Chr Begin End Ref Obs ref/alt(fre) quality_score depth gene_type Effect Mutation_type cytoBand snp137 1000g2012apr_asn ESP6500 Inhouse Gene_region Gene_symbol Gene_system SIFT SIFT_predict PolyPhen_2 PolyPhen_2_predict MutationTaster MutationTaster_predict GERP++ GERP++_predict Mutation_describtion chr1 884108 884108 - C 34/7(0.17) 247 41 het unknown insertion chr1 - - - 0.0833 intronic NOC2L Reference - - - - - - - - NOC2L chr1 948846 948846 - A 8/10(0.56) 536 18 het unknown insertion chr1 rs3841266 0.95 - 0.4118 upstream ISG15 Reference - - - - - - - - ISG15 chr1 978604 978605 CT - 0/43(1.00) 2332 43 hom unknown deletion chr1 rs138543546 0.78 0.399263 0.5368 intronic AGRN Reference - - - - - - - - AGRN chr1 984172 984173 AG - 0/18(1.00) 939 18 hom unknown deletion chr1 rs140904842 0.78 - 0.1373 intronic AGRN Reference - - - - - - - - AGRN chr1 1110987 1110987 - C 27/23(0.46) 1109 50 het unknown insertion chr1 - 0.12 - 0.1152 intronic TTLL10 Reference - - - - - - - - TTLL10 chr1 1163811 1163811 - GACA 48/47(0.49) 2634 95 het unknown insertion chr1 rs147694774 0.55 0.034919 0.3824 intronic SDF4 Reference - - - - - - - - SDF4 chr1 1276931 1276932 CA - 0/52(1.00) 2829 52 hom unknown deletion chr1 rs75244934 0.83 - 0.4240 intronic DVL1 Reference - - - - - - - - DVL1 chr1 1276973 1276973 - ACAC 0/94(1.00) 3070 94 hom unknown insertion chr1 rs145370195 - - 0.4804 intronic DVL1 Reference - - - - - - - - DVL1 chr1 1289368 1289369 TG - 0/41(1.00) 2221 41 hom unknown deletion chr1 rs140777846 - 0.874480 0.4534 intronic MXRA8 Reference - - - - - - - - MXRA8 chr1 1394664 1394664 C - 8/7(0.47) 228 15 het unknown deletion chr1 rs76548509 0.45 0.126246 0.3971 intronic ATAD3C Reference - - - - - - - - ATAD3C chr1 1510036 1510037 GC - 0/11(1.00) 565 11 hom unknown deletion chr1 rs150737039 0.85 - 0.2794 5-UTR SSU72 Reference - - - - - - - - SSU72 chr1 1566065 1566065 - G 9/2(0.18) 46 11 het unknown insertion chr1 - 0.25 - 0.0833 downstream MIB2 Reference - - - - - - - - MIB2 chr1 1647893 1647893 - TTTCTT 83/41(0.33) 2162 124 het nonframeshift insertion chr1 rs144636354 - - 0.4583 exonic CDK11A;CDK11B Reference - - - - - - - - CDK11A,NM_024011,exon5,c.379_380insAAGAAA,p.R127delinsKER;CDK11A,NM_033529,exon5,c.349_350insAAGAAA,p.R117delinsKER;CDK11B,NM_033489,exon6,c.277_278insAAGAAA,p.R93delinsKER;CDK11B,NM_033486,exon5,c.379_380insAAGAAA,p.R127delinsKER;CDK11B,NM_033492,exon5,c.346_347insAAGAAA,p.R116delinsKER;CDK11B,NM_033493,exon5,c.346_347insAAGAAA,p.R116delinsKER;CDK11B,NM_033488,exon6,c.244_245insAAGAAA,p.R82delinsKER chr1 1647968 1647968 - AT 31/11(0.26) 525 42 het unknown insertion chr1 rs146207119 - - 0.1373 intronic CDK11A;CDK11B Reference - - - - - - - - CDK11A;CDK11B chr1 1654066 1654068 GCG - 0/16(1.00) 841 16 hom unknown deletion chr1 rs35174499 0.76 0.640749 0.2794 5-UTR CDK11B Reference - - - - - - - - CDK11B chr1 1684347 1684347 - CCT 35/29(0.45) 1599 64 het nonframeshift insertion chr1 rs150880809 - - 0.2647 exonic NADK Reference - - - - - - - - NADK,NM_023018,exon12,c.1336_1337insAGG,p.G446delinsEG;NADK,NM_001198994,exon14,c.1771_1772insAGG,p.G591delinsEG;NADK,NM_001198995,exon10,c.1240_1241insAGG,p.G414delinsEG;NADK,NM_001198993,exon12,c.1336_1337insAGG,p.G446delinsEG chr1 1685922 1685943 CCCTGGGACCGAAGTCGCCCCA - 28/23(0.45) 1014 51 het unknown deletion chr1 rs139385870 0.32 - 0.1471 intronic NADK Reference - - - - - - - - NADK chr1 1690126 1690126 - AC 1/3(0.75) 137 4 het unknown insertion chr1 rs79655042 - - 0.3333 intronic NADK Reference - - - - - - - - NADK chr1 1850628 1850636 AGCGGCAGG - 4/3(0.43) 85 7 het nonframeshift deletion chr1 - - 0.278682 0.1348 exonic TMEM52 Reference - - - - - - - - TMEM52,NM_178545,exon1,c.69_77del,p.23_26del chr1 1887092 1887092 G - 17/5(0.23) 170 22 het frameshift deletion chr1 rs139735565 0.27 - 0.2304 exonic KIAA1751 Reference - - - - - - - - KIAA1751,NM_001080484,exon18,c.2214delC,p.G738fs chr1 1887112 1887112 C - 18/8(0.31) 255 26 het frameshift deletion chr1 rs3838975 0.26 0.219562 0.2745 exonic KIAA1751 Reference - - - - - - - - KIAA1751,NM_001080484,exon18,c.2194delG,p.A732fs chr1 1900106 1900106 - CTC 0/32(1.00) 1949 32 hom nonframeshift insertion chr1 rs145742571 - 0.220822 0.3578 exonic KIAA1751 Reference - - - - - - - - KIAA1751,NM_001080484,exon11,c.1212_1213insGAG,p.K405delinsEK chr1 1902368 1902368 - CA 12/7(0.37) 343 19 het unknown insertion chr1 - - - 0.0809 intronic KIAA1751 Reference - - - - - - - - KIAA1751 chr1 2118724 2118724 - T 6/7(0.54) 75 13 het unknown insertion chr1 - - - 0.0760 intronic C1orf86 Reference - - - - - - - - C1orf86 chr1 2530341 2530341 - G 0/13(1.00) 776 13 hom unknown insertion chr1 rs80303002 0.53 - 0.2647 intronic MMEL1 Reference - - - - - - - - MMEL1 chr1 3319602 3319632 CCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG - 3/3(0.50) 107 6 het unknown deletion chr1 - - 0.147220 0.0294 intronic PRDM16 Reference - - - - - - - - PRDM16 chr1 3350155 3350159 CGCGC - 13/7(0.35) 287 20 het unknown deletion chr1 - - - 0.0588 intronic PRDM16 Reference - - - - - - - - PRDM16 chr1 3395974 3395975 CC - 17/26(0.60) 