230585_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 89230585 GA G 540 PASS RP11-10L7.1 Del intronic 1 9 MSH6 child 4_89230585_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4ea25c40-328f-11e6-a081-1bb7a178171f X_44565134_GTG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA X 44565134 GT G 720 PASS - Del - 1 5 POLE child X_44565134_GTG_POLE 1 1 1 T 4 T Repeat-mediated 4eb3f336-32a0-11e6-aea7-956725c9da85 3_122977246_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 122977246 GA G 660 PASS SEC22A Del intronic 1 9 MSH6 child 3_122977246_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4ebb092e-3286-11e6-b84c-a2a0fc1f1540 1_87811759_CTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 87811759 CT C 600 PASS LMO4 Del 3prime_UTR_variant 1 7 FANCC child 1_87811759_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 4ebd7748-3256-11e6-b25c-c08312ae24cf 6_1563335_ATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 6 1563335 AT A 360 PASS - Del - 1 1 POLB child 6_1563335_ATA_POLB 1 1 0 - 0 T None 4ebe0b1a-3272-11e6-abaf-4642cab49462 6_45740249_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 45740249 GA G 420 PASS - Del - 1 9 MSH6 child 6_45740249_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4ec2b37a-3274-11e6-a390-fc104530f757 1_239183074_GAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 239183074 GA G 480 PASS - Del - 1 7 FANCC child 1_239183074_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 4ec48cc8-3291-11e6-b77d-2eef6f39e758 6_52122495_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 52122495 GA G 840 PASS - Del - 1 6 MSH6 child 6_52122495_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 4ec6a2ca-3281-11e6-9f44-a22236fc2f7d 18_48948881_GAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 18 48948881 GA G 480 PASS RP11-267C16.1 Del intronic 1 7 NUDT1 child 18_48948881_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 4ec6e316-3286-11e6-90da-f3a469062303 6_167750369_ACTGAAAAGAAGCATTTCA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 167750369 ACTGAAAAGAAGCATTTC A 540 PASS TTLL2 Del intronic 17 1 FANCC child 6_167750369_ACTGAAAAGAAGCATTTCA_FANCC 17 >=10 2 CT 0 - Microhomology-mediated 4ec6e5ea-3273-11e6-bb8e-1d1e987b3f23 21_29093522_GAG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 21 29093522 GA G 360 PASS LINC00113 Del upstream 1 7 NUDT1 child 21_29093522_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 4ec73fe6-3286-11e6-b32c-fd87a2c71c31 5_6925053_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 6925053 AC A 360 PASS - Del - 1 5 MSH6 child 5_6925053_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 4ec7b73a-3274-11e6-9e18-3a69671699ea 10_128316584_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 128316584 TA T 780 PASS C10orf90 Del intronic 1 8 MSH6 child 10_128316584_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4ed49728-3271-11e6-bd32-d83490e2c2e6 12_12975395_AAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 12 12975395 A AT 600 PASS DDX47 Ins intronic 1 7 POLB child 12_12975395_AAT_POLB 1 1 - - - - Ins 4ed6144c-32a1-11e6-b696-dd6225c9da85 5_92294216_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 92294216 G GT 420 PASS - Ins - 1 8 MSH6 child 5_92294216_GGT_MSH6 1 1 - - - - Ins 4ed74afe-328a-11e6-9c89-8d090e01a414 1_52915804_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 52915804 CA C 480 PASS ZCCHC11 Del intronic 1 7 MSH6 child 1_52915804_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 4ed8b790-326c-11e6-845f-b7e0c125ee11 11_20553875_GAG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 11 20553875 GA G 540 PASS - Del - 1 6 POLM parent 11_20553875_GAG_POLM 1 1 1 A 5 A Repeat-mediated 4ee2e454-328a-11e6-9c89-8d090e01a414 1_52925373_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 52925373 CA C 600 PASS ZCCHC11 Del intronic 1 4 MSH6 child 1_52925373_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 4ef0d3fa-3255-11e6-8fbd-68832aaffa45 12_89152414_TCTCT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 12 89152414 TCTC T 540 PASS - Del - 3 1 POLM child 12_89152414_TCTCT_POLM 3 3 2 CT 0 - Microhomology-mediated 4f0b98c2-3299-11e6-8f27-3d588cd8cd69 21_33997534_CTCGC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 21 33997534 CTCG C 1080 PASS SYNJ1 Del downstream 3 1 CHK2 child 21_33997534_CTCGC_CHK2 3 3 2 TC 0 - Microhomology-mediated 4f0cb85a-3259-11e6-8340-da9012ae24cf 6_50288011_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 50288011 TA T 540 PASS - Del - 1 7 MSH6 child 6_50288011_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4f0d0324-32a3-11e6-b970-398625c9da85 20_60841179_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 60841179 TA T 720 PASS OSBPL2 Del intronic 1 9 MSH6 child 20_60841179_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4f13ecb4-328c-11e6-919e-92c36f39e758 2_52395429_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 52395429 TA T 480 PASS AC007682.1 Del intronic 1 7 MSH6 child 2_52395429_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 4f16da2c-3274-11e6-ace0-120b4ec77248 17_59846154_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 17 59846154 AT A 600 PASS BRIP1 Del intronic 1 4 EXO1 child 17_59846154_ATA_EXO1 1 1 1 T 3 T Repeat-mediated 4f27de24-3294-11e6-bbbf-4d50046f68b1 16_76528624_TTA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 16 76528624 T TA 420 PASS CNTNAP4 Ins intronic 1 6 NEIL1 child 16_76528624_TTA_NEIL1 1 1 - - - - Ins 4f2b3ba8-32a0-11e6-bc66-17b4cc638e3d 8_96655588_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 96655588 AT A 600 PASS KB-1047C11.2 Del intronic 1 9 MSH6 child 8_96655588_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4f2b66c2-3288-11e6-a8ac-a28ea2c71c31 3_61638995_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 61638995 CT C 480 PASS PTPRG Del intronic 1 9 MSH6 child 3_61638995_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4f2c0c7c-3296-11e6-8ff8-970ab51afd22 X_126711033_CTTC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA X 126711033 CTT C 300 PASS - Del - 2 3 NEIL1 child X_126711033_CTTC_NEIL1 2 2 1 T 0 - Microhomology-mediated 4f2d57f2-3283-11e6-8500-13197e6a9fc7 1_244288364_AAGATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 1 244288364 AAGAT A 840 PASS - Del - 4 3 POLB child 1_244288364_AAGATA_POLB 4 4 4 AGAT 2 AGAT Repeat-mediated 4f2e2d90-3273-11e6-83ef-69fb06e9a829 18_64663034_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 64663034 CA C 540 PASS - Del - 1 9 MSH6 child 18_64663034_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4f3cd8c0-3270-11e6-b89d-b2d6b0dab373 4_53607584_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 53607584 GT G 300 PASS ERVMER34-1 Del downstream 1 9 MSH6 child 4_53607584_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4f3e923a-3286-11e6-a8af-066ea2c71c31 15_22354934_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 22354934 C CT 540 PASS - Ins - 1 6 MSH6 child 15_22354934_CCT_MSH6 1 1 - - - - Ins 4f42e196-3286-11e6-8064-0e1e987b3f23 6_10949586_ATA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 6 10949586 AT A 420 PASS SYCP2L Del intronic 1 6 NEIL1 parent 6_10949586_ATA_NEIL1 1 1 1 T 5 T Repeat-mediated 4f4c8b7e-3286-11e6-a21c-b819bce6aa09 X_9818725_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 9818725 CA C 540 PASS SHROOM2 Del intronic 1 5 MSH6 child X_9818725_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 4f571d00-3254-11e6-8ebc-3ef212ae24cf 15_60091740_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 60091740 AT A 840 PASS - Del - 1 8 MSH6 child 15_60091740_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 4f59295c-3276-11e6-b89c-b448aea0a4d2 2_148250709_CAC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 2 148250709 CA C 480 PASS RNU6-715P Del downstream 1 8 POLM child 2_148250709_CAC_POLM 1 1 1 A 7 A Repeat-mediated 4f724288-329a-11e6-b74d-b59fcc638e3d 18_32442764_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 32442764 TA T 720 PASS DTNA Del intronic 1 9 MSH6 child 18_32442764_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 4f75bce2-3272-11e6-b5b8-e0c24a47a305 X_66187503_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 66187503 T TA 540 PASS - Ins - 1 6 MSH6 child X_66187503_TTA_MSH6 1 1 - - - - Ins 4f79f778-328e-11e6-bb1e-70e16f39e758 X_43998124_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 43998124 TA T 780 PASS - Del - 1 8 MSH6 child X_43998124_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4f7cef24-3292-11e6-8d18-13cc0d01a414 20_41826629_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 41826629 GA G 300 PASS - Del - 1 7 MSH6 child 20_41826629_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 4f7d2b5c-3287-11e6-b32c-fd87a2c71c31 5_118130693_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 118130693 AT A 540 PASS - Del - 1 9 MSH6 child 5_118130693_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4f809906-3285-11e6-9546-b5936f39e758 15_76336838_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 76336838 TA T 923 PASS NRG4 Del intronic 1 8 EXO1 child 15_76336838_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 4f8a6010-3291-11e6-9749-1e2c0625f869 4_106244794_GAG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 4 106244794 GA G 348 PASS - Del - 1 7 NEIL1 child 4_106244794_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated 4f911f10-328f-11e6-9d97-efe56f39e758 4_46576055_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 46576055 GT G 420 PASS - Del - 1 9 MSH6 child 4_46576055_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4f939418-326f-11e6-a0a7-943dc225ee11 1_23536966_ATCAGGGTGTCAGATGGGAAGGACTCTTAGGAATCATCTAGTCCGACTCCCTCATGATGCTGACAGGAATTGGGCTCAGAGAGGGCAAGACACTTGCTCAAGGTAACACAGTGTGTTACAGGCTGAGACCAAGTCTTCAGACTCCCACCAGCGCTCCTTCTACTGGCTCCTGCTTGCAACAGGAATTTGAGATGAAAGAGAGAAGGCTCTCAGGCCCATTTCACACTATATGCTTCTGGCATTTTCAAGTCTCCCCCCCAGCTCTCATCTGAGTTTCCACACCAGGTGAGTAATCCTGGGAGCCGACTGGCAGGGCTGACCATACTTTGCAAGAAGCCTTTAGAACTGCATCCCCCCTATACTGGAGCCCAACCTCTCTCTTCTCTTCTCCCCCAGATGCTGCACACCTGGGTCCGCAGAGAACACTTTGAGCTGATGGAGTGAATATTTCCAGGACAGAGGAGAAGCTATCTTCTCTAGACTGGATAAACAAGGTACTAACAACAGGAATTCATTTTCTTGAAACCAAACACCAAATTTGTTAGTGTTTACAGGATACAAACTTGCTATTCATCATCTGCTTTTTCTTTTGGGAGCCACAATACAGGTGTGATTCAGAGCACAAGCTTTGGAGCTAGATACAGCTATGGAGTCAGGTAGACTGAACTCACGTGA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 23536966 ATCAGGGTGTCAGATGGGAAGGACTCTTAGGAATCATCTAGTCCGACTCCCTCATGATGCTGACAGGAATTGGGCTCAGAGAGGGCAAGACACTTGCTCAAGGTAACACAGTGTGTTACAGGCTGAGACCAAGTCTTCAGACTCCCACCAGCGCTCCTTCTACTGGCTCCTGCTTGCAACAGGAATTTGAGATGAAAGAGAGAAGGCTCTCAGGCCCATTTCACACTATATGCTTCTGGCATTTTCAAGTCTCCCCCCCAGCTCTCATCTGAGTTTCCACACCAGGTGAGTAATCCTGGGAGCCGACTGGCAGGGCTGACCATACTTTGCAAGAAGCCTTTAGAACTGCATCCCCCCTATACTGGAGCCCAACCTCTCTCTTCTCTTCTCCCCCAGATGCTGCACACCTGGGTCCGCAGAGAACACTTTGAGCTGATGGAGTGAATATTTCCAGGACAGAGGAGAAGCTATCTTCTCTAGACTGGATAAACAAGGTACTAACAACAGGAATTCATTTTCTTGAAACCAAACACCAAATTTGTTAGTGTTTACAGGATACAAACTTGCTATTCATCATCTGCTTTTTCTTTTGGGAGCCACAATACAGGTGTGATTCAGAGCACAAGCTTTGGAGCTAGATACAGCTATGGAGTCAGGTAGACTGAACTCACGTG A 660 PASS - Del - 673 1 EXO1 parent 1_23536966_ATCAGGGTGTCAGATGGGAAGGACTCTTAGGAATCATCTAGTCCGACTCCCTCATGATGCTGACAGGAATTGGGCTCAGAGAGGGCAAGACACTTGCTCAAGGTAACACAGTGTGTTACAGGCTGAGACCAAGTCTTCAGACTCCCACCAGCGCTCCTTCTACTGGCTCCTGCTTGCAACAGGAATTTGAGATGAAAGAGAGAAGGCTCTCAGGCCCATTTCACACTATATGCTTCTGGCATTTTCAAGTCTCCCCCCCAGCTCTCATCTGAGTTTCCACACCAGGTGAGTAATCCTGGGAGCCGACTGGCAGGGCTGACCATACTTTGCAAGAAGCCTTTAGAACTGCATCCCCCCTATACTGGAGCCCAACCTCTCTCTTCTCTTCTCCCCCAGATGCTGCACACCTGGGTCCGCAGAGAACACTTTGAGCTGATGGAGTGAATATTTCCAGGACAGAGGAGAAGCTATCTTCTCTAGACTGGATAAACAAGGTACTAACAACAGGAATTCATTTTCTTGAAACCAAACACCAAATTTGTTAGTGTTTACAGGATACAAACTTGCTATTCATCATCTGCTTTTTCTTTTGGGAGCCACAATACAGGTGTGATTCAGAGCACAAGCTTTGGAGCTAGATACAGCTATGGAGTCAGGTAGACTGAACTCACGTGA_EXO1 673 >=10 4 TCAG 0 - Microhomology-mediated 4f9c4f92-329f-11e6-94ca-0aaecc638e3d X_112746791_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 112746791 TA T 360 PASS - Del - 1 8 MSH6 child X_112746791_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4f9e8378-3274-11e6-b332-88ba7d6a9fc7 15_82522054_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 82522054 TA T 813 PASS EFTUD1 Del intronic 1 8 MSH6 child 15_82522054_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 4fa8fb00-329c-11e6-a5cf-e5abcc638e3d 9_5241062_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 5241062 AT A 518 PASS - Del - 1 7 MSH6 child 9_5241062_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 4faeca48-329d-11e6-ae71-0c5325c9da85 1_201685143_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 201685143 GA G 540 PASS NAV1 Del intronic 1 9 MSH6 child 1_201685143_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4fb56fda-3273-11e6-9e18-3a69671699ea 10_66544447_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 66544447 GT G 720 PASS - Del - 1 8 MSH6 child 10_66544447_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 4fb5a59e-328d-11e6-b9c4-751d0e01a414 5_68454189_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 68454189 CT C 360 PASS - Del - 1 8 MSH6 child 5_68454189_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 4fb770cc-32a1-11e6-aea7-956725c9da85 3_189188779_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 189188779 CT C 420 PASS - Del - 1 9 MSH6 child 3_189188779_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 4fb9089e-3272-11e6-a721-59c27872c165 5_81838361_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 5 81838361 AT A 300 PASS CTD-2015A6.1 Del downstream 1 8 NEIL1 child 5_81838361_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 4fbf0954-3274-11e6-bfb2-2749c225ee11 12_126844326_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 126844326 TA T 660 PASS RP4-809F18.1 Del intronic 1 6 MSH6 child 12_126844326_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 4fc33a90-32a3-11e6-b970-398625c9da85 20_60979236_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 60979236 CA C 480 PASS CABLES2 Del intronic 1 9 MSH6 child 20_60979236_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 4fc6887e-325a-11e6-8340-da9012ae24cf 6_126846825_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 126846825 CA C 420 PASS - Del - 1 8 MSH6 child 6_126846825_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4fc6b1c2-3279-11e6-8026-e974e7d0bdd7 2_55858994_TCACAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 2 55858994 TCACA T 660 PASS PNPT1 Del downstream 4 5 FANCC parent 2_55858994_TCACAT_FANCC 4 4 4 CACA 3 CA Repeat-mediated 4fc949f4-328e-11e6-bfac-a2a9cdacbbbf 11_93997400_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 11 93997400 AT A 480 PASS RP11-680H20.2 Del intronic 1 8 POLB child 11_93997400_ATA_POLB 1 1 1 T 7 T Repeat-mediated 4fd0735c-326e-11e6-9fba-41ebd8b4fa2c 11_66076017_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 66076017 CA C 660 PASS - Del - 1 8 MSH6 child 11_66076017_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 4fdbd9e6-3286-11e6-9317-6ba56f39e758 8_4888168_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 4888168 GA G 300 PASS - Del - 1 9 EXO1 child 8_4888168_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 4fdd8b68-3292-11e6-80ab-78dad8b4fa2c 19_46615747_GTGTTG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 19 46615747 GTGTT G 600 PASS AC007193.6 Del intronic 4 1 NUDT1 child 19_46615747_GTGTTG_NUDT1 4 4 2 TG 0 - Microhomology-mediated 4fde1ef6-328e-11e6-919e-92c36f39e758 2_190033275_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 190033275 GA G 480 PASS COL5A2 Del intronic 1 9 MSH6 child 2_190033275_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 4fe5a396-32a3-11e6-b970-398625c9da85 20_61013614_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 61013614 TG T 540 PASS - Del - 1 6 MSH6 child 20_61013614_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 4fe5c2a2-3296-11e6-b0f9-fcf7d8b4fa2c X_107532792_TAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA X 107532792 TA T 360 PASS COL4A6 Del intronic 1 9 NUDT1 child X_107532792_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 4fe6242c-3287-11e6-997d-e46e3adbad45 12_39405207_CTGC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 12 39405207 CTG C 720 PASS - Del - 2 2 NUDT1 parent 12_39405207_CTGC_NUDT1 2 2 2 TG 1 TG Repeat-mediated 4fed8d8c-3275-11e6-a2a4-305390e2c2e6 3_180360046_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 180360046 AT A 360 PASS CCDC39 Del intronic 1 8 POLB child 3_180360046_ATA_POLB 1 1 1 T 7 T Repeat-mediated 4fee926a-3273-11e6-9fba-41ebd8b4fa2c 11_122735739_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 122735739 T TA 300 PASS CRTAM Ins intronic 1 1 MSH6 child 11_122735739_TTA_MSH6 1 1 - - - - Ins 4ff32d70-329b-11e6-b549-1e5325c9da85 10_88590602_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 88590602 GT G 720 PASS BMPR1A Del intronic 1 9 MSH6 child 10_88590602_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4ff65a4e-3256-11e6-885f-d1947872c165 4_12055823_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 12055823 GT G 480 PASS - Del - 1 9 MSH6 child 4_12055823_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 4ff8a742-3272-11e6-b89d-b2d6b0dab373 4_186396231_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 186396231 AT A 420 PASS CCDC110 Del upstream 1 9 MSH6 child 4_186396231_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 4ffbad42-3287-11e6-a21c-b819bce6aa09 X_62284088_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 62284088 TA T 420 PASS - Del - 1 9 MSH6 child X_62284088_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 50060558-326e-11e6-b306-b5204b47a305 2_152079055_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 152079055 TC T 300 PASS - Del - 1 6 MSH6 child 2_152079055_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 5018f796-3285-11e6-8ebc-68f1bbe6aa09 18_20611709_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 20611709 A AT 540 PASS - Ins - 1 2 MSH6 child 18_20611709_AAT_MSH6 1 1 - - - - Ins 501968c6-3284-11e6-9546-b5936f39e758 15_50605061_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 50605061 CT C 360 PASS GABPB1 Del intronic 1 8 EXO1 child 15_50605061_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 501d17d0-3290-11e6-9d97-efe56f39e758 4_115817387_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 115817387 GA G 720 PASS NDST4 Del intronic 1 6 MSH6 child 4_115817387_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 501f218a-327a-11e6-83cd-a472a178171f 4_178361188_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 178361188 G GT 660 PASS AGA Ins intronic 1 5 MSH6 child 4_178361188_GGT_MSH6 1 1 - - - - Ins 501f6e1c-328c-11e6-919e-92c36f39e758 2_52800352_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 52800352 AT A 720 PASS - Del - 1 9 MSH6 child 2_52800352_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5026387a-3276-11e6-b872-fc996f39e758 8_60792446_GAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 8 60792446 GA G 540 PASS - Del - 1 9 NEIL1 child 8_60792446_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 50295b82-327a-11e6-bb6d-38aec042253c 3_34796365_GGA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 3 34796365 G GA 300 PASS - Ins - 1 8 CHK2 child 3_34796365_GGA_CHK2 1 1 - - - - Ins 502e43d4-3286-11e6-b282-3612147bb207 6_41307048_ACTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCAGACTATGCCACTTGTTTTTGTTGTTGTTGTTATTGTTGTTGTTTTGAGACAGAGTCTCACTCAGTCACCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTTATATTTTTACTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCTCA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 6 41307048 ACTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCAGACTATGCCACTTGTTTTTGTTGTTGTTGTTATTGTTGTTGTTTTGAGACAGAGTCTCACTCAGTCACCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTTATATTTTTACTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCTC A 351 PASS NCR2 Del intronic 323 1 FANCC child 6_41307048_ACTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCAGACTATGCCACTTGTTTTTGTTGTTGTTGTTATTGTTGTTGTTTTGAGACAGAGTCTCACTCAGTCACCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTTATATTTTTACTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCTCA_FANCC 323 >=10 31 CTCGGCCTCCCAAAGTGCTGGGATTACAGGC 0 - Microhomology-mediated 502f6a78-32a1-11e6-91d0-016425c9da85 7_67632306_TTTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 67632306 T TTA 300 PASS RP5-945F2.3 Ins intronic 2 5 MSH6 child 7_67632306_TTTA_MSH6 2 2 - - - - Ins 50359154-3275-11e6-b6cd-6bb47098ee92 21_42350837_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 21 42350837 CT C 300 PASS - Del - 1 7 FANCC child 21_42350837_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 503743dc-3275-11e6-b8ae-92c57872c165 14_106251261_GGAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 106251261 G GAT 382 PASS - Ins - 2 5 MSH6 child 14_106251261_GGAT_MSH6 2 2 - - - - Ins 5038ba58-3277-11e6-92d2-c259c225ee11 3_69388168_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 69388168 AT A 720 PASS FRMD4B Del intronic 1 1 MSH6 child 3_69388168_ATA_MSH6 1 1 0 - 0 T None 50405ef8-3320-11e6-a14e-43a02aaffa45 19_3370367_ATCA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 19 3370367 ATC A 300 PASS NFIC Del intronic 2 4 CHK2 child 19_3370367_ATCA_CHK2 2 2 2 TC 3 TC Repeat-mediated 505ab072-3259-11e6-8cd9-139b7872c165 3_140077636_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 140077636 GT G 540 PASS CLSTN2 Del intronic 1 7 MSH6 child 3_140077636_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 505cd884-3254-11e6-8a2a-3af212ae24cf 16_46860599_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 46860599 AT A 480 PASS C16orf87 Del intronic 1 6 MSH6 child 16_46860599_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 505d87f0-326f-11e6-819e-9d1aa20b69d5 11_33717167_ACA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 33717167 AC A 540 PASS C11orf91 Del downstream 1 2 EXO1 parent 11_33717167_ACA_EXO1 1 1 1 C 1 C Repeat-mediated 50672e92-3286-11e6-afcf-0311bce6aa09 9_68291231_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 68291231 GA G 420 PASS - Del - 1 9 MSH6 child 9_68291231_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 50704e76-326f-11e6-b306-b5204b47a305 2_237593861_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 237593861 CT C 540 PASS - Del - 1 9 MSH6 child 2_237593861_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 507114e2-3291-11e6-9d24-ade56f39e758 7_11125473_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 11125473 G GT 540 PASS PHF14 Ins intronic 1 7 MSH6 child 7_11125473_GGT_MSH6 1 1 - - - - Ins 5073dfa4-328e-11e6-8c87-38240e01a414 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 41558882 TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGG TTAAAAATAGATAATTAT 360 PASS EP300 Complex ess_splice 1593 0 MSH6 child 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT_MSH6 1576 >=10 - - - - Complex 5076bb06-3285-11e6-870e-6af1bbe6aa09 19_54389826_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 54389826 TA T 540 PASS PRKCG Del intronic 1 9 MSH6 child 19_54389826_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 507c65ec-3280-11e6-a2c9-149290e2c2e6 3_45380317_AGTTA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 45380317 AGTT A 600 PASS - Del - 3 2 NUDT1 child 3_45380317_AGTTA_NUDT1 3 3 3 GTT 1 GTT Repeat-mediated 507f65b0-3327-11e6-a5dc-75b8cde16804 1_205528921_AAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 205528921 A AG 300 PASS - Ins - 1 1 EXO1 child 1_205528921_AAG_EXO1 1 1 - - - - Ins 5085d8e0-3292-11e6-9401-04ed6f39e758 3_165492130_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 165492130 AT A 360 PASS BCHE Del intronic 1 9 MSH6 child 3_165492130_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 50891de0-3290-11e6-b4b8-6de0977b3f23 5_148313102_CTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 5 148313102 CT C 660 PASS - Del - 1 1 NEIL1 child 5_148313102_CTC_NEIL1 1 1 0 - 0 T None 508b2dce-329f-11e6-b696-dd6225c9da85 5_145155487_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 145155487 GA G 960 PASS PRELID2 Del intronic 1 9 MSH6 child 5_145155487_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 508c16f8-3286-11e6-8b67-086ea2c71c31 1_170335697_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 170335697 AT A 600 PASS - Del - 1 9 MSH6 child 1_170335697_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 50958240-328d-11e6-8eee-76090e01a414 10_131966717_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 131966717 A AT 300 PASS GLRX3 Ins intronic 1 8 MSH6 child 10_131966717_AAT_MSH6 1 1 - - - - Ins 5097b056-326f-11e6-b72f-e311987b3f23 19_23018079_GGTAAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 19 23018079 GGTAA G 540 PASS - Del - 4 1 NEIL1 child 19_23018079_GGTAAG_NEIL1 4 4 0 - 0 - None 509ab946-3322-11e6-91ad-40968a20d9eb 17_27998738_ACTA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 17 27998738 ACT A 660 PASS SSH2 Del intronic 2 2 EXO1 child 17_27998738_ACTA_EXO1 2 2 2 CT 1 CT Repeat-mediated 50b8ac72-328b-11e6-9996-bebd38e8a824 X_67436633_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 67436633 GA G 300 PASS OPHN1 Del intronic 1 9 NUDT1 parent X_67436633_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated 50b9bbd2-3324-11e6-a56f-7e1a2eaed38e 21_34791352_CTGTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 21 34791352 CTGT C 300 PASS IFNGR2 Del intronic 3 2 EXO1 child 21_34791352_CTGTC_EXO1 3 3 3 TGT 1 TGT Repeat-mediated 50ba9238-329c-11e6-aca6-b39fcc638e3d 2_167829664_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 167829664 AT A 900 PASS XIRP2 Del intronic 1 7 MSH6 child 2_167829664_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 50c05ffc-3273-11e6-a89b-2697ecf1e924 2_135585197_CAC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 2 135585197 CA C 547 PASS - Del - 1 7 NEIL1 child 2_135585197_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated 50c1d9ce-3258-11e6-8cd9-139b7872c165 3_56271689_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 56271689 CT C 720 PASS ERC2 Del intronic 1 9 MSH6 child 3_56271689_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 50c538dc-3292-11e6-9d24-ade56f39e758 7_81618706_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 81618706 C CA 720 PASS CACNA2D1 Ins intronic 1 0 MSH6 child 7_81618706_CCA_MSH6 1 1 - - - - Ins 50c538f0-326f-11e6-b306-b5204b47a305 2_237708624_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 237708624 TA T 420 PASS - Del - 1 8 MSH6 child 2_237708624_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 50cf5944-3322-11e6-be22-69745e975b79 1_158705022_GTG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 1 158705022 GT G 900 PASS - Del - 1 1 CHK2 parent 1_158705022_GTG_CHK2 1 1 0 - 0 T None 50df4166-328b-11e6-a7cf-80090e01a414 15_81858673_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 81858673 GT G 720 PASS CTD-2034I4.1 Del intronic 1 7 MSH6 child 15_81858673_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 50dfc1f6-3257-11e6-b4d0-327a7872c165 11_132137823_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 132137823 G GT 420 PASS NTM Ins intronic 1 7 MSH6 child 11_132137823_GGT_MSH6 1 1 - - - - Ins 50e05a3e-3285-11e6-9955-19979cdf095d 8_48241407_GTG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 48241407 GT G 600 PASS SPIDR Del intronic 1 8 POLE child 8_48241407_GTG_POLE 1 1 1 T 7 T Repeat-mediated 50e22952-32a0-11e6-a04f-c66a25c9da85 6_65497347_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 65497347 GT G 420 PASS EYS Del intronic 1 9 MSH6 child 6_65497347_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 50e4e440-329a-11e6-a5cf-205325c9da85 11_27654519_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 27654519 CT C 709 PASS LINC00678 Del intronic 1 5 MSH6 child 11_27654519_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 50eafe10-3273-11e6-bea5-e783a20b69d5 13_56784122_TCTGGGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 56784122 TCTGGG T 480 PASS - Del - 5 1 EXO1 child 13_56784122_TCTGGGT_EXO1 5 5 2 CT 0 - Microhomology-mediated 50f54410-3287-11e6-b093-c9c7b0dab373 2_236888610_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 236888610 CA C 600 PASS AGAP1 Del intronic 1 8 MSH6 child 2_236888610_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 50f78cce-3292-11e6-9230-fb250e01a414 3_81429643_TTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 81429643 T TG 480 PASS - Ins - 1 2 MSH6 child 3_81429643_TTG_MSH6 1 1 - - - - Ins 50f8fd46-328f-11e6-bd84-429305ad5bc4 1_211423658_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 211423658 A AT 540 PASS - Ins - 1 3 MSH6 child 1_211423658_AAT_MSH6 1 1 - - - - Ins 50fd3ec4-328a-11e6-ad64-7189a178171f 5_143328946_CTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 143328946 CT C 420 PASS - Del - 1 9 FANCC child 5_143328946_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 5104ec4e-3278-11e6-a391-f6d67d6a9fc7 6_51492898_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 51492898 AG A 540 PASS PKHD1 Del intronic 1 5 MSH6 child 6_51492898_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 51074cf4-3328-11e6-81bd-c0e680635058 20_22637926_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 20 22637926 CT C 300 PASS - Del - 1 7 CHK2 child 20_22637926_CTC_CHK2 1 1 1 T 6 T Repeat-mediated 51111f1e-329b-11e6-b129-195325c9da85 16_69173703_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 69173703 CT C 540 PASS CIRH1A Del intronic 1 7 MSH6 child 16_69173703_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 51121cb4-3275-11e6-acb5-bbf1bbe6aa09 7_30384942_CTC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 7 30384942 CT C 300 PASS ZNRF2 Del intronic 1 8 POLB child 7_30384942_CTC_POLB 1 1 1 T 7 T Repeat-mediated 51178f62-3277-11e6-9e0f-7959cab49462 7_124877985_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 124877985 AT A 540 PASS RP11-3B12.3 Del intronic 1 9 MSH6 child 7_124877985_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 511ba0ae-3284-11e6-9a5a-824d8e4678dd 21_40047087_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 21 40047087 AT A 360 PASS - Del - 1 8 FANCC child 21_40047087_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 511bdc58-328f-11e6-944d-00b812ae24cf 6_111651985_TAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 6 111651985 TA T 360 PASS REV3L Del intronic 1 9 CHK2 child 6_111651985_TAT_CHK2 1 1 1 A 8 A Repeat-mediated 5124c66e-326d-11e6-acc7-e55219a91649 1_75955393_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 75955393 TA T 480 PASS SLC44A5 Del intronic 1 7 MSH6 child 1_75955393_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 512eb084-329f-11e6-b696-dd6225c9da85 5_145348160_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 145348160 TA T 600 PASS SH3RF2 Del intronic 1 7 MSH6 child 5_145348160_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 51327876-328c-11e6-b4fe-93c36f39e758 12_50227115_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 50227115 CA C 540 PASS NCKAP5L Del upstream 1 9 MSH6 child 12_50227115_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5133cc6a-328e-11e6-be52-ac74fd44d094 20_8618965_GTTG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 20 8618965 GTT G 420 PASS PLCB1 Del intronic 2 3 FANCC child 20_8618965_GTTG_FANCC 2 2 1 T 0 - Microhomology-mediated 51356e32-3273-11e6-bea5-e783a20b69d5 13_56912529_GTG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 56912529 GT G 300 PASS - Del - 1 9 EXO1 child 13_56912529_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 51394f7a-3273-11e6-a0c2-ca706f39e758 17_15766654_GGA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 17 15766654 G GA 556 PASS - Ins - 1 4 NEIL1 child 17_15766654_GGA_NEIL1 1 1 - - - - Ins 515e4f46-3273-11e6-abaf-4642cab49462 6_119271568_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 119271568 GA G 360 PASS - Del - 1 7 MSH6 child 6_119271568_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 516a1a08-3271-11e6-9309-bdc34a47a305 8_109562348_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 109562348 CT C 480 PASS - Del - 1 8 MSH6 child 8_109562348_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5171a0fc-3285-11e6-8313-52c92daed38e 6_127705132_CAAC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 6 127705132 CAA C 600 PASS - Del - 2 2 POLB child 6_127705132_CAAC_POLB 2 2 0 - 0 - None 5187a8dc-3287-11e6-a284-4b89a2c71c31 4_69874524_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 69874524 CA C 540 PASS - Del - 1 7 MSH6 child 4_69874524_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 518fdd62-32a1-11e6-a04f-c66a25c9da85 6_131881566_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 131881566 AT A 780 PASS - Del - 1 8 MSH6 child 6_131881566_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5194cc2e-3273-11e6-bb8e-1d1e987b3f23 21_29946903_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 21 29946903 TA T 600 PASS AF131217.1 Del intronic 1 2 NUDT1 child 21_29946903_TAT_NUDT1 1 1 1 A 1 A Repeat-mediated 519b5196-329d-11e6-8069-175325c9da85 12_62109139_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 62109139 A AT 660 PASS FAM19A2 Ins intronic 1 7 MSH6 child 12_62109139_AAT_MSH6 1 1 - - - - Ins 51a2f094-328a-11e6-9c1f-afbe38e8a824 8_20456046_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 8 20456046 AT A 660 PASS - Del - 1 9 NUDT1 parent 8_20456046_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 51a40482-3273-11e6-b747-d9deed3c4f5d X_10580680_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA X 10580680 AT A 720 PASS MID1 Del intronic 1 6 MSH6 parent X_10580680_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 51a7f584-3277-11e6-83cd-a472a178171f 4_163133580_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 163133580 AT A 600 PASS - Del - 1 8 MSH6 child 4_163133580_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 51af6088-3274-11e6-b8ae-92c57872c165 14_47117281_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 47117281 C CA 420 PASS RPL10L Ins downstream 1 6 MSH6 child 14_47117281_CCA_MSH6 1 1 - - - - Ins 51b1fb02-328a-11e6-a80b-87090e01a414 11_65532840_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 65532840 CA C 540 PASS RP11-770G2.2 Del intronic 1 7 MSH6 child 11_65532840_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 51b5060e-3270-11e6-a202-899bcc638e3d 16_85671266_CGTTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 16 85671266 CGTT C 300 PASS GSE1 Del intronic 3 1 NEIL1 child 16_85671266_CGTTC_NEIL1 3 3 2 GT 0 - Microhomology-mediated 51c41048-3277-11e6-a71d-236235cec73b X_103995558_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 103995558 TA T 360 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_103995558_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 51d09a9a-328e-11e6-8b82-18a5e7d0bdd7 15_62607995_GTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 15 62607995 GT G 660 PASS - Del - 1 9 FANCC child 15_62607995_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 51db18f6-3286-11e6-8b67-086ea2c71c31 1_170809939_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 170809939 AT A 660 PASS - Del - 1 7 MSH6 child 1_170809939_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 51dd0daa-326d-11e6-9793-9a8fb0dab373 13_69750161_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 69750161 GA G 360 PASS - Del - 1 8 MSH6 child 13_69750161_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 51e17dc2-3272-11e6-a390-fc104530f757 1_102167472_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 102167472 AT A 360 PASS - Del - 1 9 FANCC child 1_102167472_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 51eea6be-3259-11e6-8cd9-139b7872c165 3_140754872_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 140754872 CT C 540 PASS - Del - 1 7 MSH6 child 3_140754872_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 51f7ebc0-3281-11e6-9ec5-888f1ac527ab 13_110147784_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 13 110147784 CA C 540 PASS - Del - 1 6 FANCC child 13_110147784_CAC_FANCC 1 1 1 A 5 A Repeat-mediated 51f85476-3276-11e6-83cd-a472a178171f 4_91428388_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 91428388 TA T 600 PASS CCSER1 Del intronic 1 9 MSH6 child 4_91428388_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 51f897fe-328c-11e6-b9c4-751d0e01a414 5_4952022_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 4952022 AC A 480 PASS - Del - 1 6 MSH6 child 5_4952022_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 51fe7cca-326c-11e6-acc7-e55219a91649 1_1041432_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 1041432 TA T 300 PASS C1orf159 Del 5prime_UTR_variant 1 6 MSH6 child 1_1041432_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 520a1de4-328c-11e6-8952-77c36f39e758 10_50586298_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 50586298 TA T 780 PASS DRGX Del intronic 1 9 MSH6 child 10_50586298_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 52123d54-3272-11e6-bbeb-70bd19a91649 20_19832795_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 19832795 GA G 300 PASS - Del - 1 3 MSH6 child 20_19832795_GAG_MSH6 1 1 1 A 2 A Repeat-mediated 521557d2-3281-11e6-ab87-22bd9b6d3b88 10_68483254_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 10 68483254 CA C 780 PASS CTNNA3 Del intronic 1 8 EXO1 child 10_68483254_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 52213a8e-3277-11e6-b332-88ba7d6a9fc7 15_97882508_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 97882508 A AT 420 PASS CTD-2147F2.1 Ins intronic 1 8 MSH6 child 15_97882508_AAT_MSH6 1 1 - - - - Ins 5240d17c-3273-11e6-a5d0-4fd14a47a305 2_79603946_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 79603946 AT A 437 PASS CTNNA2 Del intronic 1 6 MSH6 child 2_79603946_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 5241e9fe-3282-11e6-86cf-8f288e4678dd 10_13805238_TTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 13805238 T TC 360 PASS FRMD4A Ins intronic 1 1 FANCC child 10_13805238_TTC_FANCC 1 1 - - - - Ins 52454ade-3289-11e6-b805-77090e01a414 2_9005329_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 9005329 CT C 420 PASS MBOAT2 Del intronic 1 8 MSH6 child 2_9005329_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 524d7184-328c-11e6-ac7a-a3c36f39e758 18_53337996_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 53337996 CA C 480 PASS - Del - 1 9 MSH6 child 18_53337996_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 52580092-328f-11e6-9230-fb250e01a414 3_94434190_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 94434190 GT G 420 PASS - Del - 1 7 MSH6 child 3_94434190_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 5258cc6c-3284-11e6-9607-56b01ac527ab 4_170768388_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 170768388 TA T 300 PASS - Del - 1 9 FANCC child 4_170768388_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 525c0de8-328c-11e6-a80b-87090e01a414 11_55486147_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 55486147 A AT 300 PASS - Ins - 1 1 MSH6 child 11_55486147_AAT_MSH6 1 1 - - - - Ins 525d6cf6-326e-11e6-acc7-e55219a91649 1_160931888_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 160931888 TA T 360 PASS - Del - 1 9 MSH6 child 1_160931888_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5266467c-3283-11e6-a72f-6a393dc9300a 2_203334571_GAG . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 2 203334571 GA G 360 PASS BMPR2 Del intronic 1 7 FANCC child 2_203334571_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 526b039c-3274-11e6-a8b6-76174530f757 12_99960360_TGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 12 99960360 TG T 420 PASS ANKS1B Del intronic 1 5 EXO1 child 12_99960360_TGT_EXO1 1 1 1 G 4 G Repeat-mediated 526b3d16-327f-11e6-ac5a-c6aa3adbad45 X_133374297_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA X 133374297 AT A 900 PASS CCDC160 Del intronic 1 7 NUDT1 child X_133374297_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated 526d6088-326f-11e6-bfba-13bf4a47a305 9_94485254_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 94485254 CA C 360 PASS ROR2 Del 3prime_UTR_variant 1 7 MSH6 child 9_94485254_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 52762e0e-3277-11e6-a71d-236235cec73b X_104256672_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 104256672 TA T 660 PASS IL1RAPL2 Del intronic 1 7 MSH6 child X_104256672_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5279a80c-3292-11e6-9401-04ed6f39e758 3_165937948_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 165937948 AT A 900 PASS - Del - 1 9 MSH6 child 3_165937948_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 527bc280-3275-11e6-b96a-e20a1ea8ec0e 7_78660112_TTCATTTTAGTAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 7 78660112 TTCATTTTAGTA T 540 PASS MAGI2 Del intronic 11 1 FANCC child 7_78660112_TTCATTTTAGTAT_FANCC 11 >=10 4 TCAT 0 - Microhomology-mediated 527f71ac-3273-11e6-abaf-4642cab49462 6_119491959_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 119491959 TA T 360 PASS - Del - 1 4 MSH6 child 6_119491959_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 5285b0e6-328a-11e6-9892-02ba5d753391 5_7750753_ATTATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 5 7750753 ATTAT A 360 PASS ADCY2 Del intronic 4 2 POLE child 5_7750753_ATTATA_POLE 4 4 4 TTAT 1 TTAT Repeat-mediated 52888108-328b-11e6-a380-15ec54de4fc4 1_228603389_CAGC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 1 228603389 CAG C 300 PASS TRIM17 Del 5prime_UTR_variant 2 2 CHK2 child 1_228603389_CAGC_CHK2 2 2 2 AG 1 AG Repeat-mediated 5289b0fa-3286-11e6-a21c-b819bce6aa09 X_12052774_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 12052774 GT G 480 PASS - Del - 1 8 MSH6 child X_12052774_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 528edbb8-3324-11e6-ada1-2957fc77b11e 5_94828340_CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 5 94828340 CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA C 360 PASS TTC37 Del intronic 34 1 POLE child 5_94828340_CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAC_POLE 34 >=10 15 AAAAAAAAAAAAAAA 0 - Microhomology-mediated 529082da-3273-11e6-8fda-8f271daa6045 X_89547600_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA X 89547600 AT A 360 PASS - Del - 1 9 NUDT1 child X_89547600_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 52930702-3288-11e6-a284-4b89a2c71c31 4_164285327_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 164285327 TA T 720 PASS - Del - 1 5 MSH6 child 4_164285327_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 52b0042a-3278-11e6-9e07-80d27d6a9fc7 X_102285446_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA X 102285446 AT A 300 PASS - Del - 1 9 NEIL1 child X_102285446_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 52b55412-3290-11e6-b77c-51e2977b3f23 4_119332687_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 4 119332687 AT A 540 PASS - Del - 1 8 NEIL1 child 4_119332687_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 52b65ef6-328c-11e6-aac2-75bb5d753391 4_147236041_GACAG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 147236041 GACA G 300 PASS SLC10A7 Del intronic 3 2 POLE child 4_147236041_GACAG_POLE 3 3 3 ACA 1 ACA Repeat-mediated 52b97ffe-327e-11e6-aa5e-d58054de4fc4 18_55757648_TGT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 18 55757648 TG T 360 PASS NEDD4L Del intronic 1 1 NEIL1 child 18_55757648_TGT_NEIL1 1 1 0 - 0 G None 52bb327e-329f-11e6-91d0-016425c9da85 7_107470625_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 107470625 CT C 570 PASS - Del - 1 9 MSH6 child 7_107470625_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 52c5fa74-3254-11e6-8ebc-3ef212ae24cf 15_60766116_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 60766116 CT C 360 PASS NARG2 Del intronic 1 8 MSH6 child 15_60766116_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 52c886a8-3287-11e6-a5b3-3f1ebce6aa09 7_81269212_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 81269212 CT C 720 PASS - Del - 1 9 MSH6 child 7_81269212_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 52dd8874-3290-11e6-9d97-efe56f39e758 4_116731051_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 116731051 TA T 420 PASS - Del - 1 9 MSH6 child 4_116731051_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 52e216a2-3289-11e6-a100-84090e01a414 18_4873241_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 4873241 GA G 420 PASS RP11-172F10.1 Del intronic 1 8 MSH6 child 18_4873241_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 52e285da-3291-11e6-bfa2-581f0e01a414 7_141250660_GGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 141250660 G GC 840 PASS AGK Ins upstream 1 3 MSH6 child 7_141250660_GGC_MSH6 1 1 - - - - Ins 52ef7cda-3274-11e6-9065-cc4890e2c2e6 1_224404412_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 224404412 AT A 420 PASS - Del - 1 7 MSH6 parent 1_224404412_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 52f4cf5a-328d-11e6-919e-92c36f39e758 2_122531693_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 122531693 AT A 300 PASS - Del - 1 7 MSH6 child 2_122531693_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 52fe4aba-328f-11e6-bd84-429305ad5bc4 1_212193347_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 212193347 C CA 660 PASS INTS7 Ins intronic 1 6 MSH6 child 1_212193347_CCA_MSH6 1 1 - - - - Ins 53015eb0-3273-11e6-9e18-3a69671699ea 10_67658711_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 67658711 GA G 300 PASS - Del - 1 4 MSH6 child 10_67658711_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 53032c9a-327d-11e6-89da-51be4dc77248 15_77159176_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 15 77159176 AT A 540 PASS SCAPER Del upstream 1 9 NUDT1 child 15_77159176_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 5304f0fa-3275-11e6-a76d-26961565c797 1_204525925_GTG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 204525925 GT G 600 PASS MDM4 Del 3prime_UTR_variant 1 9 EXO1 child 1_204525925_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 5309d900-3287-11e6-b611-f56e3adbad45 11_40558245_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 11 40558245 CT C 360 PASS LRRC4C Del intronic 1 9 NUDT1 parent 11_40558245_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 5309e00a-3285-11e6-a8af-066ea2c71c31 15_67855961_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 67855961 AT A 780 PASS MAP2K5 Del intronic 1 6 MSH6 child 15_67855961_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 530a29c8-3255-11e6-b4d0-327a7872c165 11_121635753_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 121635753 CT C 420 PASS - Del - 1 8 MSH6 child 11_121635753_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5310499c-3292-11e6-b0cf-8b7219a91649 7_129502650_TGT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 129502650 TG T 840 PASS UBE2H Del intronic 1 7 NEIL1 child 7_129502650_TGT_NEIL1 1 1 1 G 6 G Repeat-mediated 531f873e-3271-11e6-b89d-b2d6b0dab373 4_124704919_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 124704919 GA G 780 PASS LINC01091 Del intronic 1 9 MSH6 child 4_124704919_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 532252ac-3280-11e6-a2c9-149290e2c2e6 3_46225762_ACACA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 46225762 ACAC A 360 PASS CCR3 Del intronic 3 1 NUDT1 child 3_46225762_ACACA_NUDT1 3 3 2 CA 0 - Microhomology-mediated 53266d58-32a1-11e6-aea7-956725c9da85 3_190103445_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 190103445 AT A 300 PASS CLDN16 Del upstream 1 6 MSH6 child 3_190103445_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 532a94bc-3285-11e6-821e-69f1bbe6aa09 16_82316406_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 82316406 CA C 420 PASS - Del - 1 5 MSH6 child 16_82316406_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 533066c4-3255-11e6-a304-347a7872c165 1_115847482_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 115847482 CT C 540 PASS NGF Del intronic 1 6 MSH6 child 1_115847482_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 5339a9b6-3285-11e6-a8af-066ea2c71c31 15_67872110_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 67872110 TA T 1080 PASS MAP2K5 Del intronic 1 9 MSH6 child 15_67872110_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 533d8c64-3282-11e6-a72f-6a393dc9300a 2_79830705_AGA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 2 79830705 AG A 660 PASS CTNNA2 Del intronic 1 1 FANCC child 2_79830705_AGA_FANCC 1 1 0 - 0 G None 5343c1a2-3290-11e6-bcba-4aab4430f757 2_114695011_CCA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 2 114695011 C CA 360 PASS ACTR3 Ins intronic 1 0 POLE child 2_114695011_CCA_POLE 1 1 - - - - Ins 53456de4-3255-11e6-8ebc-3ef212ae24cf 15_79901847_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 79901847 TA T 780 PASS - Del - 1 3 MSH6 child 15_79901847_TAT_MSH6 1 1 1 A 2 A Repeat-mediated 53490afe-3259-11e6-8cd9-139b7872c165 3_141244660_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 141244660 TA T 300 PASS RASA2 Del intronic 1 8 MSH6 child 3_141244660_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 534d0c60-3292-11e6-9413-6a7219a91649 5_138858995_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 138858995 TA T 360 PASS TMEM173 Del intronic 1 9 NEIL1 child 5_138858995_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 534e9606-328e-11e6-bfa2-581f0e01a414 7_98772830_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 98772830 AT A 480 PASS KPNA7 Del intronic 1 8 MSH6 child 7_98772830_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5356a9ea-3289-11e6-b9eb-c78fa2c71c31 6_149304590_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 149304590 GA G 480 PASS UST Del intronic 1 9 MSH6 child 6_149304590_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5356deba-328e-11e6-ace9-29a5e7d0bdd7 16_48561596_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 16 48561596 CT C 360 PASS - Del - 1 8 FANCC child 16_48561596_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 5366b84c-328b-11e6-a653-2591e7d0bdd7 1_89847039_ATA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 1 89847039 AT A 960 PASS GBP6 Del intronic 1 6 POLM child 1_89847039_ATA_POLM 1 1 1 T 5 T Repeat-mediated 536f4f54-32a2-11e6-aea7-956725c9da85 3_49300664_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 49300664 G GT 360 PASS - Ins - 1 7 MSH6 child 3_49300664_GGT_MSH6 1 1 - - - - Ins 536fe536-327a-11e6-8a64-801e9a696edf 3_133854195_CAGC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 3 133854195 CAG C 480 PASS - Del - 2 3 POLM child 3_133854195_CAGC_POLM 2 2 2 AG 2 AG Repeat-mediated 53872324-3282-11e6-8500-13197e6a9fc7 1_164885253_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 1 164885253 TA T 780 PASS - Del - 1 9 POLB child 1_164885253_TAT_POLB 1 1 1 A 8 A Repeat-mediated 53878d24-326d-11e6-acc7-e55219a91649 1_76986983_TACT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 76986983 TAC T 300 PASS ST6GALNAC3 Del intronic 2 6 MSH6 child 1_76986983_TACT_MSH6 2 2 2 AC 5 AC Repeat-mediated 538b1010-3291-11e6-9d97-efe56f39e758 4_181595328_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 181595328 GA G 360 PASS - Del - 1 8 MSH6 child 4_181595328_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5393994e-3271-11e6-81c8-19f506e9a829 2_34671651_AGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 34671651 AG A 300 PASS AC073218.1 Del intronic 1 1 FANCC child 2_34671651_AGA_FANCC 1 1 0 - 0 G None 5396a464-32a2-11e6-bc2c-2a5e25c9da85 4_153237708_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 153237708 A AT 600 PASS FBXW7 Ins downstream 1 8 MSH6 child 4_153237708_AAT_MSH6 1 1 - - - - Ins 53be9734-3285-11e6-a8ad-04770d016689 9_14821290_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 14821290 TA T 360 PASS FREM1 Del intronic 1 9 EXO1 child 9_14821290_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 53bedd7a-3285-11e6-a722-38d09b6d3b88 3_124143107_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 124143107 AT A 720 PASS KALRN Del intronic 1 9 EXO1 child 3_124143107_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 53c35cdc-329f-11e6-a04f-c66a25c9da85 6_8792187_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 8792187 AC A 540 PASS - Del - 1 5 MSH6 child 6_8792187_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 53dcd668-3285-11e6-b293-6ca635cec73b 11_121171853_ACTA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 11 121171853 ACT A 360 PASS SC5D Del intronic 2 4 POLE child 11_121171853_ACTA_POLE 2 2 2 CT 3 CT Repeat-mediated 53de3a12-328a-11e6-a284-4b89a2c71c31 4_156629413_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 156629413 G GA 360 PASS GUCY1A3 Ins frameshift 1 5 MSH6 child 4_156629413_GGA_MSH6 1 1 - - - - Ins 53e51f94-3276-11e6-83cd-a472a178171f 4_91977852_ACTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 91977852 ACT A 540 PASS CCSER1 Del intronic 2 2 MSH6 child 4_91977852_ACTA_MSH6 2 2 2 CT 1 CT Repeat-mediated 53e6954c-3274-11e6-bfb2-2749c225ee11 12_128064119_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 128064119 GA G 540 PASS - Del - 1 9 MSH6 child 12_128064119_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 53efe3b2-3289-11e6-bbaf-7c090e01a414 19_4451621_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 4451621 GA G 360 PASS UBXN6 Del intronic 1 7 MSH6 child 19_4451621_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 53f3d6dc-3277-11e6-9e0f-7959cab49462 7_125400964_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 125400964 TA T 480 PASS - Del - 1 6 MSH6 child 7_125400964_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 53f9e160-32a1-11e6-a04f-c66a25c9da85 6_132769819_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 132769819 CA C 600 PASS STX7 Del 3prime_UTR_variant 1 7 MSH6 child 6_132769819_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 53fcc2a8-328e-11e6-b805-77090e01a414 2_71770827_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 71770827 C CA 378 PASS DYSF Ins intronic 1 6 MSH6 child 2_71770827_CCA_MSH6 1 1 - - - - Ins 54017c94-3270-11e6-b89d-b2d6b0dab373 4_54987594_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 54987594 CT C 660 PASS - Del - 1 8 MSH6 child 4_54987594_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5404d32a-3276-11e6-83cd-a472a178171f 4_92055249_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 92055249 CA C 360 PASS CCSER1 Del intronic 1 7 MSH6 child 4_92055249_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 540592b4-326d-11e6-b2ac-b6204b47a305 17_41993565_GCG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 41993565 GC G 420 PASS FAM215A Del upstream 1 6 MSH6 child 17_41993565_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 54101602-3291-11e6-8d00-b1b0e7d0bdd7 5_103039167_ATGATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 103039167 ATGAT A 360 PASS - Del - 4 1 FANCC child 5_103039167_ATGATA_FANCC 4 4 2 TG 0 - Microhomology-mediated 54236e8e-3271-11e6-9309-bdc34a47a305 8_110900841_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 110900841 CT C 540 PASS - Del - 1 9 MSH6 child 8_110900841_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 542b2fe2-3272-11e6-91a3-999a9cdf095d 11_41877865_GTCATTCG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 11 41877865 GTCATTC G 300 PASS RP11-375D13.4 Del upstream 6 1 NUDT1 child 11_41877865_GTCATTCG_NUDT1 6 6 1 T 0 - Microhomology-mediated 54303f50-3321-11e6-a903-ae0342c4520d 13_73359017_TGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 13 73359017 TG T 780 PASS DIS3 Del upstream 1 1 EXO1 child 13_73359017_TGT_EXO1 1 1 0 - 0 G None 54425c90-328f-11e6-b805-77090e01a414 2_147252555_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 147252555 A AT 360 PASS - Ins - 1 1 MSH6 child 2_147252555_AAT_MSH6 1 1 - - - - Ins 5444ddf2-3290-11e6-9401-04ed6f39e758 3_24021826_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 24021826 AT A 720 PASS NR1D2 Del 3prime_UTR_variant 1 7 MSH6 child 3_24021826_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 545503b4-3289-11e6-9c89-8d090e01a414 1_7648441_CGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 7648441 CG C 300 PASS CAMTA1 Del intronic 1 5 MSH6 child 1_7648441_CGC_MSH6 1 1 1 G 4 G Repeat-mediated 545c4d18-3289-11e6-865d-6e96cdacbbbf 19_22813783_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 19 22813783 GA G 480 PASS ZNF492 Del upstream 1 7 FANCC child 19_22813783_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 546293da-328e-11e6-b10a-17a5e7d0bdd7 1_50388428_GGGAGGTAAAAAATCTCTACAAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 1 50388428 GGGAGGTAAAAAATCTCTACAA G 480 PASS AGBL4 Del intronic 21 1 FANCC child 1_50388428_GGGAGGTAAAAAATCTCTACAAG_FANCC 21 >=10 4 GGAG 0 - Microhomology-mediated 54692e94-3328-11e6-868e-d16670cce0de 6_97887255_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 97887255 AT A 300 PASS - Del - 1 6 EXO1 child 6_97887255_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 546a97a6-3275-11e6-bb72-cbe0f6d33ce3 1_81538965_AAAGA . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 1 81538965 AAAG A 420 PASS - Del - 3 2 POLM child 1_81538965_AAAGA_POLM 3 3 3 AAG 1 AAG Repeat-mediated 546ea20e-3286-11e6-b1ba-6def1da8ec0e 1_198192954_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 198192954 AT A 480 PASS NEK7 Del intronic 1 8 EXO1 child 1_198192954_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 547794c0-329c-11e6-aca6-b39fcc638e3d 2_169015574_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 169015574 TA T 780 PASS STK39 Del intronic 1 9 MSH6 child 2_169015574_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 548a8180-3273-11e6-af89-7600ebb8d062 5_138487499_GAG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 5 138487499 GA G 300 PASS SIL1 Del intronic 1 9 NUDT1 child 5_138487499_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated 5491a832-3275-11e6-b6cd-6bb47098ee92 21_43441416_ATCTCATGTGTA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 21 43441416 ATCTCATGTGT A 360 PASS ZNF295-AS1 Del upstream 10 1 FANCC child 21_43441416_ATCTCATGTGTA_FANCC 10 >=10 3 TCT 0 - Microhomology-mediated 54aabf1a-328f-11e6-9230-fb250e01a414 3_94891787_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 94891787 CT C 300 PASS - Del - 1 9 MSH6 child 3_94891787_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 54aadcfa-326e-11e6-9003-ae204b47a305 19_17848091_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 17848091 C CT 420 PASS MAP1S Ins downstream 1 8 MSH6 child 19_17848091_CCT_MSH6 1 1 - - - - Ins 54b0852c-325c-11e6-8cd9-139b7872c165 3_153604440_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 153604440 C CA 360 PASS RP11-217E22.5 Ins intronic 1 6 MSH6 child 3_153604440_CCA_MSH6 1 1 - - - - Ins 54b17906-32a1-11e6-b696-dd6225c9da85 5_94395307_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 94395307 C CA 480 PASS MCTP1 Ins intronic 1 7 MSH6 child 5_94395307_CCA_MSH6 1 1 - - - - Ins 54b4cc44-32a3-11e6-bc66-17b4cc638e3d 8_137602829_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 137602829 C CT 360 PASS RP11-30J20.1 Ins intronic 1 9 MSH6 child 8_137602829_CCT_MSH6 1 1 - - - - Ins 54b66caa-3278-11e6-9e4c-96041ea8ec0e 5_138410701_AAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 5 138410701 A AT 420 PASS SIL1 Ins intronic 1 0 FANCC child 5_138410701_AAT_FANCC 1 1 - - - - Ins 54c1522c-329c-11e6-a0ea-135325c9da85 15_94375740_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 94375740 CA C 420 PASS CTD-3049M7.1 Del intronic 1 9 MSH6 child 15_94375740_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 54c53710-3275-11e6-83cd-a472a178171f 4_15079736_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 15079736 CT C 480 PASS - Del - 1 7 MSH6 child 4_15079736_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 54c91d32-329b-11e6-8876-266aa178171f 3_151731331_CCG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 3 151731331 C CG 360 PASS - Ins - 1 1 NEIL1 child 3_151731331_CCG_NEIL1 1 1 - - - - Ins 54ca121e-3287-11e6-a21c-b819bce6aa09 X_66441778_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 66441778 CA C 360 PASS - Del - 1 8 MSH6 child X_66441778_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 54cae3e6-328d-11e6-aa75-90c36f39e758 13_32261477_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 32261477 A AT 480 PASS - Ins - 1 4 MSH6 child 13_32261477_AAT_MSH6 1 1 - - - - Ins 54e4d2ee-328b-11e6-b805-77090e01a414 2_138551129_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 138551129 AT A 300 PASS - Del - 1 7 MSH6 child 2_138551129_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 54e4e8c6-3289-11e6-b805-77090e01a414 2_9757390_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 9757390 CA C 900 PASS YWHAQ Del intronic 1 7 MSH6 child 2_9757390_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 54e7578c-329d-11e6-ae71-0c5325c9da85 1_202438374_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 202438374 CT C 660 PASS PPP1R12B Del intronic 1 8 MSH6 child 1_202438374_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 54f4f4a6-3292-11e6-8371-bc370d016689 15_67982364_ATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 15 67982364 AT A 300 PASS MAP2K5 Del intronic 1 8 NUDT1 child 15_67982364_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 54fa3ffc-3273-11e6-a8b6-76174530f757 12_31496018_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 12 31496018 AT A 300 PASS - Del - 1 5 EXO1 child 12_31496018_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 54ff1e82-3273-11e6-9e18-3a69671699ea 10_68361036_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 68361036 GA G 780 PASS CTNNA3 Del intronic 1 8 MSH6 child 10_68361036_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5501dbb2-328d-11e6-bd84-429305ad5bc4 1_241591197_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 241591197 CA C 540 PASS RP11-527D7.1 Del intronic 1 7 MSH6 child 1_241591197_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 550e42ea-329b-11e6-8069-175325c9da85 12_88436702_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 88436702 GT G 540 PASS C12orf29 Del splice_region 1 9 MSH6 child 12_88436702_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 551051f4-3294-11e6-bbbd-3e3a7a852e0e 21_39093384_CAC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 21 39093384 CA C 407 PASS KCNJ6 Del intronic 1 6 CHK2 child 21_39093384_CAC_CHK2 1 1 1 A 5 A Repeat-mediated 551b75a6-3290-11e6-9432-c0e56f39e758 5_123850269_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 123850269 CT C 840 PASS CTD-2308B18.3 Del intronic 1 6 MSH6 child 5_123850269_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 551e95b8-3323-11e6-9b97-aa021daa6045 19_35906471_GTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 19 35906471 GT G 960 PASS AC002511.1 Del intronic 1 1 EXO1 child 19_35906471_GTG_EXO1 1 1 0 - 0 T None 55260944-329f-11e6-a04f-c66a25c9da85 6_9134708_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 9134708 AT A 660 PASS RP11-354I10.1 Del intronic 1 9 MSH6 child 6_9134708_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 552f5bb2-3271-11e6-9309-bdc34a47a305 8_111294184_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 111294184 CA C 360 PASS - Del - 1 9 MSH6 child 8_111294184_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 55383234-328d-11e6-9c89-8d090e01a414 1_239676448_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 239676448 GT G 420 PASS - Del - 1 5 MSH6 child 1_239676448_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 554f4306-328e-11e6-919e-92c36f39e758 2_191448774_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 191448774 CA C 720 PASS - Del - 1 5 MSH6 child 2_191448774_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 55577be2-328a-11e6-a19d-3c763adbad45 4_156224976_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 156224976 GA G 540 PASS - Del - 1 9 NUDT1 parent 4_156224976_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated 5557feac-3292-11e6-b77d-2eef6f39e758 6_125734939_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 125734939 GA G 600 PASS - Del - 1 8 MSH6 child 6_125734939_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5561adcc-3255-11e6-bc65-c9667872c165 13_52135594_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 52135594 G GT 300 PASS RNU6-65P Ins upstream 1 5 MSH6 child 13_52135594_GGT_MSH6 1 1 - - - - Ins 55638e54-3272-11e6-8a8e-99db12ae24cf 1_78971333_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 1 78971333 AT A 900 PASS PTGFR Del intronic 1 8 NEIL1 child 1_78971333_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 55700dfe-3287-11e6-8734-49a538e8a824 15_40229808_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 15 40229808 GT G 420 PASS EIF2AK4 Del intronic 1 8 NUDT1 parent 15_40229808_GTG_NUDT1 1 1 1 T 7 T Repeat-mediated 5571f192-3326-11e6-8a20-9a0d75253f64 9_127039787_TTG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 9 127039787 T TG 360 PASS NEK6 Ins intronic 1 0 CHK2 child 9_127039787_TTG_CHK2 1 1 - - - - Ins 5572e1bc-3270-11e6-a539-0e5542c4520d 7_97348252_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 97348252 CA C 420 PASS - Del - 1 9 MSH6 child 7_97348252_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 55764bd0-328f-11e6-ad16-6b56f0f7a29c 10_94800016_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 10 94800016 CT C 600 PASS EXOC6 Del intronic 1 8 NEIL1 child 10_94800016_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated 557739dc-328f-11e6-a1a1-958e3adbad45 11_97546008_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 11 97546008 TA T 360 PASS - Del - 1 9 NEIL1 child 11_97546008_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 55883db6-3296-11e6-8669-5f48a178171f 15_75374578_AAT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 15 75374578 A AT 300 PASS - Ins - 1 5 NEIL1 child 15_75374578_AAT_NEIL1 1 1 - - - - Ins 558b2262-327b-11e6-a391-f6d67d6a9fc7 6_85750594_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 85750594 C CA 300 PASS - Ins - 1 1 MSH6 child 6_85750594_CCA_MSH6 1 1 - - - - Ins 558c2752-3285-11e6-a309-3c0f147bb207 22_50225384_ACCTTGATCCAGGA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 22 50225384 ACCTTGATCCAGG A 480 PASS RP3-522J7.6 Del downstream 12 1 FANCC child 22_50225384_ACCTTGATCCAGGA_FANCC 12 >=10 1 C 0 - Microhomology-mediated 558de3c8-3288-11e6-a8ac-a28ea2c71c31 3_63921929_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 63921929 AT A 480 PASS ATXN7 Del intronic 1 9 MSH6 child 3_63921929_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 558ffbc6-3324-11e6-a066-657f12ae24cf X_88668445_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA X 88668445 AT A 389 PASS - Del - 1 8 POLE child X_88668445_ATA_POLE 1 1 1 T 7 T Repeat-mediated 559063b8-329d-11e6-ae71-0c5325c9da85 1_202643150_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 202643150 AT A 780 PASS SYT2 Del intronic 1 8 MSH6 child 1_202643150_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 559a27fa-328d-11e6-bfa2-581f0e01a414 7_39722244_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 39722244 CT C 360 PASS RALA Del intronic 1 9 MSH6 child 7_39722244_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 55a92950-3286-11e6-8b67-086ea2c71c31 1_172630907_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 172630907 TA T 420 PASS FASLG Del intronic 1 9 MSH6 child 1_172630907_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 55b0a604-328a-11e6-a94a-059612ae24cf 19_48827599_ACA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 19 48827599 AC A 420 PASS CCDC114 Del upstream 1 1 CHK2 child 19_48827599_ACA_CHK2 1 1 0 - 0 C None 55b110dc-3274-11e6-bf33-43b638e8a824 4_189651739_GTG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 4 189651739 GT G 300 PASS - Del - 1 8 NEIL1 child 4_189651739_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated 55b5af96-3271-11e6-9f1d-8260f7be831b 14_69862987_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 14 69862987 AT A 840 PASS SLC39A9 Del upstream 1 9 CHK2 child 14_69862987_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 55b8e854-329a-11e6-8069-175325c9da85 12_26905546_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 26905546 TA T 660 PASS ITPR2 Del intronic 1 6 MSH6 child 12_26905546_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 55baf996-3272-11e6-bbeb-70bd19a91649 20_21840672_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 21840672 CA C 300 PASS - Del - 1 8 MSH6 child 20_21840672_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 55c11ff6-328b-11e6-8736-3591e7d0bdd7 10_80492909_CTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 10 80492909 CT C 600 PASS - Del - 1 6 POLM child 10_80492909_CTC_POLM 1 1 1 T 5 T Repeat-mediated 55c64eb0-3270-11e6-b89d-b2d6b0dab373 4_55346003_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 55346003 GA G 480 PASS - Del - 1 8 MSH6 child 4_55346003_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 55cef0b6-328d-11e6-b8e6-91c36f39e758 11_119213687_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 119213687 TG T 960 PASS MFRP Del frameshift 1 7 MSH6 child 11_119213687_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 55d12746-3323-11e6-91b9-d71a8977c0b2 8_42801741_CTTGC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 8 42801741 CTTG C 540 PASS HOOK3 Del intronic 3 2 CHK2 parent 8_42801741_CTTGC_CHK2 3 3 3 TTG 1 TTG Repeat-mediated 55d506fa-326e-11e6-9d68-ac9acab49462 15_79151024_CTTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 79151024 CTT C 1140 PASS - Del - 2 3 MSH6 child 15_79151024_CTTC_MSH6 2 2 1 T 0 - Microhomology-mediated 55e625dc-327f-11e6-9176-77c54dc77248 5_143019098_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 5 143019098 CT C 720 PASS - Del - 1 9 NUDT1 child 5_143019098_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 55e74188-328e-11e6-9230-fb250e01a414 3_30073945_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 30073945 GT G 840 PASS - Del - 1 7 MSH6 child 3_30073945_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 55e8c8c0-3278-11e6-9e0f-7959cab49462 7_24337696_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 24337696 G GT 420 PASS - Ins - 1 7 MSH6 child 7_24337696_GGT_MSH6 1 1 - - - - Ins 55e9e29a-328d-11e6-8106-81c36f39e758 19_28940960_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 28940960 G GT 600 PASS AC005307.3 Ins intronic 1 8 MSH6 child 19_28940960_GGT_MSH6 1 1 - - - - Ins 55e9f314-3325-11e6-8527-5503694da5d2 X_85754475_TTTAGCCTAATATCTTCAGCTTATAATTATAGAGAGAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA X 85754475 TTTAGCCTAATATCTTCAGCTTATAATTATAGAGAGA T 360 PASS DACH2 Del intronic 36 1 EXO1 child X_85754475_TTTAGCCTAATATCTTCAGCTTATAATTATAGAGAGAT_EXO1 36 >=10 1 T 0 - Microhomology-mediated 55f2af7a-328c-11e6-b9c4-751d0e01a414 5_6339584_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 6339584 CA C 360 PASS CTD-2324F15.2 Del upstream 1 9 MSH6 child 5_6339584_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 55f8b8e4-3286-11e6-8e86-a8fc137bb207 8_126433893_ACACTTTGGGAGGCTGAGGTGGGCGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGACAACATGGCAAAAACCCATCTTTACTAAAAATACAAAAAATAGCTGGGCATGCTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATCGCTTGAAACCGGAAGGCAGAGGTTGCAGGGAGCTGAGATCTCATCACAGCACTCCAGCCGAGGTGACAGGGTGAGACCCTGCCACACACACAAAAAAAACAAAAACAAGCAAACAAAAAACATTTTACGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 8 126433893 ACACTTTGGGAGGCTGAGGTGGGCGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGACAACATGGCAAAAACCCATCTTTACTAAAAATACAAAAAATAGCTGGGCATGCTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATCGCTTGAAACCGGAAGGCAGAGGTTGCAGGGAGCTGAGATCTCATCACAGCACTCCAGCCGAGGTGACAGGGTGAGACCCTGCCACACACACAAAAAAAACAAAAACAAGCAAACAAAAAACATTTTACGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAG A 267 PASS - Del - 324 1 FANCC child 8_126433893_ACACTTTGGGAGGCTGAGGTGGGCGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGACAACATGGCAAAAACCCATCTTTACTAAAAATACAAAAAATAGCTGGGCATGCTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATCGCTTGAAACCGGAAGGCAGAGGTTGCAGGGAGCTGAGATCTCATCACAGCACTCCAGCCGAGGTGACAGGGTGAGACCCTGCCACACACACAAAAAAAACAAAAACAAGCAAACAAAAAACATTTTACGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGA_FANCC 324 >=10 27 CACTTTGGGAGGCTGAGGTGGGCGGAT 0 - Microhomology-mediated 55f8f9f8-3290-11e6-bd26-49b0e7d0bdd7 7_16827614_TTTCT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 7 16827614 TTTC T 360 PASS TSPAN13 Del downstream 3 3 FANCC child 7_16827614_TTTCT_FANCC 3 3 3 TTC 2 TTC Repeat-mediated 55fb78f6-3284-11e6-91c1-9ac3b0dab373 21_16441625_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 21 16441625 TA T 660 PASS NRIP1 Del upstream 1 8 POLE parent 21_16441625_TAT_POLE 1 1 1 A 7 A Repeat-mediated 560d7d40-3274-11e6-88b6-40832aaffa45 1_77313016_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 77313016 CT C 420 PASS - Del - 1 7 EXO1 child 1_77313016_CTC_EXO1 1 1 1 T 6 T Repeat-mediated 560e054c-328a-11e6-b9eb-c78fa2c71c31 6_68255655_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 68255655 T TA 300 PASS RNU6-280P Ins upstream 1 8 MSH6 child 6_68255655_TTA_MSH6 1 1 - - - - Ins 56109db2-327f-11e6-9a18-69cfaa716c52 4_103635567_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 4 103635567 GA G 480 PASS MANBA Del intronic 1 9 POLB parent 4_103635567_GAG_POLB 1 1 1 A 8 A Repeat-mediated 5612e9c8-3275-11e6-9522-b51a987b3f23 12_128691422_GGT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 12 128691422 G GT 300 PASS - Ins - 1 5 NUDT1 child 12_128691422_GGT_NUDT1 1 1 - - - - Ins 56178d96-329f-11e6-a04f-c66a25c9da85 6_9409206_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 9409206 GT G 420 PASS - Del - 1 7 MSH6 child 6_9409206_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 562c4796-3258-11e6-9d15-298312ae24cf X_122217789_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 122217789 CA C 360 PASS - Del - 1 9 MSH6 child X_122217789_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 563036de-328b-11e6-b805-77090e01a414 2_138919275_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 138919275 TA T 480 PASS - Del - 1 6 MSH6 child 2_138919275_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 56311c7a-3272-11e6-940c-da0fead19ece 11_57542046_GTAAAACTGGCCCAAAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 11 57542046 GTAAAACTGGCCCAAA G 600 PASS CTNND1 Del intronic 15 1 NEIL1 child 11_57542046_GTAAAACTGGCCCAAAG_NEIL1 15 >=10 3 TAA 0 - Microhomology-mediated 56423394-3285-11e6-913b-f60d51c54cdd 19_2801974_CCA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 19 2801974 C CA 660 PASS THOP1 Ins intronic 1 1 EXO1 child 19_2801974_CCA_EXO1 1 1 - - - - Ins 564332b6-328b-11e6-b805-77090e01a414 2_138933295_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 138933295 GA G 300 PASS - Del - 1 9 MSH6 child 2_138933295_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 564a3b10-3272-11e6-8f33-a6d9cde16804 11_873749_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 873749 CT C 840 PASS CHID1 Del intronic 1 7 MSH6 child 11_873749_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 564f1752-329a-11e6-8069-175325c9da85 12_27002407_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 27002407 GA G 660 PASS - Del - 1 8 MSH6 child 12_27002407_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 565d1e56-3281-11e6-845d-6b29bce6aa09 X_5650177_AAGTAGGTGTTAAAAAGTAAAATGTGGGCCAGGCGCAGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATTGCCTGAGGTCAGGAGTTCGAGACCA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA X 5650177 AAGTAGGTGTTAAAAAGTAAAATGTGGGCCAGGCGCAGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATTGCCTGAGGTCAGGAGTTCGAGACC A 420 PASS - Del - 111 1 POLM child X_5650177_AAGTAGGTGTTAAAAAGTAAAATGTGGGCCAGGCGCAGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATTGCCTGAGGTCAGGAGTTCGAGACCA_POLM 111 >=10 3 AGT 0 - Microhomology-mediated 56676bc2-328b-11e6-a75f-859bcdacbbbf 9_113734923_GGATACTTG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 9 113734923 GGATACTT G 300 PASS LPAR1 Del intronic 7 1 FANCC child 9_113734923_GGATACTTG_FANCC 7 7 2 GA 0 - Microhomology-mediated 566e2604-3323-11e6-8ccd-5c056323ba5a 2_116432926_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 116432926 TA T 720 PASS DPP10 Del intronic 1 9 EXO1 child 2_116432926_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 566f6196-326e-11e6-9d68-ac9acab49462 15_79168286_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 79168286 GT G 300 PASS MORF4L1 Del intronic 1 7 MSH6 child 15_79168286_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 56a52d32-3285-11e6-8b67-086ea2c71c31 1_76720397_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 76720397 GT G 420 PASS ST6GALNAC3 Del intronic 1 8 MSH6 child 1_76720397_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 56b3c45e-328b-11e6-9539-3490a178171f 3_144062868_CTGC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 144062868 CTG C 480 PASS - Del - 2 2 FANCC child 3_144062868_CTGC_FANCC 2 2 2 TG 1 TG Repeat-mediated 56b72e60-3276-11e6-ab69-1c1607e9a829 9_131496059_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 131496059 CT C 420 PASS ZER1 Del intronic 1 8 MSH6 child 9_131496059_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 56bb477e-329f-11e6-bc2c-2a5e25c9da85 4_156807241_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 156807241 TA T 420 PASS - Del - 1 5 MSH6 child 4_156807241_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 56c1f39e-329a-11e6-ae71-0c5325c9da85 1_23822576_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 23822576 TA T 300 PASS - Del - 1 8 MSH6 child 1_23822576_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 56c6db26-328f-11e6-8508-9ba45d753391 20_51997389_CATTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 20 51997389 CATT C 300 PASS TSHZ2 Del intronic 3 1 POLE child 20_51997389_CATTC_POLE 3 3 2 AT 0 - Microhomology-mediated 56cb0f08-328e-11e6-ab9a-705238e8a824 18_58107730_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 18 58107730 TA T 300 PASS - Del - 1 6 FANCC child 18_58107730_TAT_FANCC 1 1 1 A 5 A Repeat-mediated 56ddde22-3274-11e6-a8b6-76174530f757 12_101264296_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 12 101264296 AT A 600 PASS ANO4 Del intronic 1 9 EXO1 child 12_101264296_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 56df43a6-3298-11e6-a210-6a27c7271a47 X_4279872_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA X 4279872 AT A 300 PASS - Del - 1 8 CHK2 child X_4279872_ATA_CHK2 1 1 1 T 7 T Repeat-mediated 56e14306-328c-11e6-a2c2-fa8aa178171f 8_33754039_TTGACC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 8 33754039 T TGACC 300 PASS RP11-317N12.1 Ins intronic 4 0 FANCC child 8_33754039_TTGACC_FANCC 4 4 - - - - Ins 56efebb0-3276-11e6-8c34-46e27872c165 5_65452406_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 65452406 GT G 480 PASS SREK1 Del intronic 1 7 MSH6 child 5_65452406_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 56f6ce7e-3296-11e6-9b8b-c9bbf530df36 20_47897230_CTGAC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 20 47897230 CTGA C 1320 PASS ZNFX1 Del upstream 3 2 POLB child 20_47897230_CTGAC_POLB 3 3 3 TGA 1 TGA Repeat-mediated 56f91a92-328e-11e6-bfa2-581f0e01a414 7_99714105_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 99714105 TA T 360 PASS TAF6 Del intronic 1 7 MSH6 child 7_99714105_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 56f9ac28-3284-11e6-870e-6af1bbe6aa09 19_997895_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 997895 CA C 480 PASS GRIN3B Del upstream 1 6 MSH6 child 19_997895_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 56f9d652-328a-11e6-bb2d-24a320e7b7a8 X_23926183_CTGC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA X 23926183 CTG C 420 PASS CXorf58 Del 5prime_UTR_variant 2 1 POLE child X_23926183_CTGC_POLE 2 2 1 T 0 - Microhomology-mediated 56fa5c0e-3270-11e6-81de-443e72d7bc54 2_175723572_TAGAAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 2 175723572 TAGAA T 720 PASS CHN1 Del intronic 4 1 POLM child 2_175723572_TAGAAT_POLM 4 4 2 AG 0 - Microhomology-mediated 5705c36c-3277-11e6-a47c-77abeab8d062 5_75372379_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 75372379 AT A 540 PASS - Del - 1 9 EXO1 child 5_75372379_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 57085108-3273-11e6-8f33-a6d9cde16804 11_85640448_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 85640448 GA G 360 PASS - Del - 1 9 MSH6 child 11_85640448_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 570aafcc-3280-11e6-8597-c8186ee4ab00 8_42196157_GGCGCCG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 8 42196157 GGCGCC G 960 PASS POLB Del frameshift 5 1 POLB parent 8_42196157_GGCGCCG_POLB 5 5 2 GC 0 - Microhomology-mediated 57272b3a-3289-11e6-b32c-fd87a2c71c31 5_166749608_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 166749608 C CT 360 PASS TENM2 Ins intronic 1 8 MSH6 child 5_166749608_CCT_MSH6 1 1 - - - - Ins 572d4484-328e-11e6-bfac-a2a9cdacbbbf 11_97166989_TTGT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 11 97166989 TTG T 525 PASS - Del - 2 7 POLB child 11_97166989_TTGT_POLB 2 2 2 TG 6 TG Repeat-mediated 572d5734-3276-11e6-9019-27a01da8ec0e 6_25194012_GAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 6 25194012 GA G 300 PASS - Del - 1 9 FANCC child 6_25194012_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 5730c96e-328f-11e6-8e48-791e0e01a414 8_119813888_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 119813888 CA C 480 PASS - Del - 1 9 MSH6 child 8_119813888_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 573916de-3274-11e6-b776-ad832aaffa45 13_102768705_GGTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 13 102768705 GGT G 420 PASS FGF14 Del intronic 2 5 EXO1 child 13_102768705_GGTG_EXO1 2 2 2 GT 4 GT Repeat-mediated 573c712c-326e-11e6-b306-b5204b47a305 2_153989244_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 153989244 AT A 300 PASS - Del - 1 7 MSH6 child 2_153989244_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5748338e-329d-11e6-ae71-0c5325c9da85 1_202856485_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 202856485 AT A 360 PASS KLHL12 Del downstream 1 9 MSH6 child 1_202856485_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 57495d6a-3273-11e6-abaf-4642cab49462 6_121183982_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 121183982 CA C 300 PASS - Del - 1 7 MSH6 child 6_121183982_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 574d136c-328f-11e6-bfa2-581f0e01a414 7_157855206_CCTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 157855206 CCT C 300 PASS PTPRN2 Del intronic 2 3 MSH6 child 7_157855206_CCTC_MSH6 2 2 2 CT 2 CT Repeat-mediated 5750e3b0-3277-11e6-92d2-c259c225ee11 3_71623258_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 71623258 GT G 660 PASS FOXP1 Del intronic 1 8 MSH6 child 3_71623258_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 575888b6-3279-11e6-a391-f6d67d6a9fc7 6_128252000_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 128252000 GA G 470 PASS - Del - 1 5 MSH6 child 6_128252000_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 57634bf2-329c-11e6-bda6-065325c9da85 13_77012105_AAAATAAAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 77012105 A AAATAAAT 720 PASS - Ins - 7 0 MSH6 child 13_77012105_AAAATAAAT_MSH6 7 7 - - - - Ins 57654d32-326d-11e6-b306-b5204b47a305 2_62666391_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 62666391 CT C 300 PASS - Del - 1 9 MSH6 child 2_62666391_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 57655c1c-3292-11e6-9401-04ed6f39e758 3_167434388_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 167434388 TA T 360 PASS PDCD10 Del intronic 1 9 MSH6 child 3_167434388_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 57684988-326d-11e6-9f48-94df41c4520d 12_57774551_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 57774551 TA T 633 PASS R3HDM2 Del intronic 1 9 MSH6 child 12_57774551_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 576bb8e8-3281-11e6-9fe5-cc8f38e8a824 19_13012802_CTGC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 19 13012802 CTG C 960 PASS GCDH Del downstream 2 1 POLE parent 19_13012802_CTGC_POLE 2 2 1 T 0 - Microhomology-mediated 578a7b30-3285-11e6-83b0-2c6e0d016689 2_174226530_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 174226530 GT G 415 PASS CDCA7 Del intronic 1 9 EXO1 child 2_174226530_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 578e1af6-3285-11e6-99f7-076ea2c71c31 12_82697815_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 82697815 CT C 398 PASS - Del - 1 7 MSH6 child 12_82697815_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 578e5c5a-3271-11e6-b5b8-e0c24a47a305 X_136489237_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 136489237 TA T 480 PASS - Del - 1 8 MSH6 child X_136489237_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 579c3806-3277-11e6-92d2-c259c225ee11 3_71701552_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 71701552 GA G 600 PASS - Del - 1 9 MSH6 child 3_71701552_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 579cf48e-328c-11e6-b4fe-93c36f39e758 12_51254205_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 51254205 CT C 300 PASS TMPRSS12 Del intronic 1 9 MSH6 child 12_51254205_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 57a56910-3274-11e6-8bd4-92b28a20d9eb 9_108134291_GAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 9 108134291 GA G 540 PASS SLC44A1 Del intronic 1 8 NEIL1 child 9_108134291_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 57a88be8-3320-11e6-a5ff-2d2ef7d33ce3 10_14654963_CTC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 10 14654963 CT C 360 PASS FAM107B Del intronic 1 7 CHK2 child 10_14654963_CTC_CHK2 1 1 1 T 6 T Repeat-mediated 57aa5582-3289-11e6-a100-84090e01a414 18_6498938_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 6498938 AT A 360 PASS CTD-2124B20.2 Del downstream 1 9 MSH6 child 18_6498938_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 57aa6a64-3279-11e6-a391-f6d67d6a9fc7 6_128330277_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 128330277 CT C 540 PASS PTPRK Del frameshift 1 6 MSH6 child 6_128330277_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 57b5b3e8-3273-11e6-901f-2d6266a58581 3_16699672_CAGCTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 3 16699672 CAGCT C 360 PASS - Del - 4 1 NUDT1 child 3_16699672_CAGCTC_NUDT1 4 4 1 A 0 - Microhomology-mediated 57bcbdca-3276-11e6-92d2-c259c225ee11 3_838505_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 838505 GA G 420 PASS AC090044.1 Del intronic 1 8 MSH6 child 3_838505_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 57bd739a-3277-11e6-83cd-a472a178171f 4_164667632_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 164667632 GT G 960 PASS MARCH1 Del intronic 1 9 MSH6 child 4_164667632_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 57cb901a-3281-11e6-a545-ae2236fc2f7d 14_67002144_ATA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 14 67002144 AT A 300 PASS GPHN Del intronic 1 9 NUDT1 child 14_67002144_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 57d4b3ea-3275-11e6-88aa-2d54a966024e 7_96392739_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 96392739 AT A 360 PASS - Del - 1 8 MSH6 parent 7_96392739_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 57d6479c-3279-11e6-a391-f6d67d6a9fc7 6_128365909_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 128365909 CT C 540 PASS PTPRK Del intronic 1 7 MSH6 child 6_128365909_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 57d97cf0-3292-11e6-b77d-2eef6f39e758 6_126589037_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 126589037 AT A 420 PASS - Del - 1 9 MSH6 child 6_126589037_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 57da4456-3282-11e6-9881-48b254de4fc4 5_314966_AGGAATTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 5 314966 AGGAATT A 540 PASS PDCD6 Del 3prime_UTR_variant 6 1 FANCC child 5_314966_AGGAATTA_FANCC 6 6 0 - 0 - None 57fef618-3276-11e6-83cd-a472a178171f 4_93616732_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 93616732 GA G 600 PASS GRID2 Del intronic 1 9 MSH6 child 4_93616732_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 58126d74-3285-11e6-870e-6af1bbe6aa09 19_56150887_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 56150887 CT C 600 PASS ZNF580 Del upstream 1 4 MSH6 child 19_56150887_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 5813f64e-3285-11e6-8b67-086ea2c71c31 1_77347247_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 77347247 AT A 480 PASS ST6GALNAC5 Del intronic 1 9 MSH6 child 1_77347247_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 581565de-3257-11e6-885f-d1947872c165 4_83827647_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 83827647 CA C 780 PASS THAP9 Del frameshift 1 7 MSH6 child 4_83827647_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 5815902e-328c-11e6-8eee-76090e01a414 10_67390405_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 67390405 C CA 420 PASS RP11-222A11.1 Ins intronic 1 7 MSH6 child 10_67390405_CCA_MSH6 1 1 - - - - Ins 58162a3c-328e-11e6-bb1e-70e16f39e758 X_46958107_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 46958107 GT G 840 PASS - Del - 1 8 MSH6 child X_46958107_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 5817d104-3273-11e6-abaf-4642cab49462 6_121420430_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 121420430 CT C 420 PASS TBC1D32 Del intronic 1 7 MSH6 child 6_121420430_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 5819ec80-3289-11e6-b0bc-c7a46f39e758 5_108385269_CCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 5 108385269 C CT 373 PASS FER Ins intronic 1 9 EXO1 child 5_108385269_CCT_EXO1 1 1 - - - - Ins 5821891a-3273-11e6-975f-8246cab49462 16_56851408_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 56851408 CT C 540 PASS NUP93 Del intronic 1 8 MSH6 child 16_56851408_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5821ad28-3273-11e6-8f33-a6d9cde16804 11_85985244_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 85985244 GT G 480 PASS EED Del intronic 1 6 MSH6 child 11_85985244_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 58279c3c-3279-11e6-8026-e974e7d0bdd7 2_59044775_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 2 59044775 CA C 720 PASS LINC01122 Del intronic 1 9 FANCC parent 2_59044775_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 582bd3f4-3276-11e6-ab69-1c1607e9a829 9_131638389_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 131638389 CT C 539 PASS CCBL1 Del intronic 1 7 MSH6 child 9_131638389_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 58349668-326e-11e6-92dd-fda8977b3f23 10_125130439_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 125130439 AT A 300 PASS RP11-282I1.1 Del intronic 1 4 MSH6 child 10_125130439_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 58386e04-328d-11e6-8952-77c36f39e758 10_119483895_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 119483895 TA T 720 PASS - Del - 1 8 MSH6 child 10_119483895_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 584226d6-328f-11e6-b81f-4ee66f39e758 8_40491654_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 40491654 TA T 480 PASS ZMAT4 Del intronic 1 8 MSH6 child 8_40491654_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 58475426-3276-11e6-83cd-a472a178171f 4_93726956_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 93726956 GA G 300 PASS GRID2 Del intronic 1 8 MSH6 child 4_93726956_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 58479634-3325-11e6-a89e-8866c042253c 7_107990812_ACTCATCAGGTTTTCCTGGAGTGA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 7 107990812 ACTCATCAGGTTTTCCTGGAGTG A 420 PASS NRCAM Del intronic 22 1 POLE child 7_107990812_ACTCATCAGGTTTTCCTGGAGTGA_POLE 22 >=10 4 CTCA 0 - Microhomology-mediated 584da18c-3285-11e6-b093-c9c7b0dab373 2_72834273_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 72834273 AT A 360 PASS EXOC6B Del intronic 1 7 MSH6 child 2_72834273_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5851ddfc-329d-11e6-bbf7-b00798ba1142 3_89559636_AATC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 3 89559636 A ATC 600 PASS - Ins - 2 1 CHK2 child 3_89559636_AATC_CHK2 2 2 - - - - Ins 58581664-3323-11e6-84e3-a2cceab8d062 2_237340741_CTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 2 237340741 CT C 960 PASS IQCA1 Del intronic 1 9 CHK2 parent 2_237340741_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 585a2008-3288-11e6-a21c-b819bce6aa09 X_31754119_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 31754119 A AT 360 PASS DMD Ins intronic 1 8 MSH6 child X_31754119_AAT_MSH6 1 1 - - - - Ins 585e1b5c-3285-11e6-8b67-086ea2c71c31 1_77583687_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 77583687 TA T 540 PASS PIGK Del intronic 1 9 MSH6 child 1_77583687_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 58639c66-3290-11e6-bc33-715238e8a824 2_188961167_AAATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 2 188961167 AAAT A 300 PASS LINC01090 Del intronic 3 4 FANCC child 2_188961167_AAATA_FANCC 3 3 3 AAT 3 AAT Repeat-mediated 5863fd1c-32a1-11e6-ae71-0c5325c9da85 1_193585515_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 193585515 C CA 300 PASS - Ins - 1 3 MSH6 child 1_193585515_CCA_MSH6 1 1 - - - - Ins 58737fec-328f-11e6-9d24-ade56f39e758 7_52726177_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 52726177 GA G 360 PASS - Del - 1 8 MSH6 child 7_52726177_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 587872e4-3272-11e6-9e18-3a69671699ea 10_2652416_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 2652416 TA T 660 PASS - Del - 1 9 MSH6 child 10_2652416_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 587c38ee-3285-11e6-a0a8-096ea2c71c31 11_89083902_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 89083902 AT A 420 PASS NOX4 Del intronic 1 8 MSH6 child 11_89083902_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5882b754-3259-11e6-acc5-308412ae24cf 5_28421555_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 28421555 C CA 660 PASS - Ins - 1 7 MSH6 child 5_28421555_CCA_MSH6 1 1 - - - - Ins 5882fc50-3321-11e6-aebd-38d38877c0b2 17_11592419_AAT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 17 11592419 A AT 300 PASS DNAH9 Ins intronic 1 1 CHK2 parent 17_11592419_AAT_CHK2 1 1 - - - - Ins 5884d04c-3287-11e6-8bf5-48a538e8a824 14_49960395_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 14 49960395 AT A 540 PASS - Del - 1 9 NUDT1 parent 14_49960395_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 588a1fc0-3291-11e6-9401-04ed6f39e758 3_97356386_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 97356386 CT C 480 PASS EPHA6 Del intronic 1 8 MSH6 child 3_97356386_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 588b088e-3289-11e6-a8ff-fbcd191589db 11_22875061_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 11 22875061 GA G 540 PASS CCDC179 Del intronic 1 7 FANCC child 11_22875061_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 5898d386-3281-11e6-a5e9-0107694da5d2 7_75585598_CAGC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 75585598 CAG C 300 PASS POR Del intronic 2 2 NEIL1 child 7_75585598_CAGC_NEIL1 2 2 2 AG 1 AG Repeat-mediated 58ac9098-328f-11e6-bd84-429305ad5bc4 1_214418528_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 214418528 C CT 480 PASS - Ins - 1 8 MSH6 child 1_214418528_CCT_MSH6 1 1 - - - - Ins 58b4512a-3285-11e6-a0a8-096ea2c71c31 11_89251571_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 89251571 TA T 300 PASS NOX4 Del intronic 1 9 MSH6 child 11_89251571_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 58d0b088-3256-11e6-bf41-357a7872c165 10_57898548_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 57898548 G GT 660 PASS - Ins - 1 5 MSH6 child 10_57898548_GGT_MSH6 1 1 - - - - Ins 58d39730-326f-11e6-bf40-308964f80bad 4_57980916_ATA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 4 57980916 AT A 420 PASS IGFBP7 Del upstream 1 6 POLM parent 4_57980916_ATA_POLM 1 1 1 T 5 T Repeat-mediated 58d3c148-328c-11e6-b9c4-751d0e01a414 5_7203565_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 7203565 AT A 360 PASS - Del - 1 6 MSH6 child 5_7203565_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 58eb78e2-3287-11e6-b32c-fd87a2c71c31 5_122704654_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 122704654 GT G 600 PASS CEP120 Del intronic 1 9 MSH6 child 5_122704654_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 58f1c7fe-3293-11e6-9230-fb250e01a414 3_156252511_CCCCAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 156252511 C CCCAG 600 PASS KCNAB1 Ins intronic 4 0 MSH6 child 3_156252511_CCCCAG_MSH6 4 4 - - - - Ins 58f7121a-328c-11e6-9c89-8d090e01a414 1_182541283_TTAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 182541283 TTA T 360 PASS RNASEL Del downstream 2 1 MSH6 child 1_182541283_TTAT_MSH6 2 2 0 - 0 - None 58f7db18-3328-11e6-95a6-476ac042253c 3_156798591_ATTTTGCAAACTATTAAAGTAACTTGATATCATGCTATATCTTTAAAAGATATTTCTCAGCTGTGAATACTATTGGAATGAAATCGGGACTTTTCAAAAAAGTCTGCAGCATGAAAAGGTTTGCATATGAATTCTGATTCCATTAGAAAACCATTTCTTTTAGGACTGTTTTATCATTCTCTATTGGTTCATGTAATATGATTGGTTTGTTCTTATTCTAATTAAAGATGCAATTTATTAAAGAGTCTTTAACTTCACTAAGGCAAAGTTTAAAAAGCTTCTAATCAGATATTCTTGGTAGGCAGGAGAACTATAACCTTCAAACTCTCTGATGTTGTATGAAGCAGCTCTCATCTCTACACAAAGATTTTCACTTCTGTGATCTGGCCTGGTAAAACATTTATTCCTTTATACTCAGTCCTAGTTTGTTTTAGATCTGGGCCTCTGGGCCCATTAATTTGTATAGGATGATAATTTGTATAGGAAGACAGGTGTGCTGTTTTTCTTCAATCCTTGAGGATATTAGGAAAAACTTTAACCAATTAAGGGATCCCATCACCTGACGTTTCTTTGGGGAAAATGACTTTTGAAGGCATGTGGGGATTGTCAAGGAAATAATTTTCCCTTTAAATTACATGTTTGTACGTAAGAGGAATGCTGAGCAGGATATCAAGAGGCAGTGGTCACTCATGGCACTATTTTCAAAGTTAGTTAAACAAGGAAACCAAACCGTGTTAGGATGGT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 156798591 ATTTTGCAAACTATTAAAGTAACTTGATATCATGCTATATCTTTAAAAGATATTTCTCAGCTGTGAATACTATTGGAATGAAATCGGGACTTTTCAAAAAAGTCTGCAGCATGAAAAGGTTTGCATATGAATTCTGATTCCATTAGAAAACCATTTCTTTTAGGACTGTTTTATCATTCTCTATTGGTTCATGTAATATGATTGGTTTGTTCTTATTCTAATTAAAGATGCAATTTATTAAAGAGTCTTTAACTTCACTAAGGCAAAGTTTAAAAAGCTTCTAATCAGATATTCTTGGTAGGCAGGAGAACTATAACCTTCAAACTCTCTGATGTTGTATGAAGCAGCTCTCATCTCTACACAAAGATTTTCACTTCTGTGATCTGGCCTGGTAAAACATTTATTCCTTTATACTCAGTCCTAGTTTGTTTTAGATCTGGGCCTCTGGGCCCATTAATTTGTATAGGATGATAATTTGTATAGGAAGACAGGTGTGCTGTTTTTCTTCAATCCTTGAGGATATTAGGAAAAACTTTAACCAATTAAGGGATCCCATCACCTGACGTTTCTTTGGGGAAAATGACTTTTGAAGGCATGTGGGGATTGTCAAGGAAATAATTTTCCCTTTAAATTACATGTTTGTACGTAAGAGGAATGCTGAGCAGGATATCAAGAGGCAGTGGTCACTCATGGCACTATTTTCAAAGTTAGTTAAACAAGGAAACCAA ACCGTGTTAGGATGGT 600 PASS LINC00880 Complex downstream 727 0 CHK2 child 3_156798591_ATTTTGCAAACTATTAAAGTAACTTGATATCATGCTATATCTTTAAAAGATATTTCTCAGCTGTGAATACTATTGGAATGAAATCGGGACTTTTCAAAAAAGTCTGCAGCATGAAAAGGTTTGCATATGAATTCTGATTCCATTAGAAAACCATTTCTTTTAGGACTGTTTTATCATTCTCTATTGGTTCATGTAATATGATTGGTTTGTTCTTATTCTAATTAAAGATGCAATTTATTAAAGAGTCTTTAACTTCACTAAGGCAAAGTTTAAAAAGCTTCTAATCAGATATTCTTGGTAGGCAGGAGAACTATAACCTTCAAACTCTCTGATGTTGTATGAAGCAGCTCTCATCTCTACACAAAGATTTTCACTTCTGTGATCTGGCCTGGTAAAACATTTATTCCTTTATACTCAGTCCTAGTTTGTTTTAGATCTGGGCCTCTGGGCCCATTAATTTGTATAGGATGATAATTTGTATAGGAAGACAGGTGTGCTGTTTTTCTTCAATCCTTGAGGATATTAGGAAAAACTTTAACCAATTAAGGGATCCCATCACCTGACGTTTCTTTGGGGAAAATGACTTTTGAAGGCATGTGGGGATTGTCAAGGAAATAATTTTCCCTTTAAATTACATGTTTGTACGTAAGAGGAATGCTGAGCAGGATATCAAGAGGCAGTGGTCACTCATGGCACTATTTTCAAAGTTAGTTAAACAAGGAAACCAAACCGTGTTAGGATGGT_CHK2 712 >=10 - - - - Complex 58fd5f58-326e-11e6-9f48-94df41c4520d 12_133702169_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 133702169 CA C 300 PASS ZNF891 Del intronic 1 9 MSH6 child 12_133702169_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5905715a-3289-11e6-a80b-87090e01a414 11_6935498_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 6935498 AT A 360 PASS - Del - 1 8 MSH6 child 11_6935498_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5906c9ac-328d-11e6-bd84-429305ad5bc4 1_243309330_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 243309330 GA G 540 PASS CEP170 Del intronic 1 8 MSH6 child 1_243309330_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 590b3eb2-3254-11e6-89d3-d29498816cf3 2_88685040_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 88685040 GA G 540 PASS RNU6-1168P Del upstream 1 9 MSH6 child 2_88685040_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 590dd4b0-3272-11e6-975f-8246cab49462 16_387594_TCAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 387594 TCA T 900 PASS AXIN1 Del intronic 2 2 MSH6 child 16_387594_TCAT_MSH6 2 2 2 CA 1 CA Repeat-mediated 59140898-328c-11e6-bd84-429305ad5bc4 1_105573505_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 105573505 TA T 360 PASS - Del - 1 9 MSH6 child 1_105573505_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 59257f7a-329a-11e6-ae71-0c5325c9da85 1_24184563_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 24184563 CT C 720 PASS FUCA1 Del intronic 1 9 MSH6 child 1_24184563_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 59343d22-3294-11e6-b14c-5e337a852e0e X_110124336_GAAAAAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 110124336 GAAAAA G 360 PASS - Del - 5 7 CHK2 child X_110124336_GAAAAAG_CHK2 5 5 2 AA 0 - Microhomology-mediated 59541702-328d-11e6-ae53-96c36f39e758 15_82130218_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 82130218 GA G 480 PASS RP11-499F3.2 Del intronic 1 8 MSH6 child 15_82130218_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5962d590-32a0-11e6-bc66-17b4cc638e3d 8_99157625_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 99157625 CT C 780 PASS POP1 Del intronic 1 7 MSH6 child 8_99157625_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 5973442c-328a-11e6-b74f-549ba2c71c31 20_51358597_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 51358597 CT C 660 PASS - Del - 1 9 MSH6 child 20_51358597_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5976b1f8-3275-11e6-abaf-4642cab49462 6_76881663_AAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 76881663 A AC 300 PASS - Ins - 1 8 MSH6 child 6_76881663_AAC_MSH6 1 1 - - - - Ins 5976cf24-326d-11e6-b2ac-b6204b47a305 17_42836877_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 42836877 TG T 360 PASS ADAM11 Del intronic 1 7 MSH6 child 17_42836877_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 5985f000-328e-11e6-b9c4-751d0e01a414 5_140327255_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 140327255 TA T 300 PASS PCDHA9 Del intronic 1 6 MSH6 child 5_140327255_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 598888de-327e-11e6-94ee-5ee4b41afd22 9_84807985_GTG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 9 84807985 GT G 360 PASS - Del - 1 9 POLM child 9_84807985_GTG_POLM 1 1 1 T 8 T Repeat-mediated 5989d0a0-3273-11e6-8b9c-cffdd8b4fa2c 11_17493439_CCA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 11 17493439 C CA 600 PASS ABCC8 Ins intronic 1 5 MSH6 parent 11_17493439_CCA_MSH6 1 1 - - - - Ins 598c704e-3287-11e6-b093-c9c7b0dab373 2_240058803_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 240058803 GT G 660 PASS HDAC4 Del intronic 1 8 MSH6 child 2_240058803_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 598dc7e8-3271-11e6-8418-1c5942c4520d 3_131695602_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 131695602 TA T 360 PASS CPNE4 Del intronic 1 8 MSH6 child 3_131695602_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 59908a1c-3273-11e6-b89d-b2d6b0dab373 4_58628647_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 58628647 C CA 360 PASS - Ins - 1 5 MSH6 child 4_58628647_CCA_MSH6 1 1 - - - - Ins 59a9d61a-3274-11e6-bfb2-2749c225ee11 12_129546938_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 129546938 GA G 300 PASS - Del - 1 8 MSH6 child 12_129546938_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 59b0afae-329b-11e6-b549-1e5325c9da85 10_91075755_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 91075755 AT A 840 PASS LIPA Del intronic 1 8 MSH6 child 10_91075755_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 59b3805c-328d-11e6-b8e6-91c36f39e758 11_120163086_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 120163086 CA C 360 PASS POU2F3 Del intronic 1 9 MSH6 child 11_120163086_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 59b3cfd2-3290-11e6-9d24-ade56f39e758 7_114403161_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 114403161 AT A 480 PASS - Del - 1 9 MSH6 child 7_114403161_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 59b43218-3274-11e6-94a5-6c01ebb8d062 8_105958933_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 8 105958933 TA T 660 PASS - Del - 1 3 NUDT1 child 8_105958933_TAT_NUDT1 1 1 1 A 2 A Repeat-mediated 59b65fd4-329c-11e6-b549-1e5325c9da85 10_11315677_TTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 11315677 T TG 300 PASS CELF2 Ins intronic 1 0 MSH6 child 10_11315677_TTG_MSH6 1 1 - - - - Ins 59bc225e-3281-11e6-845d-6b29bce6aa09 X_8182867_TTTCTAATATCAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA X 8182867 TTTCTAATATCA T 480 PASS - Del - 11 1 POLM child X_8182867_TTTCTAATATCAT_POLM 11 >=10 1 T 0 - Microhomology-mediated 59c596b0-329d-11e6-bc2c-2a5e25c9da85 4_29279891_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 29279891 TA T 660 PASS - Del - 1 6 MSH6 child 4_29279891_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 59dedb2a-3284-11e6-8ebc-68f1bbe6aa09 18_1525096_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 1525096 TA T 840 PASS RP11-476K15.1 Del intronic 1 8 MSH6 child 18_1525096_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 59e0182c-328a-11e6-8eee-76090e01a414 10_72094948_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 72094948 GA G 1020 PASS LRRC20 Del intronic 1 5 MSH6 child 10_72094948_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 59efb5d4-328a-11e6-821d-8c090e01a414 13_85440924_CAGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 85440924 CAG C 300 PASS - Del - 2 1 MSH6 child 13_85440924_CAGC_MSH6 2 2 1 A 0 - Microhomology-mediated 59f8ba7a-3286-11e6-b093-c9c7b0dab373 2_160568312_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 160568312 AT A 780 PASS MARCH7 Del upstream 1 4 MSH6 child 2_160568312_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 59fbcf12-3254-11e6-8508-6f1dee3c4f5d 5_74749392_TCT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 5 74749392 TC T 660 PASS COL4A3BP Del intronic 1 1 POLB child 5_74749392_TCT_POLB 1 1 0 - 0 C None 59fd09a2-328d-11e6-8fa6-65cc977b3f23 15_84081163_ATATGA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 15 84081163 ATATG A 480 PASS - Del - 4 5 NEIL1 child 15_84081163_ATATGA_NEIL1 4 4 4 TATG 4 TATG Repeat-mediated 59fdfd72-3273-11e6-b8ae-92c57872c165 14_79431133_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 79431133 AT A 420 PASS NRXN3 Del intronic 1 9 MSH6 child 14_79431133_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 59feba00-329b-11e6-aca6-b39fcc638e3d 2_102548783_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 102548783 AT A 540 PASS - Del - 1 8 MSH6 child 2_102548783_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5a0448ac-329c-11e6-a5cf-e5abcc638e3d 9_7887533_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 7887533 AT A 660 PASS - Del - 1 7 MSH6 child 9_7887533_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5a098bf0-3283-11e6-89eb-f2eacdacbbbf 4_86892482_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 86892482 AT A 480 PASS ARHGAP24 Del intronic 1 7 EXO1 child 4_86892482_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 5a15c618-3292-11e6-9432-c0e56f39e758 5_87820120_TTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 87820120 T TG 720 PASS LINC00461 Ins intronic 1 3 MSH6 child 5_87820120_TTG_MSH6 1 1 - - - - Ins 5a1b723a-327d-11e6-a360-ea8590e2c2e6 11_96203866_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 11 96203866 AT A 360 PASS JRKL-AS1 Del intronic 1 9 NUDT1 child 11_96203866_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 5a201074-3287-11e6-a5b3-3f1ebce6aa09 7_83706669_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 83706669 AT A 420 PASS SEMA3A Del intronic 1 7 MSH6 child 7_83706669_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5a25bd9a-326d-11e6-92dd-fda8977b3f23 10_65373981_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 65373981 CA C 300 PASS REEP3 Del intronic 1 9 MSH6 child 10_65373981_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5a289712-328c-11e6-9c89-8d090e01a414 1_182798101_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 182798101 AT A 300 PASS NPL Del 3prime_UTR_variant 1 7 MSH6 child 1_182798101_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5a28e384-3278-11e6-a391-f6d67d6a9fc7 6_53926986_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 53926986 GT G 300 PASS MLIP Del intronic 1 9 MSH6 child 6_53926986_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 5a2d6ece-3276-11e6-8c34-46e27872c165 5_66513657_CAGC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 66513657 CAG C 660 PASS - Del - 2 4 MSH6 child 5_66513657_CAGC_MSH6 2 2 2 AG 3 AG Repeat-mediated 5a2f7c66-3288-11e6-b32c-fd87a2c71c31 5_50202202_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 50202202 A AT 660 PASS - Ins - 1 6 MSH6 child 5_50202202_AAT_MSH6 1 1 - - - - Ins 5a38e998-3285-11e6-aa7b-37792aaffa45 5_27044466_AAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 5 27044466 A AT 480 PASS CDH9 Ins intronic 1 9 POLE child 5_27044466_AAT_POLE 1 1 - - - - Ins 5a396c10-328a-11e6-9b74-edcd191589db 10_94363651_GTG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 10 94363651 GT G 300 PASS KIF11 Del intronic 1 7 FANCC child 10_94363651_GTG_FANCC 1 1 1 T 6 T Repeat-mediated 5a3eaf24-329c-11e6-bda6-065325c9da85 13_77954534_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 77954534 A AT 780 PASS - Ins - 1 8 MSH6 child 13_77954534_AAT_MSH6 1 1 - - - - Ins 5a40028e-3323-11e6-ad87-aefe97ba1142 10_3916300_GGA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 10 3916300 G GA 900 PASS - Ins - 1 4 EXO1 child 10_3916300_GGA_EXO1 1 1 - - - - Ins 5a43e1c6-329a-11e6-a5cf-205325c9da85 11_30463286_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 30463286 CT C 780 PASS MPPED2 Del intronic 1 9 MSH6 child 11_30463286_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5a475fa8-3287-11e6-95fb-1402b5d65427 10_65473593_CTTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 10 65473593 CTT C 900 PASS RP11-170M17.1 Del intronic 2 4 NUDT1 parent 10_65473593_CTTC_NUDT1 2 2 2 TT 2 T Repeat-mediated 5a5435e8-3291-11e6-8297-8cfd977b3f23 6_39847034_ACA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 6 39847034 AC A 480 PASS DAAM2 Del frameshift 1 5 NEIL1 child 6_39847034_ACA_NEIL1 1 1 1 C 4 C Repeat-mediated 5a576ebc-326d-11e6-acc7-e55219a91649 1_79191091_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 79191091 TG T 360 PASS - Del - 1 7 MSH6 child 1_79191091_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 5a5c502e-328d-11e6-9c89-8d090e01a414 1_240789832_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 240789832 CT C 480 PASS - Del - 1 8 MSH6 child 1_240789832_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5a620004-325c-11e6-8b28-55ad7872c165 20_62213241_TTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 62213241 T TG 300 PASS - Ins - 1 1 MSH6 child 20_62213241_TTG_MSH6 1 1 - - - - Ins 5a64955e-326f-11e6-a539-0e5542c4520d 7_22742481_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 22742481 TA T 420 PASS - Del - 1 9 MSH6 child 7_22742481_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5a65cf2e-3291-11e6-9401-04ed6f39e758 3_97705838_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 97705838 CT C 420 PASS - Del - 1 8 MSH6 child 3_97705838_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5a6e6784-3254-11e6-b4d0-327a7872c165 11_58488624_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 58488624 CT C 540 PASS GLYAT Del intronic 1 9 MSH6 child 11_58488624_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5a6f2038-328c-11e6-8256-94c36f39e758 17_40977113_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 40977113 CA C 300 PASS BECN1 Del upstream 1 1 MSH6 child 17_40977113_CAC_MSH6 1 1 0 - 0 A None 5a6f317e-3271-11e6-b5b8-e0c24a47a305 X_137704957_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 137704957 AT A 300 PASS - Del - 1 9 MSH6 child X_137704957_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5a82761e-3288-11e6-8bbd-f88da2c71c31 21_22112095_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 22112095 C CA 780 PASS LINC00320 Ins downstream 1 7 MSH6 child 21_22112095_CCA_MSH6 1 1 - - - - Ins 5a8d8600-3277-11e6-a71d-236235cec73b X_107587765_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 107587765 CT C 420 PASS COL4A6 Del intronic 1 8 MSH6 child X_107587765_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5a8e95e8-3274-11e6-b562-fe54dcd214c4 5_2452049_CTC . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 5 2452049 CT C 480 PASS - Del - 1 9 NUDT1 child 5_2452049_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 5a91a7ba-329c-11e6-8d0f-075325c9da85 14_67556963_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 67556963 G GT 540 PASS GPHN Ins intronic 1 6 MSH6 child 14_67556963_GGT_MSH6 1 1 - - - - Ins 5a95fd00-3298-11e6-a210-6a27c7271a47 X_5812796_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA X 5812796 AT A 300 PASS NLGN4X Del intronic 1 8 CHK2 child X_5812796_ATA_CHK2 1 1 1 T 7 T Repeat-mediated 5a9d4346-3278-11e6-a47c-77abeab8d062 5_155984679_CAGAGAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 155984679 CAGAGA C 420 PASS SGCD Del intronic 5 1 EXO1 child 5_155984679_CAGAGAC_EXO1 5 5 0 - 0 - None 5aa76280-328d-11e6-a2c6-303e046f68b1 16_83793375_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 16 83793375 TA T 420 PASS CDH13 Del intronic 1 8 POLE child 16_83793375_TAT_POLE 1 1 1 A 7 A Repeat-mediated 5aa924c4-3320-11e6-bda0-2f6519a91649 12_7517387_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 12 7517387 CA C 960 PASS CD163L1 Del intronic 1 9 CHK2 child 12_7517387_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 5aa97e68-3291-11e6-a24a-86b34430f757 5_175390144_CAGC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 5 175390144 CAG C 378 PASS THOC3 Del intronic 2 1 POLE child 5_175390144_CAGC_POLE 2 2 1 A 0 - Microhomology-mediated 5aae1b90-3321-11e6-bfd0-d4ceeab8d062 19_40881077_CAC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 19 40881077 CA C 480 PASS HIPK4 Del downstream 1 9 CHK2 child 19_40881077_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 5ab4460e-3273-11e6-923c-a6d5ed3c4f5d 4_141735536_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 4 141735536 TA T 630 PASS - Del - 1 8 POLB child 4_141735536_TAT_POLB 1 1 1 A 7 A Repeat-mediated 5ab45d60-3291-11e6-9d24-ade56f39e758 7_13653073_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 13653073 C CA 420 PASS AC011288.2 Ins intronic 1 7 MSH6 child 7_13653073_CCA_MSH6 1 1 - - - - Ins 5ac13f8a-3273-11e6-9e18-3a69671699ea 10_69682479_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 69682479 CA C 780 PASS HERC4 Del 3prime_UTR_variant 1 8 MSH6 child 10_69682479_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5acc4ef8-329f-11e6-91d0-016425c9da85 7_109534398_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 109534398 GA G 660 PASS - Del - 1 9 MSH6 child 7_109534398_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5ace6e7c-329a-11e6-a5cf-205325c9da85 11_30609188_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 30609188 TA T 540 PASS MPPED2 Del upstream 1 7 MSH6 child 11_30609188_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5ad0aed2-3289-11e6-a80b-87090e01a414 11_7376216_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 7376216 TA T 300 PASS SYT9 Del intronic 1 8 MSH6 child 11_7376216_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 5ad931d6-3259-11e6-8cd9-139b7872c165 3_143178152_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 143178152 TA T 600 PASS SLC9A9 Del intronic 1 7 MSH6 child 3_143178152_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5ae42514-329f-11e6-b696-dd6225c9da85 5_148029874_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 148029874 TA T 360 PASS HTR4 Del intronic 1 9 MSH6 child 5_148029874_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5aea0694-334b-11e6-9f94-b3873cfdbd24 6_38113473_TGCCGGGAATGTGTTTCTAAGT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 6 38113473 TGCCGGGAATGTGTTTCTAAG T 1140 PASS ZFAND3 Del intronic 20 1 FANCC child 6_38113473_TGCCGGGAATGTGTTTCTAAGT_FANCC 20 >=10 3 GCC 0 - Microhomology-mediated 5aedb6ca-328a-11e6-bae2-7096cdacbbbf 18_69113337_GGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 18 69113337 G GA 300 PASS - Ins - 1 4 FANCC child 18_69113337_GGA_FANCC 1 1 - - - - Ins 5af405e4-3284-11e6-83f8-60792aaffa45 7_103864206_TAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 7 103864206 TA T 840 PASS - Del - 1 7 POLE child 7_103864206_TAT_POLE 1 1 1 A 6 A Repeat-mediated 5af4aed2-3292-11e6-9230-fb250e01a414 3_85113725_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 85113725 A AT 300 PASS CADM2 Ins intronic 1 6 MSH6 child 3_85113725_AAT_MSH6 1 1 - - - - Ins 5af77338-326f-11e6-9f48-94df41c4520d 12_83822048_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 83822048 G GT 300 PASS - Ins - 1 7 MSH6 child 12_83822048_GGT_MSH6 1 1 - - - - Ins 5af81d66-3287-11e6-a284-4b89a2c71c31 4_73251704_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 73251704 AT A 1020 PASS ADAMTS3 Del intronic 1 8 MSH6 child 4_73251704_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5afa342a-3273-11e6-b2b6-6589a20b69d5 8_21377979_ACCCA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 8 21377979 ACCC A 540 PASS - Del - 3 4 POLB child 8_21377979_ACCCA_POLB 3 3 1 C 0 - Microhomology-mediated 5b011c1a-3271-11e6-8418-1c5942c4520d 3_132290065_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 132290065 CT C 360 PASS ACAD11 Del intronic 1 9 MSH6 child 3_132290065_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5b014376-3284-11e6-821b-ea18038949d4 3_55038386_GTTCG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 3 55038386 GTTC G 900 PASS CACNA2D3 Del intronic 3 2 POLM child 3_55038386_GTTCG_POLM 3 3 3 TTC 1 TTC Repeat-mediated 5b14ecbc-3290-11e6-9d24-ade56f39e758 7_114712344_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 114712344 CT C 360 PASS AC068610.5 Del intronic 1 8 MSH6 child 7_114712344_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5b17c7e0-328e-11e6-8e48-791e0e01a414 8_47677297_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 47677297 GT G 360 PASS - Del - 1 9 MSH6 child 8_47677297_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 5b2ee9a0-3277-11e6-a8d8-3e6075253f64 3_136724435_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 136724435 CT C 420 PASS IL20RB Del intronic 1 8 FANCC child 3_136724435_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 5b31dfdc-329c-11e6-a0ea-135325c9da85 15_96404055_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 96404055 GA G 480 PASS - Del - 1 9 MSH6 child 15_96404055_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5b37ee0e-329c-11e6-8d0f-075325c9da85 14_67730615_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 67730615 A AT 540 PASS MPP5 Ins intronic 1 6 MSH6 child 14_67730615_AAT_MSH6 1 1 - - - - Ins 5b38fb0a-328d-11e6-8459-82090e01a414 12_104286590_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 104286590 C CA 300 PASS - Ins - 1 7 MSH6 child 12_104286590_CCA_MSH6 1 1 - - - - Ins 5b3d779c-3275-11e6-a501-63cd7872c165 6_114360257_CCAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 6 114360257 CCA C 300 PASS - Del - 2 2 NEIL1 child 6_114360257_CCAC_NEIL1 2 2 2 CA 1 CA Repeat-mediated 5b4625f8-3271-11e6-b630-aeceb41afd22 17_31078800_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 17 31078800 CA C 360 PASS MYO1D Del intronic 1 7 FANCC child 17_31078800_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 5b5f08fa-3287-11e6-9a8e-d2b1f6dffcf6 1_55150676_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 55150676 CT C 360 PASS MROH7 Del intronic 1 9 NUDT1 parent 1_55150676_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 5b62dc58-3275-11e6-88aa-2d54a966024e 7_97173759_CAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 97173759 CA C 600 PASS - Del - 1 9 MSH6 parent 7_97173759_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5b650cbe-32a0-11e6-aca6-b39fcc638e3d 2_175164718_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 175164718 C CA 780 PASS - Ins - 1 7 MSH6 child 2_175164718_CCA_MSH6 1 1 - - - - Ins 5b66ff72-3275-11e6-bfd3-a6593dc9300a X_29385248_ATAATTATTTATTCA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA X 29385248 ATAATTATTTATTC A 780 PASS IL1RAPL1 Del intronic 13 1 EXO1 child X_29385248_ATAATTATTTATTCA_EXO1 13 >=10 1 T 0 - Microhomology-mediated 5b6b4f9e-3321-11e6-9320-f78420e7b7a8 16_61279343_ACTGCTTTGAGGGGATTCAGGTAATTAAAATATTTGTGTTTGCAGA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 16 61279343 ACTGCTTTGAGGGGATTCAGGTAATTAAAATATTTGTGTTTGCAG A 300 PASS - Del - 44 1 CHK2 child 16_61279343_ACTGCTTTGAGGGGATTCAGGTAATTAAAATATTTGTGTTTGCAGA_CHK2 44 >=10 34 CTGCTTTGAGGGGATTCAGGTAATTAAAATATTT 0 - Microhomology-mediated 5b6d02d2-3284-11e6-b179-b9af90e2c2e6 15_62004141_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 15 62004141 GA G 720 PASS RP11-507B12.1 Del intronic 1 9 POLE child 15_62004141_GAG_POLE 1 1 1 A 8 A Repeat-mediated 5b6d66ca-329b-11e6-b549-1e5325c9da85 10_91595051_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 91595051 GT G 960 PASS LINC00865 Del intronic 1 8 MSH6 child 10_91595051_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 5b7295ea-3323-11e6-98e4-0c20d8fd0a58 X_42712107_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA X 42712107 GA G 840 PASS - Del - 1 7 CHK2 parent X_42712107_GAG_CHK2 1 1 1 A 6 A Repeat-mediated 5b74f594-326d-11e6-9f48-94df41c4520d 12_58772506_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 58772506 AT A 360 PASS - Del - 1 9 MSH6 child 12_58772506_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5b7604be-329c-11e6-a0ea-135325c9da85 15_96446652_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 96446652 GA G 480 PASS - Del - 1 8 MSH6 child 15_96446652_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5b821182-326f-11e6-b4bf-85eb97ba1142 2_31868055_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 31868055 GA G 720 PASS - Del - 1 9 EXO1 parent 2_31868055_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 5b9b8ff8-3270-11e6-a539-0e5542c4520d 7_98660471_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 98660471 CA C 360 PASS SMURF1 Del intronic 1 8 MSH6 child 7_98660471_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5b9bac4a-3289-11e6-bc2b-e5cd191589db 12_24606203_TAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 12 24606203 TA T 300 PASS RP11-444D3.1 Del intronic 1 8 FANCC child 12_24606203_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 5b9bbeb2-3273-11e6-aa3b-ca60a178171f 13_84252998_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 84252998 CA C 840 PASS - Del - 1 8 MSH6 child 13_84252998_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5b9f195a-3295-11e6-a24b-ac3c7a852e0e 6_81963232_AACTCTGCA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 6 81963232 AACTCTGC A 300 PASS - Del - 7 1 CHK2 child 6_81963232_AACTCTGCA_CHK2 7 7 2 AC 0 - Microhomology-mediated 5ba58c42-3289-11e6-bbaf-7c090e01a414 19_5473533_TTATATATGGAGGCTCAAAGCCAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 5473533 TTATATATGGAGGCTCAAAGCCA T 540 PASS - Del - 22 1 MSH6 child 19_5473533_TTATATATGGAGGCTCAAAGCCAT_MSH6 22 >=10 1 T 0 - Microhomology-mediated 5bb3f104-3277-11e6-9e0f-7959cab49462 7_127503656_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 127503656 CT C 720 PASS SND1 Del intronic 1 8 MSH6 child 7_127503656_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5bb5fd8c-3349-11e6-8b31-52813cfdbd24 7_41524492_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 7 41524492 AT A 600 PASS - Del - 1 9 FANCC child 7_41524492_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 5bb626e8-328d-11e6-bd84-429305ad5bc4 1_244604819_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 244604819 GT G 480 PASS ADSS Del intronic 1 9 MSH6 child 1_244604819_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 5bbaa162-3325-11e6-8c1c-2deb137bb207 15_85228173_CCA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 15 85228173 C CA 420 PASS SEC11A Ins intronic 1 5 EXO1 child 15_85228173_CCA_EXO1 1 1 - - - - Ins 5bbeba86-329e-11e6-91d0-016425c9da85 7_56048839_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 56048839 GT G 720 PASS GBAS Del intronic 1 8 MSH6 child 7_56048839_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 5bc22a8e-329b-11e6-b549-1e5325c9da85 10_91636392_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 91636392 CA C 480 PASS - Del - 1 8 MSH6 child 10_91636392_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5be64166-328d-11e6-b6a6-1f1e0e01a414 4_54987594_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 54987594 CT C 840 PASS - Del - 1 8 MSH6 child 4_54987594_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5be9f99e-3325-11e6-9f5d-eba78a20d9eb 8_15852602_GCTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 15852602 GCT G 540 PASS RP11-77B22.2 Del intronic 2 2 EXO1 child 8_15852602_GCTG_EXO1 2 2 2 CT 1 CT Repeat-mediated 5bf06ae2-328d-11e6-9297-a3a9cdacbbbf 10_4283907_TAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 10 4283907 TA T 300 PASS LINC00702 Del intronic 1 9 POLB child 10_4283907_TAT_POLB 1 1 1 A 8 A Repeat-mediated 5bf22830-3276-11e6-8c34-46e27872c165 5_67327588_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 67327588 CA C 360 PASS - Del - 1 5 MSH6 child 5_67327588_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 5bf5358c-328c-11e6-aa75-90c36f39e758 13_71808098_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 71808098 CA C 540 PASS - Del - 1 7 MSH6 child 13_71808098_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 5bf67a0c-328a-11e6-94b1-74090e01a414 17_54981741_TCTCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 54981741 TCTC T 300 PASS TRIM25 Del inframe 3 2 MSH6 child 17_54981741_TCTCT_MSH6 3 3 3 CTC 1 CTC Repeat-mediated 5bfd7eaa-329f-11e6-aea7-956725c9da85 3_54146291_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 54146291 GA G 720 PASS - Del - 1 8 MSH6 child 3_54146291_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5c0876b2-3285-11e6-821e-69f1bbe6aa09 16_84929970_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 84929970 TA T 540 PASS CRISPLD2 Del intronic 1 9 MSH6 child 16_84929970_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5c1f0dd4-3256-11e6-885f-d1947872c165 4_16056484_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 16056484 GA G 540 PASS PROM1 Del intronic 1 7 MSH6 child 4_16056484_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 5c2158f0-326f-11e6-acc7-e55219a91649 1_240789832_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 240789832 CT C 480 PASS - Del - 1 8 MSH6 child 1_240789832_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5c32a0b6-3255-11e6-a0fc-e737fa52e078 2_96163120_TAT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 2 96163120 TA T 540 PASS - Del - 1 9 POLM child 2_96163120_TAT_POLM 1 1 1 A 8 A Repeat-mediated 5c5551a8-3271-11e6-9309-bdc34a47a305 8_113709960_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 113709960 TA T 456 PASS CSMD3 Del intronic 1 9 MSH6 child 8_113709960_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5c56c240-3285-11e6-a1ac-fd6da2c71c31 13_107585514_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 107585514 CT C 471 PASS - Del - 1 7 MSH6 child 13_107585514_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 5c5773c8-328c-11e6-b9c4-751d0e01a414 5_8129883_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 8129883 AT A 360 PASS - Del - 1 8 MSH6 child 5_8129883_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5c5dc166-3272-11e6-bfa3-628a0cfb5812 X_106318942_CAC . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA X 106318942 CA C 300 PASS RBM41 Del intronic 1 8 POLB child X_106318942_CAC_POLB 1 1 1 A 7 A Repeat-mediated 5c5feacc-3286-11e6-8b67-086ea2c71c31 1_175860545_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 175860545 CT C 360 PASS - Del - 1 9 MSH6 child 1_175860545_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5c613fb2-3277-11e6-998e-ba48fa52e078 8_131367629_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 131367629 CA C 840 PASS ASAP1 Del intronic 1 7 MSH6 child 8_131367629_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 5c62e40c-3259-11e6-acc5-308412ae24cf 5_29623512_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 29623512 A AT 480 PASS - Ins - 1 6 MSH6 child 5_29623512_AAT_MSH6 1 1 - - - - Ins 5c662600-3289-11e6-a8ac-a28ea2c71c31 3_174659984_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 174659984 CT C 420 PASS NAALADL2 Del intronic 1 6 MSH6 child 3_174659984_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 5c6b40f0-326f-11e6-a539-0e5542c4520d 7_23219389_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 23219389 AT A 480 PASS KLHL7 Del downstream 1 9 MSH6 child 7_23219389_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5c709b58-329d-11e6-ae71-0c5325c9da85 1_203764935_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 203764935 GT G 540 PASS ZC3H11A Del upstream 1 7 MSH6 child 1_203764935_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 5c721d78-3254-11e6-81f9-42f212ae24cf 17_40881139_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 40881139 TA T 300 PASS EZH1 Del intronic 1 8 MSH6 child 17_40881139_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 5c7c3390-328a-11e6-a80b-87090e01a414 11_67246073_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 67246073 CT C 905 PASS AIP Del upstream 1 8 MSH6 child 11_67246073_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5c871f36-3270-11e6-93e2-b755671699ea 12_95679469_TCT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 12 95679469 TC T 360 PASS VEZT Del intronic 1 4 EXO1 parent 12_95679469_TCT_EXO1 1 1 1 C 3 C Repeat-mediated 5c8bfe5e-3278-11e6-9a3d-a569e7d0bdd7 3_155542232_GAG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 3 155542232 GA G 420 PASS SLC33A1 Del 3prime_UTR_variant 1 8 POLB child 3_155542232_GAG_POLB 1 1 1 A 7 A Repeat-mediated 5c8d5992-3292-11e6-b14c-5e337a852e0e X_6434807_AAGA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 6434807 AAG A 360 PASS - Del - 2 1 CHK2 child X_6434807_AAGA_CHK2 2 2 1 A 0 - Microhomology-mediated 5c90e19e-326e-11e6-b306-b5204b47a305 2_155981586_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 155981586 TA T 300 PASS - Del - 1 7 MSH6 child 2_155981586_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5c90fe26-3283-11e6-9346-16323cfdbd24 2_175399979_ATTATA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 2 175399979 ATTAT A 540 PASS - Del - 4 1 POLE parent 2_175399979_ATTATA_POLE 4 4 3 TTA 0 - Microhomology-mediated 5c9532b4-328a-11e6-bbaf-7c090e01a414 19_38608434_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 38608434 CT C 300 PASS SIPA1L3 Del intronic 1 9 MSH6 child 19_38608434_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5c9e51e6-3285-11e6-a8ad-04770d016689 9_18289933_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 18289933 GT G 420 PASS - Del - 1 8 EXO1 child 9_18289933_GTG_EXO1 1 1 1 T 7 T Repeat-mediated 5cad831c-328c-11e6-b68c-9fa420e7b7a8 8_57336123_CTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 8 57336123 CT C 300 PASS - Del - 1 9 POLE child 8_57336123_CTC_POLE 1 1 1 T 8 T Repeat-mediated 5cb15fc0-328f-11e6-a724-38ab4430f757 1_214192495_GAG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 1 214192495 GA G 780 PASS PROX1 Del intronic 1 4 POLE child 1_214192495_GAG_POLE 1 1 1 A 3 A Repeat-mediated 5cb2e906-3273-11e6-a5d0-4fd14a47a305 2_84480049_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 84480049 CT C 480 PASS - Del - 1 8 MSH6 child 2_84480049_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5cb69016-3277-11e6-a71d-236235cec73b X_108371927_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 108371927 AT A 660 PASS - Del - 1 4 MSH6 child X_108371927_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 5cb769be-329a-11e6-a5cf-205325c9da85 11_31080670_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 31080670 CA C 660 PASS - Del - 1 6 MSH6 child 11_31080670_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 5cba66cc-3255-11e6-8f56-7d832aaffa45 13_109386316_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 13 109386316 CA C 420 PASS MYO16 Del intronic 1 9 POLM child 13_109386316_CAC_POLM 1 1 1 A 8 A Repeat-mediated 5cbcef18-328d-11e6-9f30-37ab4430f757 11_68620710_GTG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 11 68620710 GT G 420 PASS - Del - 1 8 POLE child 11_68620710_GTG_POLE 1 1 1 T 7 T Repeat-mediated 5cc09d3c-328f-11e6-94e1-63e1191589db 3_143838317_AGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 143838317 AG A 300 PASS - Del - 1 2 FANCC child 3_143838317_AGA_FANCC 1 1 1 G 1 G Repeat-mediated 5cc785f2-3285-11e6-b309-dd03987b3f23 15_75641546_CCT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 15 75641546 C CT 480 PASS NEIL1 Ins frameshift 1 3 NEIL1 parent 15_75641546_CCT_NEIL1 1 1 - - - - Ins 5ccc4890-328e-11e6-919e-92c36f39e758 2_193280421_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 193280421 AT A 540 PASS - Del - 1 7 MSH6 child 2_193280421_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5ccc9e66-334d-11e6-84ae-66e1b0dab373 20_3994910_GAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 20 3994910 GA G 420 PASS RNF24 Del intronic 1 8 FANCC child 20_3994910_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 5cd06242-3273-11e6-a2a4-305390e2c2e6 3_27473371_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 27473371 TA T 540 PASS SLC4A7 Del intronic 1 9 POLB child 3_27473371_TAT_POLB 1 1 1 A 8 A Repeat-mediated 5cd449e8-328c-11e6-b805-77090e01a414 2_205058527_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 205058527 GA G 540 PASS - Del - 1 8 MSH6 child 2_205058527_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 5cd993cc-3286-11e6-bc08-5710147bb207 3_100712532_AAAGA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 3 100712532 AAAG A 540 PASS ABI3BP Del upstream 3 3 FANCC child 3_100712532_AAAGA_FANCC 3 3 3 AAG 2 AAG Repeat-mediated 5cdc1f0e-3284-11e6-a1ac-fd6da2c71c31 13_21229933_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 21229933 CA C 300 PASS IFT88 Del intronic 1 7 MSH6 child 13_21229933_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 5ce021fe-3256-11e6-a304-347a7872c165 1_197033423_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 197033423 TA T 420 PASS F13B Del intronic 1 7 MSH6 child 1_197033423_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5ce6015e-328e-11e6-b9c4-751d0e01a414 5_141404440_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 141404440 GA G 480 PASS - Del - 1 9 MSH6 child 5_141404440_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5ce64eee-328d-11e6-bd84-429305ad5bc4 1_245050586_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 245050586 CT C 360 PASS - Del - 1 9 MSH6 child 1_245050586_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5ce74190-329d-11e6-94ca-0aaecc638e3d X_37833130_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 37833130 AG A 780 PASS - Del - 1 2 MSH6 child X_37833130_AGA_MSH6 1 1 1 G 1 G Repeat-mediated 5cea6c1e-328c-11e6-b4fe-93c36f39e758 12_52005939_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 52005939 GT G 360 PASS SCN8A Del intronic 1 8 MSH6 child 12_52005939_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 5cf588b0-3282-11e6-9056-cd8f38e8a824 17_80781374_CGTC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 17 80781374 CGT C 300 PASS TBCD Del intronic 2 4 POLE parent 17_80781374_CGTC_POLE 2 2 2 GT 3 GT Repeat-mediated 5cf62db6-3277-11e6-8c34-46e27872c165 5_140164734_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 140164734 TA T 540 PASS PCDHA1 Del upstream 1 9 MSH6 child 5_140164734_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5d0403de-329d-11e6-a5cf-e5abcc638e3d 9_90618769_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 90618769 CA C 710 PASS - Del - 1 9 MSH6 child 9_90618769_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5d0426ce-3325-11e6-ae91-9acb70cce0de 4_142782495_GAG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 4 142782495 GA G 300 PASS - Del - 1 7 POLE child 4_142782495_GAG_POLE 1 1 1 A 6 A Repeat-mediated 5d068908-328c-11e6-8083-5acc977b3f23 16_53812709_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 16 53812709 AT A 360 PASS FTO Del intronic 1 9 NEIL1 child 16_53812709_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 5d0bebac-3325-11e6-841a-c49690e2c2e6 6_40059458_TAT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 6 40059458 TA T 420 PASS - Del - 1 1 POLE child 6_40059458_TAT_POLE 1 1 0 - 0 A None 5d152084-3274-11e6-9e18-3a69671699ea 10_133277502_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 133277502 AT A 660 PASS - Del - 1 8 MSH6 child 10_133277502_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5d170f0a-3325-11e6-a89e-8866c042253c 7_109510545_CTC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 7 109510545 CT C 300 PASS - Del - 1 8 POLE child 7_109510545_CTC_POLE 1 1 1 T 7 T Repeat-mediated 5d17314a-326e-11e6-92dd-fda8977b3f23 10_126545328_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 126545328 GT G 300 PASS - Del - 1 7 MSH6 child 10_126545328_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 5d1e3ace-3293-11e6-9eb4-6cb54430f757 3_96658905_GGA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 3 96658905 G GA 470 PASS EPHA6 Ins intronic 1 7 POLE child 3_96658905_GGA_POLE 1 1 - - - - Ins 5d2b1706-329a-11e6-a0ea-135325c9da85 15_42427120_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 42427120 AT A 480 PASS - Del - 1 6 MSH6 child 15_42427120_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 5d4b4746-327d-11e6-ade0-f80d6ee4ab00 16_53400152_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 16 53400152 TA T 360 PASS - Del - 1 4 POLB parent 16_53400152_TAT_POLB 1 1 1 A 3 A Repeat-mediated 5d4bb35a-328e-11e6-b8ba-0ad9191589db 8_78191085_GCAGTGAGCCAAGATG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 8 78191085 GCAGTGAGCCAAGAT G 420 PASS - Del - 14 1 FANCC child 8_78191085_GCAGTGAGCCAAGATG_FANCC 14 >=10 2 CA 0 - Microhomology-mediated 5d4dbc20-3281-11e6-8857-3d859cdf095d 18_53714510_CTC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 18 53714510 CT C 600 PASS CTD-2008L17.2 Del intronic 1 9 POLE child 18_53714510_CTC_POLE 1 1 1 T 8 T Repeat-mediated 5d5144f6-3328-11e6-8b1e-ddf006e9a829 20_9960697_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 20 9960697 AT A 300 PASS - Del - 1 8 POLE child 20_9960697_ATA_POLE 1 1 1 T 7 T Repeat-mediated 5d63eedc-328b-11e6-a80b-87090e01a414 11_129222574_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 129222574 TC T 360 PASS - Del - 1 1 MSH6 child 11_129222574_TCT_MSH6 1 1 0 - 0 C None 5d702e1e-3271-11e6-8418-1c5942c4520d 3_133306657_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 133306657 CT C 300 PASS CDV3 Del 3prime_UTR_variant 1 8 MSH6 child 3_133306657_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5d7322c2-3325-11e6-8527-5503694da5d2 X_87798139_TGAGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA X 87798139 TGAG T 420 PASS - Del - 3 2 EXO1 child X_87798139_TGAGT_EXO1 3 3 3 GAG 1 GAG Repeat-mediated 5d818014-3259-11e6-8cd9-139b7872c165 3_144100507_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 144100507 AT A 480 PASS - Del - 1 8 MSH6 child 3_144100507_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5d840c3a-3290-11e6-92cf-bf2a0e01a414 6_101516367_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 101516367 TA T 360 PASS - Del - 1 9 MSH6 child 6_101516367_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 5d85c02a-329f-11e6-91d0-016425c9da85 7_110255690_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 110255690 TG T 360 PASS - Del - 1 1 MSH6 child 7_110255690_TGT_MSH6 1 1 0 - 0 G None 5d8dedbc-32a0-11e6-a04f-c66a25c9da85 6_68295685_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 68295685 CT C 720 PASS - Del - 1 8 MSH6 child 6_68295685_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5d8ee55c-3271-11e6-8418-1c5942c4520d 3_133333868_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 133333868 CA C 300 PASS TOPBP1 Del intronic 1 8 MSH6 child 3_133333868_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5d8f5568-3290-11e6-92db-6c56f0f7a29c 1_189281718_TGT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 1 189281718 TG T 300 PASS - Del - 1 2 NEIL1 child 1_189281718_TGT_NEIL1 1 1 1 G 1 G Repeat-mediated 5db10f8a-327e-11e6-9a18-69cfaa716c52 4_307076_AAAATGCA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 4 307076 AAAATGC A 405 PASS - Del - 6 1 POLB parent 4_307076_AAAATGCA_POLB 6 6 3 AAA 0 - Microhomology-mediated 5db40e32-3284-11e6-9daa-026ea2c71c31 14_20317396_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 20317396 GA G 434 PASS - Del - 1 7 MSH6 child 14_20317396_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 5db54508-328a-11e6-a8ac-a28ea2c71c31 3_73567695_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 73567695 T TA 420 PASS PDZRN3 Ins intronic 1 8 MSH6 child 3_73567695_TTA_MSH6 1 1 - - - - Ins 5dba26a2-3273-11e6-8f10-bfc27872c165 4_161449190_ATGTA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 161449190 ATGT A 540 PASS - Del - 3 1 EXO1 parent 4_161449190_ATGTA_EXO1 3 3 1 T 0 - Microhomology-mediated 5dbb4016-3320-11e6-8250-3bb0cde16804 15_30153942_CTTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 15 30153942 CTT C 720 PASS - Del - 2 4 CHK2 child 15_30153942_CTTC_CHK2 2 2 2 TT 2 T Repeat-mediated 5dc079e2-3293-11e6-9230-fb250e01a414 3_157952832_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 157952832 C CA 300 PASS RSRC1 Ins intronic 1 0 MSH6 child 3_157952832_CCA_MSH6 1 1 - - - - Ins 5dc52554-328f-11e6-ae83-5ae3191589db 6_121642077_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 6 121642077 GA G 360 PASS TBC1D32 Del intronic 1 9 FANCC child 6_121642077_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 5dce6bc4-328e-11e6-b3cd-1ca5e7d0bdd7 17_58507756_GATTAGTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 17 58507756 GATTAGT G 480 PASS C17orf64 Del intronic 6 1 FANCC child 17_58507756_GATTAGTG_FANCC 6 6 0 - 0 - None 5dd9aa2e-328a-11e6-b805-77090e01a414 2_71005523_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 71005523 CT C 540 PASS FIGLA Del intronic 1 9 MSH6 child 2_71005523_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5dda41dc-328f-11e6-b4fe-93c36f39e758 12_96020479_TTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 96020479 T TG 420 PASS - Ins - 1 5 MSH6 child 12_96020479_TTG_MSH6 1 1 - - - - Ins 5ddc24f0-328c-11e6-aa75-90c36f39e758 13_72379944_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 72379944 CT C 300 PASS DACH1 Del intronic 1 9 MSH6 child 13_72379944_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5de468a6-3276-11e6-bf4d-b5224ec77248 8_20469764_GCG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 8 20469764 GC G 540 PASS - Del - 1 1 EXO1 child 8_20469764_GCG_EXO1 1 1 0 - 0 C None 5de59df4-3274-11e6-bfb2-2749c225ee11 12_130819236_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 130819236 AC A 300 PASS PIWIL1 Del upstream 1 1 MSH6 child 12_130819236_ACA_MSH6 1 1 0 - 0 C None 5ded4ecc-3257-11e6-91d3-a68412ae24cf 7_66202618_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 66202618 CT C 360 PASS KCTD7 Del upstream 1 6 MSH6 child 7_66202618_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 5e0464b0-3273-11e6-bfb2-2749c225ee11 12_68572575_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 68572575 CA C 420 PASS - Del - 1 8 MSH6 child 12_68572575_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5e113e72-3284-11e6-ad62-d2cf9b6d3b88 21_41187468_ATTTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 21 41187468 ATTT A 360 PASS - Del - 3 5 EXO1 child 21_41187468_ATTTA_EXO1 3 3 2 TT 0 - Microhomology-mediated 5e1179f0-3289-11e6-a32d-75090e01a414 14_24787785_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 24787785 AG A 420 PASS LTB4R Del downstream 1 6 MSH6 child 14_24787785_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 5e135440-329e-11e6-b696-dd6225c9da85 5_79576271_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 79576271 CT C 960 PASS - Del - 1 8 MSH6 child 5_79576271_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5e27ddd8-3277-11e6-998e-ba48fa52e078 8_132121436_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 132121436 AT A 540 PASS - Del - 1 9 MSH6 child 8_132121436_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5e2a9186-327c-11e6-89da-51be4dc77248 15_33234021_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 15 33234021 AT A 420 PASS FMN1 Del intronic 1 9 NUDT1 child 15_33234021_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 5e30262e-327b-11e6-ab1d-16d9ecf1e924 20_42950820_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 42950820 C CA 360 PASS - Ins - 1 8 MSH6 child 20_42950820_CCA_MSH6 1 1 - - - - Ins 5e346426-3291-11e6-80ab-78dad8b4fa2c 19_9587985_TCATCTAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 19 9587985 TCATCTA T 480 PASS ZNF560 Del intronic 6 1 NUDT1 child 19_9587985_TCATCTAT_NUDT1 6 6 1 C 0 - Microhomology-mediated 5e349d96-3292-11e6-b78c-8cb4e7d0bdd7 6_126127480_CCTTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 6 126127480 CCTT C 540 PASS NCOA7 Del intronic 3 1 FANCC child 6_126127480_CCTTC_FANCC 3 3 2 CT 0 - Microhomology-mediated 5e3be1a4-3293-11e6-b81f-4ee66f39e758 8_110998387_AAAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 110998387 A AAT 540 PASS - Ins - 2 4 MSH6 child 8_110998387_AAAT_MSH6 2 2 - - - - Ins 5e3d9330-3290-11e6-bd26-49b0e7d0bdd7 7_19712858_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 7 19712858 AT A 300 PASS - Del - 1 7 FANCC child 7_19712858_ATA_FANCC 1 1 1 T 6 T Repeat-mediated 5e41ec72-326e-11e6-b306-b5204b47a305 2_156715039_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 156715039 AT A 300 PASS - Del - 1 8 MSH6 child 2_156715039_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5e478da2-327e-11e6-831c-60fe684da5d2 12_42106984_CTTAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 12 42106984 CTTA C 360 PASS - Del - 3 6 NEIL1 child 12_42106984_CTTAC_NEIL1 3 3 3 TTA 5 TTA Repeat-mediated 5e6c7e6a-3287-11e6-a284-4b89a2c71c31 4_75058537_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 75058537 CT C 660 PASS MTHFD2L Del intronic 1 8 MSH6 child 4_75058537_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5e6ca9c0-3279-11e6-a71d-236235cec73b X_123714244_TTTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 123714244 T TTA 360 PASS TENM1 Ins intronic 2 5 MSH6 child X_123714244_TTTA_MSH6 2 2 - - - - Ins 5e778292-328c-11e6-aa75-90c36f39e758 13_72517107_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 72517107 CA C 720 PASS - Del - 1 8 MSH6 child 13_72517107_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5e7f3f8a-3270-11e6-a539-0e5542c4520d 7_99714105_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 99714105 TA T 300 PASS TAF6 Del intronic 1 7 MSH6 child 7_99714105_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5e7f9c22-3271-11e6-b5b8-e0c24a47a305 X_139171084_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 139171084 AT A 360 PASS - Del - 1 8 MSH6 child X_139171084_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5e9d809a-3256-11e6-9d15-298312ae24cf X_11992730_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 11992730 GA G 360 PASS - Del - 1 6 MSH6 child X_11992730_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 5ea40dd0-329b-11e6-8069-175325c9da85 12_91097409_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 91097409 CA C 780 PASS - Del - 1 8 MSH6 child 12_91097409_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5ea5c50c-3292-11e6-b717-5d42ead19ece 18_63451775_CTTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 18 63451775 CTT C 420 PASS CDH7 Del intronic 2 3 NUDT1 child 18_63451775_CTTC_NUDT1 2 2 1 T 0 - Microhomology-mediated 5eafecd6-3273-11e6-89f6-200f6323ba5a 7_105922080_ATTCA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 7 105922080 ATTC A 300 PASS NAMPT Del intronic 3 2 POLB child 7_105922080_ATTCA_POLB 3 3 3 TTC 1 TTC Repeat-mediated 5eba9a32-3273-11e6-aa3b-ca60a178171f 13_85111818_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 85111818 GA G 480 PASS - Del - 1 9 MSH6 child 13_85111818_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5ec001c2-3299-11e6-8dc6-b86ca178171f 6_157065837_GAG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 6 157065837 GA G 540 PASS - Del - 1 9 NEIL1 child 6_157065837_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 5ec673b0-3256-11e6-9d15-298312ae24cf X_12115087_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 12115087 CA C 540 PASS - Del - 1 9 MSH6 child X_12115087_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5ecdf062-3289-11e6-b686-d35a51c54cdd 4_169299911_TCT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 169299911 TC T 720 PASS DDX60L Del intronic 1 1 EXO1 child 4_169299911_TCT_EXO1 1 1 0 - 0 C None 5ece5b88-329d-11e6-aca6-b39fcc638e3d 2_229614854_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 229614854 TA T 360 PASS - Del - 1 6 MSH6 child 2_229614854_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 5ed651ac-3276-11e6-8c34-46e27872c165 5_68278801_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 68278801 GA G 480 PASS 7SK Del intronic 1 9 MSH6 child 5_68278801_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5ed69006-328d-11e6-b805-77090e01a414 2_12305048_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 12305048 A AT 420 PASS AC096559.1 Ins intronic 1 7 MSH6 child 2_12305048_AAT_MSH6 1 1 - - - - Ins 5ed6e9ce-3289-11e6-8b67-086ea2c71c31 1_207254072_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 207254072 G GT 420 PASS PFKFB2 Ins 3prime_UTR_variant 1 7 MSH6 child 1_207254072_GGT_MSH6 1 1 - - - - Ins 5ed93c0a-3271-11e6-bfa3-628a0cfb5812 X_49112538_TGAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA X 49112538 TGA T 1140 PASS FOXP3 Del intronic 2 2 POLB child X_49112538_TGAT_POLB 2 2 2 GA 1 GA Repeat-mediated 5edf9016-3279-11e6-92bd-d96cf7be831b 13_62046366_ATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 13 62046366 AT A 480 PASS - Del - 1 4 FANCC parent 13_62046366_ATA_FANCC 1 1 1 T 3 T Repeat-mediated 5ee747ac-329c-11e6-bda6-065325c9da85 13_79658092_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 79658092 A AT 360 PASS - Ins - 1 5 MSH6 child 13_79658092_AAT_MSH6 1 1 - - - - Ins 5ee8f536-3277-11e6-a71d-236235cec73b X_109219004_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 109219004 CT C 720 PASS - Del - 1 9 MSH6 child X_109219004_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5efbee90-3284-11e6-94b4-11d09b6d3b88 22_45357825_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 22 45357825 AT A 420 PASS PHF21B Del intronic 1 8 EXO1 child 22_45357825_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 5efcacba-326e-11e6-9d68-ac9acab49462 15_79979853_ATTGGTCACCATAAAAAGTATGTTGCCCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 79979853 ATTGGTCACCATAAAAAGTATGTTGCCC A 420 PASS - Del - 27 1 MSH6 child 15_79979853_ATTGGTCACCATAAAAAGTATGTTGCCCA_MSH6 27 >=10 4 TTGG 0 - Microhomology-mediated 5efe8998-328e-11e6-8f31-bfe16f39e758 9_33147261_TTCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 33147261 TTC T 300 PASS B4GALT1 Del intronic 2 1 MSH6 child 9_33147261_TTCT_MSH6 2 2 0 - 0 - None 5f13672a-3291-11e6-9d97-efe56f39e758 4_184078649_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 184078649 AT A 360 PASS WWC2 Del intronic 1 9 MSH6 child 4_184078649_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5f203f3a-3274-11e6-8e5a-ca301daa6045 18_69082272_TTAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 18 69082272 TTA T 360 PASS - Del - 2 8 EXO1 child 18_69082272_TTAT_EXO1 2 2 2 TA 7 TA Repeat-mediated 5f207c1a-3284-11e6-bc59-aceb1f4bbf9c 8_65575333_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 8 65575333 CA C 540 PASS CYP7B1 Del intronic 1 9 EXO1 child 8_65575333_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 5f22d13c-3288-11e6-b9eb-c78fa2c71c31 6_42829580_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 42829580 TA T 420 PASS GLTSCR1L Del intronic 1 7 MSH6 child 6_42829580_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5f270136-3291-11e6-b81f-4ee66f39e758 8_115047244_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 115047244 AT A 420 PASS - Del - 1 7 MSH6 child 8_115047244_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5f2e970a-3289-11e6-821d-8c090e01a414 13_25881699_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 25881699 AT A 600 PASS NUPL1 Del intronic 1 9 MSH6 child 13_25881699_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5f309378-3259-11e6-a39a-dc8512ae24cf 8_113146612_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 113146612 TA T 480 PASS - Del - 1 5 MSH6 child 8_113146612_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 5f32e59e-3284-11e6-870e-6af1bbe6aa09 19_2695009_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 2695009 CA C 540 PASS GNG7 Del intronic 1 8 MSH6 child 19_2695009_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5f346104-3288-11e6-a8ac-a28ea2c71c31 3_67868631_AAGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 67868631 AAG A 960 PASS RP11-81N13.1 Del intronic 2 5 MSH6 child 3_67868631_AAGA_MSH6 2 2 2 AG 4 AG Repeat-mediated 5f36b1c8-3276-11e6-83cd-a472a178171f 4_96147974_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 96147974 GT G 480 PASS UNC5C Del intronic 1 9 MSH6 child 4_96147974_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 5f3d8c08-3291-11e6-9401-04ed6f39e758 3_99224500_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 99224500 AT A 480 PASS RP11-779P15.2 Del downstream 1 8 MSH6 child 3_99224500_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 5f4d2380-3277-11e6-9608-84e46de4ab00 7_122176624_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 122176624 GA G 360 PASS CADPS2 Del intronic 1 6 EXO1 child 7_122176624_GAG_EXO1 1 1 1 A 5 A Repeat-mediated 5f50712e-328c-11e6-b9c4-751d0e01a414 5_8951319_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 8951319 AT A 660 PASS - Del - 1 5 MSH6 child 5_8951319_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 5f51deea-3275-11e6-998e-ba48fa52e078 8_25307748_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 25307748 TA T 300 PASS KCTD9 Del intronic 1 8 MSH6 child 8_25307748_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 5f569a66-328e-11e6-bec1-ca1d0e01a414 X_89727973_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 89727973 TA T 276 PASS - Del - 1 7 MSH6 child X_89727973_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 5f570244-3257-11e6-a39a-dc8512ae24cf 8_43329720_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 43329720 TA T 540 PASS - Del - 1 8 MSH6 child 8_43329720_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 5f59c1e6-3257-11e6-a7ac-209a7872c165 22_17335995_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 17335995 CA C 270 PASS - Del - 1 8 MSH6 child 22_17335995_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5f5bc408-3277-11e6-ab97-84f471d7bc54 6_39206530_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 6 39206530 AT A 360 PASS - Del - 1 9 NEIL1 child 6_39206530_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 5f628efa-3290-11e6-92cf-bf2a0e01a414 6_101901074_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 101901074 CT C 420 PASS GRIK2 Del intronic 1 9 MSH6 child 6_101901074_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 5f6a43b0-3296-11e6-8ff8-970ab51afd22 X_134171040_ATA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA X 134171040 AT A 300 PASS FAM127A Del downstream 1 8 NEIL1 child X_134171040_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 5f6d5de8-3291-11e6-b3a9-d5afe7d0bdd7 4_121529760_AAGAGACTGGGCA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 121529760 AAGAGACTGGGC A 360 PASS - Del - 11 1 FANCC child 4_121529760_AAGAGACTGGGCA_FANCC 11 >=10 5 AGAGA 0 - Microhomology-mediated 5f7a6aec-3255-11e6-a304-347a7872c165 1_120118822_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 120118822 CA C 900 PASS - Del - 1 9 MSH6 child 1_120118822_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5f853104-3285-11e6-be43-0a6ea2c71c31 10_83512403_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 83512403 TA T 420 PASS - Del - 1 8 MSH6 child 10_83512403_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 5f892a0a-3291-11e6-b81f-4ee66f39e758 8_115382230_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 115382230 GA G 493 PASS - Del - 1 7 MSH6 child 8_115382230_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 5f8fec44-328e-11e6-b4fe-93c36f39e758 12_26976767_TTAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 26976767 T TAC 600 PASS ITPR2 Ins intronic 2 6 MSH6 child 12_26976767_TTAC_MSH6 2 2 - - - - Ins 5f90190a-328c-11e6-919e-92c36f39e758 2_56678220_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 56678220 AT A 420 PASS - Del - 1 5 MSH6 child 2_56678220_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 5f9a09f6-328c-11e6-bec1-ca1d0e01a414 X_2485871_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 2485871 CA C 360 PASS - Del - 1 8 MSH6 child X_2485871_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5f9af136-32a0-11e6-bc66-17b4cc638e3d 8_101369077_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 101369077 CT C 420 PASS - Del - 1 8 MSH6 child 8_101369077_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 5fac6980-3254-11e6-81f9-42f212ae24cf 17_41434670_CCTTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 41434670 CCTT C 780 PASS - Del - 3 2 MSH6 child 17_41434670_CCTTC_MSH6 3 3 3 CTT 1 CTT Repeat-mediated 5fad1af6-328b-11e6-a8b1-14ec54de4fc4 11_97272575_GGT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 11 97272575 G GT 360 PASS - Ins - 1 7 CHK2 child 11_97272575_GGT_CHK2 1 1 - - - - Ins 5fadfa84-329f-11e6-94ca-0aaecc638e3d X_116236723_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 116236723 CA C 540 PASS - Del - 1 8 MSH6 child X_116236723_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 5faf05be-3254-11e6-a70f-7c832aaffa45 17_4836914_CCCTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 17 4836914 CCCT C 600 PASS GP1BA Del inframe 3 3 POLM child 17_4836914_CCCTC_POLM 3 3 3 CCT 2 CCT Repeat-mediated 5fb900aa-329a-11e6-b74d-b59fcc638e3d 18_36206868_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 36206868 AT A 480 PASS - Del - 1 7 MSH6 child 18_36206868_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 5fba4ef4-328d-11e6-bd84-429305ad5bc4 1_246013830_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 246013830 CA C 600 PASS SMYD3 Del intronic 1 9 MSH6 child 1_246013830_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5fbe13fa-3255-11e6-a4a7-35f212ae24cf 14_41528309_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 41528309 A AT 600 PASS - Ins - 1 6 MSH6 child 14_41528309_AAT_MSH6 1 1 - - - - Ins 5fc617ae-329f-11e6-bc2c-2a5e25c9da85 4_159123457_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 159123457 AT A 420 PASS TMEM144 Del intronic 1 9 MSH6 child 4_159123457_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 5fc908f2-3258-11e6-91d3-a68412ae24cf 7_142596065_CCTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 142596065 CCT C 660 PASS - Del - 2 6 MSH6 child 7_142596065_CCTC_MSH6 2 2 2 CT 5 CT Repeat-mediated 5fcd1eb6-3293-11e6-9280-9ce5d0959d89 11_97868570_CTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 11 97868570 CT C 360 PASS - Del - 1 8 POLB child 11_97868570_CTC_POLB 1 1 1 T 7 T Repeat-mediated 5fd95ad4-327d-11e6-8559-4f7ef7be831b 5_120376355_TAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 5 120376355 TA T 720 PASS - Del - 1 8 FANCC parent 5_120376355_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 5fdd59a0-329a-11e6-8069-175325c9da85 12_29251287_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 29251287 CA C 780 PASS - Del - 1 9 MSH6 child 12_29251287_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 5fe6ff0a-3254-11e6-9f9d-2c7a7872c165 12_55991444_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 55991444 GA G 660 PASS - Del - 1 9 MSH6 child 12_55991444_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 5ff0fbca-326f-11e6-b77c-ce5aceda8250 11_51539463_AAACTTTTATTGAGA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 11 51539463 AAACTTTTATTGAG A 420 PASS - Del - 13 1 POLM child 11_51539463_AAACTTTTATTGAGA_POLM 13 >=10 2 AA 0 - Microhomology-mediated 5ff67922-328f-11e6-aa67-b667694da5d2 5_9365872_TTTGT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 5 9365872 TTTG T 660 PASS SEMA5A Del intronic 3 3 POLM child 5_9365872_TTTGT_POLM 3 3 3 TTG 2 TTG Repeat-mediated 5ffedd3a-3292-11e6-8d18-13cc0d01a414 20_45617750_GCG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 45617750 GC G 360 PASS EYA2 Del intronic 1 6 MSH6 child 20_45617750_GCG_MSH6 1 1 1 C 5 C Repeat-mediated 6008c2a6-329b-11e6-aca6-b39fcc638e3d 2_105280529_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 105280529 TA T 480 PASS AC013402.5 Del intronic 1 9 MSH6 child 2_105280529_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 600f1dda-3323-11e6-8301-82209a696edf 18_35777274_CCGT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 18 35777274 C CGT 660 PASS - Ins - 2 0 EXO1 child 18_35777274_CCGT_EXO1 2 2 - - - - Ins 60114278-3287-11e6-b32c-fd87a2c71c31 5_125410057_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 125410057 TA T 360 PASS RP11-114J13.1 Del downstream 1 9 MSH6 child 5_125410057_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 601591f6-3292-11e6-b77d-2eef6f39e758 6_129417500_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 129417500 CA C 780 PASS LAMA2 Del intronic 1 6 MSH6 child 6_129417500_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 6019eb3a-3291-11e6-9401-04ed6f39e758 3_99651328_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 99651328 AT A 360 PASS FILIP1L Del intronic 1 9 MSH6 child 3_99651328_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 601e9750-3275-11e6-88b6-40832aaffa45 1_168753841_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 168753841 TA T 540 PASS LINC00626 Del upstream 1 9 EXO1 child 1_168753841_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 60257ef6-3281-11e6-befb-a32236fc2f7d 2_57093228_ATA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 2 57093228 AT A 300 PASS - Del - 1 7 NUDT1 child 2_57093228_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated 60410146-3324-11e6-a632-bec270cce0de 15_30105201_GGA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 15 30105201 G GA 480 PASS TJP1 Ins intronic 1 9 EXO1 child 15_30105201_GGA_EXO1 1 1 - - - - Ins 60496fbe-326d-11e6-b9f4-5d1d694da5d2 14_72511433_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 72511433 CA C 420 PASS RGS6 Del intronic 1 7 MSH6 child 14_72511433_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 604a2b1a-329b-11e6-a0ea-135325c9da85 15_73003449_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 73003449 GT G 540 PASS BBS4 Del intronic 1 8 MSH6 child 15_73003449_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 604caa40-3276-11e6-8c46-ff5e90e2c2e6 4_54862960_GTG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 4 54862960 GT G 540 PASS RP11-571I18.4 Del downstream 1 9 POLB child 4_54862960_GTG_POLB 1 1 1 T 8 T Repeat-mediated 6052e6ac-327c-11e6-96f9-44dab41afd22 17_60361806_TTCTCT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 17 60361806 TTCTC T 281 PASS - Del - 4 4 POLM child 17_60361806_TTCTCT_POLM 4 4 4 TCTC 2 TC Repeat-mediated 6055e67c-326d-11e6-9793-9a8fb0dab373 13_73435947_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 73435947 GA G 300 PASS PIBF1 Del intronic 1 6 MSH6 child 13_73435947_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 606d1f48-334b-11e6-9c63-4b9e38e8a824 8_99742279_ACA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 8 99742279 AC A 360 PASS STK3 Del intronic 1 2 FANCC child 8_99742279_ACA_FANCC 1 1 1 C 1 C Repeat-mediated 60870d48-3285-11e6-a0a8-096ea2c71c31 11_93356177_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 93356177 GT G 360 PASS - Del - 1 9 MSH6 child 11_93356177_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 608fc7be-3292-11e6-9401-04ed6f39e758 3_170062553_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 170062553 GA G 300 PASS RP11-543D10.2 Del upstream 1 6 MSH6 child 3_170062553_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 6090fea2-3348-11e6-b3a1-d0f2137bb207 5_14022214_GAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 5 14022214 GA G 540 PASS - Del - 1 9 FANCC child 5_14022214_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 60a32fa8-326e-11e6-9d68-ac9acab49462 15_80163714_AAAGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 80163714 AAAG A 300 PASS MTHFS Del intronic 3 2 MSH6 child 15_80163714_AAAGA_MSH6 3 3 3 AAG 1 AAG Repeat-mediated 60ab67f4-3255-11e6-8ebc-3ef212ae24cf 15_81151423_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 81151423 CT C 420 PASS KIAA1199 Del intronic 1 8 MSH6 child 15_81151423_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 60c05c32-3321-11e6-a0d4-d30675253f64 18_144246_TTA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 18 144246 T TA 360 PASS - Ins - 1 9 CHK2 child 18_144246_TTA_CHK2 1 1 - - - - Ins 60c9ff90-3320-11e6-b981-016519a91649 2_15876709_TCT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 2 15876709 TC T 840 PASS - Del - 1 2 CHK2 child 2_15876709_TCT_CHK2 1 1 1 C 1 C Repeat-mediated 60cc3f58-3285-11e6-91a0-67a635cec73b 10_130073759_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 10 130073759 GA G 1200 PASS - Del - 1 8 POLE child 10_130073759_GAG_POLE 1 1 1 A 7 A Repeat-mediated 60d0ba86-3273-11e6-a5d0-4fd14a47a305 2_85637955_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 85637955 AT A 360 PASS CAPG Del upstream 1 8 MSH6 child 2_85637955_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 60d52532-3271-11e6-8418-1c5942c4520d 3_134655412_CGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 134655412 CG C 360 PASS EPHB1 Del intronic 1 1 MSH6 child 3_134655412_CGC_MSH6 1 1 0 - 0 G None 60d7e738-3274-11e6-90ac-b4c37872c165 8_107721656_TCAAAAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 107721656 TCAAAA T 480 PASS OXR1 Del intronic 5 1 NEIL1 child 8_107721656_TCAAAAT_NEIL1 5 5 2 CA 0 - Microhomology-mediated 60dd2330-3321-11e6-898e-96c25d753391 11_118891594_GTG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 11 118891594 GT G 600 PASS TRAPPC4 Del intronic 1 7 CHK2 parent 11_118891594_GTG_CHK2 1 1 1 T 6 T Repeat-mediated 60de7658-3287-11e6-a8ad-04770d016689 9_121024992_CCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 9 121024992 C CT 780 PASS - Ins - 1 7 EXO1 child 9_121024992_CCT_EXO1 1 1 - - - - Ins 60e69e22-326f-11e6-819e-9d1aa20b69d5 11_40558245_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 40558245 CT C 360 PASS LRRC4C Del intronic 1 9 EXO1 parent 11_40558245_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 60ebadcc-328d-11e6-9777-62d8191589db 5_104254958_AATTTAATTTTTTTCACAGTTGAAACCATTGCTATTTTTTCTA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 104254958 AATTTAATTTTTTTCACAGTTGAAACCATTGCTATTTTTTCT A 840 PASS CTD-2374C24.1 Del intronic 41 1 FANCC child 5_104254958_AATTTAATTTTTTTCACAGTTGAAACCATTGCTATTTTTTCTA_FANCC 41 >=10 2 AT 0 - Microhomology-mediated 60f54510-3276-11e6-92d2-c259c225ee11 3_3739987_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 3739987 TA T 420 PASS - Del - 1 8 MSH6 child 3_3739987_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 60f9ed7e-328d-11e6-b9c4-751d0e01a414 5_73387916_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 73387916 CT C 360 PASS CTD-2292M14.1 Del intronic 1 8 MSH6 child 5_73387916_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 6107fec4-3255-11e6-9f9d-2c7a7872c165 12_121599159_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 121599159 AT A 360 PASS P2RX7 Del intronic 1 8 MSH6 child 12_121599159_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 61093c54-329f-11e6-94ca-0aaecc638e3d X_117176442_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 117176442 CA C 480 PASS KLHL13 Del intronic 1 7 MSH6 child X_117176442_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 611c36b6-3285-11e6-be43-0a6ea2c71c31 10_84306117_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 84306117 GT G 540 PASS NRG3 Del intronic 1 9 MSH6 child 10_84306117_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 6124744c-329a-11e6-9048-b49fcc638e3d 17_22081567_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 22081567 GA G 420 PASS - Del - 1 9 MSH6 child 17_22081567_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 613e7baa-32a2-11e6-aea7-956725c9da85 3_52294966_AAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 52294966 A AC 480 PASS WDR82 Ins intronic 1 3 MSH6 child 3_52294966_AAC_MSH6 1 1 - - - - Ins 61404f46-3286-11e6-a21c-b819bce6aa09 X_18482664_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 18482664 AC A 600 PASS CDKL5 Del intronic 1 1 MSH6 child X_18482664_ACA_MSH6 1 1 0 - 0 C None 61481392-329b-11e6-b129-195325c9da85 16_71124365_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 71124365 TA T 410 PASS HYDIN Del intronic 1 5 MSH6 child 16_71124365_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 614d8e7c-3286-11e6-a21c-b819bce6aa09 X_18498239_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 18498239 CT C 480 PASS CDKL5 Del intronic 1 9 MSH6 child X_18498239_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6153f82c-328e-11e6-b8ba-0ad9191589db 8_79249382_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 8 79249382 AT A 360 PASS - Del - 1 5 FANCC child 8_79249382_ATA_FANCC 1 1 1 T 4 T Repeat-mediated 61560f5a-326f-11e6-9f48-94df41c4520d 12_86502194_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 86502194 C CT 360 PASS MGAT4C Ins intronic 1 7 MSH6 child 12_86502194_CCT_MSH6 1 1 - - - - Ins 6157ad6e-3289-11e6-94b1-74090e01a414 17_6732123_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 6732123 CT C 540 PASS TEKT1 Del intronic 1 9 MSH6 child 17_6732123_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 615dd2a2-3275-11e6-abaf-4642cab49462 6_79274549_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 79274549 T TA 600 PASS - Ins - 1 7 MSH6 child 6_79274549_TTA_MSH6 1 1 - - - - Ins 61609f60-3288-11e6-8404-8e1fbce6aa09 8_121279346_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 121279346 AT A 720 PASS COL14A1 Del intronic 1 8 MSH6 child 8_121279346_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6162f8c2-328e-11e6-bb1e-70e16f39e758 X_50066565_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 50066565 TA T 993 PASS CCNB3 Del intronic 1 8 MSH6 child X_50066565_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 61664312-3278-11e6-a76d-26961565c797 1_199425021_AAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 199425021 A AC 540 PASS - Ins - 1 3 EXO1 child 1_199425021_AAC_EXO1 1 1 - - - - Ins 6172520e-32a2-11e6-b970-398625c9da85 20_2481014_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 2481014 AT A 780 PASS ZNF343 Del intronic 1 6 MSH6 child 20_2481014_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 6177074a-328e-11e6-84e9-d36dfd44d094 2_208002473_CCTCTC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 2 208002473 CCTCT C 600 PASS KLF7 Del intronic 4 5 POLM child 2_208002473_CCTCTC_POLM 4 4 4 CTCT 3 CT Repeat-mediated 617c6244-3289-11e6-8eee-76090e01a414 10_9586976_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 9586976 GT G 360 PASS - Del - 1 9 MSH6 child 10_9586976_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 61834b30-328a-11e6-a32d-75090e01a414 14_87565215_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 87565215 TA T 300 PASS - Del - 1 6 MSH6 child 14_87565215_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 6187d014-3286-11e6-bb1d-5179a178171f 13_64853662_CTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 13 64853662 CT C 300 PASS - Del - 1 7 FANCC child 13_64853662_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 618e10d8-3294-11e6-92f4-38f3d8b4fa2c 9_80741738_ATA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 9 80741738 AT A 480 PASS - Del - 1 7 NUDT1 child 9_80741738_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated 6192c2b6-327d-11e6-b10b-a867faf1a024 1_87535114_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 1 87535114 TA T 540 PASS HS2ST1 Del intronic 1 8 POLB parent 1_87535114_TAT_POLB 1 1 1 A 7 A Repeat-mediated 619ce678-3297-11e6-8879-9b3e8cd8cd69 1_92932005_CAAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 1 92932005 CAA C 900 PASS - Del - 2 3 CHK2 child 1_92932005_CAAC_CHK2 2 2 1 A 0 - Microhomology-mediated 61a4d20e-3286-11e6-a1c7-605851c54cdd X_7755156_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA X 7755156 TA T 720 PASS - Del - 1 5 EXO1 child X_7755156_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 61a8a67c-3272-11e6-af89-7600ebb8d062 5_57246007_GTTTGGGGTGGTGCAATGTATGATCTGAG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 5 57246007 GTTTGGGGTGGTGCAATGTATGATCTGA G 840 PASS - Del - 27 1 NUDT1 child 5_57246007_GTTTGGGGTGGTGCAATGTATGATCTGAG_NUDT1 27 >=10 1 T 0 - Microhomology-mediated 61ae9030-3274-11e6-a5d0-4fd14a47a305 2_175030696_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 175030696 CA C 540 PASS OLA1 Del intronic 1 7 MSH6 child 2_175030696_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 61bab206-3284-11e6-be43-0a6ea2c71c31 10_3881232_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 3881232 CA C 420 PASS RP11-464C19.2 Del downstream 1 9 MSH6 child 10_3881232_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 61baf372-3290-11e6-9432-c0e56f39e758 5_126846689_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 126846689 TA T 540 PASS - Del - 1 8 MSH6 child 5_126846689_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 61be6922-3258-11e6-91d3-a68412ae24cf 7_143743447_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 143743447 AT A 420 PASS OR2A5 Del upstream 1 7 MSH6 child 7_143743447_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 61c0d246-3273-11e6-975f-8246cab49462 16_58633972_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 58633972 GA G 720 PASS CNOT1 Del intronic 1 9 MSH6 child 16_58633972_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 61c1ad60-3287-11e6-8734-49a538e8a824 15_41976372_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 15 41976372 AT A 720 PASS MGA Del intronic 1 1 NUDT1 parent 15_41976372_ATA_NUDT1 1 1 0 - 0 T None 61c8a56e-3293-11e6-b0cf-8b7219a91649 7_56019338_AAAG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 56019338 A AAG 300 PASS MRPS17 Ins upstream 2 0 NEIL1 child 7_56019338_AAAG_NEIL1 2 2 - - - - Ins 61c8aafa-328e-11e6-88c7-2ba6e7d0bdd7 6_45414224_CTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 6 45414224 CT C 480 PASS RUNX2 Del intronic 1 7 POLM child 6_45414224_CTC_POLM 1 1 1 T 6 T Repeat-mediated 61d375c2-326e-11e6-92dd-fda8977b3f23 10_127643500_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 127643500 TA T 420 PASS FANK1 Del intronic 1 7 MSH6 child 10_127643500_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 61d8fca8-329c-11e6-a0ea-135325c9da85 15_98198731_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 98198731 CT C 300 PASS - Del - 1 7 MSH6 child 15_98198731_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 61e518f6-328f-11e6-92cf-bf2a0e01a414 6_34911064_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 34911064 CA C 300 PASS ANKS1A Del intronic 1 5 MSH6 child 6_34911064_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 61e60dc6-328d-11e6-8770-3e160e01a414 9_126570834_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 126570834 AT A 600 PASS DENND1A Del intronic 1 7 MSH6 child 9_126570834_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 61ee0900-328c-11e6-bdca-61cc977b3f23 10_67217074_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 10 67217074 TA T 780 PASS - Del - 1 8 NEIL1 child 10_67217074_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 61efa8aa-3273-11e6-9309-bdc34a47a305 8_136166983_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 136166983 T TA 383 PASS - Ins - 1 0 MSH6 child 8_136166983_TTA_MSH6 1 1 - - - - Ins 61f1d508-32a0-11e6-bc66-17b4cc638e3d 8_102060076_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 102060076 CT C 600 PASS RP11-302J23.1 Del upstream 1 9 MSH6 child 8_102060076_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 61f38e46-3289-11e6-bc2b-e5cd191589db 12_25756220_ATAGTA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 12 25756220 ATAGT A 360 PASS IFLTD1 Del intronic 4 1 FANCC child 12_25756220_ATAGTA_FANCC 4 4 2 TA 0 - Microhomology-mediated 61fbc102-328d-11e6-aa75-90c36f39e758 13_35740325_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 35740325 T TA 780 PASS NBEA Ins intronic 1 7 MSH6 child 13_35740325_TTA_MSH6 1 1 - - - - Ins 6205f48c-329d-11e6-a0ea-135325c9da85 15_60595311_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 60595311 A AT 720 PASS - Ins - 1 7 MSH6 child 15_60595311_AAT_MSH6 1 1 - - - - Ins 62073624-3277-11e6-83cd-a472a178171f 4_166935060_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 166935060 CT C 840 PASS TLL1 Del intronic 1 8 MSH6 child 4_166935060_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 620ae59e-3272-11e6-a812-e11198ba1142 9_11882198_CCA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 11882198 C CA 480 PASS - Ins - 1 6 EXO1 parent 9_11882198_CCA_EXO1 1 1 - - - - Ins 62123480-328f-11e6-9230-fb250e01a414 3_99349240_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 99349240 CT C 600 PASS - Del - 1 7 MSH6 child 3_99349240_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 621c236a-3289-11e6-821d-8c090e01a414 13_26580187_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 26580187 CA C 300 PASS ATP8A2 Del intronic 1 8 MSH6 child 13_26580187_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 621ec806-326e-11e6-9fba-41ebd8b4fa2c 11_67246073_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 67246073 CT C 480 PASS AIP Del upstream 1 8 MSH6 child 11_67246073_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 6220e970-329a-11e6-b549-1e5325c9da85 10_29812505_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 29812505 TC T 420 PASS SVIL Del frameshift 1 4 MSH6 child 10_29812505_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 6220f698-3283-11e6-9881-48b254de4fc4 5_108436127_AGAAGGATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 5 108436127 AGAAGGAT A 480 PASS FER Del frameshift 7 1 FANCC child 5_108436127_AGAAGGATA_FANCC 7 7 3 GAA 0 - Microhomology-mediated 62278032-329a-11e6-b74d-b59fcc638e3d 18_36537439_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 36537439 GA G 900 PASS - Del - 1 9 MSH6 child 18_36537439_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 622c1bfe-326f-11e6-a539-0e5542c4520d 7_25039693_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 25039693 CT C 655 PASS - Del - 1 9 MSH6 child 7_25039693_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 62328598-3297-11e6-8879-9b3e8cd8cd69 1_93278015_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 1 93278015 CA C 720 PASS - Del - 1 5 CHK2 child 1_93278015_CAC_CHK2 1 1 1 A 4 A Repeat-mediated 6237009c-3291-11e6-bd26-49b0e7d0bdd7 7_104048111_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 7 104048111 TA T 360 PASS LHFPL3 Del intronic 1 7 FANCC child 7_104048111_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 6238d2b0-3281-11e6-a62e-ba6f2aaffa45 10_62784999_CTC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 10 62784999 CT C 300 PASS LINC00845 Del intronic 1 7 POLE child 10_62784999_CTC_POLE 1 1 1 T 6 T Repeat-mediated 623bdbba-328e-11e6-bec1-ca1d0e01a414 X_90890516_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 90890516 GT G 280 PASS - Del - 1 9 MSH6 child X_90890516_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 623e23f0-326d-11e6-acc7-e55219a91649 1_81582345_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 81582345 CT C 300 PASS - Del - 1 8 MSH6 child 1_81582345_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 623fb100-3292-11e6-9432-c0e56f39e758 5_90128147_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 90128147 A AT 960 PASS GPR98 Ins intronic 1 2 MSH6 child 5_90128147_AAT_MSH6 1 1 - - - - Ins 62406d34-3346-11e6-b5ef-938f38e8a824 13_91517022_GGTTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 13 91517022 GGTT G 420 PASS - Del - 3 2 FANCC child 13_91517022_GGTTG_FANCC 3 3 3 GTT 1 GTT Repeat-mediated 62431fb4-328f-11e6-bb1e-70e16f39e758 X_79145983_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 79145983 GA G 360 PASS - Del - 1 9 MSH6 child X_79145983_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 62436ad0-32a0-11e6-bc2c-2a5e25c9da85 4_19035266_TTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 19035266 T TG 480 PASS - Ins - 1 7 MSH6 child 4_19035266_TTG_MSH6 1 1 - - - - Ins 62442fd8-325a-11e6-91d3-a68412ae24cf 7_129646233_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 129646233 A AT 300 PASS - Ins - 1 7 MSH6 child 7_129646233_AAT_MSH6 1 1 - - - - Ins 62455872-3278-11e6-b562-fe54dcd214c4 5_156399824_TTTA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 5 156399824 T TTA 360 PASS - Ins - 2 0 NUDT1 child 5_156399824_TTTA_NUDT1 2 2 - - - - Ins 624fa50a-3270-11e6-b89d-b2d6b0dab373 4_57717799_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 57717799 AC A 540 PASS - Del - 1 2 MSH6 child 4_57717799_ACA_MSH6 1 1 1 C 1 C Repeat-mediated 62556c9e-32a0-11e6-bc66-17b4cc638e3d 8_102156363_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 102156363 CT C 600 PASS KB-1460A1.3 Del downstream 1 7 MSH6 child 8_102156363_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 625a431c-325b-11e6-885f-d1947872c165 4_177556226_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 177556226 G GT 420 PASS - Ins - 1 7 MSH6 child 4_177556226_GGT_MSH6 1 1 - - - - Ins 625d4b08-3273-11e6-a721-59c27872c165 5_180536474_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 5 180536474 AT A 360 PASS - Del - 1 8 NEIL1 child 5_180536474_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 626c4506-328f-11e6-9230-fb250e01a414 3_99592464_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 99592464 GT G 1020 PASS FILIP1L Del intronic 1 8 MSH6 child 3_99592464_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 628c86fe-3294-11e6-92f4-38f3d8b4fa2c 9_81027936_GTGTATATATGTATATATGTGTATATAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 9 81027936 GTGTATATATGTATATATGTGTATATA G 300 PASS - Del - 26 1 NUDT1 child 9_81027936_GTGTATATATGTATATATGTGTATATAG_NUDT1 26 >=10 11 TGTATATATGT 1 TA Microhomology-mediated 629d28be-3254-11e6-8a2a-3af212ae24cf 16_51946274_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 51946274 TA T 660 PASS - Del - 1 9 MSH6 child 16_51946274_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 62a57eea-3323-11e6-84e3-a2cceab8d062 2_240229353_CAAC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 2 240229353 CAA C 540 PASS HDAC4 Del intronic 2 2 CHK2 parent 2_240229353_CAAC_CHK2 2 2 0 - 0 - None 62a99af0-3271-11e6-b923-6726694da5d2 5_139160018_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 139160018 CT C 360 PASS CTB-35F21.5 Del downstream 1 8 MSH6 child 5_139160018_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 62b79db6-329a-11e6-b549-1e5325c9da85 10_29981592_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 29981592 AT A 780 PASS SVIL Del intronic 1 7 MSH6 child 10_29981592_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 62ba04ea-3284-11e6-8ebc-68f1bbe6aa09 18_3830685_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 3830685 TA T 420 PASS DLGAP1 Del intronic 1 7 MSH6 child 18_3830685_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 62bf78ca-326c-11e6-a740-f74aa78019ab 15_36170696_ACTTTA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 15 36170696 ACTTT A 600 PASS - Del - 4 3 POLM parent 15_36170696_ACTTTA_POLM 4 4 4 CTTT 2 CTTT Repeat-mediated 62cafb80-3273-11e6-8f33-a6d9cde16804 11_90571895_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 90571895 CA C 1080 PASS DISC1FP1 Del intronic 1 7 MSH6 child 11_90571895_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 62cb769c-3277-11e6-92d2-c259c225ee11 3_74348356_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 74348356 CA C 420 PASS CNTN3 Del intronic 1 9 MSH6 child 3_74348356_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 62d7a232-328b-11e6-b119-71c75d753391 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 22 41558882 TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGG TTAAAAATAGATAATTAT 360 PASS EP300 Complex ess_splice 1593 0 POLE child 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT_POLE 1576 >=10 - - - - Complex 62dd36de-326d-11e6-adc2-b7204b47a305 18_65046084_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 65046084 AT A 360 PASS - Del - 1 8 MSH6 child 18_65046084_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 62df419a-3281-11e6-87bb-2600bce6aa09 17_69231337_AAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 17 69231337 A AT 600 PASS - Ins - 1 5 POLM child 17_69231337_AAT_POLM 1 1 - - - - Ins 62e1f7d2-3272-11e6-90d3-9639fc77b11e 13_112646665_GTG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 13 112646665 GT G 360 PASS - Del - 1 9 MSH6 parent 13_112646665_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 62e53866-3290-11e6-9c89-8d090e01a414 1_170478926_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 170478926 T TA 960 PASS - Ins - 1 4 MSH6 child 1_170478926_TTA_MSH6 1 1 - - - - Ins 62ede7f8-3287-11e6-9a8e-d2b1f6dffcf6 1_60801938_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 60801938 CT C 420 PASS - Del - 1 9 NUDT1 parent 1_60801938_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 62f3739a-3272-11e6-bbeb-70bd19a91649 20_30502156_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 30502156 GT G 420 PASS TTLL9 Del intronic 1 7 MSH6 child 20_30502156_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 62f7dfae-328e-11e6-919e-92c36f39e758 2_195375470_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 195375470 CA C 408 PASS - Del - 1 8 MSH6 child 2_195375470_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 62f81954-3281-11e6-ba80-c6262eaed38e 2_97344783_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 2 97344783 AT A 540 PASS - Del - 1 6 POLB child 2_97344783_ATA_POLB 1 1 1 T 5 T Repeat-mediated 62fb250c-3292-11e6-9401-04ed6f39e758 3_170648864_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 170648864 CT C 720 PASS - Del - 1 9 MSH6 child 3_170648864_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 62fc1250-328d-11e6-b5d1-34059c6d3b88 13_24059928_TAAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 13 24059928 TAA T 360 PASS LINC00327 Del intronic 2 4 POLB child 13_24059928_TAAT_POLB 2 2 2 AA 2 A Repeat-mediated 630756b0-3288-11e6-a284-4b89a2c71c31 4_169563390_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 169563390 GA G 600 PASS PALLD Del intronic 1 7 MSH6 child 4_169563390_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 63099df6-3271-11e6-8418-1c5942c4520d 3_135800217_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 135800217 CT C 360 PASS PPP2R3A Del intronic 1 8 MSH6 child 3_135800217_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 630fbae0-329b-11e6-8069-175325c9da85 12_92446233_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 92446233 AT A 720 PASS C12orf79 Del intronic 1 9 MSH6 child 12_92446233_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 631721f6-3271-11e6-b4ee-9405147bb207 10_29076749_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 10 29076749 TA T 540 PASS LINC00837 Del downstream 1 7 MSH6 parent 10_29076749_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 631ceb30-329a-11e6-aca6-b39fcc638e3d 2_42193690_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 42193690 AT A 900 PASS - Del - 1 8 MSH6 child 2_42193690_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6323dfa8-329f-11e6-94ca-0aaecc638e3d X_117715307_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 117715307 TA T 480 PASS DOCK11 Del intronic 1 9 MSH6 child X_117715307_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 632a0b3a-3254-11e6-8a2a-3af212ae24cf 16_52156936_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 52156936 AT A 660 PASS - Del - 1 9 MSH6 child 16_52156936_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 632e21d4-3259-11e6-a39a-dc8512ae24cf 8_114609419_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 114609419 CA C 420 PASS - Del - 1 8 MSH6 child 8_114609419_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 63302570-328f-11e6-84a5-b1e2977b3f23 7_56006511_TCT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 7 56006511 TC T 900 PASS ZNF713 Del intronic 1 3 NEIL1 child 7_56006511_TCT_NEIL1 1 1 1 C 2 C Repeat-mediated 63379eb8-328f-11e6-a081-1bb7a178171f X_52070061_CAC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA X 52070061 CA C 540 PASS - Del - 1 9 POLE child X_52070061_CAC_POLE 1 1 1 A 8 A Repeat-mediated 633c3f6a-327e-11e6-b73f-448daea0a4d2 2_195161134_ACTA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 2 195161134 ACT A 900 PASS - Del - 2 2 POLB parent 2_195161134_ACTA_POLB 2 2 2 CT 1 CT Repeat-mediated 633ed19a-3291-11e6-9401-04ed6f39e758 3_100462369_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 100462369 CT C 360 PASS TFG Del intronic 1 9 MSH6 child 3_100462369_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6342afb4-329a-11e6-bda6-065325c9da85 13_50387988_GAATAGATGGAAAGTTGCTAGAAGGGAGTGGTTACATGCCACCAGAGTAAGCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 50387988 GAATAGATGGAAAGTTGCTAGAAGGGAGTGGTTACATGCCACCAGAGTAAGC G 660 PASS - Del - 51 1 MSH6 child 13_50387988_GAATAGATGGAAAGTTGCTAGAAGGGAGTGGTTACATGCCACCAGAGTAAGCG_MSH6 51 >=10 2 AA 0 - Microhomology-mediated 63488fca-3285-11e6-b093-c9c7b0dab373 2_76078432_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 76078432 TA T 420 PASS - Del - 1 8 MSH6 child 2_76078432_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 634abca8-328c-11e6-a70a-47793adbad45 3_67907164_AAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 67907164 A AT 540 PASS RP11-81N13.1 Ins intronic 1 8 NUDT1 parent 3_67907164_AAT_NUDT1 1 1 - - - - Ins 634b3384-328e-11e6-b9c4-751d0e01a414 5_143644762_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 143644762 AT A 540 PASS KCTD16 Del intronic 1 9 MSH6 child 5_143644762_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 63538cda-3277-11e6-83cd-a472a178171f 4_167259588_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 167259588 AT A 360 PASS - Del - 1 8 MSH6 child 4_167259588_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 635c3e78-3283-11e6-ba13-7508694da5d2 8_130748410_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 8 130748410 CA C 800 PASS - Del - 1 7 NEIL1 child 8_130748410_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated 6360bf08-328c-11e6-bd84-429305ad5bc4 1_111700382_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 111700382 CA C 600 PASS CEPT1 Del intronic 1 6 MSH6 child 1_111700382_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 6362afd8-3274-11e6-b332-88ba7d6a9fc7 15_84778000_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 84778000 CT C 600 PASS - Del - 1 7 MSH6 child 15_84778000_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 636410d4-328e-11e6-9c89-8d090e01a414 1_33483921_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 33483921 G GA 300 PASS AK2 Ins intronic 1 4 MSH6 child 1_33483921_GGA_MSH6 1 1 - - - - Ins 636a3a26-329e-11e6-bc2c-2a5e25c9da85 4_95631531_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 95631531 GA G 420 PASS - Del - 1 7 MSH6 child 4_95631531_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 636d5f84-329f-11e6-a5cf-e5abcc638e3d 9_91944193_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 91944193 A AT 420 PASS SECISBP2 Ins intronic 1 9 MSH6 child 9_91944193_AAT_MSH6 1 1 - - - - Ins 636d99ea-3290-11e6-8621-65d8191589db 4_133826932_GGC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 133826932 G GC 420 PASS RP11-404I7.2 Ins intronic 1 1 FANCC child 4_133826932_GGC_FANCC 1 1 - - - - Ins 63761768-3287-11e6-a284-4b89a2c71c31 4_76922600_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 76922600 GA G 720 PASS CXCL9 Del 3prime_UTR_variant 1 8 MSH6 child 4_76922600_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 6386436c-3274-11e6-9e18-3a69671699ea 10_135249733_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 135249733 TG T 697 PASS SPRN Del intronic 1 4 MSH6 child 10_135249733_TGT_MSH6 1 1 1 G 3 G Repeat-mediated 638a75f0-3255-11e6-9ea1-7b832aaffa45 14_104106025_TCTTGGCCTCCCAAAGTGCTGGGATTACTGGTATGAGCCACCACACCCGGCCCAGATGTGAATTCTTTATTTTTATTTTATTATTTTTGAGACAGGGTCTCAACTCTGTCACCCAGGCTAGAGCACAATGGTGCAATCATGTTTCACTGCAGCCTTGATTTCCTGGACTCCAGTGATACACCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCATGTCACCACACCCAGCTAATTTTGGTATTTTTTTTTAGGATGGGGTTTTGCCATGTTTCCCTGTCTGGCTTTGAAATCCTGAGCTCAAGAGATCCACCCGCT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 14 104106025 TCTTGGCCTCCCAAAGTGCTGGGATTACTGGTATGAGCCACCACACCCGGCCCAGATGTGAATTCTTTATTTTTATTTTATTATTTTTGAGACAGGGTCTCAACTCTGTCACCCAGGCTAGAGCACAATGGTGCAATCATGTTTCACTGCAGCCTTGATTTCCTGGACTCCAGTGATACACCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCATGTCACCACACCCAGCTAATTTTGGTATTTTTTTTTAGGATGGGGTTTTGCCATGTTTCCCTGTCTGGCTTTGAAATCCTGAGCTCAAGAGATCCACCCGC T 360 PASS KLC1 Del intronic 315 1 POLM child 14_104106025_TCTTGGCCTCCCAAAGTGCTGGGATTACTGGTATGAGCCACCACACCCGGCCCAGATGTGAATTCTTTATTTTTATTTTATTATTTTTGAGACAGGGTCTCAACTCTGTCACCCAGGCTAGAGCACAATGGTGCAATCATGTTTCACTGCAGCCTTGATTTCCTGGACTCCAGTGATACACCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCATGTCACCACACCCAGCTAATTTTGGTATTTTTTTTTAGGATGGGGTTTTGCCATGTTTCCCTGTCTGGCTTTGAAATCCTGAGCTCAAGAGATCCACCCGCT_POLM 315 >=10 27 CTTGGCCTCCCAAAGTGCTGGGATTAC 0 - Microhomology-mediated 6394b316-3288-11e6-bb85-03a66f39e758 4_152440901_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 152440901 GT G 300 PASS FAM160A1 Del intronic 1 7 EXO1 child 4_152440901_GTG_EXO1 1 1 1 T 6 T Repeat-mediated 639e45a0-3320-11e6-8db2-39e579852e0e 2_36161766_GAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 2 36161766 GA G 420 PASS - Del - 1 9 POLE child 2_36161766_GAG_POLE 1 1 1 A 8 A Repeat-mediated 639eeab0-3275-11e6-bfd3-a6593dc9300a X_33068537_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA X 33068537 TA T 360 PASS DMD Del intronic 1 7 EXO1 child X_33068537_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 63ad559e-3277-11e6-8c34-46e27872c165 5_142280326_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 142280326 TA T 480 PASS ARHGAP26 Del intronic 1 9 MSH6 child 5_142280326_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 63add6ec-32a2-11e6-b696-dd6225c9da85 5_171450334_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 171450334 C CA 660 PASS - Ins - 1 9 MSH6 child 5_171450334_CCA_MSH6 1 1 - - - - Ins 63ae1ccc-328b-11e6-a8ac-a28ea2c71c31 3_192438857_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 192438857 G GA 840 PASS FGF12 Ins intronic 1 2 MSH6 child 3_192438857_GGA_MSH6 1 1 - - - - Ins 63b2b246-3259-11e6-9f82-71a92aaffa45 6_92350674_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 6 92350674 AT A 420 PASS CASC6 Del intronic 1 1 POLM child 6_92350674_ATA_POLM 1 1 0 - 0 T None 63ba8946-329d-11e6-bc66-17b4cc638e3d 8_603518_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 603518 CT C 600 PASS - Del - 1 8 MSH6 child 8_603518_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 63bdef28-3275-11e6-998e-ba48fa52e078 8_26438822_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 26438822 GT G 360 PASS DPYSL2 Del intronic 1 8 MSH6 child 8_26438822_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 63bfe25a-328a-11e6-9539-3490a178171f 3_55926819_TTGT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 55926819 TTG T 420 PASS ERC2 Del intronic 2 1 FANCC child 3_55926819_TTGT_FANCC 2 2 1 T 0 - Microhomology-mediated 63c066ce-3273-11e6-b539-d702ebb8d062 7_79886205_TGCTTGGT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 79886205 TGCTTGG T 840 PASS AC003988.1 Del intronic 6 1 NUDT1 child 7_79886205_TGCTTGGT_NUDT1 6 6 3 GCT 0 - Microhomology-mediated 63cb134a-3272-11e6-a862-bc9becf1e924 1_8536592_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 8536592 CA C 660 PASS RERE Del intronic 1 7 MSH6 child 1_8536592_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 63cbe848-3271-11e6-8418-1c5942c4520d 3_135972968_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 135972968 GT G 300 PASS PCCB Del intronic 1 8 MSH6 child 3_135972968_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 63ce86e8-3276-11e6-83cd-a472a178171f 4_97941927_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 97941927 TA T 720 PASS - Del - 1 8 MSH6 child 4_97941927_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 63d081e8-326f-11e6-9f48-94df41c4520d 12_87548669_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 87548669 G GA 420 PASS - Ins - 1 7 MSH6 child 12_87548669_GGA_MSH6 1 1 - - - - Ins 63d8c430-328c-11e6-b4fe-93c36f39e758 12_53669244_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 53669244 CA C 838 PASS ESPL1 Del intronic 1 9 MSH6 child 12_53669244_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 63e44e6e-3321-11e6-a17c-098c64f80bad 14_66396238_TGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 14 66396238 TG T 600 PASS - Del - 1 6 EXO1 child 14_66396238_TGT_EXO1 1 1 1 G 5 G Repeat-mediated 63eeeef0-3277-11e6-ae53-82ab977b3f23 3_166274868_GTTATTTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 3 166274868 GTTATTT G 360 PASS - Del - 6 1 NUDT1 child 3_166274868_GTTATTTG_NUDT1 6 6 0 - 0 - None 63f384be-326e-11e6-b306-b5204b47a305 2_158823263_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 158823263 CT C 360 PASS UPP2 Del intronic 1 8 MSH6 child 2_158823263_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 63f58fb6-329b-11e6-9048-b49fcc638e3d 17_67088098_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 67088098 TA T 420 PASS ABCA6 Del intronic 1 9 MSH6 child 17_67088098_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 63fd253e-3271-11e6-ae57-cc5566a58581 18_54731342_AGAGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 18 54731342 AGAG A 420 PASS LINC-ROR Del intronic 3 2 FANCC child 18_54731342_AGAGA_FANCC 3 3 3 GAG 1 GAG Repeat-mediated 640b1516-328c-11e6-84e9-d36dfd44d094 2_118374_GAG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 2 118374 GA G 420 PASS - Del - 1 9 POLM child 2_118374_GAG_POLM 1 1 1 A 8 A Repeat-mediated 640e90a6-32a0-11e6-94ca-0aaecc638e3d X_30733926_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 30733926 C CT 480 PASS GK Ins intronic 1 5 MSH6 child X_30733926_CCT_MSH6 1 1 - - - - Ins 640f69ca-3270-11e6-b306-b5204b47a305 2_71596779_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 71596779 A AT 420 PASS ZNF638 Ins intronic 1 8 MSH6 child 2_71596779_AAT_MSH6 1 1 - - - - Ins 64134b58-328e-11e6-919e-92c36f39e758 2_195717727_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 195717727 CT C 440 PASS - Del - 1 8 MSH6 child 2_195717727_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 641c1780-326e-11e6-b306-b5204b47a305 2_158845341_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 158845341 GA G 360 PASS UPP2 Del intronic 1 7 MSH6 child 2_158845341_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 642542e0-328e-11e6-bfa2-581f0e01a414 7_101393615_AAACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 101393615 AAAC A 720 PASS - Del - 3 3 MSH6 child 7_101393615_AAACA_MSH6 3 3 3 AAC 2 AAC Repeat-mediated 6425efe2-3270-11e6-b923-6726694da5d2 5_62727848_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 62727848 CA C 360 PASS - Del - 1 7 MSH6 child 5_62727848_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 642af51c-326d-11e6-bc62-6d4742c4520d 16_58903684_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 58903684 AT A 420 PASS RP11-410D17.2 Del intronic 1 9 MSH6 child 16_58903684_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 642b5182-3296-11e6-b38a-97f8d8b4fa2c 4_141432867_CAC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 4 141432867 CA C 360 PASS - Del - 1 8 NUDT1 child 4_141432867_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 642d25ec-328d-11e6-b6a6-1f1e0e01a414 4_56840728_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 56840728 CT C 300 PASS CEP135 Del intronic 1 8 MSH6 child 4_56840728_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 64396d1c-3287-11e6-a5b3-3f1ebce6aa09 7_88545369_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 88545369 TA T 300 PASS ZNF804B Del intronic 1 8 MSH6 child 7_88545369_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 643f800c-3283-11e6-8500-13197e6a9fc7 1_14734911_CCAGACT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 1 14734911 CCAGA CT 360 PASS - Complex - 4 0 POLB child 1_14734911_CCAGACT_POLB 3 3 - - - - Complex 6440bb52-3274-11e6-9e18-3a69671699ea 10_135458786_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 135458786 CT C 458 PASS - Del - 1 5 MSH6 child 10_135458786_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 644e014e-3293-11e6-b81f-4ee66f39e758 8_113753941_GGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 113753941 G GC 420 PASS CSMD3 Ins intronic 1 7 MSH6 child 8_113753941_GGC_MSH6 1 1 - - - - Ins 646d3752-3294-11e6-9401-04ed6f39e758 3_111747288_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 111747288 A AT 660 PASS - Ins - 1 3 MSH6 child 3_111747288_AAT_MSH6 1 1 - - - - Ins 646f0e2c-3273-11e6-abaf-4642cab49462 6_124923455_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 124923455 AT A 300 PASS NKAIN2 Del intronic 1 6 MSH6 child 6_124923455_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 647145fa-3284-11e6-9daa-026ea2c71c31 14_22059262_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 22059262 TC T 360 PASS - Del - 1 1 MSH6 child 14_22059262_TCT_MSH6 1 1 0 - 0 C None 6475223a-3273-11e6-8f33-a6d9cde16804 11_91210973_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 91210973 CA C 360 PASS - Del - 1 9 MSH6 child 11_91210973_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 647775fa-328a-11e6-9340-3a91e7d0bdd7 12_2674695_TTTGGTGTTGGGGCT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 12 2674695 TTTGGTGTTGGGGC T 452 PASS CACNA1C Del intronic 13 1 POLM child 12_2674695_TTTGGTGTTGGGGCT_POLM 13 >=10 3 TTG 0 - Microhomology-mediated 647ed1d8-3271-11e6-bfba-13bf4a47a305 9_136684718_TTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 136684718 T TG 300 PASS VAV2 Ins intronic 1 6 MSH6 child 9_136684718_TTG_MSH6 1 1 - - - - Ins 6482e1aa-3272-11e6-abaf-4642cab49462 6_52454901_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 52454901 AT A 300 PASS - Del - 1 1 MSH6 child 6_52454901_ATA_MSH6 1 1 0 - 0 T None 6489eb00-329d-11e6-bc2c-2a5e25c9da85 4_32141836_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 32141836 TA T 600 PASS RP11-734I18.1 Del intronic 1 5 MSH6 child 4_32141836_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 64909776-3288-11e6-a21c-b819bce6aa09 X_38414376_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 38414376 C CT 660 PASS - Ins - 1 5 MSH6 child X_38414376_CCT_MSH6 1 1 - - - - Ins 64952e36-3273-11e6-83ef-69fb06e9a829 18_69189483_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 69189483 TA T 300 PASS RP11-510D19.1 Del nc_variant 1 6 MSH6 child 18_69189483_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 649ef896-3271-11e6-949c-85d3ed3c4f5d 19_14369602_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 19 14369602 CT C 480 PASS CTD-2189E23.1 Del intronic 1 7 MSH6 parent 19_14369602_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 64b35b56-3285-11e6-be43-0a6ea2c71c31 10_85681586_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 85681586 TA T 480 PASS - Del - 1 6 MSH6 child 10_85681586_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 64b6c9dc-326f-11e6-bfba-13bf4a47a305 9_99764195_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 99764195 GA G 305 PASS HIATL2 Del intronic 1 9 MSH6 child 9_99764195_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 64c7e58e-3281-11e6-9e54-079882d12d16 12_99807373_ACTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 12 99807373 ACT A 300 PASS ANKS1B Del intronic 2 2 FANCC child 12_99807373_ACTA_FANCC 2 2 2 CT 1 CT Repeat-mediated 64d040b4-329d-11e6-aca6-b39fcc638e3d 2_231368878_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 231368878 GA G 540 PASS SP100 Del intronic 1 9 MSH6 child 2_231368878_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 64defd76-329c-11e6-a0ea-135325c9da85 15_98840261_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 98840261 CA C 587 PASS CTD-2544M6.1 Del upstream 1 9 MSH6 child 15_98840261_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 64e37d38-3274-11e6-a5d0-4fd14a47a305 2_175938779_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 175938779 TA T 660 PASS ATF2 Del 3prime_UTR_variant 1 8 MSH6 child 2_175938779_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 64ead42a-3279-11e6-a391-f6d67d6a9fc7 6_132947745_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 132947745 AC A 660 PASS TAAR2 Del upstream 1 7 MSH6 child 6_132947745_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 64ec3fba-327c-11e6-be58-48be4dc77248 14_46697237_TACAAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 14 46697237 TACAA T 360 PASS LINC00871 Del intronic 4 2 NUDT1 child 14_46697237_TACAAT_NUDT1 4 4 4 ACAA 1 ACAA Repeat-mediated 64f19fe8-3289-11e6-b689-aeb3cc638e3d 17_16255933_CAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 17 16255933 CA C 780 PASS CENPV Del intronic 1 9 NUDT1 child 17_16255933_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated 6500fd92-3290-11e6-850b-ec0b9c6d3b88 4_85646916_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 85646916 AT A 300 PASS WDFY3 Del intronic 1 8 POLB child 4_85646916_ATA_POLB 1 1 1 T 7 T Repeat-mediated 650508b0-3290-11e6-92cf-bf2a0e01a414 6_103794263_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 103794263 GT G 300 PASS - Del - 1 9 MSH6 child 6_103794263_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 6507a8c6-3278-11e6-a391-f6d67d6a9fc7 6_56333732_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 56333732 TA T 600 PASS DST Del intronic 1 9 MSH6 child 6_56333732_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6511a498-3273-11e6-98e1-30573cfdbd24 9_20127931_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 9 20127931 AT A 660 PASS - Del - 1 9 MSH6 parent 9_20127931_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 651a1a98-3281-11e6-9f9b-29bd9b6d3b88 11_68353582_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 68353582 AT A 420 PASS PPP6R3 Del intronic 1 9 EXO1 child 11_68353582_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 651cabec-3285-11e6-99f7-076ea2c71c31 12_87568386_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 87568386 AC A 300 PASS - Del - 1 2 MSH6 child 12_87568386_ACA_MSH6 1 1 1 C 1 C Repeat-mediated 651cee48-328c-11e6-919e-92c36f39e758 2_58924285_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 58924285 AT A 420 PASS LINC01122 Del intronic 1 6 MSH6 child 2_58924285_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 6524451c-3273-11e6-81c8-19f506e9a829 2_180613797_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 180613797 CT C 480 PASS ZNF385B Del intronic 1 8 FANCC child 2_180613797_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 6524cc6c-3273-11e6-aa3b-ca60a178171f 13_87139579_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 87139579 GA G 420 PASS - Del - 1 8 MSH6 child 13_87139579_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 