876 43 het unknown deletion chr1 rs70938094 - - 0.3554 intronic ARHGEF16 Reference - - - - - - - - ARHGEF16 chr1 3418614 3418615 CG - 0/12(1.00) 620 12 hom unknown deletion chr1 rs139503756 - - 0.3039 intronic MEGF6 Reference - - - - - - - - MEGF6 chr1 3542106 3542106 - G 13/30(0.70) 1037 43 het unknown insertion chr1 - 0.32 0.283089 0.2672 intronic TPRG1L Reference - - - - - - - - TPRG1L chr1 3544236 3544236 A - 14/10(0.42) 335 24 het unknown deletion chr1 rs5772111 0.32 0.329420 0.3701 intronic TPRG1L Reference - - - - - - - - TPRG1L chr1 3563513 3563513 C - 11/13(0.54) 606 24 het unknown deletion chr1 rs34514629 0.50 - 0.2892 intronic WRAP73 Reference - - - - - - - - WRAP73 chr1 3566626 3566633 GCAGGCTG - 6/11(0.65) 515 17 het unknown deletion chr1 rs145464993 - 0.309524 0.2353 5-UTR WRAP73 Reference - - - - - - - - WRAP73 chr1 3640135 3640138 CTGC - 1/8(0.89) 361 9 het unknown deletion chr1 rs35939665 0.53 - 0.3676 intronic TP73 Reference - - - - - - - - TP73 chr1 3643465 3643465 - GATGGATGGGTG 5/4(0.44) 184 9 het unknown insertion chr1 rs149311741 - - 0.1691 intronic TP73 Reference - - - - - - - - TP73 chr1 3743433 3743433 - G 16/18(0.53) 934 34 het unknown insertion chr1 rs5772126 - - 0.3824 intronic CEP104 Reference - - - - - - - - CEP104 chr1 3788978 3788978 G - 25/17(0.40) 745 42 het unknown deletion chr1 rs149933818 - - 0.0882 intronic DFFB Reference - - - - - - - - DFFB chr1 3789249 3789256 TGTTGCCT - 33/5(0.13) 137 38 het unknown deletion chr1 - - - - intronic DFFB Reference - - - - - - - - DFFB chr1 3789268 3789271 AAGG - 19/4(0.17) 113 23 het unknown deletion chr1 - - - - intronic DFFB Reference - - - - - - - - DFFB chr1 6239937 6239937 - G 0/18(1.00) 1091 18 hom unknown insertion chr1 rs199614566 0.99 - 0.1691 intronic CHD5 Reference - - - - - - - - CHD5 chr1 6530965 6530965 - G 0/20(1.00) 1087 20 hom unknown insertion chr1 - - 0.998506 0.3824 intronic PLEKHG5 Reference - - - - - - - - PLEKHG5 chr1 6646960 6646968 CCTGCCTTC - 55/68(0.55) 3070 123 het unknown deletion chr1 rs147755718 0.58 - 0.4044 intronic ZBTB48 Reference - - - - - - - - ZBTB48 chr1 6700129 6700129 T - 10/3(0.23) 80 13 het unknown deletion chr1 - - - 0.0025 intronic DNAJC11 Reference - - - - - - - - DNAJC11 chr1 8029543 8029543 - C 4/3(0.43) 128 7 het unknown insertion chr1 rs141737779 0.08 - 0.0833 intronic PARK7 Reference - - - - - - - - PARK7 chr1 9006104 9006104 - C 1/6(0.86) 272 7 het unknown insertion chr1 rs5772343 0.24 - 0.2181 intronic CA6 Reference - - - - - - - - CA6 chr1 9034815 9034815 - AGA 16/29(0.64) 1652 45 het unknown insertion chr1 rs35753212 - 0.625080 0.3922 3-UTR CA6 Reference - - - - - - - - CA6 chr1 9085006 9085006 - GCCCACCTTGT 39/40(0.51) 2235 79 het unknown insertion chr1 rs148146441 - - 0.3015 intronic SLC2A7 Reference - - - - - - - - SLC2A7 chr1 9714538 9714538 - GA 0/14(1.00) 839 14 hom unknown insertion chr1 - - - 0.2770 ncRNA_exonic C1orf200 Reference - - - - - - - - C1orf200 chr1 9714541 9714541 - CA 0/14(1.00) 839 14 hom unknown insertion chr1 rs56235370 - 0.234847 0.2745 ncRNA_exonic C1orf200 Reference - - - - - - - - C1orf200 chr1 9714543 9714543 - CCCC 0/14(1.00) 839 14 hom unknown insertion chr1 rs55851927 - 0.278224 0.3309 ncRNA_exonic C1orf200 Reference - - - - - - - - C1orf200 chr1 9714544 9714544 - G 0/14(1.00) 839 14 hom unknown insertion chr1 rs55746245 - - 0.1299 ncRNA_exonic C1orf200 Reference - - - - - - - - C1orf200 chr1 9792105 9792105 - A 0/12(1.00) 293 12 hom unknown insertion chr1 - - - 0.3873 intronic CLSTN1 Reference - - - - - - - - CLSTN1 chr1 10132493 10132493 - T 8/6(0.43) 50 14 het unknown insertion chr1 - - - 0.2377 intronic UBE4B Reference - - - - - - - - UBE4B chr1 10339210 10339211 AT - 39/39(0.50) 1879 78 het unknown deletion chr1 rs35347635 0.31 - 0.3039 intronic KIF1B Reference - - - - - - - - KIF1B chr1 10384176 10384176 - TTGAAA 6/6(0.50) 299 12 het unknown insertion chr1 rs3831405 0.31 - 0.2990 intronic KIF1B Reference - - - - - - - - KIF1B chr1 10425118 10425118 T - 15/8(0.35) 126 23 het unknown deletion chr1 rs34161257 0.38 - 0.3260 intronic KIF1B Reference - - - - - - - - KIF1B chr1 10502308 10502308 T - 0/15(1.00) 299 15 hom unknown deletion chr1 rs33919161 - 0.892440 0.3873 intronic APITD1;APITD1-CORT Reference - - - - - - - - APITD1;APITD1-CORT chr1 11080723 11080723 - G 0/25(1.00) 1452 25 hom unknown insertion chr1 rs143130606 0.92 - 0.4216 intronic TARDBP Reference - - - - - - - - TARDBP chr1 11082055 11082055 G - 2/5(0.71) 215 7 het unknown deletion chr1 rs3835416 0.68 - 0.3015 intronic TARDBP Reference - - - - - - - - TARDBP chr1 11086097 11086097 - T 23/13(0.36) 670 36 het unknown insertion chr1 rs3215616 0.69 - 0.3480 downstream MASP2;TARDBP Reference - - - - - - - - TARDBP;MASP2 chr1 11133956 11133956 - G 2/7(0.78) 313 9 het unknown insertion chr1 - - - 0.0270 intronic EXOSC10 Reference - - - - - - - - EXOSC10 chr1 11140622 11140624 CAC - 3/3(0.50) 101 6 het unknown deletion chr1 - - - 0.0564 intronic EXOSC10 Reference - - - - - - - - EXOSC10 chr1 11593793 11593793 - GCACACACGCAC 0/39(1.00) 2189 39 hom unknown insertion chr1 rs113116961 - - 0.3848 intronic PTCHD2 Reference - - - - - - - - PTCHD2 chr1 11731928 11731928 G - 8/16(0.67) 303 24 het unknown deletion chr1 rs3215521 0.21 - 0.2377 intronic FBXO6 Reference - - - - - - - - FBXO6 chr1 11740330 11740341 GGCGTGAGCCAC - 27/22(0.45) 1028 49 het unknown deletion chr1 rs151210857 0.53 - 0.3260 intronic MAD2L2 Reference - - - - - - - - MAD2L2 chr1 11836316 11836322 AAGAAAC - 6/4(0.40) 151 10 het unknown deletion chr1 - - - 0.0490 intergenic AGTRAP;MTHFR Reference - - - - - - - - AGTRAP(dist=25488);MTHFR(dist=9465) chr1 11845168 11845170 TTA - 10/16(0.62) 765 26 het unknown deletion chr1 rs199890035 0.12 - 0.0907 downstream MTHFR Reference - - - - - - - - MTHFR chr1 11847334 11847334 - GAA 4/3(0.43) 128 7 het unknown insertion chr1 rs35134728 0.81 - 0.3505 3-UTR MTHFR Reference - - - - - - - - MTHFR chr1 11862764 11862764 - T 2/3(0.60) 99 5 het unknown insertion chr1 rs55645287 0.10 - 0.0980 intronic MTHFR Reference - - - - - - - - MTHFR chr1 11886383 11886383 - TG 21/27(0.56) 1513 48 het unknown insertion chr1 rs138460149 0.10 - 0.0882 intronic CLCN6 Reference - - - - - - - - CLCN6 chr1 11887373 11887373 - G 4/3(0.43) 49 7 het unknown insertion chr1 rs78178972 - - 0.3799 intronic CLCN6 Reference - - - - - - - - CLCN6 chr1 11887374 11887374 - A 3/3(0.50) 96 6 het unknown insertion chr1 - 0.82 - 0.0833 intronic CLCN6 Reference - - - - - - - - CLCN6 chr1 11917618 11917618 - T 5/5(0.50) 229 10 het unknown insertion chr1 rs3831247 0.12 - 0.1127 3-UTR NPPB Reference - - - - - - - - NPPB chr1 12004493 12004493 - AA 9/8(0.47) 413 17 het unknown insertion chr1 rs200129470 0.13 - 0.1569 intronic PLOD1 Reference - - - - - - - - PLOD1 chr1 12252334 12252341 TGTGTGTG - 6/3(0.33) 99 9 het unknown deletion chr1 rs142196145 - - 0.0637 intronic TNFRSF1B Reference - - - - - - - - TNFRSF1B chr1 12888601 12888601 - C 0/16(1.00) 861 16 hom unknown insertion chr1 - - - 0.5490 5-UTR PRAMEF11 Reference - - - - - - - - PRAMEF11 chr1 13910742 13910744 GGA - 5/8(0.62) 362 13 het unknown deletion chr1 rs150088145 0.13 - 0.1397 intronic PDPN Reference - - - - - - - - PDPN chr1 14106394 14106394 - CTC 59/62(0.51) 3070 121 het nonframeshift insertion chr1 rs2308040 0.62 0.470133 0.5907 exonic PRDM2 Reference - - - - - - - - PRDM2,NM_001007257,exon3,c.1501_1502insCTC,p.T501delinsTP;PRDM2,NM_012231,exon8,c.2104_2105insCTC,p.T702delinsTP;PRDM2,NM_015866,exon8,c.2104_2105insCTC,p.T702delinsTP chr1 15710494 15710495 AT - 0/14(1.00) 666 14 hom unknown deletion chr1 rs3831918 - - 0.1446 intronic FHAD1 Reference - - - - - - - - FHAD1 chr1 15769876 15769876 - C 0/42(1.00) 2468 42 hom unknown insertion chr1 rs79878581 - - 0.5245 intronic CTRC Reference - - - - - - - - CTRC chr1 15783097 15783097 A - 0/83(1.00) 1850 83 hom unknown deletion chr1 rs5772641 0.97 - 0.3922 upstream CELA2A Reference - - - - - - - - CELA2A chr1 15783117 15783117 - A 0/111(1.00) 3070 111 hom unknown insertion chr1 - 0.98 - 0.3971 upstream CELA2A Reference - - - - - - - - CELA2A chr1 15909625 15909632 GAGTACAG - 7/8(0.53) 356 15 het unknown deletion chr1 rs111921608 0.60 - 0.3799 intronic AGMAT Reference - - - - - - - - AGMAT chr1 15910811 15910811 - T 2/3(0.60) 40 5 het unknown insertion chr1 - 0.60 - 0.2402 intronic AGMAT Reference - - - - - - - - AGMAT chr1 16011005 16011005 - GGC 4/10(0.71) 543 14 het unknown insertion chr1 - - - 0.0907 5-UTR PLEKHM2 Reference - - - - - - - - PLEKHM2 chr1 16011018 16011020 GGT - 14/6(0.30) 228 20 het unknown deletion chr1 - - - - 5-UTR PLEKHM2 Reference - - - - - - - - PLEKHM2 chr1 16346009 16346009 - C 20/15(0.43) 537 35 het unknown insertion chr1 rs3841842 - - 0.4069 upstream HSPB7 Reference - - - - - - - - HSPB7 chr1 16373200 16373202 CTT - 0/114(1.00) 3070 114 hom unknown deletion chr1 rs35820664 0.98 0.642252 0.5368 intronic CLCNKB Reference - - - - - - - - CLCNKB chr1 16376230 16376230 - T 0/37(1.00) 2287 37 hom unknown insertion chr1 rs59006537 - - 0.4461 intronic CLCNKB Reference - - - - - - - - CLCNKB chr1 16376239 16376239 C - 0/42(1.00) 1500 42 hom unknown deletion chr1 rs34589727 0.99 - 0.4485 intronic CLCNKB Reference - - - - - - - - CLCNKB chr1 16382828 16382830 TCT - 1/131(0.99) 3070 132 hom unknown deletion chr1 rs77508204 - - 0.4828 intronic CLCNKB Reference - - - - - - - - CLCNKB chr1 16958545 16958545 - C 6/7(0.54) 316 13 het unknown insertion chr1 rs113787707 - - 0.2892 intergenic CROCCP2;MST1P2 Reference - - - - - - - - CROCCP2(dist=1144);MST1P2(dist=13524) chr1 16959732 16959732 - GGGCCTGCAGCA 10/6(0.38) 288 16 het unknown insertion chr1 rs112000683 - - 0.2549 intergenic CROCCP2;MST1P2 Reference - - - - - - - - CROCCP2(dist=2331);MST1P2(dist=12337) chr1 17026043 17026043 - GCA 16/29(0.64) 1474 45 het unknown insertion chr1 - - - 0.3039 ncRNA_exonic ESPNP Reference - - - - - - - - ESPNP chr1 17034456 17034463 GCGCGCGT - 22/9(0.29) 366 31 het unknown deletion chr1 rs140689885 - - 0.2402 ncRNA_exonic ESPNP Reference - - - - - - - - ESPNP chr1 17060009 17060027 TTTTCTTTTCTTTTCTTTT - 1/4(0.80) 146 5 het unknown deletion chr1 rs142398385 - - 0.0417 downstream LOC729574 Reference - - - - - - - - LOC729574 chr1 17084537 17084542 GGAACA - 102/20(0.16) 709 122 het nonframeshift deletion chr1 rs142741624 - - 0.3309 exonic MST1L Reference - - - - - - - - MST1L,NM_001271733,exon12,c.1556_1561del,p.519_521del chr1 17087245 17087245 C - 116/20(0.15) 354 136 het splicing deletion chr1 rs58502471 - - 0.3995 splicing MST1L Reference - - - - - - - - MST1L(NM_001271733,exon4,c.338+1G>-) chr1 17087542 17087546 GTGCT - 110/38(0.26) 1622 148 het frameshift deletion chr1 rs113982165 - - 0.3799 exonic MST1L Reference - - - - - - - - MST1L,NM_001271733,exon2,c.119_123del,p.40_41del chr1 17313245 17313256 CCCAGGGCTCCT - 4/2(0.33) 53 6 het unknown deletion chr1 rs143483351 0.53 - 0.3848 intronic ATP13A2 Reference - - - - - - - - ATP13A2 chr1 17718672 17718672 G - 0/72(1.00) 3070 72 hom splicing deletion chr1 rs10709483 - 0.999577 0.5074 splicing PADI6 Reference - - - - - - - - NM_207421,exon10,c.1026-1G>-) chr1 17720687 17720687 G - 27/34(0.56) 1017 61 het unknown deletion chr1 rs34075690 0.55 - 0.3725 intronic PADI6 Reference - - - - - - - - PADI6 chr1 17723476 17723476 - CA 3/3(0.50) 131 6 het unknown insertion chr1 rs144056968 - - 0.1520 intronic PADI6 Reference - - - - - - - - PADI6 chr1 19071184 19071195 ATGGATGGATGG - 13/4(0.24) 129 17 het unknown deletion chr1 - - - 0.0025 intronic PAX7 Reference - - - - - - - - PAX7 chr1 19201211 19201211 - G 3/4(0.57) 191 7 het unknown insertion chr1 rs35163726 0.67 - 0.3382 intronic ALDH4A1 Reference - - - - - - - - ALDH4A1 chr1 19208145 19208145 - GGTTGCCT 0/26(1.00) 1594 26 hom unknown insertion chr1 rs112548638 - 0.972369 0.4755 intronic ALDH4A1 Reference - - - - - - - - ALDH4A1 chr1 19476346 19476346 C - 44/29(0.40) 1036 73 het unknown deletion chr1 - - - - intronic UBR4 Reference - - - - - - - - UBR4 chr1 19567894 19567895 AC - 1/9(0.90) 427 10 het unknown deletion chr1 rs141040353 0.64 - 0.2696 intronic EMC1 Reference - - - - - - - - EMC1 chr1 20915590 20915590 C - 25/26(0.51) 968 51 het unknown deletion chr1 rs3215400 0.44 0.583613 0.4387 5-UTR CDA Reference - - - - - - - - CDA chr1 20979307 20979307 - T 33/26(0.44) 1252 59 het unknown insertion chr1 rs34089130 0.44 0.567162 0.3971 intronic DDOST Reference - - - - - - - - DDOST chr1 21011622 21011622 - GACA 60/86(0.59) 3070 146 het unknown insertion chr1 rs147992129 - - 0.3382 intronic KIF17 Reference - - - - - - - - KIF17 chr1 21073993 21073993 - A 0/15(1.00) 902 15 hom unknown insertion chr1 rs146665007 0.41 0.042725 0.2917 intronic HP1BP3 Reference - - - - - - - - HP1BP3 chr1 21930836 21930836 - A 4/5(0.56) 134 9 het unknown insertion chr1 rs11404331 0.32 - 0.2230 intronic RAP1GAP Reference - - - - - - - - RAP1GAP chr1 21935885 21935885 A - 5/9(0.64) 33 14 het unknown deletion chr1 rs34097078 - - 0.3186 intronic RAP1GAP Reference - - - - - - - - RAP1GAP chr1 22207805 22207817 CCCAGGGTGGCAG - 0/40(1.00) 2166 40 hom unknown deletion chr1 rs139046040 0.98 0.955495 0.5441 intronic HSPG2 Reference - - - - - - - - HSPG2 chr1 22329042 22329042 C - 32/8(0.20) 198 40 het unknown deletion chr1 rs71016961 - - 0.1127 intronic CELA3A Reference - - - - - - - - CELA3A chr1 22447645 22447645 - TG 0/17(1.00) 1028 17 hom unknown insertion chr1 rs41420150 - - 0.4902 intronic WNT4 Reference - - - - - - - - WNT4 chr1 22985840 22985843 GATG - 1/3(0.75) 113 4 het unknown deletion chr1 rs140338008 - - 0.2941 intronic C1QB Reference - - - - - - - - C1QB chr1 23107833 23107833 G - 14/3(0.18) 75 17 het unknown deletion chr1 - - - - intronic EPHB2 Reference - - - - - - - - EPHB2 chr1 23954126 23954126 - AC 7/5(0.42) 239 12 het unknown insertion chr1 rs34020220 - - 0.3235 ncRNA_intronic MDS2 Reference - - - - - - - - MDS2 chr1 23966894 23966894 - AAG 17/16(0.48) 865 33 het unknown insertion chr1 rs3072132 0.41 - 0.3186 ncRNA_exonic MDS2 Reference - - - - - - - - MDS2 chr1 24082286 24082286 T - 19/15(0.44) 525 34 het unknown deletion chr1 - - - 0.0270 intronic TCEB3 Reference - - - - - - - - TCEB3 chr1 24106510 24106510 - T 0/25(1.00) 1202 25 hom unknown insertion chr1 rs3831910 0.83 - 0.3578 intronic PITHD1 Reference - - - - - - - - PITHD1 chr1 24389510 24389511 AA - 0/11(1.00) 448 11 hom unknown deletion chr1 rs67138023 0.95 - 0.3554 intronic MYOM3 Reference - - - - - - - - MYOM3 chr1 25780889 25780889 - TG 2/13(0.87) 705 15 het unknown insertion chr1 rs141203814 - - 0.3309 intronic TMEM57 Reference - - - - - - - - TMEM57 chr1 26085049 26085049 G - 1/78(0.99) 2786 79 hom unknown deletion chr1 rs11321223 0.99 - 0.5368 intronic MAN1C1 Reference - - - - - - - - MAN1C1 chr1 26158355 26158355 - GAT 2/7(0.78) 374 9 het unknown insertion chr1 - - - 0.0147 intronic MTFR1L Reference - - - - - - - - MTFR1L chr1 26358752 26358752 - A 0/67(1.00) 3070 67 hom unknown insertion chr1 rs5773143 0.93 - 0.4167 intronic EXTL1 Reference - - - - - - - - EXTL1 chr1 27995517 27995520 CGCA - 3/32(0.91) 1614 35 het unknown deletion chr1 - - - 0.2525 intronic IFI6 Reference - - - - - - - - IFI6 chr1 27995521 27995533 TCCTTACCCGCAC TGCAC het unknown substitution chr1 - - - - intronic IFI6 Reference - - - - - - - - IFI6 chr1 27995522 27995533 