6536e5fa-328c-11e6-b805-77090e01a414 2_207464619_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 207464619 AT A 300 PASS ADAM23 Del intronic 1 5 MSH6 child 2_207464619_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 65375398-3276-11e6-8fe4-214938e8a824 20_49053755_TAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 20 49053755 TA T 720 PASS - Del - 1 6 POLM child 20_49053755_TAT_POLM 1 1 1 A 5 A Repeat-mediated 653a3b92-3278-11e6-a6f2-281f630e6611 8_55550178_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 8 55550178 CT C 780 PASS - Del - 1 9 CHK2 child 8_55550178_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 653bb594-3296-11e6-9baf-ebf997ba1142 14_21631963_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 14 21631963 TA T 720 PASS - Del - 1 9 CHK2 child 14_21631963_TAT_CHK2 1 1 1 A 8 A Repeat-mediated 653d1268-3273-11e6-972e-caab7d6a9fc7 15_84514387_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 15 84514387 TA T 360 PASS ADAMTSL3 Del intronic 1 9 NEIL1 child 15_84514387_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 6544f050-3255-11e6-809b-7a832aaffa45 16_79907201_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 16 79907201 CA C 360 PASS - Del - 1 9 POLM child 16_79907201_CAC_POLM 1 1 1 A 8 A Repeat-mediated 655e8350-3285-11e6-821e-69f1bbe6aa09 16_88293571_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 88293571 CT C 480 PASS LA16c-444G7.1 Del intronic 1 9 MSH6 child 16_88293571_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 655eea60-3272-11e6-9a4f-14b6dcd214c4 4_123450680_TACT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 4 123450680 TAC T 600 PASS - Del - 2 6 POLM child 4_123450680_TACT_POLM 2 2 2 AC 5 AC Repeat-mediated 655f2c82-3286-11e6-8064-0e1e987b3f23 6_17253002_CAAC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 6 17253002 CAA C 480 PASS - Del - 2 6 NEIL1 parent 6_17253002_CAAC_NEIL1 2 2 2 AA 4 A Repeat-mediated 6560f28e-328f-11e6-9432-c0e56f39e758 5_54314182_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 54314182 CA C 675 PASS ESM1 Del intronic 1 8 MSH6 child 5_54314182_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 656815f4-3321-11e6-aa01-c73272d7bc54 12_68819515_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 12 68819515 AT A 420 PASS RP11-81H14.2 Del intronic 1 9 EXO1 child 12_68819515_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 656a576a-3277-11e6-8c34-46e27872c165 5_143005567_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 143005567 AG A 300 PASS - Del - 1 2 MSH6 child 5_143005567_AGA_MSH6 1 1 1 G 1 G Repeat-mediated 656f0682-326f-11e6-acc7-e55219a91649 1_242938965_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 242938965 CA C 300 PASS - Del - 1 8 MSH6 child 1_242938965_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 6571d88e-328e-11e6-b6a6-1f1e0e01a414 4_122391736_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 122391736 CA C 300 PASS - Del - 1 8 MSH6 child 4_122391736_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 65821f08-3272-11e6-aa3b-ca60a178171f 13_22025974_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 22025974 CA C 300 PASS ZDHHC20 Del intronic 1 9 MSH6 child 13_22025974_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 658a5914-3292-11e6-abf5-7bdad8b4fa2c 17_68404003_GTG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 17 68404003 GT G 300 PASS - Del - 1 5 NUDT1 child 17_68404003_GTG_NUDT1 1 1 1 T 4 T Repeat-mediated 6590736c-3274-11e6-bb68-f04e3cfdbd24 1_180023021_TGAAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 1 180023021 TGAA T 300 PASS CEP350 Del inframe 3 1 NUDT1 child 1_180023021_TGAAT_NUDT1 3 3 1 G 0 - Microhomology-mediated 659349e6-3294-11e6-98e0-70dad8b4fa2c 2_223375811_ATA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 223375811 AT A 300 PASS SGPP2 Del intronic 1 6 NUDT1 child 2_223375811_ATA_NUDT1 1 1 1 T 5 T Repeat-mediated 65952f28-328e-11e6-bb1e-70e16f39e758 X_51732131_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 51732131 CT C 360 PASS - Del - 1 9 MSH6 child X_51732131_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 659ee890-3254-11e6-bf41-357a7872c165 10_61635732_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 61635732 CA C 420 PASS CCDC6 Del intronic 1 8 MSH6 child 10_61635732_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 65a87bc4-3292-11e6-b77d-2eef6f39e758 6_131003581_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 131003581 CA C 600 PASS - Del - 1 8 MSH6 child 6_131003581_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 65ad21f4-329e-11e6-8c2e-3f6625c9da85 22_28767132_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 28767132 GT G 300 PASS TTC28 Del intronic 1 7 MSH6 child 22_28767132_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 65b2ddfa-3272-11e6-a862-bc9becf1e924 1_8880860_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 8880860 AT A 840 PASS RERE Del upstream 1 9 MSH6 child 1_8880860_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 65b3187c-329c-11e6-a5cf-e5abcc638e3d 9_11552867_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 11552867 GA G 480 PASS - Del - 1 5 MSH6 child 9_11552867_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 65b65838-3284-11e6-8ebc-68f1bbe6aa09 18_4919823_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 4919823 GT G 600 PASS RP11-172F10.1 Del intronic 1 5 MSH6 child 18_4919823_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 65b7ff60-328b-11e6-b805-77090e01a414 2_142509430_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 142509430 AT A 360 PASS LRP1B Del intronic 1 9 MSH6 child 2_142509430_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 65c32b7a-3325-11e6-80f2-a91d98ba1142 21_21327505_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 21 21327505 AT A 360 PASS - Del - 1 7 EXO1 child 21_21327505_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 65c554a8-326d-11e6-b306-b5204b47a305 2_66874834_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 66874834 CT C 286 PASS AC007392.3 Del intronic 1 8 MSH6 child 2_66874834_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 65c65e78-3292-11e6-b77d-2eef6f39e758 6_131064397_AAAGTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 131064397 AAAGT A 360 PASS - Del - 4 1 MSH6 child 6_131064397_AAAGTA_MSH6 4 4 3 AAG 0 - Microhomology-mediated 65cecf90-328d-11e6-bd1b-5fcc977b3f23 11_132000433_CCTTTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 11 132000433 CCTTT C 660 PASS NTM Del intronic 4 2 NEIL1 child 11_132000433_CCTTTC_NEIL1 4 4 4 CTTT 1 CTTT Repeat-mediated 65d01b56-3270-11e6-acc7-e55219a91649 1_70640466_GGAATT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 70640466 G GAATT 600 PASS LRRC40 Ins intronic 4 0 MSH6 child 1_70640466_GGAATT_MSH6 4 4 - - - - Ins 65f331c4-3291-11e6-b8ba-0ad9191589db 8_131916534_CCT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 8 131916534 C CT 300 PASS ADCY8 Ins intronic 1 0 FANCC child 8_131916534_CCT_FANCC 1 1 - - - - Ins 65fc023e-3284-11e6-9daa-026ea2c71c31 14_22503079_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 22503079 AT A 480 PASS - Del - 1 8 MSH6 child 14_22503079_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 65fc427a-328a-11e6-b805-77090e01a414 2_73585842_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 73585842 CT C 600 PASS - Del - 1 7 MSH6 child 2_73585842_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 65fde8e0-3272-11e6-aa3b-ca60a178171f 13_22072231_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 22072231 GA G 420 PASS MICU2 Del intronic 1 9 MSH6 child 13_22072231_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 66022896-3273-11e6-b332-88ba7d6a9fc7 15_64822233_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 64822233 GT G 420 PASS ZNF609 Del intronic 1 9 MSH6 child 15_64822233_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 66048fe0-329c-11e6-b723-b29fcc638e3d 19_39348534_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 39348534 C CA 420 PASS - Ins - 1 8 MSH6 child 19_39348534_CCA_MSH6 1 1 - - - - Ins 66088b30-3329-11e6-8b1e-ddf006e9a829 20_22468247_GGT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 20 22468247 G GT 360 PASS - Ins - 1 6 POLE child 20_22468247_GGT_POLE 1 1 - - - - Ins 660e88ee-3290-11e6-bec1-ca1d0e01a414 X_99916162_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 99916162 G GT 360 PASS SRPX2 Ins intronic 1 7 MSH6 child X_99916162_GGT_MSH6 1 1 - - - - Ins 6612da18-329d-11e6-aca6-b39fcc638e3d 2_231689135_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 231689135 TA T 540 PASS CAB39 Del downstream 1 9 MSH6 child 2_231689135_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6614999a-3322-11e6-b981-016519a91649 2_185879566_TAAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 2 185879566 TAA T 300 PASS - Del - 2 7 CHK2 child 2_185879566_TAAT_CHK2 2 2 2 AA 5 A Repeat-mediated 661cf9fa-328c-11e6-8490-d04c1087d53a 2_2121676_ATA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 2 2121676 AT A 360 PASS MYT1L Del intronic 1 7 POLE child 2_2121676_ATA_POLE 1 1 1 T 6 T Repeat-mediated 66243168-328a-11e6-9892-02ba5d753391 5_14123733_GTG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 5 14123733 GT G 420 PASS - Del - 1 4 POLE child 5_14123733_GTG_POLE 1 1 1 T 3 T Repeat-mediated 662563c6-3294-11e6-83fc-8f4c0d016689 4_108211133_TCT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 4 108211133 TC T 300 PASS RP11-713M6.2 Del intronic 1 1 NUDT1 child 4_108211133_TCT_NUDT1 1 1 0 - 0 C None 6629d414-329a-11e6-8d0f-075325c9da85 14_51592601_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 51592601 AT A 528 PASS - Del - 1 8 MSH6 child 14_51592601_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 662eeb86-3275-11e6-8e2a-7f03630e6611 X_146269126_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA X 146269126 AT A 420 PASS MIR513C Del downstream 1 9 FANCC child X_146269126_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 662f66f4-329f-11e6-a04f-c66a25c9da85 6_12882708_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 12882708 CA C 720 PASS PHACTR1 Del intronic 1 8 MSH6 child 6_12882708_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 664167be-3290-11e6-9432-c0e56f39e758 5_128202981_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 128202981 CT C 420 PASS - Del - 1 5 MSH6 child 5_128202981_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 6643b824-3287-11e6-b3c1-495b51c54cdd 8_24013615_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 8 24013615 TA T 420 PASS - Del - 1 5 EXO1 child 8_24013615_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 66447154-328e-11e6-bec1-ca1d0e01a414 X_92327926_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 92327926 CT C 550 PASS - Del - 1 9 MSH6 child X_92327926_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 664482ce-326c-11e6-92dd-fda8977b3f23 10_5527458_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 5527458 GA G 420 PASS - Del - 1 7 MSH6 child 10_5527458_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6647e710-3259-11e6-8340-da9012ae24cf 6_56922581_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 56922581 GT G 360 PASS KIAA1586 Del downstream 1 7 MSH6 child 6_56922581_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 664e67fe-3257-11e6-885f-d1947872c165 4_87395538_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 87395538 TA T 540 PASS MAPK10 Del intronic 1 8 MSH6 child 4_87395538_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6656d036-3290-11e6-a24a-86b34430f757 5_95125255_GAG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 5 95125255 GA G 900 PASS RHOBTB3 Del intronic 1 4 POLE child 5_95125255_GAG_POLE 1 1 1 A 3 A Repeat-mediated 666fe1dc-3292-11e6-919e-92c36f39e758 2_224501241_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 224501241 T TA 360 PASS - Ins - 1 8 MSH6 child 2_224501241_TTA_MSH6 1 1 - - - - Ins 667ef028-328d-11e6-8dad-8fe0191589db 21_23314255_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 21 23314255 AT A 300 PASS AP000472.3 Del intronic 1 8 FANCC child 21_23314255_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 668276a0-329f-11e6-91d0-016425c9da85 7_112895580_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 112895580 AT A 360 PASS - Del - 1 8 MSH6 child 7_112895580_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 66863e8e-3277-11e6-83cd-a472a178171f 4_168374496_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 168374496 GT G 780 PASS - Del - 1 7 MSH6 child 4_168374496_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 66871d9a-3290-11e6-9432-c0e56f39e758 5_128296228_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 128296228 CT C 476 PASS SLC27A6 Del upstream 1 8 MSH6 child 5_128296228_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 668b30a8-3275-11e6-998e-ba48fa52e078 8_27273606_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 27273606 TA T 480 PASS PTK2B Del intronic 1 9 MSH6 child 8_27273606_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6695c770-3284-11e6-a8af-066ea2c71c31 15_21900053_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 21900053 GA G 440 PASS - Del - 1 6 MSH6 child 15_21900053_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 669aed10-328c-11e6-8eee-76090e01a414 10_70284885_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 70284885 G GT 480 PASS SLC25A16 Ins intronic 1 7 MSH6 child 10_70284885_GGT_MSH6 1 1 - - - - Ins 669e8784-3284-11e6-becf-9aabf4b7c17d 20_41747886_TATCT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 20 41747886 TATC T 480 PASS PTPRT Del intronic 3 2 FANCC child 20_41747886_TATCT_FANCC 3 3 3 ATC 1 ATC Repeat-mediated 66a0563e-3281-11e6-b263-76d64dc77248 8_23335969_AAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 23335969 A AT 600 PASS CTC-756D1.2 Ins intronic 1 6 NUDT1 child 8_23335969_AAT_NUDT1 1 1 - - - - Ins 66a1803e-328d-11e6-ae46-59cc977b3f23 12_130678538_ACA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 12 130678538 AC A 780 PASS - Del - 1 2 NEIL1 child 12_130678538_ACA_NEIL1 1 1 1 C 1 C Repeat-mediated 66a246d2-3287-11e6-a21c-b819bce6aa09 X_75657686_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 75657686 AT A 480 PASS - Del - 1 7 MSH6 child X_75657686_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 66b856ee-329f-11e6-bc2c-2a5e25c9da85 4_160473805_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 160473805 CT C 780 PASS - Del - 1 7 MSH6 child 4_160473805_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 66ce9f56-3292-11e6-9d24-ade56f39e758 7_88073301_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 88073301 G GT 309 PASS - Ins - 1 7 MSH6 child 7_88073301_GGT_MSH6 1 1 - - - - Ins 66cfe77e-3285-11e6-9a94-1d822aaffa45 6_39119288_TCT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 6 39119288 TC T 420 PASS - Del - 1 1 POLE child 6_39119288_TCT_POLE 1 1 0 - 0 C None 66d81430-328a-11e6-8eee-76090e01a414 10_74674924_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 74674924 CT C 480 PASS OIT3 Del intronic 1 9 MSH6 child 10_74674924_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 66e5c3d0-3255-11e6-89d3-d29498816cf3 2_202450350_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 202450350 CA C 480 PASS ALS2CR11 Del intronic 1 8 MSH6 child 2_202450350_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 66f6c9f0-3255-11e6-b4d0-327a7872c165 11_126170241_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 126170241 CT C 600 PASS DCPS Del upstream 1 9 MSH6 child 11_126170241_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 66f6d6d6-328a-11e6-a32d-75090e01a414 14_89306336_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 89306336 TA T 480 PASS TTC8 Del intronic 1 7 MSH6 child 14_89306336_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 66f8f608-3282-11e6-aae3-0112f221c733 X_28039670_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA X 28039670 CT C 300 PASS - Del - 1 9 FANCC child X_28039670_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 66fa56b8-3284-11e6-9a5a-824d8e4678dd 21_46504555_GTAATTCAGTAGTAGTG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 21 46504555 GTAATTCAGTAGTAGT G 360 PASS ADARB1 Del intronic 15 1 FANCC child 21_46504555_GTAATTCAGTAGTAGTG_FANCC 15 >=10 4 TAAT 0 - Microhomology-mediated 66fb59c6-3272-11e6-a5d0-4fd14a47a305 2_580570_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 580570 TA T 540 PASS AC093326.3 Del downstream 1 7 MSH6 child 2_580570_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 66fe0914-3277-11e6-8d20-7365cde16804 5_139779250_GGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 139779250 G GT 600 PASS ANKHD1 Ins upstream 1 9 MSH6 parent 5_139779250_GGT_MSH6 1 1 - - - - Ins 67022e3a-329b-11e6-9048-b49fcc638e3d 17_67629258_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 67629258 GA G 486 PASS AC003051.1 Del downstream 1 7 MSH6 child 17_67629258_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 67061bbc-3282-11e6-9a85-856e0cfb5812 7_85483981_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 7 85483981 AT A 480 PASS - Del - 1 6 POLM child 7_85483981_ATA_POLM 1 1 1 T 5 T Repeat-mediated 6708ee8e-3325-11e6-8c6b-3c0f42c4520d 4_171552061_AGA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 4 171552061 AG A 360 PASS - Del - 1 1 EXO1 child 4_171552061_AGA_EXO1 1 1 0 - 0 G None 67099b94-3326-11e6-8b24-4ab97d6a9fc7 4_131328414_TGT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 4 131328414 TG T 600 PASS - Del - 1 3 EXO1 child 4_131328414_TGT_EXO1 1 1 1 G 2 G Repeat-mediated 671bd314-3285-11e6-821e-69f1bbe6aa09 16_88931925_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 88931925 TG T 660 PASS TRAPPC2L Del downstream 1 4 MSH6 child 16_88931925_TGT_MSH6 1 1 1 G 3 G Repeat-mediated 67243906-3275-11e6-9e18-3a69671699ea 10_68595746_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 68595746 G GA 660 PASS CTNNA3 Ins intronic 1 9 MSH6 child 10_68595746_GGA_MSH6 1 1 - - - - Ins 67281bac-3324-11e6-a56f-7e1a2eaed38e 21_41187468_ATTTA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 21 41187468 ATTT A 420 PASS - Del - 3 5 EXO1 child 21_41187468_ATTTA_EXO1 3 3 2 TT 0 - Microhomology-mediated 67289264-3273-11e6-9ac5-e82e84482639 11_5510917_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 11 5510917 TA T 420 PASS OR52D1 Del 3prime_UTR_variant 1 8 EXO1 child 11_5510917_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 673329fe-3291-11e6-9ea6-6ee2977b3f23 8_123375821_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 8 123375821 AT A 720 PASS - Del - 1 9 NEIL1 child 8_123375821_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 67365476-3273-11e6-9e18-3a69671699ea 10_71017054_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 71017054 GT G 720 PASS HKDC1 Del intronic 1 8 MSH6 child 10_71017054_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 673b390a-329b-11e6-a0ea-135325c9da85 15_73577281_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 73577281 AT A 660 PASS NEO1 Del intronic 1 9 MSH6 child 15_73577281_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 67409230-329e-11e6-bc2c-2a5e25c9da85 4_96607424_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 96607424 TA T 600 PASS - Del - 1 9 MSH6 child 4_96607424_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 67421264-328e-11e6-aa75-90c36f39e758 13_101683284_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 101683284 A AT 360 PASS - Ins - 1 7 MSH6 child 13_101683284_AAT_MSH6 1 1 - - - - Ins 6743762c-3270-11e6-a539-0e5542c4520d 7_101393615_AAACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 101393615 AAAC A 360 PASS - Del - 3 3 MSH6 child 7_101393615_AAACA_MSH6 3 3 3 AAC 2 AAC Repeat-mediated 67467048-329d-11e6-94ca-0aaecc638e3d X_41057721_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 41057721 CT C 960 PASS USP9X Del intronic 1 9 MSH6 child X_41057721_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 67634f50-3285-11e6-9955-19979cdf095d 8_56420242_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 56420242 AT A 540 PASS XKR4 Del intronic 1 6 POLE child 8_56420242_ATA_POLE 1 1 1 T 5 T Repeat-mediated 67635fe6-329d-11e6-aca6-b39fcc638e3d 2_232070913_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 232070913 AT A 780 PASS ARMC9 Del 5prime_UTR_variant 1 5 MSH6 child 2_232070913_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 67655e56-326e-11e6-afba-5998cab49462 19_58771809_AAT . HAP1_POLM_21 HAP1_parental_75_WT_DNA 19 58771809 A AT 480 PASS ZNF544 Ins intronic 1 9 POLM parent 19_58771809_AAT_POLM 1 1 - - - - Ins 67659090-3270-11e6-b923-6726694da5d2 5_64103617_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 64103617 GT G 300 PASS CWC27 Del intronic 1 7 MSH6 child 5_64103617_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 676e98c0-3284-11e6-8b67-086ea2c71c31 1_7345623_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 7345623 CT C 360 PASS CAMTA1 Del intronic 1 7 MSH6 child 1_7345623_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 676f6480-3275-11e6-998e-ba48fa52e078 8_27645564_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 27645564 GA G 780 PASS ESCO2 Del intronic 1 4 MSH6 child 8_27645564_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 677cf99a-3290-11e6-b3a9-d5afe7d0bdd7 4_36178660_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 36178660 CA C 360 PASS ARAP2 Del intronic 1 9 FANCC child 4_36178660_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 6783136e-328d-11e6-8770-3e160e01a414 9_127691007_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 127691007 CA C 300 PASS GOLGA1 Del intronic 1 8 MSH6 child 9_127691007_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 67a0e42e-3289-11e6-b9eb-c78fa2c71c31 6_155783306_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 155783306 AT A 420 PASS - Del - 1 8 MSH6 child 6_155783306_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 67a5dccc-3275-11e6-8e2a-7f03630e6611 X_146787014_TAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA X 146787014 TA T 600 PASS - Del - 1 8 FANCC child X_146787014_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 67b1e512-329d-11e6-94ca-0aaecc638e3d X_41110694_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 41110694 TA T 1020 PASS - Del - 1 8 MSH6 child X_41110694_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 67b4c0f0-3272-11e6-975f-8246cab49462 16_3357692_TTCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 3357692 TTC T 420 PASS TIGD7 Del upstream 2 1 MSH6 child 16_3357692_TTCT_MSH6 2 2 1 T 0 - Microhomology-mediated 67b6e4d6-3284-11e6-90e0-6a2c36fc2f7d X_136708271_ATA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA X 136708271 AT A 300 PASS - Del - 1 9 NUDT1 child X_136708271_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 67b75270-329f-11e6-91d0-016425c9da85 7_113388350_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 113388350 CT C 413 PASS - Del - 1 4 MSH6 child 7_113388350_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 67bb8ab0-328c-11e6-8d77-b5d8191589db 7_29270770_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 7 29270770 GA G 300 PASS CHN2 Del intronic 1 5 FANCC child 7_29270770_GAG_FANCC 1 1 1 A 4 A Repeat-mediated 67c399c4-3284-11e6-8ebc-68f1bbe6aa09 18_6046135_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 6046135 TA T 600 PASS L3MBTL4 Del intronic 1 9 MSH6 child 18_6046135_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 67d0f04c-3270-11e6-8418-1c5942c4520d 3_44756053_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 44756053 TA T 300 PASS ZNF502 Del intronic 1 8 MSH6 child 3_44756053_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 67e638b8-3283-11e6-89eb-f2eacdacbbbf 4_92740702_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 92740702 CT C 600 PASS - Del - 1 9 EXO1 child 4_92740702_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 67e76978-328c-11e6-8083-5acc977b3f23 16_56772513_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 16 56772513 AT A 480 PASS NUP93 Del intronic 1 9 NEIL1 child 16_56772513_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 67ea9dfe-329c-11e6-a5cf-e5abcc638e3d 9_12080570_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 12080570 AT A 720 PASS - Del - 1 9 MSH6 child 9_12080570_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 67ef912a-328c-11e6-ac7a-a3c36f39e758 18_59075438_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 59075438 GA G 540 PASS CDH20 Del intronic 1 8 MSH6 child 18_59075438_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 67f37f1e-3288-11e6-9a8e-d2b1f6dffcf6 1_207450184_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 207450184 AT A 720 PASS RP11-6J21.2 Del intronic 1 6 NUDT1 parent 1_207450184_ATA_NUDT1 1 1 1 T 5 T Repeat-mediated 67f485f8-3328-11e6-9f5d-eba78a20d9eb 8_107484026_CTC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 107484026 CT C 540 PASS OXR1 Del intronic 1 8 EXO1 child 8_107484026_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 67f7290c-326f-11e6-a539-0e5542c4520d 7_26622594_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 26622594 CA C 540 PASS - Del - 1 8 MSH6 child 7_26622594_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 680a76c2-3271-11e6-b5b8-e0c24a47a305 X_142132954_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 142132954 AG A 300 PASS - Del - 1 6 MSH6 child X_142132954_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 680d9dfa-326e-11e6-acc7-e55219a91649 1_166652145_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 166652145 TA T 360 PASS - Del - 1 6 MSH6 child 1_166652145_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 680fdc3a-3284-11e6-9cd7-7b3e51c54cdd 18_34656992_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 18 34656992 CA C 401 PASS KIAA1328 Del intronic 1 6 EXO1 child 18_34656992_CAC_EXO1 1 1 1 A 5 A Repeat-mediated 68124e6e-3259-11e6-8cd9-139b7872c165 3_147125612_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 147125612 AT A 660 PASS ZIC1 Del upstream 1 9 MSH6 child 3_147125612_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6817dfda-3274-11e6-9162-5cdb6de4ab00 11_86042102_GTG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 11 86042102 GT G 1020 PASS C11orf73 Del intronic 1 9 CHK2 child 11_86042102_GTG_CHK2 1 1 1 T 8 T Repeat-mediated 68183846-328c-11e6-a2cb-f3ac12ae24cf 5_53143457_AAGA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 5 53143457 AAG A 420 PASS - Del - 2 7 CHK2 child 5_53143457_AAGA_CHK2 2 2 2 AG 6 AG Repeat-mediated 681e9d8c-328a-11e6-b805-77090e01a414 2_74111013_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 74111013 TA T 720 PASS - Del - 1 9 MSH6 child 2_74111013_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 681eae30-328a-11e6-a70a-47793adbad45 3_67154039_CAC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 67154039 CA C 660 PASS - Del - 1 8 NUDT1 parent 3_67154039_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 682149b4-3272-11e6-bfb2-2749c225ee11 12_6336362_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 6336362 AT A 360 PASS CD9 Del intronic 1 8 MSH6 child 12_6336362_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 68229530-3326-11e6-9eb4-dd99cf737e61 8_89039437_ACA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 89039437 AC A 540 PASS MMP16 Del downstream 1 2 EXO1 child 8_89039437_ACA_EXO1 1 1 1 C 1 C Repeat-mediated 682c40b4-328e-11e6-8e48-791e0e01a414 8_52377045_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 52377045 GA G 540 PASS PXDNL Del intronic 1 7 MSH6 child 8_52377045_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 682d3c06-3259-11e6-8cd9-139b7872c165 3_147160313_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 147160313 CT C 360 PASS - Del - 1 8 MSH6 child 3_147160313_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 68476bfe-3271-11e6-b1f2-34f6620e6611 1_46743585_TTCT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 1 46743585 TTC T 900 PASS RAD54L Del frameshift 2 3 CHK2 child 1_46743585_TTCT_CHK2 2 2 2 TC 2 TC Repeat-mediated 685d1b50-334a-11e6-8a03-0d6be84777f6 21_36062225_CCAAAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 21 36062225 CCAAA C 360 PASS CLIC6 Del intronic 4 1 FANCC child 21_36062225_CCAAAC_FANCC 4 4 2 CA 0 - Microhomology-mediated 6860ded2-329d-11e6-b549-1e5325c9da85 10_78889456_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 78889456 G GA 720 PASS KCNMA1 Ins intronic 1 7 MSH6 child 10_78889456_GGA_MSH6 1 1 - - - - Ins 68701530-3286-11e6-817a-6b15987b3f23 8_65990112_CTAC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 8 65990112 CTA C 420 PASS - Del - 2 1 NEIL1 parent 8_65990112_CTAC_NEIL1 2 2 1 T 0 - Microhomology-mediated 6872306c-3273-11e6-bea5-e783a20b69d5 13_65835558_GTG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 65835558 GT G 360 PASS - Del - 1 3 EXO1 child 13_65835558_GTG_EXO1 1 1 1 T 2 T Repeat-mediated 68786a4a-326e-11e6-b306-b5204b47a305 2_160243572_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 160243572 CT C 480 PASS BAZ2B Del intronic 1 7 MSH6 child 2_160243572_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 687e80ae-328e-11e6-bd84-429305ad5bc4 1_71128955_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 71128955 G GT 600 PASS - Ins - 1 7 MSH6 child 1_71128955_GGT_MSH6 1 1 - - - - Ins 687f0858-3347-11e6-aa8a-bd633cfdbd24 15_84328140_TGGTGCATAAGTATAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 15 84328140 TGGTGCATAAGTATA T 300 PASS ADAMTSL3 Del intronic 14 1 FANCC child 15_84328140_TGGTGCATAAGTATAT_FANCC 14 >=10 2 GG 0 - Microhomology-mediated 688026f4-328c-11e6-8490-d04c1087d53a 2_3247919_TCAAAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 2 3247919 TCAAA T 540 PASS TSSC1 Del intronic 4 1 POLE child 2_3247919_TCAAAT_POLE 4 4 2 CA 0 - Microhomology-mediated 688ff012-329f-11e6-aea7-956725c9da85 3_57402976_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 57402976 TA T 720 PASS DNAH12 Del intronic 1 9 MSH6 child 3_57402976_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 68a44ad6-3285-11e6-b093-c9c7b0dab373 2_77552377_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 77552377 CA C 480 PASS LRRTM4 Del intronic 1 8 MSH6 child 2_77552377_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 68af175e-3271-11e6-b923-6726694da5d2 5_140327255_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 140327255 TA T 420 PASS PCDHA9 Del intronic 1 6 MSH6 child 5_140327255_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 68b17f76-3285-11e6-901a-b6959cdf095d X_131558332_ATCTA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA X 131558332 ATCT A 840 PASS MBNL3 Del intronic 3 2 POLE child X_131558332_ATCTA_POLE 3 3 3 TCT 1 TCT Repeat-mediated 68b57cca-328f-11e6-9d97-efe56f39e758 4_52805078_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 52805078 CT C 673 PASS - Del - 1 7 MSH6 child 4_52805078_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 68be5b14-3272-11e6-b8ae-92c57872c165 14_20743375_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 20743375 CA C 480 PASS - Del - 1 8 MSH6 child 14_20743375_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 68bebfae-32a0-11e6-aea7-956725c9da85 3_129616295_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 129616295 AT A 660 PASS TMCC1 Del upstream 1 9 MSH6 child 3_129616295_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 68c61ea6-328d-11e6-ad89-6ebfcc638e3d X_93323669_GCG . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA X 93323669 GC G 480 PASS - Del - 1 1 NUDT1 child X_93323669_GCG_NUDT1 1 1 0 - 0 C None 68cafe80-32a1-11e6-a04f-c66a25c9da85 6_138209135_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 138209135 CT C 420 PASS TNFAIP3 Del downstream 1 8 MSH6 child 6_138209135_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 68d17afa-3272-11e6-81c8-19f506e9a829 2_110882861_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 110882861 AT A 420 PASS NPHP1 Del intronic 1 9 FANCC child 2_110882861_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 68d1d21a-3273-11e6-abaf-4642cab49462 6_126491052_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 126491052 AT A 300 PASS - Del - 1 9 MSH6 child 6_126491052_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 68d2f336-3258-11e6-acc5-308412ae24cf 5_147550586_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 147550586 CT C 480 PASS SPINK14 Del intronic 1 9 MSH6 child 5_147550586_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 68d8a7cc-328a-11e6-a284-4b89a2c71c31 4_164007349_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 164007349 A AT 600 PASS - Ins - 1 7 MSH6 child 4_164007349_AAT_MSH6 1 1 - - - - Ins 68dce212-325b-11e6-8cd9-139b7872c165 3_81557691_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 81557691 C CT 540 PASS GBE1 Ins intronic 1 6 MSH6 child 3_81557691_CCT_MSH6 1 1 - - - - Ins 68e78d7c-3290-11e6-bd26-49b0e7d0bdd7 7_23058381_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 7 23058381 TA T 360 PASS FAM126A Del upstream 1 6 FANCC child 7_23058381_TAT_FANCC 1 1 1 A 5 A Repeat-mediated 68eb6598-3284-11e6-b093-c9c7b0dab373 2_7963776_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 7963776 TA T 360 PASS - Del - 1 6 MSH6 child 2_7963776_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 68f6aaf8-3288-11e6-9317-6ba56f39e758 8_105501486_TAAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 105501486 TAA T 300 PASS LRP12 Del 3prime_UTR_variant 2 8 EXO1 child 8_105501486_TAAT_EXO1 2 2 2 AA 6 A Repeat-mediated 68fe3774-3291-11e6-9d97-efe56f39e758 4_186040705_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 186040705 CT C 540 PASS - Del - 1 9 MSH6 child 4_186040705_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6905ff3c-3272-11e6-bbeb-70bd19a91649 20_32429535_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 32429535 TC T 300 PASS CHMP4B Del intronic 1 7 MSH6 child 20_32429535_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 690766d4-328a-11e6-b805-77090e01a414 2_74239993_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 74239993 GT G 420 PASS - Del - 1 9 MSH6 child 2_74239993_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 690c3d18-329d-11e6-bc2c-2a5e25c9da85 4_34683768_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 34683768 GA G 420 PASS - Del - 1 9 MSH6 child 4_34683768_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 690f321e-3290-11e6-8d00-b1b0e7d0bdd7 5_18278947_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 18278947 CT C 300 PASS - Del - 1 9 FANCC child 5_18278947_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 69136146-328f-11e6-bec1-ca1d0e01a414 X_6697808_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 6697808 C CA 360 PASS - Ins - 1 7 MSH6 child X_6697808_CCA_MSH6 1 1 - - - - Ins 6918e46a-325b-11e6-8b28-55ad7872c165 20_54799604_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 54799604 CT C 480 PASS - Del - 1 7 MSH6 child 20_54799604_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 69206516-3277-11e6-bc24-bc6e3cfdbd24 6_85604571_CAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 85604571 CA C 300 PASS - Del - 1 7 MSH6 parent 6_85604571_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 692604c0-3273-11e6-a862-bc9becf1e924 1_62257761_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 62257761 AT A 1080 PASS INADL Del intronic 1 8 MSH6 child 1_62257761_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6929c016-3286-11e6-a21c-b819bce6aa09 X_22483716_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 22483716 CT C 360 PASS RP11-40F8.2 Del intronic 1 4 MSH6 child X_22483716_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 692da7e8-3345-11e6-ab14-b68f38e8a824 17_2520366_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 17 2520366 CA C 480 PASS PAFAH1B1 Del intronic 1 9 FANCC child 17_2520366_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 69339eb4-328c-11e6-bd84-429305ad5bc4 1_114561061_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 114561061 CT C 540 PASS - Del - 1 8 MSH6 child 1_114561061_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 693437ee-329f-11e6-b696-dd6225c9da85 5_151942873_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 151942873 AT A 780 PASS - Del - 1 5 MSH6 child 5_151942873_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 693590ca-32a0-11e6-a04f-c66a25c9da85 6_71412091_TTGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 71412091 TTG T 420 PASS SMAP1 Del intronic 2 1 MSH6 child 6_71412091_TTGT_MSH6 2 2 0 - 0 - None 6943567c-3284-11e6-99f7-076ea2c71c31 12_6409576_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 6409576 AT A 480 PASS - Del - 1 8 MSH6 child 12_6409576_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6948cbfc-329d-11e6-aca6-b39fcc638e3d 2_232402895_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 232402895 GT G 317 PASS - Del - 1 9 MSH6 child 2_232402895_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 695660ec-3292-11e6-ba4d-956e694da5d2 6_84273930_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 6 84273930 AT A 660 PASS SNAP91 Del intronic 1 9 POLM child 6_84273930_ATA_POLM 1 1 1 T 8 T Repeat-mediated 695fdfb4-326f-11e6-b5b8-e0c24a47a305 X_35988480_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 35988480 AT A 480 PASS CXorf22 Del intronic 1 9 MSH6 child X_35988480_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 696d75ba-3275-11e6-a71d-236235cec73b X_7423811_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 7423811 AT A 480 PASS - Del - 1 9 MSH6 child X_7423811_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 69730770-328c-11e6-b4fe-93c36f39e758 12_54638512_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 54638512 CA C 720 PASS CBX5 Del intronic 1 9 MSH6 child 12_54638512_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6973b67a-3273-11e6-9b52-2fdc6de4ab00 12_3323380_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 12 3323380 CT C 540 PASS TSPAN9 Del intronic 1 6 EXO1 child 12_3323380_CTC_EXO1 1 1 1 T 5 T Repeat-mediated 69804e34-329c-11e6-a5cf-e5abcc638e3d 9_12435617_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 12435617 CT C 540 PASS - Del - 1 8 MSH6 child 9_12435617_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 698ba8e4-3277-11e6-8c34-46e27872c165 5_144679694_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 144679694 TA T 540 PASS - Del - 1 8 MSH6 child 5_144679694_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 69916fca-3288-11e6-a284-4b89a2c71c31 4_171679877_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 171679877 AT A 780 PASS - Del - 1 7 MSH6 child 4_171679877_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 69975f94-3291-11e6-bd26-49b0e7d0bdd7 7_105469900_AAAACA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 7 105469900 AAAAC A 420 PASS ATXN7L1 Del intronic 4 3 FANCC child 7_105469900_AAAACA_FANCC 4 4 4 AAAC 2 AAAC Repeat-mediated 699f927c-328c-11e6-a0b5-40d57098ee92 3_3273969_CCTCTGGTCATAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 3 3273969 CCTCTGGTCATA C 600 PASS - Del - 11 1 NUDT1 child 3_3273969_CCTCTGGTCATAC_NUDT1 11 >=10 3 CTC 0 - Microhomology-mediated 69a0dee2-329c-11e6-aca6-b39fcc638e3d 2_172446355_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 172446355 TA T 600 PASS - Del - 1 9 MSH6 child 2_172446355_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 69ada550-3292-11e6-919e-92c36f39e758 2_225304435_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 225304435 A AT 420 PASS - Ins - 1 5 MSH6 child 2_225304435_AAT_MSH6 1 1 - - - - Ins 69b24ac4-326f-11e6-9fba-41ebd8b4fa2c 11_105744409_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 105744409 CT C 480 PASS GRIA4 Del intronic 1 7 MSH6 child 11_105744409_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 69b35af0-3273-11e6-8c8f-1cd3ed3c4f5d 9_112173942_CCCT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 9 112173942 C CCT 540 PASS PTPN3 Ins intronic 2 1 POLB child 9_112173942_CCCT_POLB 2 2 - - - - Ins 69c5bb0a-326e-11e6-b306-b5204b47a305 2_160532261_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 160532261 CT C 300 PASS AC009961.3 Del intronic 1 9 MSH6 child 2_160532261_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 69c7d14c-328c-11e6-bd84-429305ad5bc4 1_114946003_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 114946003 CT C 420 PASS TRIM33 Del intronic 1 8 MSH6 child 1_114946003_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 69c84e4e-327b-11e6-a391-f6d67d6a9fc7 6_90456559_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 90456559 C CA 540 PASS MDN1 Ins intronic 1 3 MSH6 child 6_90456559_CCA_MSH6 1 1 - - - - Ins 69c8c266-3285-11e6-b093-c9c7b0dab373 2_77980882_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 77980882 TA T 540 PASS - Del - 1 8 MSH6 child 2_77980882_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 69d1cb0a-328e-11e6-bfac-a2a9cdacbbbf 11_104708330_CTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 11 104708330 CT C 360 PASS - Del - 1 7 POLB child 11_104708330_CTC_POLB 1 1 1 T 6 T Repeat-mediated 69d5ad46-328f-11e6-9d97-efe56f39e758 4_53060825_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 53060825 AT A 420 PASS - Del - 1 9 MSH6 child 4_53060825_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 69d60566-328f-11e6-ae53-96c36f39e758 15_72664534_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 72664534 T TA 360 PASS HEXA Ins intronic 1 5 MSH6 child 15_72664534_TTA_MSH6 1 1 - - - - Ins 69d94656-3279-11e6-b554-cb0a0e01a414 16_35249875_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 16 35249875 CA C 845 PASS - Del - 1 3 FANCC parent 16_35249875_CAC_FANCC 1 1 1 A 2 A Repeat-mediated 69d988dc-328d-11e6-88c1-95c36f39e758 14_35198293_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 35198293 A AT 420 PASS - Ins - 1 8 MSH6 child 14_35198293_AAT_MSH6 1 1 - - - - Ins 69da405a-3289-11e6-bf15-aeb06f39e758 6_74167821_TCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 74167821 TC T 300 PASS MTO1 Del upstream 1 3 EXO1 child 6_74167821_TCT_EXO1 1 1 1 C 2 C Repeat-mediated 69dec7a4-329a-11e6-b549-1e5325c9da85 10_31256933_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 31256933 GA G 660 PASS ZNF438 Del intronic 1 7 MSH6 child 10_31256933_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 69eb1f60-3289-11e6-a80b-87090e01a414 11_9853128_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 9853128 AT A 600 PASS SBF2 Del intronic 1 8 MSH6 child 11_9853128_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 69eed854-329c-11e6-a0ea-135325c9da85 15_100028270_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 100028270 CA C 360 PASS MEF2A Del intronic 1 9 MSH6 child 15_100028270_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6a02f430-3286-11e6-a21c-b819bce6aa09 X_23095966_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 23095966 CT C 364 PASS RP11-40F8.2 Del intronic 1 7 MSH6 child X_23095966_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 6a078006-3284-11e6-a1ac-fd6da2c71c31 13_24579678_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 24579678 GA G 360 PASS SPATA13 Del intronic 1 5 MSH6 child 13_24579678_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 6a078618-3271-11e6-8fc7-e8702aaffa45 9_112172516_CAGTC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 9 112172516 CAGT C 480 PASS PTPN3 Del inframe 3 2 POLM child 9_112172516_CAGTC_POLM 3 3 3 AGT 1 AGT Repeat-mediated 6a084004-3284-11e6-b996-7c3e51c54cdd 14_47842304_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 14 47842304 GA G 540 PASS MDGA2 Del intronic 1 2 EXO1 child 14_47842304_GAG_EXO1 1 1 1 A 1 A Repeat-mediated 6a0c480c-3284-11e6-be43-0a6ea2c71c31 10_6297441_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 6297441 GT G 720 PASS - Del - 1 6 MSH6 child 10_6297441_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 6a0fb750-3287-11e6-a284-4b89a2c71c31 4_78932770_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 78932770 CT C 300 PASS - Del - 1 9 MSH6 child 4_78932770_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6a14136a-3276-11e6-9e25-e58e2aaffa45 4_91845621_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 91845621 TA T 540 PASS CCSER1 Del intronic 1 6 EXO1 child 4_91845621_TAT_EXO1 1 1 1 A 5 A Repeat-mediated 6a1f5bb2-329e-11e6-91d0-016425c9da85 7_57370755_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 57370755 GA G 480 PASS - Del - 1 9 MSH6 child 7_57370755_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 6a258892-3290-11e6-9401-04ed6f39e758 3_30168039_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 30168039 AT A 540 PASS - Del - 1 9 MSH6 child 3_30168039_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6a264480-3290-11e6-9432-c0e56f39e758 5_129597777_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 129597777 AT A 600 PASS - Del - 1 9 MSH6 child 5_129597777_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6a2a8b26-3290-11e6-8612-7b73fc77b11e 5_105871067_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 5 105871067 AT A 480 PASS - Del - 1 9 POLE child 5_105871067_ATA_POLE 1 1 1 T 8 T Repeat-mediated 6a34c666-327e-11e6-b4af-d90d7e6a9fc7 9_17033095_CTC . HAP1_POLB_35 HAP1_parental_75_WT_DNA 9 17033095 CT C 360 PASS - Del - 1 9 POLB parent 9_17033095_CTC_POLB 1 1 1 T 8 T Repeat-mediated 6a3c9a0e-328c-11e6-b43c-7ec36f39e758 16_52947638_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 52947638 GA G 660 PASS - Del - 1 9 MSH6 child 16_52947638_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 6a3d46de-3287-11e6-93b7-1d921da8ec0e 22_24513781_TTCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 22 24513781 TTC T 300 PASS CABIN1 Del intronic 2 1 EXO1 child 22_24513781_TTCT_EXO1 2 2 0 - 0 - None 6a3ddb56-328e-11e6-aa75-90c36f39e758 13_102548178_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 102548178 A AT 540 PASS FGF14 Ins intronic 1 7 MSH6 child 13_102548178_AAT_MSH6 1 1 - - - - Ins 6a47154a-328e-11e6-aa75-90c36f39e758 13_102552698_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 102552698 C CA 360 PASS FGF14 Ins intronic 1 6 MSH6 child 13_102552698_CCA_MSH6 1 1 - - - - Ins 6a47e15c-325a-11e6-8340-da9012ae24cf 6_135270800_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 135270800 CA C 780 PASS ALDH8A1 Del intronic 1 9 MSH6 child 6_135270800_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6a4c2644-326f-11e6-9309-bdc34a47a305 8_16517830_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 16517830 TA T 660 PASS RP11-13N12.2 Del intronic 1 8 MSH6 child 8_16517830_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6a596a18-327c-11e6-8723-889be7d0bdd7 2_31884548_CAC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 31884548 CA C 660 PASS - Del - 1 3 NUDT1 child 2_31884548_CAC_NUDT1 1 1 1 A 2 A Repeat-mediated 6a707194-328c-11e6-b8e6-91c36f39e758 11_60340745_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 60340745 TA T 420 PASS - Del - 1 8 MSH6 child 11_60340745_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6a77bda2-3325-11e6-b5f3-2a299a696edf 5_140194623_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 5 140194623 AT A 480 PASS PCDHA1 Del intronic 1 7 CHK2 child 5_140194623_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 6a7ac4b4-328c-11e6-b910-5ccc977b3f23 17_55889939_TGT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 17 55889939 TG T 300 PASS RP11-60A24.3 Del intronic 1 1 NEIL1 child 17_55889939_TGT_NEIL1 1 1 0 - 0 G None 6a980ff2-328b-11e6-a80b-87090e01a414 11_133697348_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 133697348 AT A 360 PASS - Del - 1 8 MSH6 child 11_133697348_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6a9dba66-3271-11e6-9260-549ffa52e078 11_74267154_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 11 74267154 AT A 660 PASS - Del - 1 7 POLB child 11_74267154_ATA_POLB 1 1 1 T 6 T Repeat-mediated 6aa76dc2-328f-11e6-ad16-6b56f0f7a29c 10_102146316_CCTGC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 10 102146316 CCTG C 540 PASS - Del - 3 1 NEIL1 child 10_102146316_CCTGC_NEIL1 3 3 0 - 0 - None 6aab5fd6-328f-11e6-92cf-bf2a0e01a414 6_36064343_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 36064343 AT A 300 PASS MAPK14 Del intronic 1 6 MSH6 child 6_36064343_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 6aadd294-3257-11e6-a7ac-209a7872c165 22_19000466_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 19000466 AT A 300 PASS DGCR9 Del upstream 1 8 MSH6 child 22_19000466_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6ab687aa-328d-11e6-ac7a-a3c36f39e758 18_44284773_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 44284773 C CT 480 PASS ST8SIA5 Ins intronic 1 1 MSH6 child 18_44284773_CCT_MSH6 1 1 - - - - Ins 6ab908ca-328a-11e6-9c89-8d090e01a414 1_59795962_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 59795962 TA T 360 PASS FGGY Del intronic 1 8 MSH6 child 1_59795962_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6ac4ad44-3292-11e6-baa6-1a7219a91649 X_136534166_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA X 136534166 AT A 360 PASS - Del - 1 5 NEIL1 child X_136534166_ATA_NEIL1 1 1 1 T 4 T Repeat-mediated 6ac82416-3273-11e6-975f-8246cab49462 16_60450820_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 60450820 GT G 480 PASS RP11-354I13.2 Del intronic 1 7 MSH6 child 16_60450820_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 6adca546-328a-11e6-a70a-47793adbad45 3_68674824_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 68674824 AT A 480 PASS - Del - 1 8 NUDT1 parent 3_68674824_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated 6ae65254-328e-11e6-a83a-f948aa5f95ce 1_197795056_GTG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 1 197795056 GT G 660 PASS - Del - 1 2 POLM child 1_197795056_GTG_POLM 1 1 1 T 1 T Repeat-mediated 6ae89418-329f-11e6-b696-dd6225c9da85 5_152376045_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 152376045 CT C 660 PASS AC091969.1 Del intronic 1 6 MSH6 child 5_152376045_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 6ae93f5e-3271-11e6-a812-e11198ba1142 9_75064910_TACT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 75064910 TAC T 480 PASS - Del - 2 7 EXO1 parent 9_75064910_TACT_EXO1 2 2 2 AC 6 AC Repeat-mediated 6aef671c-3271-11e6-8418-1c5942c4520d 3_137956574_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 137956574 GT G 480 PASS ARMC8 Del intronic 1 6 MSH6 child 3_137956574_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 6af0cee8-3273-11e6-86e1-8d021ea8ec0e X_11503733_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA X 11503733 AT A 900 PASS ARHGAP6 Del intronic 1 6 POLB child X_11503733_ATA_POLB 1 1 1 T 5 T Repeat-mediated 6af10b4a-329d-11e6-aca6-b39fcc638e3d 2_232611511_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 232611511 GA G 600 PASS PDE6D Del intronic 1 7 MSH6 child 2_232611511_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6af7eaa2-328c-11e6-a2c6-303e046f68b1 16_3355554_GCTCG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 16 3355554 GCTC G 420 PASS TIGD7 Del 5prime_UTR_variant 3 2 POLE child 16_3355554_GCTCG_POLE 3 3 3 CTC 1 CTC Repeat-mediated 6af8ea88-328c-11e6-aa75-90c36f39e758 13_75088130_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 75088130 GA G 600 PASS - Del - 1 7 MSH6 child 13_75088130_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6aff9efe-3256-11e6-9d15-298312ae24cf X_16059594_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 16059594 GA G 360 PASS - Del - 1 9 MSH6 child X_16059594_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 6affd466-3272-11e6-8418-1c5942c4520d 3_24243160_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 24243160 G GA 660 PASS THRB Ins intronic 1 2 MSH6 child 3_24243160_GGA_MSH6 1 1 - - - - Ins 6b0772b6-3321-11e6-9ab5-b30c2eaed38e 10_68810205_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 10 68810205 GA G 480 PASS CTNNA3 Del intronic 1 9 EXO1 child 10_68810205_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 6b09a77a-3272-11e6-a862-bc9becf1e924 1_9614714_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 9614714 CT C 480 PASS SLC25A33 Del intronic 1 9 MSH6 child 1_9614714_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6b0d5f66-328e-11e6-92c7-35ab4430f757 15_92189412_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 15 92189412 CT C 420 PASS RP11-692C24.2 Del intronic 1 9 POLE child 15_92189412_CTC_POLE 1 1 1 T 8 T Repeat-mediated 6b1015ea-328d-11e6-b6a6-1f1e0e01a414 4_57717799_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 57717799 AC A 360 PASS - Del - 1 2 MSH6 child 4_57717799_ACA_MSH6 1 1 1 C 1 C Repeat-mediated 6b108faa-328f-11e6-9d97-efe56f39e758 4_53571756_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 53571756 GA G 600 PASS - Del - 1 7 MSH6 child 4_53571756_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6b16e648-3285-11e6-b093-c9c7b0dab373 2_78395815_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 78395815 AT A 360 PASS - Del - 1 4 MSH6 child 2_78395815_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 6b17c19a-3284-11e6-9f05-70ef1da8ec0e 10_63334341_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 63334341 GA G 600 PASS - Del - 1 9 EXO1 child 10_63334341_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 6b1d44f4-3256-11e6-a304-347a7872c165 1_200585093_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 200585093 TG T 600 PASS KIF14 Del intronic 1 7 MSH6 child 1_200585093_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 6b253698-3272-11e6-b337-78fbd8b4fa2c 2_139249410_GTG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 139249410 GT G 420 PASS AC097721.2 Del intronic 1 9 POLB child 2_139249410_GTG_POLB 1 1 1 T 8 T Repeat-mediated 6b25be7e-3286-11e6-8b67-086ea2c71c31 1_180457375_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 180457375 CA C 300 PASS ACBD6 Del intronic 1 9 MSH6 child 1_180457375_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6b276e14-328f-11e6-bfac-a2a9cdacbbbf 11_67228011_CCAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 11 67228011 C CAT 360 PASS CABP4 Ins downstream 2 0 POLB child 11_67228011_CCAT_POLB 2 2 - - - - Ins 6b31f8fe-3279-11e6-b81c-d33a1daa6045 8_127240525_ACTA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 8 127240525 ACT A 540 PASS - Del - 2 2 NEIL1 child 8_127240525_ACTA_NEIL1 2 2 2 CT 1 CT Repeat-mediated 6b36324e-334a-11e6-8a03-0d6be84777f6 21_36943252_GTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 21 36943252 GT G 300 PASS RUNX1 Del intronic 1 5 FANCC child 21_36943252_GTG_FANCC 1 1 1 T 4 T Repeat-mediated 6b45b174-3287-11e6-a32f-5b79a178171f 11_118141768_TACT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 11 118141768 TAC T 420 PASS - Del - 2 1 FANCC child 11_118141768_TACT_FANCC 2 2 1 A 0 - Microhomology-mediated 6b46bb76-3324-11e6-92c8-fd9c38e8a824 22_46275551_CAC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 22 46275551 CA C 300 PASS WI2-85898F10.1 Del intronic 1 6 POLE child 22_46275551_CAC_POLE 1 1 1 A 5 A Repeat-mediated 6b47de18-3282-11e6-be6a-5ebd2daed38e 9_32130736_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 9 32130736 AT A 660 PASS - Del - 1 2 POLB child 9_32130736_ATA_POLB 1 1 1 T 1 T Repeat-mediated 6b4939b8-3271-11e6-b439-e34b3cfdbd24 2_27518183_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 27518183 AT A 420 PASS TRIM54 Del intronic 1 8 MSH6 parent 2_27518183_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6b5ec3e2-3324-11e6-9cf9-a1b77d6a9fc7 21_25462296_CAC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 21 25462296 CA C 780 PASS - Del - 1 7 CHK2 parent 21_25462296_CAC_CHK2 1 1 1 A 6 A Repeat-mediated 6b67c206-3286-11e6-b093-c9c7b0dab373 2_167334837_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 167334837 GA G 360 PASS SCN7A Del intronic 1 9 MSH6 child 2_167334837_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 6b6944c0-328e-11e6-bb1e-70e16f39e758 X_53909299_GACG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 53909299 GAC G 480 PASS - Del - 2 8 MSH6 child X_53909299_GACG_MSH6 2 2 2 AC 7 AC Repeat-mediated 6b70854a-328a-11e6-9c1f-afbe38e8a824 8_27079452_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 8 27079452 CT C 480 PASS - Del - 1 8 NUDT1 parent 8_27079452_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 6b768c3a-328d-11e6-bfa2-581f0e01a414 7_45660674_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 45660674 CT C 360 PASS ADCY1 Del intronic 1 9 MSH6 child 7_45660674_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6b897b6e-3324-11e6-8c6b-3c0f42c4520d 4_93339892_AAGGACATTA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 4 93339892 AAGGACATT A 480 PASS GRID2 Del intronic 8 1 EXO1 child 4_93339892_AAGGACATTA_EXO1 8 8 3 AGG 0 - Microhomology-mediated 6b8cfeb2-3291-11e6-90b7-60a39b6d3b88 12_33016249_GGGGAAAGGTAACTTG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 12 33016249 GGGGAAAGGTAACTT G 300 PASS PKP2 Del intronic 14 1 NUDT1 child 12_33016249_GGGGAAAGGTAACTTG_NUDT1 14 >=10 3 GGG 0 - Microhomology-mediated 6b8e6264-329d-11e6-91d0-016425c9da85 7_651175_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 651175 TC T 660 PASS PRKAR1B Del intronic 1 5 MSH6 child 7_651175_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 6b989ac8-32a1-11e6-b696-dd6225c9da85 5_101280400_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 101280400 C CT 420 PASS - Ins - 1 6 MSH6 child 5_101280400_CCT_MSH6 1 1 - - - - Ins 6b9a62c0-3258-11e6-9d15-298312ae24cf X_129852440_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 129852440 CA C 420 PASS ENOX2 Del intronic 1 6 MSH6 child X_129852440_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 6b9f9aa2-328e-11e6-9230-fb250e01a414 3_35083072_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 35083072 CT C 360 PASS - Del - 1 9 MSH6 child 3_35083072_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6ba001f4-3275-11e6-a862-bc9becf1e924 1_204280699_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 204280699 CA C 780 PASS PLEKHA6 Del intronic 1 9 MSH6 child 1_204280699_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6ba17224-327e-11e6-8723-889be7d0bdd7 2_231361272_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 231361272 TA T 360 PASS SP100 Del intronic 1 9 NUDT1 child 2_231361272_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 6ba37a60-3274-11e6-af88-fed9cde16804 3_162859332_TGT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 3 162859332 TG T 480 PASS RP11-10O22.1 Del intronic 1 3 NEIL1 child 3_162859332_TGT_NEIL1 1 1 1 G 2 G Repeat-mediated 6bb20060-328f-11e6-8f31-bfe16f39e758 9_121876400_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 121876400 GA G 540 PASS - Del - 1 7 MSH6 child 9_121876400_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6bb52bb8-329a-11e6-b74d-b59fcc638e3d 18_38706590_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 38706590 TA T 540 PASS - Del - 1 7 MSH6 child 18_38706590_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 6bc56986-3288-11e6-a5b3-3f1ebce6aa09 7_20975929_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 20975929 T TA 480 PASS LINC01162 Ins intronic 1 7 MSH6 child 7_20975929_TTA_MSH6 1 1 - - - - Ins 6bc6de78-328e-11e6-9230-fb250e01a414 3_35201004_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 35201004 GA G 300 PASS - Del - 1 8 MSH6 child 3_35201004_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 6bc76e16-326f-11e6-b72f-e311987b3f23 19_33320232_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 19 33320232 CT C 420 PASS SLC7A9 Del downstream 1 6 NEIL1 child 19_33320232_CTC_NEIL1 1 1 1 T 5 T Repeat-mediated 6bd0575a-3270-11e6-815d-97ef65a58581 12_102983362_AGA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 12 102983362 AG A 540 PASS - Del - 1 2 NUDT1 child 12_102983362_AGA_NUDT1 1 1 1 G 1 G Repeat-mediated 6bd4d1e0-3275-11e6-83cd-a472a178171f 4_23574931_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 23574931 TA T 540 PASS - Del - 1 4 MSH6 child 4_23574931_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 6bd93738-3272-11e6-9e18-3a69671699ea 10_6849081_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 6849081 GT G 404 PASS LINC00707 Del intronic 1 8 MSH6 child 10_6849081_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 6be7ba2c-326f-11e6-b111-adcb79852e0e 15_37176292_ATCA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 15 37176292 ATC A 360 PASS RP11-122D10.1 Del intronic 2 7 POLB child 15_37176292_ATCA_POLB 2 2 2 TC 6 TC Repeat-mediated 6bf16040-3274-11e6-82d8-a30207e9a829 5_73398988_CAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 5 73398988 CA C 300 PASS CTD-2292M14.1 Del nc_variant 1 7 POLB child 5_73398988_CAC_POLB 1 1 1 A 6 A Repeat-mediated 6bf862b2-3276-11e6-acb5-bbf1bbe6aa09 7_142840473_AAACA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 7 142840473 AAAC A 420 PASS PIP Del downstream 3 5 POLB child 7_142840473_AAACA_POLB 3 3 3 AAC 4 AAC Repeat-mediated 6bf91f26-329a-11e6-8d0f-075325c9da85 14_52881887_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 52881887 AT A 480 PASS - Del - 1 8 MSH6 child 14_52881887_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6bfafb12-3276-11e6-81c8-19f506e9a829 2_133834894_TTA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 133834894 T TA 660 PASS NCKAP5 Ins intronic 1 4 FANCC child 2_133834894_TTA_FANCC 1 1 - - - - Ins 6c0097f6-3290-11e6-9401-04ed6f39e758 3_30684206_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 30684206 CT C 360 PASS TGFBR2 Del intronic 1 9 MSH6 child 3_30684206_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6c1019b6-328f-11e6-9432-c0e56f39e758 5_55489678_CTAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 55489678 CTA C 360 PASS ANKRD55 Del intronic 2 5 MSH6 child 5_55489678_CTAC_MSH6 2 2 2 TA 4 TA Repeat-mediated 6c10ba90-3273-11e6-8f33-a6d9cde16804 11_94584567_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 94584567 CT C 600 PASS AMOTL1 Del intronic 1 8 MSH6 child 11_94584567_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 6c12cdc6-3291-11e6-92cf-bf2a0e01a414 6_165454929_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 165454929 CT C 600 PASS - Del - 1 5 MSH6 child 6_165454929_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 6c19aef4-328a-11e6-8eee-76090e01a414 10_75243591_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 75243591 AT A 480 PASS PPP3CB Del intronic 1 9 MSH6 child 10_75243591_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6c202062-326d-11e6-adc2-b7204b47a305 18_67915079_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 67915079 GA G 300 PASS - Del - 1 8 MSH6 child 18_67915079_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 6c241c34-3291-11e6-9070-b1a39b6d3b88 6_25069248_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 6 25069248 AT A 300 PASS - Del - 1 9 POLB child 6_25069248_ATA_POLB 1 1 1 T 8 T Repeat-mediated 6c288a0e-3254-11e6-9f9d-2c7a7872c165 12_57746728_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 57746728 GA G 720 PASS R3HDM2 Del intronic 1 8 MSH6 child 12_57746728_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 6c30ef24-3271-11e6-a812-e11198ba1142 9_75451219_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 75451219 TA T 360 PASS TMC1 Del 3prime_UTR_variant 1 8 EXO1 parent 9_75451219_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 6c57616e-3284-11e6-a0a8-096ea2c71c31 11_7825507_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 7825507 CA C 420 PASS RP11-35J10.5 Del intronic 1 8 MSH6 child 11_7825507_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 6c649f96-3289-11e6-a7cf-80090e01a414 15_23666712_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 23666712 CT C 420 PASS - Del - 1 8 MSH6 child 15_23666712_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 6c64d6ca-328c-11e6-a6be-80b6d7db33ec 1_5402817_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 1 5402817 AT A 420 PASS - Del - 1 7 POLE child 1_5402817_ATA_POLE 1 1 1 T 6 T Repeat-mediated 6c680de8-3284-11e6-becf-9aabf4b7c17d 20_44659861_GTG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 20 44659861 GT G 480 PASS SLC12A5 Del intronic 1 2 FANCC child 20_44659861_GTG_FANCC 1 1 1 T 1 T Repeat-mediated 6c70efb4-3273-11e6-9e18-3a69671699ea 10_72043099_GTCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 72043099 GTC G 300 PASS NPFFR1 Del intronic 2 9 MSH6 child 10_72043099_GTCG_MSH6 2 2 2 TC 8 TC Repeat-mediated 6c722c3a-326e-11e6-9793-9a8fb0dab373 13_43322355_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 43322355 A AT 540 PASS - Ins - 1 8 MSH6 child 13_43322355_AAT_MSH6 1 1 - - - - Ins 6c73ad3e-3297-11e6-8932-5889e84777f6 20_43006874_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 20 43006874 AT A 300 PASS HNF4A Del intronic 1 6 CHK2 child 20_43006874_ATA_CHK2 1 1 1 T 5 T Repeat-mediated 6c880268-3277-11e6-a391-f6d67d6a9fc7 6_1335362_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 1335362 AT A 480 PASS - Del - 1 9 MSH6 child 6_1335362_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6c8975f8-3277-11e6-92d2-c259c225ee11 3_77402972_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 77402972 AG A 720 PASS ROBO2 Del intronic 1 1 MSH6 child 3_77402972_AGA_MSH6 1 1 0 - 0 G None 6c9039c8-3273-11e6-9e18-3a69671699ea 10_72094948_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 72094948 GA G 780 PASS LRRC20 Del intronic 1 5 MSH6 child 10_72094948_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 6c9040a8-329b-11e6-8069-175325c9da85 12_94235773_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 94235773 TA T 1080 PASS CRADD Del intronic 1 9 MSH6 child 12_94235773_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6c92f656-3276-11e6-92d2-c259c225ee11 3_6952864_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 6952864 CT C 420 PASS GRM7 Del intronic 1 8 MSH6 child 3_6952864_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 6c9e7e3a-3286-11e6-b8a8-aac02daed38e 8_111324295_AAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 8 111324295 A AT 360 PASS - Ins - 1 1 POLB child 8_111324295_AAT_POLB 1 1 - - - - Ins 6c9e98de-3281-11e6-a5e9-0107694da5d2 7_81776409_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 81776409 CA C 360 PASS CACNA2D1 Del intronic 1 9 NEIL1 child 7_81776409_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 6ca5ab0e-3274-11e6-93e1-6451e7d0bdd7 10_130127249_TAT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 10 130127249 TA T 360 PASS - Del - 1 9 POLB child 10_130127249_TAT_POLB 1 1 1 A 8 A Repeat-mediated 6cbba0aa-3286-11e6-b8a8-aac02daed38e 8_111545663_TTA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 8 111545663 T TA 840 PASS - Ins - 1 5 POLB child 8_111545663_TTA_POLB 1 1 - - - - Ins 6cc65938-3294-11e6-b14c-5e337a852e0e X_116065428_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 116065428 GA G 300 PASS - Del - 1 8 CHK2 child X_116065428_GAG_CHK2 1 1 1 A 7 A Repeat-mediated 6cc87166-328d-11e6-b4fe-93c36f39e758 12_115033776_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 115033776 TA T 420 PASS - Del - 1 5 MSH6 child 12_115033776_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 6cd4590a-328c-11e6-b805-77090e01a414 2_208917720_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 208917720 AT A 540 PASS RNA5SP116 Del downstream 1 5 MSH6 child 2_208917720_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 6ce67542-329e-11e6-b696-dd6225c9da85 5_82871694_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 82871694 GA G 480 PASS VCAN Del intronic 1 7 MSH6 child 5_82871694_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6ce707f8-3287-11e6-9766-8c8ca2c71c31 22_31903723_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 31903723 GA G 720 PASS SFI1 Del intronic 1 7 MSH6 child 22_31903723_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6cfb4a1a-3291-11e6-9401-04ed6f39e758 3_103255720_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 103255720 AT A 720 PASS - Del - 1 7 MSH6 child 3_103255720_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 6d0ca076-3291-11e6-8454-1da73adbad45 22_45507217_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 22 45507217 AT A 300 PASS - Del - 1 7 NEIL1 child 22_45507217_ATA_NEIL1 1 1 1 T 6 T Repeat-mediated 6d0f5b62-3274-11e6-8607-751ad9b4fa2c 22_38687181_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 38687181 AG A 300 PASS CSNK1E Del 3prime_UTR_variant 1 7 MSH6 child 22_38687181_AGA_MSH6 1 1 1 G 6 G Repeat-mediated 6d1085d2-328d-11e6-8a9d-4cab4430f757 19_51827312_TACT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 19 51827312 TAC T 420 PASS IGLON5 Del intronic 2 2 POLE child 19_51827312_TACT_POLE 2 2 2 AC 1 AC Repeat-mediated 6d10bbca-325a-11e6-acc5-308412ae24cf 5_117523757_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 117523757 G GT 360 PASS CTD-3179P9.1 Ins intronic 1 8 MSH6 child 5_117523757_GGT_MSH6 1 1 - - - - Ins 6d183436-3273-11e6-8bd4-92b28a20d9eb 9_12637812_GAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 9 12637812 GA G 660 PASS - Del - 1 9 NEIL1 child 9_12637812_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated 6d18b8d2-328e-11e6-bfac-a2a9cdacbbbf 11_106198015_ACA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 11 106198015 AC A 300 PASS - Del - 1 3 POLB child 11_106198015_ACA_POLB 1 1 1 C 2 C Repeat-mediated 6d26e62e-3274-11e6-b89d-b2d6b0dab373 4_140207994_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 140207994 A AT 420 PASS NDUFC1 Ins downstream 1 6 MSH6 child 4_140207994_AAT_MSH6 1 1 - - - - Ins 6d296e34-3284-11e6-aa1d-e9782aaffa45 4_135506252_GAG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 4 135506252 GA G 360 PASS - Del - 1 8 POLE child 4_135506252_GAG_POLE 1 1 1 A 7 A Repeat-mediated 6d31c6c4-329d-11e6-bc66-17b4cc638e3d 8_2818981_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 2818981 AT A 540 PASS CSMD1 Del intronic 1 8 MSH6 child 8_2818981_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6d365518-3293-11e6-b81f-4ee66f39e758 8_117659774_GGAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 117659774 G GAT 540 PASS EIF3H Ins intronic 2 3 MSH6 child 8_117659774_GGAT_MSH6 2 2 - - - - Ins 6d409298-328a-11e6-ad64-7189a178171f 5_154133003_CAAATC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 154133003 CAAAT C 480 PASS LARP1 Del intronic 4 3 FANCC child 5_154133003_CAAATC_FANCC 4 4 4 AAAT 2 AAAT Repeat-mediated 6d536daa-3285-11e6-8b67-086ea2c71c31 1_84940279_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 84940279 CT C 600 PASS RPF1 Del upstream 1 7 MSH6 child 1_84940279_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 6d631b1c-3288-11e6-b686-d35a51c54cdd 4_106215472_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 106215472 GA G 300 PASS - Del - 1 9 EXO1 child 4_106215472_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 6d6a549e-3324-11e6-85fa-8f2b51c54cdd 7_69669931_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 7 69669931 GA G 600 PASS AUTS2 Del intronic 1 9 CHK2 parent 7_69669931_GAG_CHK2 1 1 1 A 8 A Repeat-mediated 6d7564d0-3273-11e6-a5d0-4fd14a47a305 2_89371106_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 89371106 AG A 343 PASS - Del - 1 6 MSH6 child 2_89371106_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 6d7c0888-3257-11e6-971b-98a02aaffa45 5_64263548_GAG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 5 64263548 GA G 480 PASS CWC27 Del intronic 1 8 POLM child 5_64263548_GAG_POLM 1 1 1 A 7 A Repeat-mediated 6d8cf4be-3288-11e6-a284-4b89a2c71c31 4_173235649_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 173235649 TA T 660 PASS GALNTL6 Del intronic 1 8 MSH6 child 4_173235649_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6d910a02-3271-11e6-b5b8-e0c24a47a305 X_144566707_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 144566707 GA G 360 PASS - Del - 1 6 MSH6 child X_144566707_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 6d91cc82-3297-11e6-96fb-b1523adbad45 20_12546997_TGT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 20 12546997 TG T 300 PASS - Del - 1 2 NEIL1 child 20_12546997_TGT_NEIL1 1 1 1 G 1 G Repeat-mediated 6d9392aa-3324-11e6-9459-771c630e6611 4_72506438_GAG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 4 72506438 GA G 420 PASS - Del - 1 6 CHK2 child 4_72506438_GAG_CHK2 1 1 1 A 5 A Repeat-mediated 6d983c46-329e-11e6-b696-dd6225c9da85 5_82981281_TCAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 82981281 TCA T 720 PASS HAPLN1 Del intronic 2 8 MSH6 child 5_82981281_TCAT_MSH6 2 2 2 CA 7 CA Repeat-mediated 6d989f12-328d-11e6-8d77-b5d8191589db 7_98774510_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 7 98774510 CA C 480 PASS KPNA7 Del intronic 1 9 FANCC child 7_98774510_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 6d9902b6-3285-11e6-8b67-086ea2c71c31 1_85074572_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 85074572 TA T 480 PASS - Del - 1 7 MSH6 child 1_85074572_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 6d9ac58e-3289-11e6-bf15-aeb06f39e758 6_75218243_AGA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 75218243 AG A 780 PASS RP11-554D15.1 Del intronic 1 1 EXO1 child 6_75218243_AGA_EXO1 1 1 0 - 0 G None 6da65f2c-3273-11e6-88b6-40832aaffa45 1_9362141_ATTGGCCGGTGAGCACGAGCCCACTGGTTA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 9362141 ATTGGCCGGTGAGCACGAGCCCACTGGTT A 840 PASS SPSB1 Del intronic 28 1 EXO1 child 1_9362141_ATTGGCCGGTGAGCACGAGCCCACTGGTTA_EXO1 28 >=10 1 T 0 - Microhomology-mediated 6dade9dc-328b-11e6-8353-a446fd44d094 1_247566022_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 247566022 GA G 360 PASS - Del - 1 9 FANCC child 1_247566022_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 6db4fdee-3281-11e6-8500-13197e6a9fc7 1_87161038_CAC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 1 87161038 CA C 540 PASS - Del - 1 8 POLB child 1_87161038_CAC_POLB 1 1 1 A 7 A Repeat-mediated 6db88896-3291-11e6-984b-997830158702 1_29353309_ACCTTGTCTCTTA . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 1 29353309 ACCTTGTCTCTT A 300 PASS EPB41 Del intronic 11 1 NUDT1 child 1_29353309_ACCTTGTCTCTTA_NUDT1 11 >=10 0 - 0 - None 6dbcd27c-328f-11e6-8bc2-1045046f68b1 7_95342760_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 7 95342760 TA T 480 PASS - Del - 1 8 POLE child 7_95342760_TAT_POLE 1 1 1 A 7 A Repeat-mediated 6dbe17b2-3321-11e6-be22-69745e975b79 1_107802738_TAGTAAACT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 1 107802738 TAGTAAAC T 960 PASS NTNG1 Del intronic 7 1 CHK2 parent 1_107802738_TAGTAAACT_CHK2 7 7 3 AGT 0 - Microhomology-mediated 6dbf3dea-3277-11e6-a71d-236235cec73b X_114024171_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 114024171 TA T 360 PASS HTR2C Del intronic 1 9 MSH6 child X_114024171_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6dbfaed2-328c-11e6-919e-92c36f39e758 2_61475830_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 61475830 GA G 720 PASS USP34 Del intronic 1 7 MSH6 child 2_61475830_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6dc6ef12-328c-11e6-88c1-95c36f39e758 14_74134367_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 74134367 AT A 540 PASS DNAL1 Del intronic 1 9 MSH6 child 14_74134367_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6dc79be0-328e-11e6-bec1-ca1d0e01a414 X_94954901_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 94954901 AT A 540 PASS - Del - 1 6 MSH6 child X_94954901_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 6dcb53fe-328c-11e6-bec1-ca1d0e01a414 X_6754191_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 6754191 GT G 660 PASS - Del - 1 6 MSH6 child X_6754191_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 6dcd9a1a-3291-11e6-8eec-d1257a852e0e 10_127458297_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 10 127458297 AT A 300 PASS MMP21 Del intronic 1 9 CHK2 child 10_127458297_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 6dd47230-328d-11e6-8621-65d8191589db 4_103810145_CCTTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 103810145 CCTT C 660 PASS CISD2 Del 3prime_UTR_variant 3 1 FANCC child 4_103810145_CCTTC_FANCC 3 3 2 CT 0 - Microhomology-mediated 6ddbdc54-328e-11e6-bb1e-70e16f39e758 X_54569369_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 54569369 CT C 300 PASS GNL3L Del intronic 1 9 MSH6 child X_54569369_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 6dde50ca-3323-11e6-9907-b3021a1589db 5_27202822_GACAAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 5 27202822 GACAA G 960 PASS - Del - 4 1 CHK2 parent 5_27202822_GACAAG_CHK2 4 4 3 ACA 0 - Microhomology-mediated 6dde9cee-3272-11e6-9065-cc4890e2c2e6 1_91753024_AAACTA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 91753024 AAACT A 384 PASS HFM1 Del intronic 4 2 MSH6 parent 1_91753024_AAACTA_MSH6 4 4 4 AACT 1 AACT Repeat-mediated 6dea5cf4-328c-11e6-bd84-429305ad5bc4 1_117791251_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 117791251 AT A 600 PASS - Del - 1 7 MSH6 child 1_117791251_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 6df64d44-3286-11e6-bb4b-c29638e8a824 X_87644604_CCA . HAP1_POLE_34 HAP1_parental_75_WT_DNA X 87644604 C CA 420 PASS - Ins - 1 8 POLE parent X_87644604_CCA_POLE 1 1 - - - - Ins 6df65262-3286-11e6-a5b3-3f1ebce6aa09 7_842564_AAGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 842564 AAG A 360 PASS - Del - 2 7 MSH6 child 7_842564_AAGA_MSH6 2 2 2 AG 6 AG Repeat-mediated 6df7b3aa-329a-11e6-b723-b29fcc638e3d 19_23907887_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 23907887 TG T 420 PASS - Del - 1 1 MSH6 child 19_23907887_TGT_MSH6 1 1 0 - 0 G None 6dfcd3e6-3284-11e6-8ebc-68f1bbe6aa09 18_8971794_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 8971794 TC T 360 PASS - Del - 1 5 MSH6 child 18_8971794_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 6e020c2c-3283-11e6-81fd-f903987b3f23 2_158784017_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 2 158784017 GA G 360 PASS UPP2 Del intronic 1 6 NEIL1 parent 2_158784017_GAG_NEIL1 1 1 1 A 5 A Repeat-mediated 6e026ed4-3273-11e6-bfb2-2749c225ee11 12_72244358_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 72244358 AT A 600 PASS TBC1D15 Del intronic 1 8 MSH6 child 12_72244358_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6e035a80-327b-11e6-bf31-92cf1f4bbf9c 2_18865856_TTTGT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 2 18865856 TTTG T 420 PASS - Del - 3 1 POLM child 2_18865856_TTTGT_POLM 3 3 1 T 0 - Microhomology-mediated 6e067bfa-3278-11e6-a8d8-3e6075253f64 3_196686579_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 196686579 AT A 540 PASS PIGZ Del intronic 1 8 FANCC child 3_196686579_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 6e08063c-329b-11e6-9048-b49fcc638e3d 17_69560781_AATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 69560781 AAT A 540 PASS - Del - 2 5 MSH6 child 17_69560781_AATA_MSH6 2 2 2 AT 4 AT Repeat-mediated 6e11ef4a-329f-11e6-a04f-c66a25c9da85 6_14835437_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 14835437 CA C 480 PASS - Del - 1 9 MSH6 child 6_14835437_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6e144a92-3277-11e6-92d2-c259c225ee11 3_77699629_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 77699629 AT A 300 PASS ROBO2 Del downstream 1 9 MSH6 child 3_77699629_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6e157526-3280-11e6-bd52-75299ecd0b3a 11_9815927_TAAGACCAGGCCTGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGACTGCTTGAGGCCAGGAGTGCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACAGGCCTCTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCCTGAACCTGGGAAATAGAGGTTGCAGTGAGCCAAGATCGCACCAATGCACTCCAGCCTTGGAGACAGAGTGATACAGTGAGTGGGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 11 9815927 TAAGACCAGGCCTGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGACTGCTTGAGGCCAGGAGTGCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACAGGCCTCTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCCTGAACCTGGGAAATAGAGGTTGCAGTGAGCCAAGATCGCACCAATGCACTCCAGCCTTGGAGACAGAGTGATACAGTGAGTGGGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA T 300 PASS SBF2 Del intronic 325 1 POLB child 11_9815927_TAAGACCAGGCCTGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGACTGCTTGAGGCCAGGAGTGCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACAGGCCTCTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCCTGAACCTGGGAAATAGAGGTTGCAGTGAGCCAAGATCGCACCAATGCACTCCAGCCTTGGAGACAGAGTGATACAGTGAGTGGGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT_POLB 325 >=10 14 AAGACCAGGCCTGG 0 - Microhomology-mediated 6e2722d0-3325-11e6-8c6b-3c0f42c4520d 4_173640632_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 4 173640632 TA T 300 PASS GALNTL6 Del intronic 1 9 EXO1 child 4_173640632_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 6e2fa01e-3284-11e6-821e-69f1bbe6aa09 16_7788511_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 7788511 TG T 540 PASS - Del - 1 6 MSH6 child 16_7788511_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 6e343472-3283-11e6-83f8-60792aaffa45 7_25547182_GTG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 7 25547182 GT G 480 PASS - Del - 1 9 POLE child 7_25547182_GTG_POLE 1 1 1 T 8 T Repeat-mediated 6e3d04fa-3259-11e6-a39a-dc8512ae24cf 8_118825077_GCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 118825077 GC G 480 PASS EXT1 Del intronic 1 3 MSH6 child 8_118825077_GCG_MSH6 1 1 1 C 2 C Repeat-mediated 6e3e76d0-326f-11e6-a539-0e5542c4520d 7_28206639_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 28206639 CA C 480 PASS JAZF1 Del intronic 1 8 MSH6 child 7_28206639_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 6e4a49f6-3292-11e6-a366-d0257a852e0e 2_208025730_CCTAC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 2 208025730 CCTA C 360 PASS KLF7 Del intronic 3 2 CHK2 child 2_208025730_CCTAC_CHK2 3 3 3 CTA 1 CTA Repeat-mediated 6e4a4fae-329d-11e6-94ca-0aaecc638e3d X_43000410_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 43000410 GT G 480 PASS - Del - 1 7 MSH6 child X_43000410_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 6e617728-328a-11e6-b74f-549ba2c71c31 20_59735553_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 59735553 CA C 720 PASS - Del - 1 9 MSH6 child 20_59735553_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 6e70483c-326e-11e6-92dd-fda8977b3f23 10_132333199_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 132333199 AT A 420 PASS - Del - 1 9 MSH6 child 10_132333199_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6e71aada-3285-11e6-9097-d57f2aaffa45 3_145478500_CAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 3 145478500 CA C 1020 PASS - Del - 1 9 POLE child 3_145478500_CAC_POLE 1 1 1 A 8 A Repeat-mediated 6e7620f8-329c-11e6-a5cf-205325c9da85 11_22452496_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 22452496 A AT 420 PASS - Ins - 1 8 MSH6 child 11_22452496_AAT_MSH6 1 1 - - - - Ins 6e88d7e4-3291-11e6-93a2-2649d7db33ec 20_36205812_GTG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 20 36205812 GT G 360 PASS - Del - 1 1 POLE child 20_36205812_GTG_POLE 1 1 0 - 0 T None 6e8ba36e-328e-11e6-919e-92c36f39e758 2_198107313_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 198107313 TA T 480 PASS ANKRD44 Del intronic 1 7 MSH6 child 2_198107313_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 6e8c5238-3323-11e6-8ccd-5c056323ba5a 2_124033265_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 124033265 GA G 540 PASS - Del - 1 8 EXO1 child 2_124033265_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 6ea68bba-328a-11e6-84d3-e3cd191589db 15_75059022_CTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCGTCTCTACTAAAAGCACAAAATTAGCCAGACATAGTGGTGAATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCCAGGCGAAGGAGCGAGACTCCATCTGAAAAAAGAAAAGAAAAGAAAAGAGGAGGGTGGGCGCGGTGGGC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 15 75059022 CTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCGTCTCTACTAAAAGCACAAAATTAGCCAGACATAGTGGTGAATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCCAGGCGAAGGAGCGAGACTCCATCTGAAAAAAGAAAAGAAAAGAAAAGAGGAGGGTGGGCGCGGTGGG C 300 PASS - Del - 304 1 FANCC child 15_75059022_CTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCGTCTCTACTAAAAGCACAAAATTAGCCAGACATAGTGGTGAATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCCAGGCGAAGGAGCGAGACTCCATCTGAAAAAAGAAAAGAAAAGAAAAGAGGAGGGTGGGCGCGGTGGGC_FANCC 304 >=10 40 TCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG 0 - Microhomology-mediated 6ea70c7e-3286-11e6-bb60-c21d694da5d2 6_129387183_GGTATGTCTTTTTTTTTTTTT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 6 129387183 G GTATGTCTTTTTTTTTTTTT 300 PASS LAMA2 Ins intronic 19 0 NEIL1 child 6_129387183_GGTATGTCTTTTTTTTTTTTT_NEIL1 19 >=10 - - - - Ins 6ea85e80-3321-11e6-89bb-56bf70cce0de 13_74687499_AGAGA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 13 74687499 AGAG A 420 PASS KLF12 Del intronic 3 2 POLE child 13_74687499_AGAGA_POLE 3 3 3 GAG 1 GAG Repeat-mediated 6eba3b4c-3276-11e6-98dc-d270cde16804 22_49967325_AAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 22 49967325 A AG 360 PASS - Ins - 1 7 MSH6 child 22_49967325_AAG_MSH6 1 1 - - - - Ins 6ef0ed82-3324-11e6-90ba-dff479852e0e 21_26418308_GGAAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 21 26418308 GGAA G 480 PASS AP000235.2 Del intronic 3 3 POLE child 21_26418308_GGAAG_POLE 3 3 3 GAA 2 GAA Repeat-mediated 6f024454-3286-11e6-afcf-0311bce6aa09 9_78427908_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 78427908 GT G 660 PASS - Del - 1 7 MSH6 child 9_78427908_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 6f0a9c7e-3256-11e6-9d15-298312ae24cf X_16832240_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 16832240 CA C 660 PASS TXLNG Del intronic 1 5 MSH6 child X_16832240_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 6f0e35cc-327f-11e6-9a18-69cfaa716c52 4_115583612_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 4 115583612 GA G 480 PASS UGT8 Del intronic 1 5 POLB parent 4_115583612_GAG_POLB 1 1 1 A 4 A Repeat-mediated 6f102c4c-3284-11e6-888b-2d6e0d016689 18_75608404_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 18 75608404 GA G 360 PASS - Del - 1 9 EXO1 child 18_75608404_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 6f2ed57c-3273-11e6-aa3b-ca60a178171f 13_90492008_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 90492008 GA G 720 PASS - Del - 1 9 MSH6 child 13_90492008_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 6f306ca2-328c-11e6-bd84-429305ad5bc4 1_118769870_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 118769870 CA C 540 PASS - Del - 1 8 MSH6 child 1_118769870_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 6f34bf76-328e-11e6-8e48-791e0e01a414 8_54099269_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 54099269 TA T 300 PASS - Del - 1 8 MSH6 child 8_54099269_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6f3faf08-3293-11e6-ba3d-81387a852e0e 22_22032476_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 22 22032476 CT C 360 PASS PPIL2 Del intronic 1 9 CHK2 child 22_22032476_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 6f407dc8-329a-11e6-b129-195325c9da85 16_29735328_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 29735328 TA T 420 PASS - Del - 1 9 MSH6 child 16_29735328_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6f488246-326f-11e6-a777-d57d9cdf095d 10_31214322_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 10 31214322 AT A 480 PASS ZNF438 Del intronic 1 6 EXO1 parent 10_31214322_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 6f5858fe-329e-11e6-b696-dd6225c9da85 5_83479012_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 83479012 GT G 300 PASS EDIL3 Del intronic 1 9 MSH6 child 5_83479012_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 6f5912e0-3284-11e6-9daa-026ea2c71c31 14_25744400_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 25744400 AT A 360 PASS - Del - 1 9 MSH6 child 14_25744400_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6f5b5ce8-328f-11e6-bb1e-70e16f39e758 X_84285390_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 84285390 TA T 540 PASS APOOL Del intronic 1 9 MSH6 child X_84285390_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 6f5be238-328c-11e6-b4fe-93c36f39e758 12_55784273_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 55784273 AT A 720 PASS - Del - 1 7 MSH6 child 12_55784273_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 6f66ecea-3288-11e6-b9eb-c78fa2c71c31 6_50288011_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 50288011 TA T 480 PASS - Del - 1 7 MSH6 child 6_50288011_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 6f6a2abe-329b-11e6-b723-b29fcc638e3d 19_56923259_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 56923259 AT A 540 PASS ZNF583 Del intronic 1 9 MSH6 child 19_56923259_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 6f700100-3255-11e6-8fbd-68832aaffa45 12_98762814_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 12 98762814 CA C 660 PASS - Del - 1 9 POLM child 12_98762814_CAC_POLM 1 1 1 A 8 A Repeat-mediated 6f723db8-3272-11e6-a862-bc9becf1e924 1_10397077_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 10397077 GA G 600 PASS KIF1B Del intronic 1 5 MSH6 child 1_10397077_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 6f761b22-3290-11e6-9d97-efe56f39e758 4_124453727_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 124453727 TA T 600 PASS - Del - 1 5 MSH6 child 4_124453727_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 6f7a0b9c-3290-11e6-9432-c0e56f39e758 5_131717858_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 131717858 AC A 720 PASS SLC22A5 Del intronic 1 1 MSH6 child 5_131717858_ACA_MSH6 1 1 0 - 0 C None 6f82a11c-3295-11e6-94ac-06337a852e0e 4_28988797_AAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 4 28988797 A AT 420 PASS - Ins - 1 8 CHK2 child 4_28988797_AAT_CHK2 1 1 - - - - Ins 6f853fdc-3293-11e6-98e0-70dad8b4fa2c 2_161678414_CAC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 161678414 CA C 660 PASS - Del - 1 5 NUDT1 child 2_161678414_CAC_NUDT1 1 1 1 A 4 A Repeat-mediated 6f85b7b0-326f-11e6-acc7-e55219a91649 1_245854464_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 245854464 TC T 300 PASS KIF26B Del intronic 1 4 MSH6 child 1_245854464_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 6f890c44-328d-11e6-b4fe-93c36f39e758 12_115642490_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 115642490 CA C 480 PASS - Del - 1 8 MSH6 child 12_115642490_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 6f9cba42-3255-11e6-9f9d-2c7a7872c165 12_123742464_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 123742464 AT A 540 PASS C12orf65 Del 3prime_UTR_variant 1 8 MSH6 child 12_123742464_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 6f9da806-3257-11e6-a7ac-209a7872c165 22_20820089_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 20820089 GT G 660 PASS KLHL22 Del intronic 1 9 MSH6 child 22_20820089_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 6fa6325a-328e-11e6-919e-92c36f39e758 2_198327670_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 198327670 CT C 720 PASS COQ10B Del intronic 1 8 MSH6 child 2_198327670_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 6fa93168-3274-11e6-b872-fc996f39e758 8_876737_TGT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 8 876737 TG T 660 PASS - Del - 1 1 NEIL1 child 8_876737_TGT_NEIL1 1 1 0 - 0 G None 6fb08314-3279-11e6-83cd-a472a178171f 4_116551244_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 116551244 T TA 840 PASS - Ins - 1 8 MSH6 child 4_116551244_TTA_MSH6 1 1 - - - - Ins 6fb7cc4a-3257-11e6-a7ac-209a7872c165 22_20831735_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 20831735 TA T 720 PASS KLHL22 Del intronic 1 8 MSH6 child 22_20831735_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6fb94866-329f-11e6-a04f-c66a25c9da85 6_15113067_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 15113067 GA G 540 PASS - Del - 1 8 MSH6 child 6_15113067_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 6fbe4512-3256-11e6-acc5-308412ae24cf 5_4298327_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 4298327 TA T 540 PASS - Del - 1 8 MSH6 child 5_4298327_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6fbf0018-3271-11e6-8418-1c5942c4520d 3_139556717_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 139556717 GT G 660 PASS RP11-166D18.1 Del intronic 1 7 MSH6 child 3_139556717_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 6fbf80a0-329a-11e6-b723-b29fcc638e3d 19_24121391_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 24121391 GT G 300 PASS ZNF726 Del downstream 1 9 MSH6 child 19_24121391_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 6fc0306c-3273-11e6-9dfc-541498ba1142 8_110083905_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 8 110083905 GA G 600 PASS - Del - 1 8 EXO1 parent 8_110083905_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 6fc1b504-3291-11e6-887e-75dad8b4fa2c 13_40936988_CTC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 13 40936988 CT C 780 PASS - Del - 1 7 NUDT1 child 13_40936988_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 6fcb1664-3276-11e6-9e0f-7959cab49462 7_67079471_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 67079471 AT A 360 PASS - Del - 1 5 MSH6 child 7_67079471_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 6fcf90ce-3288-11e6-a284-4b89a2c71c31 4_174141652_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 174141652 TA T 520 PASS GALNT7 Del intronic 1 7 MSH6 child 4_174141652_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 6fd04d0e-329a-11e6-aca6-b39fcc638e3d 2_45283390_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 45283390 GA G 1140 PASS - Del - 1 7 MSH6 child 2_45283390_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 6fd2dfe8-328a-11e6-a80b-87090e01a414 11_71505372_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 71505372 CA C 300 PASS FAM86C1 Del intronic 1 8 MSH6 child 11_71505372_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 6fde2c98-328c-11e6-b6a6-1f1e0e01a414 4_2008612_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 2008612 TA T 840 PASS NELFA Del intronic 1 6 MSH6 child 4_2008612_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 6fee7e16-3289-11e6-821d-8c090e01a414 13_28726353_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 28726353 TA T 300 PASS PAN3 Del intronic 1 8 MSH6 child 13_28726353_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 6ff592bc-3259-11e6-acc5-308412ae24cf 5_34180096_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 34180096 C CT 333 PASS - Ins - 1 1 MSH6 child 5_34180096_CCT_MSH6 1 1 - - - - Ins 6ffa9f16-3275-11e6-bfd3-a6593dc9300a X_40561025_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA X 40561025 CA C 360 PASS MED14 Del intronic 1 8 EXO1 child X_40561025_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 70005bc0-3290-11e6-9401-04ed6f39e758 3_31967304_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 31967304 CA C 300 PASS OSBPL10 Del intronic 1 9 MSH6 child 3_31967304_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 7002ce90-3287-11e6-a21c-b819bce6aa09 X_81293347_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 81293347 TA T 300 PASS - Del - 1 6 MSH6 child X_81293347_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 700b95bc-3272-11e6-8f33-a6d9cde16804 11_8902672_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 8902672 AT A 960 PASS ST5 Del intronic 1 9 MSH6 child 11_8902672_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 700bcc94-329a-11e6-b129-195325c9da85 16_29825015_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 29825015 GC G 540 PASS PRRT2 Del frameshift 1 9 MSH6 child 16_29825015_GCG_MSH6 1 1 1 C 8 C Repeat-mediated 70118232-3296-11e6-800c-01f9d8b4fa2c 5_150316796_TAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 5 150316796 TA T 360 PASS - Del - 1 9 NUDT1 child 5_150316796_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 7019b794-3283-11e6-9ece-78393dc9300a 11_23117747_GGA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 11 23117747 G GA 720 PASS - Ins - 1 7 NEIL1 parent 11_23117747_GGA_NEIL1 1 1 - - - - Ins 70233bea-329a-11e6-b74d-b59fcc638e3d 18_39993899_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 39993899 AT A 600 PASS LINC00907 Del intronic 1 8 MSH6 child 18_39993899_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 702a52b4-3285-11e6-9e76-639d69062303 8_92110052_TAAGTAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 92110052 TAAGTA T 300 PASS LRRC69 Del upstream 5 2 FANCC child 8_92110052_TAAGTAT_FANCC 5 5 5 AAGTA 1 AAGTA Repeat-mediated 702adbc0-3259-11e6-aa0b-72f912ae24cf 8_127135136_CCT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 127135136 C CT 540 PASS - Ins - 1 3 POLB child 8_127135136_CCT_POLB 1 1 - - - - Ins 702b3840-3326-11e6-bd60-7fd335cec73b 8_125799517_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 8 125799517 CA C 360 PASS - Del - 1 9 CHK2 child 8_125799517_CAC_CHK2 1 1 1 A 8 A Repeat-mediated 702e8ac4-3284-11e6-9daa-026ea2c71c31 14_26197748_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 26197748 GT G 420 PASS - Del - 1 9 MSH6 child 14_26197748_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 703a85d6-3275-11e6-a6a8-746da178171f 4_89187540_TGATTGGGTGCAGGTGATGCTGATTGATTGGGTGCAGGTGATGCTGGCTGGGTGCAGGTGTTGCTGGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGAATGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGATTGACTGCGTGCAGGTGATGCTAGCTGATTGGGTGCAGGTGATGCTGGCTGACTGGGTGCAGGTGATGTTGGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGATTGGGTGCAGGTGATGCTGGCTGATTGGGTGCAGGTGTTAGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGACTGGATGCAAGTGATGCTGGCCT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 4 89187540 TGATTGGGTGCAGGTGATGCTGATTGATTGGGTGCAGGTGATGCTGGCTGGGTGCAGGTGTTGCTGGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGAATGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGATTGACTGCGTGCAGGTGATGCTAGCTGATTGGGTGCAGGTGATGCTGGCTGACTGGGTGCAGGTGATGTTGGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGATTGGGTGCAGGTGATGCTGGCTGATTGGGTGCAGGTGTTAGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGACTGGATGCAAGTGATGCTGGCC T 260 PASS PPM1K Del intronic 385 1 NEIL1 child 4_89187540_TGATTGGGTGCAGGTGATGCTGATTGATTGGGTGCAGGTGATGCTGGCTGGGTGCAGGTGTTGCTGGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGAATGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGATTGACTGCGTGCAGGTGATGCTAGCTGATTGGGTGCAGGTGATGCTGGCTGACTGGGTGCAGGTGATGTTGGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGATTGGGTGCAGGTGATGCTGGCTGATTGGGTGCAGGTGTTAGCTGATTGGGTGCAGGTGATGCTGATTGGGTGCAGGTGATGCTGGCTGACTGGATGCAAGTGATGCTGGCCT_NEIL1 385 >=10 21 GATTGGGTGCAGGTGATGCTG 0 - Microhomology-mediated 703d020e-3287-11e6-9bb4-ea6e3adbad45 13_72535602_CTGC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 13 72535602 CTG C 660 PASS - Del - 2 1 NUDT1 parent 13_72535602_CTGC_NUDT1 2 2 1 T 0 - Microhomology-mediated 703eb1f8-3273-11e6-975f-8246cab49462 16_62607226_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 62607226 CA C 480 PASS - Del - 1 9 MSH6 child 16_62607226_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 703fd9c8-3289-11e6-a941-5a85a178171f 9_134853755_TAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 9 134853755 TA T 840 PASS MED27 Del intronic 1 7 FANCC child 9_134853755_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 70441f88-328e-11e6-8f31-bfe16f39e758 9_36399105_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 36399105 CA C 540 PASS RNF38 Del intronic 1 5 MSH6 child 9_36399105_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 7045c2ac-328e-11e6-b6a6-1f1e0e01a414 4_124704919_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 124704919 GA G 480 PASS LINC01091 Del intronic 1 9 MSH6 child 4_124704919_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 704c2b8e-3288-11e6-a8ac-a28ea2c71c31 3_73711624_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 73711624 AT A 720 PASS - Del - 1 1 MSH6 child 3_73711624_ATA_MSH6 1 1 0 - 0 T None 705b837a-3285-11e6-9b81-af532a2d4995 3_23271636_TTTAAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 3 23271636 T TTAAG 300 PASS UBE2E2 Ins intronic 4 0 NUDT1 child 3_23271636_TTTAAG_NUDT1 4 4 - - - - Ins 705dead2-3273-11e6-a685-a844e7d0bdd7 10_55448163_AGA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 10 55448163 AG A 480 PASS - Del - 1 2 EXO1 child 10_55448163_AGA_EXO1 1 1 1 G 1 G Repeat-mediated 7068d1ea-328c-11e6-b6a6-1f1e0e01a414 4_2090843_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 2090843 GT G 300 PASS POLN Del intronic 1 8 MSH6 child 4_2090843_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 7069425e-3257-11e6-9f9d-2c7a7872c165 12_127063557_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 127063557 G GT 360 PASS - Ins - 1 1 MSH6 child 12_127063557_GGT_MSH6 1 1 - - - - Ins 7072cccc-326e-11e6-b306-b5204b47a305 2_163337092_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 163337092 GT G 300 PASS KCNH7 Del intronic 1 5 MSH6 child 2_163337092_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 707a71ac-3273-11e6-826a-adb6fa52e078 17_61147586_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 61147586 GA G 300 PASS TANC2 Del intronic 1 8 MSH6 child 17_61147586_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 708a3178-328c-11e6-b6a6-1f1e0e01a414 4_2108024_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 2108024 CA C 360 PASS POLN Del intronic 1 5 MSH6 child 4_2108024_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 708ae966-3254-11e6-bc65-c9667872c165 13_89026855_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 89026855 TA T 300 PASS - Del - 1 7 MSH6 child 13_89026855_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 708ce1e0-328a-11e6-bb2d-24a320e7b7a8 X_33077086_GTG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA X 33077086 GT G 300 PASS DMD Del intronic 1 4 POLE child X_33077086_GTG_POLE 1 1 1 T 3 T Repeat-mediated 709774f4-3297-11e6-af1c-983e8cd8cd69 11_109443353_GAG . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 11 109443353 GA G 471 PASS - Del - 1 6 CHK2 child 11_109443353_GAG_CHK2 1 1 1 A 5 A Repeat-mediated 70996692-328d-11e6-ae53-96c36f39e758 15_84722740_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 84722740 AG A 396 PASS - Del - 1 6 MSH6 child 15_84722740_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 70a00672-3289-11e6-a7cf-80090e01a414 15_24515730_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 24515730 AT A 471 PASS RP11-580I1.2 Del intronic 1 9 MSH6 child 15_24515730_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 70a163f8-326d-11e6-bc62-6d4742c4520d 16_63445059_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 63445059 GT G 480 PASS RP11-368L12.1 Del intronic 1 5 MSH6 child 16_63445059_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 70a4669e-3320-11e6-b981-016519a91649 2_23343747_GAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 2 23343747 GA G 300 PASS AC016768.1 Del intronic 1 5 CHK2 child 2_23343747_GAG_CHK2 1 1 1 A 4 A Repeat-mediated 70a56018-328e-11e6-8952-77c36f39e758 10_62185871_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 62185871 C CT 480 PASS ANK3 Ins intronic 1 2 MSH6 child 10_62185871_CCT_MSH6 1 1 - - - - Ins 70b1a34c-328d-11e6-9a04-1f6bfc77b11e 12_69842170_CTC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 12 69842170 CT C 480 PASS RP11-956E11.1 Del upstream 1 9 POLE child 12_69842170_CTC_POLE 1 1 1 T 8 T Repeat-mediated 70b385e4-3293-11e6-89b3-f12a3dc9300a 15_71851984_GGAAG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 15 71851984 GGAA G 480 PASS THSD4 Del intronic 3 3 POLB child 15_71851984_GGAAG_POLB 3 3 3 GAA 2 GAA Repeat-mediated 70b7690a-329a-11e6-b74d-b59fcc638e3d 18_40153993_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 40153993 AC A 540 PASS LINC00907 Del intronic 1 3 MSH6 child 18_40153993_ACA_MSH6 1 1 1 C 2 C Repeat-mediated 70b93ee6-328c-11e6-aac2-75bb5d753391 4_155553538_ATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 155553538 AT A 600 PASS LRAT Del intronic 1 5 POLE child 4_155553538_ATA_POLE 1 1 1 T 4 T Repeat-mediated 70bcb1e8-328c-11e6-9c89-8d090e01a414 1_188944987_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 188944987 CA C 480 PASS - Del - 1 2 MSH6 child 1_188944987_CAC_MSH6 1 1 1 A 1 A Repeat-mediated 70bf36f6-32a1-11e6-a04f-c66a25c9da85 6_139893002_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 139893002 GC G 780 PASS - Del - 1 7 MSH6 child 6_139893002_GCG_MSH6 1 1 1 C 6 C Repeat-mediated 70c1a9a0-326e-11e6-acc7-e55219a91649 1_169571859_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 169571859 AT A 480 PASS SELP Del intronic 1 9 MSH6 child 1_169571859_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 70c6e1fe-327d-11e6-b10b-a867faf1a024 1_93687973_CAC . HAP1_POLB_35 HAP1_parental_75_WT_DNA 1 93687973 CA C 720 PASS CCDC18 Del intronic 1 9 POLB parent 1_93687973_CAC_POLB 1 1 1 A 8 A Repeat-mediated 70c93478-3254-11e6-a304-347a7872c165 1_52330309_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 52330309 AT A 540 PASS NRD1 Del intronic 1 9 MSH6 child 1_52330309_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 70d0ab26-3291-11e6-802b-5da39b6d3b88 10_32458439_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 10 32458439 GA G 360 PASS RNU7-22P Del upstream 1 9 NUDT1 child 10_32458439_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated 70d3a58e-3272-11e6-b337-78fbd8b4fa2c 2_140733640_GATG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 140733640 GAT G 480 PASS - Del - 2 5 POLB child 2_140733640_GATG_POLB 2 2 2 AT 4 AT Repeat-mediated 70dc97ee-3271-11e6-b923-6726694da5d2 5_143011158_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 143011158 TA T 300 PASS - Del - 1 9 MSH6 child 5_143011158_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 70e60220-328f-11e6-bd90-978e3adbad45 12_102073989_TAAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 12 102073989 TAA T 420 PASS MYBPC1 Del intronic 2 4 NEIL1 child 12_102073989_TAAT_NEIL1 2 2 2 AA 2 A Repeat-mediated 70e79fd6-3276-11e6-ab69-1c1607e9a829 9_135789779_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 135789779 GA G 600 PASS TSC1 Del intronic 1 5 MSH6 child 9_135789779_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 70ec351a-3324-11e6-af46-df1198ba1142 7_145565316_GTG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 7 145565316 GT G 480 PASS - Del - 1 7 POLE child 7_145565316_GTG_POLE 1 1 1 T 6 T Repeat-mediated 70ecdaec-3275-11e6-a71d-236235cec73b X_9818725_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 9818725 CA C 600 PASS SHROOM2 Del intronic 1 5 MSH6 child X_9818725_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 70f93bc0-3275-11e6-98dc-d270cde16804 22_17693328_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 22 17693328 AT A 720 PASS CECR1 Del intronic 1 7 MSH6 child 22_17693328_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 70fcc938-3276-11e6-9ac6-2f1c25864c47 6_73760289_CTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 6 73760289 CT C 480 PASS KCNQ5 Del intronic 1 3 POLB child 6_73760289_CTC_POLB 1 1 1 T 2 T Repeat-mediated 71039b68-3277-11e6-a5d0-4fd14a47a305 2_181195993_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 181195993 G GA 300 PASS - Ins - 1 7 MSH6 child 2_181195993_GGA_MSH6 1 1 - - - - Ins 71076158-3272-11e6-bfb2-2749c225ee11 12_8069034_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 8069034 CA C 480 PASS SLC2A3 Del downstream 1 8 MSH6 child 12_8069034_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 710cf22a-3322-11e6-8ccd-5c056323ba5a 2_52802545_GTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 52802545 GT G 660 PASS - Del - 1 5 EXO1 child 2_52802545_GTG_EXO1 1 1 1 T 4 T Repeat-mediated 710f14ac-3326-11e6-bd60-7fd335cec73b 8_126194897_AATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 8 126194897 AAT A 360 PASS NSMCE2 Del intronic 2 2 CHK2 child 8_126194897_AATA_CHK2 2 2 2 AT 1 AT Repeat-mediated 7116e872-3285-11e6-99f7-076ea2c71c31 12_92528146_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 92528146 GA G 420 PASS C12orf79 Del intronic 1 9 MSH6 child 12_92528146_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 711820c0-328a-11e6-9c89-8d090e01a414 1_61689311_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 61689311 GT G 540 PASS NFIA Del intronic 1 7 MSH6 child 1_61689311_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7127913e-328c-11e6-b8e6-91c36f39e758 11_61955751_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 61955751 AT A 480 PASS SCGB1D1 Del upstream 1 9 MSH6 child 11_61955751_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 712bb3fe-329b-11e6-b723-b29fcc638e3d 19_57251736_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 57251736 AT A 540 PASS - Del - 1 5 MSH6 child 19_57251736_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 713410d0-328c-11e6-9c89-8d090e01a414 1_189013620_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 189013620 GA G 300 PASS - Del - 1 9 MSH6 child 1_189013620_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 71388b2a-329f-11e6-aea7-956725c9da85 3_59265127_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 59265127 TA T 300 PASS - Del - 1 3 MSH6 child 3_59265127_TAT_MSH6 1 1 1 A 2 A Repeat-mediated 7139796e-334d-11e6-84ae-66e1b0dab373 20_8540176_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 20 8540176 TA T 300 PASS PLCB1 Del intronic 1 6 FANCC child 20_8540176_TAT_FANCC 1 1 1 A 5 A Repeat-mediated 713c1f50-328c-11e6-8952-77c36f39e758 10_58803522_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 58803522 AT A 759 PASS - Del - 1 9 MSH6 child 10_58803522_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 713d7876-3289-11e6-9c2b-e85751c54cdd 9_117285616_CCT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 9 117285616 C CT 540 PASS - Ins - 1 6 EXO1 child 9_117285616_CCT_EXO1 1 1 - - - - Ins 7144cf6c-328a-11e6-821d-8c090e01a414 13_91988390_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 91988390 GT G 600 PASS - Del - 1 7 MSH6 child 13_91988390_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7149ea1a-3285-11e6-a8af-066ea2c71c31 15_71337396_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 71337396 AT A 420 PASS LRRC49 Del intronic 1 8 MSH6 child 15_71337396_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 714c8c7c-3292-11e6-b77d-2eef6f39e758 6_134579550_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 134579550 TA T 660 PASS SGK1 Del intronic 1 8 MSH6 child 6_134579550_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 715594b6-3288-11e6-b9eb-c78fa2c71c31 6_51452751_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 51452751 GT G 420 PASS - Del - 1 9 MSH6 child 6_51452751_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 71599b36-328f-11e6-8f31-bfe16f39e758 9_123438730_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 123438730 AT A 600 PASS MEGF9 Del intronic 1 9 MSH6 child 9_123438730_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 716572ca-3277-11e6-8c34-46e27872c165 5_146697647_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 146697647 CT C 600 PASS STK32A Del intronic 1 7 MSH6 child 5_146697647_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 716c482a-3290-11e6-8fa6-65cc977b3f23 15_91831873_TTTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 15 91831873 T TTC 660 PASS SV2B Ins intronic 2 7 NEIL1 child 15_91831873_TTTC_NEIL1 2 2 - - - - Ins 7173e798-328f-11e6-b6a6-1f1e0e01a414 4_184226386_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 184226386 GA G 360 PASS WWC2 Del intronic 1 9 MSH6 child 4_184226386_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 717e2d8e-328a-11e6-a7cf-80090e01a414 15_65772466_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 65772466 TA T 386 PASS DPP8 Del intronic 1 9 MSH6 child 15_65772466_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7181e33c-3291-11e6-9d24-ade56f39e758 7_19704340_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 19704340 A AT 360 PASS - Ins - 1 7 MSH6 child 7_19704340_AAT_MSH6 1 1 - - - - Ins 71885670-3284-11e6-9daa-026ea2c71c31 14_26951685_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 26951685 TA T 300 PASS NOVA1 Del intronic 1 8 MSH6 child 14_26951685_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 718ceaea-328a-11e6-b74f-549ba2c71c31 20_61186724_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 61186724 AG A 780 PASS - Del - 1 6 MSH6 child 20_61186724_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 718fc714-326d-11e6-b9f4-5d1d694da5d2 14_75435287_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 75435287 CA C 300 PASS - Del - 1 9 MSH6 child 14_75435287_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 719462e2-3277-11e6-b068-16d27d6a9fc7 6_70683958_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 6 70683958 TA T 300 PASS COL19A1 Del intronic 1 8 NEIL1 child 6_70683958_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 719e42ac-326e-11e6-acc7-e55219a91649 1_170031828_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 170031828 CT C 300 PASS KIFAP3 Del intronic 1 9 MSH6 child 1_170031828_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 719f23dc-3284-11e6-a8af-066ea2c71c31 15_22498149_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 22498149 CA C 262 PASS - Del - 1 7 MSH6 child 15_22498149_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 71a565b6-3294-11e6-8b88-ec04b51afd22 9_6808917_GATGAAAGCATAAATCTTACAG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 9 6808917 GATGAAAGCATAAATCTTACA G 360 PASS KDM4C Del intronic 20 1 NEIL1 child 9_6808917_GATGAAAGCATAAATCTTACAG_NEIL1 20 >=10 1 A 0 - Microhomology-mediated 71aa1b38-3276-11e6-bc24-bc6e3cfdbd24 6_21053190_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 21053190 AT A 300 PASS CDKAL1 Del intronic 1 9 MSH6 parent 6_21053190_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 71ba891e-328a-11e6-a7cf-80090e01a414 15_65777168_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 65777168 CT C 300 PASS DPP8 Del intronic 1 7 MSH6 child 15_65777168_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 71c26a28-3279-11e6-a6f2-281f630e6611 8_137844579_CATTTTATACATTAAAACACAGAACAAAAGTAAATTTCAGGAAGAAAATGAGACCGGCTTAC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 8 137844579 CATTTTATACATTAAAACACAGAACAAAAGTAAATTTCAGGAAGAAAATGAGACCGGCTTA C 960 PASS RP11-30J20.1 Del intronic 60 1 CHK2 child 8_137844579_CATTTTATACATTAAAACACAGAACAAAAGTAAATTTCAGGAAGAAAATGAGACCGGCTTAC_CHK2 60 >=10 1 A 0 - Microhomology-mediated 71c986ce-3273-11e6-a862-bc9becf1e924 1_63959304_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 63959304 GA G 420 PASS ITGB3BP Del intronic 1 9 MSH6 child 1_63959304_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 71ca7d80-328d-11e6-919e-92c36f39e758 2_131754944_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 131754944 AT A 480 PASS ARHGEF4 Del intronic 1 8 MSH6 child 2_131754944_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 71d06872-328c-11e6-bd84-429305ad5bc4 1_120348731_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 120348731 CT C 420 PASS REG4 Del intronic 1 9 MSH6 child 1_120348731_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 71d24d66-3289-11e6-aff5-85090e01a414 16_10636323_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 10636323 AT A 300 PASS EMP2 Del intronic 1 6 MSH6 child 16_10636323_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 71f23414-3270-11e6-a539-0e5542c4520d 7_103756087_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 103756087 CT C 540 PASS - Del - 1 7 MSH6 child 7_103756087_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 71fd7e04-328a-11e6-b74f-549ba2c71c31 20_61509887_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 61509887 CT C 420 PASS DIDO1 Del 3prime_UTR_variant 1 7 MSH6 child 20_61509887_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 72033af2-328e-11e6-919e-92c36f39e758 2_198879270_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 198879270 CT C 720 PASS PLCL1 Del intronic 1 8 MSH6 child 2_198879270_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7207c808-3291-11e6-9230-fb250e01a414 3_24243160_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 24243160 G GA 660 PASS THRB Ins intronic 1 2 MSH6 child 3_24243160_GGA_MSH6 1 1 - - - - Ins 7211dfbe-3287-11e6-a5b3-3f1ebce6aa09 7_93469439_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 93469439 CA C 960 PASS - Del - 1 9 MSH6 child 7_93469439_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 722569e4-326e-11e6-9d68-ac9acab49462 15_81858673_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 81858673 GT G 1020 PASS CTD-2034I4.1 Del intronic 1 7 MSH6 child 15_81858673_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 72283e8a-3287-11e6-a21c-b819bce6aa09 X_83371330_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 83371330 AT A 660 PASS RPS6KA6 Del intronic 1 8 MSH6 child X_83371330_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 722ea048-3289-11e6-940d-53a538e8a824 2_187720876_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 187720876 AT A 300 PASS - Del - 1 5 NUDT1 parent 2_187720876_ATA_NUDT1 1 1 1 T 4 T Repeat-mediated 723b317a-3322-11e6-ad87-aefe97ba1142 10_73930722_ACA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 10 73930722 AC A 420 PASS ASCC1 Del intronic 1 8 EXO1 child 10_73930722_ACA_EXO1 1 1 1 C 7 C Repeat-mediated 723c000c-3285-11e6-8b67-086ea2c71c31 1_86283131_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 86283131 AT A 420 PASS COL24A1 Del intronic 1 9 MSH6 child 1_86283131_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 723d348a-328b-11e6-bd95-63cc977b3f23 1_9618240_CTAAAGC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 1 9618240 CTAAAG C 1080 PASS SLC25A33 Del intronic 5 2 NEIL1 child 1_9618240_CTAAAGC_NEIL1 5 5 5 TAAAG 1 TAAAG Repeat-mediated 724e754c-3281-11e6-af60-a9f7b0dab373 10_34376883_GAG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 10 34376883 GA G 660 PASS - Del - 1 7 POLE parent 10_34376883_GAG_POLE 1 1 1 A 6 A Repeat-mediated 725afd24-3292-11e6-9d24-ade56f39e758 7_91698025_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 91698025 C CT 600 PASS AKAP9 Ins intronic 1 8 MSH6 child 7_91698025_CCT_MSH6 1 1 - - - - Ins 72647b94-3272-11e6-a5d0-4fd14a47a305 2_4878338_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 4878338 CT C 660 PASS - Del - 1 8 MSH6 child 2_4878338_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7265afb4-329a-11e6-b74d-b59fcc638e3d 18_40496254_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 40496254 TA T 480 PASS RIT2 Del intronic 1 5 MSH6 child 18_40496254_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 726a9020-328a-11e6-afaf-7f6251c54cdd 6_132646153_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 6 132646153 AT A 420 PASS MOXD1 Del intronic 1 7 EXO1 child 6_132646153_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 726d8d40-328d-11e6-919e-92c36f39e758 2_131955895_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 131955895 TA T 540 PASS PLEKHB2 Del intronic 1 5 MSH6 child 2_131955895_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 7277c194-3296-11e6-9baf-ebf997ba1142 14_24918511_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 14 24918511 AT A 412 PASS - Del - 1 4 CHK2 child 14_24918511_ATA_CHK2 1 1 1 T 3 T Repeat-mediated 728d1d42-329f-11e6-94ca-0aaecc638e3d X_122200835_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 122200835 GA G 900 PASS - Del - 1 9 MSH6 child X_122200835_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 728e93be-325b-11e6-8b28-55ad7872c165 20_57468357_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 57468357 CT C 480 PASS GNAS Del intronic 1 8 MSH6 child 20_57468357_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 729eae9e-3282-11e6-b857-6115038949d4 5_5143324_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 5 5143324 AT A 480 PASS ADAMTS16 Del intronic 1 2 POLM child 5_5143324_ATA_POLM 1 1 1 T 1 T Repeat-mediated 72a67994-3327-11e6-8030-ef8819a91649 6_138888396_CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACTCCTCCTGAGTA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 6 138888396 CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACT CCTCCTGAGTA 540 PASS NHSL1 Complex intronic 1258 0 CHK2 child 6_138888396_CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACTCCTCCTGAGTA_CHK2 1248 >=10 - - - - Complex 72c2228a-3272-11e6-b8ae-92c57872c165 14_22615183_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 22615183 AT A 600 PASS - Del - 1 8 MSH6 child 14_22615183_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 72d039da-3270-11e6-9d19-c216987b3f23 21_15860320_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 15860320 CT C 360 PASS SAMSN1 Del intronic 1 8 MSH6 child 21_15860320_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 72d512c4-3271-11e6-a812-e11198ba1142 9_77830962_CTAATC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 77830962 CTAAT C 420 PASS - Del - 4 1 EXO1 parent 9_77830962_CTAATC_EXO1 4 4 3 TAA 0 - Microhomology-mediated 72db4004-3276-11e6-ab69-1c1607e9a829 9_136265024_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 136265024 AG A 300 PASS C9orf96 Del intronic 1 8 MSH6 child 9_136265024_AGA_MSH6 1 1 1 G 7 G Repeat-mediated 72dc9eea-3285-11e6-8fa3-1d15038949d4 4_25696010_CCA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 4 25696010 C CA 360 PASS - Ins - 1 2 POLM child 4_25696010_CCA_POLM 1 1 - - - - Ins 72e23e8e-329b-11e6-b723-b29fcc638e3d 19_57525037_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 57525037 TC T 610 PASS - Del - 1 1 MSH6 child 19_57525037_TCT_MSH6 1 1 0 - 0 C None 72e5ccd0-3281-11e6-8857-3d859cdf095d 18_59791632_CAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 18 59791632 CA C 600 PASS PIGN Del intronic 1 7 POLE child 18_59791632_CAC_POLE 1 1 1 A 6 A Repeat-mediated 72fc1dc6-3292-11e6-8c3d-0ab4e7d0bdd7 3_135599930_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 135599930 CA C 300 PASS - Del - 1 7 FANCC child 3_135599930_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 72fcbd88-328a-11e6-8459-82090e01a414 12_69233089_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 69233089 TC T 300 PASS MDM2 Del frameshift 1 7 MSH6 child 12_69233089_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 7305d564-3288-11e6-a284-4b89a2c71c31 4_175278346_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 175278346 AT A 780 PASS RP11-51M24.1 Del intronic 1 9 MSH6 child 4_175278346_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7310b5a8-326d-11e6-b306-b5204b47a305 2_70848010_CTTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 70848010 CTT C 300 PASS - Del - 2 3 MSH6 child 2_70848010_CTTC_MSH6 2 2 1 T 0 - Microhomology-mediated 731a72e6-3277-11e6-92d2-c259c225ee11 3_78911458_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 78911458 GA G 300 PASS ROBO1 Del intronic 1 8 MSH6 child 3_78911458_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 731a79e0-328f-11e6-8fd1-f2ac12ae24cf X_121870617_GGC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA X 121870617 G GC 300 PASS - Ins - 1 2 CHK2 child X_121870617_GGC_CHK2 1 1 - - - - Ins 731dc024-3289-11e6-989a-645b51c54cdd 5_178335934_CTAAAACCCCTCGTGGCCTTTGGAATACCAAGTTTAGTGCTAAAGGGTGGAAGGCTGCCCTGCCGCACCGTTATCTAAGCCCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 5 178335934 CTAAAACCCCTCGTGGCCTTTGGAATACCAAGTTTAGTGCTAAAGGGTGGAAGGCTGCCCTGCCGCACCGTTATCTAAGCCCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCG C 296 PASS ZFP2 Del intronic 255 1 EXO1 child 5_178335934_CTAAAACCCCTCGTGGCCTTTGGAATACCAAGTTTAGTGCTAAAGGGTGGAAGGCTGCCCTGCCGCACCGTTATCTAAGCCCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGTAAAACCCCTCGTGGCCTGGATGGAATCCAGGGCTCAGGGCGC_EXO1 255 >=10 18 TAAAACCCCTCGTGGCCT 0 - Microhomology-mediated 731f29bc-3277-11e6-83cd-a472a178171f 4_171516496_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 171516496 TA T 300 PASS - Del - 1 4 MSH6 child 4_171516496_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 732102a2-328e-11e6-8f31-bfe16f39e758 9_36580324_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 36580324 CT C 480 PASS MELK Del intronic 1 9 MSH6 child 9_36580324_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7325a00c-32a0-11e6-bc66-17b4cc638e3d 8_106954685_TACT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 106954685 TAC T 780 PASS - Del - 2 7 MSH6 child 8_106954685_TACT_MSH6 2 2 2 AC 6 AC Repeat-mediated 732bb788-3284-11e6-8b67-086ea2c71c31 1_10014281_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 10014281 CT C 420 PASS NMNAT1 Del intronic 1 9 MSH6 child 1_10014281_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 732bf80e-326d-11e6-9d68-ac9acab49462 15_63229728_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 63229728 GT G 360 PASS - Del - 1 7 MSH6 child 15_63229728_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7334693a-3277-11e6-8c34-46e27872c165 5_147264417_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 147264417 AT A 780 PASS SCGB3A2 Del downstream 1 7 MSH6 child 5_147264417_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 73346b78-3255-11e6-b4d0-327a7872c165 11_130282119_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 130282119 CT C 540 PASS ADAMTS8 Del intronic 1 9 MSH6 child 11_130282119_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 733877fa-329a-11e6-a0ea-135325c9da85 15_47639116_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 47639116 CT C 480 PASS SEMA6D Del intronic 1 9 MSH6 child 15_47639116_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 733b6386-3275-11e6-a71d-236235cec73b X_10976813_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 10976813 TA T 600 PASS RP11-120D5.1 Del intronic 1 9 MSH6 child X_10976813_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7344b68c-3254-11e6-bc65-c9667872c165 13_89907446_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 89907446 CA C 720 PASS - Del - 1 8 MSH6 child 13_89907446_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 735247fe-3275-11e6-88b6-40832aaffa45 1_177298596_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 177298596 GT G 480 PASS - Del - 1 9 EXO1 child 1_177298596_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 7352d0d6-328c-11e6-aac2-75bb5d753391 4_156693144_TAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 156693144 TA T 540 PASS GUCY1B3 Del intronic 1 1 POLE child 4_156693144_TAT_POLE 1 1 0 - 0 A None 73579982-3254-11e6-a4a7-35f212ae24cf 14_76752807_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 76752807 TA T 480 PASS RP11-516J2.1 Del intronic 1 8 MSH6 child 14_76752807_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7364faa0-329a-11e6-b74d-b59fcc638e3d 18_40898990_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 40898990 AT A 360 PASS - Del - 1 5 MSH6 child 18_40898990_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 73661d6c-3291-11e6-919e-92c36f39e758 2_155964384_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 155964384 T TA 360 PASS - Ins - 1 6 MSH6 child 2_155964384_TTA_MSH6 1 1 - - - - Ins 736962c0-3277-11e6-a391-f6d67d6a9fc7 6_2927477_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 2927477 AT A 1200 PASS - Del - 1 8 MSH6 child 6_2927477_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 73723c40-3274-11e6-afaa-a1dd79852e0e 6_67424796_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 6 67424796 TA T 360 PASS - Del - 1 7 POLB child 6_67424796_TAT_POLB 1 1 1 A 6 A Repeat-mediated 7377bf9a-329b-11e6-9048-b49fcc638e3d 17_71002241_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 71002241 GA G 600 PASS SLC39A11 Del intronic 1 8 MSH6 child 17_71002241_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 737a7040-3274-11e6-8889-c85efc77b11e 4_37726295_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 37726295 TA T 540 PASS - Del - 1 9 MSH6 parent 4_37726295_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 737cccd8-3278-11e6-a391-f6d67d6a9fc7 6_62782785_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 62782785 CT C 518 PASS KHDRBS2 Del intronic 1 7 MSH6 child 6_62782785_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 7381c60c-32a0-11e6-aea7-956725c9da85 3_133014992_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 133014992 CT C 540 PASS TMEM108 Del intronic 1 7 MSH6 child 3_133014992_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 738b423e-3275-11e6-a71d-236235cec73b X_11307344_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 11307344 GT G 720 PASS ARHGAP6 Del intronic 1 9 MSH6 child X_11307344_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 7397a608-3277-11e6-a8d8-3e6075253f64 3_141520762_GAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 141520762 GA G 420 PASS GRK7 Del intronic 1 7 FANCC child 3_141520762_GAG_FANCC 1 1 1 A 6 A Repeat-mediated 73982ccc-329a-11e6-b74d-b59fcc638e3d 18_41009519_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 41009519 AT A 660 PASS - Del - 1 9 MSH6 child 18_41009519_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 73a8f9ce-3292-11e6-b77d-2eef6f39e758 6_135342045_GTTGCAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 135342045 GTTGCA G 480 PASS HBS1L Del intronic 5 1 MSH6 child 6_135342045_GTTGCAG_MSH6 5 5 0 - 0 - None 73b21ea6-3296-11e6-b14c-5e337a852e0e X_133837750_GGT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 133837750 G GT 300 PASS - Ins - 1 5 CHK2 child X_133837750_GGT_CHK2 1 1 - - - - Ins 73b898a4-3272-11e6-b4ee-9405147bb207 10_117340760_TCT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 10 117340760 TC T 600 PASS ATRNL1 Del intronic 1 1 MSH6 parent 10_117340760_TCT_MSH6 1 1 0 - 0 C None 73bd89fe-329f-11e6-b696-dd6225c9da85 5_154576355_TACT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 154576355 TAC T 300 PASS - Del - 2 8 MSH6 child 5_154576355_TACT_MSH6 2 2 2 AC 7 AC Repeat-mediated 73bdbaee-328d-11e6-8ac8-88d65d753391 3_150354584_ATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 3 150354584 AT A 300 PASS - Del - 1 7 POLE child 3_150354584_ATA_POLE 1 1 1 T 6 T Repeat-mediated 73bf9544-3283-11e6-8789-bb6f2aaffa45 11_105406611_CCT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 11 105406611 C CT 600 PASS RP11-94P11.4 Ins upstream 1 5 POLE child 11_105406611_CCT_POLE 1 1 - - - - Ins 73c27d00-326e-11e6-bc62-6d4742c4520d 16_47208941_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 47208941 G GA 840 PASS ITFG1 Ins intronic 1 2 MSH6 child 16_47208941_GGA_MSH6 1 1 - - - - Ins 73c3029c-326f-11e6-8c6e-e9d52aaffa45 18_66659865_AACTTTATTATTTGGAAGGGGGAAGAAGAGGTCCTTGGCACTAGTTGGAATGGAAGCTCCAGGGGCAGAGGCTGGGGAGTTCTGGGGCTCCGCTCTCGCCAGGCAGTGTGGGCATGCTGGCCAGGGCAGGCAGCAGGTGTGAATATGTGTCAACCCAGGAGGAACGCAGCCTCATGTAGCCACTCGTCGTGGTCATGCAGCAGCACAGGTGTGTGGCTCATGGGTGAGAAGCCCTACGGCACAGAAGAAACAGCTGTCAGTGGCAGCCAGAGTGTGAGGTTCATGCCCTTGCAGACCTGGCTAAAAGCTGCCCACCAGAGGTCTGAGTCATTAGTAGGTGTCACTCAGAGCTGCATCCGCTTCTGAGCAAACTCGAAAATGTGACCCTGTCTCCAGCTGTCTGGCACCAGCCCTGCAGCTGCTGCTCAAAAGCTTTCAGGTCCACATCTGGTGCCACAGCAAAGTCTGAGCTGGCGCTTATAGTGGCAGTTGCCCATGTTATAAGCCATGCCACCCTCTAGCTTACTCAGGTTCACGGAGGTCACAGCCCCACCCTTTAGATAGGGGTTTGACTGCAGCCTCTGCCTTTCTATCTCCCAAAGGTTGAGATCCAGCTCATAGCCTCGTACAGCTTTCCTGCAGCTGTGCCCTCGCTGAAGCAGAGCCCTGGCCTAGCCTCTGAGTGCTGGTGACCCGCACCCAAGGGACTCTGCTAACTATCAAACACAGTGAAGGCATCAGTTGGCTCATGACAGATTGTCACATATTCTTTAGATGGTTTTAAGAAGGATACATACAGTTATAGTGAAATGCCTGCCTTCCATTTCTTCCCTCTTTTCCTGTAATAAAGATACACAGTGCTGAATGTTCTTTCTGTGTATATTTTTGGTCTTTTACTACATATTAGTGTACTCACAACAATATTTCATTACTTTATGCAAAATTTAAATGACCGATTTTATCCTATATAATTCTGCAGCTTGCTTTTGACACTAAAAATATTTTACAGATGTATGTATATTGATAAATGAAAGTCTAACTAGTTAATCTTAAATGTTATAGGAACCA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 18 66659865 AACTTTATTATTTGGAAGGGGGAAGAAGAGGTCCTTGGCACTAGTTGGAATGGAAGCTCCAGGGGCAGAGGCTGGGGAGTTCTGGGGCTCCGCTCTCGCCAGGCAGTGTGGGCATGCTGGCCAGGGCAGGCAGCAGGTGTGAATATGTGTCAACCCAGGAGGAACGCAGCCTCATGTAGCCACTCGTCGTGGTCATGCAGCAGCACAGGTGTGTGGCTCATGGGTGAGAAGCCCTACGGCACAGAAGAAACAGCTGTCAGTGGCAGCCAGAGTGTGAGGTTCATGCCCTTGCAGACCTGGCTAAAAGCTGCCCACCAGAGGTCTGAGTCATTAGTAGGTGTCACTCAGAGCTGCATCCGCTTCTGAGCAAACTCGAAAATGTGACCCTGTCTCCAGCTGTCTGGCACCAGCCCTGCAGCTGCTGCTCAAAAGCTTTCAGGTCCACATCTGGTGCCACAGCAAAGTCTGAGCTGGCGCTTATAGTGGCAGTTGCCCATGTTATAAGCCATGCCACCCTCTAGCTTACTCAGGTTCACGGAGGTCACAGCCCCACCCTTTAGATAGGGGTTTGACTGCAGCCTCTGCCTTTCTATCTCCCAAAGGTTGAGATCCAGCTCATAGCCTCGTACAGCTTTCCTGCAGCTGTGCCCTCGCTGAAGCAGAGCCCTGGCCTAGCCTCTGAGTGCTGGTGACCCGCACCCAAGGGACTCTGCTAACTATCAAACACAGTGAAGGCATCAGTTGGCTCATGACAGATTGTCACATATTCTTTAGATGGTTTTAAGAAGGATACATACAGTTATAGTGAAATGCCTGCCTTCCATTTCTTCCCTCTTTTCCTGTAATAAAGATACACAGTGCTGAATGTTCTTTCTGTGTATATTTTTGGTCTTTTACTACATATTAGTGTACTCACAACAATATTTCATTACTTTATGCAAAATTTAAATGACCGATTTTATCCTATATAATTCTGCAGCTTGCTTTTGACACTAAAAATATTTTACAGATGTATGTATATTGATAAATGAAAGTCTAACTAGTTAATCTTAAATGTTATAGGAACC A 540 PASS CCDC102B Del intronic 1066 1 POLM child 18_66659865_AACTTTATTATTTGGAAGGGGGAAGAAGAGGTCCTTGGCACTAGTTGGAATGGAAGCTCCAGGGGCAGAGGCTGGGGAGTTCTGGGGCTCCGCTCTCGCCAGGCAGTGTGGGCATGCTGGCCAGGGCAGGCAGCAGGTGTGAATATGTGTCAACCCAGGAGGAACGCAGCCTCATGTAGCCACTCGTCGTGGTCATGCAGCAGCACAGGTGTGTGGCTCATGGGTGAGAAGCCCTACGGCACAGAAGAAACAGCTGTCAGTGGCAGCCAGAGTGTGAGGTTCATGCCCTTGCAGACCTGGCTAAAAGCTGCCCACCAGAGGTCTGAGTCATTAGTAGGTGTCACTCAGAGCTGCATCCGCTTCTGAGCAAACTCGAAAATGTGACCCTGTCTCCAGCTGTCTGGCACCAGCCCTGCAGCTGCTGCTCAAAAGCTTTCAGGTCCACATCTGGTGCCACAGCAAAGTCTGAGCTGGCGCTTATAGTGGCAGTTGCCCATGTTATAAGCCATGCCACCCTCTAGCTTACTCAGGTTCACGGAGGTCACAGCCCCACCCTTTAGATAGGGGTTTGACTGCAGCCTCTGCCTTTCTATCTCCCAAAGGTTGAGATCCAGCTCATAGCCTCGTACAGCTTTCCTGCAGCTGTGCCCTCGCTGAAGCAGAGCCCTGGCCTAGCCTCTGAGTGCTGGTGACCCGCACCCAAGGGACTCTGCTAACTATCAAACACAGTGAAGGCATCAGTTGGCTCATGACAGATTGTCACATATTCTTTAGATGGTTTTAAGAAGGATACATACAGTTATAGTGAAATGCCTGCCTTCCATTTCTTCCCTCTTTTCCTGTAATAAAGATACACAGTGCTGAATGTTCTTTCTGTGTATATTTTTGGTCTTTTACTACATATTAGTGTACTCACAACAATATTTCATTACTTTATGCAAAATTTAAATGACCGATTTTATCCTATATAATTCTGCAGCTTGCTTTTGACACTAAAAATATTTTACAGATGTATGTATATTGATAAATGAAAGTCTAACTAGTTAATCTTAAATGTTATAGGAACCA_POLM 1066 >=10 3 ACT 0 - Microhomology-mediated 73d34a02-328e-11e6-8e48-791e0e01a414 8_55442127_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 55442127 TA T 300 PASS - Del - 1 7 MSH6 child 8_55442127_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 73e3057c-3271-11e6-a390-fc104530f757 1_40906731_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 40906731 AT A 300 PASS - Del - 1 7 FANCC child 1_40906731_ATA_FANCC 1 1 1 T 6 T Repeat-mediated 73eb922e-328e-11e6-bb1e-70e16f39e758 X_56705175_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 56705175 TA T 591 PASS - Del - 1 5 MSH6 child X_56705175_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 73ef1ac8-329a-11e6-8069-175325c9da85 12_32568096_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 32568096 GT G 950 PASS - Del - 1 8 MSH6 child 12_32568096_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 73f18aee-3289-11e6-94b1-74090e01a414 17_9527423_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 9527423 AT A 480 PASS WDR16 Del intronic 1 6 MSH6 child 17_9527423_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 73fa7bba-328c-11e6-b805-77090e01a414 2_210991238_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 210991238 TA T 420 PASS KANSL1L Del intronic 1 7 MSH6 child 2_210991238_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 740b8eb4-3278-11e6-a391-f6d67d6a9fc7 6_63183221_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 63183221 TA T 540 PASS - Del - 1 7 MSH6 child 6_63183221_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 741ae308-3284-11e6-9daa-026ea2c71c31 14_28085584_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 28085584 CA C 480 PASS LINC00645 Del intronic 1 8 MSH6 child 14_28085584_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 741b0340-3272-11e6-b8ae-92c57872c165 14_22980642_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 22980642 AT A 480 PASS - Del - 1 9 MSH6 child 14_22980642_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 741e49c4-3290-11e6-92db-6c56f0f7a29c 1_199163618_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 1 199163618 CA C 300 PASS RP11-382E9.1 Del intronic 1 9 NEIL1 child 1_199163618_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 74285f00-3276-11e6-8703-f161e7d0bdd7 X_82294453_ACTCTA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA X 82294453 ACTCT A 420 PASS - Del - 4 5 POLB child X_82294453_ACTCTA_POLB 4 4 4 CTCT 3 CT Repeat-mediated 7428c376-32a0-11e6-bc66-17b4cc638e3d 8_107688816_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 107688816 AT A 780 PASS OXR1 Del intronic 1 8 MSH6 child 8_107688816_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 742ea9c6-3291-11e6-9d97-efe56f39e758 4_188522603_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 188522603 TA T 480 PASS RP11-565A3.2 Del intronic 1 9 MSH6 child 4_188522603_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 744187d0-3273-11e6-83ef-69fb06e9a829 18_73964866_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 73964866 CT C 960 PASS RP11-94B19.3 Del upstream 1 8 MSH6 child 18_73964866_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 744735f0-3286-11e6-afcf-0311bce6aa09 9_80829769_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 80829769 GA G 300 PASS - Del - 1 9 MSH6 child 9_80829769_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7447cc12-3287-11e6-997d-e46e3adbad45 12_53673831_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 12 53673831 CT C 900 PASS ESPL1 Del intronic 1 2 NUDT1 parent 12_53673831_CTC_NUDT1 1 1 1 T 1 T Repeat-mediated 744c083c-327c-11e6-a791-f4a03adbad45 18_41891239_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 18 41891239 AT A 540 PASS - Del - 1 9 NUDT1 child 18_41891239_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 744dd7ca-3254-11e6-b4d0-327a7872c165 11_63474951_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 63474951 CA C 660 PASS RTN3 Del intronic 1 8 MSH6 child 11_63474951_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 744df7b4-3286-11e6-a5b3-3f1ebce6aa09 7_2393073_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 2393073 CT C 300 PASS EIF3B Del upstream 1 5 MSH6 child 7_2393073_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 74518acc-329b-11e6-ae71-0c5325c9da85 1_85008183_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 85008183 GT G 840 PASS - Del - 1 8 MSH6 child 1_85008183_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 745206e0-3283-11e6-9a0d-f803987b3f23 19_41345632_AAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 19 41345632 A AT 308 PASS CYP2A6 Ins downstream 1 0 NEIL1 parent 19_41345632_AAT_NEIL1 1 1 - - - - Ins 745cd72c-328e-11e6-bfa2-581f0e01a414 7_104508929_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 104508929 CA C 391 PASS LHFPL3 Del intronic 1 8 MSH6 child 7_104508929_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 745ce690-3270-11e6-a539-0e5542c4520d 7_104508929_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 104508929 CA C 435 PASS LHFPL3 Del intronic 1 8 MSH6 child 7_104508929_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 7469dd32-328e-11e6-bcba-4aab4430f757 2_193914042_CAC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 2 193914042 CA C 420 PASS - Del - 1 9 POLE child 2_193914042_CAC_POLE 1 1 1 A 8 A Repeat-mediated 746e50d0-3291-11e6-99d8-a1aee7d0bdd7 8_115807631_GTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 115807631 GT G 720 PASS - Del - 1 5 FANCC child 8_115807631_GTG_FANCC 1 1 1 T 4 T Repeat-mediated 746ea948-328e-11e6-ace9-29a5e7d0bdd7 16_58723729_TGT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 16 58723729 TG T 420 PASS SLC38A7 Del upstream 1 4 FANCC child 16_58723729_TGT_FANCC 1 1 1 G 3 G Repeat-mediated 749172e8-3289-11e6-a7cf-80090e01a414 15_25631878_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 25631878 GA G 360 PASS UBE3A Del intronic 1 7 MSH6 child 15_25631878_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 749bdef6-328c-11e6-9c89-8d090e01a414 1_190010335_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 190010335 CT C 300 PASS - Del - 1 8 MSH6 child 1_190010335_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 749cd16c-32a0-11e6-bc66-17b4cc638e3d 8_107818027_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 107818027 AT A 600 PASS - Del - 1 9 MSH6 child 8_107818027_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 74a68f6e-3254-11e6-89d3-d29498816cf3 2_100936902_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 100936902 CT C 360 PASS LONRF2 Del intronic 1 9 MSH6 child 2_100936902_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 74ae1fce-3257-11e6-acc5-308412ae24cf 5_74784161_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 74784161 AT A 480 PASS COL4A3BP Del intronic 1 8 MSH6 child 5_74784161_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 74c1c844-3270-11e6-b923-6726694da5d2 5_68454189_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 68454189 CT C 480 PASS - Del - 1 8 MSH6 child 5_68454189_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 74c63cf2-326c-11e6-a0a8-b0f43cc9300a 1_32141113_ACA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 1 32141113 AC A 300 PASS COL16A1 Del intronic 1 6 POLM parent 1_32141113_ACA_POLM 1 1 1 C 5 C Repeat-mediated 74c92ff8-329d-11e6-aca6-b39fcc638e3d 2_234409254_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 234409254 CA C 360 PASS USP40 Del intronic 1 8 MSH6 child 2_234409254_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 74cb91f4-329c-11e6-a5cf-e5abcc638e3d 9_15267788_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 15267788 CT C 660 PASS TTC39B Del intronic 1 9 MSH6 child 9_15267788_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 74e00546-326d-11e6-b9f4-5d1d694da5d2 14_76147687_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 76147687 AT A 420 PASS TTLL5 Del intronic 1 5 MSH6 child 14_76147687_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 74e271e2-328a-11e6-aff5-85090e01a414 16_67080295_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 67080295 AT A 677 PASS CBFB Del intronic 1 9 MSH6 child 16_67080295_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 74e7829e-328b-11e6-b805-77090e01a414 2_147594152_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 147594152 GA G 420 PASS AC103881.1 Del upstream 1 9 MSH6 child 2_147594152_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 74ecec84-3259-11e6-b25c-c08312ae24cf 6_33197843_TTA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 6 33197843 T TA 480 PASS - Ins - 1 7 POLB child 6_33197843_TTA_POLB 1 1 - - - - Ins 74f08f5a-3273-11e6-8f33-a6d9cde16804 11_97744445_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 97744445 TA T 480 PASS - Del - 1 8 MSH6 child 11_97744445_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 74f39500-3279-11e6-a391-f6d67d6a9fc7 6_137373384_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 137373384 TC T 600 PASS - Del - 1 4 MSH6 child 6_137373384_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 74f9cb78-3279-11e6-8a64-801e9a696edf 3_65085463_GTG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 3 65085463 GT G 300 PASS - Del - 1 9 POLM child 3_65085463_GTG_POLM 1 1 1 T 8 T Repeat-mediated 7500c9ce-326e-11e6-acc7-e55219a91649 1_171290369_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 171290369 GA G 300 PASS FMO4 Del intronic 1 8 MSH6 child 1_171290369_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 750fe382-3291-11e6-8b9f-eea73adbad45 3_16356212_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 16356212 CT C 300 PASS RFTN1 Del downstream 1 7 NEIL1 child 3_16356212_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 751c12cc-3284-11e6-821e-69f1bbe6aa09 16_9720169_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 9720169 TA T 480 PASS - Del - 1 9 MSH6 child 16_9720169_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 75313536-3323-11e6-8d31-31bce7d0bdd7 1_225320104_ACA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 1 225320104 AC A 360 PASS DNAH14 Del intronic 1 6 EXO1 child 1_225320104_ACA_EXO1 1 1 1 C 5 C Repeat-mediated 7537a51e-3284-11e6-8b67-086ea2c71c31 1_10450227_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 10450227 GA G 540 PASS - Del - 1 9 MSH6 child 1_10450227_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 753c0882-3349-11e6-be18-768ca20b69d5 3_29563330_ACTA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 29563330 ACT A 300 PASS RBMS3 Del intronic 2 2 FANCC child 3_29563330_ACTA_FANCC 2 2 2 CT 1 CT Repeat-mediated 75425e0c-329b-11e6-9048-b49fcc638e3d 17_71187432_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 71187432 CT C 540 PASS COG1 Del upstream 1 7 MSH6 child 17_71187432_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 75542268-328c-11e6-9e01-8e5c694da5d2 12_4429983_AACA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 12 4429983 AAC A 780 PASS C12orf5 Del upstream 2 2 POLM child 12_4429983_AACA_POLM 2 2 2 AC 1 AC Repeat-mediated 755b12a4-3286-11e6-a21c-b819bce6aa09 X_27867006_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 27867006 AT A 300 PASS - Del - 1 8 MSH6 child X_27867006_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 756270a2-3287-11e6-9766-8c8ca2c71c31 22_34800751_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 34800751 TA T 300 PASS - Del - 1 8 MSH6 child 22_34800751_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 75671bc0-329b-11e6-b723-b29fcc638e3d 19_57861599_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 57861599 CT C 1200 PASS ZNF304 Del upstream 1 9 MSH6 child 19_57861599_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 756a95e8-3282-11e6-9cfc-ec8590e2c2e6 1_181426221_AAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 1 181426221 A AT 420 PASS CACNA1E Ins intronic 1 5 NUDT1 child 1_181426221_AAT_NUDT1 1 1 - - - - Ins 75728b8c-3277-11e6-998e-ba48fa52e078 8_141187198_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 141187198 CT C 480 PASS TRAPPC9 Del intronic 1 6 MSH6 child 8_141187198_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 75772e9e-3277-11e6-9ac6-2f1c25864c47 6_152518794_CTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 6 152518794 CT C 720 PASS SYNE1 Del intronic 1 8 POLB child 6_152518794_CTC_POLB 1 1 1 T 7 T Repeat-mediated 7583e0e8-3273-11e6-9309-bdc34a47a305 8_143706087_AAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 143706087 A AC 960 PASS - Ins - 1 3 MSH6 child 8_143706087_AAC_MSH6 1 1 - - - - Ins 759cde66-3275-11e6-9074-69cc19a91649 X_24752742_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA X 24752742 CT C 420 PASS POLA1 Del intronic 1 9 EXO1 child X_24752742_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 75a07760-329d-11e6-aca6-b39fcc638e3d 2_234721411_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 234721411 CA C 600 PASS - Del - 1 9 MSH6 child 2_234721411_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 75a08918-3274-11e6-9970-2347694da5d2 9_33320949_GTCTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 9 33320949 GTCT G 360 PASS NFX1 Del intronic 3 2 NUDT1 child 9_33320949_GTCTG_NUDT1 3 3 3 TCT 1 TCT Repeat-mediated 75aabc48-3289-11e6-87f2-0048d5dcf142 14_58014061_CTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 14 58014061 CT C 420 PASS - Del - 1 7 NUDT1 child 14_58014061_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 75adadde-3290-11e6-bfa2-581f0e01a414 7_74016921_AAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 74016921 A AG 300 PASS GTF2IRD1 Ins 3prime_UTR_variant 1 1 MSH6 child 7_74016921_AAG_MSH6 1 1 - - - - Ins 75bf93ae-3287-11e6-a5b3-3f1ebce6aa09 7_95087873_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 95087873 CT C 540 PASS - Del - 1 7 MSH6 child 7_95087873_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 75cdaed4-3274-11e6-a5d0-4fd14a47a305 2_182967704_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 182967704 AT A 480 PASS PPP1R1C Del intronic 1 7 MSH6 child 2_182967704_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 75cdf714-328c-11e6-8106-81c36f39e758 19_44314795_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 44314795 CT C 360 PASS LYPD5 Del intronic 1 8 MSH6 child 19_44314795_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 75e03e3c-3274-11e6-8e5a-ca301daa6045 18_75608404_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 18 75608404 GA G 300 PASS - Del - 1 9 EXO1 child 18_75608404_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 75e412a6-325a-11e6-91d3-a68412ae24cf 7_134022850_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 134022850 C CA 540 PASS - Ins - 1 8 MSH6 child 7_134022850_CCA_MSH6 1 1 - - - - Ins 75e5a11c-3254-11e6-a4a7-35f212ae24cf 14_77258707_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 77258707 CA C 660 PASS ANGEL1 Del intronic 1 8 MSH6 child 14_77258707_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 76007cca-3291-11e6-aaa2-31b34430f757 4_183101084_ATA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 4 183101084 AT A 540 PASS TENM3 Del intronic 1 5 POLE child 4_183101084_ATA_POLE 1 1 1 T 4 T Repeat-mediated 76033606-3276-11e6-8e2a-7f03630e6611 X_107166366_AATCAGAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA X 107166366 A ATCAGAT 420 PASS MID2 Ins intronic 6 0 FANCC child X_107166366_AATCAGAT_FANCC 6 6 - - - - Ins 7604f622-3284-11e6-8ebc-68f1bbe6aa09 18_11781530_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 11781530 CA C 660 PASS GNAL Del intronic 1 6 MSH6 child 18_11781530_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 7608f9b4-329a-11e6-b723-b29fcc638e3d 19_29201621_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 29201621 TA T 660 PASS AC005307.3 Del intronic 1 9 MSH6 child 19_29201621_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 761b2be8-3259-11e6-9d15-298312ae24cf X_66187503_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 66187503 T TA 480 PASS - Ins - 1 6 MSH6 child X_66187503_TTA_MSH6 1 1 - - - - Ins 761b9530-327f-11e6-aba2-2800bce6aa09 18_2395086_CTTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 18 2395086 CTT C 540 PASS - Del - 2 3 POLM child 18_2395086_CTTC_POLM 2 2 1 T 0 - Microhomology-mediated 762540ac-328a-11e6-a19d-3c763adbad45 4_168175946_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 168175946 CT C 660 PASS - Del - 1 3 NUDT1 parent 4_168175946_CTC_NUDT1 1 1 1 T 2 T Repeat-mediated 762bb6f6-3273-11e6-8f33-a6d9cde16804 11_98024969_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 98024969 GT G 420 PASS - Del - 1 9 MSH6 child 11_98024969_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 762e4d9a-3286-11e6-b093-c9c7b0dab373 2_170469842_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 170469842 AT A 660 PASS PPIG Del intronic 1 6 MSH6 child 2_170469842_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 764725e0-334e-11e6-be18-768ca20b69d5 3_180469074_AAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 180469074 A AT 540 PASS - Ins - 1 6 FANCC child 3_180469074_AAT_FANCC 1 1 - - - - Ins 76481b2a-328c-11e6-8106-81c36f39e758 19_44436921_ATCTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 44436921 ATCT A 420 PASS ZNF45 Del intronic 3 1 MSH6 child 19_44436921_ATCTA_MSH6 3 3 1 T 0 - Microhomology-mediated 764894d4-3281-11e6-8cf9-a42236fc2f7d 17_45639773_CTTGC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 17 45639773 CTTG C 355 PASS NPEPPS Del intronic 3 2 NUDT1 child 17_45639773_CTTGC_NUDT1 3 3 3 TTG 1 TTG Repeat-mediated 764c21a0-329d-11e6-bc66-17b4cc638e3d 8_4712834_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 4712834 GA G 567 PASS CSMD1 Del intronic 1 6 MSH6 child 8_4712834_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 764c233c-3287-11e6-a5b3-3f1ebce6aa09 7_95323860_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 95323860 GT G 540 PASS - Del - 1 9 MSH6 child 7_95323860_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 764fc76c-32a0-11e6-aea7-956725c9da85 3_133931463_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 133931463 TG T 660 PASS RYK Del intronic 1 6 MSH6 child 3_133931463_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 76503dec-3286-11e6-b093-c9c7b0dab373 2_170540378_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 170540378 GA G 300 PASS CCDC173 Del intronic 1 9 MSH6 child 2_170540378_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7651a39c-328d-11e6-a80b-87090e01a414 11_128227000_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 128227000 C CA 540 PASS - Ins - 1 7 MSH6 child 11_128227000_CCA_MSH6 1 1 - - - - Ins 765c91a8-3323-11e6-917a-b666694da5d2 11_127987527_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 11 127987527 GA G 780 PASS - Del - 1 9 EXO1 child 11_127987527_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 765f7ddc-3328-11e6-8b1e-ddf006e9a829 20_18867997_CATC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 20 18867997 CAT C 300 PASS - Del - 2 1 POLE child 20_18867997_CATC_POLE 2 2 1 A 0 - Microhomology-mediated 76695aa6-3278-11e6-9d67-093b98ba1142 4_138344975_GTG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 4 138344975 GT G 480 PASS - Del - 1 7 POLM child 4_138344975_GTG_POLM 1 1 1 T 6 T Repeat-mediated 767a4d3c-3284-11e6-be43-0a6ea2c71c31 10_9879586_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 9879586 CA C 300 PASS - Del - 1 9 MSH6 child 10_9879586_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 767e8a2a-3273-11e6-94cc-1ec335cec73b 19_38541111_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 38541111 CA C 780 PASS SIPA1L3 Del intronic 1 7 MSH6 child 19_38541111_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 76812fca-3320-11e6-8b89-aa119a696edf 14_39418116_TAATAAAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 14 39418116 TAATAAA T 441 PASS LINC00639 Del upstream 6 2 CHK2 child 14_39418116_TAATAAAT_CHK2 6 6 6 AATAAA 1 AATAAA Repeat-mediated 768660b4-3279-11e6-9484-e5b5cc638e3d 6_119731943_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 6 119731943 TA T 360 PASS - Del - 1 9 EXO1 child 6_119731943_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 768ac0ee-328f-11e6-ad16-6b56f0f7a29c 10_105891964_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 10 105891964 TA T 540 PASS WDR96 Del intronic 1 9 NEIL1 child 10_105891964_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 768bab74-325a-11e6-8340-da9012ae24cf 6_139076915_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 139076915 CT C 540 PASS - Del - 1 4 MSH6 child 6_139076915_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 76a793ae-329e-11e6-8c2e-3f6625c9da85 22_31331573_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 31331573 CA C 600 PASS MORC2 Del intronic 1 5 MSH6 child 22_31331573_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 76ab0b12-328d-11e6-bfa2-581f0e01a414 7_49075243_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 49075243 AT A 300 PASS - Del - 1 9 MSH6 child 7_49075243_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 76ab50c8-3273-11e6-a390-fc104530f757 1_184301395_ATCTCCCACTGGCTA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 184301395 ATCTCCCACTGGCT A 360 PASS RP11-382D12.1 Del intronic 13 1 FANCC child 1_184301395_ATCTCCCACTGGCTA_FANCC 13 >=10 2 TC 0 - Microhomology-mediated 76ab5d08-3295-11e6-b7af-6ffe6ca5563b 5_135035966_CAGGC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 5 135035966 CAGG C 540 PASS - Del - 3 1 POLB child 5_135035966_CAGGC_POLB 3 3 2 AG 0 - Microhomology-mediated 76b5e3f0-328f-11e6-9432-c0e56f39e758 5_58631433_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 58631433 CT C 480 PASS PDE4D Del intronic 1 9 MSH6 child 5_58631433_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 76b65eb0-3272-11e6-bfb2-2749c225ee11 12_8849717_CTTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 8849717 CTT C 540 PASS RIMKLB Del upstream 2 4 MSH6 child 12_8849717_CTTC_MSH6 2 2 2 TT 2 T Repeat-mediated 76bbdefc-328c-11e6-88c1-95c36f39e758 14_75425821_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 75425821 AG A 540 PASS PGF Del upstream 1 5 MSH6 child 14_75425821_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 76c6f8ec-326d-11e6-acc7-e55219a91649 1_87390484_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 87390484 TG T 600 PASS HS2ST1 Del intronic 1 7 MSH6 child 1_87390484_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 76cb0c04-328e-11e6-ae83-5ae3191589db 6_38113473_TGCCGGGAATGTGTTTCTAAGT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 6 38113473 TGCCGGGAATGTGTTTCTAAG T 660 PASS ZFAND3 Del intronic 20 1 FANCC child 6_38113473_TGCCGGGAATGTGTTTCTAAGT_FANCC 20 >=10 3 GCC 0 - Microhomology-mediated 76ccdfc2-32a0-11e6-bc2c-2a5e25c9da85 4_25271345_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 25271345 G GT 600 PASS PI4K2B Ins intronic 1 7 MSH6 child 4_25271345_GGT_MSH6 1 1 - - - - Ins 76db08e2-3285-11e6-b2eb-d63a9ecd0b3a 21_32788637_AAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 21 32788637 A AT 360 PASS TIAM1 Ins intronic 1 6 POLB child 21_32788637_AAT_POLB 1 1 - - - - Ins 76dd1b6e-328a-11e6-807d-afc430158702 19_6290823_GAG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 19 6290823 GA G 300 PASS - Del - 1 7 POLM child 19_6290823_GAG_POLM 1 1 1 A 6 A Repeat-mediated 76eb5d2c-3259-11e6-8cd9-139b7872c165 3_151534549_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 151534549 CT C 300 PASS AADAC Del intronic 1 9 MSH6 child 3_151534549_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 77043602-328c-11e6-b6a6-1f1e0e01a414 4_3276133_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 3276133 GT G 300 PASS - Del - 1 2 MSH6 child 4_3276133_GTG_MSH6 1 1 1 T 1 T Repeat-mediated 771d147a-3272-11e6-bbeb-70bd19a91649 20_35669733_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 35669733 AT A 360 PASS RBL1 Del intronic 1 9 MSH6 child 20_35669733_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 772dfb1c-326f-11e6-a073-e3d0d7fd0a58 13_58481184_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 13 58481184 CT C 660 PASS - Del - 1 8 NUDT1 child 13_58481184_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 7730765a-3272-11e6-9850-b83e75253f64 12_108023199_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 108023199 CA C 480 PASS BTBD11 Del intronic 1 9 FANCC child 12_108023199_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 7731c908-3270-11e6-8e5c-87d3d7fd0a58 1_100497212_GAG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 1 100497212 GA G 420 PASS SLC35A3 Del downstream 1 8 POLB child 1_100497212_GAG_POLB 1 1 1 A 7 A Repeat-mediated 77362b52-3283-11e6-ba13-7508694da5d2 8_137630597_GCG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 8 137630597 GC G 300 PASS RP11-30J20.1 Del intronic 1 1 NEIL1 child 8_137630597_GCG_NEIL1 1 1 0 - 0 C None 773ec20a-3254-11e6-a304-347a7872c165 1_53367088_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 53367088 GA G 480 PASS ECHDC2 Del intronic 1 8 MSH6 child 1_53367088_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 77402268-328f-11e6-a454-be257a852e0e 17_3129111_TAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 17 3129111 TA T 360 PASS - Del - 1 2 CHK2 child 17_3129111_TAT_CHK2 1 1 1 A 1 A Repeat-mediated 774a5d6c-328c-11e6-b9c4-751d0e01a414 5_15988082_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 15988082 CT C 360 PASS - Del - 1 7 MSH6 child 5_15988082_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 774b0e4c-32a0-11e6-bc66-17b4cc638e3d 8_108600394_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 108600394 TC T 420 PASS - Del - 1 5 MSH6 child 8_108600394_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 774b53de-3278-11e6-9484-e5b5cc638e3d 6_42250475_TATAGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 6 42250475 TATAG T 300 PASS TRERF1 Del intronic 4 2 EXO1 child 6_42250475_TATAGT_EXO1 4 4 4 ATAG 1 ATAG Repeat-mediated 774bb224-3292-11e6-919e-92c36f39e758 2_228909299_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 228909299 C CA 847 PASS SPHKAP Ins intronic 1 7 MSH6 child 2_228909299_CCA_MSH6 1 1 - - - - Ins 774c8680-3275-11e6-b2b6-6589a20b69d5 8_128474316_AGA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 8 128474316 AG A 480 PASS - Del - 1 6 POLB child 8_128474316_AGA_POLB 1 1 1 G 5 G Repeat-mediated 77621b7c-3292-11e6-bc33-715238e8a824 2_69938007_TTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 2 69938007 T TC 420 PASS AC092431.3 Ins intronic 1 1 FANCC child 2_69938007_TTC_FANCC 1 1 - - - - Ins 776266b6-3276-11e6-abaf-4642cab49462 6_162502954_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 162502954 G GA 420 PASS PARK2 Ins intronic 1 1 MSH6 child 6_162502954_GGA_MSH6 1 1 - - - - Ins 77696afe-326e-11e6-bfba-13bf4a47a305 9_3107299_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 3107299 GA G 360 PASS - Del - 1 7 MSH6 child 9_3107299_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 776ff6c0-326f-11e6-b5b8-e0c24a47a305 X_41954721_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 41954721 AT A 300 PASS - Del - 1 9 MSH6 child X_41954721_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 77722040-327d-11e6-a360-ea8590e2c2e6 11_106317157_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 11 106317157 CT C 540 PASS - Del - 1 7 NUDT1 child 11_106317157_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 7782c052-3288-11e6-b930-8f14987b3f23 4_109190183_TTA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 4 109190183 T TA 527 PASS - Ins - 1 5 NEIL1 parent 4_109190183_TTA_NEIL1 1 1 - - - - Ins 778b9e3e-3288-11e6-993a-93e95d753391 12_70990025_GGAAG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 12 70990025 GGAA G 360 PASS PTPRB Del inframe 3 2 POLE child 12_70990025_GGAAG_POLE 3 3 3 GAA 1 GAA Repeat-mediated 778f76a6-3348-11e6-a997-309d38e8a824 4_15250248_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 15250248 CA C 480 PASS - Del - 1 8 FANCC child 4_15250248_CAC_FANCC 1 1 1 A 7 A Repeat-mediated 77913976-3287-11e6-b32c-fd87a2c71c31 5_136343826_CGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 136343826 CG C 420 PASS SPOCK1 Del intronic 1 6 MSH6 child 5_136343826_CGC_MSH6 1 1 1 G 5 G Repeat-mediated 7791fc96-328f-11e6-b8e6-91c36f39e758 11_121915077_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 121915077 G GT 600 PASS - Ins - 1 7 MSH6 child 11_121915077_GGT_MSH6 1 1 - - - - Ins 779235ae-328e-11e6-b9c4-751d0e01a414 5_150453778_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 150453778 AT A 480 PASS TNIP1 Del intronic 1 8 MSH6 child 5_150453778_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 779ccd22-3273-11e6-8f33-a6d9cde16804 11_98336973_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 98336973 GT G 480 PASS - Del - 1 7 MSH6 child 11_98336973_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 779d26fc-328f-11e6-9432-c0e56f39e758 5_58909059_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 58909059 GA G 480 PASS PDE4D Del intronic 1 7 MSH6 child 5_58909059_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 779fd242-3291-11e6-b78c-8cb4e7d0bdd7 6_28316082_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 6 28316082 TA T 480 PASS ZKSCAN3 Del upstream 1 7 FANCC child 6_28316082_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 77aad85a-329f-11e6-a04f-c66a25c9da85 6_16777899_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 16777899 GA G 780 PASS - Del - 1 9 MSH6 child 6_16777899_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 77bf4a06-3272-11e6-bfb2-2749c225ee11 12_9069105_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 9069105 CA C 540 PASS PHC1 Del intronic 1 9 MSH6 child 12_9069105_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 77cabb8e-3281-11e6-9748-b96f2aaffa45 14_81269033_AAAGA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 14 81269033 AAAG A 480 PASS CEP128 Del intronic 3 1 POLE child 14_81269033_AAAGA_POLE 3 3 2 AA 0 - Microhomology-mediated 77cc1236-3272-11e6-8fc6-c022c7271a47 4_18514713_GAG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 4 18514713 GA G 540 PASS - Del - 1 9 POLB child 4_18514713_GAG_POLB 1 1 1 A 8 A Repeat-mediated 77cda73e-329c-11e6-a5cf-e5abcc638e3d 9_15876738_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 15876738 CT C 720 PASS CCDC171 Del intronic 1 9 MSH6 child 9_15876738_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 77d04926-3292-11e6-b25c-c77219a91649 8_71800892_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 8 71800892 AT A 780 PASS - Del - 1 8 NEIL1 child 8_71800892_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 77d9707a-3254-11e6-81f9-42f212ae24cf 17_45704920_CGC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 45704920 CG C 600 PASS NPEPPS Del downstream 1 7 MSH6 child 17_45704920_CGC_MSH6 1 1 1 G 6 G Repeat-mediated 77e16d2e-3287-11e6-bb85-03a66f39e758 4_81563509_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 81563509 GA G 300 PASS C4orf22 Del intronic 1 4 EXO1 child 4_81563509_GAG_EXO1 1 1 1 A 3 A Repeat-mediated 77e190d0-3320-11e6-bdbd-c43f07e9a829 17_28672456_ATCA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 17 28672456 ATC A 300 PASS - Del - 2 2 POLE child 17_28672456_ATCA_POLE 2 2 2 TC 1 TC Repeat-mediated 77ebeb4a-3292-11e6-b14c-5e337a852e0e X_16164542_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 16164542 AT A 300 PASS GRPR Del intronic 1 9 CHK2 child X_16164542_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 77f2258a-328a-11e6-9c89-8d090e01a414 1_62829347_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 62829347 CA C 300 PASS - Del - 1 7 MSH6 child 1_62829347_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 77f4b22e-3284-11e6-9f05-70ef1da8ec0e 10_67820330_AGAGTTCAAACCA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 67820330 AGAGTTCAAACC A 720 PASS CTNNA3 Del intronic 11 1 EXO1 child 10_67820330_AGAGTTCAAACCA_EXO1 11 >=10 0 - 0 - None 77f51b0e-329a-11e6-b085-e50098ba1142 4_188840083_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 4 188840083 TA T 780 PASS - Del - 1 7 CHK2 child 4_188840083_TAT_CHK2 1 1 1 A 6 A Repeat-mediated 77f54094-3280-11e6-9066-1ba854de4fc4 14_28061112_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 14 28061112 GA G 480 PASS - Del - 1 9 FANCC child 14_28061112_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 77ff2590-326d-11e6-bc62-6d4742c4520d 16_67018327_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 67018327 GT G 360 PASS CES4A Del upstream 1 9 MSH6 child 16_67018327_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 780560d2-3271-11e6-9850-b83e75253f64 12_47268341_GGAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 47268341 GGA G 360 PASS - Del - 2 6 FANCC child 12_47268341_GGAG_FANCC 2 2 2 GA 5 GA Repeat-mediated 780a60fe-3281-11e6-a5e9-0107694da5d2 7_85119774_CATC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 85119774 CAT C 360 PASS LINC00972 Del downstream 2 1 NEIL1 child 7_85119774_CATC_NEIL1 2 2 1 A 0 - Microhomology-mediated 780a90f6-3321-11e6-881c-c18230158702 10_67946589_CAC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 10 67946589 CA C 540 PASS CTNNA3 Del intronic 1 8 POLE child 10_67946589_CAC_POLE 1 1 1 A 7 A Repeat-mediated 780d9314-3290-11e6-9d24-ade56f39e758 7_124311651_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 124311651 TA T 780 PASS - Del - 1 6 MSH6 child 7_124311651_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 780e126a-328d-11e6-927f-cebe38e8a824 7_64528240_CCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 7 64528240 C CT 484 PASS - Ins - 1 1 NUDT1 parent 7_64528240_CCT_NUDT1 1 1 - - - - Ins 780ed1c8-3256-11e6-8d5e-9bf112ae24cf 9_106159748_CCT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 9 106159748 C CT 480 PASS RP11-436F21.1 Ins intronic 1 6 POLB child 9_106159748_CCT_POLB 1 1 - - - - Ins 7813e8f4-3272-11e6-b8ae-92c57872c165 14_23656804_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 23656804 AT A 540 PASS SLC7A8 Del upstream 1 9 MSH6 child 14_23656804_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7826256a-328a-11e6-b805-77090e01a414 2_78061464_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 78061464 TA T 360 PASS - Del - 1 8 MSH6 child 2_78061464_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 782fb0ee-3280-11e6-9066-1ba854de4fc4 14_28268097_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 14 28268097 GA G 300 PASS - Del - 1 8 FANCC child 14_28268097_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 783f0558-3271-11e6-9309-bdc34a47a305 8_123822185_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 123822185 AG A 300 PASS ZHX2 Del intronic 1 7 MSH6 child 8_123822185_AGA_MSH6 1 1 1 G 6 G Repeat-mediated 783fc932-32a0-11e6-a04f-c66a25c9da85 6_74950164_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 74950164 AT A 600 PASS RP11-554D15.1 Del intronic 1 9 MSH6 child 6_74950164_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7849cab0-328f-11e6-9d97-efe56f39e758 4_56973628_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 56973628 CT C 420 PASS - Del - 1 9 MSH6 child 4_56973628_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 784bae18-3279-11e6-a391-f6d67d6a9fc7 6_138269239_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 138269239 TA T 900 PASS RP11-10J5.1 Del upstream 1 8 MSH6 child 6_138269239_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 78525e8e-3274-11e6-9ef9-d85a25c9da85 3_141315812_CATC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 3 141315812 CAT C 900 PASS RASA2 Del intronic 2 2 POLM child 3_141315812_CATC_POLM 2 2 2 AT 1 AT Repeat-mediated 7853213a-328c-11e6-88c1-95c36f39e758 14_75749477_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 75749477 TA T 600 PASS FOS Del downstream 1 8 MSH6 child 14_75749477_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 78589fb2-3281-11e6-8767-7cd94dc77248 6_25660172_CCA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 6 25660172 C CA 660 PASS SCGN Ins intronic 1 7 NUDT1 child 6_25660172_CCA_NUDT1 1 1 - - - - Ins 785e1f78-328b-11e6-a4b4-e6cd191589db 17_49907738_TTTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 17 49907738 T TTC 600 PASS CA10 Ins intronic 2 5 FANCC child 17_49907738_TTTC_FANCC 2 2 - - - - Ins 7860e556-328f-11e6-8e48-791e0e01a414 8_128914007_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 128914007 TA T 360 PASS PVT1 Del intronic 1 3 MSH6 child 8_128914007_TAT_MSH6 1 1 1 A 2 A Repeat-mediated 7866d264-3289-11e6-8353-a446fd44d094 1_44755985_AGAAGGCCCAGGCTTGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 44755985 AGAAGGCCCAGGCTTG A 600 PASS ERI3 Del intronic 15 1 FANCC child 1_44755985_AGAAGGCCCAGGCTTGA_FANCC 15 >=10 2 GA 0 - Microhomology-mediated 787690aa-328e-11e6-bec1-ca1d0e01a414 X_98004693_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 98004693 CT C 300 PASS - Del - 1 9 MSH6 child X_98004693_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7889334a-3324-11e6-9432-0b923cfdbd24 9_128407192_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 9 128407192 GA G 420 PASS MAPKAP1 Del intronic 1 5 EXO1 child 9_128407192_GAG_EXO1 1 1 1 A 4 A Repeat-mediated 788cc350-329a-11e6-8d0f-075325c9da85 14_55672951_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 55672951 TA T 600 PASS - Del - 1 8 MSH6 child 14_55672951_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 78917294-328e-11e6-bec1-ca1d0e01a414 X_98054430_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 98054430 TA T 360 PASS - Del - 1 7 MSH6 child X_98054430_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 78929e2e-3281-11e6-9436-c28569062303 11_32577044_CAC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 11 32577044 CA C 900 PASS - Del - 1 8 POLE parent 11_32577044_CAC_POLE 1 1 1 A 7 A Repeat-mediated 78955bbc-326f-11e6-8f14-87641565c797 19_44884307_TGT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 19 44884307 TG T 540 PASS ZNF285 Del downstream 1 6 POLM child 19_44884307_TGT_POLM 1 1 1 G 5 G Repeat-mediated 789fe51e-3274-11e6-9d2c-d6a1cc638e3d 18_57876325_CTC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 18 57876325 CT C 600 PASS - Del - 1 7 NEIL1 child 18_57876325_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 78a392a0-3273-11e6-8f10-bfc27872c165 4_169649857_GTG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 169649857 GT G 360 PASS PALLD Del intronic 1 7 EXO1 parent 4_169649857_GTG_EXO1 1 1 1 T 6 T Repeat-mediated 78a800de-329f-11e6-b696-dd6225c9da85 5_156361442_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 156361442 GT G 480 PASS TIMD4 Del intronic 1 8 MSH6 child 5_156361442_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 78aafb3e-3256-11e6-a304-347a7872c165 1_203301213_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 203301213 CT C 660 PASS - Del - 1 9 MSH6 child 1_203301213_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 78ae0076-329d-11e6-b549-1e5325c9da85 10_83749860_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 83749860 G GT 660 PASS NRG3 Ins intronic 1 2 MSH6 child 10_83749860_GGT_MSH6 1 1 - - - - Ins 78b03edc-326f-11e6-bfba-13bf4a47a305 9_107630648_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 107630648 CA C 360 PASS ABCA1 Del intronic 1 8 MSH6 child 9_107630648_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 78b5a57c-3281-11e6-a363-a68d191589db 2_163477713_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 2 163477713 AT A 600 PASS KCNH7 Del intronic 1 9 POLM child 2_163477713_ATA_POLM 1 1 1 T 8 T Repeat-mediated 78c570b0-3272-11e6-83ef-69fb06e9a829 18_3918516_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 3918516 GA G 660 PASS DLGAP1 Del intronic 1 7 MSH6 child 18_3918516_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 78d99f78-3258-11e6-885f-d1947872c165 4_164201931_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 164201931 AT A 420 PASS - Del - 1 9 MSH6 child 4_164201931_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 78dd4f20-328e-11e6-b9c4-751d0e01a414 5_150679979_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 150679979 TG T 480 PASS SLC36A3 Del intronic 1 7 MSH6 child 5_150679979_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 78e3b96a-3274-11e6-a2a4-305390e2c2e6 3_115547670_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 115547670 TA T 840 PASS LSAMP Del intronic 1 8 POLB child 3_115547670_TAT_POLB 1 1 1 A 7 A Repeat-mediated 78e78c42-334c-11e6-840b-09aab0dab373 1_201814141_AAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 1 201814141 A AT 480 PASS IPO9 Ins intronic 1 7 FANCC child 1_201814141_AAT_FANCC 1 1 - - - - Ins 78f7cc8a-328c-11e6-a928-04c835cec73b 3_188782965_TTA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 3 188782965 T TA 540 PASS TPRG1 Ins intronic 1 8 POLE child 3_188782965_TTA_POLE 1 1 - - - - Ins 78fab560-328e-11e6-8e48-791e0e01a414 8_57131643_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 57131643 CA C 300 PASS CHCHD7 Del downstream 1 9 MSH6 child 8_57131643_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 790d95f2-3277-11e6-ab69-1c1607e9a829 9_84327551_CCAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 84327551 C CAT 540 PASS RP11-154D17.1 Ins intronic 2 0 MSH6 child 9_84327551_CCAT_MSH6 2 2 - - - - Ins 790f85e2-3272-11e6-94cc-1ec335cec73b 19_4205247_CCAAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 4205247 CCAA C 420 PASS ANKRD24 Del intronic 3 5 MSH6 child 19_4205247_CCAAC_MSH6 3 3 3 CAA 4 CAA Repeat-mediated 7912c090-32a4-11e6-aea7-956725c9da85 3_195250181_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 195250181 C CA 540 PASS PPP1R2 Ins intronic 1 1 MSH6 child 3_195250181_CCA_MSH6 1 1 - - - - Ins 7914ae52-3257-11e6-acc5-308412ae24cf 5_75899796_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 75899796 TA T 780 PASS IQGAP2 Del intronic 1 8 MSH6 child 5_75899796_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7916645e-329d-11e6-aca6-b39fcc638e3d 2_235580897_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 235580897 AT A 360 PASS - Del - 1 7 MSH6 child 2_235580897_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7917501c-3257-11e6-a7ac-209a7872c165 22_22468033_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 22468033 AC A 960 PASS - Del - 1 5 MSH6 child 22_22468033_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 791cf356-3292-11e6-b25c-c77219a91649 8_72548133_GCATTTTTTACTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 8 72548133 GCATTTTTTACT G 420 PASS - Del - 11 1 NEIL1 child 8_72548133_GCATTTTTTACTG_NEIL1 11 >=10 6 CATTTT 1 T Microhomology-mediated 7929c3e6-3284-11e6-9170-b6936f39e758 12_53391200_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 53391200 GA G 323 PASS - Del - 1 9 EXO1 child 12_53391200_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 792a5926-3290-11e6-9401-04ed6f39e758 3_33712853_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 33712853 CA C 600 PASS CLASP2 Del intronic 1 8 MSH6 child 3_33712853_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 792fe120-3295-11e6-9401-04ed6f39e758 3_191553361_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 191553361 T TA 480 PASS - Ins - 1 1 MSH6 child 3_191553361_TTA_MSH6 1 1 - - - - Ins 793140fe-328d-11e6-a83a-f948aa5f95ce 1_96105781_ACA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 1 96105781 AC A 480 PASS RP11-286B14.1 Del intronic 1 4 POLM child 1_96105781_ACA_POLM 1 1 1 C 3 C Repeat-mediated 79348ece-3325-11e6-bd60-7fd335cec73b 8_61312180_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 8 61312180 CA C 480 PASS RP11-163N6.2 Del downstream 1 7 CHK2 child 8_61312180_CAC_CHK2 1 1 1 A 6 A Repeat-mediated 7938dcfe-329e-11e6-a5cf-e5abcc638e3d 9_9795410_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 9795410 A AT 900 PASS PTPRD Ins intronic 1 1 MSH6 child 9_9795410_AAT_MSH6 1 1 - - - - Ins 793b13ac-3258-11e6-acc5-308412ae24cf 5_152653832_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 152653832 TA T 420 PASS - Del - 1 8 MSH6 child 5_152653832_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 793ba800-3323-11e6-98e4-0c20d8fd0a58 X_50611913_ATA . HAP1_CHK2_56 HAP1_parental_75_WT_DNA X 50611913 AT A 660 PASS - Del - 1 9 CHK2 parent X_50611913_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 793e4c5e-328d-11e6-b6a6-1f1e0e01a414 4_61265651_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 61265651 GA G 360 PASS - Del - 1 6 MSH6 child 4_61265651_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 79405c8e-32a0-11e6-a04f-c66a25c9da85 6_75365805_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 75365805 AT A 420 PASS RP11-554D15.1 Del intronic 1 6 MSH6 child 6_75365805_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 79421f14-326f-11e6-b5b8-e0c24a47a305 X_43189704_TTCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 43189704 TTC T 420 PASS - Del - 2 8 MSH6 child X_43189704_TTCT_MSH6 2 2 2 TC 7 TC Repeat-mediated 794c850e-3291-11e6-92cf-bf2a0e01a414 6_168572154_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 168572154 AT A 420 PASS - Del - 1 5 MSH6 child 6_168572154_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 794e02a6-328e-11e6-8952-77c36f39e758 10_64857456_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 64857456 A AT 360 PASS - Ins - 1 2 MSH6 child 10_64857456_AAT_MSH6 1 1 - - - - Ins 795de460-326f-11e6-b89d-b2d6b0dab373 4_2008612_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 2008612 TA T 960 PASS NELFA Del intronic 1 6 MSH6 child 4_2008612_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 79637004-328a-11e6-9255-fc4d90e2c2e6 6_146258764_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 6 146258764 GA G 720 PASS SHPRH Del intronic 1 8 POLE child 6_146258764_GAG_POLE 1 1 1 A 7 A Repeat-mediated 7965dd38-3255-11e6-bf41-357a7872c165 10_133124299_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 133124299 AT A 600 PASS - Del - 1 8 MSH6 child 10_133124299_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 796d209e-329f-11e6-94ca-0aaecc638e3d X_123591236_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 123591236 TA T 600 PASS TENM1 Del intronic 1 7 MSH6 child X_123591236_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7982d39a-328a-11e6-821d-8c090e01a414 13_94293428_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 94293428 GA G 480 PASS GPC6 Del intronic 1 9 MSH6 child 13_94293428_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 79845920-3287-11e6-8d3f-2a9c20e7b7a8 18_4345282_CTAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 18 4345282 CTA C 420 PASS DLGAP1 Del intronic 2 1 POLE child 18_4345282_CTAC_POLE 2 2 1 T 0 - Microhomology-mediated 798e18ca-3291-11e6-b77d-2eef6f39e758 6_66482517_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 66482517 CA C 480 PASS - Del - 1 9 MSH6 child 6_66482517_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 7991320e-3290-11e6-b81f-4ee66f39e758 8_48448251_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 48448251 TA T 780 PASS SPIDR Del intronic 1 9 MSH6 child 8_48448251_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7994964c-326d-11e6-b306-b5204b47a305 2_73585842_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 73585842 CT C 420 PASS - Del - 1 7 MSH6 child 2_73585842_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 799e1d04-3293-11e6-8c3d-0ab4e7d0bdd7 3_34278174_TTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 34278174 T TG 300 PASS AC018359.1 Ins intronic 1 3 FANCC child 3_34278174_TTG_FANCC 1 1 - - - - Ins 799e3d62-328d-11e6-b8e6-91c36f39e758 11_128385005_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 128385005 AT A 720 PASS ETS1 Del intronic 1 8 MSH6 child 11_128385005_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 79a04ba2-3292-11e6-b77d-2eef6f39e758 6_137200210_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 137200210 CT C 360 PASS PEX7 Del intronic 1 8 MSH6 child 6_137200210_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 79b10d56-327f-11e6-a8de-13fc028949d4 12_2674695_TTTGGTGTTGGGGCT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 12 2674695 TTTGGTGTTGGGGC T 460 PASS CACNA1C Del intronic 13 1 POLM child 12_2674695_TTTGGTGTTGGGGCT_POLM 13 >=10 3 TTG 0 - Microhomology-mediated 79b73ccc-3283-11e6-8fa3-1d15038949d4 4_83350244_ATCA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 4 83350244 ATC A 420 PASS HNRNPDL Del intronic 2 2 POLM child 4_83350244_ATCA_POLM 2 2 2 TC 1 TC Repeat-mediated 79bc4454-328a-11e6-a19d-3c763adbad45 4_169649857_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 169649857 GT G 480 PASS PALLD Del intronic 1 7 NUDT1 parent 4_169649857_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated 79beb994-32a0-11e6-bc66-17b4cc638e3d 8_109585945_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 109585945 CT C 600 PASS - Del - 1 7 MSH6 child 8_109585945_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 79c12d56-328b-11e6-b805-77090e01a414 2_149344613_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 149344613 AT A 300 PASS - Del - 1 7 MSH6 child 2_149344613_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 79c4770e-3290-11e6-92cf-bf2a0e01a414 6_107719179_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 107719179 TA T 300 PASS PDSS2 Del intronic 1 7 MSH6 child 6_107719179_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 79cc92c4-3324-11e6-8ba1-c7a030158702 21_45967463_TAT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 21 45967463 TA T 300 PASS TSPEAR Del intronic 1 6 POLE child 21_45967463_TAT_POLE 1 1 1 A 5 A Repeat-mediated 79d98bb0-329c-11e6-b723-b29fcc638e3d 19_43482941_TTTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 43482941 T TTG 300 PASS - Ins - 2 0 MSH6 child 19_43482941_TTTG_MSH6 2 2 - - - - Ins 79dbce40-3290-11e6-9230-fb250e01a414 3_169456027_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 169456027 CA C 480 PASS - Del - 1 8 MSH6 child 3_169456027_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 79e03022-3284-11e6-be43-0a6ea2c71c31 10_11204570_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 11204570 TG T 540 PASS CELF2 Del intronic 1 8 MSH6 child 10_11204570_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 79e07766-328a-11e6-8459-82090e01a414 12_70270255_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 70270255 GA G 420 PASS - Del - 1 9 MSH6 child 12_70270255_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 79eb63f2-3257-11e6-89d3-d29498816cf3 2_180081047_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 180081047 C CA 477 PASS SESTD1 Ins intronic 1 1 MSH6 child 2_180081047_CCA_MSH6 1 1 - - - - Ins 79f53860-326f-11e6-b89d-b2d6b0dab373 4_2090843_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 2090843 GT G 360 PASS POLN Del intronic 1 8 MSH6 child 4_2090843_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 79f66d32-326c-11e6-a740-f74aa78019ab 15_41694403_CTATC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 15 41694403 CTAT C 540 PASS NDUFAF1 Del 5prime_UTR_variant 3 3 POLM parent 15_41694403_CTATC_POLM 3 3 3 TAT 2 TAT Repeat-mediated 7a0233ba-3285-11e6-a8af-066ea2c71c31 15_72205501_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 72205501 GT G 720 PASS MYO9A Del intronic 1 7 MSH6 child 15_72205501_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7a0b68c6-3326-11e6-ba0a-ab9864f80bad 5_2777686_CCG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 5 2777686 C CG 360 PASS - Ins - 1 3 EXO1 child 5_2777686_CCG_EXO1 1 1 - - - - Ins 7a13d9fa-3256-11e6-885f-d1947872c165 4_25238976_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 25238976 TG T 300 PASS PI4K2B Del intronic 1 1 MSH6 child 4_25238976_TGT_MSH6 1 1 0 - 0 G None 7a163aa6-3328-11e6-9f5d-eba78a20d9eb 8_112825612_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 112825612 GA G 840 PASS - Del - 1 8 EXO1 child 8_112825612_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 7a19906c-3291-11e6-a366-d0257a852e0e 2_144045940_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 2 144045940 GA G 300 PASS ARHGAP15 Del intronic 1 9 CHK2 child 2_144045940_GAG_CHK2 1 1 1 A 8 A Repeat-mediated 7a1e5a1e-327a-11e6-ab1d-16d9ecf1e924 20_44570102_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 44570102 AT A 720 PASS PCIF1 Del intronic 1 8 MSH6 child 20_44570102_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 7a1f29ea-3288-11e6-b9eb-c78fa2c71c31 6_54848535_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 54848535 GA G 600 PASS - Del - 1 7 MSH6 child 6_54848535_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 7a275a56-3289-11e6-a100-84090e01a414 18_14441510_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 14441510 TA T 399 PASS - Del - 1 7 MSH6 child 18_14441510_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7a2bb2ea-327f-11e6-8a95-4ae6b41afd22 X_65197887_ATA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA X 65197887 AT A 660 PASS - Del - 1 5 POLM child X_65197887_ATA_POLM 1 1 1 T 4 T Repeat-mediated 7a2edfcc-3286-11e6-a0f6-76a56f39e758 7_15858949_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 7 15858949 TA T 660 PASS - Del - 1 1 EXO1 child 7_15858949_TAT_EXO1 1 1 0 - 0 A None 7a350728-328e-11e6-b6a6-1f1e0e01a414 4_127128383_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 127128383 CT C 480 PASS - Del - 1 8 MSH6 child 4_127128383_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7a38be48-329a-11e6-a0ea-135325c9da85 15_50022061_AAGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 50022061 AAG A 360 PASS - Del - 2 1 MSH6 child 15_50022061_AAGA_MSH6 2 2 1 A 0 - Microhomology-mediated 7a3ac982-3320-11e6-9b79-b58f0cfb5812 1_50101871_ACTA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 1 50101871 ACT A 600 PASS AGBL4 Del intronic 2 2 POLE child 1_50101871_ACTA_POLE 2 2 2 CT 1 CT Repeat-mediated 7a416452-3278-11e6-a391-f6d67d6a9fc7 6_65122793_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 65122793 TA T 420 PASS EYS Del intronic 1 9 MSH6 child 6_65122793_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7a4b8cbc-3272-11e6-8f33-a6d9cde16804 11_10760140_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 10760140 TA T 420 PASS - Del - 1 8 MSH6 child 11_10760140_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7a4bbff6-3291-11e6-9c89-8d090e01a414 1_239694098_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 239694098 C CA 540 PASS - Ins - 1 8 MSH6 child 1_239694098_CCA_MSH6 1 1 - - - - Ins 7a500d50-3277-11e6-909e-86e86de4ab00 3_4046600_TCTCCCTTATTAGAATGTAAGTAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 3 4046600 TCTCCCTTATTAGAATGTAAGTA T 480 PASS SUMF1 Del intronic 22 1 EXO1 child 3_4046600_TCTCCCTTATTAGAATGTAAGTAT_EXO1 22 >=10 2 CT 0 - Microhomology-mediated 7a5ad76a-326f-11e6-8fd5-a434cab49462 9_107762045_CTC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 9 107762045 CT C 600 PASS - Del - 1 9 POLM parent 9_107762045_CTC_POLM 1 1 1 T 8 T Repeat-mediated 7a60cbf6-3275-11e6-9ac6-2f1c25864c47 6_9132474_CAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 6 9132474 CA C 420 PASS RP11-354I10.1 Del intronic 1 5 POLB child 6_9132474_CAC_POLB 1 1 1 A 4 A Repeat-mediated 7a62ada4-329d-11e6-bc66-17b4cc638e3d 8_5596886_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 5596886 AT A 420 PASS - Del - 1 7 MSH6 child 8_5596886_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7a6ea4cc-3286-11e6-8b67-086ea2c71c31 1_186860243_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 186860243 TA T 360 PASS PLA2G4A Del intronic 1 8 MSH6 child 1_186860243_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7a6ecfb0-329a-11e6-ae71-0c5325c9da85 1_28695098_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 28695098 AT A 540 PASS PHACTR4 Del upstream 1 9 MSH6 child 1_28695098_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7a7e3cea-329d-11e6-b696-dd6225c9da85 5_26287068_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 26287068 TA T 420 PASS - Del - 1 8 MSH6 child 5_26287068_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7a86cab0-329b-11e6-ae71-0c5325c9da85 1_86118567_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 86118567 AT A 900 PASS ZNHIT6 Del 3prime_UTR_variant 1 8 MSH6 child 1_86118567_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 7a900d2c-328d-11e6-8770-3e160e01a414 9_130888643_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 130888643 TG T 300 PASS PTGES2 Del intronic 1 8 MSH6 child 9_130888643_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 7a90dcea-3290-11e6-b805-77090e01a414 2_223245200_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 223245200 C CA 300 PASS - Ins - 1 9 MSH6 child 2_223245200_CCA_MSH6 1 1 - - - - Ins 7a94fdda-328a-11e6-9c89-8d090e01a414 1_63262787_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 63262787 GA G 300 PASS ATG4C Del intronic 1 9 MSH6 child 1_63262787_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7a9cb4b6-3286-11e6-9d41-22c435cec73b 5_7643137_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 5 7643137 GA G 540 PASS ADCY2 Del intronic 1 2 POLE child 5_7643137_GAG_POLE 1 1 1 A 1 A Repeat-mediated 7a9df8e2-329c-11e6-aca6-b39fcc638e3d 2_175691623_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 175691623 CT C 600 PASS CHN1 Del intronic 1 6 MSH6 child 2_175691623_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 7aa059ce-3289-11e6-a8ac-a28ea2c71c31 3_186279287_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 186279287 TA T 480 PASS TBCCD1 Del intronic 1 6 MSH6 child 3_186279287_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 7aa1f2cc-3287-11e6-9bc8-5079a178171f 15_81745314_GTG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 15 81745314 GT G 360 PASS CTD-2034I4.1 Del intronic 1 9 FANCC child 15_81745314_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 7aa86382-328c-11e6-9892-02ba5d753391 5_175390144_CAGC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 5 175390144 CAG C 333 PASS THOC3 Del intronic 2 1 POLE child 5_175390144_CAGC_POLE 2 2 1 A 0 - Microhomology-mediated 7aa86aaa-3276-11e6-82ea-418d12ae24cf 7_36334871_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 7 36334871 CA C 300 PASS EEPD1 Del intronic 1 8 EXO1 child 7_36334871_CAC_EXO1 1 1 1 A 7 A Repeat-mediated 7ab36b64-327e-11e6-85d6-b940d5957ca3 10_65712520_ACA . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 10 65712520 AC A 300 PASS RP11-170M17.1 Del intronic 1 3 NEIL1 child 10_65712520_ACA_NEIL1 1 1 1 C 2 C Repeat-mediated 7ab512fa-328a-11e6-94b1-74090e01a414 17_60608252_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 60608252 CT C 540 PASS TLK2 Del intronic 1 9 MSH6 child 17_60608252_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7ab61390-325c-11e6-8cd9-139b7872c165 3_166024046_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 166024046 C CA 540 PASS - Ins - 1 8 MSH6 child 3_166024046_CCA_MSH6 1 1 - - - - Ins 7ab7c3f0-3272-11e6-bbeb-70bd19a91649 20_37079790_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 37079790 TG T 360 PASS SNHG11 Del downstream 1 7 MSH6 child 20_37079790_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 7abc15e2-3275-11e6-879d-c5bc6de4ab00 14_91738910_CCGTGAGAGTCG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 14 91738910 C CGTGAGAGTCG 420 PASS CCDC88C Ins 3prime_UTR_variant 10 0 POLB child 14_91738910_CCGTGAGAGTCG_POLB 10 >=10 - - - - Ins 7ad5461e-3286-11e6-afcf-0311bce6aa09 9_83571262_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 83571262 TC T 540 PASS - Del - 1 6 MSH6 child 9_83571262_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 7ad59b2a-3275-11e6-af88-fed9cde16804 3_39673210_GGACCT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 3 39673210 G GACCT 780 PASS - Ins - 4 0 NEIL1 child 3_39673210_GGACCT_NEIL1 4 4 - - - - Ins 7ad647e8-3255-11e6-ad95-79832aaffa45 15_75080775_CCTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 15 75080775 CCT C 720 PASS CSK Del intronic 2 2 POLM child 15_75080775_CCTC_POLM 2 2 2 CT 1 CT Repeat-mediated 7ae8364c-334a-11e6-8b31-52813cfdbd24 7_105469900_AAAACA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 7 105469900 AAAAC A 540 PASS ATXN7L1 Del intronic 4 3 FANCC child 7_105469900_AAAACA_FANCC 4 4 4 AAAC 2 AAAC Repeat-mediated 7af7675c-3273-11e6-83ef-69fb06e9a829 18_75287227_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 75287227 TA T 600 PASS - Del - 1 8 MSH6 child 18_75287227_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7afb947c-3272-11e6-b55a-12b538e8a824 9_113294925_GTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 9 113294925 GT G 540 PASS SVEP1 Del intronic 1 6 NUDT1 child 9_113294925_GTG_NUDT1 1 1 1 T 5 T Repeat-mediated 7b0ab2a8-3287-11e6-b32c-fd87a2c71c31 5_137553053_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 137553053 AT A 660 PASS CDC23 Del upstream 1 9 MSH6 child 5_137553053_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7b0cea2e-3254-11e6-89d3-d29498816cf3 2_103864036_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 103864036 AT A 660 PASS - Del - 1 8 MSH6 child 2_103864036_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 7b0d5872-328d-11e6-9297-a3a9cdacbbbf 10_13467736_AGAGATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 10 13467736 AGAGAT A 300 PASS - Del - 5 1 POLB child 10_13467736_AGAGATA_POLB 5 5 0 - 0 - None 7b1404f0-3270-11e6-a0a7-943dc225ee11 1_105266949_ACA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 105266949 AC A 480 PASS - Del - 1 1 EXO1 parent 1_105266949_ACA_EXO1 1 1 0 - 0 C None 7b16b748-3286-11e6-ac69-110e987b3f23 X_62972920_CCA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA X 62972920 C CA 480 PASS ARHGEF9 Ins intronic 1 6 NEIL1 parent X_62972920_CCA_NEIL1 1 1 - - - - Ins 7b177b04-328d-11e6-9c89-8d090e01a414 1_247165611_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 247165611 TA T 300 PASS ZNF695 Del intronic 1 9 MSH6 child 1_247165611_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7b1ff3d8-3274-11e6-972b-b65bfc77b11e 1_93778014_TAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 93778014 TA T 600 PASS RP4-717I23.3 Del intronic 1 8 CHK2 child 1_93778014_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 7b2a062c-3295-11e6-9993-7f46fa52e078 8_132477357_GCG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 8 132477357 GC G 300 PASS - Del - 1 3 NUDT1 child 8_132477357_GCG_NUDT1 1 1 1 C 2 C Repeat-mediated 7b2a594a-328d-11e6-bfa2-581f0e01a414 7_50167035_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 50167035 GA G 360 PASS C7orf72 Del intronic 1 9 MSH6 child 7_50167035_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7b402880-3286-11e6-901a-b6959cdf095d X_78258862_GGA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA X 78258862 G GA 900 PASS - Ins - 1 7 POLE child X_78258862_GGA_POLE 1 1 - - - - Ins 7b48e6e6-326d-11e6-b306-b5204b47a305 2_74111013_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 74111013 TA T 420 PASS - Del - 1 9 MSH6 child 2_74111013_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7b518a18-3285-11e6-8b67-086ea2c71c31 1_90111404_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 90111404 CA C 540 PASS LRRC8C Del intronic 1 5 MSH6 child 1_90111404_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 7b559d42-328a-11e6-b805-77090e01a414 2_78895113_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 78895113 CA C 360 PASS - Del - 1 8 MSH6 child 2_78895113_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 7b55a250-3286-11e6-9a94-1d822aaffa45 6_153835283_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 6 153835283 AT A 600 PASS - Del - 1 8 POLE child 6_153835283_ATA_POLE 1 1 1 T 7 T Repeat-mediated 7b56be52-3258-11e6-a304-347a7872c165 1_82506094_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 82506094 G GT 660 PASS - Ins - 1 7 MSH6 child 1_82506094_GGT_MSH6 1 1 - - - - Ins 7b5d48ba-328c-11e6-b805-77090e01a414 2_212988216_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 212988216 AT A 360 PASS ERBB4 Del intronic 1 6 MSH6 child 2_212988216_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 7b5dd154-3291-11e6-b81f-4ee66f39e758 8_124353157_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 124353157 TA T 660 PASS ATAD2 Del intronic 1 7 MSH6 child 8_124353157_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7b5e6aa2-3259-11e6-91d3-a68412ae24cf 7_67632306_TTTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 67632306 T TTA 300 PASS RP5-945F2.3 Ins intronic 2 5 MSH6 child 7_67632306_TTTA_MSH6 2 2 - - - - Ins 7b64816a-326f-11e6-a576-d8f3eab8d062 17_33532716_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 17 33532716 CT C 360 PASS - Del - 1 8 NUDT1 child 17_33532716_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 7b6daaa2-3273-11e6-83ef-69fb06e9a829 18_75413710_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 75413710 AG A 480 PASS - Del - 1 1 MSH6 child 18_75413710_AGA_MSH6 1 1 0 - 0 G None 7b74a8ea-3253-11e6-89d3-d29498816cf3 2_1091201_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 1091201 AT A 540 PASS SNTG2 Del intronic 1 7 MSH6 child 2_1091201_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7b74c638-328d-11e6-b9c4-751d0e01a414 5_79087178_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 79087178 GA G 420 PASS CMYA5 Del intronic 1 7 MSH6 child 5_79087178_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 7b74cb2a-3273-11e6-a390-fc104530f757 1_185852859_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 185852859 AT A 540 PASS HMCN1 Del intronic 1 4 FANCC child 1_185852859_ATA_FANCC 1 1 1 T 3 T Repeat-mediated 7b7e4cbc-3288-11e6-8b67-086ea2c71c31 1_107958935_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 107958935 G GA 420 PASS NTNG1 Ins intronic 1 9 MSH6 child 1_107958935_GGA_MSH6 1 1 - - - - Ins 7b83a98e-3286-11e6-8b67-086ea2c71c31 1_187374590_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 187374590 GA G 300 PASS - Del - 1 7 MSH6 child 1_187374590_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 7b885c54-3286-11e6-9317-6ba56f39e758 8_14976240_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 14976240 GA G 360 PASS SGCZ Del intronic 1 9 EXO1 child 8_14976240_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 7b88966c-3289-11e6-b9eb-c78fa2c71c31 6_162345774_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 162345774 TA T 360 PASS PARK2 Del intronic 1 8 MSH6 child 6_162345774_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7b96b894-3286-11e6-a5b3-3f1ebce6aa09 7_4612045_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 4612045 GA G 360 PASS - Del - 1 4 MSH6 child 7_4612045_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 7b96be82-3279-11e6-8026-e974e7d0bdd7 2_69824851_AATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 2 69824851 AAT A 300 PASS AAK1 Del intronic 2 1 FANCC parent 2_69824851_AATA_FANCC 2 2 0 - 0 - None 7b96fe12-3254-11e6-81f9-42f212ae24cf 17_46383242_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 46383242 CA C 420 PASS SKAP1 Del intronic 1 9 MSH6 child 17_46383242_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 7b9d1812-3289-11e6-a32d-75090e01a414 14_33173892_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 33173892 TA T 480 PASS AKAP6 Del intronic 1 7 MSH6 child 14_33173892_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7b9da18e-3256-11e6-9d5a-0c8112ae24cf 9_44213842_TAAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 44213842 TAA T 276 PASS - Del - 2 3 MSH6 child 9_44213842_TAAT_MSH6 2 2 1 A 0 - Microhomology-mediated 7ba4e6e4-329f-11e6-91d0-016425c9da85 7_119378165_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 119378165 GA G 420 PASS RP11-328J2.1 Del intronic 1 8 MSH6 child 7_119378165_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 7ba8a570-3328-11e6-8247-7bd4cde16804 20_20293841_ATCA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 20 20293841 ATC A 660 PASS C20orf26 Del intronic 2 5 EXO1 child 20_20293841_ATCA_EXO1 2 2 2 TC 4 TC Repeat-mediated 7bad19f4-3272-11e6-83ef-69fb06e9a829 18_4650885_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 4650885 GA G 271 PASS - Del - 1 7 MSH6 child 18_4650885_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 7bb23828-3270-11e6-bfba-13bf4a47a305 9_38587376_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 38587376 A AT 334 PASS ANKRD18A Ins intronic 1 6 MSH6 child 9_38587376_AAT_MSH6 1 1 - - - - Ins 7bb5c824-329a-11e6-8069-175325c9da85 12_38252903_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 38252903 GT G 960 PASS - Del - 1 5 MSH6 child 12_38252903_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 7bbaf786-328b-11e6-a7cf-80090e01a414 15_85391135_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 85391135 CA C 300 PASS ALPK3 Del intronic 1 8 MSH6 child 15_85391135_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 7bbafbf4-3287-11e6-a5b3-3f1ebce6aa09 7_97154677_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 97154677 CT C 540 PASS - Del - 1 9 MSH6 child 7_97154677_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7bc232ba-328d-11e6-b6a6-1f1e0e01a414 4_61816878_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 61816878 TG T 300 PASS - Del - 1 1 MSH6 child 4_61816878_TGT_MSH6 1 1 0 - 0 G None 7bcc0714-3291-11e6-b77d-2eef6f39e758 6_67005162_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 67005162 AT A 300 PASS - Del - 1 7 MSH6 child 6_67005162_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7bd1ae1c-3287-11e6-9546-b5936f39e758 15_70862663_CCA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 70862663 C CA 540 PASS - Ins - 1 5 EXO1 child 15_70862663_CCA_EXO1 1 1 - - - - Ins 7bd46efa-326d-11e6-92dd-fda8977b3f23 10_72094948_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 72094948 GA G 720 PASS LRRC20 Del intronic 1 5 MSH6 child 10_72094948_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 7bd5df7a-328f-11e6-9297-a3a9cdacbbbf 10_72361596_AAAAAAAAAAAGAGAAAGAAAAAAAAG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 10 72361596 A AAAAAAAAAAGAGAAAGAAAAAAAAG 300 PASS PRF1 Ins intronic 25 0 POLB child 10_72361596_AAAAAAAAAAAGAGAAAGAAAAAAAAG_POLB 25 >=10 - - - - Ins 7bd9a6d0-3255-11e6-8fbd-68832aaffa45 12_102992376_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 12 102992376 AT A 300 PASS - Del - 1 9 POLM child 12_102992376_ATA_POLM 1 1 1 T 8 T Repeat-mediated 7be1205a-3272-11e6-abaf-4642cab49462 6_57658590_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 57658590 AT A 360 PASS - Del - 1 9 MSH6 child 6_57658590_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7bfc3710-3276-11e6-b48f-cc371daa6045 9_83181143_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 9 83181143 AT A 780 PASS - Del - 1 3 EXO1 child 9_83181143_ATA_EXO1 1 1 1 T 2 T Repeat-mediated 7bfcf424-3272-11e6-8f10-bfc27872c165 4_86685271_CAATC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 86685271 CAAT C 540 PASS ARHGAP24 Del intronic 3 1 EXO1 parent 4_86685271_CAATC_EXO1 3 3 0 - 0 - None 7c0655b2-32a1-11e6-a04f-c66a25c9da85 6_143366114_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 143366114 AT A 780 PASS - Del - 1 8 MSH6 child 6_143366114_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 7c071204-326f-11e6-9309-bdc34a47a305 8_22155058_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 22155058 TA T 600 PASS PIWIL2 Del intronic 1 9 MSH6 child 8_22155058_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7c082342-3323-11e6-b456-3b4d07e9a829 8_20637529_CAC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 8 20637529 CA C 540 PASS - Del - 1 7 POLE child 8_20637529_CAC_POLE 1 1 1 A 6 A Repeat-mediated 7c154dfe-3271-11e6-b5b8-e0c24a47a305 X_149345264_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 149345264 CT C 360 PASS - Del - 1 9 MSH6 child X_149345264_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7c216a30-3285-11e6-8b67-086ea2c71c31 1_90301734_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 90301734 AT A 660 PASS LRRC8D Del intronic 1 9 MSH6 child 1_90301734_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7c28873c-325a-11e6-885f-d1947872c165 4_113503616_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 113503616 C CT 480 PASS C4orf21 Ins intronic 1 8 MSH6 child 4_113503616_CCT_MSH6 1 1 - - - - Ins 7c330c78-3275-11e6-a924-afbd7d6a9fc7 2_181741146_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 181741146 CA C 420 PASS - Del - 1 7 EXO1 child 2_181741146_CAC_EXO1 1 1 1 A 6 A Repeat-mediated 7c346c12-3324-11e6-8ba1-c7a030158702 21_47142423_GTG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 21 47142423 GT G 360 PASS PCBP3 Del intronic 1 9 POLE child 21_47142423_GTG_POLE 1 1 1 T 8 T Repeat-mediated 7c36c996-3282-11e6-906b-a52236fc2f7d 15_91884100_GAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 15 91884100 GA G 540 PASS - Del - 1 7 NUDT1 child 15_91884100_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 7c3addd8-3273-11e6-af89-7600ebb8d062 5_151900179_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 5 151900179 TA T 360 PASS - Del - 1 7 NUDT1 child 5_151900179_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated 7c3c0f2a-3258-11e6-aed0-182fee3c4f5d 20_43574371_TGAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 20 43574371 TGA T 480 PASS TOMM34 Del intronic 2 3 POLB child 20_43574371_TGAT_POLB 2 2 2 GA 2 GA Repeat-mediated 7c46579a-326d-11e6-adc2-b7204b47a305 18_73795697_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 73795697 CA C 300 PASS - Del - 1 8 MSH6 child 18_73795697_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 7c494244-3276-11e6-92d2-c259c225ee11 3_11560519_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 11560519 AT A 300 PASS ATG7 Del intronic 1 7 MSH6 child 3_11560519_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7c4c1382-3287-11e6-b611-f56e3adbad45 11_60293985_AATGA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 11 60293985 AATG A 660 PASS MS4A13 Del intronic 3 1 NUDT1 parent 11_60293985_AATGA_NUDT1 3 3 2 AT 0 - Microhomology-mediated 7c5223e0-3286-11e6-afcf-0311bce6aa09 9_84175845_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 84175845 GA G 720 PASS - Del - 1 8 MSH6 child 9_84175845_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 7c52c2e2-328f-11e6-8f31-bfe16f39e758 9_125561985_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 125561985 TA T 600 PASS OR1K1 Del upstream 1 6 MSH6 child 9_125561985_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 7c5fcb72-328a-11e6-bbaf-7c090e01a414 19_44314795_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 44314795 CT C 300 PASS LYPD5 Del intronic 1 8 MSH6 child 19_44314795_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7c6077fc-3271-11e6-acc7-e55219a91649 1_191198999_TTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 191198999 T TC 300 PASS RP11-309H21.2 Ins upstream 1 1 MSH6 child 1_191198999_TTC_MSH6 1 1 - - - - Ins 7c61ead6-3278-11e6-92d2-c259c225ee11 3_158091385_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 158091385 CT C 600 PASS RSRC1 Del intronic 1 8 MSH6 child 3_158091385_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7c6ebc64-3284-11e6-9f3c-743e51c54cdd 15_46745399_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 15 46745399 AT A 420 PASS - Del - 1 7 EXO1 child 15_46745399_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 7c6fddb4-3325-11e6-98e4-0c20d8fd0a58 X_127711599_CAC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA X 127711599 CA C 540 PASS RP1-30E17.2 Del intronic 1 8 CHK2 parent X_127711599_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 7c71d018-3296-11e6-a5e0-15ac3adbad45 1_165069580_AATGTAGTAAG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 1 165069580 A ATGTAGTAAG 360 PASS - Ins - 9 0 NEIL1 child 1_165069580_AATGTAGTAAG_NEIL1 9 9 - - - - Ins 7c73e740-3278-11e6-a391-f6d67d6a9fc7 6_65953506_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 65953506 CT C 480 PASS EYS Del intronic 1 7 MSH6 child 6_65953506_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 7c765af2-3291-11e6-a366-d0257a852e0e 2_144581353_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 2 144581353 CT C 420 PASS AC079584.2 Del downstream 1 9 CHK2 child 2_144581353_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 7c7e088c-326f-11e6-b4bf-85eb97ba1142 2_41314081_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 41314081 AT A 420 PASS - Del - 1 8 EXO1 parent 2_41314081_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 7c85f7ba-3286-11e6-be43-0a6ea2c71c31 10_38296583_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 38296583 A AT 812 PASS ZNF33A Ins upstream 1 1 MSH6 child 10_38296583_AAT_MSH6 1 1 - - - - Ins 7c9441b2-3259-11e6-885f-d1947872c165 4_37193698_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 37193698 G GA 689 PASS - Ins - 1 6 MSH6 child 4_37193698_GGA_MSH6 1 1 - - - - Ins 7c95bc72-326d-11e6-b306-b5204b47a305 2_74382164_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 74382164 TA T 360 PASS MOB1A Del 3prime_UTR_variant 1 9 MSH6 child 2_74382164_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7c96806c-3286-11e6-a8af-066ea2c71c31 15_38312371_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 38312371 A AT 360 PASS RP11-1008C21.1 Ins intronic 1 7 MSH6 child 15_38312371_AAT_MSH6 1 1 - - - - Ins 7c9db11e-3274-11e6-b375-e026147bb207 21_10959553_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 21 10959553 AT A 207 PASS TPTE Del intronic 1 9 MSH6 parent 21_10959553_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7c9fa0ba-3273-11e6-975f-8246cab49462 16_67080295_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 67080295 AT A 480 PASS CBFB Del intronic 1 9 MSH6 child 16_67080295_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7ca3e330-3284-11e6-8b67-086ea2c71c31 1_12355716_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 12355716 CA C 480 PASS VPS13D Del intronic 1 8 MSH6 child 1_12355716_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 7ca91746-329e-11e6-b696-dd6225c9da85 5_87779369_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 87779369 GA G 660 PASS CTC-498M16.4 Del intronic 1 8 MSH6 child 5_87779369_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 7cad9d10-328b-11e6-a7cf-80090e01a414 15_85428661_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 85428661 GA G 660 PASS SLC28A1 Del intronic 1 9 MSH6 child 15_85428661_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7caebd9c-3328-11e6-81bd-c0e680635058 20_37423693_TCTCT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 20 37423693 TCTC T 420 PASS - Del - 3 2 CHK2 child 20_37423693_TCTCT_CHK2 3 3 3 CTC 1 CTC Repeat-mediated 7cc2355a-329e-11e6-8c2e-3f6625c9da85 22_32133466_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 32133466 CA C 540 PASS PRR14L Del intronic 1 8 MSH6 child 22_32133466_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 7cc4e2d6-3286-11e6-afcf-0311bce6aa09 9_84294420_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 84294420 GA G 600 PASS TLE1 Del intronic 1 8 MSH6 child 9_84294420_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 7ccc9a4e-3259-11e6-8cd9-139b7872c165 3_152921221_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 152921221 CT C 360 PASS - Del - 1 8 MSH6 child 3_152921221_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7cd22144-327c-11e6-9cfc-ec8590e2c2e6 1_20766158_TGAAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 1 20766158 TGAA T 780 PASS - Del - 3 4 NUDT1 child 1_20766158_TGAAT_NUDT1 3 3 3 GAA 3 GAA Repeat-mediated 7cd59c62-328f-11e6-8f31-bfe16f39e758 9_125645269_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 125645269 GA G 420 PASS RC3H2 Del intronic 1 1 MSH6 child 9_125645269_GAG_MSH6 1 1 0 - 0 A None 7cda1b16-3285-11e6-8b67-086ea2c71c31 1_90539996_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 90539996 CA C 540 PASS - Del - 1 7 MSH6 child 1_90539996_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 7cdd5546-3277-11e6-a71d-236235cec73b X_118444330_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 118444330 CT C 420 PASS RP5-1139I1.1 Del intronic 1 8 MSH6 child X_118444330_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7ce6746e-3277-11e6-a391-f6d67d6a9fc7 6_4678542_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 4678542 AT A 300 PASS - Del - 1 9 MSH6 child 6_4678542_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7cf3d2c0-3278-11e6-92d2-c259c225ee11 3_158273934_GCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 158273934 GC G 480 PASS - Del - 1 7 MSH6 child 3_158273934_GCG_MSH6 1 1 1 C 6 C Repeat-mediated 7cf525c0-3292-11e6-9230-fb250e01a414 3_98812666_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 98812666 T TA 480 PASS - Ins - 1 8 MSH6 child 3_98812666_TTA_MSH6 1 1 - - - - Ins 7cf59a2e-328c-11e6-bba4-c0bdcc638e3d 9_122508555_CAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 9 122508555 CA C 329 PASS - Del - 1 9 NUDT1 child 9_122508555_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated 7cf87534-3253-11e6-b895-bae612ae24cf 2_140733640_GATG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 2 140733640 GAT G 420 PASS - Del - 2 5 POLB child 2_140733640_GATG_POLB 2 2 2 AT 4 AT Repeat-mediated 7d057238-329a-11e6-b74d-b59fcc638e3d 18_43823052_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 43823052 AT A 600 PASS C18orf25 Del intronic 1 9 MSH6 child 18_43823052_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7d0c9f64-328a-11e6-821d-8c090e01a414 13_95184198_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 95184198 GA G 300 PASS - Del - 1 9 MSH6 child 13_95184198_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7d22ed26-3322-11e6-9b97-aa021daa6045 19_11721247_TCT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 19 11721247 TC T 780 PASS ZNF627 Del intronic 1 2 EXO1 child 19_11721247_TCT_EXO1 1 1 1 C 1 C Repeat-mediated 7d2eaa9e-328c-11e6-bec1-ca1d0e01a414 X_11973704_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 11973704 CA C 780 PASS - Del - 1 7 MSH6 child X_11973704_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 7d32e3e4-3281-11e6-a6ac-c98169062303 17_65852428_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 17 65852428 TA T 297 PASS BPTF Del intronic 1 8 FANCC child 17_65852428_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 7d370416-329e-11e6-a5cf-e5abcc638e3d 9_10831120_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 10831120 C CA 600 PASS - Ins - 1 4 MSH6 child 9_10831120_CCA_MSH6 1 1 - - - - Ins 7d3e0698-326d-11e6-9793-9a8fb0dab373 13_81830548_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 81830548 AT A 420 PASS RP11-452B18.2 Del intronic 1 6 MSH6 child 13_81830548_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 7d4273a0-328a-11e6-aff5-85090e01a414 16_68822376_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 68822376 CT C 300 PASS CDH1 Del intronic 1 5 MSH6 child 16_68822376_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 7d484bec-326f-11e6-b9a6-d04066a58581 15_41976372_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 15 41976372 AT A 540 PASS MGA Del intronic 1 1 EXO1 parent 15_41976372_ATA_EXO1 1 1 0 - 0 T None 7d5093a8-3254-11e6-9f9d-2c7a7872c165 12_63121780_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 63121780 TA T 780 PASS PPM1H Del intronic 1 9 MSH6 child 12_63121780_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7d525a1c-329f-11e6-aea7-956725c9da85 3_61940961_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 61940961 CT C 720 PASS PTPRG Del intronic 1 9 MSH6 child 3_61940961_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7d5f7762-3284-11e6-99f7-076ea2c71c31 12_10693843_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 10693843 TA T 540 PASS - Del - 1 9 MSH6 child 12_10693843_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7d5f9738-328e-11e6-8490-d04c1087d53a 2_221590696_GAG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 2 221590696 GA G 720 PASS - Del - 1 7 POLE child 2_221590696_GAG_POLE 1 1 1 A 6 A Repeat-mediated 7d6131e6-328a-11e6-821d-8c090e01a414 13_95278149_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 95278149 AT A 600 PASS GPR180 Del intronic 1 7 MSH6 child 13_95278149_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7d61ecda-3271-11e6-b439-e34b3cfdbd24 2_32288376_TGAGAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 32288376 TGAGA T 960 PASS SPAST Del upstream 4 3 MSH6 parent 2_32288376_TGAGAT_MSH6 4 4 3 GAG 0 - Microhomology-mediated 7d65626c-329d-11e6-a5cf-e5abcc638e3d 9_98777634_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 98777634 AT A 540 PASS ERCC6L2 Del downstream 1 7 MSH6 child 9_98777634_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7d6b05e6-3289-11e6-b805-77090e01a414 2_21091121_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 21091121 CT C 360 PASS - Del - 1 8 MSH6 child 2_21091121_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7d6c25fa-3290-11e6-9401-04ed6f39e758 3_35349625_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 35349625 GA G 540 PASS - Del - 1 5 MSH6 child 3_35349625_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 7d70c6ce-3294-11e6-84ea-9945fa52e078 7_94300843_AAGA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 7 94300843 AAG A 420 PASS PEG10 Del downstream 2 4 NUDT1 child 7_94300843_AAGA_NUDT1 2 2 2 AG 3 AG Repeat-mediated 7d75f3be-3277-11e6-92d2-c259c225ee11 3_81681294_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 81681294 CT C 660 PASS GBE1 Del intronic 1 7 MSH6 child 3_81681294_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 7d7cf37c-328a-11e6-a80b-87090e01a414 11_74012175_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 74012175 GT G 300 PASS P4HA3 Del intronic 1 9 MSH6 child 11_74012175_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 7d89d86a-3273-11e6-b89d-b2d6b0dab373 4_69123451_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 69123451 A AT 420 PASS - Ins - 1 4 MSH6 child 4_69123451_AAT_MSH6 1 1 - - - - Ins 7d8bd034-328c-11e6-b43c-7ec36f39e758 16_57772867_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 57772867 TG T 360 PASS KATNB1 Del intronic 1 6 MSH6 child 16_57772867_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 7d92a280-328a-11e6-b805-77090e01a414 2_79603946_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 79603946 AT A 480 PASS CTNNA2 Del intronic 1 6 MSH6 child 2_79603946_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 7d960798-326e-11e6-acc7-e55219a91649 1_174258092_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 174258092 AT A 660 PASS RABGAP1L Del intronic 1 6 MSH6 child 1_174258092_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 7d9b21fe-3275-11e6-acf7-070eebb8d062 6_136573371_TGAGT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 6 136573371 TGAG T 600 PASS BCLAF1 Del downstream 3 2 NUDT1 child 6_136573371_TGAGT_NUDT1 3 3 3 GAG 1 GAG Repeat-mediated 7d9fa580-3270-11e6-b89d-b2d6b0dab373 4_65363241_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 65363241 CT C 360 PASS - Del - 1 9 MSH6 child 4_65363241_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7da1f182-3257-11e6-aa0b-72f912ae24cf 8_129743145_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 129743145 TA T 540 PASS - Del - 1 1 POLB child 8_129743145_TAT_POLB 1 1 0 - 0 A None 7da2da0e-3291-11e6-99d8-a1aee7d0bdd7 8_120120451_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 120120451 CT C 420 PASS COLEC10 Del downstream 1 2 FANCC child 8_120120451_CTC_FANCC 1 1 1 T 1 T Repeat-mediated 7dace808-329d-11e6-bc2c-2a5e25c9da85 4_39723747_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 39723747 TA T 840 PASS UBE2K Del intronic 1 8 MSH6 child 4_39723747_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7dafccd4-3271-11e6-8418-1c5942c4520d 3_145335996_ATGACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 145335996 ATGAC A 600 PASS - Del - 4 1 MSH6 child 3_145335996_ATGACA_MSH6 4 4 3 TGA 0 - Microhomology-mediated 7dc36644-329a-11e6-b74d-b59fcc638e3d 18_44025037_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 44025037 AT A 540 PASS RNF165 Del intronic 1 7 MSH6 child 18_44025037_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 7dcbe4be-328a-11e6-afaf-7f6251c54cdd 6_136712969_CATAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 6 136712969 CATA C 260 PASS MAP7 Del intronic 3 2 EXO1 child 6_136712969_CATAC_EXO1 3 3 3 ATA 1 ATA Repeat-mediated 7dcc8848-3252-11e6-b4e1-b8e612ae24cf 18_75810243_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 18 75810243 TA T 600 PASS - Del - 1 5 POLB child 18_75810243_TAT_POLB 1 1 1 A 4 A Repeat-mediated 7de1926a-3257-11e6-885f-d1947872c165 4_94732119_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 94732119 CT C 360 PASS - Del - 1 8 MSH6 child 4_94732119_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7de92f66-3284-11e6-97d5-6cf1bbe6aa09 17_9528013_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 9528013 CT C 300 PASS WDR16 Del intronic 1 8 MSH6 child 17_9528013_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7dec0cee-3271-11e6-b5b8-e0c24a47a305 X_150034761_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 150034761 CA C 300 PASS CD99L2 Del intronic 1 9 MSH6 child X_150034761_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 7df5df22-3289-11e6-821d-8c090e01a414 13_31375061_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 31375061 CT C 540 PASS LINC00398 Del upstream 1 9 MSH6 child 13_31375061_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7dfa911c-3292-11e6-abf5-7bdad8b4fa2c 17_73987916_TCAGGAGTTCGAGACCAGCCTAGCCAACATGGCGAAACCCCATCCCTACTAAAAGTACAAAACTTAGCTGGGCGTGGTGGT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 17 73987916 TCAGGAGTTCGAGACCAGCCTAGCCAACATGGCGAAACCCCATCCCTACTAAAAGTACAAAACTTAGCTGGGCGTGGTGG T 360 PASS TEN1 Del intronic 79 1 NUDT1 child 17_73987916_TCAGGAGTTCGAGACCAGCCTAGCCAACATGGCGAAACCCCATCCCTACTAAAAGTACAAAACTTAGCTGGGCGTGGTGGT_NUDT1 79 >=10 2 CA 0 - Microhomology-mediated 7dfb4c3a-3272-11e6-9522-b51a987b3f23 12_57300070_GTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 12 57300070 GT G 300 PASS - Del - 1 4 NUDT1 child 12_57300070_GTG_NUDT1 1 1 1 T 3 T Repeat-mediated 7e039cd4-3284-11e6-99f7-076ea2c71c31 12_10914619_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 10914619 GT G 540 PASS RP13-81N3.2 Del intronic 1 7 MSH6 child 12_10914619_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7e08d1b0-328c-11e6-8256-94c36f39e758 17_46918189_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 46918189 GA G 420 PASS CALCOCO2 Del intronic 1 9 MSH6 child 17_46918189_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7e1e8a8c-329b-11e6-b129-195325c9da85 16_74997149_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 74997149 CA C 720 PASS WDR59 Del intronic 1 9 MSH6 child 16_74997149_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 7e259bfe-3284-11e6-94be-6cfa4430f757 12_45882949_ATATTA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 45882949 ATATT A 840 PASS RP11-352M15.1 Del intronic 4 1 EXO1 child 12_45882949_ATATTA_EXO1 4 4 1 T 0 - Microhomology-mediated 7e2a5c28-3277-11e6-8c34-46e27872c165 5_150453778_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 150453778 AT A 540 PASS TNIP1 Del intronic 1 8 MSH6 child 5_150453778_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 7e33c816-328c-11e6-ac7a-a3c36f39e758 18_64682295_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 64682295 GA G 660 PASS - Del - 1 6 MSH6 child 18_64682295_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 7e36bb3e-3273-11e6-aa3b-ca60a178171f 13_94735361_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 94735361 GT G 720 PASS GPC6 Del intronic 1 7 MSH6 child 13_94735361_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7e430d72-329a-11e6-aca6-b39fcc638e3d 2_48966952_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 48966952 TA T 594 PASS STON1-GTF2A1L Del intronic 1 9 MSH6 child 2_48966952_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 7e50a10a-3270-11e6-aa37-4a68a78019ab 6_1750114_GTAGTGCCGTGGCATGATCGTAGCTCACTGCAGCCTTGAACTCCTGGACTCAAGTGATCCTCCAGCTTCAGCCTTCCAAGTAGATGGGACTACAGGCATGCATCACCACACTTGGCTAATGCTTTTAATTTTTAGTATACAAAAATACTAAAAATGTATGTATGGGCTACATTGTTCCTGGCCTCAAGAAATCTTCCTGCCTTGGCCTCCCAAAGGGCTGGGACTAAAGGACTGAGCCACCAGCCTCAAATTATTAATACCTCATATTTCAAGTTGTGTCCAATTTCATTGTTATAATGAAGCAGAAGTTTCCTCTTAACTTTATTATTTTTCTTGATTTCAGAGGGTTTCAAAAAAAGGAGTGTTGAATGAAAATGTCCTTATATTTAGTCATTTAAAAATATATTTCTTGAAGATGGCTGAATAGGAACAGCTCCACTCTGGAGCTGCCAGTGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCAG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 6 1750114 GTAGTGCCGTGGCATGATCGTAGCTCACTGCAGCCTTGAACTCCTGGACTCAAGTGATCCTCCAGCTTCAGCCTTCCAAGTAGATGGGACTACAGGCATGCATCACCACACTTGGCTAATGCTTTTAATTTTTAGTATACAAAAATACTAAAAATGTATGTATGGGCTACATTGTTCCTGGCCTCAAGAAATCTTCCTGCCTTGGCCTCCCAAAGGGCTGGGACTAAAGGACTGAGCCACCAGCCTCAAATTATTAATACCTCATATTTCAAGTTGTGTCCAATTTCATTGTTATAATGAAGCAGAAGTTTCCTCTTAACTTTATTATTTTTCTTGATTTCAGAGGGTTTCAAAAAAAGGAGTGTTGAATGAAAATGTCCTTATATTTAGTCATTTAAAAATATATTTCTTGAAGATGGCTGAATAGGAACAGCTCCACTCTGGAGCTGCCAGTGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCA G 600 PASS GMDS Del intronic 509 1 POLM parent 6_1750114_GTAGTGCCGTGGCATGATCGTAGCTCACTGCAGCCTTGAACTCCTGGACTCAAGTGATCCTCCAGCTTCAGCCTTCCAAGTAGATGGGACTACAGGCATGCATCACCACACTTGGCTAATGCTTTTAATTTTTAGTATACAAAAATACTAAAAATGTATGTATGGGCTACATTGTTCCTGGCCTCAAGAAATCTTCCTGCCTTGGCCTCCCAAAGGGCTGGGACTAAAGGACTGAGCCACCAGCCTCAAATTATTAATACCTCATATTTCAAGTTGTGTCCAATTTCATTGTTATAATGAAGCAGAAGTTTCCTCTTAACTTTATTATTTTTCTTGATTTCAGAGGGTTTCAAAAAAAGGAGTGTTGAATGAAAATGTCCTTATATTTAGTCATTTAAAAATATATTTCTTGAAGATGGCTGAATAGGAACAGCTCCACTCTGGAGCTGCCAGTGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCAG_POLM 509 >=10 1 T 0 - Microhomology-mediated 7e5d8bd8-328c-11e6-8eed-44ee5d753391 6_9498278_TAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 6 9498278 TA T 480 PASS - Del - 1 1 POLE child 6_9498278_TAT_POLE 1 1 0 - 0 A None 7e5dfa6c-3289-11e6-a5b3-3f1ebce6aa09 7_134022850_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 134022850 C CA 540 PASS - Ins - 1 8 MSH6 child 7_134022850_CCA_MSH6 1 1 - - - - Ins 7e60ca14-3291-11e6-bb4c-05a29b6d3b88 3_78964835_GTG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 3 78964835 GT G 300 PASS ROBO1 Del intronic 1 8 POLB child 3_78964835_GTG_POLB 1 1 1 T 7 T Repeat-mediated 7e67aab6-328f-11e6-9432-c0e56f39e758 5_61226988_GTTAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 61226988 GTTA G 540 PASS - Del - 3 6 MSH6 child 5_61226988_GTTAG_MSH6 3 3 3 TTA 5 TTA Repeat-mediated 7e6a6d94-3255-11e6-89d3-d29498816cf3 2_211274853_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 211274853 CT C 660 PASS - Del - 1 9 MSH6 child 2_211274853_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7e70040e-328f-11e6-8e48-791e0e01a414 8_130816409_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 130816409 GA G 420 PASS - Del - 1 8 MSH6 child 8_130816409_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 7e775af0-329a-11e6-b549-1e5325c9da85 10_35492313_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 35492313 CT C 360 PASS CREM Del intronic 1 7 MSH6 child 10_35492313_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 7e77fa92-3285-11e6-ac69-110e987b3f23 X_115833065_ATGA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA X 115833065 ATG A 300 PASS RP11-232D9.3 Del upstream 2 6 NEIL1 parent X_115833065_ATGA_NEIL1 2 2 2 TG 5 TG Repeat-mediated 7e7aeb96-329c-11e6-a5cf-e5abcc638e3d 9_17437815_ATGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 17437815 ATG A 840 PASS CNTLN Del intronic 2 6 MSH6 child 9_17437815_ATGA_MSH6 2 2 2 TG 5 TG Repeat-mediated 7e824770-328c-11e6-a75f-859bcdacbbbf 9_103509504_AAGT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 9 103509504 A AGT 600 PASS - Ins - 2 0 FANCC child 9_103509504_AAGT_FANCC 2 2 - - - - Ins 7e846ce0-3281-11e6-9d06-ad2236fc2f7d 16_54706719_GAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 16 54706719 GA G 360 PASS - Del - 1 8 NUDT1 child 16_54706719_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated 7e8550d4-3276-11e6-92d2-c259c225ee11 3_11954467_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 11954467 AT A 344 PASS - Del - 1 6 MSH6 child 3_11954467_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 7e8c730a-3271-11e6-abaf-4642cab49462 6_2652505_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 2652505 CA C 540 PASS - Del - 1 9 MSH6 child 6_2652505_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 7e8f4d20-3279-11e6-92d2-c259c225ee11 3_24243160_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 24243160 G GA 300 PASS THRB Ins intronic 1 2 MSH6 child 3_24243160_GGA_MSH6 1 1 - - - - Ins 7e971ee4-3272-11e6-bfb2-2749c225ee11 12_10421752_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 10421752 CT C 540 PASS KLRD1 Del intronic 1 9 MSH6 child 12_10421752_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7e9d8bf8-3286-11e6-b32c-fd87a2c71c31 5_27832594_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 27832594 GA G 600 PASS - Del - 1 7 MSH6 child 5_27832594_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 7e9d91ba-3282-11e6-b652-59be9b6d3b88 1_197726117_TTAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 1 197726117 TTA T 600 PASS DENND1B Del intronic 2 7 POLE child 1_197726117_TTAT_POLE 2 2 2 TA 6 TA Repeat-mediated 7e9ed87e-3258-11e6-8340-da9012ae24cf 6_4148936_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 4148936 CT C 474 PASS RP3-400B16.1 Del intronic 1 9 MSH6 child 6_4148936_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 7eadcddc-328c-11e6-b68c-9fa420e7b7a8 8_66639827_CATC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 8 66639827 CAT C 540 PASS PDE7A Del intronic 2 1 POLE child 8_66639827_CATC_POLE 2 2 1 A 0 - Microhomology-mediated 7ebc06be-3277-11e6-b7b5-ce91a78019ab 5_61176151_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 61176151 AT A 540 PASS CTD-2244C20.2 Del intronic 1 8 NEIL1 child 5_61176151_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 7ed37644-3288-11e6-8404-8e1fbce6aa09 8_134318935_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 134318935 CT C 660 PASS - Del - 1 8 MSH6 child 8_134318935_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 7ede9756-3281-11e6-b9fb-4420bce6aa09 9_82083358_GTG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 9 82083358 GT G 600 PASS - Del - 1 4 POLM child 9_82083358_GTG_POLM 1 1 1 T 3 T Repeat-mediated 7ee0b616-3282-11e6-845d-6b29bce6aa09 X_77620576_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA X 77620576 AT A 720 PASS - Del - 1 9 POLM child X_77620576_ATA_POLM 1 1 1 T 8 T Repeat-mediated 7ee148ba-3322-11e6-894d-4bcc12ae24cf 11_123896358_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 11 123896358 TA T 780 PASS OR10G8 Del upstream 1 5 EXO1 child 11_123896358_TAT_EXO1 1 1 1 A 4 A Repeat-mediated 7ee48210-3277-11e6-82ea-418d12ae24cf 7_101353660_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 7 101353660 TA T 300 PASS - Del - 1 7 EXO1 child 7_101353660_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 7eed21c2-3277-11e6-92d2-c259c225ee11 3_82244552_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 82244552 GA G 600 PASS RP11-260O18.1 Del intronic 1 9 MSH6 child 3_82244552_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7ef70d30-3255-11e6-89d3-d29498816cf3 2_211565933_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 211565933 AT A 540 PASS - Del - 1 9 MSH6 child 2_211565933_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7ef8ad4e-3272-11e6-abaf-4642cab49462 6_58507826_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 58507826 AT A 616 PASS RP11-143A22.1 Del intronic 1 9 MSH6 child 6_58507826_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7efa8774-3289-11e6-b611-f56e3adbad45 11_122997818_CCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 11 122997818 C CT 600 PASS CLMP Ins intronic 1 8 NUDT1 parent 11_122997818_CCT_NUDT1 1 1 - - - - Ins 7f071322-329d-11e6-94ca-0aaecc638e3d X_47500595_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 47500595 AG A 720 PASS ELK1 Del intronic 1 8 MSH6 child X_47500595_AGA_MSH6 1 1 1 G 7 G Repeat-mediated 7f079408-3290-11e6-8ca9-847019a91649 9_26160410_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 9 26160410 CA C 420 PASS - Del - 1 7 NEIL1 child 9_26160410_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated 7f11d09e-3272-11e6-a862-bc9becf1e924 1_14234326_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 14234326 AT A 420 PASS - Del - 1 8 MSH6 child 1_14234326_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 7f1dd166-32a2-11e6-b970-398625c9da85 20_7718398_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 7718398 AT A 480 PASS - Del - 1 6 MSH6 child 20_7718398_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 7f22e672-3326-11e6-9459-771c630e6611 4_4969872_AAG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 4 4969872 A AG 480 PASS - Ins - 1 2 CHK2 child 4_4969872_AAG_CHK2 1 1 - - - - Ins 7f230af6-3288-11e6-ba61-6079a178171f 2_189619297_TAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 189619297 TA T 300 PASS DIRC1 Del intronic 1 3 FANCC child 2_189619297_TAT_FANCC 1 1 1 A 2 A Repeat-mediated 7f28edda-3289-11e6-84d3-e3cd191589db 15_47252348_TATAGCATTCT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 15 47252348 TATAGCATTC T 420 PASS - Del - 9 1 FANCC child 15_47252348_TATAGCATTCT_FANCC 9 9 3 ATA 0 - Microhomology-mediated 7f2b15a2-3288-11e6-ba61-6079a178171f 2_189619765_TTTTGAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 189619765 TTTTGA T 360 PASS DIRC1 Del intronic 5 1 FANCC child 2_189619765_TTTTGAT_FANCC 5 5 4 TTTG 0 - Microhomology-mediated 7f3bd942-325a-11e6-8340-da9012ae24cf 6_141182182_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 141182182 GT G 600 PASS - Del - 1 7 MSH6 child 6_141182182_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 7f40d328-329d-11e6-b696-dd6225c9da85 5_27733952_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 27733952 CT C 420 PASS - Del - 1 7 MSH6 child 5_27733952_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 7f50647e-328d-11e6-bb2d-24a320e7b7a8 X_74964980_GGT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA X 74964980 G GT 540 PASS - Ins - 1 7 POLE child X_74964980_GGT_POLE 1 1 - - - - Ins 7f551ed6-328a-11e6-8580-eccd191589db 16_58605568_GAAGGGAGAAAAAGACAGTTAAAATAATAGGAGGCCGGGCATAGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACTTGAGGTCAGGAGTTTGAGAGCAAAA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 16 58605568 GAAGGGAGAAAAAGACAGTTAAAATAATAGGAGGCCGGGCATAGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACTTGAGGTCAGGAGTTTGAGA GCAAAA 540 PASS CNOT1 Complex intronic 115 0 FANCC child 16_58605568_GAAGGGAGAAAAAGACAGTTAAAATAATAGGAGGCCGGGCATAGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACTTGAGGTCAGGAGTTTGAGAGCAAAA_FANCC 110 >=10 - - - - Complex 7f564f5c-3291-11e6-9d97-efe56f39e758 4_190578242_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 190578242 GT G 588 PASS RP11-462G22.1 Del upstream 1 1 MSH6 child 4_190578242_GTG_MSH6 1 1 0 - 0 T None 7f568890-3288-11e6-b9eb-c78fa2c71c31 6_56972200_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 56972200 TA T 840 PASS ZNF451 Del 3prime_UTR_variant 1 8 MSH6 child 6_56972200_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 7f62012c-3272-11e6-ba3c-6216cd638e3d 7_29435125_CAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 7 29435125 CA C 420 PASS CHN2 Del intronic 1 9 NEIL1 child 7_29435125_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 7f62b652-3273-11e6-94cc-1ec335cec73b 19_39864440_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 39864440 TA T 660 PASS SAMD4B Del intronic 1 7 MSH6 child 19_39864440_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7f688fc4-3254-11e6-acd5-c91dee3c4f5d 4_68069420_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 4 68069420 CA C 660 PASS - Del - 1 9 POLB child 4_68069420_CAC_POLB 1 1 1 A 8 A Repeat-mediated 7f69ef32-328a-11e6-a729-f0a020e7b7a8 9_132110931_CCTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 9 132110931 CCT C 540 PASS RP11-65J3.1 Del downstream 2 3 POLE child 9_132110931_CCTC_POLE 2 2 2 CT 2 CT Repeat-mediated 7f6c2858-327e-11e6-9f94-65e7b41afd22 8_15789237_TAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 8 15789237 TA T 660 PASS - Del - 1 7 POLM child 8_15789237_TAT_POLM 1 1 1 A 6 A Repeat-mediated 7f7126c8-3292-11e6-961b-e659e84777f6 1_222311034_TAGT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 1 222311034 TAG T 300 PASS RP11-400N13.1 Del intronic 2 6 CHK2 child 1_222311034_TAGT_CHK2 2 2 2 AG 5 AG Repeat-mediated 7f77b0dc-329d-11e6-ae71-0c5325c9da85 1_212030137_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 212030137 AG A 600 PASS - Del - 1 2 MSH6 child 1_212030137_AGA_MSH6 1 1 1 G 1 G Repeat-mediated 7f81d2f6-3270-11e6-b62b-e162a78019ab 8_61330808_AATAACAGTA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 8 61330808 AATAACAGT A 480 PASS RP11-163N6.2 Del upstream 8 2 POLM parent 8_61330808_AATAACAGTA_POLM 8 8 8 ATAACAGT 1 ATAACAGT Repeat-mediated 7f845aaa-3273-11e6-86e1-8d021ea8ec0e X_18301851_AAGA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA X 18301851 AAG A 360 PASS SCML2 Del intronic 2 1 POLB child X_18301851_AAGA_POLB 2 2 0 - 0 - None 7f92a814-3258-11e6-acc5-308412ae24cf 5_154311838_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 154311838 TA T 660 PASS GEMIN5 Del intronic 1 7 MSH6 child 5_154311838_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7f9eb5b0-3284-11e6-a0a8-096ea2c71c31 11_13092494_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 13092494 TA T 660 PASS CTC-497E21.5 Del intronic 1 7 MSH6 child 11_13092494_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7f9ff1a2-329b-11e6-8069-175325c9da85 12_96861585_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 96861585 GA G 720 PASS RP11-510I5.4 Del intronic 1 9 MSH6 child 12_96861585_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 7fa89c70-327e-11e6-90bd-91d3eab8d062 6_53429970_CTC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 6 53429970 CT C 960 PASS RP1-27K12.2 Del intronic 1 8 FANCC parent 6_53429970_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 7facae12-3285-11e6-b093-c9c7b0dab373 2_85298815_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 85298815 AT A 420 PASS RP11-60H5.1 Del upstream 1 9 MSH6 child 2_85298815_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 7fbb3256-3290-11e6-8612-7b73fc77b11e 5_113247347_GAGAG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 5 113247347 GAGA G 420 PASS - Del - 3 2 POLE child 5_113247347_GAGAG_POLE 3 3 3 AGA 1 AGA Repeat-mediated 7fd50ae6-326d-11e6-b9f4-5d1d694da5d2 14_78173398_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 78173398 TA T 660 PASS ALKBH1 Del intronic 1 7 MSH6 child 14_78173398_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 7fec4636-3289-11e6-821d-8c090e01a414 13_31725883_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 31725883 CA C 360 PASS HSPH1 Del splice_region 1 6 MSH6 child 13_31725883_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 7fecd870-3280-11e6-8049-10fc028949d4 1_62444369_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 1 62444369 AT A 840 PASS INADL Del intronic 1 8 POLM child 1_62444369_ATA_POLM 1 1 1 T 7 T Repeat-mediated 7ff8cd5a-3290-11e6-92cf-bf2a0e01a414 6_108735150_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 108735150 CA C 360 PASS LACE1 Del intronic 1 8 MSH6 child 6_108735150_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 80009f7a-3287-11e6-9bb4-ea6e3adbad45 13_78463133_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 13 78463133 GA G 660 PASS - Del - 1 7 NUDT1 parent 13_78463133_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated 8005fa9e-3325-11e6-95a6-476ac042253c 3_49976266_GAGTGCAGTGGCGCTATCTCGACTCACTGCAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 49976266 GAGTGCAGTGGCGCTATCTCGACTCACTGCA G 331 PASS RBM6 Del upstream 30 1 CHK2 child 3_49976266_GAGTGCAGTGGCGCTATCTCGACTCACTGCAG_CHK2 30 >=10 2 AG 0 - Microhomology-mediated 8008b0e8-3282-11e6-a2c9-149290e2c2e6 3_21695263_GGA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 21695263 G GA 480 PASS ZNF385D Ins intronic 1 8 NUDT1 child 3_21695263_GGA_NUDT1 1 1 - - - - Ins 80099552-3274-11e6-a5d0-4fd14a47a305 2_187120013_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 187120013 GA G 480 PASS - Del - 1 9 MSH6 child 2_187120013_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 801615a6-329d-11e6-94ca-0aaecc638e3d X_47831325_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 47831325 AT A 321 PASS ZNF182 Del downstream 1 8 MSH6 child X_47831325_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 801e5de6-3258-11e6-8cd9-139b7872c165 3_69758827_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 69758827 CA C 360 PASS - Del - 1 8 MSH6 child 3_69758827_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 8021ee4e-328e-11e6-8e48-791e0e01a414 8_58660398_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 58660398 CA C 420 PASS CTD-2339F6.1 Del intronic 1 7 MSH6 child 8_58660398_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 8022c0e6-3273-11e6-8f33-a6d9cde16804 11_101512806_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 101512806 CA C 480 PASS - Del - 1 9 MSH6 child 11_101512806_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 80240bb2-326f-11e6-b89d-b2d6b0dab373 4_3276133_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 3276133 GT G 300 PASS - Del - 1 2 MSH6 child 4_3276133_GTG_MSH6 1 1 1 T 1 T Repeat-mediated 80252e7c-3290-11e6-a400-33b64430f757 22_37185137_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 22 37185137 TA T 300 PASS - Del - 1 1 POLE child 22_37185137_TAT_POLE 1 1 0 - 0 A None 802ae9ee-3285-11e6-ae56-63a635cec73b 12_133161352_CTGC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 12 133161352 CTG C 300 PASS FBRSL1 Del 3prime_UTR_variant 2 1 POLE child 12_133161352_CTGC_POLE 2 2 1 T 0 - Microhomology-mediated 8033546e-3288-11e6-8b67-086ea2c71c31 1_109658323_TTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 109658323 T TG 300 PASS KIAA1324 Ins intronic 1 6 MSH6 child 1_109658323_TTG_MSH6 1 1 - - - - Ins 804c7078-3271-11e6-8b9c-cffdd8b4fa2c 11_31154067_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 11 31154067 CT C 480 PASS - Del - 1 9 MSH6 parent 11_31154067_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8057d9fa-3289-11e6-a80b-87090e01a414 11_14806306_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 14806306 AT A 600 PASS PDE3B Del intronic 1 9 MSH6 child 11_14806306_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 80610b9c-3270-11e6-a539-0e5542c4520d 7_107729548_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 107729548 CT C 420 PASS LAMB4 Del intronic 1 8 MSH6 child 7_107729548_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 80623952-3290-11e6-baa7-a96919a91649 2_217381834_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 2 217381834 TA T 360 PASS - Del - 1 7 NEIL1 child 2_217381834_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated 80669782-3276-11e6-83cd-a472a178171f 4_106545381_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 106545381 GA G 540 PASS ARHGEF38 Del intronic 1 8 MSH6 child 4_106545381_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8067e0e0-327d-11e6-8723-889be7d0bdd7 2_140866581_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 140866581 CT C 780 PASS AC073928.2 Del intronic 1 7 NUDT1 child 2_140866581_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 8069ce44-328e-11e6-9337-20a5e7d0bdd7 14_87442435_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 14 87442435 CA C 660 PASS RP11-736P16.1 Del intronic 1 7 FANCC child 14_87442435_CAC_FANCC 1 1 1 A 6 A Repeat-mediated 8070eb14-3277-11e6-b0ed-7298a20b69d5 6_140800431_ATA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 6 140800431 AT A 300 PASS - Del - 1 9 NUDT1 child 6_140800431_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 8072b098-329a-11e6-8d0f-075325c9da85 14_56987146_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 56987146 TA T 480 PASS RP11-624J12.1 Del intronic 1 5 MSH6 child 14_56987146_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 8075e68a-3274-11e6-869c-1303630e6611 19_50469688_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 19 50469688 CT C 600 PASS - Del - 1 9 CHK2 child 19_50469688_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 807cf6a2-329a-11e6-bda6-065325c9da85 13_57873649_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 57873649 TA T 840 PASS - Del - 1 8 MSH6 child 13_57873649_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 80803e3a-328a-11e6-8eee-76090e01a414 10_79814382_CGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 79814382 CG C 300 PASS RPS24 Del frameshift 1 6 MSH6 child 10_79814382_CGC_MSH6 1 1 1 G 5 G Repeat-mediated 8081635a-3258-11e6-8cd9-139b7872c165 3_70010886_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 70010886 CA C 420 PASS MITF Del intronic 1 8 MSH6 child 3_70010886_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 808962f4-328e-11e6-baa7-a96919a91649 2_12413863_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 2 12413863 CT C 360 PASS AC096559.1 Del intronic 1 7 NEIL1 child 2_12413863_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 809add1e-326f-11e6-b923-6726694da5d2 5_2463426_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 2463426 TA T 300 PASS - Del - 1 6 MSH6 child 5_2463426_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 80a45d20-3275-11e6-998e-ba48fa52e078 8_35203360_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 35203360 GA G 540 PASS UNC5D Del intronic 1 8 MSH6 child 8_35203360_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 80b042be-3290-11e6-9401-04ed6f39e758 3_36622954_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 36622954 TA T 540 PASS - Del - 1 9 MSH6 child 3_36622954_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 80beb542-3277-11e6-8c34-46e27872c165 5_151167763_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 151167763 GT G 840 PASS G3BP1 Del intronic 1 9 MSH6 child 5_151167763_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 80c39060-326f-11e6-8f14-87641565c797 19_46383972_TAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 19 46383972 TA T 360 PASS IRF2BP1 Del downstream 1 9 POLM child 19_46383972_TAT_POLM 1 1 1 A 8 A Repeat-mediated 80caa9de-3271-11e6-bbd0-e88a64f80bad 16_69977153_GGT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 16 69977153 G GT 460 PASS WWP2 Ins downstream 1 5 EXO1 parent 16_69977153_GGT_EXO1 1 1 - - - - Ins 80cae7c4-3270-11e6-9eec-5017987b3f23 10_4429826_TAT . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 10 4429826 TA T 600 PASS LINC00703 Del intronic 1 8 POLB child 10_4429826_TAT_POLB 1 1 1 A 7 A Repeat-mediated 80caeb72-3291-11e6-9c89-8d090e01a414 1_241222681_GGTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 241222681 G GTA 360 PASS RGS7 Ins intronic 2 3 MSH6 child 1_241222681_GGTA_MSH6 2 2 - - - - Ins 80cceeea-3255-11e6-89d3-d29498816cf3 2_212336229_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 212336229 CA C 480 PASS ERBB4 Del intronic 1 9 MSH6 child 2_212336229_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 80d23c50-3292-11e6-8c3d-0ab4e7d0bdd7 3_141459471_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 141459471 AT A 420 PASS RNF7 Del intronic 1 8 FANCC child 3_141459471_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 80d26700-328f-11e6-9d97-efe56f39e758 4_58340198_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 58340198 AT A 660 PASS - Del - 1 6 MSH6 child 4_58340198_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 80d5866e-3254-11e6-b4d0-327a7872c165 11_65329131_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 65329131 AC A 714 PASS LTBP3 Del upstream 1 7 MSH6 child 11_65329131_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 80df4a04-3296-11e6-8ff8-970ab51afd22 X_150247336_TAT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA X 150247336 TA T 300 PASS - Del - 1 1 NEIL1 child X_150247336_TAT_NEIL1 1 1 0 - 0 A None 80e27ae2-3289-11e6-a32d-75090e01a414 14_34807587_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 34807587 AC A 420 PASS - Del - 1 1 MSH6 child 14_34807587_ACA_MSH6 1 1 0 - 0 C None 80e5d574-3271-11e6-aebf-545f42c4520d 5_13183768_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 5 13183768 AT A 420 PASS CTC-305H11.1 Del downstream 1 4 POLB child 5_13183768_ATA_POLB 1 1 1 T 3 T Repeat-mediated 80ebe7d2-3273-11e6-8fda-8f271daa6045 X_108967504_GTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA X 108967504 GT G 300 PASS ACSL4 Del intronic 1 7 NUDT1 child X_108967504_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated 80f02408-328e-11e6-8feb-ac6919a91649 19_6192604_CTGC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 19 6192604 CTG C 420 PASS ACSBG2 Del intronic 2 2 NEIL1 child 19_6192604_CTGC_NEIL1 2 2 2 TG 1 TG Repeat-mediated 80f239f4-3285-11e6-8b67-086ea2c71c31 1_91890568_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 91890568 CT C 300 PASS - Del - 1 8 MSH6 child 1_91890568_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 80f25048-3284-11e6-a722-38d09b6d3b88 3_48101838_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 48101838 TA T 360 PASS MAP4 Del intronic 1 9 EXO1 child 3_48101838_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 80fb0efc-326d-11e6-92dd-fda8977b3f23 10_73377296_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 73377296 GA G 300 PASS CDH23 Del intronic 1 9 MSH6 child 10_73377296_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 80ff164e-3274-11e6-b332-88ba7d6a9fc7 15_86519851_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 86519851 GT G 300 PASS - Del - 1 8 MSH6 child 15_86519851_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 8116a7ce-3255-11e6-9f9d-2c7a7872c165 12_127688603_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 127688603 GA G 540 PASS - Del - 1 9 MSH6 child 12_127688603_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 81187f70-3289-11e6-94b1-74090e01a414 17_12629798_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 12629798 TA T 480 PASS MYOCD Del intronic 1 8 MSH6 child 17_12629798_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 81195a22-328d-11e6-a80b-87090e01a414 11_132137823_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 132137823 G GT 660 PASS NTM Ins intronic 1 7 MSH6 child 11_132137823_GGT_MSH6 1 1 - - - - Ins 8129ff22-3287-11e6-b32c-fd87a2c71c31 5_139092216_TGAGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 139092216 TGAG T 540 PASS CTB-35F21.1 Del intronic 3 3 MSH6 child 5_139092216_TGAGT_MSH6 3 3 3 GAG 2 GAG Repeat-mediated 8132327e-3290-11e6-9d97-efe56f39e758 4_128828568_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 128828568 AT A 600 PASS - Del - 1 6 MSH6 child 4_128828568_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 8135ed28-329b-11e6-b549-1e5325c9da85 10_99319744_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 99319744 GT G 660 PASS UBTD1 Del intronic 1 8 MSH6 child 10_99319744_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 81397dc6-3345-11e6-840b-09aab0dab373 1_11923641_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 1 11923641 AT A 600 PASS NPPB Del upstream 1 9 FANCC child 1_11923641_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 8152a722-328e-11e6-8e48-791e0e01a414 8_59119635_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 59119635 CT C 300 PASS - Del - 1 7 MSH6 child 8_59119635_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 815b12f2-329a-11e6-a0ea-135325c9da85 15_51566993_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 51566993 AT A 420 PASS CYP19A1 Del intronic 1 9 MSH6 child 15_51566993_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8161533c-3278-11e6-8629-39703cfdbd24 4_149561958_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 4 149561958 CT C 660 PASS - Del - 1 5 CHK2 child 4_149561958_CTC_CHK2 1 1 1 T 4 T Repeat-mediated 81615c1a-328c-11e6-b8e6-91c36f39e758 11_64848742_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 64848742 CA C 420 PASS CDCA5 Del intronic 1 8 MSH6 child 11_64848742_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 8163b444-3271-11e6-b89d-b2d6b0dab373 4_136061231_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 136061231 AT A 420 PASS - Del - 1 5 MSH6 child 4_136061231_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 81661b5c-3272-11e6-bbeb-70bd19a91649 20_40677449_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 40677449 GT G 300 PASS - Del - 1 8 MSH6 child 20_40677449_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 816ea014-3273-11e6-83ef-69fb06e9a829 18_77355747_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 77355747 AT A 600 PASS - Del - 1 8 MSH6 child 18_77355747_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8173237c-328d-11e6-88c1-95c36f39e758 14_41271672_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 41271672 A AT 720 PASS - Ins - 1 8 MSH6 child 14_41271672_AAT_MSH6 1 1 - - - - Ins 8188156c-3291-11e6-b81f-4ee66f39e758 8_126253076_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 126253076 CA C 600 PASS NSMCE2 Del intronic 1 8 MSH6 child 8_126253076_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 81896636-3289-11e6-94b1-74090e01a414 17_12699532_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 12699532 GT G 360 PASS ARHGAP44 Del intronic 1 9 MSH6 child 17_12699532_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 818e0a6c-329b-11e6-b129-195325c9da85 16_75457414_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 75457414 GT G 840 PASS CFDP1 Del intronic 1 9 MSH6 child 16_75457414_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 8191efd2-3274-11e6-84df-cb0cebb8d062 14_89437905_ACA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 14 89437905 AC A 720 PASS - Del - 1 1 EXO1 child 14_89437905_ACA_EXO1 1 1 0 - 0 C None 819afe30-3254-11e6-b4d0-327a7872c165 11_65503871_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 65503871 CT C 720 PASS - Del - 1 9 MSH6 child 11_65503871_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 819dee56-3254-11e6-bc65-c9667872c165 13_94312406_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 94312406 GA G 300 PASS GPC6 Del intronic 1 8 MSH6 child 13_94312406_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 81aa3f54-3285-11e6-8b67-086ea2c71c31 1_92156466_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 92156466 CT C 420 PASS TGFBR3 Del intronic 1 9 MSH6 child 1_92156466_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 81b1a7e8-329a-11e6-b723-b29fcc638e3d 19_32767964_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 32767964 CA C 300 PASS - Del - 1 9 MSH6 child 19_32767964_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 81b2be80-3290-11e6-9432-c0e56f39e758 5_136590092_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 136590092 CA C 540 PASS SPOCK1 Del intronic 1 9 MSH6 child 5_136590092_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 81b8c5c4-328f-11e6-bb1e-70e16f39e758 X_91431983_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 91431983 GT G 480 PASS PCDH11X Del intronic 1 9 MSH6 child X_91431983_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 81be6752-326e-11e6-9d68-ac9acab49462 15_83536559_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 83536559 TG T 300 PASS HOMER2 Del intronic 1 6 MSH6 child 15_83536559_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 81bea046-3273-11e6-83ef-69fb06e9a829 18_77474278_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 77474278 GA G 668 PASS CTDP1 Del intronic 1 7 MSH6 child 18_77474278_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 81c19c7a-3272-11e6-975f-8246cab49462 16_8444643_TTTCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 8444643 TTTC T 300 PASS - Del - 3 1 MSH6 child 16_8444643_TTTCT_MSH6 3 3 0 - 0 - None 81c23bbc-326d-11e6-b2ac-b6204b47a305 17_53142108_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 53142108 AC A 360 PASS STXBP4 Del intronic 1 3 MSH6 child 17_53142108_ACA_MSH6 1 1 1 C 2 C Repeat-mediated 81d75d8e-3273-11e6-a15b-aa11cd638e3d 13_110644455_TTA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 13 110644455 T TA 480 PASS - Ins - 1 8 CHK2 child 13_110644455_TTA_CHK2 1 1 - - - - Ins 81d7a8a8-329a-11e6-b549-1e5325c9da85 10_36458855_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 36458855 CA C 540 PASS - Del - 1 8 MSH6 child 10_36458855_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 81db0b74-329f-11e6-94ca-0aaecc638e3d X_126446654_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 126446654 CA C 480 PASS - Del - 1 9 MSH6 child X_126446654_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 81e3ebfa-328f-11e6-9432-c0e56f39e758 5_62246280_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 62246280 TC T 480 PASS - Del - 1 6 MSH6 child 5_62246280_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 81e4914e-3277-11e6-972b-b65bfc77b11e 1_39569219_CCATCA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 39569219 C CATCA 840 PASS MACF1 Ins intronic 4 1 CHK2 child 1_39569219_CCATCA_CHK2 4 4 - - - - Ins 81f10ca8-3277-11e6-bc24-bc6e3cfdbd24 6_91805405_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 91805405 CT C 360 PASS - Del - 1 8 MSH6 parent 6_91805405_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 81f7d18c-3286-11e6-a21c-b819bce6aa09 X_34842067_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 34842067 GA G 780 PASS - Del - 1 7 MSH6 child X_34842067_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 81fd30b2-328d-11e6-84e9-d36dfd44d094 2_113722753_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 2 113722753 AT A 600 PASS - Del - 1 9 POLM child 2_113722753_ATA_POLM 1 1 1 T 8 T Repeat-mediated 81fd7660-3285-11e6-ae72-519738e8a824 5_147567596_TCT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 5 147567596 TC T 900 PASS - Del - 1 1 POLE parent 5_147567596_TCT_POLE 1 1 0 - 0 C None 82026316-32a1-11e6-a04f-c66a25c9da85 6_145123526_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 145123526 AT A 840 PASS UTRN Del intronic 1 8 MSH6 child 6_145123526_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8203e52c-3285-11e6-8b67-086ea2c71c31 1_92254701_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 92254701 TA T 420 PASS TGFBR3 Del intronic 1 5 MSH6 child 1_92254701_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 8205d518-3284-11e6-97d5-6cf1bbe6aa09 17_11083582_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 11083582 TA T 420 PASS - Del - 1 7 MSH6 child 17_11083582_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 820808f8-328c-11e6-8952-77c36f39e758 10_62373829_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 62373829 CA C 360 PASS ANK3 Del intronic 1 9 MSH6 child 10_62373829_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 821b7eb2-328f-11e6-8e48-791e0e01a414 8_131527547_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 131527547 CA C 540 PASS - Del - 1 9 MSH6 child 8_131527547_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8223e0e8-327b-11e6-82a3-016048d16a24 10_20998648_GAG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 10 20998648 GA G 360 PASS - Del - 1 3 POLM child 10_20998648_GAG_POLM 1 1 1 A 2 A Repeat-mediated 822ff1ec-326e-11e6-acc7-e55219a91649 1_175963707_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 175963707 CA C 300 PASS RFWD2 Del intronic 1 7 MSH6 child 1_175963707_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 8231980e-327c-11e6-a25d-ed8590e2c2e6 13_49023861_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 13 49023861 TA T 480 PASS RB1 Del intronic 1 9 NUDT1 child 13_49023861_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 82375fa0-3272-11e6-81c8-19f506e9a829 2_117619318_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 117619318 CT C 420 PASS - Del - 1 9 FANCC child 2_117619318_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 823c0650-3320-11e6-a0da-d5be12ae24cf 19_29205784_TAATTCTGGGACTTGATTCTTGAATGGCATTTCTGGACCTGTCCTGGGTCAGAGGGAGGGAAGCCCACTGCCCTGAAGGGTGAGTCCCAGGCCAGGCAGCATTCACCACCAACTGAGTCGAGAGACCTGGGGCCTTACAGGAACATCAGCAATAGTCTGGCAGTAGTCCTTGTGGCCTGGGATGGTGGTAGCTACAGGGTGAGGCTCCTCTGCTTTTGGAAAGCGGACAGAAGAGTGGGAAGGACTGCATCTTGTGGTTTGAGTGTCAGCTCAGCCACAGTACAACAGAACACCAGGTAGACGTCTAAGGCTTTGACTCTAGTCCCTGACTTCAAGATGACACCTCTGGATCCACCTGGAGCCTGGGGGACCTCATCACCCTGAAGGGAAGGACACAGGCCTGGCTGGCTTTGTCACTTGCTGACTGTTAAGCCCCAGGTTCTTGAGCAAACATAGGCAGTAGCCAGGATGTGGTTACAGTAGGCCTTGGGTGAGT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 19 29205784 TAATTCTGGGACTTGATTCTTGAATGGCATTTCTGGACCTGTCCTGGGTCAGAGGGAGGGAAGCCCACTGCCCTGAAGGGTGAGTCCCAGGCCAGGCAGCATTCACCACCAACTGAGTCGAGAGACCTGGGGCCTTACAGGAACATCAGCAATAGTCTGGCAGTAGTCCTTGTGGCCTGGGATGGTGGTAGCTACAGGGTGAGGCTCCTCTGCTTTTGGAAAGCGGACAGAAGAGTGGGAAGGACTGCATCTTGTGGTTTGAGTGTCAGCTCAGCCACAGTACAACAGAACACCAGGTAGACGTCTAAGGCTTTGACTCTAGTCCCTGACTTCAAGATGACACCTCTGGATCCACCTGGAGCCTGGGGGACCTCATCACCCTGAAGGGAAGGACACAGGCCTGGCTGGCTTTGTCACTTGCTGACTGTTAAGCCCCAGGTTCTTGAGCAAACATAGGCAGTAGCCAGGATGTGGTTACAGTAGGCCTTGGGTGAG T 840 PASS AC005307.3 Del intronic 494 1 POLE child 19_29205784_TAATTCTGGGACTTGATTCTTGAATGGCATTTCTGGACCTGTCCTGGGTCAGAGGGAGGGAAGCCCACTGCCCTGAAGGGTGAGTCCCAGGCCAGGCAGCATTCACCACCAACTGAGTCGAGAGACCTGGGGCCTTACAGGAACATCAGCAATAGTCTGGCAGTAGTCCTTGTGGCCTGGGATGGTGGTAGCTACAGGGTGAGGCTCCTCTGCTTTTGGAAAGCGGACAGAAGAGTGGGAAGGACTGCATCTTGTGGTTTGAGTGTCAGCTCAGCCACAGTACAACAGAACACCAGGTAGACGTCTAAGGCTTTGACTCTAGTCCCTGACTTCAAGATGACACCTCTGGATCCACCTGGAGCCTGGGGGACCTCATCACCCTGAAGGGAAGGACACAGGCCTGGCTGGCTTTGTCACTTGCTGACTGTTAAGCCCCAGGTTCTTGAGCAAACATAGGCAGTAGCCAGGATGTGGTTACAGTAGGCCTTGGGTGAGT_POLE 494 >=10 1 A 0 - Microhomology-mediated 824d2f44-328e-11e6-919e-92c36f39e758 2_202497832_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 202497832 AT A 420 PASS TMEM237 Del intronic 1 8 MSH6 child 2_202497832_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 82586d9a-3271-11e6-abaf-4642cab49462 6_3232899_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 3232899 CT C 420 PASS TUBB2B Del upstream 1 8 MSH6 child 6_3232899_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 825a21d2-326f-11e6-a539-0e5542c4520d 7_34589867_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 34589867 TA T 720 PASS - Del - 1 8 MSH6 child 7_34589867_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 825c17de-327a-11e6-8de8-fc8b5d753391 10_4650897_AAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 10 4650897 A AC 420 PASS - Ins - 1 2 FANCC parent 10_4650897_AAC_FANCC 1 1 - - - - Ins 825d1e54-3275-11e6-afb6-12832aaffa45 8_121466031_TTATATATAAATAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 8 121466031 TTATATATAAATA T 540 PASS MTBP Del intronic 12 1 CHK2 child 8_121466031_TTATATATAAATAT_CHK2 12 >=10 3 TAT 0 - Microhomology-mediated 825e911a-3286-11e6-b32c-fd87a2c71c31 5_29628878_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 29628878 TA T 480 PASS - Del - 1 8 MSH6 child 5_29628878_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 82605e3a-3283-11e6-bb60-c21d694da5d2 6_50876548_AGATTGGTATTTGA . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 6 50876548 AGATTGGTATTTG A 300 PASS - Del - 12 1 NEIL1 child 6_50876548_AGATTGGTATTTGA_NEIL1 12 >=10 0 - 0 - None 826e5174-3284-11e6-85df-bb936f39e758 14_77310077_CTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTGTGATCTCAGCTCACTGCAATCTCCACCTCCCAGATTCAAGCATTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGCCATCATGCCTAATTTTTGTATTCTTAGTAGAGACAGGGTTTTGCCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCACTCGCCTTGGCCTGTAAAAGTTCTGGGATTATAGGCATGAGCCACAGTACCCAGGCTCCTTTTCTTTTTTTAAAAACAGGATCTTGGC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 14 77310077 CTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTGTGATCTCAGCTCACTGCAATCTCCACCTCCCAGATTCAAGCATTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGCCATCATGCCTAATTTTTGTATTCTTAGTAGAGACAGGGTTTTGCCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCACTCGCCTTGGCCTGTAAAAGTTCTGGGATTATAGGCATGAGCCACAGTACCCAGGCTCCTTTTCTTTTTTTAAAAACAGGATCTTGG C 300 PASS C14orf166B Del intronic 297 1 EXO1 child 14_77310077_CTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTGTGATCTCAGCTCACTGCAATCTCCACCTCCCAGATTCAAGCATTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGCCATCATGCCTAATTTTTGTATTCTTAGTAGAGACAGGGTTTTGCCATATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCACTCGCCTTGGCCTGTAAAAGTTCTGGGATTATAGGCATGAGCCACAGTACCCAGGCTCCTTTTCTTTTTTTAAAAACAGGATCTTGGC_EXO1 297 >=10 28 TCTGTCACCCAGGCTGGAGTGCAGTGGC 0 - Microhomology-mediated 82710912-3286-11e6-b84c-a2a0fc1f1540 1_117600676_GTG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 117600676 GT G 300 PASS TTF2 Del upstream 1 9 FANCC child 1_117600676_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 82754fe6-329e-11e6-91d0-016425c9da85 7_65071959_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 65071959 TG T 1043 PASS - Del - 1 7 MSH6 child 7_65071959_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 82769a62-3290-11e6-a043-93e7977b3f23 3_68565934_CTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 3 68565934 CT C 300 PASS FAM19A1 Del intronic 1 9 NEIL1 child 3_68565934_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated 827dfc26-3290-11e6-b81f-4ee66f39e758 8_51300055_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 51300055 AT A 420 PASS SNTG1 Del intronic 1 9 MSH6 child 8_51300055_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 827f21e0-3291-11e6-99d8-a1aee7d0bdd7 8_122693143_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 122693143 TA T 780 PASS RP11-3G20.1 Del intronic 1 7 FANCC child 8_122693143_TAT_FANCC 1 1 1 A 6 A Repeat-mediated 8281bd76-3276-11e6-acb5-bbf1bbe6aa09 7_152633255_TAGGT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 7 152633255 TAGG T 300 PASS - Del - 3 1 POLB child 7_152633255_TAGGT_POLB 3 3 2 AG 0 - Microhomology-mediated 82906cfe-3271-11e6-8141-e0f3eab8d062 16_57273097_CCCAAG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 16 57273097 C CCAAG 720 PASS RSPRY1 Ins 3prime_UTR_variant 4 0 NUDT1 child 16_57273097_CCCAAG_NUDT1 4 4 - - - - Ins 829d73a8-3290-11e6-b81f-4ee66f39e758 8_51354545_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 51354545 GA G 660 PASS SNTG1 Del intronic 1 9 MSH6 child 8_51354545_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 82a1593c-3326-11e6-841a-c49690e2c2e6 6_128753853_AATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 6 128753853 AAT A 480 PASS PTPRK Del intronic 2 1 POLE child 6_128753853_AATA_POLE 2 2 0 - 0 - None 82a86166-3324-11e6-af9a-d45da78019ab 12_108651733_TTG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 12 108651733 T TG 420 PASS - Ins - 1 4 POLE child 12_108651733_TTG_POLE 1 1 - - - - Ins 82b091d0-3287-11e6-b2c0-5aa538e8a824 19_19840541_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 19 19840541 TA T 840 PASS ZNF14 Del intronic 1 9 NUDT1 parent 19_19840541_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 82b17a52-3271-11e6-b5d9-38f41da8ec0e 15_58101801_ATGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 15 58101801 ATG A 300 PASS - Del - 2 7 FANCC child 15_58101801_ATGA_FANCC 2 2 2 TG 6 TG Repeat-mediated 82bb6ea4-3325-11e6-8b24-4ab97d6a9fc7 4_69499542_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 4 69499542 AT A 360 PASS - Del - 1 7 EXO1 child 4_69499542_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 82c01248-328e-11e6-b9c4-751d0e01a414 5_153352713_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 153352713 CA C 250 PASS - Del - 1 6 MSH6 child 5_153352713_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 82c2b032-3254-11e6-aedc-3df212ae24cf 19_39092357_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 39092357 GT G 660 PASS MAP4K1 Del intronic 1 9 MSH6 child 19_39092357_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 82c30b82-3253-11e6-81f9-42f212ae24cf 17_799283_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 799283 CA C 510 PASS NXN Del intronic 1 7 MSH6 child 17_799283_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 82c3155c-3328-11e6-8c6b-3c0f42c4520d 4_177286301_GGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 4 177286301 G GT 480 PASS - Ins - 1 6 EXO1 child 4_177286301_GGT_EXO1 1 1 - - - - Ins 82c742d8-3276-11e6-998e-ba48fa52e078 8_53684692_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 53684692 CA C 660 PASS - Del - 1 9 MSH6 child 8_53684692_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 82c9f804-3274-11e6-9065-cc4890e2c2e6 1_236727251_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 236727251 TA T 300 PASS HEATR1 Del intronic 1 7 MSH6 parent 1_236727251_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 82cbfeee-329f-11e6-a04f-c66a25c9da85 6_18392098_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 18392098 CA C 360 PASS RNF144B Del intronic 1 9 MSH6 child 6_18392098_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 82d43c00-328e-11e6-bd84-429305ad5bc4 1_85241223_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 85241223 A AT 480 PASS - Ins - 1 1 MSH6 child 1_85241223_AAT_MSH6 1 1 - - - - Ins 82d50ece-328d-11e6-bfa2-581f0e01a414 7_52411781_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 52411781 CT C 300 PASS - Del - 1 9 MSH6 child 7_52411781_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 82d8308a-3275-11e6-88b6-40832aaffa45 1_182012068_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 182012068 AT A 660 PASS - Del - 1 5 EXO1 child 1_182012068_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 82da578e-3275-11e6-84df-cb0cebb8d062 14_58479737_GGA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 14 58479737 G GA 540 PASS C14orf37 Ins intronic 1 6 EXO1 child 14_58479737_GGA_EXO1 1 1 - - - - Ins 82e0fafc-3276-11e6-8c46-ff5e90e2c2e6 4_64080665_CTC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 4 64080665 CT C 420 PASS - Del - 1 7 POLB child 4_64080665_CTC_POLB 1 1 1 T 6 T Repeat-mediated 82e3615a-328c-11e6-919e-92c36f39e758 2_65945486_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 65945486 TA T 480 PASS AC074391.1 Del intronic 1 8 MSH6 child 2_65945486_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 82e424aa-3273-11e6-83ef-69fb06e9a829 18_77691859_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 77691859 CA C 300 PASS PQLC1 Del intronic 1 8 MSH6 child 18_77691859_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 82e4414c-3291-11e6-80ab-78dad8b4fa2c 19_15097175_CAC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 19 15097175 CA C 420 PASS SLC1A6 Del intronic 1 9 NUDT1 child 19_15097175_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated 82ea57d6-326d-11e6-acc7-e55219a91649 1_91529707_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 91529707 GA G 300 PASS - Del - 1 7 MSH6 child 1_91529707_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 82f21328-328f-11e6-bec1-ca1d0e01a414 X_16045739_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 16045739 T TA 540 PASS - Ins - 1 7 MSH6 child X_16045739_TTA_MSH6 1 1 - - - - Ins 82f7ed22-329c-11e6-aca6-b39fcc638e3d 2_178041457_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 178041457 TA T 420 PASS - Del - 1 9 MSH6 child 2_178041457_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 82fbe360-3278-11e6-b021-16ab4430f757 3_119166952_ATCCCA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 3 119166952 ATCCC A 420 PASS TMEM39A Del intronic 4 1 EXO1 child 3_119166952_ATCCCA_EXO1 4 4 1 T 0 - Microhomology-mediated 82fe0a5a-328c-11e6-aa75-90c36f39e758 13_82104004_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 82104004 TA T 360 PASS - Del - 1 8 MSH6 child 13_82104004_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8304eabc-3284-11e6-9daa-026ea2c71c31 14_34702134_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 34702134 TA T 600 PASS - Del - 1 9 MSH6 child 14_34702134_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8307c868-3284-11e6-b8a8-aac02daed38e 8_84764903_GCTCAG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 8 84764903 GCTCA G 360 PASS - Del - 4 1 POLB child 8_84764903_GCTCAG_POLB 4 4 0 - 0 - None 83088546-327f-11e6-97a4-78cfaa716c52 5_125180417_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 5 125180417 GA G 537 PASS - Del - 1 7 POLB parent 5_125180417_GAG_POLB 1 1 1 A 6 A Repeat-mediated 830b664a-3292-11e6-9401-04ed6f39e758 3_179318442_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 179318442 TA T 660 PASS NDUFB5 Del upstream 1 8 MSH6 child 3_179318442_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8311c1fc-3274-11e6-8607-751ad9b4fa2c 22_40806781_GCG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 40806781 GC G 660 PASS MKL1 Del 3prime_UTR_variant 1 9 MSH6 child 22_40806781_GCG_MSH6 1 1 1 C 8 C Repeat-mediated 8312851c-3277-11e6-8c34-46e27872c165 5_151675251_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 151675251 AT A 780 PASS - Del - 1 7 MSH6 child 5_151675251_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 83141986-3277-11e6-9e0f-7959cab49462 7_135793435_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 135793435 CT C 420 PASS AC009784.3 Del intronic 1 8 MSH6 child 7_135793435_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 831a9efc-3289-11e6-8459-82090e01a414 12_13665272_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 13665272 TA T 840 PASS - Del - 1 6 MSH6 child 12_13665272_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 831bd074-32a2-11e6-aea7-956725c9da85 3_59895327_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 59895327 A AT 660 PASS FHIT Ins intronic 1 8 MSH6 child 3_59895327_AAT_MSH6 1 1 - - - - Ins 831bfb9c-3254-11e6-89d3-d29498816cf3 2_107803089_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 107803089 GA G 360 PASS - Del - 1 7 MSH6 child 2_107803089_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 8339d06c-3255-11e6-89d3-d29498816cf3 2_213298236_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 213298236 TA T 420 PASS ERBB4 Del intronic 1 5 MSH6 child 2_213298236_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 8342103c-326f-11e6-bfba-13bf4a47a305 9_111055218_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 111055218 TA T 420 PASS - Del - 1 8 MSH6 child 9_111055218_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 834e7b7e-326f-11e6-bf40-308964f80bad 4_72035041_ATA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 4 72035041 AT A 360 PASS - Del - 1 7 POLM parent 4_72035041_ATA_POLM 1 1 1 T 6 T Repeat-mediated 8353d874-3325-11e6-b0c6-e1e369062303 5_58592942_GAAGAATTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 5 58592942 GAAGAATT G 480 PASS PDE4D Del intronic 7 1 EXO1 child 5_58592942_GAAGAATTG_EXO1 7 7 3 AAG 0 - Microhomology-mediated 8357bd4e-329a-11e6-b549-1e5325c9da85 10_36847087_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 36847087 GT G 660 PASS - Del - 1 7 MSH6 child 10_36847087_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 836032fc-328c-11e6-a70a-47793adbad45 3_80131189_CCA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 80131189 C CA 1020 PASS - Ins - 1 5 NUDT1 parent 3_80131189_CCA_NUDT1 1 1 - - - - Ins 83606822-329f-11e6-94ca-0aaecc638e3d X_126980997_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 126980997 AT A 300 PASS - Del - 1 9 MSH6 child X_126980997_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8376a9f6-328c-11e6-919e-92c36f39e758 2_66372663_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 66372663 CT C 300 PASS - Del - 1 9 MSH6 child 2_66372663_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 837af728-32a4-11e6-a04f-c66a25c9da85 6_158622933_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 158622933 C CA 660 PASS GTF2H5 Ins downstream 1 6 MSH6 child 6_158622933_CCA_MSH6 1 1 - - - - Ins 837c603a-326e-11e6-acc7-e55219a91649 1_176327037_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 176327037 CA C 420 PASS - Del - 1 5 MSH6 child 1_176327037_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 83820914-3281-11e6-90fa-7e3c204bbf9c 17_72970177_GGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCGCCCGAGTAGCTGGGTCTACAGGGGCCCGCCACCACCCCCAGCTAATTTTTTTTTGTTTTTAGTAGAGATAGAGTTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTATTATTTATTTATTTATTCATTCATTCATTCATGCATGCATGCATGCATTTTGCAGACGAGGTTTCACTCTGTTGCCCATG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 17 72970177 GGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCGCCCGAGTAGCTGGGTCTACAGGGGCCCGCCACCACCCCCAGCTAATTTTTTTTTGTTTTTAGTAGAGATAGAGTTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTATTATTTATTTATTTATTCATTCATTCATTCATGCATGCATGCATGCATTTTGCAGACGAGGTTTCACTCTGTTGCCCAT G 286 PASS HID1 Del upstream 339 1 EXO1 child 17_72970177_GGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCGCCCGAGTAGCTGGGTCTACAGGGGCCCGCCACCACCCCCAGCTAATTTTTTTTTGTTTTTAGTAGAGATAGAGTTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTATTATTTATTTATTTATTCATTCATTCATTCATGCATGCATGCATGCATTTTGCAGACGAGGTTTCACTCTGTTGCCCATG_EXO1 339 >=10 15 GCTGGAGTGCAGTGG 0 - Microhomology-mediated 839fee3a-3271-11e6-b89d-b2d6b0dab373 4_136641828_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 136641828 TA T 300 PASS - Del - 1 8 MSH6 child 4_136641828_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 83ad0dd4-3291-11e6-b77d-2eef6f39e758 6_68654012_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 68654012 CA C 540 PASS - Del - 1 8 MSH6 child 6_68654012_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 83b526c4-3271-11e6-b799-add079852e0e 11_55528348_AAGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 11 55528348 AAG A 340 PASS - Del - 2 2 FANCC child 11_55528348_AAGA_FANCC 2 2 2 AG 1 AG Repeat-mediated 83b98976-3285-11e6-a8af-066ea2c71c31 15_73265266_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 73265266 AT A 300 PASS - Del - 1 8 MSH6 child 15_73265266_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 83c31580-329a-11e6-a5cf-205325c9da85 11_40290216_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 40290216 CA C 540 PASS LRRC4C Del intronic 1 8 MSH6 child 11_40290216_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 83c86220-329e-11e6-91d0-016425c9da85 7_65288132_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 65288132 CT C 300 PASS - Del - 1 8 MSH6 child 7_65288132_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 83cdeb46-328f-11e6-b2c7-1b63694da5d2 9_131596831_GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGGGAGTGGATCATCTGAGGTCAGGAGTTGGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTTGTACATGCCTGTAATCCCAGTTACCCAACTACTCAGGAGGCTAAGGGAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGTGCTGAGATTGCGCCACTGCACTCCCACCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGAGCAG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 9 131596831 GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGGGAGTGGATCATCTGAGGTCAGGAGTTGGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTTGTACATGCCTGTAATCCCAGTTACCCAACTACTCAGGAGGCTAAGGGAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGTGCTGAGATTGCGCCACTGCACTCCCACCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGAGCA G 300 PASS C9orf114 Del upstream 313 1 POLM child 9_131596831_GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGGGAGTGGATCATCTGAGGTCAGGAGTTGGAGACTAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTTGTACATGCCTGTAATCCCAGTTACCCAACTACTCAGGAGGCTAAGGGAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGTGCTGAGATTGCGCCACTGCACTCCCACCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGAGCAG_POLM 313 >=10 37 GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC 0 - Microhomology-mediated 83d006ac-328e-11e6-aa75-90c36f39e758 13_109491768_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 109491768 A AT 360 PASS MYO16 Ins intronic 1 8 MSH6 child 13_109491768_AAT_MSH6 1 1 - - - - Ins 83d8d148-3279-11e6-a391-f6d67d6a9fc7 6_141150640_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 141150640 CT C 720 PASS - Del - 1 9 MSH6 child 6_141150640_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 83ee7d98-3258-11e6-971b-98a02aaffa45 5_166964421_CTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 5 166964421 CT C 840 PASS TENM2 Del intronic 1 2 POLM child 5_166964421_CTC_POLM 1 1 1 T 1 T Repeat-mediated 83f43eea-3253-11e6-a4a7-35f212ae24cf 14_19518390_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 19518390 AT A 250 PASS CTD-2311B13.1 Del downstream 1 8 MSH6 child 14_19518390_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 83f8bd4e-3285-11e6-b093-c9c7b0dab373 2_86291286_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 86291286 CT C 720 PASS POLR1A Del intronic 1 9 MSH6 child 2_86291286_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 83fa9ef0-32a0-11e6-bc66-17b4cc638e3d 8_113362843_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 113362843 CA C 660 PASS CSMD3 Del intronic 1 9 MSH6 child 8_113362843_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 83fd6924-3290-11e6-b81f-4ee66f39e758 8_52141098_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 52141098 AT A 600 PASS - Del - 1 9 MSH6 child 8_52141098_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8406e9cc-328b-11e6-8459-82090e01a414 12_127562689_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 127562689 AT A 360 PASS - Del - 1 8 MSH6 child 12_127562689_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 840f4702-3290-11e6-9230-fb250e01a414 3_171619058_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 171619058 TA T 360 PASS TMEM212-AS1 Del upstream 1 8 MSH6 child 3_171619058_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 840f777c-3286-11e6-afcf-0311bce6aa09 9_87729194_GTCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 87729194 GTC G 420 PASS - Del - 2 8 MSH6 child 9_87729194_GTCG_MSH6 2 2 2 TC 7 TC Repeat-mediated 840fee42-328a-11e6-b805-77090e01a414 2_81889376_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 81889376 CT C 420 PASS - Del - 1 7 MSH6 child 2_81889376_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 841689f8-3278-11e6-81cf-37408a20d9eb 8_110440788_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 110440788 TA T 360 PASS PKHD1L1 Del intronic 1 8 EXO1 child 8_110440788_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 8417f80e-3284-11e6-97d5-6cf1bbe6aa09 17_11825614_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 11825614 AT A 540 PASS DNAH9 Del intronic 1 8 MSH6 child 17_11825614_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8420a432-3323-11e6-bb27-954af7d33ce3 21_31885038_TACTAAAGCTTCTAGAATTTTATAGGAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 21 31885038 TACTAAAGCTTCTAGAATTTTATAGGA T 540 PASS - Del - 26 1 CHK2 child 21_31885038_TACTAAAGCTTCTAGAATTTTATAGGAT_CHK2 26 >=10 0 - 0 - None 842ad6d4-3272-11e6-8f62-6fa664f80bad 7_45136154_TACT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 7 45136154 TAC T 480 PASS TBRG4 Del downstream 2 5 EXO1 parent 7_45136154_TACT_EXO1 2 2 2 AC 4 AC Repeat-mediated 842c1d64-3326-11e6-a8ef-bb593dc9300a 2_231604219_CCT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 2 231604219 C CT 480 PASS CAB39 Ins intronic 1 7 CHK2 child 2_231604219_CCT_CHK2 1 1 - - - - Ins 842cfc98-3254-11e6-9f9d-2c7a7872c165 12_64756526_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 64756526 TA T 540 PASS C12orf56 Del intronic 1 7 MSH6 child 12_64756526_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 842dc4fa-3283-11e6-bb60-c21d694da5d2 6_51530483_GTCG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 6 51530483 GTC G 300 PASS PKHD1 Del intronic 2 2 NEIL1 child 6_51530483_GTCG_NEIL1 2 2 2 TC 1 TC Repeat-mediated 84406e3c-328a-11e6-b805-77090e01a414 2_81969021_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 81969021 GT G 420 PASS - Del - 1 9 MSH6 child 2_81969021_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 8443f3f8-3272-11e6-bfb2-2749c225ee11 12_11676714_ATGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 11676714 ATG A 563 PASS - Del - 2 7 MSH6 child 12_11676714_ATGA_MSH6 2 2 2 TG 6 TG Repeat-mediated 844dc368-3256-11e6-a304-347a7872c165 1_205605316_ATTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 205605316 ATT A 300 PASS ELK4 Del upstream 2 9 MSH6 child 1_205605316_ATTA_MSH6 2 2 2 TT 7 T Repeat-mediated 844f2f30-3285-11e6-8b67-086ea2c71c31 1_92784340_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 92784340 TA T 480 PASS RPAP2 Del intronic 1 7 MSH6 child 1_92784340_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 846d7bc8-3278-11e6-bb6d-38aec042253c 3_106852188_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 3 106852188 AT A 360 PASS LINC00882 Del intronic 1 9 CHK2 child 3_106852188_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 8479f8e0-3286-11e6-a21c-b819bce6aa09 X_36230652_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 36230652 AT A 360 PASS - Del - 1 9 MSH6 child X_36230652_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 84884bfa-3292-11e6-9401-04ed6f39e758 3_179632738_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 179632738 TA T 300 PASS PEX5L Del intronic 1 9 MSH6 child 3_179632738_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 84942e66-328d-11e6-8770-3e160e01a414 9_131985391_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 131985391 CT C 300 PASS - Del - 1 9 MSH6 child 9_131985391_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 84949f06-3321-11e6-aa01-c73272d7bc54 12_81122080_GATAAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 12 81122080 GATAA G 480 PASS - Del - 4 1 EXO1 child 12_81122080_GATAAG_EXO1 4 4 3 ATA 0 - Microhomology-mediated 8496a4a6-3284-11e6-83b0-2c6e0d016689 2_86012605_GCG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 86012605 GC G 720 PASS ATOH8 Del intronic 1 3 EXO1 child 2_86012605_GCG_EXO1 1 1 1 C 2 C Repeat-mediated 84a0a7d8-328b-11e6-aa75-90c36f39e758 13_20258868_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 20258868 GA G 600 PASS - Del - 1 4 MSH6 child 13_20258868_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 84a2a1de-3289-11e6-a32d-75090e01a414 14_35409693_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 35409693 TA T 480 PASS - Del - 1 8 MSH6 child 14_35409693_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 84ab65a4-328d-11e6-8dad-8fe0191589db 21_31624862_CTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 21 31624862 CT C 480 PASS - Del - 1 9 FANCC child 21_31624862_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 84acd6f6-328c-11e6-b9c4-751d0e01a414 5_18139733_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 18139733 CT C 360 PASS - Del - 1 6 MSH6 child 5_18139733_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 84b7cc24-3290-11e6-919e-92c36f39e758 2_80976353_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 80976353 G GT 660 PASS AC084193.1 Ins intronic 1 7 MSH6 child 2_80976353_GGT_MSH6 1 1 - - - - Ins 84c53638-329b-11e6-ae71-0c5325c9da85 1_88897511_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 88897511 TA T 420 PASS - Del - 1 8 MSH6 child 1_88897511_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 84cbbede-3289-11e6-b805-77090e01a414 2_23662160_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 23662160 GT G 260 PASS KLHL29 Del intronic 1 8 MSH6 child 2_23662160_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 84ce877e-3287-11e6-b0bc-c7a46f39e758 5_124894134_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 5 124894134 GA G 300 PASS RP11-756H20.1 Del intronic 1 7 EXO1 child 5_124894134_GAG_EXO1 1 1 1 A 6 A Repeat-mediated 84ce88a0-3273-11e6-ba3c-6216cd638e3d 7_95334776_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 7 95334776 CT C 420 PASS - Del - 1 7 NEIL1 child 7_95334776_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 84d6ab04-328a-11e6-a80b-87090e01a414 11_75794740_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 75794740 AT A 720 PASS UVRAG Del intronic 1 9 MSH6 child 11_75794740_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 84dae276-3291-11e6-90b7-60a39b6d3b88 12_48657443_TAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 12 48657443 TA T 360 PASS RP11-370I10.2 Del intronic 1 7 NUDT1 child 12_48657443_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated 84db352e-3272-11e6-9b10-3e7da20b69d5 15_64506986_TGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCACACTGGTCTCAAACTCCTGACCTTGGGTGATCCGTCCTCCTCGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCATGCCTGGCCGAAACAGTTCATCGTTGTTGTTTTAAATTTATTTTCAGATTATTTTTGTAGAGATGGGGTCTATGTTGCCTACGCTGGTCTCAAACTCCTGGCCTCAAGTGACCCTCCCACCTCAGCCTCACAAAGTGCTGGGATTATAGACACGAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 15 64506986 TGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCACACTGGTCTCAAACTCCTGACCTTGGGTGATCCGTCCTCCTCGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCATGCCTGGCCGAAACAGTTCATCGTTGTTGTTTTAAATTTATTTTCAGATTATTTTTGTAGAGATGGGGTCTATGTTGCCTACGCTGGTCTCAAACTCCTGGCCTCAAGTGACCCTCCCACCTCAGCCTCACAAAGTGCTGGGATTATAGACACGA T 360 PASS CSNK1G1 Del intronic 297 1 NUDT1 child 15_64506986_TGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCACACTGGTCTCAAACTCCTGACCTTGGGTGATCCGTCCTCCTCGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCATGCCTGGCCGAAACAGTTCATCGTTGTTGTTTTAAATTTATTTTCAGATTATTTTTGTAGAGATGGGGTCTATGTTGCCTACGCTGGTCTCAAACTCCTGGCCTCAAGTGACCCTCCCACCTCAGCCTCACAAAGTGCTGGGATTATAGACACGAT_NUDT1 297 >=10 15 GCCACCATGCCTGGC 0 - Microhomology-mediated 84dc024a-3256-11e6-885f-d1947872c165 4_27862672_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 27862672 AT A 300 PASS - Del - 1 8 MSH6 child 4_27862672_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 84e10cba-329f-11e6-94ca-0aaecc638e3d X_127514724_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 127514724 TA T 720 PASS RP1-30E17.2 Del intronic 1 8 MSH6 child X_127514724_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 84e24436-3286-11e6-a21c-b819bce6aa09 X_36836143_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 36836143 GA G 540 PASS - Del - 1 8 MSH6 child X_36836143_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 84e45b6a-329d-11e6-ae71-0c5325c9da85 1_212936718_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 212936718 GA G 720 PASS NSL1 Del intronic 1 9 MSH6 child 1_212936718_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 84f0a17a-3277-11e6-a862-bc9becf1e924 1_79069188_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 79069188 C CT 360 PASS - Ins - 1 7 MSH6 child 1_79069188_CCT_MSH6 1 1 - - - - Ins 84f1eff8-326d-11e6-9793-9a8fb0dab373 13_84545935_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 84545935 GA G 300 PASS - Del - 1 8 MSH6 child 13_84545935_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 84f3be46-3326-11e6-9918-868d0322d171 7_144634097_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 7 144634097 AT A 840 PASS - Del - 1 7 EXO1 child 7_144634097_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 84f9d1e0-328c-11e6-b9c4-751d0e01a414 5_18291900_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 18291900 CA C 300 PASS - Del - 1 9 MSH6 child 5_18291900_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 84fbc43c-329b-11e6-a5cf-205325c9da85 11_105264500_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 105264500 CA C 420 PASS RP11-94P11.4 Del intronic 1 4 MSH6 child 11_105264500_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 8505d6fc-3273-11e6-a3dd-600b4ec77248 2_4522105_AAAAACA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 2 4522105 AAAAAC A 480 PASS - Del - 5 1 EXO1 child 2_4522105_AAAAACA_EXO1 5 5 3 AAA 0 - Microhomology-mediated 8506eef6-325b-11e6-8b28-55ad7872c165 20_62860797_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 62860797 TA T 720 PASS MYT1 Del intronic 1 9 MSH6 child 20_62860797_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 851259dc-3277-11e6-a71d-236235cec73b X_120207655_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 120207655 CT C 480 PASS - Del - 1 8 MSH6 child X_120207655_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 851934b6-3284-11e6-b1ba-6def1da8ec0e 1_49782605_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 49782605 TA T 300 PASS AGBL4 Del intronic 1 8 EXO1 child 1_49782605_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 851bae34-3280-11e6-9d9d-e3b4e7d0bdd7 2_17310878_ACA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 2 17310878 AC A 300 PASS - Del - 1 1 FANCC child 2_17310878_ACA_FANCC 1 1 0 - 0 C None 851e69d4-3281-11e6-b9fb-4420bce6aa09 9_85287120_CTGTTTGTTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 9 85287120 CTGTTTGTT C 600 PASS - Del - 8 5 POLM child 9_85287120_CTGTTTGTTC_POLM 8 8 8 TGTTTGTT 3 TGTT Repeat-mediated 8522b77c-3273-11e6-a730-4d5190e2c2e6 13_65744325_GTG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 13 65744325 GT G 300 PASS - Del - 1 7 POLB child 13_65744325_GTG_POLB 1 1 1 T 6 T Repeat-mediated 8526e4f0-3282-11e6-9f9b-29bd9b6d3b88 11_21875212_AAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 21875212 A AT 360 PASS - Ins - 1 6 EXO1 child 11_21875212_AAT_EXO1 1 1 - - - - Ins 8528b6c0-3284-11e6-b8a8-aac02daed38e 8_85647195_AATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 8 85647195 AAT A 420 PASS RALYL Del intronic 2 6 POLB child 8_85647195_AATA_POLB 2 2 2 AT 5 AT Repeat-mediated 852bd78c-3285-11e6-a0a8-096ea2c71c31 11_107450324_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 107450324 TA T 480 PASS - Del - 1 9 MSH6 child 11_107450324_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 852c8f8a-3283-11e6-baa3-81ed1da8ec0e X_31030179_GAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 31030179 GA G 360 PASS - Del - 1 5 EXO1 child X_31030179_GAG_EXO1 1 1 1 A 4 A Repeat-mediated 85303ae2-3286-11e6-afcf-0311bce6aa09 9_88319865_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 88319865 GA G 600 PASS AGTPBP1 Del intronic 1 8 MSH6 child 9_88319865_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8530532a-3253-11e6-89d3-d29498816cf3 2_5595279_TACT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 5595279 TAC T 540 PASS - Del - 2 6 MSH6 child 2_5595279_TACT_MSH6 2 2 2 AC 5 AC Repeat-mediated 853e2686-3284-11e6-9546-b5936f39e758 15_61670423_TCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 61670423 TC T 360 PASS RP11-507B12.2 Del intronic 1 6 EXO1 child 15_61670423_TCT_EXO1 1 1 1 C 5 C Repeat-mediated 8540be3e-3273-11e6-b8ae-92c57872c165 14_91938976_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 91938976 AT A 420 PASS SMEK1 Del intronic 1 8 MSH6 child 14_91938976_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 854e89b8-3275-11e6-8d20-7365cde16804 5_170963143_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 170963143 GA G 420 PASS - Del - 1 6 MSH6 parent 5_170963143_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 8550afba-329b-11e6-ae71-0c5325c9da85 1_88982816_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 88982816 TA T 644 PASS - Del - 1 9 MSH6 child 1_88982816_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8554529e-3289-11e6-aa70-b0b3cc638e3d 19_16183514_TCAGGAGTTCGAGACCAGCCTGGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAACTGGGCTTGGTGGCATGAGCCTGTAATCCCAGCTACTAGGGAGGTTGAGGCAGGAGAAGCACTTGAGCCAGGGAGGTGGAAGTTGCAGTGAGCTGAGATCCAGCCACTACACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAATATATCAAAACAAATTGTAACACGCCCAACACATTCTAAATGCCAGATAGCCCCCTGTCGGCCTTATCCCTGTCCTCACATGTTCTTGCCCAAACATTTCCCCCAAAAAAGTAGTCAAAACCCCAAACCAAACAAAAAAACCCCAAACCAGCCAGGTGGGGTGGCTCATGCCTGTTGTCCCAGCTACTCGGGAGGCTGAAGTGGGAGGATCCCTTGAGCCT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 19 16183514 TCAGGAGTTCGAGACCAGCCTGGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAACTGGGCTTGGTGGCATGAGCCTGTAATCCCAGCTACTAGGGAGGTTGAGGCAGGAGAAGCACTTGAGCCAGGGAGGTGGAAGTTGCAGTGAGCTGAGATCCAGCCACTACACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAATATATCAAAACAAATTGTAACACGCCCAACACATTCTAAATGCCAGATAGCCCCCTGTCGGCCTTATCCCTGTCCTCACATGTTCTTGCCCAAACATTTCCCCCAAAAAAGTAGTCAAAACCCCAAACCAAACAAAAAAACCCCAAACCAGCCAGGTGGGGTGGCTCATGCCTGTTGTCCCAGCTACTCGGGAGGCTGAAGTGGGAGGATCCCTTGAGCC T 300 PASS TPM4 Del upstream 428 1 NUDT1 child 19_16183514_TCAGGAGTTCGAGACCAGCCTGGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAACTGGGCTTGGTGGCATGAGCCTGTAATCCCAGCTACTAGGGAGGTTGAGGCAGGAGAAGCACTTGAGCCAGGGAGGTGGAAGTTGCAGTGAGCTGAGATCCAGCCACTACACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAATATATCAAAACAAATTGTAACACGCCCAACACATTCTAAATGCCAGATAGCCCCCTGTCGGCCTTATCCCTGTCCTCACATGTTCTTGCCCAAACATTTCCCCCAAAAAAGTAGTCAAAACCCCAAACCAAACAAAAAAACCCCAAACCAGCCAGGTGGGGTGGCTCATGCCTGTTGTCCCAGCTACTCGGGAGGCTGAAGTGGGAGGATCCCTTGAGCCT_NUDT1 428 >=10 22 CAGGAGTTCGAGACCAGCCTGG 0 - Microhomology-mediated 8558dc5c-3274-11e6-be3d-925130158702 1_227781952_TTA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 1 227781952 T TA 480 PASS ZNF678 Ins intronic 1 1 POLB child 1_227781952_TTA_POLB 1 1 - - - - Ins 8563308e-3284-11e6-a0a8-096ea2c71c31 11_15515947_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 15515947 CA C 300 PASS - Del - 1 8 MSH6 child 11_15515947_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 85639800-325a-11e6-8340-da9012ae24cf 6_143623320_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 143623320 AT A 283 PASS AIG1 Del intronic 1 7 MSH6 child 6_143623320_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 856a22a4-3270-11e6-a539-0e5542c4520d 7_109359908_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 109359908 AC A 292 PASS - Del - 1 5 MSH6 child 7_109359908_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 856c6648-3321-11e6-98d8-e3f9cf737e61 17_45464046_CAC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 17 45464046 CA C 360 PASS EFCAB13 Del intronic 1 9 EXO1 child 17_45464046_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 858110e6-3323-11e6-92f7-2fa7f7be831b 7_6036222_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 7 6036222 AT A 300 PASS PMS2 Del intronic 1 1 CHK2 child 7_6036222_ATA_CHK2 1 1 0 - 0 T None 8586ff80-329f-11e6-91d0-016425c9da85 7_122147158_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 122147158 TA T 720 PASS CADPS2 Del intronic 1 8 MSH6 child 7_122147158_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8589808a-3271-11e6-b923-6726694da5d2 5_150215737_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 150215737 CT C 300 PASS - Del - 1 9 MSH6 child 5_150215737_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 858ef944-328e-11e6-bfa2-581f0e01a414 7_107724925_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 107724925 AT A 540 PASS LAMB4 Del intronic 1 6 MSH6 child 7_107724925_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 859e0522-3277-11e6-9e0f-7959cab49462 7_136468761_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 136468761 CT C 600 PASS - Del - 1 9 MSH6 child 7_136468761_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 85a44018-328b-11e6-b4fe-93c36f39e758 12_1018421_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 1018421 CT C 420 PASS WNK1 Del 3prime_UTR_variant 1 8 MSH6 child 12_1018421_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 85a79770-3288-11e6-a21c-b819bce6aa09 X_56484601_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 56484601 G GT 300 PASS - Ins - 1 6 MSH6 child X_56484601_GGT_MSH6 1 1 - - - - Ins 85a79bb0-329e-11e6-8c2e-3f6625c9da85 22_34108204_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 34108204 GA G 540 PASS LARGE Del intronic 1 9 MSH6 child 22_34108204_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 85adf360-3272-11e6-8f33-a6d9cde16804 11_14770380_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 14770380 TA T 720 PASS PDE3B Del intronic 1 7 MSH6 child 11_14770380_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 85b49ff8-3272-11e6-b8ae-92c57872c165 14_27459796_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 27459796 AT A 420 PASS RP11-384J4.2 Del intronic 1 5 MSH6 child 14_27459796_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 85b7a018-3286-11e6-afcf-0311bce6aa09 9_88550530_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 88550530 AT A 480 PASS - Del - 1 6 MSH6 child 9_88550530_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 85ba0ef0-328d-11e6-b9c4-751d0e01a414 5_81173774_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 81173774 CA C 360 PASS - Del - 1 6 MSH6 child 5_81173774_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 85bb11c2-3276-11e6-83cd-a472a178171f 4_108255913_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 108255913 AC A 540 PASS - Del - 1 5 MSH6 child 4_108255913_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 85c36cb8-328b-11e6-8fa6-65cc977b3f23 15_25370767_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 15 25370767 AT A 660 PASS - Del - 1 9 NEIL1 child 15_25370767_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated 85c4aa86-32a1-11e6-a04f-c66a25c9da85 6_146330228_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 146330228 CT C 420 PASS - Del - 1 9 MSH6 child 6_146330228_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 85cc4ec4-3348-11e6-a997-309d38e8a824 4_19591829_GTCACCG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 19591829 GTCACC G 540 PASS RP11-608O21.1 Del intronic 5 1 FANCC child 4_19591829_GTCACCG_FANCC 5 5 1 T 0 - Microhomology-mediated 85cef88c-3293-11e6-b963-13387a852e0e 3_24442880_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 3 24442880 CT C 360 PASS THRB Del intronic 1 7 CHK2 child 3_24442880_CTC_CHK2 1 1 1 T 6 T Repeat-mediated 85d08b3e-3284-11e6-a0a8-096ea2c71c31 11_15802047_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 15802047 GA G 1020 PASS - Del - 1 7 MSH6 child 11_15802047_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 85d11b60-3277-11e6-a2b7-2d8b671699ea 21_23075821_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 23075821 T TA 480 PASS - Ins - 1 6 MSH6 child 21_23075821_TTA_MSH6 1 1 - - - - Ins 85dce5c4-3283-11e6-9126-22f0137bb207 14_68759934_GGT . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 14 68759934 G GT 360 PASS RAD51B Ins intronic 1 7 FANCC child 14_68759934_GGT_FANCC 1 1 - - - - Ins 85e12b1e-3271-11e6-8418-1c5942c4520d 3_148718869_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 148718869 CA C 300 PASS GYG1 Del intronic 1 7 MSH6 child 3_148718869_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 85e2e0fc-3286-11e6-8404-8e1fbce6aa09 8_4434670_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 4434670 GT G 600 PASS CSMD1 Del intronic 1 8 MSH6 child 8_4434670_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 85e5bfda-3276-11e6-ab69-1c1607e9a829 9_140856725_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 140856725 CT C 480 PASS CACNA1B Del intronic 1 9 MSH6 child 9_140856725_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 85eeb6f4-3289-11e6-85b3-df4bcf376b51 15_55468345_CAGC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 15 55468345 CAG C 360 PASS RSL24D1 Del downstream 2 2 NUDT1 child 15_55468345_CAGC_NUDT1 2 2 2 AG 1 AG Repeat-mediated 85f69062-3271-11e6-aca7-e2b6dcd214c4 5_32265578_ATA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 5 32265578 AT A 660 PASS MTMR12 Del intronic 1 2 POLM child 5_32265578_ATA_POLM 1 1 1 T 1 T Repeat-mediated 85f732e4-3274-11e6-8607-751ad9b4fa2c 22_41242842_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 41242842 CA C 600 PASS ST13 Del intronic 1 7 MSH6 child 22_41242842_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 85f8876a-32a2-11e6-b970-398625c9da85 20_9985075_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 9985075 CA C 360 PASS RP5-839B4.8 Del intronic 1 8 MSH6 child 20_9985075_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 85f90df4-329b-11e6-b74d-b59fcc638e3d 18_29177698_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 29177698 C CT 720 PASS TTR Ins intronic 1 1 MSH6 child 18_29177698_CCT_MSH6 1 1 - - - - Ins 860237a4-3254-11e6-8831-5505ee3c4f5d 1_235788536_CCTTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 1 235788536 CCTT C 720 PASS GNG4 Del intronic 3 2 POLB child 1_235788536_CCTTC_POLB 3 3 3 CTT 1 CTT Repeat-mediated 8602da54-3256-11e6-89d3-d29498816cf3 2_67284987_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 67284987 G GA 300 PASS - Ins - 1 8 MSH6 child 2_67284987_GGA_MSH6 1 1 - - - - Ins 86061af6-3270-11e6-9d19-c216987b3f23 21_19943962_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 19943962 TA T 360 PASS AL109763.2 Del intronic 1 9 MSH6 child 21_19943962_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 86082082-3291-11e6-9401-04ed6f39e758 3_110090381_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 110090381 TA T 300 PASS - Del - 1 8 MSH6 child 3_110090381_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 86088a28-3277-11e6-8c34-46e27872c165 5_152314791_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 152314791 TA T 600 PASS AC091969.1 Del intronic 1 9 MSH6 child 5_152314791_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 860b51da-3273-11e6-9a64-c45720e7b7a8 16_4178739_AAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 16 4178739 A AT 480 PASS - Ins - 1 5 NUDT1 child 16_4178739_AAT_NUDT1 1 1 - - - - Ins 8610be4a-3287-11e6-9c2b-e85751c54cdd 9_114680815_CTC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 9 114680815 CT C 840 PASS UGCG Del intronic 1 8 EXO1 child 9_114680815_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 86143706-3281-11e6-a1d1-b18df4b7c17d 1_163697052_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 163697052 GA G 300 PASS - Del - 1 9 FANCC child 1_163697052_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 8616864a-3287-11e6-a21c-b819bce6aa09 X_93174059_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 93174059 GA G 720 PASS - Del - 1 8 MSH6 child X_93174059_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 861718fa-329e-11e6-bc2c-2a5e25c9da85 4_104825332_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 104825332 TG T 840 PASS - Del - 1 1 MSH6 child 4_104825332_TGT_MSH6 1 1 0 - 0 G None 861a0796-3270-11e6-aa96-e6b97872c165 15_81345621_ACCTA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 15 81345621 ACCT A 600 PASS - Del - 3 1 NEIL1 child 15_81345621_ACCTA_NEIL1 3 3 2 CC 0 - Microhomology-mediated 8621ed46-3287-11e6-bb85-03a66f39e758 4_84588280_GACG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 84588280 GAC G 300 PASS RP11-767N15.1 Del downstream 2 2 EXO1 child 4_84588280_GACG_EXO1 2 2 2 AC 1 AC Repeat-mediated 86221982-3292-11e6-9432-c0e56f39e758 5_103344697_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 103344697 G GA 600 PASS - Ins - 1 3 MSH6 child 5_103344697_GGA_MSH6 1 1 - - - - Ins 863a0ba6-3287-11e6-a21c-b819bce6aa09 X_93221930_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 93221930 AT A 540 PASS - Del - 1 8 MSH6 child X_93221930_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 863a9512-3273-11e6-a862-bc9becf1e924 1_69762064_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 69762064 GT G 720 PASS - Del - 1 9 MSH6 child 1_69762064_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 863bf446-3289-11e6-b093-c9c7b0dab373 2_184129210_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 184129210 G GT 550 PASS - Ins - 1 1 MSH6 child 2_184129210_GGT_MSH6 1 1 - - - - Ins 86418824-3325-11e6-ba0a-ab9864f80bad 5_132466843_AGA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 5 132466843 AG A 300 PASS - Del - 1 1 EXO1 child 5_132466843_AGA_EXO1 1 1 0 - 0 G None 86429aa8-3293-11e6-9ea6-6ee2977b3f23 8_102670061_AAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 8 102670061 A AC 480 PASS GRHL2 Ins intronic 1 1 NEIL1 child 8_102670061_AAC_NEIL1 1 1 - - - - Ins 86440af0-3270-11e6-99d7-8212987b3f23 10_114345150_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 10 114345150 CT C 660 PASS VTI1A Del intronic 1 9 NUDT1 child 10_114345150_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 86462f30-3273-11e6-abaf-4642cab49462 6_135270800_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 135270800 CA C 420 PASS ALDH8A1 Del intronic 1 9 MSH6 child 6_135270800_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 86479734-3323-11e6-bc94-01ed0322d171 16_63693106_TTA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 16 63693106 T TA 780 PASS - Ins - 1 0 EXO1 child 16_63693106_TTA_EXO1 1 1 - - - - Ins 864b2912-326f-11e6-b5b8-e0c24a47a305 X_47488889_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 47488889 TC T 480 PASS CFP Del intronic 1 7 MSH6 child X_47488889_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 864bb14e-326e-11e6-bfba-13bf4a47a305 9_7876528_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 7876528 AT A 540 PASS - Del - 1 3 MSH6 child 9_7876528_ATA_MSH6 1 1 1 T 2 T Repeat-mediated 864be556-3287-11e6-9766-8c8ca2c71c31 22_39231933_GCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 39231933 GC G 780 PASS NPTXR Del intronic 1 7 MSH6 child 22_39231933_GCG_MSH6 1 1 1 C 6 C Repeat-mediated 864fc64a-3272-11e6-bfb2-2749c225ee11 12_12152745_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 12152745 AT A 480 PASS - Del - 1 7 MSH6 child 12_12152745_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8655dc20-328a-11e6-b805-77090e01a414 2_82717255_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 82717255 AT A 540 PASS AC010105.1 Del intronic 1 9 MSH6 child 2_82717255_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 865df4da-3282-11e6-b857-6115038949d4 5_12472603_CAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 5 12472603 CA C 480 PASS - Del - 1 6 POLM child 5_12472603_CAC_POLM 1 1 1 A 5 A Repeat-mediated 865ec05c-3284-11e6-a8af-066ea2c71c31 15_27229368_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 27229368 CT C 540 PASS GABRG3 Del intronic 1 9 MSH6 child 15_27229368_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8667fd7c-328c-11e6-bec1-ca1d0e01a414 X_14639459_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 14639459 TA T 300 PASS GLRA2 Del intronic 1 4 MSH6 child X_14639459_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 8668e22e-3290-11e6-b77d-2eef6f39e758 6_7078009_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 7078009 GA G 540 PASS - Del - 1 8 MSH6 child 6_7078009_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 866c54f0-328f-11e6-9d24-ade56f39e758 7_65399746_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 65399746 TA T 780 PASS VKORC1L1 Del intronic 1 8 MSH6 child 7_65399746_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 866fa200-3289-11e6-b30e-eb4590e2c2e6 8_134975582_CAGC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 8 134975582 CAG C 540 PASS - Del - 2 3 POLE child 8_134975582_CAGC_POLE 2 2 2 AG 2 AG Repeat-mediated 8677d538-3289-11e6-94b1-74090e01a414 17_13793665_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 13793665 CA C 360 PASS - Del - 1 6 MSH6 child 17_13793665_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 867f5d10-3295-11e6-9985-7c540d016689 6_84538422_TAGT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 84538422 TAG T 720 PASS - Del - 2 2 NUDT1 child 6_84538422_TAGT_NUDT1 2 2 2 AG 1 AG Repeat-mediated 8682d8a0-3290-11e6-92cf-bf2a0e01a414 6_110402076_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 110402076 TA T 300 PASS - Del - 1 8 MSH6 child 6_110402076_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 868b6c9c-3284-11e6-9e78-7d3e51c54cdd 2_40579135_AAGA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 40579135 AAG A 420 PASS SLC8A1 Del intronic 2 1 EXO1 child 2_40579135_AAGA_EXO1 2 2 0 - 0 - None 86941634-3271-11e6-8d14-21dfd7fd0a58 19_1572423_GTG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 19 1572423 GT G 600 PASS MEX3D Del upstream 1 9 NEIL1 child 19_1572423_GTG_NEIL1 1 1 1 T 8 T Repeat-mediated 8694cdf8-3286-11e6-afcf-0311bce6aa09 9_88810612_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 88810612 CT C 360 PASS - Del - 1 9 MSH6 child 9_88810612_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8697aede-328f-11e6-94e1-63e1191589db 3_153739478_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 153739478 CA C 360 PASS - Del - 1 9 FANCC child 3_153739478_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 869be068-3270-11e6-b5b8-e0c24a47a305 X_63960732_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 63960732 GA G 360 PASS - Del - 1 5 MSH6 child X_63960732_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 869ee360-3272-11e6-83ef-69fb06e9a829 18_8403574_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 8403574 TA T 420 PASS PTPRM Del intronic 1 9 MSH6 child 18_8403574_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 86a89eea-328c-11e6-b9c4-751d0e01a414 5_18722537_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 18722537 CA C 900 PASS CTD-2023M8.1 Del intronic 1 9 MSH6 child 5_18722537_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 86ad1d60-3275-11e6-8c15-5448694da5d2 5_83691341_CTC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 5 83691341 CT C 660 PASS - Del - 1 9 NEIL1 child 5_83691341_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated 86b3121e-328a-11e6-a32d-75090e01a414 14_95546886_TAGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 95546886 TAG T 360 PASS - Del - 2 2 MSH6 child 14_95546886_TAGT_MSH6 2 2 2 AG 1 AG Repeat-mediated 86b8794a-3274-11e6-9dd4-a3463adbad45 15_83885245_CTTGTTAC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 15 83885245 CTTGTTA C 360 PASS - Del - 6 2 CHK2 child 15_83885245_CTTGTTAC_CHK2 6 6 6 TTGTTA 1 TTGTTA Repeat-mediated 86bdca0e-32a0-11e6-bc66-17b4cc638e3d 8_114472007_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 114472007 TA T 420 PASS - Del - 1 7 MSH6 child 8_114472007_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 86c7c0d8-328f-11e6-9230-fb250e01a414 3_108580489_ATCTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 108580489 ATCT A 360 PASS - Del - 3 2 MSH6 child 3_108580489_ATCTA_MSH6 3 3 3 TCT 1 TCT Repeat-mediated 86c8e9c6-329f-11e6-94ca-0aaecc638e3d X_128282273_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 128282273 CT C 360 PASS - Del - 1 8 MSH6 child X_128282273_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 86c973ea-3327-11e6-9f5d-eba78a20d9eb 8_57555494_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 57555494 GA G 660 PASS RP11-17A4.4 Del intronic 1 8 EXO1 child 8_57555494_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 86d0c124-328a-11e6-aff5-85090e01a414 16_70135823_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 70135823 GA G 417 PASS - Del - 1 9 MSH6 child 16_70135823_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 86d28f1c-327c-11e6-b10f-b842a20b69d5 9_98009764_AAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 9 98009764 A AT 660 PASS FANCC Ins frameshift 1 1 FANCC parent 9_98009764_AAT_FANCC 1 1 - - - - Ins 86d4594a-3278-11e6-92d2-c259c225ee11 3_161933258_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 161933258 CT C 300 PASS - Del - 1 8 MSH6 child 3_161933258_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 86d5bd82-3276-11e6-83cd-a472a178171f 4_108721736_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 108721736 GA G 480 PASS - Del - 1 9 MSH6 child 4_108721736_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 86e5702c-3273-11e6-a862-bc9becf1e924 1_70012488_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 70012488 GT G 420 PASS - Del - 1 8 MSH6 child 1_70012488_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 86e6b550-3272-11e6-b8ae-92c57872c165 14_27848856_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 27848856 AT A 540 PASS - Del - 1 7 MSH6 child 14_27848856_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 86ecf43e-3285-11e6-99f7-076ea2c71c31 12_97509033_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 97509033 TA T 488 PASS RP11-541G9.1 Del intronic 1 9 MSH6 child 12_97509033_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 86f56f86-3273-11e6-abaf-4642cab49462 6_135501240_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 135501240 GA G 360 PASS MYB Del upstream 1 9 MSH6 child 6_135501240_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 86fb338e-3292-11e6-8d18-13cc0d01a414 20_52541363_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 52541363 TA T 540 PASS - Del - 1 8 MSH6 child 20_52541363_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 86ff9fe0-3289-11e6-a7cf-80090e01a414 15_29655794_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 29655794 TA T 360 PASS FAM189A1 Del intronic 1 7 MSH6 child 15_29655794_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8706355e-3256-11e6-bb62-81f712ae24cf X_127785471_ATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA X 127785471 AT A 540 PASS - Del - 1 9 POLB child X_127785471_ATA_POLB 1 1 1 T 8 T Repeat-mediated 87070748-3276-11e6-abaf-4642cab49462 6_167657465_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 167657465 C CA 393 PASS RP11-568A7.3 Ins upstream 1 8 MSH6 child 6_167657465_CCA_MSH6 1 1 - - - - Ins 870e5ee6-3288-11e6-a8ac-a28ea2c71c31 3_81867544_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 81867544 AT A 300 PASS - Del - 1 9 MSH6 child 3_81867544_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 871b1546-3279-11e6-a391-f6d67d6a9fc7 6_141829044_CTGC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 141829044 CTG C 360 PASS - Del - 2 7 MSH6 child 6_141829044_CTGC_MSH6 2 2 2 TG 6 TG Repeat-mediated 871b601a-3322-11e6-894d-4bcc12ae24cf 11_125613033_TACT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 11 125613033 TAC T 540 PASS PATE1 Del upstream 2 6 EXO1 child 11_125613033_TACT_EXO1 2 2 2 AC 5 AC Repeat-mediated 8724137c-3273-11e6-a5d0-4fd14a47a305 2_97888602_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 97888602 AT A 561 PASS ANKRD36 Del intronic 1 7 MSH6 child 2_97888602_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8728ba18-329a-11e6-bda6-065325c9da85 13_59826539_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 59826539 TG T 540 PASS - Del - 1 7 MSH6 child 13_59826539_TGT_MSH6 1 1 1 G 6 G Repeat-mediated 872d5be0-3290-11e6-9d97-efe56f39e758 4_129933164_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 129933164 GT G 420 PASS SCLT1 Del intronic 1 7 MSH6 child 4_129933164_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 87337040-3270-11e6-b89d-b2d6b0dab373 4_68078160_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 68078160 CA C 660 PASS - Del - 1 8 MSH6 child 4_68078160_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 873f30fa-3276-11e6-83cd-a472a178171f 4_108834396_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 108834396 AT A 540 PASS SGMS2 Del 3prime_UTR_variant 1 8 MSH6 child 4_108834396_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8743b196-3273-11e6-9dfc-541498ba1142 8_119623552_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 8 119623552 GA G 600 PASS SAMD12 Del intronic 1 8 EXO1 parent 8_119623552_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 874628bc-326f-11e6-b923-6726694da5d2 5_4952022_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 4952022 AC A 480 PASS - Del - 1 6 MSH6 child 5_4952022_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 8747ec60-3256-11e6-9d15-298312ae24cf X_24345291_AGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 24345291 AG A 840 PASS - Del - 1 6 MSH6 child X_24345291_AGA_MSH6 1 1 1 G 5 G Repeat-mediated 87529a18-328b-11e6-8952-77c36f39e758 10_1860681_ATGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 1860681 ATG A 600 PASS - Del - 2 7 MSH6 child 10_1860681_ATGA_MSH6 2 2 2 TG 6 TG Repeat-mediated 87581928-328d-11e6-9dfc-339fe7d0bdd7 5_82400231_GAG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 5 82400231 GA G 780 PASS XRCC4 Del intronic 1 7 POLM child 5_82400231_GAG_POLM 1 1 1 A 6 A Repeat-mediated 87597a72-3277-11e6-998e-ba48fa52e078 8_146130791_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 146130791 GT G 480 PASS ZNF250 Del upstream 1 8 MSH6 child 8_146130791_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 875ad954-3294-11e6-b14c-5e337a852e0e X_124877237_CAC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 124877237 CA C 360 PASS - Del - 1 8 CHK2 child X_124877237_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 875c2b3a-3346-11e6-b5ef-938f38e8a824 13_100530387_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 13 100530387 TA T 480 PASS CLYBL Del intronic 1 9 FANCC child 13_100530387_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 875d135e-3285-11e6-99f7-076ea2c71c31 12_97665273_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 97665273 CA C 780 PASS RP11-541G9.2 Del downstream 1 6 MSH6 child 12_97665273_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 876c146e-3279-11e6-a71d-236235cec73b X_138950112_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 138950112 T TA 360 PASS ATP11C Ins intronic 1 6 MSH6 child X_138950112_TTA_MSH6 1 1 - - - - Ins 877a78ee-3272-11e6-a5d0-4fd14a47a305 2_12130501_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 12130501 AT A 420 PASS AC096559.1 Del intronic 1 9 MSH6 child 2_12130501_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 877a9e28-3290-11e6-9432-c0e56f39e758 5_137711075_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 137711075 AT A 465 PASS KDM3B Del intronic 1 9 MSH6 child 5_137711075_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 877c79d4-3275-11e6-ab69-1c1607e9a829 9_77373324_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 77373324 GA G 720 PASS TRPM6 Del intronic 1 8 MSH6 child 9_77373324_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 877e072a-329a-11e6-ae71-0c5325c9da85 1_31333120_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 31333120 CT C 1080 PASS - Del - 1 5 MSH6 child 1_31333120_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 8781c09c-3289-11e6-821d-8c090e01a414 13_33356450_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 33356450 AT A 660 PASS PDS5B Del downstream 1 6 MSH6 child 13_33356450_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 87862de8-3253-11e6-a03d-40f212ae24cf 18_1525096_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 1525096 TA T 480 PASS RP11-476K15.1 Del intronic 1 8 MSH6 child 18_1525096_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 87945506-3273-11e6-bfb2-2749c225ee11 12_79136925_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 79136925 GT G 300 PASS - Del - 1 9 MSH6 child 12_79136925_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 879b460c-3293-11e6-9230-fb250e01a414 3_170779954_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 170779954 G GT 660 PASS TNIK Ins 3prime_UTR_variant 1 7 MSH6 child 3_170779954_GGT_MSH6 1 1 - - - - Ins 879ee7e6-3291-11e6-b81f-4ee66f39e758 8_127933632_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 127933632 AT A 600 PASS PCAT1 Del intronic 1 9 MSH6 child 8_127933632_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 87a14be6-328a-11e6-a75f-859bcdacbbbf 9_9540658_GTG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 9 9540658 GT G 360 PASS PTPRD Del intronic 1 4 FANCC child 9_9540658_GTG_FANCC 1 1 1 T 3 T Repeat-mediated 87a25ae8-3287-11e6-9a8e-d2b1f6dffcf6 1_81290396_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 81290396 CT C 1020 PASS - Del - 1 7 NUDT1 parent 1_81290396_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 87aa8a98-3254-11e6-a304-347a7872c165 1_58004523_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 58004523 AC A 660 PASS DAB1 Del intronic 1 7 MSH6 child 1_58004523_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 87bcef40-3276-11e6-9e25-e58e2aaffa45 4_104004988_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 104004988 AT A 660 PASS BDH2 Del intronic 1 7 EXO1 child 4_104004988_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 87c56322-329a-11e6-9048-b49fcc638e3d 17_29144663_AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGTGGATCATGAGGTCAACAGATGGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATGGCGCCACTGCACTCCAGCATGGCGACAGAGTGAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAGTTAACTGCAGTTGTCTGTAAGTAGTAGGTTATTTTAAAACTATTTCATCTGGGCTGAGTGTGGTGGCTCATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 29144663 AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGTGGATCATGAGGTCAACAGATGGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATGGCGCCACTGCACTCCAGCATGGCGACAGAGTGAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAGTTAACTGCAGTTGTCTGTAAGTAGTAGGTTATTTTAAAACTATTTCATCTGGGCTGAGTGTGGTGGCTCAT A 300 PASS CRLF3 Del intronic 354 1 MSH6 child 17_29144663_AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGTGGATCATGAGGTCAACAGATGGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATGGCGCCACTGCACTCCAGCATGGCGACAGAGTGAGACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAGTTAACTGCAGTTGTCTGTAAGTAGTAGGTTATTTTAAAACTATTTCATCTGGGCTGAGTGTGGTGGCTCATA_MSH6 354 >=10 31 GCCTGTAATCCCAGCACTTTGGGAGGCCGAG 0 - Microhomology-mediated 87c5e678-334c-11e6-9f94-b3873cfdbd24 6_112746071_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 6 112746071 TA T 660 PASS - Del - 1 8 FANCC child 6_112746071_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 87cf320a-328e-11e6-9721-bd9fb868caf4 18_50040521_GGTA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 18 50040521 G GTA 360 PASS DCC Ins intronic 2 5 POLB child 18_50040521_GGTA_POLB 2 2 - - - - Ins 87d0d524-3293-11e6-8cb7-9de5d0959d89 10_105700972_GTG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 10 105700972 GT G 420 PASS - Del - 1 8 POLB child 10_105700972_GTG_POLB 1 1 1 T 7 T Repeat-mediated 87d19426-3281-11e6-8cf9-a42236fc2f7d 17_49512614_TTGATAAACT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 17 49512614 TTGATAAAC T 480 PASS RP11-1018N14.5 Del upstream 8 1 NUDT1 child 17_49512614_TTGATAAACT_NUDT1 8 8 2 TG 0 - Microhomology-mediated 87da9b96-3274-11e6-bde9-8c1aead19ece 10_65712520_ACA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 10 65712520 AC A 300 PASS RP11-170M17.1 Del intronic 1 3 NEIL1 child 10_65712520_ACA_NEIL1 1 1 1 C 2 C Repeat-mediated 87e32394-326d-11e6-9f48-94df41c4520d 12_73009982_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 73009982 AT A 420 PASS TRHDE Del intronic 1 7 MSH6 child 12_73009982_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 87e626cc-3275-11e6-9074-69cc19a91649 X_33068537_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA X 33068537 TA T 300 PASS DMD Del intronic 1 7 EXO1 child X_33068537_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 87ee13b2-3286-11e6-afcf-0311bce6aa09 9_89526803_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 89526803 CA C 480 PASS - Del - 1 8 MSH6 child 9_89526803_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 87ef2f2a-326f-11e6-bfba-13bf4a47a305 9_112488912_CATC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 112488912 CAT C 300 PASS PALM2 Del intronic 2 4 MSH6 child 9_112488912_CATC_MSH6 2 2 2 AT 3 AT Repeat-mediated 87f6d016-3258-11e6-b4fa-e69a7872c165 21_16094372_TTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 16094372 T TC 480 PASS - Ins - 1 1 MSH6 child 21_16094372_TTC_MSH6 1 1 - - - - Ins 8806ffb6-3273-11e6-8e5a-ca301daa6045 18_6395449_AGA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 18 6395449 AG A 360 PASS L3MBTL4 Del intronic 1 7 EXO1 child 18_6395449_AGA_EXO1 1 1 1 G 6 G Repeat-mediated 88115490-328a-11e6-9c89-8d090e01a414 1_66323369_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 66323369 AT A 300 PASS PDE4B Del intronic 1 8 MSH6 child 1_66323369_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 881766c4-3270-11e6-b5b8-e0c24a47a305 X_64547444_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 64547444 TA T 300 PASS - Del - 1 7 MSH6 child X_64547444_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8824d74e-329a-11e6-8069-175325c9da85 12_41852405_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 41852405 AT A 480 PASS PDZRN4 Del intronic 1 7 MSH6 child 12_41852405_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8825b2cc-329a-11e6-a0ea-135325c9da85 15_52774917_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 52774917 TA T 480 PASS MYO5A Del intronic 1 7 MSH6 child 15_52774917_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 882bfc88-328e-11e6-9230-fb250e01a414 3_43482957_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 43482957 GA G 300 PASS ANO10 Del intronic 1 8 MSH6 child 3_43482957_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 883086a2-3272-11e6-83ef-69fb06e9a829 18_8835988_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 8835988 CT C 780 PASS SOGA2 Del downstream 1 6 MSH6 child 18_8835988_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 8835e1fc-3285-11e6-9efa-64528e4678dd 6_88666833_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 6 88666833 TA T 720 PASS - Del - 1 6 EXO1 child 6_88666833_TAT_EXO1 1 1 1 A 5 A Repeat-mediated 88377b08-3289-11e6-a80b-87090e01a414 11_17056222_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 17056222 GA G 300 PASS - Del - 1 5 MSH6 child 11_17056222_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 884247a6-3273-11e6-b539-d702ebb8d062 7_90461807_GTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 90461807 GT G 660 PASS CDK14 Del intronic 1 9 NUDT1 child 7_90461807_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated 88456a3c-326c-11e6-b9f4-5d1d694da5d2 14_19094853_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 19094853 CA C 360 PASS - Del - 1 7 MSH6 child 14_19094853_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 8850aba0-3284-11e6-a8af-066ea2c71c31 15_28165209_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 28165209 GA G 600 PASS OCA2 Del intronic 1 7 MSH6 child 15_28165209_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 88573852-3285-11e6-b1ba-6def1da8ec0e 1_144849102_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 144849102 TA T 280 PASS PDE4DIP Del downstream 1 6 EXO1 child 1_144849102_TAT_EXO1 1 1 1 A 5 A Repeat-mediated 886e7ff8-3285-11e6-9162-c3af90e2c2e6 2_143086705_ATA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 2 143086705 AT A 540 PASS - Del - 1 9 POLE child 2_143086705_ATA_POLE 1 1 1 T 8 T Repeat-mediated 886ecee8-329b-11e6-b549-1e5325c9da85 10_101041693_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 101041693 GA G 840 PASS - Del - 1 9 MSH6 child 10_101041693_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 887402da-3275-11e6-8d20-7365cde16804 5_171897305_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 171897305 AT A 420 PASS - Del - 1 9 MSH6 parent 5_171897305_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8879facc-329e-11e6-b696-dd6225c9da85 5_91240016_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 91240016 AT A 600 PASS - Del - 1 7 MSH6 child 5_91240016_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 887a195e-3270-11e6-a539-0e5542c4520d 7_110459185_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 110459185 GA G 328 PASS IMMP2L Del intronic 1 9 MSH6 child 7_110459185_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 887fa372-329a-11e6-8d0f-075325c9da85 14_58777130_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 58777130 CA C 900 PASS ARID4A Del intronic 1 5 MSH6 child 14_58777130_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 888547ee-329c-11e6-aca6-b39fcc638e3d 2_179095847_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 179095847 CA C 540 PASS OSBPL6 Del intronic 1 5 MSH6 child 2_179095847_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 889132e2-3293-11e6-9d97-efe56f39e758 4_161963357_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 161963357 T TA 480 PASS - Ins - 1 8 MSH6 child 4_161963357_TTA_MSH6 1 1 - - - - Ins 889bb272-3323-11e6-8301-82209a696edf 18_46192107_CCT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 18 46192107 C CT 960 PASS CTIF Ins intronic 1 1 EXO1 child 18_46192107_CCT_EXO1 1 1 - - - - Ins 88a1a294-3275-11e6-ad99-592f98ba1142 1_160876953_TAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 1 160876953 TA T 780 PASS - Del - 1 7 NEIL1 child 1_160876953_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated 88a91d24-3272-11e6-b332-88ba7d6a9fc7 15_23290287_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 23290287 CA C 299 PASS - Del - 1 7 MSH6 child 15_23290287_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 88c1443a-3254-11e6-8508-6f1dee3c4f5d 5_95573372_ATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 5 95573372 AT A 480 PASS - Del - 1 7 POLB child 5_95573372_ATA_POLB 1 1 1 T 6 T Repeat-mediated 88c39dfc-329f-11e6-bc2c-2a5e25c9da85 4_168971816_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 168971816 AT A 840 PASS - Del - 1 7 MSH6 child 4_168971816_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 88c6ecf0-326d-11e6-b306-b5204b47a305 2_79317804_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 79317804 AT A 600 PASS REG1B Del upstream 1 6 MSH6 child 2_79317804_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 88c9e198-329b-11e6-a0ea-135325c9da85 15_75712720_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 75712720 CT C 660 PASS SIN3A Del intronic 1 9 MSH6 child 15_75712720_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 88ca97ec-326d-11e6-9f48-94df41c4520d 12_73347950_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 73347950 CA C 360 PASS - Del - 1 8 MSH6 child 12_73347950_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 88d020b0-329d-11e6-91d0-016425c9da85 7_5381502_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 5381502 CA C 600 PASS TNRC18 Del intronic 1 9 MSH6 child 7_5381502_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 88d150ba-3271-11e6-a7ca-da712aaffa45 17_55553323_CACAGC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 17 55553323 CACAG C 1080 PASS MSI2 Del intronic 4 1 CHK2 child 17_55553323_CACAGC_CHK2 4 4 3 ACA 0 - Microhomology-mediated 88e4d22a-3271-11e6-b89d-b2d6b0dab373 4_138208570_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 138208570 CT C 420 PASS - Del - 1 8 MSH6 child 4_138208570_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 88e8f342-3270-11e6-b4bf-85eb97ba1142 2_141225529_TGAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 141225529 TGA T 660 PASS LRP1B Del intronic 2 5 EXO1 parent 2_141225529_TGAT_EXO1 2 2 2 GA 4 GA Repeat-mediated 88ed6964-32a1-11e6-91d0-016425c9da85 7_79419885_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 79419885 C CA 600 PASS - Ins - 1 7 MSH6 child 7_79419885_CCA_MSH6 1 1 - - - - Ins 88ef17c0-3290-11e6-9d24-ade56f39e758 7_128524001_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 128524001 AG A 540 PASS - Del - 1 5 MSH6 child 7_128524001_AGA_MSH6 1 1 1 G 4 G Repeat-mediated 88f07156-3277-11e6-9ac6-2f1c25864c47 6_157948936_TTCT . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 6 157948936 TTC T 480 PASS ZDHHC14 Del intronic 2 5 POLB child 6_157948936_TTCT_POLB 2 2 2 TC 4 TC Repeat-mediated 88fbb944-3286-11e6-b093-c9c7b0dab373 2_174795260_CTTTCTTATAACACCTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 174795260 CTTTCTTATAACACCT C 1020 PASS SP3 Del intronic 15 1 MSH6 child 2_174795260_CTTTCTTATAACACCTC_MSH6 15 >=10 1 T 0 - Microhomology-mediated 88fc58da-328c-11e6-919e-92c36f39e758 2_67658795_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 67658795 AT A 600 PASS - Del - 1 7 MSH6 child 2_67658795_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 89034dc2-3280-11e6-bf44-a4f9eff7a29c 3_129383914_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 3 129383914 TA T 660 PASS TMCC1 Del intronic 1 7 POLB parent 3_129383914_TAT_POLB 1 1 1 A 6 A Repeat-mediated 891131b6-3254-11e6-aedc-3df212ae24cf 19_40114637_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 40114637 CT C 300 PASS - Del - 1 8 MSH6 child 19_40114637_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 891d9c58-3277-11e6-a5d7-eb6be7d0bdd7 6_47394833_GTTTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 6 47394833 GTTT G 660 PASS - Del - 3 5 EXO1 child 6_47394833_GTTTG_EXO1 3 3 2 TT 0 - Microhomology-mediated 892391d0-326d-11e6-9f48-94df41c4520d 12_73732875_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 73732875 TA T 360 PASS - Del - 1 4 MSH6 child 12_73732875_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 8923e632-328e-11e6-bd84-429305ad5bc4 1_86209708_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 86209708 A AT 720 PASS COL24A1 Ins intronic 1 8 MSH6 child 1_86209708_AAT_MSH6 1 1 - - - - Ins 8925afb2-3270-11e6-b89d-b2d6b0dab373 4_68619218_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 68619218 AT A 300 PASS GNRHR Del intronic 1 8 MSH6 child 4_68619218_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8927aaf4-329a-11e6-b549-1e5325c9da85 10_38213054_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 38213054 CA C 840 PASS - Del - 1 9 MSH6 child 10_38213054_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 892a4010-3287-11e6-8bbd-f88da2c71c31 21_10621063_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 10621063 CT C 614 PASS - Del - 1 6 MSH6 child 21_10621063_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 892dd2c6-329f-11e6-91d0-016425c9da85 7_123357245_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 123357245 GA G 540 PASS WASL Del intronic 1 9 MSH6 child 7_123357245_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 89326a44-3325-11e6-9459-771c630e6611 4_151672588_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 4 151672588 AT A 660 PASS LRBA Del intronic 1 9 CHK2 child 4_151672588_ATA_CHK2 1 1 1 T 8 T Repeat-mediated 8934271e-3292-11e6-a1ea-b9b6e7d0bdd7 11_107546615_ATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 11 107546615 AT A 300 PASS - Del - 1 9 NUDT1 child 11_107546615_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 894e22d6-328d-11e6-8eed-fae0191589db 22_34840292_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 22 34840292 GA G 660 PASS - Del - 1 8 FANCC child 22_34840292_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 89534ace-326d-11e6-b306-b5204b47a305 2_79603946_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 79603946 AT A 460 PASS CTNNA2 Del intronic 1 6 MSH6 child 2_79603946_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 8956a20e-3255-11e6-89d3-d29498816cf3 2_216033740_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 216033740 CA C 540 PASS - Del - 1 9 MSH6 child 2_216033740_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 895e8334-326e-11e6-bc62-6d4742c4520d 16_54249117_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 54249117 C CA 720 PASS - Ins - 1 2 MSH6 child 16_54249117_CCA_MSH6 1 1 - - - - Ins 897eb006-3290-11e6-9eb4-6cb54430f757 3_55793603_CAC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 3 55793603 CA C 600 PASS ERC2 Del intronic 1 7 POLE child 3_55793603_CAC_POLE 1 1 1 A 6 A Repeat-mediated 89872548-328f-11e6-bb1e-70e16f39e758 X_94590785_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 94590785 CA C 540 PASS - Del - 1 8 MSH6 child X_94590785_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 898773a6-3274-11e6-b332-88ba7d6a9fc7 15_87435982_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 87435982 GA G 420 PASS AGBL1 Del intronic 1 9 MSH6 child 15_87435982_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 89883b88-3279-11e6-a391-f6d67d6a9fc7 6_142948442_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 142948442 CT C 660 PASS RP11-440G9.1 Del intronic 1 7 MSH6 child 6_142948442_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 898e39f0-3320-11e6-8b89-aa119a696edf 14_44525016_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 14 44525016 AT A 420 PASS RP11-305B6.3 Del intronic 1 4 CHK2 child 14_44525016_ATA_CHK2 1 1 1 T 3 T Repeat-mediated 899a2aa2-329a-11e6-b723-b29fcc638e3d 19_34135486_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 34135486 AT A 540 PASS CHST8 Del intronic 1 9 MSH6 child 19_34135486_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 899ca412-3254-11e6-a304-347a7872c165 1_58757729_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 58757729 CT C 720 PASS - Del - 1 7 MSH6 child 1_58757729_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 89a148ac-328e-11e6-a278-48230e01a414 21_21783984_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 21783984 C CT 720 PASS - Ins - 1 7 MSH6 child 21_21783984_CCT_MSH6 1 1 - - - - Ins 89a37df2-329d-11e6-a0ea-135325c9da85 15_64035464_TTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 64035464 T TC 300 PASS HERC1 Ins intronic 1 1 MSH6 child 15_64035464_TTC_MSH6 1 1 - - - - Ins 89a3a1b6-328d-11e6-9721-bd9fb868caf4 18_23605670_CAC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 18 23605670 CA C 600 PASS SS18 Del intronic 1 8 POLB child 18_23605670_CAC_POLB 1 1 1 A 7 A Repeat-mediated 89a7d366-3289-11e6-821d-8c090e01a414 13_34085374_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 34085374 TG T 420 PASS RP11-141M1.3 Del intronic 1 6 MSH6 child 13_34085374_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 89a931fe-3291-11e6-8b9f-eea73adbad45 3_23699060_GAG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 23699060 GA G 420 PASS - Del - 1 8 NEIL1 child 3_23699060_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 89a9dec6-328a-11e6-b7fa-0f9612ae24cf 18_15257015_AAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 18 15257015 A AT 361 PASS - Ins - 1 7 CHK2 child 18_15257015_AAT_CHK2 1 1 - - - - Ins 89aa04ee-3282-11e6-a2e8-f2338e4678dd 15_23911104_GGT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 15 23911104 G GT 360 PASS - Ins - 1 1 EXO1 child 15_23911104_GGT_EXO1 1 1 - - - - Ins 89acdc7a-328a-11e6-a80b-87090e01a414 11_76807857_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 76807857 CA C 660 PASS CAPN5 Del intronic 1 8 MSH6 child 11_76807857_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 89af4586-327c-11e6-9484-e5b5cc638e3d 6_158536115_TTA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 6 158536115 T TA 300 PASS SERAC1 Ins intronic 1 7 EXO1 child 6_158536115_TTA_EXO1 1 1 - - - - Ins 89b34b80-3282-11e6-9da4-3e472a2d4995 1_198172062_GAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 1 198172062 GA G 300 PASS NEK7 Del intronic 1 7 EXO1 child 1_198172062_GAG_EXO1 1 1 1 A 6 A Repeat-mediated 89bbffa4-328d-11e6-b8e6-91c36f39e758 11_133952692_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 133952692 AC A 480 PASS JAM3 Del intronic 1 7 MSH6 child 11_133952692_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 89bdd260-329d-11e6-aca6-b39fcc638e3d 2_239919929_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 239919929 CT C 420 PASS - Del - 1 6 MSH6 child 2_239919929_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 89ccf0da-3287-11e6-95fb-1402b5d65427 10_89454315_AGAATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 10 89454315 AGAAT A 600 PASS PAPSS2 Del intronic 4 1 NUDT1 parent 10_89454315_AGAATA_NUDT1 4 4 2 GA 0 - Microhomology-mediated 89d23f9a-328c-11e6-8083-5acc977b3f23 16_65979465_CAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 16 65979465 CA C 480 PASS - Del - 1 8 NEIL1 child 16_65979465_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated 89d9092e-3296-11e6-9411-bc1ec7271a47 19_9478440_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 19 9478440 AT A 660 PASS ZNF559-ZNF177 Del intronic 1 7 CHK2 child 19_9478440_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 89dcdfb4-3321-11e6-ae98-b2b5fa52e078 2_79625893_CAC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 79625893 CA C 300 PASS CTNNA2 Del intronic 1 9 EXO1 child 2_79625893_CAC_EXO1 1 1 1 A 8 A Repeat-mediated 89e8f8ee-3281-11e6-9b68-79e41da8ec0e 2_84279034_GAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 84279034 GA G 360 PASS - Del - 1 7 EXO1 child 2_84279034_GAG_EXO1 1 1 1 A 6 A Repeat-mediated 89f2b5f0-3277-11e6-9608-84e46de4ab00 7_135131470_GACG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 135131470 GAC G 360 PASS CNOT4 Del intronic 2 7 EXO1 child 7_135131470_GACG_EXO1 2 2 2 AC 6 AC Repeat-mediated 89f4b96a-328e-11e6-bec1-ca1d0e01a414 X_103976091_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 103976091 CT C 561 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_103976091_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 89f5480e-32a1-11e6-a04f-c66a25c9da85 6_147323540_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 147323540 CA C 780 PASS - Del - 1 8 MSH6 child 6_147323540_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 89f56032-3283-11e6-a8a4-f49d69062303 7_4640770_GTCAGGAGATCAAGACCATCCAGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTGTACTCCCAGCTACG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 7 4640770 GTCAGGAGATCAAGACCATCCAGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTGTACTCCCAGCTAC G 720 PASS - Del - 104 1 FANCC child 7_4640770_GTCAGGAGATCAAGACCATCCAGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTGTACTCCCAGCTACG_FANCC 104 >=10 2 TC 0 - Microhomology-mediated 89f76a7a-3270-11e6-8418-1c5942c4520d 3_53018281_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 53018281 GA G 300 PASS SFMBT1 Del intronic 1 4 MSH6 child 3_53018281_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 89f7cb64-329d-11e6-bc2c-2a5e25c9da85 4_41585942_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 41585942 GT G 660 PASS LIMCH1 Del intronic 1 9 MSH6 child 4_41585942_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 89f88fda-3285-11e6-99f7-076ea2c71c31 12_98702005_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 98702005 CA C 420 PASS - Del - 1 8 MSH6 child 12_98702005_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 89faafb4-3347-11e6-b0ff-c495e84777f6 10_6585598_CGATGATCAAACAACCCAACT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 6585598 CGATGATCAAA CAACCCAACT 420 PASS PRKCQ Complex intronic 10 0 FANCC child 10_6585598_CGATGATCAAACAACCCAACT_FANCC 1 1 - - - - Complex 89fb97bc-328e-11e6-bec1-ca1d0e01a414 X_103995558_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 103995558 TA T 360 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_103995558_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8a0ffd6c-326e-11e6-b306-b5204b47a305 2_172013752_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 172013752 CA C 480 PASS TLK1 Del intronic 1 4 MSH6 child 2_172013752_CAC_MSH6 1 1 1 A 3 A Repeat-mediated 8a1aee80-328b-11e6-b805-77090e01a414 2_153294086_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 153294086 CT C 660 PASS FMNL2 Del intronic 1 8 MSH6 child 2_153294086_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8a246f0a-3290-11e6-92cf-bf2a0e01a414 6_111291471_CAGGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 111291471 CAGG C 480 PASS GTF3C6 Del downstream 3 1 MSH6 child 6_111291471_CAGGC_MSH6 3 3 2 AG 0 - Microhomology-mediated 8a294cbe-3286-11e6-afcf-0311bce6aa09 9_90523470_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 90523470 CA C 600 PASS - Del - 1 6 MSH6 child 9_90523470_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 8a302b30-3257-11e6-885f-d1947872c165 4_98421211_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 98421211 CA C 900 PASS - Del - 1 7 MSH6 child 4_98421211_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 8a31a9be-3276-11e6-bc24-bc6e3cfdbd24 6_26409153_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 26409153 AT A 480 PASS BTN3A1 Del intronic 1 7 MSH6 parent 6_26409153_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8a321b04-329b-11e6-b549-1e5325c9da85 10_101328610_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 101328610 GA G 540 PASS - Del - 1 8 MSH6 child 10_101328610_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8a370106-329f-11e6-bc2c-2a5e25c9da85 4_169348936_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 169348936 GA G 600 PASS DDX60L Del intronic 1 7 MSH6 child 4_169348936_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 8a382ea0-329a-11e6-a0ea-135325c9da85 15_53102659_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 53102659 CT C 420 PASS - Del - 1 9 MSH6 child 15_53102659_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8a3d4428-3289-11e6-b9eb-c78fa2c71c31 6_168189067_CGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 168189067 CG C 360 PASS - Del - 1 6 MSH6 child 6_168189067_CGC_MSH6 1 1 1 G 5 G Repeat-mediated 8a3ffb10-328d-11e6-a724-38ab4430f757 1_75381374_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 1 75381374 CT C 420 PASS - Del - 1 8 POLE child 1_75381374_CTC_POLE 1 1 1 T 7 T Repeat-mediated 8a4254ac-3277-11e6-a391-f6d67d6a9fc7 6_7877115_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 7877115 CT C 420 PASS TXNDC5 Del downstream 1 8 MSH6 child 6_7877115_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8a45cadc-3327-11e6-8527-5503694da5d2 X_96372962_GGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA X 96372962 G GT 300 PASS DIAPH2 Ins intronic 1 9 EXO1 child X_96372962_GGT_EXO1 1 1 - - - - Ins 8a4842b8-326d-11e6-adc2-b7204b47a305 18_77969935_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 77969935 TA T 480 PASS PARD6G Del intronic 1 9 MSH6 child 18_77969935_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8a5272ca-328a-11e6-a7cf-80090e01a414 15_67149432_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 67149432 TC T 360 PASS - Del - 1 1 MSH6 child 15_67149432_TCT_MSH6 1 1 0 - 0 C None 8a568d12-3256-11e6-acc5-308412ae24cf 5_12740716_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 12740716 AT A 660 PASS CT49 Del intronic 1 9 MSH6 child 5_12740716_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8a6018f6-3273-11e6-abaf-4642cab49462 6_136768812_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 136768812 GT G 300 PASS MAP7 Del intronic 1 7 MSH6 child 6_136768812_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 8a76174e-3289-11e6-a32d-75090e01a414 14_36595201_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 36595201 AT A 900 PASS LINC00609 Del intronic 1 8 MSH6 child 14_36595201_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8a83d6da-328f-11e6-abc8-b5d7faf1a024 8_101815688_AAGT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 8 101815688 A AGT 540 PASS - Ins - 2 8 POLM child 8_101815688_AAGT_POLM 2 2 - - - - Ins 8a892348-328e-11e6-be52-ac74fd44d094 20_35651892_AGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 20 35651892 AG A 420 PASS RBL1 Del intronic 1 5 FANCC child 20_35651892_AGA_FANCC 1 1 1 G 4 G Repeat-mediated 8a8a0bf0-3284-11e6-821e-69f1bbe6aa09 16_16187654_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 16187654 CT C 360 PASS ABCC1 Del intronic 1 8 MSH6 child 16_16187654_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8a8a9ce0-327b-11e6-ab1d-16d9ecf1e924 20_52500693_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 52500693 C CA 360 PASS - Ins - 1 9 MSH6 child 20_52500693_CCA_MSH6 1 1 - - - - Ins 8a8c73c4-328c-11e6-8459-82090e01a414 12_51448882_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 51448882 C CA 300 PASS LETMD1 Ins intronic 1 9 MSH6 child 12_51448882_CCA_MSH6 1 1 - - - - Ins 8a916f84-3271-11e6-8fc7-e8702aaffa45 9_121469997_AACAGAGATCAGA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 9 121469997 AACAGAGATCAG A 600 PASS RP11-349E4.1 Del upstream 11 1 POLM child 9_121469997_AACAGAGATCAGA_POLM 11 >=10 2 AC 0 - Microhomology-mediated 8a92b966-3271-11e6-b1f2-34f6620e6611 1_56097930_AACATAGAACACTTTGTGA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 1 56097930 AACATAGAACACTTTGTG A 300 PASS RP11-466L17.1 Del intronic 17 1 CHK2 child 1_56097930_AACATAGAACACTTTGTGA_CHK2 17 >=10 5 ACATA 0 - Microhomology-mediated 8a94d11c-3288-11e6-b9eb-c78fa2c71c31 6_64682434_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 64682434 CT C 420 PASS EYS Del intronic 1 9 MSH6 child 6_64682434_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8a95b270-329d-11e6-ae71-0c5325c9da85 1_214370493_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 214370493 CA C 480 PASS - Del - 1 9 MSH6 child 1_214370493_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8a9b9848-3289-11e6-b9eb-c78fa2c71c31 6_168263074_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 168263074 TA T 300 PASS MLLT4 Del intronic 1 1 MSH6 child 6_168263074_TAT_MSH6 1 1 0 - 0 A None 8aa3b2a4-328d-11e6-919e-92c36f39e758 2_138839900_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 138839900 GT G 420 PASS - Del - 1 6 MSH6 child 2_138839900_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 8aa4457c-329a-11e6-bda6-065325c9da85 13_60870234_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 60870234 CA C 500 PASS - Del - 1 9 MSH6 child 13_60870234_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8ab2648a-3322-11e6-a8ef-bb593dc9300a 2_185741743_TAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 2 185741743 TA T 300 PASS ZNF804A Del intronic 1 8 CHK2 child 2_185741743_TAT_CHK2 1 1 1 A 7 A Repeat-mediated 8ab5ae18-3270-11e6-9c6e-9f402a2d4995 2_151465797_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 2 151465797 AT A 300 PASS AC104777.4 Del upstream 1 8 POLB child 2_151465797_ATA_POLB 1 1 1 T 7 T Repeat-mediated 8ab8c2aa-328a-11e6-8459-82090e01a414 12_75595063_AAAAAAAAAAAAAAAACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 75595063 AAAAAAAAAAAAAAAAC A 360 PASS KCNC2 Del intronic 16 1 MSH6 child 12_75595063_AAAAAAAAAAAAAAAACA_MSH6 16 >=10 0 - 0 - None 8ac30d2a-325b-11e6-885f-d1947872c165 4_186269438_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 186269438 G GA 480 PASS SNX25 Ins intronic 1 7 MSH6 child 4_186269438_GGA_MSH6 1 1 - - - - Ins 8ac552d4-329b-11e6-a5cf-205325c9da85 11_107044044_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 107044044 AT A 600 PASS - Del - 1 8 MSH6 child 11_107044044_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8acb5636-328f-11e6-92cf-bf2a0e01a414 6_42972516_CAGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 42972516 CAG C 420 PASS PPP2R5D Del intronic 2 2 MSH6 child 6_42972516_CAGC_MSH6 2 2 2 AG 1 AG Repeat-mediated 8ad23082-3253-11e6-9f9d-2c7a7872c165 12_2223545_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 2223545 CT C 300 PASS CACNA1C Del intronic 1 9 MSH6 child 12_2223545_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8adc2d1c-328a-11e6-a70a-47793adbad45 3_82006686_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 82006686 AT A 600 PASS - Del - 1 9 NUDT1 parent 3_82006686_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 8ae018e6-3271-11e6-b5b8-e0c24a47a305 X_153526265_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 153526265 AT A 420 PASS TKTL1 Del intronic 1 9 MSH6 child X_153526265_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8ae53274-3288-11e6-940d-53a538e8a824 2_118560625_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 118560625 TA T 600 PASS - Del - 1 9 NUDT1 parent 2_118560625_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 8ae802f4-3325-11e6-85fa-8f2b51c54cdd 7_131551379_GTG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 7 131551379 GT G 480 PASS - Del - 1 1 CHK2 parent 7_131551379_GTG_CHK2 1 1 0 - 0 T None 8aed0b26-326e-11e6-b2ac-b6204b47a305 17_39242552_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 39242552 T TA 394 PASS KRTAP4-7 Ins downstream 1 6 MSH6 child 17_39242552_TTA_MSH6 1 1 - - - - Ins 8af5c428-32a0-11e6-aea7-956725c9da85 3_139840802_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 139840802 GA G 960 PASS CLSTN2 Del intronic 1 7 MSH6 child 3_139840802_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 8b08599c-32a2-11e6-b696-dd6225c9da85 5_179694824_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 179694824 C CA 300 PASS MAPK9 Ins intronic 1 7 MSH6 child 5_179694824_CCA_MSH6 1 1 - - - - Ins 8b0fde44-3287-11e6-a284-4b89a2c71c31 4_89670800_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 89670800 CT C 720 PASS FAM13A Del intronic 1 5 MSH6 child 4_89670800_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 8b10c220-328f-11e6-b6a6-1f1e0e01a414 4_188985237_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 188985237 TA T 300 PASS - Del - 1 7 MSH6 child 4_188985237_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8b1c3c72-3276-11e6-8c34-46e27872c165 5_78936651_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 78936651 CT C 480 PASS PAPD4 Del intronic 1 8 MSH6 child 5_78936651_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8b253714-3280-11e6-9f9b-29bd9b6d3b88 11_663055_AGAGTCCCAGCACTCTGGGAGGCTGACTGGGCGAATATCTTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 663055 AGAGTCCCAGCACTCTGGGAGGCTGACTGGGCGAATATCTT A 360 PASS DEAF1 Del intronic 40 1 EXO1 child 11_663055_AGAGTCCCAGCACTCTGGGAGGCTGACTGGGCGAATATCTTA_EXO1 40 >=10 3 GAG 0 - Microhomology-mediated 8b26813a-3273-11e6-aa3b-ca60a178171f 13_97175827_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 97175827 CT C 698 PASS HS6ST3 Del intronic 1 8 MSH6 child 13_97175827_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8b38bf20-328d-11e6-b6a6-1f1e0e01a414 4_65450818_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 65450818 CT C 360 PASS - Del - 1 7 MSH6 child 4_65450818_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 8b3a2a7a-3285-11e6-9162-c3af90e2c2e6 2_144103132_ATA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 2 144103132 AT A 540 PASS ARHGAP15 Del intronic 1 9 POLE child 2_144103132_ATA_POLE 1 1 1 T 8 T Repeat-mediated 8b3a2f06-3290-11e6-b81f-4ee66f39e758 8_53869029_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 53869029 AT A 480 PASS - Del - 1 8 MSH6 child 8_53869029_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8b439a7a-329d-11e6-bc2c-2a5e25c9da85 4_41880098_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 41880098 GT G 480 PASS LINC00682 Del downstream 1 8 MSH6 child 4_41880098_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 8b477170-329f-11e6-bc2c-2a5e25c9da85 4_169481057_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 169481057 GA G 600 PASS PALLD Del intronic 1 9 MSH6 child 4_169481057_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8b484db0-334a-11e6-a997-309d38e8a824 4_164378587_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 164378587 TA T 360 PASS - Del - 1 9 FANCC child 4_164378587_TAT_FANCC 1 1 1 A 8 A Repeat-mediated 8b4c6540-3272-11e6-975f-8246cab49462 16_10209675_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 10209675 CT C 300 PASS GRIN2A Del intronic 1 9 MSH6 child 16_10209675_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8b54640a-328d-11e6-9340-3a91e7d0bdd7 12_125842133_CCA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 12 125842133 C CA 780 PASS TMEM132B Ins intronic 1 5 POLM child 12_125842133_CCA_POLM 1 1 - - - - Ins 8b5f2b56-3292-11e6-9401-04ed6f39e758 3_181904256_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 181904256 CT C 420 PASS - Del - 1 6 MSH6 child 3_181904256_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 8b69d4a6-328e-11e6-b9c4-751d0e01a414 5_155958802_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 155958802 GA G 360 PASS SGCD Del intronic 1 9 MSH6 child 5_155958802_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8b7414e0-3296-11e6-a2f7-5503d9b4fa2c 6_63456561_TTGT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 6 63456561 TTG T 600 PASS - Del - 2 7 NUDT1 child 6_63456561_TTGT_NUDT1 2 2 2 TG 6 TG Repeat-mediated 8b7809d2-3292-11e6-9d24-ade56f39e758 7_98417143_AAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 98417143 A AG 420 PASS - Ins - 1 1 MSH6 child 7_98417143_AAG_MSH6 1 1 - - - - Ins 8b784ce6-3254-11e6-8f56-7d832aaffa45 13_37454559_TTCTCT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 13 37454559 TTCTC T 600 PASS SMAD9 Del intronic 4 2 POLM child 13_37454559_TTCTCT_POLM 4 4 0 - 0 - None 8b78c676-328b-11e6-abb8-f3c9996ede67 12_101997494_AAGAATTGCTTAAGCCCAG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 12 101997494 A AGAATTGCTTAAGCCCAG 300 PASS MYBPC1 Ins intronic 17 0 CHK2 child 12_101997494_AAGAATTGCTTAAGCCCAG_CHK2 17 >=10 - - - - Ins 8b7bda4c-328a-11e6-ad64-7189a178171f 5_165919523_GTGTCAGATACATTTGTCAAAGCCCATAGCATATG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 165919523 GTGTCAGATACATTTGTCAAAGCCCATAGCATAT G 360 PASS - Del - 33 1 FANCC child 5_165919523_GTGTCAGATACATTTGTCAAAGCCCATAGCATATG_FANCC 33 >=10 0 - 0 - None 8b850f76-3259-11e6-a304-347a7872c165 1_173535791_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 173535791 A AT 600 PASS SLC9C2 Ins intronic 1 6 MSH6 child 1_173535791_AAT_MSH6 1 1 - - - - Ins 8b8da842-328c-11e6-b4fe-93c36f39e758 12_61743676_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 61743676 TA T 480 PASS - Del - 1 8 MSH6 child 12_61743676_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8b95a3b8-3254-11e6-a70f-7c832aaffa45 17_16096083_GATG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 17 16096083 GAT G 540 PASS NCOR1 Del intronic 2 3 POLM child 17_16096083_GATG_POLM 2 2 2 AT 2 AT Repeat-mediated 8b9bd818-3273-11e6-aa3b-ca60a178171f 13_97366559_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 97366559 CA C 780 PASS HS6ST3 Del intronic 1 9 MSH6 child 13_97366559_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8b9e92a2-3272-11e6-94cc-1ec335cec73b 19_6908494_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 6908494 CT C 360 PASS EMR1 Del intronic 1 7 MSH6 child 19_6908494_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 8b9eb162-328e-11e6-8e48-791e0e01a414 8_61790348_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 61790348 TA T 300 PASS - Del - 1 9 MSH6 child 8_61790348_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8baa61f6-3324-11e6-be22-69745e975b79 1_18557935_GGAC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 1 18557935 G GAC 780 PASS IGSF21 Ins intronic 2 1 CHK2 parent 1_18557935_GGAC_CHK2 2 2 - - - - Ins 8baefb9a-3288-11e6-b9eb-c78fa2c71c31 6_65323193_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 65323193 CT C 360 PASS EYS Del intronic 1 7 MSH6 child 6_65323193_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 8bb49074-328c-11e6-ac7a-a3c36f39e758 18_67773932_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 67773932 GA G 540 PASS RTTN Del intronic 1 9 MSH6 child 18_67773932_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8bb4c644-326d-11e6-9f48-94df41c4520d 12_74721282_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 74721282 GA G 420 PASS RP11-81H3.2 Del intronic 1 8 MSH6 child 12_74721282_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8bbe0460-3273-11e6-9b10-3e7da20b69d5 15_92195631_GAG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 15 92195631 GA G 420 PASS RP11-692C24.2 Del upstream 1 1 NUDT1 child 15_92195631_GAG_NUDT1 1 1 0 - 0 A None 8bc08990-3298-11e6-ad17-c026c7271a47 9_37082584_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 9 37082584 TA T 466 PASS RP11-220I1.1 Del intronic 1 6 CHK2 child 9_37082584_TAT_CHK2 1 1 1 A 5 A Repeat-mediated 8bcdfdd6-3325-11e6-9c20-925172d7bc54 3_194885293_GGACCAGGCCAGAGGTGGCCAGATACCAGCAATACAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 3 194885293 GGACCAGGCCAGAGGTGGCCAGATACCAGCAATACA G 420 PASS XXYLT1 Del intronic 35 1 EXO1 child 3_194885293_GGACCAGGCCAGAGGTGGCCAGATACCAGCAATACAG_EXO1 35 >=10 4 GACC 0 - Microhomology-mediated 8bdd7872-3273-11e6-aa3b-ca60a178171f 13_97544834_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 97544834 AT A 660 PASS - Del - 1 9 MSH6 child 13_97544834_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8be252e6-3275-11e6-a71d-236235cec73b X_18645903_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 18645903 CA C 300 PASS CDKL5 Del intronic 1 9 MSH6 child X_18645903_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8be4185e-3290-11e6-b3a9-d5afe7d0bdd7 4_46051059_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 46051059 AT A 420 PASS GABRG1 Del intronic 1 8 FANCC child 4_46051059_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 8be56104-32a0-11e6-aea7-956725c9da85 3_140251448_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 140251448 CA C 540 PASS CLSTN2 Del intronic 1 9 MSH6 child 3_140251448_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8bee18e6-328f-11e6-b4fe-93c36f39e758 12_108559180_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 108559180 G GT 540 PASS WSCD2 Ins intronic 1 7 MSH6 child 12_108559180_GGT_MSH6 1 1 - - - - Ins 8bf1c6cc-3270-11e6-9d19-c216987b3f23 21_21546682_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 21546682 AT A 420 PASS - Del - 1 8 MSH6 child 21_21546682_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8bf3c542-3272-11e6-b332-88ba7d6a9fc7 15_24073994_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 24073994 AT A 540 PASS - Del - 1 9 MSH6 child 15_24073994_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8bf50cc6-3273-11e6-bfb2-2749c225ee11 12_80398797_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 80398797 TA T 720 PASS - Del - 1 9 MSH6 child 12_80398797_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8c0565f8-328c-11e6-ac7a-a3c36f39e758 18_67832936_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 67832936 TA T 360 PASS RTTN Del intronic 1 8 MSH6 child 18_67832936_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8c0a67ae-3275-11e6-94fa-fb6bcde16804 9_107813197_GTCCG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 9 107813197 GTCC G 600 PASS - Del - 3 1 POLB child 9_107813197_GTCCG_POLB 3 3 1 T 0 - Microhomology-mediated 8c0b7c7e-3285-11e6-b093-c9c7b0dab373 2_88446555_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 88446555 CT C 540 PASS - Del - 1 8 MSH6 child 2_88446555_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8c101dfe-3282-11e6-9607-56b01ac527ab 4_3088649_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 3088649 CT C 360 PASS HTT Del intronic 1 8 FANCC child 4_3088649_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 8c151240-328d-11e6-b9c4-751d0e01a414 5_82742343_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 82742343 GA G 660 PASS - Del - 1 9 MSH6 child 5_82742343_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8c172650-3280-11e6-83f7-b4262eaed38e 15_34591219_CCAAAC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 15 34591219 CCAAA C 540 PASS SLC12A6 Del intronic 4 1 POLB child 15_34591219_CCAAAC_POLB 4 4 2 CA 0 - Microhomology-mediated 8c1bf842-3276-11e6-9e0f-7959cab49462 7_73045505_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 73045505 AT A 480 PASS - Del - 1 8 MSH6 child 7_73045505_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8c2072ae-3286-11e6-afcf-0311bce6aa09 9_91263451_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 91263451 TA T 420 PASS RP13-60M5.2 Del intronic 1 8 MSH6 child 9_91263451_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8c293328-329d-11e6-8069-175325c9da85 12_78154585_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 78154585 C CA 480 PASS - Ins - 1 1 MSH6 child 12_78154585_CCA_MSH6 1 1 - - - - Ins 8c2b4be8-329f-11e6-94ca-0aaecc638e3d X_129943818_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 129943818 CA C 420 PASS ENOX2 Del intronic 1 6 MSH6 child X_129943818_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 8c2d9522-3297-11e6-9c5d-eaf997ba1142 12_96731808_GTG . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 12 96731808 GT G 300 PASS CDK17 Del intronic 1 5 CHK2 child 12_96731808_GTG_CHK2 1 1 1 T 4 T Repeat-mediated 8c316eca-3276-11e6-998e-ba48fa52e078 8_57125091_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 57125091 CT C 660 PASS PLAG1 Del upstream 1 3 MSH6 child 8_57125091_CTC_MSH6 1 1 1 T 2 T Repeat-mediated 8c38128a-328e-11e6-bfa2-581f0e01a414 7_109359908_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 109359908 AC A 337 PASS - Del - 1 5 MSH6 child 7_109359908_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 8c3912e6-3286-11e6-a5b3-3f1ebce6aa09 7_8840517_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 8840517 TA T 320 PASS - Del - 1 9 MSH6 child 7_8840517_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8c395666-329f-11e6-94ca-0aaecc638e3d X_129986058_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 129986058 GA G 720 PASS ENOX2 Del intronic 1 8 MSH6 child X_129986058_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8c3d0548-326f-11e6-b5b8-e0c24a47a305 X_49429103_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 49429103 TA T 360 PASS - Del - 1 6 MSH6 child X_49429103_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 8c3f702e-328a-11e6-aac2-75bb5d753391 4_15479586_GAG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 15479586 GA G 660 PASS CC2D2A Del intronic 1 9 POLE child 4_15479586_GAG_POLE 1 1 1 A 8 A Repeat-mediated 8c44db94-3290-11e6-b77d-2eef6f39e758 6_8134040_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 8134040 CA C 300 PASS - Del - 1 9 MSH6 child 6_8134040_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8c5e5674-328a-11e6-9c89-8d090e01a414 1_67711453_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 67711453 CT C 420 PASS IL23R Del intronic 1 8 MSH6 child 1_67711453_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8c5eeae8-329a-11e6-8069-175325c9da85 12_42845078_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 42845078 GT G 600 PASS PPHLN1 Del downstream 1 9 MSH6 child 12_42845078_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 8c672ef6-3281-11e6-a545-ae2236fc2f7d 14_83533537_CATC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 14 83533537 CAT C 480 PASS - Del - 2 1 NUDT1 child 14_83533537_CATC_NUDT1 2 2 1 A 0 - Microhomology-mediated 8c69a7f8-3286-11e6-b8a8-aac02daed38e 8_127135136_CCT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 8 127135136 C CT 540 PASS - Ins - 1 3 POLB child 8_127135136_CCT_POLB 1 1 - - - - Ins 8c86896c-3273-11e6-975f-8246cab49462 16_70066571_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 70066571 CA C 530 PASS MIR1972-2 Del downstream 1 9 MSH6 child 16_70066571_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8c8d8b4c-328f-11e6-bec1-ca1d0e01a414 X_19147001_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 19147001 C CT 300 PASS - Ins - 1 8 MSH6 child X_19147001_CCT_MSH6 1 1 - - - - Ins 8c90293c-329a-11e6-aca6-b39fcc638e3d 2_52949727_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 52949727 GA G 300 PASS AC010967.2 Del downstream 1 9 MSH6 child 2_52949727_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8c9418ea-3276-11e6-83cd-a472a178171f 4_110225270_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 110225270 TA T 420 PASS COL25A1 Del upstream 1 8 MSH6 child 4_110225270_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8c9bfaf6-3280-11e6-9e54-079882d12d16 12_16439566_GTG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 12 16439566 GT G 540 PASS - Del - 1 9 FANCC child 12_16439566_GTG_FANCC 1 1 1 T 8 T Repeat-mediated 8ca5107a-326f-11e6-aa5d-c85dcde16804 12_67544691_TAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 12 67544691 TA T 540 PASS - Del - 1 9 NEIL1 child 12_67544691_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 8ca5f958-329d-11e6-aca6-b39fcc638e3d 2_240902467_CGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 240902467 CG C 600 PASS NDUFA10 Del intronic 1 7 MSH6 child 2_240902467_CGC_MSH6 1 1 1 G 6 G Repeat-mediated 8ca8b018-3274-11e6-b539-d702ebb8d062 7_155705441_GCTGATTTTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 155705441 GCTGATTTT G 600 PASS - Del - 8 1 NUDT1 child 7_155705441_GCTGATTTTG_NUDT1 8 8 3 CTG 0 - Microhomology-mediated 8cbe421c-3273-11e6-bea5-e783a20b69d5 13_76867652_AGA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 76867652 AG A 360 PASS - Del - 1 1 EXO1 child 13_76867652_AGA_EXO1 1 1 0 - 0 G None 8cbe4d56-3279-11e6-83cd-a472a178171f 4_124461172_AAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 124461172 A AG 460 PASS - Ins - 1 1 MSH6 child 4_124461172_AAG_MSH6 1 1 - - - - Ins 8cca5642-3282-11e6-bab4-eb3afc1f1540 1_158058637_TGCAT . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 1 158058637 TGCA T 600 PASS KIRREL Del intronic 3 2 FANCC child 1_158058637_TGCAT_FANCC 3 3 3 GCA 1 GCA Repeat-mediated 8cd5b9ec-328c-11e6-b43c-7ec36f39e758 16_60865562_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 60865562 TA T 660 PASS - Del - 1 8 MSH6 child 16_60865562_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8ce090aa-3288-11e6-a284-4b89a2c71c31 4_183422937_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 183422937 CT C 780 PASS TENM3 Del intronic 1 7 MSH6 child 4_183422937_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 8ce09d6e-3285-11e6-aa79-5da038e8a824 6_2945606_AGA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 6 2945606 AG A 840 PASS SERPINB6 Del downstream 1 1 POLE parent 6_2945606_AGA_POLE 1 1 0 - 0 G None 8ce64a1c-3270-11e6-b923-6726694da5d2 5_75362445_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 75362445 GA G 460 PASS - Del - 1 9 MSH6 child 5_75362445_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8cec5972-327d-11e6-b1df-d11c0e01a414 7_96722746_CTC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 7 96722746 CT C 480 PASS - Del - 1 8 FANCC parent 7_96722746_CTC_FANCC 1 1 1 T 7 T Repeat-mediated 8ced975c-326d-11e6-9f48-94df41c4520d 12_75038823_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 75038823 GT G 300 PASS - Del - 1 4 MSH6 child 12_75038823_GTG_MSH6 1 1 1 T 3 T Repeat-mediated 8cf4e920-3287-11e6-8d3f-2a9c20e7b7a8 18_11532269_CTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 18 11532269 CT C 480 PASS - Del - 1 9 POLE child 18_11532269_CTC_POLE 1 1 1 T 8 T Repeat-mediated 8cfb06dc-3270-11e6-b5b8-e0c24a47a305 X_66300040_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 66300040 CT C 300 PASS - Del - 1 7 MSH6 child X_66300040_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 8d005124-3283-11e6-ab71-a8f7b0dab373 1_192736984_AACA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 1 192736984 AAC A 480 PASS - Del - 2 1 POLE parent 1_192736984_AACA_POLE 2 2 1 A 0 - Microhomology-mediated 8d01cc00-3285-11e6-a0a8-096ea2c71c31 11_109570524_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 109570524 CA C 300 PASS - Del - 1 9 MSH6 child 11_109570524_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8d05d330-329f-11e6-bc2c-2a5e25c9da85 4_169929534_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 169929534 CA C 840 PASS CBR4 Del intronic 1 9 MSH6 child 4_169929534_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8d0feefa-3273-11e6-bfb2-2749c225ee11 12_80805601_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 80805601 AT A 540 PASS - Del - 1 6 MSH6 child 12_80805601_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 8d18fbd0-3345-11e6-94cb-be633cfdbd24 16_10221309_AATCA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 16 10221309 AATC A 360 PASS GRIN2A Del intronic 3 1 FANCC child 16_10221309_AATCA_FANCC 3 3 2 AT 0 - Microhomology-mediated 8d2176c0-3291-11e6-9401-04ed6f39e758 3_112050437_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 112050437 CA C 360 PASS CD200 Del upstream 1 8 MSH6 child 3_112050437_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 8d22932a-329b-11e6-ae71-0c5325c9da85 1_90884337_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 90884337 CA C 660 PASS - Del - 1 6 MSH6 child 1_90884337_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 8d23b200-3291-11e6-b81f-4ee66f39e758 8_129368916_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 129368916 GA G 660 PASS - Del - 1 7 MSH6 child 8_129368916_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 8d309a0c-3254-11e6-a4a7-35f212ae24cf 14_83649614_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 83649614 AT A 420 PASS - Del - 1 4 MSH6 child 14_83649614_ATA_MSH6 1 1 1 T 3 T Repeat-mediated 8d30c8a2-3258-11e6-91d3-a68412ae24cf 7_157205560_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 157205560 AT A 300 PASS DNAJB6 Del intronic 1 8 MSH6 child 7_157205560_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8d3d8d42-328c-11e6-bec1-ca1d0e01a414 X_16414576_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 16414576 AT A 720 PASS - Del - 1 6 MSH6 child X_16414576_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 8d3ed180-328b-11e6-b805-77090e01a414 2_153989244_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 153989244 AT A 360 PASS - Del - 1 7 MSH6 child 2_153989244_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8d42f128-3323-11e6-ba3d-227d3adbad45 4_139087952_GAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 4 139087952 GA G 600 PASS SLC7A11 Del 3prime_UTR_variant 1 7 CHK2 child 4_139087952_GAG_CHK2 1 1 1 A 6 A Repeat-mediated 8d44ddcc-3345-11e6-94cb-be633cfdbd24 16_10230153_TGAAGGCT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 16 10230153 TGAAGGC T 420 PASS GRIN2A Del intronic 6 1 FANCC child 16_10230153_TGAAGGCT_FANCC 6 6 3 GAA 0 - Microhomology-mediated 8d4e42c4-3280-11e6-b7ea-83299ecd0b3a 10_16658059_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 10 16658059 TA T 300 PASS RSU1 Del intronic 1 7 POLB child 10_16658059_TAT_POLB 1 1 1 A 6 A Repeat-mediated 8d527802-3254-11e6-b7c7-cd919b6d3b88 18_24534277_AGTA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 18 24534277 AGT A 420 PASS CHST9 Del intronic 2 3 POLM child 18_24534277_AGTA_POLM 2 2 2 GT 2 GT Repeat-mediated 8d5b3e10-3277-11e6-92d2-c259c225ee11 3_87323281_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 87323281 CA C 480 PASS POU1F1 Del intronic 1 6 MSH6 child 3_87323281_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 8d6a8e76-3289-11e6-a32d-75090e01a414 14_37382184_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 37382184 CT C 300 PASS SLC25A21 Del intronic 1 9 MSH6 child 14_37382184_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8d708328-3273-11e6-a862-bc9becf1e924 1_72131897_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 72131897 AT A 660 PASS NEGR1 Del intronic 1 8 MSH6 child 1_72131897_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8d726296-329c-11e6-a5cf-e5abcc638e3d 9_21008715_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 21008715 TA T 660 PASS PTPLAD2 Del intronic 1 8 MSH6 child 9_21008715_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8d790a10-3288-11e6-a8ac-a28ea2c71c31 3_85270652_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 85270652 GA G 300 PASS CADM2 Del intronic 1 5 MSH6 child 3_85270652_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 8d8ac95e-3287-11e6-9955-19979cdf095d 8_52835476_GGT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 52835476 G GT 660 PASS - Ins - 1 2 POLE child 8_52835476_GGT_POLE 1 1 - - - - Ins 8d94ac6c-3287-11e6-aa79-5da038e8a824 6_156483144_CTC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 6 156483144 CT C 660 PASS - Del - 1 7 POLE parent 6_156483144_CTC_POLE 1 1 1 T 6 T Repeat-mediated 8d959d8c-328e-11e6-bec1-ca1d0e01a414 X_105777712_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 105777712 CT C 480 PASS - Del - 1 8 MSH6 child X_105777712_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8d98ee2a-334b-11e6-be18-768ca20b69d5 3_182611025_CTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 182611025 CT C 300 PASS ATP11B Del intronic 1 9 FANCC child 3_182611025_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 8da4ccd8-328b-11e6-8256-94c36f39e758 17_2370083_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 2370083 AT A 480 PASS METTL16 Del intronic 1 9 MSH6 child 17_2370083_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8db152ec-3276-11e6-998e-ba48fa52e078 8_57726406_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 57726406 CA C 480 PASS - Del - 1 9 MSH6 child 8_57726406_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8dba6ef6-328d-11e6-ad75-54ab4430f757 17_69521149_TACT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 17 69521149 TAC T 300 PASS - Del - 2 3 POLE child 17_69521149_TACT_POLE 2 2 2 AC 2 AC Repeat-mediated 8dbc4fc4-3322-11e6-a947-acb5cde16804 15_95383200_CAC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 15 95383200 CA C 360 PASS - Del - 1 8 POLE child 15_95383200_CAC_POLE 1 1 1 A 7 A Repeat-mediated 8dca9e16-3288-11e6-b242-94e95d753391 1_64737901_ATACTTCTTTTTTATCTTA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 1 64737901 ATACTTCTTTTTTATCTT A 480 PASS - Del - 17 1 POLE child 1_64737901_ATACTTCTTTTTTATCTTA_POLE 17 >=10 2 TA 0 - Microhomology-mediated 8dd34cb2-3271-11e6-be8c-25f524864c47 12_58380081_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 12 58380081 AT A 420 PASS - Del - 1 5 CHK2 child 12_58380081_ATA_CHK2 1 1 1 T 4 T Repeat-mediated 8dd6592e-326d-11e6-b306-b5204b47a305 2_81969021_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 81969021 GT G 420 PASS - Del - 1 9 MSH6 child 2_81969021_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 8ddd2bdc-328b-11e6-bd84-429305ad5bc4 1_8551088_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 8551088 GA G 720 PASS RERE Del intronic 1 6 MSH6 child 1_8551088_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 8de1f4d2-3286-11e6-8b67-086ea2c71c31 1_194340033_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 194340033 CA C 480 PASS - Del - 1 8 MSH6 child 1_194340033_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 8de5dd96-3325-11e6-9f5d-eba78a20d9eb 8_24781217_CTC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 24781217 CT C 480 PASS NEFM Del downstream 1 8 EXO1 child 8_24781217_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 8de86030-3284-11e6-a912-733e51c54cdd 13_56713855_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 13 56713855 GA G 600 PASS - Del - 1 8 EXO1 child 13_56713855_GAG_EXO1 1 1 1 A 7 A Repeat-mediated 8deb5394-3284-11e6-870e-6af1bbe6aa09 19_9905874_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 9905874 CA C 420 PASS ZNF846 Del upstream 1 9 MSH6 child 19_9905874_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8df8fa54-328d-11e6-ae53-96c36f39e758 15_86584235_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 86584235 TA T 480 PASS - Del - 1 7 MSH6 child 15_86584235_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8dfcecc8-3273-11e6-8f33-a6d9cde16804 11_106529629_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 106529629 CT C 480 PASS - Del - 1 8 MSH6 child 11_106529629_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8e075070-328a-11e6-8eee-76090e01a414 10_83601815_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 83601815 GA G 360 PASS - Del - 1 6 MSH6 child 10_83601815_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 8e1c150a-328a-11e6-9539-3490a178171f 3_70779973_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 70779973 AT A 360 PASS - Del - 1 8 FANCC child 3_70779973_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 8e2dca90-3279-11e6-a391-f6d67d6a9fc7 6_144247231_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 144247231 AT A 420 PASS ZC2HC1B Del intronic 1 9 MSH6 child 6_144247231_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8e32980a-3296-11e6-bfe3-c11ec7271a47 2_23884047_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 23884047 CA C 382 PASS KLHL29 Del intronic 1 6 CHK2 child 2_23884047_CAC_CHK2 1 1 1 A 5 A Repeat-mediated 8e340bfe-3273-11e6-8f33-a6d9cde16804 11_106664855_TACT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 106664855 TAC T 360 PASS GUCY1A2 Del intronic 2 6 MSH6 child 11_106664855_TACT_MSH6 2 2 2 AC 5 AC Repeat-mediated 8e392382-328c-11e6-bd84-429305ad5bc4 1_145791880_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 145791880 CA C 272 PASS GPR89A Del intronic 1 8 MSH6 child 1_145791880_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 8e393ea6-3270-11e6-a539-0e5542c4520d 7_112656793_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 112656793 CT C 480 PASS - Del - 1 8 MSH6 child 7_112656793_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8e3ca378-3272-11e6-a623-9985cdacbbbf 17_62194389_GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCATGCCACTGCCCTCACTCCAGCCTCAACGACAGAGTGAGATTCCATCTCAAAAAATAAATAAATAATAAAAATTTTTAAAAAAATCAACAATGTGGCCAGGCGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACTCACCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTATTGGCACATGGCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAAAATCACTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 17 62194389 GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCATGCCACTGCCCTCACTCCAGCCTCAACGACAGAGTGAGATTCCATCTCAAAAAATAAATAAATAATAAAAATTTTTAAAAAAATCAACAATGTGGCCAGGCGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACTCACCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTATTGGCACATGGCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAAAATCACT G 326 PASS ERN1 Del intronic 331 1 NUDT1 child 17_62194389_GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCATGCCACTGCCCTCACTCCAGCCTCAACGACAGAGTGAGATTCCATCTCAAAAAATAAATAAATAATAAAAATTTTTAAAAAAATCAACAATGTGGCCAGGCGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACTCACCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTATTGGCACATGGCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAAAATCACTG_NUDT1 331 >=10 18 TGAACCCGGGAGGCGGAG 0 - Microhomology-mediated 8e3d5978-328e-11e6-b4fe-93c36f39e758 12_41703742_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 41703742 A AT 300 PASS PDZRN4 Ins intronic 1 9 MSH6 child 12_41703742_AAT_MSH6 1 1 - - - - Ins 8e4405f4-325a-11e6-8340-da9012ae24cf 6_146158017_GCTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 146158017 GCT G 540 PASS - Del - 2 3 MSH6 child 6_146158017_GCTG_MSH6 2 2 2 CT 2 CT Repeat-mediated 8e4901d8-328e-11e6-9d41-3ba5e7d0bdd7 11_74458108_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 11 74458108 CT C 600 PASS RNF169 Del upstream 1 7 FANCC child 11_74458108_CTC_FANCC 1 1 1 T 6 T Repeat-mediated 8e4b9752-3272-11e6-b332-88ba7d6a9fc7 15_24851285_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 24851285 CA C 840 PASS PWRN1 Del intronic 1 5 MSH6 child 15_24851285_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 8e4d0ea2-3281-11e6-9f44-a22236fc2f7d 18_69567813_TAT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 18 69567813 TA T 360 PASS RP11-736G13.1 Del intronic 1 7 NUDT1 child 18_69567813_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated 8e55452a-3288-11e6-8404-8e1fbce6aa09 8_141375843_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 141375843 AT A 900 PASS TRAPPC9 Del intronic 1 6 MSH6 child 8_141375843_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 8e6cee0a-329c-11e6-a5cf-e5abcc638e3d 9_21418408_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 21418408 CA C 540 PASS - Del - 1 5 MSH6 child 9_21418408_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 8e73b598-3281-11e6-8857-3d859cdf095d 18_66937063_CAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 18 66937063 CA C 300 PASS - Del - 1 4 POLE child 18_66937063_CAC_POLE 1 1 1 A 3 A Repeat-mediated 8e8a669a-328f-11e6-9432-c0e56f39e758 5_66268255_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 66268255 GT G 600 PASS MAST4 Del intronic 1 7 MSH6 child 5_66268255_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 8e8e7e2c-328c-11e6-bec1-ca1d0e01a414 X_16755507_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 16755507 CA C 420 PASS SYAP1 Del intronic 1 9 MSH6 child X_16755507_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 8e90a4a2-329d-11e6-bc66-17b4cc638e3d 8_8152639_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 8152639 TA T 360 PASS - Del - 1 9 MSH6 child 8_8152639_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8ea1b890-3280-11e6-ab79-75e41da8ec0e 18_1137045_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 18 1137045 TA T 480 PASS RP11-78F17.1 Del intronic 1 4 EXO1 child 18_1137045_TAT_EXO1 1 1 1 A 3 A Repeat-mediated 8ea62e9c-3259-11e6-8cd9-139b7872c165 3_158120046_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 158120046 GT G 600 PASS RSRC1 Del intronic 1 6 MSH6 child 3_158120046_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 8ea73ba8-328f-11e6-bb1e-70e16f39e758 X_96600330_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 96600330 TA T 1020 PASS DIAPH2 Del intronic 1 7 MSH6 child X_96600330_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8eab7004-326e-11e6-acc7-e55219a91649 1_179910255_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 179910255 CA C 300 PASS RP11-533E19.2 Del intronic 1 8 MSH6 child 1_179910255_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 8eae7716-3289-11e6-821d-8c090e01a414 13_35354851_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 35354851 AC A 420 PASS - Del - 1 3 MSH6 child 13_35354851_ACA_MSH6 1 1 1 C 2 C Repeat-mediated 8eafc2ae-3254-11e6-a03d-40f212ae24cf 18_70454476_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 70454476 CA C 480 PASS NETO1 Del intronic 1 6 MSH6 child 18_70454476_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 8eb622ea-3257-11e6-91d3-a68412ae24cf 7_77190731_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 77190731 GA G 480 PASS PTPN12 Del intronic 1 5 MSH6 child 7_77190731_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 8eb967a6-329e-11e6-bc2c-2a5e25c9da85 4_107342121_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 107342121 AT A 960 PASS - Del - 1 5 MSH6 child 4_107342121_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 8ed1ea10-3271-11e6-abaf-4642cab49462 6_5986957_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 5986957 AT A 300 PASS - Del - 1 7 MSH6 child 6_5986957_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8ed30254-3287-11e6-95fb-1402b5d65427 10_93186607_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 10 93186607 AT A 736 PASS HECTD2 Del intronic 1 9 NUDT1 parent 10_93186607_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 8ed51588-3289-11e6-aff5-85090e01a414 16_15985713_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 15985713 TA T 420 PASS FOPNL Del upstream 1 9 MSH6 child 16_15985713_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8ed95740-328b-11e6-b4fe-93c36f39e758 12_3051782_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 3051782 GA G 780 PASS TULP3 Del downstream 1 8 MSH6 child 12_3051782_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8edef432-3292-11e6-887e-75dad8b4fa2c 13_115019835_CTC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 13 115019835 CT C 660 PASS CDC16 Del intronic 1 7 NUDT1 child 13_115019835_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated 8edff6b8-326d-11e6-9003-ae204b47a305 19_44314795_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 44314795 CT C 420 PASS LYPD5 Del intronic 1 8 MSH6 child 19_44314795_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 8ee965c8-328f-11e6-bb1e-70e16f39e758 X_96713752_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 96713752 TA T 420 PASS DIAPH2 Del intronic 1 8 MSH6 child X_96713752_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 8eea5b9e-3254-11e6-a304-347a7872c165 1_60874025_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 60874025 AT A 420 PASS - Del - 1 5 MSH6 child 1_60874025_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 8eeb74a8-3258-11e6-a39a-dc8512ae24cf 8_51269222_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 51269222 CT C 420 PASS SNTG1 Del intronic 1 7 MSH6 child 8_51269222_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 8eefbfb4-3270-11e6-a539-0e5542c4520d 7_112895580_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 112895580 AT A 300 PASS - Del - 1 8 MSH6 child 7_112895580_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8ef24144-3252-11e6-b895-bae612ae24cf 2_69495309_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 2 69495309 TA T 300 PASS - Del - 1 8 POLB child 2_69495309_TAT_POLB 1 1 1 A 7 A Repeat-mediated 8f00c372-3275-11e6-9e4c-96041ea8ec0e 5_125120263_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 5 125120263 AT A 660 PASS - Del - 1 6 FANCC child 5_125120263_ATA_FANCC 1 1 1 T 5 T Repeat-mediated 8f02118e-3273-11e6-bfb2-2749c225ee11 12_81324130_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 81324130 CT C 960 PASS LIN7A Del intronic 1 9 MSH6 child 12_81324130_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8f0743c4-328d-11e6-ae53-96c36f39e758 15_86729425_CGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 86729425 CG C 540 PASS AGBL1 Del intronic 1 4 MSH6 child 15_86729425_CGC_MSH6 1 1 1 G 3 G Repeat-mediated 8f079864-3284-11e6-9d58-b7936f39e758 17_50696403_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 17 50696403 GT G 300 PASS - Del - 1 9 EXO1 child 17_50696403_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 8f1288f0-329d-11e6-91d0-016425c9da85 7_6090400_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 6090400 AT A 400 PASS EIF2AK1 Del intronic 1 7 MSH6 child 7_6090400_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 8f16bcca-328b-11e6-b910-5ccc977b3f23 17_11433584_CCAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 17 11433584 CCA C 480 PASS SHISA6 Del intronic 2 8 NEIL1 child 17_11433584_CCAC_NEIL1 2 2 2 CA 7 CA Repeat-mediated 8f21ff0e-3277-11e6-92d2-c259c225ee11 3_87684412_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 87684412 TA T 660 PASS - Del - 1 6 MSH6 child 3_87684412_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 8f24c778-3288-11e6-a5b3-3f1ebce6aa09 7_34955750_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 34955750 G GA 370 PASS - Ins - 1 8 MSH6 child 7_34955750_GGA_MSH6 1 1 - - - - Ins 8f24deea-3286-11e6-a5b3-3f1ebce6aa09 7_10269537_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 10269537 TA T 360 PASS - Del - 1 9 MSH6 child 7_10269537_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8f258946-3284-11e6-821e-69f1bbe6aa09 16_17921872_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 17921872 GA G 420 PASS CTD-3229J4.1 Del downstream 1 8 MSH6 child 16_17921872_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8f30b866-329d-11e6-bc2c-2a5e25c9da85 4_42460512_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 42460512 TA T 540 PASS ATP8A1 Del intronic 1 9 MSH6 child 4_42460512_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8f344088-3290-11e6-9d24-ade56f39e758 7_129457598_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 129457598 AT A 480 PASS - Del - 1 9 MSH6 child 7_129457598_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 8f4429c8-329d-11e6-ae71-0c5325c9da85 1_215234848_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 215234848 GA G 480 PASS KCNK2 Del intronic 1 8 MSH6 child 1_215234848_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 8f47c75e-3284-11e6-888b-2d6e0d016689 18_5964636_GGA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 18 5964636 G GA 360 PASS L3MBTL4 Ins intronic 1 1 EXO1 child 18_5964636_GGA_EXO1 1 1 - - - - Ins 8f49230e-3277-11e6-8c34-46e27872c165 5_154876579_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 154876579 CT C 360 PASS - Del - 1 9 MSH6 child 5_154876579_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8f4d65ea-328b-11e6-a8ff-fbcd191589db 11_27536918_TTA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 11 27536918 T TA 360 PASS - Ins - 1 7 FANCC child 11_27536918_TTA_FANCC 1 1 - - - - Ins 8f588d94-3272-11e6-abaf-4642cab49462 6_67013243_AATTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 67013243 AATT A 360 PASS - Del - 3 3 MSH6 child 6_67013243_AATTA_MSH6 3 3 3 ATT 2 ATT Repeat-mediated 8f60850c-3287-11e6-a284-4b89a2c71c31 4_91668635_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 91668635 GA G 539 PASS CCSER1 Del intronic 1 9 MSH6 child 4_91668635_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8f61e9a6-3273-11e6-aafd-c7dee9d19ece 2_200654219_GAG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 200654219 GA G 300 PASS - Del - 1 5 CHK2 child 2_200654219_GAG_CHK2 1 1 1 A 4 A Repeat-mediated 8f62b9e2-3293-11e6-9280-9ce5d0959d89 11_118012749_CTAACTTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 11 118012749 CTAACTT C 540 PASS SCN4B Del intronic 6 1 POLB child 11_118012749_CTAACTTC_POLB 6 6 3 TAA 0 - Microhomology-mediated 8f6f29ba-328a-11e6-9c89-8d090e01a414 1_68545485_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 68545485 CT C 780 PASS - Del - 1 9 MSH6 child 1_68545485_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8f799710-3271-11e6-8418-1c5942c4520d 3_151432450_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 151432450 GA G 300 PASS - Del - 1 9 MSH6 child 3_151432450_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8f7baaba-3289-11e6-821d-8c090e01a414 13_35519090_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 35519090 GT G 540 PASS NBEA Del intronic 1 6 MSH6 child 13_35519090_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 8f90a48a-328c-11e6-abc8-b5d7faf1a024 8_16076301_CTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 8 16076301 CT C 360 PASS MSR1 Del upstream 1 9 POLM child 8_16076301_CTC_POLM 1 1 1 T 8 T Repeat-mediated 8f98e5d6-3283-11e6-9607-56b01ac527ab 4_94723530_AGTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 94723530 AGT A 480 PASS - Del - 2 7 FANCC child 4_94723530_AGTA_FANCC 2 2 2 GT 6 GT Repeat-mediated 8f9d8050-328d-11e6-bfa2-581f0e01a414 7_55925681_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 55925681 GA G 760 PASS SEPT14 Del intronic 1 9 MSH6 child 7_55925681_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 8fa18d82-3290-11e6-9432-c0e56f39e758 5_138907152_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 138907152 TA T 840 PASS UBE2D2 Del intronic 1 7 MSH6 child 5_138907152_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8fb6fa5a-328b-11e6-aa75-90c36f39e758 13_22151160_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 22151160 TA T 540 PASS MICU2 Del intronic 1 6 MSH6 child 13_22151160_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 8fc88ed8-3285-11e6-be43-0a6ea2c71c31 10_99753621_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 99753621 CT C 720 PASS CRTAC1 Del intronic 1 9 MSH6 child 10_99753621_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 8fcf34da-3326-11e6-91f6-970e147bb207 6_37784871_GCTG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 37784871 GCT G 300 PASS ZFAND3 Del upstream 2 3 EXO1 child 6_37784871_GCTG_EXO1 2 2 2 CT 2 CT Repeat-mediated 8fd41446-328b-11e6-aa75-90c36f39e758 13_22163753_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 22163753 CT C 480 PASS MICU2 Del intronic 1 5 MSH6 child 13_22163753_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 8fd4bc3e-3290-11e6-b81f-4ee66f39e758 8_55222698_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 55222698 AT A 480 PASS - Del - 1 8 MSH6 child 8_55222698_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 8fd562dc-329b-11e6-b549-1e5325c9da85 10_102356902_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 102356902 GT G 660 PASS - Del - 1 9 MSH6 child 10_102356902_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 8fdae9ba-3272-11e6-8418-1c5942c4520d 3_39344967_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 39344967 C CA 360 PASS - Ins - 1 9 MSH6 child 3_39344967_CCA_MSH6 1 1 - - - - Ins 8fdc0b9e-328e-11e6-92db-6c56f0f7a29c 1_15996705_ACCTA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 1 15996705 ACCT A 360 PASS DDI2 Del downstream 3 1 NEIL1 child 1_15996705_ACCTA_NEIL1 3 3 1 C 0 - Microhomology-mediated 8fdca99c-329c-11e6-aca6-b39fcc638e3d 2_181092231_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 181092231 TA T 480 PASS - Del - 1 9 MSH6 child 2_181092231_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 8fe12242-328d-11e6-8d77-b5d8191589db 7_105469900_AAAACA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 7 105469900 AAAAC A 600 PASS ATXN7L1 Del intronic 4 3 FANCC child 7_105469900_AAAACA_FANCC 4 4 4 AAAC 2 AAAC Repeat-mediated 8fec8e9a-328b-11e6-b43c-7ec36f39e758 16_3567041_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 3567041 TA T 540 PASS CLUAP1 Del intronic 1 7 MSH6 child 16_3567041_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 8feec946-329d-11e6-bc2c-2a5e25c9da85 4_42602698_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 42602698 CA C 300 PASS ATP8A1 Del intronic 1 5 MSH6 child 4_42602698_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 8ff673dc-3291-11e6-bb4c-05a29b6d3b88 3_86862807_CTTAC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 3 86862807 CTTA C 480 PASS - Del - 3 2 POLB child 3_86862807_CTTAC_POLB 3 3 3 TTA 1 TTA Repeat-mediated 90047e08-3289-11e6-8459-82090e01a414 12_16994402_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 16994402 CA C 900 PASS - Del - 1 8 MSH6 child 12_16994402_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 90049fb0-329c-11e6-a5cf-e5abcc638e3d 9_22067716_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 22067716 CT C 720 PASS - Del - 1 8 MSH6 child 9_22067716_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 90096e5c-3277-11e6-a71d-236235cec73b X_123982577_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 123982577 TA T 720 PASS TENM1 Del intronic 1 9 MSH6 child X_123982577_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 900a5dc2-328f-11e6-8954-6972fc77b11e 4_71994398_GTG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 4 71994398 GT G 480 PASS - Del - 1 4 POLE child 4_71994398_GTG_POLE 1 1 1 T 3 T Repeat-mediated 90169b44-328c-11e6-b2c7-5ecc977b3f23 2_84849397_CTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 2 84849397 CT C 660 PASS DNAH6 Del intronic 1 7 NEIL1 child 2_84849397_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated 90184e16-328d-11e6-b805-77090e01a414 2_25233788_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 25233788 C CT 300 PASS - Ins - 1 7 MSH6 child 2_25233788_CCT_MSH6 1 1 - - - - Ins 90187a9a-3296-11e6-bce0-be1ec7271a47 18_21117055_CAGC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 18 21117055 CAG C 300 PASS NPC1 Del intronic 2 2 CHK2 child 18_21117055_CAGC_CHK2 2 2 2 AG 1 AG Repeat-mediated 90270408-3321-11e6-ba78-2321f46126f1 19_40534170_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 19 40534170 AT A 300 PASS ZNF780B Del 3prime_UTR_variant 1 9 POLE child 19_40534170_ATA_POLE 1 1 1 T 8 T Repeat-mediated 90315812-328c-11e6-92c7-35ab4430f757 15_23977822_ATA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 15 23977822 AT A 540 PASS - Del - 1 7 POLE child 15_23977822_ATA_POLE 1 1 1 T 6 T Repeat-mediated 90412fe4-3287-11e6-b093-c9c7b0dab373 2_7316708_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 7316708 C CA 300 PASS - Ins - 1 5 MSH6 child 2_7316708_CCA_MSH6 1 1 - - - - Ins 904264e4-3274-11e6-a5d0-4fd14a47a305 2_191472846_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 191472846 TC T 600 PASS - Del - 1 5 MSH6 child 2_191472846_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 9043ee38-328b-11e6-9996-bebd38e8a824 X_92114342_GAG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 92114342 GA G 381 PASS - Del - 1 9 NUDT1 parent X_92114342_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated 904572ee-3295-11e6-b7af-6ffe6ca5563b 5_145967402_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 5 145967402 TA T 660 PASS PPP2R2B Del downstream 1 7 POLB child 5_145967402_TAT_POLB 1 1 1 A 6 A Repeat-mediated 904998ae-328d-11e6-9a04-1f6bfc77b11e 12_79463601_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 12 79463601 AT A 300 PASS SYT1 Del intronic 1 5 POLE child 12_79463601_ATA_POLE 1 1 1 T 4 T Repeat-mediated 904f4532-3275-11e6-868e-6b89c042253c 12_19637020_GGT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 12 19637020 G GT 420 PASS AEBP2 Ins intronic 1 5 CHK2 child 12_19637020_GGT_CHK2 1 1 - - - - Ins 9062bae2-328c-11e6-ac7a-a3c36f39e758 18_68934921_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 68934921 TA T 480 PASS - Del - 1 7 MSH6 child 18_68934921_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 906558b2-328a-11e6-94b1-74090e01a414 17_65024172_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 65024172 TA T 360 PASS CACNG4 Del intronic 1 9 MSH6 child 17_65024172_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9065b638-3292-11e6-b77d-2eef6f39e758 6_143741757_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 143741757 GA G 420 PASS ADAT2 Del downstream 1 7 MSH6 child 6_143741757_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 906be078-328b-11e6-9c89-8d090e01a414 1_145083594_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 145083594 TC T 720 PASS - Del - 1 4 MSH6 child 1_145083594_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 906c86b0-328e-11e6-ae83-5ae3191589db 6_47055661_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 6 47055661 GA G 420 PASS - Del - 1 9 FANCC child 6_47055661_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 906fd0fc-329a-11e6-9048-b49fcc638e3d 17_30641395_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 30641395 CT C 600 PASS RHBDL3 Del intronic 1 8 MSH6 child 17_30641395_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9085df6c-3292-11e6-9420-3d48a178171f 19_5955856_CAC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 19 5955856 CA C 480 PASS RANBP3 Del intronic 1 2 POLB child 19_5955856_CAC_POLB 1 1 1 A 1 A Repeat-mediated 908eb0c2-3253-11e6-bc65-c9667872c165 13_22682805_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 22682805 AT A 540 PASS - Del - 1 7 MSH6 child 13_22682805_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 90912c8a-328a-11e6-a80b-87090e01a414 11_77955053_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 77955053 CA C 360 PASS GAB2 Del intronic 1 8 MSH6 child 11_77955053_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 90999c7c-3270-11e6-a539-0e5542c4520d 7_113622146_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 113622146 GA G 300 PASS - Del - 1 4 MSH6 child 7_113622146_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 90acf1ee-328b-11e6-8459-82090e01a414 12_130778351_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 130778351 AT A 540 PASS - Del - 1 7 MSH6 child 12_130778351_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 90ba3962-3277-11e6-92d2-c259c225ee11 3_88058649_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 88058649 TA T 300 PASS - Del - 1 7 MSH6 child 3_88058649_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 90c0e572-3273-11e6-a8b6-76174530f757 12_50775579_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 12 50775579 TA T 360 PASS FAM186A Del intronic 1 6 EXO1 child 12_50775579_TAT_EXO1 1 1 1 A 5 A Repeat-mediated 90c4a034-3275-11e6-83cd-a472a178171f 4_35569040_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 35569040 GA G 660 PASS - Del - 1 7 MSH6 child 4_35569040_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 90c4efaa-3278-11e6-a391-f6d67d6a9fc7 6_71283329_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 71283329 CT C 540 PASS C6orf57 Del intronic 1 8 MSH6 child 6_71283329_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 90e507dc-328b-11e6-bd84-429305ad5bc4 1_9421603_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 9421603 AC A 480 PASS SPSB1 Del intronic 1 7 MSH6 child 1_9421603_ACA_MSH6 1 1 1 C 6 C Repeat-mediated 90e9fa8e-32a0-11e6-91d0-016425c9da85 7_17740510_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 17740510 A AT 660 PASS - Ins - 1 2 MSH6 child 7_17740510_AAT_MSH6 1 1 - - - - Ins 90ee2208-329b-11e6-9048-b49fcc638e3d 17_75095992_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 75095992 GT G 780 PASS SEC14L1 Del intronic 1 9 MSH6 child 17_75095992_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 90f7cd06-328e-11e6-8490-d04c1087d53a 2_228824276_CATC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 2 228824276 CAT C 300 PASS - Del - 2 1 POLE child 2_228824276_CATC_POLE 2 2 1 A 0 - Microhomology-mediated 90f98e5c-329d-11e6-a5cf-e5abcc638e3d 9_104494750_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 104494750 TA T 1020 PASS GRIN3A Del intronic 1 4 MSH6 child 9_104494750_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 90fc486c-3271-11e6-9d19-c216987b3f23 21_41640496_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 41640496 C CT 540 PASS DSCAM Ins intronic 1 1 MSH6 child 21_41640496_CCT_MSH6 1 1 - - - - Ins 910c838a-328f-11e6-a0b5-40d57098ee92 3_84261451_TTA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 3 84261451 T TA 480 PASS - Ins - 1 0 NUDT1 child 3_84261451_TTA_NUDT1 1 1 - - - - Ins 91105b50-3289-11e6-a284-4b89a2c71c31 4_79159500_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 79159500 A AT 420 PASS FRAS1 Ins intronic 1 5 MSH6 child 4_79159500_AAT_MSH6 1 1 - - - - Ins 91194d38-3283-11e6-aa13-78428e4678dd 5_77607589_GAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 77607589 GA G 660 PASS RNU6-183P Del downstream 1 9 EXO1 child 5_77607589_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 9122690c-3258-11e6-8cd9-139b7872c165 3_74844333_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 74844333 TA T 712 PASS - Del - 1 5 MSH6 child 3_74844333_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 91290e92-3276-11e6-bc24-bc6e3cfdbd24 6_27668153_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 27668153 TA T 480 PASS - Del - 1 9 MSH6 parent 6_27668153_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 912da352-3290-11e6-824e-0fb44430f757 7_89637334_CTC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 7 89637334 CT C 360 PASS - Del - 1 2 POLE child 7_89637334_CTC_POLE 1 1 1 T 1 T Repeat-mediated 913140ba-3287-11e6-86e9-d4770d016689 X_23869087_TTTA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 23869087 T TTA 540 PASS APOO Ins intronic 2 5 EXO1 child X_23869087_TTTA_EXO1 2 2 - - - - Ins 913c443a-328a-11e6-a19d-3c763adbad45 4_178589441_TAAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 178589441 TAA T 780 PASS - Del - 2 4 NUDT1 parent 4_178589441_TAAT_NUDT1 2 2 2 AA 2 A Repeat-mediated 9142f7cc-3270-11e6-9d19-c216987b3f23 21_22811066_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 22811066 CT C 600 PASS NCAM2 Del intronic 1 9 MSH6 child 21_22811066_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 91462ab0-32a1-11e6-a04f-c66a25c9da85 6_149076998_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 149076998 AT A 840 PASS UST Del intronic 1 6 MSH6 child 6_149076998_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 914856a2-3286-11e6-83c9-bcc47d6a9fc7 20_4110630_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 20 4110630 TA T 420 PASS - Del - 1 9 POLB child 20_4110630_TAT_POLB 1 1 1 A 8 A Repeat-mediated 91528536-328c-11e6-8770-3e160e01a414 9_76268971_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 76268971 TA T 360 PASS - Del - 1 7 MSH6 child 9_76268971_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 915b7192-3295-11e6-b38a-97f8d8b4fa2c 4_85208938_TAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 4 85208938 TA T 900 PASS RP11-8L2.1 Del intronic 1 9 NUDT1 child 4_85208938_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated 916435fa-3274-11e6-af88-fed9cde16804 3_174531065_TAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 3 174531065 TA T 660 PASS - Del - 1 8 NEIL1 child 3_174531065_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 91699c18-3254-11e6-81f9-42f212ae24cf 17_50313295_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 50313295 GA G 720 PASS - Del - 1 7 MSH6 child 17_50313295_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 9172e0e0-3293-11e6-92cf-bf2a0e01a414 6_137743961_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 137743961 T TA 360 PASS - Ins - 1 5 MSH6 child 6_137743961_TTA_MSH6 1 1 - - - - Ins 9182dc52-3275-11e6-a71d-236235cec73b X_19944628_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 19944628 TA T 300 PASS CXorf23 Del intronic 1 7 MSH6 child X_19944628_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9185b2d4-326f-11e6-bfba-13bf4a47a305 9_114829148_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 114829148 AT A 480 PASS SUSD1 Del intronic 1 6 MSH6 child 9_114829148_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9193726e-3276-11e6-83cd-a472a178171f 4_111408949_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 111408949 AT A 660 PASS ENPEP Del intronic 1 7 MSH6 child 4_111408949_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 91a449f0-328e-11e6-919e-92c36f39e758 2_205919616_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 205919616 GT G 480 PASS PARD3B Del intronic 1 8 MSH6 child 2_205919616_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 91a89640-3347-11e6-b0ff-c495e84777f6 10_55937827_AGGGTGATAATTGATTAATAATAAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 55937827 AGGGTGATAATTG ATTAATAATAAT 480 PASS PCDH15 Complex intronic 12 0 FANCC child 10_55937827_AGGGTGATAATTGATTAATAATAAT_FANCC 1 1 - - - - Complex 91acf184-326d-11e6-b9f4-5d1d694da5d2 14_83954953_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 83954953 TA T 480 PASS - Del - 1 9 MSH6 child 14_83954953_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 91aed296-328c-11e6-9c89-8d090e01a414 1_197668062_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 197668062 CA C 300 PASS DENND1B Del intronic 1 7 MSH6 child 1_197668062_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 91b5806e-3278-11e6-b10b-af9a12ae24cf 20_10801992_AAACCATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 20 10801992 AAACCAT A 360 PASS - Del - 6 1 NEIL1 child 20_10801992_AAACCATA_NEIL1 6 6 2 AA 0 - Microhomology-mediated 91b5abd0-332b-11e6-91f6-970e147bb207 6_170674810_CCA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 170674810 C CA 300 PASS FAM120B Ins intronic 1 1 EXO1 child 6_170674810_CCA_EXO1 1 1 - - - - Ins 91b629c8-3292-11e6-b81f-4ee66f39e758 8_37596535_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 37596535 G GT 540 PASS ERLIN2 Ins intronic 1 9 MSH6 child 8_37596535_GGT_MSH6 1 1 - - - - Ins 91c16fd0-3257-11e6-885f-d1947872c165 4_100446794_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 100446794 CA C 360 PASS C4orf17 Del intronic 1 8 MSH6 child 4_100446794_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 91cf4422-3287-11e6-b093-c9c7b0dab373 2_8006557_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 8006557 A AT 420 PASS - Ins - 1 6 MSH6 child 2_8006557_AAT_MSH6 1 1 - - - - Ins 91d31f3c-3284-11e6-a8af-066ea2c71c31 15_31112761_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 31112761 AT A 600 PASS - Del - 1 9 MSH6 child 15_31112761_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 91df2402-3271-11e6-abaf-4642cab49462 6_6750756_TAAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 6750756 TAA T 420 PASS - Del - 2 4 MSH6 child 6_6750756_TAAT_MSH6 2 2 2 AA 2 A Repeat-mediated 91ead01a-334b-11e6-8b31-52813cfdbd24 7_3210904_TTA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 7 3210904 T TA 300 PASS - Ins - 1 3 FANCC child 7_3210904_TTA_FANCC 1 1 - - - - Ins 91eff07e-329f-11e6-bc2c-2a5e25c9da85 4_170781935_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 170781935 TA T 600 PASS - Del - 1 6 MSH6 child 4_170781935_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 91f1ed96-329c-11e6-a5cf-e5abcc638e3d 9_22440134_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 22440134 CA C 600 PASS - Del - 1 8 MSH6 child 9_22440134_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 91f4d8e2-3285-11e6-99f7-076ea2c71c31 12_101201222_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 101201222 AT A 300 PASS ANO4 Del intronic 1 8 MSH6 child 12_101201222_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 91fe0758-328c-11e6-a0b5-40d57098ee92 3_16385997_CCTTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 3 16385997 CCTT C 540 PASS RFTN1 Del intronic 3 2 NUDT1 child 3_16385997_CCTTC_NUDT1 3 3 3 CTT 1 CTT Repeat-mediated 9204269e-3325-11e6-841a-c49690e2c2e6 6_56434176_GAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 6 56434176 GA G 540 PASS DST Del intronic 1 8 POLE child 6_56434176_GAG_POLE 1 1 1 A 7 A Repeat-mediated 92092788-3290-11e6-9230-fb250e01a414 3_174858321_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 174858321 AC A 420 PASS NAALADL2 Del intronic 1 1 MSH6 child 3_174858321_ACA_MSH6 1 1 0 - 0 C None 920b1b2a-3285-11e6-9546-b5936f39e758 15_81554111_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 81554111 GA G 720 PASS IL16 Del intronic 1 9 EXO1 child 15_81554111_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 920eab70-3292-11e6-9d24-ade56f39e758 7_100172384_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 100172384 C CA 420 PASS LRCH4 Ins 3prime_UTR_variant 1 1 MSH6 child 7_100172384_CCA_MSH6 1 1 - - - - Ins 9215c51e-328c-11e6-8f4b-33ab4430f757 13_29659917_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 13 29659917 CT C 480 PASS MTUS2 Del intronic 1 7 POLE child 13_29659917_CTC_POLE 1 1 1 T 6 T Repeat-mediated 921df9c6-327f-11e6-94df-1cfc028949d4 14_24220869_CAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 14 24220869 CA C 300 PASS - Del - 1 8 POLM child 14_24220869_CAC_POLM 1 1 1 A 7 A Repeat-mediated 92202052-329d-11e6-a5cf-e5abcc638e3d 9_104969836_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 104969836 AT A 300 PASS - Del - 1 9 MSH6 child 9_104969836_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 92287e9a-3320-11e6-84e3-a2cceab8d062 2_63978794_TCTCT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 2 63978794 TCTC T 1020 PASS - Del - 3 1 CHK2 parent 2_63978794_TCTCT_CHK2 3 3 2 CT 0 - Microhomology-mediated 922f8da6-326d-11e6-92dd-fda8977b3f23 10_75911857_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 75911857 AT A 360 PASS AP3M1 Del upstream 1 9 MSH6 child 10_75911857_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9232b588-3292-11e6-b3a9-d5afe7d0bdd7 4_30683429_GGA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 30683429 G GA 300 PASS - Ins - 1 7 FANCC child 4_30683429_GGA_FANCC 1 1 - - - - Ins 923ad65e-3289-11e6-8459-82090e01a414 12_17744157_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 17744157 CT C 420 PASS RP11-871F6.3 Del upstream 1 7 MSH6 child 12_17744157_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 923af950-326f-11e6-b5b8-e0c24a47a305 X_52070061_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 52070061 CA C 420 PASS - Del - 1 9 MSH6 child X_52070061_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 923b5952-3258-11e6-8cd9-139b7872c165 3_75356051_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 75356051 CA C 480 PASS - Del - 1 9 MSH6 child 3_75356051_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9241cc48-3284-11e6-99f7-076ea2c71c31 12_16557794_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 16557794 AT A 540 PASS - Del - 1 6 MSH6 child 12_16557794_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9246c79e-32a1-11e6-bc2c-2a5e25c9da85 4_101732127_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 101732127 G GA 660 PASS - Ins - 1 8 MSH6 child 4_101732127_GGA_MSH6 1 1 - - - - Ins 92482da8-3299-11e6-8de1-2d9afaf1a024 7_100009752_AGA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 100009752 AG A 480 PASS ZCWPW1 Del intronic 1 4 CHK2 child 7_100009752_AGA_CHK2 1 1 1 G 3 G Repeat-mediated 924a6fdc-3258-11e6-8cd9-139b7872c165 3_75364831_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 75364831 CT C 720 PASS - Del - 1 8 MSH6 child 3_75364831_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9252116e-3290-11e6-bc00-90df977b3f23 X_137972642_CAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA X 137972642 CA C 600 PASS FGF13 Del intronic 1 9 NEIL1 child X_137972642_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated 92560dd2-3286-11e6-bc08-5710147bb207 3_117920810_GAG . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 3 117920810 GA G 300 PASS RP11-384F7.1 Del intronic 1 2 FANCC child 3_117920810_GAG_FANCC 1 1 1 A 1 A Repeat-mediated 925c31a0-3275-11e6-83cd-a472a178171f 4_36230061_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 36230061 CT C 540 PASS ARAP2 Del intronic 1 9 MSH6 child 4_36230061_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 92676fec-3280-11e6-af96-5cfe684da5d2 13_107057823_CCTTCT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 13 107057823 C CTTCT 420 PASS - Ins - 4 0 NEIL1 child 13_107057823_CCTTCT_NEIL1 4 4 - - - - Ins 92877530-3294-11e6-a5e0-15ac3adbad45 1_223057218_CAC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 1 223057218 CA C 360 PASS - Del - 1 5 NEIL1 child 1_223057218_CAC_NEIL1 1 1 1 A 4 A Repeat-mediated 9291fb82-3284-11e6-a8af-066ea2c71c31 15_31339919_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 31339919 TA T 420 PASS TRPM1 Del intronic 1 6 MSH6 child 15_31339919_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 92923046-3277-11e6-a862-bc9becf1e924 1_83378136_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 83378136 A AT 540 PASS RP4-601K24.1 Ins intronic 1 5 MSH6 child 1_83378136_AAT_MSH6 1 1 - - - - Ins 9294129c-3328-11e6-bff4-e70b694da5d2 3_171838357_TGT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 3 171838357 TG T 660 PASS FNDC3B Del intronic 1 9 EXO1 child 3_171838357_TGT_EXO1 1 1 1 G 8 G Repeat-mediated 92945f24-3286-11e6-bb85-03a66f39e758 4_13091897_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 13091897 TA T 420 PASS - Del - 1 6 EXO1 child 4_13091897_TAT_EXO1 1 1 1 A 5 A Repeat-mediated 92957b9a-3284-11e6-a912-733e51c54cdd 13_58013769_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 13 58013769 GA G 540 PASS - Del - 1 9 EXO1 child 13_58013769_GAG_EXO1 1 1 1 A 8 A Repeat-mediated 929592f8-3291-11e6-ab3c-d6e1eff7a29c 21_34714716_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 21 34714716 CA C 425 PASS IFNAR1 Del intronic 1 8 NEIL1 child 21_34714716_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated 929855d8-3273-11e6-826a-adb6fa52e078 17_70055548_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 70055548 GA G 420 PASS SOX9-AS1 Del intronic 1 9 MSH6 child 17_70055548_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 929ae204-329a-11e6-bda6-065325c9da85 13_63130375_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 63130375 CA C 660 PASS - Del - 1 8 MSH6 child 13_63130375_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 92acc118-3272-11e6-abaf-4642cab49462 6_67667652_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 67667652 GA G 420 PASS - Del - 1 9 MSH6 child 6_67667652_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 92ad9dba-3289-11e6-9b74-edcd191589db 10_37649083_TAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 10 37649083 TA T 300 PASS ANKRD30A Del intronic 1 8 FANCC child 10_37649083_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 92b1f3a2-3346-11e6-bb83-9c61147bb207 14_97468222_CTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 14 97468222 CT C 360 PASS - Del - 1 9 FANCC child 14_97468222_CTC_FANCC 1 1 1 T 8 T Repeat-mediated 92bb42a8-329d-11e6-94ca-0aaecc638e3d X_54140851_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 54140851 GT G 480 PASS FAM120C Del intronic 1 9 MSH6 child X_54140851_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 92c5366e-3324-11e6-aa06-7ca120e7b7a8 7_67768791_CATAGC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 7 67768791 CATAG C 540 PASS - Del - 4 3 CHK2 child 7_67768791_CATAGC_CHK2 4 4 4 ATAG 2 ATAG Repeat-mediated 92c5f62e-328b-11e6-aa75-90c36f39e758 13_22889010_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 22889010 AT A 360 PASS - Del - 1 9 MSH6 child 13_22889010_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 92ca73c0-3290-11e6-9230-fb250e01a414 3_175082498_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 175082498 CT C 300 PASS NAALADL2 Del intronic 1 8 MSH6 child 3_175082498_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 92cfcdf2-329f-11e6-aea7-956725c9da85 3_68032453_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 68032453 TC T 360 PASS - Del - 1 1 MSH6 child 3_68032453_TCT_MSH6 1 1 0 - 0 C None 92d286cc-325a-11e6-971b-98a02aaffa45 5_167537212_TTA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 5 167537212 T TA 540 PASS TENM2 Ins intronic 1 1 POLM child 5_167537212_TTA_POLM 1 1 - - - - Ins 92d30afa-328e-11e6-bc12-79ae12ae24cf 8_117128475_CAC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 8 117128475 CA C 360 PASS LINC00536 Del intronic 1 8 CHK2 child 8_117128475_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 92e639ac-328b-11e6-a2c2-fa8aa178171f 8_130874734_TGAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 8 130874734 TGA T 300 PASS FAM49B Del intronic 2 3 FANCC child 8_130874734_TGAT_FANCC 2 2 2 GA 2 GA Repeat-mediated 92eadadc-326f-11e6-8a6f-43b190e2c2e6 11_37270062_GTG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 11 37270062 GT G 420 PASS - Del - 1 9 POLB child 11_37270062_GTG_POLB 1 1 1 T 8 T Repeat-mediated 92ed19c6-3276-11e6-9e0f-7959cab49462 7_73995350_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 73995350 TG T 420 PASS GTF2IRD1 Del intronic 1 8 MSH6 child 7_73995350_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 92f1bbb4-3287-11e6-9bc8-5079a178171f 15_84485401_TAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 15 84485401 TA T 900 PASS ADAMTSL3 Del intronic 1 2 FANCC child 15_84485401_TAT_FANCC 1 1 1 A 1 A Repeat-mediated 92f4e5d2-3273-11e6-8f10-bfc27872c165 4_177256206_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 177256206 CT C 360 PASS SPCS3 Del downstream 1 9 EXO1 parent 4_177256206_CTC_EXO1 1 1 1 T 8 T Repeat-mediated 92f5e12a-327e-11e6-97a4-78cfaa716c52 5_20193096_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 5 20193096 GA G 540 PASS CDH18 Del intronic 1 2 POLB parent 5_20193096_GAG_POLB 1 1 1 A 1 A Repeat-mediated 92ffb86a-3285-11e6-9e78-7d3e51c54cdd 2_116030362_CTC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 116030362 CT C 660 PASS DPP10 Del intronic 1 5 EXO1 child 2_116030362_CTC_EXO1 1 1 1 T 4 T Repeat-mediated 9302f94e-328f-11e6-9432-c0e56f39e758 5_67936963_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 67936963 CT C 660 PASS - Del - 1 8 MSH6 child 5_67936963_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9303abf0-3285-11e6-b093-c9c7b0dab373 2_90452356_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 90452356 CT C 283 PASS - Del - 1 1 MSH6 child 2_90452356_CTC_MSH6 1 1 0 - 0 T None 93058950-3273-11e6-aafd-c7dee9d19ece 2_201624704_AATTTGTCATTA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 201624704 AATTTGTCATT A 300 PASS - Del - 10 1 CHK2 child 2_201624704_AATTTGTCATTA_CHK2 10 >=10 0 - 0 - None 93094ee6-327d-11e6-809e-fbdaeff7a29c 12_110782353_TACT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 12 110782353 TAC T 1080 PASS ATP2A2 Del intronic 2 5 POLB parent 12_110782353_TACT_POLB 2 2 2 AC 4 AC Repeat-mediated 93147664-328b-11e6-8106-81c36f39e758 19_3731920_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 3731920 TC T 960 PASS TJP3 Del intronic 1 6 MSH6 child 19_3731920_TCT_MSH6 1 1 1 C 5 C Repeat-mediated 931a5e4e-3272-11e6-881e-8d938a20d9eb 15_85321964_CTCTTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 15 85321964 CTCTT C 420 PASS ZNF592 Del upstream 4 1 CHK2 child 15_85321964_CTCTTC_CHK2 4 4 3 TCT 0 - Microhomology-mediated 931e00be-3270-11e6-b923-6726694da5d2 5_76570836_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 76570836 CA C 300 PASS PDE8B Del intronic 1 8 MSH6 child 5_76570836_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 932181ac-3276-11e6-8717-f13d8a20d9eb 6_90884282_GAG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 6 90884282 GA G 600 PASS BACH2 Del intronic 1 8 CHK2 child 6_90884282_GAG_CHK2 1 1 1 A 7 A Repeat-mediated 93268248-3289-11e6-9021-40b47098ee92 13_54749556_CTTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 13 54749556 CTT C 480 PASS - Del - 2 3 NUDT1 child 13_54749556_CTTC_NUDT1 2 2 1 T 0 - Microhomology-mediated 932e2714-329d-11e6-b696-dd6225c9da85 5_32079691_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 32079691 TC T 720 PASS PDZD2 Del intronic 1 5 MSH6 child 5_32079691_TCT_MSH6 1 1 1 C 4 C Repeat-mediated 9335169e-3277-11e6-a8d8-3e6075253f64 3_147919829_TTTCT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 147919829 TTTC T 840 PASS RP11-501O2.4 Del intronic 3 3 FANCC child 3_147919829_TTTCT_FANCC 3 3 3 TTC 2 TTC Repeat-mediated 933b4c02-3255-11e6-8a2a-3af212ae24cf 16_27974329_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 27974329 C CT 660 PASS GSG1L Ins intronic 1 2 MSH6 child 16_27974329_CCT_MSH6 1 1 - - - - Ins 934a89f4-3275-11e6-a71d-236235cec73b X_20801654_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 20801654 GA G 360 PASS - Del - 1 5 MSH6 child X_20801654_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 934cc250-3284-11e6-9daa-026ea2c71c31 14_40931000_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 40931000 CA C 300 PASS - Del - 1 8 MSH6 child 14_40931000_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 934de6fa-3291-11e6-8d00-b1b0e7d0bdd7 5_126329375_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 126329375 GA G 360 PASS MARCH3 Del intronic 1 8 FANCC child 5_126329375_GAG_FANCC 1 1 1 A 7 A Repeat-mediated 93514834-328e-11e6-bec1-ca1d0e01a414 X_107708846_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 107708846 AT A 360 PASS COL4A5 Del intronic 1 7 MSH6 child X_107708846_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 9351692a-3277-11e6-9d67-093b98ba1142 4_56732804_GATG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 4 56732804 GAT G 300 PASS EXOC1 Del intronic 2 1 POLM child 4_56732804_GATG_POLM 2 2 1 A 0 - Microhomology-mediated 93519d3e-3324-11e6-8b24-4ab97d6a9fc7 4_5455350_GCG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 4 5455350 GC G 600 PASS STK32B Del intronic 1 1 EXO1 child 4_5455350_GCG_EXO1 1 1 0 - 0 C None 935a1ece-3288-11e6-a7ff-5779a178171f 10_60817607_CCGT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 60817607 C CGT 540 PASS - Ins - 2 6 FANCC child 10_60817607_CCGT_FANCC 2 2 - - - - Ins 935da89a-328e-11e6-8f3c-a6a9cdacbbbf 1_115587296_TAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 1 115587296 TA T 360 PASS TSPAN2 Del downstream 1 6 POLB child 1_115587296_TAT_POLB 1 1 1 A 5 A Repeat-mediated 93754a6e-3288-11e6-b9eb-c78fa2c71c31 6_67996009_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 67996009 TA T 480 PASS - Del - 1 8 MSH6 child 6_67996009_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9381979c-328d-11e6-ac7a-a3c36f39e758 18_55212042_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 55212042 C CA 360 PASS FECH Ins downstream 1 7 MSH6 child 18_55212042_CCA_MSH6 1 1 - - - - Ins 938244c8-3254-11e6-81f9-42f212ae24cf 17_50941633_TCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 50941633 TC T 420 PASS - Del - 1 4 MSH6 child 17_50941633_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 9382fd1a-328f-11e6-81d1-7ea5e7d0bdd7 3_196048550_TGTGT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 3 196048550 TGTG T 300 PASS TM4SF19 Del downstream 3 2 POLM child 3_196048550_TGTGT_POLM 3 3 3 GTG 1 GTG Repeat-mediated 938aa6fa-3285-11e6-b930-8f14987b3f23 4_88674409_GCG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 4 88674409 GC G 420 PASS - Del - 1 6 NEIL1 parent 4_88674409_GCG_NEIL1 1 1 1 C 5 C Repeat-mediated 939d78fa-327d-11e6-8723-889be7d0bdd7 2_149175377_GTG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 2 149175377 GT G 540 PASS MBD5 Del intronic 1 9 NUDT1 child 2_149175377_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated 939f6536-328a-11e6-b805-77090e01a414 2_85755786_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 85755786 TA T 480 PASS - Del - 1 8 MSH6 child 2_85755786_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 93ad028e-328c-11e6-919e-92c36f39e758 2_70382931_CAAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 70382931 CAA C 300 PASS C2orf42 Del intronic 2 9 MSH6 child 2_70382931_CAAC_MSH6 2 2 2 AA 7 A Repeat-mediated 93b7cab6-3296-11e6-8fa8-1766a178171f 4_86443164_TTAAAAAAT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 4 86443164 TTAAAAAA T 420 PASS ARHGAP24 Del intronic 7 1 NEIL1 child 4_86443164_TTAAAAAAT_NEIL1 7 7 0 - 0 - None 93bec088-329a-11e6-aca6-b39fcc638e3d 2_54731613_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 54731613 GA G 420 PASS SPTBN1 Del intronic 1 8 MSH6 child 2_54731613_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 93c538b2-3274-11e6-8d20-7365cde16804 5_82862402_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 82862402 CT C 300 PASS VCAN Del intronic 1 9 MSH6 parent 5_82862402_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 93c5ac64-329e-11e6-b696-dd6225c9da85 5_95134319_CATC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 95134319 CAT C 780 PASS RHOBTB3 Del downstream 2 2 MSH6 child 5_95134319_CATC_MSH6 2 2 2 AT 1 AT Repeat-mediated 93c642a6-3275-11e6-86e1-8d021ea8ec0e X_133402740_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA X 133402740 AT A 300 PASS - Del - 1 2 POLB child X_133402740_ATA_POLB 1 1 1 T 1 T Repeat-mediated 93c6e5e2-3326-11e6-9eb4-dd99cf737e61 8_101318345_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 101318345 AT A 420 PASS RNF19A Del upstream 1 5 EXO1 child 8_101318345_ATA_EXO1 1 1 1 T 4 T Repeat-mediated 93cd2948-3286-11e6-a32f-5b79a178171f 11_62513884_AGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCAGACTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGGTTGTTTTTTTTTTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTTCCCCAGGCTGGAATGCAGTGGTGTGATCTTGGCTTGCTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGGCTTGGCCGCCAAGCAATTAGCTGGGACCACAGGTGTGTGCACACTGACATGCCTGCCTAATTTTTGTATTTTTAGTAGAGACAGA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 11 62513884 AGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCAGACTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGGTTGTTTTTTTTTTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTTCCCCAGGCTGGAATGCAGTGGTGTGATCTTGGCTTGCTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGGCTTGGCCGCCAAGCAATTAGCTGGGACCACAGGTGTGTGCACACTGACATGCCTGCCTAATTTTTGTATTTTTAGTAGAGACAG A 300 PASS ZBTB3 Del downstream 321 1 FANCC child 11_62513884_AGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCAGACTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGGTTGTTTTTTTTTTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTTCCCCAGGCTGGAATGCAGTGGTGTGATCTTGGCTTGCTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGGCTTGGCCGCCAAGCAATTAGCTGGGACCACAGGTGTGTGCACACTGACATGCCTGCCTAATTTTTGTATTTTTAGTAGAGACAGA_FANCC 321 >=10 42 GGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCT 0 - Microhomology-mediated 93d13c8e-3256-11e6-acc5-308412ae24cf 5_15622013_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 15622013 AT A 360 PASS FBXL7 Del intronic 1 9 MSH6 child 5_15622013_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 93d60b8c-329d-11e6-8069-175325c9da85 12_80132477_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 80132477 A AT 600 PASS RP11-530C5.1 Ins intronic 1 7 MSH6 child 12_80132477_AAT_MSH6 1 1 - - - - Ins 93de2d8a-3293-11e6-b27b-6becb41afd22 17_67902221_GAG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 17 67902221 GA G 300 PASS AC003051.1 Del downstream 1 8 NEIL1 child 17_67902221_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 93e2c8e4-328f-11e6-bd84-429305ad5bc4 1_245023324_TTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 245023324 T TG 300 PASS HNRNPU Ins intronic 1 2 MSH6 child 1_245023324_TTG_MSH6 1 1 - - - - Ins 93e82210-3273-11e6-8f62-6fa664f80bad 7_120424569_ATGA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 7 120424569 ATG A 720 PASS TSPAN12 Del downstream 2 4 EXO1 parent 7_120424569_ATGA_EXO1 2 2 2 TG 3 TG Repeat-mediated 93f421f2-3276-11e6-83cd-a472a178171f 4_112087532_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 112087532 CA C 420 PASS - Del - 1 8 MSH6 child 4_112087532_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 93f7f04a-326f-11e6-ae6c-8cc5620e6611 14_57241567_CAAAAATGTTGCTTGGGGC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 14 57241567 CAAAAATGTTGCTTGGGG C 840 PASS - Del - 17 1 EXO1 parent 14_57241567_CAAAAATGTTGCTTGGGGC_EXO1 17 >=10 4 AAAA 0 - Microhomology-mediated 93fc0a24-3272-11e6-8f33-a6d9cde16804 11_20068613_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 20068613 AT A 780 PASS NAV2 Del intronic 1 9 MSH6 child 11_20068613_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 93ff04a0-3276-11e6-901f-2d6266a58581 3_71963030_AAAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 3 71963030 A AAT 420 PASS - Ins - 2 5 NUDT1 child 3_71963030_AAAT_NUDT1 2 2 - - - - Ins 940451aa-3292-11e6-8669-5f48a178171f 15_22566506_AGA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 15 22566506 AG A 360 PASS - Del - 1 2 NEIL1 child 15_22566506_AGA_NEIL1 1 1 1 G 1 G Repeat-mediated 94049654-328a-11e6-b805-77090e01a414 2_85825693_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 85825693 TA T 420 PASS TMEM150A Del 3prime_UTR_variant 1 8 MSH6 child 2_85825693_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 940e0256-3281-11e6-b503-d18f38e8a824 14_59041607_ATGTA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 14 59041607 ATGT A 840 PASS - Del - 3 2 POLE parent 14_59041607_ATGTA_POLE 3 3 3 TGT 1 TGT Repeat-mediated 94145c26-3297-11e6-8876-266aa178171f 3_72117307_ATA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 3 72117307 AT A 300 PASS LINC00877 Del intronic 1 8 NEIL1 child 3_72117307_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 9414c486-326f-11e6-9309-bdc34a47a305 8_28663764_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 28663764 CA C 300 PASS INTS9 Del intronic 1 8 MSH6 child 8_28663764_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9419382a-328f-11e6-8e48-791e0e01a414 8_137198160_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 137198160 TA T 300 PASS - Del - 1 5 MSH6 child 8_137198160_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 941a6f70-3257-11e6-9d5a-0c8112ae24cf 9_132379961_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 132379961 TG T 420 PASS C9orf50 Del intronic 1 1 MSH6 child 9_132379961_TGT_MSH6 1 1 0 - 0 G None 941cdb90-3255-11e6-aedc-3df212ae24cf 19_23595056_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 23595056 C CT 420 PASS CTB-175P5.4 Ins upstream 1 3 MSH6 child 19_23595056_CCT_MSH6 1 1 - - - - Ins 941d4722-3289-11e6-8b67-086ea2c71c31 1_227524984_TTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 227524984 T TG 660 PASS - Ins - 1 3 MSH6 child 1_227524984_TTG_MSH6 1 1 - - - - Ins 94231a62-328e-11e6-bec1-ca1d0e01a414 X_107960701_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 107960701 AT A 300 PASS - Del - 1 9 MSH6 child X_107960701_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9424b936-3283-11e6-b857-6115038949d4 5_84902955_GAG . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 5 84902955 GA G 420 PASS - Del - 1 4 POLM child 5_84902955_GAG_POLM 1 1 1 A 3 A Repeat-mediated 9425c72c-326f-11e6-92dd-fda8977b3f23 10_83053796_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 83053796 G GT 540 PASS - Ins - 1 6 MSH6 child 10_83053796_GGT_MSH6 1 1 - - - - Ins 94384990-329e-11e6-b696-dd6225c9da85 5_95265894_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 95265894 GA G 900 PASS ELL2 Del intronic 1 8 MSH6 child 5_95265894_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 943c3be2-3323-11e6-ada1-2957fc77b11e 5_43448944_CAC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 5 43448944 CA C 420 PASS C5orf28 Del intronic 1 9 POLE child 5_43448944_CAC_POLE 1 1 1 A 8 A Repeat-mediated 944324b2-3291-11e6-9432-c0e56f39e758 5_21058855_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 21058855 C CT 360 PASS - Ins - 1 6 MSH6 child 5_21058855_CCT_MSH6 1 1 - - - - Ins 9446710a-329e-11e6-9c44-d26625c9da85 21_18882974_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 18882974 AT A 360 PASS CXADR Del upstream 1 6 MSH6 child 21_18882974_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 94468fc8-3258-11e6-885f-d1947872c165 4_170802239_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 170802239 TA T 300 PASS - Del - 1 8 MSH6 child 4_170802239_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 944c77f6-328c-11e6-a7cf-80090e01a414 15_44808071_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 44808071 C CA 360 PASS CTDSPL2 Ins intronic 1 8 MSH6 child 15_44808071_CCA_MSH6 1 1 - - - - Ins 944dffca-3284-11e6-821e-69f1bbe6aa09 16_19386278_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 19386278 CT C 420 PASS CTA-363E6.2 Del intronic 1 8 MSH6 child 16_19386278_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9452d4ce-3288-11e6-a284-4b89a2c71c31 4_185290947_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 185290947 CA C 300 PASS RP11-290F5.1 Del nc_variant 1 9 MSH6 child 4_185290947_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 94558998-329d-11e6-94ca-0aaecc638e3d X_54401640_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 54401640 CT C 420 PASS - Del - 1 8 MSH6 child X_54401640_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 94588988-3273-11e6-98e1-30573cfdbd24 9_35270584_GTG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 9 35270584 GT G 300 PASS UNC13B Del intronic 1 9 MSH6 parent 9_35270584_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 94595ffa-328e-11e6-a278-48230e01a414 21_24500902_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 24500902 G GA 480 PASS AP001255.2 Ins intronic 1 7 MSH6 child 21_24500902_GGA_MSH6 1 1 - - - - Ins 945bad72-328a-11e6-9c89-8d090e01a414 1_69890174_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 69890174 CT C 480 PASS - Del - 1 6 MSH6 child 1_69890174_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 9464686a-3274-11e6-946d-9c2bc7271a47 2_136584470_AAACA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 2 136584470 AAAC A 540 PASS LCT Del intronic 3 2 POLB child 2_136584470_AAACA_POLB 3 3 3 AAC 1 AAC Repeat-mediated 9465ee8c-3284-11e6-a722-38d09b6d3b88 3_52565685_TGGGTGGGT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 52565685 TGGGTGGG T 660 PASS NT5DC2 Del intronic 7 2 EXO1 child 3_52565685_TGGGTGGGT_EXO1 7 7 7 GGGTGGG 1 GGGTGGG Repeat-mediated 946754e6-3277-11e6-92d2-c259c225ee11 3_88908151_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 88908151 GA G 480 PASS - Del - 1 9 MSH6 child 3_88908151_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 94698114-328e-11e6-919e-92c36f39e758 2_206641185_GCG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 206641185 GC G 540 PASS NRP2 Del frameshift 1 4 MSH6 child 2_206641185_GCG_MSH6 1 1 1 C 3 C Repeat-mediated 946e5428-3275-11e6-b96a-e20a1ea8ec0e 7_96913723_TAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 7 96913723 TA T 360 PASS - Del - 1 6 FANCC child 7_96913723_TAT_FANCC 1 1 1 A 5 A Repeat-mediated 947099de-3286-11e6-a8af-066ea2c71c31 15_45988731_TTTCCTGCCTGCC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 45988731 T TTCCTGCCTGCC 300 PASS - Ins - 11 0 MSH6 child 15_45988731_TTTCCTGCCTGCC_MSH6 11 >=10 - - - - Ins 948aebea-3272-11e6-8325-b737c225ee11 1_247650391_GTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 1 247650391 GT G 480 PASS - Del - 1 7 NUDT1 child 1_247650391_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated 94953d00-3274-11e6-a5d0-4fd14a47a305 2_192887732_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 192887732 CT C 300 PASS TMEFF2 Del intronic 1 9 MSH6 child 2_192887732_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 949608b2-328c-11e6-ac7a-a3c36f39e758 18_69951177_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 69951177 CA C 540 PASS - Del - 1 8 MSH6 child 18_69951177_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 949f80d8-329e-11e6-8c2e-3f6625c9da85 22_36997442_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 36997442 TC T 1140 PASS CACNG2 Del intronic 1 1 MSH6 child 22_36997442_TCT_MSH6 1 1 0 - 0 C None 94abcd82-3296-11e6-a24b-ac3c7a852e0e 6_138888396_CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACTCCTCCTGAGTA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 6 138888396 CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACT CCTCCTGAGTA 360 PASS NHSL1 Complex intronic 1258 0 CHK2 child 6_138888396_CTGGAACTATAGGCACACACCACCACACTTGACTACTTTTTCTATTTTTTTGTAGAGACAAGGTTTCGTCGTGTTCCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGTTATGCCCACTTCGGCCTCCGAAAATGTTGGGATAACAAGCATGAGCCACCACGCCTGGCCCAGGAAGCTATTCCTAAGTCCCACCAATTTAAGGATTTTATTATCAGAAATAGATCACAGCTATTTACATGGAAACAGGATCTTGACTTTTGACCTAGCTGCTTTTGGTTTTTCATGTCATTTTTCTCCACTGTAATATCTGGTCATTAGTAATCTAATTATGTGCAAGGATCCTGCTTTCTGCAACTATTTTATTAGGAGAAAAACTGGGATGAAATTACTTTAAATAGATCCAACTCCCACACTCAAAAATTGATTATCTAGTATATGGATTATTCATTACCCTTGATGCCTAGTATGGTCATTCTCTGGCCATTTTTGTAGTGGCTGAGAAGGGAGGACACTGACATTCAAATGATTCAAAGCTGGTAACATTACTAGTCTGTACGATAAAGTCCAGAAGGAAAGGATGAAACATTGTTCAAAGCAAGGCTTTGCATGTCAATTACCTTCTCTATCTGCTGACCTGCCAATACCAGGATCATCAATCACGCTTCTGCCCAGCTAAATGGAGAGCTGGGGATACAACAAAACAAGCTCTGCTCAATGAGAAGACGGACACCCCATATGATTCCACCTCTTTTAGTTTTATTTGAGTGAGCAAGAAAGGGAAAGCACAGAATAAATACTACTAGTCATTAGTTTTCCTCAAGGACCTTCCACAGTGCTGGAAAAGCAGCAGGCACTCATTAAATCTTGTTCAGTTAAATGCTAACAGTTAGAAGACCATGCAAAACATGAAAATGTTCCAGATAAAGTTCCTTTATGCGGACCTTCTCATCTAGGTCATCGTGTTGCACTTTTTCACAATTATCCTACATTTTCTCTTTAACCCCCCTGCTTTAGATGTCTTATTTGCTTCTCCATTTAAGCATGAACTCCATGACTTCAGGGCCTGAGTGCTATCTTTCTTTGTATCCTGCACATAGTATTCAGTAATGATTCCACCAATAAATGCTCTCACAACTTCACGTGAAAAGTTACATATTGTCTTATCTACCACTGCATTCCACTTTTTTACTATAAAGAAGACACTGATTCACACCCTTGATTTGTATGGCTAATTAAGTCAAAACATCATCTACTACTCCTCCTGAGTA_CHK2 1248 >=10 - - - - Complex 94adf4c6-3274-11e6-b747-d9deed3c4f5d X_81014141_AGA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA X 81014141 AG A 480 PASS - Del - 1 2 MSH6 parent X_81014141_AGA_MSH6 1 1 1 G 1 G Repeat-mediated 94c20f50-3347-11e6-a9cc-a0a270cce0de 2_107671499_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 107671499 AT A 420 PASS - Del - 1 9 FANCC child 2_107671499_ATA_FANCC 1 1 1 T 8 T Repeat-mediated 94c43850-3272-11e6-aebf-545f42c4520d 5_112123091_TTAAAGT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 5 112123091 TTAAAG T 720 PASS APC Del intronic 5 1 POLB child 5_112123091_TTAAAGT_POLB 5 5 3 TAA 0 - Microhomology-mediated 94c57464-3276-11e6-83cd-a472a178171f 4_112289585_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 112289585 AT A 538 PASS - Del - 1 7 MSH6 child 4_112289585_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 94c68cc4-3275-11e6-9e0f-7959cab49462 7_9414179_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 9414179 GA G 600 PASS - Del - 1 8 MSH6 child 7_9414179_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 94cad5a8-3325-11e6-931e-f67da78019ab 3_42156703_GTG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 3 42156703 GT G 780 PASS TRAK1 Del intronic 1 4 POLE child 3_42156703_GTG_POLE 1 1 1 T 3 T Repeat-mediated 94d645d8-3275-11e6-ab69-1c1607e9a829 9_81399195_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 81399195 TA T 420 PASS - Del - 1 9 MSH6 child 9_81399195_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 94e35948-3258-11e6-8340-da9012ae24cf 6_9397745_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 9397745 CT C 480 PASS - Del - 1 9 MSH6 child 6_9397745_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 94ea51c4-328c-11e6-8e48-791e0e01a414 8_8211490_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 8211490 GA G 300 PASS SGK223 Del intronic 1 9 MSH6 child 8_8211490_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 94ee5144-3277-11e6-a5d0-4fd14a47a305 2_193998605_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 193998605 G GA 300 PASS - Ins - 1 8 MSH6 child 2_193998605_GGA_MSH6 1 1 - - - - Ins 94ef8ebc-3289-11e6-a5b3-3f1ebce6aa09 7_142952140_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 142952140 G GA 600 PASS - Ins - 1 8 MSH6 child 7_142952140_GGA_MSH6 1 1 - - - - Ins 94f5a37c-3277-11e6-92d2-c259c225ee11 3_89080455_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 89080455 AT A 540 PASS - Del - 1 3 MSH6 child 3_89080455_ATA_MSH6 1 1 1 T 2 T Repeat-mediated 9500911a-3277-11e6-bc24-bc6e3cfdbd24 6_98102337_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 98102337 GA G 720 PASS - Del - 1 9 MSH6 parent 6_98102337_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 950cb662-3294-11e6-957b-aef8d8b4fa2c 8_23338829_CTGC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 8 23338829 CTG C 360 PASS CTC-756D1.2 Del intronic 2 1 NUDT1 child 8_23338829_CTGC_NUDT1 2 2 1 T 0 - Microhomology-mediated 950eb170-329d-11e6-b549-1e5325c9da85 10_92599201_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 92599201 G GA 960 PASS HTR7 Ins intronic 1 8 MSH6 child 10_92599201_GGA_MSH6 1 1 - - - - Ins 95180fe4-3285-11e6-99f7-076ea2c71c31 12_102230013_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 102230013 TG T 540 PASS RNA5SP369 Del upstream 1 6 MSH6 child 12_102230013_TGT_MSH6 1 1 1 G 5 G Repeat-mediated 9518fdd4-328d-11e6-b6a6-1f1e0e01a414 4_68078160_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 68078160 CA C 360 PASS - Del - 1 8 MSH6 child 4_68078160_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 951ba394-3275-11e6-ab69-1c1607e9a829 9_81526296_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 81526296 TA T 360 PASS - Del - 1 9 MSH6 child 9_81526296_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 951dfcd8-3276-11e6-92d2-c259c225ee11 3_18990009_TTCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 18990009 TTC T 300 PASS - Del - 2 1 MSH6 child 3_18990009_TTCT_MSH6 2 2 0 - 0 - None 95284414-3284-11e6-870e-6af1bbe6aa09 19_11242372_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 11242372 AC A 480 PASS LDLR Del 3prime_UTR_variant 1 5 MSH6 child 19_11242372_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 9532f5e6-3273-11e6-a390-fc104530f757 1_193413907_TGATAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 193413907 TGATA T 710 PASS - Del - 4 1 FANCC child 1_193413907_TGATAT_FANCC 4 4 1 G 0 - Microhomology-mediated 9536b184-32a2-11e6-bc66-17b4cc638e3d 8_79958164_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 79958164 C CA 420 PASS - Ins - 1 9 MSH6 child 8_79958164_CCA_MSH6 1 1 - - - - Ins 95391d02-3289-11e6-b805-77090e01a414 2_26393716_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 26393716 CT C 300 PASS GAREML Del upstream 1 2 MSH6 child 2_26393716_CTC_MSH6 1 1 1 T 1 T Repeat-mediated 953b02a6-3285-11e6-a8af-066ea2c71c31 15_75260665_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 75260665 AT A 258 PASS - Del - 1 9 MSH6 child 15_75260665_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 953ea4fe-328c-11e6-b43c-7ec36f39e758 16_63862842_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 63862842 AT A 300 PASS - Del - 1 9 MSH6 child 16_63862842_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 95491efa-3284-11e6-873a-cd2d36fc2f7d 8_50633018_CTC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 8 50633018 CT C 300 PASS - Del - 1 8 NUDT1 child 8_50633018_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated 9549f4f2-329c-11e6-a5cf-e5abcc638e3d 9_23515749_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 23515749 CA C 600 PASS - Del - 1 8 MSH6 child 9_23515749_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 954e8850-328d-11e6-8b82-18a5e7d0bdd7 15_20462835_CGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCTATTATTATTTTTTTAAGAGTCAGGATCTCACTCTGTTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 15 20462835 CGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCTATTATTATTTTTTTAAGAGTCAGGATCTCACTCTGTT C 264 PASS - Del - 299 1 FANCC child 15_20462835_CGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCTATTATTATTTTTTTAAGAGTCAGGATCTCACTCTGTTC_FANCC 299 >=10 21 GCCCAGGCTGGAGTGCAGTGG 0 - Microhomology-mediated 9550de9c-3289-11e6-821d-8c090e01a414 13_37005368_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 37005368 TA T 480 PASS CCNA1 Del upstream 1 7 MSH6 child 13_37005368_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 95513c52-3284-11e6-8ebc-68f1bbe6aa09 18_25414485_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 25414485 AT A 480 PASS - Del - 1 9 MSH6 child 18_25414485_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 95571ef0-3276-11e6-998e-ba48fa52e078 8_60313635_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 60313635 GT G 480 PASS - Del - 1 9 MSH6 child 8_60313635_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 95580f26-3272-11e6-b332-88ba7d6a9fc7 15_26205673_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 26205673 AT A 480 PASS RP11-1084I9.1 Del intronic 1 9 MSH6 child 15_26205673_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 955d13d4-326f-11e6-a16f-981f1daa6045 19_33003423_TCT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 19 33003423 TC T 660 PASS - Del - 1 5 NUDT1 child 19_33003423_TCT_NUDT1 1 1 1 C 4 C Repeat-mediated 9560c882-3272-11e6-b8ae-92c57872c165 14_32038392_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 32038392 GT G 420 PASS NUBPL Del intronic 1 8 MSH6 child 14_32038392_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 956628f0-3285-11e6-be43-0a6ea2c71c31 10_101506264_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 101506264 TA T 540 PASS CUTC Del intronic 1 8 MSH6 child 10_101506264_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9579b708-3285-11e6-90da-f3a469062303 6_103977728_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 103977728 TA T 360 PASS - Del - 1 8 FANCC child 6_103977728_TAT_FANCC 1 1 1 A 7 A Repeat-mediated 957c8920-3284-11e6-8ebc-68f1bbe6aa09 18_25517286_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 25517286 GT G 360 PASS - Del - 1 8 MSH6 child 18_25517286_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 957f2644-3289-11e6-aff5-85090e01a414 16_17105948_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 17105948 GA G 780 PASS - Del - 1 8 MSH6 child 16_17105948_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9580ec98-329a-11e6-bda6-065325c9da85 13_64030269_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 64030269 AC A 720 PASS - Del - 1 5 MSH6 child 13_64030269_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 95820658-326f-11e6-9d68-ac9acab49462 15_44808071_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 44808071 C CA 720 PASS CTDSPL2 Ins intronic 1 8 MSH6 child 15_44808071_CCA_MSH6 1 1 - - - - Ins 958de11a-328f-11e6-8e48-791e0e01a414 8_137585869_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 137585869 GT G 300 PASS RP11-30J20.1 Del intronic 1 9 MSH6 child 8_137585869_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 959861c0-329a-11e6-a5cf-205325c9da85 11_45061803_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 45061803 AT A 420 PASS - Del - 1 9 MSH6 child 11_45061803_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 95a4f87a-326f-11e6-acf0-009e38e8a824 13_80223801_TAGT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 13 80223801 TAG T 480 PASS - Del - 2 2 NEIL1 child 13_80223801_TAGT_NEIL1 2 2 2 AG 1 AG Repeat-mediated 95aae470-328c-11e6-b43c-7ec36f39e758 16_63968605_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 63968605 TA T 600 PASS RP11-21L1.1 Del upstream 1 4 MSH6 child 16_63968605_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 95c30860-3292-11e6-9230-fb250e01a414 3_105387365_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 105387365 T TA 360 PASS CBLB Ins intronic 1 7 MSH6 child 3_105387365_TTA_MSH6 1 1 - - - - Ins 95c3c6e4-328b-11e6-927f-cebe38e8a824 7_103875299_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 7 103875299 GT G 600 PASS - Del - 1 9 NUDT1 parent 7_103875299_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated 95c748ba-3294-11e6-b77d-2eef6f39e758 6_103402421_CCTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 103402421 C CTG 840 PASS - Ins - 2 7 MSH6 child 6_103402421_CCTG_MSH6 2 2 - - - - Ins 95d0a762-329d-11e6-b696-dd6225c9da85 5_32399214_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 32399214 TA T 420 PASS ZFR Del intronic 1 8 MSH6 child 5_32399214_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 95d8ec8a-327d-11e6-8d42-cc2c0625f869 10_108177105_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 10 108177105 GA G 420 PASS - Del - 1 8 POLB parent 10_108177105_GAG_POLB 1 1 1 A 7 A Repeat-mediated 95dbcfca-3284-11e6-a1ac-fd6da2c71c31 13_36774374_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 36774374 CT C 540 PASS SOHLH2 Del intronic 1 7 MSH6 child 13_36774374_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 95dc9288-328a-11e6-b0c4-e9b2cc638e3d 18_35062268_GGAA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 18 35062268 G GAA 420 PASS CELF4 Ins intronic 2 3 NUDT1 child 18_35062268_GGAA_NUDT1 2 2 - - - - Ins 95de796c-329a-11e6-8069-175325c9da85 12_45488453_GAAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 45488453 GAA G 660 PASS - Del - 2 9 MSH6 child 12_45488453_GAAG_MSH6 2 2 2 AA 7 A Repeat-mediated 95e09b76-329e-11e6-b696-dd6225c9da85 5_95777332_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 95777332 GA G 480 PASS - Del - 1 7 MSH6 child 5_95777332_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 95ef0e6e-329d-11e6-91d0-016425c9da85 7_6968544_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 6968544 GA G 540 PASS - Del - 1 8 MSH6 child 7_6968544_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 95ef436a-3325-11e6-bd6e-9bc7cde16804 6_74566102_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 6 74566102 AT A 420 PASS - Del - 1 8 CHK2 child 6_74566102_ATA_CHK2 1 1 1 T 7 T Repeat-mediated 95f527d0-326c-11e6-9793-9a8fb0dab373 13_22025974_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 22025974 CA C 300 PASS ZDHHC20 Del intronic 1 9 MSH6 child 13_22025974_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 95f919fa-329c-11e6-b549-1e5325c9da85 10_24286923_TTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 24286923 T TC 360 PASS KIAA1217 Ins intronic 1 5 MSH6 child 10_24286923_TTC_MSH6 1 1 - - - - Ins 95f97640-329f-11e6-a04f-c66a25c9da85 6_22105808_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 22105808 CT C 600 PASS CASC15 Del intronic 1 8 MSH6 child 6_22105808_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9619912e-328f-11e6-baa7-a96919a91649 2_121951287_CTTTCTTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 2 121951287 CTTTCTT C 360 PASS - Del - 6 1 NEIL1 child 2_121951287_CTTTCTTC_NEIL1 6 6 3 TTT 0 - Microhomology-mediated 96201182-328c-11e6-b9c4-751d0e01a414 5_23036433_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 23036433 TA T 300 PASS - Del - 1 8 MSH6 child 5_23036433_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9622f3ac-328c-11e6-8e48-791e0e01a414 8_8407425_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 8407425 TA T 420 PASS - Del - 1 1 MSH6 child 8_8407425_TAT_MSH6 1 1 0 - 0 A None 9627f88c-3289-11e6-821d-8c090e01a414 13_37233774_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 37233774 TA T 300 PASS - Del - 1 9 MSH6 child 13_37233774_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9631e8ac-328d-11e6-ae53-96c36f39e758 15_87666428_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 87666428 CA C 540 PASS - Del - 1 9 MSH6 child 15_87666428_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 96328c38-3276-11e6-bf4d-b5224ec77248 8_34289456_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 8 34289456 AT A 480 PASS - Del - 1 8 EXO1 child 8_34289456_ATA_EXO1 1 1 1 T 7 T Repeat-mediated 9650f67a-3288-11e6-a284-4b89a2c71c31 4_185795894_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 185795894 TA T 660 PASS - Del - 1 8 MSH6 child 4_185795894_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9655b278-326f-11e6-b89d-b2d6b0dab373 4_7942345_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 7942345 AT A 360 PASS AFAP1 Del upstream 1 9 MSH6 child 4_7942345_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 965ae9fc-326d-11e6-9f48-94df41c4520d 12_77855365_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 77855365 CA C 348 PASS RP1-34H18.1 Del intronic 1 8 MSH6 child 12_77855365_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 96604dee-328a-11e6-9c68-85ccfaf1a024 17_17230202_CTTTGATCTGGTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 17 17230202 CTTTGATCTGGT C 960 PASS NT5M Del intronic 11 1 POLM child 17_17230202_CTTTGATCTGGTC_POLM 11 >=10 1 T 0 - Microhomology-mediated 9661b5fe-3293-11e6-9524-ab4c0d016689 5_16325225_GTCATGTTTTCCTATCCATGTTTGTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 5 16325225 GTCATGTTTTCCTATCCATGTTTGT G 540 PASS - Del - 24 1 NUDT1 child 5_16325225_GTCATGTTTTCCTATCCATGTTTGTG_NUDT1 24 >=10 0 - 0 - None 9663be00-3322-11e6-89bb-56bf70cce0de 13_55096524_TTA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 13 55096524 T TA 420 PASS - Ins - 1 6 POLE child 13_55096524_TTA_POLE 1 1 - - - - Ins 966d8b2c-3257-11e6-a7ac-209a7872c165 22_28905738_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 28905738 GT G 540 PASS TTC28 Del intronic 1 9 MSH6 child 22_28905738_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 968aaff6-3273-11e6-b8ae-92c57872c165 14_95523418_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 95523418 CA C 420 PASS - Del - 1 9 MSH6 child 14_95523418_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9692d958-328f-11e6-92cf-bf2a0e01a414 6_45740249_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 45740249 GA G 480 PASS - Del - 1 9 MSH6 child 6_45740249_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9696c324-328f-11e6-bb1e-70e16f39e758 X_99662504_CGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 99662504 CG C 720 PASS PCDH19 Del frameshift 1 7 MSH6 child X_99662504_CGC_MSH6 1 1 1 G 6 G Repeat-mediated 96a33a6e-3280-11e6-9e64-e3262eaed38e 16_21335956_TTGAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 16 21335956 TTGA T 780 PASS - Del - 3 3 POLB child 16_21335956_TTGAT_POLB 3 3 3 TGA 2 TGA Repeat-mediated 96a46d30-3325-11e6-b5f3-2a299a696edf 5_153673602_CAC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 5 153673602 CA C 420 PASS GALNT10 Del intronic 1 8 CHK2 child 5_153673602_CAC_CHK2 1 1 1 A 7 A Repeat-mediated 96a98e8a-3296-11e6-804d-4bf497ba1142 8_92892358_AGA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 8 92892358 AG A 300 PASS RP11-122C21.1 Del intronic 1 1 POLB child 8_92892358_AGA_POLB 1 1 0 - 0 G None 96ba4690-3286-11e6-abe7-b84190e2c2e6 9_68499849_ACAGA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 9 68499849 ACAG A 480 PASS - Del - 3 2 POLE child 9_68499849_ACAGA_POLE 3 3 3 CAG 1 CAG Repeat-mediated 96c172ee-3295-11e6-a18f-4ded97ba1142 9_88102445_AAGCACTGTG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 9 88102445 A AGCACTGTG 300 PASS - Ins - 8 1 POLB child 9_88102445_AAGCACTGTG_POLB 8 8 - - - - Ins 96cdcc24-328b-11e6-aff5-85090e01a414 16_28884686_TTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 28884686 T TG 1080 PASS SH2B1 Ins intronic 1 5 MSH6 child 16_28884686_TTG_MSH6 1 1 - - - - Ins 96d28fc0-329a-11e6-b549-1e5325c9da85 10_44686010_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 44686010 TA T 593 PASS - Del - 1 9 MSH6 child 10_44686010_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 96db06f4-325a-11e6-91d3-a68412ae24cf 7_142952140_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 142952140 G GA 420 PASS - Ins - 1 8 MSH6 child 7_142952140_GGA_MSH6 1 1 - - - - Ins 96dcc714-32a0-11e6-bc66-17b4cc638e3d 8_120304585_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 120304585 TA T 672 PASS - Del - 1 8 MSH6 child 8_120304585_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 96f9fbfc-327f-11e6-ba36-88d64dc77248 7_85682330_CTTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 7 85682330 CTT C 720 PASS - Del - 2 3 NUDT1 child 7_85682330_CTTC_NUDT1 2 2 1 T 0 - Microhomology-mediated 96ff3cf6-328a-11e6-bbaf-7c090e01a414 19_47694576_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 47694576 CA C 300 PASS SAE1 Del intronic 1 9 MSH6 child 19_47694576_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 97005050-328a-11e6-afaf-7f6251c54cdd 6_144974353_TCT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 6 144974353 TC T 660 PASS UTRN Del intronic 1 7 EXO1 child 6_144974353_TCT_EXO1 1 1 1 C 6 C Repeat-mediated 97038d24-3258-11e6-8cd9-139b7872c165 3_76922426_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 76922426 GA G 480 PASS ROBO2 Del intronic 1 5 MSH6 child 3_76922426_GAG_MSH6 1 1 1 A 4 A Repeat-mediated 9703c30a-328c-11e6-88c1-95c36f39e758 14_81534429_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 81534429 GA G 360 PASS TSHR Del intronic 1 9 MSH6 child 14_81534429_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 971377de-3276-11e6-8629-39703cfdbd24 4_18662912_TGGCGTGAACCCAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 4 18662912 TGGCGTGAACCCA T 540 PASS - Del - 12 1 CHK2 child 4_18662912_TGGCGTGAACCCAT_CHK2 12 >=10 2 GG 0 - Microhomology-mediated 97164dbe-328b-11e6-b805-77090e01a414 2_157016214_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 157016214 CT C 300 PASS - Del - 1 6 MSH6 child 2_157016214_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 9716eaee-328b-11e6-919e-92c36f39e758 2_7669345_TGAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 7669345 TGA T 480 PASS - Del - 2 6 MSH6 child 2_7669345_TGAT_MSH6 2 2 2 GA 5 GA Repeat-mediated 971923ee-3282-11e6-ba13-7508694da5d2 8_62021772_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 8 62021772 CT C 300 PASS CLVS1 Del intronic 1 9 NEIL1 child 8_62021772_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated 9733497e-3276-11e6-9bb2-e658c225ee11 20_42296595_GGAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 20 42296595 GGA G 530 PASS MYBL2 Del intronic 2 5 EXO1 parent 20_42296595_GGAG_EXO1 2 2 2 GA 4 GA Repeat-mediated 97366bc0-3282-11e6-b735-71393dc9300a 10_93020746_TAAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 10 93020746 TAA T 346 PASS PCGF5 Del intronic 2 6 NEIL1 parent 10_93020746_TAAT_NEIL1 2 2 2 AA 4 A Repeat-mediated 9736bad8-3275-11e6-83cd-a472a178171f 4_37613211_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 37613211 AC A 720 PASS RELL1 Del downstream 1 6 MSH6 child 4_37613211_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 9740321c-3288-11e6-bf15-aeb06f39e758 6_7078118_CGC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 7078118 CG C 540 PASS - Del - 1 5 EXO1 child 6_7078118_CGC_EXO1 1 1 1 G 4 G Repeat-mediated 9744d45e-329a-11e6-b74d-b59fcc638e3d 18_49571489_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 49571489 CT C 660 PASS - Del - 1 8 MSH6 child 18_49571489_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9745327e-328f-11e6-9777-62d8191589db 5_76104851_CCA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 76104851 C CA 300 PASS - Ins - 1 9 FANCC child 5_76104851_CCA_FANCC 1 1 - - - - Ins 9763ce88-329d-11e6-a5cf-e5abcc638e3d 9_106753369_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 106753369 GA G 660 PASS - Del - 1 7 MSH6 child 9_106753369_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 976597d0-328a-11e6-a729-f0a020e7b7a8 9_137995898_GGGTGAGTGCAGGAAGCTG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 9 137995898 GGGTGAGTGCAGGAAGCT G 420 PASS OLFM1 Del intronic 17 1 POLE child 9_137995898_GGGTGAGTGCAGGAAGCTG_POLE 17 >=10 0 - 0 - None 97689a88-3349-11e6-b3a1-d0f2137bb207 5_104254958_AATTTAATTTTTTTCACAGTTGAAACCATTGCTATTTTTTCTA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 5 104254958 AATTTAATTTTTTTCACAGTTGAAACCATTGCTATTTTTTCT A 420 PASS CTD-2374C24.1 Del intronic 41 1 FANCC child 5_104254958_AATTTAATTTTTTTCACAGTTGAAACCATTGCTATTTTTTCTA_FANCC 41 >=10 2 AT 0 - Microhomology-mediated 976bfb14-3273-11e6-b332-88ba7d6a9fc7 15_67672198_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 67672198 CT C 420 PASS IQCH Del intronic 1 9 MSH6 child 15_67672198_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 976dd87a-3292-11e6-9483-bc0c9c6d3b88 5_101572770_TTA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 5 101572770 T TA 300 PASS SLCO4C1 Ins intronic 1 4 POLB child 5_101572770_TTA_POLB 1 1 - - - - Ins 976dfd66-328b-11e6-bd84-429305ad5bc4 1_12212910_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 12212910 CT C 900 PASS - Del - 1 8 MSH6 child 1_12212910_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 977182da-3289-11e6-a100-84090e01a414 18_23446803_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 23446803 GA G 780 PASS - Del - 1 7 MSH6 child 18_23446803_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 97751b9c-3271-11e6-abaf-4642cab49462 6_7780846_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 7780846 AT A 600 PASS BMP6 Del intronic 1 8 MSH6 child 6_7780846_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 977c0e2e-328b-11e6-b4fe-93c36f39e758 12_5406144_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 5406144 GA G 300 PASS RP11-1038A11.3 Del intronic 1 9 MSH6 child 12_5406144_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 977dc314-3285-11e6-99f7-076ea2c71c31 12_103031692_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 103031692 TC T 360 PASS - Del - 1 1 MSH6 child 12_103031692_TCT_MSH6 1 1 0 - 0 C None 979e1ee4-3293-11e6-b81f-4ee66f39e758 8_136178919_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 136178919 C CA 300 PASS - Ins - 1 6 MSH6 child 8_136178919_CCA_MSH6 1 1 - - - - Ins 97a02368-3272-11e6-b8ae-92c57872c165 14_32497113_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 32497113 AT A 420 PASS - Del - 1 9 MSH6 child 14_32497113_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 97a75e02-3282-11e6-8500-13197e6a9fc7 1_189159894_GTG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 1 189159894 GT G 420 PASS - Del - 1 5 POLB child 1_189159894_GTG_POLB 1 1 1 T 4 T Repeat-mediated 97addff8-3272-11e6-b8ae-92c57872c165 14_32501075_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 32501075 AT A 720 PASS - Del - 1 5 MSH6 child 14_32501075_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 97ae3196-3273-11e6-b8ae-92c57872c165 14_95869213_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 95869213 TA T 420 PASS LINC00341 Del downstream 1 7 MSH6 child 14_95869213_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 97b7ed4e-3273-11e6-8f33-a6d9cde16804 11_109109980_ACTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 109109980 ACT A 720 PASS - Del - 2 6 MSH6 child 11_109109980_ACTA_MSH6 2 2 2 CT 5 CT Repeat-mediated 97ba85ac-327f-11e6-94df-1cfc028949d4 14_25647145_CTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 14 25647145 CT C 360 PASS - Del - 1 9 POLM child 14_25647145_CTC_POLM 1 1 1 T 8 T Repeat-mediated 97bb44ea-3272-11e6-9e18-3a69671699ea 10_15746352_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 15746352 AT A 720 PASS ITGA8 Del intronic 1 7 MSH6 child 10_15746352_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 97bfaa2a-3273-11e6-abaf-4642cab49462 6_139828700_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 139828700 CA C 300 PASS - Del - 1 7 MSH6 child 6_139828700_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 97c291d4-3293-11e6-b88b-bca9fa52e078 17_78926998_TTATCTAGTTCC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 17 78926998 T TATCTAGTTCC 480 PASS RPTOR Ins intronic 10 0 NUDT1 child 17_78926998_TTATCTAGTTCC_NUDT1 10 >=10 - - - - Ins 97cb684c-328c-11e6-8256-94c36f39e758 17_52429300_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 52429300 AT A 600 PASS - Del - 1 5 MSH6 child 17_52429300_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 97cd36fa-328b-11e6-ac7a-a3c36f39e758 18_4015811_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 4015811 CA C 600 PASS DLGAP1 Del intronic 1 5 MSH6 child 18_4015811_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 97e102c8-328d-11e6-bc33-715238e8a824 2_2094578_CTTGC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 2 2094578 CTTG C 300 PASS MYT1L Del intronic 3 3 FANCC child 2_2094578_CTTGC_FANCC 3 3 3 TTG 2 TTG Repeat-mediated 97e5bebe-3272-11e6-81c8-19f506e9a829 2_124197819_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 124197819 AT A 540 PASS AC073409.1 Del downstream 1 8 FANCC child 2_124197819_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 97e8c2e4-326d-11e6-acc7-e55219a91649 1_97526938_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 97526938 AT A 420 PASS - Del - 1 9 MSH6 child 1_97526938_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 97efd2f4-327d-11e6-94ee-5ee4b41afd22 9_12131813_CTC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 9 12131813 CT C 480 PASS RP11-74C3.1 Del intronic 1 6 POLM child 9_12131813_CTC_POLM 1 1 1 T 5 T Repeat-mediated 97f6940e-32a0-11e6-aea7-956725c9da85 3_143683088_TTAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 143683088 TTA T 420 PASS - Del - 2 1 MSH6 child 3_143683088_TTAT_MSH6 2 2 1 T 0 - Microhomology-mediated 97fc4006-326f-11e6-a539-0e5542c4520d 7_41649297_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 41649297 CT C 300 PASS - Del - 1 9 MSH6 child 7_41649297_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 98015b12-3284-11e6-aa7b-37792aaffa45 5_145696354_TAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 5 145696354 TA T 540 PASS - Del - 1 7 POLE child 5_145696354_TAT_POLE 1 1 1 A 6 A Repeat-mediated 98033bf0-328c-11e6-8952-77c36f39e758 10_68147008_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 68147008 GA G 419 PASS CTNNA3 Del intronic 1 9 MSH6 child 10_68147008_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9803cdd4-328e-11e6-bfac-a2a9cdacbbbf 11_122559159_TGT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 11 122559159 TG T 480 PASS UBASH3B Del intronic 1 1 POLB child 11_122559159_TGT_POLB 1 1 0 - 0 G None 980b8d32-3255-11e6-89d3-d29498816cf3 2_221296192_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 221296192 AT A 480 PASS AC114765.1 Del intronic 1 9 MSH6 child 2_221296192_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 98177d62-3274-11e6-a5d0-4fd14a47a305 2_193747488_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 193747488 CA C 720 PASS - Del - 1 9 MSH6 child 2_193747488_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 98178c52-3324-11e6-aa06-7ca120e7b7a8 7_68727670_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 7 68727670 CA C 300 PASS RP11-3P22.2 Del intronic 1 5 CHK2 child 7_68727670_CAC_CHK2 1 1 1 A 4 A Repeat-mediated 981cc9bc-3273-11e6-aad4-1aca35cec73b X_12917218_GGCGATTCCAACATGCAGGCAAAGTTGAGAACCACTGCTTCAGAGTCATTGCTTGATTGCAACAGATTCTCAAG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA X 12917218 GGCGATTCCAACATGCAGGCAAAGTTGAGAACCACTGCTTCAGAGTCATTGCTTGATTGCAACAGATTCTCAA G 720 PASS - Del - 72 1 CHK2 child X_12917218_GGCGATTCCAACATGCAGGCAAAGTTGAGAACCACTGCTTCAGAGTCATTGCTTGATTGCAACAGATTCTCAAG_CHK2 72 >=10 2 GC 0 - Microhomology-mediated 98215328-328d-11e6-a2cb-f3ac12ae24cf 5_160715534_TAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 5 160715534 TA T 300 PASS GABRB2 Del 3prime_UTR_variant 1 3 CHK2 child 5_160715534_TAT_CHK2 1 1 1 A 2 A Repeat-mediated 982d2966-326d-11e6-b9f4-5d1d694da5d2 14_85929660_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 85929660 GA G 480 PASS CTD-2128A3.2 Del intronic 1 8 MSH6 child 14_85929660_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9831c258-3283-11e6-9881-48b254de4fc4 5_132665080_AAGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 5 132665080 AAG A 300 PASS FSTL4 Del intronic 2 6 FANCC child 5_132665080_AAGA_FANCC 2 2 2 AG 5 AG Repeat-mediated 98322cea-329a-11e6-b129-195325c9da85 16_34743496_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 34743496 TA T 480 PASS RP11-80F22.15 Del upstream 1 4 MSH6 child 16_34743496_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 9835c14e-3271-11e6-aebf-545f42c4520d 5_20479557_ATA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 5 20479557 AT A 360 PASS CDH18 Del intronic 1 6 POLB child 5_20479557_ATA_POLB 1 1 1 T 5 T Repeat-mediated 983727ac-326f-11e6-ae6c-8cc5620e6611 14_58527839_GCG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 14 58527839 GC G 300 PASS C14orf37 Del intronic 1 3 EXO1 parent 14_58527839_GCG_EXO1 1 1 1 C 2 C Repeat-mediated 983ba11c-3290-11e6-9401-04ed6f39e758 3_43135414_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 43135414 TA T 660 PASS POMGNT2 Del intronic 1 9 MSH6 child 3_43135414_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 983e6726-329a-11e6-b549-1e5325c9da85 10_45340875_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 45340875 CA C 540 PASS - Del - 1 8 MSH6 child 10_45340875_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 98400e9a-3278-11e6-a3f9-4821ead19ece 3_43506810_AAC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 3 43506810 A AC 540 PASS ANO10 Ins intronic 1 1 NEIL1 child 3_43506810_AAC_NEIL1 1 1 - - - - Ins 98448500-328d-11e6-8fd1-f2ac12ae24cf X_104733104_CTC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA X 104733104 CT C 300 PASS IL1RAPL2 Del intronic 1 1 CHK2 child X_104733104_CTC_CHK2 1 1 0 - 0 T None 98480d92-3292-11e6-a9cd-ea307a852e0e 9_75892604_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 9 75892604 CT C 300 PASS - Del - 1 8 CHK2 child 9_75892604_CTC_CHK2 1 1 1 T 7 T Repeat-mediated 984893fc-3292-11e6-b77d-2eef6f39e758 6_146364432_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 146364432 TA T 360 PASS GRM1 Del intronic 1 8 MSH6 child 6_146364432_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 98527f7c-329a-11e6-b129-195325c9da85 16_34839597_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 34839597 GT G 600 PASS - Del - 1 8 MSH6 child 16_34839597_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 98597afe-328e-11e6-b2c7-1b63694da5d2 9_35422384_GAG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 9 35422384 GA G 780 PASS - Del - 1 7 POLM child 9_35422384_GAG_POLM 1 1 1 A 6 A Repeat-mediated 985a6a88-3278-11e6-a391-f6d67d6a9fc7 6_73543950_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 73543950 GA G 660 PASS KCNQ5 Del intronic 1 8 MSH6 child 6_73543950_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 985bd018-329a-11e6-ae71-0c5325c9da85 1_33758130_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 33758130 CT C 763 PASS ZNF362 Del intronic 1 8 MSH6 child 1_33758130_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 986488f2-3290-11e6-919e-92c36f39e758 2_86839483_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 86839483 T TA 480 PASS RNF103 Ins intronic 1 8 MSH6 child 2_86839483_TTA_MSH6 1 1 - - - - Ins 986a0f10-3287-11e6-a21c-b819bce6aa09 X_102956513_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 102956513 CA C 420 PASS - Del - 1 8 MSH6 child X_102956513_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 98731010-3273-11e6-a5d0-4fd14a47a305 2_104069275_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 104069275 TA T 660 PASS - Del - 1 8 MSH6 child 2_104069275_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 987a9f00-3279-11e6-a391-f6d67d6a9fc7 6_147357449_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 147357449 AT A 360 PASS - Del - 1 9 MSH6 child 6_147357449_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 98854ace-329a-11e6-bda6-065325c9da85 13_65040871_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 65040871 GA G 660 PASS - Del - 1 9 MSH6 child 13_65040871_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9885d5ae-328e-11e6-b4b8-6de0977b3f23 5_21083960_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 5 21083960 TA T 360 PASS - Del - 1 8 NEIL1 child 5_21083960_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 98a1df74-3257-11e6-acc5-308412ae24cf 5_82993688_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 82993688 AT A 300 PASS HAPLN1 Del intronic 1 6 MSH6 child 5_82993688_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 98a343ae-3258-11e6-acc5-308412ae24cf 5_161925266_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 161925266 GA G 420 PASS - Del - 1 9 MSH6 child 5_161925266_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 98a565de-3259-11e6-a39a-dc8512ae24cf 8_130914987_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 130914987 TA T 540 PASS FAM49B Del intronic 1 8 MSH6 child 8_130914987_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 98b0255a-3272-11e6-a5d0-4fd14a47a305 2_20080720_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 20080720 CT C 720 PASS LINC00954 Del intronic 1 5 MSH6 child 2_20080720_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 98bacc60-326f-11e6-b5b8-e0c24a47a305 X_53383688_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 53383688 GA G 480 PASS - Del - 1 9 MSH6 child X_53383688_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 98bc62e8-3272-11e6-bfa3-628a0cfb5812 X_139139394_GAAG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA X 139139394 GAA G 300 PASS - Del - 2 2 POLB child X_139139394_GAAG_POLB 2 2 0 - 0 - None 98bcd494-3272-11e6-8f33-a6d9cde16804 11_21356874_CCTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 21356874 CCT C 360 PASS NELL1 Del intronic 2 7 MSH6 child 11_21356874_CCTC_MSH6 2 2 2 CT 6 CT Repeat-mediated 98c0df58-326d-11e6-b306-b5204b47a305 2_85637955_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 85637955 AT A 360 PASS CAPG Del upstream 1 8 MSH6 child 2_85637955_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 98c17972-3277-11e6-92d2-c259c225ee11 3_93868050_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 93868050 AT A 360 PASS - Del - 1 9 MSH6 child 3_93868050_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 98c80d40-326e-11e6-9d68-ac9acab49462 15_85391135_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 85391135 CA C 420 PASS ALPK3 Del intronic 1 8 MSH6 child 15_85391135_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 98cb48f6-328d-11e6-b9c4-751d0e01a414 5_86584520_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 86584520 CT C 600 PASS RASA1 Del intronic 1 8 MSH6 child 5_86584520_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 98ccb5a2-3322-11e6-8c1c-2deb137bb207 15_83691740_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 15 83691740 TA T 360 PASS BTBD1 Del intronic 1 9 EXO1 child 15_83691740_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 98cdbd70-326f-11e6-8ed8-0863a78019ab 5_56408233_TCT . HAP1_POLM_21 HAP1_parental_75_WT_DNA 5 56408233 TC T 600 PASS - Del - 1 5 POLM parent 5_56408233_TCT_POLM 1 1 1 C 4 C Repeat-mediated 98d6dbee-3251-11e6-b895-bae612ae24cf 2_3386988_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 2 3386988 CT C 352 PASS TRAPPC12 Del intronic 1 7 POLB child 2_3386988_CTC_POLB 1 1 1 T 6 T Repeat-mediated 98da7bd0-329e-11e6-b696-dd6225c9da85 5_96388588_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 96388588 AT A 900 PASS - Del - 1 8 MSH6 child 5_96388588_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 98ddc306-3278-11e6-92d2-c259c225ee11 3_167421065_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 167421065 TA T 360 PASS PDCD10 Del intronic 1 9 MSH6 child 3_167421065_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 98f26df6-3287-11e6-b32c-fd87a2c71c31 5_150453778_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 150453778 AT A 300 PASS TNIP1 Del intronic 1 8 MSH6 child 5_150453778_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 98fe7684-3285-11e6-bec9-6bfa4430f757 10_118064664_GTG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 10 118064664 GT G 420 PASS - Del - 1 9 EXO1 child 10_118064664_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 99027df0-3281-11e6-a5e9-0107694da5d2 7_97353625_TAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 97353625 TA T 420 PASS - Del - 1 9 NEIL1 child 7_97353625_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 99051e46-3274-11e6-a5d0-4fd14a47a305 2_194251197_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 194251197 AT A 300 PASS - Del - 1 2 MSH6 child 2_194251197_ATA_MSH6 1 1 1 T 1 T Repeat-mediated 990c7224-328b-11e6-bd1b-5fcc977b3f23 11_15870382_TGT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 11 15870382 TG T 720 PASS - Del - 1 1 NEIL1 child 11_15870382_TGT_NEIL1 1 1 0 - 0 G None 991a1edc-328c-11e6-aa75-90c36f39e758 13_88786823_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 88786823 CA C 420 PASS - Del - 1 9 MSH6 child 13_88786823_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 991b755c-328c-11e6-9c1f-afbe38e8a824 8_104762234_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 8 104762234 AT A 540 PASS RIMS2 Del intronic 1 9 NUDT1 parent 8_104762234_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated 991be3f8-3272-11e6-8f33-a6d9cde16804 11_21412467_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 21412467 GT G 600 PASS NELL1 Del intronic 1 8 MSH6 child 11_21412467_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 991cb49c-3347-11e6-aa8a-bd633cfdbd24 15_88343113_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 15 88343113 TA T 300 PASS - Del - 1 6 FANCC child 15_88343113_TAT_FANCC 1 1 1 A 5 A Repeat-mediated 99210fee-3282-11e6-9ece-78393dc9300a 11_86444921_TAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 11 86444921 TA T 660 PASS CTD-2005H7.2 Del intronic 1 9 NEIL1 parent 11_86444921_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated 99240806-3279-11e6-a391-f6d67d6a9fc7 6_147726989_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 147726989 TA T 420 PASS - Del - 1 7 MSH6 child 6_147726989_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 99249250-3295-11e6-9985-7c540d016689 6_92935673_GGTGAGAATTTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 92935673 GGTGAGAATTT G 300 PASS - Del - 10 1 NUDT1 child 6_92935673_GGTGAGAATTTG_NUDT1 10 >=10 2 GT 0 - Microhomology-mediated 99256a72-3281-11e6-8cf9-a42236fc2f7d 17_56668375_GAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 17 56668375 GA G 420 PASS TEX14 Del intronic 1 5 NUDT1 child 17_56668375_GAG_NUDT1 1 1 1 A 4 A Repeat-mediated 9936401e-328f-11e6-baa7-a96919a91649 2_123154833_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 2 123154833 CT C 360 PASS - Del - 1 9 NEIL1 child 2_123154833_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated 99365860-328f-11e6-9230-fb250e01a414 3_113199567_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 113199567 TA T 300 PASS SPICE1 Del intronic 1 9 MSH6 child 3_113199567_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 993a1184-3272-11e6-bfb2-2749c225ee11 12_16623122_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 16623122 TA T 300 PASS - Del - 1 9 MSH6 child 12_16623122_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 994592be-326f-11e6-a20d-eeb97872c165 17_45640937_AGTA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 17 45640937 AGT A 427 PASS NPEPPS Del intronic 2 2 NEIL1 child 17_45640937_AGTA_NEIL1 2 2 2 GT 1 GT Repeat-mediated 994b1cb2-3322-11e6-b73c-6a3781635058 1_156263495_CCCTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 1 156263495 CCCT C 300 PASS TMEM79 Del downstream 3 2 CHK2 child 1_156263495_CCCTC_CHK2 3 3 3 CCT 1 CCT Repeat-mediated 99540d3e-327f-11e6-b066-e9d4d4957ca3 1_166219544_GTATTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 1 166219544 GTATT G 610 PASS - Del - 4 1 NEIL1 child 1_166219544_GTATTG_NEIL1 4 4 1 T 0 - Microhomology-mediated 995cfdc4-3255-11e6-89d3-d29498816cf3 2_221833114_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 221833114 CT C 600 PASS - Del - 1 9 MSH6 child 2_221833114_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 996acdc6-3275-11e6-8ac8-25fbd7fd0a58 X_98314430_TGTGT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA X 98314430 TGTG T 300 PASS - Del - 3 1 NEIL1 child X_98314430_TGTGT_NEIL1 3 3 2 GT 0 - Microhomology-mediated 997a00ec-3325-11e6-95a6-476ac042253c 3_55281336_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 55281336 CT C 540 PASS - Del - 1 9 CHK2 child 3_55281336_CTC_CHK2 1 1 1 T 8 T Repeat-mediated 9982a5e2-3273-11e6-869c-1303630e6611 19_9478440_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 19 9478440 AT A 480 PASS ZNF559-ZNF177 Del intronic 1 7 CHK2 child 19_9478440_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 9986cdba-3288-11e6-ad64-7189a178171f 5_9453697_TAATGAACCAATTGCATATTAAATAAGTTGTTTTTAACAAAAAATGCACTTGAAACAAGGTTATTTATTGATCAGTTGACAAAAATATGGTGACCAGAGGCTCGCAGGAACCAAACCCTATATTTCCCCTAGGAGCAGTGGTTCAGGATTTGCTAATTCAGTATTTGCAGTGACTTCATAGAGCATAATTACCACATGCTCTCAATGATAAGAAGAAAAGACGTAAAATATCAAAGGACATGAGCAACAGATATAACACCCTAACAGTCTTCCCCAGCCTGACACAGGATCATCACAGGCCAACCTGAAGGACTGTGTAAGTAGAGTTTTTTCAGTTCACTCAGAAGAGTAATCAGCTCCACAGAGGGAGATCCT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 9453697 TAATGAACCAATTGCATATTAAATAAGTTGTTTTTAACAAAAAATGCACTTGAAACAAGGTTATTTATTGATCAGTTGACAAAAATATGGTGACCAGAGGCTCGCAGGAACCAAACCCTATATTTCCCCTAGGAGCAGTGGTTCAGGATTTGCTAATTCAGTATTTGCAGTGACTTCATAGAGCATAATTACCACATGCTCTCAATGATAAGAAGAAAAGACGTAAAATATCAAAGGACATGAGCAACAGATATAACACCCTAACAGTCTTCCCCAGCCTGACACAGGATCATCACAGGCCAACCTGAAGGACTGTGTAAGTAGAGTTTTTTCAGTTCACTCAGAAGAGTAATCAGCTCCACAGAGGGAGATCC T 600 PASS SEMA5A Del intronic 373 1 FANCC child 5_9453697_TAATGAACCAATTGCATATTAAATAAGTTGTTTTTAACAAAAAATGCACTTGAAACAAGGTTATTTATTGATCAGTTGACAAAAATATGGTGACCAGAGGCTCGCAGGAACCAAACCCTATATTTCCCCTAGGAGCAGTGGTTCAGGATTTGCTAATTCAGTATTTGCAGTGACTTCATAGAGCATAATTACCACATGCTCTCAATGATAAGAAGAAAAGACGTAAAATATCAAAGGACATGAGCAACAGATATAACACCCTAACAGTCTTCCCCAGCCTGACACAGGATCATCACAGGCCAACCTGAAGGACTGTGTAAGTAGAGTTTTTTCAGTTCACTCAGAAGAGTAATCAGCTCCACAGAGGGAGATCCT_FANCC 373 >=10 4 AATG 0 - Microhomology-mediated 999a59f0-3253-11e6-bf41-357a7872c165 10_6297441_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 6297441 GT G 540 PASS - Del - 1 6 MSH6 child 10_6297441_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 999a6dce-3275-11e6-a71d-236235cec73b X_23249877_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 23249877 AT A 300 PASS RP11-40F8.2 Del intronic 1 6 MSH6 child X_23249877_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 999aaf2a-326e-11e6-b306-b5204b47a305 2_176649592_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 176649592 TA T 308 PASS - Del - 1 6 MSH6 child 2_176649592_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 99a05704-3273-11e6-8e5c-87d3d7fd0a58 1_61305999_GGA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 1 61305999 G GA 420 PASS - Ins - 1 8 POLB child 1_61305999_GGA_POLB 1 1 - - - - Ins 99a5042a-326e-11e6-9d68-ac9acab49462 15_85428661_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 85428661 GA G 300 PASS SLC28A1 Del intronic 1 9 MSH6 child 15_85428661_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 99a76a0c-328d-11e6-8dad-8fe0191589db 21_36062225_CCAAAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 21 36062225 CCAAA C 300 PASS CLIC6 Del intronic 4 1 FANCC child 21_36062225_CCAAAC_FANCC 4 4 2 CA 0 - Microhomology-mediated 99aa3fb6-327e-11e6-ab3d-fefad0959d89 X_40174400_CAGC . HAP1_POLB_35 HAP1_parental_75_WT_DNA X 40174400 CAG C 900 PASS - Del - 2 7 POLB parent X_40174400_CAGC_POLB 2 2 2 AG 6 AG Repeat-mediated 99aaedb4-3277-11e6-83cd-a472a178171f 4_181532311_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 181532311 AT A 480 PASS - Del - 1 9 MSH6 child 4_181532311_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 99afee04-329a-11e6-a5cf-205325c9da85 11_46141797_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 46141797 AT A 360 PASS PHF21A Del intronic 1 8 MSH6 child 11_46141797_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 99b6ae04-3274-11e6-803d-c550e7d0bdd7 11_9235355_CCAAAAAAAAAAAAA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 11 9235355 C CAAAAAAAAAAAAA 300 PASS DENND5A Ins intronic 13 9 EXO1 child 11_9235355_CCAAAAAAAAAAAAA_EXO1 13 >=10 - - - - Ins 99bce310-3287-11e6-a21c-b819bce6aa09 X_103573985_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 103573985 CT C 360 PASS - Del - 1 9 MSH6 child X_103573985_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 99be1fbc-3289-11e6-8eee-76090e01a414 10_21222969_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 21222969 TA T 420 PASS NEBL Del intronic 1 9 MSH6 child 10_21222969_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 99c3e102-3259-11e6-885f-d1947872c165 4_43522479_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 43522479 A AT 600 PASS - Ins - 1 5 MSH6 child 4_43522479_AAT_MSH6 1 1 - - - - Ins 99c47fa4-3272-11e6-b89d-b2d6b0dab373 4_4342562_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 4342562 C CA 420 PASS - Ins - 1 7 MSH6 child 4_4342562_CCA_MSH6 1 1 - - - - Ins 99ca6ee4-3251-11e6-b676-5605ee3c4f5d 12_2376494_TAT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 12 2376494 TA T 720 PASS CACNA1C Del intronic 1 5 POLB child 12_2376494_TAT_POLB 1 1 1 A 4 A Repeat-mediated 99cabef0-3277-11e6-9e0f-7959cab49462 7_140531506_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 140531506 AT A 840 PASS BRAF Del intronic 1 8 MSH6 child 7_140531506_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 99d04b26-328c-11e6-8770-3e160e01a414 9_77791692_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 77791692 AT A 480 PASS - Del - 1 9 MSH6 child 9_77791692_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 99d24226-3275-11e6-8cf1-8b341daa6045 16_56291087_TGT . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 16 56291087 TG T 660 PASS GNAO1 Del intronic 1 9 POLM child 16_56291087_TGT_POLM 1 1 1 G 8 G Repeat-mediated 99ddd968-3290-11e6-b77d-2eef6f39e758 6_11573393_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 11573393 CT C 420 PASS TMEM170B Del intronic 1 7 MSH6 child 6_11573393_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 99e23a20-3273-11e6-b8ae-92c57872c165 14_96441090_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 96441090 TA T 540 PASS - Del - 1 5 MSH6 child 14_96441090_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 99e361f0-3289-11e6-8feb-e6ab6f39e758 3_162634384_GTTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 3 162634384 GTT G 420 PASS - Del - 2 2 EXO1 child 3_162634384_GTTG_EXO1 2 2 0 - 0 - None 99e39a6e-3273-11e6-88b6-40832aaffa45 1_19855438_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 19855438 TA T 540 PASS - Del - 1 7 EXO1 child 1_19855438_TAT_EXO1 1 1 1 A 6 A Repeat-mediated 99e90f16-3279-11e6-a391-f6d67d6a9fc7 6_147948333_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 147948333 CT C 480 PASS - Del - 1 8 MSH6 child 6_147948333_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 99ea381a-3291-11e6-9432-c0e56f39e758 5_22458463_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 22458463 T TA 600 PASS CDH12 Ins intronic 1 6 MSH6 child 5_22458463_TTA_MSH6 1 1 - - - - Ins 99eb02c6-329c-11e6-aca6-b39fcc638e3d 2_183863584_AAGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 183863584 AAG A 420 PASS NCKAP1 Del intronic 2 1 MSH6 child 2_183863584_AAGA_MSH6 2 2 0 - 0 - None 9a05364c-3273-11e6-b332-88ba7d6a9fc7 15_67853250_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 67853250 CT C 720 PASS MAP2K5 Del intronic 1 7 MSH6 child 15_67853250_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9a089020-3274-11e6-b7db-2a26987b3f23 21_23137380_TCAT . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 21 23137380 TCA T 360 PASS AP000475.2 Del intronic 2 6 POLB child 21_23137380_TCAT_POLB 2 2 2 CA 5 CA Repeat-mediated 9a0efdf0-3285-11e6-a0a8-096ea2c71c31 11_115034019_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 115034019 TA T 600 PASS - Del - 1 6 MSH6 child 11_115034019_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 9a0f1134-326f-11e6-9fba-41ebd8b4fa2c 11_115446816_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 115446816 CA C 300 PASS - Del - 1 7 MSH6 child 11_115446816_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9a1160bc-3272-11e6-bbeb-70bd19a91649 20_49388967_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 49388967 AT A 297 PASS - Del - 1 9 MSH6 child 20_49388967_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9a123548-3270-11e6-b5b8-e0c24a47a305 X_70665305_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 70665305 CT C 360 PASS TAF1 Del intronic 1 7 MSH6 child X_70665305_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9a18c754-326c-11e6-9003-ae204b47a305 19_491274_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 491274 CA C 300 PASS - Del - 1 9 MSH6 child 19_491274_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9a1b2584-329a-11e6-8069-175325c9da85 12_46464258_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 46464258 TC T 840 PASS - Del - 1 4 MSH6 child 12_46464258_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 9a1d3cac-327c-11e6-8c6a-eb8590e2c2e6 10_31181170_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 10 31181170 AT A 360 PASS ZNF438 Del intronic 1 6 NUDT1 child 10_31181170_ATA_NUDT1 1 1 1 T 5 T Repeat-mediated 9a1d748c-3273-11e6-a5d0-4fd14a47a305 2_105154303_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 105154303 TC T 420 PASS - Del - 1 7 MSH6 child 2_105154303_TCT_MSH6 1 1 1 C 6 C Repeat-mediated 9a2114b2-329a-11e6-8d0f-075325c9da85 14_62683736_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 62683736 AT A 540 PASS - Del - 1 9 MSH6 child 14_62683736_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9a24bd86-326f-11e6-a539-0e5542c4520d 7_42699933_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 42699933 TA T 300 PASS AC027269.2 Del downstream 1 7 MSH6 child 7_42699933_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9a2577cc-328c-11e6-919e-92c36f39e758 2_72451475_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 72451475 AC A 600 PASS EXOC6B Del intronic 1 5 MSH6 child 2_72451475_ACA_MSH6 1 1 1 C 4 C Repeat-mediated 9a2afeee-328d-11e6-b8c3-19a5e7d0bdd7 12_1664268_CCTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 12 1664268 CCT C 480 PASS - Del - 2 3 FANCC child 12_1664268_CCTC_FANCC 2 2 2 CT 2 CT Repeat-mediated 9a2e8f56-334a-11e6-911d-cdceb0dab373 9_22020298_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 9 22020298 AT A 360 PASS - Del - 1 8 FANCC child 9_22020298_ATA_FANCC 1 1 1 T 7 T Repeat-mediated 9a2fb350-3254-11e6-a4a7-35f212ae24cf 14_87587163_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 87587163 CT C 540 PASS - Del - 1 9 MSH6 child 14_87587163_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9a38f996-3273-11e6-b776-ad832aaffa45 13_36568694_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 13 36568694 TA T 720 PASS DCLK1 Del intronic 1 8 EXO1 child 13_36568694_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 9a3b5ea4-3276-11e6-8c15-5448694da5d2 5_173796436_GTG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 5 173796436 GT G 600 PASS RP11-267A15.1 Del intronic 1 7 NEIL1 child 5_173796436_GTG_NEIL1 1 1 1 T 6 T Repeat-mediated 9a42d042-328c-11e6-9c89-8d090e01a414 1_199478537_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 199478537 TA T 540 PASS - Del - 1 6 MSH6 child 1_199478537_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 9a43f2d0-326c-11e6-92dd-fda8977b3f23 10_14853966_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 14853966 CT C 300 PASS - Del - 1 8 MSH6 child 10_14853966_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9a44e532-3271-11e6-81c8-19f506e9a829 2_53076929_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 53076929 CA C 720 PASS AC010967.2 Del intronic 1 4 FANCC child 2_53076929_CAC_FANCC 1 1 1 A 3 A Repeat-mediated 9a4700fa-328b-11e6-8106-81c36f39e758 19_4993929_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 4993929 AT A 480 PASS KDM4B Del intronic 1 9 MSH6 child 19_4993929_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9a4e9e58-3328-11e6-868e-d16670cce0de 6_117109792_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 117109792 AT A 720 PASS GPRC6A Del downstream 1 7 EXO1 child 6_117109792_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 9a4ef74e-3289-11e6-a32d-75090e01a414 14_40710959_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 40710959 CT C 480 PASS - Del - 1 9 MSH6 child 14_40710959_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9a53a85a-3254-11e6-a4a7-35f212ae24cf 14_87628955_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 87628955 CT C 900 PASS - Del - 1 9 MSH6 child 14_87628955_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9a5451a8-3284-11e6-94be-6cfa4430f757 12_53962582_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 53962582 AT A 600 PASS ATF7 Del intronic 1 6 EXO1 child 12_53962582_ATA_EXO1 1 1 1 T 5 T Repeat-mediated 9a5543a4-328b-11e6-8256-94c36f39e758 17_4241514_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 4241514 GA G 300 PASS UBE2G1 Del intronic 1 8 MSH6 child 17_4241514_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9a5b4bc0-3270-11e6-a539-0e5542c4520d 7_117170566_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 117170566 CA C 300 PASS CFTR Del intronic 1 9 MSH6 child 7_117170566_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9a5ca0de-3288-11e6-a8ac-a28ea2c71c31 3_90138282_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 90138282 CA C 360 PASS - Del - 1 7 MSH6 child 3_90138282_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9a612048-3281-11e6-a1d1-b18df4b7c17d 1_177236922_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 177236922 AT A 360 PASS BRINP2 Del intronic 1 6 FANCC child 1_177236922_ATA_FANCC 1 1 1 T 5 T Repeat-mediated 9a6752f8-3270-11e6-9d19-c216987b3f23 21_25670497_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 25670497 CA C 420 PASS - Del - 1 8 MSH6 child 21_25670497_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9a6a78e0-3287-11e6-b32c-fd87a2c71c31 5_151029568_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 151029568 AT A 540 PASS - Del - 1 8 MSH6 child 5_151029568_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9a6c14be-329d-11e6-a5cf-e5abcc638e3d 9_107518622_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 107518622 GA G 300 PASS NIPSNAP3A Del intronic 1 9 MSH6 child 9_107518622_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9a78ae90-328e-11e6-b9c4-751d0e01a414 5_159808306_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 159808306 CA C 360 PASS - Del - 1 5 MSH6 child 5_159808306_CAC_MSH6 1 1 1 A 4 A Repeat-mediated 9a7b8538-328f-11e6-9d97-efe56f39e758 4_65166492_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 65166492 GT G 600 PASS TECRL Del intronic 1 5 MSH6 child 4_65166492_GTG_MSH6 1 1 1 T 4 T Repeat-mediated 9a7c0b7a-326c-11e6-b2ac-b6204b47a305 17_279187_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 279187 AT A 480 PASS - Del - 1 6 MSH6 child 17_279187_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9a87e746-3272-11e6-aa3b-ca60a178171f 13_32430318_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 32430318 TA T 420 PASS - Del - 1 8 MSH6 child 13_32430318_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9a88dbc4-328b-11e6-bd84-429305ad5bc4 1_14461335_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 14461335 GA G 360 PASS - Del - 1 4 MSH6 child 1_14461335_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 9a8a8dda-3285-11e6-8ebc-68f1bbe6aa09 18_52935752_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 52935752 T TA 480 PASS TCF4 Ins intronic 1 7 MSH6 child 18_52935752_TTA_MSH6 1 1 - - - - Ins 9a8dc558-328b-11e6-aa75-90c36f39e758 13_24353607_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 24353607 TG T 780 PASS MIPEP Del intronic 1 8 MSH6 child 13_24353607_TGT_MSH6 1 1 1 G 7 G Repeat-mediated 9a90f93a-3286-11e6-afd8-be14987b3f23 5_178099579_CAGC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 5 178099579 CAG C 660 PASS - Del - 2 2 NEIL1 parent 5_178099579_CAGC_NEIL1 2 2 2 AG 1 AG Repeat-mediated 9a913120-3290-11e6-9230-fb250e01a414 3_177204585_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 177204585 AT A 300 PASS LINC00578 Del intronic 1 9 MSH6 child 3_177204585_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9a959e90-3277-11e6-a71d-236235cec73b X_127888748_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 127888748 CA C 600 PASS - Del - 1 8 MSH6 child X_127888748_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9a977576-3272-11e6-9ef9-d85a25c9da85 3_3996248_GAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 3 3996248 GA G 300 PASS SUMF1 Del intronic 1 5 POLM child 3_3996248_GAG_POLM 1 1 1 A 4 A Repeat-mediated 9a979482-3256-11e6-91d3-a68412ae24cf 7_7262583_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 7262583 TA T 480 PASS C1GALT1 Del intronic 1 8 MSH6 child 7_7262583_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9a97b176-328b-11e6-8590-58cc977b3f23 14_37402464_GCG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 14 37402464 GC G 300 PASS SLC25A21 Del intronic 1 4 NEIL1 child 14_37402464_GCG_NEIL1 1 1 1 C 3 C Repeat-mediated 9a99d362-3258-11e6-aed0-182fee3c4f5d 20_51124754_GAG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 20 51124754 GA G 480 PASS RP4-723E3.1 Del intronic 1 9 POLB child 20_51124754_GAG_POLB 1 1 1 A 8 A Repeat-mediated 9a9e9774-3273-11e6-abaf-4642cab49462 6_140446216_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 140446216 AT A 480 PASS - Del - 1 8 MSH6 child 6_140446216_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9aa45c4c-328a-11e6-8459-82090e01a414 12_78720420_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 78720420 CT C 300 PASS RP11-38F22.1 Del downstream 1 5 MSH6 child 12_78720420_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 9aa9e2ac-3253-11e6-a03d-40f212ae24cf 18_4742554_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 4742554 CA C 300 PASS - Del - 1 7 MSH6 child 18_4742554_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9aae73a0-328d-11e6-b4fe-93c36f39e758 12_123666277_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 123666277 TA T 420 PASS MPHOSPH9 Del intronic 1 9 MSH6 child 12_123666277_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9aafa25c-3279-11e6-bc24-bc6e3cfdbd24 6_48034793_AATTT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 48034793 A ATTT 540 PASS PTCHD4 Ins intronic 3 6 MSH6 parent 6_48034793_AATTT_MSH6 3 3 - - - - Ins 9ab1b928-326c-11e6-b306-b5204b47a305 2_916306_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 916306 CT C 300 PASS - Del - 1 9 MSH6 child 2_916306_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9abce1e6-329d-11e6-94ca-0aaecc638e3d X_56720787_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 56720787 AT A 600 PASS - Del - 1 8 MSH6 child X_56720787_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9abd449e-334a-11e6-a997-309d38e8a824 4_166543629_GAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 166543629 GA G 360 PASS - Del - 1 9 FANCC child 4_166543629_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 9ad30624-328e-11e6-bec1-ca1d0e01a414 X_110931602_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 110931602 TA T 480 PASS ALG13 Del 3prime_UTR_variant 1 7 MSH6 child X_110931602_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9ade35ba-3254-11e6-b7c7-cd919b6d3b88 18_30129417_TTGAT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 18 30129417 TTGA T 540 PASS - Del - 3 2 POLM child 18_30129417_TTGAT_POLM 3 3 3 TGA 1 TGA Repeat-mediated 9ae2edbe-3284-11e6-8b67-086ea2c71c31 1_19430942_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 19430942 GA G 540 PASS UBR4 Del intronic 1 8 MSH6 child 1_19430942_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9aeae80e-3273-11e6-b8ae-92c57872c165 14_96712714_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 96712714 TC T 360 PASS BDKRB2 Del downstream 1 4 MSH6 child 14_96712714_TCT_MSH6 1 1 1 C 3 C Repeat-mediated 9aeccaa4-326c-11e6-9f48-94df41c4520d 12_6681730_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 6681730 CT C 308 PASS CHD4 Del intronic 1 8 MSH6 child 12_6681730_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9af0e3ee-3278-11e6-a5d7-eb6be7d0bdd7 6_167390887_TAAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 6 167390887 TAA T 360 PASS - Del - 2 3 EXO1 child 6_167390887_TAAT_EXO1 2 2 1 A 0 - Microhomology-mediated 9af8357a-3293-11e6-b4ea-e05798ba1142 18_50040521_GGTA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 18 50040521 G GTA 300 PASS DCC Ins intronic 2 5 POLB child 18_50040521_GGTA_POLB 2 2 - - - - Ins 9afefd32-3253-11e6-a03d-40f212ae24cf 18_4821122_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 4821122 GA G 300 PASS RP11-172F10.1 Del intronic 1 8 MSH6 child 18_4821122_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9b018ba8-32a1-11e6-bc66-17b4cc638e3d 8_15491096_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 15491096 A AT 360 PASS TUSC3 Ins intronic 1 6 MSH6 child 8_15491096_AAT_MSH6 1 1 - - - - Ins 9b0b05c6-3287-11e6-a21c-b819bce6aa09 X_104610450_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 104610450 CT C 540 PASS IL1RAPL2 Del intronic 1 6 MSH6 child X_104610450_CTC_MSH6 1 1 1 T 5 T Repeat-mediated 9b1c0654-328d-11e6-b9c4-751d0e01a414 5_87655791_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 87655791 AT A 360 PASS - Del - 1 9 MSH6 child 5_87655791_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9b26cb94-3291-11e6-b81f-4ee66f39e758 8_134234085_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 134234085 TA T 360 PASS WISP1 Del intronic 1 6 MSH6 child 8_134234085_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 9b2c2f8a-3273-11e6-88b6-40832aaffa45 1_20155323_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 20155323 AT A 660 PASS - Del - 1 7 EXO1 child 1_20155323_ATA_EXO1 1 1 1 T 6 T Repeat-mediated 9b2e9b8c-3276-11e6-8f3b-7b67e7d0bdd7 22_48855963_AATGTGGCACCATTCCCTGGGGTGATCAGCCAGCTACCTGGGGGCAGGTTGATTACATTGGACTGCTTCCACCCTGGACAAGGCAGCATTTTGTCCTTGCTGGAACAGGCACTCTGGGCGTGGATTTGTCTTCCCTGCACTCAATGCTGCTGCAAAAACCACCATCCCTGGGCTCACAGCTGCCTCGTCCACCATCGTGCTGTCCACACGGCATTGCCTCTCACCAAGGAGCTCACGTGACACAAATGAAGTGCGGCAATGGGCTCAGGCTCATAGAATGCCCTGGTCGCATCCTGCTTTGTGTAATCCTGAAGCAGCAGAGACCAGCGCTGGGCCCCGA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 22 48855963 AATGTGGCACCATTCCCTGGGGTGATCAGCCAGCTACCTGGGGGCAGGTTGATTACATTGGACTGCTTCCACCCTGGACAAGGCAGCATTTTGTCCTTGCTGGAACAGGCACTCTGGGCGTGGATTTGTCTTCCCTGCACTCAATGCTGCTGCAAAAACCACCATCCCTGGGCTCACAGCTGCCTCGTCCACCATCGTGCTGTCCACACGGCATTGCCTCTCACCAAGGAGCTCACGTGACACAAATGAAGTGCGGCAATGGGCTCAGGCTCATAGAATGCCCTGGTCGCATCCTGCTTTGTGTAATCCTGAAGCAGCAGAGACCAGCGCTGGGCCCCG A 300 PASS - Del - 338 1 EXO1 child 22_48855963_AATGTGGCACCATTCCCTGGGGTGATCAGCCAGCTACCTGGGGGCAGGTTGATTACATTGGACTGCTTCCACCCTGGACAAGGCAGCATTTTGTCCTTGCTGGAACAGGCACTCTGGGCGTGGATTTGTCTTCCCTGCACTCAATGCTGCTGCAAAAACCACCATCCCTGGGCTCACAGCTGCCTCGTCCACCATCGTGCTGTCCACACGGCATTGCCTCTCACCAAGGAGCTCACGTGACACAAATGAAGTGCGGCAATGGGCTCAGGCTCATAGAATGCCCTGGTCGCATCCTGCTTTGTGTAATCCTGAAGCAGCAGAGACCAGCGCTGGGCCCCGA_EXO1 338 >=10 36 ATGTGGCACCATTCCCTGGGGTGATCAGCCAGCTAC 0 - Microhomology-mediated 9b3c9872-3280-11e6-9da4-3e472a2d4995 1_8628722_GCCCCTTGAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 1 8628722 GCCCCTTGA G 660 PASS RERE Del intronic 8 1 EXO1 child 1_8628722_GCCCCTTGAG_EXO1 8 8 2 CC 0 - Microhomology-mediated 9b456fe4-328d-11e6-a278-48230e01a414 21_14483098_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 14483098 TA T 279 PASS - Del - 1 7 MSH6 child 21_14483098_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9b474c08-329f-11e6-91d0-016425c9da85 7_127819749_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 127819749 CA C 780 PASS - Del - 1 8 MSH6 child 7_127819749_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9b50b414-3254-11e6-bb62-81f712ae24cf X_23952986_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA X 23952986 CT C 300 PASS CXorf58 Del intronic 1 9 POLB child X_23952986_CTC_POLB 1 1 1 T 8 T Repeat-mediated 9b50c828-3254-11e6-aedc-3df212ae24cf 19_44391222_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 44391222 TA T 360 PASS ZNF404 Del upstream 1 9 MSH6 child 19_44391222_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9b537732-3270-11e6-b337-78fbd8b4fa2c 2_7529102_GTACAGGTATTGGGTAAAG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 7529102 GTACAGGTATTGGGTAAA G 420 PASS - Del - 17 1 POLB child 2_7529102_GTACAGGTATTGGGTAAAG_POLB 17 >=10 10 TACAGGTATT 0 - Microhomology-mediated 9b558214-3272-11e6-b332-88ba7d6a9fc7 15_28143937_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 28143937 AT A 480 PASS OCA2 Del intronic 1 6 MSH6 child 15_28143937_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9b55e83e-326e-11e6-acc7-e55219a91649 1_183517631_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 183517631 GT G 360 PASS SMG7 Del intronic 1 9 MSH6 child 1_183517631_GTG_MSH6 1 1 1 T 8 T Repeat-mediated 9b5bfde6-3278-11e6-8b89-96b6ecf1e924 5_164058879_CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGGACCCAATTTTTATACAGAATAAGAAATGTAAGACAAATACTTGCTGACTCCTTGAAAGCTGAGGAATTAATCATGTGCATTTTACTTCAACCATTCTTAGTCTGACCTCTGAAGATAGACTTAACAGTGTTTATAACCTCCTCAGAAATATTTGAAGGATTGAGTTGTGACCATATGTGTAGATTTTTGTTGGTTTGTTTTATTTTTTGAGGCAGAGACTCCCTTGGTCACCTAGACTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCCACCTCCTGGGTTCAAGTGC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 5 164058879 CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGGACCCAATTTTTATACAGAATAAGAAATGTAAGACAAATACTTGCTGACTCCTTGAAAGCTGAGGAATTAATCATGTGCATTTTACTTCAACCATTCTTAGTCTGACCTCTGAAGATAGACTTAACAGTGTTTATAACCTCCTCAGAAATATTTGAAGGATTGAGTTGTGACCATATGTGTAGATTTTTGTTGGTTTGTTTTATTTTTTGAGGCAGAGACTCCCTTGGTCACCTAGACTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCCACCTCCTGGGTTCAAGTG C 317 PASS - Del - 336 1 CHK2 child 5_164058879_CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGGACCCAATTTTTATACAGAATAAGAAATGTAAGACAAATACTTGCTGACTCCTTGAAAGCTGAGGAATTAATCATGTGCATTTTACTTCAACCATTCTTAGTCTGACCTCTGAAGATAGACTTAACAGTGTTTATAACCTCCTCAGAAATATTTGAAGGATTGAGTTGTGACCATATGTGTAGATTTTTGTTGGTTTGTTTTATTTTTTGAGGCAGAGACTCCCTTGGTCACCTAGACTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCCACCTCCTGGGTTCAAGTGC_CHK2 336 >=10 20 ATTCTCCTGCCTCAGCCTCC 0 - Microhomology-mediated 9b5e7b72-328a-11e6-9c1f-afbe38e8a824 8_40134718_CAGC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 8 40134718 CAG C 660 PASS - Del - 2 3 NUDT1 parent 8_40134718_CAGC_NUDT1 2 2 2 AG 2 AG Repeat-mediated 9b6254d0-326d-11e6-9f48-94df41c4520d 12_79444923_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 79444923 TA T 300 PASS SYT1 Del intronic 1 9 MSH6 child 12_79444923_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9b6a9f04-3278-11e6-a71d-236235cec73b X_48664587_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 48664587 G GT 720 PASS HDAC6 Ins intronic 1 2 MSH6 child X_48664587_GGT_MSH6 1 1 - - - - Ins 9b6f24cc-3271-11e6-9d19-c216987b3f23 21_44796478_GGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 44796478 G GC 300 PASS - Ins - 1 1 MSH6 child 21_44796478_GGC_MSH6 1 1 - - - - Ins 9b70a630-328f-11e6-9c89-8d090e01a414 1_110917601_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 110917601 G GT 300 PASS SLC16A4 Ins intronic 1 7 MSH6 child 1_110917601_GGT_MSH6 1 1 - - - - Ins 9b715e24-3283-11e6-aad6-a42d36fc2f7d 7_37104655_CAC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 7 37104655 CA C 360 PASS ELMO1 Del intronic 1 5 NUDT1 child 7_37104655_CAC_NUDT1 1 1 1 A 4 A Repeat-mediated 9b72c8e2-3286-11e6-b32c-fd87a2c71c31 5_38852201_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 38852201 AT A 1260 PASS OSMR Del intronic 1 5 MSH6 child 5_38852201_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 9b7a7610-328a-11e6-a7cf-80090e01a414 15_68351660_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 68351660 CT C 420 PASS PIAS1 Del intronic 1 7 MSH6 child 15_68351660_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9b7d85d4-3272-11e6-a89b-2697ecf1e924 2_80012125_CTC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 2 80012125 CT C 360 PASS CTNNA2 Del intronic 1 6 NEIL1 child 2_80012125_CTC_NEIL1 1 1 1 T 5 T Repeat-mediated 9b81389e-3283-11e6-b412-3b859cdf095d 2_221368988_TGT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 2 221368988 TG T 660 PASS AC067956.1 Del intronic 1 4 POLE child 2_221368988_TGT_POLE 1 1 1 G 3 G Repeat-mediated 9b815cd8-329d-11e6-ae71-0c5325c9da85 1_218367287_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 218367287 TA T 660 PASS - Del - 1 9 MSH6 child 1_218367287_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9b82d370-328d-11e6-b6a6-1f1e0e01a414 4_69745513_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 69745513 CA C 540 PASS - Del - 1 9 MSH6 child 4_69745513_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9b838ba8-3323-11e6-a3ad-101f42c4520d 22_22437104_GAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 22 22437104 GA G 420 PASS - Del - 1 7 CHK2 child 22_22437104_GAG_CHK2 1 1 1 A 6 A Repeat-mediated 9b8e1bc0-3276-11e6-92d2-c259c225ee11 3_20838234_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 20838234 AT A 540 PASS - Del - 1 6 MSH6 child 3_20838234_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9b8fdc9e-3285-11e6-a0a8-096ea2c71c31 11_115597126_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 115597126 AT A 480 PASS AP000797.3 Del intronic 1 8 MSH6 child 11_115597126_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9b93de0a-328c-11e6-8770-3e160e01a414 9_78435779_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 78435779 GT G 600 PASS - Del - 1 6 MSH6 child 9_78435779_GTG_MSH6 1 1 1 T 5 T Repeat-mediated 9b9f25fe-3272-11e6-b4ee-9405147bb207 10_129400664_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 10 129400664 CT C 600 PASS - Del - 1 9 MSH6 parent 10_129400664_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9bb03f06-328b-11e6-aa75-90c36f39e758 13_24561683_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 24561683 AT A 480 PASS SPATA13 Del intronic 1 7 MSH6 child 13_24561683_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 9bbc7794-3272-11e6-b799-add079852e0e 11_127897164_GTG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 11 127897164 GT G 300 PASS - Del - 1 8 FANCC child 11_127897164_GTG_FANCC 1 1 1 T 7 T Repeat-mediated 9bbd2c60-3345-11e6-b0ff-c495e84777f6 10_15269247_CCCTTGGCCTCCCAAAGTGTAGGGATTATAGGTGTGAGCCACTGCACCCGGCCGGAACAGTGATATTTGAAATCCAAGTTCAGTATTGTTTTCTTCCACACCACACTCTCAGGTCAGTTTTTGTCTGAACTGTCATTTTCTTTTTTGTTCTTTTGAGACAGGGTCTTGTTCTGTCACCCAGCTGGAGGGCAGTGGTGCAATCATGGCTCACTGTAGCCTCAACCTCCTGTGCTCAAGGGATCCTCCCATCTCAGCCTCCCAAATAGCTCAGACTACAGGCACGTGCTACCATGCCCAACTAACTTTGGTATTTTTTGTAGAGACAGTCTCAATATATTGCCCAGGATGGTCTTGAACTTCTGGACCCAAGTGATCCTCCTGC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 15269247 CCCTTGGCCTCCCAAAGTGTAGGGATTATAGGTGTGAGCCACTGCACCCGGCCGGAACAGTGATATTTGAAATCCAAGTTCAGTATTGTTTTCTTCCACACCACACTCTCAGGTCAGTTTTTGTCTGAACTGTCATTTTCTTTTTTGTTCTTTTGAGACAGGGTCTTGTTCTGTCACCCAGCTGGAGGGCAGTGGTGCAATCATGGCTCACTGTAGCCTCAACCTCCTGTGCTCAAGGGATCCTCCCATCTCAGCCTCCCAAATAGCTCAGACTACAGGCACGTGCTACCATGCCCAACTAACTTTGGTATTTTTTGTAGAGACAGTCTCAATATATTGCCCAGGATGGTCTTGAACTTCTGGACCCAAGTGATCCTCCTG C 300 PASS FAM171A1 Del intronic 380 1 FANCC child 10_15269247_CCCTTGGCCTCCCAAAGTGTAGGGATTATAGGTGTGAGCCACTGCACCCGGCCGGAACAGTGATATTTGAAATCCAAGTTCAGTATTGTTTTCTTCCACACCACACTCTCAGGTCAGTTTTTGTCTGAACTGTCATTTTCTTTTTTGTTCTTTTGAGACAGGGTCTTGTTCTGTCACCCAGCTGGAGGGCAGTGGTGCAATCATGGCTCACTGTAGCCTCAACCTCCTGTGCTCAAGGGATCCTCCCATCTCAGCCTCCCAAATAGCTCAGACTACAGGCACGTGCTACCATGCCCAACTAACTTTGGTATTTTTTGTAGAGACAGTCTCAATATATTGCCCAGGATGGTCTTGAACTTCTGGACCCAAGTGATCCTCCTGC_FANCC 380 >=10 16 CCTTGGCCTCCCAAAG 0 - Microhomology-mediated 9bc19dc2-328c-11e6-ac7a-a3c36f39e758 18_71076663_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 71076663 CA C 540 PASS - Del - 1 7 MSH6 child 18_71076663_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9bc2e924-3256-11e6-9d15-298312ae24cf X_31846208_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 31846208 CA C 480 PASS DMD Del intronic 1 7 MSH6 child X_31846208_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9bc36f80-328c-11e6-8256-94c36f39e758 17_53421168_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 53421168 CT C 540 PASS - Del - 1 7 MSH6 child 17_53421168_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9bcd874a-3291-11e6-919e-92c36f39e758 2_169191096_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 169191096 T TA 420 PASS - Ins - 1 8 MSH6 child 2_169191096_TTA_MSH6 1 1 - - - - Ins 9bd25678-3276-11e6-83cd-a472a178171f 4_114226791_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 114226791 GA G 340 PASS ANK2 Del intronic 1 6 MSH6 child 4_114226791_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 9bd9e628-3275-11e6-9e18-3a69671699ea 10_78953478_AAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 78953478 A AC 540 PASS KCNMA1 Ins intronic 1 3 MSH6 child 10_78953478_AAC_MSH6 1 1 - - - - Ins 9bdb44c2-328f-11e6-b978-4add977b3f23 9_140492120_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 9 140492120 AT A 300 PASS - Del - 1 5 NEIL1 child 9_140492120_ATA_NEIL1 1 1 1 T 4 T Repeat-mediated 9bdfb48c-327e-11e6-87e4-1c233dc9300a 2_66972040_GAG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 2 66972040 GA G 420 PASS - Del - 1 7 NEIL1 child 2_66972040_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated 9be1cde2-3280-11e6-8973-e1308e4678dd 11_18338467_CAAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 11 18338467 CAA C 480 PASS HPS5 Del intronic 2 4 FANCC child 11_18338467_CAAC_FANCC 2 2 2 AA 2 A Repeat-mediated 9be7b154-3284-11e6-ae26-b8936f39e758 16_61029323_AGAGA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 16 61029323 AGAG A 360 PASS - Del - 3 2 EXO1 child 16_61029323_AGAGA_EXO1 3 3 3 GAG 1 GAG Repeat-mediated 9bea132a-329f-11e6-91d0-016425c9da85 7_127958711_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 127958711 TA T 540 PASS RBM28 Del intronic 1 8 MSH6 child 7_127958711_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9bf61728-326e-11e6-9fba-41ebd8b4fa2c 11_74115865_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 74115865 AT A 660 PASS - Del - 1 9 MSH6 child 11_74115865_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9bfc9060-331f-11e6-be72-aff7191589db 14_22919304_TAT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 14 22919304 TA T 840 PASS - Del - 1 7 CHK2 parent 14_22919304_TAT_CHK2 1 1 1 A 6 A Repeat-mediated 9bff8d86-3272-11e6-af89-7600ebb8d062 5_76695518_CAC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 5 76695518 CA C 1020 PASS PDE8B Del intronic 1 8 NUDT1 child 5_76695518_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 9c1322bc-327a-11e6-92d2-c259c225ee11 3_110770011_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 110770011 C CT 420 PASS - Ins - 1 8 MSH6 child 3_110770011_CCT_MSH6 1 1 - - - - Ins 9c1b5638-326d-11e6-9f48-94df41c4520d 12_79775618_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 79775618 CT C 420 PASS SYT1 Del intronic 1 7 MSH6 child 12_79775618_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9c234cb4-3270-11e6-b89d-b2d6b0dab373 4_74265711_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 74265711 TA T 900 PASS ALB Del upstream 1 7 MSH6 child 4_74265711_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9c2c7f30-3272-11e6-975f-8246cab49462 16_13744600_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 13744600 CA C 480 PASS - Del - 1 7 MSH6 child 16_13744600_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9c344094-326d-11e6-b2ac-b6204b47a305 17_59974107_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 59974107 TA T 420 PASS INTS2 Del intronic 1 9 MSH6 child 17_59974107_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9c4230ec-328a-11e6-9035-7296cdacbbbf 2_178584606_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 2 178584606 CA C 300 PASS PDE11A Del intronic 1 9 FANCC child 2_178584606_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 9c46f9e4-329c-11e6-b549-1e5325c9da85 10_25760653_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 25760653 A AT 708 PASS GPR158 Ins intronic 1 5 MSH6 child 10_25760653_AAT_MSH6 1 1 - - - - Ins 9c4903a8-329a-11e6-bda6-065325c9da85 13_66505621_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 66505621 GA G 720 PASS - Del - 1 9 MSH6 child 13_66505621_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9c52243c-3322-11e6-9802-cf66694da5d2 12_69531313_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 12 69531313 TA T 300 PASS - Del - 1 8 EXO1 child 12_69531313_TAT_EXO1 1 1 1 A 7 A Repeat-mediated 9c5626b0-3276-11e6-be3d-b594a20b69d5 4_118320429_TAAAGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 4 118320429 TAAAG T 420 PASS - Del - 4 1 EXO1 child 4_118320429_TAAAGT_EXO1 4 4 3 AAA 0 - Microhomology-mediated 9c6790d4-3286-11e6-b32c-fd87a2c71c31 5_39296568_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 39296568 GA G 660 PASS C9 Del intronic 1 8 MSH6 child 5_39296568_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9c6bbe8e-326d-11e6-9793-9a8fb0dab373 13_91988390_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 91988390 GT G 540 PASS - Del - 1 7 MSH6 child 13_91988390_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 9c7044d6-3254-11e6-9f9d-2c7a7872c165 12_70821801_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 70821801 AT A 420 PASS KCNMB4 Del intronic 1 9 MSH6 child 12_70821801_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9c7bb91a-3290-11e6-bfa2-581f0e01a414 7_85230848_TTAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 85230848 T TAC 300 PASS - Ins - 2 8 MSH6 child 7_85230848_TTAC_MSH6 2 2 - - - - Ins 9c869c00-328a-11e6-a80b-87090e01a414 11_81737973_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 81737973 CT C 300 PASS RP11-179A16.1 Del intronic 1 4 MSH6 child 11_81737973_CTC_MSH6 1 1 1 T 3 T Repeat-mediated 9c86e1e8-32a2-11e6-bc66-17b4cc638e3d 8_81699714_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 81699714 C CA 600 PASS ZNF704 Ins intronic 1 1 MSH6 child 8_81699714_CCA_MSH6 1 1 - - - - Ins 9c913ba6-3285-11e6-9162-c3af90e2c2e6 2_150196265_TCT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 2 150196265 TC T 480 PASS LYPD6 Del intronic 1 6 POLE child 2_150196265_TCT_POLE 1 1 1 C 5 C Repeat-mediated 9c99bf62-327e-11e6-9322-0fb435761512 20_55131169_GTG . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 20 55131169 GT G 780 PASS - Del - 1 8 FANCC parent 20_55131169_GTG_FANCC 1 1 1 T 7 T Repeat-mediated 9c9c7808-3286-11e6-a5b3-3f1ebce6aa09 7_15113484_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 15113484 AT A 420 PASS - Del - 1 9 MSH6 child 7_15113484_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9ca93272-3273-11e6-abaf-4642cab49462 6_141156032_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 141156032 CA C 420 PASS - Del - 1 7 MSH6 child 6_141156032_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9cab0d30-328d-11e6-8dad-8fe0191589db 21_37070282_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 21 37070282 GA G 480 PASS RUNX1 Del intronic 1 9 FANCC child 21_37070282_GAG_FANCC 1 1 1 A 8 A Repeat-mediated 9cad71c0-3273-11e6-95d2-ed9a9cdf095d 19_10732113_TTTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 19 10732113 T TTG 300 PASS SLC44A2 Ins upstream 2 0 NUDT1 child 19_10732113_TTTG_NUDT1 2 2 - - - - Ins 9cc84066-3284-11e6-870e-6af1bbe6aa09 19_13043009_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 13043009 AT A 300 PASS FARSA Del intronic 1 9 MSH6 child 19_13043009_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9ccec090-3297-11e6-9c5d-eaf997ba1142 12_102188224_CGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTATTAAAATAAATAAATTTTAAAAATAAAAAATCTGTACAGAAACTAGCAAAATAATGAAAATATATCAATGTTATGGTATCTTAAAATATATTAGACCATGTGAAATGTTATATATGATCCATTTATTTGTCATCATCAAAATGAGGAAATTTTGAATATATGCCTACATAAAAATCAAACTATATTTTAATGCAACCTTCTAAACTTCTTTAGAAAGAGAACAAGAGTGTTTGATTAAAACTGCTGACCTCAAAATCTGCATTTTCTAATAAGCTAGTTTTCTTTCTAAAAGTTTAAAGCAGCTGGGCATGGTGACTCATCCCTTTAATCTCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGTCCAGGAGTTTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 12 102188224 CGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTATTAAAATAAATAAATTTTAAAAATAAAAAATCTGTACAGAAACTAGCAAAATAATGAAAATATATCAATGTTATGGTATCTTAAAATATATTAGACCATGTGAAATGTTATATATGATCCATTTATTTGTCATCATCAAAATGAGGAAATTTTGAATATATGCCTACATAAAAATCAAACTATATTTTAATGCAACCTTCTAAACTTCTTTAGAAAGAGAACAAGAGTGTTTGATTAAAACTGCTGACCTCAAAATCTGCATTTTCTAATAAGCTAGTTTTCTTTCTAAAAGTTTAAAGCAGCTGGGCATGGTGACTCATCCCTTTAATCTCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGTCCAGGAGTTT C 274 PASS GNPTAB Del intronic 418 1 CHK2 child 12_102188224_CGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTATTAAAATAAATAAATTTTAAAAATAAAAAATCTGTACAGAAACTAGCAAAATAATGAAAATATATCAATGTTATGGTATCTTAAAATATATTAGACCATGTGAAATGTTATATATGATCCATTTATTTGTCATCATCAAAATGAGGAAATTTTGAATATATGCCTACATAAAAATCAAACTATATTTTAATGCAACCTTCTAAACTTCTTTAGAAAGAGAACAAGAGTGTTTGATTAAAACTGCTGACCTCAAAATCTGCATTTTCTAATAAGCTAGTTTTCTTTCTAAAAGTTTAAAGCAGCTGGGCATGGTGACTCATCCCTTTAATCTCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGTCCAGGAGTTTC_CHK2 418 >=10 17 GAGACCAGCCTGGGCAA 0 - Microhomology-mediated 9ce1487c-329d-11e6-a5cf-e5abcc638e3d 9_107904659_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 107904659 CA C 420 PASS - Del - 1 8 MSH6 child 9_107904659_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9cecacf8-328e-11e6-8e48-791e0e01a414 8_66924616_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 66924616 GA G 420 PASS - Del - 1 9 MSH6 child 8_66924616_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9ced9344-329c-11e6-aca6-b39fcc638e3d 2_184527025_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 184527025 GA G 480 PASS - Del - 1 6 MSH6 child 2_184527025_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 9cee0966-328b-11e6-8fa6-65cc977b3f23 15_31055417_GAG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 15 31055417 GA G 767 PASS - Del - 1 8 NEIL1 child 15_31055417_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated 9d04b53a-3286-11e6-afcf-0311bce6aa09 9_98006075_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 98006075 CA C 480 PASS FANCC Del intronic 1 8 MSH6 child 9_98006075_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9d0992e4-3290-11e6-b81f-4ee66f39e758 8_58932609_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 58932609 GT G 480 PASS FAM110B Del intronic 1 8 MSH6 child 8_58932609_GTG_MSH6 1 1 1 T 7 T Repeat-mediated 9d0a4b4c-3256-11e6-b950-8759fa52e078 X_23010461_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA X 23010461 AT A 600 PASS RP11-40F8.2 Del intronic 1 6 POLM child X_23010461_ATA_POLM 1 1 1 T 5 T Repeat-mediated 9d0e8c1a-3284-11e6-a0a8-096ea2c71c31 11_23154140_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 23154140 CT C 780 PASS - Del - 1 9 MSH6 child 11_23154140_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9d11f786-3259-11e6-8cd9-139b7872c165 3_162846129_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 162846129 CA C 540 PASS RP11-10O22.1 Del intronic 1 9 MSH6 child 3_162846129_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9d154f82-3252-11e6-b676-5605ee3c4f5d 12_85770971_CTATC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 12 85770971 CTAT C 660 PASS - Del - 3 5 POLB child 12_85770971_CTATC_POLB 3 3 3 TAT 4 TAT Repeat-mediated 9d17d178-3291-11e6-9401-04ed6f39e758 3_116402963_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 116402963 CT C 420 PASS LSAMP Del intronic 1 8 MSH6 child 3_116402963_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9d17db5e-328d-11e6-ae53-96c36f39e758 15_88634198_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 88634198 CA C 420 PASS NTRK3 Del intronic 1 8 MSH6 child 15_88634198_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9d22f92e-328a-11e6-8459-82090e01a414 12_79444923_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 79444923 TA T 300 PASS SYT1 Del intronic 1 9 MSH6 child 12_79444923_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9d246b16-32a2-11e6-bc2c-2a5e25c9da85 4_171202659_GGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 171202659 G GC 780 PASS RP11-789C1.1 Ins intronic 1 5 MSH6 child 4_171202659_GGC_MSH6 1 1 - - - - Ins 9d30d8a4-329f-11e6-a04f-c66a25c9da85 6_23736165_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 23736165 GA G 540 PASS - Del - 1 6 MSH6 child 6_23736165_GAG_MSH6 1 1 1 A 5 A Repeat-mediated 9d395c04-3272-11e6-8165-0dc17872c165 9_140492120_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 9 140492120 AT A 300 PASS - Del - 1 5 NEIL1 child 9_140492120_ATA_NEIL1 1 1 1 T 4 T Repeat-mediated 9d3b9c80-3286-11e6-a21c-b819bce6aa09 X_48163322_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 48163322 CA C 338 PASS - Del - 1 9 MSH6 child X_48163322_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9d3da9f4-3271-11e6-9309-bdc34a47a305 8_136926129_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 136926129 AC A 420 PASS - Del - 1 1 MSH6 child 8_136926129_ACA_MSH6 1 1 0 - 0 C None 9d480fee-3284-11e6-8ebc-68f1bbe6aa09 18_29258287_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 29258287 CT C 600 PASS B4GALT6 Del intronic 1 9 MSH6 child 18_29258287_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9d539e5e-3270-11e6-b5b8-e0c24a47a305 X_71584747_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 71584747 AT A 300 PASS HDAC8 Del intronic 1 8 MSH6 child X_71584747_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9d559392-3272-11e6-a5d0-4fd14a47a305 2_21978433_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 21978433 CA C 300 PASS AC067959.1 Del intronic 1 8 MSH6 child 2_21978433_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9d5bdc96-3288-11e6-997d-e46e3adbad45 12_22726915_TTA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 12 22726915 T TA 420 PASS - Ins - 1 3 NUDT1 parent 12_22726915_TTA_NUDT1 1 1 - - - - Ins 9d5bec06-3286-11e6-afcf-0311bce6aa09 9_98120157_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 98120157 AT A 420 PASS - Del - 1 9 MSH6 child 9_98120157_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9d5ef148-32a0-11e6-bc66-17b4cc638e3d 8_122249454_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 122249454 CT C 660 PASS - Del - 1 7 MSH6 child 8_122249454_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9d6c2b22-3270-11e6-b923-6726694da5d2 5_78844187_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 78844187 CA C 300 PASS - Del - 1 7 MSH6 child 5_78844187_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9d6eff56-328d-11e6-a278-48230e01a414 21_15298358_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 15298358 GA G 480 PASS - Del - 1 8 MSH6 child 21_15298358_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9d79ff3a-3285-11e6-a0a8-096ea2c71c31 11_116427109_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 116427109 TA T 360 PASS - Del - 1 8 MSH6 child 11_116427109_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9d7f30ec-3274-11e6-b582-0da1cc638e3d 4_63346841_CTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 4 63346841 CT C 420 PASS - Del - 1 5 CHK2 child 4_63346841_CTC_CHK2 1 1 1 T 4 T Repeat-mediated 9d814942-329a-11e6-8d0f-075325c9da85 14_63678183_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 63678183 TA T 600 PASS RHOJ Del intronic 1 9 MSH6 child 14_63678183_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9d85ab5c-3274-11e6-a5d0-4fd14a47a305 2_196066734_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 196066734 TA T 540 PASS - Del - 1 9 MSH6 child 2_196066734_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9d88f814-3276-11e6-9e4c-96041ea8ec0e 5_12319883_GGCCAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 5 12319883 G GCCAC 360 PASS - Ins - 4 0 FANCC child 5_12319883_GGCCAC_FANCC 4 4 - - - - Ins 9d9735f6-329d-11e6-a5cf-e5abcc638e3d 9_108086868_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 108086868 CT C 480 PASS SLC44A1 Del intronic 1 5 MSH6 child 9_108086868_CTC_MSH6 1 1 1 T 4 T Repeat-mediated 9d9b1390-329a-11e6-aca6-b39fcc638e3d 2_56736694_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 56736694 CA C 420 PASS - Del - 1 6 MSH6 child 2_56736694_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 9da0e756-327d-11e6-8d42-cc2c0625f869 10_111857699_ATA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 10 111857699 AT A 540 PASS ADD3 Del intronic 1 7 POLB parent 10_111857699_ATA_POLB 1 1 1 T 6 T Repeat-mediated 9da94dac-3254-11e6-a4a7-35f212ae24cf 14_88844361_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 88844361 GA G 300 PASS - Del - 1 9 MSH6 child 14_88844361_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9db1c83c-3345-11e6-94cb-be633cfdbd24 16_13339244_CTTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 16 13339244 CTT C 300 PASS SHISA9 Del downstream 2 2 FANCC child 16_13339244_CTTC_FANCC 2 2 0 - 0 - None 9dc7e2b6-3278-11e6-92d2-c259c225ee11 3_169007943_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 169007943 CA C 420 PASS MECOM Del intronic 1 9 MSH6 child 3_169007943_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9dcba988-3286-11e6-a5b3-3f1ebce6aa09 7_15603473_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 15603473 CA C 480 PASS AGMO Del upstream 1 9 MSH6 child 7_15603473_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9dcc2d48-3274-11e6-b619-1803630e6611 16_75816269_CCTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 16 75816269 CCT C 900 PASS - Del - 2 1 CHK2 child 16_75816269_CCTC_CHK2 2 2 0 - 0 - None 9dd1e0ee-3288-11e6-a284-4b89a2c71c31 4_187951508_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 187951508 CA C 600 PASS - Del - 1 6 MSH6 child 4_187951508_CAC_MSH6 1 1 1 A 5 A Repeat-mediated 9ddc52d6-3256-11e6-b4d0-327a7872c165 11_77777209_TTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 77777209 T TC 420 PASS NDUFC2 Ins downstream 1 7 MSH6 child 11_77777209_TTC_MSH6 1 1 - - - - Ins 9ddd6e06-329b-11e6-ae71-0c5325c9da85 1_94088726_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 94088726 GA G 780 PASS BCAR3 Del intronic 1 2 MSH6 child 1_94088726_GAG_MSH6 1 1 1 A 1 A Repeat-mediated 9de2f814-3280-11e6-a5e9-0107694da5d2 7_19149904_TAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 19149904 TA T 300 PASS - Del - 1 8 NEIL1 child 7_19149904_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 9de46d56-3290-11e6-b77d-2eef6f39e758 6_12628289_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 12628289 TA T 421 PASS - Del - 1 5 MSH6 child 6_12628289_TAT_MSH6 1 1 1 A 4 A Repeat-mediated 9de69570-3274-11e6-a5d0-4fd14a47a305 2_196260417_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 196260417 GA G 840 PASS - Del - 1 4 MSH6 child 2_196260417_GAG_MSH6 1 1 1 A 3 A Repeat-mediated 9de848d0-328c-11e6-ac7a-a3c36f39e758 18_71713518_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 71713518 CT C 720 PASS - Del - 1 7 MSH6 child 18_71713518_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9de8562e-3280-11e6-9ec5-888f1ac527ab 13_41321906_GAGGAGGAGGTTGCG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 13 41321906 GAGGAGGAGGTTGC G 360 PASS MRPS31 Del intronic 13 1 FANCC child 13_41321906_GAGGAGGAGGTTGCG_FANCC 13 >=10 2 AG 0 - Microhomology-mediated 9dece454-328b-11e6-bdca-61cc977b3f23 10_15827181_TACAGT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 10 15827181 TACAG T 660 PASS FAM188A Del intronic 4 1 NEIL1 child 10_15827181_TACAGT_NEIL1 4 4 3 ACA 0 - Microhomology-mediated 9def50e4-3322-11e6-ba3d-227d3adbad45 4_45449247_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 4 45449247 AT A 420 PASS - Del - 1 7 CHK2 child 4_45449247_ATA_CHK2 1 1 1 T 6 T Repeat-mediated 9df36588-3284-11e6-ae26-b8936f39e758 16_62336592_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 16 62336592 GT G 300 PASS - Del - 1 9 EXO1 child 16_62336592_GTG_EXO1 1 1 1 T 8 T Repeat-mediated 9df3a62e-329d-11e6-94ca-0aaecc638e3d X_58243235_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 58243235 TA T 480 PASS - Del - 1 8 MSH6 child X_58243235_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9df6cd02-329a-11e6-b74d-b59fcc638e3d 18_51422312_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 51422312 CA C 480 PASS - Del - 1 9 MSH6 child 18_51422312_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9df742bc-32a1-11e6-b696-dd6225c9da85 5_116035283_TTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 116035283 T TC 540 PASS - Ins - 1 2 MSH6 child 5_116035283_TTC_MSH6 1 1 - - - - Ins 9dfeb0f0-328e-11e6-b9c4-751d0e01a414 5_160764797_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 160764797 CA C 360 PASS GABRB2 Del intronic 1 9 MSH6 child 5_160764797_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9e0add18-3283-11e6-8b62-2d0d987b3f23 9_5615733_TAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 9 5615733 TA T 480 PASS - Del - 1 8 NEIL1 parent 9_5615733_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated 9e0bf254-3259-11e6-8cd9-139b7872c165 3_163027440_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 163027440 AC A 420 PASS CT64 Del intronic 1 6 MSH6 child 3_163027440_ACA_MSH6 1 1 1 C 5 C Repeat-mediated 9e20d20a-3254-11e6-bf41-357a7872c165 10_74209166_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 74209166 AT A 540 PASS MICU1 Del intronic 1 9 MSH6 child 10_74209166_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9e444814-3279-11e6-83cd-a472a178171f 4_129062393_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 129062393 C CA 600 PASS LARP1B Ins intronic 1 4 MSH6 child 4_129062393_CCA_MSH6 1 1 - - - - Ins 9e5d3960-3287-11e6-9a8e-d2b1f6dffcf6 1_93154929_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 93154929 CT C 480 PASS EVI5 Del intronic 1 9 NUDT1 parent 1_93154929_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated 9e5d4f8c-328b-11e6-bdca-61cc977b3f23 10_15996490_TGAAGT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 10 15996490 TGAAG T 900 PASS - Del - 4 2 NEIL1 child 10_15996490_TGAAGT_NEIL1 4 4 4 GAAG 1 GAAG Repeat-mediated 9e5dc2dc-329a-11e6-b74d-b59fcc638e3d 18_51541700_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 51541700 AT A 540 PASS - Del - 1 6 MSH6 child 18_51541700_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9e65e520-3272-11e6-a5d0-4fd14a47a305 2_22676040_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 22676040 AT A 420 PASS AC068490.2 Del intronic 1 8 MSH6 child 2_22676040_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9e6ab448-3258-11e6-9f82-71a92aaffa45 6_25746818_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 6 25746818 CA C 480 PASS - Del - 1 9 POLM child 6_25746818_CAC_POLM 1 1 1 A 8 A Repeat-mediated 9e6b2898-3275-11e6-8c15-5448694da5d2 5_93197682_GTAATAGAGAACTTGGAACG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 5 93197682 GTAATAGAGAACTTGGAAC G 300 PASS FAM172A Del intronic 18 1 NEIL1 child 5_93197682_GTAATAGAGAACTTGGAACG_NEIL1 18 >=10 4 TAAT 0 - Microhomology-mediated 9e6c29de-3287-11e6-b32c-fd87a2c71c31 5_152653832_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 152653832 TA T 360 PASS - Del - 1 8 MSH6 child 5_152653832_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9e7ad278-3259-11e6-8cd9-139b7872c165 3_163322711_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 163322711 TA T 300 PASS - Del - 1 7 MSH6 child 3_163322711_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9e7c40be-3285-11e6-be43-0a6ea2c71c31 10_104011797_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 104011797 TA T 360 PASS GBF1 Del intronic 1 6 MSH6 child 10_104011797_TAT_MSH6 1 1 1 A 5 A Repeat-mediated 9e838ab2-3272-11e6-b799-add079852e0e 11_128858961_CAAATC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 11 128858961 CAAAT C 300 PASS ARHGAP32 Del intronic 4 1 FANCC child 11_128858961_CAAATC_FANCC 4 4 2 AA 0 - Microhomology-mediated 9e858c90-3272-11e6-b209-994b3cfdbd24 15_75837094_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 15 75837094 GA G 480 PASS PTPN9 Del intronic 1 9 MSH6 parent 15_75837094_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9e91cd14-328d-11e6-8459-82090e01a414 12_120420683_AAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 120420683 A AG 960 PASS - Ins - 1 3 MSH6 child 12_120420683_AAG_MSH6 1 1 - - - - Ins 9e92c662-329a-11e6-aca6-b39fcc638e3d 2_57170491_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 57170491 AT A 600 PASS - Del - 1 9 MSH6 child 2_57170491_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9e938a08-3294-11e6-a18f-4ded97ba1142 9_108281629_CAC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 9 108281629 CA C 467 PASS FSD1L Del intronic 1 9 POLB child 9_108281629_CAC_POLB 1 1 1 A 8 A Repeat-mediated 9e96507c-3275-11e6-b209-994b3cfdbd24 15_84534673_AAAAAC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 15 84534673 A AAAAC 299 PASS ADAMTSL3 Ins intronic 4 0 MSH6 parent 15_84534673_AAAAAC_MSH6 4 4 - - - - Ins 9e9761d0-328c-11e6-9c1f-afbe38e8a824 8_106361183_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 8 106361183 TA T 300 PASS ZFPM2 Del intronic 1 5 NUDT1 parent 8_106361183_TAT_NUDT1 1 1 1 A 4 A Repeat-mediated 9e9c6e42-3290-11e6-9230-fb250e01a414 3_178387149_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 178387149 CA C 360 PASS KCNMB2 Del intronic 1 8 MSH6 child 3_178387149_CAC_MSH6 1 1 1 A 7 A Repeat-mediated 9eb7d30a-327a-11e6-a8d8-3e6075253f64 3_146573060_GGT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 146573060 G GT 300 PASS - Ins - 1 2 FANCC child 3_146573060_GGT_FANCC 1 1 - - - - Ins 9eba5140-3278-11e6-9608-84e46de4ab00 7_63809718_CCT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 7 63809718 C CT 600 PASS ZNF736 Ins 3prime_UTR_variant 1 8 EXO1 child 7_63809718_CCT_EXO1 1 1 - - - - Ins 9ebc35ce-329a-11e6-aca6-b39fcc638e3d 2_57286696_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 57286696 CA C 660 PASS - Del - 1 9 MSH6 child 2_57286696_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9ec14340-3275-11e6-94fa-fb6bcde16804 9_114133595_CTC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 9 114133595 CT C 480 PASS KIAA0368 Del intronic 1 1 POLB child 9_114133595_CTC_POLB 1 1 0 - 0 T None 9ec14fbc-3323-11e6-af46-df1198ba1142 7_77669281_CCTGC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 7 77669281 CCTG C 300 PASS MAGI2 Del intronic 3 1 POLE child 7_77669281_CCTGC_POLE 3 3 2 CT 0 - Microhomology-mediated 9ec18d22-3271-11e6-b4bf-85eb97ba1142 2_235460552_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 235460552 AT A 280 PASS - Del - 1 9 EXO1 parent 2_235460552_ATA_EXO1 1 1 1 T 8 T Repeat-mediated 9ec8fa56-325a-11e6-8b28-55ad7872c165 20_215723_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 215723 CA C 1020 PASS - Del - 1 9 MSH6 child 20_215723_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9ed11b72-3323-11e6-ba48-d8ad2aaffa45 8_14475397_GAG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 8 14475397 GA G 300 PASS SGCZ Del intronic 1 5 POLE child 8_14475397_GAG_POLE 1 1 1 A 4 A Repeat-mediated 9ed16974-32a1-11e6-91d0-016425c9da85 7_84983872_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 84983872 A AT 1140 PASS - Ins - 1 8 MSH6 child 7_84983872_AAT_MSH6 1 1 - - - - Ins 9ed6af86-326c-11e6-9003-ae204b47a305 19_1378710_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 1378710 TA T 300 PASS MUM1 Del downstream 1 8 MSH6 child 19_1378710_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9ee76c68-3325-11e6-a5dc-75b8cde16804 1_65820680_TTTGGGC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 65820680 T TTGGGC 300 PASS DNAJC6 Ins intronic 5 0 EXO1 child 1_65820680_TTTGGGC_EXO1 5 5 - - - - Ins 9ef2df32-3283-11e6-baa3-81ed1da8ec0e X_42022385_GAGGATTCCCAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 42022385 GAGGATTCCCA G 600 PASS - Del - 10 1 EXO1 child X_42022385_GAGGATTCCCAG_EXO1 10 >=10 3 AGG 0 - Microhomology-mediated 9ef53c18-3270-11e6-a539-0e5542c4520d 7_119001189_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 119001189 CA C 300 PASS - Del - 1 9 MSH6 child 7_119001189_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9efd710c-328a-11e6-8459-82090e01a414 12_79775618_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 79775618 CT C 420 PASS SYT1 Del intronic 1 7 MSH6 child 12_79775618_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9f0260fe-328f-11e6-9230-fb250e01a414 3_114298538_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 114298538 TA T 480 PASS ZBTB20 Del intronic 1 8 MSH6 child 3_114298538_TAT_MSH6 1 1 1 A 7 A Repeat-mediated 9f062dfc-329d-11e6-ae71-0c5325c9da85 1_219221367_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 219221367 GA G 1320 PASS - Del - 1 8 MSH6 child 1_219221367_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9f0cfc06-328c-11e6-8eee-76090e01a414 10_83053796_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 83053796 G GT 600 PASS - Ins - 1 6 MSH6 child 10_83053796_GGT_MSH6 1 1 - - - - Ins 9f0ef0b0-3291-11e6-b3a9-d5afe7d0bdd7 4_142173892_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 142173892 CA C 420 PASS RP11-586L23.1 Del intronic 1 9 FANCC child 4_142173892_CAC_FANCC 1 1 1 A 8 A Repeat-mediated 9f15e0dc-3273-11e6-9e18-3a69671699ea 10_83538559_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 83538559 GT G 540 PASS - Del - 1 7 MSH6 child 10_83538559_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 9f192842-329a-11e6-8069-175325c9da85 12_47952757_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 47952757 TA T 300 PASS - Del - 1 4 MSH6 child 12_47952757_TAT_MSH6 1 1 1 A 3 A Repeat-mediated 9f1ad382-3280-11e6-ba80-c6262eaed38e 2_31266597_ACTAGGTA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 2 31266597 ACTAGGT A 360 PASS GALNT14 Del intronic 6 1 POLB child 2_31266597_ACTAGGTA_POLB 6 6 1 C 0 - Microhomology-mediated 9f1bb5cc-328f-11e6-9432-c0e56f39e758 5_71321149_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 71321149 CA C 360 PASS - Del - 1 7 MSH6 child 5_71321149_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9f1d63ba-326f-11e6-b923-6726694da5d2 5_10817865_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 10817865 CA C 540 PASS - Del - 1 7 MSH6 child 5_10817865_CAC_MSH6 1 1 1 A 6 A Repeat-mediated 9f1d8fa2-3274-11e6-a5d0-4fd14a47a305 2_196500604_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 196500604 AT A 540 PASS SLC39A10 Del intronic 1 7 MSH6 child 2_196500604_ATA_MSH6 1 1 1 T 6 T Repeat-mediated 9f2168ae-3290-11e6-9432-c0e56f39e758 5_142816193_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 142816193 CT C 360 PASS NR3C1 Del upstream 1 8 MSH6 child 5_142816193_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9f217910-328c-11e6-919e-92c36f39e758 2_73739680_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 73739680 AT A 360 PASS ALMS1 Del intronic 1 8 MSH6 child 2_73739680_ATA_MSH6 1 1 1 T 7 T Repeat-mediated 9f253b46-3286-11e6-b32c-fd87a2c71c31 5_40664655_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 40664655 TA T 460 PASS - Del - 1 9 MSH6 child 5_40664655_TAT_MSH6 1 1 1 A 8 A Repeat-mediated 9f2763e4-3290-11e6-bb1e-70e16f39e758 X_26383364_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 26383364 G GA 540 PASS - Ins - 1 6 MSH6 child X_26383364_GGA_MSH6 1 1 - - - - Ins 9f2fdd76-3321-11e6-923f-078b3cfdbd24 18_69082272_TTAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 18 69082272 TTA T 300 PASS - Del - 2 8 EXO1 child 18_69082272_TTAT_EXO1 2 2 2 TA 7 TA Repeat-mediated 9f323db2-3292-11e6-9280-9ce5d0959d89 11_17055679_CTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 11 17055679 CT C 653 PASS - Del - 1 3 POLB child 11_17055679_CTC_POLB 1 1 1 T 2 T Repeat-mediated 9f35ae0e-3286-11e6-b093-c9c7b0dab373 2_182163085_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 182163085 TA T 720 PASS AC104820.2 Del intronic 1 7 MSH6 child 2_182163085_TAT_MSH6 1 1 1 A 6 A Repeat-mediated 9f391588-328d-11e6-a278-48230e01a414 21_15860320_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 15860320 CT C 600 PASS SAMSN1 Del intronic 1 8 MSH6 child 21_15860320_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9f3eb7d0-3284-11e6-870e-6af1bbe6aa09 19_13667337_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 13667337 AT A 600 PASS - Del - 1 5 MSH6 child 19_13667337_ATA_MSH6 1 1 1 T 4 T Repeat-mediated 9f3f0bc6-3258-11e6-8cd9-139b7872c165 3_79590117_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 79590117 CT C 1140 PASS ROBO1 Del intronic 1 7 MSH6 child 3_79590117_CTC_MSH6 1 1 1 T 6 T Repeat-mediated 9f3f840e-3256-11e6-9cd8-27f912ae24cf 7_131163224_GTTCG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 7 131163224 GTTC G 840 PASS MKLN1 Del intronic 3 2 POLB child 7_131163224_GTTCG_POLB 3 3 3 TTC 1 TTC Repeat-mediated 9f457384-3290-11e6-b81f-4ee66f39e758 8_59546074_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 59546074 AC A 840 PASS NSMAF Del intronic 1 2 MSH6 child 8_59546074_ACA_MSH6 1 1 1 C 1 C Repeat-mediated 9f482816-329c-11e6-bda6-065325c9da85 13_98431312_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 98431312 G GT 540 PASS - Ins - 1 7 MSH6 child 13_98431312_GGT_MSH6 1 1 - - - - Ins 9f4d5f62-3273-11e6-9b10-3e7da20b69d5 15_98572065_CAC . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 15 98572065 CA C 300 PASS RNU6-134P Del downstream 1 8 NUDT1 child 15_98572065_CAC_NUDT1 1 1 1 A 7 A Repeat-mediated 9f65dea2-3291-11e6-b3a9-d5afe7d0bdd7 4_142411169_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 142411169 CT C 420 PASS - Del - 1 4 FANCC child 4_142411169_CTC_FANCC 1 1 1 T 3 T Repeat-mediated 9f673d5e-3275-11e6-9c69-5197cdacbbbf 8_103319687_TAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 8 103319687 TA T 540 PASS UBR5 Del intronic 1 4 NUDT1 child 8_103319687_TAT_NUDT1 1 1 1 A 3 A Repeat-mediated 9f6b61f6-3273-11e6-9e18-3a69671699ea 10_83629074_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 83629074 GA G 480 PASS - Del - 1 8 MSH6 child 10_83629074_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9f7182ce-3274-11e6-9ac5-e82e84482639 11_134066011_TAAGAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 11 134066011 TAAGA T 660 PASS NCAPD3 Del intronic 4 2 EXO1 child 11_134066011_TAAGAT_EXO1 4 4 4 AAGA 1 AAGA Repeat-mediated 9f7428c2-328c-11e6-8770-3e160e01a414 9_79484819_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 79484819 AT A 300 PASS PRUNE2 Del intronic 1 6 MSH6 child 9_79484819_ATA_MSH6 1 1 1 T 5 T Repeat-mediated 9f79dc20-3257-11e6-acc5-308412ae24cf 5_84877963_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 84877963 GT G 540 PASS - Del - 1 7 MSH6 child 5_84877963_GTG_MSH6 1 1 1 T 6 T Repeat-mediated 9f7b2b68-3322-11e6-9611-6b5266a58581 9_34398582_TGT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 9 34398582 TG T 900 PASS FAM219A Del 3prime_UTR_variant 1 8 CHK2 parent 9_34398582_TGT_CHK2 1 1 1 G 7 G Repeat-mediated 9f8467c6-3275-11e6-83cd-a472a178171f 4_39636456_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 39636456 GA G 660 PASS SMIM14 Del intronic 1 9 MSH6 child 4_39636456_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9f8747dc-326d-11e6-b2ac-b6204b47a305 17_60608252_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 60608252 CT C 571 PASS TLK2 Del intronic 1 9 MSH6 child 17_60608252_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9f87e532-3283-11e6-83f8-60792aaffa45 7_43244945_CAAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 7 43244945 CAA C 780 PASS HECW1 Del intronic 2 3 POLE child 7_43244945_CAAC_POLE 2 2 1 A 0 - Microhomology-mediated 9f8a2224-328e-11e6-9d24-ade56f39e758 7_4413952_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 4413952 GA G 600 PASS - Del - 1 8 MSH6 child 7_4413952_GAG_MSH6 1 1 1 A 7 A Repeat-mediated 9f8c93f0-3271-11e6-9d19-c216987b3f23 21_45972436_CCG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 45972436 C CG 420 PASS TSPEAR Ins intronic 1 2 MSH6 child 21_45972436_CCG_MSH6 1 1 - - - - Ins 9f913684-3321-11e6-925a-9564694da5d2 2_65082958_ACTA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 2 65082958 ACT A 420 PASS AC007880.1 Del intronic 2 3 POLE child 2_65082958_ACTA_POLE 2 2 2 CT 2 CT Repeat-mediated 9f9f7fe6-326d-11e6-9793-9a8fb0dab373 13_93258339_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 93258339 CT C 300 PASS GPC5 Del intronic 1 8 MSH6 child 13_93258339_CTC_MSH6 1 1 1 T 7 T Repeat-mediated 9fa60944-3270-11e6-8418-1c5942c4520d 3_60092083_ATCTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 60092083 ATCT A 540 PASS FHIT Del intronic 3 2 MSH6 child 3_60092083_ATCTA_MSH6 3 3 3 TCT 1 TCT Repeat-mediated 9fa6aa12-329c-11e6-8d0f-075325c9da85 14_81405135_TTTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 81405135 T TTA 300 PASS CEP128 Ins intronic 2 1 MSH6 child 14_81405135_TTTA_MSH6 2 2 - - - - Ins 9fa84d02-3294-11e6-a18f-4ded97ba1142 9_109065880_ATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 9 109065880 AT A 540 PASS RP11-308N19.1 Del intronic 1 6 POLB child 9_109065880_ATA_POLB 1 1 1 T 5 T Repeat-mediated 9faa999e-3277-11e6-9019-27a01da8ec0e 6_111811066_TCT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 6 111811066 TC T 360 PASS - Del - 1 7 FANCC child 6_111811066_TCT_FANCC 1 1 1 C 6 C Repeat-mediated 9fac8252-3283-11e6-81fd-f903987b3f23 2_174828026_ATA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 2 174828026 AT A 480 PASS SP3 Del intronic 1 8 NEIL1 parent 2_174828026_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated 9fb20048-3287-11e6-a1c7-605851c54cdd X_76873192_CTC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA X 76873192 CT C 480 PASS ATRX Del intronic 1 8 EXO1 child X_76873192_CTC_EXO1 1 1 1 T 7 T Repeat-mediated 9fb2c6be-3259-11e6-885f-d1947872c165 4_46321986_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 46321986 T TA 480 PASS GABRA2 Ins intronic 1 7 MSH6 child 4_46321986_TTA_MSH6 1 1 - - - - Ins 9fb8f868-327c-11e6-809e-fbdaeff7a29c 12_14285903_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 12 14285903 TA T 540 PASS - Del - 1 5 POLB parent 12_14285903_TAT_POLB 1 1 1 A 4 A Repeat-mediated 9fc1a48a-3278-11e6-92d2-c259c225ee11 3_169737061_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 169737061 CT C 540 PASS - Del - 1 9 MSH6 child 3_169737061_CTC_MSH6 1 1 1 T 8 T Repeat-mediated 9fc5c4fe-328a-11e6-8353-a446fd44d094 1_169397036_CATC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 169397036 CAT C 540 PASS CCDC181 Del intronic 2 2 FANCC child 1_169397036_CATC_FANCC 2 2 2 AT 1 AT Repeat-mediated 9fc9ebec-326c-11e6-acc7-e55219a91649 1_23010564_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 23010564 CA C 360 PASS - Del - 1 9 MSH6 child 1_23010564_CAC_MSH6 1 1 1 A 8 A Repeat-mediated 9fccf868-3286-11e6-8b67-086ea2c71c31 1_200782846_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 200782846 GA G 720 PASS CAMSAP2 Del intronic 1 7 MSH6 child 1_200782846_GAG_MSH6 1 1 1 A 6 A Repeat-mediated 9fd5f58e-3291-11e6-9918-e08630158702 10_7023018_GAG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 10 7023018 GA G 480 PASS - Del - 1 6 NUDT1 child 10_7023018_GAG_NUDT1 1 1 1 A 5 A Repeat-mediated 9fde4c4a-3271-11e6-9d19-c216987b3f23 21_46103713_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 46103713 C CA 300 PASS TSPEAR Ins intronic 1 5 MSH6 child 21_46103713_CCA_MSH6 1 1 - - - - Ins 9fe9a584-328c-11e6-8256-94c36f39e758 17_54561723_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 54561723 GA G 420 PASS ANKFN1 Del downstream 1 9 MSH6 child 17_54561723_GAG_MSH6 1 1 1 A 8 A Repeat-mediated 9fea3050-328f-11e6-8f31-bfe16f39e758 9_132848814_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 132848814 AT A 720 PASS GPR107 Del intronic 1 9 MSH6 child 9_132848814_ATA_MSH6 1 1 1 T 8 T Repeat-mediated 9fedf3b8-3279-11e6-92c7-b3b42aaffa45 20_2537251_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 20 2537251 TA T 474 PASS TMC2 Del intronic 1 9 EXO1 child 20_2537251_TAT_EXO1 1 1 1 A 8 A Repeat-mediated 9fef82e2-3273-11e6-a3dd-600b4ec77248 2_15914586_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 2 15914586 CT C 528 PASS - Del - 1 9 EXO1 child 2_15914586_CTC_EXO1 1 1 1 T 8 T Repeat-mediated a007cac6-328e-11e6-b960-ae6919a91649 15_30967054_AAGA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 15 30967054 AAG A 300 PASS - Del - 2 1 NEIL1 child 15_30967054_AAGA_NEIL1 2 2 1 A 0 - Microhomology-mediated a008fcf6-3253-11e6-9f9d-2c7a7872c165 12_7740265_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 7740265 CA C 600 PASS - Del - 1 8 MSH6 child 12_7740265_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a00ed68e-3290-11e6-9d97-efe56f39e758 4_135160054_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 135160054 AT A 480 PASS - Del - 1 8 MSH6 child 4_135160054_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a01713e4-326d-11e6-bc62-6d4742c4520d 16_75083209_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 75083209 CT C 480 PASS ZNRF1 Del intronic 1 8 MSH6 child 16_75083209_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a018f034-328a-11e6-821d-8c090e01a414 13_101947929_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 101947929 AT A 360 PASS NALCN Del intronic 1 9 MSH6 child 13_101947929_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a01e8436-3258-11e6-8cd9-139b7872c165 3_79834890_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 79834890 GA G 300 PASS - Del - 1 9 MSH6 child 3_79834890_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a021ac02-3275-11e6-9e0f-7959cab49462 7_12403233_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 12403233 AT A 1020 PASS VWDE Del intronic 1 6 MSH6 child 7_12403233_ATA_MSH6 1 1 1 T 5 T Repeat-mediated a022785e-3292-11e6-b57a-64b34430f757 8_66183232_AAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 8 66183232 A AT 540 PASS - Ins - 1 9 POLE child 8_66183232_AAT_POLE 1 1 - - - - Ins a0284b44-3288-11e6-8f9e-1f8aa178171f 4_1189498_ACA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 4 1189498 AC A 480 PASS SPON2 Del upstream 1 6 FANCC child 4_1189498_ACA_FANCC 1 1 1 C 5 C Repeat-mediated a0309d92-328f-11e6-8e48-791e0e01a414 8_140906805_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 140906805 AG A 360 PASS TRAPPC9 Del intronic 1 8 MSH6 child 8_140906805_AGA_MSH6 1 1 1 G 7 G Repeat-mediated a032d32a-3283-11e6-8f58-97e3d4957ca3 20_32489381_GTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 20 32489381 GT G 360 PASS - Del - 1 7 NEIL1 child 20_32489381_GTG_NEIL1 1 1 1 T 6 T Repeat-mediated a0345e32-3258-11e6-9d15-298312ae24cf X_148611134_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 148611134 TA T 720 PASS IDS Del splice_region 1 7 MSH6 child X_148611134_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a03f4c7a-328a-11e6-a80b-87090e01a414 11_82721584_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 82721584 TC T 480 PASS RAB30 Del intronic 1 1 MSH6 child 11_82721584_TCT_MSH6 1 1 0 - 0 C None a041e5e2-3277-11e6-909e-86e86de4ab00 3_14029602_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 3 14029602 GT G 480 PASS TPRXL Del intronic 1 9 EXO1 child 3_14029602_GTG_EXO1 1 1 1 T 8 T Repeat-mediated a0470a94-328c-11e6-b6a6-1f1e0e01a414 4_11162308_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 11162308 GA G 540 PASS - Del - 1 7 MSH6 child 4_11162308_GAG_MSH6 1 1 1 A 6 A Repeat-mediated a048952e-328e-11e6-b8c1-a64daa5f95ce 9_102716915_CTTAC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 9 102716915 CTTA C 840 PASS STX17 Del intronic 3 2 POLE child 9_102716915_CTTAC_POLE 3 3 3 TTA 1 TTA Repeat-mediated a048c752-3256-11e6-acc5-308412ae24cf 5_17934021_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 17934021 CT C 360 PASS RP11-454P21.1 Del downstream 1 9 MSH6 child 5_17934021_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a04ac592-3275-11e6-88aa-2d54a966024e 7_114679385_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 114679385 GA G 840 PASS - Del - 1 6 MSH6 parent 7_114679385_GAG_MSH6 1 1 1 A 5 A Repeat-mediated a0602cbe-329a-11e6-aca6-b39fcc638e3d 2_57480468_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 57480468 AC A 600 PASS - Del - 1 6 MSH6 child 2_57480468_ACA_MSH6 1 1 1 C 5 C Repeat-mediated a06943b6-328c-11e6-8952-77c36f39e758 10_69867993_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 69867993 CT C 480 PASS MYPN Del upstream 1 7 MSH6 child 10_69867993_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a06b62cc-327d-11e6-bd4a-308890e2c2e6 3_59817001_TATGT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 3 59817001 TATG T 360 PASS FHIT Del intronic 3 8 FANCC parent 3_59817001_TATGT_FANCC 3 3 3 ATG 7 ATG Repeat-mediated a06bcbae-329b-11e6-b549-1e5325c9da85 10_105221146_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 105221146 AT A 300 PASS CALHM1 Del upstream 1 2 MSH6 child 10_105221146_ATA_MSH6 1 1 1 T 1 T Repeat-mediated a06f31d8-3276-11e6-9074-69cc19a91649 X_87223275_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA X 87223275 AT A 420 PASS - Del - 1 9 EXO1 child X_87223275_ATA_EXO1 1 1 1 T 8 T Repeat-mediated a071e566-3287-11e6-a21c-b819bce6aa09 X_107960701_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 107960701 AT A 420 PASS - Del - 1 9 MSH6 child X_107960701_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a072b414-328c-11e6-bd84-429305ad5bc4 1_151039507_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 151039507 CT C 660 PASS GABPB2 Del upstream 1 8 MSH6 child 1_151039507_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a07c2b50-3275-11e6-bfcc-6defed3c4f5d 2_165786482_GTG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 2 165786482 GT G 420 PASS SLC38A11 Del intronic 1 9 NEIL1 child 2_165786482_GTG_NEIL1 1 1 1 T 8 T Repeat-mediated a081def8-328c-11e6-a80b-87090e01a414 11_73240540_TTTTCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 73240540 T TTTCA 480 PASS FAM168A Ins intronic 4 0 MSH6 child 11_73240540_TTTTCA_MSH6 4 4 - - - - Ins a0837dae-328b-11e6-9c12-b6c430158702 2_140733640_GATG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 2 140733640 GAT G 360 PASS - Del - 2 5 POLM child 2_140733640_GATG_POLM 2 2 2 AT 4 AT Repeat-mediated a0897346-328e-11e6-9230-fb250e01a414 3_48302654_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 48302654 TA T 540 PASS ZNF589 Del intronic 1 9 MSH6 child 3_48302654_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a08ce436-3284-11e6-8313-52c92daed38e 6_56841248_CTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCATGCCCAGCCGCGTTAGTGCTTCTAAGGCAGAGTGGAGTGTAGATTATTTTATTACAAAATTAGGTGGCAAAGGACTGTGGGGTTTGTTTGTTTGTTTGAGCCAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGTCACCACACCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCACCATGTTGGCCAAGCTGGCCTTGAATTACTGGCCTTAAGTGATCCGCCTGCCTCAGCTC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 6 56841248 CTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCATGCCCAGCCGCGTTAGTGCTTCTAAGGCAGAGTGGAGTGTAGATTATTTTATTACAAAATTAGGTGGCAAAGGACTGTGGGGTTTGTTTGTTTGTTTGAGCCAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGTCACCACACCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCACCATGTTGGCCAAGCTGGCCTTGAATTACTGGCCTTAAGTGATCCGCCTGCCTCAGCT C 300 PASS BEND6 Del intronic 370 1 POLB child 6_56841248_CTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCATGCCCAGCCGCGTTAGTGCTTCTAAGGCAGAGTGGAGTGTAGATTATTTTATTACAAAATTAGGTGGCAAAGGACTGTGGGGTTTGTTTGTTTGTTTGAGCCAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGTCACCACACCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCACCATGTTGGCCAAGCTGGCCTTGAATTACTGGCCTTAAGTGATCCGCCTGCCTCAGCTC_POLB 370 >=10 24 TCCCAAAGTGCTGGGATTACAGGC 0 - Microhomology-mediated a091e3e4-328b-11e6-919e-92c36f39e758 2_10139244_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 10139244 AC A 660 PASS GRHL1 Del intronic 1 6 MSH6 child 2_10139244_ACA_MSH6 1 1 1 C 5 C Repeat-mediated a095242a-3284-11e6-9daa-026ea2c71c31 14_47546156_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 47546156 AT A 360 PASS MDGA2 Del intronic 1 6 MSH6 child 14_47546156_ATA_MSH6 1 1 1 T 5 T Repeat-mediated a09a154a-328c-11e6-8256-94c36f39e758 17_54778154_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 54778154 TC T 540 PASS - Del - 1 6 MSH6 child 17_54778154_TCT_MSH6 1 1 1 C 5 C Repeat-mediated a0b10d7c-3273-11e6-9e18-3a69671699ea 10_84189728_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 84189728 CT C 420 PASS NRG3 Del intronic 1 7 MSH6 child 10_84189728_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a0b49614-3290-11e6-9d97-efe56f39e758 4_135486805_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 135486805 GT G 660 PASS - Del - 1 6 MSH6 child 4_135486805_GTG_MSH6 1 1 1 T 5 T Repeat-mediated a0bafffa-328f-11e6-b8e6-91c36f39e758 11_134528970_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 134528970 G GA 420 PASS - Ins - 1 8 MSH6 child 11_134528970_GGA_MSH6 1 1 - - - - Ins a0c16248-328d-11e6-b5d1-34059c6d3b88 13_43251862_TTTAAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 13 43251862 TTTAA T 360 PASS - Del - 4 1 POLB child 13_43251862_TTTAAT_POLB 4 4 3 TTA 0 - Microhomology-mediated a0c4c48a-3286-11e6-ba9a-5a79a178171f 14_81142587_TAAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 14 81142587 TAA T 480 PASS CEP128 Del intronic 2 3 FANCC child 14_81142587_TAAT_FANCC 2 2 1 A 0 - Microhomology-mediated a0c52fa2-3285-11e6-be43-0a6ea2c71c31 10_104353334_CCTTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 104353334 CCTT C 780 PASS SUFU Del intronic 3 2 MSH6 child 10_104353334_CCTTC_MSH6 3 3 3 CTT 1 CTT Repeat-mediated a0cdb5ae-3277-11e6-b7b5-ce91a78019ab 5_72103567_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 72103567 AT A 600 PASS - Del - 1 9 NEIL1 child 5_72103567_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated a0d6f97a-3254-11e6-a03d-40f212ae24cf 18_75067628_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 75067628 CT C 300 PASS - Del - 1 7 MSH6 child 18_75067628_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a0db3076-3254-11e6-9f9d-2c7a7872c165 12_72196312_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 72196312 AT A 420 PASS RP11-2H8.2 Del upstream 1 9 MSH6 child 12_72196312_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a0e7ed5c-329a-11e6-bda6-065325c9da85 13_67641911_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 67641911 TG T 480 PASS PCDH9 Del intronic 1 8 MSH6 child 13_67641911_TGT_MSH6 1 1 1 G 7 G Repeat-mediated a0f4f000-3273-11e6-aa3b-ca60a178171f 13_101830027_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 101830027 AT A 480 PASS NALCN Del intronic 1 7 MSH6 child 13_101830027_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a0fab844-3284-11e6-94be-6cfa4430f757 12_55635691_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 55635691 GA G 720 PASS - Del - 1 5 EXO1 child 12_55635691_GAG_EXO1 1 1 1 A 4 A Repeat-mediated a1042bf4-32a2-11e6-b970-398625c9da85 20_17366390_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 17366390 GA G 420 PASS PCSK2 Del intronic 1 5 MSH6 child 20_17366390_GAG_MSH6 1 1 1 A 4 A Repeat-mediated a10f3590-3288-11e6-a21c-b819bce6aa09 X_76045076_TTTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 76045076 T TTA 420 PASS - Ins - 2 4 MSH6 child X_76045076_TTTA_MSH6 2 2 - - - - Ins a11256a0-3290-11e6-9230-fb250e01a414 3_179020402_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 179020402 CA C 900 PASS - Del - 1 5 MSH6 child 3_179020402_CAC_MSH6 1 1 1 A 4 A Repeat-mediated a1127f18-3259-11e6-a39a-dc8512ae24cf 8_133884237_ATGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 133884237 ATG A 300 PASS TG Del intronic 2 5 MSH6 child 8_133884237_ATGA_MSH6 2 2 2 TG 4 TG Repeat-mediated a11504c2-3272-11e6-a862-bc9becf1e924 1_19284505_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 19284505 CT C 420 PASS IFFO2 Del upstream 1 4 MSH6 child 1_19284505_CTC_MSH6 1 1 1 T 3 T Repeat-mediated a1200978-328e-11e6-84a5-b1e2977b3f23 7_3190234_GTG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 7 3190234 GT G 600 PASS - Del - 1 9 NEIL1 child 7_3190234_GTG_NEIL1 1 1 1 T 8 T Repeat-mediated a122f452-329e-11e6-b696-dd6225c9da85 5_99081039_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 99081039 AT A 780 PASS - Del - 1 8 MSH6 child 5_99081039_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a127bfa2-329c-11e6-a5cf-e5abcc638e3d 9_27071709_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 27071709 GA G 540 PASS - Del - 1 9 MSH6 child 9_27071709_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a1314d0c-329b-11e6-a5cf-205325c9da85 11_111985926_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 111985926 CA C 660 PASS - Del - 1 8 MSH6 child 11_111985926_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a13558a0-329d-11e6-bc2c-2a5e25c9da85 4_47717616_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 47717616 CA C 480 PASS CORIN Del intronic 1 9 MSH6 child 4_47717616_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a13651b0-328e-11e6-b8e6-91c36f39e758 11_67054812_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 67054812 A AT 660 PASS ADRBK1 Ins downstream 1 1 MSH6 child 11_67054812_AAT_MSH6 1 1 - - - - Ins a13863c0-328d-11e6-919e-92c36f39e758 2_144650846_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 144650846 CT C 660 PASS - Del - 1 8 MSH6 child 2_144650846_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a139a1d6-329c-11e6-a5cf-e5abcc638e3d 9_27092115_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 27092115 AT A 660 PASS - Del - 1 9 MSH6 child 9_27092115_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a13b4fe6-3273-11e6-90ac-b4c37872c165 8_48874012_GACG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 48874012 GAC G 480 PASS MCM4 Del intronic 2 1 NEIL1 child 8_48874012_GACG_NEIL1 2 2 1 A 0 - Microhomology-mediated a1424b20-3287-11e6-a21c-b819bce6aa09 X_108415736_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 108415736 GA G 480 PASS - Del - 1 5 MSH6 child X_108415736_GAG_MSH6 1 1 1 A 4 A Repeat-mediated a1493a86-328a-11e6-94b1-74090e01a414 17_68065229_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 68065229 GT G 300 PASS LINC01028 Del downstream 1 7 MSH6 child 17_68065229_GTG_MSH6 1 1 1 T 6 T Repeat-mediated a150af9c-3257-11e6-8cd9-139b7872c165 3_6571140_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 6571140 CT C 360 PASS AC069277.2 Del intronic 1 8 MSH6 child 3_6571140_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a1630afa-32a4-11e6-a04f-c66a25c9da85 6_166088793_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 166088793 G GA 840 PASS - Ins - 1 3 MSH6 child 6_166088793_GGA_MSH6 1 1 - - - - Ins a1655b1e-328d-11e6-8c87-38240e01a414 22_19884971_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 19884971 TA T 480 PASS TXNRD2 Del intronic 1 7 MSH6 child 22_19884971_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a1739302-3277-11e6-8b89-96b6ecf1e924 5_88664199_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 5 88664199 CT C 480 PASS - Del - 1 7 CHK2 child 5_88664199_CTC_CHK2 1 1 1 T 6 T Repeat-mediated a17caef2-328f-11e6-9432-c0e56f39e758 5_72146631_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 72146631 CT C 540 PASS TNPO1 Del intronic 1 8 MSH6 child 5_72146631_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a1895760-3258-11e6-8340-da9012ae24cf 6_12288544_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 12288544 TG T 420 PASS EDN1 Del upstream 1 7 MSH6 child 6_12288544_TGT_MSH6 1 1 1 G 6 G Repeat-mediated a190f03c-326d-11e6-9fba-41ebd8b4fa2c 11_40929616_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 40929616 AT A 300 PASS LRRC4C Del intronic 1 8 MSH6 child 11_40929616_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a19c743a-3325-11e6-80f2-a91d98ba1142 21_37800380_ATTTATTA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 21 37800380 ATTTATT A 300 PASS - Del - 6 1 EXO1 child 21_37800380_ATTTATTA_EXO1 6 6 3 TTT 0 - Microhomology-mediated a1a11806-3293-11e6-b10a-17a5e7d0bdd7 1_246063113_CCA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 1 246063113 C CA 780 PASS SMYD3 Ins intronic 1 3 FANCC child 1_246063113_CCA_FANCC 1 1 - - - - Ins a1a745b4-3289-11e6-aa70-b0b3cc638e3d 19_21627520_ATA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 19 21627520 AT A 300 PASS CTD-2561J22.5 Del downstream 1 8 NUDT1 child 19_21627520_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated a1b1ab7a-329e-11e6-bc2c-2a5e25c9da85 4_112584687_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 112584687 CT C 480 PASS - Del - 1 9 MSH6 child 4_112584687_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a1b2f14c-3271-11e6-8bac-883da966024e 16_33480426_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 16 33480426 CT C 528 PASS - Del - 1 5 MSH6 parent 16_33480426_CTC_MSH6 1 1 1 T 4 T Repeat-mediated a1b9d1aa-326d-11e6-b2ac-b6204b47a305 17_61021672_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 61021672 TA T 420 PASS RP11-180P8.1 Del intronic 1 9 MSH6 child 17_61021672_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a1bfe4ee-3288-11e6-b093-c9c7b0dab373 2_101200758_AAAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 101200758 A AAG 540 PASS - Ins - 2 1 MSH6 child 2_101200758_AAAG_MSH6 2 2 - - - - Ins a1c943b6-326c-11e6-92dd-fda8977b3f23 10_16486837_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 16486837 GT G 360 PASS PTER Del intronic 1 8 MSH6 child 10_16486837_GTG_MSH6 1 1 1 T 7 T Repeat-mediated a1cf3670-328c-11e6-8770-3e160e01a414 9_80256947_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 80256947 CA C 300 PASS GNA14 Del intronic 1 9 MSH6 child 9_80256947_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a1cf5d36-3286-11e6-b093-c9c7b0dab373 2_183395899_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 183395899 TA T 660 PASS - Del - 1 9 MSH6 child 2_183395899_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a1d8d09e-329c-11e6-aca6-b39fcc638e3d 2_186311049_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 186311049 CA C 960 PASS - Del - 1 7 MSH6 child 2_186311049_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a1daa986-3289-11e6-a7cf-80090e01a414 15_35357891_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 35357891 TA T 300 PASS - Del - 1 7 MSH6 child 15_35357891_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a1ddb6d8-3321-11e6-bc94-01ed0322d171 16_47978784_CTTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 16 47978784 CTT C 300 PASS - Del - 2 3 EXO1 child 16_47978784_CTTC_EXO1 2 2 1 T 0 - Microhomology-mediated a1e0c392-3258-11e6-aed0-182fee3c4f5d 20_52569953_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 20 52569953 CA C 540 PASS BCAS1 Del intronic 1 8 POLB child 20_52569953_CAC_POLB 1 1 1 A 7 A Repeat-mediated a1f0e662-328c-11e6-aa75-90c36f39e758 13_90821590_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 90821590 CA C 360 PASS - Del - 1 9 MSH6 child 13_90821590_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a1f534ae-3293-11e6-a2c5-65337a852e0e 5_102041370_TCTTTCTCTTCTTATAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 5 102041370 TCTTTCTCTTCTTATA T 480 PASS - Del - 15 1 CHK2 child 5_102041370_TCTTTCTCTTCTTATAT_CHK2 15 >=10 0 - 0 - None a1fd3d6e-3272-11e6-8f33-a6d9cde16804 11_23970565_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 23970565 AT A 300 PASS - Del - 1 9 MSH6 child 11_23970565_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a209cd0a-3276-11e6-998e-ba48fa52e078 8_64584549_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 64584549 CA C 480 PASS - Del - 1 6 MSH6 child 8_64584549_CAC_MSH6 1 1 1 A 5 A Repeat-mediated a20e8b1c-3288-11e6-b9eb-c78fa2c71c31 6_74356115_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 74356115 AT A 660 PASS SLC17A5 Del intronic 1 9 MSH6 child 6_74356115_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a20ed6d6-334a-11e6-8a03-0d6be84777f6 21_46699309_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 21 46699309 CA C 300 PASS POFUT2 Del intronic 1 8 FANCC child 21_46699309_CAC_FANCC 1 1 1 A 7 A Repeat-mediated a2109564-328e-11e6-919e-92c36f39e758 2_209229085_GGTCTTTGGTTTAAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 209229085 GGTCTTTGGTTTAA G 480 PASS - Del - 13 1 MSH6 child 2_209229085_GGTCTTTGGTTTAAG_MSH6 13 >=10 6 GTCTTT 0 - Microhomology-mediated a210e9d4-3251-11e6-8c4a-b6e612ae24cf 16_3779135_GTGCG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 16 3779135 GTGC G 480 PASS CREBBP Del inframe 3 4 POLB child 16_3779135_GTGCG_POLB 3 3 3 TGC 3 TGC Repeat-mediated a2209de6-3325-11e6-bd6e-9bc7cde16804 6_78718179_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 6 78718179 AT A 420 PASS - Del - 1 1 CHK2 child 6_78718179_ATA_CHK2 1 1 0 - 0 T None a220c774-328c-11e6-8256-94c36f39e758 17_55138297_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 55138297 TA T 409 PASS - Del - 1 7 MSH6 child 17_55138297_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a227364c-328a-11e6-ad64-7189a178171f 5_174311240_GTAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 174311240 GTA G 660 PASS - Del - 2 1 FANCC child 5_174311240_GTAG_FANCC 2 2 1 T 0 - Microhomology-mediated a22baf1e-329a-11e6-aca6-b39fcc638e3d 2_58097209_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 58097209 TA T 480 PASS - Del - 1 6 MSH6 child 2_58097209_TAT_MSH6 1 1 1 A 5 A Repeat-mediated a230006c-328d-11e6-b9c4-751d0e01a414 5_90008987_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 90008987 TA T 660 PASS GPR98 Del intronic 1 8 MSH6 child 5_90008987_TAT_MSH6 1 1 1 A 7 A Repeat-mediated a23b0800-329b-11e6-bbf7-b00798ba1142 3_161703809_AAATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 3 161703809 AAAT A 480 PASS - Del - 3 1 CHK2 child 3_161703809_AAATA_CHK2 3 3 1 A 0 - Microhomology-mediated a23c0476-3273-11e6-b923-6726694da5d2 5_126827224_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 126827224 T TA 420 PASS - Ins - 1 5 MSH6 child 5_126827224_TTA_MSH6 1 1 - - - - Ins a2467924-326e-11e6-bfba-13bf4a47a305 9_17473347_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 17473347 CT C 300 PASS CNTLN Del intronic 1 7 MSH6 child 9_17473347_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a249a004-3287-11e6-8064-0e1e987b3f23 6_110604433_TTTATCT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 6 110604433 TTTATC T 540 PASS METTL24 Del intronic 5 1 NEIL1 parent 6_110604433_TTTATCT_NEIL1 5 5 3 TTA 0 - Microhomology-mediated a250dfce-3276-11e6-8c34-46e27872c165 5_83983191_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 83983191 CA C 480 PASS - Del - 1 8 MSH6 child 5_83983191_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a254923c-3270-11e6-b5b8-e0c24a47a305 X_73083035_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 73083035 TA T 300 PASS - Del - 1 7 MSH6 child X_73083035_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a258a4c8-328c-11e6-bec1-ca1d0e01a414 X_22162331_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 22162331 AT A 660 PASS PHEX Del intronic 1 9 MSH6 child X_22162331_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a26055c6-328a-11e6-bb2d-24a320e7b7a8 X_52052629_CAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA X 52052629 CA C 360 PASS - Del - 1 7 POLE child X_52052629_CAC_POLE 1 1 1 A 6 A Repeat-mediated a2624de0-328a-11e6-8459-82090e01a414 12_80573220_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 80573220 CT C 300 PASS - Del - 1 4 MSH6 child 12_80573220_CTC_MSH6 1 1 1 T 3 T Repeat-mediated a262a780-3272-11e6-b8ae-92c57872c165 14_35311417_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 35311417 GA G 480 PASS BAZ1A Del intronic 1 9 MSH6 child 14_35311417_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a26d1e7a-326f-11e6-a539-0e5542c4520d 7_45321662_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 45321662 CT C 300 PASS - Del - 1 8 MSH6 child 7_45321662_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a271c368-3287-11e6-a21c-b819bce6aa09 X_109128450_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 109128450 GA G 360 PASS - Del - 1 7 MSH6 child X_109128450_GAG_MSH6 1 1 1 A 6 A Repeat-mediated a271e692-3271-11e6-b89d-b2d6b0dab373 4_144667178_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 144667178 TA T 720 PASS - Del - 1 4 MSH6 child 4_144667178_TAT_MSH6 1 1 1 A 3 A Repeat-mediated a2745b78-3273-11e6-a685-a844e7d0bdd7 10_70444003_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 10 70444003 AT A 480 PASS TET1 Del intronic 1 8 EXO1 child 10_70444003_ATA_EXO1 1 1 1 T 7 T Repeat-mediated a278826e-3270-11e6-b923-6726694da5d2 5_79823850_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 79823850 CT C 360 PASS FAM151B Del intronic 1 7 MSH6 child 5_79823850_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a285df8e-329f-11e6-bc2c-2a5e25c9da85 4_174782583_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 174782583 CA C 480 PASS - Del - 1 8 MSH6 child 4_174782583_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a2917a08-328e-11e6-b9c4-751d0e01a414 5_162102992_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 162102992 AT A 660 PASS - Del - 1 9 MSH6 child 5_162102992_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a293c93a-3274-11e6-ab69-1c1607e9a829 9_816286_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 816286 TG T 300 PASS - Del - 1 1 MSH6 child 9_816286_TGT_MSH6 1 1 0 - 0 G None a29ca83a-328c-11e6-b805-77090e01a414 2_222568577_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 222568577 GA G 360 PASS - Del - 1 4 MSH6 child 2_222568577_GAG_MSH6 1 1 1 A 3 A Repeat-mediated a2a8a36e-3292-11e6-a366-d0257a852e0e 2_220858228_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 2 220858228 AT A 300 PASS - Del - 1 9 CHK2 child 2_220858228_ATA_CHK2 1 1 1 T 8 T Repeat-mediated a2add448-3287-11e6-97e4-64c735cec73b 21_14635817_TAT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 21 14635817 TA T 454 PASS - Del - 1 9 POLE child 21_14635817_TAT_POLE 1 1 1 A 8 A Repeat-mediated a2bc01f4-3272-11e6-8418-1c5942c4520d 3_46565375_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 46565375 A AT 780 PASS LRRC2 Ins intronic 1 7 MSH6 child 3_46565375_AAT_MSH6 1 1 - - - - Ins a2c2f546-328a-11e6-a80b-87090e01a414 11_83413199_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 83413199 CT C 360 PASS DLG2 Del intronic 1 9 MSH6 child 11_83413199_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a2c5c21e-3274-11e6-8889-c85efc77b11e 4_48501830_TTACTCAAAGTACCACCTGAATTCACTTTCAAAGTACCT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 48501830 TTACTCAAAGTACCACCTGAATTCACTTTCAAAGTACC T 660 PASS FRYL Del intronic 37 1 MSH6 parent 4_48501830_TTACTCAAAGTACCACCTGAATTCACTTTCAAAGTACCT_MSH6 37 >=10 0 - 0 - None a2c9e73a-328e-11e6-ad16-6b56f0f7a29c 10_22296746_TAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 10 22296746 TA T 660 PASS DNAJC1 Del upstream 1 7 NEIL1 child 10_22296746_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated a2cb9d80-3349-11e6-be18-768ca20b69d5 3_47207188_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 47207188 CA C 277 PASS SETD2 Del upstream 1 9 FANCC child 3_47207188_CAC_FANCC 1 1 1 A 8 A Repeat-mediated a2cca92a-327f-11e6-8767-7cd94dc77248 6_11766624_CAC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 6 11766624 CA C 600 PASS ADTRP Del intronic 1 6 NUDT1 child 6_11766624_CAC_NUDT1 1 1 1 A 5 A Repeat-mediated a2d018a8-328e-11e6-9d24-ade56f39e758 7_4943571_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 4943571 CT C 420 PASS MMD2 Del downstream 1 9 MSH6 child 7_4943571_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a2dc93c6-3289-11e6-821d-8c090e01a414 13_40101835_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 40101835 AT A 600 PASS LHFP Del intronic 1 7 MSH6 child 13_40101835_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a2dd9d44-326f-11e6-b77c-ce5aceda8250 11_69967124_AAAGA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 11 69967124 AAAG A 506 PASS ANO1 Del intronic 3 1 POLM child 11_69967124_AAAGA_POLM 3 3 2 AA 0 - Microhomology-mediated a2f287cc-3288-11e6-b686-d35a51c54cdd 4_121622655_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 121622655 TA T 480 PASS PRDM5 Del intronic 1 7 EXO1 child 4_121622655_TAT_EXO1 1 1 1 A 6 A Repeat-mediated a2f50ff8-326d-11e6-9fba-41ebd8b4fa2c 11_41150320_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 41150320 AT A 360 PASS LRRC4C Del intronic 1 7 MSH6 child 11_41150320_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a2f63a1a-3284-11e6-99f7-076ea2c71c31 12_21579048_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 21579048 CT C 540 PASS - Del - 1 8 MSH6 child 12_21579048_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a2fd16d2-3289-11e6-b093-c9c7b0dab373 2_195274747_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 195274747 C CA 480 PASS AC018799.1 Ins intronic 1 8 MSH6 child 2_195274747_CCA_MSH6 1 1 - - - - Ins a2fd6874-3290-11e6-9d97-efe56f39e758 4_136083197_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 136083197 TA T 360 PASS - Del - 1 7 MSH6 child 4_136083197_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a303f6e4-328b-11e6-8952-77c36f39e758 10_7374624_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 7374624 GA G 600 PASS SFMBT2 Del intronic 1 9 MSH6 child 10_7374624_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a30e2596-3287-11e6-bb85-03a66f39e758 4_94314502_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 4 94314502 GA G 480 PASS GRID2 Del intronic 1 8 EXO1 child 4_94314502_GAG_EXO1 1 1 1 A 7 A Repeat-mediated a31468ea-3280-11e6-ab79-75e41da8ec0e 18_6395449_AGA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 18 6395449 AG A 480 PASS L3MBTL4 Del intronic 1 7 EXO1 child 18_6395449_AGA_EXO1 1 1 1 G 6 G Repeat-mediated a325c85a-326d-11e6-b9f4-5d1d694da5d2 14_89306336_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 89306336 TA T 300 PASS TTC8 Del intronic 1 7 MSH6 child 14_89306336_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a3276aa6-3273-11e6-b253-1903630e6611 18_27142732_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 18 27142732 AT A 480 PASS - Del - 1 9 CHK2 child 18_27142732_ATA_CHK2 1 1 1 T 8 T Repeat-mediated a32f4ef8-329e-11e6-b696-dd6225c9da85 5_99876281_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 99876281 AT A 480 PASS FAM174A Del intronic 1 7 MSH6 child 5_99876281_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a3340482-3291-11e6-b77d-2eef6f39e758 6_76619467_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 76619467 GT G 540 PASS MYO6 Del intronic 1 7 MSH6 child 6_76619467_GTG_MSH6 1 1 1 T 6 T Repeat-mediated a337fb0c-328f-11e6-8f31-bfe16f39e758 9_133570019_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 133570019 AT A 660 PASS EXOSC2 Del intronic 1 7 MSH6 child 9_133570019_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a33c80c8-328f-11e6-9230-fb250e01a414 3_115552888_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 115552888 GA G 360 PASS LSAMP Del intronic 1 9 MSH6 child 3_115552888_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a33cd004-328b-11e6-8256-94c36f39e758 17_5643891_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 5643891 CA C 420 PASS - Del - 1 5 MSH6 child 17_5643891_CAC_MSH6 1 1 1 A 4 A Repeat-mediated a33cf3f4-3277-11e6-bb6d-38aec042253c 3_37002096_TGGCGTGTGCCTGTAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 3 37002096 TGGCGTGTGCCTGTA T 900 PASS - Del - 14 1 CHK2 child 3_37002096_TGGCGTGTGCCTGTAT_CHK2 14 >=10 1 G 0 - Microhomology-mediated a34b49f4-3254-11e6-89d3-d29498816cf3 2_121925880_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 121925880 CA C 720 PASS - Del - 1 9 MSH6 child 2_121925880_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a34bc81c-3276-11e6-88aa-2d54a966024e 7_20225114_AAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 20225114 A AT 300 PASS MACC1 Ins intronic 1 7 MSH6 parent 7_20225114_AAT_MSH6 1 1 - - - - Ins a35700f8-328d-11e6-919e-92c36f39e758 2_145423318_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 145423318 CT C 300 PASS TEX41 Del upstream 1 9 MSH6 child 2_145423318_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a359b372-3277-11e6-83cd-a472a178171f 4_183803777_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 183803777 AT A 758 PASS RP11-188P17.2 Del upstream 1 8 MSH6 child 4_183803777_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a35d3872-3276-11e6-a47c-77abeab8d062 5_25245334_TCTCTCAACACT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 25245334 TCTCTCAACAC T 540 PASS RP11-184E9.1 Del intronic 10 1 EXO1 child 5_25245334_TCTCTCAACACT_EXO1 10 >=10 2 CT 0 - Microhomology-mediated a36785ac-326c-11e6-adc2-b7204b47a305 18_2172183_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 2172183 CA C 300 PASS RP11-161I6.2 Del intronic 1 9 MSH6 child 18_2172183_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a3679582-328b-11e6-8952-77c36f39e758 10_7465267_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 7465267 GA G 720 PASS - Del - 1 6 MSH6 child 10_7465267_GAG_MSH6 1 1 1 A 5 A Repeat-mediated a36a6fd0-326f-11e6-a16f-981f1daa6045 19_35646010_TACTCT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 19 35646010 TACTC T 540 PASS FXYD5 Del 5prime_UTR_variant 4 2 NUDT1 child 19_35646010_TACTCT_NUDT1 4 4 4 ACTC 1 ACTC Repeat-mediated a37c61d4-3271-11e6-949c-85d3ed3c4f5d 19_34143186_TCT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 19 34143186 TC T 780 PASS CHST8 Del intronic 1 1 MSH6 parent 19_34143186_TCT_MSH6 1 1 0 - 0 C None a38a265c-328f-11e6-8612-7b73fc77b11e 5_44146209_CTC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 5 44146209 CT C 480 PASS - Del - 1 8 POLE child 5_44146209_CTC_POLE 1 1 1 T 7 T Repeat-mediated a394770e-328c-11e6-9539-3490a178171f 3_59656649_TTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 59656649 T TA 360 PASS - Ins - 1 5 FANCC child 3_59656649_TTA_FANCC 1 1 - - - - Ins a39684e6-3286-11e6-b32c-fd87a2c71c31 5_43141129_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 43141129 GT G 420 PASS ZNF131 Del intronic 1 9 MSH6 child 5_43141129_GTG_MSH6 1 1 1 T 8 T Repeat-mediated a39941ce-3275-11e6-b96a-e20a1ea8ec0e 7_100285750_GAGAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 7 100285750 GAGA G 540 PASS GIGYF1 Del intronic 3 3 FANCC child 7_100285750_GAGAG_FANCC 3 3 3 AGA 2 AGA Repeat-mediated a39c3360-3294-11e6-9107-a556e7d0bdd7 22_46804045_CCTTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 22 46804045 CCTT C 600 PASS CELSR1 Del intronic 3 1 NUDT1 child 22_46804045_CCTTC_NUDT1 3 3 2 CT 0 - Microhomology-mediated a3b46d26-328b-11e6-8770-3e160e01a414 9_213503_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 213503 AT A 600 PASS C9orf66 Del 3prime_UTR_variant 1 6 MSH6 child 9_213503_ATA_MSH6 1 1 1 T 5 T Repeat-mediated a3b6a09c-328a-11e6-b805-77090e01a414 2_89164768_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 89164768 GA G 420 PASS - Del - 1 8 MSH6 child 2_89164768_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a3c05028-3286-11e6-86e9-d4770d016689 X_70652197_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 70652197 AT A 540 PASS TAF1 Del intronic 1 7 EXO1 child X_70652197_ATA_EXO1 1 1 1 T 6 T Repeat-mediated a3c2ae0e-3295-11e6-8016-3bf2d0959d89 21_47573475_CCCAGGGGACGC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 21 47573475 CCCAGGGGACG C 300 PASS FTCD Del intronic 10 1 POLB child 21_47573475_CCCAGGGGACGC_POLB 10 >=10 4 CCAG 0 - Microhomology-mediated a3c71502-3254-11e6-b4d0-327a7872c165 11_72736820_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 72736820 AT A 300 PASS FCHSD2 Del intronic 1 7 MSH6 child 11_72736820_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a3ca7652-3290-11e6-bc00-90df977b3f23 X_143889738_CTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA X 143889738 CT C 600 PASS - Del - 1 9 NEIL1 child X_143889738_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated a3cb7eac-3287-11e6-b7eb-5479a178171f 12_129538671_ACA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 12 129538671 AC A 420 PASS - Del - 1 7 FANCC child 12_129538671_ACA_FANCC 1 1 1 C 6 C Repeat-mediated a3d0c2c6-329c-11e6-ae71-0c5325c9da85 1_160507471_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 160507471 TA T 360 PASS CD84 Del downstream 1 4 MSH6 child 1_160507471_TAT_MSH6 1 1 1 A 3 A Repeat-mediated a3d4ea96-3255-11e6-acd5-c91dee3c4f5d 4_169263340_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 4 169263340 CT C 600 PASS - Del - 1 9 POLB child 4_169263340_CTC_POLB 1 1 1 T 8 T Repeat-mediated a3d554e4-329c-11e6-a5cf-e5abcc638e3d 9_27623267_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 27623267 AC A 540 PASS - Del - 1 5 MSH6 child 9_27623267_ACA_MSH6 1 1 1 C 4 C Repeat-mediated a3d6f960-3289-11e6-a284-4b89a2c71c31 4_86609015_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 86609015 A AT 600 PASS ARHGAP24 Ins intronic 1 1 MSH6 child 4_86609015_AAT_MSH6 1 1 - - - - Ins a3da4040-3273-11e6-b4ee-9405147bb207 10_75350700_TTA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 10 75350700 T TA 420 PASS USP54 Ins intronic 1 3 MSH6 parent 10_75350700_TTA_MSH6 1 1 - - - - Ins a3e78f5e-3285-11e6-b093-c9c7b0dab373 2_96213572_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 96213572 AT A 420 PASS - Del - 1 7 MSH6 child 2_96213572_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a3e8782c-3322-11e6-a5dc-75b8cde16804 1_89207012_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 89207012 TA T 840 PASS PKN2 Del intronic 1 8 EXO1 child 1_89207012_TAT_EXO1 1 1 1 A 7 A Repeat-mediated a3ef81d4-3288-11e6-9317-6ba56f39e758 8_131154245_TGTACCACCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 8 131154245 TGTACCACC T 360 PASS ASAP1 Del intronic 8 1 EXO1 child 8_131154245_TGTACCACCT_EXO1 8 8 2 GT 0 - Microhomology-mediated a3f68c8e-3285-11e6-99f7-076ea2c71c31 12_107405273_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 107405273 TA T 480 PASS CRY1 Del intronic 1 9 MSH6 child 12_107405273_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a3f85d24-328b-11e6-a7cf-80090e01a414 15_89032549_CGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 89032549 CG C 780 PASS - Del - 1 6 MSH6 child 15_89032549_CGC_MSH6 1 1 1 G 5 G Repeat-mediated a40aa956-326e-11e6-9fba-41ebd8b4fa2c 11_75794740_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 75794740 AT A 900 PASS UVRAG Del intronic 1 9 MSH6 child 11_75794740_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a40eb8c6-326d-11e6-bc62-6d4742c4520d 16_75817442_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 75817442 CT C 540 PASS - Del - 1 7 MSH6 child 16_75817442_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a41628be-327b-11e6-8fd7-46dab41afd22 15_35674334_TAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 15 35674334 TA T 480 PASS DPH6 Del intronic 1 9 POLM child 15_35674334_TAT_POLM 1 1 1 A 8 A Repeat-mediated a41663ea-3273-11e6-bea5-e783a20b69d5 13_85861736_AAGA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 85861736 AAG A 420 PASS - Del - 2 2 EXO1 child 13_85861736_AAGA_EXO1 2 2 2 AG 1 AG Repeat-mediated a417c0f6-3321-11e6-b44e-ec3a66a58581 18_51127237_CCT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 18 51127237 C CT 420 PASS RP11-202D1.3 Ins downstream 1 0 CHK2 parent 18_51127237_CCT_CHK2 1 1 - - - - Ins a419e8c6-329b-11e6-aca6-b39fcc638e3d 2_122501801_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 122501801 CT C 360 PASS - Del - 1 8 MSH6 child 2_122501801_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a41ae9ca-326d-11e6-9793-9a8fb0dab373 13_94293428_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 94293428 GA G 600 PASS GPC6 Del intronic 1 9 MSH6 child 13_94293428_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a43ba4ee-329f-11e6-bc66-17b4cc638e3d 8_52074108_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 52074108 GA G 1140 PASS - Del - 1 8 MSH6 child 8_52074108_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a43d289c-328f-11e6-aa67-b667694da5d2 5_28292462_TAT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 5 28292462 TA T 420 PASS CTD-2061E9.1 Del upstream 1 8 POLM child 5_28292462_TAT_POLM 1 1 1 A 7 A Repeat-mediated a441d8de-329d-11e6-91d0-016425c9da85 7_10770661_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 10770661 AT A 540 PASS - Del - 1 8 MSH6 child 7_10770661_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a44201b8-326d-11e6-9003-ae204b47a305 19_47999639_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 47999639 CT C 480 PASS NAPA Del intronic 1 8 MSH6 child 19_47999639_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a446aea0-3274-11e6-8889-c85efc77b11e 4_48772423_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 48772423 AT A 720 PASS FRYL Del intronic 1 7 MSH6 parent 4_48772423_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a4498bba-3284-11e6-870e-6af1bbe6aa09 19_14740628_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 14740628 AT A 360 PASS EMR3 Del intronic 1 9 MSH6 child 19_14740628_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a44b5c74-328e-11e6-b9c4-751d0e01a414 5_162820323_AACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 162820323 AAC A 300 PASS - Del - 2 7 MSH6 child 5_162820323_AACA_MSH6 2 2 2 AC 6 AC Repeat-mediated a4539026-328c-11e6-8770-3e160e01a414 9_81030501_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 81030501 AT A 300 PASS - Del - 1 9 MSH6 child 9_81030501_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a45b1d56-3272-11e6-975f-8246cab49462 16_15560272_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 15560272 CT C 780 PASS C16orf45 Del intronic 1 9 MSH6 child 16_15560272_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a463a4b8-3294-11e6-9280-9ce5d0959d89 11_93134598_GGA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 11 93134598 G GA 480 PASS CCDC67 Ins intronic 1 7 POLB child 11_93134598_GGA_POLB 1 1 - - - - Ins a4681b0a-3259-11e6-8340-da9012ae24cf 6_76922796_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 76922796 GA G 300 PASS - Del - 1 9 MSH6 child 6_76922796_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a469a32e-32a1-11e6-a04f-c66a25c9da85 6_152499177_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 152499177 TA T 660 PASS SYNE1 Del intronic 1 9 MSH6 child 6_152499177_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a46cc76e-3271-11e6-b923-6726694da5d2 5_159549286_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 159549286 CA C 360 PASS PWWP2A Del upstream 1 8 MSH6 child 5_159549286_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a46e2844-3270-11e6-b5b8-e0c24a47a305 X_73767114_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 73767114 CT C 660 PASS - Del - 1 8 MSH6 child X_73767114_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a473695a-328c-11e6-aac2-75bb5d753391 4_169536545_TCAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 169536545 TCA T 1020 PASS PALLD Del intronic 2 1 POLE child 4_169536545_TCAT_POLE 2 2 0 - 0 - None a47fd70e-329f-11e6-a04f-c66a25c9da85 6_25189806_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 25189806 GA G 660 PASS - Del - 1 9 MSH6 child 6_25189806_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a48096c0-3255-11e6-a0fc-e737fa52e078 2_122639031_GTG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 2 122639031 GT G 660 PASS - Del - 1 1 POLM child 2_122639031_GTG_POLM 1 1 0 - 0 T None a4843962-328a-11e6-9c89-8d090e01a414 1_74290348_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 74290348 TG T 300 PASS - Del - 1 5 MSH6 child 1_74290348_TGT_MSH6 1 1 1 G 4 G Repeat-mediated a4843e9e-328f-11e6-bb1e-70e16f39e758 X_103787292_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 103787292 TA T 600 PASS - Del - 1 6 MSH6 child X_103787292_TAT_MSH6 1 1 1 A 5 A Repeat-mediated a48c8fae-3294-11e6-a18f-4ded97ba1142 9_111419754_CATC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 9 111419754 CAT C 600 PASS - Del - 2 1 POLB child 9_111419754_CATC_POLB 2 2 1 A 0 - Microhomology-mediated a493caa6-328c-11e6-919e-92c36f39e758 2_75281141_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 75281141 TA T 420 PASS TACR1 Del intronic 1 9 MSH6 child 2_75281141_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a497b022-3277-11e6-8c34-46e27872c165 5_161099618_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 161099618 CT C 420 PASS - Del - 1 8 MSH6 child 5_161099618_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a498f60a-328e-11e6-8f31-bfe16f39e758 9_69112813_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 69112813 GT G 312 PASS RP11-87H9.3 Del upstream 1 5 MSH6 child 9_69112813_GTG_MSH6 1 1 1 T 4 T Repeat-mediated a49a4c5e-3279-11e6-a05d-037890e2c2e6 12_59693654_ATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 12 59693654 AT A 840 PASS - Del - 1 8 FANCC parent 12_59693654_ATA_FANCC 1 1 1 T 7 T Repeat-mediated a4a34302-3276-11e6-9406-ffa24430f757 3_132964400_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 3 132964400 AT A 360 PASS TMEM108 Del intronic 1 8 POLB child 3_132964400_ATA_POLB 1 1 1 T 7 T Repeat-mediated a4a40920-3287-11e6-8f25-19044530f757 22_38672932_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 22 38672932 AT A 1320 PASS TMEM184B Del upstream 1 9 EXO1 child 22_38672932_ATA_EXO1 1 1 1 T 8 T Repeat-mediated a4a819bc-3290-11e6-9230-fb250e01a414 3_179880758_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 179880758 CT C 540 PASS RNA5SP149 Del upstream 1 5 MSH6 child 3_179880758_CTC_MSH6 1 1 1 T 4 T Repeat-mediated a4aea898-326f-11e6-a0a7-943dc225ee11 1_42646251_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 42646251 AT A 540 PASS FOXJ3 Del intronic 1 9 EXO1 parent 1_42646251_ATA_EXO1 1 1 1 T 8 T Repeat-mediated a4af2da4-3274-11e6-80be-3658a2c71c31 11_94101531_CAC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 11 94101531 CA C 660 PASS - Del - 1 7 NEIL1 child 11_94101531_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated a4b79b30-3272-11e6-9e18-3a69671699ea 10_18961782_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 18961782 TA T 840 PASS ARL5B Del intronic 1 9 MSH6 child 10_18961782_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a4ba56d0-326e-11e6-b306-b5204b47a305 2_180741937_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 180741937 CA C 360 PASS - Del - 1 7 MSH6 child 2_180741937_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a4c65160-3255-11e6-8a2a-3af212ae24cf 16_31636001_AAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 31636001 A AC 480 PASS - Ins - 1 3 MSH6 child 16_31636001_AAC_MSH6 1 1 - - - - Ins a4c74316-3284-11e6-85df-bb936f39e758 14_89568087_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 14 89568087 AT A 480 PASS - Del - 1 9 EXO1 child 14_89568087_ATA_EXO1 1 1 1 T 8 T Repeat-mediated a4c9d120-329e-11e6-bc2c-2a5e25c9da85 4_113583849_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 113583849 CA C 300 PASS - Del - 1 9 MSH6 child 4_113583849_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a4cae98e-329e-11e6-aea7-956725c9da85 3_10903217_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 10903217 CA C 660 PASS SLC6A11 Del intronic 1 8 MSH6 child 3_10903217_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a4d230bc-3290-11e6-b77d-2eef6f39e758 6_14368019_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 14368019 AT A 420 PASS - Del - 1 9 MSH6 child 6_14368019_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a4d545c2-3286-11e6-a5b3-3f1ebce6aa09 7_18115754_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 18115754 CT C 840 PASS - Del - 1 9 MSH6 child 7_18115754_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a4d77892-3295-11e6-a2f7-5503d9b4fa2c 6_722466_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 6 722466 GA G 480 PASS RP11-532F6.4 Del intronic 1 6 NUDT1 child 6_722466_GAG_NUDT1 1 1 1 A 5 A Repeat-mediated a4db0f54-3275-11e6-bfb2-2749c225ee11 12_83426504_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 83426504 A AT 600 PASS TMTC2 Ins intronic 1 8 MSH6 child 12_83426504_AAT_MSH6 1 1 - - - - Ins a4e10ff6-327c-11e6-8d42-cc2c0625f869 10_16846103_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 10 16846103 TA T 600 PASS RSU1 Del intronic 1 8 POLB parent 10_16846103_TAT_POLB 1 1 1 A 7 A Repeat-mediated a4e62dee-3270-11e6-b77c-ce5aceda8250 11_96684492_CTGCTCATG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 11 96684492 CTGCT CATG 720 PASS - Complex - 4 0 POLM child 11_96684492_CTGCTCATG_POLM 1 1 - - - - Complex a4ea7646-326c-11e6-9d68-ac9acab49462 15_21932715_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 21932715 GA G 263 PASS - Del - 1 8 MSH6 child 15_21932715_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a4ed980e-328e-11e6-bec1-ca1d0e01a414 X_113598809_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 113598809 CA C 360 PASS - Del - 1 6 MSH6 child X_113598809_CAC_MSH6 1 1 1 A 5 A Repeat-mediated a4f0c3ce-329a-11e6-b74d-b59fcc638e3d 18_53006983_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 53006983 TA T 660 PASS TCF4 Del intronic 1 8 MSH6 child 18_53006983_TAT_MSH6 1 1 1 A 7 A Repeat-mediated a4f262d4-3276-11e6-a1d0-c9e56de4ab00 4_17562893_GAAAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 4 17562893 GAAA G 420 PASS - Del - 3 8 NEIL1 child 4_17562893_GAAAG_NEIL1 3 3 3 AAA 5 A Repeat-mediated a4f59b2a-3285-11e6-9e78-7d3e51c54cdd 2_121869159_GAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 121869159 GA G 720 PASS - Del - 1 9 EXO1 child 2_121869159_GAG_EXO1 1 1 1 A 8 A Repeat-mediated a5105270-326d-11e6-9d68-ac9acab49462 15_65772466_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 65772466 TA T 300 PASS DPP8 Del intronic 1 9 MSH6 child 15_65772466_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a521fc7e-3280-11e6-a62e-ba6f2aaffa45 10_1729120_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 10 1729120 AT A 600 PASS ADARB2 Del intronic 1 8 POLE child 10_1729120_ATA_POLE 1 1 1 T 7 T Repeat-mediated a5270366-3273-11e6-af88-fed9cde16804 3_102750249_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 3 102750249 AT A 540 PASS - Del - 1 9 NEIL1 child 3_102750249_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated a52a69fc-32a0-11e6-bc66-17b4cc638e3d 8_124152974_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 124152974 AT A 780 PASS TBC1D31 Del intronic 1 9 MSH6 child 8_124152974_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a52c27dc-3274-11e6-946d-9c2bc7271a47 2_141859700_CAGGGATCCAAGCCTCTCCACTCCCAAGTGTGCCTGTATTCTTCACCCTTAGTGGTAGTAGAACCTTATGAATTAGAC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 2 141859700 CAGGGATCCAAGCCTCTCCACTCCCAAGTGTGCCTGTATTCTTCACCCTTAGTGGTAGTAGAACCTTATGAATTAGA C 300 PASS LRP1B Del intronic 76 1 POLB child 2_141859700_CAGGGATCCAAGCCTCTCCACTCCCAAGTGTGCCTGTATTCTTCACCCTTAGTGGTAGTAGAACCTTATGAATTAGAC_POLB 76 >=10 1 A 0 - Microhomology-mediated a531f4b8-3270-11e6-b5b8-e0c24a47a305 X_74079679_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 74079679 TA T 300 PASS KIAA2022 Del intronic 1 5 MSH6 child X_74079679_TAT_MSH6 1 1 1 A 4 A Repeat-mediated a5354d8c-328b-11e6-8770-3e160e01a414 9_450726_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 450726 GA G 300 PASS DOCK8 Del intronic 1 9 MSH6 child 9_450726_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a5365c68-3286-11e6-a21c-b819bce6aa09 X_53179485_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 53179485 GT G 605 PASS LINC01155 Del intronic 1 9 MSH6 child X_53179485_GTG_MSH6 1 1 1 T 8 T Repeat-mediated a53cc962-3291-11e6-9cbe-9277fc77b11e 3_94626202_TAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 3 94626202 TA T 480 PASS - Del - 1 7 POLE child 3_94626202_TAT_POLE 1 1 1 A 6 A Repeat-mediated a546f4d8-326d-11e6-9d68-ac9acab49462 15_65777168_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 65777168 CT C 300 PASS DPP8 Del intronic 1 7 MSH6 child 15_65777168_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a5528806-328c-11e6-b4fe-93c36f39e758 12_65823797_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 65823797 AT A 300 PASS MSRB3 Del intronic 1 9 MSH6 child 12_65823797_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a554deaa-3276-11e6-8c34-46e27872c165 5_84575422_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 84575422 TA T 420 PASS - Del - 1 8 MSH6 child 5_84575422_TAT_MSH6 1 1 1 A 7 A Repeat-mediated a556363c-3286-11e6-afcf-0311bce6aa09 9_101251326_GTCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 101251326 GTC G 720 PASS GABBR2 Del intronic 2 2 MSH6 child 9_101251326_GTCG_MSH6 2 2 2 TC 1 TC Repeat-mediated a55ec00c-326f-11e6-bfba-13bf4a47a305 9_119458561_AAGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 119458561 AAG A 360 PASS ASTN2 Del intronic 2 2 MSH6 child 9_119458561_AAGA_MSH6 2 2 2 AG 1 AG Repeat-mediated a56210e4-3275-11e6-a71d-236235cec73b X_25978372_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 25978372 AT A 720 PASS - Del - 1 7 MSH6 child X_25978372_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a56a32f0-3253-11e6-81f9-42f212ae24cf 17_5819177_GCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 5819177 GC G 720 PASS WSCD1 Del intronic 1 8 MSH6 child 17_5819177_GCG_MSH6 1 1 1 C 7 C Repeat-mediated a56bc43a-328f-11e6-8ac8-88d65d753391 3_116956454_TTG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 3 116956454 T TG 300 PASS LSAMP Ins intronic 1 7 POLE child 3_116956454_TTG_POLE 1 1 - - - - Ins a57abb80-32a2-11e6-bc2c-2a5e25c9da85 4_173678078_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 173678078 G GT 720 PASS GALNTL6 Ins intronic 1 5 MSH6 child 4_173678078_GGT_MSH6 1 1 - - - - Ins a58828f2-32a1-11e6-94ca-0aaecc638e3d X_142568012_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 142568012 C CT 660 PASS - Ins - 1 8 MSH6 child X_142568012_CCT_MSH6 1 1 - - - - Ins a58aa8ae-329f-11e6-91d0-016425c9da85 7_129278754_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 129278754 CT C 840 PASS NRF1 Del intronic 1 6 MSH6 child 7_129278754_CTC_MSH6 1 1 1 T 5 T Repeat-mediated a58c0f86-3273-11e6-a2a4-305390e2c2e6 3_48671053_CTGC . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 48671053 CTG C 660 PASS SLC26A6 Del frameshift 2 3 POLB child 3_48671053_CTGC_POLB 2 2 2 TG 2 TG Repeat-mediated a5940174-3254-11e6-bc65-c9667872c165 13_103018088_ATGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 103018088 ATG A 480 PASS FGF14 Del intronic 2 7 MSH6 child 13_103018088_ATGA_MSH6 2 2 2 TG 6 TG Repeat-mediated a5963576-326c-11e6-9793-9a8fb0dab373 13_25214591_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 25214591 TA T 360 PASS - Del - 1 9 MSH6 child 13_25214591_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a59947d0-3257-11e6-acc5-308412ae24cf 5_87459658_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 87459658 CT C 660 PASS - Del - 1 8 MSH6 child 5_87459658_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a59cd8fc-3287-11e6-9766-8c8ca2c71c31 22_49078612_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 22 49078612 GT G 480 PASS FAM19A5 Del intronic 1 9 MSH6 child 22_49078612_GTG_MSH6 1 1 1 T 8 T Repeat-mediated a59e4be2-326e-11e6-b306-b5204b47a305 2_181029970_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 181029970 CT C 360 PASS - Del - 1 8 MSH6 child 2_181029970_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a5a6393e-3272-11e6-bf33-43b638e8a824 4_71216045_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 4 71216045 CT C 420 PASS - Del - 1 7 NEIL1 child 4_71216045_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated a5abb9f8-328c-11e6-a2c6-303e046f68b1 16_21952562_AAGA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 16 21952562 AAG A 480 PASS - Del - 2 4 POLE child 16_21952562_AAGA_POLE 2 2 2 AG 3 AG Repeat-mediated a5add0ee-3287-11e6-a8ac-a28ea2c71c31 3_4119489_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 4119489 TA T 762 PASS SUMF1 Del intronic 1 9 MSH6 child 3_4119489_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a5bbff26-3290-11e6-ad70-ba257a852e0e 11_88826884_CAC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 11 88826884 CA C 360 PASS - Del - 1 3 CHK2 child 11_88826884_CAC_CHK2 1 1 1 A 2 A Repeat-mediated a5d06ccc-328b-11e6-ac7a-a3c36f39e758 18_8403574_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 8403574 TA T 360 PASS PTPRM Del intronic 1 9 MSH6 child 18_8403574_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a5d7877e-326c-11e6-acc7-e55219a91649 1_24495144_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 24495144 AT A 360 PASS IFNLR1 Del intronic 1 9 MSH6 child 1_24495144_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a5d9946c-329c-11e6-a5cf-e5abcc638e3d 9_28309586_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 28309586 TA T 600 PASS LINGO2 Del intronic 1 9 MSH6 child 9_28309586_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a5dbd228-3291-11e6-b77d-2eef6f39e758 6_77420096_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 77420096 AT A 540 PASS - Del - 1 6 MSH6 child 6_77420096_ATA_MSH6 1 1 1 T 5 T Repeat-mediated a5dc756e-3257-11e6-9d5a-0c8112ae24cf 9_135156296_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 135156296 CT C 540 PASS SETX Del intronic 1 7 MSH6 child 9_135156296_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a5f3fb82-3287-11e6-a284-4b89a2c71c31 4_101362086_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 101362086 CA C 600 PASS EMCN Del intronic 1 9 MSH6 child 4_101362086_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a5f5e23c-328f-11e6-a043-93e7977b3f23 3_6861163_GTG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 3 6861163 GT G 420 PASS - Del - 1 8 NEIL1 child 3_6861163_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated a5f79d08-3284-11e6-873a-cd2d36fc2f7d 8_57685794_TAT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 8 57685794 TA T 540 PASS - Del - 1 1 NUDT1 child 8_57685794_TAT_NUDT1 1 1 0 - 0 A None a5fd0dde-3292-11e6-b77d-2eef6f39e758 6_149727486_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 149727486 TA T 720 PASS TAB2 Del intronic 1 7 MSH6 child 6_149727486_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a603ce50-328b-11e6-919e-92c36f39e758 2_10967996_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 10967996 TA T 300 PASS PDIA6 Del intronic 1 9 MSH6 child 2_10967996_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a608790a-329a-11e6-b74d-b59fcc638e3d 18_53253092_ACTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 53253092 ACT A 540 PASS TCF4 Del 5prime_UTR_variant 2 7 MSH6 child 18_53253092_ACTA_MSH6 2 2 2 CT 6 CT Repeat-mediated a60fbe28-3271-11e6-950d-d529694da5d2 16_54940892_CAC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 16 54940892 CA C 420 PASS - Del - 1 9 CHK2 child 16_54940892_CAC_CHK2 1 1 1 A 8 A Repeat-mediated a611b7be-328f-11e6-bb1e-70e16f39e758 X_104531218_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 104531218 CA C 480 PASS IL1RAPL2 Del intronic 1 8 MSH6 child X_104531218_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a617ddba-326c-11e6-b306-b5204b47a305 2_4950870_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 4950870 TA T 360 PASS - Del - 1 6 MSH6 child 2_4950870_TAT_MSH6 1 1 1 A 5 A Repeat-mediated a6200aaa-328d-11e6-bfa2-581f0e01a414 7_62050606_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 62050606 CT C 300 PASS - Del - 1 5 MSH6 child 7_62050606_CTC_MSH6 1 1 1 T 4 T Repeat-mediated a633dfa2-3275-11e6-a862-bc9becf1e924 1_219786942_TACT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 219786942 TAC T 396 PASS - Del - 2 4 MSH6 child 1_219786942_TACT_MSH6 2 2 2 AC 3 AC Repeat-mediated a6473b2c-3286-11e6-a5b3-3f1ebce6aa09 7_18749143_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 18749143 AT A 720 PASS HDAC9 Del intronic 1 7 MSH6 child 7_18749143_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a64bc87e-3289-11e6-bc2b-e5cd191589db 12_47288883_CTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 12 47288883 CT C 360 PASS - Del - 1 7 FANCC child 12_47288883_CTC_FANCC 1 1 1 T 6 T Repeat-mediated a64fce08-326e-11e6-b306-b5204b47a305 2_181381625_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 181381625 CT C 480 PASS - Del - 1 8 MSH6 child 2_181381625_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a653d3ac-3270-11e6-a16f-981f1daa6045 19_10732113_TTTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 19 10732113 T TTG 420 PASS SLC44A2 Ins upstream 2 0 NUDT1 child 19_10732113_TTTG_NUDT1 2 2 - - - - Ins a663fcd8-3292-11e6-b77d-2eef6f39e758 6_149831878_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 149831878 CA C 660 PASS PPIL4 Del intronic 1 8 MSH6 child 6_149831878_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a666460a-3288-11e6-a21c-b819bce6aa09 X_79397684_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 79397684 A AT 660 PASS - Ins - 1 6 MSH6 child X_79397684_AAT_MSH6 1 1 - - - - Ins a66ea574-328e-11e6-b8e6-91c36f39e758 11_68075723_TTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 68075723 T TG 480 PASS LRP5 Ins upstream 1 7 MSH6 child 11_68075723_TTG_MSH6 1 1 - - - - Ins a66ee978-3287-11e6-a21c-b819bce6aa09 X_112003391_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 112003391 CT C 780 PASS - Del - 1 9 MSH6 child X_112003391_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a677d4a8-326d-11e6-9793-9a8fb0dab373 13_94981283_CGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 94981283 CG C 480 PASS GPC6 Del intronic 1 8 MSH6 child 13_94981283_CGC_MSH6 1 1 1 G 7 G Repeat-mediated a67d92a0-3284-11e6-a0a8-096ea2c71c31 11_25913220_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 25913220 CT C 420 PASS - Del - 1 5 MSH6 child 11_25913220_CTC_MSH6 1 1 1 T 4 T Repeat-mediated a6814f82-3291-11e6-b77d-2eef6f39e758 6_77591149_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 77591149 TA T 480 PASS - Del - 1 5 MSH6 child 6_77591149_TAT_MSH6 1 1 1 A 4 A Repeat-mediated a6898c50-3288-11e6-b9eb-c78fa2c71c31 6_76302898_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 76302898 GA G 780 PASS RNU6-1338P Del downstream 1 9 MSH6 child 6_76302898_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a68e2b2a-3288-11e6-9453-299c20e7b7a8 2_106839382_CAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 2 106839382 CA C 780 PASS - Del - 1 4 POLE child 2_106839382_CAC_POLE 1 1 1 A 3 A Repeat-mediated a6904a4a-3274-11e6-b332-88ba7d6a9fc7 15_90929005_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 90929005 TA T 780 PASS IQGAP1 Del upstream 1 9 MSH6 child 15_90929005_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a6a2269a-3254-11e6-9f9d-2c7a7872c165 12_74647347_CGC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 74647347 CG C 660 PASS RP11-81H3.2 Del intronic 1 5 MSH6 child 12_74647347_CGC_MSH6 1 1 1 G 4 G Repeat-mediated a6a2b502-328f-11e6-ae83-5ae3191589db 6_149065725_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 6 149065725 AT A 360 PASS UST Del upstream 1 7 FANCC child 6_149065725_ATA_FANCC 1 1 1 T 6 T Repeat-mediated a6aa7018-3270-11e6-9309-bdc34a47a305 8_52295258_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 52295258 TA T 300 PASS PXDNL Del intronic 1 9 MSH6 child 8_52295258_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a6b9e396-329c-11e6-ae71-0c5325c9da85 1_160991568_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 160991568 GA G 780 PASS F11R Del upstream 1 8 MSH6 child 1_160991568_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a6be186a-3285-11e6-afd8-be14987b3f23 5_100902918_TAGTTAGCTAGCTCT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 5 100902918 TAGTTAGCTAGCTC T 660 PASS - Del - 13 1 NEIL1 parent 5_100902918_TAGTTAGCTAGCTCT_NEIL1 13 >=10 2 AG 0 - Microhomology-mediated a6c954ee-3291-11e6-b0cf-8b7219a91649 7_70236135_TTTCT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 70236135 TTTC T 360 PASS AUTS2 Del intronic 3 1 NEIL1 child 7_70236135_TTTCT_NEIL1 3 3 2 TT 0 - Microhomology-mediated a6cda104-326c-11e6-b306-b5204b47a305 2_5374166_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 5374166 TA T 300 PASS - Del - 1 8 MSH6 child 2_5374166_TAT_MSH6 1 1 1 A 7 A Repeat-mediated a6cdabda-329f-11e6-9c44-d26625c9da85 21_29740993_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 29740993 C CT 780 PASS - Ins - 1 6 MSH6 child 21_29740993_CCT_MSH6 1 1 - - - - Ins a6d2cbf0-3282-11e6-a31e-d655f7d33ce3 1_194156891_TCT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 1 194156891 TC T 420 PASS RP11-563D10.1 Del intronic 1 1 NUDT1 child 1_194156891_TCT_NUDT1 1 1 0 - 0 C None a6d76cc0-3253-11e6-8ebc-3ef212ae24cf 15_22498149_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 22498149 CA C 387 PASS - Del - 1 7 MSH6 child 15_22498149_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a6d7ba90-328f-11e6-8cd8-07045e753391 2_184951216_CTTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 2 184951216 CTT C 480 PASS - Del - 2 2 POLB child 2_184951216_CTTC_POLB 2 2 0 - 0 - None a6d7dcba-3257-11e6-a7ac-209a7872c165 22_31903723_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 31903723 GA G 717 PASS SFI1 Del intronic 1 7 MSH6 child 22_31903723_GAG_MSH6 1 1 1 A 6 A Repeat-mediated a6de872c-3275-11e6-b582-0da1cc638e3d 4_135285425_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 4 135285425 AT A 660 PASS - Del - 1 9 CHK2 child 4_135285425_ATA_CHK2 1 1 1 T 8 T Repeat-mediated a6e720f2-3280-11e6-9066-1ba854de4fc4 14_47967841_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 14 47967841 GA G 720 PASS MDGA2 Del intronic 1 7 FANCC child 14_47967841_GAG_FANCC 1 1 1 A 6 A Repeat-mediated a6f13036-3273-11e6-88b6-40832aaffa45 1_22730827_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 22730827 CT C 600 PASS - Del - 1 7 EXO1 child 1_22730827_CTC_EXO1 1 1 1 T 6 T Repeat-mediated a6f86eee-3289-11e6-8459-82090e01a414 12_21838598_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 21838598 CA C 420 PASS LDHB Del intronic 1 7 MSH6 child 12_21838598_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a6fbbb42-3290-11e6-b81f-4ee66f39e758 8_61790348_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 61790348 TA T 360 PASS - Del - 1 9 MSH6 child 8_61790348_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a705d45c-329e-11e6-8c2e-3f6625c9da85 22_40033774_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 40033774 AT A 480 PASS CACNA1I Del intronic 1 7 MSH6 child 22_40033774_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a7172080-3295-11e6-8669-5f48a178171f 15_63491850_GGT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 15 63491850 G GT 420 PASS RAB8B Ins intronic 1 7 NEIL1 child 15_63491850_GGT_NEIL1 1 1 - - - - Ins a71ecd04-328f-11e6-9297-a3a9cdacbbbf 10_89237730_CCAA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 10 89237730 C CAA 331 PASS - Ins - 2 0 POLB child 10_89237730_CCAA_POLB 2 2 - - - - Ins a7219d34-3291-11e6-bb4c-05a29b6d3b88 3_99736614_CAC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 3 99736614 CA C 360 PASS FILIP1L Del intronic 1 8 POLB child 3_99736614_CAC_POLB 1 1 1 A 7 A Repeat-mediated a72862b8-3287-11e6-b32c-fd87a2c71c31 5_156558320_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 156558320 TA T 360 PASS - Del - 1 9 MSH6 child 5_156558320_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a72a6b10-3289-11e6-8459-82090e01a414 12_21972622_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 21972622 CT C 540 PASS ABCC9 Del intronic 1 9 MSH6 child 12_21972622_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a72dfbc2-3284-11e6-888b-2d6e0d016689 18_18938918_GGA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 18 18938918 G GA 360 PASS GREB1L Ins upstream 1 1 EXO1 child 18_18938918_GGA_EXO1 1 1 - - - - Ins a72f0320-3278-11e6-b7b5-ce91a78019ab 5_153729297_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 153729297 AT A 780 PASS GALNT10 Del intronic 1 8 NEIL1 child 5_153729297_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated a733eeec-3289-11e6-ba48-afb3cc638e3d 2_41548864_TAGAT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 2 41548864 TAGA T 420 PASS - Del - 3 1 NUDT1 child 2_41548864_TAGAT_NUDT1 3 3 2 AG 0 - Microhomology-mediated a735ba06-327f-11e6-8a95-4ae6b41afd22 X_85068805_ATTA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA X 85068805 ATT A 540 PASS - Del - 2 3 POLM child X_85068805_ATTA_POLM 2 2 1 T 0 - Microhomology-mediated a73607ba-326e-11e6-b306-b5204b47a305 2_181772752_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 181772752 TA T 600 PASS - Del - 1 9 MSH6 child 2_181772752_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a73c6002-3277-11e6-a391-f6d67d6a9fc7 6_14794923_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 14794923 TA T 780 PASS - Del - 1 6 MSH6 child 6_14794923_TAT_MSH6 1 1 1 A 5 A Repeat-mediated a73ddc42-3273-11e6-94cc-1ec335cec73b 19_46972532_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 46972532 AT A 300 PASS PNMAL1 Del intronic 1 6 MSH6 child 19_46972532_ATA_MSH6 1 1 1 T 5 T Repeat-mediated a743de24-327f-11e6-bf44-a4f9eff7a29c 3_35485559_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 3 35485559 GA G 420 PASS - Del - 1 8 POLB parent 3_35485559_GAG_POLB 1 1 1 A 7 A Repeat-mediated a744f1ca-325b-11e6-8340-da9012ae24cf 6_32969044_CCAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 32969044 C CAG 840 PASS HLA-DOA Ins downstream 2 5 MSH6 child 6_32969044_CCAG_MSH6 2 2 - - - - Ins a746cdea-329e-11e6-9c44-d26625c9da85 21_22864067_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 22864067 CA C 660 PASS NCAM2 Del intronic 1 4 MSH6 child 21_22864067_CAC_MSH6 1 1 1 A 3 A Repeat-mediated a751bbe6-328b-11e6-bd84-429305ad5bc4 1_18042911_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 18042911 AG A 420 PASS RP11-473A10.2 Del upstream 1 1 MSH6 child 1_18042911_AGA_MSH6 1 1 0 - 0 G None a751c224-3274-11e6-9e4c-96041ea8ec0e 5_57408847_TAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 5 57408847 TA T 360 PASS CTD-2037L6.2 Del intronic 1 9 FANCC child 5_57408847_TAT_FANCC 1 1 1 A 8 A Repeat-mediated a756e1fe-3289-11e6-a32d-75090e01a414 14_44624481_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 44624481 CA C 660 PASS RP11-305B6.3 Del intronic 1 7 MSH6 child 14_44624481_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a75a5120-326d-11e6-9793-9a8fb0dab373 13_95278149_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 95278149 AT A 540 PASS GPR180 Del intronic 1 7 MSH6 child 13_95278149_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a75bbde6-3257-11e6-885f-d1947872c165 4_108002997_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 108002997 GT G 540 PASS - Del - 1 8 MSH6 child 4_108002997_GTG_MSH6 1 1 1 T 7 T Repeat-mediated a75f396a-329a-11e6-aca6-b39fcc638e3d 2_60050066_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 60050066 TA T 840 PASS RP11-444A22.1 Del intronic 1 9 MSH6 child 2_60050066_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a7623526-328a-11e6-a19d-3c763adbad45 4_185781650_CAC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 185781650 CA C 900 PASS RP11-701P16.5 Del upstream 1 7 NUDT1 parent 4_185781650_CAC_NUDT1 1 1 1 A 6 A Repeat-mediated a762bb96-3289-11e6-9021-40b47098ee92 13_61777853_CAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 13 61777853 CA C 540 PASS MIR3169 Del upstream 1 7 NUDT1 child 13_61777853_CAC_NUDT1 1 1 1 A 6 A Repeat-mediated a765bf40-3256-11e6-8ebc-3ef212ae24cf 15_52685934_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 52685934 C CA 300 PASS MYO5A Ins intronic 1 5 MSH6 child 15_52685934_CCA_MSH6 1 1 - - - - Ins a7680ac4-3284-11e6-83b0-2c6e0d016689 2_100115077_TAAACCGCTAGTAGATAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 100115077 TAAACCGCTAGTAGATA T 300 PASS - Del - 16 1 EXO1 child 2_100115077_TAAACCGCTAGTAGATAT_EXO1 16 >=10 1 A 0 - Microhomology-mediated a76d3548-3271-11e6-b89d-b2d6b0dab373 4_146151764_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 146151764 GA G 420 PASS - Del - 1 8 MSH6 child 4_146151764_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a7722dc8-3276-11e6-a47c-77abeab8d062 5_26593624_GTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 26593624 GT G 480 PASS - Del - 1 8 EXO1 child 5_26593624_GTG_EXO1 1 1 1 T 7 T Repeat-mediated a7751c72-328f-11e6-bb1e-70e16f39e758 X_105259180_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 105259180 GT G 420 PASS - Del - 1 9 MSH6 child X_105259180_GTG_MSH6 1 1 1 T 8 T Repeat-mediated a77a4f70-326d-11e6-9fba-41ebd8b4fa2c 11_42342683_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 42342683 TA T 660 PASS - Del - 1 1 MSH6 child 11_42342683_TAT_MSH6 1 1 0 - 0 A None a78391de-3272-11e6-a814-531398ba1142 X_111313977_GCG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA X 111313977 GC G 660 PASS TRPC5 Del intronic 1 9 EXO1 parent X_111313977_GCG_EXO1 1 1 1 C 8 C Repeat-mediated a78952a0-3285-11e6-9efa-64528e4678dd 6_100387257_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 6 100387257 CA C 720 PASS MCHR2 Del intronic 1 6 EXO1 child 6_100387257_CAC_EXO1 1 1 1 A 5 A Repeat-mediated a78ce5d8-3289-11e6-b805-77090e01a414 2_29910400_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 29910400 TA T 360 PASS ALK Del intronic 1 9 MSH6 child 2_29910400_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a7944108-326f-11e6-9068-b49eeab8d062 14_72783482_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 14 72783482 AT A 420 PASS RGS6 Del intronic 1 8 NUDT1 child 14_72783482_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated a79993d4-326e-11e6-9fba-41ebd8b4fa2c 11_76520544_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 76520544 CA C 377 PASS - Del - 1 9 MSH6 child 11_76520544_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a79a0914-3281-11e6-b9fb-4420bce6aa09 9_100520809_CAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 9 100520809 CA C 360 PASS - Del - 1 6 POLM child 9_100520809_CAC_POLM 1 1 1 A 5 A Repeat-mediated a79e69dc-32a4-11e6-a04f-c66a25c9da85 6_168188952_TTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 168188952 T TG 720 PASS - Ins - 1 7 MSH6 child 6_168188952_TTG_MSH6 1 1 - - - - Ins a7a8133e-3285-11e6-9881-48b254de4fc4 5_173712664_AACTCCTCTT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 5 173712664 A ACTCCTCTT 420 PASS - Ins - 8 0 FANCC child 5_173712664_AACTCCTCTT_FANCC 8 8 - - - - Ins a7b07e10-3272-11e6-9309-bdc34a47a305 8_61034012_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 61034012 C CA 600 PASS - Ins - 1 6 MSH6 child 8_61034012_CCA_MSH6 1 1 - - - - Ins a7b5a0cc-328e-11e6-b21e-ac230625f869 13_42796253_CAGTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 13 42796253 CAGT C 300 PASS DGKH Del intronic 3 3 NEIL1 child 13_42796253_CAGTC_NEIL1 3 3 3 AGT 2 AGT Repeat-mediated a7b8b576-3321-11e6-9802-cf66694da5d2 12_8643385_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 12 8643385 CA C 480 PASS - Del - 1 8 EXO1 child 12_8643385_CAC_EXO1 1 1 1 A 7 A Repeat-mediated a7bde64c-32a2-11e6-bc66-17b4cc638e3d 8_85183400_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 85183400 T TA 600 PASS RALYL Ins intronic 1 9 MSH6 child 8_85183400_TTA_MSH6 1 1 - - - - Ins a7c0f274-3324-11e6-922f-5f0e75253f64 4_125164397_AGA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 4 125164397 AG A 540 PASS CTD-2325B11.1 Del intronic 1 1 POLE child 4_125164397_AGA_POLE 1 1 0 - 0 G None a7cf0302-325a-11e6-8b28-55ad7872c165 20_2430509_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 2430509 TA T 660 PASS - Del - 1 8 MSH6 child 20_2430509_TAT_MSH6 1 1 1 A 7 A Repeat-mediated a7d0d7ba-3276-11e6-9e0f-7959cab49462 7_78289599_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 78289599 TA T 780 PASS MAGI2 Del intronic 1 9 MSH6 child 7_78289599_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a7d9e640-3297-11e6-9baf-ebf997ba1142 14_24469441_TTTTTA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 14 24469441 T TTTTA 361 PASS DHRS4L2 Ins intronic 4 0 CHK2 child 14_24469441_TTTTTA_CHK2 4 4 - - - - Ins a7eb7b7c-3287-11e6-8d3f-2a9c20e7b7a8 18_21750411_CTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 18 21750411 CT C 480 PASS OSBPL1A Del frameshift 1 5 POLE child 18_21750411_CTC_POLE 1 1 1 T 4 T Repeat-mediated a7f59816-3276-11e6-a2b7-2d8b671699ea 21_17240969_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 17240969 GT G 780 PASS USP25 Del intronic 1 5 MSH6 child 21_17240969_GTG_MSH6 1 1 1 T 4 T Repeat-mediated a8128946-3328-11e6-8b1e-ddf006e9a829 20_35606673_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 20 35606673 AT A 480 PASS - Del - 1 8 POLE child 20_35606673_ATA_POLE 1 1 1 T 7 T Repeat-mediated a81ff2ac-3279-11e6-a862-bc9becf1e924 1_239593629_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 239593629 A AT 420 PASS - Ins - 1 6 MSH6 child 1_239593629_AAT_MSH6 1 1 - - - - Ins a82072bc-3298-11e6-8de1-2d9afaf1a024 7_16248060_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 16248060 TA T 660 PASS ISPD Del intronic 1 8 CHK2 child 7_16248060_TAT_CHK2 1 1 1 A 7 A Repeat-mediated a821bc50-3278-11e6-a391-f6d67d6a9fc7 6_77872187_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 77872187 CT C 420 PASS - Del - 1 7 MSH6 child 6_77872187_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a82803b8-3349-11e6-a9cc-a0a270cce0de 2_64746354_TGAGGTTTGAA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 64746354 TGAGGT TTGAA 780 PASS RP11-568N6.1 Complex downstream 5 0 FANCC child 2_64746354_TGAGGTTTGAA_FANCC 1 1 - - - - Complex a82d1282-328a-11e6-8459-82090e01a414 12_82208947_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 82208947 CA C 360 PASS - Del - 1 6 MSH6 child 12_82208947_CAC_MSH6 1 1 1 A 5 A Repeat-mediated a836aef0-328a-11e6-9c12-b6c430158702 2_33309227_TAT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 2 33309227 TA T 300 PASS LTBP1 Del intronic 1 8 POLM child 2_33309227_TAT_POLM 1 1 1 A 7 A Repeat-mediated a8389fba-329b-11e6-aca6-b39fcc638e3d 2_123653986_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 123653986 TA T 540 PASS - Del - 1 7 MSH6 child 2_123653986_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a83df73a-3273-11e6-8f33-a6d9cde16804 11_115460963_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 115460963 CA C 360 PASS RP11-136I14.5 Del intronic 1 7 MSH6 child 11_115460963_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a8466b9a-326e-11e6-b306-b5204b47a305 2_182037037_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 182037037 GA G 420 PASS AC104820.2 Del intronic 1 8 MSH6 child 2_182037037_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a847ac5e-3290-11e6-b77d-2eef6f39e758 6_15136747_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 15136747 CA C 600 PASS - Del - 1 9 MSH6 child 6_15136747_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a848e748-328d-11e6-919e-92c36f39e758 2_147319452_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 147319452 GT G 600 PASS - Del - 1 8 MSH6 child 2_147319452_GTG_MSH6 1 1 1 T 7 T Repeat-mediated a8518eca-3274-11e6-972b-b65bfc77b11e 1_107800809_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 107800809 AT A 300 PASS NTNG1 Del intronic 1 9 CHK2 child 1_107800809_ATA_CHK2 1 1 1 T 8 T Repeat-mediated a855125e-3326-11e6-8d31-31bce7d0bdd7 1_205528921_AAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 1 205528921 A AG 360 PASS - Ins - 1 1 EXO1 child 1_205528921_AAG_EXO1 1 1 - - - - Ins a856a792-3270-11e6-8418-1c5942c4520d 3_62822230_CGTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 62822230 CGT C 300 PASS CADPS Del intronic 2 6 MSH6 child 3_62822230_CGTC_MSH6 2 2 2 GT 5 GT Repeat-mediated a8592588-328b-11e6-8952-77c36f39e758 10_8484154_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 8484154 CT C 420 PASS RP11-543F8.2 Del intronic 1 8 MSH6 child 10_8484154_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a85e5134-328b-11e6-8256-94c36f39e758 17_6605443_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 6605443 CT C 540 PASS SLC13A5 Del intronic 1 3 MSH6 child 17_6605443_CTC_MSH6 1 1 1 T 2 T Repeat-mediated a85f60ee-3324-11e6-925b-cca72aaffa45 X_129631333_CTC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA X 129631333 CT C 387 PASS RP1-274L7.1 Del intronic 1 8 CHK2 child X_129631333_CTC_CHK2 1 1 1 T 7 T Repeat-mediated a86bc7aa-329b-11e6-ae71-0c5325c9da85 1_96882227_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 96882227 GA G 540 PASS - Del - 1 8 MSH6 child 1_96882227_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a86bcfa8-3277-11e6-92d2-c259c225ee11 3_99253538_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 99253538 GA G 360 PASS - Del - 1 8 MSH6 child 3_99253538_GAG_MSH6 1 1 1 A 7 A Repeat-mediated a8740e58-326c-11e6-b306-b5204b47a305 2_6043034_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 6043034 CT C 300 PASS - Del - 1 6 MSH6 child 2_6043034_CTC_MSH6 1 1 1 T 5 T Repeat-mediated a87f499e-3285-11e6-b093-c9c7b0dab373 2_98396521_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 98396521 CA C 480 PASS TMEM131 Del intronic 1 9 MSH6 child 2_98396521_CAC_MSH6 1 1 1 A 8 A Repeat-mediated a8820ac6-327b-11e6-a391-f6d67d6a9fc7 6_109723247_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 109723247 G GA 480 PASS PPIL6 Ins intronic 1 1 MSH6 child 6_109723247_GGA_MSH6 1 1 - - - - Ins a88262be-3271-11e6-a7ca-da712aaffa45 17_63725097_TAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 17 63725097 TA T 360 PASS CEP112 Del intronic 1 9 CHK2 child 17_63725097_TAT_CHK2 1 1 1 A 8 A Repeat-mediated a882a7ec-3280-11e6-a57a-16fc028949d4 11_80498626_TAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 11 80498626 TA T 540 PASS - Del - 1 7 POLM child 11_80498626_TAT_POLM 1 1 1 A 6 A Repeat-mediated a888a172-325a-11e6-8b28-55ad7872c165 20_2620946_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 2620946 CT C 600 PASS TMC2 Del intronic 1 9 MSH6 child 20_2620946_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a8990a16-328d-11e6-919e-92c36f39e758 2_147425007_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 147425007 GA G 480 PASS - Del - 1 7 MSH6 child 2_147425007_GAG_MSH6 1 1 1 A 6 A Repeat-mediated a89b0914-3270-11e6-b09c-a7fe7146d362 10_6483174_TAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 10 6483174 TA T 480 PASS PRKCQ Del intronic 1 9 CHK2 child 10_6483174_TAT_CHK2 1 1 1 A 8 A Repeat-mediated a8a08b0e-328a-11e6-8eee-76090e01a414 10_91421598_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 91421598 TA T 600 PASS - Del - 1 8 MSH6 child 10_91421598_TAT_MSH6 1 1 1 A 7 A Repeat-mediated a8a434fa-329b-11e6-aca6-b39fcc638e3d 2_123822462_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 123822462 AT A 780 PASS AC062020.2 Del upstream 1 6 MSH6 child 2_123822462_ATA_MSH6 1 1 1 T 5 T Repeat-mediated a8b21404-3290-11e6-b837-bf257a852e0e 13_108887947_CATTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 13 108887947 CATT C 300 PASS ABHD13 Del downstream 3 2 CHK2 child 13_108887947_CATTC_CHK2 3 3 3 ATT 1 ATT Repeat-mediated a8b83de2-334a-11e6-840b-09aab0dab373 1_72511883_CCA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 1 72511883 C CA 540 PASS NEGR1 Ins intronic 1 6 FANCC child 1_72511883_CCA_FANCC 1 1 - - - - Ins a8bc16cc-328e-11e6-847e-1aa5e7d0bdd7 13_107073277_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 13 107073277 CA C 360 PASS - Del - 1 3 FANCC child 13_107073277_CAC_FANCC 1 1 1 A 2 A Repeat-mediated a8bc8754-3272-11e6-aa3b-ca60a178171f 13_36526905_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 36526905 AT A 540 PASS DCLK1 Del intronic 1 8 MSH6 child 13_36526905_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a8cb0c04-32a2-11e6-b970-398625c9da85 20_19066195_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 19066195 TA T 660 PASS - Del - 1 7 MSH6 child 20_19066195_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a8cc6702-3275-11e6-8889-c85efc77b11e 4_122297133_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 122297133 TA T 420 PASS QRFPR Del intronic 1 5 MSH6 parent 4_122297133_TAT_MSH6 1 1 1 A 4 A Repeat-mediated a8d92bea-3284-11e6-b996-7c3e51c54cdd 14_61736626_TCT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 14 61736626 TC T 780 PASS PRKCH Del intronic 1 1 EXO1 child 14_61736626_TCT_EXO1 1 1 0 - 0 C None a8dd815c-3254-11e6-89d3-d29498816cf3 2_124227189_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 124227189 TG T 900 PASS - Del - 1 1 MSH6 child 2_124227189_TGT_MSH6 1 1 0 - 0 G None a8dfc824-3284-11e6-a722-38d09b6d3b88 3_58302977_TTGT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 58302977 TTG T 600 PASS RPP14 Del intronic 2 3 EXO1 child 3_58302977_TTGT_EXO1 2 2 2 TG 2 TG Repeat-mediated a8e4eddc-3323-11e6-8c6b-3c0f42c4520d 4_37388912_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 4 37388912 AT A 300 PASS KIAA1239 Del intronic 1 8 EXO1 child 4_37388912_ATA_EXO1 1 1 1 T 7 T Repeat-mediated a8e55d9e-3288-11e6-b686-d35a51c54cdd 4_123893821_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 123893821 AT A 720 PASS SPATA5 Del intronic 1 8 EXO1 child 4_123893821_ATA_EXO1 1 1 1 T 7 T Repeat-mediated a8e7ab78-3290-11e6-b8c3-19a5e7d0bdd7 12_107312034_TTAA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 12 107312034 T TAA 360 PASS - Ins - 2 1 FANCC child 12_107312034_TTAA_FANCC 2 2 - - - - Ins a8f4e076-326e-11e6-bfba-13bf4a47a305 9_19301933_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 19301933 CA C 300 PASS DENND4C Del intronic 1 8 MSH6 child 9_19301933_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a8f7ed54-3276-11e6-9e0f-7959cab49462 7_78574976_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 78574976 AT A 420 PASS MAGI2 Del intronic 1 9 MSH6 child 7_78574976_ATA_MSH6 1 1 1 T 8 T Repeat-mediated a8f81de2-326c-11e6-9f48-94df41c4520d 12_9309466_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 9309466 CT C 480 PASS PZP Del intronic 1 7 MSH6 child 12_9309466_CTC_MSH6 1 1 1 T 6 T Repeat-mediated a902b7da-3275-11e6-a924-afbd7d6a9fc7 2_195041133_CGCCGGCCGGCCCTGCCGGTCCCAGGCAGTGAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 195041133 CGCCGGCCGGCCCTGCCGGTCCCAGGCAGTGA C 420 PASS - Del - 31 1 EXO1 child 2_195041133_CGCCGGCCGGCCCTGCCGGTCCCAGGCAGTGAC_EXO1 31 >=10 1 G 0 - Microhomology-mediated a90ad38c-3286-11e6-a5b3-3f1ebce6aa09 7_20028817_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 20028817 GT G 480 PASS - Del - 1 7 MSH6 child 7_20028817_GTG_MSH6 1 1 1 T 6 T Repeat-mediated a919fe7a-329f-11e6-aca6-b39fcc638e3d 2_129242144_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 129242144 C CT 300 PASS - Ins - 1 9 MSH6 child 2_129242144_CCT_MSH6 1 1 - - - - Ins a91d16f0-3277-11e6-92d2-c259c225ee11 3_99592464_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 99592464 GT G 420 PASS FILIP1L Del intronic 1 8 MSH6 child 3_99592464_GTG_MSH6 1 1 1 T 7 T Repeat-mediated a91d6b68-326e-11e6-be21-a41225c9da85 12_6881191_CAC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 12 6881191 CA C 780 PASS LAG3 Del upstream 1 1 POLM child 12_6881191_CAC_POLM 1 1 0 - 0 A None a930cf9e-327f-11e6-9a18-69cfaa716c52 4_139901240_ATA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 4 139901240 AT A 780 PASS - Del - 1 6 POLB parent 4_139901240_ATA_POLB 1 1 1 T 5 T Repeat-mediated a9367a0a-328b-11e6-9892-02ba5d753391 5_112759974_CAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 5 112759974 CA C 600 PASS MCC Del intronic 1 8 POLE child 5_112759974_CAC_POLE 1 1 1 A 7 A Repeat-mediated a93d6ef0-3286-11e6-a21c-b819bce6aa09 X_54538531_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 54538531 TA T 420 PASS - Del - 1 5 MSH6 child X_54538531_TAT_MSH6 1 1 1 A 4 A Repeat-mediated a93ed14c-3271-11e6-81c8-19f506e9a829 2_57058056_CGTTTAAAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 57058056 CGTTTAAA C 360 PASS - Del - 7 1 FANCC child 2_57058056_CGTTTAAAC_FANCC 7 7 5 GTTTA 0 - Microhomology-mediated a946ba52-3270-11e6-aee1-fd97191589db 3_73566693_TAT . HAP1_POLM_21 HAP1_parental_75_WT_DNA 3 73566693 TA T 720 PASS PDZRN3 Del intronic 1 4 POLM parent 3_73566693_TAT_POLM 1 1 1 A 3 A Repeat-mediated a953d20a-3257-11e6-acc5-308412ae24cf 5_88704194_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 88704194 TA T 480 PASS - Del - 1 9 MSH6 child 5_88704194_TAT_MSH6 1 1 1 A 8 A Repeat-mediated a9560bb6-326f-11e6-a202-899bcc638e3d 16_47367119_CAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 16 47367119 CA C 480 PASS ITFG1 Del intronic 1 5 NEIL1 child 16_47367119_CAC_NEIL1 1 1 1 A 4 A Repeat-mediated a9586a88-329b-11e6-bda6-065325c9da85 13_33263784_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 33263784 T TA 660 PASS PDS5B Ins intronic 1 1 MSH6 child 13_33263784_TTA_MSH6 1 1 - - - - Ins a95f10f0-3281-11e6-9fe5-cc8f38e8a824 19_34622764_TAGTAGTACT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 19 34622764 TAGTAGTAC T 446 PASS - Del - 8 1 POLE parent 19_34622764_TAGTAGTACT_POLE 8 8 1 A 0 - Microhomology-mediated a9613192-3294-11e6-a264-365aead19ece 9_100213524_ATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 9 100213524 AT A 360 PASS TDRD7 Del intronic 1 7 NUDT1 child 9_100213524_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated a9671bf6-329a-11e6-b549-1e5325c9da85 10_52395453_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 52395453 GC G 540 PASS - Del - 1 3 MSH6 child 10_52395453_GCG_MSH6 1 1 1 C 2 C Repeat-mediated a96be5b4-3286-11e6-b1ba-6def1da8ec0e 1_224947806_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 224947806 CT C 780 PASS - Del - 1 9 EXO1 child 1_224947806_CTC_EXO1 1 1 1 T 8 T Repeat-mediated a9707e24-3256-11e6-a39a-dc8512ae24cf 8_1321276_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 1321276 TG T 360 PASS AF067845.1 Del upstream 1 7 MSH6 child 8_1321276_TGT_MSH6 1 1 1 G 6 G Repeat-mediated a971da78-3286-11e6-afcf-0311bce6aa09 9_103145072_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 103145072 GA G 840 PASS - Del - 1 9 MSH6 child 9_103145072_GAG_MSH6 1 1 1 A 8 A Repeat-mediated a972d924-326c-11e6-b306-b5204b47a305 2_6506437_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 6506437 CT C 300 PASS AC105253.1 Del intronic 1 9 MSH6 child 2_6506437_CTC_MSH6 1 1 1 T 8 T Repeat-mediated a9787874-329a-11e6-8069-175325c9da85 12_50054755_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 50054755 CA C 960 PASS FMNL3 Del intronic 1 7 MSH6 child 12_50054755_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a979f216-3287-11e6-afcf-0311bce6aa09 9_75146176_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 75146176 G GT 960 PASS TMC1 Ins intronic 1 5 MSH6 child 9_75146176_GGT_MSH6 1 1 - - - - Ins a97afeb8-3273-11e6-a5d0-4fd14a47a305 2_110333988_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 110333988 AT A 300 PASS SEPT10 Del intronic 1 8 MSH6 child 2_110333988_ATA_MSH6 1 1 1 T 7 T Repeat-mediated a98182ea-3275-11e6-8c34-46e27872c165 5_21074045_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 21074045 CA C 600 PASS - Del - 1 7 MSH6 child 5_21074045_CAC_MSH6 1 1 1 A 6 A Repeat-mediated a990d5cc-3286-11e6-a5b3-3f1ebce6aa09 7_20328757_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 20328757 TA T 720 PASS - Del - 1 7 MSH6 child 7_20328757_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a9a15476-3257-11e6-91d3-a68412ae24cf 7_86292929_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 86292929 CT C 600 PASS GRM3 Del intronic 1 8 MSH6 child 7_86292929_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a9a5b526-3279-11e6-92c7-b3b42aaffa45 20_4904171_TAGGT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 20 4904171 TAGG T 600 PASS SLC23A2 Del intronic 3 1 EXO1 child 20_4904171_TAGGT_EXO1 3 3 2 AG 0 - Microhomology-mediated a9a6262a-3281-11e6-b415-f403987b3f23 18_4736558_TAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 18 4736558 TA T 420 PASS - Del - 1 9 NEIL1 parent 18_4736558_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated a9ab0e0e-32a1-11e6-a04f-c66a25c9da85 6_153839136_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 153839136 AT A 301 PASS - Del - 1 7 MSH6 child 6_153839136_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a9b0c1de-328b-11e6-ad89-6ebfcc638e3d X_5404938_TAT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA X 5404938 TA T 360 PASS - Del - 1 7 NUDT1 child X_5404938_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated a9b25ac0-3287-11e6-956d-004290e2c2e6 X_124817313_CAC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA X 124817313 CA C 480 PASS - Del - 1 8 POLE child X_124817313_CAC_POLE 1 1 1 A 7 A Repeat-mediated a9b4864e-3294-11e6-b25c-c77219a91649 8_109971772_GGA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 8 109971772 G GA 420 PASS - Ins - 1 5 NEIL1 child 8_109971772_GGA_NEIL1 1 1 - - - - Ins a9b5b778-326f-11e6-b89d-b2d6b0dab373 4_11162308_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 11162308 GA G 480 PASS - Del - 1 7 MSH6 child 4_11162308_GAG_MSH6 1 1 1 A 6 A Repeat-mediated a9b680c0-328a-11e6-aff5-85090e01a414 16_75083209_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 75083209 CT C 420 PASS ZNRF1 Del intronic 1 8 MSH6 child 16_75083209_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a9b7fe0a-329e-11e6-91d0-016425c9da85 7_71131363_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 71131363 AT A 420 PASS WBSCR17 Del intronic 1 7 MSH6 child 7_71131363_ATA_MSH6 1 1 1 T 6 T Repeat-mediated a9bffd2c-3275-11e6-9e25-e58e2aaffa45 4_16330879_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 16330879 GA G 300 PASS - Del - 1 7 EXO1 child 4_16330879_GAG_EXO1 1 1 1 A 6 A Repeat-mediated a9c8f778-328a-11e6-9c89-8d090e01a414 1_75955393_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 75955393 TA T 480 PASS SLC44A5 Del intronic 1 7 MSH6 child 1_75955393_TAT_MSH6 1 1 1 A 6 A Repeat-mediated a9c8fb6a-326c-11e6-adc2-b7204b47a305 18_3479892_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 3479892 CT C 540 PASS RP11-838N2.4 Del downstream 1 8 MSH6 child 18_3479892_CTC_MSH6 1 1 1 T 7 T Repeat-mediated a9cb703c-329b-11e6-b549-1e5325c9da85 10_108041874_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 108041874 CA C 600 PASS - Del - 1 8 MSH6 child 10_108041874_CAC_MSH6 1 1 1 A 7 A Repeat-mediated a9d26c3e-32a0-11e6-a04f-c66a25c9da85 6_89175819_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 89175819 TA T 480 PASS - Del - 1 1 MSH6 child 6_89175819_TAT_MSH6 1 1 0 - 0 A None a9d72b6c-3281-11e6-9f9b-29bd9b6d3b88 11_92819257_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 92819257 AT A 420 PASS - Del - 1 9 EXO1 child 11_92819257_ATA_EXO1 1 1 1 T 8 T Repeat-mediated a9e000a6-32a0-11e6-a04f-c66a25c9da85 6_89203992_CTAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 89203992 CTA C 540 PASS - Del - 2 5 MSH6 child 6_89203992_CTAC_MSH6 2 2 2 TA 4 TA Repeat-mediated a9f40ad2-329c-11e6-a5cf-205325c9da85 11_38340616_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 38340616 T TA 960 PASS - Ins - 1 6 MSH6 child 11_38340616_TTA_MSH6 1 1 - - - - Ins a9fe6854-329e-11e6-bc2c-2a5e25c9da85 4_115281512_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 115281512 TG T 540 PASS - Del - 1 7 MSH6 child 4_115281512_TGT_MSH6 1 1 1 G 6 G Repeat-mediated a9ff49b8-3276-11e6-8c64-8432c7271a47 3_172159801_GTG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 3 172159801 GT G 300 PASS GHSR Del downstream 1 8 MSH6 parent 3_172159801_GTG_MSH6 1 1 1 T 7 T Repeat-mediated a9ffeb12-3270-11e6-a539-0e5542c4520d 7_123178124_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 123178124 CA C 480 PASS NDUFA5 Del 3prime_UTR_variant 1 9 MSH6 child 7_123178124_CAC_MSH6 1 1 1 A 8 A Repeat-mediated aa045072-328d-11e6-b9c4-751d0e01a414 5_92797212_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 92797212 TA T 420 PASS - Del - 1 9 MSH6 child 5_92797212_TAT_MSH6 1 1 1 A 8 A Repeat-mediated aa0a7478-3276-11e6-998e-ba48fa52e078 8_67674268_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 67674268 CT C 540 PASS SGK3 Del intronic 1 9 MSH6 child 8_67674268_CTC_MSH6 1 1 1 T 8 T Repeat-mediated aa0ec046-327b-11e6-a391-f6d67d6a9fc7 6_110043813_TTTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 110043813 T TTA 420 PASS FIG4 Ins intronic 2 7 MSH6 child 6_110043813_TTTA_MSH6 2 2 - - - - Ins aa11f4a2-326f-11e6-a539-0e5542c4520d 7_48455334_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 48455334 GA G 600 PASS ABCA13 Del intronic 1 9 MSH6 child 7_48455334_GAG_MSH6 1 1 1 A 8 A Repeat-mediated aa154f42-328f-11e6-bb1e-70e16f39e758 X_106227166_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 106227166 AT A 1020 PASS MORC4 Del intronic 1 8 MSH6 child X_106227166_ATA_MSH6 1 1 1 T 7 T Repeat-mediated aa186ccc-3271-11e6-b4c7-c8d4ed3c4f5d 10_16809601_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 10 16809601 AT A 420 PASS RSU1 Del intronic 1 9 NEIL1 child 10_16809601_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated aa1e5da2-3295-11e6-800c-01f9d8b4fa2c 5_93389623_GCG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 5 93389623 GC G 360 PASS FAM172A Del intronic 1 5 NUDT1 child 5_93389623_GCG_NUDT1 1 1 1 C 4 C Repeat-mediated aa21e980-326e-11e6-b306-b5204b47a305 2_182888535_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 182888535 AT A 300 PASS PPP1R1C Del intronic 1 9 MSH6 child 2_182888535_ATA_MSH6 1 1 1 T 8 T Repeat-mediated aa2fe7fc-3290-11e6-9401-04ed6f39e758 3_47530926_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 47530926 CT C 540 PASS - Del - 1 8 MSH6 child 3_47530926_CTC_MSH6 1 1 1 T 7 T Repeat-mediated aa328bbc-328e-11e6-b9c4-751d0e01a414 5_164601558_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 164601558 TC T 300 PASS - Del - 1 1 MSH6 child 5_164601558_TCT_MSH6 1 1 0 - 0 C None aa3481f8-328c-11e6-bb43-9c5c694da5d2 14_35056823_AAAACA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 14 35056823 AAAAC A 480 PASS SNX6 Del intronic 4 4 POLM child 14_35056823_AAAACA_POLM 4 4 4 AAAC 3 AAAC Repeat-mediated aa358554-328b-11e6-8590-58cc977b3f23 14_41965609_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 14 41965609 TA T 480 PASS - Del - 1 9 NEIL1 child 14_41965609_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated aa3660b4-3254-11e6-bc65-c9667872c165 13_104614227_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 104614227 CT C 300 PASS - Del - 1 9 MSH6 child 13_104614227_CTC_MSH6 1 1 1 T 8 T Repeat-mediated aa4161f8-3272-11e6-a862-bc9becf1e924 1_21310655_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 21310655 AT A 300 PASS EIF4G3 Del intronic 1 9 MSH6 child 1_21310655_ATA_MSH6 1 1 1 T 8 T Repeat-mediated aa576328-3320-11e6-a903-ae0342c4520d 13_22279376_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 13 22279376 CT C 300 PASS FGF9 Del downstream 1 3 EXO1 child 13_22279376_CTC_EXO1 1 1 1 T 2 T Repeat-mediated aa5fe3ce-3283-11e6-9ece-78393dc9300a 11_43654494_GGA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 11 43654494 G GA 480 PASS - Ins - 1 7 NEIL1 parent 11_43654494_GGA_NEIL1 1 1 - - - - Ins aa6584c8-326f-11e6-9309-bdc34a47a305 8_35675441_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 35675441 CT C 300 PASS - Del - 1 7 MSH6 child 8_35675441_CTC_MSH6 1 1 1 T 6 T Repeat-mediated aa710996-3289-11e6-85a7-f8cd191589db 13_65720618_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 13 65720618 AT A 360 PASS - Del - 1 9 FANCC child 13_65720618_ATA_FANCC 1 1 1 T 8 T Repeat-mediated aa735466-328f-11e6-9230-fb250e01a414 3_117133405_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 117133405 AC A 600 PASS LSAMP Del intronic 1 8 MSH6 child 3_117133405_ACA_MSH6 1 1 1 C 7 C Repeat-mediated aa75e56c-3273-11e6-9b10-3e7da20b69d5 15_102131431_CTC . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 15 102131431 CT C 300 PASS - Del - 1 9 NUDT1 child 15_102131431_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated aa8025dc-328b-11e6-b90a-464ed5dcf142 5_64752360_ATTTGA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 5 64752360 ATTTG A 420 PASS ADAMTS6 Del intronic 4 3 NUDT1 child 5_64752360_ATTTGA_NUDT1 4 4 4 TTTG 2 TTTG Repeat-mediated aa82af22-3273-11e6-bfb2-2749c225ee11 12_89389876_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 89389876 GA G 300 PASS - Del - 1 7 MSH6 child 12_89389876_GAG_MSH6 1 1 1 A 6 A Repeat-mediated aa83c8e8-3274-11e6-b7b8-aca7ecf1e924 12_70639991_CTC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 12 70639991 CT C 300 PASS CNOT2 Del intronic 1 8 NEIL1 child 12_70639991_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated aa871246-3288-11e6-993a-93e95d753391 12_85521587_GTG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 12 85521587 GT G 600 PASS LRRIQ1 Del intronic 1 9 POLE child 12_85521587_GTG_POLE 1 1 1 T 8 T Repeat-mediated aa8b10a2-328e-11e6-9d41-3ba5e7d0bdd7 11_84812088_TATGAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 11 84812088 TATGA T 540 PASS DLG2 Del intronic 4 1 FANCC child 11_84812088_TATGAT_FANCC 4 4 3 ATG 0 - Microhomology-mediated aa8dcc20-3257-11e6-a304-347a7872c165 1_22618975_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 22618975 C CT 480 PASS - Ins - 1 8 MSH6 child 1_22618975_CCT_MSH6 1 1 - - - - Ins aaafe382-328e-11e6-9337-20a5e7d0bdd7 14_97961783_CTGACATC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 14 97961783 CTGACAT C 540 PASS CTD-2506J14.1 Del intronic 6 1 FANCC child 14_97961783_CTGACATC_FANCC 6 6 2 TG 0 - Microhomology-mediated aab6be20-326e-11e6-acc7-e55219a91649 1_188944987_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 188944987 CA C 480 PASS - Del - 1 2 MSH6 child 1_188944987_CAC_MSH6 1 1 1 A 1 A Repeat-mediated aab6cf1a-3272-11e6-8f33-a6d9cde16804 11_26538611_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 26538611 GT G 600 PASS ANO3 Del intronic 1 9 MSH6 child 11_26538611_GTG_MSH6 1 1 1 T 8 T Repeat-mediated aab93cfc-3270-11e6-881e-8d938a20d9eb 15_20598230_TCT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 15 20598230 TC T 300 PASS - Del - 1 1 CHK2 child 15_20598230_TCT_CHK2 1 1 0 - 0 C None aac3c5a2-334a-11e6-a997-309d38e8a824 4_171214501_GTAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 171214501 GTA G 360 PASS - Del - 2 6 FANCC child 4_171214501_GTAG_FANCC 2 2 2 TA 5 TA Repeat-mediated aac50900-3285-11e6-8e86-a8fc137bb207 8_59248427_CAAC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 8 59248427 CAA C 360 PASS - Del - 2 3 FANCC child 8_59248427_CAAC_FANCC 2 2 1 A 0 - Microhomology-mediated aac8b85c-3253-11e6-a4a7-35f212ae24cf 14_26143191_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 26143191 TA T 480 PASS - Del - 1 8 MSH6 child 14_26143191_TAT_MSH6 1 1 1 A 7 A Repeat-mediated aaca4778-329c-11e6-a0ea-135325c9da85 15_21944082_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 21944082 C CA 252 PASS RP11-32B5.7 Ins intronic 1 5 MSH6 child 15_21944082_CCA_MSH6 1 1 - - - - Ins aad32298-328e-11e6-b6a6-1f1e0e01a414 4_138345796_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 138345796 AT A 300 PASS - Del - 1 8 MSH6 child 4_138345796_ATA_MSH6 1 1 1 T 7 T Repeat-mediated aadb8322-32a0-11e6-a04f-c66a25c9da85 6_89564893_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 89564893 CA C 540 PASS RNGTT Del intronic 1 8 MSH6 child 6_89564893_CAC_MSH6 1 1 1 A 7 A Repeat-mediated aadce39a-326c-11e6-9fba-41ebd8b4fa2c 11_6124444_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 6124444 AT A 300 PASS OR56B4 Del upstream 1 5 MSH6 child 11_6124444_ATA_MSH6 1 1 1 T 4 T Repeat-mediated aae3dfe2-3271-11e6-923c-a6d5ed3c4f5d 4_7060766_TGGAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 4 7060766 TGGA T 480 PASS GRPEL1 Del 3prime_UTR_variant 3 2 POLB child 4_7060766_TGGAT_POLB 3 3 3 GGA 1 GGA Repeat-mediated aaf9693e-3285-11e6-b093-c9c7b0dab373 2_99305491_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 99305491 TA T 420 PASS MGAT4A Del intronic 1 8 MSH6 child 2_99305491_TAT_MSH6 1 1 1 A 7 A Repeat-mediated aafee4fe-328f-11e6-b4fe-93c36f39e758 12_115652367_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 115652367 A AT 420 PASS - Ins - 1 7 MSH6 child 12_115652367_AAT_MSH6 1 1 - - - - Ins ab01ac7c-326f-11e6-8f14-87641565c797 19_53256964_CTC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 19 53256964 CT C 720 PASS - Del - 1 6 POLM child 19_53256964_CTC_POLM 1 1 1 T 5 T Repeat-mediated ab054ac6-3283-11e6-8f58-97e3d4957ca3 20_34884197_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 20 34884197 CT C 660 PASS - Del - 1 7 NEIL1 child 20_34884197_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated ab07e7b2-3289-11e6-9c89-8d090e01a414 1_21819973_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 21819973 GA G 480 PASS - Del - 1 7 MSH6 child 1_21819973_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ab10fea4-3286-11e6-9162-c3af90e2c2e6 2_221879367_CTC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 2 221879367 CT C 480 PASS - Del - 1 8 POLE child 2_221879367_CTC_POLE 1 1 1 T 7 T Repeat-mediated ab1de3f2-3287-11e6-a21c-b819bce6aa09 X_113671448_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 113671448 GT G 660 PASS - Del - 1 9 MSH6 child X_113671448_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ab249328-326e-11e6-9fba-41ebd8b4fa2c 11_76807857_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 76807857 CA C 1260 PASS CAPN5 Del intronic 1 8 MSH6 child 11_76807857_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ab2528b2-3253-11e6-9f9d-2c7a7872c165 12_9283321_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 9283321 AT A 540 PASS - Del - 1 9 MSH6 child 12_9283321_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ab315640-3286-11e6-afcf-0311bce6aa09 9_104220186_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 104220186 AT A 420 PASS - Del - 1 8 MSH6 child 9_104220186_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ab3a6044-328d-11e6-a278-48230e01a414 21_19263056_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 19263056 TA T 360 PASS - Del - 1 9 MSH6 child 21_19263056_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ab40bb62-3277-11e6-805e-161f630e6611 7_86963600_AAGA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 7 86963600 AAG A 420 PASS TP53TG1 Del intronic 2 2 CHK2 child 7_86963600_AAGA_CHK2 2 2 2 AG 1 AG Repeat-mediated ab4cb4be-3289-11e6-b805-77090e01a414 2_31098159_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 31098159 CT C 900 PASS - Del - 1 9 MSH6 child 2_31098159_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ab4d3a92-3324-11e6-819a-262af46126f1 X_114785983_CAGC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA X 114785983 CAG C 420 PASS - Del - 2 2 POLE child X_114785983_CAGC_POLE 2 2 2 AG 1 AG Repeat-mediated ab4ec100-3289-11e6-a80b-87090e01a414 11_24367437_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 24367437 GA G 420 PASS - Del - 1 8 MSH6 child 11_24367437_GAG_MSH6 1 1 1 A 7 A Repeat-mediated ab505708-3258-11e6-acc5-308412ae24cf 5_167411664_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 167411664 GA G 420 PASS TENM2 Del intronic 1 9 MSH6 child 5_167411664_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ab512972-3275-11e6-a71d-236235cec73b X_28235357_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 28235357 AT A 720 PASS - Del - 1 9 MSH6 child X_28235357_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ab60e42a-328e-11e6-8621-65d8191589db 4_187346898_TGT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 187346898 TG T 360 PASS - Del - 1 6 FANCC child 4_187346898_TGT_FANCC 1 1 1 G 5 G Repeat-mediated ab6baadc-3292-11e6-ba8c-277819a91649 6_65557628_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 6 65557628 CT C 360 PASS EYS Del intronic 1 7 NEIL1 child 6_65557628_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated ab726e0c-3275-11e6-a71d-236235cec73b X_28253899_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 28253899 TA T 300 PASS - Del - 1 9 MSH6 child X_28253899_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ab7f2056-3276-11e6-ae53-82ab977b3f23 3_109009992_GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGATATTTTTTTTAATGGAGCAGTAAAGCAAAAATAGTCCTATTAGATACTAAAATTAATTATTGTTATTATTATTATTTTGAGACAGAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCGTTCTCGGCTCACCGCAACCTCCGCGTCCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACGACGTTGGTCGGGCTGCTCTTGAACTCCTGACCTGAAGTGATCCACCCACCTCAG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 3 109009992 GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGATATTTTTTTTAATGGAGCAGTAAAGCAAAAATAGTCCTATTAGATACTAAAATTAATTATTGTTATTATTATTATTTTGAGACAGAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCGTTCTCGGCTCACCGCAACCTCCGCGTCCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACGACGTTGGTCGGGCTGCTCTTGAACTCCTGACCTGAAGTGATCCACCCACCTCA G 268 PASS DPPA2 Del downstream 364 1 NUDT1 child 3_109009992_GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGATATTTTTTTTAATGGAGCAGTAAAGCAAAAATAGTCCTATTAGATACTAAAATTAATTATTGTTATTATTATTATTTTGAGACAGAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCGTTCTCGGCTCACCGCAACCTCCGCGTCCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACGACGTTGGTCGGGCTGCTCTTGAACTCCTGACCTGAAGTGATCCACCCACCTCAG_NUDT1 364 >=10 27 GCCTCCCAAAGTGCTGGGATTACAGGC 0 - Microhomology-mediated ab7f6aea-3274-11e6-aa3b-ca60a178171f 13_77899617_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 77899617 C CA 300 PASS MYCBP2 Ins intronic 1 7 MSH6 child 13_77899617_CCA_MSH6 1 1 - - - - Ins ab8212f2-3294-11e6-94ac-06337a852e0e 4_176410748_CATGATACTGGTACCAAAACAGATC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 4 176410748 CATGATACTGGTACCAAAACAGAT C 360 PASS - Del - 23 1 CHK2 child 4_176410748_CATGATACTGGTACCAAAACAGATC_CHK2 23 >=10 2 AT 0 - Microhomology-mediated ab89e328-329a-11e6-a5cf-205325c9da85 11_49365199_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 49365199 CA C 580 PASS - Del - 1 6 MSH6 child 11_49365199_CAC_MSH6 1 1 1 A 5 A Repeat-mediated ab9c76d6-328c-11e6-b6a6-1f1e0e01a414 4_14099076_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 14099076 CT C 360 PASS - Del - 1 5 MSH6 child 4_14099076_CTC_MSH6 1 1 1 T 4 T Repeat-mediated ab9ff280-3286-11e6-b930-8f14987b3f23 4_171100158_ATGTATA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 4 171100158 ATGTAT A 600 PASS - Del - 5 1 NEIL1 parent 4_171100158_ATGTATA_NEIL1 5 5 0 - 0 - None abb4dede-3277-11e6-92d2-c259c225ee11 3_100173906_ACA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 100173906 AC A 660 PASS LNP1 Del intronic 1 7 MSH6 child 3_100173906_ACA_MSH6 1 1 1 C 6 C Repeat-mediated abba93b4-3278-11e6-9972-dabcecf1e924 3_100391857_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 3 100391857 AT A 900 PASS GPR128 Del intronic 1 8 NEIL1 child 3_100391857_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated abbc96a8-329d-11e6-b696-dd6225c9da85 5_36997002_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 36997002 AT A 780 PASS NIPBL Del intronic 1 9 MSH6 child 5_36997002_ATA_MSH6 1 1 1 T 8 T Repeat-mediated abc3fbe6-3289-11e6-940d-53a538e8a824 2_203038689_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 203038689 CT C 480 PASS - Del - 1 9 NUDT1 parent 2_203038689_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated abc6107e-3253-11e6-81f9-42f212ae24cf 17_7162084_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 7162084 TG T 300 PASS ELP5 Del frameshift 1 5 MSH6 child 17_7162084_TGT_MSH6 1 1 1 G 4 G Repeat-mediated abd1c4e0-3286-11e6-b093-c9c7b0dab373 2_187057059_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 187057059 AT A 780 PASS - Del - 1 7 MSH6 child 2_187057059_ATA_MSH6 1 1 1 T 6 T Repeat-mediated abd88184-328d-11e6-b6a6-1f1e0e01a414 4_74265711_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 74265711 TA T 600 PASS ALB Del upstream 1 7 MSH6 child 4_74265711_TAT_MSH6 1 1 1 A 6 A Repeat-mediated abe1d2f2-328d-11e6-ae53-96c36f39e758 15_90339727_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 90339727 CT C 420 PASS ANPEP Del intronic 1 9 MSH6 child 15_90339727_CTC_MSH6 1 1 1 T 8 T Repeat-mediated abe6edc4-3278-11e6-92d2-c259c225ee11 3_172329722_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 172329722 TA T 720 PASS - Del - 1 5 MSH6 child 3_172329722_TAT_MSH6 1 1 1 A 4 A Repeat-mediated abe7bca4-329b-11e6-a5cf-205325c9da85 11_115180024_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 115180024 AG A 540 PASS CADM1 Del intronic 1 1 MSH6 child 11_115180024_AGA_MSH6 1 1 0 - 0 G None abf55b74-326f-11e6-b923-6726694da5d2 5_15020873_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 15020873 TA T 300 PASS - Del - 1 7 MSH6 child 5_15020873_TAT_MSH6 1 1 1 A 6 A Repeat-mediated abf765a6-3290-11e6-9d97-efe56f39e758 4_138242612_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 138242612 AT A 600 PASS - Del - 1 9 MSH6 child 4_138242612_ATA_MSH6 1 1 1 T 8 T Repeat-mediated abfc9b86-327a-11e6-b10f-b842a20b69d5 9_22557342_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 9 22557342 CA C 540 PASS - Del - 1 7 FANCC parent 9_22557342_CAC_FANCC 1 1 1 A 6 A Repeat-mediated ac023bb0-325a-11e6-8340-da9012ae24cf 6_152998042_AGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 152998042 AG A 600 PASS - Del - 1 5 MSH6 child 6_152998042_AGA_MSH6 1 1 1 G 4 G Repeat-mediated ac06b418-329d-11e6-ae71-0c5325c9da85 1_222170760_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 222170760 CA C 780 PASS - Del - 1 9 MSH6 child 1_222170760_CAC_MSH6 1 1 1 A 8 A Repeat-mediated ac06df36-328b-11e6-8106-81c36f39e758 19_8140231_CGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 8140231 CG C 360 PASS FBN3 Del frameshift 1 4 MSH6 child 19_8140231_CGC_MSH6 1 1 1 G 3 G Repeat-mediated ac148074-3253-11e6-bc65-c9667872c165 13_28403478_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 28403478 AT A 300 PASS RNU6-73P Del downstream 1 9 MSH6 child 13_28403478_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ac271080-3286-11e6-8404-8e1fbce6aa09 8_15317712_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 15317712 CT C 420 PASS - Del - 1 5 MSH6 child 8_15317712_CTC_MSH6 1 1 1 T 4 T Repeat-mediated ac282c66-3288-11e6-b3c1-495b51c54cdd 8_58992172_CAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 8 58992172 CA C 300 PASS FAM110B Del intronic 1 9 EXO1 child 8_58992172_CAC_EXO1 1 1 1 A 8 A Repeat-mediated ac3a18aa-3287-11e6-a284-4b89a2c71c31 4_103851877_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 103851877 TA T 420 PASS SLC9B1 Del intronic 1 8 MSH6 child 4_103851877_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ac3e668e-3274-11e6-88b6-40832aaffa45 1_105527330_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 105527330 AT A 720 PASS - Del - 1 7 EXO1 child 1_105527330_ATA_EXO1 1 1 1 T 6 T Repeat-mediated ac3ef610-3285-11e6-8b67-086ea2c71c31 1_108573091_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 108573091 TA T 420 PASS - Del - 1 8 MSH6 child 1_108573091_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ac48afe0-3292-11e6-b77d-2eef6f39e758 6_150558341_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 150558341 CT C 780 PASS PPP1R14C Del intronic 1 9 MSH6 child 6_150558341_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ac573518-3276-11e6-92d2-c259c225ee11 3_26304345_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 26304345 AT A 1020 PASS - Del - 1 8 MSH6 child 3_26304345_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ac5cf08e-328a-11e6-927f-cebe38e8a824 7_45136154_TACT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 7 45136154 TAC T 420 PASS TBRG4 Del downstream 2 5 NUDT1 parent 7_45136154_TACT_NUDT1 2 2 2 AC 4 AC Repeat-mediated ac5ea10e-326c-11e6-acc7-e55219a91649 1_26186662_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 26186662 AT A 360 PASS PAQR7 Del downstream 1 9 MSH6 child 1_26186662_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ac5edd9c-3292-11e6-8cd8-07045e753391 2_136712866_AAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 2 136712866 A AT 360 PASS DARS Ins intronic 1 5 POLB child 2_136712866_AAT_POLB 1 1 - - - - Ins ac5f33b2-329e-11e6-b696-dd6225c9da85 5_103036964_AAGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 103036964 AAG A 660 PASS - Del - 2 7 MSH6 child 5_103036964_AAGA_MSH6 2 2 2 AG 6 AG Repeat-mediated ac684740-3253-11e6-a4a7-35f212ae24cf 14_26773370_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 26773370 CA C 360 PASS - Del - 1 8 MSH6 child 14_26773370_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ac6e67ac-3289-11e6-85b3-df4bcf376b51 15_63868592_CTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 15 63868592 CT C 540 PASS USP3 Del intronic 1 6 NUDT1 child 15_63868592_CTC_NUDT1 1 1 1 T 5 T Repeat-mediated ac7535de-328c-11e6-8256-94c36f39e758 17_57208609_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 57208609 AT A 480 PASS SKA2 Del intronic 1 8 MSH6 child 17_57208609_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ac7b3b02-3258-11e6-a39a-dc8512ae24cf 8_60278428_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 60278428 AT A 780 PASS - Del - 1 9 MSH6 child 8_60278428_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ac7ce67a-3256-11e6-9d5a-0c8112ae24cf 9_72884512_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 72884512 CA C 600 PASS SMC5 Del intronic 1 7 MSH6 child 9_72884512_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ac808d9c-3275-11e6-88aa-2d54a966024e 7_118502425_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 118502425 AT A 420 PASS - Del - 1 7 MSH6 parent 7_118502425_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ac83e77e-329a-11e6-a0ea-135325c9da85 15_60285642_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 60285642 AG A 600 PASS - Del - 1 6 MSH6 child 15_60285642_AGA_MSH6 1 1 1 G 5 G Repeat-mediated ac888f8e-3283-11e6-b857-6115038949d4 5_94505565_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 5 94505565 AT A 350 PASS MCTP1 Del intronic 1 7 POLM child 5_94505565_ATA_POLM 1 1 1 T 6 T Repeat-mediated ac8cb8ce-327f-11e6-a6bc-51fe684da5d2 15_81862773_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 15 81862773 CT C 480 PASS CTD-2034I4.1 Del intronic 1 9 NEIL1 child 15_81862773_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated ac97552c-3284-11e6-9607-56b01ac527ab 4_79827406_GTAAAAGTGTAGAGGTTTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 79827406 GTAAAAGTGTAGAG GTTTA 720 PASS BMP2K Complex intronic 13 0 FANCC child 4_79827406_GTAAAAGTGTAGAGGTTTA_FANCC 9 9 - - - - Complex ac98373c-329b-11e6-aca6-b39fcc638e3d 2_124932607_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 124932607 AT A 540 PASS CNTNAP5 Del intronic 1 8 MSH6 child 2_124932607_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ac9b0d18-326e-11e6-b306-b5204b47a305 2_183577292_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 183577292 CT C 300 PASS DNAJC10 Del upstream 1 9 MSH6 child 2_183577292_CTC_MSH6 1 1 1 T 8 T Repeat-mediated acb32d28-326c-11e6-b2ac-b6204b47a305 17_3444512_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 3444512 AT A 300 PASS TRPV3 Del intronic 1 2 MSH6 child 17_3444512_ATA_MSH6 1 1 1 T 1 T Repeat-mediated acc6f3fa-3274-11e6-8c58-fa31b51afd22 8_41980249_GTG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 8 41980249 GT G 900 PASS - Del - 1 9 FANCC child 8_41980249_GTG_FANCC 1 1 1 T 8 T Repeat-mediated acd4ce84-328e-11e6-9432-c0e56f39e758 5_8574309_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 8574309 TG T 420 PASS - Del - 1 8 MSH6 child 5_8574309_TGT_MSH6 1 1 1 G 7 G Repeat-mediated acd55344-326c-11e6-9d68-ac9acab49462 15_22390750_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 22390750 AT A 300 PASS - Del - 1 6 MSH6 child 15_22390750_ATA_MSH6 1 1 1 T 5 T Repeat-mediated acdf49ce-3291-11e6-9458-5f42ead19ece 2_9761462_AATACCGTTCTA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 2 9761462 AATACCGTTCT A 600 PASS YWHAQ Del intronic 10 1 NUDT1 child 2_9761462_AATACCGTTCTA_NUDT1 10 >=10 4 ATAC 0 - Microhomology-mediated ace20996-328e-11e6-bec1-ca1d0e01a414 X_115466095_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 115466095 TA T 420 PASS - Del - 1 7 MSH6 child X_115466095_TAT_MSH6 1 1 1 A 6 A Repeat-mediated aced2e00-3290-11e6-a400-33b64430f757 22_47973548_GAG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 22 47973548 GA G 480 PASS - Del - 1 4 POLE child 22_47973548_GAG_POLE 1 1 1 A 3 A Repeat-mediated acf397e0-3272-11e6-b439-e34b3cfdbd24 2_118793160_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 118793160 AT A 300 PASS - Del - 1 5 MSH6 parent 2_118793160_ATA_MSH6 1 1 1 T 4 T Repeat-mediated acf62fbe-3281-11e6-b735-71393dc9300a 10_7965680_CAC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 10 7965680 CA C 480 PASS TAF3 Del intronic 1 9 NEIL1 parent 10_7965680_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated acf8240e-3254-11e6-8f56-7d832aaffa45 13_47297332_CTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 13 47297332 CT C 420 PASS LRCH1 Del intronic 1 7 POLM child 13_47297332_CTC_POLM 1 1 1 T 6 T Repeat-mediated acfe3902-326d-11e6-9f48-94df41c4520d 12_84982920_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 84982920 GA G 720 PASS - Del - 1 9 MSH6 child 12_84982920_GAG_MSH6 1 1 1 A 8 A Repeat-mediated acffb110-3321-11e6-923f-078b3cfdbd24 18_73252843_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 18 73252843 TA T 660 PASS - Del - 1 1 EXO1 child 18_73252843_TAT_EXO1 1 1 0 - 0 A None ad05e574-3292-11e6-9401-04ed6f39e758 3_190142398_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 190142398 GA G 540 PASS TMEM207 Del downstream 1 9 MSH6 child 3_190142398_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ad08c446-3270-11e6-b923-6726694da5d2 5_82742343_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 82742343 GA G 360 PASS - Del - 1 9 MSH6 child 5_82742343_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ad0f77fe-328f-11e6-94e1-63e1191589db 3_163915933_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 163915933 CA C 300 PASS - Del - 1 9 FANCC child 3_163915933_CAC_FANCC 1 1 1 A 8 A Repeat-mediated ad1031fc-3290-11e6-92cf-bf2a0e01a414 6_119466630_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 119466630 GA G 600 PASS FAM184A Del intronic 1 7 MSH6 child 6_119466630_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ad260750-334b-11e6-9f94-b3873cfdbd24 6_63347192_CTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 6 63347192 CT C 360 PASS - Del - 1 8 FANCC child 6_63347192_CTC_FANCC 1 1 1 T 7 T Repeat-mediated ad26caa6-3255-11e6-bc65-c9667872c165 13_80682773_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 80682773 T TA 420 PASS - Ins - 1 6 MSH6 child 13_80682773_TTA_MSH6 1 1 - - - - Ins ad31d20c-3287-11e6-baf1-58044530f757 3_26094581_TTTCACACTGTTCCTCTCCCTTCCTCATTTTCCTCTAGAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 3 26094581 TTTCACACTGTTCCTCTCCCTTCCTCATTTTCCTCTAGA T 480 PASS - Del - 38 1 EXO1 child 3_26094581_TTTCACACTGTTCCTCTCCCTTCCTCATTTTCCTCTAGAT_EXO1 38 >=10 0 - 0 - None ad33d9f2-326f-11e6-a539-0e5542c4520d 7_49499206_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 49499206 CA C 300 PASS - Del - 1 8 MSH6 child 7_49499206_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ad39fc76-3272-11e6-a7fb-3a9cecf1e924 22_33600785_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 22 33600785 AT A 360 PASS - Del - 1 8 NEIL1 child 22_33600785_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated ad555dfe-3272-11e6-83ef-69fb06e9a829 18_20182756_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 20182756 GA G 540 PASS - Del - 1 4 MSH6 child 18_20182756_GAG_MSH6 1 1 1 A 3 A Repeat-mediated ad565542-326d-11e6-9f48-94df41c4520d 12_85036614_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 85036614 CT C 360 PASS - Del - 1 7 MSH6 child 12_85036614_CTC_MSH6 1 1 1 T 6 T Repeat-mediated ad60559c-3277-11e6-81cf-37408a20d9eb 8_47976256_TGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 47976256 TG T 300 PASS - Del - 1 9 EXO1 child 8_47976256_TGT_EXO1 1 1 1 G 8 G Repeat-mediated ad644820-328e-11e6-bd84-429305ad5bc4 1_104559620_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 104559620 G GT 659 PASS - Ins - 1 6 MSH6 child 1_104559620_GGT_MSH6 1 1 - - - - Ins ad6c2916-3255-11e6-b4d0-327a7872c165 11_6935498_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 6935498 A AT 480 PASS - Ins - 1 7 MSH6 child 11_6935498_AAT_MSH6 1 1 - - - - Ins ad6d6488-3274-11e6-b747-d9deed3c4f5d X_91152978_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA X 91152978 CT C 290 PASS PCDH11X Del intronic 1 8 MSH6 parent X_91152978_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ad6f24f6-329e-11e6-aea7-956725c9da85 3_12486122_GGAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 12486122 GGA G 720 PASS - Del - 2 4 MSH6 child 3_12486122_GGAG_MSH6 2 2 2 GA 3 GA Repeat-mediated ad74ea44-328a-11e6-9c89-8d090e01a414 1_76986983_TACT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 76986983 TAC T 360 PASS ST6GALNAC3 Del intronic 2 6 MSH6 child 1_76986983_TACT_MSH6 2 2 2 AC 5 AC Repeat-mediated ad74f80c-329b-11e6-aca6-b39fcc638e3d 2_125133360_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 125133360 CA C 300 PASS CNTNAP5 Del intronic 1 8 MSH6 child 2_125133360_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ad82dc7c-3289-11e6-821d-8c090e01a414 13_41872163_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 41872163 CT C 660 PASS - Del - 1 9 MSH6 child 13_41872163_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ad835642-3276-11e6-92d2-c259c225ee11 3_26702208_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 26702208 TA T 660 PASS LRRC3B Del intronic 1 8 MSH6 child 3_26702208_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ad8431cc-3274-11e6-bde9-8c1aead19ece 10_74520032_GTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCTCAAAGTATGGGGATTACAGGTGTGAGCCACCTCACCCAGCCAAAATTTTGAAATCTTTATTCAAGAAATGGTTCCCTGAAAAACCAGGTTATAATGCTCAAAAGTCACACTTTAAGAGAAAGGAATATTTAGTGAGCACTTAACACCAGGGCTTGTTTTAGATTTATTTAAAAATATATTTTATAATTTGGTCCTCAAAAAACCCTACGTCATAAATGTTTTGGTTTTCTTTTGTTTTTAGAGAGGGTCTCACCCCGTCACCCAGGCTGAAGTGCGGTGGCATGATCTTGGCTCACTGCAGCCTCAAACG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 10 74520032 GTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCTCAAAGTATGGGGATTACAGGTGTGAGCCACCTCACCCAGCCAAAATTTTGAAATCTTTATTCAAGAAATGGTTCCCTGAAAAACCAGGTTATAATGCTCAAAAGTCACACTTTAAGAGAAAGGAATATTTAGTGAGCACTTAACACCAGGGCTTGTTTTAGATTTATTTAAAAATATATTTTATAATTTGGTCCTCAAAAAACCCTACGTCATAAATGTTTTGGTTTTCTTTTGTTTTTAGAGAGGGTCTCACCCCGTCACCCAGGCTGAAGTGCGGTGGCATGATCTTGGCTCACTGCAGCCTCAAAC G 300 PASS MCU Del intronic 344 1 NEIL1 child 10_74520032_GTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCTCAAAGTATGGGGATTACAGGTGTGAGCCACCTCACCCAGCCAAAATTTTGAAATCTTTATTCAAGAAATGGTTCCCTGAAAAACCAGGTTATAATGCTCAAAAGTCACACTTTAAGAGAAAGGAATATTTAGTGAGCACTTAACACCAGGGCTTGTTTTAGATTTATTTAAAAATATATTTTATAATTTGGTCCTCAAAAAACCCTACGTCATAAATGTTTTGGTTTTCTTTTGTTTTTAGAGAGGGTCTCACCCCGTCACCCAGGCTGAAGTGCGGTGGCATGATCTTGGCTCACTGCAGCCTCAAACG_NEIL1 344 >=10 14 TCCTGGGCTCAAGC 0 - Microhomology-mediated ad85c004-328e-11e6-b81f-4ee66f39e758 8_603518_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 603518 CT C 660 PASS - Del - 1 8 MSH6 child 8_603518_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ad86f3b2-327e-11e6-8cd8-82e7b41afd22 7_25952188_ACA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 7 25952188 AC A 540 PASS - Del - 1 1 POLM child 7_25952188_ACA_POLM 1 1 0 - 0 C None ad90e426-3283-11e6-89eb-f2eacdacbbbf 4_123784946_GAGATCCATAGGCG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 123784946 GAGATCCATAGGC G 840 PASS FGF2 Del intronic 12 1 EXO1 child 4_123784946_GAGATCCATAGGCG_EXO1 12 >=10 2 AG 0 - Microhomology-mediated ad932416-32a1-11e6-b696-dd6225c9da85 5_120818093_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 120818093 G GT 600 PASS - Ins - 1 3 MSH6 child 5_120818093_GGT_MSH6 1 1 - - - - Ins ad9f8fec-3276-11e6-9e0f-7959cab49462 7_80101448_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 80101448 AT A 960 PASS CD36 Del intronic 1 8 MSH6 child 7_80101448_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ada33906-3287-11e6-9a8e-d2b1f6dffcf6 1_102287650_CTAC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 102287650 CTA C 540 PASS OLFM3 Del intronic 2 1 NUDT1 parent 1_102287650_CTAC_NUDT1 2 2 1 T 0 - Microhomology-mediated adb4750c-3270-11e6-b89d-b2d6b0dab373 4_78798363_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 78798363 GT G 360 PASS MRPL1 Del intronic 1 7 MSH6 child 4_78798363_GTG_MSH6 1 1 1 T 6 T Repeat-mediated adc11992-327a-11e6-ab1d-16d9ecf1e924 20_55240188_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 55240188 GA G 480 PASS RNU6-1146P Del upstream 1 8 MSH6 child 20_55240188_GAG_MSH6 1 1 1 A 7 A Repeat-mediated adca01dc-3285-11e6-be43-0a6ea2c71c31 10_109170898_GCTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 109170898 GCT G 540 PASS - Del - 2 6 MSH6 child 10_109170898_GCTG_MSH6 2 2 2 CT 5 CT Repeat-mediated adce0afe-328d-11e6-919e-92c36f39e758 2_148961896_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 148961896 GA G 420 PASS MBD5 Del intronic 1 8 MSH6 child 2_148961896_GAG_MSH6 1 1 1 A 7 A Repeat-mediated addb3d6a-328c-11e6-88c1-95c36f39e758 14_87757882_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 87757882 TA T 420 PASS - Del - 1 8 MSH6 child 14_87757882_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ade4b1a2-3277-11e6-ab97-84f471d7bc54 6_77525530_CTC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 6 77525530 CT C 480 PASS - Del - 1 7 NEIL1 child 6_77525530_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated ade7dc24-3295-11e6-a718-6f48a178171f 2_234408458_GAG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 2 234408458 GA G 540 PASS USP40 Del intronic 1 9 POLB child 2_234408458_GAG_POLB 1 1 1 A 8 A Repeat-mediated ade8e63e-3284-11e6-99f7-076ea2c71c31 12_25112419_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 25112419 AT A 480 PASS - Del - 1 8 MSH6 child 12_25112419_ATA_MSH6 1 1 1 T 7 T Repeat-mediated adf05ed2-32a2-11e6-b970-398625c9da85 20_20906356_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 20906356 GA G 660 PASS - Del - 1 9 MSH6 child 20_20906356_GAG_MSH6 1 1 1 A 8 A Repeat-mediated adfa24b6-3285-11e6-9e78-7d3e51c54cdd 2_124468349_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 2 124468349 AT A 360 PASS - Del - 1 9 EXO1 child 2_124468349_ATA_EXO1 1 1 1 T 8 T Repeat-mediated ae041546-3287-11e6-b32c-fd87a2c71c31 5_159732364_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 159732364 CT C 600 PASS CCNJL Del intronic 1 4 MSH6 child 5_159732364_CTC_MSH6 1 1 1 T 3 T Repeat-mediated ae0b0912-328e-11e6-9c89-8d090e01a414 1_50971044_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 50971044 C CA 840 PASS FAF1 Ins intronic 1 3 MSH6 child 1_50971044_CCA_MSH6 1 1 - - - - Ins ae108c20-328e-11e6-8e48-791e0e01a414 8_71061315_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 71061315 CT C 480 PASS NCOA2 Del intronic 1 7 MSH6 child 8_71061315_CTC_MSH6 1 1 1 T 6 T Repeat-mediated ae157ec4-3324-11e6-b0c6-e1e369062303 5_2491972_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 5 2491972 CA C 420 PASS - Del - 1 8 EXO1 child 5_2491972_CAC_EXO1 1 1 1 A 7 A Repeat-mediated ae224db4-329f-11e6-91d0-016425c9da85 7_130602340_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 130602340 CA C 360 PASS MIR29A Del upstream 1 8 MSH6 child 7_130602340_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ae28ff42-3259-11e6-8cd9-139b7872c165 3_168097138_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 168097138 CT C 420 PASS - Del - 1 5 MSH6 child 3_168097138_CTC_MSH6 1 1 1 T 4 T Repeat-mediated ae2a9b4c-3284-11e6-a8af-066ea2c71c31 15_39339086_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 39339086 TA T 420 PASS - Del - 1 7 MSH6 child 15_39339086_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ae30792c-328e-11e6-9230-fb250e01a414 3_50166713_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 50166713 AC A 600 PASS - Del - 1 5 MSH6 child 3_50166713_ACA_MSH6 1 1 1 C 4 C Repeat-mediated ae31f740-3282-11e6-a072-0fc02daed38e 7_5001962_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 7 5001962 TA T 300 PASS MMD2 Del upstream 1 5 POLB child 7_5001962_TAT_POLB 1 1 1 A 4 A Repeat-mediated ae32864c-329b-11e6-ae71-0c5325c9da85 1_98292389_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 98292389 CT C 600 PASS DPYD Del intronic 1 8 MSH6 child 1_98292389_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ae369fc6-3272-11e6-9e18-3a69671699ea 10_21471238_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 21471238 CA C 780 PASS - Del - 1 8 MSH6 child 10_21471238_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ae3acd86-3253-11e6-b4d0-327a7872c165 11_10357612_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 10357612 CT C 360 PASS AMPD3 Del intronic 1 9 MSH6 child 11_10357612_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ae4a229c-3288-11e6-b9eb-c78fa2c71c31 6_79496320_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 79496320 TA T 508 PASS - Del - 1 1 MSH6 child 6_79496320_TAT_MSH6 1 1 0 - 0 A None ae4eb0ca-3321-11e6-b981-016519a91649 2_127376367_GAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 2 127376367 GA G 420 PASS - Del - 1 9 CHK2 child 2_127376367_GAG_CHK2 1 1 1 A 8 A Repeat-mediated ae50d220-3276-11e6-998e-ba48fa52e078 8_69153482_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 69153482 GA G 420 PASS PREX2 Del downstream 1 7 MSH6 child 8_69153482_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ae529888-3291-11e6-b77d-2eef6f39e758 6_79699199_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 79699199 GA G 600 PASS PHIP Del intronic 1 7 MSH6 child 6_79699199_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ae699986-3276-11e6-a2b7-2d8b671699ea 21_18888137_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 18888137 CA C 420 PASS CXADR Del intronic 1 9 MSH6 child 21_18888137_CAC_MSH6 1 1 1 A 8 A Repeat-mediated ae71cae8-328a-11e6-8459-82090e01a414 12_83627967_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 83627967 GT G 300 PASS - Del - 1 7 MSH6 child 12_83627967_GTG_MSH6 1 1 1 T 6 T Repeat-mediated ae73f582-3291-11e6-b78c-8cb4e7d0bdd7 6_45825586_ACACAATTAATCTA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 6 45825586 ACACAATTAATCT A 300 PASS - Del - 12 1 FANCC child 6_45825586_ACACAATTAATCTA_FANCC 12 >=10 5 CACAA 0 - Microhomology-mediated ae75670c-328a-11e6-a380-15ec54de4fc4 1_158544550_CTC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 1 158544550 CT C 360 PASS OR10X1 Del downstream 1 9 CHK2 child 1_158544550_CTC_CHK2 1 1 1 T 8 T Repeat-mediated ae7946ea-3273-11e6-aa3b-ca60a178171f 13_105720993_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 105720993 AT A 540 PASS - Del - 1 8 MSH6 child 13_105720993_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ae8aeb22-3285-11e6-90da-f3a469062303 6_111609603_ACTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 111609603 ACT A 540 PASS - Del - 2 2 FANCC child 6_111609603_ACTA_FANCC 2 2 2 CT 1 CT Repeat-mediated ae94fc60-3286-11e6-a0a8-096ea2c71c31 11_82166264_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 82166264 T TA 660 PASS RP11-179A16.1 Ins intronic 1 7 MSH6 child 11_82166264_TTA_MSH6 1 1 - - - - Ins ae96853a-3272-11e6-83ef-69fb06e9a829 18_20448471_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 20448471 TA T 600 PASS RBBP8 Del intronic 1 8 MSH6 child 18_20448471_TAT_MSH6 1 1 1 A 7 A Repeat-mediated aea69dd0-3290-11e6-9d24-ade56f39e758 7_137465693_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 137465693 TA T 420 PASS DGKI Del intronic 1 5 MSH6 child 7_137465693_TAT_MSH6 1 1 1 A 4 A Repeat-mediated aecb87ae-3253-11e6-9f9d-2c7a7872c165 12_9941575_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 9941575 CA C 480 PASS - Del - 1 7 MSH6 child 12_9941575_CAC_MSH6 1 1 1 A 6 A Repeat-mediated aed379f4-328b-11e6-8770-3e160e01a414 9_3105681_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 3105681 AT A 300 PASS - Del - 1 7 MSH6 child 9_3105681_ATA_MSH6 1 1 1 T 6 T Repeat-mediated aed8ce90-3259-11e6-8340-da9012ae24cf 6_80049477_ATCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 80049477 ATC A 540 PASS - Del - 2 4 MSH6 child 6_80049477_ATCA_MSH6 2 2 2 TC 3 TC Repeat-mediated aedc1608-3291-11e6-b3a9-d5afe7d0bdd7 4_148493057_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 148493057 AT A 420 PASS RP11-752L20.5 Del intronic 1 6 FANCC child 4_148493057_ATA_FANCC 1 1 1 T 5 T Repeat-mediated aee6036c-3272-11e6-abaf-4642cab49462 6_75235856_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 75235856 AT A 300 PASS RP11-554D15.1 Del intronic 1 7 MSH6 child 6_75235856_ATA_MSH6 1 1 1 T 6 T Repeat-mediated aeec3980-3286-11e6-afcf-0311bce6aa09 9_106494671_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 106494671 CA C 420 PASS - Del - 1 8 MSH6 child 9_106494671_CAC_MSH6 1 1 1 A 7 A Repeat-mediated aef28534-3276-11e6-998e-ba48fa52e078 8_69495983_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 69495983 CT C 600 PASS C8orf34 Del intronic 1 8 MSH6 child 8_69495983_CTC_MSH6 1 1 1 T 7 T Repeat-mediated aef7eef6-326d-11e6-b9f4-5d1d694da5d2 14_91810085_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 91810085 TA T 480 PASS CCDC88C Del intronic 1 9 MSH6 child 14_91810085_TAT_MSH6 1 1 1 A 8 A Repeat-mediated aefc4ace-3285-11e6-ae72-519738e8a824 5_163702560_GATTGGCAAACAGTGAAATTGAGGTGATTTTTATGCTTGGGATGACTTAAAAATCATTATACTAGAGGAGTAGTTTAGTATTGCCTGGCTTGTGATAAATGTTACCATGCAATAAAAATCCTGAAATCTCTGTATTATCCTTAGCTTTATGGGTTCAATGCATATGGAAATGCAAATACTCAAATTACAAGCAATAGAACTTCAAAGCTCAG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 5 163702560 GATTGGCAAACAGTGAAATTGAGGTGATTTTTATGCTTGGGATGACTTAAAAATCATTATACTAGAGGAGTAGTTTAGTATTGCCTGGCTTGTGATAAATGTTACCATGCAATAAAAATCCTGAAATCTCTGTATTATCCTTAGCTTTATGGGTTCAATGCATATGGAAATGCAAATACTCAAATTACAAGCAATAGAACTTCAAAGCTCA G 720 PASS - Del - 210 1 POLE parent 5_163702560_GATTGGCAAACAGTGAAATTGAGGTGATTTTTATGCTTGGGATGACTTAAAAATCATTATACTAGAGGAGTAGTTTAGTATTGCCTGGCTTGTGATAAATGTTACCATGCAATAAAAATCCTGAAATCTCTGTATTATCCTTAGCTTTATGGGTTCAATGCATATGGAAATGCAAATACTCAAATTACAAGCAATAGAACTTCAAAGCTCAG_POLE 210 >=10 4 ATTG 0 - Microhomology-mediated aefd43ae-327e-11e6-8cd6-250199816cf3 5_165388539_CATC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 5 165388539 CAT C 360 PASS - Del - 2 2 POLM child 5_165388539_CATC_POLM 2 2 2 AT 1 AT Repeat-mediated aefea314-3258-11e6-acc5-308412ae24cf 5_168282841_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 168282841 AT A 360 PASS SLIT3 Del intronic 1 6 MSH6 child 5_168282841_ATA_MSH6 1 1 1 T 5 T Repeat-mediated af02e69e-3254-11e6-aa0b-72f912ae24cf 8_2098936_ATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 2098936 AT A 660 PASS - Del - 1 8 POLB child 8_2098936_ATA_POLB 1 1 1 T 7 T Repeat-mediated af083c74-328c-11e6-b4fe-93c36f39e758 12_68345408_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 68345408 TC T 480 PASS GS1-410F4.4 Del intronic 1 1 MSH6 child 12_68345408_TCT_MSH6 1 1 0 - 0 C None af0abfd6-3272-11e6-9e18-3a69671699ea 10_21618795_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 21618795 CA C 540 PASS - Del - 1 8 MSH6 child 10_21618795_CAC_MSH6 1 1 1 A 7 A Repeat-mediated af0ad050-3297-11e6-854b-9fa830158702 20_58071569_GCAG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 20 58071569 GCA G 300 PASS - Del - 2 4 NUDT1 child 20_58071569_GCAG_NUDT1 2 2 2 CA 3 CA Repeat-mediated af125018-3284-11e6-ba80-c6262eaed38e 2_137691204_CCT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 2 137691204 C CT 300 PASS THSD7B Ins intronic 1 7 POLB child 2_137691204_CCT_POLB 1 1 - - - - Ins af150b56-329c-11e6-a5cf-e5abcc638e3d 9_31381801_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 31381801 GA G 420 PASS RP11-271O3.1 Del upstream 1 7 MSH6 child 9_31381801_GAG_MSH6 1 1 1 A 6 A Repeat-mediated af16ec1c-328f-11e6-b97d-a8b305ad5bc4 20_6010800_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 6010800 AT A 660 PASS CRLS1 Del intronic 1 9 MSH6 child 20_6010800_ATA_MSH6 1 1 1 T 8 T Repeat-mediated af1d0fd2-328c-11e6-a2cb-f3ac12ae24cf 5_77720543_CAC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 5 77720543 CA C 300 PASS SCAMP1 Del intronic 1 9 CHK2 child 5_77720543_CAC_CHK2 1 1 1 A 8 A Repeat-mediated af3e5bcc-328e-11e6-919e-92c36f39e758 2_213699704_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 213699704 GT G 420 PASS - Del - 1 8 MSH6 child 2_213699704_GTG_MSH6 1 1 1 T 7 T Repeat-mediated af3ec6e8-3257-11e6-885f-d1947872c165 4_110188945_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 110188945 TA T 360 PASS COL25A1 Del intronic 1 9 MSH6 child 4_110188945_TAT_MSH6 1 1 1 A 8 A Repeat-mediated af456be2-328e-11e6-919e-92c36f39e758 2_213701359_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 213701359 AT A 480 PASS - Del - 1 8 MSH6 child 2_213701359_ATA_MSH6 1 1 1 T 7 T Repeat-mediated af473182-3272-11e6-b8ae-92c57872c165 14_38659832_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 38659832 CA C 442 PASS CTD-2142D14.1 Del upstream 1 9 MSH6 child 14_38659832_CAC_MSH6 1 1 1 A 8 A Repeat-mediated af47c872-3290-11e6-9230-fb250e01a414 3_182961917_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 182961917 CA C 360 PASS MCF2L2 Del intronic 1 9 MSH6 child 3_182961917_CAC_MSH6 1 1 1 A 8 A Repeat-mediated af48da66-334c-11e6-911d-cdceb0dab373 9_113734923_GGATACTTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 9 113734923 GGATACTT G 300 PASS LPAR1 Del intronic 7 1 FANCC child 9_113734923_GGATACTTG_FANCC 7 7 2 GA 0 - Microhomology-mediated af4a1efe-3274-11e6-9b52-2fdc6de4ab00 12_92822581_GCG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 12 92822581 GC G 600 PASS CLLU1OS Del upstream 1 2 EXO1 child 12_92822581_GCG_EXO1 1 1 1 C 1 C Repeat-mediated af4be6b6-3257-11e6-885f-d1947872c165 4_110225270_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 110225270 TA T 600 PASS COL25A1 Del upstream 1 8 MSH6 child 4_110225270_TAT_MSH6 1 1 1 A 7 A Repeat-mediated af559320-3287-11e6-a5b3-3f1ebce6aa09 7_115120068_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 115120068 CT C 480 PASS - Del - 1 9 MSH6 child 7_115120068_CTC_MSH6 1 1 1 T 8 T Repeat-mediated af56be84-3274-11e6-85c1-8b573cfdbd24 13_115005106_CAAC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 13 115005106 CAA C 420 PASS CDC16 Del intronic 2 6 CHK2 child 13_115005106_CAAC_CHK2 2 2 2 AA 4 A Repeat-mediated af59fa24-3272-11e6-bfb2-2749c225ee11 12_22525012_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 22525012 TA T 420 PASS - Del - 1 7 MSH6 child 12_22525012_TAT_MSH6 1 1 1 A 6 A Repeat-mediated af5aea22-326f-11e6-be3d-925130158702 1_34957936_GTG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 1 34957936 GT G 480 PASS - Del - 1 6 POLB child 1_34957936_GTG_POLB 1 1 1 T 5 T Repeat-mediated af5c6cfa-3272-11e6-be56-9cdfd7fd0a58 4_73952091_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 4 73952091 AT A 720 PASS ANKRD17 Del intronic 1 9 NUDT1 child 4_73952091_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated af6805f4-3279-11e6-83cd-a472a178171f 4_134712377_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 134712377 G GT 540 PASS - Ins - 1 7 MSH6 child 4_134712377_GGT_MSH6 1 1 - - - - Ins af6af720-3272-11e6-8165-0dc17872c165 9_125115222_AGTTTAATGG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 9 125115222 AGTTTA ATGG 960 PASS - Complex - 5 0 NEIL1 child 9_125115222_AGTTTAATGG_NEIL1 2 2 - - - - Complex af6be2a6-3287-11e6-b686-d35a51c54cdd 4_53607584_GTG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 53607584 GT G 600 PASS ERVMER34-1 Del downstream 1 9 EXO1 child 4_53607584_GTG_EXO1 1 1 1 T 8 T Repeat-mediated af6dd820-328e-11e6-9432-c0e56f39e758 5_9327599_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 9327599 TA T 540 PASS SEMA5A Del intronic 1 4 MSH6 child 5_9327599_TAT_MSH6 1 1 1 A 3 A Repeat-mediated af72c582-328f-11e6-b97d-a8b305ad5bc4 20_6178200_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 6178200 GT G 480 PASS - Del - 1 9 MSH6 child 20_6178200_GTG_MSH6 1 1 1 T 8 T Repeat-mediated af72e8c4-3293-11e6-b963-13387a852e0e 3_38903619_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 3 38903619 GA G 420 PASS SCN11A Del intronic 1 8 CHK2 child 3_38903619_GAG_CHK2 1 1 1 A 7 A Repeat-mediated af79ae72-328c-11e6-bd84-429305ad5bc4 1_157647518_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 157647518 TA T 300 PASS FCRL3 Del 3prime_UTR_variant 1 8 MSH6 child 1_157647518_TAT_MSH6 1 1 1 A 7 A Repeat-mediated af7ce2e6-3281-11e6-86cf-8f288e4678dd 10_103422432_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 103422432 CT C 360 PASS FBXW4 Del intronic 1 8 FANCC child 10_103422432_CTC_FANCC 1 1 1 T 7 T Repeat-mediated af7d635e-326f-11e6-bfba-13bf4a47a305 9_123386823_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 123386823 GA G 300 PASS MEGF9 Del intronic 1 9 MSH6 child 9_123386823_GAG_MSH6 1 1 1 A 8 A Repeat-mediated af806baa-3254-11e6-8ebc-3ef212ae24cf 15_66873607_CCAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 66873607 CCA C 420 PASS - Del - 2 2 MSH6 child 15_66873607_CCAC_MSH6 2 2 2 CA 1 CA Repeat-mediated af81be70-3253-11e6-bf41-357a7872c165 10_11689314_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 11689314 GA G 360 PASS - Del - 1 9 MSH6 child 10_11689314_GAG_MSH6 1 1 1 A 8 A Repeat-mediated af8710c4-3270-11e6-b5b8-e0c24a47a305 X_77890075_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 77890075 AT A 300 PASS - Del - 1 8 MSH6 child X_77890075_ATA_MSH6 1 1 1 T 7 T Repeat-mediated af8a0584-329a-11e6-aca6-b39fcc638e3d 2_61615111_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 61615111 TA T 360 PASS USP34 Del intronic 1 8 MSH6 child 2_61615111_TAT_MSH6 1 1 1 A 7 A Repeat-mediated af8f6c34-3292-11e6-9401-04ed6f39e758 3_190846975_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 190846975 TA T 600 PASS - Del - 1 9 MSH6 child 3_190846975_TAT_MSH6 1 1 1 A 8 A Repeat-mediated af95a884-325a-11e6-885f-d1947872c165 4_127722871_AATG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 127722871 A ATG 300 PASS - Ins - 2 6 MSH6 child 4_127722871_AATG_MSH6 2 2 - - - - Ins af96f138-3289-11e6-b093-c9c7b0dab373 2_199491687_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 199491687 T TA 660 PASS AC019330.1 Ins intronic 1 7 MSH6 child 2_199491687_TTA_MSH6 1 1 - - - - Ins af9ea17c-3292-11e6-8cd8-07045e753391 2_137691204_CCT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 2 137691204 C CT 420 PASS THSD7B Ins intronic 1 7 POLB child 2_137691204_CCT_POLB 1 1 - - - - Ins afa535b2-3258-11e6-a39a-dc8512ae24cf 8_61387758_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 61387758 GT G 600 PASS RP11-163N6.2 Del intronic 1 8 MSH6 child 8_61387758_GTG_MSH6 1 1 1 T 7 T Repeat-mediated afa6c842-3284-11e6-870e-6af1bbe6aa09 19_17372976_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 17372976 AT A 840 PASS USHBP1 Del intronic 1 9 MSH6 child 19_17372976_ATA_MSH6 1 1 1 T 8 T Repeat-mediated afaba686-328f-11e6-aaa2-31b34430f757 4_47838500_CAGC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 4 47838500 CAG C 660 PASS CORIN Del intronic 2 2 POLE child 4_47838500_CAGC_POLE 2 2 2 AG 1 AG Repeat-mediated afabdfa0-328c-11e6-aa75-90c36f39e758 13_94528531_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 94528531 CA C 480 PASS GPC6 Del intronic 1 6 MSH6 child 13_94528531_CAC_MSH6 1 1 1 A 5 A Repeat-mediated afaea27e-328e-11e6-8f31-bfe16f39e758 9_71653709_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 71653709 CA C 840 PASS FXN Del intronic 1 8 MSH6 child 9_71653709_CAC_MSH6 1 1 1 A 7 A Repeat-mediated afaef59e-32a2-11e6-bc66-17b4cc638e3d 8_87510017_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 87510017 C CT 720 PASS CPNE3 Ins intronic 1 0 MSH6 child 8_87510017_CCT_MSH6 1 1 - - - - Ins afb3900a-32a1-11e6-a04f-c66a25c9da85 6_155052502_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 155052502 CT C 660 PASS SCAF8 Del upstream 1 8 MSH6 child 6_155052502_CTC_MSH6 1 1 1 T 7 T Repeat-mediated afc18a50-3271-11e6-be0b-bed2cde16804 14_66769379_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 14 66769379 TA T 294 PASS RP11-72M17.1 Del intronic 1 9 MSH6 parent 14_66769379_TAT_MSH6 1 1 1 A 8 A Repeat-mediated afc90260-326e-11e6-9003-ae204b47a305 19_41982741_TTTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 41982741 T TTA 300 PASS AC011526.1 Ins intronic 2 1 MSH6 child 19_41982741_TTTA_MSH6 2 2 - - - - Ins afd0bb5a-3290-11e6-9401-04ed6f39e758 3_48358985_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 48358985 TA T 360 PASS SPINK8 Del intronic 1 9 MSH6 child 3_48358985_TAT_MSH6 1 1 1 A 8 A Repeat-mediated afd735a8-3271-11e6-b923-6726694da5d2 5_162820323_AACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 162820323 AAC A 360 PASS - Del - 2 7 MSH6 child 5_162820323_AACA_MSH6 2 2 2 AC 6 AC Repeat-mediated afddb5b6-328c-11e6-8459-82090e01a414 12_58389497_CCAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 58389497 C CAT 360 PASS - Ins - 2 4 MSH6 child 12_58389497_CCAT_MSH6 2 2 - - - - Ins afddf81c-3270-11e6-b89d-b2d6b0dab373 4_79216161_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 79216161 CT C 480 PASS FRAS1 Del intronic 1 9 MSH6 child 4_79216161_CTC_MSH6 1 1 1 T 8 T Repeat-mediated afe0171c-3286-11e6-9f05-70ef1da8ec0e 10_122928642_AAAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 122928642 A AAT 300 PASS - Ins - 2 0 EXO1 child 10_122928642_AAAT_EXO1 2 2 - - - - Ins afe20d76-3275-11e6-9074-69cc19a91649 X_53651913_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA X 53651913 GA G 480 PASS HUWE1 Del intronic 1 7 EXO1 child X_53651913_GAG_EXO1 1 1 1 A 6 A Repeat-mediated afeabe1a-329f-11e6-bc2c-2a5e25c9da85 4_177717828_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 177717828 AT A 660 PASS VEGFC Del upstream 1 7 MSH6 child 4_177717828_ATA_MSH6 1 1 1 T 6 T Repeat-mediated afeae78e-3270-11e6-9d19-c216987b3f23 21_31682270_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 31682270 CT C 360 PASS - Del - 1 9 MSH6 child 21_31682270_CTC_MSH6 1 1 1 T 8 T Repeat-mediated aff0aa32-3290-11e6-9230-fb250e01a414 3_183062540_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 183062540 GA G 300 PASS MCF2L2 Del intronic 1 8 MSH6 child 3_183062540_GAG_MSH6 1 1 1 A 7 A Repeat-mediated aff29428-3272-11e6-bfb2-2749c225ee11 12_22825947_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 22825947 CA C 300 PASS ETNK1 Del intronic 1 8 MSH6 child 12_22825947_CAC_MSH6 1 1 1 A 7 A Repeat-mediated aff5aa4c-3271-11e6-9dfc-541498ba1142 8_23353984_AATGTGGGGA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 8 23353984 AATGTGGGG A 540 PASS CTC-756D1.3 Del upstream 8 1 EXO1 parent 8_23353984_AATGTGGGGA_EXO1 8 8 1 A 0 - Microhomology-mediated aff5cd58-3279-11e6-9e0f-7959cab49462 7_122957634_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 122957634 C CA 660 PASS - Ins - 1 5 MSH6 child 7_122957634_CCA_MSH6 1 1 - - - - Ins aff96cc8-3284-11e6-94be-6cfa4430f757 12_58491066_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 58491066 TA T 540 PASS RP11-58A17.4 Del downstream 1 3 EXO1 child 12_58491066_TAT_EXO1 1 1 1 A 2 A Repeat-mediated affa134e-3270-11e6-8141-e0f3eab8d062 16_4178739_AAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 16 4178739 A AT 540 PASS - Ins - 1 5 NUDT1 child 16_4178739_AAT_NUDT1 1 1 - - - - Ins affebc80-329f-11e6-91d0-016425c9da85 7_130902655_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 130902655 CA C 780 PASS - Del - 1 4 MSH6 child 7_130902655_CAC_MSH6 1 1 1 A 3 A Repeat-mediated b003a306-3274-11e6-b539-d702ebb8d062 7_149337745_TGGGTAG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 149337745 TGGG TAG 285 PASS - Complex - 3 0 NUDT1 child 7_149337745_TGGGTAG_NUDT1 1 1 - - - - Complex b00bcd62-3290-11e6-9d97-efe56f39e758 4_139344131_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 139344131 AT A 480 PASS LINC00499 Del intronic 1 9 MSH6 child 4_139344131_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b00e80ec-328c-11e6-8952-77c36f39e758 10_72183580_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 72183580 CA C 360 PASS EIF4EBP2 Del 3prime_UTR_variant 1 8 MSH6 child 10_72183580_CAC_MSH6 1 1 1 A 7 A Repeat-mediated b0145f74-325c-11e6-8340-da9012ae24cf 6_111875300_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 111875300 A AT 660 PASS TRAF3IP2 Ins downstream 1 7 MSH6 child 6_111875300_AAT_MSH6 1 1 - - - - Ins b014c5fc-3295-11e6-83fc-8f4c0d016689 4_45356024_AATAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 4 45356024 A ATAT 360 PASS - Ins - 3 0 NUDT1 child 4_45356024_AATAT_NUDT1 3 3 - - - - Ins b016ac3c-3281-11e6-b735-71393dc9300a 10_8929422_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 10 8929422 GA G 540 PASS - Del - 1 7 NEIL1 parent 10_8929422_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated b0194260-326f-11e6-8e5c-87d3d7fd0a58 1_40338567_AAAAGA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 1 40338567 AAAAG A 600 PASS TRIT1 Del intronic 4 3 POLB child 1_40338567_AAAAGA_POLB 4 4 4 AAAG 2 AAAG Repeat-mediated b01c2fdc-3276-11e6-8629-39703cfdbd24 4_25683368_TGGAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 4 25683368 TGGA T 480 PASS SLC34A2 Del downstream 3 2 CHK2 child 4_25683368_TGGAT_CHK2 3 3 3 GGA 1 GGA Repeat-mediated b020e9ea-328b-11e6-8256-94c36f39e758 17_7939219_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 7939219 GA G 480 PASS ALOX15B Del upstream 1 8 MSH6 child 17_7939219_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b0267b30-3290-11e6-a039-080d9c6d3b88 7_84892459_GCTAG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 7 84892459 GCTA G 420 PASS - Del - 3 2 POLB child 7_84892459_GCTAG_POLB 3 3 3 CTA 1 CTA Repeat-mediated b03203ec-3326-11e6-9eb4-dd99cf737e61 8_111514712_CAC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 111514712 CA C 480 PASS - Del - 1 8 EXO1 child 8_111514712_CAC_EXO1 1 1 1 A 7 A Repeat-mediated b036480c-328c-11e6-8770-3e160e01a414 9_84299036_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 84299036 CA C 360 PASS TLE1 Del intronic 1 8 MSH6 child 9_84299036_CAC_MSH6 1 1 1 A 7 A Repeat-mediated b03bdd1a-3252-11e6-8c4a-b6e612ae24cf 16_67866504_TAGT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 16 67866504 TAG T 840 PASS TSNAXIP1 Del downstream 2 2 POLB child 16_67866504_TAGT_POLB 2 2 2 AG 1 AG Repeat-mediated b04c16c4-3277-11e6-81cf-37408a20d9eb 8_48740021_AAAAATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 48740021 AAAAAT A 296 PASS PRKDC Del intronic 5 1 EXO1 child 8_48740021_AAAAATA_EXO1 5 5 2 AA 0 - Microhomology-mediated b04d8ae0-3290-11e6-b81f-4ee66f39e758 8_64628610_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 64628610 CT C 660 PASS RP11-579E24.2 Del intronic 1 8 MSH6 child 8_64628610_CTC_MSH6 1 1 1 T 7 T Repeat-mediated b0503bc8-3272-11e6-aa3b-ca60a178171f 13_38412133_TTCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 38412133 TTC T 720 PASS TRPC4 Del intronic 2 4 MSH6 child 13_38412133_TTCT_MSH6 2 2 2 TC 3 TC Repeat-mediated b059d9c6-3277-11e6-b0ed-7298a20b69d5 6_155715473_ATA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 6 155715473 AT A 360 PASS NOX3 Del downstream 1 8 NUDT1 child 6_155715473_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated b05a5014-3294-11e6-a718-6f48a178171f 2_167728498_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 2 167728498 TA T 360 PASS - Del - 1 8 POLB child 2_167728498_TAT_POLB 1 1 1 A 7 A Repeat-mediated b0648b9a-328c-11e6-b6a6-1f1e0e01a414 4_15348657_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 15348657 CA C 300 PASS C1QTNF7 Del intronic 1 8 MSH6 child 4_15348657_CAC_MSH6 1 1 1 A 7 A Repeat-mediated b06a3468-326f-11e6-b89d-b2d6b0dab373 4_12958627_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 12958627 CT C 360 PASS - Del - 1 6 MSH6 child 4_12958627_CTC_MSH6 1 1 1 T 5 T Repeat-mediated b06ea30e-329c-11e6-ae71-0c5325c9da85 1_162504215_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 162504215 CA C 540 PASS UHMK1 Del downstream 1 8 MSH6 child 1_162504215_CAC_MSH6 1 1 1 A 7 A Repeat-mediated b089a82c-3286-11e6-afcf-0311bce6aa09 9_107144725_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 107144725 TA T 420 PASS - Del - 1 9 MSH6 child 9_107144725_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b08f3342-3285-11e6-a7ff-5779a178171f 10_2746305_ACACACAGTGAACTCATCCCTAAGGCTTCTGTAGACACAGTCTGCAGCTTATTGACTTGA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 2746305 ACACACAGTGAACTCATCCCTAAGGCTTCTGTAGACACAGTCTGCAGCTTATTGACTTG A 360 PASS - Del - 58 1 FANCC child 10_2746305_ACACACAGTGAACTCATCCCTAAGGCTTCTGTAGACACAGTCTGCAGCTTATTGACTTGA_FANCC 58 >=10 2 CA 0 - Microhomology-mediated b090f528-329a-11e6-8d0f-075325c9da85 14_67946442_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 67946442 GA G 720 PASS TMEM229B Del intronic 1 9 MSH6 child 14_67946442_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b093b4d6-3275-11e6-972b-b65bfc77b11e 1_184540272_CAC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 184540272 CA C 480 PASS C1orf21 Del intronic 1 9 CHK2 child 1_184540272_CAC_CHK2 1 1 1 A 8 A Repeat-mediated b094d4d0-3273-11e6-972b-b65bfc77b11e 1_36128969_GAG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 36128969 GA G 840 PASS - Del - 1 3 CHK2 child 1_36128969_GAG_CHK2 1 1 1 A 2 A Repeat-mediated b0962a28-3279-11e6-9e25-e58e2aaffa45 4_177286301_GGT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 177286301 G GT 600 PASS - Ins - 1 6 EXO1 child 4_177286301_GGT_EXO1 1 1 - - - - Ins b096711a-326d-11e6-92dd-fda8977b3f23 10_83547361_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 83547361 TA T 420 PASS - Del - 1 4 MSH6 child 10_83547361_TAT_MSH6 1 1 1 A 3 A Repeat-mediated b096939e-3285-11e6-99f7-076ea2c71c31 12_111016788_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 111016788 TA T 480 PASS PPTC7 Del intronic 1 7 MSH6 child 12_111016788_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b096d236-3259-11e6-a39a-dc8512ae24cf 8_138199037_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 138199037 GA G 420 PASS - Del - 1 9 MSH6 child 8_138199037_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b0aa0154-326c-11e6-b9f4-5d1d694da5d2 14_25658845_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 25658845 AT A 284 PASS - Del - 1 5 MSH6 child 14_25658845_ATA_MSH6 1 1 1 T 4 T Repeat-mediated b0b3fc32-3289-11e6-a7cf-80090e01a414 15_38728597_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 38728597 AT A 960 PASS - Del - 1 8 MSH6 child 15_38728597_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b0c7699e-3283-11e6-8a7a-74ed1f4bbf9c 7_82580100_GAGAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 7 82580100 GAGA G 360 PASS PCLO Del inframe 3 1 EXO1 child 7_82580100_GAGAG_EXO1 3 3 2 AG 0 - Microhomology-mediated b0d79bee-326e-11e6-9f48-94df41c4520d 12_20204550_GGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 20204550 G GA 480 PASS RP11-664H17.1 Ins intronic 1 8 MSH6 child 12_20204550_GGA_MSH6 1 1 - - - - Ins b0dbdbf6-326d-11e6-92dd-fda8977b3f23 10_83601815_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 83601815 GA G 540 PASS - Del - 1 6 MSH6 child 10_83601815_GAG_MSH6 1 1 1 A 5 A Repeat-mediated b0deb7c2-3290-11e6-b81f-4ee66f39e758 8_65002358_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 65002358 TA T 420 PASS - Del - 1 9 MSH6 child 8_65002358_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b0e3a58e-329f-11e6-ae71-0c5325c9da85 1_75225988_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 75225988 C CA 420 PASS TYW3 Ins intronic 1 7 MSH6 child 1_75225988_CCA_MSH6 1 1 - - - - Ins b0e69a54-3282-11e6-b652-59be9b6d3b88 1_216571634_GAG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 1 216571634 GA G 420 PASS USH2A Del intronic 1 8 POLE child 1_216571634_GAG_POLE 1 1 1 A 7 A Repeat-mediated b0eff1b8-3277-11e6-9074-69cc19a91649 X_38041188_GGA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA X 38041188 G GA 300 PASS SRPX Ins intronic 1 9 EXO1 child X_38041188_GGA_EXO1 1 1 - - - - Ins b0f01762-328e-11e6-8e48-791e0e01a414 8_72179793_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 72179793 GT G 540 PASS EYA1 Del intronic 1 8 MSH6 child 8_72179793_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b0fa55cc-328b-11e6-b4fe-93c36f39e758 12_9969488_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 9969488 AT A 300 PASS - Del - 1 9 MSH6 child 12_9969488_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b0fe4d42-3283-11e6-a853-ed929cdf095d 9_78352357_CTC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 9 78352357 CT C 480 PASS - Del - 1 9 POLE child 9_78352357_CTC_POLE 1 1 1 T 8 T Repeat-mediated b1011c56-328e-11e6-92cf-bf2a0e01a414 6_2652505_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 2652505 CA C 840 PASS - Del - 1 9 MSH6 child 6_2652505_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b105e604-3320-11e6-89bb-56bf70cce0de 13_20299137_CAAAAATAAAAATC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 13 20299137 CAAAAATAAAAAT C 360 PASS PSPC1 Del intronic 12 2 POLE child 13_20299137_CAAAAATAAAAATC_POLE 12 >=10 12 AAAAATAAAAAT 5 A Microhomology-mediated b111dd1a-3294-11e6-9ac5-d165046f68b1 7_22626916_CAC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 7 22626916 CA C 360 PASS - Del - 1 8 NEIL1 child 7_22626916_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated b12263ec-3280-11e6-ae55-ef338e4678dd 14_31808324_GAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 14 31808324 GA G 320 PASS HEATR5A Del intronic 1 9 EXO1 child 14_31808324_GAG_EXO1 1 1 1 A 8 A Repeat-mediated b12a765c-328c-11e6-8770-3e160e01a414 9_84434079_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 84434079 GA G 360 PASS - Del - 1 9 MSH6 child 9_84434079_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b12bb5a4-329a-11e6-bda6-065325c9da85 13_71864779_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 71864779 AT A 840 PASS - Del - 1 5 MSH6 child 13_71864779_ATA_MSH6 1 1 1 T 4 T Repeat-mediated b12cacac-329f-11e6-b696-dd6225c9da85 5_171506874_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 171506874 AT A 660 PASS STK10 Del intronic 1 8 MSH6 child 5_171506874_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b132feec-3289-11e6-a80b-87090e01a414 11_25584473_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 25584473 CT C 420 PASS - Del - 1 9 MSH6 child 11_25584473_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b133b91e-3288-11e6-8358-6179a178171f 17_77439468_CCT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 17 77439468 C CT 420 PASS RBFOX3 Ins intronic 1 9 FANCC child 17_77439468_CCT_FANCC 1 1 - - - - Ins b13acd84-329d-11e6-91d0-016425c9da85 7_13655428_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 13655428 TC T 420 PASS AC011288.2 Del intronic 1 2 MSH6 child 7_13655428_TCT_MSH6 1 1 1 C 1 C Repeat-mediated b13c2dfe-3271-11e6-8f10-bfc27872c165 4_22288008_CAC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 22288008 CA C 780 PASS - Del - 1 9 EXO1 parent 4_22288008_CAC_EXO1 1 1 1 A 8 A Repeat-mediated b13dafe8-328b-11e6-88c1-95c36f39e758 14_28157937_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 28157937 TA T 420 PASS - Del - 1 8 MSH6 child 14_28157937_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b143f1de-3275-11e6-bfb2-2749c225ee11 12_87778811_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 87778811 G GT 600 PASS - Ins - 1 7 MSH6 child 12_87778811_GGT_MSH6 1 1 - - - - Ins b1499202-328d-11e6-919e-92c36f39e758 2_150073211_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 150073211 TC T 480 PASS LYPD6B Del downstream 1 1 MSH6 child 2_150073211_TCT_MSH6 1 1 0 - 0 C None b154ffb0-3284-11e6-a0a8-096ea2c71c31 11_29905802_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 29905802 CA C 480 PASS CTD-3138F19.1 Del downstream 1 7 MSH6 child 11_29905802_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b1567936-3256-11e6-a304-347a7872c165 1_218828828_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 218828828 AC A 660 PASS - Del - 1 5 MSH6 child 1_218828828_ACA_MSH6 1 1 1 C 4 C Repeat-mediated b15db0cc-3290-11e6-9432-c0e56f39e758 5_148872208_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 148872208 TA T 600 PASS CSNK1A1 Del 3prime_UTR_variant 1 4 MSH6 child 5_148872208_TAT_MSH6 1 1 1 A 3 A Repeat-mediated b1694a2e-3270-11e6-b5b8-e0c24a47a305 X_78808680_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 78808680 AT A 540 PASS - Del - 1 7 MSH6 child X_78808680_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b16a1b28-328b-11e6-bd84-429305ad5bc4 1_22232234_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 22232234 TA T 600 PASS HSPG2 Del intronic 1 7 MSH6 child 1_22232234_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b1730518-326c-11e6-b306-b5204b47a305 2_9757390_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 9757390 CA C 900 PASS YWHAQ Del intronic 1 7 MSH6 child 2_9757390_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b174ef0c-3345-11e6-994a-5ae3e9d19ece 11_22875061_GAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 11 22875061 GA G 360 PASS CCDC179 Del intronic 1 7 FANCC child 11_22875061_GAG_FANCC 1 1 1 A 6 A Repeat-mediated b17574c8-3295-11e6-b7af-6ffe6ca5563b 5_162590665_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 5 162590665 TA T 540 PASS - Del - 1 6 POLB child 5_162590665_TAT_POLB 1 1 1 A 5 A Repeat-mediated b1793880-3284-11e6-8ebc-68f1bbe6aa09 18_37977414_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 37977414 GA G 720 PASS - Del - 1 9 MSH6 child 18_37977414_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b180ccd8-3281-11e6-8049-10fc028949d4 1_150983801_TAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 1 150983801 TA T 540 PASS PRUNE Del intronic 1 9 POLM child 1_150983801_TAT_POLM 1 1 1 A 8 A Repeat-mediated b18a8b10-3321-11e6-bda0-2f6519a91649 12_104627729_ATTTAGTA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 12 104627729 ATTTAGT A 820 PASS TXNRD1 Del intronic 6 1 CHK2 child 12_104627729_ATTTAGTA_CHK2 6 6 1 T 0 - Microhomology-mediated b18b01ba-328d-11e6-b9c4-751d0e01a414 5_95300942_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 95300942 GT G 660 PASS ELL2 Del upstream 1 9 MSH6 child 5_95300942_GTG_MSH6 1 1 1 T 8 T Repeat-mediated b18cdff2-3293-11e6-a2c5-65337a852e0e 5_106944712_TTCT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 5 106944712 TTC T 420 PASS EFNA5 Del intronic 2 1 CHK2 child 5_106944712_TTCT_CHK2 2 2 1 T 0 - Microhomology-mediated b18f9358-329f-11e6-aea7-956725c9da85 3_76129516_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 76129516 GT G 720 PASS ROBO2 Del intronic 1 7 MSH6 child 3_76129516_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b199d64a-3274-11e6-a862-bc9becf1e924 1_154697649_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 154697649 AT A 420 PASS KCNN3 Del intronic 1 8 MSH6 child 1_154697649_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b1a7bfb4-3286-11e6-a284-4b89a2c71c31 4_13048218_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 13048218 TA T 360 PASS RNU6-962P Del upstream 1 8 MSH6 child 4_13048218_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b1a8f524-3285-11e6-a7ff-5779a178171f 10_3013906_AGA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 3013906 AG A 540 PASS - Del - 1 1 FANCC child 10_3013906_AGA_FANCC 1 1 0 - 0 G None b1a9b6b0-3273-11e6-b923-6726694da5d2 5_132188450_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 132188450 C CT 300 PASS RNA5SP192 Ins downstream 1 8 MSH6 child 5_132188450_CCT_MSH6 1 1 - - - - Ins b1b2339c-3284-11e6-847a-5cef1da8ec0e 11_74459985_TCGGCGGGGCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 11 74459985 TCGGCGGGGC T 360 PASS RNF169 Del inframe 9 2 EXO1 child 11_74459985_TCGGCGGGGCT_EXO1 9 9 9 CGGCGGGGC 1 CGGCGGGGC Repeat-mediated b1b7048a-331f-11e6-b44e-ec3a66a58581 18_11142233_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 18 11142233 GA G 1020 PASS - Del - 1 6 CHK2 parent 18_11142233_GAG_CHK2 1 1 1 A 5 A Repeat-mediated b1c51b0a-329e-11e6-bc2c-2a5e25c9da85 4_117789972_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 117789972 GT G 420 PASS - Del - 1 5 MSH6 child 4_117789972_GTG_MSH6 1 1 1 T 4 T Repeat-mediated b1c84788-32a0-11e6-bc66-17b4cc638e3d 8_126913121_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 126913121 GT G 420 PASS RNU6-442P Del upstream 1 7 MSH6 child 8_126913121_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b1cb0e88-3281-11e6-9d9d-e3b4e7d0bdd7 2_117954129_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 2 117954129 AT A 420 PASS - Del - 1 9 FANCC child 2_117954129_ATA_FANCC 1 1 1 T 8 T Repeat-mediated b1cbab9a-328b-11e6-919e-92c36f39e758 2_13995179_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 13995179 AT A 540 PASS LINC00276 Del intronic 1 8 MSH6 child 2_13995179_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b1cc24ac-328c-11e6-bd84-429305ad5bc4 1_159549312_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 159549312 AT A 300 PASS - Del - 1 9 MSH6 child 1_159549312_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b1d067d4-328b-11e6-b4fe-93c36f39e758 12_10214150_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 10214150 CA C 420 PASS CLEC9A Del intronic 1 9 MSH6 child 12_10214150_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b1d9938c-328f-11e6-bb1e-70e16f39e758 X_109045643_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 109045643 GA G 420 PASS - Del - 1 9 MSH6 child X_109045643_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b1ec4d90-329b-11e6-9048-b49fcc638e3d 17_80921723_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 80921723 TA T 600 PASS B3GNTL1 Del intronic 1 9 MSH6 child 17_80921723_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b1ed577a-32a1-11e6-94ca-0aaecc638e3d X_146071235_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 146071235 G GA 600 PASS - Ins - 1 8 MSH6 child X_146071235_GGA_MSH6 1 1 - - - - Ins b1f6c906-329f-11e6-aea7-956725c9da85 3_76230943_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 76230943 TA T 540 PASS ROBO2 Del intronic 1 9 MSH6 child 3_76230943_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b203d452-3286-11e6-8b67-086ea2c71c31 1_205605316_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 205605316 AT A 420 PASS ELK4 Del upstream 1 9 MSH6 child 1_205605316_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b20e3b26-3287-11e6-a284-4b89a2c71c31 4_106495548_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 106495548 CA C 420 PASS ARHGEF38 Del intronic 1 9 MSH6 child 4_106495548_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b20fb302-3287-11e6-b2c0-5aa538e8a824 19_33653101_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 19 33653101 GT G 480 PASS WDR88 Del intronic 1 8 NUDT1 parent 19_33653101_GTG_NUDT1 1 1 1 T 7 T Repeat-mediated b210702c-3254-11e6-bf41-357a7872c165 10_77414674_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 77414674 GA G 360 PASS - Del - 1 7 MSH6 child 10_77414674_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b210974a-329b-11e6-aca6-b39fcc638e3d 2_126594634_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 126594634 GT G 360 PASS - Del - 1 4 MSH6 child 2_126594634_GTG_MSH6 1 1 1 T 3 T Repeat-mediated b2110314-3292-11e6-b014-6aecb41afd22 2_22352538_TAT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 2 22352538 TA T 360 PASS AC068490.2 Del intronic 1 7 NEIL1 child 2_22352538_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated b2143bac-3278-11e6-92d2-c259c225ee11 3_174198252_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 174198252 GT G 300 PASS - Del - 1 7 MSH6 child 3_174198252_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b2144d0e-3278-11e6-9972-dabcecf1e924 3_102164665_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 3 102164665 AT A 540 PASS ZPLD1 Del intronic 1 5 NEIL1 child 3_102164665_ATA_NEIL1 1 1 1 T 4 T Repeat-mediated b214e38c-328b-11e6-bdca-61cc977b3f23 10_20913393_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 10 20913393 TA T 540 PASS - Del - 1 9 NEIL1 child 10_20913393_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated b21edab4-32a3-11e6-a04f-c66a25c9da85 6_103402421_CCTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 103402421 C CTG 480 PASS - Ins - 2 7 MSH6 child 6_103402421_CCTG_MSH6 2 2 - - - - Ins b21f9458-3277-11e6-9e0f-7959cab49462 7_148475395_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 148475395 CT C 600 PASS CUL1 Del intronic 1 7 MSH6 child 7_148475395_CTC_MSH6 1 1 1 T 6 T Repeat-mediated b224ab8a-3283-11e6-8a7a-74ed1f4bbf9c 7_83058062_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 7 83058062 AT A 720 PASS SEMA3E Del intronic 1 7 EXO1 child 7_83058062_ATA_EXO1 1 1 1 T 6 T Repeat-mediated b22529d6-328b-11e6-919e-92c36f39e758 2_14092959_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 14092959 GA G 257 PASS LINC00276 Del intronic 1 8 MSH6 child 2_14092959_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b22ef1cc-3278-11e6-a391-f6d67d6a9fc7 6_80947599_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 80947599 TA T 840 PASS BCKDHB Del intronic 1 8 MSH6 child 6_80947599_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b230b6c6-3258-11e6-acc5-308412ae24cf 5_169324198_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 169324198 CT C 300 PASS DOCK2 Del intronic 1 9 MSH6 child 5_169324198_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b2351d08-3288-11e6-a8ac-a28ea2c71c31 3_103268831_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 103268831 GA G 540 PASS - Del - 1 7 MSH6 child 3_103268831_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b23b32a4-3253-11e6-bf41-357a7872c165 10_12014380_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 12014380 CT C 600 PASS UPF2 Del intronic 1 8 MSH6 child 10_12014380_CTC_MSH6 1 1 1 T 7 T Repeat-mediated b24b8a2a-3297-11e6-9985-7c540d016689 6_145162688_GGTGT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 145162688 G GTGT 420 PASS UTRN Ins intronic 3 0 NUDT1 child 6_145162688_GGTGT_NUDT1 3 3 - - - - Ins b26676dc-3274-11e6-a862-bc9becf1e924 1_154856307_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 154856307 AG A 360 PASS - Del - 1 7 MSH6 child 1_154856307_AGA_MSH6 1 1 1 G 6 G Repeat-mediated b26de88e-3271-11e6-8454-c65566a58581 13_85019163_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 13 85019163 AT A 420 PASS - Del - 1 9 FANCC child 13_85019163_ATA_FANCC 1 1 1 T 8 T Repeat-mediated b26e3386-3274-11e6-ab69-1c1607e9a829 9_5300455_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 5300455 TA T 540 PASS RLN2 Del intronic 1 9 MSH6 child 9_5300455_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b26eea5a-3293-11e6-9458-5f42ead19ece 2_159685837_CTGTTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 2 159685837 CTGTT C 540 PASS - Del - 4 1 NUDT1 child 2_159685837_CTGTTC_NUDT1 4 4 2 TG 0 - Microhomology-mediated b2766744-3275-11e6-a5f8-cc8730158702 20_23037331_CCA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 20 23037331 C CA 420 PASS - Ins - 1 9 POLB child 20_23037331_CCA_POLB 1 1 - - - - Ins b27c5ba8-326c-11e6-9fba-41ebd8b4fa2c 11_6949266_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 6949266 CT C 480 PASS ZNF215 Del intronic 1 9 MSH6 child 11_6949266_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b281f076-3290-11e6-8d00-b1b0e7d0bdd7 5_44071928_ACTA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 44071928 ACT A 300 PASS - Del - 2 2 FANCC child 5_44071928_ACTA_FANCC 2 2 2 CT 1 CT Repeat-mediated b2823f76-3255-11e6-89d3-d29498816cf3 2_231581877_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 231581877 AT A 660 PASS CAB39 Del intronic 1 9 MSH6 child 2_231581877_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b2876c7c-3286-11e6-a284-4b89a2c71c31 4_13630992_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 13630992 CA C 900 PASS BOD1L1 Del upstream 1 7 MSH6 child 4_13630992_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b2898282-3286-11e6-a5b3-3f1ebce6aa09 7_23320126_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 23320126 AT A 480 PASS - Del - 1 9 MSH6 child 7_23320126_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b291dae4-3322-11e6-917a-b666694da5d2 11_76045126_TCAAAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 11 76045126 TCAAA T 300 PASS - Del - 4 2 EXO1 child 11_76045126_TCAAAT_EXO1 4 4 4 CAAA 1 CAAA Repeat-mediated b29bd6b4-3275-11e6-8fc6-c022c7271a47 4_134417368_TTATATATATATGTATAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 4 134417368 T TATATATATATGTATAC 300 PASS - Ins - 16 1 POLB child 4_134417368_TTATATATATATGTATAC_POLB 16 >=10 - - - - Ins b29ccd6c-3293-11e6-b574-0154e7d0bdd7 20_510275_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 20 510275 GA G 720 PASS CSNK2A1 Del intronic 1 9 FANCC child 20_510275_GAG_FANCC 1 1 1 A 8 A Repeat-mediated b2a18b62-328f-11e6-9230-fb250e01a414 3_119329925_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 119329925 TA T 360 PASS PLA1A Del intronic 1 7 MSH6 child 3_119329925_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b2a3b8e2-3276-11e6-8c34-46e27872c165 5_89759915_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 89759915 TC T 420 PASS MBLAC2 Del intronic 1 4 MSH6 child 5_89759915_TCT_MSH6 1 1 1 C 3 C Repeat-mediated b2a51e7c-3289-11e6-9c89-8d090e01a414 1_23010564_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 23010564 CA C 360 PASS - Del - 1 9 MSH6 child 1_23010564_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b2a552e0-3273-11e6-b332-88ba7d6a9fc7 15_69820952_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 69820952 TA T 360 PASS RP11-279F6.1 Del intronic 1 5 MSH6 child 15_69820952_TAT_MSH6 1 1 1 A 4 A Repeat-mediated b2a99cee-3271-11e6-ae57-cc5566a58581 18_77969935_TAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 18 77969935 TA T 360 PASS PARD6G Del intronic 1 9 FANCC child 18_77969935_TAT_FANCC 1 1 1 A 8 A Repeat-mediated b2ab47b4-3254-11e6-b4d0-327a7872c165 11_76164603_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 76164603 GT G 300 PASS C11orf30 Del intronic 1 9 MSH6 child 11_76164603_GTG_MSH6 1 1 1 T 8 T Repeat-mediated b2ae1860-3289-11e6-a100-84090e01a414 18_31086259_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 31086259 GA G 420 PASS - Del - 1 6 MSH6 child 18_31086259_GAG_MSH6 1 1 1 A 5 A Repeat-mediated b2b61e36-3287-11e6-b32c-fd87a2c71c31 5_161840911_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 161840911 AT A 360 PASS - Del - 1 8 MSH6 child 5_161840911_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b2c05548-3289-11e6-a100-84090e01a414 18_31156329_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 31156329 CT C 300 PASS ASXL3 Del upstream 1 9 MSH6 child 18_31156329_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b2c0606e-3299-11e6-8de1-2d9afaf1a024 7_110045250_TCT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 110045250 TC T 600 PASS - Del - 1 3 CHK2 child 7_110045250_TCT_CHK2 1 1 1 C 2 C Repeat-mediated b2c1e19a-3277-11e6-8c34-46e27872c165 5_165305067_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 165305067 GT G 524 PASS - Del - 1 9 MSH6 child 5_165305067_GTG_MSH6 1 1 1 T 8 T Repeat-mediated b2c3f9d2-328e-11e6-bc12-79ae12ae24cf 8_127919827_CAC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 8 127919827 CA C 300 PASS PCAT1 Del intronic 1 9 CHK2 child 8_127919827_CAC_CHK2 1 1 1 A 8 A Repeat-mediated b2d63f50-3286-11e6-8404-8e1fbce6aa09 8_17611025_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 17611025 AT A 720 PASS MTUS1 Del intronic 1 9 MSH6 child 8_17611025_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b2d833c2-3287-11e6-afcf-0311bce6aa09 9_79181949_TTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 79181949 T TC 300 PASS - Ins - 1 1 MSH6 child 9_79181949_TTC_MSH6 1 1 - - - - Ins b2dd79aa-327c-11e6-a25d-ed8590e2c2e6 13_66876593_ATCTA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 13 66876593 ATCT A 600 PASS PCDH9 Del downstream 3 2 NUDT1 child 13_66876593_ATCTA_NUDT1 3 3 3 TCT 1 TCT Repeat-mediated b2e2b8fc-3254-11e6-b4d0-327a7872c165 11_76201277_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 76201277 TA T 780 PASS C11orf30 Del intronic 1 9 MSH6 child 11_76201277_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b2e61c1c-3291-11e6-b01f-c8b64430f757 6_116716736_CTC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 6 116716736 CT C 600 PASS DSE Del intronic 1 9 POLE child 6_116716736_CTC_POLE 1 1 1 T 8 T Repeat-mediated b2efdbe8-328d-11e6-bfa2-581f0e01a414 7_64705189_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 64705189 TA T 300 PASS - Del - 1 9 MSH6 child 7_64705189_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b2f7a060-3320-11e6-8317-80eabbe6aa09 12_77475250_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 12 77475250 AT A 480 PASS - Del - 1 8 POLE child 12_77475250_ATA_POLE 1 1 1 T 7 T Repeat-mediated b3053176-328a-11e6-b020-3791e7d0bdd7 11_26372006_CTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 11 26372006 CT C 480 PASS ANO3 Del intronic 1 3 POLM child 11_26372006_CTC_POLM 1 1 1 T 2 T Repeat-mediated b317c63c-3259-11e6-91d3-a68412ae24cf 7_80388247_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 80388247 G GA 300 PASS SEMA3C Ins intronic 1 5 MSH6 child 7_80388247_GGA_MSH6 1 1 - - - - Ins b31a22ee-328e-11e6-b9c4-751d0e01a414 5_166817990_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 166817990 AT A 300 PASS TENM2 Del intronic 1 8 MSH6 child 5_166817990_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b31d91e2-3291-11e6-9401-04ed6f39e758 3_122158214_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 122158214 GT G 480 PASS KPNA1 Del intronic 1 5 MSH6 child 3_122158214_GTG_MSH6 1 1 1 T 4 T Repeat-mediated b31f2870-3284-11e6-8b67-086ea2c71c31 1_24929861_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 24929861 TA T 300 PASS NCMAP Del intronic 1 9 MSH6 child 1_24929861_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b31f7d48-3275-11e6-972b-b65bfc77b11e 1_185216996_GTG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 185216996 GT G 540 PASS SWT1 Del intronic 1 9 CHK2 child 1_185216996_GTG_CHK2 1 1 1 T 8 T Repeat-mediated b326e702-3286-11e6-8358-6179a178171f 17_52182458_GAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 17 52182458 GA G 360 PASS - Del - 1 7 FANCC child 17_52182458_GAG_FANCC 1 1 1 A 6 A Repeat-mediated b32a9718-328a-11e6-9c89-8d090e01a414 1_78353313_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 78353313 AT A 414 PASS NEXN Del upstream 1 9 MSH6 child 1_78353313_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b32f69bc-328c-11e6-919e-92c36f39e758 2_79263145_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 79263145 TA T 360 PASS - Del - 1 6 MSH6 child 2_79263145_TAT_MSH6 1 1 1 A 5 A Repeat-mediated b32fb9d0-3278-11e6-b7b5-ce91a78019ab 5_157504315_CTC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 157504315 CT C 420 PASS - Del - 1 9 NEIL1 child 5_157504315_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated b3321898-327c-11e6-864f-47be4dc77248 17_40728037_TCAAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 17 40728037 TCAA T 420 PASS FAM134C Del downstream 3 7 NUDT1 child 17_40728037_TCAAT_NUDT1 3 3 3 CAA 6 CAA Repeat-mediated b33f5f64-328e-11e6-9d97-efe56f39e758 4_5796987_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 5796987 AT A 540 PASS EVC Del intronic 1 6 MSH6 child 4_5796987_ATA_MSH6 1 1 1 T 5 T Repeat-mediated b3424cee-3287-11e6-b093-c9c7b0dab373 2_20698882_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 20698882 C CT 600 PASS AC012065.4 Ins downstream 1 7 MSH6 child 2_20698882_CCT_MSH6 1 1 - - - - Ins b3472072-329e-11e6-bc2c-2a5e25c9da85 4_118212295_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 118212295 CT C 540 PASS - Del - 1 6 MSH6 child 4_118212295_CTC_MSH6 1 1 1 T 5 T Repeat-mediated b34a3fb2-3287-11e6-a21c-b819bce6aa09 X_117619596_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 117619596 CA C 458 PASS - Del - 1 7 MSH6 child X_117619596_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b34d1454-329a-11e6-aca6-b39fcc638e3d 2_62203297_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 62203297 TA T 840 PASS COMMD1 Del intronic 1 8 MSH6 child 2_62203297_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b34da930-3274-11e6-8e2a-7f03630e6611 X_68279603_GTCG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA X 68279603 GTC G 540 PASS - Del - 2 2 FANCC child X_68279603_GTCG_FANCC 2 2 2 TC 1 TC Repeat-mediated b3573060-3272-11e6-9e18-3a69671699ea 10_22691213_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 22691213 TA T 540 PASS SPAG6 Del intronic 1 9 MSH6 child 10_22691213_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b3758afa-32a0-11e6-aea7-956725c9da85 3_150855965_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 150855965 CT C 660 PASS MED12L Del intronic 1 9 MSH6 child 3_150855965_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b37bf182-3283-11e6-9881-48b254de4fc4 5_143946450_GGGCTTCAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 5 143946450 GGGCTTCA G 480 PASS - Del - 7 1 FANCC child 5_143946450_GGGCTTCAG_FANCC 7 7 2 GG 0 - Microhomology-mediated b37eb100-3275-11e6-a924-afbd7d6a9fc7 2_197655610_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 197655610 TA T 300 PASS GTF3C3 Del intronic 1 9 EXO1 child 2_197655610_TAT_EXO1 1 1 1 A 8 A Repeat-mediated b38251ac-3289-11e6-a32d-75090e01a414 14_48738510_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 48738510 GA G 480 PASS - Del - 1 8 MSH6 child 14_48738510_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b38a9f54-3272-11e6-aa3b-ca60a178171f 13_39218435_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 39218435 CT C 517 PASS - Del - 1 8 MSH6 child 13_39218435_CTC_MSH6 1 1 1 T 7 T Repeat-mediated b391e248-327a-11e6-ab1d-16d9ecf1e924 20_56982063_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 56982063 GA G 840 PASS VAPB Del intronic 1 6 MSH6 child 20_56982063_GAG_MSH6 1 1 1 A 5 A Repeat-mediated b3949648-328c-11e6-9453-299c20e7b7a8 2_182305808_AAG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 2 182305808 A AG 300 PASS - Ins - 1 5 POLE child 2_182305808_AAG_POLE 1 1 - - - - Ins b39ae01a-3274-11e6-8d20-7365cde16804 5_96164548_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 96164548 CT C 420 PASS - Del - 1 9 MSH6 parent 5_96164548_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b39b76f6-329c-11e6-ae71-0c5325c9da85 1_163278988_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 163278988 GA G 600 PASS NUF2 Del intronic 1 8 MSH6 child 1_163278988_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b39df1b6-327d-11e6-8cce-e78590e2c2e6 12_119317932_GAG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 12 119317932 GA G 420 PASS RP11-357K6.3 Del intronic 1 6 NUDT1 child 12_119317932_GAG_NUDT1 1 1 1 A 5 A Repeat-mediated b3a0bff0-3272-11e6-8f62-6fa664f80bad 7_57512883_CAC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 7 57512883 CA C 480 PASS ZNF716 Del intronic 1 7 EXO1 parent 7_57512883_CAC_EXO1 1 1 1 A 6 A Repeat-mediated b3a2a224-32a0-11e6-b696-dd6225c9da85 5_50973764_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 50973764 G GA 540 PASS - Ins - 1 7 MSH6 child 5_50973764_GGA_MSH6 1 1 - - - - Ins b3ad6aea-3284-11e6-9daa-026ea2c71c31 14_53638466_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 53638466 CA C 420 PASS AL163953.3 Del intronic 1 7 MSH6 child 14_53638466_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b3b45960-329b-11e6-b549-1e5325c9da85 10_110903915_GGAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 110903915 GGA G 360 PASS - Del - 2 8 MSH6 child 10_110903915_GGAG_MSH6 2 2 2 GA 7 GA Repeat-mediated b3b73afe-328c-11e6-b43c-7ec36f39e758 16_70584105_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 70584105 TA T 420 PASS SF3B3 Del intronic 1 7 MSH6 child 16_70584105_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b3d70cec-3275-11e6-83cd-a472a178171f 4_43933052_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 43933052 TA T 660 PASS - Del - 1 7 MSH6 child 4_43933052_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b3da8bac-3283-11e6-a072-0fc02daed38e 7_103185360_GTCTG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 7 103185360 GTCT G 720 PASS RELN Del intronic 3 1 POLB child 7_103185360_GTCTG_POLB 3 3 1 T 0 - Microhomology-mediated b3e364c8-328f-11e6-9230-fb250e01a414 3_119583018_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 119583018 AT A 480 PASS GSK3B Del intronic 1 8 MSH6 child 3_119583018_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b3e87670-328a-11e6-8459-82090e01a414 12_84982920_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 84982920 GA G 600 PASS - Del - 1 9 MSH6 child 12_84982920_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b3ec21e2-3273-11e6-826a-adb6fa52e078 17_76882813_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 76882813 CT C 540 PASS TIMP2 Del intronic 1 9 MSH6 child 17_76882813_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b3ed014c-3274-11e6-972b-b65bfc77b11e 1_110888907_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 110888907 CT C 300 PASS RBM15 Del intronic 1 7 CHK2 child 1_110888907_CTC_CHK2 1 1 1 T 6 T Repeat-mediated b3f0eaca-3290-11e6-8f31-bfe16f39e758 9_82047336_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 82047336 G GA 480 PASS - Ins - 1 6 MSH6 child 9_82047336_GGA_MSH6 1 1 - - - - Ins b3f13482-329d-11e6-bc66-17b4cc638e3d 8_15403963_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 15403963 GT G 960 PASS TUSC3 Del intronic 1 8 MSH6 child 8_15403963_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b3f5c882-3287-11e6-a8a6-92e95d753391 10_15684127_GAG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 10 15684127 GA G 360 PASS ITGA8 Del intronic 1 9 POLE child 10_15684127_GAG_POLE 1 1 1 A 8 A Repeat-mediated b3fbfb90-3281-11e6-9d9d-e3b4e7d0bdd7 2_118825640_TGTTTCTCAGAACATATCCCCATGGTTAAGTGATGTGTGT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 2 118825640 TGTTTCTCAGAACATATCCCCATGGTTAAGTGATGTGTG T 360 PASS - Del - 38 1 FANCC child 2_118825640_TGTTTCTCAGAACATATCCCCATGGTTAAGTGATGTGTGT_FANCC 38 >=10 3 GTT 0 - Microhomology-mediated b3fe3cd0-328a-11e6-baf1-58044530f757 3_83754316_AAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 3 83754316 A AT 360 PASS - Ins - 1 5 EXO1 child 3_83754316_AAT_EXO1 1 1 - - - - Ins b40056f6-3284-11e6-931c-baa482d12d16 3_145131302_CTGTTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 3 145131302 CTGTT C 300 PASS - Del - 4 2 FANCC child 3_145131302_CTGTTC_FANCC 4 4 4 TGTT 1 TGTT Repeat-mediated b4084b8c-3256-11e6-9d15-298312ae24cf X_42525040_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 42525040 CT C 540 PASS RP1-154K9.2 Del intronic 1 9 MSH6 child X_42525040_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b409f40a-3292-11e6-b77d-2eef6f39e758 6_152187471_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 152187471 CT C 360 PASS ESR1 Del intronic 1 9 MSH6 child 6_152187471_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b40d9444-3273-11e6-879d-c5bc6de4ab00 14_72939404_CGC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 14 72939404 CG C 300 PASS RGS6 Del intronic 1 8 POLB child 14_72939404_CGC_POLB 1 1 1 G 7 G Repeat-mediated b41d64d6-328d-11e6-ab9a-705238e8a824 18_8607494_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 18 8607494 AT A 360 PASS RAB12 Del upstream 1 4 FANCC child 18_8607494_ATA_FANCC 1 1 1 T 3 T Repeat-mediated b41d93ba-328e-11e6-903e-aa6919a91649 16_22171796_AGA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 16 22171796 AG A 300 PASS VWA3A Del downstream 1 1 NEIL1 child 16_22171796_AGA_NEIL1 1 1 0 - 0 G None b43332b0-3289-11e6-815f-e4cd191589db 14_69164495_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 14 69164495 GA G 300 PASS RAD51B Del intronic 1 7 FANCC child 14_69164495_GAG_FANCC 1 1 1 A 6 A Repeat-mediated b435d734-3290-11e6-92cf-bf2a0e01a414 6_121691413_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 121691413 CA C 420 PASS - Del - 1 7 MSH6 child 6_121691413_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b43cfeec-3286-11e6-a5b3-3f1ebce6aa09 7_23760098_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 23760098 AT A 720 PASS STK31 Del intronic 1 9 MSH6 child 7_23760098_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b4425c66-327c-11e6-8e5f-c9a0aa716c52 14_44049600_AACA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 14 44049600 AAC A 540 PASS - Del - 2 2 POLB parent 14_44049600_AACA_POLB 2 2 2 AC 1 AC Repeat-mediated b445271a-3273-11e6-9e18-3a69671699ea 10_89719195_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 89719195 GA G 600 PASS PTEN Del intronic 1 9 MSH6 child 10_89719195_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b4538548-329c-11e6-a5cf-e5abcc638e3d 9_32804366_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 32804366 GA G 780 PASS - Del - 1 9 MSH6 child 9_32804366_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b4568a2e-3272-11e6-b8ae-92c57872c165 14_39769365_TACT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 39769365 TAC T 540 PASS CTAGE5 Del intronic 2 5 MSH6 child 14_39769365_TACT_MSH6 2 2 2 AC 4 AC Repeat-mediated b4580ab6-329a-11e6-9048-b49fcc638e3d 17_37106430_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 37106430 TC T 540 PASS FBXO47 Del intronic 1 6 MSH6 child 17_37106430_TCT_MSH6 1 1 1 C 5 C Repeat-mediated b45994d6-328f-11e6-9230-fb250e01a414 3_119712736_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 119712736 AT A 360 PASS GSK3B Del intronic 1 8 MSH6 child 3_119712736_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b46195a6-3270-11e6-9309-bdc34a47a305 8_57131643_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 57131643 CA C 300 PASS CHCHD7 Del downstream 1 9 MSH6 child 8_57131643_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b46a0638-3323-11e6-a5dc-75b8cde16804 1_182386576_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 182386576 AT A 720 PASS LINC00272 Del downstream 1 9 EXO1 child 1_182386576_ATA_EXO1 1 1 1 T 8 T Repeat-mediated b46aac32-326f-11e6-b89d-b2d6b0dab373 4_14099076_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 14099076 CT C 300 PASS - Del - 1 5 MSH6 child 4_14099076_CTC_MSH6 1 1 1 T 4 T Repeat-mediated b46e3afc-329a-11e6-b549-1e5325c9da85 10_55291133_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 55291133 TA T 480 PASS - Del - 1 8 MSH6 child 10_55291133_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b470f8d2-3259-11e6-91d3-a68412ae24cf 7_80748714_CCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 80748714 C CT 420 PASS - Ins - 1 2 MSH6 child 7_80748714_CCT_MSH6 1 1 - - - - Ins b4789f22-3274-11e6-a862-bc9becf1e924 1_155354655_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 155354655 CT C 660 PASS ASH1L Del intronic 1 8 MSH6 child 1_155354655_CTC_MSH6 1 1 1 T 7 T Repeat-mediated b47cd862-3288-11e6-9a8e-d2b1f6dffcf6 1_247490364_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 247490364 CT C 360 PASS ZNF496 Del intronic 1 9 NUDT1 parent 1_247490364_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated b48a787a-329a-11e6-aca6-b39fcc638e3d 2_62448648_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 62448648 TA T 480 PASS B3GNT2 Del intronic 1 8 MSH6 child 2_62448648_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b48c4636-328c-11e6-a80b-87090e01a414 11_77536021_TTTTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 77536021 T TTTG 300 PASS RSF1 Ins upstream 3 3 MSH6 child 11_77536021_TTTTG_MSH6 3 3 - - - - Ins b49373ac-3278-11e6-a391-f6d67d6a9fc7 6_81926498_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 81926498 TA T 480 PASS - Del - 1 5 MSH6 child 6_81926498_TAT_MSH6 1 1 1 A 4 A Repeat-mediated b4a38e40-3273-11e6-8418-1c5942c4520d 3_153140654_AAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 153140654 A AG 420 PASS - Ins - 1 0 MSH6 child 3_153140654_AAG_MSH6 1 1 - - - - Ins b4a9d3e4-3292-11e6-be55-fcd76ca5563b 14_46176841_AATTTTCTTGGAATGATTTATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 14 46176841 AATTTTCTTGGAATGATTTAT A 660 PASS RP11-369C8.1 Del intronic 20 1 POLB child 14_46176841_AATTTTCTTGGAATGATTTATA_POLB 20 >=10 5 ATTTT 1 T Microhomology-mediated b4ace170-3291-11e6-8d18-13cc0d01a414 20_1868217_ATCCTGCTTCCTGTTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 1868217 ATCCTGCTTCCTGTT A 420 PASS - Del - 14 1 MSH6 child 20_1868217_ATCCTGCTTCCTGTTA_MSH6 14 >=10 12 TCCTGCTTCCTG 0 - Microhomology-mediated b4b080f6-328b-11e6-b686-d35a51c54cdd 4_131709669_AAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 4 131709669 A AT 600 PASS - Ins - 1 1 EXO1 child 4_131709669_AAT_EXO1 1 1 - - - - Ins b4b60b58-3258-11e6-acc5-308412ae24cf 5_170630603_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 170630603 TA T 540 PASS RANBP17 Del intronic 1 9 MSH6 child 5_170630603_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b4b86396-3274-11e6-af01-f818cd638e3d 15_83995751_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 15 83995751 CA C 480 PASS - Del - 1 8 EXO1 child 15_83995751_CAC_EXO1 1 1 1 A 7 A Repeat-mediated b4b91502-3288-11e6-a21c-b819bce6aa09 X_88286224_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 88286224 G GT 540 PASS - Ins - 1 6 MSH6 child X_88286224_GGT_MSH6 1 1 - - - - Ins b4bb92d0-328f-11e6-9230-fb250e01a414 3_119841830_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 119841830 GT G 420 PASS RP11-18H7.1 Del intronic 1 8 MSH6 child 3_119841830_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b4bbd6b2-3282-11e6-8c30-2208694da5d2 4_150247902_GTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 4 150247902 GT G 360 PASS - Del - 1 6 NEIL1 child 4_150247902_GTG_NEIL1 1 1 1 T 5 T Repeat-mediated b4bf2712-32a1-11e6-a04f-c66a25c9da85 6_156196851_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 156196851 TA T 420 PASS - Del - 1 8 MSH6 child 6_156196851_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b4c134ea-3287-11e6-8bbd-f88da2c71c31 21_19727073_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 19727073 GA G 360 PASS TMPRSS15 Del intronic 1 7 MSH6 child 21_19727073_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b4c3b6d4-328c-11e6-bfa2-581f0e01a414 7_4066214_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 4066214 GA G 360 PASS SDK1 Del intronic 1 9 MSH6 child 7_4066214_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b4cafaee-329a-11e6-bda6-065325c9da85 13_72728766_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 72728766 GA G 600 PASS - Del - 1 9 MSH6 child 13_72728766_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b4d09a7a-3273-11e6-946d-9c2bc7271a47 2_55887366_GAG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 2 55887366 GA G 480 PASS PNPT1 Del intronic 1 6 POLB child 2_55887366_GAG_POLB 1 1 1 A 5 A Repeat-mediated b4e41a9a-3256-11e6-a39a-dc8512ae24cf 8_3973019_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 3973019 TA T 360 PASS CSMD1 Del intronic 1 5 MSH6 child 8_3973019_TAT_MSH6 1 1 1 A 4 A Repeat-mediated b502e274-3286-11e6-a5b3-3f1ebce6aa09 7_24066883_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 24066883 TA T 300 PASS - Del - 1 9 MSH6 child 7_24066883_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b5042516-3255-11e6-b91e-9b5d2aaffa45 11_127543754_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 11 127543754 AT A 480 PASS - Del - 1 9 POLM child 11_127543754_ATA_POLM 1 1 1 T 8 T Repeat-mediated b5092d82-3281-11e6-9b68-79e41da8ec0e 2_96487635_GTG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 96487635 GT G 366 PASS - Del - 1 7 EXO1 child 2_96487635_GTG_EXO1 1 1 1 T 6 T Repeat-mediated b516dd9e-3284-11e6-a1ac-fd6da2c71c31 13_46007012_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 46007012 CA C 600 PASS - Del - 1 9 MSH6 child 13_46007012_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b52136c8-3288-11e6-a8ac-a28ea2c71c31 3_104512245_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 104512245 CT C 540 PASS - Del - 1 8 MSH6 child 3_104512245_CTC_MSH6 1 1 1 T 7 T Repeat-mediated b52252f4-3320-11e6-be60-326519a91649 15_43402263_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 15 43402263 AT A 651 PASS UBR1 Del upstream 1 7 CHK2 child 15_43402263_ATA_CHK2 1 1 1 T 6 T Repeat-mediated b524b7f0-326d-11e6-9fba-41ebd8b4fa2c 11_44049717_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 44049717 TA T 540 PASS - Del - 1 8 MSH6 child 11_44049717_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b539e27a-3280-11e6-9e54-079882d12d16 12_30926196_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 12 30926196 GA G 420 PASS RP11-77I22.2 Del intronic 1 9 FANCC child 12_30926196_GAG_FANCC 1 1 1 A 8 A Repeat-mediated b5439732-328c-11e6-919e-92c36f39e758 2_79996329_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 79996329 TA T 480 PASS CTNNA2 Del intronic 1 6 MSH6 child 2_79996329_TAT_MSH6 1 1 1 A 5 A Repeat-mediated b5444076-3276-11e6-92d2-c259c225ee11 3_29004835_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 29004835 TA T 360 PASS - Del - 1 8 MSH6 child 3_29004835_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b54a6cb0-328c-11e6-ae46-59cc977b3f23 12_90523282_CTGTTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 12 90523282 CTGTT C 780 PASS - Del - 4 1 NEIL1 child 12_90523282_CTGTTC_NEIL1 4 4 3 TGT 0 - Microhomology-mediated b5505ba8-3281-11e6-b391-7d482a2d4995 12_101660249_CAC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 12 101660249 CA C 360 PASS - Del - 1 9 NUDT1 child 12_101660249_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated b55132fc-3273-11e6-975f-8246cab49462 16_76848290_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 76848290 GT G 540 PASS CTD-2336H13.2 Del intronic 1 8 MSH6 child 16_76848290_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b56bb324-327e-11e6-9cfc-ec8590e2c2e6 1_178581046_GTG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 1 178581046 GT G 1020 PASS - Del - 1 9 NUDT1 child 1_178581046_GTG_NUDT1 1 1 1 T 8 T Repeat-mediated b56d39c8-3289-11e6-8f9e-1f8aa178171f 4_72510075_TAATGGGAGATCT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 4 72510075 TAATGGGAGATC T 540 PASS - Del - 11 1 FANCC child 4_72510075_TAATGGGAGATCT_FANCC 11 >=10 5 AATGG 0 - Microhomology-mediated b56ddffc-3286-11e6-817a-6b15987b3f23 8_90790117_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 8 90790117 GA G 540 PASS RIPK2 Del intronic 1 9 NEIL1 parent 8_90790117_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated b56f960c-328c-11e6-8952-77c36f39e758 10_73867415_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 73867415 CA C 720 PASS ASCC1 Del intronic 1 7 MSH6 child 10_73867415_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b570f626-327a-11e6-ab1d-16d9ecf1e924 20_57547033_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 57547033 CT C 780 PASS - Del - 1 7 MSH6 child 20_57547033_CTC_MSH6 1 1 1 T 6 T Repeat-mediated b5739e72-3283-11e6-8422-6218038949d4 22_30969942_CTTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 22 30969942 CTT C 480 PASS PES1 Del downstream 2 3 POLM child 22_30969942_CTTC_POLM 2 2 1 T 0 - Microhomology-mediated b57b4dd0-3287-11e6-9a8e-d2b1f6dffcf6 1_107165144_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 107165144 TA T 480 PASS - Del - 1 9 NUDT1 parent 1_107165144_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated b57fe1b2-3271-11e6-abaf-4642cab49462 6_15077975_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 15077975 GT G 300 PASS RP11-146I2.1 Del intronic 1 7 MSH6 child 6_15077975_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b5801bf4-3281-11e6-8597-c8186ee4ab00 8_59354854_TATCT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 8 59354854 TATC T 600 PASS UBXN2B Del intronic 3 1 POLB parent 8_59354854_TATCT_POLB 3 3 2 AT 0 - Microhomology-mediated b59451c0-3275-11e6-a71d-236235cec73b X_31118834_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 31118834 TA T 540 PASS - Del - 1 9 MSH6 child X_31118834_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b59e603e-3284-11e6-96d6-e945ee3c4f5d 3_80163200_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 3 80163200 TA T 600 PASS - Del - 1 5 POLB child 3_80163200_TAT_POLB 1 1 1 A 4 A Repeat-mediated b5a370d0-3287-11e6-a5b3-3f1ebce6aa09 7_118350026_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 118350026 GA G 720 PASS - Del - 1 9 MSH6 child 7_118350026_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b5b0a9b0-3284-11e6-9f05-70ef1da8ec0e 10_86541011_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 86541011 AT A 300 PASS - Del - 1 9 EXO1 child 10_86541011_ATA_EXO1 1 1 1 T 8 T Repeat-mediated b5b6de26-3274-11e6-b747-d9deed3c4f5d X_94582910_GTG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA X 94582910 GT G 600 PASS - Del - 1 7 MSH6 parent X_94582910_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b5c8d592-3290-11e6-b6a6-1f1e0e01a414 4_64756465_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 64756465 A AT 291 PASS - Ins - 1 8 MSH6 child 4_64756465_AAT_MSH6 1 1 - - - - Ins b5cb4208-326f-11e6-bfba-13bf4a47a305 9_124677989_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 124677989 AT A 480 PASS TTLL11 Del intronic 1 7 MSH6 child 9_124677989_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b5d22d1e-3285-11e6-be43-0a6ea2c71c31 10_112208156_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 112208156 GT G 480 PASS RP11-525A16.4 Del intronic 1 5 MSH6 child 10_112208156_GTG_MSH6 1 1 1 T 4 T Repeat-mediated b5d55bca-3289-11e6-a284-4b89a2c71c31 4_93968426_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 93968426 G GA 840 PASS GRID2 Ins intronic 1 5 MSH6 child 4_93968426_GGA_MSH6 1 1 - - - - Ins b5d59f24-3287-11e6-a5b3-3f1ebce6aa09 7_118528848_TTAAAAAGCTTCTAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 118528848 TTAAAAAGCTTCTA T 840 PASS - Del - 13 1 MSH6 child 7_118528848_TTAAAAAGCTTCTAT_MSH6 13 >=10 1 T 0 - Microhomology-mediated b5eb992a-3258-11e6-aa0b-72f912ae24cf 8_56342320_GGAAAGAA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 56342320 G GAAAGAA 420 PASS XKR4 Ins intronic 6 1 POLB child 8_56342320_GGAAAGAA_POLB 6 6 - - - - Ins b5ece99a-328c-11e6-ae53-96c36f39e758 15_67884041_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 67884041 TG T 540 PASS MAP2K5 Del intronic 1 5 MSH6 child 15_67884041_TGT_MSH6 1 1 1 G 4 G Repeat-mediated b5edbafc-3253-11e6-8ebc-3ef212ae24cf 15_24810736_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 24810736 CA C 720 PASS PWRN1 Del intronic 1 9 MSH6 child 15_24810736_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b5f2aaf8-329e-11e6-9c44-d26625c9da85 21_26961432_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 26961432 GA G 720 PASS MRPL39 Del intronic 1 7 MSH6 child 21_26961432_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b5f4f11c-3255-11e6-99c2-78832aaffa45 1_112404736_ACTA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 1 112404736 ACT A 600 PASS KCND3 Del intronic 2 2 POLM child 1_112404736_ACTA_POLM 2 2 2 CT 1 CT Repeat-mediated b5feddfc-3328-11e6-868e-d16670cce0de 6_125632819_CTC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 125632819 CT C 540 PASS - Del - 1 7 EXO1 child 6_125632819_CTC_EXO1 1 1 1 T 6 T Repeat-mediated b600ac3a-3284-11e6-821e-69f1bbe6aa09 16_29768188_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 29768188 TA T 540 PASS - Del - 1 9 MSH6 child 16_29768188_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b6049966-328f-11e6-8e48-791e0e01a414 8_145867876_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 145867876 GA G 420 PASS ARHGAP39 Del intronic 1 8 MSH6 child 8_145867876_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b6077f48-3274-11e6-84df-cb0cebb8d062 14_102624572_TCACCTTGGAGGGGTGCATGGTGT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 14 102624572 TCACCTTGGAGGGGTGCATGGTG T 660 PASS WDR20 Del intronic 22 1 EXO1 child 14_102624572_TCACCTTGGAGGGGTGCATGGTGT_EXO1 22 >=10 1 C 0 - Microhomology-mediated b607c43e-3347-11e6-b1a0-0d1e4ec77248 X_8650858_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA X 8650858 CA C 420 PASS KAL1 Del intronic 1 8 FANCC child X_8650858_CAC_FANCC 1 1 1 A 7 A Repeat-mediated b60daf44-3274-11e6-975f-8246cab49462 16_47686530_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 47686530 G GT 540 PASS PHKB Ins intronic 1 7 MSH6 child 16_47686530_GGT_MSH6 1 1 - - - - Ins b60fddb4-328d-11e6-919e-92c36f39e758 2_151349446_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 151349446 TA T 420 PASS RND3 Del intronic 1 9 MSH6 child 2_151349446_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b628b3a2-32a1-11e6-bc2c-2a5e25c9da85 4_111687214_TTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 111687214 T TC 300 PASS - Ins - 1 5 MSH6 child 4_111687214_TTC_MSH6 1 1 - - - - Ins b62a01a0-3286-11e6-8b2d-79a669062303 3_180707767_ATA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 3 180707767 AT A 720 PASS DNAJC19 Del upstream 1 6 POLE parent 3_180707767_ATA_POLE 1 1 1 T 5 T Repeat-mediated b62d30a2-3270-11e6-b923-6726694da5d2 5_85726783_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 85726783 AT A 360 PASS - Del - 1 6 MSH6 child 5_85726783_ATA_MSH6 1 1 1 T 5 T Repeat-mediated b62e90bc-3272-11e6-83ef-69fb06e9a829 18_21906041_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 21906041 GA G 360 PASS OSBPL1A Del intronic 1 7 MSH6 child 18_21906041_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b633abf8-328e-11e6-9d97-efe56f39e758 4_6626222_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 6626222 TA T 600 PASS MAN2B2 Del downstream 1 7 MSH6 child 4_6626222_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b636d078-328c-11e6-9c89-8d090e01a414 1_203903793_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 203903793 AT A 420 PASS - Del - 1 8 MSH6 child 1_203903793_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b63ae38c-3284-11e6-97d5-6cf1bbe6aa09 17_25668046_GAGAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 25668046 GAGA G 480 PASS RP11-173M1.4 Del intronic 3 2 MSH6 child 17_25668046_GAGAG_MSH6 3 3 3 AGA 1 AGA Repeat-mediated b645635c-328e-11e6-bfa2-581f0e01a414 7_121575319_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 121575319 TA T 480 PASS PTPRZ1 Del intronic 1 9 MSH6 child 7_121575319_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b64fd6d8-3253-11e6-89d3-d29498816cf3 2_25788271_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 25788271 AT A 540 PASS DTNB Del intronic 1 9 MSH6 child 2_25788271_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b6504cb8-3289-11e6-ad64-7189a178171f 5_86403402_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 86403402 AT A 360 PASS RP11-72L22.1 Del intronic 1 7 FANCC child 5_86403402_ATA_FANCC 1 1 1 T 6 T Repeat-mediated b65140b0-3274-11e6-a924-afbd7d6a9fc7 2_127761751_GCG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 127761751 GC G 720 PASS - Del - 1 3 EXO1 child 2_127761751_GCG_EXO1 1 1 1 C 2 C Repeat-mediated b6561a42-3277-11e6-a391-f6d67d6a9fc7 6_17812023_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 17812023 CT C 660 PASS KIF13A Del intronic 1 9 MSH6 child 6_17812023_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b65b0078-328d-11e6-8eed-44ee5d753391 6_96872305_TGT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 6 96872305 TG T 540 PASS - Del - 1 8 POLE child 6_96872305_TGT_POLE 1 1 1 G 7 G Repeat-mediated b65b3a7a-326f-11e6-9fba-41ebd8b4fa2c 11_118612601_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 118612601 TA T 420 PASS - Del - 1 6 MSH6 child 11_118612601_TAT_MSH6 1 1 1 A 5 A Repeat-mediated b66082e4-3271-11e6-abaf-4642cab49462 6_15225486_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 15225486 GA G 360 PASS - Del - 1 8 MSH6 child 6_15225486_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b6644fc0-3328-11e6-a5c2-ba124530f757 8_79462734_TTCAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 8 79462734 TTCA T 360 PASS PKIA Del intronic 3 2 CHK2 child 8_79462734_TTCAT_CHK2 3 3 3 TCA 1 TCA Repeat-mediated b6765148-3323-11e6-bd60-7fd335cec73b 8_12436703_TTCT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 8 12436703 TTC T 345 PASS - Del - 2 1 CHK2 child 8_12436703_TTCT_CHK2 2 2 0 - 0 - None b67f225c-3272-11e6-b337-78fbd8b4fa2c 2_160454048_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 160454048 AT A 300 PASS BAZ2B Del intronic 1 9 POLB child 2_160454048_ATA_POLB 1 1 1 T 8 T Repeat-mediated b68212b6-331f-11e6-aa07-9916d8fd0a58 19_7854186_TGT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 19 7854186 TG T 1080 PASS - Del - 1 1 CHK2 parent 19_7854186_TGT_CHK2 1 1 0 - 0 G None b6835752-3284-11e6-a1ac-fd6da2c71c31 13_46480031_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 46480031 GT G 360 PASS - Del - 1 8 MSH6 child 13_46480031_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b6845942-3287-11e6-b32c-fd87a2c71c31 5_163674094_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 163674094 AT A 420 PASS - Del - 1 9 MSH6 child 5_163674094_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b6853c64-329f-11e6-94ca-0aaecc638e3d X_142848361_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 142848361 AT A 412 PASS RP3-526F5.2 Del intronic 1 7 MSH6 child X_142848361_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b692eea0-3280-11e6-b919-dd36ee3c4f5d 12_30885954_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 12 30885954 AT A 720 PASS CAPRIN2 Del intronic 1 9 POLB child 12_30885954_ATA_POLB 1 1 1 T 8 T Repeat-mediated b694c8ce-3271-11e6-a390-fc104530f757 1_58834868_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 58834868 CT C 300 PASS - Del - 1 6 FANCC child 1_58834868_CTC_FANCC 1 1 1 T 5 T Repeat-mediated b69a0ba6-3256-11e6-b950-8759fa52e078 X_34090735_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA X 34090735 AT A 660 PASS - Del - 1 7 POLM child X_34090735_ATA_POLM 1 1 1 T 6 T Repeat-mediated b69dfcee-3327-11e6-868e-d16670cce0de 6_50024520_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 50024520 AT A 540 PASS - Del - 1 8 EXO1 child 6_50024520_ATA_EXO1 1 1 1 T 7 T Repeat-mediated b6a829ac-3274-11e6-ab69-1c1607e9a829 9_6341998_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 6341998 CA C 480 PASS - Del - 1 9 MSH6 child 9_6341998_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b6a8e0bc-331f-11e6-a0b4-eb1c51c54cdd 16_9981053_GTG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 16 9981053 GT G 600 PASS GRIN2A Del intronic 1 9 CHK2 parent 16_9981053_GTG_CHK2 1 1 1 T 8 T Repeat-mediated b6abbd12-3254-11e6-9f9d-2c7a7872c165 12_78972632_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 78972632 GA G 720 PASS - Del - 1 8 MSH6 child 12_78972632_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b6adc77c-3274-11e6-b439-e34b3cfdbd24 2_11238800_GGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 11238800 G GT 480 PASS AC062028.1 Ins downstream 1 5 MSH6 parent 2_11238800_GGT_MSH6 1 1 - - - - Ins b6adcdca-3275-11e6-8cf1-8b341daa6045 16_64055937_ATGTA . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 16 64055937 ATGT A 420 PASS - Del - 3 2 POLM child 16_64055937_ATGTA_POLM 3 3 3 TGT 1 TGT Repeat-mediated b6b198d0-3255-11e6-8d5e-9bf112ae24cf 9_31708158_GGT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 9 31708158 G GT 322 PASS - Ins - 1 6 POLB child 9_31708158_GGT_POLB 1 1 - - - - Ins b6bf6984-3321-11e6-923f-078b3cfdbd24 18_75608404_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 18 75608404 GA G 360 PASS - Del - 1 9 EXO1 child 18_75608404_GAG_EXO1 1 1 1 A 8 A Repeat-mediated b6ce06f4-329c-11e6-ae71-0c5325c9da85 1_164174609_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 164174609 TA T 480 PASS - Del - 1 7 MSH6 child 1_164174609_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b6d33f1a-328e-11e6-8e48-791e0e01a414 8_73969438_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 73969438 GA G 406 PASS - Del - 1 7 MSH6 child 8_73969438_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b6d3d518-329a-11e6-9048-b49fcc638e3d 17_37423529_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 37423529 CA C 660 PASS FBXL20 Del intronic 1 9 MSH6 child 17_37423529_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b6d542c6-3282-11e6-aa13-78428e4678dd 5_2491972_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 2491972 CA C 420 PASS - Del - 1 8 EXO1 child 5_2491972_CAC_EXO1 1 1 1 A 7 A Repeat-mediated b6d692fc-3273-11e6-aa3b-ca60a178171f 13_108154724_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 108154724 AT A 420 PASS FAM155A Del intronic 1 5 MSH6 child 13_108154724_ATA_MSH6 1 1 1 T 4 T Repeat-mediated b6da07ec-3323-11e6-ba3d-227d3adbad45 4_154844569_CAC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 4 154844569 CA C 900 PASS - Del - 1 3 CHK2 child 4_154844569_CAC_CHK2 1 1 1 A 2 A Repeat-mediated b6e46ae0-3254-11e6-809b-7a832aaffa45 16_29316017_CAGC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 16 29316017 CAG C 720 PASS SNX29P2 Del intronic 2 2 POLM child 16_29316017_CAGC_POLM 2 2 2 AG 1 AG Repeat-mediated b6e6516c-3253-11e6-b4d0-327a7872c165 11_12870588_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 12870588 CT C 600 PASS TEAD1 Del intronic 1 9 MSH6 child 11_12870588_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b6f44206-326f-11e6-996e-f60b98ba1142 18_63794997_AAAGA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 18 63794997 AAAG A 360 PASS - Del - 3 2 EXO1 parent 18_63794997_AAAGA_EXO1 3 3 3 AAG 1 AAG Repeat-mediated b6f477d2-328b-11e6-ae53-96c36f39e758 15_25284450_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 25284450 TA T 420 PASS PWAR6 Del downstream 1 9 MSH6 child 15_25284450_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b6f5afc8-3284-11e6-99f7-076ea2c71c31 12_27421386_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 27421386 AT A 500 PASS STK38L Del intronic 1 6 MSH6 child 12_27421386_ATA_MSH6 1 1 1 T 5 T Repeat-mediated b6fbe000-328e-11e6-8f31-bfe16f39e758 9_72934216_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 72934216 AT A 480 PASS SMC5 Del intronic 1 9 MSH6 child 9_72934216_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b7037a86-3284-11e6-821e-69f1bbe6aa09 16_29957216_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 29957216 AT A 420 PASS TMEM219 Del intronic 1 9 MSH6 child 16_29957216_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b70a1abe-3278-11e6-b021-16ab4430f757 3_132119267_TGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 3 132119267 TG T 840 PASS - Del - 1 4 EXO1 child 3_132119267_TGT_EXO1 1 1 1 G 3 G Repeat-mediated b71d8be8-3256-11e6-9d5a-0c8112ae24cf 9_75046963_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 75046963 AT A 420 PASS - Del - 1 8 MSH6 child 9_75046963_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b71eb0b6-328f-11e6-84e9-d36dfd44d094 2_79082126_CCT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 2 79082126 C CT 300 PASS - Ins - 1 8 POLM child 2_79082126_CCT_POLM 1 1 - - - - Ins b726e552-3257-11e6-91d3-a68412ae24cf 7_92020797_CTTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 92020797 CTT C 420 PASS ANKIB1 Del intronic 2 7 MSH6 child 7_92020797_CTTC_MSH6 2 2 2 TT 5 T Repeat-mediated b729dcf0-325a-11e6-8cd9-139b7872c165 3_33172757_CCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 33172757 C CG 360 PASS CRTAP Ins intronic 1 8 MSH6 child 3_33172757_CCG_MSH6 1 1 - - - - Ins b72fdd38-3275-11e6-96f3-ccbe99696edf 12_71230885_TAT . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 12 71230885 TA T 360 PASS PTPRR Del intronic 1 8 POLM child 12_71230885_TAT_POLM 1 1 1 A 7 A Repeat-mediated b73193be-3282-11e6-89eb-f2eacdacbbbf 4_22884523_CAC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 22884523 CA C 600 PASS - Del - 1 9 EXO1 child 4_22884523_CAC_EXO1 1 1 1 A 8 A Repeat-mediated b73b6068-3293-11e6-a157-907af530df36 1_182019993_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 1 182019993 TA T 600 PASS ZNF648 Del downstream 1 9 POLB child 1_182019993_TAT_POLB 1 1 1 A 8 A Repeat-mediated b74052a8-329d-11e6-bc66-17b4cc638e3d 8_15967998_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 15967998 GT G 420 PASS MSR1 Del intronic 1 7 MSH6 child 8_15967998_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b74ee49c-3290-11e6-b81f-4ee66f39e758 8_67035793_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 67035793 GA G 660 PASS TRIM55 Del upstream 1 9 MSH6 child 8_67035793_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b7593934-3271-11e6-b89d-b2d6b0dab373 4_150924716_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 150924716 AT A 300 PASS - Del - 1 7 MSH6 child 4_150924716_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b76463a0-32a2-11e6-b970-398625c9da85 20_24315376_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 24315376 TA T 720 PASS - Del - 1 8 MSH6 child 20_24315376_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b77ad4e6-3275-11e6-97a4-7a51e7d0bdd7 12_70739936_TTA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 12 70739936 T TA 360 PASS CNOT2 Ins intronic 1 0 POLB child 12_70739936_TTA_POLB 1 1 - - - - Ins b78007de-3272-11e6-8f33-a6d9cde16804 11_31147467_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 31147467 TA T 420 PASS - Del - 1 9 MSH6 child 11_31147467_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b78ab866-3324-11e6-9918-868d0322d171 7_40530553_CCTTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 7 40530553 CCTT C 420 PASS SUGCT Del intronic 3 1 EXO1 child 7_40530553_CCTTC_EXO1 3 3 2 CT 0 - Microhomology-mediated b791b350-3289-11e6-a80b-87090e01a414 11_26802993_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 26802993 GA G 300 PASS - Del - 1 9 MSH6 child 11_26802993_GAG_MSH6 1 1 1 A 8 A Repeat-mediated b792f630-3292-11e6-9401-04ed6f39e758 3_192789603_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 192789603 TA T 460 PASS - Del - 1 8 MSH6 child 3_192789603_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b79f6e9e-328b-11e6-8770-3e160e01a414 9_5300455_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 5300455 TA T 720 PASS RLN2 Del intronic 1 9 MSH6 child 9_5300455_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b7b058d4-328c-11e6-a2c2-fa8aa178171f 8_67481645_TTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 8 67481645 T TA 540 PASS MYBL1 Ins intronic 1 0 FANCC child 8_67481645_TTA_FANCC 1 1 - - - - Ins b7b13fce-328c-11e6-aaf7-8f5c694da5d2 19_11596767_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 19 11596767 AT A 300 PASS ELAVL3 Del upstream 1 8 POLM child 19_11596767_ATA_POLM 1 1 1 T 7 T Repeat-mediated b7b1a00c-3270-11e6-a1fc-666dc042253c 7_138569154_CAGGAC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 7 138569154 CAGGA C 480 PASS KIAA1549 Del intronic 4 1 POLM parent 7_138569154_CAGGAC_POLM 4 4 3 AGG 0 - Microhomology-mediated b7b1f38c-3283-11e6-9e76-639d69062303 8_30122885_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 30122885 GA G 360 PASS - Del - 1 9 FANCC child 8_30122885_GAG_FANCC 1 1 1 A 8 A Repeat-mediated b7bd087c-328c-11e6-bd84-429305ad5bc4 1_161510141_TTGACT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 161510141 TTGAC T 600 PASS FCGR3A Del downstream 4 1 MSH6 child 1_161510141_TTGACT_MSH6 4 4 3 TGA 0 - Microhomology-mediated b7bfe1f6-3254-11e6-92eb-77832aaffa45 10_30726072_CTC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 10 30726072 CT C 420 PASS MAP3K8 Del intronic 1 8 POLM child 10_30726072_CTC_POLM 1 1 1 T 7 T Repeat-mediated b7c5c7c8-329b-11e6-a5ec-650998ba1142 6_128259611_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 6 128259611 CA C 660 PASS - Del - 1 7 CHK2 child 6_128259611_CAC_CHK2 1 1 1 A 6 A Repeat-mediated b7ce2f7e-3270-11e6-b306-b5204b47a305 2_106186147_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 106186147 C CA 480 PASS - Ins - 1 1 MSH6 child 2_106186147_CCA_MSH6 1 1 - - - - Ins b7d0847a-328b-11e6-8770-3e160e01a414 9_5341257_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 5341257 AT A 360 PASS RLN1 Del upstream 1 7 MSH6 child 9_5341257_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b7d64a0a-3258-11e6-acc5-308412ae24cf 5_171564455_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 171564455 TA T 406 PASS STK10 Del intronic 1 9 MSH6 child 5_171564455_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b7e31204-328e-11e6-88c7-2ba6e7d0bdd7 6_82916285_TAGAT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 6 82916285 TAGA T 300 PASS IBTK Del intronic 3 2 POLM child 6_82916285_TAGAT_POLM 3 3 3 AGA 1 AGA Repeat-mediated b7e4e58c-329f-11e6-ae71-0c5325c9da85 1_77626634_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 77626634 G GA 600 PASS PIGK Ins intronic 1 7 MSH6 child 1_77626634_GGA_MSH6 1 1 - - - - Ins b7e8f592-3258-11e6-b25c-c08312ae24cf 6_169158535_GAG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 6 169158535 GA G 420 PASS - Del - 1 7 POLB child 6_169158535_GAG_POLB 1 1 1 A 6 A Repeat-mediated b7e97478-3289-11e6-aa70-b0b3cc638e3d 19_30635659_AGA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 19 30635659 AG A 300 PASS - Del - 1 6 NUDT1 child 19_30635659_AGA_NUDT1 1 1 1 G 5 G Repeat-mediated b7f09074-326f-11e6-9fba-41ebd8b4fa2c 11_118665539_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 118665539 CT C 600 PASS DDX6 Del upstream 1 9 MSH6 child 11_118665539_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b7f2b8a0-3273-11e6-8418-1c5942c4520d 3_154125508_CCACACACACACACAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 154125508 C CACACACACACACAT 300 PASS GPR149 Ins intronic 14 0 MSH6 child 3_154125508_CCACACACACACACAT_MSH6 14 >=10 - - - - Ins b808c302-328c-11e6-b805-77090e01a414 2_227742692_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 227742692 TA T 540 PASS RHBDD1 Del intronic 1 8 MSH6 child 2_227742692_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b80becf6-3270-11e6-b923-6726694da5d2 5_86253485_CTTCTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 86253485 CTTCT C 300 PASS - Del - 4 1 MSH6 child 5_86253485_CTTCTC_MSH6 4 4 3 TTC 0 - Microhomology-mediated b80e0e06-3288-11e6-8392-fc5a51c54cdd 7_127449797_CATAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 7 127449797 CATA C 540 PASS SND1 Del intronic 3 2 EXO1 child 7_127449797_CATAC_EXO1 3 3 3 ATA 1 ATA Repeat-mediated b8132d66-3272-11e6-a623-9985cdacbbbf 17_74892722_CAGC . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 17 74892722 CAG C 540 PASS MGAT5B Del intronic 2 3 NUDT1 child 17_74892722_CAGC_NUDT1 2 2 2 AG 2 AG Repeat-mediated b813a574-328c-11e6-ab2c-1d6bfc77b11e 14_39242915_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 14 39242915 AT A 540 PASS LINC00639 Del intronic 1 8 POLE child 14_39242915_ATA_POLE 1 1 1 T 7 T Repeat-mediated b8156566-3283-11e6-8c64-b1af90e2c2e6 17_8411760_CTTAC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 17 8411760 CTTA C 900 PASS MYH10 Del intronic 3 3 POLE child 17_8411760_CTTAC_POLE 3 3 3 TTA 2 TTA Repeat-mediated b821e13e-3287-11e6-a8ac-a28ea2c71c31 3_10411906_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 10411906 CT C 720 PASS ATP2B2 Del intronic 1 5 MSH6 child 3_10411906_CTC_MSH6 1 1 1 T 4 T Repeat-mediated b828695e-328d-11e6-b797-0ba0e7d0bdd7 7_82227920_GACG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 7 82227920 GAC G 300 PASS - Del - 2 1 POLM child 7_82227920_GACG_POLM 2 2 1 A 0 - Microhomology-mediated b82e16a8-3272-11e6-ba3c-6216cd638e3d 7_45317463_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 7 45317463 CT C 480 PASS - Del - 1 8 NEIL1 child 7_45317463_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated b82f3232-3276-11e6-998e-ba48fa52e078 8_72477263_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 72477263 TA T 540 PASS - Del - 1 8 MSH6 child 8_72477263_TAT_MSH6 1 1 1 A 7 A Repeat-mediated b83111b0-3276-11e6-9e0f-7959cab49462 7_82980635_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 82980635 GT G 480 PASS - Del - 1 8 MSH6 child 7_82980635_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b83c5f32-326e-11e6-9fba-41ebd8b4fa2c 11_77814901_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 77814901 AT A 300 PASS ALG8 Del intronic 1 8 MSH6 child 11_77814901_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b841f174-3276-11e6-92d2-c259c225ee11 3_30051499_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 30051499 GA G 660 PASS RBMS3 Del downstream 1 5 MSH6 child 3_30051499_GAG_MSH6 1 1 1 A 4 A Repeat-mediated b843fad2-3325-11e6-bd60-7fd335cec73b 8_79462734_TTCAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 8 79462734 TTCA T 540 PASS PKIA Del intronic 3 2 CHK2 child 8_79462734_TTCAT_CHK2 3 3 3 TCA 1 TCA Repeat-mediated b847ac14-3275-11e6-9e0f-7959cab49462 7_19087755_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 19087755 CA C 720 PASS - Del - 1 6 MSH6 child 7_19087755_CAC_MSH6 1 1 1 A 5 A Repeat-mediated b84a3ece-3276-11e6-92d2-c259c225ee11 3_30073945_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 30073945 GT G 600 PASS - Del - 1 7 MSH6 child 3_30073945_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b8506cde-3255-11e6-a304-347a7872c165 1_150083072_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 150083072 GT G 480 PASS VPS45 Del intronic 1 8 MSH6 child 1_150083072_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b8529416-3271-11e6-b923-6726694da5d2 5_165240322_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 165240322 TA T 300 PASS - Del - 1 7 MSH6 child 5_165240322_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b85b0be2-3257-11e6-91d3-a68412ae24cf 7_92594905_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 92594905 AT A 480 PASS - Del - 1 9 MSH6 child 7_92594905_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b865bf76-3291-11e6-b81f-4ee66f39e758 8_142871782_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 142871782 TG T 660 PASS - Del - 1 7 MSH6 child 8_142871782_TGT_MSH6 1 1 1 G 6 G Repeat-mediated b87876f2-3273-11e6-bfb2-2749c225ee11 12_93390681_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 93390681 GT G 720 PASS RP11-511B23.1 Del upstream 1 7 MSH6 child 12_93390681_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b87a3b1e-3272-11e6-94cc-1ec335cec73b 19_9758570_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 9758570 CA C 480 PASS ZNF562 Del downstream 1 7 MSH6 child 19_9758570_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b87aadb4-3287-11e6-a5b3-3f1ebce6aa09 7_119955166_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 119955166 GA G 540 PASS KCND2 Del intronic 1 8 MSH6 child 7_119955166_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b87cb08c-3291-11e6-961b-e659e84777f6 1_164816266_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 1 164816266 GA G 540 PASS PBX1 Del 3prime_UTR_variant 1 7 CHK2 child 1_164816266_GAG_CHK2 1 1 1 A 6 A Repeat-mediated b8860948-3287-11e6-a5b3-3f1ebce6aa09 7_119977066_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 119977066 CT C 480 PASS KCND2 Del intronic 1 9 MSH6 child 7_119977066_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b887cfa4-329a-11e6-a0ea-135325c9da85 15_61893262_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 61893262 GT G 480 PASS RP11-259A24.1 Del intronic 1 7 MSH6 child 15_61893262_GTG_MSH6 1 1 1 T 6 T Repeat-mediated b89002ba-3276-11e6-a2b7-2d8b671699ea 21_21363492_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 21363492 AT A 300 PASS - Del - 1 7 MSH6 child 21_21363492_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b896517a-3275-11e6-83cd-a472a178171f 4_45847935_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 45847935 TA T 420 PASS - Del - 1 9 MSH6 child 4_45847935_TAT_MSH6 1 1 1 A 8 A Repeat-mediated b89796e4-3292-11e6-9401-04ed6f39e758 3_193154403_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 193154403 AT A 400 PASS ATP13A4 Del intronic 1 9 MSH6 child 3_193154403_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b898711c-3270-11e6-b62b-e162a78019ab 8_79699714_GTG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 8 79699714 GT G 780 PASS IL7 Del intronic 1 8 POLM parent 8_79699714_GTG_POLM 1 1 1 T 7 T Repeat-mediated b89cefc4-3290-11e6-9d24-ade56f39e758 7_139572453_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 139572453 CA C 600 PASS TBXAS1 Del intronic 1 6 MSH6 child 7_139572453_CAC_MSH6 1 1 1 A 5 A Repeat-mediated b89f7990-3292-11e6-ba8c-277819a91649 6_71174784_CTAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 6 71174784 CTA C 300 PASS FAM135A Del intronic 2 1 NEIL1 child 6_71174784_CTAC_NEIL1 2 2 1 T 0 - Microhomology-mediated b8a332ee-3286-11e6-a284-4b89a2c71c31 4_16056484_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 16056484 GA G 540 PASS PROM1 Del intronic 1 7 MSH6 child 4_16056484_GAG_MSH6 1 1 1 A 6 A Repeat-mediated b8a41e8e-328b-11e6-a4b4-e6cd191589db 17_65072807_GGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 17 65072807 G GA 300 PASS HELZ Ins 3prime_UTR_variant 1 2 FANCC child 17_65072807_GGA_FANCC 1 1 - - - - Ins b8b7d794-328b-11e6-b8e6-91c36f39e758 11_12681727_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 12681727 CA C 720 PASS - Del - 1 7 MSH6 child 11_12681727_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b8c08504-3274-11e6-a862-bc9becf1e924 1_155883777_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 155883777 AG A 540 PASS KIAA0907 Del 3prime_UTR_variant 1 6 MSH6 child 1_155883777_AGA_MSH6 1 1 1 G 5 G Repeat-mediated b8c5c4f4-3276-11e6-a2b7-2d8b671699ea 21_21416180_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 21416180 CT C 480 PASS - Del - 1 7 MSH6 child 21_21416180_CTC_MSH6 1 1 1 T 6 T Repeat-mediated b8c6b34a-3321-11e6-842f-4d64694da5d2 19_44683332_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 19 44683332 TA T 720 PASS ZNF226 Del downstream 1 9 EXO1 child 19_44683332_TAT_EXO1 1 1 1 A 8 A Repeat-mediated b8c9ca74-328d-11e6-b797-0ba0e7d0bdd7 7_82560605_TGAGT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 7 82560605 TGAG T 720 PASS PCLO Del intronic 3 2 POLM child 7_82560605_TGAGT_POLM 3 3 3 GAG 1 GAG Repeat-mediated b8ca0a9e-3287-11e6-b32c-fd87a2c71c31 5_164716077_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 164716077 GT G 660 PASS - Del - 1 6 MSH6 child 5_164716077_GTG_MSH6 1 1 1 T 5 T Repeat-mediated b8d1ef0a-3275-11e6-98dc-d270cde16804 22_36293164_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 22 36293164 CT C 1020 PASS RBFOX2 Del intronic 1 9 MSH6 child 22_36293164_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b8d3ab00-326c-11e6-9793-9a8fb0dab373 13_28925198_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 28925198 AT A 300 PASS FLT1 Del intronic 1 8 MSH6 child 13_28925198_ATA_MSH6 1 1 1 T 7 T Repeat-mediated b8d47988-328d-11e6-b6a6-1f1e0e01a414 4_77669146_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 77669146 CA C 420 PASS SHROOM3 Del intronic 1 9 MSH6 child 4_77669146_CAC_MSH6 1 1 1 A 8 A Repeat-mediated b8d4fd72-3323-11e6-9271-15989d7ad846 5_27593006_TAT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 5 27593006 TA T 540 PASS - Del - 1 8 CHK2 child 5_27593006_TAT_CHK2 1 1 1 A 7 A Repeat-mediated b8d8980c-328c-11e6-8e38-06cf69062303 4_111664149_AGCAGTA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 4 111664149 AGCAGT A 300 PASS - Del - 5 1 CHK2 child 4_111664149_AGCAGTA_CHK2 5 5 1 G 0 - Microhomology-mediated b8dbc026-3292-11e6-b14c-5e337a852e0e X_39954191_ACTA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 39954191 ACT A 300 PASS BCOR Del intronic 2 2 CHK2 child X_39954191_ACTA_CHK2 2 2 2 CT 1 CT Repeat-mediated b8deb83c-3290-11e6-b81f-4ee66f39e758 8_67477202_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 67477202 AT A 720 PASS MYBL1 Del intronic 1 7 MSH6 child 8_67477202_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b8e07d58-328f-11e6-a724-38ab4430f757 1_237450808_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 1 237450808 TA T 480 PASS RYR2 Del intronic 1 1 POLE child 1_237450808_TAT_POLE 1 1 0 - 0 A None b8e52f20-331f-11e6-81cd-b5127e6a9fc7 10_13380401_CAC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 10 13380401 CA C 1140 PASS SEPHS1 Del intronic 1 5 CHK2 parent 10_13380401_CAC_CHK2 1 1 1 A 4 A Repeat-mediated b8e785a2-329a-11e6-a0ea-135325c9da85 15_61976444_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 61976444 CT C 420 PASS RP11-507B12.1 Del intronic 1 9 MSH6 child 15_61976444_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b8e7886e-3276-11e6-8caa-7235b51afd22 9_133571994_GTG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 9 133571994 GT G 600 PASS EXOSC2 Del intronic 1 7 EXO1 child 9_133571994_GTG_EXO1 1 1 1 T 6 T Repeat-mediated b8f1e240-3286-11e6-a284-4b89a2c71c31 4_16257401_GGAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 16257401 GGA G 540 PASS - Del - 2 6 MSH6 child 4_16257401_GGAG_MSH6 2 2 2 GA 5 GA Repeat-mediated b8fd0246-329b-11e6-ae71-0c5325c9da85 1_100849618_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 100849618 AT A 660 PASS CDC14A Del intronic 1 7 MSH6 child 1_100849618_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b8fe40aa-3270-11e6-9fba-41ebd8b4fa2c 11_18243715_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 18243715 G GT 540 PASS - Ins - 1 5 MSH6 child 11_18243715_GGT_MSH6 1 1 - - - - Ins b8fe48fa-328b-11e6-aac2-75bb5d753391 4_101806011_ATA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 101806011 AT A 300 PASS - Del - 1 8 POLE child 4_101806011_ATA_POLE 1 1 1 T 7 T Repeat-mediated b8febc7c-3272-11e6-a5d0-4fd14a47a305 2_29568925_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 29568925 CA C 360 PASS ALK Del intronic 1 7 MSH6 child 2_29568925_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b90eeeb6-3273-11e6-af01-f818cd638e3d 15_63878345_CTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 15 63878345 CT C 540 PASS USP3 Del intronic 1 5 EXO1 child 15_63878345_CTC_EXO1 1 1 1 T 4 T Repeat-mediated b91e74d2-3271-11e6-972e-caab7d6a9fc7 15_26430300_AGTA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 15 26430300 AGT A 360 PASS - Del - 2 3 NEIL1 child 15_26430300_AGTA_NEIL1 2 2 2 GT 2 GT Repeat-mediated b91fa522-329a-11e6-9048-b49fcc638e3d 17_37698770_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 37698770 CT C 360 PASS RNU6-233P Del downstream 1 9 MSH6 child 17_37698770_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b926d31c-3284-11e6-8ebc-68f1bbe6aa09 18_41271656_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 41271656 GA G 600 PASS - Del - 1 8 MSH6 child 18_41271656_GAG_MSH6 1 1 1 A 7 A Repeat-mediated b92f3764-3270-11e6-b89d-b2d6b0dab373 4_81951746_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 81951746 TC T 600 PASS BMP3 Del upstream 1 7 MSH6 child 4_81951746_TCT_MSH6 1 1 1 C 6 C Repeat-mediated b931df7a-3278-11e6-a391-f6d67d6a9fc7 6_83828739_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 83828739 GA G 660 PASS DOPEY1 Del intronic 1 6 MSH6 child 6_83828739_GAG_MSH6 1 1 1 A 5 A Repeat-mediated b93a1f76-3289-11e6-a5b3-3f1ebce6aa09 7_158569732_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 158569732 T TA 420 PASS ESYT2 Ins intronic 1 1 MSH6 child 7_158569732_TTA_MSH6 1 1 - - - - Ins b94dba0a-3283-11e6-b857-6115038949d4 5_99070825_TAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 5 99070825 TA T 303 PASS - Del - 1 9 POLM child 5_99070825_TAT_POLM 1 1 1 A 8 A Repeat-mediated b950131e-328c-11e6-8952-77c36f39e758 10_74530659_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 74530659 GT G 480 PASS MCU Del intronic 1 8 MSH6 child 10_74530659_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b951e598-3270-11e6-b5b8-e0c24a47a305 X_81204748_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 81204748 GT G 300 PASS - Del - 1 8 MSH6 child X_81204748_GTG_MSH6 1 1 1 T 7 T Repeat-mediated b95d6e82-328d-11e6-b4fe-93c36f39e758 12_130889565_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 130889565 GA G 480 PASS RIMBP2 Del intronic 1 6 MSH6 child 12_130889565_GAG_MSH6 1 1 1 A 5 A Repeat-mediated b964ff92-3258-11e6-8d59-25a02aaffa45 4_177215194_GTATG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 4 177215194 GTAT G 480 PASS - Del - 3 2 POLM child 4_177215194_GTATG_POLM 3 3 3 TAT 1 TAT Repeat-mediated b9664ed4-3257-11e6-9d5a-0c8112ae24cf 9_139798001_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 139798001 TA T 600 PASS TRAF2 Del intronic 1 3 MSH6 child 9_139798001_TAT_MSH6 1 1 1 A 2 A Repeat-mediated b96836a6-3273-11e6-a862-bc9becf1e924 1_85074572_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 85074572 TA T 660 PASS - Del - 1 7 MSH6 child 1_85074572_TAT_MSH6 1 1 1 A 6 A Repeat-mediated b96e6f86-328b-11e6-aa75-90c36f39e758 13_30414839_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 30414839 AT A 600 PASS UBL3 Del intronic 1 6 MSH6 child 13_30414839_ATA_MSH6 1 1 1 T 5 T Repeat-mediated b9727a2a-328d-11e6-b837-1e9fe7d0bdd7 4_95447028_TAT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 4 95447028 TA T 900 PASS PDLIM5 Del intronic 1 7 POLM child 4_95447028_TAT_POLM 1 1 1 A 6 A Repeat-mediated b9828982-3289-11e6-a284-4b89a2c71c31 4_95615106_AATC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 95615106 A ATC 480 PASS RP11-554D13.1 Ins intronic 2 6 MSH6 child 4_95615106_AATC_MSH6 2 2 - - - - Ins b982d26e-3286-11e6-a5b3-3f1ebce6aa09 7_25851158_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 25851158 CA C 660 PASS - Del - 1 7 MSH6 child 7_25851158_CAC_MSH6 1 1 1 A 6 A Repeat-mediated b98e1b1e-327d-11e6-9131-82eeeff7a29c 11_127633186_ACTA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 11 127633186 ACT A 420 PASS - Del - 2 2 POLB parent 11_127633186_ACTA_POLB 2 2 2 CT 1 CT Repeat-mediated b998f08e-328c-11e6-8952-77c36f39e758 10_74618043_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 74618043 CA C 480 PASS MCU Del intronic 1 6 MSH6 child 10_74618043_CAC_MSH6 1 1 1 A 5 A Repeat-mediated b9990be8-329e-11e6-aea7-956725c9da85 3_15397683_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 15397683 GT G 360 PASS - Del - 1 9 MSH6 child 3_15397683_GTG_MSH6 1 1 1 T 8 T Repeat-mediated b99b406e-328c-11e6-8256-94c36f39e758 17_59810720_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 59810720 AT A 420 PASS BRIP1 Del intronic 1 9 MSH6 child 17_59810720_ATA_MSH6 1 1 1 T 8 T Repeat-mediated b9a28a22-3291-11e6-8d18-13cc0d01a414 20_3056716_ACA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 3056716 AC A 480 PASS OXT Del downstream 1 7 MSH6 child 20_3056716_ACA_MSH6 1 1 1 C 6 C Repeat-mediated b9a4d558-3272-11e6-a862-bc9becf1e924 1_23809015_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 23809015 CA C 400 PASS ASAP3 Del intronic 1 8 MSH6 child 1_23809015_CAC_MSH6 1 1 1 A 7 A Repeat-mediated b9a8ee66-325b-11e6-8340-da9012ae24cf 6_36312402_CCAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 36312402 C CAT 360 PASS - Ins - 2 6 MSH6 child 6_36312402_CCAT_MSH6 2 2 - - - - Ins b9aa2e66-3283-11e6-a853-ed929cdf095d 9_81283478_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 9 81283478 AT A 540 PASS - Del - 1 9 POLE child 9_81283478_ATA_POLE 1 1 1 T 8 T Repeat-mediated b9acaaf4-3258-11e6-8cd9-139b7872c165 3_89825908_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 89825908 CT C 360 PASS - Del - 1 8 MSH6 child 3_89825908_CTC_MSH6 1 1 1 T 7 T Repeat-mediated b9af699e-325b-11e6-8340-da9012ae24cf 6_36312409_AATG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 36312409 A ATG 300 PASS - Ins - 2 0 MSH6 child 6_36312409_AATG_MSH6 2 2 - - - - Ins b9b9b8fc-3325-11e6-8b24-4ab97d6a9fc7 4_84642799_TCT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 4 84642799 TC T 540 PASS RP11-767N15.1 Del intronic 1 3 EXO1 child 4_84642799_TCT_EXO1 1 1 1 C 2 C Repeat-mediated b9bd0534-3285-11e6-99f7-076ea2c71c31 12_113900525_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 113900525 CT C 420 PASS LHX5 Del 3prime_UTR_variant 1 9 MSH6 child 12_113900525_CTC_MSH6 1 1 1 T 8 T Repeat-mediated b9bfe2a4-3271-11e6-b636-ce0fead19ece 12_12368229_CCTC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 12 12368229 CCT C 480 PASS LRP6 Del intronic 2 1 NEIL1 child 12_12368229_CCTC_NEIL1 2 2 0 - 0 - None b9c3a212-3290-11e6-9cbe-9277fc77b11e 3_20556629_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 3 20556629 AT A 420 PASS - Del - 1 8 POLE child 3_20556629_ATA_POLE 1 1 1 T 7 T Repeat-mediated b9d89dfc-3259-11e6-a304-347a7872c165 1_188586844_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 188586844 T TA 480 PASS - Ins - 1 4 MSH6 child 1_188586844_TTA_MSH6 1 1 - - - - Ins b9dbdfe4-3272-11e6-aca7-e2b6dcd214c4 5_137710299_TATAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 5 137710299 TATA T 600 PASS KDM3B Del intronic 3 2 POLM child 5_137710299_TATAT_POLM 3 3 3 ATA 1 ATA Repeat-mediated b9dd3622-3273-11e6-b89d-b2d6b0dab373 4_86447114_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 86447114 C CA 840 PASS ARHGAP24 Ins intronic 1 1 MSH6 child 4_86447114_CCA_MSH6 1 1 - - - - Ins b9e0f344-328b-11e6-b43c-7ec36f39e758 16_11824413_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 11824413 AT A 540 PASS TXNDC11 Del intronic 1 7 MSH6 child 16_11824413_ATA_MSH6 1 1 1 T 6 T Repeat-mediated b9f85260-3271-11e6-8ebd-b79e4430f757 12_80235698_GTG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 12 80235698 GT G 420 PASS PPP1R12A Del intronic 1 8 POLB child 12_80235698_GTG_POLB 1 1 1 T 7 T Repeat-mediated b9fe5b96-3286-11e6-8404-8e1fbce6aa09 8_20251977_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 20251977 AT A 480 PASS - Del - 1 6 MSH6 child 8_20251977_ATA_MSH6 1 1 1 T 5 T Repeat-mediated ba0eb2ee-3325-11e6-98e4-0c20d8fd0a58 X_146901201_TGT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA X 146901201 TG T 1020 PASS - Del - 1 7 CHK2 parent X_146901201_TGT_CHK2 1 1 1 G 6 G Repeat-mediated ba140ad2-3258-11e6-8cd9-139b7872c165 3_90138282_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 90138282 CA C 600 PASS - Del - 1 7 MSH6 child 3_90138282_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ba2494a0-3254-11e6-a4a7-35f212ae24cf 14_94463296_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 94463296 TG T 840 PASS - Del - 1 7 MSH6 child 14_94463296_TGT_MSH6 1 1 1 G 6 G Repeat-mediated ba2c8b86-3283-11e6-83b0-2c6e0d016689 2_1977666_ACA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 1977666 AC A 420 PASS MYT1L Del intronic 1 4 EXO1 child 2_1977666_ACA_EXO1 1 1 1 C 3 C Repeat-mediated ba3487ac-3290-11e6-b81f-4ee66f39e758 8_67583629_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 67583629 AT A 480 PASS VCPIP1 Del upstream 1 8 MSH6 child 8_67583629_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ba4112d2-328c-11e6-b537-8a5c694da5d2 13_39777818_ACA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 13 39777818 AC A 480 PASS - Del - 1 5 POLM child 13_39777818_ACA_POLM 1 1 1 C 4 C Repeat-mediated ba4eb620-327e-11e6-8c98-e78c90e2c2e6 4_28689261_TTGACT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 4 28689261 TTGAC T 600 PASS - Del - 4 1 NUDT1 child 4_28689261_TTGACT_NUDT1 4 4 2 TG 0 - Microhomology-mediated ba51e85a-329b-11e6-a5cf-205325c9da85 11_118488189_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 118488189 CT C 540 PASS PHLDB1 Del intronic 1 9 MSH6 child 11_118488189_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ba52e4e6-3276-11e6-b48f-cc371daa6045 9_102642854_TCT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 9 102642854 TC T 499 PASS - Del - 1 6 EXO1 child 9_102642854_TCT_EXO1 1 1 1 C 5 C Repeat-mediated ba53d952-3274-11e6-972b-b65bfc77b11e 1_112952013_TAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 112952013 TA T 420 PASS CTTNBP2NL Del intronic 1 8 CHK2 child 1_112952013_TAT_CHK2 1 1 1 A 7 A Repeat-mediated ba5ef238-3292-11e6-b014-6aecb41afd22 2_24765361_CTC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 2 24765361 CT C 480 PASS NCOA1 Del intronic 1 8 NEIL1 child 2_24765361_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated ba6029cc-3293-11e6-a2c5-65337a852e0e 5_110144508_GTAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 5 110144508 GTA G 360 PASS - Del - 2 7 CHK2 child 5_110144508_GTAG_CHK2 2 2 2 TA 6 TA Repeat-mediated ba63eeb8-3275-11e6-9406-ffa24430f757 3_62656358_TAT . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 3 62656358 TA T 300 PASS CADPS Del intronic 1 9 POLB child 3_62656358_TAT_POLB 1 1 1 A 8 A Repeat-mediated ba67acc6-3273-11e6-a5d0-4fd14a47a305 2_116001334_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 116001334 GT G 420 PASS DPP10 Del intronic 1 9 MSH6 child 2_116001334_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ba76ff58-3289-11e6-8b67-086ea2c71c31 1_241754736_AAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 241754736 A AG 420 PASS KMO Ins intronic 1 1 MSH6 child 1_241754736_AAG_MSH6 1 1 - - - - Ins ba7f1d8c-3275-11e6-83cd-a472a178171f 4_46633198_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 46633198 AT A 540 PASS - Del - 1 6 MSH6 child 4_46633198_ATA_MSH6 1 1 1 T 5 T Repeat-mediated ba834986-3287-11e6-afcf-0311bce6aa09 9_83223761_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 83223761 G GA 418 PASS - Ins - 1 1 MSH6 child 9_83223761_GGA_MSH6 1 1 - - - - Ins ba882fe0-3256-11e6-9cd8-27f912ae24cf 7_138237003_AAATGACACA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 7 138237003 AAATGACAC A 660 PASS TRIM24 Del intronic 8 1 POLB child 7_138237003_AAATGACACA_POLB 8 8 1 A 0 - Microhomology-mediated ba88f86c-326f-11e6-b0d5-f40b98ba1142 19_38425611_GTG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 19 38425611 GT G 480 PASS SIPA1L3 Del intronic 1 9 EXO1 parent 19_38425611_GTG_EXO1 1 1 1 T 8 T Repeat-mediated ba8a2d30-328e-11e6-9d24-ade56f39e758 7_9511980_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 9511980 CA C 660 PASS - Del - 1 8 MSH6 child 7_9511980_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ba8c73ba-3284-11e6-8ebc-68f1bbe6aa09 18_42027790_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 42027790 TA T 640 PASS CTC-782O7.1 Del intronic 1 7 MSH6 child 18_42027790_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ba8cdaee-3284-11e6-a79b-fd3eee3c4f5d 4_179072579_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 4 179072579 AT A 300 PASS - Del - 1 8 POLB child 4_179072579_ATA_POLB 1 1 1 T 7 T Repeat-mediated ba970d34-3275-11e6-83cd-a472a178171f 4_46747562_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 46747562 CT C 420 PASS COX7B2 Del intronic 1 6 MSH6 child 4_46747562_CTC_MSH6 1 1 1 T 5 T Repeat-mediated baa49a0e-327e-11e6-89da-51be4dc77248 15_68644066_GGAGGC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 15 68644066 G GAGGC 540 PASS ITGA11 Ins intronic 4 0 NUDT1 child 15_68644066_GGAGGC_NUDT1 4 4 - - - - Ins baabd89e-328f-11e6-8f31-bfe16f39e758 9_138256764_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 138256764 CA C 600 PASS - Del - 1 9 MSH6 child 9_138256764_CAC_MSH6 1 1 1 A 8 A Repeat-mediated baae3bb4-328c-11e6-8459-82090e01a414 12_62542007_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 62542007 C CA 540 PASS FAM19A2 Ins intronic 1 4 MSH6 child 12_62542007_CCA_MSH6 1 1 - - - - Ins bab4487e-3278-11e6-a391-f6d67d6a9fc7 6_84287817_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 84287817 AT A 840 PASS SNAP91 Del intronic 1 9 MSH6 child 6_84287817_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bab738fa-328b-11e6-aa75-90c36f39e758 13_30676438_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 30676438 AC A 540 PASS LINC00365 Del downstream 1 1 MSH6 child 13_30676438_ACA_MSH6 1 1 0 - 0 C None bac1717c-3258-11e6-8cd9-139b7872c165 3_93566396_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 93566396 CT C 480 PASS RNU6-488P Del downstream 1 8 MSH6 child 3_93566396_CTC_MSH6 1 1 1 T 7 T Repeat-mediated bad31faa-3279-11e6-8c34-46e27872c165 5_131521107_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 131521107 C CT 900 PASS AC063976.3 Ins upstream 1 7 MSH6 child 5_131521107_CCT_MSH6 1 1 - - - - Ins badc8502-3253-11e6-9f9d-2c7a7872c165 12_12274394_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 12274394 CA C 540 PASS LRP6 Del intronic 1 9 MSH6 child 12_12274394_CAC_MSH6 1 1 1 A 8 A Repeat-mediated badcafa8-3291-11e6-9432-c0e56f39e758 5_31431008_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 31431008 T TA 780 PASS DROSHA Ins intronic 1 8 MSH6 child 5_31431008_TTA_MSH6 1 1 - - - - Ins bae62996-3284-11e6-95c7-6dfa4430f757 11_65267084_TGGT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 11 65267084 TGG T 780 PASS MALAT1 Del nc_variant 2 3 EXO1 child 11_65267084_TGGT_EXO1 2 2 1 G 0 - Microhomology-mediated bae7ef0e-3277-11e6-a391-f6d67d6a9fc7 6_18392098_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 18392098 CA C 360 PASS RNF144B Del intronic 1 9 MSH6 child 6_18392098_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bae8165a-328b-11e6-8770-3e160e01a414 9_6235005_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 6235005 GA G 360 PASS IL33 Del intronic 1 9 MSH6 child 9_6235005_GAG_MSH6 1 1 1 A 8 A Repeat-mediated baefb40a-3286-11e6-8404-8e1fbce6aa09 8_21049383_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 21049383 GA G 360 PASS - Del - 1 9 MSH6 child 8_21049383_GAG_MSH6 1 1 1 A 8 A Repeat-mediated baf02ae0-331f-11e6-94fd-ff28038949d4 15_25942710_CAGC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 15 25942710 CAG C 1140 PASS ATP10A Del intronic 2 3 CHK2 parent 15_25942710_CAGC_CHK2 2 2 2 AG 2 AG Repeat-mediated bafd333e-3284-11e6-a8af-066ea2c71c31 15_42036411_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 42036411 TA T 540 PASS MGA Del intronic 1 1 MSH6 child 15_42036411_TAT_MSH6 1 1 0 - 0 A None baffd572-3274-11e6-a2a4-305390e2c2e6 3_133831303_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 133831303 TA T 480 PASS - Del - 1 7 POLB child 3_133831303_TAT_POLB 1 1 1 A 6 A Repeat-mediated bb0a1bae-3279-11e6-92c7-b3b42aaffa45 20_10700563_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 20 10700563 AT A 600 PASS - Del - 1 5 EXO1 child 20_10700563_ATA_EXO1 1 1 1 T 4 T Repeat-mediated bb0b78ac-328b-11e6-9e88-ed4438e8a824 6_7917521_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 6 7917521 AT A 600 PASS TXNDC5 Del intronic 1 1 NUDT1 parent 6_7917521_ATA_NUDT1 1 1 0 - 0 T None bb0c01d8-3285-11e6-be43-0a6ea2c71c31 10_114306357_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 114306357 CA C 600 PASS VTI1A Del intronic 1 5 MSH6 child 10_114306357_CAC_MSH6 1 1 1 A 4 A Repeat-mediated bb0d3afe-3270-11e6-b5b8-e0c24a47a305 X_82641761_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 82641761 GA G 480 PASS - Del - 1 9 MSH6 child X_82641761_GAG_MSH6 1 1 1 A 8 A Repeat-mediated bb0ebc20-329e-11e6-bc2c-2a5e25c9da85 4_120266674_TAGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 120266674 TAG T 600 PASS - Del - 2 6 MSH6 child 4_120266674_TAGT_MSH6 2 2 2 AG 5 AG Repeat-mediated bb0f4c38-3287-11e6-a284-4b89a2c71c31 4_110063891_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 110063891 CT C 300 PASS COL25A1 Del intronic 1 9 MSH6 child 4_110063891_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bb151dbe-3289-11e6-8eee-76090e01a414 10_28825893_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 28825893 TA T 480 PASS WAC Del intronic 1 8 MSH6 child 10_28825893_TAT_MSH6 1 1 1 A 7 A Repeat-mediated bb19b55a-329c-11e6-aca6-b39fcc638e3d 2_192147249_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 192147249 GA G 600 PASS MYO1B Del intronic 1 9 MSH6 child 2_192147249_GAG_MSH6 1 1 1 A 8 A Repeat-mediated bb1ec3bc-3290-11e6-9432-c0e56f39e758 5_151703652_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 151703652 AT A 331 PASS - Del - 1 9 MSH6 child 5_151703652_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bb206bc6-3287-11e6-a5b3-3f1ebce6aa09 7_121170026_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 121170026 GT G 420 PASS - Del - 1 7 MSH6 child 7_121170026_GTG_MSH6 1 1 1 T 6 T Repeat-mediated bb24ee12-3273-11e6-b1f2-34f6620e6611 1_213113170_CTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 1 213113170 CT C 420 PASS - Del - 1 8 CHK2 child 1_213113170_CTC_CHK2 1 1 1 T 7 T Repeat-mediated bb263cfc-3324-11e6-922f-5f0e75253f64 4_129690133_GAGAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 4 129690133 GAGA G 600 PASS - Del - 3 3 POLE child 4_129690133_GAGAG_POLE 3 3 3 AGA 2 AGA Repeat-mediated bb364622-3272-11e6-9e18-3a69671699ea 10_24437267_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 24437267 TA T 360 PASS KIAA1217 Del intronic 1 9 MSH6 child 10_24437267_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bb439c5a-3259-11e6-a304-347a7872c165 1_189011311_CCTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 189011311 C CTA 300 PASS - Ins - 2 2 MSH6 child 1_189011311_CCTA_MSH6 2 2 - - - - Ins bb45d530-3284-11e6-870e-6af1bbe6aa09 19_20225469_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 20225469 TA T 360 PASS ZNF90 Del intronic 1 6 MSH6 child 19_20225469_TAT_MSH6 1 1 1 A 5 A Repeat-mediated bb4a112a-3295-11e6-a24b-ac3c7a852e0e 6_111525154_TAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 6 111525154 TA T 300 PASS SLC16A10 Del intronic 1 9 CHK2 child 6_111525154_TAT_CHK2 1 1 1 A 8 A Repeat-mediated bb4a531c-3347-11e6-aa8a-bd633cfdbd24 15_93381368_TAT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 15 93381368 TA T 300 PASS - Del - 1 8 FANCC child 15_93381368_TAT_FANCC 1 1 1 A 7 A Repeat-mediated bb506314-3285-11e6-b093-c9c7b0dab373 2_105487811_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 105487811 GT G 360 PASS - Del - 1 9 MSH6 child 2_105487811_GTG_MSH6 1 1 1 T 8 T Repeat-mediated bb518318-329c-11e6-ae71-0c5325c9da85 1_165289252_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 165289252 AT A 420 PASS LMX1A Del intronic 1 9 MSH6 child 1_165289252_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bb58a90a-3287-11e6-a8ac-a28ea2c71c31 3_11605490_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 11605490 AC A 420 PASS VGLL4 Del intronic 1 5 MSH6 child 3_11605490_ACA_MSH6 1 1 1 C 4 C Repeat-mediated bb5ddbb8-326f-11e6-bfba-13bf4a47a305 9_126570834_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 126570834 AT A 480 PASS DENND1A Del intronic 1 7 MSH6 child 9_126570834_ATA_MSH6 1 1 1 T 6 T Repeat-mediated bb61896a-328e-11e6-ab2c-1d6bfc77b11e 14_85251973_AAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 14 85251973 A AT 480 PASS - Ins - 1 3 POLE child 14_85251973_AAT_POLE 1 1 - - - - Ins bb6c9e62-3271-11e6-9850-b83e75253f64 12_61423609_CTTCTTCTCCTTCTCCTTCTTGC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 61423609 CTTCTTCTCCTTCTCCTTCTTG C 300 PASS - Del - 21 1 FANCC child 12_61423609_CTTCTTCTCCTTCTCCTTCTTGC_FANCC 21 >=10 12 TTCTTCTCCTTC 0 - Microhomology-mediated bb6ed014-3290-11e6-92cf-bf2a0e01a414 6_123285619_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 123285619 TA T 540 PASS - Del - 1 9 MSH6 child 6_123285619_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bb6f06ec-3290-11e6-bec1-ca1d0e01a414 X_129391742_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 129391742 T TA 300 PASS ZNF280C Ins intronic 1 6 MSH6 child X_129391742_TTA_MSH6 1 1 - - - - Ins bb70fa8e-3271-11e6-81c8-19f506e9a829 2_62450732_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 62450732 AT A 300 PASS B3GNT2 Del 3prime_UTR_variant 1 9 FANCC child 2_62450732_ATA_FANCC 1 1 1 T 8 T Repeat-mediated bb76c686-3270-11e6-8ebd-b79e4430f757 12_15457503_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 12 15457503 AT A 480 PASS RERG Del intronic 1 9 POLB child 12_15457503_ATA_POLB 1 1 1 T 8 T Repeat-mediated bb7950e0-3324-11e6-841a-c49690e2c2e6 6_3955362_CTC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 6 3955362 CT C 360 PASS - Del - 1 8 POLE child 6_3955362_CTC_POLE 1 1 1 T 7 T Repeat-mediated bb873fa6-328f-11e6-b97d-a8b305ad5bc4 20_13771329_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 13771329 GT G 540 PASS NDUFAF5 Del intronic 1 7 MSH6 child 20_13771329_GTG_MSH6 1 1 1 T 6 T Repeat-mediated bb8a4f58-3270-11e6-aafd-c7dee9d19ece 2_5672749_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 5672749 AT A 420 PASS - Del - 1 8 CHK2 child 2_5672749_ATA_CHK2 1 1 1 T 7 T Repeat-mediated bb942b36-3275-11e6-a71d-236235cec73b X_33053325_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 33053325 CT C 360 PASS DMD Del intronic 1 8 MSH6 child X_33053325_CTC_MSH6 1 1 1 T 7 T Repeat-mediated bba2ef6c-3285-11e6-b093-c9c7b0dab373 2_105627806_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 105627806 CA C 480 PASS - Del - 1 9 MSH6 child 2_105627806_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bbad2030-326d-11e6-9d68-ac9acab49462 15_67149432_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 67149432 TC T 720 PASS - Del - 1 1 MSH6 child 15_67149432_TCT_MSH6 1 1 0 - 0 C None bbbd1970-3279-11e6-a862-bc9becf1e924 1_243852128_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 243852128 C CT 480 PASS AKT3 Ins intronic 1 9 MSH6 child 1_243852128_CCT_MSH6 1 1 - - - - Ins bbbdf6ee-3277-11e6-9e0f-7959cab49462 7_150530916_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 150530916 GA G 300 PASS AOC1 Del intronic 1 9 MSH6 child 7_150530916_GAG_MSH6 1 1 1 A 8 A Repeat-mediated bbc90bd6-3256-11e6-885f-d1947872c165 4_41533401_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 41533401 TA T 300 PASS LIMCH1 Del intronic 1 9 MSH6 child 4_41533401_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bbe075b0-3282-11e6-b9fb-4420bce6aa09 9_84077386_AAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 9 84077386 A AC 300 PASS - Ins - 1 6 POLM child 9_84077386_AAC_POLM 1 1 - - - - Ins bbe236a2-3296-11e6-9458-5f42ead19ece 2_165063835_CCT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 2 165063835 C CT 300 PASS AC092684.1 Ins intronic 1 9 NUDT1 child 2_165063835_CCT_NUDT1 1 1 - - - - Ins bbe6b096-3283-11e6-9e76-639d69062303 8_30965156_CTCGC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 30965156 CTCG C 300 PASS WRN Del intronic 3 1 FANCC child 8_30965156_CTCGC_FANCC 3 3 1 T 0 - Microhomology-mediated bbe911b2-3286-11e6-a035-b215987b3f23 7_150776324_GGCTTTG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 7 150776324 GGCTTT G 600 PASS SLC4A2 Del downstream 5 1 NEIL1 parent 7_150776324_GGCTTTG_NEIL1 5 5 0 - 0 - None bbec0e28-3289-11e6-8909-3ebb38e8a824 9_89361473_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 9 89361473 TA T 300 PASS - Del - 1 9 NUDT1 parent 9_89361473_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated bbf26cc2-326c-11e6-adc2-b7204b47a305 18_9621864_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 9621864 AT A 300 PASS RP11-692N5.1 Del downstream 1 6 MSH6 child 18_9621864_ATA_MSH6 1 1 1 T 5 T Repeat-mediated bbf5a7f4-3279-11e6-9dfe-7ec135761512 1_91710120_GAG . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 1 91710120 GA G 720 PASS - Del - 1 4 FANCC parent 1_91710120_GAG_FANCC 1 1 1 A 3 A Repeat-mediated bc035f54-3281-11e6-9fd8-b56f2aaffa45 13_111580188_AAACA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 13 111580188 AAAC A 1020 PASS - Del - 3 1 POLE child 13_111580188_AAACA_POLE 3 3 2 AA 0 - Microhomology-mediated bc0a79c4-328b-11e6-a7cf-80090e01a414 15_91819056_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 91819056 CA C 360 PASS SV2B Del intronic 1 8 MSH6 child 15_91819056_CAC_MSH6 1 1 1 A 7 A Repeat-mediated bc168138-3254-11e6-9f9d-2c7a7872c165 12_80494632_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 80494632 CT C 540 PASS - Del - 1 9 MSH6 child 12_80494632_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bc2128b2-32a0-11e6-a04f-c66a25c9da85 6_93988425_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 93988425 GT G 840 PASS EPHA7 Del intronic 1 9 MSH6 child 6_93988425_GTG_MSH6 1 1 1 T 8 T Repeat-mediated bc273e3e-328a-11e6-a80b-87090e01a414 11_90532715_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 90532715 TA T 480 PASS DISC1FP1 Del intronic 1 9 MSH6 child 11_90532715_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bc2f67b6-3277-11e6-ab69-1c1607e9a829 9_104884100_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 104884100 C CT 360 PASS - Ins - 1 7 MSH6 child 9_104884100_CCT_MSH6 1 1 - - - - Ins bc302a46-3274-11e6-89b4-ff21a2c71c31 10_132484084_TAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 10 132484084 TA T 600 PASS - Del - 1 8 CHK2 child 10_132484084_TAT_CHK2 1 1 1 A 7 A Repeat-mediated bc30ed68-3275-11e6-a6a8-746da178171f 4_113433423_CAGAC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 4 113433423 CAGA C 1080 PASS NEUROG2 Del downstream 3 2 NEIL1 child 4_113433423_CAGAC_NEIL1 3 3 3 AGA 1 AGA Repeat-mediated bc346958-326f-11e6-bf40-308964f80bad 4_87936761_GGTG . HAP1_POLM_21 HAP1_parental_75_WT_DNA 4 87936761 GGT G 600 PASS AFF1 Del intronic 2 2 POLM parent 4_87936761_GGTG_POLM 2 2 2 GT 1 GT Repeat-mediated bc34a836-3275-11e6-8c34-46e27872c165 5_26040274_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 26040274 CT C 420 PASS - Del - 1 7 MSH6 child 5_26040274_CTC_MSH6 1 1 1 T 6 T Repeat-mediated bc4641a2-328b-11e6-8770-3e160e01a414 9_6459220_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 6459220 AG A 300 PASS UHRF2 Del intronic 1 1 MSH6 child 9_6459220_AGA_MSH6 1 1 0 - 0 G None bc55ae6a-3283-11e6-9607-56b01ac527ab 4_113952326_AATATATTACAAATTTTAATTTAAAATAAATGGAGGGAAGAGCTATACAACATTAGTATCTGTGAGACTCCTATTAAGATGCATTAGAAAAAAATTACTTTTATAATAATTTATTAATTGGCTCAAAATTTCTCTTTATTGCATTTTTCTGGAGATATTTATCTTTCCCTGAACCCATTCATTCATCTTGCCTTGGATCTATTTATTTAAGGACAGAGAGGATGCCGTGGGGACTGTTGCAGGGTAATGGGCAGATGGGCTGACTTCTTGCTTATTAGTAAGCTGGGATGATCTGACTCTAAACTTCTTCCTAAGGGA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 113952326 AATATATTACAAATTTTAATTTAAAATAAATGGAGGGAAGAGCTATACAACATTAGTATCTGTGAGACTCCTATTAAGATGCATTAGAAAAAAATTACTTTTATAATAATTTATTAATTGGCTCAAAATTTCTCTTTATTGCATTTTTCTGGAGATATTTATCTTTCCCTGAACCCATTCATTCATCTTGCCTTGGATCTATTTATTTAAGGACAGAGAGGATGCCGTGGGGACTGTTGCAGGGTAATGGGCAGATGGGCTGACTTCTTGCTTATTAGTAAGCTGGGATGATCTGACTCTAAACTTCTTCCTAAGGG A 420 PASS ANK2 Del intronic 316 1 FANCC child 4_113952326_AATATATTACAAATTTTAATTTAAAATAAATGGAGGGAAGAGCTATACAACATTAGTATCTGTGAGACTCCTATTAAGATGCATTAGAAAAAAATTACTTTTATAATAATTTATTAATTGGCTCAAAATTTCTCTTTATTGCATTTTTCTGGAGATATTTATCTTTCCCTGAACCCATTCATTCATCTTGCCTTGGATCTATTTATTTAAGGACAGAGAGGATGCCGTGGGGACTGTTGCAGGGTAATGGGCAGATGGGCTGACTTCTTGCTTATTAGTAAGCTGGGATGATCTGACTCTAAACTTCTTCCTAAGGGA_FANCC 316 >=10 3 ATA 0 - Microhomology-mediated bc5aee04-3290-11e6-b77d-2eef6f39e758 6_18866939_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 18866939 CA C 600 PASS - Del - 1 5 MSH6 child 6_18866939_CAC_MSH6 1 1 1 A 4 A Repeat-mediated bc6c2a2a-3290-11e6-8f31-bfe16f39e758 9_84422600_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 84422600 C CA 480 PASS - Ins - 1 8 MSH6 child 9_84422600_CCA_MSH6 1 1 - - - - Ins bc6c2e4c-3323-11e6-814a-c8fe4430f757 1_227946628_CAC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 1 227946628 CA C 540 PASS SNAP47 Del intronic 1 9 CHK2 child 1_227946628_CAC_CHK2 1 1 1 A 8 A Repeat-mediated bc6f04ce-328c-11e6-b8e6-91c36f39e758 11_78221987_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 78221987 TA T 780 PASS NARS2 Del intronic 1 7 MSH6 child 11_78221987_TAT_MSH6 1 1 1 A 6 A Repeat-mediated bc6f938a-3273-11e6-9065-cc4890e2c2e6 1_185149316_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 185149316 TA T 480 PASS SWT1 Del intronic 1 9 MSH6 parent 1_185149316_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bc770e52-326f-11e6-b923-6726694da5d2 5_18722537_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 18722537 CA C 360 PASS CTD-2023M8.1 Del intronic 1 9 MSH6 child 5_18722537_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bc77e05a-3285-11e6-a722-38d09b6d3b88 3_168022568_TAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 168022568 TA T 360 PASS - Del - 1 6 EXO1 child 3_168022568_TAT_EXO1 1 1 1 A 5 A Repeat-mediated bc79852e-3288-11e6-a32f-5b79a178171f 11_73158611_AAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 11 73158611 A AC 420 PASS FAM168A Ins intronic 1 1 FANCC child 11_73158611_AAC_FANCC 1 1 - - - - Ins bc80fb86-3258-11e6-8cd9-139b7872c165 3_94299524_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 94299524 AT A 300 PASS - Del - 1 4 MSH6 child 3_94299524_ATA_MSH6 1 1 1 T 3 T Repeat-mediated bc877ab8-328c-11e6-bcba-4aab4430f757 2_32111648_TAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 2 32111648 TA T 600 PASS MEMO1 Del intronic 1 5 POLE child 2_32111648_TAT_POLE 1 1 1 A 4 A Repeat-mediated bc9048b2-3270-11e6-a777-d57d9cdf095d 10_127051450_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 10 127051450 TA T 480 PASS - Del - 1 9 EXO1 parent 10_127051450_TAT_EXO1 1 1 1 A 8 A Repeat-mediated bc911dfc-328c-11e6-8256-94c36f39e758 17_60370304_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 60370304 TA T 290 PASS - Del - 1 9 MSH6 child 17_60370304_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bc914026-3321-11e6-881c-c18230158702 10_87286016_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 10 87286016 AT A 540 PASS - Del - 1 9 POLE child 10_87286016_ATA_POLE 1 1 1 T 8 T Repeat-mediated bc99c31c-3287-11e6-baf1-58044530f757 3_32189750_GAGAG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 3 32189750 GAGA G 660 PASS GPD1L Del intronic 3 2 EXO1 child 3_32189750_GAGAG_EXO1 3 3 3 AGA 1 AGA Repeat-mediated bc9efe56-328a-11e6-a380-15ec54de4fc4 1_164156227_GTG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 1 164156227 GT G 300 PASS - Del - 1 5 CHK2 child 1_164156227_GTG_CHK2 1 1 1 T 4 T Repeat-mediated bc9f57b2-3275-11e6-a71d-236235cec73b X_33496925_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 33496925 GA G 780 PASS - Del - 1 7 MSH6 child X_33496925_GAG_MSH6 1 1 1 A 6 A Repeat-mediated bca188e2-3285-11e6-86e9-d4770d016689 X_31497361_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 31497361 AT A 300 PASS DMD Del intronic 1 8 EXO1 child X_31497361_ATA_EXO1 1 1 1 T 7 T Repeat-mediated bcae0aa2-3273-11e6-8418-1c5942c4520d 3_156252511_CCCCAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 156252511 C CCCAG 660 PASS KCNAB1 Ins intronic 4 0 MSH6 child 3_156252511_CCCCAG_MSH6 4 4 - - - - Ins bcae91c6-328b-11e6-8256-94c36f39e758 17_10041446_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 10041446 AT A 420 PASS GAS7 Del intronic 1 9 MSH6 child 17_10041446_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bcbc918c-328f-11e6-9d97-efe56f39e758 4_74925796_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 74925796 AT A 480 PASS - Del - 1 9 MSH6 child 4_74925796_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bcbd1d72-326d-11e6-9d68-ac9acab49462 15_67207488_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 67207488 AT A 720 PASS RP11-798K3.4 Del upstream 1 8 MSH6 child 15_67207488_ATA_MSH6 1 1 1 T 7 T Repeat-mediated bcbec9bc-3275-11e6-a71d-236235cec73b X_33631872_ATTGTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 33631872 ATTGT A 600 PASS - Del - 4 2 MSH6 child X_33631872_ATTGTA_MSH6 4 4 4 TTGT 1 TTGT Repeat-mediated bcc2a722-328d-11e6-84e9-d36dfd44d094 2_140733640_GATG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 2 140733640 GAT G 480 PASS - Del - 2 5 POLM child 2_140733640_GATG_POLM 2 2 2 AT 4 AT Repeat-mediated bcc886aa-327f-11e6-97a4-78cfaa716c52 5_150718078_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 5 150718078 TA T 780 PASS SLC36A2 Del intronic 1 9 POLB parent 5_150718078_TAT_POLB 1 1 1 A 8 A Repeat-mediated bccc22ac-328d-11e6-94e1-63e1191589db 3_33250135_GTATTCTCTTTTTTCTCTGTATTGATG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 33250135 GTATTCTCTTTTTTCTCTGTATTGAT G 300 PASS SUSD5 Del intronic 25 1 FANCC child 3_33250135_GTATTCTCTTTTTTCTCTGTATTGATG_FANCC 25 >=10 1 T 0 - Microhomology-mediated bcce7b7e-3256-11e6-885f-d1947872c165 4_41775920_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 41775920 CA C 420 PASS RNU1-49P Del upstream 1 9 MSH6 child 4_41775920_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bcef5094-3272-11e6-b439-e34b3cfdbd24 2_123822871_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 123822871 CT C 540 PASS AC062020.2 Del upstream 1 9 MSH6 parent 2_123822871_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bcf6b62a-3288-11e6-9453-299c20e7b7a8 2_114549941_GTCG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 2 114549941 GTC G 475 PASS - Del - 2 2 POLE child 2_114549941_GTCG_POLE 2 2 2 TC 1 TC Repeat-mediated bcfedd9a-3289-11e6-b1ba-6def1da8ec0e 1_205528921_AAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 205528921 A AG 360 PASS - Ins - 1 1 EXO1 child 1_205528921_AAG_EXO1 1 1 - - - - Ins bd063bb0-3326-11e6-9eb4-dd99cf737e61 8_116547723_AGCATATATATAGCA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 116547723 AGCATATATATAGC A 360 PASS TRPS1 Del intronic 13 2 EXO1 child 8_116547723_AGCATATATATAGCA_EXO1 13 >=10 13 GCATATATATAGC 1 AT Microhomology-mediated bd09c09e-334b-11e6-be18-768ca20b69d5 3_194720464_CACTTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 194720464 CACTT C 360 PASS - Del - 4 1 FANCC child 3_194720464_CACTTC_FANCC 4 4 2 AC 0 - Microhomology-mediated bd0a20ec-3284-11e6-91c1-9ac3b0dab373 21_45242493_AAGA . HAP1_POLE_34 HAP1_parental_75_WT_DNA 21 45242493 AAG A 480 PASS - Del - 2 2 POLE parent 21_45242493_AAGA_POLE 2 2 2 AG 1 AG Repeat-mediated bd101fdc-3280-11e6-9a3a-b76f2aaffa45 16_7699218_TAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 16 7699218 TA T 780 PASS RBFOX1 Del intronic 1 9 POLE child 16_7699218_TAT_POLE 1 1 1 A 8 A Repeat-mediated bd13b386-3271-11e6-961c-b84b3cfdbd24 18_53424478_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 18 53424478 AT A 480 PASS RP11-397A16.1 Del intronic 1 9 MSH6 parent 18_53424478_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bd17bd00-3253-11e6-8ebc-3ef212ae24cf 15_26360063_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 26360063 GT G 540 PASS LINC00929 Del upstream 1 6 MSH6 child 15_26360063_GTG_MSH6 1 1 1 T 5 T Repeat-mediated bd226bba-3325-11e6-bd6e-9bc7cde16804 6_88262351_TAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 6 88262351 TA T 720 PASS RARS2 Del intronic 1 8 CHK2 child 6_88262351_TAT_CHK2 1 1 1 A 7 A Repeat-mediated bd265c9e-3275-11e6-83cd-a472a178171f 4_47536764_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 47536764 GT G 900 PASS ATP10D Del intronic 1 3 MSH6 child 4_47536764_GTG_MSH6 1 1 1 T 2 T Repeat-mediated bd269aa8-3287-11e6-839a-bb9738e8a824 8_92473682_CCACTT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 8 92473682 C CACTT 540 PASS - Ins - 4 0 POLE parent 8_92473682_CCACTT_POLE 4 4 - - - - Ins bd291174-3274-11e6-a5d0-4fd14a47a305 2_204251016_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 204251016 CT C 300 PASS ABI2 Del intronic 1 8 MSH6 child 2_204251016_CTC_MSH6 1 1 1 T 7 T Repeat-mediated bd2eca0c-32a0-11e6-a04f-c66a25c9da85 6_94328354_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 94328354 GA G 900 PASS - Del - 1 8 MSH6 child 6_94328354_GAG_MSH6 1 1 1 A 7 A Repeat-mediated bd2f1422-3290-11e6-9401-04ed6f39e758 3_50693165_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 50693165 TG T 540 PASS - Del - 1 6 MSH6 child 3_50693165_TGT_MSH6 1 1 1 G 5 G Repeat-mediated bd3356e0-3272-11e6-b636-ce0fead19ece 12_82426045_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 12 82426045 AT A 480 PASS - Del - 1 7 NEIL1 child 12_82426045_ATA_NEIL1 1 1 1 T 6 T Repeat-mediated bd3412ce-329f-11e6-bc2c-2a5e25c9da85 4_180227315_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 180227315 AT A 720 PASS - Del - 1 7 MSH6 child 4_180227315_ATA_MSH6 1 1 1 T 6 T Repeat-mediated bd35bb6c-3284-11e6-a1ac-fd6da2c71c31 13_49257628_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 49257628 CT C 600 PASS - Del - 1 8 MSH6 child 13_49257628_CTC_MSH6 1 1 1 T 7 T Repeat-mediated bd3d1874-3254-11e6-b4d0-327a7872c165 11_78157012_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 78157012 AT A 300 PASS NARS2 Del intronic 1 1 MSH6 child 11_78157012_ATA_MSH6 1 1 0 - 0 T None bd3d51fe-3290-11e6-bd11-15ea6f39e758 21_40232784_TTTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 21 40232784 T TTG 480 PASS - Ins - 2 4 MSH6 child 21_40232784_TTTG_MSH6 2 2 - - - - Ins bd47f3b4-3283-11e6-b412-3b859cdf095d 2_230212633_GTG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 2 230212633 GT G 420 PASS - Del - 1 8 POLE child 2_230212633_GTG_POLE 1 1 1 T 7 T Repeat-mediated bd482312-3287-11e6-a8ac-a28ea2c71c31 3_12094949_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 12094949 CA C 540 PASS - Del - 1 7 MSH6 child 3_12094949_CAC_MSH6 1 1 1 A 6 A Repeat-mediated bd490726-328e-11e6-81d1-7ea5e7d0bdd7 3_107192403_CAC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 3 107192403 CA C 720 PASS - Del - 1 9 POLM child 3_107192403_CAC_POLM 1 1 1 A 8 A Repeat-mediated bd4a3cf6-328c-11e6-919e-92c36f39e758 2_82915285_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 82915285 CT C 360 PASS - Del - 1 9 MSH6 child 2_82915285_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bd5168ec-3290-11e6-919e-92c36f39e758 2_98569379_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 98569379 G GA 600 PASS TMEM131 Ins intronic 1 3 MSH6 child 2_98569379_GGA_MSH6 1 1 - - - - Ins bd524590-328c-11e6-b6a6-1f1e0e01a414 4_18692584_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 18692584 AT A 300 PASS - Del - 1 8 MSH6 child 4_18692584_ATA_MSH6 1 1 1 T 7 T Repeat-mediated bd539fa6-329d-11e6-a5cf-e5abcc638e3d 9_115222699_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 115222699 CT C 480 PASS HSDL2 Del intronic 1 7 MSH6 child 9_115222699_CTC_MSH6 1 1 1 T 6 T Repeat-mediated bd602982-3253-11e6-8ebc-3ef212ae24cf 15_26475395_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 26475395 TA T 360 PASS - Del - 1 9 MSH6 child 15_26475395_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bd646460-329a-11e6-8069-175325c9da85 12_53587403_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 53587403 TG T 300 PASS ZNF740 Del downstream 1 7 MSH6 child 12_53587403_TGT_MSH6 1 1 1 G 6 G Repeat-mediated bd646d02-3259-11e6-8340-da9012ae24cf 6_85664912_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 85664912 TA T 540 PASS - Del - 1 6 MSH6 child 6_85664912_TAT_MSH6 1 1 1 A 5 A Repeat-mediated bd67beb8-326c-11e6-b2ac-b6204b47a305 17_6732123_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 6732123 CT C 960 PASS TEKT1 Del intronic 1 9 MSH6 child 17_6732123_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bd6ee86e-328a-11e6-bbaf-7c090e01a414 19_50458856_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 50458856 TA T 300 PASS SIGLEC11 Del intronic 1 9 MSH6 child 19_50458856_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bd71110c-3271-11e6-8454-c65566a58581 13_89134975_TAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 13 89134975 TA T 300 PASS - Del - 1 9 FANCC child 13_89134975_TAT_FANCC 1 1 1 A 8 A Repeat-mediated bd7c71e8-326f-11e6-8c6e-e9d52aaffa45 18_10587000_GGT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 18 10587000 G GT 420 PASS - Ins - 1 8 POLM child 18_10587000_GGT_POLM 1 1 - - - - Ins bd7efad6-3282-11e6-9d44-8fbe2daed38e 5_40732713_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 5 40732713 AT A 780 PASS TTC33 Del intronic 1 9 POLB child 5_40732713_ATA_POLB 1 1 1 T 8 T Repeat-mediated bd81a264-3272-11e6-b539-d702ebb8d062 7_39768687_CTC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 39768687 CT C 420 PASS LINC00265 Del upstream 1 8 NUDT1 child 7_39768687_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated bd820832-3284-11e6-821e-69f1bbe6aa09 16_31400833_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 31400833 CA C 420 PASS ITGAD Del upstream 1 7 MSH6 child 16_31400833_CAC_MSH6 1 1 1 A 6 A Repeat-mediated bd857296-328f-11e6-9d24-ade56f39e758 7_75471664_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 75471664 AT A 420 PASS - Del - 1 9 MSH6 child 7_75471664_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bd89fd86-3323-11e6-8ccd-5c056323ba5a 2_147474554_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 147474554 CA C 480 PASS - Del - 1 4 EXO1 child 2_147474554_CAC_EXO1 1 1 1 A 3 A Repeat-mediated bd9347b2-3272-11e6-83ef-69fb06e9a829 18_24176229_GCTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 24176229 GCT G 540 PASS KCTD1 Del intronic 2 8 MSH6 child 18_24176229_GCTG_MSH6 2 2 2 CT 7 CT Repeat-mediated bd93f188-3274-11e6-ab69-1c1607e9a829 9_8083283_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 8083283 CT C 420 PASS - Del - 1 9 MSH6 child 9_8083283_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bdadd4a4-327e-11e6-94ee-5ee4b41afd22 9_115592061_GTG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 9 115592061 GT G 300 PASS SNX30 Del intronic 1 9 POLM child 9_115592061_GTG_POLM 1 1 1 T 8 T Repeat-mediated bdb6eeea-3292-11e6-9458-5f42ead19ece 2_84736527_CTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 2 84736527 CT C 408 PASS - Del - 1 7 NUDT1 child 2_84736527_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated bdbcba88-329b-11e6-ae71-0c5325c9da85 1_101911202_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 101911202 CT C 660 PASS - Del - 1 7 MSH6 child 1_101911202_CTC_MSH6 1 1 1 T 6 T Repeat-mediated bdc36190-3290-11e6-b3a9-d5afe7d0bdd7 4_61463614_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 61463614 CT C 300 PASS - Del - 1 8 FANCC child 4_61463614_CTC_FANCC 1 1 1 T 7 T Repeat-mediated bdd284ee-3287-11e6-956d-004290e2c2e6 X_133712696_CTC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA X 133712696 CT C 346 PASS PLAC1 Del intronic 1 9 POLE child X_133712696_CTC_POLE 1 1 1 T 8 T Repeat-mediated bdd34976-3276-11e6-83cd-a472a178171f 4_124030021_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 124030021 AT A 360 PASS SPATA5 Del intronic 1 9 MSH6 child 4_124030021_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bdd8c2c2-328d-11e6-88c1-95c36f39e758 14_56055694_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 56055694 G GA 360 PASS KTN1 Ins intronic 1 8 MSH6 child 14_56055694_GGA_MSH6 1 1 - - - - Ins bddd98c6-3277-11e6-90fa-056466a58581 4_93567593_AAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 93567593 A AT 300 PASS GRID2 Ins intronic 1 5 FANCC child 4_93567593_AAT_FANCC 1 1 - - - - Ins bdde5f62-3296-11e6-b3f4-ce65a178171f X_64693957_TCTAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA X 64693957 TCTA T 900 PASS - Del - 3 2 POLB child X_64693957_TCTAT_POLB 3 3 3 CTA 1 CTA Repeat-mediated bdde87dc-328a-11e6-8eee-76090e01a414 10_95867640_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 95867640 CA C 420 PASS PLCE1 Del intronic 1 8 MSH6 child 10_95867640_CAC_MSH6 1 1 1 A 7 A Repeat-mediated bde6b476-328e-11e6-b81f-4ee66f39e758 8_4483166_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 4483166 TA T 660 PASS CSMD1 Del intronic 1 9 MSH6 child 8_4483166_TAT_MSH6 1 1 1 A 8 A Repeat-mediated bdea6c56-3289-11e6-88e0-fc9512ae24cf 14_56847633_ATA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 14 56847633 AT A 480 PASS - Del - 1 7 CHK2 child 14_56847633_ATA_CHK2 1 1 1 T 6 T Repeat-mediated bdeb6dce-3273-11e6-88b6-40832aaffa45 1_28068061_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 28068061 TA T 420 PASS FAM76A Del intronic 1 8 EXO1 child 1_28068061_TAT_EXO1 1 1 1 A 7 A Repeat-mediated bdfc0f56-329d-11e6-b696-dd6225c9da85 5_41803435_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 41803435 CA C 660 PASS OXCT1 Del intronic 1 9 MSH6 child 5_41803435_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bdff79c4-328f-11e6-9230-fb250e01a414 3_121925856_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 121925856 CA C 360 PASS CASR Del intronic 1 7 MSH6 child 3_121925856_CAC_MSH6 1 1 1 A 6 A Repeat-mediated be0758ea-3287-11e6-ab7a-289c20e7b7a8 19_10177262_CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGCGGCATGTGCCTGTATTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAAATAAAATAAATAAGTAATCTATTATACTCATATTATTATTTATTTATAACCTAAATAAATAAATATAGGCCAGTCAGTGTGATC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 19 10177262 CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGCGGCATGTGCCTGTATTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAAATAAAATAAATAAGTAATCTATTATACTCATATTATTATTTATTTATAACCTAAATAAATAAATATAGGCCAGTCAGTGTGAT C 300 PASS - Del - 368 1 POLE child 19_10177262_CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGCGGCATGTGCCTGTATTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAAATAAAATAAATAAGTAATCTATTATACTCATATTATTATTTATTTATAACCTAAATAAATAAATATAGGCCAGTCAGTGTGATC_POLE 368 >=10 31 TCATGCCTGTAATCCCAGCACTTTGGGAGGC 0 - Microhomology-mediated be0be63a-3273-11e6-8f33-a6d9cde16804 11_121972432_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 121972432 GA G 300 PASS MIR125B1 Del upstream 1 9 MSH6 child 11_121972432_GAG_MSH6 1 1 1 A 8 A Repeat-mediated be1886ae-329d-11e6-b696-dd6225c9da85 5_41881769_CATC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 41881769 CAT C 540 PASS - Del - 2 6 MSH6 child 5_41881769_CATC_MSH6 2 2 2 AT 5 AT Repeat-mediated be1d49d6-3258-11e6-8340-da9012ae24cf 6_18392098_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 18392098 CA C 360 PASS RNF144B Del intronic 1 9 MSH6 child 6_18392098_CAC_MSH6 1 1 1 A 8 A Repeat-mediated be1eb862-3289-11e6-a100-84090e01a414 18_34058479_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 34058479 AT A 540 PASS FHOD3 Del intronic 1 8 MSH6 child 18_34058479_ATA_MSH6 1 1 1 T 7 T Repeat-mediated be230ed0-3284-11e6-8ebc-68f1bbe6aa09 18_43674631_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 43674631 CA C 300 PASS ATP5A1 Del intronic 1 9 MSH6 child 18_43674631_CAC_MSH6 1 1 1 A 8 A Repeat-mediated be264f20-3287-11e6-8404-8e1fbce6aa09 8_49297840_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 49297840 TA T 540 PASS - Del - 1 9 MSH6 child 8_49297840_TAT_MSH6 1 1 1 A 8 A Repeat-mediated be2657d6-3273-11e6-a42e-2f51e7d0bdd7 1_63282516_GTG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 1 63282516 GT G 300 PASS ATG4C Del intronic 1 7 POLB child 1_63282516_GTG_POLB 1 1 1 T 6 T Repeat-mediated be2dd03a-328f-11e6-b837-bf257a852e0e 13_39725147_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 13 39725147 GA G 300 PASS - Del - 1 8 CHK2 child 13_39725147_GAG_CHK2 1 1 1 A 7 A Repeat-mediated be358076-32a0-11e6-bc66-17b4cc638e3d 8_130333809_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 130333809 GA G 600 PASS - Del - 1 8 MSH6 child 8_130333809_GAG_MSH6 1 1 1 A 7 A Repeat-mediated be38cc6a-3276-11e6-8c34-46e27872c165 5_94354027_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 94354027 AT A 600 PASS MCTP1 Del intronic 1 9 MSH6 child 5_94354027_ATA_MSH6 1 1 1 T 8 T Repeat-mediated be3b6eb6-3320-11e6-9963-fc8c38e8a824 11_59191178_GCAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 11 59191178 GCA G 960 PASS OR5A2 Del upstream 2 5 POLE child 11_59191178_GCAG_POLE 2 2 2 CA 4 CA Repeat-mediated be418e6e-3284-11e6-97d5-6cf1bbe6aa09 17_28124949_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 28124949 GT G 1020 PASS SSH2 Del intronic 1 9 MSH6 child 17_28124949_GTG_MSH6 1 1 1 T 8 T Repeat-mediated be49e852-3257-11e6-91d3-a68412ae24cf 7_94617125_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 94617125 GT G 600 PASS PPP1R9A Del intronic 1 6 MSH6 child 7_94617125_GTG_MSH6 1 1 1 T 5 T Repeat-mediated be4d3d74-328c-11e6-b4fe-93c36f39e758 12_71091356_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 71091356 AT A 480 PASS PTPRR Del intronic 1 9 MSH6 child 12_71091356_ATA_MSH6 1 1 1 T 8 T Repeat-mediated be50cba4-327f-11e6-afd6-7a186ee4ab00 7_10388596_AAGA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 7 10388596 AAG A 420 PASS - Del - 2 5 POLB parent 7_10388596_AAGA_POLB 2 2 2 AG 4 AG Repeat-mediated be515f1e-3280-11e6-ae55-ef338e4678dd 14_36348080_CTTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 14 36348080 CTT C 600 PASS RP11-317N8.3 Del downstream 2 4 EXO1 child 14_36348080_CTTC_EXO1 2 2 2 TT 2 T Repeat-mediated be5bbee0-3286-11e6-baa3-81ed1da8ec0e X_109044886_TTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 109044886 T TA 360 PASS - Ins - 1 4 EXO1 child X_109044886_TTA_EXO1 1 1 - - - - Ins be603272-328b-11e6-bd84-429305ad5bc4 1_27386638_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 27386638 GT G 360 PASS - Del - 1 9 MSH6 child 1_27386638_GTG_MSH6 1 1 1 T 8 T Repeat-mediated be669010-328e-11e6-919e-92c36f39e758 2_217113453_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 217113453 CA C 420 PASS - Del - 1 8 MSH6 child 2_217113453_CAC_MSH6 1 1 1 A 7 A Repeat-mediated be709bf8-328b-11e6-ae83-60cc977b3f23 19_14417398_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 19 14417398 AT A 900 PASS CTC-548K16.2 Del intronic 1 7 NEIL1 child 19_14417398_ATA_NEIL1 1 1 1 T 6 T Repeat-mediated be76bd00-3257-11e6-9d15-298312ae24cf X_63120757_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 63120757 GA G 300 PASS - Del - 1 8 MSH6 child X_63120757_GAG_MSH6 1 1 1 A 7 A Repeat-mediated be77fabc-3257-11e6-acc5-308412ae24cf 5_96306398_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 96306398 CT C 780 PASS LNPEP Del intronic 1 5 MSH6 child 5_96306398_CTC_MSH6 1 1 1 T 4 T Repeat-mediated be78ab08-3282-11e6-be4f-569ffc77b11e 6_85908144_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 6 85908144 GA G 420 PASS - Del - 1 9 POLB parent 6_85908144_GAG_POLB 1 1 1 A 8 A Repeat-mediated be87a31c-326c-11e6-9d68-ac9acab49462 15_24515730_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 24515730 AT A 420 PASS RP11-580I1.2 Del intronic 1 9 MSH6 child 15_24515730_ATA_MSH6 1 1 1 T 8 T Repeat-mediated be89507e-328d-11e6-9d41-3ba5e7d0bdd7 11_11105976_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 11 11105976 AT A 360 PASS - Del - 1 9 FANCC child 11_11105976_ATA_FANCC 1 1 1 T 8 T Repeat-mediated be910790-3271-11e6-b439-e34b3cfdbd24 2_48018103_ATGGAGGGTTACCCCA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 2 48018103 ATGGAGGGTTACCCC A 960 PASS MSH6 Del frameshift 14 1 MSH6 parent 2_48018103_ATGGAGGGTTACCCCA_MSH6 14 >=10 3 TGG 0 - Microhomology-mediated be92982a-3290-11e6-90b2-d6ec98816cf3 8_69032158_TAGAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 8 69032158 TAGA T 480 PASS PREX2 Del intronic 3 2 POLB child 8_69032158_TAGAT_POLB 3 3 3 AGA 1 AGA Repeat-mediated be94897c-329b-11e6-b129-195325c9da85 16_88913542_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 88913542 CT C 600 PASS GALNS Del intronic 1 7 MSH6 child 16_88913542_CTC_MSH6 1 1 1 T 6 T Repeat-mediated be99327c-328e-11e6-b837-1e9fe7d0bdd7 4_184773835_CTC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 4 184773835 CT C 286 PASS - Del - 1 7 POLM child 4_184773835_CTC_POLM 1 1 1 T 6 T Repeat-mediated be9dbb30-327f-11e6-ba36-88d64dc77248 7_100094465_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 7 100094465 AT A 1020 PASS NYAP1 Del downstream 1 9 NUDT1 child 7_100094465_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated bea0550a-3286-11e6-8404-8e1fbce6aa09 8_22638964_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 22638964 CT C 660 PASS PEBP4 Del intronic 1 9 MSH6 child 8_22638964_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bea14426-3289-11e6-ad64-7189a178171f 5_90378657_CTTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 5 90378657 CTT C 300 PASS GPR98 Del intronic 2 5 FANCC child 5_90378657_CTTC_FANCC 2 2 2 TT 3 T Repeat-mediated bea53d42-3284-11e6-8b67-086ea2c71c31 1_27616747_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 27616747 AT A 624 PASS WDTC1 Del intronic 1 8 MSH6 child 1_27616747_ATA_MSH6 1 1 1 T 7 T Repeat-mediated bea92c2e-326e-11e6-9d68-ac9acab49462 15_89032549_CGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 89032549 CG C 840 PASS - Del - 1 6 MSH6 child 15_89032549_CGC_MSH6 1 1 1 G 5 G Repeat-mediated beab99c4-3281-11e6-a980-68393dc9300a 18_21176549_TAT . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 18 21176549 TA T 420 PASS ANKRD29 Del downstream 1 9 FANCC child 18_21176549_TAT_FANCC 1 1 1 A 8 A Repeat-mediated bead0324-3284-11e6-a0a8-096ea2c71c31 11_34207952_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 34207952 TC T 720 PASS ABTB2 Del intronic 1 6 MSH6 child 11_34207952_TCT_MSH6 1 1 1 C 5 C Repeat-mediated beb3aa46-3273-11e6-b113-44c2bbe6aa09 16_72643349_CTC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 16 72643349 CT C 420 PASS AC004158.2 Del intronic 1 6 POLB child 16_72643349_CTC_POLB 1 1 1 T 5 T Repeat-mediated bec5094c-3324-11e6-8b24-4ab97d6a9fc7 4_17294722_AAACA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 4 17294722 AAAC A 540 PASS - Del - 3 6 EXO1 child 4_17294722_AAACA_EXO1 3 3 3 AAC 5 AAC Repeat-mediated becad8da-3280-11e6-8767-7cd94dc77248 6_131966130_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 6 131966130 AT A 360 PASS ENPP3 Del intronic 1 8 NUDT1 child 6_131966130_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated bed5b3ae-3320-11e6-a17c-098c64f80bad 14_23799879_ACCACCATGCCTGGCTAATTTTTTGTTTTTTTATTATTTATTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGAGCAATGGAGCGATCTTGGCTCACTGCAACCTCAGTCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGCCGTGCACCACCAAGCTCGTCTAATTTTTTTATTTTTTAGTAGAGATGGCGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGCGCAGGGCCAGAATTTTATTATATTTTATTTTTTGTAAAGATGAGATCTTGCTATGTTGCCCAAGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCACAAAGTGCTTGGATTACAGGCATAAGA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 14 23799879 ACCACCATGCCTGGCTAATTTTTTGTTTTTTTATTATTTATTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGAGCAATGGAGCGATCTTGGCTCACTGCAACCTCAGTCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGCCGTGCACCACCAAGCTCGTCTAATTTTTTTATTTTTTAGTAGAGATGGCGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGCGCAGGGCCAGAATTTTATTATATTTTATTTTTTGTAAAGATGAGATCTTGCTATGTTGCCCAAGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCACAAAGTGCTTGGATTACAGGCATAAG A 300 PASS PABPN1 Del downstream 460 1 EXO1 child 14_23799879_ACCACCATGCCTGGCTAATTTTTTGTTTTTTTATTATTTATTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGAGCAATGGAGCGATCTTGGCTCACTGCAACCTCAGTCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGCCGTGCACCACCAAGCTCGTCTAATTTTTTTATTTTTTAGTAGAGATGGCGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGCGCAGGGCCAGAATTTTATTATATTTTATTTTTTGTAAAGATGAGATCTTGCTATGTTGCCCAAGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCACAAAGTGCTTGGATTACAGGCATAAGA_EXO1 460 >=10 14 CCACCATGCCTGGC 0 - Microhomology-mediated bedbcc88-32a0-11e6-a04f-c66a25c9da85 6_94618469_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 94618469 GT G 420 PASS - Del - 1 7 MSH6 child 6_94618469_GTG_MSH6 1 1 1 T 6 T Repeat-mediated bee1e84e-328b-11e6-ac7a-a3c36f39e758 18_13863286_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 13863286 GA G 480 PASS - Del - 1 7 MSH6 child 18_13863286_GAG_MSH6 1 1 1 A 6 A Repeat-mediated bee1f724-328d-11e6-b9c4-751d0e01a414 5_99446309_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 99446309 AT A 720 PASS - Del - 1 8 MSH6 child 5_99446309_ATA_MSH6 1 1 1 T 7 T Repeat-mediated beefd8f8-326f-11e6-aff7-9ad52aaffa45 1_78971333_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 1 78971333 AT A 720 PASS PTGFR Del intronic 1 8 NEIL1 child 1_78971333_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated bef0dede-3278-11e6-be3d-b594a20b69d5 4_96098826_CCAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 4 96098826 C CAT 480 PASS UNC5C Ins intronic 2 4 EXO1 child 4_96098826_CCAT_EXO1 2 2 - - - - Ins bef14e42-329a-11e6-9048-b49fcc638e3d 17_38649418_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 38649418 CA C 780 PASS TNS4 Del intronic 1 8 MSH6 child 17_38649418_CAC_MSH6 1 1 1 A 7 A Repeat-mediated befc6772-329b-11e6-a5cf-205325c9da85 11_119015951_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 119015951 CT C 960 PASS ABCG4 Del upstream 1 7 MSH6 child 11_119015951_CTC_MSH6 1 1 1 T 6 T Repeat-mediated befd2154-3286-11e6-b093-c9c7b0dab373 2_193141111_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 193141111 TA T 300 PASS - Del - 1 6 MSH6 child 2_193141111_TAT_MSH6 1 1 1 A 5 A Repeat-mediated befdca1e-3277-11e6-bc24-bc6e3cfdbd24 6_108425819_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 108425819 AT A 720 PASS - Del - 1 8 MSH6 parent 6_108425819_ATA_MSH6 1 1 1 T 7 T Repeat-mediated bf1bb954-329d-11e6-a5ec-650998ba1142 6_107723482_CCA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 6 107723482 C CA 480 PASS PDSS2 Ins intronic 1 9 CHK2 child 6_107723482_CCA_CHK2 1 1 - - - - Ins bf269bf4-3283-11e6-ae26-b8936f39e758 16_2189128_CACAAAAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 16 2189128 CACAAAA C 360 PASS PKD1 Del upstream 6 2 EXO1 child 16_2189128_CACAAAAC_EXO1 6 6 6 ACAAAA 1 A Microhomology-mediated bf3dff0c-328c-11e6-bd84-429305ad5bc4 1_165492949_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 165492949 AT A 300 PASS - Del - 1 7 MSH6 child 1_165492949_ATA_MSH6 1 1 1 T 6 T Repeat-mediated bf415d90-3283-11e6-9607-56b01ac527ab 4_115533374_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 115533374 TA T 540 PASS UGT8 Del intronic 1 9 FANCC child 4_115533374_TAT_FANCC 1 1 1 A 8 A Repeat-mediated bf458640-32a1-11e6-94ca-0aaecc638e3d X_150741495_CCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 150741495 C CG 360 PASS PASD1 Ins intronic 1 5 MSH6 child X_150741495_CCG_MSH6 1 1 - - - - Ins bf4d58c8-3258-11e6-9a2b-33a52aaffa45 3_117679002_TCT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 3 117679002 TC T 600 PASS LSAMP Del intronic 1 7 POLM child 3_117679002_TCT_POLM 1 1 1 C 6 C Repeat-mediated bf50385e-328a-11e6-9c89-8d090e01a414 1_81582345_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 81582345 CT C 420 PASS - Del - 1 8 MSH6 child 1_81582345_CTC_MSH6 1 1 1 T 7 T Repeat-mediated bf5172f6-3284-11e6-a032-41f0137bb207 1_225509135_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 1 225509135 GA G 420 PASS DNAH14 Del intronic 1 8 NEIL1 parent 1_225509135_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated bf5a3648-328e-11e6-b21e-ac230625f869 13_51555816_CCTTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 13 51555816 CCTT C 420 PASS - Del - 3 1 NEIL1 child 13_51555816_CCTTC_NEIL1 3 3 2 CT 0 - Microhomology-mediated bf613b52-3278-11e6-9e0f-7959cab49462 7_55585636_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 55585636 C CA 480 PASS VOPP1 Ins intronic 1 6 MSH6 child 7_55585636_CCA_MSH6 1 1 - - - - Ins bf67a688-3271-11e6-8418-1c5942c4520d 3_170127066_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 170127066 CT C 360 PASS RP11-469J4.3 Del upstream 1 9 MSH6 child 3_170127066_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bf6aa8c0-327a-11e6-ab1d-16d9ecf1e924 20_60979236_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 60979236 CA C 540 PASS CABLES2 Del intronic 1 9 MSH6 child 20_60979236_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bf6c090a-327e-11e6-a700-ff0e9ecd0b3a 4_74661753_GAG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 4 74661753 GA G 534 PASS - Del - 1 9 POLM child 4_74661753_GAG_POLM 1 1 1 A 8 A Repeat-mediated bf773b98-3271-11e6-b5b8-e0c24a47a305 X_4287729_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 4287729 T TA 420 PASS - Ins - 1 7 MSH6 child X_4287729_TTA_MSH6 1 1 - - - - Ins bf7a5972-3271-11e6-9aa1-4a144530f757 13_23031861_TTCTTCACAAGGT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 13 23031861 TTCTTCACAAGG T 360 PASS - Del - 11 1 NUDT1 child 13_23031861_TTCTTCACAAGGT_NUDT1 11 >=10 1 T 0 - Microhomology-mediated bf8129e4-326e-11e6-bc62-6d4742c4520d 16_70282837_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 70282837 T TA 360 PASS AARS Ins downstream 1 9 MSH6 child 16_70282837_TTA_MSH6 1 1 - - - - Ins bf818302-3274-11e6-bfb2-2749c225ee11 12_13978992_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 13978992 G GT 600 PASS GRIN2B Ins intronic 1 6 MSH6 child 12_13978992_GGT_MSH6 1 1 - - - - Ins bf8775a0-329c-11e6-aca6-b39fcc638e3d 2_193185480_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 193185480 TA T 280 PASS - Del - 1 8 MSH6 child 2_193185480_TAT_MSH6 1 1 1 A 7 A Repeat-mediated bf87d59c-329a-11e6-ae71-0c5325c9da85 1_41533827_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 41533827 CT C 600 PASS SCMH1 Del intronic 1 3 MSH6 child 1_41533827_CTC_MSH6 1 1 1 T 2 T Repeat-mediated bf8cd3a4-328a-11e6-b805-77090e01a414 2_96645522_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 96645522 GA G 520 PASS ANKRD36C Del intronic 1 8 MSH6 child 2_96645522_GAG_MSH6 1 1 1 A 7 A Repeat-mediated bf8e2838-3287-11e6-a21c-b819bce6aa09 X_123069628_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 123069628 CA C 420 PASS - Del - 1 9 MSH6 child X_123069628_CAC_MSH6 1 1 1 A 8 A Repeat-mediated bf979140-3285-11e6-a0a8-096ea2c71c31 11_127566125_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 127566125 GT G 540 PASS - Del - 1 7 MSH6 child 11_127566125_GTG_MSH6 1 1 1 T 6 T Repeat-mediated bf9ad6a6-328b-11e6-b90a-464ed5dcf142 5_74237323_CTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 5 74237323 CT C 420 PASS CTD-2503O16.4 Del intronic 1 7 NUDT1 child 5_74237323_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated bf9dd7d4-3281-11e6-9cfc-ec8590e2c2e6 1_119199586_GGT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 1 119199586 G GT 300 PASS - Ins - 1 7 NUDT1 child 1_119199586_GGT_NUDT1 1 1 - - - - Ins bfa3a7ba-3284-11e6-9f05-70ef1da8ec0e 10_90623371_ACA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 10 90623371 AC A 360 PASS - Del - 1 3 EXO1 child 10_90623371_ACA_EXO1 1 1 1 C 2 C Repeat-mediated bfa43cda-328d-11e6-b6a6-1f1e0e01a414 4_78932770_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 78932770 CT C 420 PASS - Del - 1 9 MSH6 child 4_78932770_CTC_MSH6 1 1 1 T 8 T Repeat-mediated bfa9db18-3256-11e6-9d15-298312ae24cf X_46718079_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 46718079 AT A 540 PASS RP2 Del intronic 1 9 MSH6 child X_46718079_ATA_MSH6 1 1 1 T 8 T Repeat-mediated bfad6158-328c-11e6-ae4c-6bbfcc638e3d 7_95201974_GTAG . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 7 95201974 GTA G 300 PASS - Del - 2 6 NUDT1 child 7_95201974_GTAG_NUDT1 2 2 2 TA 5 TA Repeat-mediated bfb590a2-3274-11e6-b332-88ba7d6a9fc7 15_96812955_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 96812955 GA G 840 PASS - Del - 1 9 MSH6 child 15_96812955_GAG_MSH6 1 1 1 A 8 A Repeat-mediated bfb95e14-3272-11e6-b332-88ba7d6a9fc7 15_35357891_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 35357891 TA T 540 PASS - Del - 1 7 MSH6 child 15_35357891_TAT_MSH6 1 1 1 A 6 A Repeat-mediated bfbd7664-328d-11e6-bf99-1e6bfc77b11e 11_99137767_TAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 11 99137767 TA T 540 PASS CNTN5 Del intronic 1 9 POLE child 11_99137767_TAT_POLE 1 1 1 A 8 A Repeat-mediated bfc3ee78-3273-11e6-8f33-a6d9cde16804 11_122512248_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 122512248 CA C 540 PASS - Del - 1 8 MSH6 child 11_122512248_CAC_MSH6 1 1 1 A 7 A Repeat-mediated bfc3fe6a-3285-11e6-a722-38d09b6d3b88 3_169327071_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 169327071 CT C 420 PASS MECOM Del intronic 1 8 EXO1 child 3_169327071_CTC_EXO1 1 1 1 T 7 T Repeat-mediated bfc953f6-3271-11e6-b923-6726694da5d2 5_167178734_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 167178734 GT G 420 PASS TENM2 Del intronic 1 8 MSH6 child 5_167178734_GTG_MSH6 1 1 1 T 7 T Repeat-mediated bfca96da-3253-11e6-a4a7-35f212ae24cf 14_32318122_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 32318122 GA G 660 PASS NUBPL Del intronic 1 7 MSH6 child 14_32318122_GAG_MSH6 1 1 1 A 6 A Repeat-mediated bfcbfde6-328e-11e6-9432-c0e56f39e758 5_13747332_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 13747332 CT C 648 PASS DNAH5 Del intronic 1 6 MSH6 child 5_13747332_CTC_MSH6 1 1 1 T 5 T Repeat-mediated bfe3572c-3278-11e6-92d2-c259c225ee11 3_179020402_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 179020402 CA C 780 PASS - Del - 1 5 MSH6 child 3_179020402_CAC_MSH6 1 1 1 A 4 A Repeat-mediated bfe96614-326c-11e6-b9f4-5d1d694da5d2 14_30990780_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 30990780 AT A 360 PASS - Del - 1 8 MSH6 child 14_30990780_ATA_MSH6 1 1 1 T 7 T Repeat-mediated bfed87c6-3285-11e6-bb60-c21d694da5d2 6_69797521_GGT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 6 69797521 G GT 360 PASS BAI3 Ins intronic 1 2 NEIL1 child 6_69797521_GGT_NEIL1 1 1 - - - - Ins bfedf738-328a-11e6-8459-82090e01a414 12_88366430_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 88366430 CT C 604 PASS - Del - 1 7 MSH6 child 12_88366430_CTC_MSH6 1 1 1 T 6 T Repeat-mediated bff1d204-3276-11e6-9732-2a7ea2c71c31 22_31190183_TAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 22 31190183 TA T 540 PASS OSBP2 Del intronic 1 8 NEIL1 child 22_31190183_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated bff7288e-329a-11e6-8069-175325c9da85 12_53911256_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 53911256 CT C 300 PASS ATF7 Del intronic 1 8 MSH6 child 12_53911256_CTC_MSH6 1 1 1 T 7 T Repeat-mediated bff86f50-329a-11e6-b74d-b59fcc638e3d 18_59400071_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 59400071 AT A 840 PASS RP11-879F14.1 Del intronic 1 5 MSH6 child 18_59400071_ATA_MSH6 1 1 1 T 4 T Repeat-mediated c005f622-3284-11e6-a8af-066ea2c71c31 15_43545411_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 43545411 TA T 420 PASS TGM5 Del intronic 1 6 MSH6 child 15_43545411_TAT_MSH6 1 1 1 A 5 A Repeat-mediated c0104a54-328f-11e6-9d97-efe56f39e758 4_76129335_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 76129335 CA C 900 PASS - Del - 1 8 MSH6 child 4_76129335_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c01210fe-329f-11e6-aea7-956725c9da85 3_79653387_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 79653387 CA C 780 PASS ROBO1 Del intronic 1 8 MSH6 child 3_79653387_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c0162a02-3292-11e6-b77d-2eef6f39e758 6_155074308_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 155074308 CA C 480 PASS SCAF8 Del intronic 1 5 MSH6 child 6_155074308_CAC_MSH6 1 1 1 A 4 A Repeat-mediated c017be92-326c-11e6-9fba-41ebd8b4fa2c 11_9213564_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 9213564 AT A 360 PASS DENND5A Del intronic 1 8 MSH6 child 11_9213564_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c01b95f2-3286-11e6-ba61-6079a178171f 2_69700868_GAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 2 69700868 GA G 480 PASS AAK1 Del 3prime_UTR_variant 1 7 FANCC child 2_69700868_GAG_FANCC 1 1 1 A 6 A Repeat-mediated c030fc58-3272-11e6-bfb2-2749c225ee11 12_26593935_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 26593935 GA G 840 PASS ITPR2 Del intronic 1 7 MSH6 child 12_26593935_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c040e4aa-3282-11e6-8fa3-1d15038949d4 4_32456267_CCTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 4 32456267 CCT C 360 PASS - Del - 2 5 POLM child 4_32456267_CCTC_POLM 2 2 2 CT 4 CT Repeat-mediated c0431afc-329d-11e6-b696-dd6225c9da85 5_42653020_ATCTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 42653020 ATCT A 420 PASS GHR Del intronic 3 3 MSH6 child 5_42653020_ATCTA_MSH6 3 3 3 TCT 2 TCT Repeat-mediated c0454288-3288-11e6-a8ac-a28ea2c71c31 3_109194772_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 109194772 CT C 720 PASS RP11-702L6.4 Del intronic 1 7 MSH6 child 3_109194772_CTC_MSH6 1 1 1 T 6 T Repeat-mediated c0474e12-3278-11e6-92a4-517690e2c2e6 20_25224832_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 20 25224832 AT A 540 PASS PYGB Del upstream 1 8 MSH6 parent 20_25224832_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c04ef55a-3259-11e6-a39a-dc8512ae24cf 8_142388178_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 142388178 CT C 300 PASS - Del - 1 4 MSH6 child 8_142388178_CTC_MSH6 1 1 1 T 3 T Repeat-mediated c0500b48-3290-11e6-b81f-4ee66f39e758 8_69037997_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 69037997 AT A 660 PASS PREX2 Del intronic 1 8 MSH6 child 8_69037997_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c0570a7c-326f-11e6-a539-0e5542c4520d 7_55925681_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 55925681 GA G 480 PASS SEPT14 Del intronic 1 9 MSH6 child 7_55925681_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c058f75c-328c-11e6-b9c4-751d0e01a414 5_33709631_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 33709631 TA T 540 PASS ADAMTS12 Del intronic 1 5 MSH6 child 5_33709631_TAT_MSH6 1 1 1 A 4 A Repeat-mediated c063fa82-328a-11e6-aff5-85090e01a414 16_80682579_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 80682579 GA G 480 PASS CDYL2 Del intronic 1 8 MSH6 child 16_80682579_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c06d5894-328e-11e6-b4fe-93c36f39e758 12_53697251_GGAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 53697251 G GAC 780 PASS AAAS Ins downstream 2 3 MSH6 child 12_53697251_GGAC_MSH6 2 2 - - - - Ins c06eb984-3273-11e6-8418-1c5942c4520d 3_158089216_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 158089216 C CT 300 PASS RSRC1 Ins intronic 1 8 MSH6 child 3_158089216_CCT_MSH6 1 1 - - - - Ins c0732cd6-3259-11e6-a304-347a7872c165 1_190792036_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 190792036 C CA 300 PASS - Ins - 1 7 MSH6 child 1_190792036_CCA_MSH6 1 1 - - - - Ins c07d0e1a-329d-11e6-91d0-016425c9da85 7_17400545_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 17400545 CT C 660 PASS - Del - 1 7 MSH6 child 7_17400545_CTC_MSH6 1 1 1 T 6 T Repeat-mediated c07def66-326f-11e6-a0a7-943dc225ee11 1_50546815_AATCA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 50546815 AATC A 480 PASS ELAVL4 Del intronic 3 2 EXO1 parent 1_50546815_AATCA_EXO1 3 3 3 ATC 1 ATC Repeat-mediated c080429c-3270-11e6-b923-6726694da5d2 5_89650627_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 89650627 CA C 300 PASS RP11-61G23.2 Del intronic 1 8 MSH6 child 5_89650627_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c0867314-3271-11e6-b923-6726694da5d2 5_167411664_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 167411664 GA G 360 PASS TENM2 Del intronic 1 9 MSH6 child 5_167411664_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c086d17c-325a-11e6-8cd9-139b7872c165 3_36715216_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 36715216 G GA 600 PASS - Ins - 1 7 MSH6 child 3_36715216_GGA_MSH6 1 1 - - - - Ins c08b49a8-329d-11e6-91d0-016425c9da85 7_17407404_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 17407404 AT A 480 PASS - Del - 1 6 MSH6 child 7_17407404_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c08f3652-3285-11e6-a722-38d09b6d3b88 3_169692437_ACTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 3 169692437 ACT A 720 PASS SEC62 Del intronic 2 2 EXO1 child 3_169692437_ACTA_EXO1 2 2 2 CT 1 CT Repeat-mediated c08f747c-329a-11e6-8069-175325c9da85 12_53975663_TTGGGAGGCTAAAGCAGGAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 53975663 TTGGGAGGCTAAAGCAGGA T 720 PASS ATF7 Del intronic 18 1 MSH6 child 12_53975663_TTGGGAGGCTAAAGCAGGAT_MSH6 18 >=10 0 - 0 - None c091aed2-329e-11e6-bc2c-2a5e25c9da85 4_121795051_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 121795051 GT G 660 PASS PRDM5 Del intronic 1 7 MSH6 child 4_121795051_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c0938ffe-3271-11e6-8418-1c5942c4520d 3_170604774_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 170604774 CT C 360 PASS EIF5A2 Del downstream 1 9 MSH6 child 3_170604774_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c0989508-3280-11e6-a31e-d655f7d33ce3 1_1423294_TGTGAT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 1 1423294 TGTGA T 480 PASS ATAD3B Del ess_splice 4 1 NUDT1 child 1_1423294_TGTGAT_NUDT1 4 4 3 GTG 0 - Microhomology-mediated c09c7b30-3322-11e6-8a20-9a0d75253f64 9_14823015_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 9 14823015 CT C 660 PASS FREM1 Del intronic 1 8 CHK2 child 9_14823015_CTC_CHK2 1 1 1 T 7 T Repeat-mediated c0a12730-3290-11e6-92cf-bf2a0e01a414 6_124923455_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 124923455 AT A 360 PASS NKAIN2 Del intronic 1 6 MSH6 child 6_124923455_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c0b4bcb8-3282-11e6-8597-c8186ee4ab00 8_140494489_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 8 140494489 GA G 600 PASS - Del - 1 9 POLB parent 8_140494489_GAG_POLB 1 1 1 A 8 A Repeat-mediated c0b57494-3270-11e6-bfba-13bf4a47a305 9_84327551_CCAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 84327551 C CAT 300 PASS RP11-154D17.1 Ins intronic 2 0 MSH6 child 9_84327551_CCAT_MSH6 2 2 - - - - Ins c0b6a374-326f-11e6-9f48-94df41c4520d 12_120420683_AAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 120420683 A AG 660 PASS - Ins - 1 3 MSH6 child 12_120420683_AAG_MSH6 1 1 - - - - Ins c0b6c1aa-3284-11e6-a2c9-149290e2c2e6 3_191735242_GGA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 191735242 G GA 420 PASS - Ins - 1 5 NUDT1 child 3_191735242_GGA_NUDT1 1 1 - - - - Ins c0b8881a-326f-11e6-b923-6726694da5d2 5_20087443_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 20087443 TA T 300 PASS CDH18 Del intronic 1 8 MSH6 child 5_20087443_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c0bd0a7c-3281-11e6-ba12-fc09694da5d2 3_39574781_ATATA . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 3 39574781 ATAT A 300 PASS - Del - 3 2 NEIL1 child 3_39574781_ATATA_NEIL1 3 3 3 TAT 1 TAT Repeat-mediated c0bee0e0-3259-11e6-9d15-298312ae24cf X_94764877_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 94764877 C CA 420 PASS - Ins - 1 7 MSH6 child X_94764877_CCA_MSH6 1 1 - - - - Ins c0c14168-3287-11e6-b32c-fd87a2c71c31 5_167958098_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 167958098 TA T 780 PASS - Del - 1 1 MSH6 child 5_167958098_TAT_MSH6 1 1 0 - 0 A None c0c2cbd6-3288-11e6-baf1-58044530f757 3_124143107_ATA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 3 124143107 AT A 420 PASS KALRN Del intronic 1 9 EXO1 child 3_124143107_ATA_EXO1 1 1 1 T 8 T Repeat-mediated c0c83070-3289-11e6-a100-84090e01a414 18_34694997_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 34694997 CA C 360 PASS KIAA1328 Del intronic 1 8 MSH6 child 18_34694997_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c0cc7564-3274-11e6-a60b-c9c89d7ad846 7_17555096_CAC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 7 17555096 CA C 720 PASS AC017060.1 Del intronic 1 7 NEIL1 child 7_17555096_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated c0d43844-328d-11e6-b6a6-1f1e0e01a414 4_79216161_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 79216161 CT C 660 PASS FRAS1 Del intronic 1 9 MSH6 child 4_79216161_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c0d5ed6e-328e-11e6-919e-92c36f39e758 2_217702204_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 217702204 AT A 480 PASS - Del - 1 8 MSH6 child 2_217702204_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c0e40de8-3272-11e6-b4c7-c8d4ed3c4f5d 10_104164966_TGAGT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 10 104164966 TGAG T 600 PASS PSD Del inframe 3 1 NEIL1 child 10_104164966_TGAGT_NEIL1 3 3 2 GA 0 - Microhomology-mediated c0eba09e-3290-11e6-b81f-4ee66f39e758 8_69192037_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 69192037 CA C 323 PASS - Del - 1 8 MSH6 child 8_69192037_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c0ee31e6-328c-11e6-b8e6-91c36f39e758 11_79739193_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 79739193 CT C 300 PASS - Del - 1 8 MSH6 child 11_79739193_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c104d808-326c-11e6-b2ac-b6204b47a305 17_7471913_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 7471913 GA G 280 PASS EIF4A1 Del upstream 1 9 MSH6 child 17_7471913_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c1054a7c-3276-11e6-9241-55e60d01a414 8_130034736_TGAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 8 130034736 TGA T 360 PASS - Del - 2 5 MSH6 parent 8_130034736_TGAT_MSH6 2 2 2 GA 4 GA Repeat-mediated c1056b0e-3287-11e6-af7e-81c435cec73b 4_83421757_TAAGT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 4 83421757 TAAG T 480 PASS TMEM150C Del intronic 3 1 POLE child 4_83421757_TAAGT_POLE 3 3 1 A 0 - Microhomology-mediated c10c721c-3275-11e6-88aa-2d54a966024e 7_124931128_CTC . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 7 124931128 CT C 480 PASS RP11-3B12.2 Del intronic 1 6 MSH6 parent 7_124931128_CTC_MSH6 1 1 1 T 5 T Repeat-mediated c10fb50e-327e-11e6-97a4-78cfaa716c52 5_38206455_TAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 5 38206455 TA T 360 PASS - Del - 1 9 POLB parent 5_38206455_TAT_POLB 1 1 1 A 8 A Repeat-mediated c119c340-3289-11e6-a7cf-80090e01a414 15_41636835_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 41636835 CA C 360 PASS NUSAP1 Del intronic 1 9 MSH6 child 15_41636835_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c1207a5c-3287-11e6-8404-8e1fbce6aa09 8_51097372_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 51097372 GA G 480 PASS SNTG1 Del intronic 1 8 MSH6 child 8_51097372_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c12590f6-328b-11e6-88c1-95c36f39e758 14_32427350_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 32427350 TA T 720 PASS - Del - 1 6 MSH6 child 14_32427350_TAT_MSH6 1 1 1 A 5 A Repeat-mediated c13bfd92-3285-11e6-a8af-066ea2c71c31 15_79901847_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 79901847 TA T 660 PASS - Del - 1 3 MSH6 child 15_79901847_TAT_MSH6 1 1 1 A 2 A Repeat-mediated c13c79d2-328c-11e6-8256-94c36f39e758 17_61212887_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 61212887 CT C 720 PASS TANC2 Del intronic 1 9 MSH6 child 17_61212887_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c13ec1de-3290-11e6-9401-04ed6f39e758 3_51489624_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 51489624 CA C 300 PASS VPRBP Del intronic 1 8 MSH6 child 3_51489624_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c144698a-3291-11e6-9230-fb250e01a414 3_46565375_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 46565375 A AT 420 PASS LRRC2 Ins intronic 1 7 MSH6 child 3_46565375_AAT_MSH6 1 1 - - - - Ins c14856be-3276-11e6-92d2-c259c225ee11 3_32525252_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 32525252 TA T 540 PASS CMTM6 Del 3prime_UTR_variant 1 9 MSH6 child 3_32525252_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c14fea6a-3293-11e6-8b9f-eea73adbad45 3_43506810_AAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 43506810 A AC 540 PASS ANO10 Ins intronic 1 1 NEIL1 child 3_43506810_AAC_NEIL1 1 1 - - - - Ins c1548bfe-328b-11e6-a80b-87090e01a414 11_13327345_TTTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 13327345 T TTG 540 PASS ARNTL Ins intronic 2 6 MSH6 child 11_13327345_TTTG_MSH6 2 2 - - - - Ins c1626394-3256-11e6-a304-347a7872c165 1_223497265_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 223497265 TA T 300 PASS SUSD4 Del intronic 1 9 MSH6 child 1_223497265_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c1663604-326f-11e6-b923-6726694da5d2 5_20307263_TAGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 20307263 TAG T 300 PASS CDH18 Del intronic 2 5 MSH6 child 5_20307263_TAGT_MSH6 2 2 2 AG 4 AG Repeat-mediated c16c3d6c-326d-11e6-9d68-ac9acab49462 15_67600076_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 67600076 TA T 300 PASS IQCH Del intronic 1 7 MSH6 child 15_67600076_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c16f8100-3256-11e6-a39a-dc8512ae24cf 8_7001104_CAATC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 7001104 CAAT C 337 PASS - Del - 3 2 MSH6 child 8_7001104_CAATC_MSH6 3 3 3 AAT 1 AAT Repeat-mediated c1703b6e-3273-11e6-b332-88ba7d6a9fc7 15_71452615_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 71452615 CT C 420 PASS THSD4 Del intronic 1 8 MSH6 child 15_71452615_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c1798e18-329a-11e6-a5cf-205325c9da85 11_59315905_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 59315905 AC A 420 PASS - Del - 1 8 MSH6 child 11_59315905_ACA_MSH6 1 1 1 C 7 C Repeat-mediated c17dc908-3293-11e6-a1c8-fb347a852e0e 7_78497309_GAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 7 78497309 GA G 622 PASS MAGI2 Del intronic 1 9 CHK2 child 7_78497309_GAG_CHK2 1 1 1 A 8 A Repeat-mediated c17e0d2a-3282-11e6-b933-8181c042253c 10_87393331_CAC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 10 87393331 CA C 300 PASS GRID1 Del intronic 1 4 FANCC child 10_87393331_CAC_FANCC 1 1 1 A 3 A Repeat-mediated c183f2da-325a-11e6-8b28-55ad7872c165 20_7695750_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 7695750 CA C 360 PASS - Del - 1 8 MSH6 child 20_7695750_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c1944e48-328a-11e6-aff5-85090e01a414 16_81003796_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 81003796 GA G 420 PASS - Del - 1 7 MSH6 child 16_81003796_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c19812da-328f-11e6-bb1e-70e16f39e758 X_113624486_TTAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 113624486 TTA T 360 PASS - Del - 2 5 MSH6 child X_113624486_TTAT_MSH6 2 2 2 TA 4 TA Repeat-mediated c19cfdaa-3275-11e6-9e25-e58e2aaffa45 4_26436734_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 26436734 AT A 600 PASS RBPJ Del downstream 1 8 EXO1 child 4_26436734_ATA_EXO1 1 1 1 T 7 T Repeat-mediated c1a51950-3323-11e6-925a-9564694da5d2 2_221779338_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 2 221779338 AT A 420 PASS - Del - 1 8 POLE child 2_221779338_ATA_POLE 1 1 1 T 7 T Repeat-mediated c1ac83ae-326d-11e6-92dd-fda8977b3f23 10_88651419_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 88651419 CT C 420 PASS BMPR1A Del intronic 1 8 MSH6 child 10_88651419_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c1b29358-3285-11e6-839a-bb9738e8a824 8_94208488_TCTCT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 8 94208488 TCTC T 540 PASS - Del - 3 1 POLE parent 8_94208488_TCTCT_POLE 3 3 2 CT 0 - Microhomology-mediated c1c5ef24-3272-11e6-ba3c-6216cd638e3d 7_48543593_ATTATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 7 48543593 ATTAT A 300 PASS ABCA13 Del intronic 4 1 NEIL1 child 7_48543593_ATTATA_NEIL1 4 4 2 TT 0 - Microhomology-mediated c1d51e9e-3282-11e6-9f1b-17f0137bb207 16_89855048_ATA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 16 89855048 AT A 420 PASS FANCA Del intronic 1 8 FANCC child 16_89855048_ATA_FANCC 1 1 1 T 7 T Repeat-mediated c1d70c18-3273-11e6-9c0f-f6f412ae24cf 16_52637428_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 16 52637428 AT A 420 PASS CASC16 Del intronic 1 1 EXO1 child 16_52637428_ATA_EXO1 1 1 0 - 0 T None c1d804dc-326f-11e6-9309-bdc34a47a305 8_42921566_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 42921566 AT A 300 PASS FNTA Del intronic 1 7 MSH6 child 8_42921566_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c1dae384-3254-11e6-89d3-d29498816cf3 2_135832632_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 135832632 TA T 540 PASS RAB3GAP1 Del intronic 1 9 MSH6 child 2_135832632_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c1dc209c-326c-11e6-9fba-41ebd8b4fa2c 11_9393325_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 9393325 GT G 300 PASS - Del - 1 7 MSH6 child 11_9393325_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c1e2538a-3290-11e6-9777-62d8191589db 5_163341107_TTA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 163341107 T TA 660 PASS - Ins - 1 7 FANCC child 5_163341107_TTA_FANCC 1 1 - - - - Ins c1e5b97e-3274-11e6-b332-88ba7d6a9fc7 15_97382899_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 97382899 TA T 480 PASS - Del - 1 8 MSH6 child 15_97382899_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c1e61172-328c-11e6-b4fe-93c36f39e758 12_72163688_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 72163688 CT C 360 PASS RAB21 Del intronic 1 9 MSH6 child 12_72163688_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c1ea5916-3288-11e6-8404-8e1fbce6aa09 8_139913050_TCCATCCAGCTTTGGAGGCTGG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 139913050 TCCATCCAGCTT TGGAGGCTGG 420 PASS COL22A1 Complex intronic 11 0 MSH6 child 8_139913050_TCCATCCAGCTTTGGAGGCTGG_MSH6 2 2 - - - - Complex c1ebf284-32a2-11e6-bc66-17b4cc638e3d 8_93080333_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 93080333 G GT 780 PASS RUNX1T1 Ins intronic 1 7 MSH6 child 8_93080333_GGT_MSH6 1 1 - - - - Ins c1f5574a-326e-11e6-bfba-13bf4a47a305 9_29484590_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 29484590 CA C 360 PASS - Del - 1 8 MSH6 child 9_29484590_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c2026292-3272-11e6-826a-adb6fa52e078 17_21526577_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 21526577 CT C 292 PASS - Del - 1 8 MSH6 child 17_21526577_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c202a652-3291-11e6-b3a9-d5afe7d0bdd7 4_154468294_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 154468294 GA G 660 PASS KIAA0922 Del intronic 1 9 FANCC child 4_154468294_GAG_FANCC 1 1 1 A 8 A Repeat-mediated c204287e-32a0-11e6-bc66-17b4cc638e3d 8_131146597_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 131146597 TA T 1020 PASS ASAP1 Del splice_region 1 9 MSH6 child 8_131146597_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c208ce24-328c-11e6-b43c-7ec36f39e758 16_73358137_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 73358137 GT G 600 PASS - Del - 1 8 MSH6 child 16_73358137_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c20981c8-328e-11e6-b960-ae6919a91649 15_41147297_TGCCAGGCGTGGTGGCTCACACTTATAATCCCAGCGCTTTGAGAGGCCGAGGCTGGCAGATTGCTTGAGCTCAGGAGTTCAAGACCAGCGTGGGCAATATGGCAAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGATGTGGTTGCGCGTTCCTGTACTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCACTTGAACCTGGGAGGTAGAGACTGCAGTCAGTTGAGATGGAACCACTGCACCTCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAACAATAATAATAATAATAAGCTCTAGCTAGTTGCTTGCCTGCCAAGGCTCAGACCCTGAGGCCCATCCTCTTTTTTAAGAAAGGTAAACCAT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 15 41147297 TGCCAGGCGTGGTGGCTCACACTTATAATCCCAGCGCTTTGAGAGGCCGAGGCTGGCAGATTGCTTGAGCTCAGGAGTTCAAGACCAGCGTGGGCAATATGGCAAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGATGTGGTTGCGCGTTCCTGTACTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCACTTGAACCTGGGAGGTAGAGACTGCAGTCAGTTGAGATGGAACCACTGCACCTCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAACAATAATAATAATAATAAGCTCTAGCTAGTTGCTTGCCTGCCAAGGCTCAGACCCTGAGGCCCATCCTCTTTTTTAAGAAAGGTAAACCA T 300 PASS SPINT1 Del intronic 375 1 NEIL1 child 15_41147297_TGCCAGGCGTGGTGGCTCACACTTATAATCCCAGCGCTTTGAGAGGCCGAGGCTGGCAGATTGCTTGAGCTCAGGAGTTCAAGACCAGCGTGGGCAATATGGCAAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGATGTGGTTGCGCGTTCCTGTACTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCACTTGAACCTGGGAGGTAGAGACTGCAGTCAGTTGAGATGGAACCACTGCACCTCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAACAATAATAATAATAATAAGCTCTAGCTAGTTGCTTGCCTGCCAAGGCTCAGACCCTGAGGCCCATCCTCTTTTTTAAGAAAGGTAAACCAT_NEIL1 375 >=10 16 GCCAGGCGTGGTGGCT 0 - Microhomology-mediated c20b1ede-3275-11e6-a862-bc9becf1e924 1_226422078_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 226422078 TA T 480 PASS LIN9 Del intronic 1 6 MSH6 child 1_226422078_TAT_MSH6 1 1 1 A 5 A Repeat-mediated c20efacc-3324-11e6-a066-657f12ae24cf X_130604960_CTC . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA X 130604960 CT C 340 PASS - Del - 1 9 POLE child X_130604960_CTC_POLE 1 1 1 T 8 T Repeat-mediated c2108582-327e-11e6-b73f-448daea0a4d2 2_227585569_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 2 227585569 GA G 540 PASS - Del - 1 9 POLB parent 2_227585569_GAG_POLB 1 1 1 A 8 A Repeat-mediated c21317be-328a-11e6-b805-77090e01a414 2_97321455_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 97321455 CT C 360 PASS - Del - 1 9 MSH6 child 2_97321455_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c22845a8-326c-11e6-9d68-ac9acab49462 15_25631878_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 25631878 GA G 300 PASS UBE3A Del intronic 1 7 MSH6 child 15_25631878_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c237478c-326d-11e6-9f48-94df41c4520d 12_92563739_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 92563739 GT G 660 PASS - Del - 1 8 MSH6 child 12_92563739_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c2437e10-3274-11e6-975f-8246cab49462 16_51097867_CCAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 51097867 C CAT 660 PASS - Ins - 2 2 MSH6 child 16_51097867_CCAT_MSH6 2 2 - - - - Ins c243dab8-3323-11e6-9c20-925172d7bc54 3_7403853_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 3 7403853 AT A 360 PASS GRM7 Del intronic 1 7 EXO1 child 3_7403853_ATA_EXO1 1 1 1 T 6 T Repeat-mediated c2550294-328c-11e6-bd84-429305ad5bc4 1_166972784_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 166972784 TA T 540 PASS MAEL Del intronic 1 4 MSH6 child 1_166972784_TAT_MSH6 1 1 1 A 3 A Repeat-mediated c260ae54-3292-11e6-8c3d-0ab4e7d0bdd7 3_171460731_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 3 171460731 CT C 300 PASS PLD1 Del intronic 1 9 FANCC child 3_171460731_CTC_FANCC 1 1 1 T 8 T Repeat-mediated c2629738-3291-11e6-b81f-4ee66f39e758 8_145281364_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 145281364 CT C 420 PASS MROH1 Del intronic 1 9 MSH6 child 8_145281364_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c265ecce-328e-11e6-bec1-ca1d0e01a414 X_121893719_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 121893719 AT A 660 PASS - Del - 1 5 MSH6 child X_121893719_ATA_MSH6 1 1 1 T 4 T Repeat-mediated c26addbe-329e-11e6-aea7-956725c9da85 3_17582928_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 17582928 AT A 840 PASS TBC1D5 Del intronic 1 8 MSH6 child 3_17582928_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c27d0c22-3286-11e6-a284-4b89a2c71c31 4_20001188_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 20001188 GA G 360 PASS - Del - 1 9 MSH6 child 4_20001188_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c27d5a06-3272-11e6-94cc-1ec335cec73b 19_11195291_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 11195291 CA C 695 PASS LDLR Del upstream 1 9 MSH6 child 19_11195291_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c2815442-3288-11e6-a8ac-a28ea2c71c31 3_110341897_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 110341897 GT G 600 PASS - Del - 1 7 MSH6 child 3_110341897_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c28f04c2-3290-11e6-9401-04ed6f39e758 3_51787502_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 51787502 GT G 480 PASS - Del - 1 8 MSH6 child 3_51787502_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c28ff18a-3258-11e6-8cd9-139b7872c165 3_96898137_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 96898137 AT A 540 PASS EPHA6 Del intronic 1 7 MSH6 child 3_96898137_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c291acf0-3285-11e6-be43-0a6ea2c71c31 10_116988973_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 116988973 TA T 540 PASS ATRNL1 Del intronic 1 6 MSH6 child 10_116988973_TAT_MSH6 1 1 1 A 5 A Repeat-mediated c299334a-3289-11e6-815f-e4cd191589db 14_73020253_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 14 73020253 AT A 300 PASS RGS6 Del intronic 1 6 FANCC child 14_73020253_ATA_FANCC 1 1 1 T 5 T Repeat-mediated c299848c-327d-11e6-9c0f-26bd1da8ec0e 8_48164346_AGA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 8 48164346 AG A 720 PASS - Del - 1 7 FANCC parent 8_48164346_AGA_FANCC 1 1 1 G 6 G Repeat-mediated c29a11dc-328b-11e6-8770-3e160e01a414 9_8090489_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 8090489 AT A 420 PASS - Del - 1 4 MSH6 child 9_8090489_ATA_MSH6 1 1 1 T 3 T Repeat-mediated c2a31f3c-326f-11e6-9f48-94df41c4520d 12_120946194_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 120946194 C CA 480 PASS COQ5 Ins intronic 1 8 MSH6 child 12_120946194_CCA_MSH6 1 1 - - - - Ins c2acd72a-3274-11e6-a5d0-4fd14a47a305 2_206168065_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 206168065 AT A 720 PASS PARD3B Del intronic 1 6 MSH6 child 2_206168065_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c2b06c34-329f-11e6-bc66-17b4cc638e3d 8_59512589_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 59512589 GA G 720 PASS NSMAF Del splice_region 1 9 MSH6 child 8_59512589_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c2b423dc-3282-11e6-845d-6b29bce6aa09 X_115733130_TAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA X 115733130 TA T 420 PASS - Del - 1 9 POLM child X_115733130_TAT_POLM 1 1 1 A 8 A Repeat-mediated c2ccef40-3253-11e6-b4d0-327a7872c165 11_16411095_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 16411095 AT A 720 PASS SOX6 Del intronic 1 9 MSH6 child 11_16411095_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c2df5994-3273-11e6-90ac-b4c37872c165 8_60052316_CTCTGC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 60052316 CTCTG C 660 PASS - Del - 4 2 NEIL1 child 8_60052316_CTCTGC_NEIL1 4 4 4 TCTG 1 TCTG Repeat-mediated c2e30e54-328c-11e6-919e-92c36f39e758 2_84228614_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 84228614 GA G 540 PASS - Del - 1 9 MSH6 child 2_84228614_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c2e916f2-327b-11e6-92d2-c259c225ee11 3_196147045_AAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 196147045 A AG 300 PASS UBXN7 Ins intronic 1 6 MSH6 child 3_196147045_AAG_MSH6 1 1 - - - - Ins c2ee5522-3276-11e6-8caa-7235b51afd22 9_135111110_TGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 9 135111110 TG T 720 PASS NTNG2 Del intronic 1 7 EXO1 child 9_135111110_TGT_EXO1 1 1 1 G 6 G Repeat-mediated c2ee687e-3275-11e6-a71d-236235cec73b X_36836842_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 36836842 CA C 540 PASS - Del - 1 8 MSH6 child X_36836842_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c2f2398a-328f-11e6-b97d-a8b305ad5bc4 20_18204754_CTTTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 18204754 CTTT C 540 PASS - Del - 3 3 MSH6 child 20_18204754_CTTTC_MSH6 3 3 0 - 0 - None c2f5ae54-3275-11e6-ab69-1c1607e9a829 9_95359017_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 95359017 TA T 420 PASS CENPP Del intronic 1 8 MSH6 child 9_95359017_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c2f5cf44-3287-11e6-a284-4b89a2c71c31 4_113035988_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 113035988 CA C 1260 PASS - Del - 1 9 MSH6 child 4_113035988_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c30ced9c-327c-11e6-864f-47be4dc77248 17_44069504_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 17 44069504 TA T 540 PASS MAPT Del intronic 1 9 NUDT1 child 17_44069504_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated c30e5bba-3258-11e6-8cd9-139b7872c165 3_97395432_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 97395432 CT C 360 PASS EPHA6 Del intronic 1 6 MSH6 child 3_97395432_CTC_MSH6 1 1 1 T 5 T Repeat-mediated c30fad78-326f-11e6-9309-bdc34a47a305 8_43307167_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 43307167 GA G 300 PASS - Del - 1 9 MSH6 child 8_43307167_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c3131888-3278-11e6-83cd-a472a178171f 4_64473819_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 64473819 A AT 480 PASS - Ins - 1 8 MSH6 child 4_64473819_AAT_MSH6 1 1 - - - - Ins c31ab14e-326c-11e6-acc7-e55219a91649 1_31926862_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 31926862 TA T 480 PASS - Del - 1 5 MSH6 child 1_31926862_TAT_MSH6 1 1 1 A 4 A Repeat-mediated c32f26a2-3270-11e6-b5b8-e0c24a47a305 X_85159043_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 85159043 TA T 300 PASS CHM Del intronic 1 7 MSH6 child X_85159043_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c338bfb2-329a-11e6-8069-175325c9da85 12_54424862_CGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 54424862 CG C 780 PASS HOXC6 Del downstream 1 6 MSH6 child 12_54424862_CGC_MSH6 1 1 1 G 5 G Repeat-mediated c339bc9a-3278-11e6-92d2-c259c225ee11 3_179702140_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 179702140 AT A 960 PASS PEX5L Del intronic 1 9 MSH6 child 3_179702140_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c33c161e-328e-11e6-8e48-791e0e01a414 8_77310107_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 77310107 GA G 300 PASS - Del - 1 7 MSH6 child 8_77310107_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c3400136-3273-11e6-94cc-1ec335cec73b 19_48610106_GTCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 48610106 GTC G 360 PASS PLA2G4C Del intronic 2 5 MSH6 child 19_48610106_GTCG_MSH6 2 2 2 TC 4 TC Repeat-mediated c345c2fe-3275-11e6-a71d-236235cec73b X_37242860_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 37242860 AT A 660 PASS PRRG1 Del intronic 1 7 MSH6 child X_37242860_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c34c5416-328e-11e6-92cf-bf2a0e01a414 6_6119681_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 6119681 TA T 300 PASS - Del - 1 9 MSH6 child 6_6119681_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c35129da-3321-11e6-84e3-a2cceab8d062 2_140733640_GATG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 2 140733640 GAT G 600 PASS - Del - 2 5 CHK2 parent 2_140733640_GATG_CHK2 2 2 2 AT 4 AT Repeat-mediated c35eec6a-328f-11e6-9d24-ade56f39e758 7_76718965_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 76718965 GT G 441 PASS - Del - 1 7 MSH6 child 7_76718965_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c369d16a-3281-11e6-a980-68393dc9300a 18_23662034_CAC . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 18 23662034 CA C 660 PASS SS18 Del intronic 1 9 FANCC child 18_23662034_CAC_FANCC 1 1 1 A 8 A Repeat-mediated c36b5746-3273-11e6-a279-106e671699ea 3_54072447_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 3 54072447 AT A 720 PASS - Del - 1 8 EXO1 parent 3_54072447_ATA_EXO1 1 1 1 T 7 T Repeat-mediated c36b9a22-3277-11e6-9074-69cc19a91649 X_44719633_CCA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA X 44719633 C CA 480 PASS - Ins - 1 8 EXO1 child X_44719633_CCA_EXO1 1 1 - - - - Ins c36e8340-3277-11e6-8c34-46e27872c165 5_169777688_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 169777688 TC T 480 PASS KCNIP1 Del upstream 1 7 MSH6 child 5_169777688_TCT_MSH6 1 1 1 C 6 C Repeat-mediated c36f8758-329b-11e6-8069-175325c9da85 12_112241551_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 112241551 AT A 360 PASS ALDH2 Del intronic 1 9 MSH6 child 12_112241551_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c3721168-3290-11e6-850b-ec0b9c6d3b88 4_126643330_CTTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 126643330 CTT C 420 PASS RP11-399F2.2 Del intronic 2 3 POLB child 4_126643330_CTTC_POLB 2 2 1 T 0 - Microhomology-mediated c374f73c-329c-11e6-ae71-0c5325c9da85 1_167154061_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 167154061 AT A 780 PASS - Del - 1 7 MSH6 child 1_167154061_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c3779f84-328b-11e6-bd84-429305ad5bc4 1_28943252_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 28943252 AT A 600 PASS TAF12 Del intronic 1 1 MSH6 child 1_28943252_ATA_MSH6 1 1 0 - 0 T None c39411fe-326e-11e6-bfba-13bf4a47a305 9_30224693_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 30224693 TA T 660 PASS - Del - 1 7 MSH6 child 9_30224693_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c39a4afe-3324-11e6-b0c6-e1e369062303 5_9616167_GTGCAGGAAGACG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 5 9616167 GTGCAGGAAGAC G 832 PASS - Del - 11 1 EXO1 child 5_9616167_GTGCAGGAAGACG_EXO1 11 >=10 3 TGC 0 - Microhomology-mediated c39a998c-3270-11e6-8418-1c5942c4520d 3_73239920_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 73239920 GT G 300 PASS - Del - 1 9 MSH6 child 3_73239920_GTG_MSH6 1 1 1 T 8 T Repeat-mediated c39ab604-3286-11e6-b093-c9c7b0dab373 2_195190617_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 195190617 GT G 660 PASS - Del - 1 9 MSH6 child 2_195190617_GTG_MSH6 1 1 1 T 8 T Repeat-mediated c3a9a7a0-3271-11e6-991b-161a987b3f23 X_23472774_ATTTTCTCCCATTCTGTAGGTCGCCTGTTCACTCTGACGGTAGTTCTTTTTGCTGGACAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTGGCTTTTATTGCCATTGCTTTTGGTGTA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA X 23472774 ATTTTCTCCCATTCTGTAGGTCGCCTGTTCACTCTGACGGTAGTTCTTTTTGCTGGACAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTGGCTTTTATTGCCATTGCTTTTGGTGT A 533 PASS - Del - 124 1 NEIL1 child X_23472774_ATTTTCTCCCATTCTGTAGGTCGCCTGTTCACTCTGACGGTAGTTCTTTTTGCTGGACAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTGGCTTTTATTGCCATTGCTTTTGGTGTA_NEIL1 124 >=10 3 TTT 0 - Microhomology-mediated c3b24294-3289-11e6-8459-82090e01a414 12_27493522_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 27493522 CT C 360 PASS ARNTL2 Del intronic 1 9 MSH6 child 12_27493522_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c3b702e2-328f-11e6-8bc2-1045046f68b1 7_127623586_AGA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 7 127623586 AG A 780 PASS SND1 Del intronic 1 1 POLE child 7_127623586_AGA_POLE 1 1 0 - 0 G None c3bc5f94-3280-11e6-884f-bffbf121c733 19_24121158_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 19 24121158 CA C 300 PASS ZNF726 Del downstream 1 8 FANCC child 19_24121158_CAC_FANCC 1 1 1 A 7 A Repeat-mediated c3be7f84-328c-11e6-8952-77c36f39e758 10_76170981_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 76170981 GA G 360 PASS ADK Del intronic 1 9 MSH6 child 10_76170981_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c3c1155c-328f-11e6-9432-c0e56f39e758 5_79991162_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 79991162 CT C 300 PASS MSH3 Del intronic 1 9 MSH6 child 5_79991162_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c3c27d26-328e-11e6-8e48-791e0e01a414 8_77405312_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 77405312 TG T 420 PASS LINC01111 Del intronic 1 1 MSH6 child 8_77405312_TGT_MSH6 1 1 0 - 0 G None c3c51fec-3278-11e6-83cd-a472a178171f 4_64644130_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 64644130 G GA 480 PASS - Ins - 1 7 MSH6 child 4_64644130_GGA_MSH6 1 1 - - - - Ins c3d00552-328b-11e6-b8e6-91c36f39e758 11_16039466_GCG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 16039466 GC G 720 PASS SOX6 Del intronic 1 4 MSH6 child 11_16039466_GCG_MSH6 1 1 1 C 3 C Repeat-mediated c3d03336-328d-11e6-ba48-afb3cc638e3d 2_107108013_AAT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 2 107108013 A AT 333 PASS - Ins - 1 7 NUDT1 child 2_107108013_AAT_NUDT1 1 1 - - - - Ins c3d2f1bc-3291-11e6-8d18-13cc0d01a414 20_4676746_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 4676746 CT C 360 PASS PRNP Del intronic 1 9 MSH6 child 20_4676746_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c3d6bfa0-3290-11e6-a081-1bb7a178171f X_123574265_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA X 123574265 TA T 480 PASS TENM1 Del intronic 1 6 POLE child X_123574265_TAT_POLE 1 1 1 A 5 A Repeat-mediated c3dd595e-3278-11e6-9f35-f4a21da8ec0e 7_157741202_CAC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 7 157741202 CA C 360 PASS PTPRN2 Del intronic 1 7 NEIL1 child 7_157741202_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated c3defa48-329b-11e6-b549-1e5325c9da85 10_115190618_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 115190618 CA C 780 PASS - Del - 1 9 MSH6 child 10_115190618_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c3e87258-3296-11e6-8905-04ffd8b4fa2c 7_130997429_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 7 130997429 GA G 300 PASS - Del - 1 7 NUDT1 child 7_130997429_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated c3ebf2c8-3289-11e6-a7cf-80090e01a414 15_41834046_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 41834046 CA C 360 PASS RPAP1 Del intronic 1 9 MSH6 child 15_41834046_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c3eef2e2-329e-11e6-aea7-956725c9da85 3_18097741_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 18097741 GT G 600 PASS - Del - 1 7 MSH6 child 3_18097741_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c3f4948e-3287-11e6-aa79-5da038e8a824 6_170657021_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 6 170657021 TA T 780 PASS FAM120B Del intronic 1 7 POLE parent 6_170657021_TAT_POLE 1 1 1 A 6 A Repeat-mediated c3f8d718-329d-11e6-91d0-016425c9da85 7_18106455_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 18106455 AT A 480 PASS - Del - 1 9 MSH6 child 7_18106455_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c400b658-3271-11e6-abaf-4642cab49462 6_17937073_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 17937073 GA G 480 PASS KIF13A Del intronic 1 9 MSH6 child 6_17937073_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c401befc-3273-11e6-8418-1c5942c4520d 3_160387956_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 160387956 C CT 660 PASS - Ins - 1 1 MSH6 child 3_160387956_CCT_MSH6 1 1 - - - - Ins c40951dc-3276-11e6-83cd-a472a178171f 4_125240090_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 125240090 TA T 600 PASS - Del - 1 6 MSH6 child 4_125240090_TAT_MSH6 1 1 1 A 5 A Repeat-mediated c41f4868-3274-11e6-acf7-070eebb8d062 6_78060101_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 6 78060101 TA T 360 PASS - Del - 1 6 NUDT1 child 6_78060101_TAT_NUDT1 1 1 1 A 5 A Repeat-mediated c4283b24-329e-11e6-94ca-0aaecc638e3d X_66972843_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 66972843 GA G 720 PASS - Del - 1 8 MSH6 child X_66972843_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c42bf560-3272-11e6-a539-0e5542c4520d 7_129727085_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 129727085 G GT 420 PASS KLHDC10 Ins intronic 1 7 MSH6 child 7_129727085_GGT_MSH6 1 1 - - - - Ins c4314fa2-3294-11e6-84ea-9945fa52e078 7_122452299_TAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 7 122452299 TA T 540 PASS CADPS2 Del intronic 1 9 NUDT1 child 7_122452299_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated c439b8c0-3278-11e6-a391-f6d67d6a9fc7 6_87192822_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 87192822 CT C 480 PASS - Del - 1 7 MSH6 child 6_87192822_CTC_MSH6 1 1 1 T 6 T Repeat-mediated c439de78-3272-11e6-b209-994b3cfdbd24 15_78712118_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 15 78712118 TA T 480 PASS - Del - 1 1 MSH6 parent 15_78712118_TAT_MSH6 1 1 0 - 0 A None c43c0a40-3290-11e6-a77d-d5257a852e0e 19_50469688_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 19 50469688 CT C 360 PASS - Del - 1 9 CHK2 child 19_50469688_CTC_CHK2 1 1 1 T 8 T Repeat-mediated c4427e38-3287-11e6-a5b3-3f1ebce6aa09 7_124894844_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 124894844 CA C 600 PASS RP11-3B12.3 Del intronic 1 9 MSH6 child 7_124894844_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c447b27a-3270-11e6-a812-e11198ba1142 9_235005_GTG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 235005 GT G 660 PASS DOCK8 Del intronic 1 7 EXO1 parent 9_235005_GTG_EXO1 1 1 1 T 6 T Repeat-mediated c4484142-3278-11e6-92d2-c259c225ee11 3_180405886_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 180405886 CA C 960 PASS CCDC39 Del intronic 1 8 MSH6 child 3_180405886_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c44a535e-3289-11e6-aff5-85090e01a414 16_25399026_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 25399026 TA T 420 PASS - Del - 1 9 MSH6 child 16_25399026_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c453917e-3272-11e6-94cc-1ec335cec73b 19_11341766_GCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 11341766 GC G 480 PASS DOCK6 Del intronic 1 7 MSH6 child 19_11341766_GCG_MSH6 1 1 1 C 6 C Repeat-mediated c45b9696-328e-11e6-81d1-7ea5e7d0bdd7 3_110142593_CAC . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 3 110142593 CA C 360 PASS - Del - 1 5 POLM child 3_110142593_CAC_POLM 1 1 1 A 4 A Repeat-mediated c473f1ac-3273-11e6-a5d0-4fd14a47a305 2_120344968_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 120344968 AT A 540 PASS PCDP1 Del intronic 1 5 MSH6 child 2_120344968_ATA_MSH6 1 1 1 T 4 T Repeat-mediated c4851c5a-3257-11e6-89d3-d29498816cf3 2_211203742_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 211203742 G GT 300 PASS - Ins - 1 8 MSH6 child 2_211203742_GGT_MSH6 1 1 - - - - Ins c48c9c46-3289-11e6-b093-c9c7b0dab373 2_205953171_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 205953171 C CT 300 PASS PARD3B Ins intronic 1 1 MSH6 child 2_205953171_CCT_MSH6 1 1 - - - - Ins c49c6db8-329f-11e6-a04f-c66a25c9da85 6_31328332_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 31328332 GA G 660 PASS HLA-B Del upstream 1 8 MSH6 child 6_31328332_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c4a0ddf2-32a0-11e6-bc66-17b4cc638e3d 8_131710968_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 131710968 GA G 480 PASS - Del - 1 9 MSH6 child 8_131710968_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c4a85d44-3321-11e6-8b61-fad5c042253c 12_103179717_GAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 12 103179717 GA G 300 PASS - Del - 1 7 CHK2 child 12_103179717_GAG_CHK2 1 1 1 A 6 A Repeat-mediated c4acb2e8-3256-11e6-91d3-a68412ae24cf 7_19024841_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 19024841 AC A 580 PASS HDAC9 Del intronic 1 7 MSH6 child 7_19024841_ACA_MSH6 1 1 1 C 6 C Repeat-mediated c4b5f944-3322-11e6-a5dc-75b8cde16804 1_100567176_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 100567176 GA G 780 PASS SASS6 Del intronic 1 8 EXO1 child 1_100567176_GAG_EXO1 1 1 1 A 7 A Repeat-mediated c4bbf11c-3284-11e6-b093-c9c7b0dab373 2_32971090_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 32971090 CA C 420 PASS TTC27 Del intronic 1 8 MSH6 child 2_32971090_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c4bd5b8a-328c-11e6-b4fe-93c36f39e758 12_73530462_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 73530462 AC A 600 PASS RP11-314D7.1 Del intronic 1 5 MSH6 child 12_73530462_ACA_MSH6 1 1 1 C 4 C Repeat-mediated c4c6dc8c-328c-11e6-8eee-76090e01a414 10_94586927_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 94586927 A AT 300 PASS EXOC6 Ins upstream 1 8 MSH6 child 10_94586927_AAT_MSH6 1 1 - - - - Ins c4c8ff6e-326c-11e6-9793-9a8fb0dab373 13_31375061_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 31375061 CT C 420 PASS LINC00398 Del upstream 1 9 MSH6 child 13_31375061_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c4cbbed8-326d-11e6-b2ac-b6204b47a305 17_70905695_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 70905695 GA G 360 PASS SLC39A11 Del intronic 1 8 MSH6 child 17_70905695_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c4d19dc8-3252-11e6-8831-5505ee3c4f5d 1_88749967_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 1 88749967 CA C 600 PASS - Del - 1 4 POLB child 1_88749967_CAC_POLB 1 1 1 A 3 A Repeat-mediated c4e0cc7a-328f-11e6-9d97-efe56f39e758 4_77161179_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 77161179 GT G 420 PASS FAM47E Del intronic 1 7 MSH6 child 4_77161179_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c4e4af00-328c-11e6-88c1-95c36f39e758 14_92724685_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 92724685 TA T 360 PASS RP11-472N19.3 Del intronic 1 5 MSH6 child 14_92724685_TAT_MSH6 1 1 1 A 4 A Repeat-mediated c4e9cc02-3290-11e6-bc00-90df977b3f23 X_154173447_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA X 154173447 TA T 468 PASS F8 Del intronic 1 9 NEIL1 child X_154173447_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated c4ed5a90-3289-11e6-b805-77090e01a414 2_35915974_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 35915974 AT A 300 PASS - Del - 1 6 MSH6 child 2_35915974_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c4f78a12-3255-11e6-92eb-77832aaffa45 10_121180386_TCCTGT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 10 121180386 TCCTG T 960 PASS GRK5 Del intronic 4 2 POLM child 10_121180386_TCCTGT_POLM 4 4 4 CCTG 1 CCTG Repeat-mediated c4f98c28-3254-11e6-bb62-81f712ae24cf X_40347784_ATTA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA X 40347784 ATT A 540 PASS - Del - 2 9 POLB child X_40347784_ATTA_POLB 2 2 2 TT 7 T Repeat-mediated c4fd4cda-3292-11e6-b4ea-e05798ba1142 18_39067163_AAATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 18 39067163 AAAT A 360 PASS RP11-142I20.1 Del intronic 3 4 POLB child 18_39067163_AAATA_POLB 3 3 3 AAT 3 AAT Repeat-mediated c4fe344a-3325-11e6-9c15-89c8cde16804 6_71062456_CGC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 6 71062456 CG C 600 PASS - Del - 1 1 POLE child 6_71062456_CGC_POLE 1 1 0 - 0 G None c504fc52-3277-11e6-a47c-77abeab8d062 5_109864901_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 109864901 CT C 300 PASS TMEM232 Del intronic 1 8 EXO1 child 5_109864901_CTC_EXO1 1 1 1 T 7 T Repeat-mediated c5052652-3252-11e6-96f0-d07d12ae24cf 15_69643164_GAG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 15 69643164 GA G 780 PASS PAQR5 Del intronic 1 4 POLB child 15_69643164_GAG_POLB 1 1 1 A 3 A Repeat-mediated c5061f08-3289-11e6-9c89-8d090e01a414 1_25672720_ACTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 25672720 ACT A 600 PASS TMEM50A Del intronic 2 4 MSH6 child 1_25672720_ACTA_MSH6 2 2 2 CT 3 CT Repeat-mediated c509b978-3253-11e6-b4d0-327a7872c165 11_17026294_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 17026294 TA T 360 PASS PLEKHA7 Del intronic 1 7 MSH6 child 11_17026294_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c50ada32-329f-11e6-a04f-c66a25c9da85 6_31402896_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 31402896 GA G 960 PASS - Del - 1 9 MSH6 child 6_31402896_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c50c6fc2-3287-11e6-b32c-fd87a2c71c31 5_170300813_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 170300813 CT C 420 PASS RANBP17 Del intronic 1 7 MSH6 child 5_170300813_CTC_MSH6 1 1 1 T 6 T Repeat-mediated c50cd7fe-3274-11e6-8d20-7365cde16804 5_103552222_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 103552222 GA G 660 PASS - Del - 1 8 MSH6 parent 5_103552222_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c51544da-328c-11e6-b8e6-91c36f39e758 11_81170320_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 81170320 AT A 540 PASS - Del - 1 6 MSH6 child 11_81170320_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c51a04a4-3271-11e6-be8c-25f524864c47 12_74347848_GTG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 12 74347848 GT G 360 PASS - Del - 1 5 CHK2 child 12_74347848_GTG_CHK2 1 1 1 T 4 T Repeat-mediated c5206740-3258-11e6-8d59-25a02aaffa45 4_180121464_GAG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 4 180121464 GA G 540 PASS - Del - 1 9 POLM child 4_180121464_GAG_POLM 1 1 1 A 8 A Repeat-mediated c52212cc-3288-11e6-b9eb-c78fa2c71c31 6_89916921_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 89916921 AT A 480 PASS GABRR1 Del intronic 1 9 MSH6 child 6_89916921_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c52347c0-3272-11e6-9e18-3a69671699ea 10_27087237_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 27087237 TG T 540 PASS ABI1 Del intronic 1 8 MSH6 child 10_27087237_TGT_MSH6 1 1 1 G 7 G Repeat-mediated c5280258-328e-11e6-bec1-ca1d0e01a414 X_122849338_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 122849338 GA G 600 PASS THOC2 Del intronic 1 9 MSH6 child X_122849338_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c53573da-3251-11e6-8c4a-b6e612ae24cf 16_10909278_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 16 10909278 CA C 480 PASS TVP23A Del intronic 1 5 POLB child 16_10909278_CAC_POLB 1 1 1 A 4 A Repeat-mediated c5504684-3287-11e6-8404-8e1fbce6aa09 8_53049234_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 53049234 GA G 420 PASS ST18 Del intronic 1 7 MSH6 child 8_53049234_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c553cb68-328e-11e6-ace9-29a5e7d0bdd7 16_82900405_AGA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 16 82900405 AG A 300 PASS CDH13 Del intronic 1 5 FANCC child 16_82900405_AGA_FANCC 1 1 1 G 4 G Repeat-mediated c553f5e0-3345-11e6-aa8a-bd633cfdbd24 15_37171586_ATTACTGGGATAGAAATAGCCCTA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 15 37171586 ATTACTGGGATAGAAATAGCCCT A 360 PASS RP11-122D10.1 Del intronic 22 1 FANCC child 15_37171586_ATTACTGGGATAGAAATAGCCCTA_FANCC 22 >=10 0 - 0 - None c55737d0-32a2-11e6-b970-398625c9da85 20_30352409_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 30352409 AT A 840 PASS TPX2 Del intronic 1 7 MSH6 child 20_30352409_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c55975f2-3326-11e6-a1ba-785d038949d4 6_85908144_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 6 85908144 GA G 420 PASS - Del - 1 9 CHK2 parent 6_85908144_GAG_CHK2 1 1 1 A 8 A Repeat-mediated c560ac74-3276-11e6-9122-d5aacc638e3d 9_110463052_AGA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 9 110463052 AG A 720 PASS - Del - 1 3 NEIL1 child 9_110463052_AGA_NEIL1 1 1 1 G 2 G Repeat-mediated c58a937c-326c-11e6-9f48-94df41c4520d 12_15822935_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 15822935 GT G 300 PASS EPS8 Del intronic 1 8 MSH6 child 12_15822935_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c5901486-3281-11e6-83f7-b4262eaed38e 15_85891596_GTCG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 15 85891596 GTC G 660 PASS - Del - 2 2 POLB child 15_85891596_GTCG_POLB 2 2 2 TC 1 TC Repeat-mediated c5909c48-328c-11e6-8256-94c36f39e758 17_62290527_ACTCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 62290527 ACTC A 360 PASS TEX2 Del inframe 3 3 MSH6 child 17_62290527_ACTCA_MSH6 3 3 3 CTC 2 CTC Repeat-mediated c5916cf6-328a-11e6-a80b-87090e01a414 11_93529282_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 93529282 AT A 360 PASS MED17 Del intronic 1 8 MSH6 child 11_93529282_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c5930444-329e-11e6-9c44-d26625c9da85 21_30280373_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 30280373 TA T 420 PASS - Del - 1 7 MSH6 child 21_30280373_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c5a5bc46-3290-11e6-9d24-ade56f39e758 7_142596065_CCTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 142596065 CCT C 300 PASS - Del - 2 6 MSH6 child 7_142596065_CCTC_MSH6 2 2 2 CT 5 CT Repeat-mediated c5abd23e-3290-11e6-9d24-ade56f39e758 7_142614240_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 142614240 GT G 480 PASS TRPV5 Del intronic 1 9 MSH6 child 7_142614240_GTG_MSH6 1 1 1 T 8 T Repeat-mediated c5ae107c-328f-11e6-bc00-90df977b3f23 X_62036468_ATTGTA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA X 62036468 ATTGT A 840 PASS - Del - 4 2 NEIL1 child X_62036468_ATTGTA_NEIL1 4 4 4 TTGT 1 TTGT Repeat-mediated c5b9b646-329b-11e6-b549-1e5325c9da85 10_115675379_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 115675379 GT G 360 PASS NHLRC2 Del 3prime_UTR_variant 1 9 MSH6 child 10_115675379_GTG_MSH6 1 1 1 T 8 T Repeat-mediated c5bbc2a8-328a-11e6-9c89-8d090e01a414 1_83278708_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 83278708 CA C 420 PASS - Del - 1 9 MSH6 child 1_83278708_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c5c611cc-3276-11e6-8c34-46e27872c165 5_96509054_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 96509054 AG A 300 PASS RIOK2 Del intronic 1 1 MSH6 child 5_96509054_AGA_MSH6 1 1 0 - 0 G None c5c79cf4-3280-11e6-a2c9-149290e2c2e6 3_83666846_TCT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 83666846 TC T 480 PASS - Del - 1 1 NUDT1 child 3_83666846_TCT_NUDT1 1 1 0 - 0 C None c5ce510e-3256-11e6-acc5-308412ae24cf 5_28761291_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 28761291 GA G 443 PASS - Del - 1 7 MSH6 child 5_28761291_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c5cf15ee-3292-11e6-b77d-2eef6f39e758 6_156638665_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 156638665 CA C 360 PASS - Del - 1 5 MSH6 child 6_156638665_CAC_MSH6 1 1 1 A 4 A Repeat-mediated c5d0c7ae-3274-11e6-9b52-2fdc6de4ab00 12_96840751_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 12 96840751 AT A 480 PASS RP11-510I5.4 Del intronic 1 9 EXO1 child 12_96840751_ATA_EXO1 1 1 1 T 8 T Repeat-mediated c5da7dbe-3321-11e6-8301-82209a696edf 18_6395449_AGA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 18 6395449 AG A 540 PASS L3MBTL4 Del intronic 1 7 EXO1 child 18_6395449_AGA_EXO1 1 1 1 G 6 G Repeat-mediated c5dab8ba-326d-11e6-bc62-6d4742c4520d 16_87456989_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 87456989 TA T 600 PASS ZCCHC14 Del intronic 1 7 MSH6 child 16_87456989_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c5dbd378-3289-11e6-821d-8c090e01a414 13_46480031_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 46480031 GT G 660 PASS - Del - 1 8 MSH6 child 13_46480031_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c5edab66-3275-11e6-9fd1-e163e7d0bdd7 8_28349570_CTTC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 8 28349570 CTT C 360 PASS FZD3 Del upstream 2 3 POLB child 8_28349570_CTTC_POLB 2 2 1 T 0 - Microhomology-mediated c5ef2a56-328c-11e6-b6a6-1f1e0e01a414 4_21042472_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 21042472 GT G 300 PASS KCNIP4 Del intronic 1 9 MSH6 child 4_21042472_GTG_MSH6 1 1 1 T 8 T Repeat-mediated c5faa172-3284-11e6-870e-6af1bbe6aa09 19_23676195_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 23676195 AT A 720 PASS - Del - 1 7 MSH6 child 19_23676195_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c5fd1e12-3279-11e6-8a64-801e9a696edf 3_89995642_CTC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 3 89995642 CT C 720 PASS - Del - 1 2 POLM child 3_89995642_CTC_POLM 1 1 1 T 1 T Repeat-mediated c600d4f2-328e-11e6-8e48-791e0e01a414 8_78192783_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 78192783 AT A 540 PASS - Del - 1 9 MSH6 child 8_78192783_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c601e6b0-329f-11e6-b696-dd6225c9da85 5_175925132_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 175925132 CA C 360 PASS FAF2 Del intronic 1 9 MSH6 child 5_175925132_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c6026f10-3257-11e6-8cd9-139b7872c165 3_16515084_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 16515084 AT A 360 PASS RFTN1 Del intronic 1 9 MSH6 child 3_16515084_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c611278c-328c-11e6-8e48-791e0e01a414 8_18589663_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 18589663 TA T 360 PASS PSD3 Del intronic 1 7 MSH6 child 8_18589663_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c6255402-3320-11e6-881c-c18230158702 10_8550154_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 10 8550154 AT A 360 PASS - Del - 1 2 POLE child 10_8550154_ATA_POLE 1 1 1 T 1 T Repeat-mediated c627350c-328e-11e6-b805-77090e01a414 2_106186147_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 106186147 C CA 480 PASS - Ins - 1 1 MSH6 child 2_106186147_CCA_MSH6 1 1 - - - - Ins c62c94ea-325a-11e6-8b28-55ad7872c165 20_9273742_AAGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 9273742 AAG A 480 PASS PLCB4 Del intronic 2 5 MSH6 child 20_9273742_AAGA_MSH6 2 2 2 AG 4 AG Repeat-mediated c62e0dc0-3255-11e6-a304-347a7872c165 1_152752795_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 152752795 GA G 300 PASS LCE1F Del downstream 1 9 MSH6 child 1_152752795_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c634a41c-3284-11e6-99f7-076ea2c71c31 12_31959180_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 31959180 TG T 820 PASS RNU6-1069P Del upstream 1 7 MSH6 child 12_31959180_TGT_MSH6 1 1 1 G 6 G Repeat-mediated c63ffbfa-3270-11e6-b5b8-e0c24a47a305 X_86086500_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 86086500 AT A 300 PASS DACH2 Del intronic 1 9 MSH6 child X_86086500_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c6485110-3270-11e6-9309-bdc34a47a305 8_63049911_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 63049911 CT C 600 PASS - Del - 1 8 MSH6 child 8_63049911_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c64a23b8-328a-11e6-9c89-8d090e01a414 1_83432129_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 83432129 CT C 540 PASS RP4-601K24.1 Del intronic 1 9 MSH6 child 1_83432129_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c64af32c-326e-11e6-93c5-fd61ecf1e924 11_10907151_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 11 10907151 AT A 540 PASS CTD-2003C8.2 Del intronic 1 9 NEIL1 child 11_10907151_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated c64d60c8-3285-11e6-a0a8-096ea2c71c31 11_130282119_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 130282119 CT C 720 PASS ADAMTS8 Del intronic 1 9 MSH6 child 11_130282119_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c6516906-3290-11e6-bd11-15ea6f39e758 21_42470658_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 21 42470658 A AT 420 PASS - Ins - 1 7 MSH6 child 21_42470658_AAT_MSH6 1 1 - - - - Ins c6518d72-3287-11e6-a0f6-76a56f39e758 7_119790976_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 7 119790976 AT A 540 PASS - Del - 1 8 EXO1 child 7_119790976_ATA_EXO1 1 1 1 T 7 T Repeat-mediated c65acbc8-3276-11e6-9e0f-7959cab49462 7_87322819_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 87322819 AT A 660 PASS ABCB1 Del intronic 1 8 MSH6 child 7_87322819_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c65febfc-328b-11e6-b805-77090e01a414 2_170044295_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 170044295 CA C 420 PASS LRP2 Del intronic 1 7 MSH6 child 2_170044295_CAC_MSH6 1 1 1 A 6 A Repeat-mediated c65ff412-328b-11e6-aac2-75bb5d753391 4_106338650_CAAAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 4 106338650 CAAA C 300 PASS PPA2 Del intronic 3 5 POLE child 4_106338650_CAAAC_POLE 3 3 2 AA 0 - Microhomology-mediated c666a9f4-328d-11e6-b6a6-1f1e0e01a414 4_80593729_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 80593729 CA C 480 PASS RP11-452C8.1 Del intronic 1 8 MSH6 child 4_80593729_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c66771e4-328e-11e6-bec1-ca1d0e01a414 X_122966899_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 122966899 TA T 540 PASS - Del - 1 9 MSH6 child X_122966899_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c66cd656-3320-11e6-aebd-38d38877c0b2 17_66306520_CACTTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 17 66306520 CACTT C 1196 PASS ARSG Del intronic 4 1 CHK2 parent 17_66306520_CACTTC_CHK2 4 4 1 A 0 - Microhomology-mediated c6790f06-329a-11e6-ae71-0c5325c9da85 1_43163345_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 43163345 CT C 900 PASS YBX1 Del intronic 1 8 MSH6 child 1_43163345_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c686a988-328e-11e6-bec1-ca1d0e01a414 X_122976626_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 122976626 CA C 392 PASS - Del - 1 7 MSH6 child X_122976626_CAC_MSH6 1 1 1 A 6 A Repeat-mediated c68b9d7e-3254-11e6-a4a7-35f212ae24cf 14_97991682_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 97991682 AT A 660 PASS CTD-2506J14.1 Del intronic 1 9 MSH6 child 14_97991682_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c690c928-3274-11e6-975f-8246cab49462 16_52494246_TTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 52494246 T TG 720 PASS TOX3 Ins intronic 1 5 MSH6 child 16_52494246_TTG_MSH6 1 1 - - - - Ins c694b570-327d-11e6-b73f-448daea0a4d2 2_134203200_CTC . HAP1_POLB_35 HAP1_parental_75_WT_DNA 2 134203200 CT C 540 PASS NCKAP5 Del intronic 1 4 POLB parent 2_134203200_CTC_POLB 1 1 1 T 3 T Repeat-mediated c699d5c0-328f-11e6-9d97-efe56f39e758 4_77625903_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 77625903 AT A 300 PASS SHROOM3 Del intronic 1 6 MSH6 child 4_77625903_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c6a290b2-3324-11e6-95a6-476ac042253c 3_3213243_GCAG . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 3213243 GCA G 480 PASS CRBN Del intronic 2 2 CHK2 child 3_3213243_GCAG_CHK2 2 2 2 CA 1 CA Repeat-mediated c6c49254-3296-11e6-bfe3-c11ec7271a47 2_39159272_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 39159272 AT A 420 PASS ARHGEF33 Del intronic 1 9 CHK2 child 2_39159272_ATA_CHK2 1 1 1 T 8 T Repeat-mediated c6c604fc-3289-11e6-821d-8c090e01a414 13_46921561_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 46921561 CA C 300 PASS KIAA0226L Del intronic 1 8 MSH6 child 13_46921561_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c6c9613c-3280-11e6-9f9b-29bd9b6d3b88 11_18274347_CATC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 18274347 CAT C 780 PASS SAA2 Del upstream 2 6 EXO1 child 11_18274347_CATC_EXO1 2 2 2 AT 5 AT Repeat-mediated c6d541c0-328d-11e6-9721-bd9fb868caf4 18_50664193_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 18 50664193 AT A 300 PASS DCC Del intronic 1 9 POLB child 18_50664193_ATA_POLB 1 1 1 T 8 T Repeat-mediated c6d5a6f4-3276-11e6-83cd-a472a178171f 4_125927590_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 125927590 AT A 300 PASS - Del - 1 8 MSH6 child 4_125927590_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c6e5b08a-328f-11e6-bb1e-70e16f39e758 X_115026748_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 115026748 CT C 360 PASS - Del - 1 8 MSH6 child X_115026748_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c6edb3ee-329d-11e6-ae71-0c5325c9da85 1_227546237_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 227546237 CA C 660 PASS - Del - 1 9 MSH6 child 1_227546237_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c6eea92a-3284-11e6-a1ac-fd6da2c71c31 13_52239611_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 52239611 TA T 720 PASS WDFY2 Del intronic 1 5 MSH6 child 13_52239611_TAT_MSH6 1 1 1 A 4 A Repeat-mediated c6f17c08-3325-11e6-ba48-d8ad2aaffa45 8_113273751_ATGA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 8 113273751 ATG A 360 PASS CSMD3 Del intronic 2 8 POLE child 8_113273751_ATGA_POLE 2 2 2 TG 7 TG Repeat-mediated c6f35494-328d-11e6-b8e0-dcb35d753391 7_141670076_CCA . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 7 141670076 C CA 540 PASS TAS2R38 Ins downstream 1 7 POLE child 7_141670076_CCA_POLE 1 1 - - - - Ins c6fb2e08-3256-11e6-91d3-a68412ae24cf 7_19811747_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 19811747 CA C 300 PASS TMEM196 Del intronic 1 7 MSH6 child 7_19811747_CAC_MSH6 1 1 1 A 6 A Repeat-mediated c6fecc82-3271-11e6-b630-aeceb41afd22 17_52825403_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 17 52825403 AT A 540 PASS - Del - 1 7 FANCC child 17_52825403_ATA_FANCC 1 1 1 T 6 T Repeat-mediated c708d5ce-3320-11e6-8b1d-08e579852e0e 10_62718927_TAT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 10 62718927 TA T 660 PASS RHOBTB1 Del intronic 1 7 POLE child 10_62718927_TAT_POLE 1 1 1 A 6 A Repeat-mediated c70f1492-329f-11e6-bc2c-2a5e25c9da85 4_182009161_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 182009161 TA T 300 PASS LINC00290 Del intronic 1 9 MSH6 child 4_182009161_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c7117774-3280-11e6-a2e8-f2338e4678dd 15_33105621_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 15 33105621 CT C 360 PASS FMN1 Del intronic 1 9 EXO1 child 15_33105621_CTC_EXO1 1 1 1 T 8 T Repeat-mediated c7198892-3271-11e6-b209-994b3cfdbd24 15_58356928_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 15 58356928 AT A 300 PASS ALDH1A2 Del intronic 1 8 MSH6 parent 15_58356928_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c722c604-329a-11e6-ae71-0c5325c9da85 1_43371734_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 43371734 TA T 660 PASS - Del - 1 8 MSH6 child 1_43371734_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c723c2f6-328c-11e6-aaf7-8f5c694da5d2 19_14901852_TAT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 19 14901852 TA T 480 PASS - Del - 1 6 POLM child 19_14901852_TAT_POLM 1 1 1 A 5 A Repeat-mediated c729050e-329b-11e6-8069-175325c9da85 12_113057515_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 113057515 CT C 660 PASS RPH3A Del intronic 1 9 MSH6 child 12_113057515_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c72a8344-3286-11e6-a5b3-3f1ebce6aa09 7_30771633_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 30771633 TA T 540 PASS - Del - 1 8 MSH6 child 7_30771633_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c72c3828-328c-11e6-bd1b-5fcc977b3f23 11_91601945_GAG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 11 91601945 GA G 360 PASS - Del - 1 9 NEIL1 child 11_91601945_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated c735123a-329c-11e6-b129-195325c9da85 16_56231958_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 56231958 G GA 720 PASS GNAO1 Ins intronic 1 6 MSH6 child 16_56231958_GGA_MSH6 1 1 - - - - Ins c736e828-3281-11e6-9ece-78393dc9300a 11_15375576_ATA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 11 15375576 AT A 480 PASS - Del - 1 8 NEIL1 parent 11_15375576_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated c73a8990-3292-11e6-b77d-2eef6f39e758 6_157048103_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 157048103 GT G 1020 PASS - Del - 1 9 MSH6 child 6_157048103_GTG_MSH6 1 1 1 T 8 T Repeat-mediated c73b94ae-3286-11e6-a5b3-3f1ebce6aa09 7_30798569_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 30798569 AT A 480 PASS INMT Del downstream 1 8 MSH6 child 7_30798569_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c744d2fa-3257-11e6-a7ac-209a7872c165 22_38930852_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 38930852 CA C 360 PASS DMC1 Del intronic 1 8 MSH6 child 22_38930852_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c74a591c-3290-11e6-b6a6-1f1e0e01a414 4_69123451_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 69123451 A AT 660 PASS - Ins - 1 4 MSH6 child 4_69123451_AAT_MSH6 1 1 - - - - Ins c74b9194-3275-11e6-972b-b65bfc77b11e 1_192080856_TAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 1 192080856 TA T 480 PASS - Del - 1 9 CHK2 child 1_192080856_TAT_CHK2 1 1 1 A 8 A Repeat-mediated c751d0e6-328d-11e6-8dad-8fe0191589db 21_46699309_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 21 46699309 CA C 480 PASS POFUT2 Del intronic 1 8 FANCC child 21_46699309_CAC_FANCC 1 1 1 A 7 A Repeat-mediated c75a7480-327e-11e6-9c0f-26bd1da8ec0e 8_129513390_TCTGTTGATTCTCTCCATCTTTCAATGAAGT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 8 129513390 TCTGTTGATTCTCTCCATCTTTCAATGAAG T 660 PASS RP11-89M16.1 Del intronic 29 1 FANCC parent 8_129513390_TCTGTTGATTCTCTCCATCTTTCAATGAAGT_FANCC 29 >=10 3 CTG 0 - Microhomology-mediated c75cb086-3320-11e6-91bf-3d785e975b79 11_7175104_GTG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 11 7175104 GT G 720 PASS - Del - 1 9 POLE child 11_7175104_GTG_POLE 1 1 1 T 8 T Repeat-mediated c75d454c-329d-11e6-bc66-17b4cc638e3d 8_19161592_AAGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 19161592 AAG A 600 PASS - Del - 2 6 MSH6 child 8_19161592_AAGA_MSH6 2 2 2 AG 5 AG Repeat-mediated c75dcb86-329b-11e6-b549-1e5325c9da85 10_116186265_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 116186265 GA G 660 PASS ABLIM1 Del downstream 1 6 MSH6 child 10_116186265_GAG_MSH6 1 1 1 A 5 A Repeat-mediated c76d5b8c-326e-11e6-b306-b5204b47a305 2_192887732_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 192887732 CT C 540 PASS TMEFF2 Del intronic 1 9 MSH6 child 2_192887732_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c76e8d6a-3276-11e6-9732-2a7ea2c71c31 22_33542706_GAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 22 33542706 GA G 360 PASS - Del - 1 8 NEIL1 child 22_33542706_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated c77b09e6-3258-11e6-885f-d1947872c165 4_183422937_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 183422937 CT C 540 PASS TENM3 Del intronic 1 7 MSH6 child 4_183422937_CTC_MSH6 1 1 1 T 6 T Repeat-mediated c78302de-328c-11e6-b68c-9fa420e7b7a8 8_87219300_CATAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 8 87219300 CATA C 420 PASS - Del - 3 2 POLE child 8_87219300_CATAC_POLE 3 3 3 ATA 1 ATA Repeat-mediated c7845732-3256-11e6-acc5-308412ae24cf 5_29390942_GTCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 29390942 GTC G 540 PASS CTD-2010I22.2 Del intronic 2 2 MSH6 child 5_29390942_GTCG_MSH6 2 2 2 TC 1 TC Repeat-mediated c78b59d8-326f-11e6-8a6f-43b190e2c2e6 11_57314607_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 11 57314607 TA T 420 PASS UBE2L6 Del downstream 1 9 POLB child 11_57314607_TAT_POLB 1 1 1 A 8 A Repeat-mediated c7972d14-3295-11e6-a9b2-67393dc9300a 7_92479722_GTG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 7 92479722 GT G 840 PASS - Del - 1 4 POLB child 7_92479722_GTG_POLB 1 1 1 T 3 T Repeat-mediated c7975358-3299-11e6-8de1-2d9afaf1a024 7_119705282_TCAAAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 119705282 TCAAA T 420 PASS - Del - 4 1 CHK2 child 7_119705282_TCAAAT_CHK2 4 4 2 CA 0 - Microhomology-mediated c79c8048-3272-11e6-8f10-bfc27872c165 4_114391445_ACA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 114391445 AC A 300 PASS CAMK2D Del intronic 1 8 EXO1 parent 4_114391445_ACA_EXO1 1 1 1 C 7 C Repeat-mediated c7b1192a-32a1-11e6-a04f-c66a25c9da85 6_160089044_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 160089044 TA T 420 PASS SOD2 Del downstream 1 5 MSH6 child 6_160089044_TAT_MSH6 1 1 1 A 4 A Repeat-mediated c7c40464-3287-11e6-a284-4b89a2c71c31 4_114629315_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 114629315 CT C 480 PASS CAMK2D Del intronic 1 8 MSH6 child 4_114629315_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c7c8cecc-3322-11e6-a5ff-2d2ef7d33ce3 10_100797175_GGTACT . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 10 100797175 G GTACT 480 PASS HPSE2 Ins intronic 4 0 CHK2 child 10_100797175_GGTACT_CHK2 4 4 - - - - Ins c7c9bb90-326c-11e6-9f48-94df41c4520d 12_16555112_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 16555112 CT C 360 PASS - Del - 1 9 MSH6 child 12_16555112_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c7cccb78-3253-11e6-8ebc-3ef212ae24cf 15_28965295_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 28965295 GA G 477 PASS RP11-578F21.6 Del intronic 1 9 MSH6 child 15_28965295_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c7ce5546-3272-11e6-b332-88ba7d6a9fc7 15_37363071_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 37363071 AT A 720 PASS MEIS2 Del intronic 1 8 MSH6 child 15_37363071_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c7d3c33c-329f-11e6-aea7-956725c9da85 3_81400201_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 81400201 TA T 300 PASS - Del - 1 9 MSH6 child 3_81400201_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c7d7e6d2-3273-11e6-94cc-1ec335cec73b 19_49287074_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 49287074 AT A 480 PASS - Del - 1 6 MSH6 child 19_49287074_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c7de01ee-3290-11e6-b81f-4ee66f39e758 8_71117841_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 71117841 GA G 600 PASS NCOA2 Del intronic 1 9 MSH6 child 8_71117841_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c7de849e-3348-11e6-b3a1-d0f2137bb207 5_42869227_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 5 42869227 AT A 300 PASS SEPP1 Del intronic 1 6 FANCC child 5_42869227_ATA_FANCC 1 1 1 T 5 T Repeat-mediated c7edf78c-328d-11e6-a450-805c694da5d2 16_83608699_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 16 83608699 AT A 480 PASS CDH13 Del intronic 1 5 POLM child 16_83608699_ATA_POLM 1 1 1 T 4 T Repeat-mediated c7f4a6fe-3274-11e6-8bd4-92b28a20d9eb 9_140492120_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 9 140492120 AT A 420 PASS - Del - 1 5 NEIL1 child 9_140492120_ATA_NEIL1 1 1 1 T 4 T Repeat-mediated c7f8bdb6-3279-11e6-92d2-c259c225ee11 3_46565375_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 46565375 A AT 600 PASS LRRC2 Ins intronic 1 7 MSH6 child 3_46565375_AAT_MSH6 1 1 - - - - Ins c7fe3eba-3285-11e6-be43-0a6ea2c71c31 10_118890665_AAGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 118890665 AAG A 360 PASS VAX1 Del 3prime_UTR_variant 2 6 MSH6 child 10_118890665_AAGA_MSH6 2 2 2 AG 5 AG Repeat-mediated c800ad40-3284-11e6-8b67-086ea2c71c31 1_29315395_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 29315395 GA G 780 PASS EPB41 Del intronic 1 9 MSH6 child 1_29315395_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c80178d6-329a-11e6-a5cf-205325c9da85 11_60842942_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 60842942 CA C 300 PASS - Del - 1 9 MSH6 child 11_60842942_CAC_MSH6 1 1 1 A 8 A Repeat-mediated c80ee480-328b-11e6-bd84-429305ad5bc4 1_31282181_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 31282181 CT C 720 PASS RP5-1125N11.1 Del downstream 1 8 MSH6 child 1_31282181_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c8109a46-3290-11e6-9230-fb250e01a414 3_187229110_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 187229110 AT A 300 PASS - Del - 1 9 MSH6 child 3_187229110_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c813bc7c-328a-11e6-940d-53a538e8a824 2_28836329_TTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 28836329 T TG 300 PASS PLB1 Ins intronic 1 5 NUDT1 parent 2_28836329_TTG_NUDT1 1 1 - - - - Ins c813c022-3286-11e6-bb1d-5179a178171f 13_94956815_AATCA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 13 94956815 AATC A 360 PASS GPC6 Del intronic 3 2 FANCC child 13_94956815_AATCA_FANCC 3 3 3 ATC 1 ATC Repeat-mediated c820bdc6-3273-11e6-975f-8246cab49462 16_81570653_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 81570653 AT A 600 PASS CMIP Del intronic 1 5 MSH6 child 16_81570653_ATA_MSH6 1 1 1 T 4 T Repeat-mediated c8238f9e-3285-11e6-be43-0a6ea2c71c31 10_118920804_AGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 118920804 AG A 600 PASS RP11-501J20.2 Del intronic 1 7 MSH6 child 10_118920804_AGA_MSH6 1 1 1 G 6 G Repeat-mediated c825ff68-3271-11e6-af89-7600ebb8d062 5_14708896_ATATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 5 14708896 ATAT A 540 PASS ANKH Del 3prime_UTR_variant 3 2 NUDT1 child 5_14708896_ATATA_NUDT1 3 3 3 TAT 1 TAT Repeat-mediated c82d914e-329c-11e6-8069-175325c9da85 12_26860923_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 26860923 T TA 660 PASS ITPR2 Ins intronic 1 6 MSH6 child 12_26860923_TTA_MSH6 1 1 - - - - Ins c84357be-328c-11e6-b9c4-751d0e01a414 5_34797497_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 34797497 TA T 300 PASS RAI14 Del intronic 1 8 MSH6 child 5_34797497_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c847eaaa-3272-11e6-83ef-69fb06e9a829 18_27658304_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 27658304 AT A 300 PASS - Del - 1 9 MSH6 child 18_27658304_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c8601854-329b-11e6-ae71-0c5325c9da85 1_104795171_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 104795171 GT G 720 PASS - Del - 1 8 MSH6 child 1_104795171_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c861a9c8-3285-11e6-a8af-066ea2c71c31 15_80902938_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 80902938 CA C 840 PASS - Del - 1 7 MSH6 child 15_80902938_CAC_MSH6 1 1 1 A 6 A Repeat-mediated c867556c-3280-11e6-a62e-ba6f2aaffa45 10_11884434_GTG . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 10 11884434 GT G 360 PASS PROSER2 Del intronic 1 9 POLE child 10_11884434_GTG_POLE 1 1 1 T 8 T Repeat-mediated c869d9ee-3290-11e6-b81f-4ee66f39e758 8_71312622_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 71312622 GT G 600 PASS NCOA2 Del intronic 1 7 MSH6 child 8_71312622_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c87134a0-3272-11e6-a5d0-4fd14a47a305 2_34060760_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 34060760 TA T 600 PASS AC009499.1 Del intronic 1 5 MSH6 child 2_34060760_TAT_MSH6 1 1 1 A 4 A Repeat-mediated c873df88-334a-11e6-a997-309d38e8a824 4_177377694_GAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 177377694 GA G 420 PASS - Del - 1 9 FANCC child 4_177377694_GAG_FANCC 1 1 1 A 8 A Repeat-mediated c8766966-3277-11e6-ae4b-5451694da5d2 X_56749010_CAC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA X 56749010 CA C 660 PASS - Del - 1 9 POLM child X_56749010_CAC_POLM 1 1 1 A 8 A Repeat-mediated c877c8aa-328c-11e6-8106-81c36f39e758 19_56909999_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 56909999 GT G 480 PASS ZNF582-AS1 Del nc_variant 1 6 MSH6 child 19_56909999_GTG_MSH6 1 1 1 T 5 T Repeat-mediated c89362dc-329a-11e6-ae71-0c5325c9da85 1_43610784_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 43610784 CT C 480 PASS FAM183A Del upstream 1 8 MSH6 child 1_43610784_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c8970722-329d-11e6-b696-dd6225c9da85 5_45563569_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 45563569 TA T 360 PASS HCN1 Del intronic 1 4 MSH6 child 5_45563569_TAT_MSH6 1 1 1 A 3 A Repeat-mediated c89d384c-328c-11e6-8e48-791e0e01a414 8_19118876_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 19118876 CA C 360 PASS RP11-1080G15.1 Del upstream 1 6 MSH6 child 8_19118876_CAC_MSH6 1 1 1 A 5 A Repeat-mediated c89faf24-3272-11e6-826a-adb6fa52e078 17_22243509_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 22243509 CT C 263 PASS - Del - 1 8 MSH6 child 17_22243509_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c8a3584c-3257-11e6-acc5-308412ae24cf 5_100310675_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 100310675 GA G 600 PASS - Del - 1 8 MSH6 child 5_100310675_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c8acb346-326c-11e6-9f48-94df41c4520d 12_16994402_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 16994402 CA C 540 PASS - Del - 1 8 MSH6 child 12_16994402_CAC_MSH6 1 1 1 A 7 A Repeat-mediated c8b0162a-3277-11e6-bb6d-38aec042253c 3_48010516_AAACTA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 3 48010516 AAACT A 660 PASS MAP4 Del intronic 4 2 CHK2 child 3_48010516_AAACTA_CHK2 4 4 4 AACT 1 AACT Repeat-mediated c8b2398a-328d-11e6-9dfc-339fe7d0bdd7 5_110144508_GTAG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 5 110144508 GTA G 420 PASS - Del - 2 7 POLM child 5_110144508_GTAG_POLM 2 2 2 TA 6 TA Repeat-mediated c8b396bc-3289-11e6-a100-84090e01a414 18_36886188_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 36886188 TA T 360 PASS LINC00669 Del intronic 1 7 MSH6 child 18_36886188_TAT_MSH6 1 1 1 A 6 A Repeat-mediated c8b3e84e-3273-11e6-8f33-a6d9cde16804 11_124965584_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 124965584 CA C 600 PASS TMEM218 Del downstream 1 7 MSH6 child 11_124965584_CAC_MSH6 1 1 1 A 6 A Repeat-mediated c8bb6d16-326f-11e6-b923-6726694da5d2 5_22193135_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 22193135 GA G 330 PASS CDH12 Del intronic 1 9 MSH6 child 5_22193135_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c8bcab02-328f-11e6-bc00-90df977b3f23 X_64115856_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA X 64115856 TA T 360 PASS - Del - 1 9 NEIL1 child X_64115856_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated c8c30fb4-3272-11e6-a775-7b5b25c9da85 22_18158021_ATGTA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 22 18158021 ATGT A 480 PASS BCL2L13 Del intronic 3 2 POLM child 22_18158021_ATGTA_POLM 3 3 3 TGT 1 TGT Repeat-mediated c8c55b2a-3272-11e6-83ef-69fb06e9a829 18_27730093_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 27730093 TA T 600 PASS - Del - 1 8 MSH6 child 18_27730093_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c8c890e2-3272-11e6-8f33-a6d9cde16804 11_36705327_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 36705327 CT C 420 PASS - Del - 1 8 MSH6 child 11_36705327_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c8c8b460-328f-11e6-9230-fb250e01a414 3_124238312_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 124238312 CT C 600 PASS KALRN Del 3prime_UTR_variant 1 7 MSH6 child 3_124238312_CTC_MSH6 1 1 1 T 6 T Repeat-mediated c8ca278a-3296-11e6-a8ac-ea4f3dc9300a 6_45733453_TTCT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 6 45733453 TTC T 360 PASS - Del - 2 7 POLB child 6_45733453_TTCT_POLB 2 2 2 TC 6 TC Repeat-mediated c8ce4df4-3284-11e6-90da-f3a469062303 6_30430766_AGAGATGGACAGATGGGCCCATGCTGAAGGCAGTCAGTCACCTGTGCCTGCAGATGAGAAACCGCCGCCTAACCTTTCTGAACCTCATGCGGAAAAAATGTTTGCACCACTAGCCTCCAGCACAGAGATTCCATCCCAGCTCAGTATTTAGTATTTAGAGATTTAGTATTTAGTATTTAGAGATTCCTAAATACCGAGGACTCTGCCCAGTCTGGTTTGACCATGCTCCTCCTTCCTCACACTGTGGGGCCCCAGCTTTCCCTCCCAATTCCACACCCCCAGATGCTGGTACCATGCTCAGGTTCATCGTGGACACCACTCCATCCGACATGGCAACACTTTTGATCCAGCCGCTTTGACAACCTCGTTCAGTCTCCTCTGGAGACAGCCACCCAGACCTTTGCTGATGAGCTGGGACTGAGGGGAAAAGGCCTGCGATCTCTGATGGGGTTGGCAATGGACACCAAAGTCGTCTTCTAAAGACCAAGTACGCTCTAACCACGGAAATCGTCTCTAACCACTGACTCCTCCAGAAAAGGAAGAAAGAAGCCTCTCTACACTAAGCTGAAACACTAAATACACTAAGTGTTGATTAAGTAGACTAGGTACACTAAGTGGTAAACTTGGTAAACTTAGAGCACTAAGTACACTAAGTACAATAAATGGTAAACTTGGTAAACTTAGAGCACTAAGTGCACTAAGTTCACTAAGTAATAATATTAGTACTAAGTGGTACACTAAGCTGAAACCGCAAACCGCAGCCATGGCAGAGGAACCTCAGCTTAAATAGTGTGGAGCGGCCACTGGTTTCCGCGGCTCGTAGTCGCGCCCGCGAGGAAACGCCAGGGAGGCTTCCTGCCCCGCCCAGCGGTGGCCCAGGGCACAGGGAACCACGGCTGCTTCTCTCCGAGGTTTGTGGCCTGAGAAACTCTCCA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 30430766 AGAGATGGACAGATGGGCCCATGCTGAAGGCAGTCAGTCACCTGTGCCTGCAGATGAGAAACCGCCGCCTAACCTTTCTGAACCTCATGCGGAAAAAATGTTTGCACCACTAGCCTCCAGCACAGAGATTCCATCCCAGCTCAGTATTTAGTATTTAGAGATTTAGTATTTAGTATTTAGAGATTCCTAAATACCGAGGACTCTGCCCAGTCTGGTTTGACCATGCTCCTCCTTCCTCACACTGTGGGGCCCCAGCTTTCCCTCCCAATTCCACACCCCCAGATGCTGGTACCATGCTCAGGTTCATCGTGGACACCACTCCATCCGACATGGCAACACTTTTGATCCAGCCGCTTTGACAACCTCGTTCAGTCTCCTCTGGAGACAGCCACCCAGACCTTTGCTGATGAGCTGGGACTGAGGGGAAAAGGCCTGCGATCTCTGATGGGGTTGGCAATGGACACCAAAGTCGTCTTCTAAAGACCAAGTACGCTCTAACCACGGAAATCGTCTCTAACCACTGACTCCTCCAGAAAAGGAAGAAAGAAGCCTCTCTACACTAAGCTGAAACACTAAATACACTAAGTGTTGATTAAGTAGACTAGGTACACTAAGTGGTAAACTTGGTAAACTTAGAGCACTAAGTACACTAAGTACAATAAATGGTAAACTTGGTAAACTTAGAGCACTAAGTGCACTAAGTTCACTAAGTAATAATATTAGTACTAAGTGGTACACTAAGCTGAAACCGCAAACCGCAGCCATGGCAGAGGAACCTCAGCTTAAATAGTGTGGAGCGGCCACTGGTTTCCGCGGCTCGTAGTCGCGCCCGCGAGGAAACGCCAGGGAGGCTTCCTGCCCCGCCCAGCGGTGGCCCAGGGCACAGGGAACCACGGCTGCTTCTCTCCGAGGTTTGTGGCCTGAGAAACTCTCC A 540 PASS - Del - 933 1 FANCC child 6_30430766_AGAGATGGACAGATGGGCCCATGCTGAAGGCAGTCAGTCACCTGTGCCTGCAGATGAGAAACCGCCGCCTAACCTTTCTGAACCTCATGCGGAAAAAATGTTTGCACCACTAGCCTCCAGCACAGAGATTCCATCCCAGCTCAGTATTTAGTATTTAGAGATTTAGTATTTAGTATTTAGAGATTCCTAAATACCGAGGACTCTGCCCAGTCTGGTTTGACCATGCTCCTCCTTCCTCACACTGTGGGGCCCCAGCTTTCCCTCCCAATTCCACACCCCCAGATGCTGGTACCATGCTCAGGTTCATCGTGGACACCACTCCATCCGACATGGCAACACTTTTGATCCAGCCGCTTTGACAACCTCGTTCAGTCTCCTCTGGAGACAGCCACCCAGACCTTTGCTGATGAGCTGGGACTGAGGGGAAAAGGCCTGCGATCTCTGATGGGGTTGGCAATGGACACCAAAGTCGTCTTCTAAAGACCAAGTACGCTCTAACCACGGAAATCGTCTCTAACCACTGACTCCTCCAGAAAAGGAAGAAAGAAGCCTCTCTACACTAAGCTGAAACACTAAATACACTAAGTGTTGATTAAGTAGACTAGGTACACTAAGTGGTAAACTTGGTAAACTTAGAGCACTAAGTACACTAAGTACAATAAATGGTAAACTTGGTAAACTTAGAGCACTAAGTGCACTAAGTTCACTAAGTAATAATATTAGTACTAAGTGGTACACTAAGCTGAAACCGCAAACCGCAGCCATGGCAGAGGAACCTCAGCTTAAATAGTGTGGAGCGGCCACTGGTTTCCGCGGCTCGTAGTCGCGCCCGCGAGGAAACGCCAGGGAGGCTTCCTGCCCCGCCCAGCGGTGGCCCAGGGCACAGGGAACCACGGCTGCTTCTCTCCGAGGTTTGTGGCCTGAGAAACTCTCCA_FANCC 933 >=10 1 G 0 - Microhomology-mediated c8d6310e-3275-11e6-bd08-5b1c630e6611 9_20867414_CTC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 9 20867414 CT C 660 PASS FOCAD Del intronic 1 8 CHK2 child 9_20867414_CTC_CHK2 1 1 1 T 7 T Repeat-mediated c8d96726-3297-11e6-9c5d-eaf997ba1142 12_116546890_TTTGT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 12 116546890 TTTG T 300 PASS MED13L Del intronic 3 1 CHK2 child 12_116546890_TTTGT_CHK2 3 3 0 - 0 - None c8e31cea-3287-11e6-8bbd-f88da2c71c31 21_26917593_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 26917593 GT G 540 PASS - Del - 1 5 MSH6 child 21_26917593_GTG_MSH6 1 1 1 T 4 T Repeat-mediated c8e35e42-3270-11e6-9dd9-e411987b3f23 2_169549274_TGT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 2 169549274 TG T 360 PASS CERS6 Del intronic 1 7 NEIL1 child 2_169549274_TGT_NEIL1 1 1 1 G 6 G Repeat-mediated c8e6afba-328a-11e6-a80b-87090e01a414 11_94344142_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 94344142 GT G 420 PASS PIWIL4 Del intronic 1 7 MSH6 child 11_94344142_GTG_MSH6 1 1 1 T 6 T Repeat-mediated c8e8d1ee-328c-11e6-ae53-96c36f39e758 15_69569462_GCAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 69569462 GCA G 300 PASS GLCE Del downstream 2 8 MSH6 child 15_69569462_GCAG_MSH6 2 2 2 CA 7 CA Repeat-mediated c8ea9326-328c-11e6-bd84-429305ad5bc4 1_169981901_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 169981901 GA G 480 PASS KIFAP3 Del intronic 1 7 MSH6 child 1_169981901_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c8f48548-329b-11e6-b549-1e5325c9da85 10_116640283_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 116640283 CA C 780 PASS FAM160B1 Del intronic 1 7 MSH6 child 10_116640283_CAC_MSH6 1 1 1 A 6 A Repeat-mediated c8fab33c-3273-11e6-90ac-b4c37872c165 8_61826865_CTC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 61826865 CT C 300 PASS AC022182.1 Del upstream 1 8 NEIL1 child 8_61826865_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated c8fcbce6-326d-11e6-9f48-94df41c4520d 12_94182849_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 94182849 CT C 420 PASS CRADD Del intronic 1 8 MSH6 child 12_94182849_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c9024966-3283-11e6-9e76-639d69062303 8_35875197_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 35875197 GA G 960 PASS RP11-89M20.2 Del intronic 1 5 FANCC child 8_35875197_GAG_FANCC 1 1 1 A 4 A Repeat-mediated c909ba94-328c-11e6-bec1-ca1d0e01a414 X_33297470_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 33297470 AT A 360 PASS - Del - 1 8 MSH6 child X_33297470_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c9117c38-3292-11e6-9432-c0e56f39e758 5_127936355_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 127936355 G GT 540 PASS FBN2 Ins intronic 1 7 MSH6 child 5_127936355_GGT_MSH6 1 1 - - - - Ins c912ae88-3255-11e6-8ebc-3ef212ae24cf 15_92442499_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 92442499 TG T 540 PASS SLCO3A1 Del intronic 1 7 MSH6 child 15_92442499_TGT_MSH6 1 1 1 G 6 G Repeat-mediated c91635f2-328d-11e6-b805-77090e01a414 2_34203559_AAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 34203559 A AC 420 PASS AC009499.1 Ins intronic 1 2 MSH6 child 2_34203559_AAC_MSH6 1 1 - - - - Ins c9292366-3273-11e6-bfb2-2749c225ee11 12_96167508_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 96167508 AT A 600 PASS NTN4 Del intronic 1 9 MSH6 child 12_96167508_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c929faa2-328c-11e6-9c89-8d090e01a414 1_208169981_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 208169981 TA T 300 PASS - Del - 1 9 MSH6 child 1_208169981_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c92a5ddc-328a-11e6-821d-8c090e01a414 13_113446640_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 113446640 GA G 300 PASS ATP11A Del intronic 1 9 MSH6 child 13_113446640_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c9319bbe-3286-11e6-b32c-fd87a2c71c31 5_56677026_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 56677026 TA T 420 PASS - Del - 1 9 MSH6 child 5_56677026_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c933508c-329d-11e6-ae71-0c5325c9da85 1_228237495_CTTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 228237495 CTT C 780 PASS WNT3A Del intronic 2 8 MSH6 child 1_228237495_CTTC_MSH6 2 2 2 TT 6 T Repeat-mediated c93529de-3275-11e6-98dc-d270cde16804 22_40387611_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 22 40387611 CT C 540 PASS FAM83F Del upstream 1 9 MSH6 child 22_40387611_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c935e38c-328a-11e6-8459-82090e01a414 12_90949242_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 90949242 CT C 300 PASS - Del - 1 9 MSH6 child 12_90949242_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c93fa792-328e-11e6-b9c4-751d0e01a414 5_172739992_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 172739992 CT C 420 PASS STC2 Del downstream 1 8 MSH6 child 5_172739992_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c951d7ee-328b-11e6-bd84-429305ad5bc4 1_31580545_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 31580545 AT A 300 PASS - Del - 1 7 MSH6 child 1_31580545_ATA_MSH6 1 1 1 T 6 T Repeat-mediated c953f7ea-3272-11e6-a862-bc9becf1e924 1_26458835_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 26458835 GA G 480 PASS - Del - 1 7 MSH6 child 1_26458835_GAG_MSH6 1 1 1 A 6 A Repeat-mediated c955345c-328b-11e6-9340-3a91e7d0bdd7 12_118097723_TCAAAT . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 12 118097723 TCAAA T 360 PASS KSR2 Del intronic 4 1 POLM child 12_118097723_TCAAAT_POLM 4 4 3 CAA 0 - Microhomology-mediated c95b48bc-329d-11e6-91d0-016425c9da85 7_19482748_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 19482748 AT A 420 PASS AC007091.1 Del intronic 1 6 MSH6 child 7_19482748_ATA_MSH6 1 1 1 T 5 T Repeat-mediated c95d33e2-329e-11e6-9c44-d26625c9da85 21_31321250_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 31321250 CT C 660 PASS - Del - 1 9 MSH6 child 21_31321250_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c96bf35e-329a-11e6-9048-b49fcc638e3d 17_40488624_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 40488624 GA G 300 PASS STAT3 Del intronic 1 9 MSH6 child 17_40488624_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c96bfbb4-328c-11e6-b8e6-91c36f39e758 11_82355817_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 82355817 GA G 300 PASS RP11-179A16.2 Del upstream 1 9 MSH6 child 11_82355817_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c9783b0e-3287-11e6-9a8e-d2b1f6dffcf6 1_118980102_TTAAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 1 118980102 TTAA T 660 PASS - Del - 3 3 NUDT1 parent 1_118980102_TTAAT_NUDT1 3 3 3 TAA 2 TAA Repeat-mediated c97ac282-3284-11e6-a0a8-096ea2c71c31 11_38535167_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 38535167 GT G 420 PASS - Del - 1 6 MSH6 child 11_38535167_GTG_MSH6 1 1 1 T 5 T Repeat-mediated c9811162-329a-11e6-9048-b49fcc638e3d 17_40503576_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 40503576 CT C 420 PASS STAT3 Del intronic 1 8 MSH6 child 17_40503576_CTC_MSH6 1 1 1 T 7 T Repeat-mediated c98353cc-329b-11e6-ae71-0c5325c9da85 1_105039671_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 105039671 GA G 420 PASS - Del - 1 8 MSH6 child 1_105039671_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c985af6c-329d-11e6-a5cf-e5abcc638e3d 9_117243299_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 117243299 GA G 540 PASS DFNB31 Del intronic 1 9 MSH6 child 9_117243299_GAG_MSH6 1 1 1 A 8 A Repeat-mediated c989aa42-32a0-11e6-a04f-c66a25c9da85 6_97717076_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 97717076 TA T 660 PASS MMS22L Del intronic 1 8 MSH6 child 6_97717076_TAT_MSH6 1 1 1 A 7 A Repeat-mediated c98c6550-329d-11e6-bc2c-2a5e25c9da85 4_56595834_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 56595834 AC A 720 PASS - Del - 1 6 MSH6 child 4_56595834_ACA_MSH6 1 1 1 C 5 C Repeat-mediated c99a9b7e-326c-11e6-bc62-6d4742c4520d 16_15985713_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 15985713 TA T 420 PASS FOPNL Del upstream 1 9 MSH6 child 16_15985713_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c99d76d0-32a0-11e6-aea7-956725c9da85 3_155655366_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 155655366 AT A 660 PASS GMPS Del intronic 1 8 MSH6 child 3_155655366_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c99dd766-3254-11e6-a4a7-35f212ae24cf 14_98944221_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 98944221 TA T 600 PASS - Del - 1 9 MSH6 child 14_98944221_TAT_MSH6 1 1 1 A 8 A Repeat-mediated c99e76c8-328e-11e6-bfa2-581f0e01a414 7_126649900_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 126649900 CT C 300 PASS GRM8 Del intronic 1 9 MSH6 child 7_126649900_CTC_MSH6 1 1 1 T 8 T Repeat-mediated c9a3675c-3255-11e6-a304-347a7872c165 1_153779818_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 153779818 GA G 360 PASS GATAD2B Del 3prime_UTR_variant 1 8 MSH6 child 1_153779818_GAG_MSH6 1 1 1 A 7 A Repeat-mediated c9a6edce-329a-11e6-bda6-065325c9da85 13_77253451_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 77253451 AT A 540 PASS - Del - 1 9 MSH6 child 13_77253451_ATA_MSH6 1 1 1 T 8 T Repeat-mediated c9b6d32c-3288-11e6-b9eb-c78fa2c71c31 6_92211307_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 92211307 GT G 480 PASS - Del - 1 8 MSH6 child 6_92211307_GTG_MSH6 1 1 1 T 7 T Repeat-mediated c9beb632-328d-11e6-8c87-38240e01a414 22_26524462_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 26524462 AT A 480 PASS - Del - 1 8 MSH6 child 22_26524462_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c9c65734-3256-11e6-9d15-298312ae24cf X_49056271_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 49056271 AC A 300 PASS SYP Del intronic 1 6 MSH6 child X_49056271_ACA_MSH6 1 1 1 C 5 C Repeat-mediated c9c88fc6-328e-11e6-8952-77c36f39e758 10_87458820_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 87458820 G GT 360 PASS GRID1 Ins intronic 1 6 MSH6 child 10_87458820_GGT_MSH6 1 1 - - - - Ins c9d755ec-3270-11e6-b89d-b2d6b0dab373 4_85181361_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 85181361 AT A 660 PASS RP11-8L2.1 Del intronic 1 8 MSH6 child 4_85181361_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c9e0b176-3272-11e6-a685-a844e7d0bdd7 10_1714082_TGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 10 1714082 TG T 360 PASS ADARB2 Del intronic 1 7 EXO1 child 10_1714082_TGT_EXO1 1 1 1 G 6 G Repeat-mediated c9e9881e-3272-11e6-975f-8246cab49462 16_23360648_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 23360648 AT A 360 PASS SCNN1B Del intronic 1 8 MSH6 child 16_23360648_ATA_MSH6 1 1 1 T 7 T Repeat-mediated c9e99ca8-3274-11e6-afb6-12832aaffa45 8_55701695_TGGCAGGT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 8 55701695 TGGCAGG T 360 PASS - Del - 6 1 CHK2 child 8_55701695_TGGCAGGT_CHK2 6 6 2 GG 0 - Microhomology-mediated c9ead0ec-328c-11e6-b9c4-751d0e01a414 5_35265585_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 35265585 TG T 360 PASS - Del - 1 8 MSH6 child 5_35265585_TGT_MSH6 1 1 1 G 7 G Repeat-mediated c9ef6f9c-328e-11e6-ae53-96c36f39e758 15_61494373_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 61494373 A AT 300 PASS RORA Ins intronic 1 8 MSH6 child 15_61494373_AAT_MSH6 1 1 - - - - Ins ca00edae-3274-11e6-b7b8-aca7ecf1e924 12_80926546_CCTGGC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 12 80926546 CCTGG C 500 PASS PTPRQ Del intronic 4 1 NEIL1 child 12_80926546_CCTGGC_NEIL1 4 4 2 CT 0 - Microhomology-mediated ca00fa4e-328b-11e6-ae53-96c36f39e758 15_29448554_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 29448554 AT A 360 PASS FAM189A1 Del intronic 1 8 MSH6 child 15_29448554_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ca015ba6-329a-11e6-b549-1e5325c9da85 10_59897260_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 59897260 CT C 1020 PASS - Del - 1 8 MSH6 child 10_59897260_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ca11e876-3278-11e6-a391-f6d67d6a9fc7 6_88427413_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 88427413 TG T 840 PASS - Del - 1 6 MSH6 child 6_88427413_TGT_MSH6 1 1 1 G 5 G Repeat-mediated ca15d356-3286-11e6-b32c-fd87a2c71c31 5_57209084_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 57209084 TC T 300 PASS - Del - 1 4 MSH6 child 5_57209084_TCT_MSH6 1 1 1 C 3 C Repeat-mediated ca216a9a-328b-11e6-b805-77090e01a414 2_170653589_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 170653589 GT G 420 PASS SSB Del upstream 1 8 MSH6 child 2_170653589_GTG_MSH6 1 1 1 T 7 T Repeat-mediated ca27520c-3290-11e6-aa67-b667694da5d2 5_113067437_GAG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 5 113067437 GA G 480 PASS - Del - 1 1 POLM child 5_113067437_GAG_POLM 1 1 0 - 0 A None ca29b1f0-3321-11e6-be49-204207e9a829 1_65787202_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 1 65787202 AT A 480 PASS DNAJC6 Del intronic 1 9 POLE child 1_65787202_ATA_POLE 1 1 1 T 8 T Repeat-mediated ca3ec5bc-3278-11e6-a47c-77abeab8d062 5_130503292_AGTGTATTG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 130503292 AGTGT ATTG 1080 PASS LYRM7 Complex upstream 4 0 EXO1 child 5_130503292_AGTGTATTG_EXO1 1 1 - - - - Complex ca47555a-32a1-11e6-94ca-0aaecc638e3d X_154806160_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 154806160 G GA 540 PASS TMLHE Ins intronic 1 7 MSH6 child X_154806160_GGA_MSH6 1 1 - - - - Ins ca48131a-32a0-11e6-aea7-956725c9da85 3_155859055_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 155859055 AT A 420 PASS KCNAB1 Del upstream 1 5 MSH6 child 3_155859055_ATA_MSH6 1 1 1 T 4 T Repeat-mediated ca49d504-328e-11e6-9d24-ade56f39e758 7_13785591_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 13785591 CA C 660 PASS - Del - 1 7 MSH6 child 7_13785591_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ca5b4d8c-3272-11e6-bbeb-70bd19a91649 20_2852159_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 20 2852159 T TA 300 PASS PTPRA Ins upstream 1 8 MSH6 child 20_2852159_TTA_MSH6 1 1 - - - - Ins ca5d7f2a-3296-11e6-9baf-ebf997ba1142 14_54455195_TAT . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 14 54455195 TA T 300 PASS - Del - 1 7 CHK2 child 14_54455195_TAT_CHK2 1 1 1 A 6 A Repeat-mediated ca5dba36-328b-11e6-8952-77c36f39e758 10_14862563_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 14862563 TA T 420 PASS CDNF Del intronic 1 7 MSH6 child 10_14862563_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ca6a9000-329d-11e6-bc66-17b4cc638e3d 8_19896642_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 19896642 CT C 600 PASS - Del - 1 8 MSH6 child 8_19896642_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ca79db54-326c-11e6-9f48-94df41c4520d 12_17744157_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 17744157 CT C 360 PASS RP11-871F6.3 Del upstream 1 7 MSH6 child 12_17744157_CTC_MSH6 1 1 1 T 6 T Repeat-mediated ca817c56-3271-11e6-a721-59c27872c165 5_39749393_GAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 5 39749393 GA G 420 PASS - Del - 1 9 NEIL1 child 5_39749393_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated ca818138-326c-11e6-b2ac-b6204b47a305 17_9378552_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 9378552 AT A 300 PASS STX8 Del intronic 1 4 MSH6 child 17_9378552_ATA_MSH6 1 1 1 T 3 T Repeat-mediated ca84323a-3284-11e6-99f7-076ea2c71c31 12_32611052_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 32611052 AT A 660 PASS - Del - 1 8 MSH6 child 12_32611052_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ca86003e-3283-11e6-83b0-2c6e0d016689 2_9996834_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 9996834 TA T 420 PASS TAF1B Del intronic 1 7 EXO1 child 2_9996834_TAT_EXO1 1 1 1 A 6 A Repeat-mediated ca87ac92-3286-11e6-a5b3-3f1ebce6aa09 7_32419686_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 32419686 AT A 720 PASS - Del - 1 6 MSH6 child 7_32419686_ATA_MSH6 1 1 1 T 5 T Repeat-mediated ca8dbabc-3257-11e6-885f-d1947872c165 4_118296969_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 118296969 CT C 720 PASS AC113617.1 Del downstream 1 8 MSH6 child 4_118296969_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ca8e765c-3273-11e6-8f33-a6d9cde16804 11_125611225_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 125611225 AT A 300 PASS PATE1 Del upstream 1 7 MSH6 child 11_125611225_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ca8f3a48-3290-11e6-81a8-bb257a852e0e 16_77832594_TGACATCAAAAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 16 77832594 TGACATCAAAA T 360 PASS VAT1L Del intronic 10 1 CHK2 child 16_77832594_TGACATCAAAAT_CHK2 10 >=10 1 G 0 - Microhomology-mediated ca90d038-329a-11e6-aca6-b39fcc638e3d 2_66890914_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 66890914 AT A 780 PASS AC007392.3 Del intronic 1 5 MSH6 child 2_66890914_ATA_MSH6 1 1 1 T 4 T Repeat-mediated ca972222-3285-11e6-89eb-f2eacdacbbbf 4_131709669_AAT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 4 131709669 A AT 420 PASS - Ins - 1 1 EXO1 child 4_131709669_AAT_EXO1 1 1 - - - - Ins ca9bc5a4-3288-11e6-b9eb-c78fa2c71c31 6_92811104_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 92811104 TA T 540 PASS - Del - 1 5 MSH6 child 6_92811104_TAT_MSH6 1 1 1 A 4 A Repeat-mediated caa66384-32a0-11e6-bc2c-2a5e25c9da85 4_44769597_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 44769597 A AT 480 PASS - Ins - 1 1 MSH6 child 4_44769597_AAT_MSH6 1 1 - - - - Ins caa6cea6-3321-11e6-a632-bec270cce0de 15_22503779_GGCTGCAGTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 15 22503779 GGCTGCAGT G 600 PASS - Del - 8 1 EXO1 child 15_22503779_GGCTGCAGTG_EXO1 8 8 2 GC 0 - Microhomology-mediated caa8ad9c-3273-11e6-9ac5-e82e84482639 11_43773485_ACA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 11 43773485 AC A 420 PASS HSD17B12 Del intronic 1 1 EXO1 child 11_43773485_ACA_EXO1 1 1 0 - 0 C None caaa3310-32a0-11e6-a04f-c66a25c9da85 6_97974494_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 97974494 AT A 660 PASS - Del - 1 9 MSH6 child 6_97974494_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cab44066-328d-11e6-b6a6-1f1e0e01a414 4_81951746_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 81951746 TC T 480 PASS BMP3 Del upstream 1 7 MSH6 child 4_81951746_TCT_MSH6 1 1 1 C 6 C Repeat-mediated cab47714-3276-11e6-92d2-c259c225ee11 3_34889606_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 34889606 TA T 540 PASS - Del - 1 9 MSH6 child 3_34889606_TAT_MSH6 1 1 1 A 8 A Repeat-mediated cab9b35e-3272-11e6-b5b8-e0c24a47a305 X_121677949_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 121677949 T TA 300 PASS - Ins - 1 9 MSH6 child X_121677949_TTA_MSH6 1 1 - - - - Ins cabf6ef2-3272-11e6-9b10-3e7da20b69d5 15_70075524_ATA . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 15 70075524 AT A 780 PASS - Del - 1 6 NUDT1 child 15_70075524_ATA_NUDT1 1 1 1 T 5 T Repeat-mediated cac3d970-328a-11e6-b9eb-c78fa2c71c31 6_120857022_AAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 120857022 A AT 300 PASS - Ins - 1 6 MSH6 child 6_120857022_AAT_MSH6 1 1 - - - - Ins cac9a556-328c-11e6-b805-77090e01a414 2_231989300_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 231989300 GA G 420 PASS PSMD1 Del intronic 1 9 MSH6 child 2_231989300_GAG_MSH6 1 1 1 A 8 A Repeat-mediated cad575ae-3253-11e6-bc65-c9667872c165 13_36526323_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 36526323 GA G 600 PASS DCLK1 Del intronic 1 6 MSH6 child 13_36526323_GAG_MSH6 1 1 1 A 5 A Repeat-mediated cae07614-3287-11e6-b093-c9c7b0dab373 2_27964196_TTTTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 27964196 T TTTG 300 PASS - Ins - 3 7 MSH6 child 2_27964196_TTTTG_MSH6 3 3 - - - - Ins cae7969c-326e-11e6-bfba-13bf4a47a305 9_32921103_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 32921103 GA G 300 PASS - Del - 1 8 MSH6 child 9_32921103_GAG_MSH6 1 1 1 A 7 A Repeat-mediated caea2350-329e-11e6-bc2c-2a5e25c9da85 4_124537145_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 124537145 CT C 480 PASS - Del - 1 9 MSH6 child 4_124537145_CTC_MSH6 1 1 1 T 8 T Repeat-mediated caeabbca-328b-11e6-a7cf-80090e01a414 15_94766675_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 94766675 GT G 540 PASS - Del - 1 9 MSH6 child 15_94766675_GTG_MSH6 1 1 1 T 8 T Repeat-mediated caf27e64-3254-11e6-89d3-d29498816cf3 2_139578556_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 139578556 CA C 540 PASS - Del - 1 7 MSH6 child 2_139578556_CAC_MSH6 1 1 1 A 6 A Repeat-mediated caf3677a-329f-11e6-aea7-956725c9da85 3_82460595_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 82460595 AT A 780 PASS RP11-260O18.1 Del intronic 1 7 MSH6 child 3_82460595_ATA_MSH6 1 1 1 T 6 T Repeat-mediated caf71018-3282-11e6-aa13-78428e4678dd 5_11412569_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 11412569 CT C 420 PASS CTNND2 Del intronic 1 7 EXO1 child 5_11412569_CTC_EXO1 1 1 1 T 6 T Repeat-mediated cafee652-326f-11e6-819e-9d1aa20b69d5 11_81925506_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 81925506 AT A 420 PASS RP11-179A16.1 Del intronic 1 8 EXO1 parent 11_81925506_ATA_EXO1 1 1 1 T 7 T Repeat-mediated cb06bf3e-3284-11e6-a0a8-096ea2c71c31 11_39056320_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 39056320 TA T 348 PASS - Del - 1 7 MSH6 child 11_39056320_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cb0b42f6-326c-11e6-b9f4-5d1d694da5d2 14_33377283_GCG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 33377283 GC G 300 PASS - Del - 1 6 MSH6 child 14_33377283_GCG_MSH6 1 1 1 C 5 C Repeat-mediated cb0d7312-3287-11e6-a96d-ca044530f757 21_19062864_CACAC . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 21 19062864 CACA C 720 PASS - Del - 3 3 EXO1 child 21_19062864_CACAC_EXO1 3 3 3 ACA 2 ACA Repeat-mediated cb0ed992-3286-11e6-b093-c9c7b0dab373 2_197408031_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 197408031 GT G 720 PASS HECW2 Del intronic 1 5 MSH6 child 2_197408031_GTG_MSH6 1 1 1 T 4 T Repeat-mediated cb133f0a-3277-11e6-8c34-46e27872c165 5_172164410_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 172164410 CT C 480 PASS - Del - 1 9 MSH6 child 5_172164410_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cb1b6040-3290-11e6-9230-fb250e01a414 3_187953871_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 187953871 TA T 360 PASS LPP Del intronic 1 8 MSH6 child 3_187953871_TAT_MSH6 1 1 1 A 7 A Repeat-mediated cb1bafd4-3293-11e6-89b3-f12a3dc9300a 15_81752867_ATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 15 81752867 AT A 300 PASS CTD-2034I4.1 Del intronic 1 9 POLB child 15_81752867_ATA_POLB 1 1 1 T 8 T Repeat-mediated cb2c69a6-3346-11e6-994a-5ae3e9d19ece 11_101292410_ATTTTTATGA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 11 101292410 ATTTTTATG A 360 PASS - Del - 8 1 FANCC child 11_101292410_ATTTTTATGA_FANCC 8 8 5 TTTTT 0 - Microhomology-mediated cb318e52-3271-11e6-a0a7-943dc225ee11 1_204366694_CAC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 204366694 CA C 660 PASS - Del - 1 8 EXO1 parent 1_204366694_CAC_EXO1 1 1 1 A 7 A Repeat-mediated cb3337d0-3257-11e6-b4fa-e69a7872c165 21_18964946_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 18964946 AT A 480 PASS BTG3 Del downstream 1 9 MSH6 child 21_18964946_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cb33ed1e-3253-11e6-8ebc-3ef212ae24cf 15_30010054_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 30010054 CT C 480 PASS TJP1 Del intronic 1 7 MSH6 child 15_30010054_CTC_MSH6 1 1 1 T 6 T Repeat-mediated cb3b1664-328c-11e6-9f30-37ab4430f757 11_26366807_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 11 26366807 TA T 660 PASS ANO3 Del intronic 1 8 POLE child 11_26366807_TAT_POLE 1 1 1 A 7 A Repeat-mediated cb46c3a2-3321-11e6-be49-204207e9a829 1_66103459_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 1 66103459 AT A 720 PASS LEPR Del 3prime_UTR_variant 1 6 POLE child 1_66103459_ATA_POLE 1 1 1 T 5 T Repeat-mediated cb47119c-327a-11e6-a05d-037890e2c2e6 12_131031766_TAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 12 131031766 TA T 540 PASS RIMBP2 Del intronic 1 9 FANCC parent 12_131031766_TAT_FANCC 1 1 1 A 8 A Repeat-mediated cb47d7b6-3271-11e6-abaf-4642cab49462 6_19464810_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 19464810 CT C 360 PASS - Del - 1 9 MSH6 child 6_19464810_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cb55e4ee-328c-11e6-bd84-429305ad5bc4 1_171140167_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 171140167 TG T 480 PASS - Del - 1 1 MSH6 child 1_171140167_TGT_MSH6 1 1 0 - 0 G None cb57ec08-3255-11e6-a304-347a7872c165 1_154025200_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 154025200 CA C 840 PASS NUP210L Del intronic 1 5 MSH6 child 1_154025200_CAC_MSH6 1 1 1 A 4 A Repeat-mediated cb5d0332-334a-11e6-8b31-52813cfdbd24 7_122918158_GAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 7 122918158 GA G 420 PASS - Del - 1 5 FANCC child 7_122918158_GAG_FANCC 1 1 1 A 4 A Repeat-mediated cb64f120-329e-11e6-aea7-956725c9da85 3_20468035_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 20468035 CT C 300 PASS - Del - 1 9 MSH6 child 3_20468035_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cb6f2fc2-3286-11e6-a284-4b89a2c71c31 4_23919852_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 23919852 CT C 300 PASS - Del - 1 8 MSH6 child 4_23919852_CTC_MSH6 1 1 1 T 7 T Repeat-mediated cb6f8f4e-3254-11e6-a304-347a7872c165 1_78302117_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 78302117 TA T 300 PASS FAM73A Del intronic 1 8 MSH6 child 1_78302117_TAT_MSH6 1 1 1 A 7 A Repeat-mediated cb79cd36-326f-11e6-815d-97ef65a58581 12_58363560_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 12 58363560 TA T 840 PASS - Del - 1 7 NUDT1 child 12_58363560_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated cb7d1916-3281-11e6-8ed4-2098faf1a024 20_34135263_TGT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 20 34135263 TG T 600 PASS ERGIC3 Del splice_region 1 7 POLB parent 20_34135263_TGT_POLB 1 1 1 G 6 G Repeat-mediated cb7e57d8-3275-11e6-ab69-1c1607e9a829 9_97107397_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 97107397 GA G 289 PASS RP11-307E17.8 Del intronic 1 8 MSH6 child 9_97107397_GAG_MSH6 1 1 1 A 7 A Repeat-mediated cb870d9c-3284-11e6-a8af-066ea2c71c31 15_47152178_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 47152178 CA C 540 PASS - Del - 1 9 MSH6 child 15_47152178_CAC_MSH6 1 1 1 A 8 A Repeat-mediated cb88d518-326c-11e6-b2ac-b6204b47a305 17_9527423_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 9527423 AT A 420 PASS WDR16 Del intronic 1 6 MSH6 child 17_9527423_ATA_MSH6 1 1 1 T 5 T Repeat-mediated cb8985d0-328a-11e6-a80b-87090e01a414 11_95118554_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 95118554 AG A 300 PASS - Del - 1 2 MSH6 child 11_95118554_AGA_MSH6 1 1 1 G 1 G Repeat-mediated cb8a71ee-328e-11e6-9d97-efe56f39e758 4_11685109_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 11685109 GA G 480 PASS RP11-281P23.2 Del intronic 1 3 MSH6 child 4_11685109_GAG_MSH6 1 1 1 A 2 A Repeat-mediated cb8dc41a-3280-11e6-88ca-c78169062303 16_24531335_GTG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 16 24531335 GT G 300 PASS - Del - 1 5 FANCC child 16_24531335_GTG_FANCC 1 1 1 T 4 T Repeat-mediated cb8e5988-328b-11e6-bd84-429305ad5bc4 1_32425467_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 32425467 AT A 540 PASS - Del - 1 8 MSH6 child 1_32425467_ATA_MSH6 1 1 1 T 7 T Repeat-mediated cb93556c-3292-11e6-9401-04ed6f39e758 3_196118446_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 196118446 AT A 420 PASS UBXN7 Del intronic 1 7 MSH6 child 3_196118446_ATA_MSH6 1 1 1 T 6 T Repeat-mediated cb94ff28-3285-11e6-a0a8-096ea2c71c31 11_133221720_CAAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 133221720 CAA C 300 PASS OPCML Del intronic 2 3 MSH6 child 11_133221720_CAAC_MSH6 2 2 1 A 0 - Microhomology-mediated cb952ee8-3286-11e6-a035-b215987b3f23 7_154841315_ATA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 7 154841315 AT A 300 PASS - Del - 1 8 NEIL1 parent 7_154841315_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated cba4e336-3283-11e6-888b-2d6e0d016689 18_7064154_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 18 7064154 AT A 420 PASS LAMA1 Del intronic 1 9 EXO1 child 18_7064154_ATA_EXO1 1 1 1 T 8 T Repeat-mediated cba7676a-3291-11e6-881f-a0bf4430f757 6_64320899_TAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 6 64320899 TA T 300 PASS - Del - 1 8 POLE child 6_64320899_TAT_POLE 1 1 1 A 7 A Repeat-mediated cba7aa84-3289-11e6-a70a-47793adbad45 3_5749388_TCT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 3 5749388 TC T 600 PASS - Del - 1 8 NUDT1 parent 3_5749388_TCT_NUDT1 1 1 1 C 7 C Repeat-mediated cba87c0a-329f-11e6-aea7-956725c9da85 3_82798119_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 82798119 TA T 300 PASS - Del - 1 7 MSH6 child 3_82798119_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cbb5adb2-3286-11e6-b093-c9c7b0dab373 2_197700546_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 197700546 TA T 720 PASS PGAP1 Del 3prime_UTR_variant 1 6 MSH6 child 2_197700546_TAT_MSH6 1 1 1 A 5 A Repeat-mediated cbb7ba9e-328b-11e6-8e38-06cf69062303 4_32094416_GAG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 4 32094416 GA G 420 PASS RP11-734I18.1 Del intronic 1 7 CHK2 child 4_32094416_GAG_CHK2 1 1 1 A 6 A Repeat-mediated cbb995f0-3270-11e6-9309-bdc34a47a305 8_64486113_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 64486113 AT A 360 PASS - Del - 1 5 MSH6 child 8_64486113_ATA_MSH6 1 1 1 T 4 T Repeat-mediated cbc73d8e-3272-11e6-8f33-a6d9cde16804 11_38046519_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 38046519 GA G 420 PASS - Del - 1 9 MSH6 child 11_38046519_GAG_MSH6 1 1 1 A 8 A Repeat-mediated cbc954b0-328c-11e6-bba4-c0bdcc638e3d 9_140823049_CTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 9 140823049 CT C 540 PASS CACNA1B Del intronic 1 8 NUDT1 child 9_140823049_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated cbce15ce-3285-11e6-9e76-639d69062303 8_123537434_ATCTA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 8 123537434 ATCT A 300 PASS - Del - 3 2 FANCC child 8_123537434_ATCTA_FANCC 3 3 3 TCT 1 TCT Repeat-mediated cbd0bfe6-3289-11e6-a4b4-e6cd191589db 17_43294188_TCAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 17 43294188 TCA T 540 PASS FMNL1 Del upstream 2 6 FANCC child 17_43294188_TCAT_FANCC 2 2 2 CA 5 CA Repeat-mediated cbd38cea-3279-11e6-a391-f6d67d6a9fc7 6_158968398_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 158968398 GT G 540 PASS TMEM181 Del intronic 1 8 MSH6 child 6_158968398_GTG_MSH6 1 1 1 T 7 T Repeat-mediated cbd59608-329b-11e6-aca6-b39fcc638e3d 2_132510494_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 132510494 GA G 1029 PASS C2orf27A Del intronic 1 8 MSH6 child 2_132510494_GAG_MSH6 1 1 1 A 7 A Repeat-mediated cbd960d6-3272-11e6-b332-88ba7d6a9fc7 15_38556012_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 38556012 TA T 540 PASS SPRED1 Del intronic 1 8 MSH6 child 15_38556012_TAT_MSH6 1 1 1 A 7 A Repeat-mediated cbe484c6-3271-11e6-9850-b83e75253f64 12_65296651_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 12 65296651 AT A 420 PASS RP11-766N7.3 Del intronic 1 9 FANCC child 12_65296651_ATA_FANCC 1 1 1 T 8 T Repeat-mediated cbe5ff9a-3276-11e6-9e25-e58e2aaffa45 4_129864049_CAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 129864049 CA C 480 PASS SCLT1 Del intronic 1 9 EXO1 child 4_129864049_CAC_EXO1 1 1 1 A 8 A Repeat-mediated cbea56de-328b-11e6-a7cf-80090e01a414 15_94984229_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 94984229 CT C 360 PASS MCTP2 Del intronic 1 9 MSH6 child 15_94984229_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cbfb8c00-328c-11e6-bd84-429305ad5bc4 1_171585385_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 171585385 CA C 600 PASS - Del - 1 7 MSH6 child 1_171585385_CAC_MSH6 1 1 1 A 6 A Repeat-mediated cc0d3848-328b-11e6-919e-92c36f39e758 2_22481013_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 22481013 AT A 660 PASS AC068490.2 Del intronic 1 8 MSH6 child 2_22481013_ATA_MSH6 1 1 1 T 7 T Repeat-mediated cc0e361e-329d-11e6-bc66-17b4cc638e3d 8_20476208_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 20476208 GA G 360 PASS - Del - 1 9 MSH6 child 8_20476208_GAG_MSH6 1 1 1 A 8 A Repeat-mediated cc20bd3a-329c-11e6-ae71-0c5325c9da85 1_169261078_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 169261078 GT G 900 PASS NME7 Del intronic 1 8 MSH6 child 1_169261078_GTG_MSH6 1 1 1 T 7 T Repeat-mediated cc26fad0-3290-11e6-9432-c0e56f39e758 5_156488349_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 156488349 CA C 480 PASS HAVCR1 Del upstream 1 7 MSH6 child 5_156488349_CAC_MSH6 1 1 1 A 6 A Repeat-mediated cc275b7e-329a-11e6-bda6-065325c9da85 13_78129251_TTGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 78129251 TTG T 780 PASS SCEL Del intronic 2 6 MSH6 child 13_78129251_TTGT_MSH6 2 2 2 TG 5 TG Repeat-mediated cc37e43e-328c-11e6-8f4b-33ab4430f757 13_45070664_CAC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 13 45070664 CA C 840 PASS TSC22D1 Del intronic 1 7 POLE child 13_45070664_CAC_POLE 1 1 1 A 6 A Repeat-mediated cc37f414-3274-11e6-ab69-1c1607e9a829 9_11149767_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 11149767 CA C 720 PASS - Del - 1 3 MSH6 child 9_11149767_CAC_MSH6 1 1 1 A 2 A Repeat-mediated cc41f950-329c-11e6-b549-1e5325c9da85 10_36681498_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 36681498 A AT 660 PASS - Ins - 1 6 MSH6 child 10_36681498_AAT_MSH6 1 1 - - - - Ins cc42bee4-3323-11e6-a632-bec270cce0de 15_89705373_GGTTACG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 15 89705373 GGTTAC G 660 PASS ABHD2 Del intronic 5 1 EXO1 child 15_89705373_GGTTACG_EXO1 5 5 1 G 0 - Microhomology-mediated cc43b4b2-329b-11e6-aca6-b39fcc638e3d 2_132631952_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 132631952 CT C 418 PASS - Del - 1 8 MSH6 child 2_132631952_CTC_MSH6 1 1 1 T 7 T Repeat-mediated cc4d070a-3274-11e6-a5d0-4fd14a47a305 2_208608309_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 208608309 TA T 660 PASS CCNYL1 Del intronic 1 7 MSH6 child 2_208608309_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cc4d9ba2-326f-11e6-9fba-41ebd8b4fa2c 11_121599531_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 121599531 TA T 780 PASS - Del - 1 8 MSH6 child 11_121599531_TAT_MSH6 1 1 1 A 7 A Repeat-mediated cc4e729c-3289-11e6-a100-84090e01a414 18_37833495_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 37833495 AT A 300 PASS - Del - 1 9 MSH6 child 18_37833495_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cc50189a-3270-11e6-8418-1c5942c4520d 3_77056489_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 77056489 AT A 360 PASS ROBO2 Del intronic 1 7 MSH6 child 3_77056489_ATA_MSH6 1 1 1 T 6 T Repeat-mediated cc526c8e-329e-11e6-bc2c-2a5e25c9da85 4_124776493_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 124776493 CT C 840 PASS LINC01091 Del intronic 1 8 MSH6 child 4_124776493_CTC_MSH6 1 1 1 T 7 T Repeat-mediated cc53ef50-3320-11e6-86a6-3f737098ee92 14_23183165_GATATTACTCCCAATATCGCAGGGGGTGTGCACCCTCCCTGTGATTTTATTCCTAATATTCAGGTGGGAAGAGGATGATATTACTCCCAATATCGCAGGTGGGGAAAACACCCCGCCTGTGATATTGTTCTTAATATCCATTAAGGGAGCAGATGATATTACTCCCAAAATTGCAGTGAGTGTACACCCACCCTGTAATATTGTTCCTAATATCCCGGGAGGGAGAGTATGTTGTTACTACCAATTTCGAAGGGGGCGTACACCCCCTCTGTGATACTGTTTTTAATATCCAAGGGGAAAGAGGATTG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 14 23183165 GATATTACTCCCAATATCGCAGGGGGTGTGCACCCTCCCTGTGATTTTATTCCTAATATTCAGGTGGGAAGAGGATGATATTACTCCCAATATCGCAGGTGGGGAAAACACCCCGCCTGTGATATTGTTCTTAATATCCATTAAGGGAGCAGATGATATTACTCCCAAAATTGCAGTGAGTGTACACCCACCCTGTAATATTGTTCCTAATATCCCGGGAGGGAGAGTATGTTGTTACTACCAATTTCGAAGGGGGCGTACACCCCCTCTGTGATACTGTTTTTAATATCCAAGGGGAAAGAGGATT G 360 PASS - Del - 306 1 POLE child 14_23183165_GATATTACTCCCAATATCGCAGGGGGTGTGCACCCTCCCTGTGATTTTATTCCTAATATTCAGGTGGGAAGAGGATGATATTACTCCCAATATCGCAGGTGGGGAAAACACCCCGCCTGTGATATTGTTCTTAATATCCATTAAGGGAGCAGATGATATTACTCCCAAAATTGCAGTGAGTGTACACCCACCCTGTAATATTGTTCCTAATATCCCGGGAGGGAGAGTATGTTGTTACTACCAATTTCGAAGGGGGCGTACACCCCCTCTGTGATACTGTTTTTAATATCCAAGGGGAAAGAGGATTG_POLE 306 >=10 32 ATATTACTCCCAATATCGCAGGGGGTGTGCAC 0 - Microhomology-mediated cc5717a6-329f-11e6-ae71-0c5325c9da85 1_83131544_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 83131544 A AT 600 PASS - Ins - 1 6 MSH6 child 1_83131544_AAT_MSH6 1 1 - - - - Ins cc572b20-3253-11e6-89d3-d29498816cf3 2_32857041_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 32857041 AT A 300 PASS TTC27 Del intronic 1 8 MSH6 child 2_32857041_ATA_MSH6 1 1 1 T 7 T Repeat-mediated cc576798-328f-11e6-aeaf-bc257a852e0e 14_45931771_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 14 45931771 CT C 300 PASS - Del - 1 9 CHK2 child 14_45931771_CTC_CHK2 1 1 1 T 8 T Repeat-mediated cc5f5fba-329a-11e6-aca6-b39fcc638e3d 2_67313110_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 67313110 TA T 480 PASS AC023115.2 Del upstream 1 6 MSH6 child 2_67313110_TAT_MSH6 1 1 1 A 5 A Repeat-mediated cc631e36-328e-11e6-b10a-17a5e7d0bdd7 1_91890408_GTCG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 1 91890408 GTC G 342 PASS - Del - 2 2 FANCC child 1_91890408_GTCG_FANCC 2 2 2 TC 1 TC Repeat-mediated cc6994d2-328e-11e6-bec1-ca1d0e01a414 X_124385497_ATCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 124385497 ATC A 300 PASS - Del - 2 6 MSH6 child X_124385497_ATCA_MSH6 2 2 2 TC 5 TC Repeat-mediated cc6a4f7e-3321-11e6-842f-4d64694da5d2 19_47638772_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 19 47638772 CT C 540 PASS SAE1 Del intronic 1 8 EXO1 child 19_47638772_CTC_EXO1 1 1 1 T 7 T Repeat-mediated cc6fc2fe-3251-11e6-a0fd-5905ee3c4f5d 10_15229510_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 10 15229510 CA C 420 PASS - Del - 1 8 POLB child 10_15229510_CAC_POLB 1 1 1 A 7 A Repeat-mediated cc79950e-3274-11e6-a5d0-4fd14a47a305 2_208654832_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 208654832 CT C 420 PASS - Del - 1 9 MSH6 child 2_208654832_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cc8da4a8-3275-11e6-a862-bc9becf1e924 1_228791909_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 228791909 CT C 540 PASS - Del - 1 9 MSH6 child 1_228791909_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cc90ae3c-3270-11e6-9628-9094dcd214c4 14_82561384_GGA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 14 82561384 G GA 960 PASS - Ins - 1 4 POLM child 14_82561384_GGA_POLM 1 1 - - - - Ins cc928616-3285-11e6-8313-52c92daed38e 6_31272547_AGAAACC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 6 31272547 AGAA ACC 660 PASS XXbac-BPG248L24.13 Complex upstream 3 0 POLB child 6_31272547_AGAAACC_POLB 1 1 - - - - Complex cc93585e-3256-11e6-9d15-298312ae24cf X_50533490_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 50533490 CA C 600 PASS SHROOM4 Del intronic 1 7 MSH6 child X_50533490_CAC_MSH6 1 1 1 A 6 A Repeat-mediated cc982960-328d-11e6-9d41-3ba5e7d0bdd7 11_16321408_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 11 16321408 TA T 360 PASS SOX6 Del intronic 1 7 FANCC child 11_16321408_TAT_FANCC 1 1 1 A 6 A Repeat-mediated cc9f79b0-3272-11e6-83ef-69fb06e9a829 18_29006549_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 29006549 TA T 300 PASS - Del - 1 9 MSH6 child 18_29006549_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ccbc6e6c-3272-11e6-9e18-3a69671699ea 10_28510245_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 28510245 AT A 300 PASS MPP7 Del intronic 1 8 MSH6 child 10_28510245_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ccbf5f20-3289-11e6-8459-82090e01a414 12_29818083_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 29818083 CA C 1200 PASS TMTC1 Del intronic 1 9 MSH6 child 12_29818083_CAC_MSH6 1 1 1 A 8 A Repeat-mediated ccc00f3c-328a-11e6-b805-77090e01a414 2_100599836_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 100599836 GT G 480 PASS AFF3 Del intronic 1 9 MSH6 child 2_100599836_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ccc167de-3293-11e6-8669-5f48a178171f 15_73170802_CTTTTAATTGACATTTTGTC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 15 73170802 CTTTTAATTGACATTTTGT C 420 PASS - Del - 18 1 NEIL1 child 15_73170802_CTTTTAATTGACATTTTGTC_NEIL1 18 >=10 17 TTTTAATTGACATTTTG 0 - Microhomology-mediated ccc27874-328c-11e6-88c1-95c36f39e758 14_94589499_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 94589499 CT C 840 PASS IFI27L2 Del downstream 1 9 MSH6 child 14_94589499_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ccc522e6-3281-11e6-a31e-d655f7d33ce3 1_102492112_CTC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 1 102492112 CT C 540 PASS - Del - 1 7 NUDT1 child 1_102492112_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated ccc72916-3285-11e6-821e-69f1bbe6aa09 16_27974329_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 27974329 C CT 540 PASS GSG1L Ins intronic 1 2 MSH6 child 16_27974329_CCT_MSH6 1 1 - - - - Ins cccc9c8e-3276-11e6-83cd-a472a178171f 4_127368383_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 127368383 GA G 660 PASS - Del - 1 5 MSH6 child 4_127368383_GAG_MSH6 1 1 1 A 4 A Repeat-mediated cccf2f40-328e-11e6-b6a6-1f1e0e01a414 4_146542744_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 146542744 TG T 360 PASS MMAA Del intronic 1 8 MSH6 child 4_146542744_TGT_MSH6 1 1 1 G 7 G Repeat-mediated ccdd5e32-326e-11e6-9d68-ac9acab49462 15_90484388_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 90484388 CT C 300 PASS - Del - 1 8 MSH6 child 15_90484388_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ccec6a9a-329a-11e6-8d0f-075325c9da85 14_73941737_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 73941737 TA T 660 PASS HEATR4 Del downstream 1 9 MSH6 child 14_73941737_TAT_MSH6 1 1 1 A 8 A Repeat-mediated cced08b8-326f-11e6-bfba-13bf4a47a305 9_130957105_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 130957105 CA C 420 PASS CIZ1 Del intronic 1 9 MSH6 child 9_130957105_CAC_MSH6 1 1 1 A 8 A Repeat-mediated ccf1f002-3275-11e6-9e25-e58e2aaffa45 4_31114663_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 31114663 AT A 300 PASS PCDH7 Del intronic 1 8 EXO1 child 4_31114663_ATA_EXO1 1 1 1 T 7 T Repeat-mediated ccffbfa8-3251-11e6-b4e1-b8e612ae24cf 18_14788046_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 18 14788046 CT C 660 PASS ANKRD30B Del intronic 1 5 POLB child 18_14788046_CTC_POLB 1 1 1 T 4 T Repeat-mediated cd07fa14-3284-11e6-9daa-026ea2c71c31 14_62577384_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 62577384 AT A 360 PASS RP11-355I22.2 Del intronic 1 9 MSH6 child 14_62577384_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cd16f530-329a-11e6-b74d-b59fcc638e3d 18_62461060_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 62461060 AT A 300 PASS - Del - 1 7 MSH6 child 18_62461060_ATA_MSH6 1 1 1 T 6 T Repeat-mediated cd1b1fa8-329e-11e6-aea7-956725c9da85 3_20940950_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 20940950 TA T 540 PASS - Del - 1 7 MSH6 child 3_20940950_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cd2349fa-3256-11e6-89d3-d29498816cf3 2_101200758_AAAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 101200758 A AAG 420 PASS - Ins - 2 1 MSH6 child 2_101200758_AAAG_MSH6 2 2 - - - - Ins cd292e34-328c-11e6-bd84-429305ad5bc4 1_172264997_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 172264997 GA G 780 PASS DNM3 Del intronic 1 7 MSH6 child 1_172264997_GAG_MSH6 1 1 1 A 6 A Repeat-mediated cd2e0d1a-3272-11e6-83ef-69fb06e9a829 18_29302122_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 29302122 CA C 540 PASS - Del - 1 8 MSH6 child 18_29302122_CAC_MSH6 1 1 1 A 7 A Repeat-mediated cd2f8fb8-3291-11e6-a24a-86b34430f757 5_26785051_AAAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 5 26785051 A AAT 480 PASS - Ins - 2 5 POLE child 5_26785051_AAAT_POLE 2 2 - - - - Ins cd2fd7fe-3325-11e6-91f6-970e147bb207 6_1968336_CCCCTCCAAACTCATTAC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 1968336 CCCCTCCAAACTCATTA C 300 PASS GMDS Del intronic 16 1 EXO1 child 6_1968336_CCCCTCCAAACTCATTAC_EXO1 16 >=10 0 - 0 - None cd3f5a6c-328f-11e6-9d97-efe56f39e758 4_78936284_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 78936284 GA G 300 PASS - Del - 1 8 MSH6 child 4_78936284_GAG_MSH6 1 1 1 A 7 A Repeat-mediated cd41d166-3325-11e6-913e-809e7098ee92 5_137883914_GACG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 5 137883914 GAC G 360 PASS ETF1 Del upstream 2 1 POLE child 5_137883914_GACG_POLE 2 2 1 A 0 - Microhomology-mediated cd43cebc-328a-11e6-9c89-8d090e01a414 1_85074572_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 85074572 TA T 660 PASS - Del - 1 7 MSH6 child 1_85074572_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cd450e1c-3276-11e6-b332-88ba7d6a9fc7 15_80458799_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 80458799 G GT 300 PASS FAH Ins intronic 1 4 MSH6 child 15_80458799_GGT_MSH6 1 1 - - - - Ins cd49f69e-328e-11e6-8e48-791e0e01a414 8_80332678_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 80332678 GA G 300 PASS - Del - 1 9 MSH6 child 8_80332678_GAG_MSH6 1 1 1 A 8 A Repeat-mediated cd4bf506-328a-11e6-8459-82090e01a414 12_92033689_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 92033689 CT C 600 PASS - Del - 1 5 MSH6 child 12_92033689_CTC_MSH6 1 1 1 T 4 T Repeat-mediated cd54a196-328b-11e6-b43c-7ec36f39e758 16_15882412_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 15882412 GA G 360 PASS MYH11 Del intronic 1 9 MSH6 child 16_15882412_GAG_MSH6 1 1 1 A 8 A Repeat-mediated cd665416-328d-11e6-8d77-b5d8191589db 7_124007543_GAGGAAAAATG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 7 124007543 GAGGAAAAAT G 420 PASS - Del - 9 1 FANCC child 7_124007543_GAGGAAAAATG_FANCC 9 9 1 A 0 - Microhomology-mediated cd6c0544-326c-11e6-adc2-b7204b47a305 18_14441510_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 14441510 TA T 251 PASS - Del - 1 7 MSH6 child 18_14441510_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cd6fa910-328a-11e6-aff5-85090e01a414 16_83304394_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 83304394 CT C 540 PASS CDH13 Del intronic 1 7 MSH6 child 16_83304394_CTC_MSH6 1 1 1 T 6 T Repeat-mediated cd712754-3253-11e6-8a2a-3af212ae24cf 16_16309943_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 16309943 CT C 359 PASS ABCC6 Del intronic 1 7 MSH6 child 16_16309943_CTC_MSH6 1 1 1 T 6 T Repeat-mediated cd815a92-3259-11e6-8cd9-139b7872c165 3_176610595_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 176610595 AT A 660 PASS - Del - 1 4 MSH6 child 3_176610595_ATA_MSH6 1 1 1 T 3 T Repeat-mediated cd8d1ffa-3284-11e6-8ebc-68f1bbe6aa09 18_48579822_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 48579822 GT G 480 PASS SMAD4 Del intronic 1 8 MSH6 child 18_48579822_GTG_MSH6 1 1 1 T 7 T Repeat-mediated cd92524a-3289-11e6-821d-8c090e01a414 13_48486408_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 48486408 CA C 360 PASS LINC00444 Del upstream 1 5 MSH6 child 13_48486408_CAC_MSH6 1 1 1 A 4 A Repeat-mediated cd946812-328b-11e6-b4fe-93c36f39e758 12_15412538_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 15412538 CA C 540 PASS RERG Del intronic 1 7 MSH6 child 12_15412538_CAC_MSH6 1 1 1 A 6 A Repeat-mediated cda3a220-3270-11e6-90e8-e7f6620e6611 19_2462056_TCAT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 19 2462056 TCA T 300 PASS AC005624.2 Del nc_variant 2 1 FANCC child 19_2462056_TCAT_FANCC 2 2 0 - 0 - None cdb06ec2-3272-11e6-83ef-69fb06e9a829 18_29422929_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 29422929 GT G 720 PASS TRAPPC8 Del intronic 1 9 MSH6 child 18_29422929_GTG_MSH6 1 1 1 T 8 T Repeat-mediated cdb3062e-328f-11e6-ae53-96c36f39e758 15_79587977_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 79587977 C CT 360 PASS ANKRD34C Ins 3prime_UTR_variant 1 1 MSH6 child 15_79587977_CCT_MSH6 1 1 - - - - Ins cdb69468-325a-11e6-8340-da9012ae24cf 6_160162537_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 160162537 AT A 420 PASS WTAP Del intronic 1 9 MSH6 child 6_160162537_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cdb7a182-328c-11e6-b6a6-1f1e0e01a414 4_22913323_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 22913323 CT C 780 PASS - Del - 1 7 MSH6 child 4_22913323_CTC_MSH6 1 1 1 T 6 T Repeat-mediated cdb9b65c-3287-11e6-b024-69a4b0dab373 20_17085057_GAG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 20 17085057 GA G 540 PASS - Del - 1 7 POLE parent 20_17085057_GAG_POLE 1 1 1 A 6 A Repeat-mediated cdbca0c0-3281-11e6-8c30-2208694da5d2 4_74951135_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 4 74951135 CA C 360 PASS - Del - 1 9 NEIL1 child 4_74951135_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated cdbe0406-329a-11e6-bda6-065325c9da85 13_78700316_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 78700316 TA T 1080 PASS - Del - 1 7 MSH6 child 13_78700316_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cdbe754c-326f-11e6-b89d-b2d6b0dab373 4_20819584_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 20819584 TA T 660 PASS KCNIP4 Del intronic 1 7 MSH6 child 4_20819584_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cdc0ca6e-328c-11e6-8e48-791e0e01a414 8_21049383_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 21049383 GA G 480 PASS - Del - 1 9 MSH6 child 8_21049383_GAG_MSH6 1 1 1 A 8 A Repeat-mediated cdccc39c-3290-11e6-b81f-4ee66f39e758 8_72941621_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 72941621 AT A 600 PASS TRPA1 Del intronic 1 7 MSH6 child 8_72941621_ATA_MSH6 1 1 1 T 6 T Repeat-mediated cdd3391e-326f-11e6-b89d-b2d6b0dab373 4_20846520_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 20846520 CA C 360 PASS KCNIP4 Del intronic 1 9 MSH6 child 4_20846520_CAC_MSH6 1 1 1 A 8 A Repeat-mediated cde1663e-3287-11e6-86fa-e88f1da8ec0e 21_31062077_GGT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 21 31062077 G GT 660 PASS GRIK1 Ins frameshift 1 3 EXO1 child 21_31062077_GGT_EXO1 1 1 - - - - Ins cde1b324-328b-11e6-b805-77090e01a414 2_171254151_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 171254151 GT G 300 PASS MYO3B Del intronic 1 5 MSH6 child 2_171254151_GTG_MSH6 1 1 1 T 4 T Repeat-mediated cde48f3a-3273-11e6-9e18-3a69671699ea 10_96150009_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 96150009 CA C 660 PASS - Del - 1 9 MSH6 child 10_96150009_CAC_MSH6 1 1 1 A 8 A Repeat-mediated cdea28c0-3280-11e6-a399-39859cdf095d 17_8411760_CTTAC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 17 8411760 CTTA C 780 PASS MYH10 Del intronic 3 3 POLE child 17_8411760_CTTAC_POLE 3 3 3 TTA 2 TTA Repeat-mediated cdea64b0-3272-11e6-aa3b-ca60a178171f 13_44568726_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 44568726 GT G 600 PASS LINC00284 Del intronic 1 9 MSH6 child 13_44568726_GTG_MSH6 1 1 1 T 8 T Repeat-mediated cdecf8b2-3284-11e6-94be-6cfa4430f757 12_69531313_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 69531313 TA T 360 PASS - Del - 1 8 EXO1 child 12_69531313_TAT_EXO1 1 1 1 A 7 A Repeat-mediated cdf281d2-326c-11e6-bc62-6d4742c4520d 16_17105948_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 17105948 GA G 480 PASS - Del - 1 8 MSH6 child 16_17105948_GAG_MSH6 1 1 1 A 7 A Repeat-mediated cdf50d96-3288-11e6-a8ac-a28ea2c71c31 3_115194977_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 115194977 TA T 540 PASS - Del - 1 6 MSH6 child 3_115194977_TAT_MSH6 1 1 1 A 5 A Repeat-mediated cdfa78fe-3287-11e6-b32c-fd87a2c71c31 5_173942015_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 173942015 GT G 540 PASS RP11-267A15.1 Del intronic 1 9 MSH6 child 5_173942015_GTG_MSH6 1 1 1 T 8 T Repeat-mediated cdfe45ce-3287-11e6-b32c-fd87a2c71c31 5_173956486_GCG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 173956486 GC G 660 PASS RP11-267A15.1 Del downstream 1 7 MSH6 child 5_173956486_GCG_MSH6 1 1 1 C 6 C Repeat-mediated ce07281a-32a0-11e6-bc2c-2a5e25c9da85 4_46317981_CCACACAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 46317981 C CACACAT 300 PASS GABRA2 Ins intronic 6 0 MSH6 child 4_46317981_CCACACAT_MSH6 6 6 - - - - Ins ce087856-328b-11e6-8952-77c36f39e758 10_15459140_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 15459140 CA C 360 PASS - Del - 1 6 MSH6 child 10_15459140_CAC_MSH6 1 1 1 A 5 A Repeat-mediated ce10a804-3291-11e6-bb4c-05a29b6d3b88 3_114367402_CAATC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 3 114367402 CAAT C 660 PASS ZBTB20 Del intronic 3 3 POLB child 3_114367402_CAATC_POLB 3 3 3 AAT 2 AAT Repeat-mediated ce12029a-3272-11e6-975f-8246cab49462 16_24390705_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 24390705 GA G 480 PASS - Del - 1 7 MSH6 child 16_24390705_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ce16d78e-3254-11e6-89d3-d29498816cf3 2_140757065_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 140757065 AT A 600 PASS - Del - 1 6 MSH6 child 2_140757065_ATA_MSH6 1 1 1 T 5 T Repeat-mediated ce1b5be2-3286-11e6-8b67-086ea2c71c31 1_215795232_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 215795232 TA T 360 PASS USH2A Del downstream 1 8 MSH6 child 1_215795232_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ce1e5084-326f-11e6-b89d-b2d6b0dab373 4_21042472_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 21042472 GT G 840 PASS KCNIP4 Del intronic 1 9 MSH6 child 4_21042472_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ce24d810-329b-11e6-a0ea-135325c9da85 15_80461736_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 80461736 CA C 600 PASS FAH Del intronic 1 6 MSH6 child 15_80461736_CAC_MSH6 1 1 1 A 5 A Repeat-mediated ce303ac0-328c-11e6-b6a6-1f1e0e01a414 4_23213010_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 23213010 AG A 300 PASS - Del - 1 5 MSH6 child 4_23213010_AGA_MSH6 1 1 1 G 4 G Repeat-mediated ce31cef0-3258-11e6-8cd9-139b7872c165 3_101328370_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 101328370 AT A 600 PASS - Del - 1 9 MSH6 child 3_101328370_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ce372d32-3285-11e6-90da-f3a469062303 6_123158286_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 123158286 CT C 540 PASS - Del - 1 9 FANCC child 6_123158286_CTC_FANCC 1 1 1 T 8 T Repeat-mediated ce47c7b4-3280-11e6-a363-a68d191589db 2_113006763_ACTA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 2 113006763 ACT A 480 PASS ZC3H8 Del intronic 2 2 POLM child 2_113006763_ACTA_POLM 2 2 2 CT 1 CT Repeat-mediated ce494fbc-328a-11e6-8feb-e6ab6f39e758 3_48062287_GGT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 3 48062287 G GT 300 PASS MAP4 Ins intronic 1 7 EXO1 child 3_48062287_GGT_EXO1 1 1 - - - - Ins ce55b536-328a-11e6-bbaf-7c090e01a414 19_52384316_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 52384316 CT C 300 PASS ZNF577 Del intronic 1 9 MSH6 child 19_52384316_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ce5c5ea4-32a3-11e6-b970-398625c9da85 20_32408481_TTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 32408481 T TG 780 PASS CHMP4B Ins intronic 1 5 MSH6 child 20_32408481_TTG_MSH6 1 1 - - - - Ins ce646e94-32a0-11e6-aea7-956725c9da85 3_157610310_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 157610310 GA G 480 PASS - Del - 1 9 MSH6 child 3_157610310_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ce6cdb00-3292-11e6-9070-b1a39b6d3b88 6_159987659_CTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 6 159987659 CT C 360 PASS - Del - 1 9 POLB child 6_159987659_CTC_POLB 1 1 1 T 8 T Repeat-mediated ce6fc346-3275-11e6-ae53-82ab977b3f23 3_36048298_TAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 3 36048298 TA T 360 PASS - Del - 1 6 NUDT1 child 3_36048298_TAT_NUDT1 1 1 1 A 5 A Repeat-mediated ce6ffd12-328d-11e6-b6a6-1f1e0e01a414 4_82998445_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 82998445 AT A 420 PASS - Del - 1 7 MSH6 child 4_82998445_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ce774268-329a-11e6-aca6-b39fcc638e3d 2_67686340_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 67686340 GT G 480 PASS - Del - 1 8 MSH6 child 2_67686340_GTG_MSH6 1 1 1 T 7 T Repeat-mediated ce78c16a-3290-11e6-9401-04ed6f39e758 3_54291495_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 54291495 AT A 540 PASS CACNA2D3 Del intronic 1 7 MSH6 child 3_54291495_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ce7beeb2-3290-11e6-9230-fb250e01a414 3_188990241_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 188990241 AT A 480 PASS TPRG1 Del intronic 1 9 MSH6 child 3_188990241_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ce7e1732-3254-11e6-b4d0-327a7872c165 11_83934395_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 83934395 TA T 300 PASS DLG2 Del intronic 1 8 MSH6 child 11_83934395_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ce866676-3290-11e6-bb1e-70e16f39e758 X_46926674_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 46926674 A AT 480 PASS - Ins - 1 7 MSH6 child X_46926674_AAT_MSH6 1 1 - - - - Ins ce8c689a-328c-11e6-aa75-90c36f39e758 13_100961223_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 100961223 GT G 300 PASS PCCA Del intronic 1 7 MSH6 child 13_100961223_GTG_MSH6 1 1 1 T 6 T Repeat-mediated ce8f8fac-329b-11e6-b085-e50098ba1142 4_103139606_AAATTTAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 4 103139606 A AATTTAC 480 PASS - Ins - 6 0 CHK2 child 4_103139606_AAATTTAC_CHK2 6 6 - - - - Ins ce9537da-328d-11e6-919e-92c36f39e758 2_157597357_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 157597357 CT C 540 PASS - Del - 1 8 MSH6 child 2_157597357_CTC_MSH6 1 1 1 T 7 T Repeat-mediated cea14888-3286-11e6-b093-c9c7b0dab373 2_198389367_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 198389367 AT A 960 PASS MOB4 Del intronic 1 8 MSH6 child 2_198389367_ATA_MSH6 1 1 1 T 7 T Repeat-mediated cea41156-3274-11e6-88b6-40832aaffa45 1_117296254_ACTGTA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 1 117296254 ACTGT A 660 PASS CD2 Del upstream 4 2 EXO1 child 1_117296254_ACTGTA_EXO1 4 4 4 CTGT 1 CTGT Repeat-mediated ceb3b11a-329c-11e6-a5cf-e5abcc638e3d 9_36729395_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 36729395 CA C 1020 PASS - Del - 1 6 MSH6 child 9_36729395_CAC_MSH6 1 1 1 A 5 A Repeat-mediated ceb4f482-3277-11e6-a71d-236235cec73b X_144717545_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 144717545 CT C 420 PASS - Del - 1 9 MSH6 child X_144717545_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ceb531f6-3284-11e6-821e-69f1bbe6aa09 16_34501726_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 34501726 TA T 540 PASS RP11-488I20.8 Del intronic 1 9 MSH6 child 16_34501726_TAT_MSH6 1 1 1 A 8 A Repeat-mediated cebc18e0-3284-11e6-9d58-b7936f39e758 17_69486583_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 17 69486583 CA C 480 PASS - Del - 1 9 EXO1 child 17_69486583_CAC_EXO1 1 1 1 A 8 A Repeat-mediated cec4f62e-334a-11e6-8b31-52813cfdbd24 7_124007543_GAGGAAAAATG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 7 124007543 GAGGAAAAAT G 300 PASS - Del - 9 1 FANCC child 7_124007543_GAGGAAAAATG_FANCC 9 9 1 A 0 - Microhomology-mediated cec8e4a6-328b-11e6-bd84-429305ad5bc4 1_33884265_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 33884265 CA C 420 PASS PHC2 Del intronic 1 8 MSH6 child 1_33884265_CAC_MSH6 1 1 1 A 7 A Repeat-mediated cecf80e0-329a-11e6-a0ea-135325c9da85 15_63547586_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 63547586 CT C 1140 PASS RAB8B Del intronic 1 5 MSH6 child 15_63547586_CTC_MSH6 1 1 1 T 4 T Repeat-mediated ced21a72-329e-11e6-aea7-956725c9da85 3_21391730_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 21391730 CT C 540 PASS - Del - 1 5 MSH6 child 3_21391730_CTC_MSH6 1 1 1 T 4 T Repeat-mediated ced495f0-3289-11e6-a284-4b89a2c71c31 4_104188605_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 104188605 C CA 900 PASS RP11-328K4.1 Ins intronic 1 6 MSH6 child 4_104188605_CCA_MSH6 1 1 - - - - Ins cedc6422-3254-11e6-a304-347a7872c165 1_79406426_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 79406426 GA G 480 PASS ELTD1 Del intronic 1 5 MSH6 child 1_79406426_GAG_MSH6 1 1 1 A 4 A Repeat-mediated cee6d186-328c-11e6-8e48-791e0e01a414 8_21580216_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 21580216 TC T 360 PASS GFRA2 Del intronic 1 7 MSH6 child 8_21580216_TCT_MSH6 1 1 1 C 6 C Repeat-mediated ceeaabe0-326d-11e6-b306-b5204b47a305 2_104306912_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 104306912 GA G 360 PASS - Del - 1 8 MSH6 child 2_104306912_GAG_MSH6 1 1 1 A 7 A Repeat-mediated ceeabc2a-327c-11e6-809e-fbdaeff7a29c 12_31562713_ATA . HAP1_POLB_35 HAP1_parental_75_WT_DNA 12 31562713 AT A 600 PASS DENND5B Del intronic 1 8 POLB parent 12_31562713_ATA_POLB 1 1 1 T 7 T Repeat-mediated cef0debc-3276-11e6-9e0f-7959cab49462 7_90133334_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 90133334 GA G 480 PASS - Del - 1 7 MSH6 child 7_90133334_GAG_MSH6 1 1 1 A 6 A Repeat-mediated cef370d8-329d-11e6-b549-1e5325c9da85 10_104449606_CCAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 104449606 C CAT 360 PASS ARL3 Ins intronic 2 5 MSH6 child 10_104449606_CCAT_MSH6 2 2 - - - - Ins cefffc04-3252-11e6-bb07-5705ee3c4f5d 11_102578224_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 11 102578224 CT C 828 PASS MMP8 Del downstream 1 9 POLB child 11_102578224_CTC_POLB 1 1 1 T 8 T Repeat-mediated cf041150-328d-11e6-8459-82090e01a414 12_130276372_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 130276372 C CA 480 PASS TMEM132D Ins intronic 1 2 MSH6 child 12_130276372_CCA_MSH6 1 1 - - - - Ins cf0968c4-3280-11e6-971a-ac2236fc2f7d 19_3981973_CAGAC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 19 3981973 CAGA C 300 PASS EEF2 Del inframe 3 1 NUDT1 child 19_3981973_CAGAC_NUDT1 3 3 2 AG 0 - Microhomology-mediated cf0ec054-3257-11e6-885f-d1947872c165 4_119587458_GCG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 119587458 GC G 345 PASS - Del - 1 7 MSH6 child 4_119587458_GCG_MSH6 1 1 1 C 6 C Repeat-mediated cf102d72-3298-11e6-bfe3-c11ec7271a47 2_216213045_GTG . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 216213045 GT G 360 PASS ATIC Del intronic 1 7 CHK2 child 2_216213045_GTG_CHK2 1 1 1 T 6 T Repeat-mediated cf194cd6-3347-11e6-b0ff-c495e84777f6 10_11315694_GGTT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 11315694 G GTT 300 PASS CELF2 Ins intronic 2 7 FANCC child 10_11315694_GGTT_FANCC 2 2 - - - - Ins cf1e074a-326f-11e6-9fba-41ebd8b4fa2c 11_122059451_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 122059451 CT C 300 PASS RP11-820L6.1 Del intronic 1 9 MSH6 child 11_122059451_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cf2043f2-3274-11e6-a2ca-20c1f7be831b 5_110144508_GTAG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 5 110144508 GTA G 360 PASS - Del - 2 7 CHK2 child 5_110144508_GTAG_CHK2 2 2 2 TA 6 TA Repeat-mediated cf20ae92-328c-11e6-a2f5-49ab4430f757 15_40410155_ATA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 15 40410155 AT A 480 PASS - Del - 1 9 POLE child 15_40410155_ATA_POLE 1 1 1 T 8 T Repeat-mediated cf233e34-328a-11e6-8459-82090e01a414 12_92563739_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 92563739 GT G 600 PASS - Del - 1 8 MSH6 child 12_92563739_GTG_MSH6 1 1 1 T 7 T Repeat-mediated cf251a60-328f-11e6-92cf-bf2a0e01a414 6_63869183_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 63869183 TA T 284 PASS - Del - 1 7 MSH6 child 6_63869183_TAT_MSH6 1 1 1 A 6 A Repeat-mediated cf25c18c-3284-11e6-9170-b6936f39e758 12_76664656_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 76664656 CA C 480 PASS RP11-54A9.1 Del intronic 1 8 EXO1 child 12_76664656_CAC_EXO1 1 1 1 A 7 A Repeat-mediated cf271b18-3289-11e6-821d-8c090e01a414 13_48967071_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 48967071 CT C 420 PASS RB1 Del intronic 1 6 MSH6 child 13_48967071_CTC_MSH6 1 1 1 T 5 T Repeat-mediated cf271ee6-3280-11e6-ba13-7508694da5d2 8_3130244_GCTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 8 3130244 GCT G 529 PASS CSMD1 Del intronic 2 3 NEIL1 child 8_3130244_GCTG_NEIL1 2 2 2 CT 2 CT Repeat-mediated cf2d0fa8-3272-11e6-abaf-4642cab49462 6_84911492_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 84911492 TA T 420 PASS KIAA1009 Del splice_region 1 6 MSH6 child 6_84911492_TAT_MSH6 1 1 1 A 5 A Repeat-mediated cf471972-3270-11e6-b923-6726694da5d2 5_95300942_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 95300942 GT G 600 PASS ELL2 Del upstream 1 9 MSH6 child 5_95300942_GTG_MSH6 1 1 1 T 8 T Repeat-mediated cf4fec44-328b-11e6-bd84-429305ad5bc4 1_34125927_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 34125927 CT C 360 PASS CSMD2 Del intronic 1 9 MSH6 child 1_34125927_CTC_MSH6 1 1 1 T 8 T Repeat-mediated cf590ea6-328a-11e6-a7cf-80090e01a414 15_72567220_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 72567220 AT A 540 PASS PARP6 Del upstream 1 9 MSH6 child 15_72567220_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cf5f9326-3270-11e6-a539-0e5542c4520d 7_133569367_TGTGTGTGCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 133569367 TGTGTGTGC T 300 PASS EXOC4 Del intronic 8 1 MSH6 child 7_133569367_TGTGTGTGCT_MSH6 8 8 1 G 0 - Microhomology-mediated cf635dc8-3291-11e6-9d97-efe56f39e758 4_10906122_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 10906122 G GA 480 PASS - Ins - 1 5 MSH6 child 4_10906122_GGA_MSH6 1 1 - - - - Ins cf6396aa-3276-11e6-92d2-c259c225ee11 3_37105146_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 37105146 AT A 420 PASS LRRFIP2 Del intronic 1 7 MSH6 child 3_37105146_ATA_MSH6 1 1 1 T 6 T Repeat-mediated cf641a92-3273-11e6-9065-cc4890e2c2e6 1_191431259_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 191431259 GA G 420 PASS - Del - 1 7 MSH6 parent 1_191431259_GAG_MSH6 1 1 1 A 6 A Repeat-mediated cf65125c-327e-11e6-bf31-92cf1f4bbf9c 2_124765127_GGCCCC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 2 124765127 G GCCCC 420 PASS - Ins - 4 4 POLM child 2_124765127_GGCCCC_POLM 4 4 - - - - Ins cf693b6e-3294-11e6-ae2c-d2ab9b6d3b88 3_88729622_GTG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 3 88729622 GT G 840 PASS - Del - 1 7 NUDT1 child 3_88729622_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated cf6c38c4-3275-11e6-9e0f-7959cab49462 7_24863229_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 24863229 GA G 720 PASS OSBPL3 Del intronic 1 8 MSH6 child 7_24863229_GAG_MSH6 1 1 1 A 7 A Repeat-mediated cf731752-3289-11e6-821d-8c090e01a414 13_49050462_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 49050462 CA C 660 PASS RB1 Del intronic 1 7 MSH6 child 13_49050462_CAC_MSH6 1 1 1 A 6 A Repeat-mediated cf75de60-3284-11e6-870e-6af1bbe6aa09 19_30260725_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 19 30260725 AT A 360 PASS - Del - 1 9 MSH6 child 19_30260725_ATA_MSH6 1 1 1 T 8 T Repeat-mediated cf885414-3324-11e6-819a-262af46126f1 X_130604960_CTC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA X 130604960 CT C 300 PASS - Del - 1 9 POLE child X_130604960_CTC_POLE 1 1 1 T 8 T Repeat-mediated cf9ee384-3273-11e6-9e18-3a69671699ea 10_96645636_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 96645636 TA T 360 PASS - Del - 1 8 MSH6 child 10_96645636_TAT_MSH6 1 1 1 A 7 A Repeat-mediated cfa5ee96-328b-11e6-a7cf-80090e01a414 15_96131748_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 96131748 CT C 480 PASS - Del - 1 4 MSH6 child 15_96131748_CTC_MSH6 1 1 1 T 3 T Repeat-mediated cfae6e86-329a-11e6-a5ec-650998ba1142 6_41049403_AATCA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 6 41049403 AATC A 540 PASS NFYA Del intronic 3 1 CHK2 child 6_41049403_AATCA_CHK2 3 3 2 AT 0 - Microhomology-mediated cfafd498-3294-11e6-800c-01f9d8b4fa2c 5_34638782_GTG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 5 34638782 GT G 360 PASS - Del - 1 8 NUDT1 child 5_34638782_GTG_NUDT1 1 1 1 T 7 T Repeat-mediated cfb05178-3273-11e6-a2ca-20c1f7be831b 5_33038672_GAG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 5 33038672 GA G 420 PASS CTD-2066L21.3 Del intronic 1 5 CHK2 child 5_33038672_GAG_CHK2 1 1 1 A 4 A Repeat-mediated cfb6a2e6-3285-11e6-a8af-066ea2c71c31 15_82049197_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 82049197 AT A 480 PASS RP11-499F3.2 Del intronic 1 8 MSH6 child 15_82049197_ATA_MSH6 1 1 1 T 7 T Repeat-mediated cfb8fbfe-3276-11e6-83cd-a472a178171f 4_128080514_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 128080514 CT C 600 PASS RP11-125O18.1 Del intronic 1 5 MSH6 child 4_128080514_CTC_MSH6 1 1 1 T 4 T Repeat-mediated cfc12d16-3289-11e6-9996-bebd38e8a824 X_10732603_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 10732603 AT A 360 PASS MID1 Del intronic 1 8 NUDT1 parent X_10732603_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated cfc98f10-3284-11e6-95c7-6dfa4430f757 11_70869300_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 11 70869300 TA T 647 PASS - Del - 1 8 EXO1 child 11_70869300_TAT_EXO1 1 1 1 A 7 A Repeat-mediated cfc9dcc6-3253-11e6-a4a7-35f212ae24cf 14_36178327_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 36178327 CA C 600 PASS RALGAPA1 Del intronic 1 9 MSH6 child 14_36178327_CAC_MSH6 1 1 1 A 8 A Repeat-mediated cfd02530-3281-11e6-9b5a-3d2f3dc9300a X_64316092_GTCGGGAGATGGGGTGGGGGGAGGGAGAGCATTAGAAAAATAGCTAATGCATGCTGGGCTTAATACTTAGGTGATGGGTTAATGATGCAGCTAACCACTATGGCACACGTTTACCTATGTAACAAACCTGCACGTCCTGCACATGTACCCCAGAACTAAAAATAAAAACAAATTAAAAAACGATGATTAATATGCTAAGGATTCTAATGGAAAAATAGACAACATGTAAGAATAGATTAGTAATGTAAGCAGAGACATGGAAATTCTAAGAATCAAAAAGAAAGGCTGGATAGAAATGAAGAATGCTTTTAATGGGCCTGTTAATAGACTGGGTATTGTTGAGAAAAGACATTCTGAGCTTGAGGATATATCAGTAGAAAACTGCAAAACTGAAAAGCAAAAAGAAGAAACATTGAAGAAAATGGGGCAGAGAATCATTTTTTGGCCTTTTGGCTAAGAAGTAAAAT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA X 64316092 GTCGGGAGATGGGGTGGGGGGAGGGAGAGCATTAGAAAAATAGCTAATGCATGCTGGGCTTAATACTTAGGTGATGGGTTAATGATGCAGCTAACCACTATGGCACACGTTTACCTATGTAACAAACCTGCACGTCCTGCACATGTACCCCAGAACTAAAAATAAAAACAAATTAAAAAACGATGATTAATATGCTAAGGATTCTAATGGAAAAATAGACAACATGTAAGAATAGATTAGTAATGTAAGCAGAGACATGGAAATTCTAAGAATCAAAAAGAAAGGCTGGATAGAAATGAAGAATGCTTTTAATGGGCCTGTTAATAGACTGGGTATTGTTGAGAAAAGACATTCTGAGCTTGAGGATATATCAGTAGAAAACTGCAAAACTGAAAAGCAAAAAGAAGAAACATTGAAGAAAATGGGGCAGAGAATCATTTTTTGGCCTTTTGGCTAAGAA GTAAAAT 480 PASS - Complex - 459 0 NEIL1 child X_64316092_GTCGGGAGATGGGGTGGGGGGAGGGAGAGCATTAGAAAAATAGCTAATGCATGCTGGGCTTAATACTTAGGTGATGGGTTAATGATGCAGCTAACCACTATGGCACACGTTTACCTATGTAACAAACCTGCACGTCCTGCACATGTACCCCAGAACTAAAAATAAAAACAAATTAAAAAACGATGATTAATATGCTAAGGATTCTAATGGAAAAATAGACAACATGTAAGAATAGATTAGTAATGTAAGCAGAGACATGGAAATTCTAAGAATCAAAAAGAAAGGCTGGATAGAAATGAAGAATGCTTTTAATGGGCCTGTTAATAGACTGGGTATTGTTGAGAAAAGACATTCTGAGCTTGAGGATATATCAGTAGAAAACTGCAAAACTGAAAAGCAAAAAGAAGAAACATTGAAGAAAATGGGGCAGAGAATCATTTTTTGGCCTTTTGGCTAAGAAGTAAAAT_NEIL1 453 >=10 - - - - Complex cfd2021c-328e-11e6-bec1-ca1d0e01a414 X_125684447_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 125684447 TA T 420 PASS DCAF12L1 Del 3prime_UTR_variant 1 9 MSH6 child X_125684447_TAT_MSH6 1 1 1 A 8 A Repeat-mediated cfd24fc2-328b-11e6-aff5-85090e01a414 16_47208941_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 47208941 G GA 840 PASS ITFG1 Ins intronic 1 2 MSH6 child 16_47208941_GGA_MSH6 1 1 - - - - Ins cfe2f98e-3287-11e6-afcf-0311bce6aa09 9_94129185_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 94129185 T TA 420 PASS AUH Ins upstream 1 9 MSH6 child 9_94129185_TTA_MSH6 1 1 - - - - Ins cfea6b44-328f-11e6-9432-c0e56f39e758 5_82515561_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 82515561 GA G 480 PASS XRCC4 Del intronic 1 6 MSH6 child 5_82515561_GAG_MSH6 1 1 1 A 5 A Repeat-mediated cfec4890-328c-11e6-8952-77c36f39e758 10_79821833_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 79821833 CT C 300 PASS - Del - 1 8 MSH6 child 10_79821833_CTC_MSH6 1 1 1 T 7 T Repeat-mediated cfedc888-326d-11e6-b306-b5204b47a305 2_105154303_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 105154303 TC T 660 PASS - Del - 1 7 MSH6 child 2_105154303_TCT_MSH6 1 1 1 C 6 C Repeat-mediated cff296c6-3324-11e6-925b-cca72aaffa45 X_144717545_CTC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA X 144717545 CT C 480 PASS - Del - 1 9 CHK2 child X_144717545_CTC_CHK2 1 1 1 T 8 T Repeat-mediated cff67ebe-3273-11e6-bf90-64cd7872c165 6_8820316_GAG . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 6 8820316 GA G 600 PASS - Del - 1 6 POLM child 6_8820316_GAG_POLM 1 1 1 A 5 A Repeat-mediated cffd486a-3292-11e6-b014-6aecb41afd22 2_29334669_ATA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 2 29334669 AT A 300 PASS CLIP4 Del upstream 1 9 NEIL1 child 2_29334669_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated d0115682-3258-11e6-8cd9-139b7872c165 3_101653175_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 101653175 GA G 300 PASS - Del - 1 9 MSH6 child 3_101653175_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d0147d96-3274-11e6-a8b6-76174530f757 12_132060630_CAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 12 132060630 CA C 321 PASS - Del - 1 4 EXO1 child 12_132060630_CAC_EXO1 1 1 1 A 3 A Repeat-mediated d019e9da-3287-11e6-8392-fc5a51c54cdd 7_65789450_TGT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 7 65789450 TG T 300 PASS TPST1 Del intronic 1 4 EXO1 child 7_65789450_TGT_EXO1 1 1 1 G 3 G Repeat-mediated d0203f52-326d-11e6-b306-b5204b47a305 2_105343923_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 105343923 AT A 420 PASS - Del - 1 7 MSH6 child 2_105343923_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d0212002-326d-11e6-b9f4-5d1d694da5d2 14_100197960_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 100197960 TC T 420 PASS CYP46A1 Del downstream 1 7 MSH6 child 14_100197960_TCT_MSH6 1 1 1 C 6 C Repeat-mediated d027ab1a-329b-11e6-ae71-0c5325c9da85 1_106561035_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 106561035 TA T 600 PASS RP11-24P14.1 Del intronic 1 9 MSH6 child 1_106561035_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d02ac716-328a-11e6-9539-3490a178171f 3_98050378_ACCTAATAGTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 98050378 ACCTAATAGT A 540 PASS RP11-325B23.2 Del intronic 9 1 FANCC child 3_98050378_ACCTAATAGTA_FANCC 9 9 1 C 0 - Microhomology-mediated d037a2ee-327e-11e6-85d6-b940d5957ca3 10_95530850_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 10 95530850 CA C 300 PASS LGI1 Del intronic 1 9 NEIL1 child 10_95530850_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated d050d5a8-3287-11e6-a21c-b819bce6aa09 X_132798475_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 132798475 TA T 540 PASS GPC3 Del intronic 1 6 MSH6 child X_132798475_TAT_MSH6 1 1 1 A 5 A Repeat-mediated d05b7740-3289-11e6-94b1-74090e01a414 17_28390551_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 28390551 AG A 300 PASS EFCAB5 Del intronic 1 5 MSH6 child 17_28390551_AGA_MSH6 1 1 1 G 4 G Repeat-mediated d0639026-3287-11e6-a5b3-3f1ebce6aa09 7_128937509_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 128937509 AT A 600 PASS AHCYL2 Del intronic 1 9 MSH6 child 7_128937509_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d066a1c0-329c-11e6-aca6-b39fcc638e3d 2_197710401_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 197710401 CA C 420 PASS PGAP1 Del intronic 1 7 MSH6 child 2_197710401_CAC_MSH6 1 1 1 A 6 A Repeat-mediated d07a1e0a-328b-11e6-bbaf-7c090e01a414 19_37390545_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 37390545 T TA 360 PASS ZNF829 Ins intronic 1 8 MSH6 child 19_37390545_TTA_MSH6 1 1 - - - - Ins d07dbed2-3283-11e6-b1ba-6def1da8ec0e 1_8927316_CAGAAGC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 8927316 CAGAAG C 300 PASS ENO1 Del splice_region 5 1 EXO1 child 1_8927316_CAGAAGC_EXO1 5 5 4 AGAA 0 - Microhomology-mediated d07f71b2-329e-11e6-bc2c-2a5e25c9da85 4_125933869_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 125933869 AT A 780 PASS - Del - 1 7 MSH6 child 4_125933869_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d0847278-328c-11e6-b537-8a5c694da5d2 13_44743714_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 13 44743714 AT A 840 PASS - Del - 1 1 POLM child 13_44743714_ATA_POLM 1 1 0 - 0 T None d08dcf86-328b-11e6-919e-92c36f39e758 2_23966804_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 23966804 TA T 540 PASS ATAD2B Del downstream 1 7 MSH6 child 2_23966804_TAT_MSH6 1 1 1 A 6 A Repeat-mediated d08fd4aa-3274-11e6-8607-751ad9b4fa2c 22_50913798_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 50913798 TC T 300 PASS SBF1 Del upstream 1 5 MSH6 child 22_50913798_TCT_MSH6 1 1 1 C 4 C Repeat-mediated d09fe4c4-3253-11e6-a4a7-35f212ae24cf 14_36405691_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 36405691 CT C 324 PASS - Del - 1 9 MSH6 child 14_36405691_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d0a02910-328b-11e6-aa75-90c36f39e758 13_36393318_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 36393318 GA G 480 PASS DCLK1 Del intronic 1 5 MSH6 child 13_36393318_GAG_MSH6 1 1 1 A 4 A Repeat-mediated d0a3f81e-3273-11e6-94a5-6c01ebb8d062 8_66107409_ATA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 8 66107409 AT A 540 PASS - Del - 1 8 NUDT1 child 8_66107409_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated d0a804a8-32a1-11e6-bc2c-2a5e25c9da85 4_119183688_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 119183688 G GA 840 PASS NDST3 Ins downstream 1 7 MSH6 child 4_119183688_GGA_MSH6 1 1 - - - - Ins d0ae66f0-3287-11e6-a5b3-3f1ebce6aa09 7_129061147_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 129061147 CT C 780 PASS AHCYL2 Del intronic 1 8 MSH6 child 7_129061147_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d0afee2c-328b-11e6-919e-92c36f39e758 2_23995362_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 23995362 TA T 480 PASS ATAD2B Del intronic 1 9 MSH6 child 2_23995362_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d0bf0990-3289-11e6-9996-bebd38e8a824 X_11496129_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 11496129 AT A 720 PASS ARHGAP6 Del intronic 1 8 NUDT1 parent X_11496129_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated d0c0509e-3292-11e6-b3a9-d5afe7d0bdd7 4_56918486_AAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 56918486 A AT 420 PASS - Ins - 1 5 FANCC child 4_56918486_AAT_FANCC 1 1 - - - - Ins d0c1cc4e-3292-11e6-9401-04ed6f39e758 3_196804371_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 196804371 TA T 420 PASS DLG1 Del intronic 1 8 MSH6 child 3_196804371_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d0c31460-326e-11e6-81de-443e72d7bc54 2_18966303_CTC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 2 18966303 CT C 720 PASS AC106053.1 Del intronic 1 8 POLM child 2_18966303_CTC_POLM 1 1 1 T 7 T Repeat-mediated d0d4c554-3280-11e6-b1f4-d855f7d33ce3 10_7079890_TAT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 10 7079890 TA T 557 PASS - Del - 1 4 NUDT1 child 10_7079890_TAT_NUDT1 1 1 1 A 3 A Repeat-mediated d0d9900c-3253-11e6-bf41-357a7872c165 10_17815342_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 17815342 AT A 286 PASS TMEM236 Del intronic 1 7 MSH6 child 10_17815342_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d0f5e62c-3275-11e6-aafd-c7dee9d19ece 2_92095540_TTA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 92095540 T TA 614 PASS - Ins - 1 6 CHK2 child 2_92095540_TTA_CHK2 1 1 - - - - Ins d0f7aba0-3299-11e6-a5cf-205325c9da85 11_246500_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 246500 CA C 780 PASS PSMD13 Del intronic 1 9 MSH6 child 11_246500_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d0fa3350-3282-11e6-bb60-c21d694da5d2 6_4058246_TTTGT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 6 4058246 TTTG T 300 PASS PRPF4B Del intronic 3 5 NEIL1 child 6_4058246_TTTGT_NEIL1 3 3 3 TTG 4 TTG Repeat-mediated d1137778-328e-11e6-9432-c0e56f39e758 5_17461075_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 17461075 GT G 360 PASS RP11-321E2.4 Del intronic 1 7 MSH6 child 5_17461075_GTG_MSH6 1 1 1 T 6 T Repeat-mediated d11a7758-328e-11e6-b9c4-751d0e01a414 5_174866582_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 174866582 GA G 300 PASS DRD1 Del downstream 1 9 MSH6 child 5_174866582_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d121753a-3270-11e6-b89d-b2d6b0dab373 4_87768709_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 87768709 AT A 420 PASS SLC10A6 Del intronic 1 9 MSH6 child 4_87768709_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d130daf8-3274-11e6-983a-1d8bcf737e61 7_86974072_CAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 7 86974072 CA C 360 PASS CROT Del upstream 1 7 POLB child 7_86974072_CAC_POLB 1 1 1 A 6 A Repeat-mediated d134a584-326f-11e6-819e-9d1aa20b69d5 11_84727098_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 84727098 TA T 600 PASS DLG2 Del intronic 1 9 EXO1 parent 11_84727098_TAT_EXO1 1 1 1 A 8 A Repeat-mediated d13cda74-3346-11e6-b0ff-c495e84777f6 10_91327012_AGAGCTGTACATGTCTTTGA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 91327012 AGAGCTGTACATGTCTTTG A 360 PASS - Del - 18 1 FANCC child 10_91327012_AGAGCTGTACATGTCTTTGA_FANCC 18 >=10 4 GAGC 0 - Microhomology-mediated d15982f8-3294-11e6-9ac5-d165046f68b1 7_36120543_CTCAGC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 7 36120543 CTCAG C 360 PASS - Del - 4 2 NEIL1 child 7_36120543_CTCAGC_NEIL1 4 4 4 TCAG 1 TCAG Repeat-mediated d16473ec-3277-11e6-acb5-bbf1bbe6aa09 7_117980619_AAT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 7 117980619 A AT 360 PASS - Ins - 1 7 POLB child 7_117980619_AAT_POLB 1 1 - - - - Ins d167212e-3280-11e6-a8de-13fc028949d4 12_93065850_CTC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 12 93065850 CT C 420 PASS - Del - 1 8 POLM child 12_93065850_CTC_POLM 1 1 1 T 7 T Repeat-mediated d16cd8a4-3284-11e6-b0da-c38569062303 12_133257827_CCG . HAP1_POLE_34 HAP1_parental_75_WT_DNA 12 133257827 C CG 900 PASS POLE Ins frameshift 1 0 POLE parent 12_133257827_CCG_POLE 1 1 - - - - Ins d16f7940-329f-11e6-aea7-956725c9da85 3_84820126_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 84820126 TA T 660 PASS LINC00971 Del intronic 1 5 MSH6 child 3_84820126_TAT_MSH6 1 1 1 A 4 A Repeat-mediated d171645c-327d-11e6-94ee-5ee4b41afd22 9_29618920_CTC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 9 29618920 CT C 480 PASS - Del - 1 8 POLM child 9_29618920_CTC_POLM 1 1 1 T 7 T Repeat-mediated d171f732-3322-11e6-a947-acb5cde16804 15_22391216_AAT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 15 22391216 A AT 540 PASS - Ins - 1 5 POLE child 15_22391216_AAT_POLE 1 1 - - - - Ins d1758c78-3325-11e6-aad6-fc2b9a696edf 9_134705602_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 134705602 TA T 300 PASS - Del - 1 9 EXO1 child 9_134705602_TAT_EXO1 1 1 1 A 8 A Repeat-mediated d1857e66-328b-11e6-8770-3e160e01a414 9_12613916_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 12613916 AT A 540 PASS - Del - 1 8 MSH6 child 9_12613916_ATA_MSH6 1 1 1 T 7 T Repeat-mediated d1890e6a-3276-11e6-8629-39703cfdbd24 4_35751902_CTGC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 4 35751902 CTG C 480 PASS - Del - 2 1 CHK2 child 4_35751902_CTGC_CHK2 2 2 0 - 0 - None d193c2c8-3290-11e6-9d24-ade56f39e758 7_147385211_CCTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 147385211 CCT C 540 PASS CNTNAP2 Del intronic 2 7 MSH6 child 7_147385211_CCTC_MSH6 2 2 2 CT 6 CT Repeat-mediated d1a186b4-326e-11e6-a202-899bcc638e3d 16_7957004_ATA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 16 7957004 AT A 540 PASS - Del - 1 3 NEIL1 child 16_7957004_ATA_NEIL1 1 1 1 T 2 T Repeat-mediated d1a19f66-328a-11e6-9c89-8d090e01a414 1_85898832_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 85898832 GT G 300 PASS DDAH1 Del intronic 1 5 MSH6 child 1_85898832_GTG_MSH6 1 1 1 T 4 T Repeat-mediated d1a98458-3274-11e6-94cc-1ec335cec73b 19_37290714_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 37290714 T TA 660 PASS - Ins - 1 7 MSH6 child 19_37290714_TTA_MSH6 1 1 - - - - Ins d1b6a9b4-3259-11e6-9d15-298312ae24cf X_100565775_GGAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 100565775 G GAT 300 PASS - Ins - 2 7 MSH6 child X_100565775_GGAT_MSH6 2 2 - - - - Ins d1cd594c-325a-11e6-a39a-dc8512ae24cf 8_51563742_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 51563742 A AT 300 PASS SNTG1 Ins intronic 1 7 MSH6 child 8_51563742_AAT_MSH6 1 1 - - - - Ins d1e18cc8-3322-11e6-917a-b666694da5d2 11_85204749_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 11 85204749 GA G 300 PASS DLG2 Del intronic 1 4 EXO1 child 11_85204749_GAG_EXO1 1 1 1 A 3 A Repeat-mediated d1ed6402-3256-11e6-885f-d1947872c165 4_48011859_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 48011859 CT C 420 PASS CNGA1 Del intronic 1 8 MSH6 child 4_48011859_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d1f5f448-328b-11e6-af7e-81c435cec73b 4_181418247_TTA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 4 181418247 T TA 641 PASS - Ins - 1 6 POLE child 4_181418247_TTA_POLE 1 1 - - - - Ins d1f8b5de-326d-11e6-acc7-e55219a91649 1_116609871_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 116609871 GT G 360 PASS SLC22A15 Del 3prime_UTR_variant 1 5 MSH6 child 1_116609871_GTG_MSH6 1 1 1 T 4 T Repeat-mediated d1f90b84-3271-11e6-8418-1c5942c4520d 3_174846715_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 174846715 AT A 300 PASS NAALADL2 Del intronic 1 9 MSH6 child 3_174846715_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d1fb07bc-3326-11e6-9eb4-dd99cf737e61 8_124018127_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 124018127 CT C 480 PASS - Del - 1 9 EXO1 child 8_124018127_CTC_EXO1 1 1 1 T 8 T Repeat-mediated d1fde888-329f-11e6-aea7-956725c9da85 3_84899617_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 84899617 AG A 660 PASS LINC00971 Del intronic 1 6 MSH6 child 3_84899617_AGA_MSH6 1 1 1 G 5 G Repeat-mediated d1fe41c2-3284-11e6-b093-c9c7b0dab373 2_36384864_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 36384864 TA T 660 PASS - Del - 1 8 MSH6 child 2_36384864_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d1fec77a-329b-11e6-ae71-0c5325c9da85 1_107269793_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 107269793 CA C 480 PASS - Del - 1 6 MSH6 child 1_107269793_CAC_MSH6 1 1 1 A 5 A Repeat-mediated d1ff3544-3272-11e6-b332-88ba7d6a9fc7 15_40208870_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 40208870 GA G 600 PASS GPR176 Del intronic 1 5 MSH6 child 15_40208870_GAG_MSH6 1 1 1 A 4 A Repeat-mediated d2033ab8-326d-11e6-845f-b7e0c125ee11 11_127689039_CAC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 11 127689039 CA C 300 PASS - Del - 1 6 POLM parent 11_127689039_CAC_POLM 1 1 1 A 5 A Repeat-mediated d2050656-3270-11e6-a777-d57d9cdf095d 10_135005525_AACA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 10 135005525 AAC A 600 PASS KNDC1 Del intronic 2 2 EXO1 parent 10_135005525_AACA_EXO1 2 2 2 AC 1 AC Repeat-mediated d2059478-3256-11e6-a39a-dc8512ae24cf 8_9252908_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 9252908 CA C 480 PASS RP11-115J16.1 Del intronic 1 8 MSH6 child 8_9252908_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d20e2654-3271-11e6-8418-1c5942c4520d 3_174858321_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 174858321 AC A 600 PASS NAALADL2 Del intronic 1 1 MSH6 child 3_174858321_ACA_MSH6 1 1 0 - 0 C None d211ac5a-328c-11e6-b4fe-93c36f39e758 12_77200318_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 77200318 AT A 360 PASS ZDHHC17 Del intronic 1 8 MSH6 child 12_77200318_ATA_MSH6 1 1 1 T 7 T Repeat-mediated d213f916-326d-11e6-b306-b5204b47a305 2_106087928_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 106087928 CT C 300 PASS - Del - 1 6 MSH6 child 2_106087928_CTC_MSH6 1 1 1 T 5 T Repeat-mediated d2144f70-3258-11e6-acc5-308412ae24cf 5_177392374_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 177392374 CA C 480 PASS - Del - 1 8 MSH6 child 5_177392374_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d2195caa-3284-11e6-8ebc-68f1bbe6aa09 18_50462899_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 50462899 AT A 540 PASS DCC Del intronic 1 6 MSH6 child 18_50462899_ATA_MSH6 1 1 1 T 5 T Repeat-mediated d2213f44-328c-11e6-b8e6-91c36f39e758 11_84586788_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 84586788 CT C 600 PASS DLG2 Del intronic 1 9 MSH6 child 11_84586788_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d229ffec-328e-11e6-b960-ae6919a91649 15_44669988_GTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 15 44669988 GT G 360 PASS CASC4 Del intronic 1 1 NEIL1 child 15_44669988_GTG_NEIL1 1 1 0 - 0 T None d22b4ea2-3323-11e6-b21a-c2d124864c47 9_28306271_ATGAAGAAGGTGAAAAGGAAAGGAAAGGAAAG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 9 28306271 ATGAAGAAGGTGAAAAGGA AAGGAAAGGAAAG 284 PASS LINGO2 Complex intronic 18 0 POLE child 9_28306271_ATGAAGAAGGTGAAAAGGAAAGGAAAGGAAAG_POLE 6 6 - - - - Complex d2339544-3274-11e6-b332-88ba7d6a9fc7 15_101429218_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 101429218 AT A 300 PASS ALDH1A3 Del intronic 1 6 MSH6 child 15_101429218_ATA_MSH6 1 1 1 T 5 T Repeat-mediated d236fad2-3291-11e6-8d00-b1b0e7d0bdd7 5_148663513_AAACTTGGTCA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 148663513 AAACTTGGTC A 360 PASS AFAP1L1 Del intronic 9 1 FANCC child 5_148663513_AAACTTGGTCA_FANCC 9 9 1 A 0 - Microhomology-mediated d249f8fe-328b-11e6-bd95-63cc977b3f23 1_26543760_TACT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 1 26543760 TAC T 900 PASS - Del - 2 1 NEIL1 child 1_26543760_TACT_NEIL1 2 2 0 - 0 - None d24c8ce4-3287-11e6-b0bc-c7a46f39e758 5_153871606_GCAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 5 153871606 GCA G 300 PASS - Del - 2 3 EXO1 child 5_153871606_GCAG_EXO1 2 2 2 CA 2 CA Repeat-mediated d24cf2bc-3299-11e6-b74d-b59fcc638e3d 18_471947_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 471947 TA T 780 PASS COLEC12 Del intronic 1 8 MSH6 child 18_471947_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d2545eb2-328f-11e6-850b-ec0b9c6d3b88 4_33187811_GTCG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 33187811 GTC G 360 PASS - Del - 2 1 POLB child 4_33187811_GTCG_POLB 2 2 0 - 0 - None d254d848-3293-11e6-b77d-2eef6f39e758 6_41746363_GGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 41746363 G GC 480 PASS FRS3 Ins intronic 1 7 MSH6 child 6_41746363_GGC_MSH6 1 1 - - - - Ins d2621136-3255-11e6-8ebc-3ef212ae24cf 15_94379424_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 94379424 GA G 540 PASS CTD-3049M7.1 Del intronic 1 6 MSH6 child 15_94379424_GAG_MSH6 1 1 1 A 5 A Repeat-mediated d2660866-3293-11e6-9d97-efe56f39e758 4_184570274_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 184570274 G GA 420 PASS RWDD4 Ins intronic 1 8 MSH6 child 4_184570274_GGA_MSH6 1 1 - - - - Ins d267ca36-32a0-11e6-bc66-17b4cc638e3d 8_136200501_GACG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 136200501 GAC G 540 PASS - Del - 2 6 MSH6 child 8_136200501_GACG_MSH6 2 2 2 AC 5 AC Repeat-mediated d26a0f5c-32a1-11e6-91d0-016425c9da85 7_99069481_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 99069481 C CA 600 PASS ZNF789 Ins upstream 1 9 MSH6 child 7_99069481_CCA_MSH6 1 1 - - - - Ins d26ef33e-329a-11e6-b74d-b59fcc638e3d 18_63990405_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 63990405 AT A 480 PASS - Del - 1 6 MSH6 child 18_63990405_ATA_MSH6 1 1 1 T 5 T Repeat-mediated d280d572-3254-11e6-a304-347a7872c165 1_80559145_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 80559145 CT C 600 PASS - Del - 1 9 MSH6 child 1_80559145_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d2849c8e-3326-11e6-868e-d16670cce0de 6_7589349_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 6 7589349 TA T 480 PASS DSP Del downstream 1 9 EXO1 child 6_7589349_TAT_EXO1 1 1 1 A 8 A Repeat-mediated d28e1fea-3284-11e6-a032-41f0137bb207 1_231308410_TAT . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 1 231308410 TA T 480 PASS TRIM67 Del intronic 1 7 NEIL1 parent 1_231308410_TAT_NEIL1 1 1 1 A 6 A Repeat-mediated d290cb28-328e-11e6-8f31-bfe16f39e758 9_79744647_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 79744647 CT C 420 PASS - Del - 1 6 MSH6 child 9_79744647_CTC_MSH6 1 1 1 T 5 T Repeat-mediated d29220be-3274-11e6-bc97-1f91a20b69d5 10_21666877_CTC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 10 21666877 CT C 600 PASS RP11-275N1.1 Del upstream 1 9 POLM child 10_21666877_CTC_POLM 1 1 1 T 8 T Repeat-mediated d29ccc5e-32a0-11e6-aea7-956725c9da85 3_158864109_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 158864109 TA T 780 PASS IQCJ-SCHIP1 Del intronic 1 9 MSH6 child 3_158864109_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d2a1dbde-3257-11e6-8cd9-139b7872c165 3_20690517_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 20690517 TA T 300 PASS - Del - 1 5 MSH6 child 3_20690517_TAT_MSH6 1 1 1 A 4 A Repeat-mediated d2acd00e-3282-11e6-a79b-fd3eee3c4f5d 4_12456845_CAC . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 4 12456845 CA C 540 PASS - Del - 1 5 POLB child 4_12456845_CAC_POLB 1 1 1 A 4 A Repeat-mediated d2b2b8a2-328c-11e6-8e48-791e0e01a414 8_22155058_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 22155058 TA T 420 PASS PIWIL2 Del intronic 1 9 MSH6 child 8_22155058_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d2b2c870-3272-11e6-8f33-a6d9cde16804 11_40433351_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 40433351 TA T 540 PASS LRRC4C Del intronic 1 5 MSH6 child 11_40433351_TAT_MSH6 1 1 1 A 4 A Repeat-mediated d2b981fa-329b-11e6-ae71-0c5325c9da85 1_107604108_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 107604108 GA G 360 PASS PRMT6 Del downstream 1 7 MSH6 child 1_107604108_GAG_MSH6 1 1 1 A 6 A Repeat-mediated d2bc0e00-3284-11e6-8ebc-68f1bbe6aa09 18_50775614_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 50775614 GT G 540 PASS DCC Del intronic 1 8 MSH6 child 18_50775614_GTG_MSH6 1 1 1 T 7 T Repeat-mediated d2bcb74a-3272-11e6-9e18-3a69671699ea 10_29377561_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 29377561 TA T 420 PASS - Del - 1 5 MSH6 child 10_29377561_TAT_MSH6 1 1 1 A 4 A Repeat-mediated d2bd34fa-328a-11e6-af7e-81c435cec73b 4_107961903_TTA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 4 107961903 T TA 540 PASS DKK2 Ins upstream 1 7 POLE child 4_107961903_TTA_POLE 1 1 - - - - Ins d2c80908-3270-11e6-b5b8-e0c24a47a305 X_89772296_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 89772296 TA T 272 PASS - Del - 1 7 MSH6 child X_89772296_TAT_MSH6 1 1 1 A 6 A Repeat-mediated d2d0cc8c-3293-11e6-8d91-0b8730158702 1_211293167_ATA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 1 211293167 AT A 420 PASS KCNH1 Del intronic 1 6 NUDT1 child 1_211293167_ATA_NUDT1 1 1 1 T 5 T Repeat-mediated d2db51f4-328c-11e6-b805-77090e01a414 2_233646920_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 233646920 AT A 300 PASS GIGYF2 Del intronic 1 9 MSH6 child 2_233646920_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d2f0de7c-329e-11e6-94ca-0aaecc638e3d X_71042535_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 71042535 AG A 420 PASS - Del - 1 6 MSH6 child X_71042535_AGA_MSH6 1 1 1 G 5 G Repeat-mediated d302700a-3281-11e6-88ca-c78169062303 16_87761798_GAAGAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 16 87761798 GAAGA G 600 PASS KLHDC4 Del intronic 4 2 FANCC child 16_87761798_GAAGAG_FANCC 4 4 4 AAGA 1 AAGA Repeat-mediated d304856c-3271-11e6-b89d-b2d6b0dab373 4_157546401_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 157546401 GA G 300 PASS - Del - 1 8 MSH6 child 4_157546401_GAG_MSH6 1 1 1 A 7 A Repeat-mediated d3048cf6-3253-11e6-9f9d-2c7a7872c165 12_18468333_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 18468333 GA G 360 PASS PIK3C2G Del intronic 1 9 MSH6 child 12_18468333_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d3065294-3275-11e6-8c34-46e27872c165 5_32080117_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 32080117 AT A 720 PASS PDZD2 Del intronic 1 7 MSH6 child 5_32080117_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d30b7226-328c-11e6-9777-62d8191589db 5_61670273_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 61670273 AT A 360 PASS KIF2A Del intronic 1 7 FANCC child 5_61670273_ATA_FANCC 1 1 1 T 6 T Repeat-mediated d30f95a6-328f-11e6-b6a6-1f1e0e01a414 4_4457990_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 4457990 C CA 480 PASS STX18 Ins intronic 1 7 MSH6 child 4_4457990_CCA_MSH6 1 1 - - - - Ins d31346c8-3286-11e6-b84c-a2a0fc1f1540 1_165323142_GAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 165323142 GA G 420 PASS LMX1A Del intronic 1 7 FANCC child 1_165323142_GAG_FANCC 1 1 1 A 6 A Repeat-mediated d32583c2-3288-11e6-8f40-4aa538e8a824 17_16611891_AAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 17 16611891 A AT 722 PASS CCDC144A Ins intronic 1 8 NUDT1 parent 17_16611891_AAT_NUDT1 1 1 - - - - Ins d327f508-3256-11e6-acc5-308412ae24cf 5_32047144_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 32047144 CA C 300 PASS PDZD2 Del intronic 1 7 MSH6 child 5_32047144_CAC_MSH6 1 1 1 A 6 A Repeat-mediated d3305150-3272-11e6-81c8-19f506e9a829 2_141349752_TAATATAAAATTTTATTAGAACAGT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 141349752 TAATATAAAATTTTATTAGAACAG T 300 PASS LRP1B Del intronic 23 1 FANCC child 2_141349752_TAATATAAAATTTTATTAGAACAGT_FANCC 23 >=10 2 AA 0 - Microhomology-mediated d332a7c4-3273-11e6-bfb2-2749c225ee11 12_98858520_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 98858520 AT A 960 PASS - Del - 1 5 MSH6 child 12_98858520_ATA_MSH6 1 1 1 T 4 T Repeat-mediated d3399a7e-3274-11e6-af88-fed9cde16804 3_194433523_GAG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 3 194433523 GA G 480 PASS AC090505.6 Del intronic 1 7 NEIL1 child 3_194433523_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated d341699e-328c-11e6-b43c-7ec36f39e758 16_75958446_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 75958446 GA G 540 PASS - Del - 1 6 MSH6 child 16_75958446_GAG_MSH6 1 1 1 A 5 A Repeat-mediated d34255cc-3325-11e6-aad6-fc2b9a696edf 9_135111110_TGT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 135111110 TG T 960 PASS NTNG2 Del intronic 1 7 EXO1 child 9_135111110_TGT_EXO1 1 1 1 G 6 G Repeat-mediated d3473bd6-328b-11e6-b4fe-93c36f39e758 12_16676506_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 16676506 TA T 720 PASS - Del - 1 8 MSH6 child 12_16676506_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d34919b8-326f-11e6-be3d-925130158702 1_45636263_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 1 45636263 AT A 600 PASS ZSWIM5 Del intronic 1 7 POLB child 1_45636263_ATA_POLB 1 1 1 T 6 T Repeat-mediated d34b3daa-3270-11e6-9d19-c216987b3f23 21_40321463_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 40321463 GA G 360 PASS AF064858.6 Del intronic 1 8 MSH6 child 21_40321463_GAG_MSH6 1 1 1 A 7 A Repeat-mediated d34ccb36-328c-11e6-8fa6-65cc977b3f23 15_73170802_CTTTTAATTGACATTTTGTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 15 73170802 CTTTTAATTGACATTTTGT C 600 PASS - Del - 18 1 NEIL1 child 15_73170802_CTTTTAATTGACATTTTGTC_NEIL1 18 >=10 17 TTTTAATTGACATTTTG 0 - Microhomology-mediated d34f347c-328a-11e6-a100-84090e01a414 18_21806861_TTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 21806861 T TC 600 PASS OSBPL1A Ins intronic 1 3 MSH6 child 18_21806861_TTC_MSH6 1 1 - - - - Ins d35068c4-3253-11e6-9f9d-2c7a7872c165 12_18713071_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 18713071 AT A 420 PASS PIK3C2G Del intronic 1 9 MSH6 child 12_18713071_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d3527156-3289-11e6-a94a-059612ae24cf 19_32663184_GTG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 19 32663184 GT G 420 PASS - Del - 1 5 CHK2 child 19_32663184_GTG_CHK2 1 1 1 T 4 T Repeat-mediated d355fb9c-334b-11e6-9f94-b3873cfdbd24 6_72409101_CTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 6 72409101 CT C 360 PASS - Del - 1 9 FANCC child 6_72409101_CTC_FANCC 1 1 1 T 8 T Repeat-mediated d3571b76-328d-11e6-ae53-96c36f39e758 15_99624677_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 99624677 CA C 900 PASS - Del - 1 7 MSH6 child 15_99624677_CAC_MSH6 1 1 1 A 6 A Repeat-mediated d35f3044-328e-11e6-b9c4-751d0e01a414 5_175437456_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 175437456 AG A 300 PASS - Del - 1 5 MSH6 child 5_175437456_AGA_MSH6 1 1 1 G 4 G Repeat-mediated d3601af8-3253-11e6-8a2a-3af212ae24cf 16_17921872_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 17921872 GA G 780 PASS CTD-3229J4.1 Del downstream 1 8 MSH6 child 16_17921872_GAG_MSH6 1 1 1 A 7 A Repeat-mediated d36029b6-328b-11e6-b805-77090e01a414 2_172013752_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 172013752 CA C 300 PASS TLK1 Del intronic 1 4 MSH6 child 2_172013752_CAC_MSH6 1 1 1 A 3 A Repeat-mediated d36208f4-3258-11e6-8cd9-139b7872c165 3_103268831_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 103268831 GA G 600 PASS - Del - 1 7 MSH6 child 3_103268831_GAG_MSH6 1 1 1 A 6 A Repeat-mediated d36b4436-328b-11e6-bd1b-5fcc977b3f23 11_28949888_CTC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 11 28949888 CT C 360 PASS RP11-115J23.1 Del intronic 1 7 NEIL1 child 11_28949888_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated d3758096-3258-11e6-8340-da9012ae24cf 6_22825186_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 22825186 CA C 420 PASS RP1-209A6.1 Del intronic 1 5 MSH6 child 6_22825186_CAC_MSH6 1 1 1 A 4 A Repeat-mediated d37a2ad4-3270-11e6-a539-0e5542c4520d 7_134669275_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 134669275 CT C 300 PASS AGBL3 Del upstream 1 8 MSH6 child 7_134669275_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d385c1a4-3280-11e6-b263-76d64dc77248 8_139391622_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 139391622 AT A 480 PASS FAM135B Del intronic 1 9 NUDT1 child 8_139391622_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated d3868e72-3280-11e6-86cf-8f288e4678dd 10_31524781_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 31524781 CA C 420 PASS RP11-192P3.4 Del intronic 1 8 FANCC child 10_31524781_CAC_FANCC 1 1 1 A 7 A Repeat-mediated d386e572-328d-11e6-9e01-8e5c694da5d2 12_102650270_CTGC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 12 102650270 CTG C 660 PASS - Del - 2 1 POLM child 12_102650270_CTGC_POLM 2 2 1 T 0 - Microhomology-mediated d38a55d8-3349-11e6-be18-768ca20b69d5 3_62321845_GTGCATATTTATTTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 62321845 GTGCATATTTATTT G 840 PASS C3orf14 Del 3prime_UTR_variant 13 1 FANCC child 3_62321845_GTGCATATTTATTTG_FANCC 13 >=10 2 TG 0 - Microhomology-mediated d391ce26-3281-11e6-8ed4-2098faf1a024 20_36703409_CTGC . HAP1_POLB_35 HAP1_parental_75_WT_DNA 20 36703409 CTG C 480 PASS RPRD1B Del intronic 2 2 POLB parent 20_36703409_CTGC_POLB 2 2 2 TG 1 TG Repeat-mediated d393cd4e-3285-11e6-9955-19979cdf095d 8_89378226_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 89378226 AT A 600 PASS - Del - 1 9 POLE child 8_89378226_ATA_POLE 1 1 1 T 8 T Repeat-mediated d39a18be-3291-11e6-8e48-791e0e01a414 8_143706087_AAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 143706087 A AC 540 PASS - Ins - 1 3 MSH6 child 8_143706087_AAC_MSH6 1 1 - - - - Ins d3a81b12-32a0-11e6-aea7-956725c9da85 3_159416428_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 159416428 AT A 540 PASS IQCJ-SCHIP1 Del intronic 1 7 MSH6 child 3_159416428_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d3ae51ac-326f-11e6-b89d-b2d6b0dab373 4_22750410_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 22750410 CT C 300 PASS - Del - 1 7 MSH6 child 4_22750410_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d3bf5d16-3329-11e6-9981-3a2d5e975b79 20_41318234_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 20 41318234 GA G 900 PASS PTPRT Del intronic 1 1 CHK2 parent 20_41318234_GAG_CHK2 1 1 0 - 0 A None d3c09a54-3271-11e6-9dfc-541498ba1142 8_35373283_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 8 35373283 AT A 780 PASS UNC5D Del intronic 1 6 EXO1 parent 8_35373283_ATA_EXO1 1 1 1 T 5 T Repeat-mediated d3dca744-3276-11e6-998e-ba48fa52e078 8_82480813_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 82480813 CA C 660 PASS - Del - 1 7 MSH6 child 8_82480813_CAC_MSH6 1 1 1 A 6 A Repeat-mediated d3dde92c-3291-11e6-b88b-bca9fa52e078 17_20004740_CTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 17 20004740 CT C 480 PASS SPECC1 Del intronic 1 7 NUDT1 child 17_20004740_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated d3e8e1ac-326d-11e6-b2ac-b6204b47a305 17_74087711_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 74087711 TG T 360 PASS EXOC7 Del intronic 1 6 MSH6 child 17_74087711_TGT_MSH6 1 1 1 G 5 G Repeat-mediated d3eb1794-3284-11e6-be43-0a6ea2c71c31 10_35074915_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 35074915 CA C 660 PASS PARD3 Del intronic 1 8 MSH6 child 10_35074915_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d3ec79ae-327a-11e6-92d2-c259c225ee11 3_125707417_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 125707417 T TA 360 PASS - Ins - 1 7 MSH6 child 3_125707417_TTA_MSH6 1 1 - - - - Ins d3f512be-326e-11e6-a202-899bcc638e3d 16_8550249_CAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 16 8550249 CA C 300 PASS - Del - 1 8 NEIL1 child 16_8550249_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated d404d154-3278-11e6-8de8-fc8b5d753391 10_10420505_GAG . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 10 10420505 GA G 480 PASS - Del - 1 9 FANCC parent 10_10420505_GAG_FANCC 1 1 1 A 8 A Repeat-mediated d408aa5a-3277-11e6-a391-f6d67d6a9fc7 6_23521934_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 23521934 CA C 480 PASS - Del - 1 9 MSH6 child 6_23521934_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d40abba2-327b-11e6-a391-f6d67d6a9fc7 6_122523473_CCACAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 122523473 C CACAT 360 PASS - Ins - 4 0 MSH6 child 6_122523473_CCACAT_MSH6 4 4 - - - - Ins d4103f5c-326f-11e6-b89d-b2d6b0dab373 4_22913323_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 22913323 CT C 300 PASS - Del - 1 7 MSH6 child 4_22913323_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d4110994-3280-11e6-8a95-4ae6b41afd22 X_32453518_AAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA X 32453518 A AT 420 PASS DMD Ins intronic 1 2 POLM child X_32453518_AAT_POLM 1 1 - - - - Ins d4148850-3279-11e6-be3d-b594a20b69d5 4_187829652_GGT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 4 187829652 G GT 300 PASS - Ins - 1 6 EXO1 child 4_187829652_GGT_EXO1 1 1 - - - - Ins d415c044-3323-11e6-8a20-9a0d75253f64 9_103671776_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 9 103671776 CT C 480 PASS - Del - 1 3 CHK2 child 9_103671776_CTC_CHK2 1 1 1 T 2 T Repeat-mediated d41aa0b2-328f-11e6-b1b9-2968694da5d2 8_28956810_CAC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 8 28956810 CA C 600 PASS KIF13B Del intronic 1 9 POLM child 8_28956810_CAC_POLM 1 1 1 A 8 A Repeat-mediated d41d254e-328f-11e6-9d24-ade56f39e758 7_80963166_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 80963166 GA G 540 PASS - Del - 1 5 MSH6 child 7_80963166_GAG_MSH6 1 1 1 A 4 A Repeat-mediated d421bfea-3272-11e6-9210-65fa620e6611 5_65204859_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 65204859 TA T 420 PASS - Del - 1 9 EXO1 parent 5_65204859_TAT_EXO1 1 1 1 A 8 A Repeat-mediated d42e9f00-3275-11e6-8607-751ad9b4fa2c 22_44668796_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 44668796 C CA 480 PASS KIAA1644 Ins intronic 1 3 MSH6 child 22_44668796_CCA_MSH6 1 1 - - - - Ins d44c2112-326e-11e6-9d68-ac9acab49462 15_91819056_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 91819056 CA C 540 PASS SV2B Del intronic 1 8 MSH6 child 15_91819056_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d4532d7e-329e-11e6-aea7-956725c9da85 3_23082012_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 23082012 AT A 300 PASS - Del - 1 8 MSH6 child 3_23082012_ATA_MSH6 1 1 1 T 7 T Repeat-mediated d4553e2e-3254-11e6-9f9d-2c7a7872c165 12_87720374_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 87720374 GT G 660 PASS - Del - 1 9 MSH6 child 12_87720374_GTG_MSH6 1 1 1 T 8 T Repeat-mediated d4590824-3259-11e6-8cd9-139b7872c165 3_178387149_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 178387149 CA C 420 PASS KCNMB2 Del intronic 1 8 MSH6 child 3_178387149_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d4842aa2-3346-11e6-994a-5ae3e9d19ece 11_103641650_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 11 103641650 CA C 540 PASS RP11-563P16.1 Del intronic 1 9 FANCC child 11_103641650_CAC_FANCC 1 1 1 A 8 A Repeat-mediated d4884e5e-328b-11e6-8106-81c36f39e758 19_12344580_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 12344580 TA T 420 PASS CTD-2666L21.1 Del intronic 1 6 MSH6 child 19_12344580_TAT_MSH6 1 1 1 A 5 A Repeat-mediated d49a176a-3272-11e6-9e18-3a69671699ea 10_29726883_GTCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 29726883 GTC G 720 PASS - Del - 2 7 MSH6 child 10_29726883_GTCG_MSH6 2 2 2 TC 6 TC Repeat-mediated d49a8cf0-3271-11e6-b89d-b2d6b0dab373 4_158158987_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 158158987 GT G 480 PASS GRIA2 Del intronic 1 7 MSH6 child 4_158158987_GTG_MSH6 1 1 1 T 6 T Repeat-mediated d49d762a-328c-11e6-8e48-791e0e01a414 8_22397691_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 22397691 CT C 420 PASS PPP3CC Del intronic 1 8 MSH6 child 8_22397691_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d49e7e4a-3254-11e6-b4d0-327a7872c165 11_85927529_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 85927529 GA G 600 PASS - Del - 1 9 MSH6 child 11_85927529_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d49f8efc-3254-11e6-8f56-7d832aaffa45 13_61186169_TCCT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 13 61186169 TCC T 480 PASS RNA5SP31 Del upstream 2 3 POLM child 13_61186169_TCCT_POLM 2 2 1 C 0 - Microhomology-mediated d4a67712-3281-11e6-9c55-78e41da8ec0e 19_51498836_GTG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 19 51498836 GT G 300 PASS KLK9 Del downstream 1 4 EXO1 child 19_51498836_GTG_EXO1 1 1 1 T 3 T Repeat-mediated d4aca306-3292-11e6-92cf-bf2a0e01a414 6_75203087_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 75203087 C CT 360 PASS RP11-554D15.1 Ins intronic 1 8 MSH6 child 6_75203087_CCT_MSH6 1 1 - - - - Ins d4b1d412-3273-11e6-abaf-4642cab49462 6_155143693_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 155143693 TA T 360 PASS SCAF8 Del intronic 1 9 MSH6 child 6_155143693_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d4b2881a-328e-11e6-bcba-4aab4430f757 2_226463176_TAT . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 2 226463176 TA T 780 PASS NYAP2 Del intronic 1 6 POLE child 2_226463176_TAT_POLE 1 1 1 A 5 A Repeat-mediated d4b59b52-329a-11e6-aca6-b39fcc638e3d 2_69155780_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 69155780 AC A 720 PASS - Del - 1 6 MSH6 child 2_69155780_ACA_MSH6 1 1 1 C 5 C Repeat-mediated d4b60e6e-329c-11e6-aca6-b39fcc638e3d 2_198485328_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 198485328 AT A 900 PASS RFTN2 Del intronic 1 7 MSH6 child 2_198485328_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d4bee3d4-327b-11e6-9adb-fb799ecd0b3a 13_61186169_TCCT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 13 61186169 TCC T 360 PASS RNA5SP31 Del upstream 2 3 POLM child 13_61186169_TCCT_POLM 2 2 1 C 0 - Microhomology-mediated d4d272a0-328a-11e6-9c89-8d090e01a414 1_86347435_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 86347435 CT C 300 PASS COL24A1 Del intronic 1 7 MSH6 child 1_86347435_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d4d42f42-3275-11e6-b48f-cc371daa6045 9_18594150_ATA . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 9 18594150 AT A 480 PASS ADAMTSL1 Del intronic 1 9 EXO1 child 9_18594150_ATA_EXO1 1 1 1 T 8 T Repeat-mediated d4d95b5a-328b-11e6-b805-77090e01a414 2_172295247_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 172295247 CT C 420 PASS DCAF17 Del intronic 1 9 MSH6 child 2_172295247_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d4de806e-3252-11e6-bb07-5705ee3c4f5d 11_104562947_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 11 104562947 CA C 360 PASS - Del - 1 9 POLB child 11_104562947_CAC_POLB 1 1 1 A 8 A Repeat-mediated d4df13d2-328c-11e6-b8e6-91c36f39e758 11_85326801_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 85326801 GT G 360 PASS DLG2 Del intronic 1 8 MSH6 child 11_85326801_GTG_MSH6 1 1 1 T 7 T Repeat-mediated d4e18e00-326e-11e6-9fba-41ebd8b4fa2c 11_81737973_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 81737973 CT C 300 PASS RP11-179A16.1 Del intronic 1 4 MSH6 child 11_81737973_CTC_MSH6 1 1 1 T 3 T Repeat-mediated d4ea3228-328f-11e6-b52f-4eeb6f39e758 22_25277558_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 25277558 CA C 420 PASS SGSM1 Del intronic 1 8 MSH6 child 22_25277558_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d4eb9c98-3290-11e6-9230-fb250e01a414 3_190749199_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 190749199 CA C 420 PASS - Del - 1 8 MSH6 child 3_190749199_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d4ecb8ea-3299-11e6-8de1-2d9afaf1a024 7_125284531_ACTA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 125284531 ACT A 600 PASS - Del - 2 2 CHK2 child 7_125284531_ACTA_CHK2 2 2 2 CT 1 CT Repeat-mediated d4ee566c-328c-11e6-bec1-ca1d0e01a414 X_35988480_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 35988480 AT A 406 PASS CXorf22 Del intronic 1 9 MSH6 child X_35988480_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d4ef1a16-3291-11e6-9070-b1a39b6d3b88 6_62319629_GAAG . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 6 62319629 GAA G 540 PASS - Del - 2 2 POLB child 6_62319629_GAAG_POLB 2 2 0 - 0 - None d4f53fb8-32a0-11e6-bc66-17b4cc638e3d 8_136901889_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 136901889 AT A 360 PASS - Del - 1 9 MSH6 child 8_136901889_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d4ff3d56-328c-11e6-8770-3e160e01a414 9_94485254_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 94485254 CA C 360 PASS ROR2 Del 3prime_UTR_variant 1 7 MSH6 child 9_94485254_CAC_MSH6 1 1 1 A 6 A Repeat-mediated d50a3da2-3299-11e6-bda6-065325c9da85 13_20214256_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 20214256 GA G 600 PASS MPHOSPH8 Del intronic 1 9 MSH6 child 13_20214256_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d510615a-3280-11e6-9a3a-b76f2aaffa45 16_13926776_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 16 13926776 AT A 600 PASS - Del - 1 8 POLE child 16_13926776_ATA_POLE 1 1 1 T 7 T Repeat-mediated d51466e8-3257-11e6-9d15-298312ae24cf X_72458559_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 72458559 CT C 360 PASS - Del - 1 9 MSH6 child X_72458559_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d51e1d5a-327f-11e6-ab3d-fefad0959d89 X_121639274_ATA . HAP1_POLB_35 HAP1_parental_75_WT_DNA X 121639274 AT A 420 PASS - Del - 1 6 POLB parent X_121639274_ATA_POLB 1 1 1 T 5 T Repeat-mediated d52dfb56-3254-11e6-9f9d-2c7a7872c165 12_88021331_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 88021331 CT C 600 PASS - Del - 1 7 MSH6 child 12_88021331_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d54a032a-3252-11e6-b45a-b9e612ae24cf 17_65882484_CTC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 17 65882484 CT C 840 PASS BPTF Del intronic 1 8 POLB child 17_65882484_CTC_POLB 1 1 1 T 7 T Repeat-mediated d54fcece-327d-11e6-831c-60fe684da5d2 12_1542062_CAC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 12 1542062 CA C 300 PASS ERC1 Del intronic 1 8 NEIL1 child 12_1542062_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated d5524302-3282-11e6-a62e-ba6f2aaffa45 10_38671756_CCT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 10 38671756 C CT 509 PASS - Ins - 1 8 POLE child 10_38671756_CCT_POLE 1 1 - - - - Ins d552ade4-3280-11e6-971a-ac2236fc2f7d 19_5275501_AATCCTCCCACCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGAAGGCCATCACATCTGTAACCCCAGCACTTTGGGAGGCTGAGGCCGGAGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAGGAAACAAACATTAGCCAGACATAGTGGTGGGCACCTGTAATCCCAACTACTTGGCAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCCAAGATCATGGCACCACACTTCAACCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAACAAAAACAAAAACAAAAACCAGCCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 19 5275501 AATCCTCCCACCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGAAGGCCATCACATCTGTAACCCCAGCACTTTGGGAGGCTGAGGCCGGAGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAGGAAACAAACATTAGCCAGACATAGTGGTGGGCACCTGTAATCCCAACTACTTGGCAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCCAAGATCATGGCACCACACTTCAACCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAACAAAAACAAAAACAAAAACCAGCCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTG A 417 PASS PTPRS Del intronic 396 1 NUDT1 child 19_5275501_AATCCTCCCACCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGAAGGCCATCACATCTGTAACCCCAGCACTTTGGGAGGCTGAGGCCGGAGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAGGAAACAAACATTAGCCAGACATAGTGGTGGGCACCTGTAATCCCAACTACTTGGCAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCCAAGATCATGGCACCACACTTCAACCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAACAAAAACAAAAACAAAAACCAGCCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGA_NUDT1 396 >=10 29 ATCCTCCCACCTTGGCCTCCCAAGTAGCT 0 - Microhomology-mediated d555a6fa-3278-11e6-9fd1-e163e7d0bdd7 8_106278823_TTC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 8 106278823 T TC 300 PASS - Ins - 1 2 POLB child 8_106278823_TTC_POLB 1 1 - - - - Ins d55e1cd8-328a-11e6-a8ac-a28ea2c71c31 3_129932274_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 129932274 G GT 300 PASS - Ins - 1 7 MSH6 child 3_129932274_GGT_MSH6 1 1 - - - - Ins d56350cc-328a-11e6-a42b-8cc430158702 18_45444976_GAAG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 18 45444976 GAA G 300 PASS SMAD2 Del intronic 2 4 POLM child 18_45444976_GAAG_POLM 2 2 2 AA 2 A Repeat-mediated d566744c-331f-11e6-a0b4-eb1c51c54cdd 16_15587447_CCTTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 16 15587447 CCTT C 480 PASS C16orf45 Del intronic 3 2 CHK2 parent 16_15587447_CCTTC_CHK2 3 3 3 CTT 1 CTT Repeat-mediated d568e7fa-3323-11e6-8ccd-5c056323ba5a 2_153944141_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 153944141 AT A 720 PASS - Del - 1 8 EXO1 child 2_153944141_ATA_EXO1 1 1 1 T 7 T Repeat-mediated d56a055a-3273-11e6-b332-88ba7d6a9fc7 15_72903112_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 72903112 CA C 440 PASS RP11-1006G14.2 Del intronic 1 9 MSH6 child 15_72903112_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d5734172-3270-11e6-bfba-13bf4a47a305 9_92861676_CCCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 92861676 C CCA 420 PASS - Ins - 2 4 MSH6 child 9_92861676_CCCA_MSH6 2 2 - - - - Ins d573925e-326f-11e6-b89d-b2d6b0dab373 4_23574866_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 23574866 AG A 300 PASS - Del - 1 5 MSH6 child 4_23574866_AGA_MSH6 1 1 1 G 4 G Repeat-mediated d576f9e2-328f-11e6-bb1e-70e16f39e758 X_119575704_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 119575704 AG A 720 PASS LAMP2 Del frameshift 1 6 MSH6 child X_119575704_AGA_MSH6 1 1 1 G 5 G Repeat-mediated d57bdeec-3296-11e6-80cc-ecf997ba1142 13_62516720_GTG . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 13 62516720 GT G 600 PASS - Del - 1 1 CHK2 child 13_62516720_GTG_CHK2 1 1 0 - 0 T None d57c0a78-3284-11e6-8ebc-68f1bbe6aa09 18_51866348_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 51866348 TA T 300 PASS STARD6 Del intronic 1 8 MSH6 child 18_51866348_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d5919c60-329f-11e6-b696-dd6225c9da85 5_178455469_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 178455469 GT G 720 PASS ZNF879 Del intronic 1 9 MSH6 child 5_178455469_GTG_MSH6 1 1 1 T 8 T Repeat-mediated d59777ea-3270-11e6-8fc7-e8702aaffa45 9_38520474_CTGC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 9 38520474 CTG C 780 PASS - Del - 2 2 POLM child 9_38520474_CTGC_POLM 2 2 2 TG 1 TG Repeat-mediated d5990414-329a-11e6-a0ea-135325c9da85 15_63997244_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 63997244 AT A 660 PASS HERC1 Del intronic 1 9 MSH6 child 15_63997244_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d59dd296-3254-11e6-89d3-d29498816cf3 2_143683994_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 143683994 TA T 414 PASS KYNU Del intronic 1 9 MSH6 child 2_143683994_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d5a720e2-328d-11e6-ae53-96c36f39e758 15_100349293_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 100349293 AT A 341 PASS - Del - 1 8 MSH6 child 15_100349293_ATA_MSH6 1 1 1 T 7 T Repeat-mediated d5a7c1cc-3298-11e6-8de1-2d9afaf1a024 7_32403858_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 32403858 AT A 480 PASS - Del - 1 7 CHK2 child 7_32403858_ATA_CHK2 1 1 1 T 6 T Repeat-mediated d5aa0f56-3273-11e6-983a-1d8bcf737e61 7_20607061_CTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 7 20607061 CT C 540 PASS - Del - 1 8 POLB child 7_20607061_CTC_POLB 1 1 1 T 7 T Repeat-mediated d5acb078-328f-11e6-b97d-a8b305ad5bc4 20_32610679_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 32610679 AT A 360 PASS RALY Del intronic 1 6 MSH6 child 20_32610679_ATA_MSH6 1 1 1 T 5 T Repeat-mediated d5af9a68-328f-11e6-9d97-efe56f39e758 4_81339503_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 81339503 TA T 480 PASS C4orf22 Del intronic 1 8 MSH6 child 4_81339503_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d5b31c78-3326-11e6-8030-ef8819a91649 6_147260948_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 6 147260948 AT A 300 PASS - Del - 1 9 CHK2 child 6_147260948_ATA_CHK2 1 1 1 T 8 T Repeat-mediated d5b7f2f2-3272-11e6-aebf-545f42c4520d 5_136451565_ATAACA . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 5 136451565 ATAAC A 360 PASS SPOCK1 Del intronic 4 2 POLB child 5_136451565_ATAACA_POLB 4 4 4 TAAC 1 TAAC Repeat-mediated d5bbc920-3274-11e6-9162-5cdb6de4ab00 11_117114576_GTCG . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 11 117114576 GTC G 960 PASS RNF214 Del intronic 2 3 CHK2 child 11_117114576_GTCG_CHK2 2 2 2 TC 2 TC Repeat-mediated d5bf910a-329b-11e6-b549-1e5325c9da85 10_119860943_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 119860943 GA G 420 PASS - Del - 1 9 MSH6 child 10_119860943_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d5c02fa4-328a-11e6-94b1-74090e01a414 17_78125399_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 78125399 TA T 420 PASS EIF4A3 Del upstream 1 6 MSH6 child 17_78125399_TAT_MSH6 1 1 1 A 5 A Repeat-mediated d5c9cce6-3292-11e6-87b7-f22a3dc9300a 16_29310677_TATGCTAGGAAAAGAATGT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 16 29310677 TATGCTAGGAAAAGAATG T 308 PASS SNX29P2 Del intronic 17 1 POLB child 16_29310677_TATGCTAGGAAAAGAATGT_POLB 17 >=10 1 A 0 - Microhomology-mediated d5ca46ec-3276-11e6-83cd-a472a178171f 4_129646620_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 129646620 GA G 480 PASS - Del - 1 6 MSH6 child 4_129646620_GAG_MSH6 1 1 1 A 5 A Repeat-mediated d5cac2bc-328e-11e6-b9c4-751d0e01a414 5_175876939_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 175876939 TA T 480 PASS FAF2 Del intronic 1 4 MSH6 child 5_175876939_TAT_MSH6 1 1 1 A 3 A Repeat-mediated d5cdc41c-328e-11e6-ba48-afb3cc638e3d 2_192002942_CCA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 2 192002942 C CA 420 PASS STAT4 Ins intronic 1 7 NUDT1 child 2_192002942_CCA_NUDT1 1 1 - - - - Ins d5d04400-3273-11e6-9065-cc4890e2c2e6 1_193190675_GGAATGTTAAAAAAAAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 193190675 GGAATGTTAAAAAAAA G 1020 PASS CDC73 Del intronic 15 1 MSH6 parent 1_193190675_GGAATGTTAAAAAAAAG_MSH6 15 >=10 3 GAA 0 - Microhomology-mediated d5d3bfcc-3273-11e6-b1f2-34f6620e6611 1_219971766_GAAG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 1 219971766 GAA G 420 PASS - Del - 2 4 CHK2 child 1_219971766_GAAG_CHK2 2 2 2 AA 2 A Repeat-mediated d5d8118c-3285-11e6-9b68-79e41da8ec0e 2_157779654_AAAG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 157779654 A AAG 300 PASS - Ins - 2 0 EXO1 child 2_157779654_AAAG_EXO1 2 2 - - - - Ins d5de1cd0-3299-11e6-aca6-b39fcc638e3d 2_2745547_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 2745547 TA T 420 PASS - Del - 1 8 MSH6 child 2_2745547_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d5f199b0-3256-11e6-b04f-1ca12aaffa45 8_4795036_CAC . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 8 4795036 CA C 480 PASS CSMD1 Del intronic 1 8 POLM child 8_4795036_CAC_POLM 1 1 1 A 7 A Repeat-mediated d5f20268-329e-11e6-b696-dd6225c9da85 5_114406400_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 114406400 GA G 420 PASS - Del - 1 8 MSH6 child 5_114406400_GAG_MSH6 1 1 1 A 7 A Repeat-mediated d5f6fd32-3293-11e6-83fc-8f4c0d016689 4_43895321_TTGTCT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 4 43895321 TTGTC T 406 PASS - Del - 4 1 NUDT1 child 4_43895321_TTGTCT_NUDT1 4 4 3 TGT 0 - Microhomology-mediated d5f863f2-327a-11e6-891f-f872fc77b11e 20_43006874_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 20 43006874 AT A 600 PASS HNF4A Del intronic 1 6 CHK2 child 20_43006874_ATA_CHK2 1 1 1 T 5 T Repeat-mediated d60be938-3273-11e6-bb57-2543fa52e078 22_23595946_TTCT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 22 23595946 TTC T 420 PASS BCR Del intronic 2 2 CHK2 child 22_23595946_TTCT_CHK2 2 2 2 TC 1 TC Repeat-mediated d60dd002-328e-11e6-bec1-ca1d0e01a414 X_127817925_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 127817925 GA G 300 PASS - Del - 1 9 MSH6 child X_127817925_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d6141ad8-3325-11e6-aad6-fc2b9a696edf 9_135532335_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 135532335 GA G 720 PASS DDX31 Del intronic 1 7 EXO1 child 9_135532335_GAG_EXO1 1 1 1 A 6 A Repeat-mediated d6246ca0-329c-11e6-a5cf-205325c9da85 11_48719941_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 48719941 T TA 398 PASS - Ins - 1 5 MSH6 child 11_48719941_TTA_MSH6 1 1 - - - - Ins d6305080-3286-11e6-8b67-086ea2c71c31 1_218828828_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 218828828 AC A 480 PASS - Del - 1 5 MSH6 child 1_218828828_ACA_MSH6 1 1 1 C 4 C Repeat-mediated d64c833a-32a0-11e6-aea7-956725c9da85 3_160425857_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 160425857 GA G 720 PASS - Del - 1 9 MSH6 child 3_160425857_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d65751a4-3299-11e6-b129-195325c9da85 16_1168226_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 1168226 AC A 480 PASS LA16c-381G6.1 Del downstream 1 7 MSH6 child 16_1168226_ACA_MSH6 1 1 1 C 6 C Repeat-mediated d6579d02-3277-11e6-a391-f6d67d6a9fc7 6_23968625_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 23968625 CT C 420 PASS - Del - 1 8 MSH6 child 6_23968625_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d65b2b04-3257-11e6-89d3-d29498816cf3 2_218820864_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 218820864 G GT 300 PASS TNS1 Ins intronic 1 7 MSH6 child 2_218820864_GGT_MSH6 1 1 - - - - Ins d6621b0e-326f-11e6-b264-9097fa52e078 17_73894603_CCTC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 17 73894603 CCT C 480 PASS TRIM65 Del upstream 2 1 POLM child 17_73894603_CCTC_POLM 2 2 0 - 0 - None d6632874-326e-11e6-bf40-308964f80bad 4_20707331_TTAAT . HAP1_POLM_21 HAP1_parental_75_WT_DNA 4 20707331 TTAA T 480 PASS PACRGL Del intronic 3 2 POLM parent 4_20707331_TTAAT_POLM 3 3 3 TAA 1 TAA Repeat-mediated d667cb0a-329f-11e6-91d0-016425c9da85 7_139153918_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 139153918 AT A 415 PASS KLRG2 Del intronic 1 7 MSH6 child 7_139153918_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d667e80a-3255-11e6-8ebc-3ef212ae24cf 15_95679713_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 95679713 GA G 480 PASS RP11-255M2.2 Del upstream 1 9 MSH6 child 15_95679713_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d6763398-3281-11e6-a761-0604987b3f23 14_34064885_CTC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 14 34064885 CT C 540 PASS NPAS3 Del intronic 1 9 NEIL1 parent 14_34064885_CTC_NEIL1 1 1 1 T 8 T Repeat-mediated d68d7ca2-3253-11e6-bc65-c9667872c165 13_39792604_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 39792604 TA T 600 PASS - Del - 1 9 MSH6 child 13_39792604_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d697acc4-3279-11e6-b5ff-0de46de4ab00 5_125816993_AAT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 5 125816993 A AT 360 PASS GRAMD3 Ins intronic 1 1 POLB child 5_125816993_AAT_POLB 1 1 - - - - Ins d699e362-328e-11e6-9d97-efe56f39e758 4_15033714_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 15033714 TA T 420 PASS CPEB2 Del intronic 1 7 MSH6 child 4_15033714_TAT_MSH6 1 1 1 A 6 A Repeat-mediated d69f3484-3284-11e6-85df-bb936f39e758 14_103171468_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 14 103171468 CA C 480 PASS RCOR1 Del intronic 1 9 EXO1 child 14_103171468_CAC_EXO1 1 1 1 A 8 A Repeat-mediated d6a255e6-3253-11e6-89d3-d29498816cf3 2_36603618_GGGAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 36603618 GGGA G 600 PASS CRIM1 Del intronic 3 3 MSH6 child 2_36603618_GGGAG_MSH6 3 3 3 GGA 2 GGA Repeat-mediated d6a9bf40-3283-11e6-85df-bb936f39e758 14_23408118_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 14 23408118 CA C 575 PASS - Del - 1 7 EXO1 child 14_23408118_CAC_EXO1 1 1 1 A 6 A Repeat-mediated d6abe8a6-329c-11e6-ae71-0c5325c9da85 1_172588195_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 172588195 GA G 360 PASS - Del - 1 6 MSH6 child 1_172588195_GAG_MSH6 1 1 1 A 5 A Repeat-mediated d6b43c4a-3274-11e6-bde9-8c1aead19ece 10_85724950_TAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 10 85724950 TA T 480 PASS - Del - 1 8 NEIL1 child 10_85724950_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated d6b6acca-329a-11e6-b549-1e5325c9da85 10_62866584_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 62866584 AT A 420 PASS - Del - 1 9 MSH6 child 10_62866584_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d6b6d092-3290-11e6-9d97-efe56f39e758 4_150311019_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 150311019 GA G 360 PASS RP11-526A4.1 Del intronic 1 9 MSH6 child 4_150311019_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d6b83fb8-3286-11e6-a5b3-3f1ebce6aa09 7_36579299_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 36579299 GT G 720 PASS AOAH Del intronic 1 7 MSH6 child 7_36579299_GTG_MSH6 1 1 1 T 6 T Repeat-mediated d6b9c416-3257-11e6-8cd9-139b7872c165 3_21965817_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 21965817 GT G 420 PASS - Del - 1 8 MSH6 child 3_21965817_GTG_MSH6 1 1 1 T 7 T Repeat-mediated d6baca28-3284-11e6-a8af-066ea2c71c31 15_50487039_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 50487039 GA G 660 PASS SLC27A2 Del intronic 1 9 MSH6 child 15_50487039_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d6c3a48c-3283-11e6-83b0-2c6e0d016689 2_14685622_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 14685622 AT A 420 PASS - Del - 1 8 EXO1 child 2_14685622_ATA_EXO1 1 1 1 T 7 T Repeat-mediated d6c4332c-3272-11e6-8f33-a6d9cde16804 11_41916970_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 41916970 CT C 660 PASS - Del - 1 5 MSH6 child 11_41916970_CTC_MSH6 1 1 1 T 4 T Repeat-mediated d6c58514-329b-11e6-aca6-b39fcc638e3d 2_135708210_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 135708210 GA G 600 PASS CCNT2 Del intronic 1 9 MSH6 child 2_135708210_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d6d575fe-327e-11e6-ba36-88d64dc77248 7_23406102_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 7 23406102 CT C 660 PASS IGF2BP3 Del intronic 1 7 NUDT1 child 7_23406102_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated d6d9b094-3259-11e6-9f82-71a92aaffa45 6_133326394_GAG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 6 133326394 GA G 480 PASS - Del - 1 5 POLM child 6_133326394_GAG_POLM 1 1 1 A 4 A Repeat-mediated d6dccfbe-3325-11e6-9eb4-dd99cf737e61 8_56545973_CAC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 56545973 CA C 300 PASS - Del - 1 8 EXO1 child 8_56545973_CAC_EXO1 1 1 1 A 7 A Repeat-mediated d6deb7be-3296-11e6-8313-913e8cd8cd69 10_61138269_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 10 61138269 CA C 540 PASS - Del - 1 7 CHK2 child 10_61138269_CAC_CHK2 1 1 1 A 6 A Repeat-mediated d6f37932-326f-11e6-b923-6726694da5d2 5_26408031_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 26408031 AT A 480 PASS - Del - 1 9 MSH6 child 5_26408031_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d6f8d858-3285-11e6-9955-19979cdf095d 8_90520725_AGA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 90520725 AG A 600 PASS - Del - 1 2 POLE child 8_90520725_AGA_POLE 1 1 1 G 1 G Repeat-mediated d6f94cee-3270-11e6-b923-6726694da5d2 5_97814606_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 97814606 CA C 360 PASS - Del - 1 9 MSH6 child 5_97814606_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d6fb7b76-328f-11e6-b97d-a8b305ad5bc4 20_33054129_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 33054129 AT A 600 PASS ITCH Del intronic 1 9 MSH6 child 20_33054129_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d6ff11f2-329c-11e6-ae71-0c5325c9da85 1_172647543_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 172647543 CT C 540 PASS - Del - 1 9 MSH6 child 1_172647543_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d7049528-3279-11e6-8c34-46e27872c165 5_138919186_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 138919186 A AT 381 PASS UBE2D2 Ins intronic 1 8 MSH6 child 5_138919186_AAT_MSH6 1 1 - - - - Ins d7099f98-3272-11e6-826a-adb6fa52e078 17_26039634_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 26039634 AG A 840 PASS - Del - 1 2 MSH6 child 17_26039634_AGA_MSH6 1 1 1 G 1 G Repeat-mediated d70da830-326e-11e6-9d68-ac9acab49462 15_92574445_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 92574445 GA G 360 PASS SLCO3A1 Del intronic 1 8 MSH6 child 15_92574445_GAG_MSH6 1 1 1 A 7 A Repeat-mediated d70f2300-3277-11e6-9a3d-a569e7d0bdd7 3_113077173_CAC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 3 113077173 CA C 360 PASS WDR52 Del intronic 1 9 POLB child 3_113077173_CAC_POLB 1 1 1 A 8 A Repeat-mediated d712f040-329d-11e6-bc2c-2a5e25c9da85 4_58892333_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 58892333 CT C 766 PASS - Del - 1 7 MSH6 child 4_58892333_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d719e51e-3273-11e6-bfcc-6defed3c4f5d 2_2598832_CAC . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 2 2598832 CA C 300 PASS - Del - 1 8 NEIL1 child 2_2598832_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated d71d52e8-3288-11e6-a8a6-92e95d753391 10_90834142_CAAATC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 10 90834142 CAAAT C 660 PASS - Del - 4 1 POLE child 10_90834142_CAAATC_POLE 4 4 3 AAA 0 - Microhomology-mediated d7206b7e-3321-11e6-8c1c-2deb137bb207 15_67785997_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 15 67785997 AT A 660 PASS IQCH Del intronic 1 8 EXO1 child 15_67785997_ATA_EXO1 1 1 1 T 7 T Repeat-mediated d725529a-3292-11e6-bc47-5448a178171f 12_23529938_AACA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 12 23529938 AAC A 360 PASS - Del - 2 2 NEIL1 child 12_23529938_AACA_NEIL1 2 2 2 AC 1 AC Repeat-mediated d7266f12-3284-11e6-a0a8-096ea2c71c31 11_42759944_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 42759944 TA T 300 PASS - Del - 1 8 MSH6 child 11_42759944_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d73bf54a-326f-11e6-a777-d57d9cdf095d 10_65473593_CTTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 10 65473593 CTT C 600 PASS RP11-170M17.1 Del intronic 2 4 EXO1 parent 10_65473593_CTTC_EXO1 2 2 2 TT 2 T Repeat-mediated d748ba8e-3277-11e6-a71d-236235cec73b X_147695236_ATCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 147695236 ATC A 660 PASS AFF2 Del intronic 2 7 MSH6 child X_147695236_ATCA_MSH6 2 2 2 TC 6 TC Repeat-mediated d74a7346-328c-11e6-bec1-ca1d0e01a414 X_37242860_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 37242860 AT A 1080 PASS PRRG1 Del intronic 1 7 MSH6 child X_37242860_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d74be3a4-3294-11e6-9ac5-d165046f68b1 7_38601797_GAG . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 7 38601797 GA G 300 PASS AMPH Del intronic 1 9 NEIL1 child 7_38601797_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated d750c0c6-3295-11e6-b04a-0c16b968caf4 4_160597709_GTG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 4 160597709 GT G 360 PASS RP11-6C14.1 Del intronic 1 9 POLB child 4_160597709_GTG_POLB 1 1 1 T 8 T Repeat-mediated d75d9eae-3290-11e6-b81f-4ee66f39e758 8_75477933_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 75477933 CA C 480 PASS - Del - 1 8 MSH6 child 8_75477933_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d75dc7f6-326f-11e6-bfba-13bf4a47a305 9_132849915_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 132849915 TA T 360 PASS GPR107 Del intronic 1 8 MSH6 child 9_132849915_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d775e134-328c-11e6-b43c-7ec36f39e758 16_77336237_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 77336237 CT C 360 PASS ADAMTS18 Del intronic 1 8 MSH6 child 16_77336237_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d779b100-328d-11e6-8770-3e160e01a414 9_2825399_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 2825399 T TA 300 PASS KIAA0020 Ins intronic 1 5 MSH6 child 9_2825399_TTA_MSH6 1 1 - - - - Ins d78aa0c6-329e-11e6-8c2e-3f6625c9da85 22_50420702_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 22 50420702 AT A 540 PASS - Del - 1 8 MSH6 child 22_50420702_ATA_MSH6 1 1 1 T 7 T Repeat-mediated d794abb0-329f-11e6-bc2c-2a5e25c9da85 4_185349958_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 185349958 GA G 540 PASS IRF2 Del intronic 1 7 MSH6 child 4_185349958_GAG_MSH6 1 1 1 A 6 A Repeat-mediated d796040a-3287-11e6-8404-8e1fbce6aa09 8_60376664_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 60376664 CT C 625 PASS - Del - 1 9 MSH6 child 8_60376664_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d7963e54-3299-11e6-aca6-b39fcc638e3d 2_3204435_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 3204435 AG A 960 PASS TSSC1 Del intronic 1 6 MSH6 child 2_3204435_AGA_MSH6 1 1 1 G 5 G Repeat-mediated d796e012-3347-11e6-a9cc-a0a270cce0de 2_126409071_CAC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 126409071 CA C 300 PASS - Del - 1 9 FANCC child 2_126409071_CAC_FANCC 1 1 1 A 8 A Repeat-mediated d79c2396-3271-11e6-abaf-4642cab49462 6_21877940_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 21877940 CA C 300 PASS CASC15 Del intronic 1 9 MSH6 child 6_21877940_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d7a2e95c-3289-11e6-94b1-74090e01a414 17_29687463_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 29687463 TA T 960 PASS NF1 Del intronic 1 8 MSH6 child 17_29687463_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d7aa4e56-3282-11e6-a072-0fc02daed38e 7_20478689_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 7 20478689 AT A 480 PASS - Del - 1 8 POLB child 7_20478689_ATA_POLB 1 1 1 T 7 T Repeat-mediated d7aaf3f6-3278-11e6-9972-dabcecf1e924 3_113971369_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 3 113971369 AT A 600 PASS - Del - 1 7 NEIL1 child 3_113971369_ATA_NEIL1 1 1 1 T 6 T Repeat-mediated d7b24f58-329a-11e6-9048-b49fcc638e3d 17_42220855_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 42220855 CA C 900 PASS C17orf53 Del intronic 1 9 MSH6 child 17_42220855_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d7bb24f8-3253-11e6-9f9d-2c7a7872c165 12_19515478_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 19515478 GA G 360 PASS PLEKHA5 Del intronic 1 9 MSH6 child 12_19515478_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d7bd52b6-3328-11e6-8b1e-ddf006e9a829 20_48906227_CATTC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 20 48906227 CATT C 480 PASS RP11-290F20.1 Del upstream 3 1 POLE child 20_48906227_CATTC_POLE 3 3 2 AT 0 - Microhomology-mediated d7c34bf0-3259-11e6-8340-da9012ae24cf 6_92811104_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 92811104 TA T 540 PASS - Del - 1 5 MSH6 child 6_92811104_TAT_MSH6 1 1 1 A 4 A Repeat-mediated d7cb9ad4-3287-11e6-8404-8e1fbce6aa09 8_60483611_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 60483611 TA T 720 PASS RP11-379I19.1 Del intronic 1 7 MSH6 child 8_60483611_TAT_MSH6 1 1 1 A 6 A Repeat-mediated d7cd2e4c-3275-11e6-83cd-a472a178171f 4_55073102_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 55073102 TA T 540 PASS - Del - 1 9 MSH6 child 4_55073102_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d7d64350-3276-11e6-9019-27a01da8ec0e 6_54673816_AGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 6 54673816 AG A 360 PASS - Del - 1 3 FANCC child 6_54673816_AGA_FANCC 1 1 1 G 2 G Repeat-mediated d7dd48e2-3291-11e6-8a53-36c05d753391 X_104459474_CAAATTAGAGCTCAC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA X 104459474 CAAATTAGAGCTCA C 420 PASS IL1RAPL2 Del intronic 13 1 POLB child X_104459474_CAAATTAGAGCTCAC_POLB 13 >=10 1 A 0 - Microhomology-mediated d7ddb926-3278-11e6-a391-f6d67d6a9fc7 6_92338563_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 92338563 AT A 660 PASS CASC6 Del downstream 1 7 MSH6 child 6_92338563_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d7ef8826-3288-11e6-a941-5a85a178171f 9_96833625_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 9 96833625 AT A 600 PASS PTPDC1 Del intronic 1 9 FANCC child 9_96833625_ATA_FANCC 1 1 1 T 8 T Repeat-mediated d7f1114c-3273-11e6-b923-6726694da5d2 5_143036113_CCAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 143036113 C CAT 480 PASS - Ins - 2 5 MSH6 child 5_143036113_CCAT_MSH6 2 2 - - - - Ins d7f95e8e-3272-11e6-803d-c550e7d0bdd7 11_5076893_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 11 5076893 AT A 480 PASS OR52E2 Del downstream 1 8 EXO1 child 11_5076893_ATA_EXO1 1 1 1 T 7 T Repeat-mediated d7ff19c2-328c-11e6-ad95-4e7f30158702 X_47359963_AATGCGGTGTGGAAACTAAAGCAACTCCATCTTGGA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA X 47359963 AATGCGGTGTGGAAACTAAAGCAACTCCATCTTGG A 540 PASS - Del - 34 1 POLM child X_47359963_AATGCGGTGTGGAAACTAAAGCAACTCCATCTTGGA_POLM 34 >=10 4 ATGC 0 - Microhomology-mediated d808137e-328c-11e6-8566-7f5c694da5d2 11_29038172_GTGTAAAAGTGTTCCG . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 11 29038172 GTGTAAAAGTGTTCC G 600 PASS RP11-115J23.1 Del intronic 14 1 POLM child 11_29038172_GTGTAAAAGTGTTCCG_POLM 14 >=10 1 T 0 - Microhomology-mediated d80afdcc-3256-11e6-91d3-a68412ae24cf 7_23932141_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 23932141 TA T 780 PASS AC009508.1 Del intronic 1 9 MSH6 child 7_23932141_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d80de97c-3280-11e6-971a-ac2236fc2f7d 19_5931724_TAT . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 19 5931724 TA T 480 PASS RANBP3 Del intronic 1 9 NUDT1 child 19_5931724_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated d80fe608-329b-11e6-a5cf-205325c9da85 11_124614406_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 124614406 TA T 660 PASS NRGN Del intronic 1 5 MSH6 child 11_124614406_TAT_MSH6 1 1 1 A 4 A Repeat-mediated d81aba1a-3287-11e6-95fb-1402b5d65427 10_133623372_ATA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 10 133623372 AT A 300 PASS AL450307.1 Del upstream 1 7 NUDT1 parent 10_133623372_ATA_NUDT1 1 1 1 T 6 T Repeat-mediated d81d9030-3284-11e6-a0a8-096ea2c71c31 11_43073079_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 43073079 GA G 420 PASS - Del - 1 5 MSH6 child 11_43073079_GAG_MSH6 1 1 1 A 4 A Repeat-mediated d825c0de-3257-11e6-acc5-308412ae24cf 5_105294165_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 105294165 GT G 300 PASS - Del - 1 9 MSH6 child 5_105294165_GTG_MSH6 1 1 1 T 8 T Repeat-mediated d82acf42-3325-11e6-898e-b9f2bbe6aa09 3_117066078_CCT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 3 117066078 C CT 360 PASS LSAMP Ins intronic 1 8 POLE child 3_117066078_CCT_POLE 1 1 - - - - Ins d839d844-3284-11e6-a1ac-fd6da2c71c31 13_58627710_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 58627710 CT C 420 PASS - Del - 1 7 MSH6 child 13_58627710_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d839f746-3254-11e6-a304-347a7872c165 1_82025610_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 82025610 TA T 780 PASS LPHN2 Del intronic 1 6 MSH6 child 1_82025610_TAT_MSH6 1 1 1 A 5 A Repeat-mediated d83b2adc-3270-11e6-9d19-c216987b3f23 21_40998530_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 40998530 GT G 960 PASS B3GALT5 Del intronic 1 9 MSH6 child 21_40998530_GTG_MSH6 1 1 1 T 8 T Repeat-mediated d83d339e-328a-11e6-9c89-8d090e01a414 1_87390484_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 87390484 TG T 660 PASS HS2ST1 Del intronic 1 7 MSH6 child 1_87390484_TGT_MSH6 1 1 1 G 6 G Repeat-mediated d840ab2c-3290-11e6-9d97-efe56f39e758 4_150964987_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 150964987 GT G 600 PASS - Del - 1 8 MSH6 child 4_150964987_GTG_MSH6 1 1 1 T 7 T Repeat-mediated d842419e-328b-11e6-ae53-96c36f39e758 15_33438754_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 33438754 GA G 360 PASS FMN1 Del intronic 1 9 MSH6 child 15_33438754_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d848ec3a-3284-11e6-a8af-066ea2c71c31 15_50735674_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 50735674 GT G 360 PASS USP8 Del intronic 1 8 MSH6 child 15_50735674_GTG_MSH6 1 1 1 T 7 T Repeat-mediated d8507930-3259-11e6-8340-da9012ae24cf 6_92938004_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 92938004 CT C 420 PASS - Del - 1 8 MSH6 child 6_92938004_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d85fa492-326c-11e6-b9f4-5d1d694da5d2 14_36595201_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 36595201 AT A 480 PASS LINC00609 Del intronic 1 8 MSH6 child 14_36595201_ATA_MSH6 1 1 1 T 7 T Repeat-mediated d85fb14e-3276-11e6-92d2-c259c225ee11 3_40145249_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 40145249 TA T 600 PASS MYRIP Del intronic 1 8 MSH6 child 3_40145249_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d8616c56-3257-11e6-acc5-308412ae24cf 5_105369309_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 105369309 TA T 600 PASS - Del - 1 8 MSH6 child 5_105369309_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d8692576-3299-11e6-8069-175325c9da85 12_1123066_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 1123066 TA T 480 PASS ERC1 Del intronic 1 9 MSH6 child 12_1123066_TAT_MSH6 1 1 1 A 8 A Repeat-mediated d8702540-328c-11e6-b9c4-751d0e01a414 5_39049027_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 39049027 TA T 420 PASS RICTOR Del intronic 1 6 MSH6 child 5_39049027_TAT_MSH6 1 1 1 A 5 A Repeat-mediated d87e0d24-328a-11e6-a2c2-fa8aa178171f 8_69537645_AATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 8 69537645 AAT A 660 PASS C8orf34 Del intronic 2 1 FANCC child 8_69537645_AATA_FANCC 2 2 0 - 0 - None d880a1e0-329b-11e6-aca6-b39fcc638e3d 2_136116548_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 136116548 GT G 780 PASS ZRANB3 Del intronic 1 9 MSH6 child 2_136116548_GTG_MSH6 1 1 1 T 8 T Repeat-mediated d898c40e-3288-11e6-b9eb-c78fa2c71c31 6_98970352_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 98970352 CA C 360 PASS - Del - 1 9 MSH6 child 6_98970352_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d8a19028-328f-11e6-9d97-efe56f39e758 4_82439852_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 82439852 CA C 360 PASS RASGEF1B Del intronic 1 7 MSH6 child 4_82439852_CAC_MSH6 1 1 1 A 6 A Repeat-mediated d8a40f16-3270-11e6-a539-0e5542c4520d 7_136138667_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 136138667 CT C 720 PASS - Del - 1 7 MSH6 child 7_136138667_CTC_MSH6 1 1 1 T 6 T Repeat-mediated d8a50404-329b-11e6-aca6-b39fcc638e3d 2_136140740_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 136140740 CA C 360 PASS ZRANB3 Del intronic 1 9 MSH6 child 2_136140740_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d8a6b7b4-3272-11e6-bfb2-2749c225ee11 12_32233308_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 32233308 AT A 720 PASS - Del - 1 9 MSH6 child 12_32233308_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d8a722c8-328e-11e6-b9c4-751d0e01a414 5_176373513_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 176373513 CA C 300 PASS UIMC1 Del intronic 1 9 MSH6 child 5_176373513_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d8a905a2-325c-11e6-8cd9-139b7872c165 3_192438857_GGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 192438857 G GA 480 PASS FGF12 Ins intronic 1 2 MSH6 child 3_192438857_GGA_MSH6 1 1 - - - - Ins d8b0fb04-3289-11e6-8eee-76090e01a414 10_34919917_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 34919917 AT A 300 PASS PARD3 Del intronic 1 7 MSH6 child 10_34919917_ATA_MSH6 1 1 1 T 6 T Repeat-mediated d8b515c0-328b-11e6-9539-3490a178171f 3_195252499_GAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 195252499 GA G 360 PASS PPP1R2 Del intronic 1 5 FANCC child 3_195252499_GAG_FANCC 1 1 1 A 4 A Repeat-mediated d8bbccd2-3270-11e6-8418-1c5942c4520d 3_81336196_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 81336196 AT A 360 PASS RP11-520D19.2 Del intronic 1 6 MSH6 child 3_81336196_ATA_MSH6 1 1 1 T 5 T Repeat-mediated d8c4a4f8-3255-11e6-8ebc-3ef212ae24cf 15_96482238_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 96482238 CA C 480 PASS - Del - 1 6 MSH6 child 15_96482238_CAC_MSH6 1 1 1 A 5 A Repeat-mediated d8c955c8-328e-11e6-b8e6-91c36f39e758 11_79575462_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 79575462 C CA 600 PASS - Ins - 1 1 MSH6 child 11_79575462_CCA_MSH6 1 1 - - - - Ins d8d45d88-3289-11e6-821d-8c090e01a414 13_50763495_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 50763495 TA T 480 PASS - Del - 1 8 MSH6 child 13_50763495_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d8e32996-3287-11e6-a21c-b819bce6aa09 X_136291484_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 136291484 TA T 600 PASS - Del - 1 8 MSH6 child X_136291484_TAT_MSH6 1 1 1 A 7 A Repeat-mediated d8e3580c-3292-11e6-8b9f-eea73adbad45 3_153334469_GAG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 153334469 GA G 300 PASS - Del - 1 7 NEIL1 child 3_153334469_GAG_NEIL1 1 1 1 A 6 A Repeat-mediated d8e53ade-3281-11e6-86cf-8f288e4678dd 10_117768564_AAAGGAGATCAAACCAGCCACAACATTCCCTTAAGCCGAAGCCTAATCCAGAGCA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 117768564 AAAGGAGATCAAACCAGCCACAACATTCCCTTAAGCCGAAGCCTAATCCAGAGC A 660 PASS - Del - 53 1 FANCC child 10_117768564_AAAGGAGATCAAACCAGCCACAACATTCCCTTAAGCCGAAGCCTAATCCAGAGCA_FANCC 53 >=10 4 AAGG 0 - Microhomology-mediated d8e6049c-3325-11e6-afff-8a61fc77b11e 7_46160506_TCT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 7 46160506 TC T 360 PASS - Del - 1 1 EXO1 child 7_46160506_TCT_EXO1 1 1 0 - 0 C None d8eb7712-3256-11e6-b950-8759fa52e078 X_51171818_GTG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA X 51171818 GT G 272 PASS RP11-348F1.2 Del intronic 1 6 POLM child X_51171818_GTG_POLM 1 1 1 T 5 T Repeat-mediated d8fc163e-327f-11e6-a6bc-51fe684da5d2 15_85867705_GTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 15 85867705 GT G 480 PASS - Del - 1 7 NEIL1 child 15_85867705_GTG_NEIL1 1 1 1 T 6 T Repeat-mediated d90e88f4-3325-11e6-a5c2-ba124530f757 8_14706904_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 8 14706904 CT C 300 PASS SGCZ Del intronic 1 9 CHK2 child 8_14706904_CTC_CHK2 1 1 1 T 8 T Repeat-mediated d9128012-3280-11e6-befb-a32236fc2f7d 2_10825901_GAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 2 10825901 GA G 360 PASS NOL10 Del intronic 1 8 NUDT1 child 2_10825901_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated d91f13b4-3289-11e6-a80b-87090e01a414 11_34483593_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 34483593 CT C 300 PASS CAT Del intronic 1 9 MSH6 child 11_34483593_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d91f6188-328f-11e6-92cf-bf2a0e01a414 6_66738407_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 66738407 AT A 300 PASS - Del - 1 5 MSH6 child 6_66738407_ATA_MSH6 1 1 1 T 4 T Repeat-mediated d923b02c-3270-11e6-b89d-b2d6b0dab373 4_89101136_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 89101136 AG A 420 PASS ABCG2 Del intronic 1 1 MSH6 child 4_89101136_AGA_MSH6 1 1 0 - 0 G None d92b2bb6-3326-11e6-b0c6-e1e369062303 5_149885846_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 5 149885846 AT A 360 PASS NDST1 Del upstream 1 9 EXO1 child 5_149885846_ATA_EXO1 1 1 1 T 8 T Repeat-mediated d935a6a6-3270-11e6-9d19-c216987b3f23 21_41223226_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 41223226 TA T 300 PASS - Del - 1 6 MSH6 child 21_41223226_TAT_MSH6 1 1 1 A 5 A Repeat-mediated d93e52e4-32a0-11e6-ae71-0c5325c9da85 1_158592588_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 158592588 T TA 300 PASS SPTA1 Ins intronic 1 7 MSH6 child 1_158592588_TTA_MSH6 1 1 - - - - Ins d943752c-3290-11e6-b81f-4ee66f39e758 8_76248609_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 76248609 CA C 420 PASS - Del - 1 9 MSH6 child 8_76248609_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d943f36c-3290-11e6-8e48-791e0e01a414 8_61034012_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 61034012 C CA 540 PASS - Ins - 1 6 MSH6 child 8_61034012_CCA_MSH6 1 1 - - - - Ins d9490cb8-328a-11e6-b805-77090e01a414 2_104306912_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 104306912 GA G 300 PASS - Del - 1 8 MSH6 child 2_104306912_GAG_MSH6 1 1 1 A 7 A Repeat-mediated d94b6c5e-32a0-11e6-a04f-c66a25c9da85 6_101480117_TTGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 101480117 TTG T 840 PASS - Del - 2 1 MSH6 child 6_101480117_TTGT_MSH6 2 2 1 T 0 - Microhomology-mediated d94d2d88-3277-11e6-92d2-c259c225ee11 3_112903913_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 112903913 CA C 1020 PASS - Del - 1 9 MSH6 child 3_112903913_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d954036c-328e-11e6-b805-77090e01a414 2_112599422_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 112599422 G GA 300 PASS ANAPC1 Ins intronic 1 6 MSH6 child 2_112599422_GGA_MSH6 1 1 - - - - Ins d9555386-32a0-11e6-91d0-016425c9da85 7_35738868_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 35738868 C CA 420 PASS HERPUD2 Ins upstream 1 5 MSH6 child 7_35738868_CCA_MSH6 1 1 - - - - Ins d956617c-326e-11e6-9fba-41ebd8b4fa2c 11_82638957_TCAGAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 82638957 TCAGA T 360 PASS C11orf82 Del intronic 4 1 MSH6 child 11_82638957_TCAGAT_MSH6 4 4 2 CA 0 - Microhomology-mediated d964bf30-3299-11e6-bda6-065325c9da85 13_20841182_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 20841182 CT C 840 PASS - Del - 1 9 MSH6 child 13_20841182_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d96e19fc-328c-11e6-bd84-429305ad5bc4 1_178240658_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 178240658 GT G 480 PASS RASAL2 Del intronic 1 9 MSH6 child 1_178240658_GTG_MSH6 1 1 1 T 8 T Repeat-mediated d970bc04-3276-11e6-a2b7-2d8b671699ea 21_29888518_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 29888518 CA C 300 PASS AF131217.1 Del intronic 1 8 MSH6 child 21_29888518_CAC_MSH6 1 1 1 A 7 A Repeat-mediated d97ec310-32a0-11e6-bc66-17b4cc638e3d 8_137983134_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 137983134 CT C 660 PASS RP11-30J20.1 Del intronic 1 9 MSH6 child 8_137983134_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d987fad4-325a-11e6-8b28-55ad7872c165 20_15367592_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 15367592 CT C 660 PASS MACROD2 Del intronic 1 6 MSH6 child 20_15367592_CTC_MSH6 1 1 1 T 5 T Repeat-mediated d9888790-328e-11e6-8e48-791e0e01a414 8_83572955_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 83572955 GT G 660 PASS RP11-653B10.1 Del intronic 1 4 MSH6 child 8_83572955_GTG_MSH6 1 1 1 T 3 T Repeat-mediated d989123c-3270-11e6-a539-0e5542c4520d 7_136444219_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 136444219 CT C 540 PASS - Del - 1 9 MSH6 child 7_136444219_CTC_MSH6 1 1 1 T 8 T Repeat-mediated d98a0944-3257-11e6-91d3-a68412ae24cf 7_101450304_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 101450304 CA C 540 PASS - Del - 1 9 MSH6 child 7_101450304_CAC_MSH6 1 1 1 A 8 A Repeat-mediated d98af8ee-3320-11e6-9b79-b58f0cfb5812 1_90841635_GTG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 1 90841635 GT G 540 PASS - Del - 1 7 POLE child 1_90841635_GTG_POLE 1 1 1 T 6 T Repeat-mediated d98f2370-3284-11e6-a0a8-096ea2c71c31 11_43614318_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 43614318 AT A 660 PASS - Del - 1 9 MSH6 child 11_43614318_ATA_MSH6 1 1 1 T 8 T Repeat-mediated d992bbc4-329e-11e6-94ca-0aaecc638e3d X_73343300_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 73343300 TG T 480 PASS FTX Del intronic 1 9 MSH6 child X_73343300_TGT_MSH6 1 1 1 G 8 G Repeat-mediated d99a4952-328a-11e6-b74f-549ba2c71c31 20_42407154_AAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 42407154 A AC 360 PASS - Ins - 1 2 MSH6 child 20_42407154_AAC_MSH6 1 1 - - - - Ins d99bcb78-3290-11e6-aa67-b667694da5d2 5_117746318_CAC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 5 117746318 CA C 540 PASS - Del - 1 7 POLM child 5_117746318_CAC_POLM 1 1 1 A 6 A Repeat-mediated d9a2d86c-328d-11e6-b9c4-751d0e01a414 5_107647433_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 107647433 GA G 300 PASS FBXL17 Del intronic 1 7 MSH6 child 5_107647433_GAG_MSH6 1 1 1 A 6 A Repeat-mediated d9aa692e-3279-11e6-b7b5-ce91a78019ab 5_52801610_AAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 52801610 A AT 840 PASS - Ins - 1 8 NEIL1 child 5_52801610_AAT_NEIL1 1 1 - - - - Ins d9b04ede-327e-11e6-b263-76d64dc77248 8_27273606_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 27273606 TA T 480 PASS PTK2B Del intronic 1 9 NUDT1 child 8_27273606_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated d9b5e08c-328e-11e6-8952-77c36f39e758 10_92947278_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 92947278 T TA 480 PASS - Ins - 1 7 MSH6 child 10_92947278_TTA_MSH6 1 1 - - - - Ins d9bdae76-3323-11e6-8527-5503694da5d2 X_33068537_TAT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA X 33068537 TA T 720 PASS DMD Del intronic 1 7 EXO1 child X_33068537_TAT_EXO1 1 1 1 A 6 A Repeat-mediated d9c29948-3294-11e6-ae2c-d2ab9b6d3b88 3_97538728_GAG . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 3 97538728 GA G 300 PASS - Del - 1 9 NUDT1 child 3_97538728_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated d9c9b1a2-3289-11e6-94b1-74090e01a414 17_30146337_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 30146337 GA G 300 PASS - Del - 1 9 MSH6 child 17_30146337_GAG_MSH6 1 1 1 A 8 A Repeat-mediated d9ce75c8-3290-11e6-9d97-efe56f39e758 4_151166517_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 151166517 CT C 480 PASS DCLK2 Del intronic 1 8 MSH6 child 4_151166517_CTC_MSH6 1 1 1 T 7 T Repeat-mediated d9cf629e-329f-11e6-aea7-956725c9da85 3_87172608_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 87172608 TC T 600 PASS - Del - 1 4 MSH6 child 3_87172608_TCT_MSH6 1 1 1 C 3 C Repeat-mediated d9e6eb8e-329b-11e6-8069-175325c9da85 12_117062385_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 117062385 AG A 300 PASS - Del - 1 1 MSH6 child 12_117062385_AGA_MSH6 1 1 0 - 0 G None d9ebdefe-3297-11e6-bfe3-c11ec7271a47 2_139238458_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 139238458 AT A 360 PASS AC097721.2 Del intronic 1 8 CHK2 child 2_139238458_ATA_CHK2 1 1 1 T 7 T Repeat-mediated da048322-3289-11e6-a100-84090e01a414 18_41447892_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 41447892 TA T 300 PASS - Del - 1 7 MSH6 child 18_41447892_TAT_MSH6 1 1 1 A 6 A Repeat-mediated da080230-3271-11e6-893b-b9a58a20d9eb 18_29838327_GTCG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 18 29838327 GTC G 660 PASS - Del - 2 2 NEIL1 child 18_29838327_GTCG_NEIL1 2 2 2 TC 1 TC Repeat-mediated da088132-3277-11e6-92d2-c259c225ee11 3_113239334_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 113239334 GA G 660 PASS - Del - 1 5 MSH6 child 3_113239334_GAG_MSH6 1 1 1 A 4 A Repeat-mediated da0ba164-3272-11e6-9e18-3a69671699ea 10_30723930_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 30723930 GA G 480 PASS MAP3K8 Del intronic 1 9 MSH6 child 10_30723930_GAG_MSH6 1 1 1 A 8 A Repeat-mediated da202fb0-3297-11e6-a8ac-ea4f3dc9300a 6_150016513_ACA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 6 150016513 AC A 360 PASS LATS1 Del intronic 1 4 POLB child 6_150016513_ACA_POLB 1 1 1 C 3 C Repeat-mediated da23f382-3325-11e6-8edd-1f307246d362 3_102698189_CTC . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 3 102698189 CT C 720 PASS - Del - 1 7 CHK2 parent 3_102698189_CTC_CHK2 1 1 1 T 6 T Repeat-mediated da27a3e0-3278-11e6-a47c-77abeab8d062 5_2777686_CCG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 2777686 C CG 540 PASS - Ins - 1 3 EXO1 child 5_2777686_CCG_EXO1 1 1 - - - - Ins da2b5ef6-3285-11e6-b093-c9c7b0dab373 2_115212288_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 115212288 CT C 660 PASS DPP10 Del intronic 1 9 MSH6 child 2_115212288_CTC_MSH6 1 1 1 T 8 T Repeat-mediated da2e3e40-3254-11e6-bf41-357a7872c165 10_90030469_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 90030469 AT A 600 PASS RNLS Del downstream 1 8 MSH6 child 10_90030469_ATA_MSH6 1 1 1 T 7 T Repeat-mediated da319432-328b-11e6-ac7a-a3c36f39e758 18_22812827_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 22812827 TC T 480 PASS ZNF521 Del intronic 1 6 MSH6 child 18_22812827_TCT_MSH6 1 1 1 C 5 C Repeat-mediated da376908-328a-11e6-b576-9f9ccdacbbbf X_11772522_GAG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA X 11772522 GA G 360 PASS MSL3 Del upstream 1 9 FANCC child X_11772522_GAG_FANCC 1 1 1 A 8 A Repeat-mediated da3a14b8-334e-11e6-9f94-b3873cfdbd24 6_88802834_AATGAAAATGGGCCCTAAG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 6 88802834 A ATGAAAATGGGCCCTAAG 780 PASS - Ins - 17 0 FANCC child 6_88802834_AATGAAAATGGGCCCTAAG_FANCC 17 >=10 - - - - Ins da3c8bc0-3278-11e6-a391-f6d67d6a9fc7 6_93149085_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 93149085 TA T 1080 PASS - Del - 1 7 MSH6 child 6_93149085_TAT_MSH6 1 1 1 A 6 A Repeat-mediated da41546e-3270-11e6-9309-bdc34a47a305 8_70033471_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 70033471 AT A 420 PASS - Del - 1 9 MSH6 child 8_70033471_ATA_MSH6 1 1 1 T 8 T Repeat-mediated da474d64-329e-11e6-9c44-d26625c9da85 21_34860482_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 34860482 AT A 1080 PASS DNAJC28 Del downstream 1 4 MSH6 child 21_34860482_ATA_MSH6 1 1 1 T 3 T Repeat-mediated da594d3e-326c-11e6-9793-9a8fb0dab373 13_37233774_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 37233774 TA T 360 PASS - Del - 1 9 MSH6 child 13_37233774_TAT_MSH6 1 1 1 A 8 A Repeat-mediated da5cd8f2-3323-11e6-a276-86dbeab8d062 X_50671583_CATC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA X 50671583 CAT C 540 PASS - Del - 2 1 CHK2 child X_50671583_CATC_CHK2 2 2 1 A 0 - Microhomology-mediated da5f6c34-326f-11e6-a6cd-d6ad4dc77248 2_79962585_AGA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 2 79962585 AG A 360 PASS CTNNA2 Del intronic 1 1 NUDT1 child 2_79962585_AGA_NUDT1 1 1 0 - 0 G None da61de3e-3291-11e6-9401-04ed6f39e758 3_130459667_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 130459667 GA G 720 PASS PIK3R4 Del intronic 1 6 MSH6 child 3_130459667_GAG_MSH6 1 1 1 A 5 A Repeat-mediated da653f20-3273-11e6-8f33-a6d9cde16804 11_131877756_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 131877756 AT A 660 PASS NTM Del intronic 1 6 MSH6 child 11_131877756_ATA_MSH6 1 1 1 T 5 T Repeat-mediated da68e3d8-3277-11e6-8717-f13d8a20d9eb 6_7695622_GGAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 6 7695622 G GAT 420 PASS - Ins - 2 5 CHK2 child 6_7695622_GGAT_CHK2 2 2 - - - - Ins da6bd50e-3284-11e6-9daa-026ea2c71c31 14_67597213_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 67597213 CT C 660 PASS GPHN Del intronic 1 9 MSH6 child 14_67597213_CTC_MSH6 1 1 1 T 8 T Repeat-mediated da6e78f6-329b-11e6-aca6-b39fcc638e3d 2_136607086_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 136607086 TA T 960 PASS MCM6 Del intronic 1 7 MSH6 child 2_136607086_TAT_MSH6 1 1 1 A 6 A Repeat-mediated da72d97c-328d-11e6-b9c4-751d0e01a414 5_107815583_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 107815583 CT C 300 PASS - Del - 1 7 MSH6 child 5_107815583_CTC_MSH6 1 1 1 T 6 T Repeat-mediated da738a6c-3287-11e6-8feb-e6ab6f39e758 3_22168217_ATA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 3 22168217 AT A 600 PASS - Del - 1 1 EXO1 child 3_22168217_ATA_EXO1 1 1 0 - 0 T None da743802-3289-11e6-a100-84090e01a414 18_41630474_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 18 41630474 CA C 300 PASS - Del - 1 8 MSH6 child 18_41630474_CAC_MSH6 1 1 1 A 7 A Repeat-mediated da755a3e-3257-11e6-91d3-a68412ae24cf 7_101664587_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 101664587 AT A 780 PASS CUX1 Del intronic 1 9 MSH6 child 7_101664587_ATA_MSH6 1 1 1 T 8 T Repeat-mediated da781c50-32a3-11e6-aea7-956725c9da85 3_154125508_CCACACACACACAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 154125508 C CACACACACACAT 420 PASS GPR149 Ins intronic 12 0 MSH6 child 3_154125508_CCACACACACACAT_MSH6 12 >=10 - - - - Ins da796628-3271-11e6-8418-1c5942c4520d 3_178387149_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 178387149 CA C 420 PASS KCNMB2 Del intronic 1 8 MSH6 child 3_178387149_CAC_MSH6 1 1 1 A 7 A Repeat-mediated da7a749c-3270-11e6-b5b8-e0c24a47a305 X_92327926_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 92327926 CT C 468 PASS - Del - 1 9 MSH6 child X_92327926_CTC_MSH6 1 1 1 T 8 T Repeat-mediated da7e8364-328b-11e6-b805-77090e01a414 2_173335325_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 173335325 CA C 300 PASS ITGA6 Del intronic 1 8 MSH6 child 2_173335325_CAC_MSH6 1 1 1 A 7 A Repeat-mediated da843b30-3284-11e6-99f7-076ea2c71c31 12_42718460_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 42718460 TA T 780 PASS PPHLN1 Del upstream 1 8 MSH6 child 12_42718460_TAT_MSH6 1 1 1 A 7 A Repeat-mediated da86bdd0-326e-11e6-b264-9097fa52e078 17_10913251_ACA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 17 10913251 AC A 480 PASS - Del - 1 1 POLM child 17_10913251_ACA_POLM 1 1 0 - 0 C None da8fdfbe-329b-11e6-ae71-0c5325c9da85 1_109565536_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 109565536 AT A 420 PASS WDR47 Del intronic 1 7 MSH6 child 1_109565536_ATA_MSH6 1 1 1 T 6 T Repeat-mediated da94f014-3271-11e6-aebf-545f42c4520d 5_43408740_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 5 43408740 TA T 780 PASS CCL28 Del intronic 1 9 POLB child 5_43408740_TAT_POLB 1 1 1 A 8 A Repeat-mediated da9cdcf6-3272-11e6-aebf-545f42c4520d 5_137824743_TAGT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 5 137824743 TAG T 540 PASS - Del - 2 2 POLB child 5_137824743_TAGT_POLB 2 2 2 AG 1 AG Repeat-mediated daa3f56a-329d-11e6-a5cf-e5abcc638e3d 9_122187139_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 122187139 AT A 360 PASS - Del - 1 6 MSH6 child 9_122187139_ATA_MSH6 1 1 1 T 5 T Repeat-mediated daa4eb84-3296-11e6-90ba-2866a178171f 5_114863543_CAC . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 5 114863543 CA C 300 PASS FEM1C Del intronic 1 5 NEIL1 child 5_114863543_CAC_NEIL1 1 1 1 A 4 A Repeat-mediated daa57ef6-3272-11e6-b332-88ba7d6a9fc7 15_41580023_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 41580023 CA C 780 PASS OIP5-AS1 Del intronic 1 9 MSH6 child 15_41580023_CAC_MSH6 1 1 1 A 8 A Repeat-mediated daa78f52-326d-11e6-b306-b5204b47a305 2_109359254_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 109359254 AT A 456 PASS RANBP2 Del intronic 1 8 MSH6 child 2_109359254_ATA_MSH6 1 1 1 T 7 T Repeat-mediated daa7d448-3287-11e6-b32c-fd87a2c71c31 5_177571977_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 177571977 GT G 900 PASS RMND5B Del intronic 1 7 MSH6 child 5_177571977_GTG_MSH6 1 1 1 T 6 T Repeat-mediated daaba9e4-3253-11e6-8ebc-3ef212ae24cf 15_33987756_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 33987756 CA C 420 PASS RYR3 Del intronic 1 7 MSH6 child 15_33987756_CAC_MSH6 1 1 1 A 6 A Repeat-mediated daadd08e-326c-11e6-b2ac-b6204b47a305 17_13793665_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 13793665 CA C 360 PASS - Del - 1 6 MSH6 child 17_13793665_CAC_MSH6 1 1 1 A 5 A Repeat-mediated dab3648a-3281-11e6-81fd-f903987b3f23 2_21740467_CTC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 2 21740467 CT C 420 PASS AC011752.1 Del intronic 1 8 NEIL1 parent 2_21740467_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated dab5507a-328a-11e6-b805-77090e01a414 2_105154303_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 105154303 TC T 660 PASS - Del - 1 7 MSH6 child 2_105154303_TCT_MSH6 1 1 1 C 6 C Repeat-mediated dab727a2-328e-11e6-9d24-ade56f39e758 7_18087144_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 18087144 TA T 660 PASS - Del - 1 9 MSH6 child 7_18087144_TAT_MSH6 1 1 1 A 8 A Repeat-mediated dabf1556-326c-11e6-9d68-ac9acab49462 15_31866437_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 31866437 GA G 300 PASS OTUD7A Del intronic 1 6 MSH6 child 15_31866437_GAG_MSH6 1 1 1 A 5 A Repeat-mediated dacab13a-328b-11e6-bd84-429305ad5bc4 1_39915068_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 39915068 CT C 660 PASS MACF1 Del intronic 1 8 MSH6 child 1_39915068_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dad20e00-328e-11e6-9432-c0e56f39e758 5_19714655_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 19714655 AT A 420 PASS CDH18 Del intronic 1 8 MSH6 child 5_19714655_ATA_MSH6 1 1 1 T 7 T Repeat-mediated dad49ade-328f-11e6-9d24-ade56f39e758 7_82709780_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 82709780 AT A 480 PASS PCLO Del intronic 1 7 MSH6 child 7_82709780_ATA_MSH6 1 1 1 T 6 T Repeat-mediated dad9af84-3284-11e6-a8af-066ea2c71c31 15_51415449_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 51415449 GT G 300 PASS RP11-108K3.1 Del intronic 1 7 MSH6 child 15_51415449_GTG_MSH6 1 1 1 T 6 T Repeat-mediated dae50954-328b-11e6-8952-77c36f39e758 10_18743312_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 18743312 GT G 720 PASS CACNB2 Del intronic 1 7 MSH6 child 10_18743312_GTG_MSH6 1 1 1 T 6 T Repeat-mediated dae7cf2c-3254-11e6-bf41-357a7872c165 10_90257605_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 90257605 TA T 540 PASS RNLS Del intronic 1 6 MSH6 child 10_90257605_TAT_MSH6 1 1 1 A 5 A Repeat-mediated dae917ce-3326-11e6-95a6-476ac042253c 3_132353213_CCAGTTAGAATGGCGATC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 3 132353213 CCAGTTAGAATGGCGAT C 328 PASS ACAD11 Del intronic 16 1 CHK2 child 3_132353213_CCAGTTAGAATGGCGATC_CHK2 16 >=10 2 CA 0 - Microhomology-mediated daec2742-3273-11e6-9c0f-f6f412ae24cf 16_58606440_AGA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 16 58606440 AG A 300 PASS CNOT1 Del intronic 1 6 EXO1 child 16_58606440_AGA_EXO1 1 1 1 G 5 G Repeat-mediated dafb9b98-328f-11e6-9d24-ade56f39e758 7_82728632_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 82728632 GA G 300 PASS PCLO Del intronic 1 9 MSH6 child 7_82728632_GAG_MSH6 1 1 1 A 8 A Repeat-mediated dafbd4b0-327a-11e6-a391-f6d67d6a9fc7 6_43987775_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 43987775 A AT 600 PASS - Ins - 1 4 MSH6 child 6_43987775_AAT_MSH6 1 1 - - - - Ins db0494ae-3290-11e6-b184-c4257a852e0e 12_103681499_CAC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 12 103681499 CA C 300 PASS C12orf42 Del intronic 1 8 CHK2 child 12_103681499_CAC_CHK2 1 1 1 A 7 A Repeat-mediated db04f1e0-326f-11e6-a539-0e5542c4520d 7_64705189_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 64705189 TA T 420 PASS - Del - 1 9 MSH6 child 7_64705189_TAT_MSH6 1 1 1 A 8 A Repeat-mediated db085a52-3273-11e6-97a4-7a51e7d0bdd7 12_70778506_ATA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 12 70778506 AT A 480 PASS KCNMB4 Del intronic 1 9 POLB child 12_70778506_ATA_POLB 1 1 1 T 8 T Repeat-mediated db08d9f0-327d-11e6-b3cc-ea7df7be831b 4_152760379_ATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 4 152760379 AT A 600 PASS - Del - 1 6 FANCC parent 4_152760379_ATA_FANCC 1 1 1 T 5 T Repeat-mediated db0aab74-3320-11e6-b73c-6a3781635058 1_42018997_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 1 42018997 CT C 420 PASS HIVEP3 Del intronic 1 8 CHK2 child 1_42018997_CTC_CHK2 1 1 1 T 7 T Repeat-mediated db0abaf8-328d-11e6-b9c4-751d0e01a414 5_108018019_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 108018019 AT A 420 PASS - Del - 1 9 MSH6 child 5_108018019_ATA_MSH6 1 1 1 T 8 T Repeat-mediated db0cb612-326c-11e6-b9f4-5d1d694da5d2 14_37382184_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 37382184 CT C 600 PASS SLC25A21 Del intronic 1 9 MSH6 child 14_37382184_CTC_MSH6 1 1 1 T 8 T Repeat-mediated db13da36-3290-11e6-92cf-bf2a0e01a414 6_132898895_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 132898895 CA C 360 PASS - Del - 1 7 MSH6 child 6_132898895_CAC_MSH6 1 1 1 A 6 A Repeat-mediated db2712aa-3276-11e6-b068-16d27d6a9fc7 6_30151359_CAGC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 6 30151359 CAG C 360 PASS TRIM26 Del downstream 2 3 NEIL1 child 6_30151359_CAGC_NEIL1 2 2 2 AG 2 AG Repeat-mediated db277ac2-328c-11e6-8256-94c36f39e758 17_66256996_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 66256996 GA G 1020 PASS ARSG Del intronic 1 9 MSH6 child 17_66256996_GAG_MSH6 1 1 1 A 8 A Repeat-mediated db2ab278-3273-11e6-a279-106e671699ea 3_60874835_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 3 60874835 AT A 600 PASS FHIT Del intronic 1 8 EXO1 parent 3_60874835_ATA_EXO1 1 1 1 T 7 T Repeat-mediated db2d13d8-3287-11e6-9bc8-5079a178171f 15_92953798_TGCACGTAACGGGATGTAGAAAAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 15 92953798 TGCACGTAACGGGATGTAGAAAA T 480 PASS ST8SIA2 Del intronic 22 1 FANCC child 15_92953798_TGCACGTAACGGGATGTAGAAAAT_FANCC 22 >=10 2 GC 0 - Microhomology-mediated db2e8b12-3270-11e6-b923-6726694da5d2 5_99446309_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 99446309 AT A 360 PASS - Del - 1 8 MSH6 child 5_99446309_ATA_MSH6 1 1 1 T 7 T Repeat-mediated db2f0bc4-3288-11e6-8909-3ebb38e8a824 9_235005_GTG . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 9 235005 GT G 720 PASS DOCK8 Del intronic 1 7 NUDT1 parent 9_235005_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated db3724de-3275-11e6-8c64-8432c7271a47 3_105178838_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 3 105178838 GA G 660 PASS ALCAM Del intronic 1 6 MSH6 parent 3_105178838_GAG_MSH6 1 1 1 A 5 A Repeat-mediated db415f30-328e-11e6-9432-c0e56f39e758 5_19788402_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 19788402 CA C 420 PASS CDH18 Del intronic 1 7 MSH6 child 5_19788402_CAC_MSH6 1 1 1 A 6 A Repeat-mediated db47ac0a-328e-11e6-9c89-8d090e01a414 1_62449838_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 62449838 T TA 300 PASS INADL Ins intronic 1 1 MSH6 child 1_62449838_TTA_MSH6 1 1 - - - - Ins db4b8f7a-328c-11e6-ae53-96c36f39e758 15_71528623_GCG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 71528623 GC G 360 PASS THSD4 Del intronic 1 6 MSH6 child 15_71528623_GCG_MSH6 1 1 1 C 5 C Repeat-mediated db4f7dd4-3272-11e6-a5d0-4fd14a47a305 2_40208126_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 40208126 CT C 420 PASS - Del - 1 8 MSH6 child 2_40208126_CTC_MSH6 1 1 1 T 7 T Repeat-mediated db5defbe-3276-11e6-9bb2-e658c225ee11 20_60349569_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 20 60349569 AT A 660 PASS CDH4 Del intronic 1 8 EXO1 parent 20_60349569_ATA_EXO1 1 1 1 T 7 T Repeat-mediated db5e2d3a-3299-11e6-b723-b29fcc638e3d 19_2312866_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 2312866 GC G 600 PASS LINGO3 Del upstream 1 6 MSH6 child 19_2312866_GCG_MSH6 1 1 1 C 5 C Repeat-mediated db633ed2-326d-11e6-acc7-e55219a91649 1_120348731_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 120348731 CT C 420 PASS REG4 Del intronic 1 9 MSH6 child 1_120348731_CTC_MSH6 1 1 1 T 8 T Repeat-mediated db69e694-3289-11e6-b74f-549ba2c71c31 20_2089154_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 2089154 CA C 780 PASS STK35 Del intronic 1 9 MSH6 child 20_2089154_CAC_MSH6 1 1 1 A 8 A Repeat-mediated db740808-3299-11e6-ae71-0c5325c9da85 1_2194163_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 2194163 GT G 660 PASS SKI Del intronic 1 9 MSH6 child 1_2194163_GTG_MSH6 1 1 1 T 8 T Repeat-mediated db75ea7c-3287-11e6-a21c-b819bce6aa09 X_137547373_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 137547373 TC T 300 PASS - Del - 1 7 MSH6 child X_137547373_TCT_MSH6 1 1 1 C 6 C Repeat-mediated db7944f4-3293-11e6-8d91-0b8730158702 1_213967243_CTC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 1 213967243 CT C 600 PASS RP11-323I1.1 Del intronic 1 8 NUDT1 child 1_213967243_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated db7a20ca-3290-11e6-9230-fb250e01a414 3_192045499_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 192045499 CT C 300 PASS FGF12 Del intronic 1 7 MSH6 child 3_192045499_CTC_MSH6 1 1 1 T 6 T Repeat-mediated db7b88de-3254-11e6-bf41-357a7872c165 10_90623371_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 90623371 AC A 540 PASS - Del - 1 3 MSH6 child 10_90623371_ACA_MSH6 1 1 1 C 2 C Repeat-mediated db9360a2-3291-11e6-9401-04ed6f39e758 3_130906478_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 130906478 AT A 420 PASS NEK11 Del intronic 1 8 MSH6 child 3_130906478_ATA_MSH6 1 1 1 T 7 T Repeat-mediated db988bd2-3290-11e6-92cf-bf2a0e01a414 6_133025780_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 133025780 AT A 300 PASS VNN1 Del intronic 1 7 MSH6 child 6_133025780_ATA_MSH6 1 1 1 T 6 T Repeat-mediated db98a910-326c-11e6-9fba-41ebd8b4fa2c 11_12197028_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 12197028 CA C 360 PASS MICAL2 Del intronic 1 8 MSH6 child 11_12197028_CAC_MSH6 1 1 1 A 7 A Repeat-mediated dba4088a-3287-11e6-817a-6b15987b3f23 8_19343649_CCA . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 8 19343649 C CA 420 PASS CSGALNACT1 Ins intronic 1 7 NEIL1 parent 8_19343649_CCA_NEIL1 1 1 - - - - Ins dbb4cf0c-3292-11e6-9eb4-6cb54430f757 3_49931343_AAT . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 3 49931343 A AT 356 PASS MST1R Ins intronic 1 1 POLE child 3_49931343_AAT_POLE 1 1 - - - - Ins dbbc3a82-3321-11e6-aa01-c73272d7bc54 12_109215867_TTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCGTGGCTCACTGAGCAACACAGTGAGCAACATAGTGAGACCTCATTTACATACACACCCACAAAAAACTAGCTGGCTGTGGTGACACATCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCCCCAACCTTGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTTGCAGAGATAGGGTTTCACTGTGTTGTTCGGGTTAGTCTGGAACTCCTGGGTTCAAGCGAGATCTGCCCACCTTGGCCTCCCAAATCCTGGAATTACAGGCAAGAGCCACCGTGCCTGGCCATAAGTGTGTTTTGTTGTTATTGTTTTTAAGAAACAGAGTCTCTCTCT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 12 109215867 TTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCGTGGCTCACTGAGCAACACAGTGAGCAACATAGTGAGACCTCATTTACATACACACCCACAAAAAACTAGCTGGCTGTGGTGACACATCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCCCCAACCTTGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTTGCAGAGATAGGGTTTCACTGTGTTGTTCGGGTTAGTCTGGAACTCCTGGGTTCAAGCGAGATCTGCCCACCTTGGCCTCCCAAATCCTGGAATTACAGGCAAGAGCCACCGTGCCTGGCCATAAGTGTGTTTTGTTGTTATTGTTTTTAAGAAACAGAGTCTCTCTC T 300 PASS SSH1 Del intronic 390 1 EXO1 child 12_109215867_TTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCGTGGCTCACTGAGCAACACAGTGAGCAACATAGTGAGACCTCATTTACATACACACCCACAAAAAACTAGCTGGCTGTGGTGACACATCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCCCCAACCTTGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTTGCAGAGATAGGGTTTCACTGTGTTGTTCGGGTTAGTCTGGAACTCCTGGGTTCAAGCGAGATCTGCCCACCTTGGCCTCCCAAATCCTGGAATTACAGGCAAGAGCCACCGTGCCTGGCCATAAGTGTGTTTTGTTGTTATTGTTTTTAAGAAACAGAGTCTCTCTCT_EXO1 390 >=10 27 TGTCACCCAGGCTGGAGTGCAGTGGCG 0 - Microhomology-mediated dbbecb5c-3255-11e6-9d5a-0c8112ae24cf 9_1827864_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 1827864 AT A 360 PASS - Del - 1 1 MSH6 child 9_1827864_ATA_MSH6 1 1 0 - 0 T None dbcc645c-3286-11e6-a7ff-5779a178171f 10_78187563_TAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 10 78187563 TA T 300 PASS C10orf11 Del intronic 1 1 FANCC child 10_78187563_TAT_FANCC 1 1 0 - 0 A None dbce66fa-328e-11e6-b4fe-93c36f39e758 12_60049488_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 60049488 G GT 360 PASS SLC16A7 Ins intronic 1 6 MSH6 child 12_60049488_GGT_MSH6 1 1 - - - - Ins dbf34e3c-3272-11e6-aa3b-ca60a178171f 13_48179820_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 48179820 GA G 360 PASS - Del - 1 7 MSH6 child 13_48179820_GAG_MSH6 1 1 1 A 6 A Repeat-mediated dbf5e2f2-3270-11e6-9309-bdc34a47a305 8_70609311_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 70609311 TA T 300 PASS SLCO5A1 Del intronic 1 9 MSH6 child 8_70609311_TAT_MSH6 1 1 1 A 8 A Repeat-mediated dbfb3b36-329c-11e6-aca6-b39fcc638e3d 2_200312295_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 200312295 CA C 600 PASS SATB2 Del intronic 1 9 MSH6 child 2_200312295_CAC_MSH6 1 1 1 A 8 A Repeat-mediated dc01785e-328b-11e6-88c1-95c36f39e758 14_38952178_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 38952178 GA G 360 PASS - Del - 1 8 MSH6 child 14_38952178_GAG_MSH6 1 1 1 A 7 A Repeat-mediated dc017e24-3323-11e6-8ccd-5c056323ba5a 2_155988068_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 155988068 GA G 420 PASS - Del - 1 8 EXO1 child 2_155988068_GAG_EXO1 1 1 1 A 7 A Repeat-mediated dc04d1bc-3280-11e6-884f-bffbf121c733 19_36236213_ACA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 19 36236213 AC A 480 PASS PSENEN Del 5prime_UTR_variant 1 6 FANCC child 19_36236213_ACA_FANCC 1 1 1 C 5 C Repeat-mediated dc0e859a-3325-11e6-bd6e-9bc7cde16804 6_98471695_ACTA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 6 98471695 ACT A 660 PASS RP11-436D23.1 Del intronic 2 3 CHK2 child 6_98471695_ACTA_CHK2 2 2 2 CT 2 CT Repeat-mediated dc16385c-3277-11e6-909e-86e86de4ab00 3_33172757_CGC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 3 33172757 CG C 360 PASS CRTAP Del intronic 1 9 EXO1 child 3_33172757_CGC_EXO1 1 1 1 G 8 G Repeat-mediated dc17beb2-329e-11e6-91d0-016425c9da85 7_80954208_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 80954208 CT C 840 PASS - Del - 1 7 MSH6 child 7_80954208_CTC_MSH6 1 1 1 T 6 T Repeat-mediated dc1f4ebe-3287-11e6-a5b3-3f1ebce6aa09 7_132209335_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 132209335 CT C 420 PASS PLXNA4 Del intronic 1 8 MSH6 child 7_132209335_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dc21cf3e-3275-11e6-83cd-a472a178171f 4_56391642_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 56391642 TA T 360 PASS CLOCK Del intronic 1 7 MSH6 child 4_56391642_TAT_MSH6 1 1 1 A 6 A Repeat-mediated dc228cea-326f-11e6-819e-9d1aa20b69d5 11_88497056_TTAAATGT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 88497056 TTAAATG T 480 PASS GRM5 Del intronic 6 1 EXO1 parent 11_88497056_TTAAATGT_EXO1 6 6 5 TAAAT 0 - Microhomology-mediated dc293102-329d-11e6-91d0-016425c9da85 7_23619377_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 23619377 AT A 420 PASS - Del - 1 9 MSH6 child 7_23619377_ATA_MSH6 1 1 1 T 8 T Repeat-mediated dc30a19a-329c-11e6-94ca-0aaecc638e3d X_407077_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 407077 AC A 780 PASS - Del - 1 5 MSH6 child X_407077_ACA_MSH6 1 1 1 C 4 C Repeat-mediated dc3a5b08-3284-11e6-9daa-026ea2c71c31 14_68305934_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 68305934 CT C 420 PASS RAD51B Del intronic 1 7 MSH6 child 14_68305934_CTC_MSH6 1 1 1 T 6 T Repeat-mediated dc3f935a-3295-11e6-9985-7c540d016689 6_122187898_ACTA . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 122187898 ACT A 360 PASS - Del - 2 2 NUDT1 child 6_122187898_ACTA_NUDT1 2 2 2 CT 1 CT Repeat-mediated dc4106f6-3275-11e6-946d-9c2bc7271a47 2_80781002_ACATGAATT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 2 80781002 ACATG AATT 360 PASS CTNNA2 Complex intronic 4 0 POLB child 2_80781002_ACATGAATT_POLB 1 1 - - - - Complex dc430554-328a-11e6-b805-77090e01a414 2_105661507_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 105661507 GA G 300 PASS MRPS9 Del intronic 1 7 MSH6 child 2_105661507_GAG_MSH6 1 1 1 A 6 A Repeat-mediated dc455368-3271-11e6-8418-1c5942c4520d 3_179020402_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 179020402 CA C 480 PASS - Del - 1 5 MSH6 child 3_179020402_CAC_MSH6 1 1 1 A 4 A Repeat-mediated dc4b2d46-329f-11e6-91d0-016425c9da85 7_140209122_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 140209122 CA C 360 PASS - Del - 1 7 MSH6 child 7_140209122_CAC_MSH6 1 1 1 A 6 A Repeat-mediated dc4b4f00-3291-11e6-b77d-2eef6f39e758 6_92545952_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 92545952 TA T 360 PASS - Del - 1 9 MSH6 child 6_92545952_TAT_MSH6 1 1 1 A 8 A Repeat-mediated dc4b64d8-3299-11e6-b549-1e5325c9da85 10_2727081_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 2727081 GT G 720 PASS - Del - 1 6 MSH6 child 10_2727081_GTG_MSH6 1 1 1 T 5 T Repeat-mediated dc4c9206-3283-11e6-bab4-eb3afc1f1540 1_87789851_CCA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 1 87789851 C CA 300 PASS LMO4 Ins upstream 1 9 FANCC child 1_87789851_CCA_FANCC 1 1 - - - - Ins dc5073fc-3257-11e6-a7ac-209a7872c165 22_43229762_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 22 43229762 CA C 720 PASS ARFGAP3 Del intronic 1 8 MSH6 child 22_43229762_CAC_MSH6 1 1 1 A 7 A Repeat-mediated dc5e67a6-3328-11e6-9673-d7281daa6045 X_40977940_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA X 40977940 GA G 780 PASS USP9X Del intronic 1 8 EXO1 child X_40977940_GAG_EXO1 1 1 1 A 7 A Repeat-mediated dc64174e-329e-11e6-94ca-0aaecc638e3d X_74161636_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 74161636 GT G 660 PASS - Del - 1 9 MSH6 child X_74161636_GTG_MSH6 1 1 1 T 8 T Repeat-mediated dc6944d0-3258-11e6-a39a-dc8512ae24cf 8_74637097_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 74637097 AT A 480 PASS STAU2 Del intronic 1 6 MSH6 child 8_74637097_ATA_MSH6 1 1 1 T 5 T Repeat-mediated dc6a7d9c-3270-11e6-9d19-c216987b3f23 21_42296606_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 42296606 CA C 420 PASS - Del - 1 9 MSH6 child 21_42296606_CAC_MSH6 1 1 1 A 8 A Repeat-mediated dc72be1c-3289-11e6-8eee-76090e01a414 10_35605581_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 35605581 CA C 540 PASS CCNY Del intronic 1 8 MSH6 child 10_35605581_CAC_MSH6 1 1 1 A 7 A Repeat-mediated dc74e93a-3289-11e6-b74f-549ba2c71c31 20_2430509_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 2430509 TA T 780 PASS - Del - 1 8 MSH6 child 20_2430509_TAT_MSH6 1 1 1 A 7 A Repeat-mediated dc7b21ee-3273-11e6-8655-1dc619a91649 19_28437620_TTTCTTGCCT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 19 28437620 TTTCTTGCC T 540 PASS - Del - 8 1 EXO1 child 19_28437620_TTTCTTGCCT_EXO1 8 8 4 TTCT 0 - Microhomology-mediated dc84e1e8-3282-11e6-aa13-78428e4678dd 5_17802191_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 5 17802191 CT C 660 PASS RP11-454P21.1 Del intronic 1 9 EXO1 child 5_17802191_CTC_EXO1 1 1 1 T 8 T Repeat-mediated dc852da6-3291-11e6-a2c1-b9370d016689 12_24568356_GTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 12 24568356 GT G 300 PASS RP11-444D3.1 Del intronic 1 8 NUDT1 child 12_24568356_GTG_NUDT1 1 1 1 T 7 T Repeat-mediated dc86601e-3290-11e6-84a5-b1e2977b3f23 7_147364903_TAT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 7 147364903 TA T 300 PASS CNTNAP2 Del intronic 1 8 NEIL1 child 7_147364903_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated dc8f7146-3276-11e6-a2b7-2d8b671699ea 21_30568651_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 30568651 CT C 420 PASS BACH1 Del intronic 1 8 MSH6 child 21_30568651_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dc91a680-3291-11e6-8d18-13cc0d01a414 20_10581068_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 10581068 CT C 420 PASS SLX4IP Del intronic 1 7 MSH6 child 20_10581068_CTC_MSH6 1 1 1 T 6 T Repeat-mediated dc9faff0-3287-11e6-a21c-b819bce6aa09 X_138534938_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 138534938 CT C 360 PASS - Del - 1 9 MSH6 child X_138534938_CTC_MSH6 1 1 1 T 8 T Repeat-mediated dca190b8-32a0-11e6-aea7-956725c9da85 3_161924953_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 161924953 AT A 660 PASS - Del - 1 9 MSH6 child 3_161924953_ATA_MSH6 1 1 1 T 8 T Repeat-mediated dca8d3b2-328e-11e6-9d97-efe56f39e758 4_16667382_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 16667382 GA G 720 PASS LDB2 Del intronic 1 9 MSH6 child 4_16667382_GAG_MSH6 1 1 1 A 8 A Repeat-mediated dcae44bc-326d-11e6-9fba-41ebd8b4fa2c 11_49452709_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 49452709 CA C 288 PASS - Del - 1 8 MSH6 child 11_49452709_CAC_MSH6 1 1 1 A 7 A Repeat-mediated dcb0b302-328e-11e6-9230-fb250e01a414 3_60092083_ATCTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 60092083 ATCT A 1020 PASS FHIT Del intronic 3 2 MSH6 child 3_60092083_ATCTA_MSH6 3 3 3 TCT 1 TCT Repeat-mediated dcb94d94-3277-11e6-9484-e5b5cc638e3d 6_9547173_GTG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 6 9547173 GT G 360 PASS - Del - 1 2 EXO1 child 6_9547173_GTG_EXO1 1 1 1 T 1 T Repeat-mediated dcd03240-3257-11e6-8cd9-139b7872c165 3_24114569_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 24114569 AT A 600 PASS - Del - 1 7 MSH6 child 3_24114569_ATA_MSH6 1 1 1 T 6 T Repeat-mediated dcd25716-32a0-11e6-bc66-17b4cc638e3d 8_139057705_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 139057705 CT C 280 PASS RP11-238K6.1 Del intronic 1 7 MSH6 child 8_139057705_CTC_MSH6 1 1 1 T 6 T Repeat-mediated dcd2b102-3278-11e6-9972-dabcecf1e924 3_115817601_ATA . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 3 115817601 AT A 720 PASS LSAMP Del intronic 1 9 NEIL1 child 3_115817601_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated dcd3f5d8-3284-11e6-99f7-076ea2c71c31 12_43227176_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 43227176 GT G 420 PASS - Del - 1 7 MSH6 child 12_43227176_GTG_MSH6 1 1 1 T 6 T Repeat-mediated dcd5453c-3270-11e6-b5b8-e0c24a47a305 X_93285851_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 93285851 AT A 480 PASS - Del - 1 9 MSH6 child X_93285851_ATA_MSH6 1 1 1 T 8 T Repeat-mediated dce765c8-3289-11e6-a32d-75090e01a414 14_57219088_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 57219088 CT C 480 PASS - Del - 1 8 MSH6 child 14_57219088_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dce8cffa-326e-11e6-acf0-009e38e8a824 13_30745286_CCTAAATTACTGCTGTTTCTGGGAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 13 30745286 CCTAAATTACTGCTGTTTCTGGGA C 480 PASS - Del - 23 1 NEIL1 child 13_30745286_CCTAAATTACTGCTGTTTCTGGGAC_NEIL1 23 >=10 4 CTAA 0 - Microhomology-mediated dceae37a-326f-11e6-8a0d-fc4238e8a824 1_96105781_ACA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 1 96105781 AC A 660 PASS RP11-286B14.1 Del intronic 1 4 POLM child 1_96105781_ACA_POLM 1 1 1 C 3 C Repeat-mediated dceb2fc0-3278-11e6-9d67-093b98ba1142 4_173040928_CCTC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 4 173040928 CCT C 540 PASS GALNTL6 Del intronic 2 2 POLM child 4_173040928_CCTC_POLM 2 2 2 CT 1 CT Repeat-mediated dcedca08-3284-11e6-90da-f3a469062303 6_34349293_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 34349293 CA C 480 PASS NUDT3 Del intronic 1 9 FANCC child 6_34349293_CAC_FANCC 1 1 1 A 8 A Repeat-mediated dceef24a-3255-11e6-8a2a-3af212ae24cf 16_53798642_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 53798642 A AT 420 PASS FTO Ins intronic 1 8 MSH6 child 16_53798642_AAT_MSH6 1 1 - - - - Ins dceff27a-3283-11e6-9911-40af90e2c2e6 20_29990862_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 20 29990862 TA T 600 PASS DEFB121 Del downstream 1 9 NUDT1 child 20_29990862_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated dcf26088-3291-11e6-9413-6a7219a91649 5_92287044_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 92287044 CT C 480 PASS - Del - 1 7 NEIL1 child 5_92287044_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated dcf5d982-3284-11e6-a8af-066ea2c71c31 15_52126410_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 52126410 GT G 600 PASS TMOD3 Del intronic 1 9 MSH6 child 15_52126410_GTG_MSH6 1 1 1 T 8 T Repeat-mediated dcfda6de-3285-11e6-86e9-d4770d016689 X_49747142_GGAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 49747142 GGA G 480 PASS CLCN5 Del intronic 2 4 EXO1 child X_49747142_GGAG_EXO1 2 2 2 GA 3 GA Repeat-mediated dcfdb908-328a-11e6-b805-77090e01a414 2_105856843_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 105856843 CT C 420 PASS GPR45 Del upstream 1 9 MSH6 child 2_105856843_CTC_MSH6 1 1 1 T 8 T Repeat-mediated dd00c728-3272-11e6-b337-78fbd8b4fa2c 2_171202817_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 2 171202817 AT A 360 PASS MYO3B Del intronic 1 9 POLB child 2_171202817_ATA_POLB 1 1 1 T 8 T Repeat-mediated dd0ce4d4-3274-11e6-865b-486635761512 18_5125177_CAC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 18 5125177 CA C 660 PASS - Del - 1 7 POLM child 18_5125177_CAC_POLM 1 1 1 A 6 A Repeat-mediated dd170938-328c-11e6-8621-65d8191589db 4_62326331_CGAGACTGGGTAATATATAAAGAAAAAGGGGTTTAGTATACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGCAAAGGAGGAGAAAGGCATATCTTTCATGGCAGCAGGCAAGAGAGAAGCCAAGCAAAAGGGGAAACCCTTTATAAAACCATCAGATCGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 62326331 CGAGACTGGGTAATATATAAAGAAAAAGGGGTTTAGTATACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGCAAAGGAGGAGAAAGGCATATCTTTCATGGCAGCAGGCAAGAGAGAAGCCAAGCAAAAGGGGAAACCCTTTATAAAACCATCAGATCGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGG C 300 PASS LPHN3 Del intronic 383 1 FANCC child 4_62326331_CGAGACTGGGTAATATATAAAGAAAAAGGGGTTTAGTATACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGCAAAGGAGGAGAAAGGCATATCTTTCATGGCAGCAGGCAAGAGAGAAGCCAAGCAAAAGGGGAAACCCTTTATAAAACCATCAGATCGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGC_FANCC 383 >=10 3 GAG 0 - Microhomology-mediated dd1e6d66-3324-11e6-ba0a-ab9864f80bad 5_80308102_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 5 80308102 AT A 480 PASS RASGRF2 Del intronic 1 9 EXO1 child 5_80308102_ATA_EXO1 1 1 1 T 8 T Repeat-mediated dd20bdba-3274-11e6-bfb2-2749c225ee11 12_21805809_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 21805809 A AT 540 PASS LDHB Ins intronic 1 6 MSH6 child 12_21805809_AAT_MSH6 1 1 - - - - Ins dd260b50-327c-11e6-a360-ea8590e2c2e6 11_58000873_CAC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 11 58000873 CA C 540 PASS OR10Q1 Del upstream 1 7 NUDT1 child 11_58000873_CAC_NUDT1 1 1 1 A 6 A Repeat-mediated dd2aefc6-329a-11e6-b723-b29fcc638e3d 19_38864391_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 19 38864391 AT A 480 PASS CATSPERG Del downstream 1 8 MSH6 child 19_38864391_ATA_MSH6 1 1 1 T 7 T Repeat-mediated dd33f87c-3287-11e6-940d-53a538e8a824 2_67016489_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 2 67016489 CT C 540 PASS - Del - 1 9 NUDT1 parent 2_67016489_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated dd35045e-3293-11e6-83fc-8f4c0d016689 4_47662102_GAG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 4 47662102 GA G 480 PASS CORIN Del intronic 1 3 NUDT1 child 4_47662102_GAG_NUDT1 1 1 1 A 2 A Repeat-mediated dd35bc56-329c-11e6-b129-195325c9da85 16_60358923_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 60358923 G GA 600 PASS - Ins - 1 6 MSH6 child 16_60358923_GGA_MSH6 1 1 - - - - Ins dd38043c-3285-11e6-be43-0a6ea2c71c31 10_125220167_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 125220167 TA T 480 PASS RP11-282I1.1 Del intronic 1 5 MSH6 child 10_125220167_TAT_MSH6 1 1 1 A 4 A Repeat-mediated dd41ff68-3321-11e6-94fd-ff28038949d4 15_86248686_GAG . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 15 86248686 GA G 780 PASS AKAP13 Del intronic 1 8 CHK2 parent 15_86248686_GAG_CHK2 1 1 1 A 7 A Repeat-mediated dd4b9e0c-334d-11e6-9c63-4b9e38e8a824 8_131916534_CCT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 8 131916534 C CT 360 PASS ADCY8 Ins intronic 1 0 FANCC child 8_131916534_CCT_FANCC 1 1 - - - - Ins dd4e84fa-328f-11e6-b10a-17a5e7d0bdd7 1_188068685_ATATATCA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 1 188068685 ATATATC A 300 PASS - Del - 6 1 FANCC child 1_188068685_ATATATCA_FANCC 6 6 3 TAT 0 - Microhomology-mediated dd4eb144-3287-11e6-a284-4b89a2c71c31 4_123541669_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 123541669 AT A 420 PASS IL21 Del intronic 1 6 MSH6 child 4_123541669_ATA_MSH6 1 1 1 T 5 T Repeat-mediated dd4fcc9e-328e-11e6-8f31-bfe16f39e758 9_83343541_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 83343541 TA T 362 PASS - Del - 1 6 MSH6 child 9_83343541_TAT_MSH6 1 1 1 A 5 A Repeat-mediated dd58e926-3277-11e6-a47c-77abeab8d062 5_116905060_CTC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 5 116905060 CT C 420 PASS - Del - 1 8 EXO1 child 5_116905060_CTC_EXO1 1 1 1 T 7 T Repeat-mediated dd5ae630-3273-11e6-90ac-b4c37872c165 8_68522568_TCCAGACTCT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 8 68522568 TCCAGACTC T 780 PASS CPA6 Del intronic 8 1 NEIL1 child 8_68522568_TCCAGACTCT_NEIL1 8 8 1 C 0 - Microhomology-mediated dd715eea-3284-11e6-9daa-026ea2c71c31 14_68929956_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 68929956 CA C 720 PASS RAD51B Del intronic 1 7 MSH6 child 14_68929956_CAC_MSH6 1 1 1 A 6 A Repeat-mediated dd72c990-3272-11e6-ad8b-494f3cfdbd24 7_71681398_TTAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 7 71681398 TTA T 540 PASS CALN1 Del intronic 2 1 POLM child 7_71681398_TTAT_POLM 2 2 0 - 0 - None dd76b8c6-3285-11e6-8dac-d9fc137bb207 5_155737793_AAGA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 5 155737793 AAG A 420 PASS SGCD Del intronic 2 7 FANCC child 5_155737793_AAGA_FANCC 2 2 2 AG 6 AG Repeat-mediated dd77779e-3275-11e6-8cf1-8b341daa6045 16_73818028_GAG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 16 73818028 GA G 600 PASS - Del - 1 9 POLM child 16_73818028_GAG_POLM 1 1 1 A 8 A Repeat-mediated dd7d7462-3286-11e6-8b67-086ea2c71c31 1_221269771_GTTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 221269771 GTT G 480 PASS - Del - 2 7 MSH6 child 1_221269771_GTTG_MSH6 2 2 2 TT 5 T Repeat-mediated dd8cd4cc-328e-11e6-9217-1ba5e7d0bdd7 10_107909449_CTAATTTATTTAAAAATCCTTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 10 107909449 CTAATTTATTTAAAAATCCTT C 360 PASS RP11-298H24.1 Del intronic 20 1 FANCC child 10_107909449_CTAATTTATTTAAAAATCCTTC_FANCC 20 >=10 1 T 0 - Microhomology-mediated dd9495ac-3272-11e6-a5d0-4fd14a47a305 2_41047728_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 41047728 TA T 360 PASS - Del - 1 8 MSH6 child 2_41047728_TAT_MSH6 1 1 1 A 7 A Repeat-mediated dd968112-328d-11e6-b6a6-1f1e0e01a414 4_85181361_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 85181361 AT A 360 PASS RP11-8L2.1 Del intronic 1 8 MSH6 child 4_85181361_ATA_MSH6 1 1 1 T 7 T Repeat-mediated dd97cae2-3254-11e6-89d3-d29498816cf3 2_148167513_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 148167513 CT C 360 PASS RNU6-692P Del downstream 1 9 MSH6 child 2_148167513_CTC_MSH6 1 1 1 T 8 T Repeat-mediated dd97fec0-3292-11e6-9280-9ce5d0959d89 11_41455860_CTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 11 41455860 CT C 420 PASS LRRC4C Del intronic 1 7 POLB child 11_41455860_CTC_POLB 1 1 1 T 6 T Repeat-mediated dd9833d8-3286-11e6-b32c-fd87a2c71c31 5_66737494_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 66737494 GA G 480 PASS RP11-434D9.1 Del intronic 1 8 MSH6 child 5_66737494_GAG_MSH6 1 1 1 A 7 A Repeat-mediated ddaaff02-326f-11e6-be21-a41225c9da85 12_93854494_ATA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 12 93854494 AT A 360 PASS - Del - 1 9 POLM child 12_93854494_ATA_POLM 1 1 1 T 8 T Repeat-mediated ddad5e92-326e-11e6-9fba-41ebd8b4fa2c 11_83413199_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 83413199 CT C 660 PASS DLG2 Del intronic 1 9 MSH6 child 11_83413199_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ddafd9fa-3283-11e6-9955-19979cdf095d 8_17181527_CCTTC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 8 17181527 CCTT C 600 PASS MTMR7 Del intronic 3 2 POLE child 8_17181527_CCTTC_POLE 3 3 3 CTT 1 CTT Repeat-mediated ddc958fa-3286-11e6-b84c-a2a0fc1f1540 1_172394734_ATGTA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 172394734 ATGT A 660 PASS C1orf105 Del intronic 3 1 FANCC child 1_172394734_ATGTA_FANCC 3 3 2 TG 0 - Microhomology-mediated ddd0a462-3258-11e6-9d5a-0c8112ae24cf 9_94129185_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 94129185 T TA 480 PASS AUH Ins upstream 1 9 MSH6 child 9_94129185_TTA_MSH6 1 1 - - - - Ins ddd24b6a-3270-11e6-8418-1c5942c4520d 3_83736954_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 83736954 GT G 300 PASS - Del - 1 8 MSH6 child 3_83736954_GTG_MSH6 1 1 1 T 7 T Repeat-mediated ddd354fc-3283-11e6-9607-56b01ac527ab 4_127620635_GAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 127620635 GA G 300 PASS - Del - 1 7 FANCC child 4_127620635_GAG_FANCC 1 1 1 A 6 A Repeat-mediated ddd35d44-328d-11e6-8c87-38240e01a414 22_30486188_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 30486188 CA C 360 PASS HORMAD2 Del intronic 1 6 MSH6 child 22_30486188_CAC_MSH6 1 1 1 A 5 A Repeat-mediated ddd46898-3291-11e6-8d18-13cc0d01a414 20_11046552_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 11046552 CT C 360 PASS - Del - 1 8 MSH6 child 20_11046552_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dddd7d8a-328b-11e6-a7cf-80090e01a414 15_99461285_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 99461285 AT A 900 PASS IGF1R Del intronic 1 9 MSH6 child 15_99461285_ATA_MSH6 1 1 1 T 8 T Repeat-mediated dde65626-3272-11e6-83ef-69fb06e9a829 18_34340163_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 34340163 TA T 720 PASS FHOD3 Del intronic 1 7 MSH6 child 18_34340163_TAT_MSH6 1 1 1 A 6 A Repeat-mediated dde739f2-328a-11e6-b805-77090e01a414 2_106087928_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 106087928 CT C 360 PASS - Del - 1 6 MSH6 child 2_106087928_CTC_MSH6 1 1 1 T 5 T Repeat-mediated ddef7512-328b-11e6-8fd1-f2ac12ae24cf X_10976813_TAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA X 10976813 TA T 420 PASS RP11-120D5.1 Del intronic 1 9 CHK2 child X_10976813_TAT_CHK2 1 1 1 A 8 A Repeat-mediated ddf66cc2-32a0-11e6-94ca-0aaecc638e3d X_73680497_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 73680497 G GT 540 PASS SLC16A2 Ins intronic 1 5 MSH6 child X_73680497_GGT_MSH6 1 1 - - - - Ins ddf7c5b0-3320-11e6-bda0-2f6519a91649 12_44423064_CCTTC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 12 44423064 CCTT C 296 PASS TMEM117 Del intronic 3 1 CHK2 child 12_44423064_CCTTC_CHK2 3 3 2 CT 0 - Microhomology-mediated ddfc230e-3293-11e6-a82e-cff0eff7a29c 20_3055009_AGA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 20 3055009 AG A 600 PASS OXT Del downstream 1 6 NEIL1 child 20_3055009_AGA_NEIL1 1 1 1 G 5 G Repeat-mediated ddfec3ea-3278-11e6-b7b5-ce91a78019ab 5_170596989_TAT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 5 170596989 TA T 360 PASS RANBP17 Del intronic 1 6 NEIL1 child 5_170596989_TAT_NEIL1 1 1 1 A 5 A Repeat-mediated de04b0e8-3273-11e6-bea5-e783a20b69d5 13_104621314_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 104621314 AT A 300 PASS - Del - 1 9 EXO1 child 13_104621314_ATA_EXO1 1 1 1 T 8 T Repeat-mediated de0d370c-3324-11e6-aad6-fc2b9a696edf 9_73881256_CAC . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 9 73881256 CA C 540 PASS TRPM3 Del intronic 1 9 EXO1 child 9_73881256_CAC_EXO1 1 1 1 A 8 A Repeat-mediated de0e011c-3254-11e6-8ebc-3ef212ae24cf 15_71040575_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 15 71040575 CA C 360 PASS UACA Del intronic 1 9 MSH6 child 15_71040575_CAC_MSH6 1 1 1 A 8 A Repeat-mediated de106bec-328a-11e6-a7cf-80090e01a414 15_73676662_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 73676662 AT A 300 PASS - Del - 1 9 MSH6 child 15_73676662_ATA_MSH6 1 1 1 T 8 T Repeat-mediated de1564b4-3346-11e6-b0ff-c495e84777f6 10_94363651_GTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 10 94363651 GT G 388 PASS KIF11 Del intronic 1 7 FANCC child 10_94363651_GTG_FANCC 1 1 1 T 6 T Repeat-mediated de157368-3284-11e6-9daa-026ea2c71c31 14_69255946_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 69255946 GA G 660 PASS ZFP36L1 Del 3prime_UTR_variant 1 9 MSH6 child 14_69255946_GAG_MSH6 1 1 1 A 8 A Repeat-mediated de1d9a44-3274-11e6-a93d-2de179852e0e 22_21417768_ATCACTTTAGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 22 21417768 ATCACTTTAG A 300 PASS AC002472.13 Del 3prime_UTR_variant 9 1 FANCC child 22_21417768_ATCACTTTAGA_FANCC 9 9 2 TC 0 - Microhomology-mediated de236536-327f-11e6-a2c9-149290e2c2e6 3_12499129_TCCAGCCTGGGCAACAGAGTAAGATCTTGTCTCAAAAAAATAAATACATTGACTGGGCGTGGTGGCTCACACCCGTAATACCAGTACTTTGGGAGGCCAAGGCAGGCAGATCAAGGGAGGCCAACATGGTGAAACGCCATCTCTACTAAAAATACAAAAATTAACTGGGCGTGGTGGTGCATGCCCGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACATGGAAGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACCT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 3 12499129 TCCAGCCTGGGCAACAGAGTAAGATCTTGTCTCAAAAAAATAAATACATTGACTGGGCGTGGTGGCTCACACCCGTAATACCAGTACTTTGGGAGGCCAAGGCAGGCAGATCAAGGGAGGCCAACATGGTGAAACGCCATCTCTACTAAAAATACAAAAATTAACTGGGCGTGGTGGTGCATGCCCGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACATGGAAGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACC T 300 PASS - Del - 275 1 NUDT1 child 3_12499129_TCCAGCCTGGGCAACAGAGTAAGATCTTGTCTCAAAAAAATAAATACATTGACTGGGCGTGGTGGCTCACACCCGTAATACCAGTACTTTGGGAGGCCAAGGCAGGCAGATCAAGGGAGGCCAACATGGTGAAACGCCATCTCTACTAAAAATACAAAAATTAACTGGGCGTGGTGGTGCATGCCCGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACATGGAAGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACCT_NUDT1 275 >=10 18 CCAGCCTGGGCAACAGAG 0 - Microhomology-mediated de2747f2-3273-11e6-8418-1c5942c4520d 3_170779954_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 170779954 G GT 420 PASS TNIK Ins 3prime_UTR_variant 1 7 MSH6 child 3_170779954_GGT_MSH6 1 1 - - - - Ins de283188-3275-11e6-b562-fe54dcd214c4 5_127039273_TAT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 5 127039273 TA T 480 PASS CTC-228N24.1 Del intronic 1 9 NUDT1 child 5_127039273_TAT_NUDT1 1 1 1 A 8 A Repeat-mediated de2d5882-3326-11e6-91f6-970e147bb207 6_62904229_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 62904229 AT A 360 PASS KHDRBS2 Del intronic 1 7 EXO1 child 6_62904229_ATA_EXO1 1 1 1 T 6 T Repeat-mediated de44c49a-3272-11e6-9e18-3a69671699ea 10_32029927_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 32029927 CA C 600 PASS - Del - 1 3 MSH6 child 10_32029927_CAC_MSH6 1 1 1 A 2 A Repeat-mediated de4c62fa-329e-11e6-bc2c-2a5e25c9da85 4_128888943_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 128888943 AT A 600 PASS MFSD8 Del upstream 1 9 MSH6 child 4_128888943_ATA_MSH6 1 1 1 T 8 T Repeat-mediated de5bc21e-328e-11e6-abfb-afb14430f757 9_34105666_CAC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 9 34105666 CA C 472 PASS DCAF12 Del intronic 1 8 POLE child 9_34105666_CAC_POLE 1 1 1 A 7 A Repeat-mediated de63a5b4-3271-11e6-881e-8d938a20d9eb 15_68733191_CTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 15 68733191 CT C 720 PASS - Del - 1 4 CHK2 child 15_68733191_CTC_CHK2 1 1 1 T 3 T Repeat-mediated de6c3d00-326c-11e6-9003-ae204b47a305 19_9414660_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 9414660 CT C 300 PASS ZNF699 Del intronic 1 8 MSH6 child 19_9414660_CTC_MSH6 1 1 1 T 7 T Repeat-mediated de7bd670-326c-11e6-9003-ae204b47a305 19_9436125_AGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 9436125 AG A 480 PASS ZNF559 Del intronic 1 1 MSH6 child 19_9436125_AGA_MSH6 1 1 0 - 0 G None de7c3eba-3291-11e6-b0cf-8b7219a91649 7_88770149_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 88770149 AT A 420 PASS ZNF804B Del intronic 1 9 NEIL1 child 7_88770149_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated de84235e-328d-11e6-a927-37059c6d3b88 14_62510383_CCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTTGATGTTGAAGTTTTTAAAATTGATTTTCCACATCTATTGAGATGATTATATGTTTTTCATCCCTAACCTGTCAATGAGATTAATTATATTTAAGAGACTTTCATAATACTTAAACTTCTTTGCATGACTGCTACAAACTGTTTTTGTAGAGACAGAATCTTGCTATGTTACTGAGGCTAGTTTAGAACTCCTGGCCTCAAGCAATCCTCCTACCTCGGCCTCTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 14 62510383 CCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTTGATGTTGAAGTTTTTAAAATTGATTTTCCACATCTATTGAGATGATTATATGTTTTTCATCCCTAACCTGTCAATGAGATTAATTATATTTAAGAGACTTTCATAATACTTAAACTTCTTTGCATGACTGCTACAAACTGTTTTTGTAGAGACAGAATCTTGCTATGTTACTGAGGCTAGTTTAGAACTCCTGGCCTCAAGCAATCCTCCTACCTCGGCCTCT C 300 PASS SYT16 Del intronic 266 1 POLB child 14_62510383_CCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTTGATGTTGAAGTTTTTAAAATTGATTTTCCACATCTATTGAGATGATTATATGTTTTTCATCCCTAACCTGTCAATGAGATTAATTATATTTAAGAGACTTTCATAATACTTAAACTTCTTTGCATGACTGCTACAAACTGTTTTTGTAGAGACAGAATCTTGCTATGTTACTGAGGCTAGTTTAGAACTCCTGGCCTCAAGCAATCCTCCTACCTCGGCCTCTC_POLB 266 >=10 25 CAAAGTGCTGGGATTACAGGCATGA 0 - Microhomology-mediated de89e9da-3254-11e6-89d3-d29498816cf3 2_148563676_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 148563676 CA C 660 PASS - Del - 1 8 MSH6 child 2_148563676_CAC_MSH6 1 1 1 A 7 A Repeat-mediated de8a70bc-3286-11e6-b282-3612147bb207 6_93270794_ATTCTGGA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 6 93270794 ATTCTGG A 720 PASS - Del - 6 1 FANCC child 6_93270794_ATTCTGGA_FANCC 6 6 2 TT 0 - Microhomology-mediated de8e332a-3284-11e6-99f7-076ea2c71c31 12_43920679_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 43920679 CA C 480 PASS ADAMTS20 Del intronic 1 9 MSH6 child 12_43920679_CAC_MSH6 1 1 1 A 8 A Repeat-mediated de960e1e-328f-11e6-9d24-ade56f39e758 7_83428581_AATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 83428581 AAT A 360 PASS - Del - 2 1 MSH6 child 7_83428581_AATA_MSH6 2 2 1 A 0 - Microhomology-mediated de962c82-328f-11e6-b97d-a8b305ad5bc4 20_36097082_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 36097082 TA T 480 PASS - Del - 1 8 MSH6 child 20_36097082_TAT_MSH6 1 1 1 A 7 A Repeat-mediated dea29dba-3289-11e6-821d-8c090e01a414 13_52234341_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 52234341 GT G 420 PASS WDFY2 Del intronic 1 9 MSH6 child 13_52234341_GTG_MSH6 1 1 1 T 8 T Repeat-mediated debcaadc-3272-11e6-a5d0-4fd14a47a305 2_41952099_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 41952099 GT G 660 PASS - Del - 1 6 MSH6 child 2_41952099_GTG_MSH6 1 1 1 T 5 T Repeat-mediated dec1d24e-3256-11e6-91d3-a68412ae24cf 7_25952188_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 25952188 AC A 300 PASS - Del - 1 1 MSH6 child 7_25952188_ACA_MSH6 1 1 0 - 0 C None deca053c-327d-11e6-9c0f-26bd1da8ec0e 8_57870462_CAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 8 57870462 CA C 780 PASS IMPAD1 Del downstream 1 8 FANCC parent 8_57870462_CAC_FANCC 1 1 1 A 7 A Repeat-mediated ded15180-329f-11e6-b696-dd6225c9da85 5_179645473_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 179645473 AT A 600 PASS - Del - 1 6 MSH6 child 5_179645473_ATA_MSH6 1 1 1 T 5 T Repeat-mediated ded2579c-3286-11e6-a284-4b89a2c71c31 4_29778759_CCAGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 29778759 CCAG C 720 PASS - Del - 3 1 MSH6 child 4_29778759_CCAGC_MSH6 3 3 2 CA 0 - Microhomology-mediated dedbe2a2-328c-11e6-8256-94c36f39e758 17_67138432_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 67138432 AT A 480 PASS ABCA6 Del upstream 1 8 MSH6 child 17_67138432_ATA_MSH6 1 1 1 T 7 T Repeat-mediated dee295b8-3285-11e6-8c64-b1af90e2c2e6 17_41338998_CCGTTTGCAT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 17 41338998 C CGTTTGCAT 620 PASS NBR1 Ins intronic 8 0 POLE child 17_41338998_CCGTTTGCAT_POLE 8 8 - - - - Ins dee2ac38-3299-11e6-bda6-065325c9da85 13_21869709_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 21869709 CA C 360 PASS RP11-101P17.11 Del downstream 1 7 MSH6 child 13_21869709_CAC_MSH6 1 1 1 A 6 A Repeat-mediated deea5324-329f-11e6-91d0-016425c9da85 7_140576716_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 140576716 TA T 660 PASS BRAF Del intronic 1 9 MSH6 child 7_140576716_TAT_MSH6 1 1 1 A 8 A Repeat-mediated deed0760-3275-11e6-a862-bc9becf1e924 1_234595732_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 234595732 TA T 840 PASS TARBP1 Del intronic 1 8 MSH6 child 1_234595732_TAT_MSH6 1 1 1 A 7 A Repeat-mediated deefd124-3271-11e6-8165-0dc17872c165 9_92307130_AAGA . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 9 92307130 AAG A 420 PASS - Del - 2 3 NEIL1 child 9_92307130_AAGA_NEIL1 2 2 2 AG 2 AG Repeat-mediated def0476c-3285-11e6-afcf-0311bce6aa09 9_3833902_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 3833902 GT G 780 PASS GLIS3 Del intronic 1 8 MSH6 child 9_3833902_GTG_MSH6 1 1 1 T 7 T Repeat-mediated def73562-3286-11e6-baa3-81ed1da8ec0e X_121907089_TTA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 121907089 T TA 420 PASS - Ins - 1 6 EXO1 child X_121907089_TTA_EXO1 1 1 - - - - Ins def766ae-3272-11e6-aa3b-ca60a178171f 13_49050462_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 49050462 CA C 900 PASS RB1 Del intronic 1 7 MSH6 child 13_49050462_CAC_MSH6 1 1 1 A 6 A Repeat-mediated df16421c-328c-11e6-8e48-791e0e01a414 8_24721917_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 24721917 CA C 540 PASS - Del - 1 8 MSH6 child 8_24721917_CAC_MSH6 1 1 1 A 7 A Repeat-mediated df1c9168-3286-11e6-a284-4b89a2c71c31 4_30007407_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 30007407 GT G 360 PASS - Del - 1 9 MSH6 child 4_30007407_GTG_MSH6 1 1 1 T 8 T Repeat-mediated df221f44-3271-11e6-abaf-4642cab49462 6_23521934_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 23521934 CA C 300 PASS - Del - 1 9 MSH6 child 6_23521934_CAC_MSH6 1 1 1 A 8 A Repeat-mediated df39a5ba-329e-11e6-91d0-016425c9da85 7_81836219_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 81836219 CT C 1200 PASS CACNA2D1 Del intronic 1 7 MSH6 child 7_81836219_CTC_MSH6 1 1 1 T 6 T Repeat-mediated df4195b8-3285-11e6-99f7-076ea2c71c31 12_123101931_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 123101931 CT C 720 PASS KNTC1 Del intronic 1 8 MSH6 child 12_123101931_CTC_MSH6 1 1 1 T 7 T Repeat-mediated df441416-3274-11e6-90fa-056466a58581 4_81855314_CTC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 81855314 CT C 300 PASS C4orf22 Del intronic 1 8 FANCC child 4_81855314_CTC_FANCC 1 1 1 T 7 T Repeat-mediated df516c3c-329d-11e6-ae71-0c5325c9da85 1_234006373_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 234006373 GA G 540 PASS - Del - 1 8 MSH6 child 1_234006373_GAG_MSH6 1 1 1 A 7 A Repeat-mediated df51c91e-3272-11e6-9522-b51a987b3f23 12_89306418_GGTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 12 89306418 GGT G 360 PASS - Del - 2 3 NUDT1 child 12_89306418_GGTG_NUDT1 2 2 2 GT 2 GT Repeat-mediated df53e6c2-3286-11e6-a284-4b89a2c71c31 4_30177205_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 30177205 GA G 300 PASS - Del - 1 4 MSH6 child 4_30177205_GAG_MSH6 1 1 1 A 3 A Repeat-mediated df58efd2-3286-11e6-8404-8e1fbce6aa09 8_34243580_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 34243580 AC A 840 PASS - Del - 1 3 MSH6 child 8_34243580_ACA_MSH6 1 1 1 C 2 C Repeat-mediated df5bd7e2-3272-11e6-83ef-69fb06e9a829 18_34640615_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 34640615 TA T 480 PASS KIAA1328 Del intronic 1 9 MSH6 child 18_34640615_TAT_MSH6 1 1 1 A 8 A Repeat-mediated df64e232-328c-11e6-b805-77090e01a414 2_236406912_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 236406912 TC T 660 PASS AGAP1 Del intronic 1 5 MSH6 child 2_236406912_TCT_MSH6 1 1 1 C 4 C Repeat-mediated df6e0acc-3270-11e6-b923-6726694da5d2 5_101182165_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 101182165 GA G 300 PASS - Del - 1 6 MSH6 child 5_101182165_GAG_MSH6 1 1 1 A 5 A Repeat-mediated df6fb3da-3299-11e6-b74d-b59fcc638e3d 18_2616032_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 2616032 CT C 900 PASS NDC80 Del intronic 1 9 MSH6 child 18_2616032_CTC_MSH6 1 1 1 T 8 T Repeat-mediated df7312ee-328c-11e6-9777-62d8191589db 5_65813252_GCTGTTTATG . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 5 65813252 GCTGTTTAT G 420 PASS - Del - 8 1 FANCC child 5_65813252_GCTGTTTATG_FANCC 8 8 3 CTG 0 - Microhomology-mediated df74453e-3272-11e6-abaf-4642cab49462 6_89008371_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 89008371 GA G 300 PASS RP11-459O1.2 Del downstream 1 8 MSH6 child 6_89008371_GAG_MSH6 1 1 1 A 7 A Repeat-mediated df7b34ba-3273-11e6-975f-8246cab49462 16_86665421_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 86665421 AT A 360 PASS RP11-463O9.6 Del downstream 1 8 MSH6 child 16_86665421_ATA_MSH6 1 1 1 T 7 T Repeat-mediated df85e5ba-3294-11e6-8b9f-eea73adbad45 3_164742171_CCA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 164742171 C CA 300 PASS SI Ins intronic 1 1 NEIL1 child 3_164742171_CCA_NEIL1 1 1 - - - - Ins df87c2e6-328e-11e6-92db-6c56f0f7a29c 1_36601012_CGGAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 1 36601012 CGGA C 720 PASS TRAPPC3 Del downstream 3 2 NEIL1 child 1_36601012_CGGAC_NEIL1 3 3 3 GGA 1 GGA Repeat-mediated df8cce84-328a-11e6-a80b-87090e01a414 11_99913108_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 99913108 CT C 540 PASS CNTN5 Del intronic 1 8 MSH6 child 11_99913108_CTC_MSH6 1 1 1 T 7 T Repeat-mediated df958f9c-3276-11e6-998e-ba48fa52e078 8_86439483_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 86439483 TA T 300 PASS RP11-317J10.4 Del intronic 1 9 MSH6 child 8_86439483_TAT_MSH6 1 1 1 A 8 A Repeat-mediated df9fca20-3271-11e6-a812-e11198ba1142 9_116200604_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 116200604 CT C 535 PASS - Del - 1 8 EXO1 parent 9_116200604_CTC_EXO1 1 1 1 T 7 T Repeat-mediated dfa80d8a-3270-11e6-9fba-41ebd8b4fa2c 11_24373787_AAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 24373787 A AT 360 PASS - Ins - 1 6 MSH6 child 11_24373787_AAT_MSH6 1 1 - - - - Ins dfa916da-3270-11e6-b923-6726694da5d2 5_101267654_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 101267654 AT A 360 PASS - Del - 1 2 MSH6 child 5_101267654_ATA_MSH6 1 1 1 T 1 T Repeat-mediated dfac0f16-3289-11e6-a1ee-75e95d753391 16_85225978_GGAAGGTTGTTTCAAAGGTTAAGCAAGTTAGGAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 16 85225978 G GAAGGTTGTTTCAAAGGTTAAGCAAGTTAGGAC 300 PASS - Ins - 32 0 POLE child 16_85225978_GGAAGGTTGTTTCAAAGGTTAAGCAAGTTAGGAC_POLE 32 >=10 - - - - Ins dfb36900-3324-11e6-b0c6-e1e369062303 5_17236168_ATTGA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 5 17236168 ATTG A 720 PASS BASP1 Del intronic 3 1 EXO1 child 5_17236168_ATTGA_EXO1 3 3 2 TT 0 - Microhomology-mediated dfc0eaae-328d-11e6-8c87-38240e01a414 22_30923958_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 30923958 AT A 300 PASS SEC14L6 Del intronic 1 9 MSH6 child 22_30923958_ATA_MSH6 1 1 1 T 8 T Repeat-mediated dfc329ec-3272-11e6-8f33-a6d9cde16804 11_45232437_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 45232437 TG T 540 PASS PRDM11 Del intronic 1 7 MSH6 child 11_45232437_TGT_MSH6 1 1 1 G 6 G Repeat-mediated dfc93e7e-329d-11e6-ae71-0c5325c9da85 1_234113913_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 234113913 GA G 360 PASS SLC35F3 Del intronic 1 9 MSH6 child 1_234113913_GAG_MSH6 1 1 1 A 8 A Repeat-mediated dfce9796-3272-11e6-9e18-3a69671699ea 10_32226271_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 32226271 CT C 300 PASS - Del - 1 9 MSH6 child 10_32226271_CTC_MSH6 1 1 1 T 8 T Repeat-mediated dfd45aa4-329b-11e6-aca6-b39fcc638e3d 2_137871405_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 137871405 GA G 300 PASS THSD7B Del intronic 1 9 MSH6 child 2_137871405_GAG_MSH6 1 1 1 A 8 A Repeat-mediated dfe13b4c-327e-11e6-85d6-b940d5957ca3 10_101148370_GTG . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 10 101148370 GT G 300 PASS CNNM1 Del intronic 1 8 NEIL1 child 10_101148370_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated dfe422e6-3286-11e6-8404-8e1fbce6aa09 8_34863780_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 34863780 CT C 420 PASS - Del - 1 8 MSH6 child 8_34863780_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dfe504a2-329c-11e6-ae71-0c5325c9da85 1_175580475_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 175580475 CT C 420 PASS TNR Del intronic 1 8 MSH6 child 1_175580475_CTC_MSH6 1 1 1 T 7 T Repeat-mediated dff695f4-328e-11e6-b8c1-a64daa5f95ce 9_128525488_GAG . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 9 128525488 GA G 840 PASS PBX3 Del intronic 1 7 POLE child 9_128525488_GAG_POLE 1 1 1 A 6 A Repeat-mediated dffcf4fc-3271-11e6-b1f2-34f6620e6611 1_82536491_GAGTCG . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 1 82536491 GAGTC G 495 PASS - Del - 4 2 CHK2 child 1_82536491_GAGTCG_CHK2 4 4 4 AGTC 1 AGTC Repeat-mediated e000e67e-3290-11e6-9401-04ed6f39e758 3_58746896_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 58746896 CT C 426 PASS C3orf67 Del intronic 1 7 MSH6 child 3_58746896_CTC_MSH6 1 1 1 T 6 T Repeat-mediated e00dd93c-328c-11e6-8952-77c36f39e758 10_84661040_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 84661040 AT A 420 PASS NRG3 Del intronic 1 8 MSH6 child 10_84661040_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e0153776-3288-11e6-b9eb-c78fa2c71c31 6_101693851_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 101693851 CT C 600 PASS - Del - 1 8 MSH6 child 6_101693851_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e01e6d8c-3292-11e6-92cf-bf2a0e01a414 6_79274549_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 79274549 T TA 300 PASS - Ins - 1 7 MSH6 child 6_79274549_TTA_MSH6 1 1 - - - - Ins e0228bb2-3290-11e6-8e48-791e0e01a414 8_62816314_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 62816314 T TA 300 PASS RP11-705O24.1 Ins intronic 1 7 MSH6 child 8_62816314_TTA_MSH6 1 1 - - - - Ins e02bb0ec-3345-11e6-9ded-99034ec77248 19_22232663_AGTCACATCATTTTGGA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 19 22232663 AGTCACATCATTTTGG A 360 PASS ZNF257 Del upstream 15 1 FANCC child 19_22232663_AGTCACATCATTTTGGA_FANCC 15 >=10 0 - 0 - None e03d04b4-328c-11e6-8770-3e160e01a414 9_96669658_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 96669658 CA C 360 PASS - Del - 1 8 MSH6 child 9_96669658_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e049e5d8-328e-11e6-b81f-4ee66f39e758 8_11053324_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 11053324 AT A 720 PASS XKR6 Del intronic 1 9 MSH6 child 8_11053324_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e049ed12-3284-11e6-8b2d-79a669062303 3_4475170_CAC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 3 4475170 CA C 600 PASS SUMF1 Del intronic 1 7 POLE parent 3_4475170_CAC_POLE 1 1 1 A 6 A Repeat-mediated e0506396-3283-11e6-b14f-ffbe2daed38e X_77774272_GTG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA X 77774272 GT G 360 PASS - Del - 1 8 POLB child X_77774272_GTG_POLB 1 1 1 T 7 T Repeat-mediated e053f5b4-328e-11e6-a278-48230e01a414 21_41640496_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 41640496 C CT 420 PASS DSCAM Ins intronic 1 1 MSH6 child 21_41640496_CCT_MSH6 1 1 - - - - Ins e05ce514-326d-11e6-b306-b5204b47a305 2_112376084_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 112376084 CA C 780 PASS - Del - 1 8 MSH6 child 2_112376084_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e05fdff4-329e-11e6-9c44-d26625c9da85 21_35855769_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 21 35855769 CA C 660 PASS KCNE1 Del intronic 1 5 MSH6 child 21_35855769_CAC_MSH6 1 1 1 A 4 A Repeat-mediated e060e296-328f-11e6-b97d-a8b305ad5bc4 20_37175222_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 37175222 AG A 360 PASS RALGAPB Del intronic 1 6 MSH6 child 20_37175222_AGA_MSH6 1 1 1 G 5 G Repeat-mediated e067eb9a-3253-11e6-b4d0-327a7872c165 11_23593112_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 23593112 GT G 660 PASS - Del - 1 9 MSH6 child 11_23593112_GTG_MSH6 1 1 1 T 8 T Repeat-mediated e06b97e8-325a-11e6-8340-da9012ae24cf 6_163353463_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 163353463 AT A 300 PASS PACRG Del intronic 1 9 MSH6 child 6_163353463_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e06d9b30-3280-11e6-a5e9-0107694da5d2 7_39963248_ATA . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 7 39963248 AT A 360 PASS - Del - 1 8 NEIL1 child 7_39963248_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated e0704416-328f-11e6-bb1e-70e16f39e758 X_123791298_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 123791298 GA G 480 PASS TENM1 Del intronic 1 9 MSH6 child X_123791298_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e072d38a-328e-11e6-9230-fb250e01a414 3_60827527_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 60827527 TA T 600 PASS FHIT Del intronic 1 9 MSH6 child 3_60827527_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e073c018-3272-11e6-b539-d702ebb8d062 7_50194189_TTCCATTTTCTTTAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 7 50194189 TTCCATTTTCTTTA T 660 PASS C7orf72 Del intronic 13 1 NUDT1 child 7_50194189_TTCCATTTTCTTTAT_NUDT1 13 >=10 6 TCCATT 0 - Microhomology-mediated e079de12-328b-11e6-aa75-90c36f39e758 13_40179325_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 40179325 TA T 480 PASS LHFP Del upstream 1 6 MSH6 child 13_40179325_TAT_MSH6 1 1 1 A 5 A Repeat-mediated e083427e-328e-11e6-8770-3e160e01a414 9_92861676_CCCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 92861676 C CCA 300 PASS - Ins - 2 4 MSH6 child 9_92861676_CCCA_MSH6 2 2 - - - - Ins e084ba68-3271-11e6-8418-1c5942c4520d 3_180688871_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 180688871 GA G 360 PASS FXR1 Del intronic 1 8 MSH6 child 3_180688871_GAG_MSH6 1 1 1 A 7 A Repeat-mediated e084d11a-329e-11e6-bc2c-2a5e25c9da85 4_129183296_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 129183296 CA C 420 PASS - Del - 1 7 MSH6 child 4_129183296_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e08c73e2-329a-11e6-aca6-b39fcc638e3d 2_71793663_CAGC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 71793663 CAG C 420 PASS DYSF Del intronic 2 6 MSH6 child 2_71793663_CAGC_MSH6 2 2 2 AG 5 AG Repeat-mediated e08cb53e-3284-11e6-9dd8-899e69062303 4_93003412_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 4 93003412 TA T 420 PASS - Del - 1 8 POLE parent 4_93003412_TAT_POLE 1 1 1 A 7 A Repeat-mediated e0933038-328b-11e6-9c89-8d090e01a414 1_154591585_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 154591585 CA C 300 PASS ADAR Del intronic 1 9 MSH6 child 1_154591585_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e0a3e35a-329b-11e6-aca6-b39fcc638e3d 2_138052612_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 138052612 AT A 600 PASS THSD7B Del intronic 1 7 MSH6 child 2_138052612_ATA_MSH6 1 1 1 T 6 T Repeat-mediated e0a4483c-3281-11e6-afd6-7a186ee4ab00 7_150852025_CGAGC . HAP1_POLB_35 HAP1_parental_75_WT_DNA 7 150852025 CGAG C 1140 PASS GBX1 Del intronic 3 4 POLB parent 7_150852025_CGAGC_POLB 3 3 3 GAG 3 GAG Repeat-mediated e0a6f6f0-328a-11e6-a80b-87090e01a414 11_100352691_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 100352691 GA G 264 PASS - Del - 1 7 MSH6 child 11_100352691_GAG_MSH6 1 1 1 A 6 A Repeat-mediated e0a8a3e8-3284-11e6-a0a8-096ea2c71c31 11_46253954_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 46253954 CA C 720 PASS - Del - 1 8 MSH6 child 11_46253954_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e0af5880-3286-11e6-8b67-086ea2c71c31 1_222497649_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 222497649 GA G 360 PASS RP11-400N13.1 Del intronic 1 7 MSH6 child 1_222497649_GAG_MSH6 1 1 1 A 6 A Repeat-mediated e0c1affa-3270-11e6-8418-1c5942c4520d 3_84820033_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 84820033 GT G 720 PASS LINC00971 Del intronic 1 5 MSH6 child 3_84820033_GTG_MSH6 1 1 1 T 4 T Repeat-mediated e0c43d42-3329-11e6-9f5d-eba78a20d9eb 8_19884034_GGCAGGT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 8 19884034 G GCAGGT 420 PASS - Ins - 5 0 EXO1 child 8_19884034_GGCAGGT_EXO1 5 5 - - - - Ins e0c77e2a-329e-11e6-aea7-956725c9da85 3_26530305_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 26530305 CT C 480 PASS - Del - 1 8 MSH6 child 3_26530305_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e0c84710-3253-11e6-bf41-357a7872c165 10_21781922_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 21781922 AT A 300 PASS CASC10 Del 3prime_UTR_variant 1 7 MSH6 child 10_21781922_ATA_MSH6 1 1 1 T 6 T Repeat-mediated e0ce3212-328d-11e6-bd84-429305ad5bc4 1_9619555_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 9619555 G GT 300 PASS SLC25A33 Ins intronic 1 8 MSH6 child 1_9619555_GGT_MSH6 1 1 - - - - Ins e0dc1698-3292-11e6-b77d-2eef6f39e758 6_162281052_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 162281052 GT G 600 PASS PARK2 Del intronic 1 7 MSH6 child 6_162281052_GTG_MSH6 1 1 1 T 6 T Repeat-mediated e0e51c1a-3270-11e6-9309-bdc34a47a305 8_72179793_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 72179793 GT G 660 PASS EYA1 Del intronic 1 8 MSH6 child 8_72179793_GTG_MSH6 1 1 1 T 7 T Repeat-mediated e0e802cc-328e-11e6-bfa2-581f0e01a414 7_130735845_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 130735845 TA T 420 PASS RNU6-1010P Del downstream 1 6 MSH6 child 7_130735845_TAT_MSH6 1 1 1 A 5 A Repeat-mediated e0ea0618-3283-11e6-8362-ce9a69062303 9_119468261_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 9 119468261 CT C 420 PASS ASTN2 Del intronic 1 9 FANCC child 9_119468261_CTC_FANCC 1 1 1 T 8 T Repeat-mediated e0f395c2-3272-11e6-94cc-1ec335cec73b 19_16028594_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 16028594 GA G 480 PASS CYP4F11 Del intronic 1 8 MSH6 child 19_16028594_GAG_MSH6 1 1 1 A 7 A Repeat-mediated e1013f16-328a-11e6-9ee4-43b47098ee92 11_34434074_CCTGTTTCTGCGTTTCTGA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 11 34434074 CCTGTTTCTG CGTTTCTGA 540 PASS - Complex - 9 0 NUDT1 child 11_34434074_CCTGTTTCTGCGTTTCTGA_NUDT1 1 1 - - - - Complex e1023ba8-3282-11e6-a1d1-b18df4b7c17d 1_66662936_AAG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 66662936 A AG 300 PASS PDE4B Ins intronic 1 1 FANCC child 1_66662936_AAG_FANCC 1 1 - - - - Ins e103eb82-3274-11e6-bfb2-2749c225ee11 12_23118151_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 23118151 C CT 300 PASS RP11-114G22.1 Ins intronic 1 7 MSH6 child 12_23118151_CCT_MSH6 1 1 - - - - Ins e10442b2-326f-11e6-819e-9d1aa20b69d5 11_91624010_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 11 91624010 GA G 780 PASS - Del - 1 7 EXO1 parent 11_91624010_GAG_EXO1 1 1 1 A 6 A Repeat-mediated e1087464-3273-11e6-975f-8246cab49462 16_87094855_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 87094855 AT A 540 PASS - Del - 1 6 MSH6 child 16_87094855_ATA_MSH6 1 1 1 T 5 T Repeat-mediated e1090a70-3280-11e6-88ca-c78169062303 16_29128985_CAC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 16 29128985 CA C 360 PASS RP11-426C22.5 Del intronic 1 9 FANCC child 16_29128985_CAC_FANCC 1 1 1 A 8 A Repeat-mediated e109fc4e-329b-11e6-a5cf-205325c9da85 11_126332568_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 126332568 TA T 420 PASS KIRREL3 Del intronic 1 8 MSH6 child 11_126332568_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e116dc82-3275-11e6-8c15-5448694da5d2 5_115373790_GAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 5 115373790 GA G 480 PASS - Del - 1 9 NEIL1 child 5_115373790_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated e1174fc2-3258-11e6-9d5a-0c8112ae24cf 9_95008218_TTTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 95008218 T TTG 300 PASS IARS Ins intronic 2 7 MSH6 child 9_95008218_TTTG_MSH6 2 2 - - - - Ins e11b37aa-327f-11e6-b263-76d64dc77248 8_51179557_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 51179557 CT C 360 PASS SNTG1 Del intronic 1 9 NUDT1 child 8_51179557_CTC_NUDT1 1 1 1 T 8 T Repeat-mediated e11c8e50-328b-11e6-bd84-429305ad5bc4 1_43137116_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 43137116 TA T 660 PASS PPIH Del intronic 1 7 MSH6 child 1_43137116_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e125ff40-326c-11e6-9003-ae204b47a305 19_9954570_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 9954570 TA T 600 PASS PIN1 Del intronic 1 9 MSH6 child 19_9954570_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e1385b18-3271-11e6-b89d-b2d6b0dab373 4_160797161_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 160797161 GT G 420 PASS - Del - 1 5 MSH6 child 4_160797161_GTG_MSH6 1 1 1 T 4 T Repeat-mediated e13c5ec0-3299-11e6-b549-1e5325c9da85 10_3770576_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 3770576 TA T 600 PASS - Del - 1 7 MSH6 child 10_3770576_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e13ccb54-328e-11e6-ba05-bfb14430f757 X_46504416_CAAAGC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA X 46504416 CAAAG C 600 PASS SLC9A7 Del intronic 4 1 POLE child X_46504416_CAAAGC_POLE 4 4 3 AAA 0 - Microhomology-mediated e1414eea-3270-11e6-8ed8-0863a78019ab 5_152993634_CCTTC . HAP1_POLM_21 HAP1_parental_75_WT_DNA 5 152993634 CCTT C 600 PASS GRIA1 Del intronic 3 2 POLM parent 5_152993634_CCTTC_POLM 3 3 3 CTT 1 CTT Repeat-mediated e14a31ba-3278-11e6-a391-f6d67d6a9fc7 6_95274082_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 95274082 TA T 660 PASS - Del - 1 5 MSH6 child 6_95274082_TAT_MSH6 1 1 1 A 4 A Repeat-mediated e14c8132-3272-11e6-826a-adb6fa52e078 17_28686824_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 17 28686824 TA T 420 PASS RNU6-990P Del upstream 1 8 MSH6 child 17_28686824_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e14cfee0-32a0-11e6-aca6-b39fcc638e3d 2_207843102_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 207843102 C CA 720 PASS - Ins - 1 5 MSH6 child 2_207843102_CCA_MSH6 1 1 - - - - Ins e1591290-3271-11e6-82ed-5bfb24864c47 2_9562819_GAACTG . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 2 9562819 GAACT G 540 PASS ITGB1BP1 Del 5prime_UTR_variant 4 1 NUDT1 child 2_9562819_GAACTG_NUDT1 4 4 0 - 0 - None e15fac3a-326d-11e6-b306-b5204b47a305 2_112596044_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 112596044 CT C 328 PASS ANAPC1 Del frameshift 1 6 MSH6 child 2_112596044_CTC_MSH6 1 1 1 T 5 T Repeat-mediated e167073c-329a-11e6-aca6-b39fcc638e3d 2_72144519_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 72144519 TA T 420 PASS - Del - 1 7 MSH6 child 2_72144519_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e16a69bc-3255-11e6-bb62-81f712ae24cf X_62899831_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA X 62899831 CA C 480 PASS ARHGEF9 Del intronic 1 8 POLB child X_62899831_CAC_POLB 1 1 1 A 7 A Repeat-mediated e16aa1be-3289-11e6-a32d-75090e01a414 14_58553446_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 58553446 CA C 540 PASS C14orf37 Del intronic 1 7 MSH6 child 14_58553446_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e175514a-3275-11e6-9e25-e58e2aaffa45 4_39861700_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 39861700 GA G 600 PASS PDS5A Del intronic 1 9 EXO1 child 4_39861700_GAG_EXO1 1 1 1 A 8 A Repeat-mediated e1813a54-3253-11e6-acd5-c91dee3c4f5d 4_12456845_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 4 12456845 CA C 540 PASS - Del - 1 5 POLB child 4_12456845_CAC_POLB 1 1 1 A 4 A Repeat-mediated e189c43e-3259-11e6-8cd9-139b7872c165 3_182288442_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 182288442 AT A 480 PASS - Del - 1 7 MSH6 child 3_182288442_ATA_MSH6 1 1 1 T 6 T Repeat-mediated e18d40b4-3272-11e6-b8ae-92c57872c165 14_52372225_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 52372225 GA G 540 PASS GNG2 Del intronic 1 6 MSH6 child 14_52372225_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e19b04bc-328e-11e6-919e-92c36f39e758 2_225454586_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 225454586 CT C 300 PASS CUL3 Del upstream 1 7 MSH6 child 2_225454586_CTC_MSH6 1 1 1 T 6 T Repeat-mediated e1adeaca-328c-11e6-bfa2-581f0e01a414 7_12132783_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 12132783 CA C 300 PASS - Del - 1 8 MSH6 child 7_12132783_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e1b823fc-3280-11e6-ab79-75e41da8ec0e 18_26678123_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 18 26678123 AT A 480 PASS - Del - 1 8 EXO1 child 18_26678123_ATA_EXO1 1 1 1 T 7 T Repeat-mediated e1bc2d26-3299-11e6-8de1-2d9afaf1a024 7_129203973_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 129203973 AT A 420 PASS - Del - 1 7 CHK2 child 7_129203973_ATA_CHK2 1 1 1 T 6 T Repeat-mediated e1bcada0-3320-11e6-8b89-aa119a696edf 14_64598278_TTTTGT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 14 64598278 TTTTG T 600 PASS SYNE2 Del intronic 4 3 CHK2 child 14_64598278_TTTTGT_CHK2 4 4 4 TTTG 2 TTTG Repeat-mediated e1c06658-328e-11e6-9432-c0e56f39e758 5_21359724_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 21359724 TA T 362 PASS - Del - 1 9 MSH6 child 5_21359724_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e1c55882-329a-11e6-ae71-0c5325c9da85 1_48115390_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 48115390 CT C 600 PASS - Del - 1 4 MSH6 child 1_48115390_CTC_MSH6 1 1 1 T 3 T Repeat-mediated e1c7145a-3291-11e6-9413-6a7219a91649 5_94739328_GTG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 94739328 GT G 300 PASS FAM81B Del intronic 1 8 NEIL1 child 5_94739328_GTG_NEIL1 1 1 1 T 7 T Repeat-mediated e1d54fd0-3286-11e6-a284-4b89a2c71c31 4_31246498_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 31246498 CA C 540 PASS - Del - 1 5 MSH6 child 4_31246498_CAC_MSH6 1 1 1 A 4 A Repeat-mediated e1d9ea84-328d-11e6-a927-37059c6d3b88 14_63937021_CTC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 14 63937021 CT C 300 PASS PPP2R5E Del intronic 1 1 POLB child 14_63937021_CTC_POLB 1 1 0 - 0 T None e1db2bc0-3282-11e6-9607-56b01ac527ab 4_36245369_GTAATG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 4 36245369 GTAAT G 300 PASS ARAP2 Del intronic 4 1 FANCC child 4_36245369_GTAATG_FANCC 4 4 3 TAA 0 - Microhomology-mediated e1de94e0-329b-11e6-ae71-0c5325c9da85 1_110892510_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 110892510 AT A 660 PASS RBM15 Del downstream 1 9 MSH6 child 1_110892510_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e1df8ae6-3271-11e6-9f65-bec924864c47 15_72353774_CCACCCTGGGCCAGAAGGGAACCCATTGCTCTGAAGAGAGACCCAAGCCTGGCAGGATTCACCACAAGCTGGCTCAACAGCCTTCAGGCCTTGAAAAAACATCAGTGGTAAGTAGGCAGTACTCACCACAGGCCTGGGGAGGTGGTAGCCACAGGGAGAGACTCCTTCTGCCTACGGAAAGAAGAGGAAAGAGTAAAAAGGACTCTGTCCTACAACTTAGGCACCAGCTCAGCCACAGAAAAATAAAGCACCAAGGAGATTCCTAAAGTTCCCAACTCCAGGCCCTAGCTCCCAGCCAGCATTTCCAGACTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 15 72353774 CCACCCTGGGCCAGAAGGGAACCCATTGCTCTGAAGAGAGACCCAAGCCTGGCAGGATTCACCACAAGCTGGCTCAACAGCCTTCAGGCCTTGAAAAAACATCAGTGGTAAGTAGGCAGTACTCACCACAGGCCTGGGGAGGTGGTAGCCACAGGGAGAGACTCCTTCTGCCTACGGAAAGAAGAGGAAAGAGTAAAAAGGACTCTGTCCTACAACTTAGGCACCAGCTCAGCCACAGAAAAATAAAGCACCAAGGAGATTCCTAAAGTTCCCAACTCCAGGCCCTAGCTCCCAGCCAGCATTTCCAGACT C 300 PASS MYO9A Del intronic 310 1 POLB child 15_72353774_CCACCCTGGGCCAGAAGGGAACCCATTGCTCTGAAGAGAGACCCAAGCCTGGCAGGATTCACCACAAGCTGGCTCAACAGCCTTCAGGCCTTGAAAAAACATCAGTGGTAAGTAGGCAGTACTCACCACAGGCCTGGGGAGGTGGTAGCCACAGGGAGAGACTCCTTCTGCCTACGGAAAGAAGAGGAAAGAGTAAAAAGGACTCTGTCCTACAACTTAGGCACCAGCTCAGCCACAGAAAAATAAAGCACCAAGGAGATTCCTAAAGTTCCCAACTCCAGGCCCTAGCTCCCAGCCAGCATTTCCAGACTC_POLB 310 >=10 22 CACCCTGGGCCAGAAGGGAACC 0 - Microhomology-mediated e1e3841a-3281-11e6-9f9b-29bd9b6d3b88 11_111030723_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 11 111030723 AT A 360 PASS - Del - 1 9 EXO1 child 11_111030723_ATA_EXO1 1 1 1 T 8 T Repeat-mediated e1e837a6-3288-11e6-a8ac-a28ea2c71c31 3_123012371_TACT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 123012371 TAC T 480 PASS ADCY5 Del intronic 2 4 MSH6 child 3_123012371_TACT_MSH6 2 2 2 AC 3 AC Repeat-mediated e1ec4828-327e-11e6-9a18-69cfaa716c52 4_49511308_CAC . HAP1_POLB_35 HAP1_parental_75_WT_DNA 4 49511308 CA C 369 PASS - Del - 1 4 POLB parent 4_49511308_CAC_POLB 1 1 1 A 3 A Repeat-mediated e1ecf0d8-329d-11e6-a5cf-205325c9da85 11_118517944_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 118517944 C CA 1200 PASS PHLDB1 Ins intronic 1 6 MSH6 child 11_118517944_CCA_MSH6 1 1 - - - - Ins e1ee5fa2-3281-11e6-a2e8-f2338e4678dd 15_78735948_GTG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 15 78735948 GT G 600 PASS IREB2 Del intronic 1 7 EXO1 child 15_78735948_GTG_EXO1 1 1 1 T 6 T Repeat-mediated e1f1ccfc-3270-11e6-aafd-c7dee9d19ece 2_16080309_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 16080309 AT A 300 PASS MYCN Del upstream 1 9 CHK2 child 2_16080309_ATA_CHK2 1 1 1 T 8 T Repeat-mediated e1f4cd92-329a-11e6-ae71-0c5325c9da85 1_48208154_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 48208154 CA C 540 PASS - Del - 1 9 MSH6 child 1_48208154_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e1fea2aa-3325-11e6-91f6-970e147bb207 6_6289809_ATA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 6 6289809 AT A 300 PASS F13A1 Del intronic 1 7 EXO1 child 6_6289809_ATA_EXO1 1 1 1 T 6 T Repeat-mediated e20158d0-326f-11e6-8b35-58bb7872c165 13_93440501_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 13 93440501 TA T 480 PASS GPC5 Del intronic 1 9 EXO1 parent 13_93440501_TAT_EXO1 1 1 1 A 8 A Repeat-mediated e2091f48-326f-11e6-9f48-94df41c4520d 12_130276372_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 130276372 C CA 540 PASS TMEM132D Ins intronic 1 2 MSH6 child 12_130276372_CCA_MSH6 1 1 - - - - Ins e20ea9ce-3286-11e6-8404-8e1fbce6aa09 8_36131427_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 36131427 GA G 540 PASS - Del - 1 8 MSH6 child 8_36131427_GAG_MSH6 1 1 1 A 7 A Repeat-mediated e2228f0e-328e-11e6-847e-1aa5e7d0bdd7 13_22983718_TTA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 13 22983718 T TA 420 PASS - Ins - 1 7 FANCC child 13_22983718_TTA_FANCC 1 1 - - - - Ins e22bcf3c-328f-11e6-9d24-ade56f39e758 7_84517739_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 84517739 TA T 480 PASS - Del - 1 9 MSH6 child 7_84517739_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e22d7a42-334a-11e6-9c63-4b9e38e8a824 8_73221670_AATTCTCCA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 8 73221670 AATTCTCC A 300 PASS - Del - 7 1 FANCC child 8_73221670_AATTCTCCA_FANCC 7 7 2 AT 0 - Microhomology-mediated e230e76a-328f-11e6-8612-7b73fc77b11e 5_60620461_GTG . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 5 60620461 GT G 660 PASS - Del - 1 4 POLE child 5_60620461_GTG_POLE 1 1 1 T 3 T Repeat-mediated e232c846-3253-11e6-8a2a-3af212ae24cf 16_21261026_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 16 21261026 AT A 540 PASS ANKS4B Del intronic 1 8 MSH6 child 16_21261026_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e237e05c-3257-11e6-b4fa-e69a7872c165 21_25185704_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 21 25185704 GA G 360 PASS - Del - 1 7 MSH6 child 21_25185704_GAG_MSH6 1 1 1 A 6 A Repeat-mediated e238a164-328d-11e6-b9c4-751d0e01a414 5_110534291_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 110534291 CT C 600 PASS - Del - 1 9 MSH6 child 5_110534291_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e238dd2c-327a-11e6-ab1d-16d9ecf1e924 20_4462447_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 4462447 A AT 822 PASS RP5-1164C1.2 Ins intronic 1 5 MSH6 child 20_4462447_AAT_MSH6 1 1 - - - - Ins e239d9de-3270-11e6-9260-549ffa52e078 11_32315562_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 11 32315562 AT A 480 PASS - Del - 1 7 POLB child 11_32315562_ATA_POLB 1 1 1 T 6 T Repeat-mediated e2486826-3254-11e6-92eb-77832aaffa45 10_49410780_GCG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 10 49410780 GC G 660 PASS FRMPD2 Del intronic 1 1 POLM child 10_49410780_GCG_POLM 1 1 0 - 0 C None e24bd954-3284-11e6-924c-3208694da5d2 5_142450478_GGA . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 5 142450478 G GA 300 PASS ARHGAP26 Ins intronic 1 8 NEIL1 child 5_142450478_GGA_NEIL1 1 1 - - - - Ins e250e328-3323-11e6-898e-b9f2bbe6aa09 3_118147215_ATA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 3 118147215 AT A 360 PASS RP11-384F7.1 Del intronic 1 7 POLE child 3_118147215_ATA_POLE 1 1 1 T 6 T Repeat-mediated e25274dc-3255-11e6-a304-347a7872c165 1_159618887_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 159618887 CA C 660 PASS - Del - 1 9 MSH6 child 1_159618887_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e253e9ea-3299-11e6-ae71-0c5325c9da85 1_4271474_AAAAAAAAAAGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 4271474 AAAAAAAAAAG A 300 PASS - Del - 10 1 MSH6 child 1_4271474_AAAAAAAAAAGA_MSH6 10 >=10 3 AAA 0 - Microhomology-mediated e2584252-328e-11e6-9d97-efe56f39e758 4_18342701_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 18342701 CT C 540 PASS - Del - 1 9 MSH6 child 4_18342701_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e25cd4ca-3289-11e6-a7cf-80090e01a414 15_48874310_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 48874310 GA G 480 PASS FBN1 Del intronic 1 6 MSH6 child 15_48874310_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e25fd472-3293-11e6-9d97-efe56f39e758 4_189082747_CCA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 189082747 C CA 420 PASS RP11-366H4.1 Ins downstream 1 1 MSH6 child 4_189082747_CCA_MSH6 1 1 - - - - Ins e26264bc-327f-11e6-97a4-78cfaa716c52 5_167447960_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 5 167447960 GA G 600 PASS TENM2 Del intronic 1 8 POLB parent 5_167447960_GAG_POLB 1 1 1 A 7 A Repeat-mediated e26b3110-3283-11e6-b1ba-6def1da8ec0e 1_12791537_CTCTGATGATCGTTTCTTTTGCTGAGCAGAAGCTCTTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 1 12791537 CTCTGATGATCGTTTCTTTTGCTGAGCAGAAGCTCTT C 516 PASS AADACL3 Del downstream 36 1 EXO1 child 1_12791537_CTCTGATGATCGTTTCTTTTGCTGAGCAGAAGCTCTTC_EXO1 36 >=10 1 T 0 - Microhomology-mediated e270215c-3274-11e6-abaf-4642cab49462 6_38989994_GGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 38989994 G GT 300 PASS DNAH8 Ins intronic 1 8 MSH6 child 6_38989994_GGT_MSH6 1 1 - - - - Ins e2767e54-326e-11e6-bfba-13bf4a47a305 9_37626325_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 37626325 GA G 540 PASS - Del - 1 7 MSH6 child 9_37626325_GAG_MSH6 1 1 1 A 6 A Repeat-mediated e27ebb1c-3284-11e6-97d5-6cf1bbe6aa09 17_38627495_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 38627495 AT A 480 PASS TNS4 Del downstream 1 3 MSH6 child 17_38627495_ATA_MSH6 1 1 1 T 2 T Repeat-mediated e2803094-3290-11e6-8eec-d1257a852e0e 10_92924845_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 10 92924845 CT C 480 PASS - Del - 1 9 CHK2 child 10_92924845_CTC_CHK2 1 1 1 T 8 T Repeat-mediated e28069fa-3282-11e6-a72f-6a393dc9300a 2_150317894_ATA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 2 150317894 AT A 300 PASS LYPD6 Del intronic 1 8 FANCC child 2_150317894_ATA_FANCC 1 1 1 T 7 T Repeat-mediated e2829e88-329a-11e6-ae71-0c5325c9da85 1_48415663_GGAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 48415663 GGA G 600 PASS TRABD2B Del intronic 2 4 MSH6 child 1_48415663_GGAG_MSH6 2 2 2 GA 3 GA Repeat-mediated e28b5ef6-328b-11e6-a7cf-80090e01a414 15_100620891_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 100620891 CT C 420 PASS ADAMTS17 Del intronic 1 7 MSH6 child 15_100620891_CTC_MSH6 1 1 1 T 6 T Repeat-mediated e28bd190-328d-11e6-aa75-90c36f39e758 13_68397820_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 68397820 C CT 420 PASS - Ins - 1 6 MSH6 child 13_68397820_CCT_MSH6 1 1 - - - - Ins e299b686-328b-11e6-bd84-429305ad5bc4 1_44048689_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 44048689 CT C 360 PASS PTPRF Del intronic 1 8 MSH6 child 1_44048689_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e2aa0ab6-328d-11e6-84e9-d36dfd44d094 2_158025239_TTCTCATAT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 2 158025239 TTCTCATA T 480 PASS - Del - 7 1 POLM child 2_158025239_TTCTCATAT_POLM 7 7 6 TCTCAT 0 - Microhomology-mediated e2be62ec-328b-11e6-b8e6-91c36f39e758 11_22964953_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 22964953 CT C 360 PASS - Del - 1 8 MSH6 child 11_22964953_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e2bfe770-326d-11e6-92dd-fda8977b3f23 10_96348209_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 96348209 CT C 420 PASS HELLS Del intronic 1 9 MSH6 child 10_96348209_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e2c509be-3293-11e6-92cf-bf2a0e01a414 6_162502954_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 162502954 G GA 960 PASS PARK2 Ins intronic 1 1 MSH6 child 6_162502954_GGA_MSH6 1 1 - - - - Ins e2d04e6c-3259-11e6-8340-da9012ae24cf 6_96446173_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 96446173 AT A 420 PASS - Del - 1 2 MSH6 child 6_96446173_ATA_MSH6 1 1 1 T 1 T Repeat-mediated e2d31602-3276-11e6-92d2-c259c225ee11 3_43192576_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 43192576 CA C 300 PASS - Del - 1 9 MSH6 child 3_43192576_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e2d4b806-326f-11e6-a0a7-943dc225ee11 1_60801938_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 60801938 CT C 420 PASS - Del - 1 9 EXO1 parent 1_60801938_CTC_EXO1 1 1 1 T 8 T Repeat-mediated e2e0f828-328d-11e6-9337-20a5e7d0bdd7 14_41532032_TAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 14 41532032 TA T 300 PASS - Del - 1 6 FANCC child 14_41532032_TAT_FANCC 1 1 1 A 5 A Repeat-mediated e2e5c5da-3321-11e6-91ad-40968a20d9eb 17_8948955_AGA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 17 8948955 AG A 540 PASS NTN1 Del intronic 1 1 EXO1 child 17_8948955_AGA_EXO1 1 1 0 - 0 G None e2ecec8e-329a-11e6-a5cf-205325c9da85 11_65442654_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 65442654 CT C 360 PASS - Del - 1 9 MSH6 child 11_65442654_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e2f19368-3274-11e6-9fdc-736366a58581 6_113760860_TAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 6 113760860 TA T 480 PASS - Del - 1 8 EXO1 parent 6_113760860_TAT_EXO1 1 1 1 A 7 A Repeat-mediated e302ace6-328a-11e6-aff5-85090e01a414 16_87456989_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 87456989 TA T 480 PASS ZCCHC14 Del intronic 1 7 MSH6 child 16_87456989_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e304bdd0-3283-11e6-847a-5cef1da8ec0e 11_12758433_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 11 12758433 CT C 480 PASS TEAD1 Del intronic 1 7 EXO1 child 11_12758433_CTC_EXO1 1 1 1 T 6 T Repeat-mediated e30e3880-3272-11e6-8f50-b45335cec73b 19_34415422_AAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 19 34415422 A AT 600 PASS - Ins - 1 6 CHK2 child 19_34415422_AAT_CHK2 1 1 - - - - Ins e316d63c-3283-11e6-b179-b9af90e2c2e6 15_34272224_GAG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 15 34272224 GA G 420 PASS CHRM5 Del intronic 1 8 POLE child 15_34272224_GAG_POLE 1 1 1 A 7 A Repeat-mediated e31d6678-329c-11e6-b129-195325c9da85 16_62706967_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 62706967 C CT 720 PASS - Ins - 1 9 MSH6 child 16_62706967_CCT_MSH6 1 1 - - - - Ins e31ec198-328e-11e6-8b82-18a5e7d0bdd7 15_76643032_TGCTATAGGAAAAAT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 15 76643032 TGCTATAGGAAAAA T 360 PASS SCAPER Del intronic 13 1 FANCC child 15_76643032_TGCTATAGGAAAAAT_FANCC 13 >=10 0 - 0 - None e32aa986-329d-11e6-ae71-0c5325c9da85 1_234945188_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 234945188 GT G 321 PASS - Del - 1 7 MSH6 child 1_234945188_GTG_MSH6 1 1 1 T 6 T Repeat-mediated e337a2ce-3321-11e6-8ccd-5c056323ba5a 2_17441836_TAT . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 2 17441836 TA T 720 PASS - Del - 1 3 EXO1 child 2_17441836_TAT_EXO1 1 1 1 A 2 A Repeat-mediated e33f34c8-3289-11e6-a32d-75090e01a414 14_58799157_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 58799157 CT C 540 PASS ARID4A Del intronic 1 5 MSH6 child 14_58799157_CTC_MSH6 1 1 1 T 4 T Repeat-mediated e3482b14-3275-11e6-a3dd-600b4ec77248 2_219623481_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 2 219623481 GA G 720 PASS TTLL4 Del downstream 1 3 EXO1 child 2_219623481_GAG_EXO1 1 1 1 A 2 A Repeat-mediated e34b0d00-3272-11e6-9e18-3a69671699ea 10_32553763_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 32553763 CT C 420 PASS EPC1 Del downstream 1 8 MSH6 child 10_32553763_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e34fb5d0-3277-11e6-a391-f6d67d6a9fc7 6_26851363_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 26851363 TG T 532 PASS - Del - 1 5 MSH6 child 6_26851363_TGT_MSH6 1 1 1 G 4 G Repeat-mediated e34fcf2c-327a-11e6-92d2-c259c225ee11 3_129932274_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 129932274 G GT 420 PASS - Ins - 1 7 MSH6 child 3_129932274_GGT_MSH6 1 1 - - - - Ins e35aa1ba-3287-11e6-a8ac-a28ea2c71c31 3_26131694_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 26131694 CT C 300 PASS - Del - 1 8 MSH6 child 3_26131694_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e3620cc8-3289-11e6-8eee-76090e01a414 10_37501765_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 37501765 CT C 300 PASS ANKRD30A Del intronic 1 9 MSH6 child 10_37501765_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e3647af8-3284-11e6-9170-b6936f39e758 12_82471129_CTC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 82471129 CT C 300 PASS - Del - 1 6 EXO1 child 12_82471129_CTC_EXO1 1 1 1 T 5 T Repeat-mediated e365f968-3320-11e6-8b61-fad5c042253c 12_51101975_CATC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 12 51101975 CAT C 300 PASS DIP2B Del intronic 2 2 CHK2 child 12_51101975_CATC_CHK2 2 2 2 AT 1 AT Repeat-mediated e36dc96c-329f-11e6-aea7-956725c9da85 3_89235193_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 89235193 CT C 600 PASS EPHA3 Del intronic 1 7 MSH6 child 3_89235193_CTC_MSH6 1 1 1 T 6 T Repeat-mediated e36e7b7a-3275-11e6-a71d-236235cec73b X_47561543_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 47561543 TA T 840 PASS - Del - 1 8 MSH6 child X_47561543_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e372cdfc-329c-11e6-ae71-0c5325c9da85 1_176378515_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 176378515 CT C 660 PASS - Del - 1 8 MSH6 child 1_176378515_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e3743726-3258-11e6-a39a-dc8512ae24cf 8_76597811_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 76597811 AT A 720 PASS - Del - 1 8 MSH6 child 8_76597811_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e376ba24-32a2-11e6-b970-398625c9da85 20_35239695_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 35239695 AT A 660 PASS SLA2 Del downstream 1 9 MSH6 child 20_35239695_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e37a52c0-329c-11e6-8d0f-075325c9da85 14_98234176_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 98234176 C CA 780 PASS - Ins - 1 1 MSH6 child 14_98234176_CCA_MSH6 1 1 - - - - Ins e37cae3e-3257-11e6-8cd9-139b7872c165 3_26041921_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 26041921 GT G 360 PASS - Del - 1 8 MSH6 child 3_26041921_GTG_MSH6 1 1 1 T 7 T Repeat-mediated e38ab96c-326f-11e6-a814-019f38e8a824 18_69347390_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 18 69347390 TA T 480 PASS - Del - 1 8 NUDT1 child 18_69347390_TAT_NUDT1 1 1 1 A 7 A Repeat-mediated e3a41fd8-329c-11e6-aca6-b39fcc638e3d 2_201855121_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 201855121 AT A 420 PASS FAM126B Del intronic 1 9 MSH6 child 2_201855121_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e3a6eaa0-3275-11e6-a6a8-746da178171f 4_124679064_GTTCG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 4 124679064 GTTC G 840 PASS LINC01091 Del intronic 3 2 NEIL1 child 4_124679064_GTTCG_NEIL1 3 3 3 TTC 1 TTC Repeat-mediated e3aa809a-328c-11e6-b805-77090e01a414 2_237708624_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 237708624 TA T 660 PASS - Del - 1 8 MSH6 child 2_237708624_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e3ac05b2-3257-11e6-885f-d1947872c165 4_125067685_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 125067685 CT C 600 PASS CTD-2325B11.1 Del downstream 1 8 MSH6 child 4_125067685_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e3ad50b8-3282-11e6-8597-c8186ee4ab00 8_42196525_TTCAGAACTCGCAAACTTTGAGAAGAACGTGAGCCAAGCTATCCACAAGTACAATGCTTACAGGTGGGACAGTGCAGCATTCTCGGGTAGCATACGTTCTGGGATACCCTGTTTAGTGTGGCAATTAACAGGACTGAGGGCCCAGTGGATATTTGGTCCATCTGCAAGAGCGGGAAAAAGCAAGAATCGAGGCTGGTACCTTACTATTTCTTGAAGAATGTGGGCAGTGCGTTATAGGATCAGTTCAGATAAGTTCCCAATTCTGATTGCAGATAGCTGTAGCCTGATACGTATTTTGTCATCATCAAACATGAATTACTAGAAATGCGGTGTAATTTTAACCGTAATGAAAGACAGCGGATGAAGTCCATACTGTGAAATATATGTGGTTCAAGGAATCACATTTTTTCTTTTGGTTGGTCTAAAGTTGATCCTGTGGGATCCTGATCCTGATCCTTGTTCCTTGTTCATGGGATCCTGTCCTTGTTCATCTCACCAGGGGCCTTATCCTATTCATTCTTTCTCCGTTTGCTCATGGCGGCCTG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 8 42196525 TTCAGAACTCGCAAACTTTGAGAAGAACGTGAGCCAAGCTATCCACAAGTACAATGCTTACAGGTGGGACAGTGCAGCATTCTCGGGTAGCATACGTTCTGGGATACCCTGTTTAGTGTGGCAATTAACAGGACTGAGGGCCCAGTGGATATTTGGTCCATCTGCAAGAGCGGGAAAAAGCAAGAATCGAGGCTGGTACCTTACTATTTCTTGAAGAATGTGGGCAGTGCGTTATAGGATCAGTTCAGATAAGTTCCCAATTCTGATTGCAGATAGCTGTAGCCTGATACGTATTTTGTCATCATCAAACATGAATTACTAGAAATGCGGTGTAATTTTAACCGTAATGAAAGACAGCGGATGAAGTCCATACTGTGAAATATATGTGGTTCAAGGAATCACATTTTTTCTTTTGGTTGGTCTAAAGTTGATCCTGTGGGATCCTGATCCTGATCCTTGTTCCTTGTTCATGGGATCCTGTCCTTGTTCATCTCACCAGGGGCCTTATCCTATTCATTCTTTC TCCGTTTGCTCATGGCGGCCTG 660 PASS POLB Complex SO:0000010:protein_coding,SO:0000316:CDS,SO:0000147:exon,SO:0001993:extended_cis_splice_site,SO:0000188:intron,SO:0001996:extended_intronic_splice_region,SO:1000032:indel,SO:0001577:complex_change_in_transcript,SO:0001576:transcript_variant 522 0 POLB parent 8_42196525_TTCAGAACTCGCAAACTTTGAGAAGAACGTGAGCCAAGCTATCCACAAGTACAATGCTTACAGGTGGGACAGTGCAGCATTCTCGGGTAGCATACGTTCTGGGATACCCTGTTTAGTGTGGCAATTAACAGGACTGAGGGCCCAGTGGATATTTGGTCCATCTGCAAGAGCGGGAAAAAGCAAGAATCGAGGCTGGTACCTTACTATTTCTTGAAGAATGTGGGCAGTGCGTTATAGGATCAGTTCAGATAAGTTCCCAATTCTGATTGCAGATAGCTGTAGCCTGATACGTATTTTGTCATCATCAAACATGAATTACTAGAAATGCGGTGTAATTTTAACCGTAATGAAAGACAGCGGATGAAGTCCATACTGTGAAATATATGTGGTTCAAGGAATCACATTTTTTCTTTTGGTTGGTCTAAAGTTGATCCTGTGGGATCCTGATCCTGATCCTTGTTCCTTGTTCATGGGATCCTGTCCTTGTTCATCTCACCAGGGGCCTTATCCTATTCATTCTTTCTCCGTTTGCTCATGGCGGCCTG_POLB 501 >=10 - - - - Complex e3add4ac-328c-11e6-8256-94c36f39e758 17_68301120_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 68301120 CT C 480 PASS - Del - 1 9 MSH6 child 17_68301120_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e3c0c27e-325a-11e6-8b28-55ad7872c165 20_18226193_TCT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 18226193 TC T 360 PASS - Del - 1 6 MSH6 child 20_18226193_TCT_MSH6 1 1 1 C 5 C Repeat-mediated e3c51100-3285-11e6-a673-cc9b38e8a824 7_151307651_TACTCTGGAGGCTGAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 7 151307651 TACTCTGGAGGCTGA T 540 PASS PRKAG2 Del intronic 14 1 POLE parent 7_151307651_TACTCTGGAGGCTGAT_POLE 14 >=10 0 - 0 - None e3da2218-3274-11e6-a862-bc9becf1e924 1_166952609_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 166952609 CT C 360 PASS - Del - 1 7 MSH6 child 1_166952609_CTC_MSH6 1 1 1 T 6 T Repeat-mediated e3e32fea-3281-11e6-bd52-75299ecd0b3a 11_125794929_ATA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 11 125794929 AT A 900 PASS DDX25 Del downstream 1 9 POLB child 11_125794929_ATA_POLB 1 1 1 T 8 T Repeat-mediated e3e7dde4-3284-11e6-97d5-6cf1bbe6aa09 17_39105104_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 39105104 CA C 300 PASS - Del - 1 5 MSH6 child 17_39105104_CAC_MSH6 1 1 1 A 4 A Repeat-mediated e3f2efb6-3272-11e6-961c-b84b3cfdbd24 18_61787230_CCA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 18 61787230 C CA 660 PASS RP11-146N18.1 Ins intronic 1 7 MSH6 parent 18_61787230_CCA_MSH6 1 1 - - - - Ins e3f4303c-3291-11e6-a454-be257a852e0e 17_43029376_TTGTATATATGTATATATACGTATATATGTATATATGTATATATAC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 17 43029376 T TGTATATATGTATATATACGTATATATGTATATATGTATATATAC 360 PASS KIF18B Ins upstream 44 0 CHK2 child 17_43029376_TTGTATATATGTATATATACGTATATATGTATATATGTATATATAC_CHK2 44 >=10 - - - - Ins e3f88edc-3289-11e6-a8ac-a28ea2c71c31 3_23818406_GGA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 23818406 G GA 420 PASS - Ins - 1 7 MSH6 child 3_23818406_GGA_MSH6 1 1 - - - - Ins e3f9736c-3282-11e6-8a7a-74ed1f4bbf9c 7_6286196_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 7 6286196 AT A 300 PASS CYTH3 Del intronic 1 9 EXO1 child 7_6286196_ATA_EXO1 1 1 1 T 8 T Repeat-mediated e3fb7cac-334a-11e6-a9cc-a0a270cce0de 2_67762980_GGT . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 2 67762980 G GT 780 PASS - Ins - 1 6 FANCC child 2_67762980_GGT_FANCC 1 1 - - - - Ins e3fdad74-3287-11e6-8bbd-f88da2c71c31 21_34782298_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 34782298 AT A 420 PASS IFNGR2 Del intronic 1 9 MSH6 child 21_34782298_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e406df20-3273-11e6-983a-1d8bcf737e61 7_23788335_CTC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 7 23788335 CT C 300 PASS STK31 Del intronic 1 8 POLB child 7_23788335_CTC_POLB 1 1 1 T 7 T Repeat-mediated e407cef8-3273-11e6-8fc6-c022c7271a47 4_158477090_GTG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 4 158477090 GT G 1140 PASS - Del - 1 5 POLB child 4_158477090_GTG_POLB 1 1 1 T 4 T Repeat-mediated e4090f4e-3254-11e6-89d3-d29498816cf3 2_151006227_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 151006227 AT A 720 PASS - Del - 1 9 MSH6 child 2_151006227_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e4152260-328c-11e6-b43c-7ec36f39e758 16_81045939_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 81045939 GA G 300 PASS CENPN Del intronic 1 6 MSH6 child 16_81045939_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e4172d56-3293-11e6-9230-fb250e01a414 3_196147045_AAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 196147045 A AG 900 PASS UBXN7 Ins intronic 1 6 MSH6 child 3_196147045_AAG_MSH6 1 1 - - - - Ins e41e9690-3289-11e6-9996-bebd38e8a824 X_16707832_AACA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 16707832 AAC A 600 PASS CTPS2 Del intronic 2 6 NUDT1 parent X_16707832_AACA_NUDT1 2 2 2 AC 5 AC Repeat-mediated e426cd74-3275-11e6-90fa-056466a58581 4_154182582_GAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 154182582 GA G 360 PASS TRIM2 Del intronic 1 9 FANCC child 4_154182582_GAG_FANCC 1 1 1 A 8 A Repeat-mediated e43621b2-326f-11e6-bfba-13bf4a47a305 9_135382943_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 9 135382943 TA T 300 PASS C9orf171 Del intronic 1 7 MSH6 child 9_135382943_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e441748e-3280-11e6-8973-e1308e4678dd 11_40316402_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 11 40316402 TA T 300 PASS LRRC4C Del upstream 1 9 FANCC child 11_40316402_TAT_FANCC 1 1 1 A 8 A Repeat-mediated e4439384-3273-11e6-aa3b-ca60a178171f 13_20434613_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 20434613 T TA 300 PASS ZMYM5 Ins intronic 1 1 MSH6 child 13_20434613_TTA_MSH6 1 1 - - - - Ins e45e0a30-328b-11e6-bd84-429305ad5bc4 1_44760173_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 44760173 TC T 480 PASS ERI3 Del intronic 1 4 MSH6 child 1_44760173_TCT_MSH6 1 1 1 C 3 C Repeat-mediated e46318de-328d-11e6-a6b1-9a5c694da5d2 10_104549075_CTC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 10 104549075 CT C 1200 PASS WBP1L Del intronic 1 2 POLM child 10_104549075_CTC_POLM 1 1 1 T 1 T Repeat-mediated e46498de-3270-11e6-9260-549ffa52e078 11_32727934_CAC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 11 32727934 CA C 300 PASS CCDC73 Del intronic 1 8 POLB child 11_32727934_CAC_POLB 1 1 1 A 7 A Repeat-mediated e4651c54-326c-11e6-adc2-b7204b47a305 18_23446803_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 23446803 GA G 660 PASS - Del - 1 7 MSH6 child 18_23446803_GAG_MSH6 1 1 1 A 6 A Repeat-mediated e4690704-328c-11e6-88c1-95c36f39e758 14_101004529_TCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 101004529 TC T 300 PASS BEGAIN Del frameshift 1 8 MSH6 child 14_101004529_TCT_MSH6 1 1 1 C 7 C Repeat-mediated e4778c0c-329b-11e6-a5cf-205325c9da85 11_127390637_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 127390637 GT G 720 PASS - Del - 1 2 MSH6 child 11_127390637_GTG_MSH6 1 1 1 T 1 T Repeat-mediated e478cdb0-3287-11e6-a5b3-3f1ebce6aa09 7_135076286_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 135076286 GA G 660 PASS CNOT4 Del intronic 1 9 MSH6 child 7_135076286_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e47e3364-328b-11e6-b8e6-91c36f39e758 11_23351637_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 23351637 AT A 360 PASS - Del - 1 8 MSH6 child 11_23351637_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e4896abc-328c-11e6-aa75-90c36f39e758 13_106877156_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 106877156 TA T 720 PASS - Del - 1 8 MSH6 child 13_106877156_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e492a39c-326f-11e6-8a0d-fc4238e8a824 1_98273401_ATA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 1 98273401 AT A 480 PASS DPYD Del intronic 1 9 POLM child 1_98273401_ATA_POLM 1 1 1 T 8 T Repeat-mediated e49eaa2e-3284-11e6-a1ac-fd6da2c71c31 13_63549585_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 63549585 CA C 420 PASS - Del - 1 7 MSH6 child 13_63549585_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e49f0408-3287-11e6-af7e-81c435cec73b 4_92751939_ATA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 4 92751939 AT A 420 PASS - Del - 1 8 POLE child 4_92751939_ATA_POLE 1 1 1 T 7 T Repeat-mediated e4bda4f4-3272-11e6-b332-88ba7d6a9fc7 15_43190588_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 43190588 CA C 688 PASS TTBK2 Del intronic 1 6 MSH6 child 15_43190588_CAC_MSH6 1 1 1 A 5 A Repeat-mediated e4bdb600-3322-11e6-8db2-39e579852e0e 2_216359417_AGA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 2 216359417 AG A 600 PASS - Del - 1 1 POLE child 2_216359417_AGA_POLE 1 1 0 - 0 G None e4cc62e0-329b-11e6-aca6-b39fcc638e3d 2_138998319_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 138998319 GA G 780 PASS - Del - 1 8 MSH6 child 2_138998319_GAG_MSH6 1 1 1 A 7 A Repeat-mediated e4d1c53c-32a0-11e6-a04f-c66a25c9da85 6_105146899_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 105146899 GT G 900 PASS - Del - 1 8 MSH6 child 6_105146899_GTG_MSH6 1 1 1 T 7 T Repeat-mediated e4d203c4-3275-11e6-8c34-46e27872c165 5_35534323_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 35534323 GT G 480 PASS - Del - 1 6 MSH6 child 5_35534323_GTG_MSH6 1 1 1 T 5 T Repeat-mediated e4d78576-325a-11e6-8b28-55ad7872c165 20_18475025_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 18475025 GA G 300 PASS RBBP9 Del intronic 1 9 MSH6 child 20_18475025_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e4d83978-3253-11e6-aedc-3df212ae24cf 19_12259788_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 12259788 TA T 480 PASS ZNF625 Del intronic 1 9 MSH6 child 19_12259788_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e4e0400c-3274-11e6-86e1-8d021ea8ec0e X_64320312_GACG . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA X 64320312 GAC G 360 PASS - Del - 2 2 POLB child X_64320312_GACG_POLB 2 2 2 AC 1 AC Repeat-mediated e4e73a2a-3291-11e6-9401-04ed6f39e758 3_133917316_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 133917316 AT A 360 PASS RYK Del intronic 1 8 MSH6 child 3_133917316_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e4e8a64a-329a-11e6-bda6-065325c9da85 13_86310535_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 86310535 CA C 540 PASS - Del - 1 9 MSH6 child 13_86310535_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e4f729d0-3273-11e6-8cac-d8617098ee92 10_90890535_TTATGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 10 90890535 T TATGA 840 PASS - Ins - 4 0 FANCC child 10_90890535_TTATGA_FANCC 4 4 - - - - Ins e4feff6c-3254-11e6-89d3-d29498816cf3 2_151423577_TGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 151423577 TG T 480 PASS AC104777.2 Del intronic 1 1 MSH6 child 2_151423577_TGT_MSH6 1 1 0 - 0 G None e505d3bc-3274-11e6-9e4c-96041ea8ec0e 5_75854339_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 5 75854339 AT A 360 PASS IQGAP2 Del intronic 1 8 FANCC child 5_75854339_ATA_FANCC 1 1 1 T 7 T Repeat-mediated e50a7ff0-3294-11e6-9401-04ed6f39e758 3_149169525_AAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 149169525 A AG 300 PASS - Ins - 1 1 MSH6 child 3_149169525_AAG_MSH6 1 1 - - - - Ins e50a9c82-3286-11e6-8b67-086ea2c71c31 1_224212605_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 224212605 CT C 449 PASS - Del - 1 4 MSH6 child 1_224212605_CTC_MSH6 1 1 1 T 3 T Repeat-mediated e50b60ae-328b-11e6-b805-77090e01a414 2_175447282_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 175447282 AT A 360 PASS WIPF1 Del intronic 1 9 MSH6 child 2_175447282_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e50c5794-3253-11e6-a03d-40f212ae24cf 18_25240062_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 25240062 TA T 480 PASS - Del - 1 9 MSH6 child 18_25240062_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e50f3152-329f-11e6-91d0-016425c9da85 7_141891402_CTAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 141891402 CTA C 540 PASS - Del - 2 7 MSH6 child 7_141891402_CTAC_MSH6 2 2 2 TA 6 TA Repeat-mediated e512354c-328f-11e6-b52f-4eeb6f39e758 22_29133018_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 29133018 CA C 420 PASS CHEK2 Del intronic 1 8 MSH6 child 22_29133018_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e51904cc-329d-11e6-bc66-17b4cc638e3d 8_26422289_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 26422289 TA T 720 PASS DPYSL2 Del intronic 1 6 MSH6 child 8_26422289_TAT_MSH6 1 1 1 A 5 A Repeat-mediated e51ef1fe-3278-11e6-81cf-37408a20d9eb 8_140939133_GAG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 140939133 GA G 300 PASS TRAPPC9 Del intronic 1 9 EXO1 child 8_140939133_GAG_EXO1 1 1 1 A 8 A Repeat-mediated e51f7346-328b-11e6-b4fe-93c36f39e758 12_20627895_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 20627895 CT C 480 PASS PDE3A Del intronic 1 9 MSH6 child 12_20627895_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e5305892-326c-11e6-9793-9a8fb0dab373 13_40101835_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 40101835 AT A 540 PASS LHFP Del intronic 1 7 MSH6 child 13_40101835_ATA_MSH6 1 1 1 T 6 T Repeat-mediated e5330e9e-3270-11e6-b89d-b2d6b0dab373 4_92870222_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 92870222 CA C 480 PASS - Del - 1 9 MSH6 child 4_92870222_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e53b585e-3290-11e6-9432-c0e56f39e758 5_163760216_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 163760216 AT A 660 PASS - Del - 1 8 MSH6 child 5_163760216_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e547d334-328d-11e6-919e-92c36f39e758 2_163660896_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 163660896 TA T 420 PASS KCNH7 Del intronic 1 7 MSH6 child 2_163660896_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e547fb38-328e-11e6-9432-c0e56f39e758 5_22087460_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 22087460 GA G 480 PASS CDH12 Del intronic 1 6 MSH6 child 5_22087460_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e54dc814-3285-11e6-afcf-0311bce6aa09 9_6275222_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 6275222 TA T 660 PASS - Del - 1 8 MSH6 child 9_6275222_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e566a072-329f-11e6-91d0-016425c9da85 7_141951251_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 141951251 CA C 600 PASS PRSS58 Del downstream 1 7 MSH6 child 7_141951251_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e568bb02-3275-11e6-a2a4-305390e2c2e6 3_14483512_AAGGT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 3 14483512 A AGGT 780 PASS SLC6A6 Ins intronic 3 0 POLB child 3_14483512_AAGGT_POLB 3 3 - - - - Ins e5709ee2-3286-11e6-95fb-1402b5d65427 10_2619248_TAT . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 10 2619248 TA T 600 PASS - Del - 1 4 NUDT1 parent 10_2619248_TAT_NUDT1 1 1 1 A 3 A Repeat-mediated e58f83b0-3273-11e6-983a-1d8bcf737e61 7_24182859_CCAAGAAGGC . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 7 24182859 CCAAGAAGG C 480 PASS - Del - 8 1 POLB child 7_24182859_CCAAGAAGGC_POLB 8 8 3 CAA 0 - Microhomology-mediated e596f274-327f-11e6-afd6-7a186ee4ab00 7_21130898_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 7 21130898 GA G 289 PASS - Del - 1 6 POLB parent 7_21130898_GAG_POLB 1 1 1 A 5 A Repeat-mediated e59860f4-3276-11e6-a1d0-c9e56de4ab00 4_38534442_TGCTATTATAGT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 4 38534442 TGCTATTATAG T 540 PASS - Del - 10 1 NEIL1 child 4_38534442_TGCTATTATAGT_NEIL1 10 >=10 0 - 0 - None e5a2a70e-3270-11e6-b09c-a7fe7146d362 10_21175116_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 10 21175116 AT A 480 PASS NEBL Del intronic 1 8 CHK2 child 10_21175116_ATA_CHK2 1 1 1 T 7 T Repeat-mediated e5a35dce-329e-11e6-94ca-0aaecc638e3d X_77251575_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 77251575 CA C 1020 PASS ATP7A Del intronic 1 7 MSH6 child X_77251575_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e5a814f0-3275-11e6-8c34-46e27872c165 5_35783031_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 35783031 GA G 660 PASS SPEF2 Del intronic 1 6 MSH6 child 5_35783031_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e5b71944-3295-11e6-9ac5-d165046f68b1 7_147364903_TAT . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 7 147364903 TA T 540 PASS CNTNAP2 Del intronic 1 8 NEIL1 child 7_147364903_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated e5c5119a-3289-11e6-b0c4-e9b2cc638e3d 18_63487492_CAC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 18 63487492 CA C 360 PASS CDH7 Del intronic 1 3 NUDT1 child 18_63487492_CAC_NUDT1 1 1 1 A 2 A Repeat-mediated e5cefd04-3275-11e6-8889-c85efc77b11e 4_137244006_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 137244006 TA T 480 PASS RP11-775H9.2 Del intronic 1 7 MSH6 parent 4_137244006_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e5d0ca4e-329d-11e6-ae71-0c5325c9da85 1_235520396_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 235520396 TA T 720 PASS - Del - 1 4 MSH6 child 1_235520396_TAT_MSH6 1 1 1 A 3 A Repeat-mediated e5d0f1ec-3278-11e6-92d2-c259c225ee11 3_188519810_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 188519810 CT C 600 PASS LPP Del intronic 1 8 MSH6 child 3_188519810_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e5d9cbbc-3275-11e6-90fa-056466a58581 4_154504662_GATAAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 154504662 GATAA G 360 PASS KIAA0922 Del intronic 4 1 FANCC child 4_154504662_GATAAG_FANCC 4 4 3 ATA 0 - Microhomology-mediated e5dd5316-3286-11e6-8404-8e1fbce6aa09 8_37587274_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 37587274 GA G 780 PASS - Del - 1 8 MSH6 child 8_37587274_GAG_MSH6 1 1 1 A 7 A Repeat-mediated e5dde2a2-3256-11e6-9d5a-0c8112ae24cf 9_88810612_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 88810612 CT C 600 PASS - Del - 1 9 MSH6 child 9_88810612_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e5e76a36-328b-11e6-b8e6-91c36f39e758 11_23534285_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 23534285 GA G 600 PASS - Del - 1 6 MSH6 child 11_23534285_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e5e7e878-3275-11e6-abaf-4642cab49462 6_118653760_GGCCCTGCATGTGGACTCTGATTTCTGATCATTTGTTTTAAATTTATCAGCTCTACAGATACGA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 118653760 G GCCCTGCATGTGGACTCTGATTTCTGATCATTTGTTTTAAATTTATCAGCTCTACAGATACGA 300 PASS - Ins - 62 0 MSH6 child 6_118653760_GGCCCTGCATGTGGACTCTGATTTCTGATCATTTGTTTTAAATTTATCAGCTCTACAGATACGA_MSH6 62 >=10 - - - - Ins e5f5a3f4-326c-11e6-9003-ae204b47a305 19_10573068_TCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 10573068 TC T 540 PASS PDE4A Del intronic 1 8 MSH6 child 19_10573068_TCT_MSH6 1 1 1 C 7 C Repeat-mediated e5f75768-3270-11e6-b5b8-e0c24a47a305 X_96095604_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 96095604 AT A 300 PASS DIAPH2 Del intronic 1 9 MSH6 child X_96095604_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e5f92776-3286-11e6-8404-8e1fbce6aa09 8_37615707_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 37615707 GT G 540 PASS ERLIN2 Del 3prime_UTR_variant 1 8 MSH6 child 8_37615707_GTG_MSH6 1 1 1 T 7 T Repeat-mediated e5fc05d6-328b-11e6-a7cf-80090e01a414 15_101570086_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 101570086 CA C 420 PASS LRRK1 Del intronic 1 7 MSH6 child 15_101570086_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e5fcdc70-3283-11e6-901a-b6959cdf095d X_55238125_CTC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA X 55238125 CT C 420 PASS - Del - 1 7 POLE child X_55238125_CTC_POLE 1 1 1 T 6 T Repeat-mediated e602ac3e-3276-11e6-998e-ba48fa52e078 8_88361612_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 88361612 AT A 300 PASS CNBD1 Del intronic 1 9 MSH6 child 8_88361612_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e603638a-3272-11e6-b09c-a7fe7146d362 10_16985003_AATAGT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 10 16985003 A ATAGT 480 PASS CUBN Ins intronic 4 0 CHK2 child 10_16985003_AATAGT_CHK2 4 4 - - - - Ins e6125014-328d-11e6-9230-fb250e01a414 3_1773059_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 1773059 GA G 300 PASS - Del - 1 8 MSH6 child 3_1773059_GAG_MSH6 1 1 1 A 7 A Repeat-mediated e62617cc-329a-11e6-b74d-b59fcc638e3d 18_68218545_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 68218545 TA T 642 PASS - Del - 1 9 MSH6 child 18_68218545_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e63da9b2-328d-11e6-bfa2-581f0e01a414 7_73145263_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 73145263 GA G 420 PASS - Del - 1 9 MSH6 child 7_73145263_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e63efa5c-328c-11e6-bba4-c0bdcc638e3d 9_2757131_AAT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 9 2757131 A AT 540 PASS - Ins - 1 2 NUDT1 child 9_2757131_AAT_NUDT1 1 1 - - - - Ins e64ec8f4-3284-11e6-99f7-076ea2c71c31 12_47321284_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 47321284 AC A 600 PASS - Del - 1 2 MSH6 child 12_47321284_ACA_MSH6 1 1 1 C 1 C Repeat-mediated e658eac0-326e-11e6-acc7-e55219a91649 1_205583283_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 205583283 CA C 420 PASS ELK4 Del 3prime_UTR_variant 1 5 MSH6 child 1_205583283_CAC_MSH6 1 1 1 A 4 A Repeat-mediated e663e1a6-3286-11e6-a284-4b89a2c71c31 4_34004419_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 34004419 CT C 412 PASS RP11-79E3.3 Del intronic 1 8 MSH6 child 4_34004419_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e6642cc6-3275-11e6-98dc-d270cde16804 22_48373571_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 22 48373571 AT A 420 PASS - Del - 1 9 MSH6 child 22_48373571_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e664dadc-3256-11e6-b4d0-327a7872c165 11_101213362_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 101213362 T TA 540 PASS - Ins - 1 9 MSH6 child 11_101213362_TTA_MSH6 1 1 - - - - Ins e6671a94-3289-11e6-bbaf-7c090e01a414 19_21727346_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 21727346 GT G 660 PASS - Del - 1 9 MSH6 child 19_21727346_GTG_MSH6 1 1 1 T 8 T Repeat-mediated e66b929e-3294-11e6-ba9e-5c48a178171f 13_86128766_CCA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 13 86128766 C CA 360 PASS - Ins - 1 6 NEIL1 child 13_86128766_CCA_NEIL1 1 1 - - - - Ins e66fd06c-328e-11e6-b960-ae6919a91649 15_52037419_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 15 52037419 CA C 300 PASS LYSMD2 Del intronic 1 7 NEIL1 child 15_52037419_CAC_NEIL1 1 1 1 A 6 A Repeat-mediated e671f394-325a-11e6-8340-da9012ae24cf 6_165191248_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 165191248 CA C 480 PASS - Del - 1 8 MSH6 child 6_165191248_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e67331da-329d-11e6-bc2c-2a5e25c9da85 4_63413143_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 63413143 CT C 300 PASS - Del - 1 8 MSH6 child 4_63413143_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e6748508-328e-11e6-b6a6-1f1e0e01a414 4_152633793_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 152633793 CA C 300 PASS PET112 Del intronic 1 9 MSH6 child 4_152633793_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e681cf60-3284-11e6-aa7b-37792aaffa45 5_175390144_CAGC . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 5 175390144 CAG C 303 PASS THOC3 Del intronic 2 1 POLE child 5_175390144_CAGC_POLE 2 2 1 A 0 - Microhomology-mediated e68ccb08-3299-11e6-b549-1e5325c9da85 10_5307136_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 5307136 GT G 600 PASS RP11-445P17.8 Del downstream 1 5 MSH6 child 10_5307136_GTG_MSH6 1 1 1 T 4 T Repeat-mediated e68ed3b2-3258-11e6-8340-da9012ae24cf 6_26889298_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 26889298 AT A 391 PASS - Del - 1 6 MSH6 child 6_26889298_ATA_MSH6 1 1 1 T 5 T Repeat-mediated e69110cc-3272-11e6-a5d0-4fd14a47a305 2_43983655_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 43983655 TA T 660 PASS PLEKHH2 Del intronic 1 5 MSH6 child 2_43983655_TAT_MSH6 1 1 1 A 4 A Repeat-mediated e6a0690c-334c-11e6-b3a1-d0f2137bb207 5_163341107_TTA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 5 163341107 T TA 420 PASS - Ins - 1 7 FANCC child 5_163341107_TTA_FANCC 1 1 - - - - Ins e6b999d6-32a2-11e6-bc66-17b4cc638e3d 8_102500285_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 102500285 C CA 600 PASS GRHL2 Ins upstream 1 1 MSH6 child 8_102500285_CCA_MSH6 1 1 - - - - Ins e6bc83c6-3284-11e6-9f6f-202d36fc2f7d 5_175434513_GAG . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 5 175434513 GA G 506 PASS - Del - 1 9 NUDT1 child 5_175434513_GAG_NUDT1 1 1 1 A 8 A Repeat-mediated e6cc6c26-328b-11e6-88c1-95c36f39e758 14_41673658_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 41673658 CT C 600 PASS - Del - 1 9 MSH6 child 14_41673658_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e6d482f2-328c-11e6-8952-77c36f39e758 10_86781889_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 86781889 TA T 480 PASS - Del - 1 8 MSH6 child 10_86781889_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e6d5fe20-3273-11e6-8e2a-7f03630e6611 X_57020480_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA X 57020480 AT A 300 PASS SPIN3 Del downstream 1 7 FANCC child X_57020480_ATA_FANCC 1 1 1 T 6 T Repeat-mediated e6eb6b5c-328c-11e6-a2cb-f3ac12ae24cf 5_96408552_AGACCTCATCCCTTA . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 5 96408552 AGACCTCATCCCTT A 720 PASS - Del - 13 1 CHK2 child 5_96408552_AGACCTCATCCCTTA_CHK2 13 >=10 2 GA 0 - Microhomology-mediated e6ff619a-326c-11e6-b9f4-5d1d694da5d2 14_40710959_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 40710959 CT C 540 PASS - Del - 1 9 MSH6 child 14_40710959_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e7149fa6-328f-11e6-bb1e-70e16f39e758 X_126748667_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 126748667 GT G 600 PASS - Del - 1 9 MSH6 child X_126748667_GTG_MSH6 1 1 1 T 8 T Repeat-mediated e71609c8-3257-11e6-91d3-a68412ae24cf 7_104884187_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 104884187 CA C 360 PASS SRPK2 Del intronic 1 9 MSH6 child 7_104884187_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e718be76-3274-11e6-bea5-e783a20b69d5 13_89852838_GGTTA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 13 89852838 G GTTA 300 PASS - Ins - 3 5 EXO1 child 13_89852838_GGTTA_EXO1 3 3 - - - - Ins e71e5d92-326d-11e6-9f48-94df41c4520d 12_101510032_TGT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 101510032 TG T 540 PASS ANO4 Del intronic 1 6 MSH6 child 12_101510032_TGT_MSH6 1 1 1 G 5 G Repeat-mediated e7216304-328e-11e6-bec1-ca1d0e01a414 X_133454646_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 133454646 AT A 300 PASS - Del - 1 7 MSH6 child X_133454646_ATA_MSH6 1 1 1 T 6 T Repeat-mediated e72b7f72-326d-11e6-9793-9a8fb0dab373 13_111695735_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 111695735 GA G 360 PASS - Del - 1 7 MSH6 child 13_111695735_GAG_MSH6 1 1 1 A 6 A Repeat-mediated e73e28ec-32a0-11e6-94ca-0aaecc638e3d X_77213235_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 77213235 G GT 420 PASS ATP7A Ins intronic 1 8 MSH6 child X_77213235_GGT_MSH6 1 1 - - - - Ins e74182f0-3253-11e6-bf41-357a7872c165 10_23608313_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 23608313 AT A 420 PASS C10orf67 Del intronic 1 9 MSH6 child 10_23608313_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e742da16-327a-11e6-a6f2-281f630e6611 8_72980131_CCTCAT . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 8 72980131 C CTCAT 300 PASS TRPA1 Ins intronic 4 3 CHK2 child 8_72980131_CCTCAT_CHK2 4 4 - - - - Ins e743510c-3280-11e6-a1d1-b18df4b7c17d 1_70109554_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 70109554 TA T 300 PASS LRRC7 Del intronic 1 9 FANCC child 1_70109554_TAT_FANCC 1 1 1 A 8 A Repeat-mediated e74675d4-3254-11e6-bc65-c9667872c165 13_22788066_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 22788066 A AT 300 PASS - Ins - 1 4 MSH6 child 13_22788066_AAT_MSH6 1 1 - - - - Ins e74cf45e-328b-11e6-bd84-429305ad5bc4 1_46017128_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 46017128 CT C 600 PASS AKR1A1 Del intronic 1 5 MSH6 child 1_46017128_CTC_MSH6 1 1 1 T 4 T Repeat-mediated e7505950-3277-11e6-92d2-c259c225ee11 3_116648432_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 116648432 CA C 600 PASS LSAMP Del intronic 1 7 MSH6 child 3_116648432_CAC_MSH6 1 1 1 A 6 A Repeat-mediated e752a43a-3272-11e6-975f-8246cab49462 16_29440753_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 29440753 CA C 340 PASS SNX29P2 Del intronic 1 9 MSH6 child 16_29440753_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e763ce3a-328c-11e6-b9c4-751d0e01a414 5_43438889_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 43438889 TA T 360 PASS - Del - 1 4 MSH6 child 5_43438889_TAT_MSH6 1 1 1 A 3 A Repeat-mediated e772d10e-3288-11e6-b093-c9c7b0dab373 2_128582320_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 128582320 C CA 480 PASS - Ins - 1 8 MSH6 child 2_128582320_CCA_MSH6 1 1 - - - - Ins e77338ec-326f-11e6-a814-019f38e8a824 18_70307973_CAC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 18 70307973 CA C 420 PASS - Del - 1 7 NUDT1 child 18_70307973_CAC_NUDT1 1 1 1 A 6 A Repeat-mediated e7748680-3273-11e6-83ef-69fb06e9a829 18_24916528_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 24916528 G GT 480 PASS RP11-739N10.1 Ins nc_variant 1 6 MSH6 child 18_24916528_GGT_MSH6 1 1 - - - - Ins e775787a-326d-11e6-92dd-fda8977b3f23 10_97513752_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 97513752 CA C 300 PASS ENTPD1 Del upstream 1 8 MSH6 child 10_97513752_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e7848178-328e-11e6-9c89-8d090e01a414 1_65159236_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 65159236 G GT 420 PASS CACHD1 Ins downstream 1 6 MSH6 child 1_65159236_GGT_MSH6 1 1 - - - - Ins e7997eca-329d-11e6-91d0-016425c9da85 7_26490912_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 26490912 AT A 480 PASS AC004540.5 Del intronic 1 8 MSH6 child 7_26490912_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e79a2a16-3287-11e6-a284-4b89a2c71c31 4_126569916_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 126569916 GA G 420 PASS - Del - 1 9 MSH6 child 4_126569916_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e79ce8de-3280-11e6-9349-e55f87a84063 20_50250333_AAAAGA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 20 50250333 AAAAG A 300 PASS ATP9A Del intronic 4 4 POLM child 20_50250333_AAAAGA_POLM 4 4 4 AAAG 3 AAAG Repeat-mediated e7a0bafc-3273-11e6-9c0f-f6f412ae24cf 16_60988637_CTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 16 60988637 CT C 420 PASS - Del - 1 7 EXO1 child 16_60988637_CTC_EXO1 1 1 1 T 6 T Repeat-mediated e7a7ef6c-328b-11e6-9c12-b6c430158702 2_167809233_GTG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 2 167809233 GT G 300 PASS XIRP2 Del intronic 1 9 POLM child 2_167809233_GTG_POLM 1 1 1 T 8 T Repeat-mediated e7aad80e-329e-11e6-aea7-956725c9da85 3_27982221_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 27982221 AT A 804 PASS - Del - 1 9 MSH6 child 3_27982221_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e7ab73ba-328d-11e6-bb1e-70e16f39e758 X_3094500_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 3094500 GA G 660 PASS - Del - 1 9 MSH6 child X_3094500_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e7ad0808-3286-11e6-a5b3-3f1ebce6aa09 7_43744088_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 43744088 AT A 420 PASS COA1 Del intronic 1 6 MSH6 child 7_43744088_ATA_MSH6 1 1 1 T 5 T Repeat-mediated e7ad8914-3276-11e6-a71d-236235cec73b X_67486696_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 67486696 CA C 600 PASS OPHN1 Del intronic 1 8 MSH6 child X_67486696_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e7b098d8-329f-11e6-aea7-956725c9da85 3_94143439_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 94143439 AT A 480 PASS - Del - 1 9 MSH6 child 3_94143439_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e7b1f9f0-3270-11e6-9f1d-8260f7be831b 14_38459104_TAT . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 14 38459104 TA T 540 PASS - Del - 1 5 CHK2 child 14_38459104_TAT_CHK2 1 1 1 A 4 A Repeat-mediated e7b2c7e4-3276-11e6-b1f2-34f6620e6611 1_172891529_GGA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 1 172891529 G GA 597 PASS RP1-15D23.2 Ins intronic 1 6 CHK2 child 1_172891529_GGA_CHK2 1 1 - - - - Ins e7b3fe5e-326f-11e6-b9a6-d04066a58581 15_64042598_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 15 64042598 GA G 300 PASS HERC1 Del intronic 1 9 EXO1 parent 15_64042598_GAG_EXO1 1 1 1 A 8 A Repeat-mediated e7cc748e-3288-11e6-a5b3-3f1ebce6aa09 7_73028572_AAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 73028572 A AC 540 PASS MLXIPL Ins intronic 1 7 MSH6 child 7_73028572_AAC_MSH6 1 1 - - - - Ins e7d18fd6-3284-11e6-8ebc-68f1bbe6aa09 18_58979059_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 58979059 GT G 491 PASS - Del - 1 4 MSH6 child 18_58979059_GTG_MSH6 1 1 1 T 3 T Repeat-mediated e7d4371a-328c-11e6-9c89-8d090e01a414 1_215046472_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 215046472 AT A 420 PASS - Del - 1 9 MSH6 child 1_215046472_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e7d7c8f8-3278-11e6-a391-f6d67d6a9fc7 6_97585415_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 97585415 CT C 300 PASS MMS22L Del downstream 1 9 MSH6 child 6_97585415_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e7da7048-328d-11e6-9f30-37ab4430f757 11_110433436_AAGA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 11 110433436 AAG A 720 PASS - Del - 2 2 POLE child 11_110433436_AAGA_POLE 2 2 2 AG 1 AG Repeat-mediated e7e17ec2-328f-11e6-9230-fb250e01a414 3_130623190_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 130623190 CT C 360 PASS ATP2C1 Del intronic 1 8 MSH6 child 3_130623190_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e7e71c92-3285-11e6-b093-c9c7b0dab373 2_120758142_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 120758142 GT G 420 PASS - Del - 1 8 MSH6 child 2_120758142_GTG_MSH6 1 1 1 T 7 T Repeat-mediated e7f0edec-3273-11e6-9e18-3a69671699ea 10_102283055_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 102283055 AT A 420 PASS SEC31B Del upstream 1 9 MSH6 child 10_102283055_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e7f47b3a-3258-11e6-a39a-dc8512ae24cf 8_78024036_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 78024036 AT A 540 PASS - Del - 1 7 MSH6 child 8_78024036_ATA_MSH6 1 1 1 T 6 T Repeat-mediated e803da56-328c-11e6-aa75-90c36f39e758 13_107814380_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 107814380 AT A 480 PASS - Del - 1 5 MSH6 child 13_107814380_ATA_MSH6 1 1 1 T 4 T Repeat-mediated e808d18e-3320-11e6-8c1c-2deb137bb207 15_29335662_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 15 29335662 CT C 300 PASS APBA2 Del intronic 1 6 EXO1 child 15_29335662_CTC_EXO1 1 1 1 T 5 T Repeat-mediated e81961be-32a0-11e6-aea7-956725c9da85 3_164739513_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 164739513 AT A 420 PASS SI Del intronic 1 6 MSH6 child 3_164739513_ATA_MSH6 1 1 1 T 5 T Repeat-mediated e81e22d8-327a-11e6-81cf-37408a20d9eb 8_113221944_AAC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 8 113221944 A AC 300 PASS - Ins - 1 1 EXO1 child 8_113221944_AAC_EXO1 1 1 - - - - Ins e81e7e98-328b-11e6-8459-82090e01a414 12_10438200_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 10438200 G GT 300 PASS KLRD1 Ins intronic 1 7 MSH6 child 12_10438200_GGT_MSH6 1 1 - - - - Ins e8302d46-3286-11e6-b32c-fd87a2c71c31 5_71807095_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 71807095 AT A 660 PASS ZNF366 Del upstream 1 9 MSH6 child 5_71807095_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e831f07c-3272-11e6-9522-b51a987b3f23 12_92316130_TAACT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 12 92316130 TAAC T 420 PASS - Del - 3 2 NUDT1 child 12_92316130_TAACT_NUDT1 3 3 3 AAC 1 AAC Repeat-mediated e831f396-327d-11e6-9390-53fe684da5d2 16_6275530_TCT . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 16 6275530 TC T 360 PASS RBFOX1 Del intronic 1 5 NEIL1 child 16_6275530_TCT_NEIL1 1 1 1 C 4 C Repeat-mediated e84f4714-328e-11e6-9d24-ade56f39e758 7_21857313_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 21857313 AT A 600 PASS DNAH11 Del intronic 1 9 MSH6 child 7_21857313_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e8562456-329a-11e6-ae71-0c5325c9da85 1_50827419_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 50827419 GA G 1080 PASS - Del - 1 6 MSH6 child 1_50827419_GAG_MSH6 1 1 1 A 5 A Repeat-mediated e856976a-329a-11e6-b74d-b59fcc638e3d 18_68886318_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 68886318 AT A 600 PASS RP11-47G4.2 Del intronic 1 5 MSH6 child 18_68886318_ATA_MSH6 1 1 1 T 4 T Repeat-mediated e858660c-328c-11e6-bd84-429305ad5bc4 1_185442455_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 185442455 CT C 660 PASS - Del - 1 9 MSH6 child 1_185442455_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e85ae9f8-3274-11e6-a862-bc9becf1e924 1_167994330_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 167994330 AT A 300 PASS DCAF6 Del intronic 1 8 MSH6 child 1_167994330_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e85fcd12-328b-11e6-a7cf-80090e01a414 15_102131431_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 102131431 CT C 300 PASS - Del - 1 9 MSH6 child 15_102131431_CTC_MSH6 1 1 1 T 8 T Repeat-mediated e868aa86-328b-11e6-8e38-06cf69062303 4_41141857_TTAT . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 4 41141857 TTA T 300 PASS APBB2 Del intronic 2 3 CHK2 child 4_41141857_TTAT_CHK2 2 2 2 TA 2 TA Repeat-mediated e874bc46-329e-11e6-b696-dd6225c9da85 5_118839062_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 118839062 AT A 720 PASS HSD17B4 Del intronic 1 9 MSH6 child 5_118839062_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e8783b2a-3279-11e6-9dfe-7ec135761512 1_108765447_AAATTA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 1 108765447 AAATT A 471 PASS NBPF4 Del downstream 4 1 FANCC parent 1_108765447_AAATTA_FANCC 4 4 1 A 0 - Microhomology-mediated e879b9bc-3280-11e6-a1d1-b18df4b7c17d 1_70909639_TCTTAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 70909639 TCTTA T 300 PASS CTH Del downstream 4 1 FANCC child 1_70909639_TCTTAT_FANCC 4 4 3 CTT 0 - Microhomology-mediated e87fbc24-3292-11e6-9d24-ade56f39e758 7_124471587_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 124471587 T TA 480 PASS POT1 Ins intronic 1 8 MSH6 child 7_124471587_TTA_MSH6 1 1 - - - - Ins e87fe9a6-3283-11e6-96d6-e945ee3c4f5d 3_11477637_AAACA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 3 11477637 AAAC A 540 PASS ATG7 Del intronic 3 2 POLB child 3_11477637_AAACA_POLB 3 3 3 AAC 1 AAC Repeat-mediated e8834f88-3274-11e6-a42e-2f51e7d0bdd7 1_168834051_ACA . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 1 168834051 AC A 300 PASS - Del - 1 1 POLB child 1_168834051_ACA_POLB 1 1 0 - 0 C None e88930a6-328d-11e6-b9c4-751d0e01a414 5_111944387_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 111944387 TA T 480 PASS - Del - 1 8 MSH6 child 5_111944387_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e8b11ac0-3275-11e6-a0a7-943dc225ee11 1_242015655_CCA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 1 242015655 C CA 720 PASS EXO1 Ins frameshift 1 1 EXO1 parent 1_242015655_CCA_EXO1 1 1 - - - - Ins e8b73768-329b-11e6-a5cf-205325c9da85 11_128892802_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 128892802 TA T 480 PASS ARHGAP32 Del intronic 1 7 MSH6 child 11_128892802_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e8bfb398-3287-11e6-8d3f-2a9c20e7b7a8 18_45723059_CTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 18 45723059 CT C 480 PASS ZBTB7C Del intronic 1 8 POLE child 18_45723059_CTC_POLE 1 1 1 T 7 T Repeat-mediated e8ccd6d8-3294-11e6-b574-0154e7d0bdd7 20_42416092_CCT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 20 42416092 C CT 420 PASS - Ins - 1 8 FANCC child 20_42416092_CCT_FANCC 1 1 - - - - Ins e8cda45c-3323-11e6-aa06-7ca120e7b7a8 7_25260324_GAG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 7 25260324 GA G 660 PASS NPVF Del downstream 1 8 CHK2 child 7_25260324_GAG_CHK2 1 1 1 A 7 A Repeat-mediated e8d20b98-326d-11e6-9f48-94df41c4520d 12_102016511_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 102016511 TA T 300 PASS MYBPC1 Del intronic 1 9 MSH6 child 12_102016511_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e8e387f2-329e-11e6-aea7-956725c9da85 3_28392742_AATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 28392742 AAT A 300 PASS AZI2 Del upstream 2 6 MSH6 child 3_28392742_AATA_MSH6 2 2 2 AT 5 AT Repeat-mediated e8f05a38-3274-11e6-9210-65fa620e6611 5_36612531_TTA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 36612531 T TA 600 PASS SLC1A3 Ins intronic 1 5 EXO1 parent 5_36612531_TTA_EXO1 1 1 - - - - Ins e8f1d42e-328a-11e6-8353-a446fd44d094 1_199973786_AGCA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 199973786 AGC A 420 PASS RNU6-716P Del downstream 2 1 FANCC child 1_199973786_AGCA_FANCC 2 2 1 G 0 - Microhomology-mediated e8f2d5f8-3286-11e6-99f7-076ea2c71c31 12_71998587_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 71998587 C CA 360 PASS ZFC3H1 Ins downstream 1 8 MSH6 child 12_71998587_CCA_MSH6 1 1 - - - - Ins e8f4e76a-3292-11e6-b14c-5e337a852e0e X_56027234_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA X 56027234 CT C 360 PASS RP13-188A5.1 Del intronic 1 9 CHK2 child X_56027234_CTC_CHK2 1 1 1 T 8 T Repeat-mediated e8f6ebc0-329f-11e6-ae71-0c5325c9da85 1_89797927_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 89797927 A AT 960 PASS - Ins - 1 4 MSH6 child 1_89797927_AAT_MSH6 1 1 - - - - Ins e8f7d700-3287-11e6-a21c-b819bce6aa09 X_144680828_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 144680828 AT A 420 PASS - Del - 1 6 MSH6 child X_144680828_ATA_MSH6 1 1 1 T 5 T Repeat-mediated e8faa738-3272-11e6-940c-da0fead19ece 11_97546008_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 11 97546008 TA T 780 PASS - Del - 1 9 NEIL1 child 11_97546008_TAT_NEIL1 1 1 1 A 8 A Repeat-mediated e8fc6dea-32a2-11e6-aea7-956725c9da85 3_87636052_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 87636052 C CA 360 PASS - Ins - 1 2 MSH6 child 3_87636052_CCA_MSH6 1 1 - - - - Ins e8fc75e4-326e-11e6-a20c-f31d4b47a305 2_22097251_GGT . HAP1_POLM_21 HAP1_parental_75_WT_DNA 2 22097251 G GT 900 PASS AC067959.1 Ins intronic 1 7 POLM parent 2_22097251_GGT_POLM 1 1 - - - - Ins e90eb15a-328c-11e6-bd84-429305ad5bc4 1_186131258_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 186131258 CT C 537 PASS HMCN1 Del intronic 1 6 MSH6 child 1_186131258_CTC_MSH6 1 1 1 T 5 T Repeat-mediated e9162134-328b-11e6-a32d-75090e01a414 14_87070842_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 87070842 G GA 540 PASS - Ins - 1 3 MSH6 child 14_87070842_GGA_MSH6 1 1 - - - - Ins e9231fa0-328c-11e6-8256-94c36f39e758 17_69883939_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 17 69883939 AT A 480 PASS - Del - 1 9 MSH6 child 17_69883939_ATA_MSH6 1 1 1 T 8 T Repeat-mediated e923d2c0-3281-11e6-b0da-c38569062303 12_64090869_TAT . HAP1_POLE_34 HAP1_parental_75_WT_DNA 12 64090869 TA T 286 PASS - Del - 1 6 POLE parent 12_64090869_TAT_POLE 1 1 1 A 5 A Repeat-mediated e92afd7c-3284-11e6-8ebc-68f1bbe6aa09 18_59714010_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 59714010 TA T 300 PASS PIGN Del intronic 1 7 MSH6 child 18_59714010_TAT_MSH6 1 1 1 A 6 A Repeat-mediated e93d3fb4-3275-11e6-a5d0-4fd14a47a305 2_43530089_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 43530089 T TA 300 PASS THADA Ins intronic 1 7 MSH6 child 2_43530089_TTA_MSH6 1 1 - - - - Ins e94a693e-328c-11e6-b4fe-93c36f39e758 12_83167922_ATGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 83167922 ATG A 300 PASS TMTC2 Del intronic 2 4 MSH6 child 12_83167922_ATGA_MSH6 2 2 2 TG 3 TG Repeat-mediated e94b85d2-326c-11e6-adc2-b7204b47a305 18_25176262_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 25176262 GT G 300 PASS RP11-739N10.1 Del upstream 1 9 MSH6 child 18_25176262_GTG_MSH6 1 1 1 T 8 T Repeat-mediated e9536398-329d-11e6-91d0-016425c9da85 7_26879690_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 26879690 TA T 420 PASS SKAP2 Del intronic 1 9 MSH6 child 7_26879690_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e95dace0-3284-11e6-9b68-79e41da8ec0e 2_84289318_GGT . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 2 84289318 G GT 480 PASS - Ins - 1 2 EXO1 child 2_84289318_GGT_EXO1 1 1 - - - - Ins e960b174-3284-11e6-83f8-60792aaffa45 7_152223368_TAT . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 7 152223368 TA T 480 PASS - Del - 1 9 POLE child 7_152223368_TAT_POLE 1 1 1 A 8 A Repeat-mediated e9655868-328f-11e6-9432-c0e56f39e758 5_90699059_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 90699059 GA G 720 PASS - Del - 1 9 MSH6 child 5_90699059_GAG_MSH6 1 1 1 A 8 A Repeat-mediated e96ab99c-3281-11e6-a1d1-b18df4b7c17d 1_218797833_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 1 218797833 CT C 600 PASS - Del - 1 7 FANCC child 1_218797833_CTC_FANCC 1 1 1 T 6 T Repeat-mediated e96daf68-3271-11e6-81c8-19f506e9a829 2_74348676_GAGGAGAG . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 2 74348676 GAGGAGA G 420 PASS - Del - 6 1 FANCC child 2_74348676_GAGGAGAG_FANCC 6 6 3 AGG 0 - Microhomology-mediated e9713946-326f-11e6-9c6e-9f402a2d4995 2_77210957_GCG . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 2 77210957 GC G 360 PASS LRRTM4 Del intronic 1 2 POLB child 2_77210957_GCG_POLB 1 1 1 C 1 C Repeat-mediated e97d760c-3274-11e6-975f-8246cab49462 16_60358923_GGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 60358923 G GA 480 PASS - Ins - 1 6 MSH6 child 16_60358923_GGA_MSH6 1 1 - - - - Ins e98fdaca-3280-11e6-ab87-22bd9b6d3b88 10_28313497_CTC . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 10 28313497 CT C 540 PASS RP11-218D6.4 Del intronic 1 9 EXO1 child 10_28313497_CTC_EXO1 1 1 1 T 8 T Repeat-mediated e99502de-3299-11e6-b74d-b59fcc638e3d 18_4110014_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 4110014 CA C 1080 PASS DLGAP1 Del intronic 1 9 MSH6 child 18_4110014_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e9961d98-3273-11e6-a76d-26961565c797 1_82959807_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 82959807 TA T 360 PASS - Del - 1 4 EXO1 child 1_82959807_TAT_EXO1 1 1 1 A 3 A Repeat-mediated e9977b94-328b-11e6-919e-92c36f39e758 2_28269159_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 28269159 TA T 540 PASS BRE Del intronic 1 8 MSH6 child 2_28269159_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e9978a16-328c-11e6-b43c-7ec36f39e758 16_81886956_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 81886956 CA C 480 PASS PLCG2 Del intronic 1 9 MSH6 child 16_81886956_CAC_MSH6 1 1 1 A 8 A Repeat-mediated e99d6d08-3298-11e6-800c-01f9d8b4fa2c 5_137856635_AAT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 5 137856635 A AT 780 PASS ETF1 Ins intronic 1 8 NUDT1 child 5_137856635_AAT_NUDT1 1 1 - - - - Ins e99da7c6-3321-11e6-ada4-b8297e6a9fc7 13_36419229_ACA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 13 36419229 AC A 480 PASS DCLK1 Del intronic 1 1 EXO1 child 13_36419229_ACA_EXO1 1 1 0 - 0 C None e99f3f36-3255-11e6-9d5a-0c8112ae24cf 9_5839211_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 5839211 TA T 300 PASS - Del - 1 8 MSH6 child 9_5839211_TAT_MSH6 1 1 1 A 7 A Repeat-mediated e9a3e97a-328a-11e6-a941-7397a178171f 6_42797060_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 6 42797060 AT A 300 PASS GLTSCR1L Del frameshift 1 3 FANCC child 6_42797060_ATA_FANCC 1 1 1 T 2 T Repeat-mediated e9aad9c8-3272-11e6-b4ee-9405147bb207 10_13052247_CCA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 10 13052247 C CA 300 PASS CCDC3 Ins intronic 1 6 MSH6 parent 10_13052247_CCA_MSH6 1 1 - - - - Ins e9ac403e-328f-11e6-bc00-90df977b3f23 X_77109128_CTAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA X 77109128 CTA C 540 PASS MAGT1 Del intronic 2 1 NEIL1 child X_77109128_CTAC_NEIL1 2 2 1 T 0 - Microhomology-mediated e9bd18de-328d-11e6-9230-fb250e01a414 3_2631249_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 2631249 CT C 300 PASS CNTN4 Del intronic 1 8 MSH6 child 3_2631249_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e9be7b2e-3289-11e6-a19d-3c763adbad45 4_114391445_ACA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 4 114391445 AC A 660 PASS CAMK2D Del intronic 1 8 NUDT1 parent 4_114391445_ACA_NUDT1 1 1 1 C 7 C Repeat-mediated e9c508c8-3323-11e6-9c20-925172d7bc54 3_22425011_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 3 22425011 GA G 360 PASS - Del - 1 8 EXO1 child 3_22425011_GAG_EXO1 1 1 1 A 7 A Repeat-mediated e9c6b8a4-3255-11e6-bc65-c9667872c165 13_100389231_CCA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 100389231 C CA 720 PASS CLYBL Ins intronic 1 7 MSH6 child 13_100389231_CCA_MSH6 1 1 - - - - Ins e9ccbc6a-3280-11e6-8973-e1308e4678dd 11_42300832_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 11 42300832 CT C 300 PASS - Del - 1 9 FANCC child 11_42300832_CTC_FANCC 1 1 1 T 8 T Repeat-mediated e9cffdb6-328b-11e6-b8e6-91c36f39e758 11_24550771_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 24550771 CA C 600 PASS LUZP2 Del intronic 1 8 MSH6 child 11_24550771_CAC_MSH6 1 1 1 A 7 A Repeat-mediated e9de4518-3288-11e6-b9eb-c78fa2c71c31 6_105989611_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 105989611 TA T 480 PASS - Del - 1 9 MSH6 child 6_105989611_TAT_MSH6 1 1 1 A 8 A Repeat-mediated e9de5f62-3274-11e6-a862-bc9becf1e924 1_168484179_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 168484179 CT C 660 PASS - Del - 1 8 MSH6 child 1_168484179_CTC_MSH6 1 1 1 T 7 T Repeat-mediated e9df1832-3254-11e6-89d3-d29498816cf3 2_153179790_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 153179790 AT A 420 PASS - Del - 1 8 MSH6 child 2_153179790_ATA_MSH6 1 1 1 T 7 T Repeat-mediated e9e1d43e-3289-11e6-8e41-628fa178171f 22_35692341_CCTTTC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 22 35692341 CCTTT C 960 PASS HMGXB4 Del downstream 4 1 FANCC child 22_35692341_CCTTTC_FANCC 4 4 1 C 0 - Microhomology-mediated e9e2a32e-3346-11e6-840b-09aab0dab373 1_95810770_GTG . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 1 95810770 GT G 300 PASS - Del - 1 8 FANCC child 1_95810770_GTG_FANCC 1 1 1 T 7 T Repeat-mediated e9eaa5c6-3277-11e6-9065-cc4890e2c2e6 1_216558020_GGT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 216558020 G GT 420 PASS USH2A Ins intronic 1 7 MSH6 parent 1_216558020_GGT_MSH6 1 1 - - - - Ins e9fd8bf8-32a1-11e6-a04f-c66a25c9da85 6_167666059_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 167666059 CA C 720 PASS - Del - 1 8 MSH6 child 6_167666059_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ea136d66-3278-11e6-8629-39703cfdbd24 4_176001864_ACTA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 4 176001864 ACT A 360 PASS - Del - 2 3 CHK2 child 4_176001864_ACTA_CHK2 2 2 2 CT 2 CT Repeat-mediated ea190d82-329d-11e6-a5cf-e5abcc638e3d 9_125152239_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 125152239 TA T 540 PASS PTGS1 Del intronic 1 9 MSH6 child 9_125152239_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ea19c90c-328e-11e6-919e-92c36f39e758 2_227985651_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 227985651 TA T 780 PASS COL4A4 Del intronic 1 8 MSH6 child 2_227985651_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ea2263a2-3278-11e6-a391-f6d67d6a9fc7 6_98250580_AATTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 98250580 AATT A 540 PASS - Del - 3 4 MSH6 child 6_98250580_AATTA_MSH6 3 3 3 ATT 3 ATT Repeat-mediated ea2b569e-3276-11e6-8703-f161e7d0bdd7 X_137283620_TAT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA X 137283620 TA T 360 PASS - Del - 1 8 POLB child X_137283620_TAT_POLB 1 1 1 A 7 A Repeat-mediated ea2f7072-3270-11e6-9fba-41ebd8b4fa2c 11_25740115_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 25740115 C CT 728 PASS - Ins - 1 2 MSH6 child 11_25740115_CCT_MSH6 1 1 - - - - Ins ea32406e-3288-11e6-b9eb-c78fa2c71c31 6_106068621_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 6 106068621 TG T 480 PASS RP3-359N14.2 Del intronic 1 6 MSH6 child 6_106068621_TGT_MSH6 1 1 1 G 5 G Repeat-mediated ea3ec486-328f-11e6-9432-c0e56f39e758 5_90897238_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 90897238 AT A 300 PASS - Del - 1 7 MSH6 child 5_90897238_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ea49b0c6-3348-11e6-a997-309d38e8a824 4_46774876_AGTAGACAGTAGA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 46774876 AGTAGACAGTAG A 420 PASS COX7B2 Del intronic 11 1 FANCC child 4_46774876_AGTAGACAGTAGA_FANCC 11 >=10 1 G 0 - Microhomology-mediated ea4d1a56-3283-11e6-b14f-ffbe2daed38e X_83063065_TAT . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA X 83063065 TA T 360 PASS - Del - 1 4 POLB child X_83063065_TAT_POLB 1 1 1 A 3 A Repeat-mediated ea62c9a2-328b-11e6-8459-82090e01a414 12_10865357_TTA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 10865357 T TA 600 PASS YBX3 Ins intronic 1 7 MSH6 child 12_10865357_TTA_MSH6 1 1 - - - - Ins ea6d6d88-326f-11e6-b89d-b2d6b0dab373 4_28304337_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 28304337 GA G 420 PASS - Del - 1 5 MSH6 child 4_28304337_GAG_MSH6 1 1 1 A 4 A Repeat-mediated ea719e5a-329f-11e6-bc66-17b4cc638e3d 8_70467364_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 70467364 GA G 480 PASS SULF1 Del intronic 1 9 MSH6 child 8_70467364_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ea766f86-328e-11e6-8f31-bfe16f39e758 9_87025612_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 87025612 TA T 300 PASS - Del - 1 9 MSH6 child 9_87025612_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ea7f18be-3277-11e6-a5d0-4fd14a47a305 2_221184387_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 221184387 A AT 360 PASS AC114765.1 Ins intronic 1 0 MSH6 child 2_221184387_AAT_MSH6 1 1 - - - - Ins ea89558c-328a-11e6-938d-bbbd38e8a824 5_92005367_CTC . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 5 92005367 CT C 1020 PASS CTC-529L17.1 Del intronic 1 7 NUDT1 parent 5_92005367_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated ea9b1100-3285-11e6-90da-f3a469062303 6_135110697_CTGCTGGC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 6 135110697 CTGCTGG C 420 PASS - Del - 6 1 FANCC child 6_135110697_CTGCTGGC_FANCC 6 6 3 TGC 0 - Microhomology-mediated ea9c6680-3272-11e6-9065-cc4890e2c2e6 1_143393500_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 1 143393500 AT A 203 PASS RP11-435B5.5 Del intronic 1 8 MSH6 parent 1_143393500_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ea9f6b86-328c-11e6-bec1-ca1d0e01a414 X_43189704_TTCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 43189704 TTC T 480 PASS - Del - 2 8 MSH6 child X_43189704_TTCT_MSH6 2 2 2 TC 7 TC Repeat-mediated eaa4c9fc-3253-11e6-a4a7-35f212ae24cf 14_44264674_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 44264674 CA C 720 PASS - Del - 1 9 MSH6 child 14_44264674_CAC_MSH6 1 1 1 A 8 A Repeat-mediated eaaca97a-327f-11e6-b1df-d11c0e01a414 7_102475855_TTA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 7 102475855 T TA 400 PASS FBXL13 Ins intronic 1 4 FANCC parent 7_102475855_TTA_FANCC 1 1 - - - - Ins eab97926-3274-11e6-9162-5cdb6de4ab00 11_122551986_ATA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 11 122551986 AT A 480 PASS UBASH3B Del intronic 1 3 CHK2 child 11_122551986_ATA_CHK2 1 1 1 T 2 T Repeat-mediated eabbe2c0-328c-11e6-bd84-429305ad5bc4 1_187239741_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 187239741 CT C 480 PASS LINC01036 Del intronic 1 9 MSH6 child 1_187239741_CTC_MSH6 1 1 1 T 8 T Repeat-mediated eac4129e-326c-11e6-acc7-e55219a91649 1_43128550_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 1 43128550 CT C 420 PASS PPIH Del intronic 1 7 MSH6 child 1_43128550_CTC_MSH6 1 1 1 T 6 T Repeat-mediated eac920ca-3273-11e6-bfb2-2749c225ee11 12_105276151_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 105276151 GT G 586 PASS SLC41A2 Del intronic 1 8 MSH6 child 12_105276151_GTG_MSH6 1 1 1 T 7 T Repeat-mediated eaccebec-3291-11e6-a043-93e7977b3f23 3_172229838_ATGA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 3 172229838 ATG A 720 PASS TNFSF10 Del intronic 2 6 NEIL1 child 3_172229838_ATGA_NEIL1 2 2 2 TG 5 TG Repeat-mediated ead68758-328a-11e6-a8ac-a28ea2c71c31 3_139593555_CCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 139593555 C CA 360 PASS - Ins - 1 9 MSH6 child 3_139593555_CCA_MSH6 1 1 - - - - Ins eadb8424-3276-11e6-8703-f161e7d0bdd7 X_137972642_CAC . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA X 137972642 CA C 300 PASS FGF13 Del intronic 1 9 POLB child X_137972642_CAC_POLB 1 1 1 A 8 A Repeat-mediated eadba1a4-327e-11e6-9a18-69cfaa716c52 4_56253713_GAG . HAP1_POLB_35 HAP1_parental_75_WT_DNA 4 56253713 GA G 720 PASS RP11-177J6.1 Del upstream 1 1 POLB parent 4_56253713_GAG_POLB 1 1 0 - 0 A None eaeb4b0c-328a-11e6-b805-77090e01a414 2_109359254_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 109359254 AT A 581 PASS RANBP2 Del intronic 1 8 MSH6 child 2_109359254_ATA_MSH6 1 1 1 T 7 T Repeat-mediated eaeebebe-329d-11e6-bc66-17b4cc638e3d 8_27758181_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 27758181 TA T 540 PASS SCARA5 Del intronic 1 8 MSH6 child 8_27758181_TAT_MSH6 1 1 1 A 7 A Repeat-mediated eaefc47c-3274-11e6-af01-f818cd638e3d 15_89075125_GTCTAGAAACAGGTCTAAGGGAAGGAG . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 15 89075125 GTCTAGAAACAGGTCTAAGGGAAGGA G 300 PASS DET1 Del intronic 25 1 EXO1 child 15_89075125_GTCTAGAAACAGGTCTAAGGGAAGGAG_EXO1 25 >=10 5 TCTAG 0 - Microhomology-mediated eaf24d78-328d-11e6-9c89-8d090e01a414 1_12022337_TTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 12022337 T TC 300 PASS PLOD1 Ins intronic 1 1 MSH6 child 1_12022337_TTC_MSH6 1 1 - - - - Ins eaf745fe-3278-11e6-9dfe-7ec135761512 1_20297761_CTC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 1 20297761 CT C 660 PASS PLA2G2A Del downstream 1 9 FANCC parent 1_20297761_CTC_FANCC 1 1 1 T 8 T Repeat-mediated eaf789e0-3289-11e6-a32d-75090e01a414 14_60572255_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 60572255 CT C 300 PASS PCNXL4 Del intronic 1 8 MSH6 child 14_60572255_CTC_MSH6 1 1 1 T 7 T Repeat-mediated eaf81656-3326-11e6-ada1-2957fc77b11e 5_85209330_CCA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 5 85209330 C CA 600 PASS - Ins - 1 5 POLE child 5_85209330_CCA_POLE 1 1 - - - - Ins eafa2874-328b-11e6-ae53-96c36f39e758 15_37452800_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 37452800 AT A 600 PASS - Del - 1 9 MSH6 child 15_37452800_ATA_MSH6 1 1 1 T 8 T Repeat-mediated eafe7222-328a-11e6-8eee-76090e01a414 10_105520441_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 105520441 CT C 480 PASS SH3PXD2A Del intronic 1 9 MSH6 child 10_105520441_CTC_MSH6 1 1 1 T 8 T Repeat-mediated eb042a4c-32a2-11e6-b970-398625c9da85 20_36918167_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 36918167 GA G 480 PASS - Del - 1 9 MSH6 child 20_36918167_GAG_MSH6 1 1 1 A 8 A Repeat-mediated eb144fd8-3272-11e6-a539-0e5542c4520d 7_141250660_GGC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 141250660 G GC 660 PASS AGK Ins upstream 1 3 MSH6 child 7_141250660_GGC_MSH6 1 1 - - - - Ins eb196d06-328b-11e6-8952-77c36f39e758 10_22097126_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 22097126 CA C 420 PASS DNAJC1 Del intronic 1 7 MSH6 child 10_22097126_CAC_MSH6 1 1 1 A 6 A Repeat-mediated eb22e844-328c-11e6-b4fe-93c36f39e758 12_83655223_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 83655223 TA T 540 PASS - Del - 1 7 MSH6 child 12_83655223_TAT_MSH6 1 1 1 A 6 A Repeat-mediated eb24edc0-328b-11e6-aff5-85090e01a414 16_54249117_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 16 54249117 C CA 300 PASS - Ins - 1 2 MSH6 child 16_54249117_CCA_MSH6 1 1 - - - - Ins eb295736-3257-11e6-8acd-03a12aaffa45 7_93104384_TAAT . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 7 93104384 TAA T 420 PASS CALCR Del intronic 2 7 POLM child 7_93104384_TAAT_POLM 2 2 2 AA 5 A Repeat-mediated eb2d661a-326f-11e6-b89d-b2d6b0dab373 4_28442540_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 28442540 GA G 360 PASS RP11-123O22.1 Del intronic 1 7 MSH6 child 4_28442540_GAG_MSH6 1 1 1 A 6 A Repeat-mediated eb330766-326d-11e6-9d68-ac9acab49462 15_71341734_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 71341734 CT C 300 PASS LRRC49 Del intronic 1 8 MSH6 child 15_71341734_CTC_MSH6 1 1 1 T 7 T Repeat-mediated eb330d1a-3286-11e6-8064-0e1e987b3f23 6_48752273_GAG . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 6 48752273 GA G 540 PASS - Del - 1 9 NEIL1 parent 6_48752273_GAG_NEIL1 1 1 1 A 8 A Repeat-mediated eb365982-328d-11e6-bd84-429305ad5bc4 1_14594031_GGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 14594031 G GT 360 PASS - Ins - 1 5 MSH6 child 1_14594031_GGT_MSH6 1 1 - - - - Ins eb3972b4-3253-11e6-aedc-3df212ae24cf 19_13279024_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 13279024 GT G 300 PASS - Del - 1 8 MSH6 child 19_13279024_GTG_MSH6 1 1 1 T 7 T Repeat-mediated eb3c9a76-3324-11e6-ae91-9acb70cce0de 4_110684410_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 4 110684410 AT A 540 PASS CFI Del intronic 1 7 POLE child 4_110684410_ATA_POLE 1 1 1 T 6 T Repeat-mediated eb3e8c28-329d-11e6-b696-dd6225c9da85 5_49612623_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 49612623 CT C 600 PASS - Del - 1 7 MSH6 child 5_49612623_CTC_MSH6 1 1 1 T 6 T Repeat-mediated eb40ff1a-3290-11e6-b17d-bd257a852e0e 15_76221663_ATA . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 15 76221663 AT A 300 PASS FBXO22 Del intronic 1 8 CHK2 child 15_76221663_ATA_CHK2 1 1 1 T 7 T Repeat-mediated eb4ab8c8-3283-11e6-96d6-e945ee3c4f5d 3_12140590_GAG . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 3 12140590 GA G 660 PASS - Del - 1 5 POLB child 3_12140590_GAG_POLB 1 1 1 A 4 A Repeat-mediated eb4be598-326c-11e6-9d68-ac9acab49462 15_35338185_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 35338185 TA T 360 PASS - Del - 1 9 MSH6 child 15_35338185_TAT_MSH6 1 1 1 A 8 A Repeat-mediated eb4f07d2-326c-11e6-9fba-41ebd8b4fa2c 11_14806306_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 14806306 AT A 540 PASS PDE3B Del intronic 1 9 MSH6 child 11_14806306_ATA_MSH6 1 1 1 T 8 T Repeat-mediated eb502a32-3270-11e6-b5b8-e0c24a47a305 X_97252736_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 97252736 CT C 600 PASS - Del - 1 9 MSH6 child X_97252736_CTC_MSH6 1 1 1 T 8 T Repeat-mediated eb580588-3322-11e6-9802-cf66694da5d2 12_92588607_GAG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 12 92588607 GA G 360 PASS - Del - 1 9 EXO1 child 12_92588607_GAG_EXO1 1 1 1 A 8 A Repeat-mediated eb5b7ab8-3289-11e6-9c89-8d090e01a414 1_31926862_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 31926862 TA T 300 PASS - Del - 1 5 MSH6 child 1_31926862_TAT_MSH6 1 1 1 A 4 A Repeat-mediated eb624c26-3293-11e6-9230-fb250e01a414 3_197562835_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 197562835 G GT 480 PASS LRCH3 Ins intronic 1 4 MSH6 child 3_197562835_GGT_MSH6 1 1 - - - - Ins eb6a805c-326c-11e6-9d68-ac9acab49462 15_35357891_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 35357891 TA T 420 PASS - Del - 1 7 MSH6 child 15_35357891_TAT_MSH6 1 1 1 A 6 A Repeat-mediated eb7920e2-3273-11e6-89f6-200f6323ba5a 7_146949056_TAT . HAP1_POLB_35-2 HAP1_parental_75_WT_DNA 7 146949056 TA T 420 PASS CNTNAP2 Del intronic 1 9 POLB child 7_146949056_TAT_POLB 1 1 1 A 8 A Repeat-mediated eb7bac20-3284-11e6-821e-69f1bbe6aa09 16_47833551_GCTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 47833551 GCT G 360 PASS RP11-523L20.2 Del intronic 2 6 MSH6 child 16_47833551_GCTG_MSH6 2 2 2 CT 5 CT Repeat-mediated eb80416c-3276-11e6-8717-f13d8a20d9eb 6_117710369_CTC . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 6 117710369 CT C 780 PASS ROS1 Del intronic 1 9 CHK2 child 6_117710369_CTC_CHK2 1 1 1 T 8 T Repeat-mediated eb8fa412-3286-11e6-8404-8e1fbce6aa09 8_39275940_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 39275940 TC T 420 PASS - Del - 1 1 MSH6 child 8_39275940_TCT_MSH6 1 1 0 - 0 C None eb90d4d4-329c-11e6-aca6-b39fcc638e3d 2_203087217_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 203087217 AT A 300 PASS SUMO1 Del intronic 1 9 MSH6 child 2_203087217_ATA_MSH6 1 1 1 T 8 T Repeat-mediated eb9e7de8-329f-11e6-a5cf-e5abcc638e3d 9_127462299_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 127462299 C CT 540 PASS NR6A1 Ins intronic 1 8 MSH6 child 9_127462299_CCT_MSH6 1 1 - - - - Ins eba557b4-3257-11e6-acc5-308412ae24cf 5_111514109_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 111514109 TA T 660 PASS EPB41L4A Del intronic 1 9 MSH6 child 5_111514109_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ebabbb66-3254-11e6-a304-347a7872c165 1_86985545_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 86985545 TA T 600 PASS - Del - 1 9 MSH6 child 1_86985545_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ebafa488-3254-11e6-bb62-81f712ae24cf X_53923371_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA X 53923371 CA C 420 PASS - Del - 1 8 POLB child X_53923371_CAC_POLB 1 1 1 A 7 A Repeat-mediated ebb3064a-328c-11e6-8459-82090e01a414 12_75892808_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 75892808 C CT 360 PASS KRR1 Ins 3prime_UTR_variant 1 8 MSH6 child 12_75892808_CCT_MSH6 1 1 - - - - Ins ebb312ec-326f-11e6-b923-6726694da5d2 5_32130729_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 32130729 GA G 420 PASS GOLPH3 Del intronic 1 8 MSH6 child 5_32130729_GAG_MSH6 1 1 1 A 7 A Repeat-mediated ebb4d784-328e-11e6-85fc-1cce7098ee92 4_77576440_CCT . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 4 77576440 C CT 420 PASS SHROOM3 Ins intronic 1 2 NUDT1 child 4_77576440_CCT_NUDT1 1 1 - - - - Ins ebbd0edc-3274-11e6-983a-1d8bcf737e61 7_95716285_ATA . HAP1_POLB_35-4 HAP1_parental_75_WT_DNA 7 95716285 AT A 480 PASS DYNC1I1 Del intronic 1 7 POLB child 7_95716285_ATA_POLB 1 1 1 T 6 T Repeat-mediated ebc2be0c-3285-11e6-a8af-066ea2c71c31 15_85686770_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 85686770 TA T 720 PASS PDE8A Del downstream 1 6 MSH6 child 15_85686770_TAT_MSH6 1 1 1 A 5 A Repeat-mediated ebcdff8c-3290-11e6-850b-ec0b9c6d3b88 4_141307250_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 141307250 AT A 420 PASS SCOC Del downstream 1 6 POLB child 4_141307250_ATA_POLB 1 1 1 T 5 T Repeat-mediated ebd001aa-328c-11e6-bfa2-581f0e01a414 7_14519016_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 14519016 AT A 420 PASS DGKB Del intronic 1 8 MSH6 child 7_14519016_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ebd1bd30-329e-11e6-94ca-0aaecc638e3d X_79577258_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 79577258 CA C 540 PASS - Del - 1 9 MSH6 child X_79577258_CAC_MSH6 1 1 1 A 8 A Repeat-mediated ebd1c0fa-328a-11e6-8eee-76090e01a414 10_105679471_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 105679471 AG A 300 PASS OBFC1 Del upstream 1 1 MSH6 child 10_105679471_AGA_MSH6 1 1 0 - 0 G None ebd3f476-328d-11e6-ace9-29a5e7d0bdd7 16_24476371_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 16 24476371 AT A 360 PASS - Del - 1 7 FANCC child 16_24476371_ATA_FANCC 1 1 1 T 6 T Repeat-mediated ebda9d46-328b-11e6-ae83-60cc977b3f23 19_22157842_TGT . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 19 22157842 TG T 900 PASS ZNF208 Del intronic 1 1 NEIL1 child 19_22157842_TGT_NEIL1 1 1 0 - 0 G None ebdbaa4e-3284-11e6-821e-69f1bbe6aa09 16_48104906_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 48104906 TG T 540 PASS - Del - 1 4 MSH6 child 16_48104906_TGT_MSH6 1 1 1 G 3 G Repeat-mediated ebdbc8ec-3277-11e6-bc24-bc6e3cfdbd24 6_120856884_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 6 120856884 AT A 780 PASS - Del - 1 9 MSH6 parent 6_120856884_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ebdec00c-3271-11e6-b89d-b2d6b0dab373 4_163435695_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 163435695 AT A 480 PASS - Del - 1 7 MSH6 child 4_163435695_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ebe4ba22-3292-11e6-be55-fcd76ca5563b 14_67074254_CCCTC . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 14 67074254 CCCT C 600 PASS GPHN Del intronic 3 3 POLB child 14_67074254_CCCTC_POLB 3 3 3 CCT 2 CCT Repeat-mediated ebe57936-326e-11e6-b306-b5204b47a305 2_204679187_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 204679187 GA G 300 PASS - Del - 1 9 MSH6 child 2_204679187_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ebe7e084-3270-11e6-aff7-9ad52aaffa45 1_173027603_CAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 1 173027603 CA C 480 PASS RP1-15D23.2 Del intronic 1 8 NEIL1 child 1_173027603_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated ebe8efc2-328b-11e6-8fd1-f2ac12ae24cf X_16353652_CAC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA X 16353652 CA C 480 PASS - Del - 1 9 CHK2 child X_16353652_CAC_CHK2 1 1 1 A 8 A Repeat-mediated ec027c98-3273-11e6-a461-6958e7d0bdd7 15_50895239_CAC . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 15 50895239 CA C 600 PASS TRPM7 Del intronic 1 6 EXO1 child 15_50895239_CAC_EXO1 1 1 1 A 5 A Repeat-mediated ec0628d2-3275-11e6-8295-ecba9b6d3b88 5_65544527_CTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 5 65544527 CT C 1080 PASS - Del - 1 8 EXO1 child 5_65544527_CTC_EXO1 1 1 1 T 7 T Repeat-mediated ec0a2dd2-3280-11e6-86bf-c88169062303 18_49762942_ATATATATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 18 49762942 ATATATAT A 300 PASS - Del - 7 1 FANCC child 18_49762942_ATATATATA_FANCC 7 7 3 TAT 0 - Microhomology-mediated ec152128-3277-11e6-9484-e5b5cc638e3d 6_13327673_CTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 6 13327673 CT C 480 PASS TBC1D7 Del upstream 1 8 EXO1 child 6_13327673_CTC_EXO1 1 1 1 T 7 T Repeat-mediated ec15309a-3296-11e6-9718-edf997ba1142 15_56498407_CAC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 15 56498407 CA C 900 PASS RFX7 Del intronic 1 9 CHK2 child 15_56498407_CAC_CHK2 1 1 1 A 8 A Repeat-mediated ec24bbce-326d-11e6-a20c-f31d4b47a305 2_181900418_ATA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 2 181900418 AT A 600 PASS UBE2E3 Del intronic 1 8 POLM parent 2_181900418_ATA_POLM 1 1 1 T 7 T Repeat-mediated ec314df6-3274-11e6-9a4f-14b6dcd214c4 4_152125295_GGA . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 4 152125295 G GA 420 PASS SH3D19 Ins intronic 1 7 POLM child 4_152125295_GGA_POLM 1 1 - - - - Ins ec41ae12-3288-11e6-a8ac-a28ea2c71c31 3_126410254_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 126410254 CA C 720 PASS - Del - 1 8 MSH6 child 3_126410254_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ec424f1c-3291-11e6-881f-a0bf4430f757 6_76783783_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 6 76783783 CT C 420 PASS IMPG1 Del upstream 1 7 POLE child 6_76783783_CTC_POLE 1 1 1 T 6 T Repeat-mediated ec457e64-3276-11e6-a71d-236235cec73b X_68956149_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 68956149 CA C 720 PASS EDA Del intronic 1 9 MSH6 child X_68956149_CAC_MSH6 1 1 1 A 8 A Repeat-mediated ec515770-3280-11e6-9f44-a22236fc2f7d 18_13337460_CTC . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 18 13337460 CT C 600 PASS LDLRAD4 Del intronic 1 5 NUDT1 child 18_13337460_CTC_NUDT1 1 1 1 T 4 T Repeat-mediated ec5ec36a-3253-11e6-a4a7-35f212ae24cf 14_44695738_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 44695738 AT A 360 PASS RP11-305B6.3 Del intronic 1 9 MSH6 child 14_44695738_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ec69e5ce-3320-11e6-aa01-c73272d7bc54 12_24318657_TGT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 12 24318657 TG T 300 PASS - Del - 1 2 EXO1 child 12_24318657_TGT_EXO1 1 1 1 G 1 G Repeat-mediated ec741e2e-327e-11e6-bf31-92cf1f4bbf9c 2_137029673_AAT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 2 137029673 A AT 360 PASS - Ins - 1 7 POLM child 2_137029673_AAT_POLM 1 1 - - - - Ins ec75ef68-3271-11e6-a812-e11198ba1142 9_120746341_CTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 120746341 CT C 840 PASS - Del - 1 8 EXO1 parent 9_120746341_CTC_EXO1 1 1 1 T 7 T Repeat-mediated ec82c192-3286-11e6-8404-8e1fbce6aa09 8_39762156_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 39762156 CT C 540 PASS IDO1 Del intronic 1 8 MSH6 child 8_39762156_CTC_MSH6 1 1 1 T 7 T Repeat-mediated ec84cce4-329a-11e6-bda6-065325c9da85 13_89465967_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 89465967 TA T 600 PASS - Del - 1 7 MSH6 child 13_89465967_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ec8d2722-3286-11e6-a32f-5b79a178171f 11_82736199_CATATCTGC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 11 82736199 CATATCTG C 480 PASS RAB30 Del intronic 7 1 FANCC child 11_82736199_CATATCTGC_FANCC 7 7 2 AT 0 - Microhomology-mediated ec8f0706-3284-11e6-be43-0a6ea2c71c31 10_47374913_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 47374913 GT G 362 PASS - Del - 1 8 MSH6 child 10_47374913_GTG_MSH6 1 1 1 T 7 T Repeat-mediated ecafc12a-3276-11e6-a71d-236235cec73b X_69129121_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 69129121 GT G 480 PASS EDA Del intronic 1 7 MSH6 child X_69129121_GTG_MSH6 1 1 1 T 6 T Repeat-mediated ecbaf020-326e-11e6-b306-b5204b47a305 2_205058527_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 205058527 GA G 600 PASS - Del - 1 8 MSH6 child 2_205058527_GAG_MSH6 1 1 1 A 7 A Repeat-mediated ecbdf0ac-328e-11e6-8f31-bfe16f39e758 9_87830447_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 87830447 TA T 360 PASS - Del - 1 4 MSH6 child 9_87830447_TAT_MSH6 1 1 1 A 3 A Repeat-mediated ecca8808-328e-11e6-9230-fb250e01a414 3_63802284_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 63802284 CA C 300 PASS C3orf49 Del upstream 1 7 MSH6 child 3_63802284_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ecccea46-3296-11e6-a8ac-ea4f3dc9300a 6_57884074_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 6 57884074 TA T 420 PASS - Del - 1 7 POLB child 6_57884074_TAT_POLB 1 1 1 A 6 A Repeat-mediated eccd2b72-328d-11e6-9217-1ba5e7d0bdd7 10_26346310_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 10 26346310 GA G 300 PASS MYO3A Del intronic 1 8 FANCC child 10_26346310_GAG_FANCC 1 1 1 A 7 A Repeat-mediated eccd2da8-3273-11e6-a5d0-4fd14a47a305 2_134891496_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 134891496 TA T 600 PASS MGAT5 Del intronic 1 8 MSH6 child 2_134891496_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ecd95d3a-3287-11e6-8404-8e1fbce6aa09 8_69362371_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 69362371 CT C 300 PASS C8orf34 Del intronic 1 7 MSH6 child 8_69362371_CTC_MSH6 1 1 1 T 6 T Repeat-mediated ecddce5e-3284-11e6-a0a8-096ea2c71c31 11_49573284_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 49573284 TA T 540 PASS - Del - 1 8 MSH6 child 11_49573284_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ece207d8-3290-11e6-a043-93e7977b3f23 3_102750249_ATA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 3 102750249 AT A 360 PASS - Del - 1 9 NEIL1 child 3_102750249_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated ece278a4-3276-11e6-83cd-a472a178171f 4_135413220_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 135413220 CA C 300 PASS - Del - 1 8 MSH6 child 4_135413220_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ecf46310-328b-11e6-b4fe-93c36f39e758 12_22437865_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 22437865 TA T 480 PASS ST8SIA1 Del intronic 1 8 MSH6 child 12_22437865_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ecf5b310-3258-11e6-8340-da9012ae24cf 6_28670621_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 28670621 AT A 360 PASS - Del - 1 8 MSH6 child 6_28670621_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ecf96316-328f-11e6-b97d-a8b305ad5bc4 20_45852684_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 45852684 CA C 960 PASS ZMYND8 Del intronic 1 8 MSH6 child 20_45852684_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ecfb842c-3274-11e6-9162-5cdb6de4ab00 11_122993093_AACAGA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 11 122993093 AACAG A 600 PASS CLMP Del intronic 4 2 CHK2 child 11_122993093_AACAGA_CHK2 4 4 4 ACAG 1 ACAG Repeat-mediated ed0381c6-3324-11e6-ba0a-ab9864f80bad 5_84530253_AGGCACATTGA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 5 84530253 AGGCACATTG A 300 PASS - Del - 9 1 EXO1 child 5_84530253_AGGCACATTGA_EXO1 9 9 2 GG 0 - Microhomology-mediated ed03e9b6-329f-11e6-aea7-956725c9da85 3_95544998_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 95544998 AT A 480 PASS - Del - 1 8 MSH6 child 3_95544998_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ed1dbd0c-3289-11e6-94b1-74090e01a414 17_34846441_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 34846441 AT A 300 PASS ZNHIT3 Del intronic 1 9 MSH6 child 17_34846441_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ed225b3e-328c-11e6-b8e6-91c36f39e758 11_92602826_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 92602826 GA G 900 PASS FAT3 Del intronic 1 6 MSH6 child 11_92602826_GAG_MSH6 1 1 1 A 5 A Repeat-mediated ed2a8d3e-3270-11e6-8418-1c5942c4520d 3_89254798_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 89254798 GA G 480 PASS EPHA3 Del intronic 1 5 MSH6 child 3_89254798_GAG_MSH6 1 1 1 A 4 A Repeat-mediated ed3733c8-3292-11e6-92cf-bf2a0e01a414 6_84515313_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 84515313 C CT 660 PASS - Ins - 1 7 MSH6 child 6_84515313_CCT_MSH6 1 1 - - - - Ins ed3f8090-3270-11e6-b5b8-e0c24a47a305 X_98054430_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 98054430 TA T 360 PASS - Del - 1 7 MSH6 child X_98054430_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ed3faada-3297-11e6-9c5d-eaf997ba1142 12_123942556_ATA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 12 123942556 AT A 720 PASS SNRNP35 Del 5prime_UTR_variant 1 9 CHK2 child 12_123942556_ATA_CHK2 1 1 1 T 8 T Repeat-mediated ed46147c-326c-11e6-9d68-ac9acab49462 15_35935570_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 35935570 TA T 300 PASS DPH6-AS1 Del intronic 1 9 MSH6 child 15_35935570_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ed4b75b2-329d-11e6-b549-1e5325c9da85 10_113475400_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 113475400 T TA 480 PASS - Ins - 1 8 MSH6 child 10_113475400_TTA_MSH6 1 1 - - - - Ins ed4deaba-3322-11e6-af46-df1198ba1142 7_24066883_TAT . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 7 24066883 TA T 600 PASS - Del - 1 9 POLE child 7_24066883_TAT_POLE 1 1 1 A 8 A Repeat-mediated ed50e3e0-3274-11e6-8f33-a6d9cde16804 11_88696281_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 88696281 C CA 480 PASS GRM5 Ins intronic 1 7 MSH6 child 11_88696281_CCA_MSH6 1 1 - - - - Ins ed5a49ec-3299-11e6-baf7-d4588cd8cd69 22_42118039_TTA . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 22 42118039 T TA 300 PASS MEI1 Ins intronic 1 2 CHK2 child 22_42118039_TTA_CHK2 1 1 - - - - Ins ed5f1fdc-3288-11e6-b32c-fd87a2c71c31 5_117523757_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 117523757 G GT 360 PASS CTD-3179P9.1 Ins intronic 1 8 MSH6 child 5_117523757_GGT_MSH6 1 1 - - - - Ins ed67b43a-3288-11e6-a8ac-a28ea2c71c31 3_127134342_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 127134342 GA G 480 PASS - Del - 1 7 MSH6 child 3_127134342_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ed6e533c-3272-11e6-bfb2-2749c225ee11 12_41872840_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 41872840 GA G 540 PASS PDZRN4 Del intronic 1 7 MSH6 child 12_41872840_GAG_MSH6 1 1 1 A 6 A Repeat-mediated ed8426f8-3272-11e6-83ef-69fb06e9a829 18_38781955_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 38781955 AT A 420 PASS - Del - 1 7 MSH6 child 18_38781955_ATA_MSH6 1 1 1 T 6 T Repeat-mediated ed93ae9a-327f-11e6-b263-76d64dc77248 8_55511686_ATA . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 55511686 AT A 300 PASS - Del - 1 9 NUDT1 child 8_55511686_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated eda365e6-328f-11e6-8f31-bfe16f39e758 9_5439304_CCT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 5439304 C CT 300 PASS PLGRKT Ins upstream 1 7 MSH6 child 9_5439304_CCT_MSH6 1 1 - - - - Ins eda37982-3320-11e6-94fd-ff28038949d4 15_68389240_ATA . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 15 68389240 AT A 420 PASS PIAS1 Del intronic 1 7 CHK2 parent 15_68389240_ATA_CHK2 1 1 1 T 6 T Repeat-mediated eda9d49c-329b-11e6-aca6-b39fcc638e3d 2_141018489_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 141018489 AT A 780 PASS LRP1B Del intronic 1 9 MSH6 child 2_141018489_ATA_MSH6 1 1 1 T 8 T Repeat-mediated edb8eaf0-328b-11e6-bd84-429305ad5bc4 1_49834157_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 49834157 AT A 474 PASS AGBL4 Del intronic 1 8 MSH6 child 1_49834157_ATA_MSH6 1 1 1 T 7 T Repeat-mediated edb9e508-329b-11e6-aca6-b39fcc638e3d 2_141028929_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 141028929 CA C 540 PASS LRP1B Del intronic 1 7 MSH6 child 2_141028929_CAC_MSH6 1 1 1 A 6 A Repeat-mediated edc652da-329a-11e6-b74d-b59fcc638e3d 18_70192172_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 70192172 TA T 600 PASS - Del - 1 9 MSH6 child 18_70192172_TAT_MSH6 1 1 1 A 8 A Repeat-mediated edcc30ba-326d-11e6-9f48-94df41c4520d 12_103934689_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 103934689 CT C 300 PASS - Del - 1 9 MSH6 child 12_103934689_CTC_MSH6 1 1 1 T 8 T Repeat-mediated eddba712-3276-11e6-998e-ba48fa52e078 8_91394382_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 91394382 CA C 780 PASS LINC00534 Del intronic 1 5 MSH6 child 8_91394382_CAC_MSH6 1 1 1 A 4 A Repeat-mediated ede5483a-3320-11e6-9310-d9d7c042253c 16_13014171_GTAG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 16 13014171 GTA G 300 PASS SHISA9 Del intronic 2 7 POLE child 16_13014171_GTAG_POLE 2 2 2 TA 6 TA Repeat-mediated ede728de-3254-11e6-b895-bae612ae24cf 2_242422978_TCT . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 2 242422978 TC T 720 PASS FARP2 Del intronic 1 6 POLB child 2_242422978_TCT_POLB 1 1 1 C 5 C Repeat-mediated eded61e2-3289-11e6-bbaf-7c090e01a414 19_23290717_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 23290717 AT A 300 PASS - Del - 1 7 MSH6 child 19_23290717_ATA_MSH6 1 1 1 T 6 T Repeat-mediated edf14538-3274-11e6-8eca-83e079852e0e 11_32146609_GAG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 11 32146609 GA G 420 PASS - Del - 1 8 POLM child 11_32146609_GAG_POLM 1 1 1 A 7 A Repeat-mediated edf1905c-328c-11e6-8770-3e160e01a414 9_99764195_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 99764195 GA G 288 PASS HIATL2 Del intronic 1 9 MSH6 child 9_99764195_GAG_MSH6 1 1 1 A 8 A Repeat-mediated edf6078e-3284-11e6-a1ac-fd6da2c71c31 13_67651986_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 67651986 TA T 660 PASS PCDH9 Del intronic 1 9 MSH6 child 13_67651986_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ee06e746-3286-11e6-b84c-a2a0fc1f1540 1_182776430_TAT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 182776430 TA T 300 PASS NPL Del intronic 1 9 FANCC child 1_182776430_TAT_FANCC 1 1 1 A 8 A Repeat-mediated ee15d71c-3347-11e6-b5ef-938f38e8a824 13_95850152_TTC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 13 95850152 T TC 420 PASS ABCC4 Ins intronic 1 0 FANCC child 13_95850152_TTC_FANCC 1 1 - - - - Ins ee1e725e-328f-11e6-9d24-ade56f39e758 7_88898327_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 88898327 AT A 449 PASS ZNF804B Del intronic 1 6 MSH6 child 7_88898327_ATA_MSH6 1 1 1 T 5 T Repeat-mediated ee21eb40-329a-11e6-bda6-065325c9da85 13_89914317_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 89914317 AT A 300 PASS - Del - 1 9 MSH6 child 13_89914317_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ee318690-3349-11e6-a997-309d38e8a824 4_122985979_CGACAGATAAGC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 122985979 CGACAGATAAG C 420 PASS - Del - 10 1 FANCC child 4_122985979_CGACAGATAAGC_FANCC 10 >=10 2 GA 0 - Microhomology-mediated ee349838-3292-11e6-9230-fb250e01a414 3_128262632_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 128262632 A AT 300 PASS - Ins - 1 9 MSH6 child 3_128262632_AAT_MSH6 1 1 - - - - Ins ee43d662-3270-11e6-b5b8-e0c24a47a305 X_98740125_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 98740125 CT C 480 PASS - Del - 1 9 MSH6 child X_98740125_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ee482f16-3287-11e6-9bc8-5079a178171f 15_97673914_CAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 15 97673914 CA C 300 PASS - Del - 1 5 FANCC child 15_97673914_CAC_FANCC 1 1 1 A 4 A Repeat-mediated ee4b2f80-328d-11e6-b8e6-91c36f39e758 11_16169987_TTA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 16169987 T TA 540 PASS SOX6 Ins intronic 1 3 MSH6 child 11_16169987_TTA_MSH6 1 1 - - - - Ins ee52b744-3299-11e6-aca6-b39fcc638e3d 2_10369532_CTTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 10369532 CTT C 780 PASS - Del - 2 5 MSH6 child 2_10369532_CTTC_MSH6 2 2 2 TT 3 T Repeat-mediated ee6575e4-3273-11e6-a5d0-4fd14a47a305 2_135414139_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 135414139 TC T 740 PASS TMEM163 Del intronic 1 6 MSH6 child 2_135414139_TCT_MSH6 1 1 1 C 5 C Repeat-mediated ee6c7170-3280-11e6-ab82-b5262eaed38e 14_75355897_AATTGA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 14 75355897 AATTG A 540 PASS DLST Del intronic 4 2 POLB child 14_75355897_AATTGA_POLB 4 4 4 ATTG 1 ATTG Repeat-mediated ee728f66-3275-11e6-a3f9-4821ead19ece 3_22828725_CAC . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 3 22828725 CA C 480 PASS - Del - 1 9 NEIL1 child 3_22828725_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated ee7bcd9c-3270-11e6-b89d-b2d6b0dab373 4_95979139_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 95979139 TA T 720 PASS BMPR1B Del intronic 1 7 MSH6 child 4_95979139_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ee7e4256-328a-11e6-8353-a446fd44d094 1_201229763_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 1 201229763 AT A 300 PASS - Del - 1 6 FANCC child 1_201229763_ATA_FANCC 1 1 1 T 5 T Repeat-mediated ee83c1ae-3258-11e6-8cd9-139b7872c165 3_112212361_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 112212361 GT G 600 PASS BTLA Del intronic 1 9 MSH6 child 3_112212361_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ee8b2076-3293-11e6-98e0-70dad8b4fa2c 2_194907658_TAGT . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 2 194907658 TAG T 480 PASS - Del - 2 2 NUDT1 child 2_194907658_TAGT_NUDT1 2 2 2 AG 1 AG Repeat-mediated ee8d6304-3347-11e6-b1a0-0d1e4ec77248 X_29802054_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA X 29802054 AT A 480 PASS IL1RAPL1 Del intronic 1 9 FANCC child X_29802054_ATA_FANCC 1 1 1 T 8 T Repeat-mediated ee8e2548-329b-11e6-b549-1e5325c9da85 10_124765928_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 124765928 AC A 600 PASS ACADSB Del upstream 1 8 MSH6 child 10_124765928_ACA_MSH6 1 1 1 C 7 C Repeat-mediated ee912c66-328c-11e6-bd84-429305ad5bc4 1_189356487_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 189356487 CT C 300 PASS - Del - 1 9 MSH6 child 1_189356487_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ee936b06-326f-11e6-9fba-41ebd8b4fa2c 11_125134690_GCG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 125134690 GC G 360 PASS PKNOX2 Del intronic 1 5 MSH6 child 11_125134690_GCG_MSH6 1 1 1 C 4 C Repeat-mediated eeb8dfa0-329a-11e6-bda6-065325c9da85 13_90033113_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 90033113 AT A 780 PASS - Del - 1 7 MSH6 child 13_90033113_ATA_MSH6 1 1 1 T 6 T Repeat-mediated eeb9ad3c-3271-11e6-a812-e11198ba1142 9_121762572_ATA . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 9 121762572 AT A 360 PASS - Del - 1 7 EXO1 parent 9_121762572_ATA_EXO1 1 1 1 T 6 T Repeat-mediated eec058d0-3271-11e6-aca7-e2b6dcd214c4 5_66679758_TAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 5 66679758 TA T 600 PASS RP11-434D9.1 Del intronic 1 4 POLM child 5_66679758_TAT_POLM 1 1 1 A 3 A Repeat-mediated eec3c588-3276-11e6-8c34-46e27872c165 5_110299665_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 110299665 GA G 420 PASS - Del - 1 8 MSH6 child 5_110299665_GAG_MSH6 1 1 1 A 7 A Repeat-mediated eec7f9da-3273-11e6-9210-65fa620e6611 5_151657576_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 151657576 GA G 600 PASS - Del - 1 8 EXO1 parent 5_151657576_GAG_EXO1 1 1 1 A 7 A Repeat-mediated eecdd5a6-3284-11e6-8ebc-68f1bbe6aa09 18_61833259_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 61833259 GT G 540 PASS RP11-146N18.1 Del intronic 1 8 MSH6 child 18_61833259_GTG_MSH6 1 1 1 T 7 T Repeat-mediated eecee822-3295-11e6-957b-aef8d8b4fa2c 8_49769693_CTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 8 49769693 CTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTT C 300 PASS - Del - 36 1 NUDT1 child 8_49769693_CTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTC_NUDT1 36 >=10 0 - 0 - None eed1c6d0-3274-11e6-bf90-64cd7872c165 6_84016508_TCCCTTGATAATACAGTAT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 6 84016508 TCCCTTGATAATACAGTA T 540 PASS ME1 Del intronic 17 1 POLM child 6_84016508_TCCCTTGATAATACAGTAT_POLM 17 >=10 1 C 0 - Microhomology-mediated eed83d2c-3322-11e6-bfbd-b63cfc77b11e 14_107143765_TTA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 14 107143765 T TA 600 PASS - Ins - 1 8 POLE child 14_107143765_TTA_POLE 1 1 - - - - Ins eee374c6-329b-11e6-8d0f-075325c9da85 14_42566266_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 42566266 C CA 300 PASS - Ins - 1 9 MSH6 child 14_42566266_CCA_MSH6 1 1 - - - - Ins eee4787a-327e-11e6-9cfc-ec8590e2c2e6 1_195246458_CTC . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 1 195246458 CT C 480 PASS - Del - 1 7 NUDT1 child 1_195246458_CTC_NUDT1 1 1 1 T 6 T Repeat-mediated eee68a86-3272-11e6-aa3b-ca60a178171f 13_52552340_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 52552340 TG T 480 PASS ATP7B Del intronic 1 5 MSH6 child 13_52552340_TGT_MSH6 1 1 1 G 4 G Repeat-mediated eef5231a-328c-11e6-bd84-429305ad5bc4 1_189641716_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 189641716 AT A 420 PASS - Del - 1 9 MSH6 child 1_189641716_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ef072076-3280-11e6-9ec5-888f1ac527ab 13_72655077_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 13 72655077 AT A 480 PASS - Del - 1 7 FANCC child 13_72655077_ATA_FANCC 1 1 1 T 6 T Repeat-mediated ef091cee-328c-11e6-b805-77090e01a414 2_241023212_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 241023212 GT G 300 PASS - Del - 1 7 MSH6 child 2_241023212_GTG_MSH6 1 1 1 T 6 T Repeat-mediated ef12d080-3292-11e6-94e1-63e1191589db 3_180469074_AAT . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 180469074 A AT 360 PASS - Ins - 1 6 FANCC child 3_180469074_AAT_FANCC 1 1 - - - - Ins ef17fbd2-326f-11e6-93e2-b755671699ea 12_64638236_TCT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 12 64638236 TC T 360 PASS - Del - 1 1 EXO1 parent 12_64638236_TCT_EXO1 1 1 0 - 0 C None ef181c4c-329d-11e6-bc2c-2a5e25c9da85 4_65630345_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 65630345 GT G 300 PASS - Del - 1 9 MSH6 child 4_65630345_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ef1c41ee-329f-11e6-91d0-016425c9da85 7_145453546_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 145453546 GT G 480 PASS - Del - 1 9 MSH6 child 7_145453546_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ef255c78-3279-11e6-ab1d-16d9ecf1e924 20_5083953_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 20 5083953 CA C 720 PASS TMEM230 Del intronic 1 7 MSH6 child 20_5083953_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ef2644f4-32a0-11e6-bc66-17b4cc638e3d 8_143476446_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 143476446 AG A 300 PASS TSNARE1 Del intronic 1 6 MSH6 child 8_143476446_AGA_MSH6 1 1 1 G 5 G Repeat-mediated ef318596-326c-11e6-b306-b5204b47a305 2_30687980_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 30687980 TA T 360 PASS LCLAT1 Del intronic 1 8 MSH6 child 2_30687980_TAT_MSH6 1 1 1 A 7 A Repeat-mediated ef321d68-3289-11e6-94b1-74090e01a414 17_35221085_CGC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 35221085 CG C 420 PASS - Del - 1 6 MSH6 child 17_35221085_CGC_MSH6 1 1 1 G 5 G Repeat-mediated ef3f3b1a-3275-11e6-a8d8-3e6075253f64 3_48910189_AGGAGGCTGAGGCAGAAGAACTGTTTGAGCCCAGGATGCTGAGGCTGCAGAGAGCCATGATTTTACCACTGCACTTCAGCCTGGGCAATAGAGTAACACCTTGTCTCAAAAACAAAAACAAATTGACTCAAATGAGGTCACAGGCTTGAATGTAAAACATAAAATGATAAATAAAACCTATAGAAGGCCCGGGTACGGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGCAAATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGTGTGTGCCTATAATCCCAGCTACTGGA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 3 48910189 AGGAGGCTGAGGCAGAAGAACTGTTTGAGCCCAGGATGCTGAGGCTGCAGAGAGCCATGATTTTACCACTGCACTTCAGCCTGGGCAATAGAGTAACACCTTGTCTCAAAAACAAAAACAAATTGACTCAAATGAGGTCACAGGCTTGAATGTAAAACATAAAATGATAAATAAAACCTATAGAAGGCCCGGGTACGGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGCAAATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGTGTGTGCCTATAATCCCAGCTACTGG A 359 PASS SLC25A20 Del intronic 361 1 FANCC child 3_48910189_AGGAGGCTGAGGCAGAAGAACTGTTTGAGCCCAGGATGCTGAGGCTGCAGAGAGCCATGATTTTACCACTGCACTTCAGCCTGGGCAATAGAGTAACACCTTGTCTCAAAAACAAAAACAAATTGACTCAAATGAGGTCACAGGCTTGAATGTAAAACATAAAATGATAAATAAAACCTATAGAAGGCCCGGGTACGGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGCAAATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGTGTGTGCCTATAATCCCAGCTACTGGA_FANCC 361 >=10 14 GGAGGCTGAGGCAG 0 - Microhomology-mediated ef5644b2-3253-11e6-a4a7-35f212ae24cf 14_45823553_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 45823553 CT C 600 PASS - Del - 1 9 MSH6 child 14_45823553_CTC_MSH6 1 1 1 T 8 T Repeat-mediated ef5e4aa6-326f-11e6-b923-6726694da5d2 5_32754725_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 32754725 AT A 660 PASS NPR3 Del intronic 1 8 MSH6 child 5_32754725_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ef6364cc-3289-11e6-8eee-76090e01a414 10_44004123_CAAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 44004123 CAA C 300 PASS - Del - 2 5 MSH6 child 10_44004123_CAAC_MSH6 2 2 2 AA 3 A Repeat-mediated ef6a0fb4-3290-11e6-919e-92c36f39e758 2_114632388_GGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 114632388 G GA 420 PASS - Ins - 1 9 MSH6 child 2_114632388_GGA_MSH6 1 1 - - - - Ins ef6fe9f4-329d-11e6-b696-dd6225c9da85 5_50992106_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 50992106 CT C 540 PASS - Del - 1 4 MSH6 child 5_50992106_CTC_MSH6 1 1 1 T 3 T Repeat-mediated ef7fc188-3286-11e6-b32c-fd87a2c71c31 5_74784161_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 74784161 AT A 420 PASS COL4A3BP Del intronic 1 8 MSH6 child 5_74784161_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ef84397a-329a-11e6-b74d-b59fcc638e3d 18_70685951_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 70685951 CA C 300 PASS - Del - 1 8 MSH6 child 18_70685951_CAC_MSH6 1 1 1 A 7 A Repeat-mediated ef928374-3257-11e6-91d3-a68412ae24cf 7_107101729_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 107101729 TA T 480 PASS COG5 Del intronic 1 7 MSH6 child 7_107101729_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ef93bd76-3279-11e6-83cd-a472a178171f 4_152363487_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 152363487 T TA 540 PASS FAM160A1 Ins intronic 1 8 MSH6 child 4_152363487_TTA_MSH6 1 1 - - - - Ins efa29302-3254-11e6-b4d0-327a7872c165 11_94914959_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 94914959 CA C 480 PASS SESN3 Del intronic 1 8 MSH6 child 11_94914959_CAC_MSH6 1 1 1 A 7 A Repeat-mediated efa78d1a-3297-11e6-bfe3-c11ec7271a47 2_146608725_GAG . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 2 146608725 GA G 540 PASS - Del - 1 8 CHK2 child 2_146608725_GAG_CHK2 1 1 1 A 7 A Repeat-mediated efa7b7ca-3276-11e6-8c34-46e27872c165 5_110534291_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 110534291 CT C 480 PASS - Del - 1 9 MSH6 child 5_110534291_CTC_MSH6 1 1 1 T 8 T Repeat-mediated efad4520-328d-11e6-919e-92c36f39e758 2_166771640_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 166771640 TA T 420 PASS TTC21B Del intronic 1 9 MSH6 child 2_166771640_TAT_MSH6 1 1 1 A 8 A Repeat-mediated efb1a6d2-3284-11e6-b093-c9c7b0dab373 2_43056614_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 43056614 CA C 780 PASS - Del - 1 8 MSH6 child 2_43056614_CAC_MSH6 1 1 1 A 7 A Repeat-mediated efb68a18-327e-11e6-8cd8-82e7b41afd22 7_45716022_CTC . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 7 45716022 CT C 540 PASS ADCY1 Del intronic 1 9 POLM child 7_45716022_CTC_POLM 1 1 1 T 8 T Repeat-mediated efbde9a2-329c-11e6-bc2c-2a5e25c9da85 4_2855334_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 2855334 GT G 1080 PASS ADD1 Del intronic 1 9 MSH6 child 4_2855334_GTG_MSH6 1 1 1 T 8 T Repeat-mediated efbf46f0-328b-11e6-bd84-429305ad5bc4 1_51328423_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 51328423 GA G 660 PASS FAF1 Del intronic 1 7 MSH6 child 1_51328423_GAG_MSH6 1 1 1 A 6 A Repeat-mediated efc02278-329a-11e6-8069-175325c9da85 12_63805328_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 63805328 AT A 540 PASS - Del - 1 9 MSH6 child 12_63805328_ATA_MSH6 1 1 1 T 8 T Repeat-mediated efc0ea3e-3289-11e6-a7cf-80090e01a414 15_51960625_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 51960625 CT C 420 PASS - Del - 1 7 MSH6 child 15_51960625_CTC_MSH6 1 1 1 T 6 T Repeat-mediated efc73cf8-3276-11e6-a71d-236235cec73b X_70042868_TGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 70042868 TG T 660 PASS TEX11 Del intronic 1 6 MSH6 child X_70042868_TGT_MSH6 1 1 1 G 5 G Repeat-mediated efcad838-3274-11e6-a862-bc9becf1e924 1_170647431_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 170647431 AT A 720 PASS PRRX1 Del intronic 1 7 MSH6 child 1_170647431_ATA_MSH6 1 1 1 T 6 T Repeat-mediated efd8e762-3273-11e6-a279-106e671699ea 3_67196519_GATG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 3 67196519 GAT G 780 PASS - Del - 2 6 EXO1 parent 3_67196519_GATG_EXO1 2 2 2 AT 5 AT Repeat-mediated efde7656-328b-11e6-bf15-aeb06f39e758 6_115526414_CCT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 115526414 C CT 720 PASS - Ins - 1 0 EXO1 child 6_115526414_CCT_EXO1 1 1 - - - - Ins efdf0fe4-3277-11e6-998e-ba48fa52e078 8_17996260_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 17996260 T TA 780 PASS - Ins - 1 7 MSH6 child 8_17996260_TTA_MSH6 1 1 - - - - Ins efe6dba2-329a-11e6-b74d-b59fcc638e3d 18_70732012_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 70732012 GT G 300 PASS - Del - 1 8 MSH6 child 18_70732012_GTG_MSH6 1 1 1 T 7 T Repeat-mediated eff16ebe-328b-11e6-bd84-429305ad5bc4 1_51444376_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 51444376 TA T 300 PASS CDKN2C Del downstream 1 9 MSH6 child 1_51444376_TAT_MSH6 1 1 1 A 8 A Repeat-mediated eff5b90a-3278-11e6-9fa1-e11442c4520d 6_47972004_CAC . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 6 47972004 CA C 540 PASS PTCHD4 Del intronic 1 6 POLM child 6_47972004_CAC_POLM 1 1 1 A 5 A Repeat-mediated eff6bc72-328e-11e6-94e1-63e1191589db 3_119021223_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 119021223 AT A 300 PASS ARHGAP31 Del intronic 1 9 FANCC child 3_119021223_ATA_FANCC 1 1 1 T 8 T Repeat-mediated effa15c2-3322-11e6-8d31-31bce7d0bdd7 1_184137656_TCT . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 1 184137656 TC T 360 PASS - Del - 1 2 EXO1 child 1_184137656_TCT_EXO1 1 1 1 C 1 C Repeat-mediated effa17aa-3270-11e6-b9a6-d04066a58581 15_86564446_GTG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 15 86564446 GT G 420 PASS - Del - 1 9 EXO1 parent 15_86564446_GTG_EXO1 1 1 1 T 8 T Repeat-mediated effd33e4-327b-11e6-8026-e974e7d0bdd7 2_40940254_GGC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 2 40940254 G GC 780 PASS - Ins - 1 1 FANCC parent 2_40940254_GGC_FANCC 1 1 - - - - Ins f00748ce-3272-11e6-b084-b6b99d7ad846 16_82129460_TAT . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 16 82129460 TA T 480 PASS HSD17B2 Del intronic 1 8 NEIL1 child 16_82129460_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated f007840a-3287-11e6-a941-5a85a178171f 9_16960174_GAGAG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 9 16960174 GAGA G 540 PASS - Del - 3 1 FANCC child 9_16960174_GAGAG_FANCC 3 3 2 AG 0 - Microhomology-mediated f00c8e96-3287-11e6-8b67-086ea2c71c31 1_49896944_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 49896944 T TA 420 PASS AGBL4 Ins intronic 1 6 MSH6 child 1_49896944_TTA_MSH6 1 1 - - - - Ins f0253474-3286-11e6-b0bc-c7a46f39e758 5_68389712_CAC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 5 68389712 CA C 480 PASS SLC30A5 Del 5prime_UTR_variant 1 2 EXO1 child 5_68389712_CAC_EXO1 1 1 1 A 1 A Repeat-mediated f02c87de-3320-11e6-be72-aff7191589db 14_97131879_TAT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 14 97131879 TA T 540 PASS - Del - 1 7 CHK2 parent 14_97131879_TAT_CHK2 1 1 1 A 6 A Repeat-mediated f03c3942-3256-11e6-a304-347a7872c165 1_235719128_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 235719128 CT C 420 PASS GNG4 Del intronic 1 7 MSH6 child 1_235719128_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f0429b3c-3253-11e6-a03d-40f212ae24cf 18_28314106_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 28314106 CA C 840 PASS - Del - 1 7 MSH6 child 18_28314106_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f0438baa-3299-11e6-ae71-0c5325c9da85 1_7676804_GCG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 7676804 GC G 540 PASS CAMTA1 Del intronic 1 7 MSH6 child 1_7676804_GCG_MSH6 1 1 1 C 6 C Repeat-mediated f048967c-326c-11e6-bc62-6d4742c4520d 16_25399026_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 25399026 TA T 420 PASS - Del - 1 9 MSH6 child 16_25399026_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f049b8bc-3272-11e6-972e-caab7d6a9fc7 15_74301989_ACACCCAGGCTGGAGTGCAGTGGCACAGTCATGGCTTGCGGCAGCCTCAACCTCCCAGGTTCAAGTGATCCTCCTACCTTAGCCTTCCTAGTTTGTAGAGACGAGTTTTCACCATGTTGCCCAGGTTGGTCTCGAACTCCTGGGCTCCACCCACCTCGGCTTCTCAAAGTGCTGTGATTACAGGCTTGAGCCACCACGCCCAGCCAGAAGCAGGGAATTTAAAGCAGCGCAAGCCAAGATCAGGATTAGGGCTGGTGCTCCGGTCTCACTTCTCCTGAAGGCCAATCGCCTCTACTTTCTGCAGCTATGGGAGTGGGCTTTGCTATTCAGGGATGGAGGCCTGGGACATTTTAGAACAATTTGGGTTTTTTAGTTTTGTTTTTTTGAGACAGGGACTTGCTCTGTA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 15 74301989 ACACCCAGGCTGGAGTGCAGTGGCACAGTCATGGCTTGCGGCAGCCTCAACCTCCCAGGTTCAAGTGATCCTCCTACCTTAGCCTTCCTAGTTTGTAGAGACGAGTTTTCACCATGTTGCCCAGGTTGGTCTCGAACTCCTGGGCTCCACCCACCTCGGCTTCTCAAAGTGCTGTGATTACAGGCTTGAGCCACCACGCCCAGCCAGAAGCAGGGAATTTAAAGCAGCGCAAGCCAAGATCAGGATTAGGGCTGGTGCTCCGGTCTCACTTCTCCTGAAGGCCAATCGCCTCTACTTTCTGCAGCTATGGGAGTGGGCTTTGCTATTCAGGGATGGAGGCCTGGGACATTTTAGAACAATTTGGGTTTTTTAGTTTTGTTTTTTTGAGACAGGGACTTGCTCTGT A 268 PASS PML Del intronic 404 1 NEIL1 child 15_74301989_ACACCCAGGCTGGAGTGCAGTGGCACAGTCATGGCTTGCGGCAGCCTCAACCTCCCAGGTTCAAGTGATCCTCCTACCTTAGCCTTCCTAGTTTGTAGAGACGAGTTTTCACCATGTTGCCCAGGTTGGTCTCGAACTCCTGGGCTCCACCCACCTCGGCTTCTCAAAGTGCTGTGATTACAGGCTTGAGCCACCACGCCCAGCCAGAAGCAGGGAATTTAAAGCAGCGCAAGCCAAGATCAGGATTAGGGCTGGTGCTCCGGTCTCACTTCTCCTGAAGGCCAATCGCCTCTACTTTCTGCAGCTATGGGAGTGGGCTTTGCTATTCAGGGATGGAGGCCTGGGACATTTTAGAACAATTTGGGTTTTTTAGTTTTGTTTTTTTGAGACAGGGACTTGCTCTGTA_NEIL1 404 >=10 21 CACCCAGGCTGGAGTGCAGTG 0 - Microhomology-mediated f04bcc02-3299-11e6-bda6-065325c9da85 13_25229893_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 25229893 CT C 480 PASS - Del - 1 5 MSH6 child 13_25229893_CTC_MSH6 1 1 1 T 4 T Repeat-mediated f04e479e-3257-11e6-aed0-182fee3c4f5d 20_63593_GAG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 20 63593 GA G 540 PASS DEFB125 Del upstream 1 5 POLB child 20_63593_GAG_POLB 1 1 1 A 4 A Repeat-mediated f04fc3cc-326f-11e6-b9a6-d04066a58581 15_64570988_TATAT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 15 64570988 TATA T 540 PASS CSNK1G1 Del intronic 3 1 EXO1 parent 15_64570988_TATAT_EXO1 3 3 2 AT 0 - Microhomology-mediated f05633ba-3279-11e6-a391-f6d67d6a9fc7 6_167614845_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 167614845 AT A 840 PASS - Del - 1 7 MSH6 child 6_167614845_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f063b766-328c-11e6-bd84-429305ad5bc4 1_190670915_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 190670915 TA T 360 PASS RP11-463J7.2 Del intronic 1 5 MSH6 child 1_190670915_TAT_MSH6 1 1 1 A 4 A Repeat-mediated f063fd76-3290-11e6-b77d-2eef6f39e758 6_30508367_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 30508367 CA C 780 PASS GNL1 Del downstream 1 7 MSH6 child 6_30508367_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f067b2f6-329d-11e6-bc2c-2a5e25c9da85 4_65988468_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 65988468 CT C 600 PASS - Del - 1 9 MSH6 child 4_65988468_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f0736844-3284-11e6-a8af-066ea2c71c31 15_57384782_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 57384782 GT G 540 PASS TCF12 Del intronic 1 7 MSH6 child 15_57384782_GTG_MSH6 1 1 1 T 6 T Repeat-mediated f0749e86-329c-11e6-ae71-0c5325c9da85 1_179592947_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 179592947 AT A 300 PASS TDRD5 Del intronic 1 9 MSH6 child 1_179592947_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f079bc7c-3251-11e6-b6e3-b7e612ae24cf 19_11217524_GAGACGGAGTCTCGCTCTGACACCCG . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 19 11217524 GAGACGGAGTCTCGCTCTGACACCC G 660 PASS LDLR Del intronic 24 1 POLB child 19_11217524_GAGACGGAGTCTCGCTCTGACACCCG_POLB 24 >=10 2 AG 0 - Microhomology-mediated f07a0f32-3270-11e6-8418-1c5942c4520d 3_94245727_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 94245727 TA T 300 PASS - Del - 1 8 MSH6 child 3_94245727_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f07e6cca-3280-11e6-9e64-e3262eaed38e 16_47899831_AACAGA . HAP1_POLB_35-7 HAP1_parental_75_WT_DNA 16 47899831 AACAG A 540 PASS RP11-523L20.2 Del intronic 4 1 POLB child 16_47899831_AACAGA_POLB 4 4 3 ACA 0 - Microhomology-mediated f0838852-3291-11e6-a008-61a39b6d3b88 11_83590231_CCTTC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 11 83590231 CCTT C 780 PASS DLG2 Del intronic 3 1 NUDT1 child 11_83590231_CCTTC_NUDT1 3 3 2 CT 0 - Microhomology-mediated f0922d9c-3284-11e6-8b67-086ea2c71c31 1_40927466_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 40927466 CA C 540 PASS ZFP69B Del intronic 1 9 MSH6 child 1_40927466_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f0928794-3287-11e6-a21c-b819bce6aa09 X_148611134_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 148611134 TA T 540 PASS IDS Del splice_region 1 7 MSH6 child X_148611134_TAT_MSH6 1 1 1 A 6 A Repeat-mediated f0930860-327b-11e6-8026-e974e7d0bdd7 2_41176546_AAT . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 2 41176546 A AT 540 PASS - Ins - 1 6 FANCC parent 2_41176546_AAT_FANCC 1 1 - - - - Ins f096f102-32a1-11e6-bc66-17b4cc638e3d 8_36535013_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 36535013 T TA 480 PASS RP11-962G15.1 Ins intronic 1 7 MSH6 child 8_36535013_TTA_MSH6 1 1 - - - - Ins f099cbd6-3286-11e6-8b67-086ea2c71c31 1_227268207_GTTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 227268207 GTT G 420 PASS CDC42BPA Del intronic 2 8 MSH6 child 1_227268207_GTTG_MSH6 2 2 2 TT 6 T Repeat-mediated f09bb93a-328d-11e6-8f31-bfe16f39e758 9_2225646_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 2225646 CT C 360 PASS - Del - 1 8 MSH6 child 9_2225646_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f0a0edb4-3289-11e6-9c89-8d090e01a414 1_33040784_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 33040784 CT C 300 PASS ZBTB8A Del intronic 1 8 MSH6 child 1_33040784_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f0a3dd40-328d-11e6-8566-7f5c694da5d2 11_113174277_CAC . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 11 113174277 CA C 480 PASS - Del - 1 9 POLM child 11_113174277_CAC_POLM 1 1 1 A 8 A Repeat-mediated f0a5dada-3280-11e6-9066-1ba854de4fc4 14_74140340_CCGGTAATCTGGC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 14 74140340 CCGGTAATCTGG C 420 PASS DNAL1 Del intronic 11 1 FANCC child 14_74140340_CCGGTAATCTGGC_FANCC 11 >=10 1 C 0 - Microhomology-mediated f0aea5dc-3282-11e6-845d-6b29bce6aa09 X_140228464_CAC . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA X 140228464 CA C 300 PASS - Del - 1 6 POLM child X_140228464_CAC_POLM 1 1 1 A 5 A Repeat-mediated f0b04e6e-329b-11e6-aca6-b39fcc638e3d 2_141663523_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 141663523 TA T 780 PASS LRP1B Del intronic 1 9 MSH6 child 2_141663523_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f0b19fb0-3289-11e6-a80b-87090e01a414 11_40756507_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 40756507 CA C 280 PASS LRRC4C Del intronic 1 8 MSH6 child 11_40756507_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f0bc1216-3256-11e6-aa0b-72f912ae24cf 8_85647195_AATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 8 85647195 AAT A 360 PASS RALYL Del intronic 2 6 POLB child 8_85647195_AATA_POLB 2 2 2 AT 5 AT Repeat-mediated f0c0f41a-3284-11e6-99f7-076ea2c71c31 12_50594297_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 50594297 TA T 1017 PASS LIMA1 Del intronic 1 6 MSH6 child 12_50594297_TAT_MSH6 1 1 1 A 5 A Repeat-mediated f0c0f698-3272-11e6-8f33-a6d9cde16804 11_49542013_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 49542013 CA C 480 PASS - Del - 1 5 MSH6 child 11_49542013_CAC_MSH6 1 1 1 A 4 A Repeat-mediated f0cdb016-3279-11e6-92d2-c259c225ee11 3_56170567_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 56170567 A AT 720 PASS ERC2 Ins intronic 1 4 MSH6 child 3_56170567_AAT_MSH6 1 1 - - - - Ins f0d326e6-326e-11e6-a20d-eeb97872c165 17_11433584_CCAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 17 11433584 CCA C 540 PASS SHISA6 Del intronic 2 8 NEIL1 child 17_11433584_CCAC_NEIL1 2 2 2 CA 7 CA Repeat-mediated f0dd0ad4-3274-11e6-bf90-64cd7872c165 6_84607345_TTGCATTTCTCT . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 6 84607345 TTGCATTTCTC T 720 PASS CYB5R4 Del intronic 10 1 POLM child 6_84607345_TTGCATTTCTCT_POLM 10 >=10 2 TG 0 - Microhomology-mediated f0e4f4c8-328e-11e6-9d97-efe56f39e758 4_23222443_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 23222443 TA T 660 PASS - Del - 1 7 MSH6 child 4_23222443_TAT_MSH6 1 1 1 A 6 A Repeat-mediated f0e52eda-3292-11e6-b3a9-d5afe7d0bdd7 4_70011380_GGA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 4 70011380 G GA 360 PASS - Ins - 1 9 FANCC child 4_70011380_GGA_FANCC 1 1 - - - - Ins f0e5bbb6-328d-11e6-9297-a3a9cdacbbbf 10_62630931_ATA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 10 62630931 AT A 360 PASS RHOBTB1 Del 3prime_UTR_variant 1 8 POLB child 10_62630931_ATA_POLB 1 1 1 T 7 T Repeat-mediated f0e8df84-3284-11e6-99f7-076ea2c71c31 12_50632289_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 50632289 CA C 420 PASS LIMA1 Del intronic 1 8 MSH6 child 12_50632289_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f0ea670a-328e-11e6-b6a6-1f1e0e01a414 4_155396618_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 155396618 CT C 300 PASS DCHS2 Del intronic 1 9 MSH6 child 4_155396618_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f0ede69e-3290-11e6-b77d-2eef6f39e758 6_30621210_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 30621210 AT A 420 PASS DHX16 Del intronic 1 9 MSH6 child 6_30621210_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f107e85a-328b-11e6-8106-81c36f39e758 19_17583638_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 17583638 CT C 360 PASS SLC27A1 Del intronic 1 8 MSH6 child 19_17583638_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f10d31c4-3273-11e6-bfb2-2749c225ee11 12_107044192_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 107044192 TA T 480 PASS RFX4 Del intronic 1 5 MSH6 child 12_107044192_TAT_MSH6 1 1 1 A 4 A Repeat-mediated f10f5378-3278-11e6-bd08-5b1c630e6611 9_136719923_GGA . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 9 136719923 G GA 540 PASS VAV2 Ins intronic 1 7 CHK2 child 9_136719923_GGA_CHK2 1 1 - - - - Ins f10fd840-3299-11e6-ae71-0c5325c9da85 1_7851533_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 7851533 AT A 420 PASS PER3 Del intronic 1 6 MSH6 child 1_7851533_ATA_MSH6 1 1 1 T 5 T Repeat-mediated f112fa90-3283-11e6-9d58-b7936f39e758 17_10871954_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 17 10871954 GA G 300 PASS - Del - 1 3 EXO1 child 17_10871954_GAG_EXO1 1 1 1 A 2 A Repeat-mediated f116f732-329f-11e6-91d0-016425c9da85 7_146458757_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 146458757 CT C 480 PASS CNTNAP2 Del intronic 1 9 MSH6 child 7_146458757_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f1184816-3296-11e6-8ff8-970ab51afd22 X_30228460_TTA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA X 30228460 T TA 420 PASS - Ins - 1 7 NEIL1 child X_30228460_TTA_NEIL1 1 1 - - - - Ins f11b3f38-3257-11e6-8cd9-139b7872c165 3_30472142_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 30472142 TA T 414 PASS - Del - 1 8 MSH6 child 3_30472142_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f11bb83c-3275-11e6-a3f9-4821ead19ece 3_23699060_GAG . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 3 23699060 GA G 300 PASS - Del - 1 8 NEIL1 child 3_23699060_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated f11d7490-3272-11e6-abaf-4642cab49462 6_94201560_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 94201560 GT G 300 PASS - Del - 1 8 MSH6 child 6_94201560_GTG_MSH6 1 1 1 T 7 T Repeat-mediated f1205a20-329a-11e6-b549-1e5325c9da85 10_69206879_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 69206879 TA T 360 PASS CTNNA3 Del intronic 1 8 MSH6 child 10_69206879_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f1282b6a-328b-11e6-a80b-87090e01a414 11_25740115_CCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 25740115 C CT 324 PASS - Ins - 1 2 MSH6 child 11_25740115_CCT_MSH6 1 1 - - - - Ins f12a7faa-329a-11e6-b549-1e5325c9da85 10_69226895_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 69226895 CA C 360 PASS CTNNA3 Del intronic 1 9 MSH6 child 10_69226895_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f12b31c8-3323-11e6-913e-809e7098ee92 5_9111406_CAC . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 5 9111406 CA C 480 PASS SEMA5A Del intronic 1 7 POLE child 5_9111406_CAC_POLE 1 1 1 A 6 A Repeat-mediated f12d219c-3254-11e6-b4d0-327a7872c165 11_95386677_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 95386677 TA T 540 PASS - Del - 1 9 MSH6 child 11_95386677_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f12d53c0-328f-11e6-94e1-63e1191589db 3_182611025_CTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 182611025 CT C 540 PASS ATP11B Del intronic 1 9 FANCC child 3_182611025_CTC_FANCC 1 1 1 T 8 T Repeat-mediated f12d9624-3270-11e6-8418-1c5942c4520d 3_94434190_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 94434190 GT G 420 PASS - Del - 1 7 MSH6 child 3_94434190_GTG_MSH6 1 1 1 T 6 T Repeat-mediated f12dcd2c-3272-11e6-940c-da0fead19ece 11_99721348_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 11 99721348 AT A 360 PASS CNTN5 Del intronic 1 9 NEIL1 child 11_99721348_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated f12e04ba-3275-11e6-8889-c85efc77b11e 4_140121395_GAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 140121395 GA G 960 PASS - Del - 1 8 MSH6 parent 4_140121395_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f132724a-326e-11e6-9d68-ac9acab49462 15_99461285_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 99461285 AT A 360 PASS IGF1R Del intronic 1 9 MSH6 child 15_99461285_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f137eaaa-3290-11e6-92cf-bf2a0e01a414 6_138614687_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 138614687 GT G 720 PASS KIAA1244 Del intronic 1 5 MSH6 child 6_138614687_GTG_MSH6 1 1 1 T 4 T Repeat-mediated f1382f26-328e-11e6-8f31-bfe16f39e758 9_88937822_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 88937822 TA T 480 PASS ZCCHC6 Del frameshift 1 8 MSH6 child 9_88937822_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f13a99f8-3272-11e6-a539-0e5542c4520d 7_144233089_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 144233089 C CT 280 PASS TPK1 Ins intronic 1 2 MSH6 child 7_144233089_CCT_MSH6 1 1 - - - - Ins f140a9ac-3299-11e6-b129-195325c9da85 16_5707104_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 5707104 GA G 780 PASS - Del - 1 8 MSH6 child 16_5707104_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f140adc8-3274-11e6-a862-bc9becf1e924 1_171237748_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 171237748 CT C 360 PASS FMO1 Del intronic 1 9 MSH6 child 1_171237748_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f154470c-328d-11e6-ae83-5ae3191589db 6_8884021_AAAAAAAAAAAAAAAAGA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 6 8884021 AAAAAAAAAAAAAAAAG A 300 PASS - Del - 16 1 FANCC child 6_8884021_AAAAAAAAAAAAAAAAGA_FANCC 16 >=10 0 - 0 - None f157e3e8-3289-11e6-8459-82090e01a414 12_41596941_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 41596941 GA G 300 PASS PDZRN4 Del intronic 1 9 MSH6 child 12_41596941_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f16492ae-3294-11e6-b04a-0c16b968caf4 4_62263438_TAT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 4 62263438 TA T 600 PASS LPHN3 Del intronic 1 8 POLB child 4_62263438_TAT_POLB 1 1 1 A 7 A Repeat-mediated f16acd26-3277-11e6-8c34-46e27872c165 5_179577891_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 179577891 CA C 420 PASS RASGEF1C Del intronic 1 5 MSH6 child 5_179577891_CAC_MSH6 1 1 1 A 4 A Repeat-mediated f16e5a88-328e-11e6-8f31-bfe16f39e758 9_89047216_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 89047216 CT C 720 PASS - Del - 1 7 MSH6 child 9_89047216_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f1706680-3256-11e6-a304-347a7872c165 1_235993389_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 235993389 CT C 540 PASS LYST Del intronic 1 9 MSH6 child 1_235993389_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f17e912c-3299-11e6-b74d-b59fcc638e3d 18_6181324_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 6181324 CT C 300 PASS L3MBTL4 Del intronic 1 9 MSH6 child 18_6181324_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f183cb2e-326c-11e6-9d68-ac9acab49462 15_37047108_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 37047108 CA C 420 PASS C15orf41 Del intronic 1 8 MSH6 child 15_37047108_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f1847576-326f-11e6-89e3-9dd52aaffa45 10_106280239_TAT . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 10 106280239 TA T 660 PASS - Del - 1 8 NEIL1 child 10_106280239_TAT_NEIL1 1 1 1 A 7 A Repeat-mediated f1860f6a-3271-11e6-b630-aeceb41afd22 17_62534933_TAGAGGAAGCTTCT . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 17 62534933 TAGAGGAAGCTTC T 420 PASS CEP95 Del downstream 12 1 FANCC child 17_62534933_TAGAGGAAGCTTCT_FANCC 12 >=10 4 AGAG 0 - Microhomology-mediated f1889ad8-3270-11e6-8cac-d8617098ee92 10_17410548_CAC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 10 17410548 CA C 420 PASS ST8SIA6 Del intronic 1 9 FANCC child 10_17410548_CAC_FANCC 1 1 1 A 8 A Repeat-mediated f18c0a10-3270-11e6-b306-b5204b47a305 2_127940999_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 127940999 C CT 480 PASS CYP27C1 Ins downstream 1 7 MSH6 child 2_127940999_CCT_MSH6 1 1 - - - - Ins f18e2f5e-328c-11e6-bec1-ca1d0e01a414 X_44748708_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 44748708 TA T 300 PASS KDM6A Del intronic 1 8 MSH6 child X_44748708_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f190376e-328b-11e6-88c1-95c36f39e758 14_44830880_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 44830880 GA G 540 PASS RP11-305B6.3 Del intronic 1 8 MSH6 child 14_44830880_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f1974618-3285-11e6-99f7-076ea2c71c31 12_127607011_ATCA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 127607011 ATC A 480 PASS - Del - 2 6 MSH6 child 12_127607011_ATCA_MSH6 2 2 2 TC 5 TC Repeat-mediated f19a30fc-329a-11e6-8d0f-075325c9da85 14_79934719_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 79934719 AG A 780 PASS NRXN3 Del intronic 1 1 MSH6 child 14_79934719_AGA_MSH6 1 1 0 - 0 G None f1a2ad1e-3285-11e6-be43-0a6ea2c71c31 10_133124299_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 133124299 AT A 660 PASS - Del - 1 8 MSH6 child 10_133124299_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f1a51950-3276-11e6-92d2-c259c225ee11 3_47207188_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 47207188 CA C 577 PASS SETD2 Del upstream 1 9 MSH6 child 3_47207188_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f1b8a31c-3299-11e6-b129-195325c9da85 16_5783109_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 16 5783109 CA C 600 PASS - Del - 1 7 MSH6 child 16_5783109_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f1be47a6-328d-11e6-8c87-38240e01a414 22_34145110_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 22 34145110 CT C 360 PASS LARGE Del intronic 1 8 MSH6 child 22_34145110_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f1c9a81c-328d-11e6-8f31-bfe16f39e758 9_2601714_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 2601714 CA C 780 PASS - Del - 1 9 MSH6 child 9_2601714_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f1d0f6c4-328f-11e6-bb1e-70e16f39e758 X_131672671_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 131672671 AT A 660 PASS - Del - 1 6 MSH6 child X_131672671_ATA_MSH6 1 1 1 T 5 T Repeat-mediated f1d5266e-328e-11e6-b6a6-1f1e0e01a414 4_155625455_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 155625455 CT C 480 PASS LRAT Del intronic 1 5 MSH6 child 4_155625455_CTC_MSH6 1 1 1 T 4 T Repeat-mediated f1d5c8ca-329e-11e6-b696-dd6225c9da85 5_121861658_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 121861658 CT C 660 PASS - Del - 1 7 MSH6 child 5_121861658_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f1e9adf2-3291-11e6-8b9f-eea73adbad45 3_58610128_TCTGTGTTTTGACTCCTGGCCCAGTGGTCTATCTGTCACACCCTCGACCCTTTCAGTGTTCTTCCATTCTCTCTGCCCACCCCACAGCTGGAGAGAACGCTGTCTCTCCTCCTGGGGGGCCATTACAATGAAATGTCCAGCACTCTCCCTTCCATTGAGTAACAGCCATGCCATTGGGAGACAGATCTGTGGCTCCAAGGGTGGGCTCTGGTTGGCCTTAACCAACCACGTGATCCCTTCCATCCCCTGCCAGTGTGGGTTTAGGATTCTAGGCAAAGCCTATGCCCCTGACATTCCCCAGGGGACAAAGGTGAGTTCACCTAAAAGCAAAGTCCAGACCTTGCCTAAGAGGAATAGAAGCAACAACGT . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 3 58610128 TCTGTGTTTTGACTCCTGGCCCAGTGGTCTATCTGTCACACCCTCGACCCTTTCAGTGTTCTTCCATTCTCTCTGCCCACCCCACAGCTGGAGAGAACGCTGTCTCTCCTCCTGGGGGGCCATTACAATGAAATGTCCAGCACTCTCCCTTCCATTGAGTAACAGCCATGCCATTGGGAGACAGATCTGTGGCTCCAAGGGTGGGCTCTGGTTGGCCTTAACCAACCACGTGATCCCTTCCATCCCCTGCCAGTGTGGGTTTAGGATTCTAGGCAAAGCCTATGCCCCTGACATTCCCCAGGGGACAAAGGTGAGTTCACCTAAAAGCAAAGTCCAGACCTTGCCTAAGAGGAATAGAAGCAACAACG T 300 PASS FAM107A Del intronic 367 1 NEIL1 child 3_58610128_TCTGTGTTTTGACTCCTGGCCCAGTGGTCTATCTGTCACACCCTCGACCCTTTCAGTGTTCTTCCATTCTCTCTGCCCACCCCACAGCTGGAGAGAACGCTGTCTCTCCTCCTGGGGGGCCATTACAATGAAATGTCCAGCACTCTCCCTTCCATTGAGTAACAGCCATGCCATTGGGAGACAGATCTGTGGCTCCAAGGGTGGGCTCTGGTTGGCCTTAACCAACCACGTGATCCCTTCCATCCCCTGCCAGTGTGGGTTTAGGATTCTAGGCAAAGCCTATGCCCCTGACATTCCCCAGGGGACAAAGGTGAGTTCACCTAAAAGCAAAGTCCAGACCTTGCCTAAGAGGAATAGAAGCAACAACGT_NEIL1 367 >=10 23 CTGTGTTTTGACTCCTGGCCCAG 0 - Microhomology-mediated f1eed9d4-326f-11e6-b306-b5204b47a305 2_34203559_AAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 34203559 A AC 360 PASS AC009499.1 Ins intronic 1 2 MSH6 child 2_34203559_AAC_MSH6 1 1 - - - - Ins f1f24d60-328a-11e6-8459-82090e01a414 12_98910556_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 98910556 AT A 300 PASS TMPO Del intronic 1 5 MSH6 child 12_98910556_ATA_MSH6 1 1 1 T 4 T Repeat-mediated f1f4a810-3278-11e6-bb6d-38aec042253c 3_137241535_CGC . HAP1_CHK2_56-7 HAP1_parental_75_WT_DNA 3 137241535 CG C 540 PASS RNA5SP142 Del upstream 1 1 CHK2 child 3_137241535_CGC_CHK2 1 1 0 - 0 G None f1f67502-3271-11e6-abaf-4642cab49462 6_27672223_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 27672223 CA C 300 PASS - Del - 1 8 MSH6 child 6_27672223_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f2015802-326f-11e6-b923-6726694da5d2 5_33709631_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 33709631 TA T 480 PASS ADAMTS12 Del intronic 1 5 MSH6 child 5_33709631_TAT_MSH6 1 1 1 A 4 A Repeat-mediated f2046868-3273-11e6-a862-bc9becf1e924 1_100281125_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 100281125 GA G 780 PASS - Del - 1 8 MSH6 child 1_100281125_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f210c3f4-3284-11e6-8ebc-68f1bbe6aa09 18_63056724_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 18 63056724 GT G 600 PASS - Del - 1 7 MSH6 child 18_63056724_GTG_MSH6 1 1 1 T 6 T Repeat-mediated f21a2dc0-3254-11e6-b4d0-327a7872c165 11_95628552_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 95628552 GA G 600 PASS MTMR2 Del intronic 1 7 MSH6 child 11_95628552_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f2211de6-326e-11e6-aa5d-c85dcde16804 12_21274574_GTG . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 12 21274574 GT G 360 PASS - Del - 1 7 NEIL1 child 12_21274574_GTG_NEIL1 1 1 1 T 6 T Repeat-mediated f222d35c-325a-11e6-8340-da9012ae24cf 6_168189067_CGC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 168189067 CG C 720 PASS - Del - 1 6 MSH6 child 6_168189067_CGC_MSH6 1 1 1 G 5 G Repeat-mediated f22a2212-3285-11e6-b093-c9c7b0dab373 2_124227189_TGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 124227189 TG T 360 PASS - Del - 1 1 MSH6 child 2_124227189_TGT_MSH6 1 1 0 - 0 G None f22dc6da-3256-11e6-9d5a-0c8112ae24cf 9_93293004_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 9 93293004 GT G 480 PASS RP11-555F9.2 Del intronic 1 9 MSH6 child 9_93293004_GTG_MSH6 1 1 1 T 8 T Repeat-mediated f234bb16-328d-11e6-b9c4-751d0e01a414 5_114580685_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 5 114580685 CT C 720 PASS PGGT1B Del intronic 1 9 MSH6 child 5_114580685_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f23621b0-3286-11e6-a284-4b89a2c71c31 4_38269052_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 38269052 TA T 480 PASS - Del - 1 9 MSH6 child 4_38269052_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f245c290-325a-11e6-8340-da9012ae24cf 6_168209644_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 168209644 CA C 300 PASS - Del - 1 9 MSH6 child 6_168209644_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f2471fc4-328b-11e6-bd84-429305ad5bc4 1_52162475_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 52162475 GT G 420 PASS OSBPL9 Del intronic 1 9 MSH6 child 1_52162475_GTG_MSH6 1 1 1 T 8 T Repeat-mediated f25341a6-3253-11e6-a03d-40f212ae24cf 18_29108237_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 18 29108237 TA T 360 PASS DSG2 Del intronic 1 8 MSH6 child 18_29108237_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f256d718-3284-11e6-8fa3-1d15038949d4 4_187565052_TAGTAT . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 4 187565052 TAGTA T 660 PASS FAT1 Del intronic 4 2 POLM child 4_187565052_TAGTAT_POLM 4 4 4 AGTA 1 AGTA Repeat-mediated f25af4d8-3284-11e6-baa3-81ed1da8ec0e X_80421420_GTG . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA X 80421420 GT G 540 PASS HMGN5 Del intronic 1 1 EXO1 child X_80421420_GTG_EXO1 1 1 0 - 0 T None f260722e-3279-11e6-a391-f6d67d6a9fc7 6_168213728_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 168213728 AT A 480 PASS - Del - 1 8 MSH6 child 6_168213728_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f2677012-3272-11e6-bfb2-2749c225ee11 12_43013155_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 43013155 TA T 1020 PASS RP11-609L23.1 Del intronic 1 9 MSH6 child 12_43013155_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f2746430-3253-11e6-a304-347a7872c165 1_24176982_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 24176982 AT A 300 PASS FUCA1 Del intronic 1 5 MSH6 child 1_24176982_ATA_MSH6 1 1 1 T 4 T Repeat-mediated f276eef2-3272-11e6-bfb2-2749c225ee11 12_43017817_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 43017817 GA G 660 PASS RP11-609L23.1 Del intronic 1 9 MSH6 child 12_43017817_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f2839308-32a1-11e6-a04f-c66a25c9da85 6_169992473_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 169992473 GA G 360 PASS WDR27 Del intronic 1 7 MSH6 child 6_169992473_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f294e012-327f-11e6-b263-76d64dc77248 8_57685794_TAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 8 57685794 TA T 408 PASS - Del - 1 1 NUDT1 child 8_57685794_TAT_NUDT1 1 1 0 - 0 A None f2969e16-3324-11e6-9271-15989d7ad846 5_113244347_ATA . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 5 113244347 AT A 300 PASS - Del - 1 9 CHK2 child 5_113244347_ATA_CHK2 1 1 1 T 8 T Repeat-mediated f296a354-329b-11e6-a0ea-135325c9da85 15_83876627_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 83876627 TC T 360 PASS HDGFRP3 Del 5prime_UTR_variant 1 9 MSH6 child 15_83876627_TCT_MSH6 1 1 1 C 8 C Repeat-mediated f2a66e04-328e-11e6-b55e-be65694da5d2 X_23010461_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA X 23010461 AT A 900 PASS RP11-40F8.2 Del intronic 1 6 POLM child X_23010461_ATA_POLM 1 1 1 T 5 T Repeat-mediated f2a67398-3281-11e6-b2ac-df03987b3f23 12_22418628_CCTC . HAP1_NEIL1_3 HAP1_parental_75_WT_DNA 12 22418628 CCT C 480 PASS ST8SIA1 Del intronic 2 4 NEIL1 parent 12_22418628_CCTC_NEIL1 2 2 2 CT 3 CT Repeat-mediated f2ac9f68-3270-11e6-9d19-c216987b3f23 21_47639363_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 21 47639363 CA C 420 PASS LSS Del intronic 1 2 MSH6 child 21_47639363_CAC_MSH6 1 1 1 A 1 A Repeat-mediated f2aeca64-3292-11e6-a366-d0257a852e0e 2_241547254_CCTTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 2 241547254 CCTT C 360 PASS GPR35 Del intronic 3 1 CHK2 child 2_241547254_CCTTC_CHK2 3 3 2 CT 0 - Microhomology-mediated f2b4fd90-326e-11e6-b306-b5204b47a305 2_207464619_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 207464619 AT A 300 PASS ADAM23 Del intronic 1 5 MSH6 child 2_207464619_ATA_MSH6 1 1 1 T 4 T Repeat-mediated f2b6fd44-3272-11e6-a76d-26961565c797 1_14666933_CTTC . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 1 14666933 CTT C 480 PASS - Del - 2 2 EXO1 child 1_14666933_CTTC_EXO1 2 2 0 - 0 - None f2ba55fe-3289-11e6-a80b-87090e01a414 11_41150320_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 41150320 AT A 300 PASS LRRC4C Del intronic 1 7 MSH6 child 11_41150320_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f2bb468e-3285-11e6-9a94-1d822aaffa45 6_92804310_ATA . HAP1_POLE_34-7 HAP1_parental_75_WT_DNA 6 92804310 AT A 600 PASS - Del - 1 5 POLE child 6_92804310_ATA_POLE 1 1 1 T 4 T Repeat-mediated f2bb98ec-3270-11e6-b89d-b2d6b0dab373 4_97527172_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 97527172 AT A 540 PASS RP11-145G20.1 Del intronic 1 7 MSH6 child 4_97527172_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f2be61de-3253-11e6-a4a7-35f212ae24cf 14_46917451_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 46917451 GA G 360 PASS LINC00871 Del intronic 1 9 MSH6 child 14_46917451_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f2c63d92-3289-11e6-bbaf-7c090e01a414 19_23984685_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 23984685 CT C 300 PASS - Del - 1 8 MSH6 child 19_23984685_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f2c786be-3286-11e6-a5b3-3f1ebce6aa09 7_48722422_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 48722422 TA T 660 PASS - Del - 1 8 MSH6 child 7_48722422_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f2c7ba88-328d-11e6-9d96-745238e8a824 19_11563398_TCTTTTTTGTTCT . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 19 11563398 TCTTTTTTGTTC T 360 PASS ELAVL3 Del 3prime_UTR_variant 11 1 FANCC child 19_11563398_TCTTTTTTGTTCT_FANCC 11 >=10 3 CTT 0 - Microhomology-mediated f2cc5cee-3276-11e6-998e-ba48fa52e078 8_93148671_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 93148671 GT G 540 PASS - Del - 1 6 MSH6 child 8_93148671_GTG_MSH6 1 1 1 T 5 T Repeat-mediated f2cf42f0-3321-11e6-814a-c8fe4430f757 1_108299527_GAG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 1 108299527 GA G 300 PASS VAV3 Del intronic 1 7 CHK2 child 1_108299527_GAG_CHK2 1 1 1 A 6 A Repeat-mediated f2d97b96-329d-11e6-a5cf-e5abcc638e3d 9_127331431_TCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 127331431 TC T 1080 PASS NR6A1 Del intronic 1 7 MSH6 child 9_127331431_TCT_MSH6 1 1 1 C 6 C Repeat-mediated f2dd3df8-328e-11e6-a278-48230e01a414 21_46103713_CCA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 46103713 C CA 420 PASS TSPEAR Ins intronic 1 5 MSH6 child 21_46103713_CCA_MSH6 1 1 - - - - Ins f2e3956c-3320-11e6-9ab5-b30c2eaed38e 10_25803250_ACA . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 10 25803250 AC A 540 PASS GPR158 Del intronic 1 1 EXO1 child 10_25803250_ACA_EXO1 1 1 0 - 0 C None f2e57b22-328d-11e6-a278-48230e01a414 21_35814270_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 35814270 AT A 420 PASS KCNE1 Del downstream 1 5 MSH6 child 21_35814270_ATA_MSH6 1 1 1 T 4 T Repeat-mediated f2ed63cc-3275-11e6-9e25-e58e2aaffa45 4_45464263_TAT . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 4 45464263 TA T 522 PASS - Del - 1 6 EXO1 child 4_45464263_TAT_EXO1 1 1 1 A 5 A Repeat-mediated f305e600-3251-11e6-b240-4005ee3c4f5d 14_54252815_CAC . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 14 54252815 CA C 300 PASS AL162759.1 Del intronic 1 9 POLB child 14_54252815_CAC_POLB 1 1 1 A 8 A Repeat-mediated f307429e-3273-11e6-a390-fc104530f757 1_216199186_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 216199186 AT A 480 PASS USH2A Del intronic 1 5 FANCC child 1_216199186_ATA_FANCC 1 1 1 T 4 T Repeat-mediated f3162c00-328c-11e6-bd84-429305ad5bc4 1_192154126_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 192154126 CT C 480 PASS RGS18 Del 3prime_UTR_variant 1 8 MSH6 child 1_192154126_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f31e0874-328e-11e6-b2c7-1b63694da5d2 9_83117589_ATA . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 9 83117589 AT A 780 PASS - Del - 1 5 POLM child 9_83117589_ATA_POLM 1 1 1 T 4 T Repeat-mediated f32830ca-326f-11e6-aee1-fd97191589db 3_15283603_ATA . HAP1_POLM_21 HAP1_parental_75_WT_DNA 3 15283603 AT A 360 PASS CAPN7 Del intronic 1 7 POLM parent 3_15283603_ATA_POLM 1 1 1 T 6 T Repeat-mediated f328c2bc-3290-11e6-b77d-2eef6f39e758 6_31023466_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 6 31023466 CT C 480 PASS HCG22 Del intronic 1 9 MSH6 child 6_31023466_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f32bbd2a-328e-11e6-bfa2-581f0e01a414 7_134669275_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 134669275 CT C 660 PASS AGBL3 Del upstream 1 8 MSH6 child 7_134669275_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f32d144c-328c-11e6-8e48-791e0e01a414 8_28663764_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 28663764 CA C 660 PASS INTS9 Del intronic 1 8 MSH6 child 8_28663764_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f32d5294-334b-11e6-911d-cdceb0dab373 9_84978465_ACA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 9 84978465 AC A 300 PASS RP11-15B24.5 Del intronic 1 4 FANCC child 9_84978465_ACA_FANCC 1 1 1 C 3 C Repeat-mediated f333e834-3283-11e6-b293-6ca635cec73b 11_25525617_ATA . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 11 25525617 AT A 480 PASS - Del - 1 8 POLE child 11_25525617_ATA_POLE 1 1 1 T 7 T Repeat-mediated f34150c2-329d-11e6-bc2c-2a5e25c9da85 4_66704566_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 66704566 GT G 480 PASS - Del - 1 6 MSH6 child 4_66704566_GTG_MSH6 1 1 1 T 5 T Repeat-mediated f341c45c-3299-11e6-8d0f-075325c9da85 14_23439416_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 23439416 CT C 360 PASS AJUBA Del downstream 1 9 MSH6 child 14_23439416_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f3425690-3273-11e6-90fa-056466a58581 4_19087705_CATC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 4 19087705 CAT C 300 PASS - Del - 2 1 FANCC child 4_19087705_CATC_FANCC 2 2 1 A 0 - Microhomology-mediated f347e6bc-327f-11e6-b4af-d90d7e6a9fc7 9_12703579_CCATAT . HAP1_POLB_35 HAP1_parental_75_WT_DNA 9 12703579 C CATAT 540 PASS TYRP1 Ins intronic 4 3 POLB parent 9_12703579_CCATAT_POLB 4 4 - - - - Ins f348d998-3322-11e6-ae98-b2b5fa52e078 2_205573867_GAG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 2 205573867 GA G 300 PASS PARD3B Del intronic 1 9 EXO1 child 2_205573867_GAG_EXO1 1 1 1 A 8 A Repeat-mediated f35394c6-3252-11e6-b676-5605ee3c4f5d 12_111917520_ATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 12 111917520 AT A 600 PASS ATXN2 Del intronic 1 9 POLB child 12_111917520_ATA_POLB 1 1 1 T 8 T Repeat-mediated f3550cca-3275-11e6-98dc-d270cde16804 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 22 41558882 TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGG TTAAAAATAGATAATTAT 360 PASS EP300 Complex ess_splice 1593 0 MSH6 child 22_41558882_TTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTAAAAATAGATAATTAT_MSH6 1576 >=10 - - - - Complex f35b7a0e-326d-11e6-b2ac-b6204b47a305 17_81001822_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 81001822 TA T 420 PASS B3GNTL1 Del intronic 1 8 MSH6 child 17_81001822_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f35cee70-329f-11e6-bc66-17b4cc638e3d 8_72486768_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 72486768 CT C 660 PASS - Del - 1 4 MSH6 child 8_72486768_CTC_MSH6 1 1 1 T 3 T Repeat-mediated f35db00e-328a-11e6-a80b-87090e01a414 11_104679599_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 104679599 CA C 420 PASS - Del - 1 7 MSH6 child 11_104679599_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f35fabdc-3255-11e6-a0fc-e737fa52e078 2_150497354_ATA . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 2 150497354 AT A 480 PASS - Del - 1 8 POLM child 2_150497354_ATA_POLM 1 1 1 T 7 T Repeat-mediated f362565c-3273-11e6-8607-751ad9b4fa2c 22_25536337_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 25536337 CT C 360 PASS KIAA1671 Del intronic 1 9 MSH6 child 22_25536337_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f36476ba-328e-11e6-b6a6-1f1e0e01a414 4_156399886_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 156399886 CT C 480 PASS - Del - 1 9 MSH6 child 4_156399886_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f365cfea-3286-11e6-86e9-d4770d016689 X_112437987_TAGAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 112437987 TAGA T 720 PASS - Del - 3 2 EXO1 child X_112437987_TAGAT_EXO1 3 3 3 AGA 1 AGA Repeat-mediated f3683718-3294-11e6-9985-7c540d016689 6_21738080_CAC . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 6 21738080 CA C 300 PASS CASC15 Del intronic 1 9 NUDT1 child 6_21738080_CAC_NUDT1 1 1 1 A 8 A Repeat-mediated f36c3f46-3273-11e6-bfb2-2749c225ee11 12_107731836_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 107731836 AT A 600 PASS BTBD11 Del intronic 1 8 MSH6 child 12_107731836_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f36e079a-328c-11e6-8952-77c36f39e758 10_90729059_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 90729059 CA C 300 PASS ACTA2 Del intronic 1 9 MSH6 child 10_90729059_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f374b1c4-328e-11e6-919e-92c36f39e758 2_229657067_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 229657067 GA G 540 PASS - Del - 1 9 MSH6 child 2_229657067_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f37aa990-3323-11e6-9b94-35fee9d19ece 9_98642708_GTAG . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 9 98642708 GTA G 420 PASS ERCC6L2 Del intronic 2 5 POLE child 9_98642708_GTAG_POLE 2 2 2 TA 4 TA Repeat-mediated f384b6a6-327e-11e6-ac5a-c6aa3adbad45 X_78867883_TTAT . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA X 78867883 TTA T 420 PASS - Del - 2 7 NUDT1 child X_78867883_TTAT_NUDT1 2 2 2 TA 6 TA Repeat-mediated f3a7bbc2-3285-11e6-83b0-2c6e0d016689 2_236832525_GAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 2 236832525 GA G 300 PASS AGAP1 Del intronic 1 9 EXO1 child 2_236832525_GAG_EXO1 1 1 1 A 8 A Repeat-mediated f3abb150-328a-11e6-b805-77090e01a414 2_112376084_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 112376084 CA C 780 PASS - Del - 1 8 MSH6 child 2_112376084_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f3b690c2-3274-11e6-a6a8-746da178171f 4_57371028_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 4 57371028 AT A 540 PASS SRP72 Del downstream 1 8 NEIL1 child 4_57371028_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated f3c85520-329a-11e6-b74d-b59fcc638e3d 18_71965845_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 71965845 AC A 480 PASS - Del - 1 6 MSH6 child 18_71965845_ACA_MSH6 1 1 1 C 5 C Repeat-mediated f3cce7a2-328b-11e6-94b1-74090e01a414 17_56782275_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 56782275 A AT 360 PASS RAD51C Ins intronic 1 9 MSH6 child 17_56782275_AAT_MSH6 1 1 - - - - Ins f3cf04ac-328a-11e6-a8ac-a28ea2c71c31 3_143892266_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 143892266 T TA 960 PASS - Ins - 1 5 MSH6 child 3_143892266_TTA_MSH6 1 1 - - - - Ins f3d6682a-3256-11e6-8d59-25a02aaffa45 4_26227473_GAG . HAP1_POLM_21-9 HAP1_parental_75_WT_DNA 4 26227473 GA G 540 PASS RBPJ Del intronic 1 8 POLM child 4_26227473_GAG_POLM 1 1 1 A 7 A Repeat-mediated f3dfc546-3274-11e6-8f33-a6d9cde16804 11_92495213_CCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 11 92495213 C CT 600 PASS FAT3 Ins frameshift 1 1 MSH6 child 11_92495213_CCT_MSH6 1 1 - - - - Ins f3e41d06-328a-11e6-a80b-87090e01a414 11_104753789_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 104753789 AT A 600 PASS CASP12 Del downstream 1 9 MSH6 child 11_104753789_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f3ed00b8-328c-11e6-bec1-ca1d0e01a414 X_45817033_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 45817033 GT G 300 PASS - Del - 1 9 MSH6 child X_45817033_GTG_MSH6 1 1 1 T 8 T Repeat-mediated f3f84fbc-328d-11e6-a724-38ab4430f757 1_108800083_ATA . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 1 108800083 AT A 491 PASS RP11-483I13.2 Del downstream 1 5 POLE child 1_108800083_ATA_POLE 1 1 1 T 4 T Repeat-mediated f3ffe812-3274-11e6-ab69-1c1607e9a829 9_21207298_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 21207298 AT A 600 PASS IFNA10 Del upstream 1 8 MSH6 child 9_21207298_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f4009a20-328b-11e6-bd84-429305ad5bc4 1_52842630_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 52842630 GA G 320 PASS ORC1 Del intronic 1 5 MSH6 child 1_52842630_GAG_MSH6 1 1 1 A 4 A Repeat-mediated f400b34e-3285-11e6-afcf-0311bce6aa09 9_12677036_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 12677036 GA G 540 PASS - Del - 1 9 MSH6 child 9_12677036_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f401d8b6-32a1-11e6-a04f-c66a25c9da85 6_170569782_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 170569782 CA C 360 PASS - Del - 1 9 MSH6 child 6_170569782_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f4038e3e-328a-11e6-a75f-859bcdacbbbf 9_71805631_ACA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 9 71805631 AC A 540 PASS TJP2 Del intronic 1 3 FANCC child 9_71805631_ACA_FANCC 1 1 1 C 2 C Repeat-mediated f421c54c-329a-11e6-ae71-0c5325c9da85 1_53109941_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 53109941 CA C 420 PASS FAM159A Del intronic 1 9 MSH6 child 1_53109941_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f430dd9c-328c-11e6-b4fe-93c36f39e758 12_86280234_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 86280234 GA G 600 PASS NTS Del downstream 1 7 MSH6 child 12_86280234_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f43dc9b8-3286-11e6-a5b3-3f1ebce6aa09 7_49293229_ACA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 49293229 AC A 360 PASS AC010971.1 Del intronic 1 1 MSH6 child 7_49293229_ACA_MSH6 1 1 0 - 0 C None f43e4da6-328c-11e6-aa75-90c36f39e758 13_111298078_AGA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 13 111298078 AG A 480 PASS CARS2 Del intronic 1 4 MSH6 child 13_111298078_AGA_MSH6 1 1 1 G 3 G Repeat-mediated f440b736-3254-11e6-b4d0-327a7872c165 11_96077049_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 96077049 CT C 600 PASS MAML2 Del upstream 1 9 MSH6 child 11_96077049_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f447a9ee-3275-11e6-a71d-236235cec73b X_53581188_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 53581188 GT G 600 PASS HUWE1 Del intronic 1 9 MSH6 child X_53581188_GTG_MSH6 1 1 1 T 8 T Repeat-mediated f44b367a-3321-11e6-b981-016519a91649 2_151675240_CTC . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 2 151675240 CT C 480 PASS - Del - 1 5 CHK2 child 2_151675240_CTC_CHK2 1 1 1 T 4 T Repeat-mediated f453004e-328b-11e6-bba4-c0bdcc638e3d 9_80151842_ATA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 9 80151842 AT A 660 PASS GNA14 Del intronic 1 9 NUDT1 child 9_80151842_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated f455e066-3290-11e6-8b21-746a694da5d2 22_34716575_AAT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 22 34716575 A AT 720 PASS - Ins - 1 4 POLM child 22_34716575_AAT_POLM 1 1 - - - - Ins f45e298c-329b-11e6-ae71-0c5325c9da85 1_114747163_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 114747163 TA T 480 PASS RP4-543J13.1 Del downstream 1 9 MSH6 child 1_114747163_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f462af5a-329d-11e6-b696-dd6225c9da85 5_52686435_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 52686435 GA G 780 PASS - Del - 1 8 MSH6 child 5_52686435_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f464515c-3257-11e6-91d3-a68412ae24cf 7_108563703_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 7 108563703 CT C 420 PASS AC004014.3 Del intronic 1 8 MSH6 child 7_108563703_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f4697d0e-328d-11e6-a927-37059c6d3b88 14_70193914_TTAGCT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 14 70193914 TTAGC T 600 PASS SRSF5 Del splice_region 4 1 POLB child 14_70193914_TTAGCT_POLB 4 4 1 T 0 - Microhomology-mediated f46b3080-328e-11e6-9432-c0e56f39e758 5_26145660_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 26145660 GA G 360 PASS - Del - 1 9 MSH6 child 5_26145660_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f4778328-327d-11e6-a700-ff0e9ecd0b3a 4_18181251_GTG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 4 18181251 GT G 480 PASS - Del - 1 5 POLM child 4_18181251_GTG_POLM 1 1 1 T 4 T Repeat-mediated f493cdf6-328e-11e6-92cf-bf2a0e01a414 6_16619291_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 16619291 TA T 420 PASS ATXN1 Del intronic 1 7 MSH6 child 6_16619291_TAT_MSH6 1 1 1 A 6 A Repeat-mediated f49911e4-3289-11e6-8eee-76090e01a414 10_46025565_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 46025565 GT G 360 PASS MARCH8 Del intronic 1 7 MSH6 child 10_46025565_GTG_MSH6 1 1 1 T 6 T Repeat-mediated f49a07f2-328e-11e6-8f31-bfe16f39e758 9_90137984_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 90137984 AT A 480 PASS DAPK1 Del intronic 1 9 MSH6 child 9_90137984_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f4a5d728-327d-11e6-a700-ff0e9ecd0b3a 4_18241560_GAGAGAGTAAGATTCAGAGAGCG . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 4 18241560 GAGAGAGTAAGATTCAGAGAGC G 600 PASS - Del - 21 1 POLM child 4_18241560_GAGAGAGTAAGATTCAGAGAGCG_POLM 21 >=10 1 A 0 - Microhomology-mediated f4a93f44-3287-11e6-a21c-b819bce6aa09 X_150462099_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 150462099 GT G 300 PASS - Del - 1 8 MSH6 child X_150462099_GTG_MSH6 1 1 1 T 7 T Repeat-mediated f4aa720a-332d-11e6-a5c2-ba124530f757 8_141389827_CCA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 8 141389827 C CA 600 PASS TRAPPC9 Ins intronic 1 5 CHK2 child 8_141389827_CCA_CHK2 1 1 - - - - Ins f4acecd0-3272-11e6-9309-bdc34a47a305 8_90786412_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 8 90786412 T TA 300 PASS RIPK2 Ins intronic 1 5 MSH6 child 8_90786412_TTA_MSH6 1 1 - - - - Ins f4b5fe62-32a2-11e6-bc66-17b4cc638e3d 8_107372865_GGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 8 107372865 G GA 480 PASS OXR1 Ins intronic 1 8 MSH6 child 8_107372865_GGA_MSH6 1 1 - - - - Ins f4be0608-328d-11e6-8f31-bfe16f39e758 9_3608663_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 3608663 GT G 780 PASS RP11-509J21.1 Del intronic 1 5 MSH6 child 9_3608663_GTG_MSH6 1 1 1 T 4 T Repeat-mediated f4c95e4e-3270-11e6-b923-6726694da5d2 5_107815583_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 107815583 CT C 420 PASS - Del - 1 7 MSH6 child 5_107815583_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f4cd7b28-3289-11e6-821d-8c090e01a414 13_58457311_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 58457311 GA G 420 PASS - Del - 1 9 MSH6 child 13_58457311_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f4cf691a-3284-11e6-8b67-086ea2c71c31 1_42260274_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 42260274 CA C 480 PASS HIVEP3 Del intronic 1 7 MSH6 child 1_42260274_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f4de05e4-3273-11e6-af00-e951e7d0bdd7 19_48534345_GTATGTTGCAGTTTCTTCATTTCTGTG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 19 48534345 GTATGTTGCAGTTTCTTCATTTCTGT G 300 PASS CABP5 Del intronic 25 1 POLB child 19_48534345_GTATGTTGCAGTTTCTTCATTTCTGTG_POLB 25 >=10 4 TATG 0 - Microhomology-mediated f4e0e3d4-3289-11e6-9453-299c20e7b7a8 2_223601543_GTG . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 2 223601543 GT G 600 PASS - Del - 1 8 POLE child 2_223601543_GTG_POLE 1 1 1 T 7 T Repeat-mediated f4e15fcc-328d-11e6-88c8-e0035e753391 19_32488205_TAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 19 32488205 TA T 480 PASS CTC-360P9.4 Del intronic 1 9 POLB child 19_32488205_TAT_POLB 1 1 1 A 8 A Repeat-mediated f4e6ae94-328a-11e6-b805-77090e01a414 2_112596044_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 112596044 CT C 408 PASS ANAPC1 Del frameshift 1 6 MSH6 child 2_112596044_CTC_MSH6 1 1 1 T 5 T Repeat-mediated f4e825b6-328b-11e6-b910-5ccc977b3f23 17_31425914_GTAG . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 17 31425914 GTA G 300 PASS ASIC2 Del intronic 2 6 NEIL1 child 17_31425914_GTAG_NEIL1 2 2 2 TA 5 TA Repeat-mediated f4ebc42a-3289-11e6-8459-82090e01a414 12_42524349_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 42524349 TA T 480 PASS GXYLT1 Del intronic 1 9 MSH6 child 12_42524349_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f4ee6e0a-3284-11e6-a0a8-096ea2c71c31 11_57159086_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 11 57159086 AT A 540 PASS PRG2 Del upstream 1 7 MSH6 child 11_57159086_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f4f25ad6-3272-11e6-9e18-3a69671699ea 10_36833040_GTCG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 36833040 GTC G 480 PASS - Del - 2 2 MSH6 child 10_36833040_GTCG_MSH6 2 2 2 TC 1 TC Repeat-mediated f4f34b82-3289-11e6-b74f-549ba2c71c31 20_11034817_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 20 11034817 TA T 480 PASS - Del - 1 9 MSH6 child 20_11034817_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f506c73a-3292-11e6-92cf-bf2a0e01a414 6_87285754_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 87285754 G GT 342 PASS - Ins - 1 6 MSH6 child 6_87285754_GGT_MSH6 1 1 - - - - Ins f5140a56-3271-11e6-b89d-b2d6b0dab373 4_165407347_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 165407347 GA G 300 PASS - Del - 1 5 MSH6 child 4_165407347_GAG_MSH6 1 1 1 A 4 A Repeat-mediated f519263a-328f-11e6-850b-ec0b9c6d3b88 4_43126062_CATC . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 43126062 CAT C 360 PASS - Del - 2 2 POLB child 4_43126062_CATC_POLB 2 2 2 AT 1 AT Repeat-mediated f524294a-3276-11e6-83cd-a472a178171f 4_137919592_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 137919592 CT C 480 PASS RP11-138I17.1 Del intronic 1 8 MSH6 child 4_137919592_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f52a61f2-328f-11e6-b184-c4257a852e0e 12_32281884_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 12 32281884 CT C 300 PASS BICD1 Del intronic 1 9 CHK2 child 12_32281884_CTC_CHK2 1 1 1 T 8 T Repeat-mediated f53e1a06-328c-11e6-9f18-f1d1996ede67 3_111371895_CAGGC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 3 111371895 CAGG C 300 PASS CD96 Del downstream 3 1 CHK2 child 3_111371895_CAGGC_CHK2 3 3 2 AG 0 - Microhomology-mediated f5425672-326c-11e6-b9f4-5d1d694da5d2 14_45524091_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 14 45524091 GA G 300 PASS FAM179B Del intronic 1 9 MSH6 child 14_45524091_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f544f4ec-329c-11e6-a5cf-205325c9da85 11_61733588_TTA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 61733588 T TA 420 PASS BEST1 Ins downstream 1 8 MSH6 child 11_61733588_TTA_MSH6 1 1 - - - - Ins f54825b2-3270-11e6-b923-6726694da5d2 5_108018019_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 108018019 AT A 540 PASS - Del - 1 9 MSH6 child 5_108018019_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f548f2ca-328a-11e6-8909-3ebb38e8a824 9_40648933_TTA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA 9 40648933 T TA 322 PASS - Ins - 1 4 NUDT1 parent 9_40648933_TTA_NUDT1 1 1 - - - - Ins f54af0f6-328b-11e6-b43c-7ec36f39e758 16_24300644_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 16 24300644 GA G 300 PASS CACNG3 Del intronic 1 8 MSH6 child 16_24300644_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f54b0e22-3288-11e6-baf1-58044530f757 3_140368613_TAT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 3 140368613 TA T 300 PASS - Del - 1 9 EXO1 child 3_140368613_TAT_EXO1 1 1 1 A 8 A Repeat-mediated f5507320-3289-11e6-9c89-8d090e01a414 1_33750340_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 33750340 GA G 300 PASS ZNF362 Del intronic 1 9 MSH6 child 1_33750340_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f552ccd6-3272-11e6-975f-8246cab49462 16_31517671_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 31517671 CA C 600 PASS C16orf58 Del intronic 1 8 MSH6 child 16_31517671_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f557fe3a-3278-11e6-92d2-c259c225ee11 3_193067490_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 193067490 GT G 600 PASS ATP13A5 Del intronic 1 7 MSH6 child 3_193067490_GTG_MSH6 1 1 1 T 6 T Repeat-mediated f55feee2-328c-11e6-b8e6-91c36f39e758 11_94940107_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 94940107 AT A 780 PASS SESN3 Del intronic 1 9 MSH6 child 11_94940107_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f55fffe2-329e-11e6-b696-dd6225c9da85 5_122656070_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 122656070 GA G 300 PASS - Del - 1 9 MSH6 child 5_122656070_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f566ba70-3290-11e6-b0cf-8b7219a91649 7_8515296_CTC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 7 8515296 CT C 480 PASS NXPH1 Del intronic 1 8 NEIL1 child 7_8515296_CTC_NEIL1 1 1 1 T 7 T Repeat-mediated f5687d24-329f-11e6-aea7-956725c9da85 3_98050058_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 98050058 CA C 600 PASS RP11-325B23.2 Del intronic 1 9 MSH6 child 3_98050058_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f57d753c-32a2-11e6-b970-398625c9da85 20_40433743_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 20 40433743 CT C 516 PASS - Del - 1 7 MSH6 child 20_40433743_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f58175d6-329a-11e6-8848-de28c7271a47 8_119491350_CTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 8 119491350 CT C 300 PASS SAMD12 Del intronic 1 3 CHK2 child 8_119491350_CTC_CHK2 1 1 1 T 2 T Repeat-mediated f5828d22-3277-11e6-9241-55e60d01a414 8_53673421_GGA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 8 53673421 G GA 720 PASS - Ins - 1 6 MSH6 parent 8_53673421_GGA_MSH6 1 1 - - - - Ins f5837a18-3289-11e6-8e41-628fa178171f 22_38512235_CAGGC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 22 38512235 CAGG C 360 PASS PLA2G6 Del intronic 3 2 FANCC child 22_38512235_CAGGC_FANCC 3 3 3 AGG 1 AGG Repeat-mediated f584206e-326e-11e6-9d68-ac9acab49462 15_100620891_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 100620891 CT C 360 PASS ADAMTS17 Del intronic 1 7 MSH6 child 15_100620891_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f58f832c-3274-11e6-b8ae-92c57872c165 14_84141453_CCA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 14 84141453 C CA 600 PASS - Ins - 1 7 MSH6 child 14_84141453_CCA_MSH6 1 1 - - - - Ins f59102c6-329a-11e6-8d0f-075325c9da85 14_81316333_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 81316333 GA G 660 PASS CEP128 Del intronic 1 7 MSH6 child 14_81316333_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f593135a-3253-11e6-b4d0-327a7872c165 11_28684172_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 28684172 AT A 540 PASS - Del - 1 8 MSH6 child 11_28684172_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f5962f66-325a-11e6-8cd9-139b7872c165 3_50488564_GGT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 50488564 G GT 360 PASS CACNA2D2 Ins intronic 1 8 MSH6 child 3_50488564_GGT_MSH6 1 1 - - - - Ins f5a28bc2-3286-11e6-b84c-a2a0fc1f1540 1_188134844_CCTATGTATTATCTCTTAC . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 1 188134844 CCTATGTATTATCTCTTA C 300 PASS - Del - 17 1 FANCC child 1_188134844_CCTATGTATTATCTCTTAC_FANCC 17 >=10 2 CT 0 - Microhomology-mediated f5a349de-328d-11e6-876d-59e398816cf3 17_47448489_AAGA . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 17 47448489 AAG A 720 PASS RP11-1079K10.3 Del downstream 2 2 POLB child 17_47448489_AAGA_POLB 2 2 2 AG 1 AG Repeat-mediated f5aea3b6-3273-11e6-94cc-1ec335cec73b 19_55419254_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 19 55419254 AT A 265 PASS NCR1 Del intronic 1 6 MSH6 child 19_55419254_ATA_MSH6 1 1 1 T 5 T Repeat-mediated f5b08734-3283-11e6-9d58-b7936f39e758 17_12241559_TGCGTCCTTGGCACCACAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 17 12241559 TGCGTCCTTGGCACCACA T 480 PASS - Del - 17 1 EXO1 child 17_12241559_TGCGTCCTTGGCACCACAT_EXO1 17 >=10 2 GC 0 - Microhomology-mediated f5b3000c-3285-11e6-be43-0a6ea2c71c31 10_134973258_CGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 134973258 CG C 540 PASS KNDC1 Del upstream 1 6 MSH6 child 10_134973258_CGC_MSH6 1 1 1 G 5 G Repeat-mediated f5bcba62-3298-11e6-8de1-2d9afaf1a024 7_45125835_GAAG . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 7 45125835 GAA G 720 PASS NACAD Del intronic 2 4 CHK2 child 7_45125835_GAAG_CHK2 2 2 2 AA 2 A Repeat-mediated f5c46abe-3289-11e6-a729-f0a020e7b7a8 9_86444734_CAC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 9 86444734 CA C 287 PASS - Del - 1 8 POLE child 9_86444734_CAC_POLE 1 1 1 A 7 A Repeat-mediated f5c8e39e-3290-11e6-b81f-4ee66f39e758 8_84660345_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 84660345 TA T 600 PASS - Del - 1 8 MSH6 child 8_84660345_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f5d682b6-3271-11e6-8418-1c5942c4520d 3_187028614_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 187028614 CT C 360 PASS - Del - 1 7 MSH6 child 3_187028614_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f5e8288a-328b-11e6-919e-92c36f39e758 2_31383748_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 31383748 GA G 600 PASS - Del - 1 8 MSH6 child 2_31383748_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f5eb9a32-3278-11e6-9e0f-7959cab49462 7_71040673_AAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 71040673 A AT 360 PASS WBSCR17 Ins intronic 1 9 MSH6 child 7_71040673_AAT_MSH6 1 1 - - - - Ins f5fa4606-328f-11e6-b97d-a8b305ad5bc4 20_49954332_GCG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 49954332 GC G 360 PASS - Del - 1 5 MSH6 child 20_49954332_GCG_MSH6 1 1 1 C 4 C Repeat-mediated f5ff739c-329e-11e6-91d0-016425c9da85 7_88102383_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 88102383 GA G 900 PASS - Del - 1 8 MSH6 child 7_88102383_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f5ffa00e-3273-11e6-9c0f-f6f412ae24cf 16_66804604_TAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 16 66804604 TA T 540 PASS CCDC79 Del intronic 1 8 EXO1 child 16_66804604_TAT_EXO1 1 1 1 A 7 A Repeat-mediated f6015680-328f-11e6-b97d-a8b305ad5bc4 20_49970820_CGC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 20 49970820 CG C 660 PASS - Del - 1 5 MSH6 child 20_49970820_CGC_MSH6 1 1 1 G 4 G Repeat-mediated f6028640-3280-11e6-8049-10fc028949d4 1_96105781_ACA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 1 96105781 AC A 660 PASS RP11-286B14.1 Del intronic 1 4 POLM child 1_96105781_ACA_POLM 1 1 1 C 3 C Repeat-mediated f60ccc80-3281-11e6-a980-68393dc9300a 18_48996352_ATA . HAP1_FANCC_27-8 HAP1_parental_75_WT_DNA 18 48996352 AT A 360 PASS RP11-267C16.1 Del downstream 1 9 FANCC child 18_48996352_ATA_FANCC 1 1 1 T 8 T Repeat-mediated f61286ba-3278-11e6-a391-f6d67d6a9fc7 6_101437991_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 101437991 CT C 1080 PASS - Del - 1 9 MSH6 child 6_101437991_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f617de8a-3273-11e6-83bd-65e871d7bc54 15_36703263_GAGAG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 15 36703263 GAGA G 300 PASS - Del - 3 1 NEIL1 child 15_36703263_GAGAG_NEIL1 3 3 2 AG 0 - Microhomology-mediated f637aa14-3285-11e6-99f7-076ea2c71c31 12_129187679_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 129187679 CT C 540 PASS TMEM132C Del intronic 1 8 MSH6 child 12_129187679_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f63a3d64-3272-11e6-b5b8-e0c24a47a305 X_140532397_TTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 140532397 T TC 480 PASS - Ins - 1 1 MSH6 child X_140532397_TTC_MSH6 1 1 - - - - Ins f63ba5cc-3278-11e6-92d2-c259c225ee11 3_193220827_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 3 193220827 AG A 480 PASS ATP13A4 Del intronic 1 8 MSH6 child 3_193220827_AGA_MSH6 1 1 1 G 7 G Repeat-mediated f63bc90a-328f-11e6-99d8-a1aee7d0bdd7 8_18582333_ATAACA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 18582333 ATAAC A 540 PASS PSD3 Del intronic 4 3 FANCC child 8_18582333_ATAACA_FANCC 4 4 4 TAAC 2 TAAC Repeat-mediated f6462aec-328c-11e6-8a9d-4cab4430f757 19_33801428_CAC . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 19 33801428 CA C 480 PASS CTD-2540B15.9 Del downstream 1 8 POLE child 19_33801428_CAC_POLE 1 1 1 A 7 A Repeat-mediated f6476362-329b-11e6-a5cf-205325c9da85 11_133341517_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 133341517 TA T 600 PASS OPCML Del intronic 1 8 MSH6 child 11_133341517_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f652379c-3287-11e6-8404-8e1fbce6aa09 8_73132169_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 73132169 CA C 540 PASS - Del - 1 9 MSH6 child 8_73132169_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f6524e38-328e-11e6-bec1-ca1d0e01a414 X_137677977_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 137677977 AT A 420 PASS - Del - 1 9 MSH6 child X_137677977_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f660cf08-328e-11e6-bec1-ca1d0e01a414 X_137704957_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 137704957 AT A 780 PASS - Del - 1 9 MSH6 child X_137704957_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f662e5c0-3272-11e6-a924-afbd7d6a9fc7 2_8484613_TGTGAAATCAAAT . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 8484613 TGTGAAATCAAA T 480 PASS LINC00299 Del intronic 11 1 EXO1 child 2_8484613_TGTGAAATCAAAT_EXO1 11 >=10 3 GTG 0 - Microhomology-mediated f6635eda-3284-11e6-a1ac-fd6da2c71c31 13_71214907_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 13 71214907 CA C 480 PASS - Del - 1 6 MSH6 child 13_71214907_CAC_MSH6 1 1 1 A 5 A Repeat-mediated f6734d26-3271-11e6-abaf-4642cab49462 6_28813247_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 28813247 CA C 300 PASS - Del - 1 8 MSH6 child 6_28813247_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f67652e6-3276-11e6-a3f9-4821ead19ece 3_102750249_ATA . HAP1_NEIL1_3-5 HAP1_parental_75_WT_DNA 3 102750249 AT A 420 PASS - Del - 1 9 NEIL1 child 3_102750249_ATA_NEIL1 1 1 1 T 8 T Repeat-mediated f67bed64-328a-11e6-8eee-76090e01a414 10_109115315_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 10 109115315 CA C 360 PASS - Del - 1 9 MSH6 child 10_109115315_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f680e7b4-3272-11e6-83ef-69fb06e9a829 18_41630474_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 41630474 CA C 420 PASS - Del - 1 8 MSH6 child 18_41630474_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f68f14bc-329d-11e6-b696-dd6225c9da85 5_53214182_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 53214182 AT A 540 PASS ARL15 Del intronic 1 9 MSH6 child 5_53214182_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f693d7f6-3273-11e6-a42e-2f51e7d0bdd7 1_84496383_TCTGT . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 1 84496383 TCTG T 420 PASS - Del - 3 1 POLB child 1_84496383_TCTGT_POLB 3 3 2 CT 0 - Microhomology-mediated f69d08cc-329a-11e6-ae71-0c5325c9da85 1_53327975_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 53327975 AT A 540 PASS ZYG11A Del intronic 1 9 MSH6 child 1_53327975_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f6a88032-328e-11e6-b81f-4ee66f39e758 8_15463118_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 15463118 CA C 540 PASS TUSC3 Del intronic 1 8 MSH6 child 8_15463118_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f6a912fc-327c-11e6-8cce-e78590e2c2e6 12_57782636_GAG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 12 57782636 GA G 540 PASS R3HDM2 Del intronic 1 8 NUDT1 child 12_57782636_GAG_NUDT1 1 1 1 A 7 A Repeat-mediated f6ac97a8-3252-11e6-b895-bae612ae24cf 2_99616378_ATA . HAP1_POLB_35-9 HAP1_parental_75_WT_DNA 2 99616378 AT A 660 PASS TSGA10 Del intronic 1 8 POLB child 2_99616378_ATA_POLB 1 1 1 T 7 T Repeat-mediated f6bb5770-3289-11e6-b805-77090e01a414 2_46691260_GCG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 46691260 GC G 720 PASS - Del - 1 8 MSH6 child 2_46691260_GCG_MSH6 1 1 1 C 7 C Repeat-mediated f6bf9648-328c-11e6-919e-92c36f39e758 2_97124332_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 97124332 GA G 360 PASS - Del - 1 7 MSH6 child 2_97124332_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f6c1d654-3284-11e6-9daa-026ea2c71c31 14_76752807_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 14 76752807 TA T 840 PASS RP11-516J2.1 Del intronic 1 8 MSH6 child 14_76752807_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f6c38874-3323-11e6-a5dc-75b8cde16804 1_203611387_ATA . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA 1 203611387 AT A 360 PASS ATP2B4 Del intronic 1 8 EXO1 child 1_203611387_ATA_EXO1 1 1 1 T 7 T Repeat-mediated f6d20730-328f-11e6-b17d-bd257a852e0e 15_50473053_TAT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 15 50473053 TA T 420 PASS SLC27A2 Del upstream 1 6 CHK2 child 15_50473053_TAT_CHK2 1 1 1 A 5 A Repeat-mediated f6d69da4-328f-11e6-b52f-4eeb6f39e758 22_32177207_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 32177207 AC A 420 PASS DEPDC5 Del intronic 1 1 MSH6 child 22_32177207_ACA_MSH6 1 1 0 - 0 C None f6e4b8f6-3291-11e6-961b-e659e84777f6 1_184968960_CTC . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 1 184968960 CT C 300 PASS GS1-120K12.4 Del upstream 1 9 CHK2 child 1_184968960_CTC_CHK2 1 1 1 T 8 T Repeat-mediated f6eda914-3270-11e6-8418-1c5942c4520d 3_97176733_ACA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 97176733 AC A 300 PASS EPHA6 Del intronic 1 6 MSH6 child 3_97176733_ACA_MSH6 1 1 1 C 5 C Repeat-mediated f6eff3c0-3254-11e6-9f9d-2c7a7872c165 12_95961108_ACA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 95961108 AC A 350 PASS - Del - 1 1 MSH6 child 12_95961108_ACA_MSH6 1 1 0 - 0 C None f6f338c6-326f-11e6-b89d-b2d6b0dab373 4_31906648_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 31906648 GA G 480 PASS - Del - 1 8 MSH6 child 4_31906648_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f6f70b58-3284-11e6-b093-c9c7b0dab373 2_45030970_GAG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 45030970 GA G 540 PASS - Del - 1 6 MSH6 child 2_45030970_GAG_MSH6 1 1 1 A 5 A Repeat-mediated f6f74cfe-328d-11e6-919e-92c36f39e758 2_168828562_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 168828562 CA C 720 PASS STK39 Del intronic 1 8 MSH6 child 2_168828562_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f6ffcee6-328e-11e6-b8c3-19a5e7d0bdd7 12_116303953_ATA . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 12 116303953 AT A 300 PASS RP11-110L15.2 Del intronic 1 8 FANCC child 12_116303953_ATA_FANCC 1 1 1 T 7 T Repeat-mediated f702ec24-328f-11e6-bbb7-3068694da5d2 7_38858652_TCT . HAP1_POLM_21-8 HAP1_parental_75_WT_DNA 7 38858652 TC T 480 PASS VPS41 Del intronic 1 5 POLM child 7_38858652_TCT_POLM 1 1 1 C 4 C Repeat-mediated f709c0c0-3290-11e6-9d97-efe56f39e758 4_158956856_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 158956856 TA T 420 PASS - Del - 1 6 MSH6 child 4_158956856_TAT_MSH6 1 1 1 A 5 A Repeat-mediated f709d61c-3274-11e6-a862-bc9becf1e924 1_172958935_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 172958935 TA T 261 PASS RP1-15D23.2 Del intronic 1 9 MSH6 child 1_172958935_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f71495b6-3292-11e6-9230-fb250e01a414 3_129932274_GGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 129932274 G GT 660 PASS - Ins - 1 7 MSH6 child 3_129932274_GGT_MSH6 1 1 - - - - Ins f71cbd6c-3324-11e6-9271-15989d7ad846 5_114266638_GTG . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 5 114266638 GT G 420 PASS - Del - 1 5 CHK2 child 5_114266638_GTG_CHK2 1 1 1 T 4 T Repeat-mediated f71df134-326e-11e6-9793-9a8fb0dab373 13_82054679_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 82054679 C CT 420 PASS - Ins - 1 9 MSH6 child 13_82054679_CCT_MSH6 1 1 - - - - Ins f71f25f4-326e-11e6-9003-ae204b47a305 19_57384508_CCA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 19 57384508 C CA 360 PASS - Ins - 1 6 MSH6 child 19_57384508_CCA_MSH6 1 1 - - - - Ins f72983cc-329c-11e6-ae71-0c5325c9da85 1_180682163_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 180682163 TA T 540 PASS XPR1 Del intronic 1 8 MSH6 child 1_180682163_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f73018e6-3291-11e6-8d00-b1b0e7d0bdd7 5_161799932_GAG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 5 161799932 GA G 300 PASS - Del - 1 9 FANCC child 5_161799932_GAG_FANCC 1 1 1 A 8 A Repeat-mediated f73550ee-3323-11e6-be8a-2070ecf1e924 21_33915998_TAT . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 21 33915998 TA T 680 PASS - Del - 1 5 CHK2 child 21_33915998_TAT_CHK2 1 1 1 A 4 A Repeat-mediated f739a166-327f-11e6-8fd7-46dab41afd22 15_99291663_CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 15 99291663 C CAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT 600 PASS IGF1R Ins intronic 52 0 POLM child 15_99291663_CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATGCAGTCCGTGTACACTTT_POLM 52 >=10 - - - - Ins f73a8e76-3286-11e6-afcf-0311bce6aa09 9_131496059_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 131496059 CT C 300 PASS ZER1 Del intronic 1 8 MSH6 child 9_131496059_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f7423d5a-328c-11e6-a80b-87090e01a414 11_96610908_GGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 96610908 G GA 360 PASS - Ins - 1 8 MSH6 child 11_96610908_GGA_MSH6 1 1 - - - - Ins f742a90c-328c-11e6-b8e6-91c36f39e758 11_95519358_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 95519358 CT C 720 PASS FAM76B Del frameshift 1 7 MSH6 child 11_95519358_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f749df3e-328b-11e6-bd84-429305ad5bc4 1_54543803_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 54543803 AT A 600 PASS TCEANC2 Del intronic 1 7 MSH6 child 1_54543803_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f750be5c-329b-11e6-bda6-065325c9da85 13_50758266_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 13 50758266 C CT 341 PASS - Ins - 1 7 MSH6 child 13_50758266_CCT_MSH6 1 1 - - - - Ins f753edd0-3290-11e6-92db-6c56f0f7a29c 1_244243402_GAG . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 1 244243402 GA G 360 PASS RP11-278H7.4 Del intronic 1 8 NEIL1 child 1_244243402_GAG_NEIL1 1 1 1 A 7 A Repeat-mediated f75ce6fa-3273-11e6-b332-88ba7d6a9fc7 15_75443070_AGA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 75443070 AG A 540 PASS - Del - 1 7 MSH6 child 15_75443070_AGA_MSH6 1 1 1 G 6 G Repeat-mediated f765a3a2-3283-11e6-9cd7-7b3e51c54cdd 18_2023886_TTTGCTGGGGTCACAGTCACCTGGTAAGTGAAACTAAATGGATCAACACCATTCATGTATATTGGGTGAGGAACTAGAAAGGAAGGAATAAGCCCTTCATATTCAGAGACCATTCAAATCAGGAAAAATCTATGCTGATAAAAATACAGTTCCTTTACTTGGATGTGGTAAATCAAATGAATAATTTGAAATCAAAGACAAGAGATGCCATGTGTCTAACTGCTTACAAAACTACCATTCCCAGTAACTGAAGAAGTTTTTCATTTGCACCTTCTCCTTTTGTTCTTTGACAATACCTCTGTCATTTACATATATGGAAACCAAATAGCCCAGCTTATGCAAAGCTCCATTCACTTACCCAAAATCAGGAGGCCACTTGAGGCTGTTGTCCACATGGAGCTTTTGGTCTAATGATATGGTTCATCACAAACTACCACAAATTTAGCCACTTAAAACAACACCCATTTATTAGCTCTCAATTCTGCAGGCAGAAGTTTGGGTGGGCTTGGTTGGGTTCTATACTCAAGATATCACAGCACCAAAATCAAGGTGTTAGATGAGTTCTTTCTTGAAGACTTTAGAATTTAGTTCTTTGCAGTTGTAAGACTAAGGTCTCTGTCTACTTGCAGGCTGTTGGTTGGGAGTTATTCACAGCTCCTAGGCCCTCTAAGTCTTTGTATGTGGACCCATCTTTCTTCAAGCCAACAACAGTGAGTGAAATCCTTGTCATGCTTCGAATCCTTCTGATTTCCCTTCTGCCTTCCTCCT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 18 2023886 TTTGCTGGGGTCACAGTCACCTGGTAAGTGAAACTAAATGGATCAACACCATTCATGTATATTGGGTGAGGAACTAGAAAGGAAGGAATAAGCCCTTCATATTCAGAGACCATTCAAATCAGGAAAAATCTATGCTGATAAAAATACAGTTCCTTTACTTGGATGTGGTAAATCAAATGAATAATTTGAAATCAAAGACAAGAGATGCCATGTGTCTAACTGCTTACAAAACTACCATTCCCAGTAACTGAAGAAGTTTTTCATTTGCACCTTCTCCTTTTGTTCTTTGACAATACCTCTGTCATTTACATATATGGAAACCAAATAGCCCAGCTTATGCAAAGCTCCATTCACTTACCCAAAATCAGGAGGCCACTTGAGGCTGTTGTCCACATGGAGCTTTTGGTCTAATGATATGGTTCATCACAAACTACCACAAATTTAGCCACTTAAAACAACACCCATTTATTAGCTCTCAATTCTGCAGGCAGAAGTTTGGGTGGGCTTGGTTGGGTTCTATACTCAAGATATCACAGCACCAAAATCAAGGTGTTAGATGAGTTCTTTCTTGAAGACTTTAGAATTTAGTTCTTTGCAGTTGTAAGACTAAGGTCTCTGTCTACTTGCAGGCTGTTGGTTGGGAGTTATTCACAGCTCCTAGGCCCTCTAAGTCTTTGTATGTGGACCCATCTTTCTTCAAGCCAACAACAGTGAGTGAAATCCTTGTCATGCTTCGAATCCTTCTGATTTCCCTTCTGCCTTCCTCC T 1200 PASS RP11-161I6.2 Del intronic 766 1 EXO1 child 18_2023886_TTTGCTGGGGTCACAGTCACCTGGTAAGTGAAACTAAATGGATCAACACCATTCATGTATATTGGGTGAGGAACTAGAAAGGAAGGAATAAGCCCTTCATATTCAGAGACCATTCAAATCAGGAAAAATCTATGCTGATAAAAATACAGTTCCTTTACTTGGATGTGGTAAATCAAATGAATAATTTGAAATCAAAGACAAGAGATGCCATGTGTCTAACTGCTTACAAAACTACCATTCCCAGTAACTGAAGAAGTTTTTCATTTGCACCTTCTCCTTTTGTTCTTTGACAATACCTCTGTCATTTACATATATGGAAACCAAATAGCCCAGCTTATGCAAAGCTCCATTCACTTACCCAAAATCAGGAGGCCACTTGAGGCTGTTGTCCACATGGAGCTTTTGGTCTAATGATATGGTTCATCACAAACTACCACAAATTTAGCCACTTAAAACAACACCCATTTATTAGCTCTCAATTCTGCAGGCAGAAGTTTGGGTGGGCTTGGTTGGGTTCTATACTCAAGATATCACAGCACCAAAATCAAGGTGTTAGATGAGTTCTTTCTTGAAGACTTTAGAATTTAGTTCTTTGCAGTTGTAAGACTAAGGTCTCTGTCTACTTGCAGGCTGTTGGTTGGGAGTTATTCACAGCTCCTAGGCCCTCTAAGTCTTTGTATGTGGACCCATCTTTCTTCAAGCCAACAACAGTGAGTGAAATCCTTGTCATGCTTCGAATCCTTCTGATTTCCCTTCTGCCTTCCTCCT_EXO1 766 >=10 4 TTGC 0 - Microhomology-mediated f768930a-328d-11e6-881b-66a4e7d0bdd7 22_48955494_GCG . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 22 48955494 GC G 300 PASS FAM19A5 Del intronic 1 2 POLM child 22_48955494_GCG_POLM 1 1 1 C 1 C Repeat-mediated f76c0882-326f-11e6-b08b-a578ecf1e924 11_72898082_CCTAC . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 11 72898082 CCTA C 720 PASS - Del - 3 1 NUDT1 child 11_72898082_CCTAC_NUDT1 3 3 2 CT 0 - Microhomology-mediated f76fa486-3276-11e6-83cd-a472a178171f 4_138381838_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 138381838 GT G 420 PASS - Del - 1 8 MSH6 child 4_138381838_GTG_MSH6 1 1 1 T 7 T Repeat-mediated f77ab066-3289-11e6-821d-8c090e01a414 13_59213537_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 13 59213537 CA C 360 PASS - Del - 1 7 MSH6 child 13_59213537_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f78451a6-326c-11e6-92dd-fda8977b3f23 10_34919917_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 34919917 AT A 360 PASS PARD3 Del intronic 1 7 MSH6 child 10_34919917_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f7849afc-3290-11e6-9401-04ed6f39e758 3_65259274_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 65259274 TA T 420 PASS - Del - 1 9 MSH6 child 3_65259274_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f78e1402-3253-11e6-b4d0-327a7872c165 11_29298425_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 29298425 GA G 480 PASS - Del - 1 9 MSH6 child 11_29298425_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f7926e9a-3270-11e6-8a0d-fc4238e8a824 1_176691020_CTC . HAP1_POLM_21-11 HAP1_parental_75_WT_DNA 1 176691020 CT C 480 PASS PAPPA2 Del intronic 1 7 POLM child 1_176691020_CTC_POLM 1 1 1 T 6 T Repeat-mediated f79409c0-328f-11e6-9230-fb250e01a414 3_135149415_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 3 135149415 TA T 360 PASS RP11-657O9.1 Del intronic 1 9 MSH6 child 3_135149415_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f79b6564-329c-11e6-9048-b49fcc638e3d 17_61337234_AAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 17 61337234 A AT 720 PASS TANC2 Ins intronic 1 4 MSH6 child 17_61337234_AAT_MSH6 1 1 - - - - Ins f79cf32e-3275-11e6-a3dd-600b4ec77248 2_225233874_GAG . HAP1_EXO1_40-12 HAP1_parental_75_WT_DNA 2 225233874 GA G 600 PASS - Del - 1 6 EXO1 child 2_225233874_GAG_EXO1 1 1 1 A 5 A Repeat-mediated f79cff98-328b-11e6-8fd1-f2ac12ae24cf X_20408578_GTG . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA X 20408578 GT G 720 PASS - Del - 1 9 CHK2 child X_20408578_GTG_CHK2 1 1 1 T 8 T Repeat-mediated f7a7d96e-3276-11e6-998e-ba48fa52e078 8_95022714_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 8 95022714 CT C 480 PASS - Del - 1 8 MSH6 child 8_95022714_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f7a86422-3273-11e6-a862-bc9becf1e924 1_101665304_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 101665304 CT C 540 PASS - Del - 1 4 MSH6 child 1_101665304_CTC_MSH6 1 1 1 T 3 T Repeat-mediated f7aa60d8-3291-11e6-9918-e08630158702 10_38196443_GTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 10 38196443 GT G 360 PASS - Del - 1 7 NUDT1 child 10_38196443_GTG_NUDT1 1 1 1 T 6 T Repeat-mediated f7aaa346-328b-11e6-9c89-8d090e01a414 1_159240663_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 1 159240663 GA G 720 PASS - Del - 1 9 MSH6 child 1_159240663_GAG_MSH6 1 1 1 A 8 A Repeat-mediated f7b0e1f8-328f-11e6-99d8-a1aee7d0bdd7 8_18941867_CTCCTCAGCACAGTCCTTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 8 18941867 CTCCTCAGCACAGTCCTT C 360 PASS RP11-1080G15.1 Del downstream 17 1 FANCC child 8_18941867_CTCCTCAGCACAGTCCTTC_FANCC 17 >=10 3 TCC 0 - Microhomology-mediated f7b3ff22-329a-11e6-8d0f-075325c9da85 14_82062397_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 82062397 CT C 480 PASS - Del - 1 9 MSH6 child 14_82062397_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f7bbd77a-3285-11e6-be43-0a6ea2c71c31 10_135408234_CAATAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 135408234 CAATA C 480 PASS - Del - 4 1 MSH6 child 10_135408234_CAATAC_MSH6 4 4 0 - 0 - None f7be6d12-3287-11e6-a8ac-a28ea2c71c31 3_33357322_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 33357322 CT C 480 PASS FBXL2 Del intronic 1 9 MSH6 child 3_33357322_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f7c5eb80-3289-11e6-a32d-75090e01a414 14_63859688_AGA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 14 63859688 AG A 300 PASS PPP2R5E Del intronic 1 3 MSH6 child 14_63859688_AGA_MSH6 1 1 1 G 2 G Repeat-mediated f7d4b2e8-3255-11e6-a304-347a7872c165 1_164874708_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 164874708 AT A 420 PASS - Del - 1 9 MSH6 child 1_164874708_ATA_MSH6 1 1 1 T 8 T Repeat-mediated f7d5e9a6-329b-11e6-a0ea-135325c9da85 15_84302404_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 15 84302404 TG T 540 PASS - Del - 1 3 MSH6 child 15_84302404_TGT_MSH6 1 1 1 G 2 G Repeat-mediated f7dc5ee0-3290-11e6-a081-1bb7a178171f X_145055077_CTAATAAAAATC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA X 145055077 CTAATAAAAAT C 420 PASS - Del - 10 1 POLE child X_145055077_CTAATAAAAATC_POLE 10 >=10 0 - 0 - None f7e3cc22-3289-11e6-a7cf-80090e01a414 15_53104683_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 53104683 AT A 300 PASS - Del - 1 1 MSH6 child 15_53104683_ATA_MSH6 1 1 0 - 0 T None f7ee8c46-3295-11e6-b38a-97f8d8b4fa2c 4_114551837_CCAC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 4 114551837 CCA C 420 PASS CAMK2D Del intronic 2 2 NUDT1 child 4_114551837_CCAC_NUDT1 2 2 2 CA 1 CA Repeat-mediated f7fa7cd4-3274-11e6-a924-afbd7d6a9fc7 2_145980484_ATGGGGTCTA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 2 145980484 ATGGGGTCT A 600 PASS - Del - 8 1 EXO1 child 2_145980484_ATGGGGTCTA_EXO1 8 8 0 - 0 - None f80ba9a2-3272-11e6-a862-bc9becf1e924 1_35523447_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 1 35523447 CA C 420 PASS - Del - 1 6 MSH6 child 1_35523447_CAC_MSH6 1 1 1 A 5 A Repeat-mediated f81907c8-3272-11e6-bfb2-2749c225ee11 12_45041684_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 12 45041684 CA C 480 PASS NELL2 Del intronic 1 7 MSH6 child 12_45041684_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f81b23b0-327b-11e6-a9e7-37e798816cf3 14_85843123_ATATA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 14 85843123 ATAT A 660 PASS CTD-2128A3.2 Del intronic 3 1 POLM child 14_85843123_ATATA_POLM 3 3 1 T 0 - Microhomology-mediated f81d71ce-328f-11e6-bd11-15ea6f39e758 21_37976191_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 21 37976191 AT A 660 PASS - Del - 1 8 MSH6 child 21_37976191_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f820def8-3272-11e6-a390-fc104530f757 1_151097281_ATA . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 1 151097281 AT A 426 PASS GABPB2 Del 3prime_UTR_variant 1 8 FANCC child 1_151097281_ATA_FANCC 1 1 1 T 7 T Repeat-mediated f82a266c-329e-11e6-91d0-016425c9da85 7_88912703_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 88912703 TA T 720 PASS ZNF804B Del intronic 1 7 MSH6 child 7_88912703_TAT_MSH6 1 1 1 A 6 A Repeat-mediated f83a6afa-3257-11e6-a304-347a7872c165 1_41003830_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 41003830 A AT 360 PASS ZNF684 Ins intronic 1 8 MSH6 child 1_41003830_AAT_MSH6 1 1 - - - - Ins f83f92ae-3276-11e6-8c34-46e27872c165 5_112848321_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 112848321 CA C 720 PASS YTHDC2 Del upstream 1 9 MSH6 child 5_112848321_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f8429de8-3256-11e6-acc5-308412ae24cf 5_41319214_TATAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 41319214 TATA T 480 PASS PLCXD3 Del intronic 3 2 MSH6 child 5_41319214_TATAT_MSH6 3 3 3 ATA 1 ATA Repeat-mediated f84dd2a8-3274-11e6-9970-2347694da5d2 9_84169561_TCTCT . HAP1_NUDT1_41-10 HAP1_parental_75_WT_DNA 9 84169561 TCTC T 300 PASS - Del - 3 1 NUDT1 child 9_84169561_TCTCT_NUDT1 3 3 0 - 0 - None f84f5afa-3275-11e6-83cd-a472a178171f 4_64304566_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 64304566 TA T 660 PASS - Del - 1 7 MSH6 child 4_64304566_TAT_MSH6 1 1 1 A 6 A Repeat-mediated f85b3b28-326f-11e6-a073-e3d0d7fd0a58 13_98260217_TAT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 13 98260217 TA T 480 PASS - Del - 1 6 NUDT1 child 13_98260217_TAT_NUDT1 1 1 1 A 5 A Repeat-mediated f8611052-3288-11e6-a928-04c835cec73b 3_112857237_GTG . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 3 112857237 GT G 720 PASS RP11-572M11.3 Del downstream 1 7 POLE child 3_112857237_GTG_POLE 1 1 1 T 6 T Repeat-mediated f8622166-3276-11e6-ab97-84f471d7bc54 6_5397104_TACT . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 6 5397104 TAC T 480 PASS FARS2 Del intronic 2 3 NEIL1 child 6_5397104_TACT_NEIL1 2 2 2 AC 2 AC Repeat-mediated f86e4fca-329b-11e6-ae71-0c5325c9da85 1_115991100_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 115991100 CA C 600 PASS - Del - 1 6 MSH6 child 1_115991100_CAC_MSH6 1 1 1 A 5 A Repeat-mediated f875181c-3275-11e6-83cd-a472a178171f 4_64320477_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 64320477 TA T 300 PASS - Del - 1 8 MSH6 child 4_64320477_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f87777aa-3299-11e6-a5cf-205325c9da85 11_8818495_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 8818495 TA T 840 PASS ST5 Del intronic 1 8 MSH6 child 11_8818495_TAT_MSH6 1 1 1 A 7 A Repeat-mediated f8794b10-3286-11e6-8b67-086ea2c71c31 1_229893978_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 1 229893978 CA C 600 PASS - Del - 1 8 MSH6 child 1_229893978_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f8796c92-328d-11e6-b3cd-1ca5e7d0bdd7 17_27317106_CAC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 17 27317106 CA C 360 PASS SEZ6 Del intronic 1 8 FANCC child 17_27317106_CAC_FANCC 1 1 1 A 7 A Repeat-mediated f8802470-3291-11e6-8d18-13cc0d01a414 20_17968558_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 20 17968558 TG T 300 PASS MGME1 Del intronic 1 7 MSH6 child 20_17968558_TGT_MSH6 1 1 1 G 6 G Repeat-mediated f88396f0-3287-11e6-baf1-58044530f757 3_51514859_GTG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 3 51514859 GT G 600 PASS VPRBP Del intronic 1 8 EXO1 child 3_51514859_GTG_EXO1 1 1 1 T 7 T Repeat-mediated f8850be6-327f-11e6-87e4-1c233dc9300a 2_181355699_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 2 181355699 CT C 540 PASS - Del - 1 5 NEIL1 child 2_181355699_CTC_NEIL1 1 1 1 T 4 T Repeat-mediated f8867b4a-3273-11e6-abaf-4642cab49462 6_162822255_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 162822255 AT A 300 PASS PARK2 Del intronic 1 1 MSH6 child 6_162822255_ATA_MSH6 1 1 0 - 0 T None f88840a8-326c-11e6-9d68-ac9acab49462 15_38728597_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 15 38728597 AT A 480 PASS - Del - 1 8 MSH6 child 15_38728597_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f88e3fa2-328b-11e6-a653-2591e7d0bdd7 1_161535933_ACCTCGTGATCCGCCCGCCTCGGA . HAP1_POLM-21-10 HAP1_parental_75_WT_DNA 1 161535933 ACCTCGTGATCCGCCCGCCTCGG A 447 PASS FCGR3A Del intronic 22 1 POLM child 1_161535933_ACCTCGTGATCCGCCCGCCTCGGA_POLM 22 >=10 4 CCTC 0 - Microhomology-mediated f8a3b356-328f-11e6-81a8-bb257a852e0e 16_30843051_GCAG . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 16 30843051 GCA G 480 PASS BCL7C Del downstream 2 2 CHK2 child 16_30843051_GCAG_CHK2 2 2 2 CA 1 CA Repeat-mediated f8a63792-329a-11e6-b74d-b59fcc638e3d 18_73592799_TGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 73592799 TG T 900 PASS - Del - 1 3 MSH6 child 18_73592799_TGT_MSH6 1 1 1 G 2 G Repeat-mediated f8a8b70a-32a0-11e6-aea7-956725c9da85 3_168978811_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 168978811 CT C 300 PASS MECOM Del intronic 1 8 MSH6 child 3_168978811_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f8ac6fd4-3328-11e6-9673-d7281daa6045 X_45141898_GTTGTG . HAP1_EXO1_40-3 HAP1_parental_75_WT_DNA X 45141898 GTTGT G 540 PASS - Del - 4 4 EXO1 child X_45141898_GTTGTG_EXO1 4 4 4 TTGT 3 TTGT Repeat-mediated f8acc76a-3286-11e6-a284-4b89a2c71c31 4_39820902_CTTCTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 4 39820902 CTTCT C 300 PASS PDS5A Del downstream 4 1 MSH6 child 4_39820902_CTTCTC_MSH6 4 4 2 TT 0 - Microhomology-mediated f8acca80-3272-11e6-803d-c550e7d0bdd7 11_13749287_ATA . HAP1_EXO1_40-10 HAP1_parental_75_WT_DNA 11 13749287 AT A 360 PASS FAR1 Del intronic 1 7 EXO1 child 11_13749287_ATA_EXO1 1 1 1 T 6 T Repeat-mediated f8affeb2-329f-11e6-b696-dd6225c9da85 5_155208559_CCTCCCTCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 155208559 CCTCC CTCT 720 PASS - Complex - 4 0 MSH6 child 5_155208559_CCTCCCTCT_MSH6 1 1 - - - - Complex f8b2c5ac-326d-11e6-b306-b5204b47a305 2_120325532_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 120325532 CT C 540 PASS PCDP1 Del intronic 1 7 MSH6 child 2_120325532_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f8b54f28-329c-11e6-aca6-b39fcc638e3d 2_205954540_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 205954540 GT G 360 PASS PARD3B Del intronic 1 7 MSH6 child 2_205954540_GTG_MSH6 1 1 1 T 6 T Repeat-mediated f8c406f2-3289-11e6-bbaf-7c090e01a414 19_28575560_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 19 28575560 GA G 582 PASS CTD-2043I16.1 Del intronic 1 8 MSH6 child 19_28575560_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f8ca8b30-328e-11e6-919e-92c36f39e758 2_231355312_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 231355312 AT A 420 PASS SP100 Del intronic 1 6 MSH6 child 2_231355312_ATA_MSH6 1 1 1 T 5 T Repeat-mediated f8cfe898-32a0-11e6-aea7-956725c9da85 3_169008056_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 169008056 GA G 780 PASS MECOM Del intronic 1 7 MSH6 child 3_169008056_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f8d7b964-3283-11e6-888b-2d6e0d016689 18_27555064_GGAAG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 18 27555064 GGAA G 480 PASS - Del - 3 2 EXO1 child 18_27555064_GGAAG_EXO1 3 3 3 GAA 1 GAA Repeat-mediated f8da83c0-328c-11e6-b6a6-1f1e0e01a414 4_32575568_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 32575568 TC T 480 PASS - Del - 1 2 MSH6 child 4_32575568_TCT_MSH6 1 1 1 C 1 C Repeat-mediated f8dd3596-3275-11e6-a71d-236235cec73b X_54443712_TAT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA X 54443712 TA T 360 PASS - Del - 1 7 MSH6 child X_54443712_TAT_MSH6 1 1 1 A 6 A Repeat-mediated f8e026c2-328c-11e6-92c7-35ab4430f757 15_50946093_CATC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 15 50946093 CAT C 420 PASS TRPM7 Del intronic 2 1 POLE child 15_50946093_CATC_POLE 2 2 1 A 0 - Microhomology-mediated f8ff6900-328d-11e6-a278-48230e01a414 21_37578510_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 21 37578510 AT A 420 PASS DOPEY2 Del intronic 1 8 MSH6 child 21_37578510_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f9063ef0-3289-11e6-8459-82090e01a414 12_43158606_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 43158606 AT A 660 PASS - Del - 1 8 MSH6 child 12_43158606_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f906f706-326f-11e6-9fba-41ebd8b4fa2c 11_128005670_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 128005670 CA C 540 PASS - Del - 1 8 MSH6 child 11_128005670_CAC_MSH6 1 1 1 A 7 A Repeat-mediated f92187ac-32a0-11e6-aea7-956725c9da85 3_169096960_ACA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 169096960 AC A 300 PASS MECOM Del intronic 1 3 MSH6 child 3_169096960_ACA_MSH6 1 1 1 C 2 C Repeat-mediated f9280696-329a-11e6-a5cf-205325c9da85 11_69450302_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 69450302 AG A 480 PASS - Del - 1 3 MSH6 child 11_69450302_AGA_MSH6 1 1 1 G 2 G Repeat-mediated f92e2c8e-329e-11e6-91d0-016425c9da85 7_89341962_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 89341962 AT A 900 PASS - Del - 1 7 MSH6 child 7_89341962_ATA_MSH6 1 1 1 T 6 T Repeat-mediated f9314e22-328b-11e6-ac7a-a3c36f39e758 18_30854197_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 18 30854197 CA C 540 PASS CCDC178 Del intronic 1 9 MSH6 child 18_30854197_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f934e4e0-3274-11e6-b89d-b2d6b0dab373 4_179233291_TTA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 179233291 T TA 300 PASS - Ins - 1 7 MSH6 child 4_179233291_TTA_MSH6 1 1 - - - - Ins f938670c-328b-11e6-88c1-95c36f39e758 14_47221618_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 47221618 CT C 300 PASS - Del - 1 5 MSH6 child 14_47221618_CTC_MSH6 1 1 1 T 4 T Repeat-mediated f93f9790-3284-11e6-821e-69f1bbe6aa09 16_53202508_CAC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 53202508 CA C 720 PASS CHD9 Del intronic 1 7 MSH6 child 16_53202508_CAC_MSH6 1 1 1 A 6 A Repeat-mediated f945e15c-328b-11e6-ae4c-6bbfcc638e3d 7_30401388_CTGTC . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 7 30401388 CTGT C 480 PASS ZNRF2 Del intronic 3 1 NUDT1 child 7_30401388_CTGTC_NUDT1 3 3 2 TG 0 - Microhomology-mediated f94f108e-3271-11e6-b89d-b2d6b0dab373 4_166177471_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 166177471 CT C 300 PASS KLHL2 Del intronic 1 8 MSH6 child 4_166177471_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f951315c-326c-11e6-b306-b5204b47a305 2_33329681_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 33329681 CT C 300 PASS LTBP1 Del intronic 1 5 MSH6 child 2_33329681_CTC_MSH6 1 1 1 T 4 T Repeat-mediated f95b1dc4-329a-11e6-a5cf-205325c9da85 11_69491153_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 69491153 GA G 600 PASS ORAOV1 Del upstream 1 7 MSH6 child 11_69491153_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f9614d56-3296-11e6-8fa8-1766a178171f 4_119332687_ATA . HAP1_NEIL1_3-8 HAP1_parental_75_WT_DNA 4 119332687 AT A 420 PASS - Del - 1 8 NEIL1 child 4_119332687_ATA_NEIL1 1 1 1 T 7 T Repeat-mediated f962e96a-3253-11e6-bc65-c9667872c165 13_49257628_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 13 49257628 CT C 600 PASS - Del - 1 8 MSH6 child 13_49257628_CTC_MSH6 1 1 1 T 7 T Repeat-mediated f973fe6a-3322-11e6-8a20-9a0d75253f64 9_31246642_ATA . HAP1_CHK2_56-10 HAP1_parental_75_WT_DNA 9 31246642 AT A 300 PASS - Del - 1 9 CHK2 child 9_31246642_ATA_CHK2 1 1 1 T 8 T Repeat-mediated f9742160-3278-11e6-9e0f-7959cab49462 7_71769483_TTA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 71769483 T TA 480 PASS CALN1 Ins intronic 1 7 MSH6 child 7_71769483_TTA_MSH6 1 1 - - - - Ins f97c09d0-3281-11e6-86cf-8f288e4678dd 10_126806369_AAACA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 126806369 AAAC A 300 PASS CTBP2 Del intronic 3 3 FANCC child 10_126806369_AAACA_FANCC 3 3 3 AAC 2 AAC Repeat-mediated f98168b8-326c-11e6-9f48-94df41c4520d 12_29818083_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 29818083 CA C 1020 PASS TMTC1 Del intronic 1 9 MSH6 child 12_29818083_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f9947854-3299-11e6-aca6-b39fcc638e3d 2_13176924_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 13176924 GA G 360 PASS - Del - 1 8 MSH6 child 2_13176924_GAG_MSH6 1 1 1 A 7 A Repeat-mediated f9983814-329d-11e6-bc2c-2a5e25c9da85 4_68415567_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 68415567 TA T 540 PASS CENPC Del upstream 1 9 MSH6 child 4_68415567_TAT_MSH6 1 1 1 A 8 A Repeat-mediated f99b6de6-328d-11e6-bb1e-70e16f39e758 X_11028125_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 11028125 AC A 300 PASS RP11-120D5.1 Del intronic 1 7 MSH6 child X_11028125_ACA_MSH6 1 1 1 C 6 C Repeat-mediated f9b241e2-3256-11e6-885f-d1947872c165 4_57435962_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 57435962 CA C 480 PASS THEGL Del intronic 1 9 MSH6 child 4_57435962_CAC_MSH6 1 1 1 A 8 A Repeat-mediated f9bc9688-328d-11e6-bb1e-70e16f39e758 X_11241283_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 11241283 TA T 947 PASS ARHGAP6 Del intronic 1 5 MSH6 child X_11241283_TAT_MSH6 1 1 1 A 4 A Repeat-mediated f9c90e3c-32a0-11e6-aea7-956725c9da85 3_169285631_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 169285631 GA G 480 PASS MECOM Del intronic 1 7 MSH6 child 3_169285631_GAG_MSH6 1 1 1 A 6 A Repeat-mediated f9c9b56c-3273-11e6-a5d0-4fd14a47a305 2_139063375_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 139063375 CT C 720 PASS - Del - 1 9 MSH6 child 2_139063375_CTC_MSH6 1 1 1 T 8 T Repeat-mediated f9cfd874-325b-11e6-8cd9-139b7872c165 3_128356093_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 128356093 A AT 300 PASS RPN1 Ins intronic 1 6 MSH6 child 3_128356093_AAT_MSH6 1 1 - - - - Ins f9d1e60c-328b-11e6-8106-81c36f39e758 19_19434780_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 19434780 GT G 780 PASS MAU2 Del intronic 1 8 MSH6 child 19_19434780_GTG_MSH6 1 1 1 T 7 T Repeat-mediated f9d31e4e-3283-11e6-9d58-b7936f39e758 17_13134559_CGGGATC . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 17 13134559 CGGGAT C 660 PASS - Del - 5 1 EXO1 child 17_13134559_CGGGATC_EXO1 5 5 2 GG 0 - Microhomology-mediated f9d875e0-3285-11e6-821e-69f1bbe6aa09 16_50602704_GGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 16 50602704 G GC 480 PASS NKD1 Ins intronic 1 6 MSH6 child 16_50602704_GGC_MSH6 1 1 - - - - Ins f9d979c2-32a3-11e6-a04f-c66a25c9da85 6_120708658_CCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 120708658 C CT 720 PASS - Ins - 1 7 MSH6 child 6_120708658_CCT_MSH6 1 1 - - - - Ins f9e673ec-3272-11e6-9e18-3a69671699ea 10_38151264_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 38151264 AT A 720 PASS ZNF248 Del upstream 1 8 MSH6 child 10_38151264_ATA_MSH6 1 1 1 T 7 T Repeat-mediated f9e81f04-328f-11e6-b77c-51e2977b3f23 4_93351378_CAGAGGTTGAGGTCTTAGATTTAATCCTTCAATCCATTTTGGTTTTATTTTTGTATGTGGTGAGAGATAGGGGTAGTTTCATTTTTCTGCATATGAATATCTAGTTTTCCCAGCACCATTTATTGAC . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 4 93351378 CAGAGGTTGAGGTCTTAGATTTAATCCTTCAATCCATTTTGGTTTTATTTTTGTATGTGGTGAGAGATAGGGGTAGTTTCATTTTTCTGCATATGAATATCTAGTTTTCCCAGCACCATTTATTGA C 1020 PASS GRID2 Del intronic 125 1 NEIL1 child 4_93351378_CAGAGGTTGAGGTCTTAGATTTAATCCTTCAATCCATTTTGGTTTTATTTTTGTATGTGGTGAGAGATAGGGGTAGTTTCATTTTTCTGCATATGAATATCTAGTTTTCCCAGCACCATTTATTGAC_NEIL1 125 >=10 4 AGAG 0 - Microhomology-mediated f9f01454-328d-11e6-bf99-1e6bfc77b11e 11_116397333_ACA . HAP1_POLE_34-8 HAP1_parental_75_WT_DNA 11 116397333 AC A 420 PASS - Del - 1 6 POLE child 11_116397333_ACA_POLE 1 1 1 C 5 C Repeat-mediated f9f04108-328e-11e6-bfa2-581f0e01a414 7_136138667_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 136138667 CT C 480 PASS - Del - 1 7 MSH6 child 7_136138667_CTC_MSH6 1 1 1 T 6 T Repeat-mediated f9fc5968-328c-11e6-8952-77c36f39e758 10_93215886_TGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 93215886 TG T 974 PASS HECTD2 Del intronic 1 7 MSH6 child 10_93215886_TGT_MSH6 1 1 1 G 6 G Repeat-mediated f9feb782-3299-11e6-aca6-b39fcc638e3d 2_13509925_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 2 13509925 CT C 660 PASS - Del - 1 9 MSH6 child 2_13509925_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fa06c7e2-3276-11e6-83cd-a472a178171f 4_139140008_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 4 139140008 GA G 360 PASS SLC7A11 Del intronic 1 9 MSH6 child 4_139140008_GAG_MSH6 1 1 1 A 8 A Repeat-mediated fa0711e2-329a-11e6-ae71-0c5325c9da85 1_54220990_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 54220990 GA G 900 PASS - Del - 1 8 MSH6 child 1_54220990_GAG_MSH6 1 1 1 A 7 A Repeat-mediated fa0acbe4-3276-11e6-a2b7-2d8b671699ea 21_37525566_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 21 37525566 CT C 360 PASS DOPEY2 Del upstream 1 8 MSH6 child 21_37525566_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fa1a9d40-328e-11e6-8f31-bfe16f39e758 9_91778660_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 9 91778660 TA T 491 PASS SHC3 Del intronic 1 7 MSH6 child 9_91778660_TAT_MSH6 1 1 1 A 6 A Repeat-mediated fa1b75fc-326c-11e6-adc2-b7204b47a305 18_31748410_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 31748410 GA G 300 PASS NOL4 Del intronic 1 6 MSH6 child 18_31748410_GAG_MSH6 1 1 1 A 5 A Repeat-mediated fa1c9eb4-3299-11e6-bbf7-b00798ba1142 3_15250525_CTC . HAP1_CHK2_56-11 HAP1_parental_75_WT_DNA 3 15250525 CT C 300 PASS CAPN7 Del intronic 1 9 CHK2 child 3_15250525_CTC_CHK2 1 1 1 T 8 T Repeat-mediated fa203bf8-3345-11e6-b5ef-938f38e8a824 13_59668067_ACCTGTATGCTTTAAATCTATCTGTGGTATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 13 59668067 ACCTGTATGCTTTAAATCTATCTGTGGTAT A 480 PASS - Del - 29 1 FANCC child 13_59668067_ACCTGTATGCTTTAAATCTATCTGTGGTATA_FANCC 29 >=10 1 C 0 - Microhomology-mediated fa21fcfe-3287-11e6-a8ac-a28ea2c71c31 3_34430022_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 34430022 GT G 900 PASS AC018359.1 Del intronic 1 9 MSH6 child 3_34430022_GTG_MSH6 1 1 1 T 8 T Repeat-mediated fa2dc568-3320-11e6-842f-4d64694da5d2 19_11199076_CTC . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 19 11199076 CT C 420 PASS LDLR Del upstream 1 9 EXO1 child 19_11199076_CTC_EXO1 1 1 1 T 8 T Repeat-mediated fa36c988-328f-11e6-9d24-ade56f39e758 7_92469169_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 7 92469169 GA G 420 PASS CDK6 Del upstream 1 6 MSH6 child 7_92469169_GAG_MSH6 1 1 1 A 5 A Repeat-mediated fa388538-326d-11e6-bc62-6d4742c4520d 16_7747164_TTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 7747164 T TG 360 PASS RBFOX1 Ins intronic 1 6 MSH6 child 16_7747164_TTG_MSH6 1 1 - - - - Ins fa3ea214-3273-11e6-98e1-30573cfdbd24 9_80915160_ATA . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 9 80915160 AT A 780 PASS PSAT1 Del intronic 1 7 MSH6 parent 9_80915160_ATA_MSH6 1 1 1 T 6 T Repeat-mediated fa529438-3299-11e6-b74d-b59fcc638e3d 18_8872576_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 18 8872576 AT A 360 PASS - Del - 1 7 MSH6 child 18_8872576_ATA_MSH6 1 1 1 T 6 T Repeat-mediated fa58d04a-3290-11e6-b81f-4ee66f39e758 8_86154759_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 8 86154759 GA G 300 PASS CA13 Del upstream 1 7 MSH6 child 8_86154759_GAG_MSH6 1 1 1 A 6 A Repeat-mediated fa5a9dfc-3273-11e6-9e18-3a69671699ea 10_106034257_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 106034257 GA G 480 PASS GSTO2 Del upstream 1 9 MSH6 child 10_106034257_GAG_MSH6 1 1 1 A 8 A Repeat-mediated fa683c68-3274-11e6-ab69-1c1607e9a829 9_23622542_CAC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 23622542 CA C 300 PASS - Del - 1 7 MSH6 child 9_23622542_CAC_MSH6 1 1 1 A 6 A Repeat-mediated fa7022f6-329d-11e6-91d0-016425c9da85 7_30772106_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 30772106 AT A 900 PASS - Del - 1 9 MSH6 child 7_30772106_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fa76efc4-329c-11e6-94ca-0aaecc638e3d X_5831283_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 5831283 AT A 360 PASS NLGN4X Del intronic 1 5 MSH6 child X_5831283_ATA_MSH6 1 1 1 T 4 T Repeat-mediated fa7ea78c-3292-11e6-9458-5f42ead19ece 2_102156422_GTG . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 2 102156422 GT G 300 PASS - Del - 1 8 NUDT1 child 2_102156422_GTG_NUDT1 1 1 1 T 7 T Repeat-mediated fa7ec3b6-3256-11e6-a39a-dc8512ae24cf 8_18034238_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 8 18034238 AT A 420 PASS NAT1 Del intronic 1 8 MSH6 child 8_18034238_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fa88a474-3320-11e6-bfbd-b63cfc77b11e 14_86825606_GTG . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 14 86825606 GT G 540 PASS RP11-26L16.1 Del intronic 1 1 POLE child 14_86825606_GTG_POLE 1 1 0 - 0 T None fa96da44-328a-11e6-a80b-87090e01a414 11_106775638_GAG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 106775638 GA G 480 PASS GUCY1A2 Del intronic 1 8 MSH6 child 11_106775638_GAG_MSH6 1 1 1 A 7 A Repeat-mediated fa99187c-3285-11e6-99f2-6da635cec73b 1_159545901_CTC . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 1 159545901 CT C 780 PASS - Del - 1 9 POLE child 1_159545901_CTC_POLE 1 1 1 T 8 T Repeat-mediated fa997b76-3273-11e6-8607-751ad9b4fa2c 22_26062760_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 22 26062760 TA T 300 PASS ADRBK2 Del intronic 1 8 MSH6 child 22_26062760_TAT_MSH6 1 1 1 A 7 A Repeat-mediated faaae7bc-328c-11e6-85fc-1cce7098ee92 4_119153199_ATA . HAP1_NUDT1_41-1 HAP1_parental_75_WT_DNA 4 119153199 AT A 300 PASS NDST3 Del intronic 1 9 NUDT1 child 4_119153199_ATA_NUDT1 1 1 1 T 8 T Repeat-mediated faab98dc-328d-11e6-b3cd-1ca5e7d0bdd7 17_28011550_GTG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 17 28011550 GT G 360 PASS SSH2 Del intronic 1 4 FANCC child 17_28011550_GTG_FANCC 1 1 1 T 3 T Repeat-mediated faacb044-3276-11e6-9e0f-7959cab49462 7_100991282_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 7 100991282 AT A 480 PASS - Del - 1 9 MSH6 child 7_100991282_ATA_MSH6 1 1 1 T 8 T Repeat-mediated faae1570-3270-11e6-b5d9-38f41da8ec0e 15_27099029_CATGC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 15 27099029 CATG C 360 PASS - Del - 3 1 FANCC child 15_27099029_CATGC_FANCC 3 3 2 AT 0 - Microhomology-mediated faae3b16-328b-11e6-b576-9f9ccdacbbbf X_127362846_ATA . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA X 127362846 AT A 300 PASS - Del - 1 8 FANCC child X_127362846_ATA_FANCC 1 1 1 T 7 T Repeat-mediated faae6f8e-3289-11e6-a729-f0a020e7b7a8 9_88484150_TAT . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 9 88484150 TA T 360 PASS - Del - 1 9 POLE child 9_88484150_TAT_POLE 1 1 1 A 8 A Repeat-mediated fab1c24e-3273-11e6-aafd-c7dee9d19ece 2_226638857_ATA . HAP1_CHK2_56-8 HAP1_parental_75_WT_DNA 2 226638857 AT A 300 PASS - Del - 1 9 CHK2 child 2_226638857_ATA_CHK2 1 1 1 T 8 T Repeat-mediated fabafef8-3256-11e6-89d3-d29498816cf3 2_123670350_AAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 123670350 A AT 480 PASS - Ins - 1 7 MSH6 child 2_123670350_AAT_MSH6 1 1 - - - - Ins fabbe038-3293-11e6-9420-3d48a178171f 19_8508997_CAGTCTATCTCCTCTGTGA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 19 8508997 CAGTCTATCT CCTCTGTGA 271 PASS HNRNPM Complex upstream 9 0 POLB child 19_8508997_CAGTCTATCTCCTCTGTGA_POLB 1 1 - - - - Complex fac84f32-3255-11e6-a4a7-35f212ae24cf 14_81166867_AAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 14 81166867 A AC 300 PASS CEP128 Ins intronic 1 7 MSH6 child 14_81166867_AAC_MSH6 1 1 - - - - Ins fada5c06-3320-11e6-b559-2d8b9d7ad846 14_62561484_CTGC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 14 62561484 CTG C 420 PASS SYT16 Del intronic 2 1 CHK2 child 14_62561484_CTGC_CHK2 2 2 1 T 0 - Microhomology-mediated fadc589c-3273-11e6-946d-9c2bc7271a47 2_80824753_GAG . HAP1_POLB_35-3 HAP1_parental_75_WT_DNA 2 80824753 GA G 300 PASS CTNNA2 Del intronic 1 8 POLB child 2_80824753_GAG_POLB 1 1 1 A 7 A Repeat-mediated fadff250-3286-11e6-bec9-6bfa4430f757 10_88212373_CCA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 10 88212373 C CA 720 PASS WAPAL Ins intronic 1 7 EXO1 child 10_88212373_CCA_EXO1 1 1 - - - - Ins fae17454-3272-11e6-b332-88ba7d6a9fc7 15_49131223_GAAAACAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 15 49131223 GAAAACA G 480 PASS SHC4 Del intronic 6 1 MSH6 child 15_49131223_GAAAACAG_MSH6 6 6 4 AAAA 0 - Microhomology-mediated fae8f270-326c-11e6-bc62-6d4742c4520d 16_28516077_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 16 28516077 AT A 420 PASS IL27 Del intronic 1 7 MSH6 child 16_28516077_ATA_MSH6 1 1 1 T 6 T Repeat-mediated faea4680-3284-11e6-95c7-6dfa4430f757 11_85547870_TACT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 11 85547870 TAC T 480 PASS - Del - 2 7 EXO1 child 11_85547870_TACT_EXO1 2 2 2 AC 6 AC Repeat-mediated faf49c1a-329e-11e6-b696-dd6225c9da85 5_123919540_AGA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 5 123919540 AG A 660 PASS - Del - 1 6 MSH6 child 5_123919540_AGA_MSH6 1 1 1 G 5 G Repeat-mediated fb005c04-3275-11e6-abaf-4642cab49462 6_125002436_CCT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 125002436 C CT 480 PASS NKAIN2 Ins intronic 1 6 MSH6 child 6_125002436_CCT_MSH6 1 1 - - - - Ins fb1192f6-3272-11e6-9e18-3a69671699ea 10_38514172_GTG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 38514172 GT G 480 PASS - Del - 1 5 MSH6 child 10_38514172_GTG_MSH6 1 1 1 T 4 T Repeat-mediated fb127df2-3320-11e6-b559-2d8b9d7ad846 14_62688781_CTC . HAP1_CHK2_56-9 HAP1_parental_75_WT_DNA 14 62688781 CT C 360 PASS - Del - 1 9 CHK2 child 14_62688781_CTC_CHK2 1 1 1 T 8 T Repeat-mediated fb140e7e-3285-11e6-99f2-6da635cec73b 1_159724404_TAT . HAP1_POLE_34-2 HAP1_parental_75_WT_DNA 1 159724404 TA T 954 PASS - Del - 1 6 POLE child 1_159724404_TAT_POLE 1 1 1 A 5 A Repeat-mediated fb1c4270-3270-11e6-b4bf-85eb97ba1142 2_181655572_GAG . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 2 181655572 GA G 420 PASS - Del - 1 5 EXO1 parent 2_181655572_GAG_EXO1 1 1 1 A 4 A Repeat-mediated fb1cb4d6-32a1-11e6-91d0-016425c9da85 7_107683203_CCA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 107683203 C CA 840 PASS LAMB4 Ins intronic 1 5 MSH6 child 7_107683203_CCA_MSH6 1 1 - - - - Ins fb1d794a-329a-11e6-8d0f-075325c9da85 14_83268373_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 83268373 GA G 360 PASS - Del - 1 8 MSH6 child 14_83268373_GAG_MSH6 1 1 1 A 7 A Repeat-mediated fb200652-329e-11e6-94ca-0aaecc638e3d X_84804391_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA X 84804391 CA C 600 PASS - Del - 1 5 MSH6 child X_84804391_CAC_MSH6 1 1 1 A 4 A Repeat-mediated fb217b5e-329e-11e6-bc2c-2a5e25c9da85 4_133684934_TTCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 133684934 TTC T 720 PASS - Del - 2 6 MSH6 child 4_133684934_TTCT_MSH6 2 2 2 TC 5 TC Repeat-mediated fb22902e-326d-11e6-9f48-94df41c4520d 12_107891547_GCG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 12 107891547 GC G 420 PASS BTBD11 Del intronic 1 3 MSH6 child 12_107891547_GCG_MSH6 1 1 1 C 2 C Repeat-mediated fb23a8de-328f-11e6-b52f-4eeb6f39e758 22_33326497_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 33326497 CT C 600 PASS SYN3 Del intronic 1 9 MSH6 child 22_33326497_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fb30343a-328c-11e6-bd84-429305ad5bc4 1_196832522_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 196832522 CT C 720 PASS CFHR4 Del intronic 1 6 MSH6 child 1_196832522_CTC_MSH6 1 1 1 T 5 T Repeat-mediated fb31f278-3270-11e6-a539-0e5542c4520d 7_147414208_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 7 147414208 GA G 360 PASS CNTNAP2 Del intronic 1 9 MSH6 child 7_147414208_GAG_MSH6 1 1 1 A 8 A Repeat-mediated fb32b7de-3271-11e6-b5d9-38f41da8ec0e 15_68141924_CTCATGCATATGAGCACCAAGTTACAGGTAAAAGAATGTTCAAGGTAGCATTGTCTGC . HAP1_FANCC_27-5 HAP1_parental_75_WT_DNA 15 68141924 CTCATGCATATGAGCACCAAGTTACAGGTAAAAGAATGTTCAAGGTAGCATTGTCTG C 480 PASS RP11-34F13.3 Del intronic 56 1 FANCC child 15_68141924_CTCATGCATATGAGCACCAAGTTACAGGTAAAAGAATGTTCAAGGTAGCATTGTCTGC_FANCC 56 >=10 1 T 0 - Microhomology-mediated fb331f70-3272-11e6-975f-8246cab49462 16_32394022_ATA . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 16 32394022 AT A 456 PASS - Del - 1 5 MSH6 child 16_32394022_ATA_MSH6 1 1 1 T 4 T Repeat-mediated fb345b1c-328e-11e6-bec1-ca1d0e01a414 X_139171084_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 139171084 AT A 300 PASS - Del - 1 8 MSH6 child X_139171084_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fb374892-328c-11e6-8952-77c36f39e758 10_93616437_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 10 93616437 GT G 840 PASS TNKS2 Del intronic 1 8 MSH6 child 10_93616437_GTG_MSH6 1 1 1 T 7 T Repeat-mediated fb3c0c4e-3258-11e6-8cd9-139b7872c165 3_116522858_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 116522858 CA C 540 PASS LSAMP Del intronic 1 8 MSH6 child 3_116522858_CAC_MSH6 1 1 1 A 7 A Repeat-mediated fb3fa15e-3287-11e6-a32f-5b79a178171f 11_17242018_CCCTGA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 11 17242018 C CCTGA 300 PASS NUCB2 Ins intronic 4 0 FANCC child 11_17242018_CCCTGA_FANCC 4 4 - - - - Ins fb473810-3273-11e6-a5d0-4fd14a47a305 2_139546799_TCT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 2 139546799 TC T 780 PASS - Del - 1 2 MSH6 child 2_139546799_TCT_MSH6 1 1 1 C 1 C Repeat-mediated fb480ade-3326-11e6-931e-f67da78019ab 3_138897106_TAT . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 3 138897106 TA T 1020 PASS MRPS22 Del intronic 1 3 POLE child 3_138897106_TAT_POLE 1 1 1 A 2 A Repeat-mediated fb4b34d2-3283-11e6-bf19-ebeb1da8ec0e 9_122294756_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 9 122294756 AT A 660 PASS - Del - 1 8 EXO1 child 9_122294756_ATA_EXO1 1 1 1 T 7 T Repeat-mediated fb4bfd3c-326e-11e6-b306-b5204b47a305 2_209568990_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 209568990 TA T 300 PASS - Del - 1 8 MSH6 child 2_209568990_TAT_MSH6 1 1 1 A 7 A Repeat-mediated fb53948c-3284-11e6-99f7-076ea2c71c31 12_53213307_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 53213307 AT A 600 PASS KRT4 Del upstream 1 5 MSH6 child 12_53213307_ATA_MSH6 1 1 1 T 4 T Repeat-mediated fb5f7cc2-325a-11e6-8b28-55ad7872c165 20_26196559_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 20 26196559 GA G 360 PASS MIR663A Del intronic 1 7 MSH6 child 20_26196559_GAG_MSH6 1 1 1 A 6 A Repeat-mediated fb73b0b6-3282-11e6-8362-ce9a69062303 9_36638196_GTG . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 9 36638196 GT G 480 PASS MELK Del intronic 1 9 FANCC child 9_36638196_GTG_FANCC 1 1 1 T 8 T Repeat-mediated fb78e67a-328d-11e6-b8c3-19a5e7d0bdd7 12_29811144_GTCG . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 12 29811144 GTC G 300 PASS TMTC1 Del intronic 2 2 FANCC child 12_29811144_GTCG_FANCC 2 2 2 TC 1 TC Repeat-mediated fb7e51ee-328f-11e6-9401-04ed6f39e758 3_543193_TTGT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 543193 TTG T 360 PASS - Del - 2 9 MSH6 child 3_543193_TTGT_MSH6 2 2 2 TG 8 TG Repeat-mediated fb842a66-3275-11e6-ab69-1c1607e9a829 9_111135091_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 9 111135091 CT C 360 PASS - Del - 1 9 MSH6 child 9_111135091_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fb8bebb8-328c-11e6-bec1-ca1d0e01a414 X_47361951_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 47361951 AT A 300 PASS - Del - 1 9 MSH6 child X_47361951_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fb911e18-328b-11e6-88c1-95c36f39e758 14_48151928_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 48151928 TA T 420 PASS - Del - 1 9 MSH6 child 14_48151928_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fb9198a6-3287-11e6-bb1d-5179a178171f 13_72192760_GGT . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 13 72192760 G GT 300 PASS DACH1 Ins intronic 1 8 FANCC child 13_72192760_GGT_FANCC 1 1 - - - - Ins fb944a6c-326c-11e6-b2ac-b6204b47a305 17_21442985_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 17 21442985 CT C 420 PASS C17orf51 Del intronic 1 8 MSH6 child 17_21442985_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fba3d0ce-328d-11e6-b6a6-1f1e0e01a414 4_93357658_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 93357658 CT C 480 PASS GRID2 Del intronic 1 8 MSH6 child 4_93357658_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fbaa9bb4-326c-11e6-9793-9a8fb0dab373 13_44971550_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 13 44971550 GA G 360 PASS SERP2 Del 3prime_UTR_variant 1 7 MSH6 child 13_44971550_GAG_MSH6 1 1 1 A 6 A Repeat-mediated fbaefe2c-3288-11e6-b32c-fd87a2c71c31 5_124169829_TTA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 5 124169829 T TA 720 PASS RP11-284A20.3 Ins downstream 1 6 MSH6 child 5_124169829_TTA_MSH6 1 1 - - - - Ins fbb2196c-3284-11e6-9170-b6936f39e758 12_90134765_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 12 90134765 TA T 600 PASS - Del - 1 8 EXO1 child 12_90134765_TAT_EXO1 1 1 1 A 7 A Repeat-mediated fbb67f40-3291-11e6-881f-a0bf4430f757 6_84151324_CTC . HAP1_POLE_34-10 HAP1_parental_75_WT_DNA 6 84151324 CT C 569 PASS - Del - 1 7 POLE child 6_84151324_CTC_POLE 1 1 1 T 6 T Repeat-mediated fbbf28f4-3271-11e6-8f10-bfc27872c165 4_45110072_CAC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 4 45110072 CA C 420 PASS - Del - 1 7 EXO1 parent 4_45110072_CAC_EXO1 1 1 1 A 6 A Repeat-mediated fbc39a50-328b-11e6-b8e6-91c36f39e758 11_28394063_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 28394063 GA G 280 PASS RP11-22P4.1 Del intronic 1 8 MSH6 child 11_28394063_GAG_MSH6 1 1 1 A 7 A Repeat-mediated fbc83c7e-3270-11e6-b923-6726694da5d2 5_110534291_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 110534291 CT C 480 PASS - Del - 1 9 MSH6 child 5_110534291_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fbd8de14-328c-11e6-919e-92c36f39e758 2_98240925_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 98240925 GA G 738 PASS - Del - 1 9 MSH6 child 2_98240925_GAG_MSH6 1 1 1 A 8 A Repeat-mediated fbdc06f0-3284-11e6-be43-0a6ea2c71c31 10_55151725_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 55151725 TA T 360 PASS - Del - 1 5 MSH6 child 10_55151725_TAT_MSH6 1 1 1 A 4 A Repeat-mediated fbe225ba-3254-11e6-89d3-d29498816cf3 2_160556056_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 160556056 CA C 420 PASS AC009961.3 Del intronic 1 9 MSH6 child 2_160556056_CAC_MSH6 1 1 1 A 8 A Repeat-mediated fbff9a22-3273-11e6-abaf-4642cab49462 6_163473465_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 6 163473465 GT G 420 PASS PACRG Del intronic 1 7 MSH6 child 6_163473465_GTG_MSH6 1 1 1 T 6 T Repeat-mediated fc073c1c-3289-11e6-a80b-87090e01a414 11_43689684_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 43689684 TA T 300 PASS - Del - 1 4 MSH6 child 11_43689684_TAT_MSH6 1 1 1 A 3 A Repeat-mediated fc0bd694-3290-11e6-9432-c0e56f39e758 5_170002275_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 170002275 GT G 540 PASS KCNIP1 Del intronic 1 4 MSH6 child 5_170002275_GTG_MSH6 1 1 1 T 3 T Repeat-mediated fc0bef08-3281-11e6-86cf-8f288e4678dd 10_127663267_ATA . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 10 127663267 AT A 360 PASS FANK1 Del intronic 1 5 FANCC child 10_127663267_ATA_FANCC 1 1 1 T 4 T Repeat-mediated fc0cbce8-328c-11e6-bd84-429305ad5bc4 1_197384124_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 197384124 CT C 480 PASS CRB1 Del intronic 1 7 MSH6 child 1_197384124_CTC_MSH6 1 1 1 T 6 T Repeat-mediated fc12a99a-3288-11e6-a4b4-e6cd191589db 17_2520366_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 17 2520366 CA C 600 PASS PAFAH1B1 Del intronic 1 9 FANCC child 17_2520366_CAC_FANCC 1 1 1 A 8 A Repeat-mediated fc1510da-3275-11e6-8c34-46e27872c165 5_42740951_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 5 42740951 GA G 344 PASS - Del - 1 8 MSH6 child 5_42740951_GAG_MSH6 1 1 1 A 7 A Repeat-mediated fc151bd8-3280-11e6-9ec5-888f1ac527ab 13_76677800_TAT . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 13 76677800 TA T 300 PASS - Del - 1 5 FANCC child 13_76677800_TAT_FANCC 1 1 1 A 4 A Repeat-mediated fc227fe2-3278-11e6-a391-f6d67d6a9fc7 6_103578018_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 6 103578018 CT C 600 PASS - Del - 1 8 MSH6 child 6_103578018_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fc23d52c-328c-11e6-bec1-ca1d0e01a414 X_47488889_TCT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA X 47488889 TC T 720 PASS CFP Del intronic 1 7 MSH6 child X_47488889_TCT_MSH6 1 1 1 C 6 C Repeat-mediated fc2f1db8-328e-11e6-bd84-429305ad5bc4 1_160416267_AAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 160416267 A AT 480 PASS - Ins - 1 8 MSH6 child 1_160416267_AAT_MSH6 1 1 - - - - Ins fc37a3cc-3287-11e6-a941-5a85a178171f 9_19854265_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 9 19854265 AT A 540 PASS - Del - 1 8 FANCC child 9_19854265_ATA_FANCC 1 1 1 T 7 T Repeat-mediated fc38cc64-3284-11e6-b093-c9c7b0dab373 2_46854595_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 46854595 TC T 300 PASS CRIPT Del downstream 1 4 MSH6 child 2_46854595_TCT_MSH6 1 1 1 C 3 C Repeat-mediated fc42669a-3282-11e6-bc59-aceb1f4bbf9c 8_15269398_ATA . HAP1_EXO1_40-6 HAP1_parental_75_WT_DNA 8 15269398 AT A 780 PASS - Del - 1 9 EXO1 child 8_15269398_ATA_EXO1 1 1 1 T 8 T Repeat-mediated fc4aae80-3292-11e6-b4ea-e05798ba1142 18_62137303_GAG . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 18 62137303 GA G 420 PASS - Del - 1 8 POLB child 18_62137303_GAG_POLB 1 1 1 A 7 A Repeat-mediated fc500de2-328f-11e6-baa7-a96919a91649 2_166504621_ATA . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 2 166504621 AT A 900 PASS CSRNP3 Del intronic 1 7 NEIL1 child 2_166504621_ATA_NEIL1 1 1 1 T 6 T Repeat-mediated fc5c1624-3270-11e6-8418-1c5942c4520d 3_99592464_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 99592464 GT G 600 PASS FILIP1L Del intronic 1 8 MSH6 child 3_99592464_GTG_MSH6 1 1 1 T 7 T Repeat-mediated fc5e1c58-3289-11e6-9996-bebd38e8a824 X_24179918_ATTCA . HAP1_NUDT1_41 HAP1_parental_75_WT_DNA X 24179918 ATTC A 540 PASS ZFX Del 5prime_UTR_variant 3 3 NUDT1 parent X_24179918_ATTCA_NUDT1 3 3 3 TTC 2 TTC Repeat-mediated fc700ca0-3299-11e6-b549-1e5325c9da85 10_9260422_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 9260422 AT A 360 PASS - Del - 1 8 MSH6 child 10_9260422_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fc709e18-328a-11e6-a7cf-80090e01a414 15_75601928_CTC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 75601928 CT C 540 PASS - Del - 1 8 MSH6 child 15_75601928_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fc785fa6-3288-11e6-a8ac-a28ea2c71c31 3_133224500_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 3 133224500 TA T 480 PASS - Del - 1 9 MSH6 child 3_133224500_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fc7c3bfe-3287-11e6-afcf-0311bce6aa09 9_113362394_GGT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 9 113362394 G GT 720 PASS RP11-410K21.2 Ins intronic 1 7 MSH6 child 9_113362394_GGT_MSH6 1 1 - - - - Ins fc808d26-3287-11e6-8bbd-f88da2c71c31 21_40998530_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 21 40998530 GT G 420 PASS B3GALT5 Del intronic 1 9 MSH6 child 21_40998530_GTG_MSH6 1 1 1 T 8 T Repeat-mediated fc94cd24-3320-11e6-925a-9564694da5d2 2_24629027_ATA . HAP1_POLE_34-4 HAP1_parental_75_WT_DNA 2 24629027 AT A 660 PASS - Del - 1 9 POLE child 2_24629027_ATA_POLE 1 1 1 T 8 T Repeat-mediated fc9e7eca-3283-11e6-94be-6cfa4430f757 12_4115796_GTG . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 12 4115796 GT G 600 PASS - Del - 1 3 EXO1 child 12_4115796_GTG_EXO1 1 1 1 T 2 T Repeat-mediated fca575dc-334a-11e6-be18-768ca20b69d5 3_142115088_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 3 142115088 AT A 660 PASS XRN1 Del intronic 1 9 FANCC child 3_142115088_ATA_FANCC 1 1 1 T 8 T Repeat-mediated fca5f31c-3274-11e6-865b-486635761512 18_19871438_GTG . HAP1_POLM_21-4 HAP1_parental_75_WT_DNA 18 19871438 GT G 360 PASS - Del - 1 9 POLM child 18_19871438_GTG_POLM 1 1 1 T 8 T Repeat-mediated fcb118ec-329b-11e6-b549-1e5325c9da85 10_128045898_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 128045898 GA G 480 PASS ADAM12 Del intronic 1 9 MSH6 child 10_128045898_GAG_MSH6 1 1 1 A 8 A Repeat-mediated fcb2ef0e-3256-11e6-885f-d1947872c165 4_57806602_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 4 57806602 TA T 420 PASS REST Del downstream 1 9 MSH6 child 4_57806602_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fcb4587e-3280-11e6-b0da-c38569062303 12_578266_CTC . HAP1_POLE_34 HAP1_parental_75_WT_DNA 12 578266 CT C 660 PASS B4GALNT3 Del intronic 1 5 POLE parent 12_578266_CTC_POLE 1 1 1 T 4 T Repeat-mediated fcba99c0-3279-11e6-a05d-037890e2c2e6 12_83678270_CAAC . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 12 83678270 CAA C 540 PASS - Del - 2 3 FANCC parent 12_83678270_CAAC_FANCC 2 2 1 A 0 - Microhomology-mediated fcbbbd82-328d-11e6-8621-65d8191589db 4_142173892_CAC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 4 142173892 CA C 600 PASS RP11-586L23.1 Del intronic 1 9 FANCC child 4_142173892_CAC_FANCC 1 1 1 A 8 A Repeat-mediated fcbddf12-3270-11e6-b5b8-e0c24a47a305 X_103976091_CTC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 103976091 CT C 540 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_103976091_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fcbdee42-3281-11e6-b1f4-d855f7d33ce3 10_128127623_ACA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 10 128127623 AC A 300 PASS C10orf90 Del intronic 1 3 NUDT1 child 10_128127623_ACA_NUDT1 1 1 1 C 2 C Repeat-mediated fcc2e598-3270-11e6-b5b8-e0c24a47a305 X_103995558_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 103995558 TA T 660 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_103995558_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fcd5312c-3274-11e6-aa3b-ca60a178171f 13_105233740_GGT . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 13 105233740 G GT 360 PASS - Ins - 1 6 MSH6 child 13_105233740_GGT_MSH6 1 1 - - - - Ins fce06948-3323-11e6-8527-5503694da5d2 X_47008731_GTG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA X 47008731 GT G 420 PASS RBM10 Del intronic 1 9 EXO1 child X_47008731_GTG_EXO1 1 1 1 T 8 T Repeat-mediated fce1b7a4-3296-11e6-a8ac-ea4f3dc9300a 6_67514558_ATA . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 6 67514558 AT A 360 PASS - Del - 1 8 POLB child 6_67514558_ATA_POLB 1 1 1 T 7 T Repeat-mediated fce2ca70-3270-11e6-b923-6726694da5d2 5_110798984_GAG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 5 110798984 GA G 360 PASS CAMK4 Del intronic 1 8 MSH6 child 5_110798984_GAG_MSH6 1 1 1 A 7 A Repeat-mediated fce75cc8-3254-11e6-b4d0-327a7872c165 11_98336973_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 98336973 GT G 660 PASS - Del - 1 7 MSH6 child 11_98336973_GTG_MSH6 1 1 1 T 6 T Repeat-mediated fcec458a-3272-11e6-9dfc-541498ba1142 8_68567193_CTTC . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 8 68567193 CTT C 947 PASS CPA6 Del intronic 2 3 EXO1 parent 8_68567193_CTTC_EXO1 2 2 1 T 0 - Microhomology-mediated fcf0ede4-3270-11e6-b5b8-e0c24a47a305 X_104090879_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA X 104090879 GT G 411 PASS IL1RAPL2 Del intronic 1 9 MSH6 child X_104090879_GTG_MSH6 1 1 1 T 8 T Repeat-mediated fcf66b4a-328c-11e6-919e-92c36f39e758 2_98496202_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 98496202 AT A 480 PASS TMEM131 Del intronic 1 9 MSH6 child 2_98496202_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fcfd7dac-328e-11e6-bfa2-581f0e01a414 7_137261602_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 7 137261602 AT A 780 PASS DGKI Del intronic 1 9 MSH6 child 7_137261602_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fd22d13c-326c-11e6-92dd-fda8977b3f23 10_36089398_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 10 36089398 AT A 300 PASS - Del - 1 6 MSH6 child 10_36089398_ATA_MSH6 1 1 1 T 5 T Repeat-mediated fd244aca-328b-11e6-8770-3e160e01a414 9_23734820_CAAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 9 23734820 CAA C 360 PASS ELAVL2 Del intronic 2 9 MSH6 child 9_23734820_CAAC_MSH6 2 2 2 AA 7 A Repeat-mediated fd269718-329e-11e6-aea7-956725c9da85 3_33188645_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 33188645 GA G 420 PASS CRTAP Del 3prime_UTR_variant 1 7 MSH6 child 3_33188645_GAG_MSH6 1 1 1 A 6 A Repeat-mediated fd28bc0a-329e-11e6-bc2c-2a5e25c9da85 4_134159704_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 4 134159704 GT G 420 PASS - Del - 1 7 MSH6 child 4_134159704_GTG_MSH6 1 1 1 T 6 T Repeat-mediated fd2a266c-3271-11e6-b89d-b2d6b0dab373 4_167259588_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 167259588 AT A 480 PASS - Del - 1 8 MSH6 child 4_167259588_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fd2ee1b0-3254-11e6-aedc-3df212ae24cf 19_57121821_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 57121821 CT C 300 PASS ZNF71 Del intronic 1 9 MSH6 child 19_57121821_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fd39342a-3291-11e6-9401-04ed6f39e758 3_140650489_ACA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 140650489 AC A 360 PASS - Del - 1 1 MSH6 child 3_140650489_ACA_MSH6 1 1 0 - 0 C None fd48fc28-3275-11e6-8889-c85efc77b11e 4_143640114_TAT . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 4 143640114 TA T 420 PASS INPP4B Del intronic 1 7 MSH6 parent 4_143640114_TAT_MSH6 1 1 1 A 6 A Repeat-mediated fd4c0ac2-3323-11e6-898e-b9f2bbe6aa09 3_127401478_AGA . HAP1_POLE_34-9 HAP1_parental_75_WT_DNA 3 127401478 AG A 480 PASS ABTB1 Del downstream 1 3 POLE child 3_127401478_AGA_POLE 1 1 1 G 2 G Repeat-mediated fd552ab2-328d-11e6-bb1e-70e16f39e758 X_12597771_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 12597771 AT A 600 PASS FRMPD4 Del intronic 1 8 MSH6 child X_12597771_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fd563a78-327f-11e6-aba2-2800bce6aa09 18_61288789_ATA . HAP1_POLM_21-2 HAP1_parental_75_WT_DNA 18 61288789 AT A 600 PASS - Del - 1 8 POLM child 18_61288789_ATA_POLM 1 1 1 T 7 T Repeat-mediated fd68286e-331f-11e6-84e3-a2cceab8d062 2_31002841_TAT . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 2 31002841 TA T 840 PASS CAPN13 Del intronic 1 5 CHK2 parent 2_31002841_TAT_CHK2 1 1 1 A 4 A Repeat-mediated fd6c99c0-328a-11e6-8459-82090e01a414 12_101510032_TGT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 12 101510032 TG T 600 PASS ANO4 Del intronic 1 6 MSH6 child 12_101510032_TGT_MSH6 1 1 1 G 5 G Repeat-mediated fd6d225e-329a-11e6-b549-1e5325c9da85 10_70569476_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 10 70569476 CT C 840 PASS - Del - 1 8 MSH6 child 10_70569476_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fd764128-3320-11e6-aa01-c73272d7bc54 12_29786760_GACAAGGACAGCG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 12 29786760 GACAAGGACAGC G 300 PASS TMTC1 Del intronic 11 1 EXO1 child 12_29786760_GACAAGGACAGCG_EXO1 11 >=10 0 - 0 - None fd7a7ad0-3254-11e6-aedc-3df212ae24cf 19_57199074_CTC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 19 57199074 CT C 660 PASS AC007228.5 Del downstream 1 9 MSH6 child 19_57199074_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fd890958-3284-11e6-873a-cd2d36fc2f7d 8_91359724_ATA . HAP1_NUDT1_41-6 HAP1_parental_75_WT_DNA 8 91359724 AT A 300 PASS LINC00534 Del intronic 1 8 NUDT1 child 8_91359724_ATA_NUDT1 1 1 1 T 7 T Repeat-mediated fd8ce242-3290-11e6-9401-04ed6f39e758 3_66975760_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 3 66975760 GA G 780 PASS - Del - 1 7 MSH6 child 3_66975760_GAG_MSH6 1 1 1 A 6 A Repeat-mediated fd913298-328b-11e6-8106-81c36f39e758 19_20427330_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 20427330 CA C 600 PASS - Del - 1 9 MSH6 child 19_20427330_CAC_MSH6 1 1 1 A 8 A Repeat-mediated fd9fc520-328a-11e6-9f78-a18aa178171f 7_150494692_ATA . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 7 150494692 AT A 540 PASS TMEM176A Del upstream 1 7 FANCC child 7_150494692_ATA_FANCC 1 1 1 T 6 T Repeat-mediated fd9fceaa-329c-11e6-a5cf-e5abcc638e3d 9_67309783_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 9 67309783 TA T 327 PASS - Del - 1 8 MSH6 child 9_67309783_TAT_MSH6 1 1 1 A 7 A Repeat-mediated fda39e56-329a-11e6-8d0f-075325c9da85 14_83949764_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 14 83949764 GA G 660 PASS - Del - 1 9 MSH6 child 14_83949764_GAG_MSH6 1 1 1 A 8 A Repeat-mediated fdae92f6-3278-11e6-a05d-037890e2c2e6 12_18961188_ATA . HAP1_FANCC_27 HAP1_parental_75_WT_DNA 12 18961188 AT A 780 PASS - Del - 1 6 FANCC parent 12_18961188_ATA_FANCC 1 1 1 T 5 T Repeat-mediated fdbae89a-3290-11e6-9432-c0e56f39e758 5_170781036_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 5 170781036 CT C 360 PASS - Del - 1 9 MSH6 child 5_170781036_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fdbde21a-329b-11e6-8069-175325c9da85 12_122904583_ATA . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 122904583 AT A 480 PASS CLIP1 Del intronic 1 8 MSH6 child 12_122904583_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fdbfbeb0-329a-11e6-a5cf-205325c9da85 11_70506853_TTCT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 11 70506853 TTC T 360 PASS SHANK2 Del intronic 2 4 MSH6 child 11_70506853_TTCT_MSH6 2 2 2 TC 3 TC Repeat-mediated fdc090c4-3254-11e6-89d3-d29498816cf3 2_161064649_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 161064649 TA T 480 PASS - Del - 1 5 MSH6 child 2_161064649_TAT_MSH6 1 1 1 A 4 A Repeat-mediated fdc339fa-3254-11e6-9f9d-2c7a7872c165 12_97165460_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 97165460 CA C 480 PASS - Del - 1 9 MSH6 child 12_97165460_CAC_MSH6 1 1 1 A 8 A Repeat-mediated fdc66550-3284-11e6-b19c-6afa4430f757 1_81478989_TCT . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 1 81478989 TC T 780 PASS - Del - 1 2 EXO1 child 1_81478989_TCT_EXO1 1 1 1 C 1 C Repeat-mediated fdcbcd10-3270-11e6-8418-1c5942c4520d 3_100107652_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 100107652 TA T 360 PASS TOMM70A Del intronic 1 5 MSH6 child 3_100107652_TAT_MSH6 1 1 1 A 4 A Repeat-mediated fdcd9dca-3289-11e6-a80b-87090e01a414 11_44049717_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 11 44049717 TA T 360 PASS - Del - 1 8 MSH6 child 11_44049717_TAT_MSH6 1 1 1 A 7 A Repeat-mediated fdedfe82-328c-11e6-b4fe-93c36f39e758 12_89018685_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 89018685 TA T 480 PASS - Del - 1 8 MSH6 child 12_89018685_TAT_MSH6 1 1 1 A 7 A Repeat-mediated fe039f80-326e-11e6-b306-b5204b47a305 2_210762298_TAT . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 2 210762298 TA T 480 PASS UNC80 Del intronic 1 9 MSH6 child 2_210762298_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fe04cb82-328f-11e6-92cf-bf2a0e01a414 6_75630993_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 6 75630993 AT A 420 PASS - Del - 1 9 MSH6 child 6_75630993_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fe052c2c-3257-11e6-acc5-308412ae24cf 5_116321250_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 116321250 GA G 600 PASS - Del - 1 7 MSH6 child 5_116321250_GAG_MSH6 1 1 1 A 6 A Repeat-mediated fe05a196-3290-11e6-9d97-efe56f39e758 4_160431999_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 4 160431999 AT A 480 PASS - Del - 1 9 MSH6 child 4_160431999_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fe22f476-328b-11e6-88c1-95c36f39e758 14_48869996_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 14 48869996 TA T 600 PASS RP11-2G1.1 Del intronic 1 9 MSH6 child 14_48869996_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fe25fc2a-3272-11e6-83ef-69fb06e9a829 18_44050483_CTC . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 18 44050483 CT C 300 PASS - Del - 1 9 MSH6 child 18_44050483_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fe26acca-3253-11e6-89d3-d29498816cf3 2_50641650_GTG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 2 50641650 GT G 300 PASS NRXN1 Del intronic 1 7 MSH6 child 2_50641650_GTG_MSH6 1 1 1 T 6 T Repeat-mediated fe27c812-3285-11e6-b093-c9c7b0dab373 2_128752175_TAT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 2 128752175 TA T 540 PASS SAP130 Del intronic 1 7 MSH6 child 2_128752175_TAT_MSH6 1 1 1 A 6 A Repeat-mediated fe2e1c2e-3296-11e6-a24b-ac3c7a852e0e 6_25179299_GGT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 6 25179299 G GT 300 PASS - Ins - 1 8 CHK2 child 6_25179299_GGT_CHK2 1 1 - - - - Ins fe2fd272-3259-11e6-8340-da9012ae24cf 6_104357337_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 104357337 AT A 600 PASS - Del - 1 9 MSH6 child 6_104357337_ATA_MSH6 1 1 1 T 8 T Repeat-mediated fe4eeba8-3259-11e6-8340-da9012ae24cf 6_104419123_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 6 104419123 CA C 300 PASS - Del - 1 9 MSH6 child 6_104419123_CAC_MSH6 1 1 1 A 8 A Repeat-mediated fe4f4a94-3295-11e6-b0f9-fcf7d8b4fa2c X_78151266_CTC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA X 78151266 CT C 420 PASS - Del - 1 8 NUDT1 child X_78151266_CTC_NUDT1 1 1 1 T 7 T Repeat-mediated fe4f57ae-328c-11e6-bd84-429305ad5bc4 1_198673581_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 1 198673581 AT A 540 PASS PTPRC Del intronic 1 8 MSH6 child 1_198673581_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fe4f870c-328b-11e6-94b1-74090e01a414 17_58927293_AAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 17 58927293 A AT 300 PASS BCAS3 Ins intronic 1 5 MSH6 child 17_58927293_AAT_MSH6 1 1 - - - - Ins fe526a90-3299-11e6-ae71-0c5325c9da85 1_9725813_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 9725813 CT C 960 PASS PIK3CD Del intronic 1 9 MSH6 child 1_9725813_CTC_MSH6 1 1 1 T 8 T Repeat-mediated fe54ab84-3280-11e6-88ca-c78169062303 16_33056134_CTC . HAP1_FANCC_27-11 HAP1_parental_75_WT_DNA 16 33056134 CT C 292 PASS RP11-19N8.4 Del intronic 1 6 FANCC child 16_33056134_CTC_FANCC 1 1 1 T 5 T Repeat-mediated fe5d2568-326f-11e6-9fba-41ebd8b4fa2c 11_129084315_GTG . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 11 129084315 GT G 300 PASS - Del - 1 6 MSH6 child 11_129084315_GTG_MSH6 1 1 1 T 5 T Repeat-mediated fe5dd99a-3288-11e6-a5b3-3f1ebce6aa09 7_80748714_CCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 7 80748714 C CT 720 PASS - Ins - 1 2 MSH6 child 7_80748714_CCT_MSH6 1 1 - - - - Ins fe5e6796-3285-11e6-99f7-076ea2c71c31 12_131981065_TCT . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 12 131981065 TC T 420 PASS RP11-897M7.1 Del upstream 1 7 MSH6 child 12_131981065_TCT_MSH6 1 1 1 C 6 C Repeat-mediated fe639384-3270-11e6-b89d-b2d6b0dab373 4_100805722_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 4 100805722 CA C 480 PASS LAMTOR3 Del intronic 1 9 MSH6 child 4_100805722_CAC_MSH6 1 1 1 A 8 A Repeat-mediated fe65284c-3285-11e6-a8af-066ea2c71c31 15_88410038_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 15 88410038 CT C 540 PASS - Del - 1 8 MSH6 child 15_88410038_CTC_MSH6 1 1 1 T 7 T Repeat-mediated fe68542e-3256-11e6-acc5-308412ae24cf 5_43359889_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 5 43359889 AT A 660 PASS - Del - 1 7 MSH6 child 5_43359889_ATA_MSH6 1 1 1 T 6 T Repeat-mediated fe6d639a-326c-11e6-adc2-b7204b47a305 18_33399261_CAC . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 18 33399261 CA C 300 PASS - Del - 1 8 MSH6 child 18_33399261_CAC_MSH6 1 1 1 A 7 A Repeat-mediated fe8028a8-3254-11e6-81f9-42f212ae24cf 17_74205325_GAG . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 17 74205325 GA G 660 PASS RNF157 Del intronic 1 5 MSH6 child 17_74205325_GAG_MSH6 1 1 1 A 4 A Repeat-mediated fe8ae878-3287-11e6-8404-8e1fbce6aa09 8_76597811_ATA . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 8 76597811 AT A 360 PASS - Del - 1 8 MSH6 child 8_76597811_ATA_MSH6 1 1 1 T 7 T Repeat-mediated fe907fea-3287-11e6-a21c-b819bce6aa09 X_154380730_CTC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA X 154380730 CT C 420 PASS MTCP1 Del upstream 1 7 MSH6 child X_154380730_CTC_MSH6 1 1 1 T 6 T Repeat-mediated fe90d6f6-328d-11e6-95e7-278b54de4fc4 20_5217169_CTC . HAP1_CHK2_56-12 HAP1_parental_75_WT_DNA 20 5217169 CT C 420 PASS - Del - 1 8 CHK2 child 20_5217169_CTC_CHK2 1 1 1 T 7 T Repeat-mediated fe96d4e8-3288-11e6-bf15-aeb06f39e758 6_34297423_TAT . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 6 34297423 TA T 410 PASS NUDT3 Del intronic 1 9 EXO1 child 6_34297423_TAT_EXO1 1 1 1 A 8 A Repeat-mediated fe9b8d86-3273-11e6-8d20-7365cde16804 5_38638510_GAAGAG . HAP1_MSH6_30 HAP1_parental_75_WT_DNA 5 38638510 GAAGA G 480 PASS - Del - 4 2 MSH6 parent 5_38638510_GAAGAG_MSH6 4 4 4 AAGA 1 AAGA Repeat-mediated fea2f6a2-3327-11e6-9eb4-dd99cf737e61 8_18034102_TTTTTTTTTTG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 8 18034102 T TTTTTTTTTG 420 PASS NAT1 Ins intronic 9 0 EXO1 child 8_18034102_TTTTTTTTTTG_EXO1 9 9 - - - - Ins feab631e-328c-11e6-b4fe-93c36f39e758 12_89415996_GAG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 12 89415996 GA G 420 PASS RP11-13A1.1 Del upstream 1 8 MSH6 child 12_89415996_GAG_MSH6 1 1 1 A 7 A Repeat-mediated febb12e0-3346-11e6-b5ef-938f38e8a824 13_30646180_GGC . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 13 30646180 G GC 360 PASS - Ins - 1 3 FANCC child 13_30646180_GGC_FANCC 1 1 - - - - Ins fec54e62-3257-11e6-9d15-298312ae24cf X_88970514_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA X 88970514 CA C 396 PASS - Del - 1 8 MSH6 child X_88970514_CAC_MSH6 1 1 1 A 7 A Repeat-mediated fececbfa-329c-11e6-ae71-0c5325c9da85 1_182646205_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 182646205 CA C 420 PASS RGS8 Del upstream 1 9 MSH6 child 1_182646205_CAC_MSH6 1 1 1 A 8 A Repeat-mediated feced0be-328d-11e6-b6a6-1f1e0e01a414 4_94668197_CAC . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 4 94668197 CA C 360 PASS GRID2 Del intronic 1 9 MSH6 child 4_94668197_CAC_MSH6 1 1 1 A 8 A Repeat-mediated fed02f66-329e-11e6-aea7-956725c9da85 3_33647812_TAT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 3 33647812 TA T 540 PASS CLASP2 Del intronic 1 9 MSH6 child 3_33647812_TAT_MSH6 1 1 1 A 8 A Repeat-mediated fed10a8c-328d-11e6-919e-92c36f39e758 2_170457744_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 170457744 AT A 780 PASS PPIG Del intronic 1 7 MSH6 child 2_170457744_ATA_MSH6 1 1 1 T 6 T Repeat-mediated fed4b568-3285-11e6-bec9-6bfa4430f757 10_6082119_TTTGA . HAP1_EXO1_40-1 HAP1_parental_75_WT_DNA 10 6082119 T TTGA 600 PASS IL2RA Ins intronic 3 0 EXO1 child 10_6082119_TTTGA_EXO1 3 3 - - - - Ins fed69e3c-329e-11e6-91d0-016425c9da85 7_90587831_CTC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 7 90587831 CT C 720 PASS CDK14 Del intronic 1 6 MSH6 child 7_90587831_CTC_MSH6 1 1 1 T 5 T Repeat-mediated fed7b5ee-3323-11e6-84ae-c56036fc2f7d 4_138821647_ATA . HAP1_CHK2_56 HAP1_parental_75_WT_DNA 4 138821647 AT A 1080 PASS - Del - 1 8 CHK2 parent 4_138821647_ATA_CHK2 1 1 1 T 7 T Repeat-mediated fee0615c-3284-11e6-be43-0a6ea2c71c31 10_55904282_GTG . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 10 55904282 GT G 480 PASS PCDH15 Del intronic 1 7 MSH6 child 10_55904282_GTG_MSH6 1 1 1 T 6 T Repeat-mediated fee2b062-3291-11e6-9a6c-80dad8b4fa2c 18_62491910_CAGC . HAP1_NUDT1_41-12 HAP1_parental_75_WT_DNA 18 62491910 CAG C 300 PASS - Del - 2 2 NUDT1 child 18_62491910_CAGC_NUDT1 2 2 2 AG 1 AG Repeat-mediated fee7e2b6-328d-11e6-bb1e-70e16f39e758 X_13160562_TAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 13160562 TA T 480 PASS - Del - 1 5 MSH6 child X_13160562_TAT_MSH6 1 1 1 A 4 A Repeat-mediated ff0f7cb8-3256-11e6-a304-347a7872c165 1_239237473_CAC . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 1 239237473 CA C 300 PASS - Del - 1 4 MSH6 child 1_239237473_CAC_MSH6 1 1 1 A 3 A Repeat-mediated ff10aae0-3321-11e6-98d8-e3f9cf737e61 17_73319949_GGCTCAGTCTCGGCTCACTGCAACCTCTG . HAP1_EXO1_40-2 HAP1_parental_75_WT_DNA 17 73319949 GGCTCAGTCTCGGCTCACTGCAACCTCT G 269 PASS GRB2 Del intronic 27 1 EXO1 child 17_73319949_GGCTCAGTCTCGGCTCACTGCAACCTCTG_EXO1 27 >=10 2 GC 0 - Microhomology-mediated ff12987a-3284-11e6-97d5-6cf1bbe6aa09 17_45704920_CGC . HAP1_MSH6_30-5 HAP1_parental_75_WT_DNA 17 45704920 CG C 330 PASS NPEPPS Del downstream 1 7 MSH6 child 17_45704920_CGC_MSH6 1 1 1 G 6 G Repeat-mediated ff153844-3281-11e6-8c30-2208694da5d2 4_87983063_CTC . HAP1_NEIL1_3-4 HAP1_parental_75_WT_DNA 4 87983063 CT C 300 PASS AFF1 Del intronic 1 7 NEIL1 child 4_87983063_CTC_NEIL1 1 1 1 T 6 T Repeat-mediated ff285966-328a-11e6-9539-3490a178171f 3_115005257_GTG . HAP1_FANCC_27-6 HAP1_parental_75_WT_DNA 3 115005257 GT G 360 PASS RP11-190P13.2 Del downstream 1 9 FANCC child 3_115005257_GTG_FANCC 1 1 1 T 8 T Repeat-mediated ff2ccbe8-3291-11e6-9918-e08630158702 10_44075282_TAT . HAP1_NUDT1_41-2 HAP1_parental_75_WT_DNA 10 44075282 TA T 420 PASS - Del - 1 7 NUDT1 child 10_44075282_TAT_NUDT1 1 1 1 A 6 A Repeat-mediated ff2e47d0-3290-11e6-a043-93e7977b3f23 3_108439549_ACA . HAP1_NEIL1_3-7 HAP1_parental_75_WT_DNA 3 108439549 AC A 360 PASS - Del - 1 1 NEIL1 child 3_108439549_ACA_NEIL1 1 1 0 - 0 C None ff2ef9e6-3259-11e6-8cd9-139b7872c165 3_188606737_AGA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 3 188606737 AG A 480 PASS LPP Del 3prime_UTR_variant 1 3 MSH6 child 3_188606737_AGA_MSH6 1 1 1 G 2 G Repeat-mediated ff33b754-3292-11e6-89b3-f12a3dc9300a 15_59218995_TAGT . HAP1_POLB_35-1 HAP1_parental_75_WT_DNA 15 59218995 TAG T 540 PASS SLTM Del intronic 2 3 POLB child 15_59218995_TAGT_POLB 2 2 2 AG 2 AG Repeat-mediated ff4984ca-327f-11e6-8c98-e78c90e2c2e6 4_146456813_GAG . HAP1_NUDT1_41-8 HAP1_parental_75_WT_DNA 4 146456813 GA G 540 PASS SMAD1 Del intronic 1 7 NUDT1 child 4_146456813_GAG_NUDT1 1 1 1 A 6 A Repeat-mediated ff4e9d18-328c-11e6-919e-92c36f39e758 2_99302992_GTG . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 99302992 GT G 420 PASS MGAT4A Del intronic 1 9 MSH6 child 2_99302992_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ff4ed9b4-3277-11e6-8440-785ac225ee11 20_35201277_CCATGA . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 20 35201277 C CATGA 600 PASS TGIF2 Ins upstream 4 0 NUDT1 child 20_35201277_CCATGA_NUDT1 4 4 - - - - Ins ff504f7c-326f-11e6-8325-b737c225ee11 1_71034042_GTG . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 1 71034042 GT G 720 PASS - Del - 1 2 NUDT1 child 1_71034042_GTG_NUDT1 1 1 1 T 1 T Repeat-mediated ff757d16-328c-11e6-8e48-791e0e01a414 8_30851245_TAT . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 8 30851245 TA T 480 PASS PURG Del downstream 1 9 MSH6 child 8_30851245_TAT_MSH6 1 1 1 A 8 A Repeat-mediated ff765c7a-3289-11e6-b8e0-dcb35d753391 7_3200683_CGTC . HAP1_POLE_34-11 HAP1_parental_75_WT_DNA 7 3200683 CGT C 360 PASS - Del - 2 5 POLE child 7_3200683_CGTC_POLE 2 2 2 GT 4 GT Repeat-mediated ff76cfd6-3273-11e6-9e18-3a69671699ea 10_107610885_GAG . HAP1_MSH6_30-16 HAP1_parental_75_WT_DNA 10 107610885 GA G 408 PASS - Del - 1 6 MSH6 child 10_107610885_GAG_MSH6 1 1 1 A 5 A Repeat-mediated ff7a651a-328c-11e6-ae53-96c36f39e758 15_74596251_CTC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 15 74596251 CT C 480 PASS CCDC33 Del intronic 1 5 MSH6 child 15_74596251_CTC_MSH6 1 1 1 T 4 T Repeat-mediated ff7a6a88-3273-11e6-bb11-3076a78019ab 14_37402464_GCG . HAP1_NEIL1_3-6 HAP1_parental_75_WT_DNA 14 37402464 GC G 660 PASS SLC25A21 Del intronic 1 4 NEIL1 child 14_37402464_GCG_NEIL1 1 1 1 C 3 C Repeat-mediated ff7cbae2-3253-11e6-bf41-357a7872c165 10_29124306_TAT . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 10 29124306 TA T 540 PASS - Del - 1 7 MSH6 child 10_29124306_TAT_MSH6 1 1 1 A 6 A Repeat-mediated ff8b24b4-328b-11e6-8106-81c36f39e758 19_20948613_CAC . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 19 20948613 CA C 400 PASS - Del - 1 7 MSH6 child 19_20948613_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ff8e87c6-328b-11e6-b805-77090e01a414 2_182888535_ATA . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 2 182888535 AT A 600 PASS PPP1R1C Del intronic 1 9 MSH6 child 2_182888535_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ff9075b4-328f-11e6-850b-ec0b9c6d3b88 4_47912372_TAT . HAP1_POLB_35-5 HAP1_parental_75_WT_DNA 4 47912372 TA T 360 PASS NFXL1 Del intronic 1 3 POLB child 4_47912372_TAT_POLB 1 1 1 A 2 A Repeat-mediated ff921ff8-3286-11e6-86e9-d4770d016689 X_117897889_ACA . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA X 117897889 AC A 300 PASS IL13RA1 Del intronic 1 1 EXO1 child X_117897889_ACA_EXO1 1 1 0 - 0 C None ff92cb44-3289-11e6-a7cf-80090e01a414 15_55010990_GTG . HAP1_MSH6_30-9 HAP1_parental_75_WT_DNA 15 55010990 GT G 300 PASS - Del - 1 9 MSH6 child 15_55010990_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ff93dde4-328f-11e6-bb1e-70e16f39e758 X_135956397_TGGAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA X 135956397 TGGA T 708 PASS RBMX Del inframe 3 2 MSH6 child X_135956397_TGGAT_MSH6 3 3 3 GGA 1 GGA Repeat-mediated ff9cec36-3253-11e6-b4d0-327a7872c165 11_31922767_ATA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 11 31922767 AT A 540 PASS - Del - 1 9 MSH6 child 11_31922767_ATA_MSH6 1 1 1 T 8 T Repeat-mediated ffa01f6c-32a0-11e6-a04f-c66a25c9da85 6_109914588_CAC . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 6 109914588 CA C 1137 PASS AK9 Del intronic 1 7 MSH6 child 6_109914588_CAC_MSH6 1 1 1 A 6 A Repeat-mediated ffa22c5a-328f-11e6-b52f-4eeb6f39e758 22_34409697_ATA . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 22 34409697 AT A 720 PASS LL22NC03-86D4.1 Del upstream 1 8 MSH6 child 22_34409697_ATA_MSH6 1 1 1 T 7 T Repeat-mediated ffa5da30-3285-11e6-9546-b5936f39e758 15_92374988_GTG . HAP1_EXO1_40-5 HAP1_parental_75_WT_DNA 15 92374988 GT G 300 PASS - Del - 1 7 EXO1 child 15_92374988_GTG_EXO1 1 1 1 T 6 T Repeat-mediated ffaca27c-326f-11e6-8418-1c5942c4520d 3_5532223_ATA . HAP1_MSH6_30-2 HAP1_parental_75_WT_DNA 3 5532223 AT A 480 PASS - Del - 1 5 MSH6 child 3_5532223_ATA_MSH6 1 1 1 T 4 T Repeat-mediated ffad290e-326f-11e6-9dd9-e411987b3f23 2_99727131_CAC . HAP1_NEIL1_3-3 HAP1_parental_75_WT_DNA 2 99727131 CA C 960 PASS TSGA10 Del intronic 1 8 NEIL1 child 2_99727131_CAC_NEIL1 1 1 1 A 7 A Repeat-mediated ffb0311e-3290-11e6-9413-6a7219a91649 5_19708554_CAC . HAP1_NEIL1_3-2 HAP1_parental_75_WT_DNA 5 19708554 CA C 480 PASS CDH18 Del intronic 1 9 NEIL1 child 5_19708554_CAC_NEIL1 1 1 1 A 8 A Repeat-mediated ffb5e634-328d-11e6-94e1-63e1191589db 3_51295942_CTC . HAP1_FANCC_27-1 HAP1_parental_75_WT_DNA 3 51295942 CT C 300 PASS DOCK3 Del intronic 1 9 FANCC child 3_51295942_CTC_FANCC 1 1 1 T 8 T Repeat-mediated ffc03208-328b-11e6-b8e6-91c36f39e758 11_29563121_TTACTAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 11 29563121 TTACTA T 420 PASS CTD-3012A18.1 Del intronic 5 1 MSH6 child 11_29563121_TTACTAT_MSH6 5 5 3 TAC 0 - Microhomology-mediated ffc0b6b4-327d-11e6-a700-ff0e9ecd0b3a 4_21860012_AGA . HAP1_POLM_21-12 HAP1_parental_75_WT_DNA 4 21860012 AG A 840 PASS KCNIP4 Del intronic 1 1 POLM child 4_21860012_AGA_POLM 1 1 0 - 0 G None ffc2a2e6-3299-11e6-8069-175325c9da85 12_8984331_GTG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 12 8984331 GT G 660 PASS A2ML1 Del intronic 1 9 MSH6 child 12_8984331_GTG_MSH6 1 1 1 T 8 T Repeat-mediated ffcc2530-3255-11e6-9f9d-2c7a7872c165 12_20017273_TTA . HAP1_MSH6_30-18 HAP1_parental_75_WT_DNA 12 20017273 T TA 720 PASS RP11-405A12.2 Ins intronic 1 1 MSH6 child 12_20017273_TTA_MSH6 1 1 - - - - Ins ffd7cb40-329d-11e6-ae71-0c5325c9da85 1_240777049_GAG . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 240777049 GA G 600 PASS GREM2 Del upstream 1 9 MSH6 child 1_240777049_GAG_MSH6 1 1 1 A 8 A Repeat-mediated ffdbe62a-3294-11e6-a24b-ac3c7a852e0e 6_50401607_TCT . HAP1_CHK2_56-3 HAP1_parental_75_WT_DNA 6 50401607 TC T 420 PASS - Del - 1 2 CHK2 child 6_50401607_TCT_CHK2 1 1 1 C 1 C Repeat-mediated ffe50a54-328d-11e6-bc33-715238e8a824 2_31458315_CTC . HAP1_FANCC_27-4 HAP1_parental_75_WT_DNA 2 31458315 CT C 540 PASS EHD3 Del intronic 1 9 FANCC child 2_31458315_CTC_FANCC 1 1 1 T 8 T Repeat-mediated ffe62b2e-334a-11e6-a997-309d38e8a824 4_188165002_ATA . HAP1_FANCC_27-3 HAP1_parental_75_WT_DNA 4 188165002 AT A 300 PASS - Del - 1 9 FANCC child 4_188165002_ATA_FANCC 1 1 1 T 8 T Repeat-mediated ffea98be-3271-11e6-94a5-6c01ebb8d062 8_10158071_TTTTGTTCAGTAGAGATGGGGTTTCACCAGATTGGCCAGGCTACTCGAACTCCTGACCTCAGGTGATGCACCCTCCTCGGCCTCTCAAAGT . HAP1_NUDT1_41-11 HAP1_parental_75_WT_DNA 8 10158071 TTTTGTTCAGTAGAGATGGGGTTTCACCAGATTGGCCAGGCTACTCGAACTCCTGACCTCAGGTGATGCACCCTCCTCGGCCTCTCAAAG T 600 PASS MSRA Del intronic 89 1 NUDT1 child 8_10158071_TTTTGTTCAGTAGAGATGGGGTTTCACCAGATTGGCCAGGCTACTCGAACTCCTGACCTCAGGTGATGCACCCTCCTCGGCCTCTCAAAGT_NUDT1 89 >=10 2 TT 0 - Microhomology-mediated ffeaad48-32a0-11e6-ae71-0c5325c9da85 1_168636292_GGT . HAP1_MSH6_30-4 HAP1_parental_75_WT_DNA 1 168636292 G GT 540 PASS - Ins - 1 8 MSH6 child 1_168636292_GGT_MSH6 1 1 - - - - Ins ffed0212-328e-11e6-919e-92c36f39e758 2_233004418_TTATAGGACAGAGGCCTCTTTGCTAAAAGAT . HAP1_MSH6_30-6 HAP1_parental_75_WT_DNA 2 233004418 TTATAGGACAGAGGCCTCTTTGCTAAAAGA T 540 PASS DIS3L2 Del intronic 29 1 MSH6 child 2_233004418_TTATAGGACAGAGGCCTCTTTGCTAAAAGAT_MSH6 29 >=10 1 T 0 - Microhomology-mediated fffcabda-3271-11e6-9210-65fa620e6611 5_9995366_TCAATATTGTGAAAATGGCCACT . HAP1_EXO1_40 HAP1_parental_75_WT_DNA 5 9995366 TCAATATTGTGAAAATGGCCAC T 498 PASS - Del - 21 1 EXO1 parent 5_9995366_TCAATATTGTGAAAATGGCCACT_EXO1 21 >=10 0 - 0 - None