CCTTACCCGCAC - 1/32(0.97) 82 33 het unknown deletion chr1 - - - 0.0343 intronic IFI6 Reference - - - - - - - - IFI6 chr1 28148667 28148667 A - 6/8(0.57) 290 14 het unknown deletion chr1 - - - - intronic STX12 Reference - - - - - - - - STX12 chr1 28268829 28268829 - C 42/38(0.47) 1435 80 het unknown insertion chr1 - - - 0.2647 intronic SMPDL3B Reference - - - - - - - - SMPDL3B chr1 28323719 28323719 G - 15/20(0.57) 959 35 het unknown deletion chr1 rs3831309 0.24 - 0.2181 intronic EYA3 Reference - - - - - - - - EYA3 chr1 28995254 28995254 - GGC 5/3(0.38) 125 8 het unknown insertion chr1 rs35229620 - - 0.0809 5-UTR GMEB1 Reference - - - - - - - - GMEB1 chr1 29345009 29345009 - TT 0/12(1.00) 713 12 hom unknown insertion chr1 rs5773229 - - 0.4020 intronic EPB41 Reference - - - - - - - - EPB41 chr1 29609503 29609503 G - 0/35(1.00) 1245 35 hom unknown deletion chr1 rs111595207 - 0.288017 0.4461 intronic PTPRU Reference - - - - - - - - PTPRU chr1 29631236 29631236 - TA 1/238(1.00) 3070 239 hom unknown insertion chr1 rs3831903 0.84 0.492572 0.4191 intronic PTPRU Reference - - - - - - - - PTPRU chr1 31478641 31478650 AGAGAGAGAG - 12/9(0.43) 55 21 het unknown deletion chr1 - - - - intronic PUM1 Reference - - - - - - - - PUM1 chr1 31478639 31478650 AGAGAGAGAGAG - 12/9(0.43) 55 21 het unknown deletion chr1 - - - - intronic PUM1 Reference - - - - - - - - PUM1 chr1 31882582 31882582 - GCCTCA 0/17(1.00) 1028 17 hom unknown insertion chr1 rs113179499 - - 0.3725 5-UTR SERINC2 Reference - - - - - - - - SERINC2 chr1 31905889 31905889 - CAG 22/36(0.62) 2000 58 het nonframeshift insertion chr1 rs3050461 - 0.824361 0.5760 exonic SERINC2 Reference - - - - - - - - SERINC2,NM_178865,exon9,c.1089_1090insCAG,p.T363delinsTQ;SERINC2,NM_001199039,exon10,c.924_925insCAG,p.T308delinsTQ;SERINC2,NM_001199037,exon9,c.1101_1102insCAG,p.T367delinsTQ;SERINC2,NM_018565,exon9,c.1101_1102insCAG,p.T367delinsTQ;SERINC2,NM_001199038,exon10,c.1116_1117insCAG,p.T372delinsTQ chr1 32655958 32655960 TCC - 3/5(0.62) 209 8 het unknown deletion chr1 rs10551696 0.22 - 0.1985 intronic TXLNA Reference - - - - - - - - TXLNA chr1 32658062 32658062 - GT 0/23(1.00) 1391 23 hom unknown insertion chr1 rs79952364 - 0.713099 0.5000 intronic TXLNA Reference - - - - - - - - TXLNA chr1 33060835 33060835 T - 11/17(0.61) 372 28 het unknown deletion chr1 rs11327743 - 0.129612 0.0907 intronic ZBTB8A Reference - - - - - - - - ZBTB8A chr1 33252100 33252122 CACATGCATGACTATTCCTAGCC - 38/24(0.39) 1048 62 het unknown deletion chr1 rs149745059 - 0.112800 0.0441 intronic YARS Reference - - - - - - - - YARS chr1 33799658 33799658 - A 17/16(0.48) 259 33 het unknown insertion chr1 - - - - intronic PHC2 Reference - - - - - - - - PHC2 chr1 33954470 33954470 G - 6/7(0.54) 247 13 het unknown deletion chr1 rs3838985 0.75 - 0.3848 intronic ZSCAN20 Reference - - - - - - - - ZSCAN20 chr1 33999175 33999175 T - 2/3(0.60) 55 5 het unknown deletion chr1 rs35879676 0.37 - 0.2623 intronic CSMD2 Reference - - - - - - - - CSMD2 chr1 34043170 34043170 C - 0/35(1.00) 1107 35 hom unknown deletion chr1 rs11291100 - - 0.4020 intronic CSMD2 Reference - - - - - - - - CSMD2 chr1 34189958 34189958 G - 0/21(1.00) 856 21 hom unknown deletion chr1 rs11346874 - - 0.5490 intronic CSMD2 Reference - - - - - - - - CSMD2 chr1 34330537 34330537 - GGA 0/12(1.00) 713 12 hom unknown insertion chr1 - - - 0.0490 intronic CSMD2 Reference - - - - - - - - CSMD2 chr1 35449270 35449270 - A 6/3(0.33) 53 9 het unknown insertion chr1 - 0.38 - 0.2500 intronic ZMYM6NB Reference - - - - - - - - ZMYM6NB chr1 35470650 35470650 - CT 12/4(0.25) 163 16 het unknown insertion chr1 rs112324624 0.38 - 0.2843 intronic ZMYM6 Reference - - - - - - - - ZMYM6 chr1 35657811 35657812 AT - 16/9(0.36) 382 25 het unknown deletion chr1 rs142470364 0.48 0.018362 0.1740 intronic SFPQ Reference - - - - - - - - SFPQ chr1 36023660 36023660 T - 12/20(0.62) 212 32 het unknown deletion chr1 rs112310803 - - 0.2328 5-UTR NCDN Reference - - - - - - - - NCDN chr1 36316414 36316415 CG - 19/3(0.14) 53 22 het unknown deletion chr1 - - - - intronic AGO4 Reference - - - - - - - - AGO4 chr1 36551270 36551270 - C 3/3(0.50) 121 6 het unknown insertion chr1 - 0.28 - 0.2108 intronic TEKT2 Reference - - - - - - - - TEKT2 chr1 36640689 36640714 CCAGGTCCCTGGAGCCCTCACATACT - 10/4(0.29) 142 14 het unknown deletion chr1 rs142415462 - - 0.1299 intronic MAP7D1 Reference - - - - - - - - MAP7D1 chr1 36644432 36644432 - GGCG 7/11(0.61) 598 18 het unknown insertion chr1 rs142470160 - 0.122465 0.1789 intronic MAP7D1 Reference - - - - - - - - MAP7D1 chr1 36884530 36884530 G - 6/4(0.40) 85 10 het unknown deletion chr1 rs202052052 - - 0.2304 intronic OSCP1 Reference - - - - - - - - OSCP1 chr1 36888302 36888302 - T 15/9(0.38) 71 24 het unknown insertion chr1 - - - 0.3137 intronic OSCP1 Reference - - - - - - - - OSCP1 chr1 36929660 36929660 - TCTCCCCTACTCCTGTGCTTCCT 39/47(0.55) 2659 86 het unknown insertion chr1 - - - 0.2206 intronic MRPS15 Reference - - - - - - - - MRPS15 chr1 38018052 38018056 TTTAA - 3/4(0.57) 160 7 het unknown deletion chr1 - - - - intronic SNIP1 Reference - - - - - - - - SNIP1 chr1 38173984 38173986 TTC - 0/121(1.00) 3070 121 hom unknown deletion chr1 rs145033890 0.68 - 0.5147 intronic CDCA8 Reference - - - - - - - - CDCA8 chr1 38304469 38304469 C - 9/4(0.31) 175 13 het unknown deletion chr1 - - - 0.0123 intronic MTF1 Reference - - - - - - - - MTF1 chr1 38332073 38332080 CTCTCTCA - 0/6(1.00) 219 6 het unknown deletion chr1 - - - - intronic INPP5B Reference - - - - - - - - INPP5B chr1 38332073 38332082 CTCTCTCACA - 0/6(1.00) 219 6 het unknown deletion chr1 - - 0.201005 - intronic INPP5B Reference - - - - - - - - INPP5B chr1 38332075 38332082 CTCTCACA - 0/8(1.00) 199 8 het unknown deletion chr1 rs149926262 - 0.099549 0.2181 intronic INPP5B Reference - - - - - - - - INPP5B chr1 39494666 39494666 - T 20/12(0.38) 41 32 het unknown insertion chr1 - - - 0.2083 intronic NDUFS5 Reference - - - - - - - - NDUFS5 chr1 39927492 39927492 C - 9/1(0.10) 32 10 het unknown deletion chr1 - - - - intronic MACF1 Reference - - - - - - - - MACF1 chr1 39988238 39988238 - G 21/5(0.19) 180 26 het unknown insertion chr1 - - - 0.0858 ncRNA_intronic PPIEL Reference - - - - - - - - PPIEL chr1 39988914 39988915 AG - 21/15(0.42) 680 36 het unknown deletion chr1 rs148144829 0.33 - 0.3284 ncRNA_intronic PPIEL Reference - - - - - - - - PPIEL chr1 40253768 40253768 - A 0/14(1.00) 839 14 hom unknown insertion chr1 rs60164088 0.45 - 0.3505 intronic BMP8B Reference - - - - - - - - BMP8B chr1 40363760 40363767 TAGATATA - 5/7(0.58) 310 12 het unknown deletion chr1 rs11279387 0.42 - 0.3431 intronic MYCL Reference - - - - - - - - MYCL chr1 40536074 40536074 - T 0/85(1.00) 3070 85 hom unknown insertion chr1 rs58190778 - 0.993020 0.5466 intronic CAP1 Reference - - - - - - - - CAP1 chr1 40781176 40781176 G - 20/7(0.26) 266 27 het unknown deletion chr1 rs111700365 - - 0.3848 intronic COL9A2 Reference - - - - - - - - COL9A2 chr1 40840270 40840270 - GC 7/32(0.82) 1727 39 het unknown insertion chr1 - 0.80 - 0.2157 intronic SMAP2 Reference - - - - - - - - SMAP2 chr1 41298546 41298546 - C 0/13(1.00) 624 13 hom unknown insertion chr1 rs11421426 - - 0.4216 intronic KCNQ4 Reference - - - - - - - - KCNQ4 chr1 41453287 41453287 T - 15/20(0.57) 786 35 het unknown deletion chr1 rs5773721 0.92 - 0.4289 intronic CTPS1 Reference - - - - - - - - CTPS1 chr1 42647569 42647570 CT - 14/3(0.18) 75 17 het unknown deletion chr1 rs150006846 - - 0.0025 intronic FOXJ3 Reference - - - - - - - - FOXJ3 chr1 43301022 43301023 CC - 2/3(0.60) 73 5 het unknown deletion chr1 rs59816087 0.40 - 0.2721 intronic ERMAP Reference - - - - - - - - ERMAP chr1 43771017 43771017 A - 0/37(1.00) 1610 37 hom unknown deletion chr1 rs3831248 0.86 0.656045 0.4975 intronic TIE1 Reference - - - - - - - - TIE1 chr1 43911163 43911164 CC - 2/3(0.60) 44 5 het unknown deletion chr1 rs141508822 0.45 - 0.2672 intronic SZT2 Reference - - - - - - - - SZT2 chr1 43998398 43998398 T - 0/24(1.00) 748 24 hom unknown deletion chr1 rs11350891 - - 0.4167 intronic PTPRF Reference - - - - - - - - PTPRF chr1 44119038 44119038 - T 7/12(0.63) 330 19 het unknown insertion chr1 rs144374696 0.39 - 0.3554 intronic KDM4A Reference - - - - - - - - KDM4A chr1 44125963 44125963 A - 18/17(0.49) 538 35 het unknown deletion chr1 rs3215843 0.48 - 0.3382 intronic KDM4A Reference - - - - - - - - KDM4A chr1 44258024 44258024 - GT 4/5(0.56) 248 9 het unknown insertion chr1 rs71579311 0.52 - 0.3039 intronic ST3GAL3 Reference - - - - - - - - ST3GAL3 chr1 44303678 44303678 - C 3/2(0.40) 71 5 het unknown insertion chr1 - 0.14 - - intronic ST3GAL3 Reference - - - - - - - - ST3GAL3 chr1 44386761 44386761 A - 2/3(0.60) 85 5 het unknown deletion chr1 rs3835022 0.14 - 0.0784 intronic ST3GAL3 Reference - - - - - - - - ST3GAL3 chr1 44595995 44595995 - C 0/15(1.00) 549 15 hom unknown insertion chr1 rs35084281 0.44 - 0.3848 intronic KLF17 Reference - - - - - - - - KLF17 chr1 45223902 45223909 ATTAGCTG - 0/19(1.00) 1006 19 hom unknown deletion chr1 rs146438625 0.50 - 0.2990 intronic KIF2C Reference - - - - - - - - KIF2C chr1 45270790 45270790 - AAAG 1/5(0.83) 226 6 het unknown insertion chr1 rs34617431 - - 0.1373 intronic PLK3 Reference - - - - - - - - PLK3 chr1 45472799 45472806 TGTGTGTG - 0/12(1.00) 571 12 hom unknown deletion chr1 rs147908761 - - 0.3284 intronic HECTD3 Reference - - - - - - - - HECTD3 chr1 45485711 45485711 G - 0/52(1.00) 2038 52 hom unknown deletion chr1 rs3831961 0.10 0.057023 0.1544 intronic ZSWIM5 Reference - - - - - - - - ZSWIM5 chr1 46050005 46050008 TCGG - 0/13(1.00) 675 13 hom unknown deletion chr1 rs57257530 - - 0.3554 intronic NASP Reference - - - - - - - - NASP chr1 46347879 46347879 T - 0/12(1.00) 496 12 hom unknown deletion chr1 rs201525530 0.99 - 0.2770 intronic MAST2 Reference - - - - - - - - MAST2 chr1 47014821 47014821 - AAAG 31/6(0.16) 222 37 het unknown insertion chr1 - - - 0.0294 ncRNA_intronic MKNK1-AS1 Reference - - - - - - - - MKNK1-AS1 chr1 47014830 47014830 - G 6/40(0.87) 2046 46 het unknown insertion chr1 - - - 0.1961 ncRNA_intronic MKNK1-AS1 Reference - - - - - - - - MKNK1-AS1 chr1 47014832 47014832 - AAAG 6/49(0.89) 2366 55 het unknown insertion chr1 - - - 0.2108 ncRNA_intronic MKNK1-AS1 Reference - - - - - - - - MKNK1-AS1 chr1 47015489 47015490 TA - 0/35(1.00) 1892 35 hom unknown deletion chr1 rs56849633 - - 0.2647 ncRNA_intronic MKNK1-AS1 Reference - - - - - - - - MKNK1-AS1 chr1 47015492 47015492 C - 0/34(1.00) 1836 34 hom unknown deletion chr1 rs199854360 0.28 - 0.2623 ncRNA_intronic MKNK1-AS1 Reference - - - - - - - - MKNK1-AS1 chr1 47051714 47051714 A - 23/24(0.51) 1125 47 het unknown deletion chr1 rs200676612 0.02 - 0.0392 intronic MKNK1 Reference - - - - - - - - MKNK1 chr1 47110766 47110766 - C 7/9(0.56) 479 16 het unknown insertion chr1 rs5773919 0.58 - 0.3922 intronic ATPAF1 Reference - - - - - - - - ATPAF1 chr1 47124204 47124204 - A 0/13(1.00) 692 13 hom unknown insertion chr1 - 0.78 - 0.3505 intronic ATPAF1 Reference - - - - - - - - ATPAF1 chr1 47402488 47402489 TG - 1/5(0.83) 94 6 het unknown deletion chr1 rs67515839 - - 0.0098 intronic CYP4A11 Reference - - - - - - - - CYP4A11 chr1 47402488 47402491 TGTG - 1/5(0.83) 94 6 het unknown deletion chr1 rs67512144 - - 0.3946 intronic CYP4A11 Reference - - - - - - - - CYP4A11 chr1 47402488 47402493 TGTGTG - 1/5(0.83) 94 6 het unknown deletion chr1 - - - 0.0196 intronic CYP4A11 Reference - - - - - - - - CYP4A11 chr1 47550246 47550246 - A 0/13(1.00) 692 13 hom unknown insertion chr1 rs201981953 0.97 0.266975 0.4020 intronic CYP4Z1 Reference - - - - - - - - CYP4Z1 chr1 47571944 47571946 TTT - 0/44(1.00) 303 44 hom unknown deletion chr1 rs149137568 - 0.352322 0.4216 intronic CYP4Z1 Reference - - - - - - - - CYP4Z1 chr1 47581390 47581390 A - 18/15(0.45) 461 33 het unknown deletion chr1 rs201976453 0.05 - 0.0588 intronic CYP4Z1 Reference - - - - - - - - CYP4Z1 chr1 47603034 47603034 T - 5/8(0.62) 293 13 het unknown deletion chr1 rs34164833 0.93 - 0.4363 upstream CYP4A22 Reference - - - - - - - - CYP4A22 chr1 47610224 47610224 G - 229/104(0.31) 3070 333 het frameshift deletion chr1 rs201802480 0.05 - 0.0686 exonic CYP4A22 Reference - - - - - - - - CYP4A22,NM_001010969,exon8,c.900delG,p.M300fs chr1 48698546 48698551 AAAGAA - 1/4(0.80) 165 5 het unknown deletion chr1 rs144726435 0.18 - 0.1593 intronic SLC5A9 Reference - - - - - - - - SLC5A9 chr1 48698594 48698597 AAAG - 1/3(0.75) 113 4 het unknown deletion chr1 rs200400686 0.34 - 0.1887 intronic SLC5A9 Reference - - - - - - - - SLC5A9 chr1 49208095 49208095 - G 1/3(0.75) 137 4 het unknown insertion chr1 rs56653741 0.31 - 0.1789 intronic AGBL4;BEND5 Reference - - - - - - - - AGBL4;BEND5 chr1 50956164 50956167 AAGG - 1/57(0.98) 3006 58 hom unknown deletion chr1 rs143167159 - - 0.3529 intronic FAF1 Reference - - - - - - - - FAF1 chr1 50956212 50956212 - AAATACAGTGG 0/108(1.00) 3070 108 hom unknown insertion chr1 rs149582773 - 0.991852 0.4338 intronic FAF1 Reference - - - - - - - - FAF1 chr1 52306064 52306066 TCT - 0/42(1.00) 2187 42 hom nonframeshift deletion chr1 rs35723519 0.92 - 0.4289 exonic NRD1 Reference - - - - - - - - NRD1,NM_002525,exon2,c.462_464del,p.154_155del;NRD1,NM_001101662,exon2,c.462_464del,p.154_155del;NRD1,NM_001242361,exon2,c.66_68del,p.22_23del chr1 53553639 53553657 CCTGCCCCTGGAGGCCTCG - 7/4(0.36) 149 11 het unknown deletion chr1 rs140025278 0.23 0.043624 0.1814 3-UTR SLC1A7 Reference - - - - - - - - SLC1A7 chr1 54605318 54605318 - G 0/34(1.00) 515 34 het frameshift insertion chr1 rs200136238 - - 0.1422 exonic CDCP2 Reference - - - - - - - - CDCP2,NM_201546,exon4,c.1224dupC,p.M409fs chr1 54605318 54605318 - GG 0/34(1.00) 515 34 het frameshift insertion chr1 - - - 0.2745 exonic CDCP2 Reference - - - - - - - - CDCP2,NM_201546,exon4,c.1224_1225insCC,p.M409fs chr1 54692854 54692854 - G 3/4(0.57) 37 7 het unknown insertion chr1 - - - 0.0098 intronic SSBP3 Reference - - - - - - - - SSBP3 chr1 54871709 54871709 - CGCCGC 5/12(0.71) 664 17 het unknown insertion chr1 - - - 0.0294 5-UTR SSBP3 Reference - - - - - - - - SSBP3 chr1 55080613 55080616 GTGT - 0/26(1.00) 1363 26 hom unknown deletion chr1 rs147772009 - - 0.3358 intronic ACOT11;FAM151A Reference - - - - - - - - ACOT11;FAM151A chr1 55281132 55281133 CC - 4/4(0.50) 122 8 het unknown deletion chr1 rs145750607 0.44 - 0.2451 intronic C1orf177 Reference - - - - - - - - C1orf177 chr1 55518191 55518191 C - 0/21(1.00) 599 21 hom unknown deletion chr1 rs45597632 - - 0.4681 intronic PCSK9 Reference - - - - - - - - PCSK9 chr1 55545452 55545466 GAGTACTCACACACT - 1/3(0.75) 113 4 het unknown deletion chr1 - - - - intronic USP24 Reference - - - - - - - - USP24 chr1 55643838 55643838 A - 0/17(1.00) 685 17 hom unknown deletion chr1 rs11350615 0.99 0.851568 0.3848 intronic USP24 Reference - - - - - - - - USP24 chr1 59134607 59134607 - AG 0/38(1.00) 2350 38 hom unknown insertion chr1 rs57822474 - - 0.4093 intronic MYSM1 Reference - - - - - - - - MYSM1 chr1 60228310 60228310 - TC 0/39(1.00) 2413 39 hom unknown insertion chr1 rs149130693 - 0.807219 0.4265 3-UTR FGGY Reference - - - - - - - - FGGY chr1 60280750 60280750 T - 0/80(1.00) 3070 80 hom unknown deletion chr1 rs113730234 - 0.999636 0.3480 5-UTR HOOK1 Reference - - - - - - - - HOOK1 chr1 61892301 61892301 - G 0/91(1.00) 3070 91 hom unknown insertion chr1 rs5774558 - - 0.4485 intronic NFIA Reference - - - - - - - - NFIA chr1 62329886 62329886 T - 2/6(0.75) 134 8 het unknown deletion chr1 rs35853578 0.14 0.418238 0.1569 intronic INADL Reference - - - - - - - - INADL chr1 62417951 62417951 - G 8/3(0.27) 113 11 het unknown insertion chr1 - - - 0.2426 intronic INADL Reference - - - - - - - - INADL chr1 63027412 63027412 G - 0/21(1.00) 1117 21 hom unknown deletion chr1 rs5774610 - 0.971449 0.3701 intronic DOCK7 Reference - - - - - - - - DOCK7 chr1 63912564 63912568 CAATT - 13/6(0.32) 235 19 het unknown deletion chr1 rs3838450 0.44 0.299488 0.3260 intronic ITGB3BP Reference - - - - - - - - ITGB3BP chr1 65099700 65099700 G - 6/7(0.54) 235 13 het unknown deletion chr1 rs5774714 - 0.051418 0.0343 intronic CACHD1 Reference - - - - - - - - CACHD1 chr1 65129234 65129234 A - 7/12(0.63) 32 19 het unknown deletion chr1 rs11289872 - - 0.2721 intronic CACHD1 Reference - - - - - - - - CACHD1 chr1 65131893 65131893 A - 2/2(0.50) 41 4 het unknown deletion chr1 rs10713356 0.72 0.194649 0.3064 intronic CACHD1 Reference - - - - - - - - CACHD1 chr1 66102755 66102755 - TTACT 6/5(0.45) 242 11 het unknown insertion chr1 rs70940806 0.09 - 0.0686 3-UTR LEPR Reference - - - - - - - - LEPR chr1 66831256 66831256 - A 27/19(0.41) 957 46 het unknown insertion chr1 rs144339850 0.04 - 0.1078 intronic PDE4B Reference - - - - - - - - PDE4B chr1 67138878 67138878 G - 0/42(1.00) 2276 42 hom unknown deletion chr1 rs35377023 0.49 - 0.3652 intronic SGIP1 Reference - - - - - - - - SGIP1 chr1 67160938 67160938 - AAAAAAAAAA 0/14(1.00) 166 14 hom unknown insertion chr1 - - - 0.0074 intronic SGIP1 Reference - - - - - - - - SGIP1 chr1 67487375 67487380 CCAACA - 0/22(1.00) 1178 22 hom unknown deletion chr1 - - - 0.2206 intronic SLC35D1 Reference - - - - - - - - SLC35D1 chr1 67487394 67487395 AG - 3/14(0.82) 589 17 het unknown deletion chr1 rs72331230 - - 0.0662 intronic SLC35D1 Reference - - - - - - - - SLC35D1 chr1 67508081 67508084 CACT - 0/43(1.00) 2332 43 hom unknown deletion chr1 rs10546548 0.51 - 0.3578 intronic SLC35D1 Reference - - - - - - - - SLC35D1 chr1 70034370 70034370 - CAGCCGCGTG 0/39(1.00) 2326 39 hom unknown insertion chr1 rs11280966 0.85 - 0.3480 intergenic DEPDC1;LRRC7 Reference - - - - - - - - DEPDC1(dist=1071571);LRRC7(dist=191488) chr1 70502414 70502414 T - 2/5(0.71) 215 7 het unknown deletion chr1 rs59671095 0.14 - 0.1103 intronic LRRC7 Reference - - - - - - - - LRRC7 chr1 70503691 70503691 G - 26/23(0.47) 1083 49 het unknown deletion chr1 rs58669710 0.10 - 0.0858 intronic LRRC7 Reference - - - - - - - - LRRC7 chr1 70614106 70614110 AAAAC - 3/6(0.67) 264 9 het unknown deletion chr1 rs140082221 0.28 - 0.1961 intronic LRRC40 Reference - - - - - - - - LRRC40 chr1 70904523 70904523 - TGTG 18/13(0.42) 536 31 het unknown insertion chr1 - - - 0.2451 intronic CTH Reference - - - - - - - - CTH chr1 71544080 71544082 AAG - 17/18(0.51) 849 35 het unknown deletion chr1 rs10574763 0.32 - 0.2843 intronic ZRANB2 Reference - - - - - - - - ZRANB2 chr1 75037858 75037860 CCT - 53/44(0.45) 2086 97 het nonframeshift deletion chr1 rs10539747 0.21 0.081536 0.2647 exonic C1orf173 Reference - - - - - - - - C1orf173,NM_001002912,exon14,c.3534_3536del,p.1178_1179del chr1 75132462 75132462 - A 1/24(0.96) 607 25 hom unknown insertion chr1 rs76649713 - - 0.3627 intronic C1orf173 Reference - - - - - - - - C1orf173 chr1 75172757 75172757 A - 1/32(0.97) 352 33 hom unknown deletion chr1 - - - 0.3211 intronic CRYZ Reference - - - - - - - - CRYZ chr1 75614381 75614381 T - 29/25(0.46) 118 54 het unknown deletion chr1 - - - 0.1814 intronic LHX8 Reference - - - - - - - - LHX8 chr1 76194230 76194230 T - 0/21(1.00) 856 21 hom unknown deletion chr1 rs11316888 0.98 - 0.3824 intronic ACADM Reference - - - - - - - - ACADM chr1 76261033 76261034 TT - 11/12(0.52) 332 23 het unknown deletion chr1 rs140203456 - - 0.0221 downstream RABGGTB Reference - - - - - - - - RABGGTB chr1 76346920 76346920 - AT 0/24(1.00) 1468 24 hom unknown insertion chr1 rs5745466 - 0.955911 0.4289 intronic MSH4 Reference - - - - - - - - MSH4 chr1 78024345 78024345 - TAT 5/8(0.62) 425 13 het nonframeshift insertion chr1 rs79671213 0.72 0.640632 0.4583 exonic AK5 Reference - - - - - - - - AK5,NM_012093,exon14,c.1601_1602insTAT,p.S534delinsSI;AK5,NM_174858,exon14,c.1679_1680insTAT,p.S560delinsSI chr1 78033982 78033986 AAATG - 9/8(0.47) 351 17 het unknown deletion chr1 rs145860524 0.62 0.601025 0.3113 intronic ZZZ3 Reference - - - - - - - - ZZZ3 chr1 78177214 78177215 AC - 1/3(0.75) 114 4 het unknown deletion chr1 rs66475824 - - 0.2451 intronic USP33 Reference - - - - - - - - USP33 chr1 78430689 78430689 - G 0/66(1.00) 3070 66 hom unknown insertion chr1 rs77529143 - - 0.4289 intronic FUBP1 Reference - - - - - - - - FUBP1 chr1 78601465 78601465 - T 0/21(1.00) 620 21 hom unknown insertion chr1 - 0.78 0.247005 0.3848 3-UTR GIPC2 Reference - - - - - - - - GIPC2 chr1 79128570 79128570 - T 46/48(0.51) 2697 94 het unknown insertion chr1 - 0.39 0.451126 0.3627 intronic IFI44 Reference - - - - - - - - IFI44 chr1 84355735 84355748 AGAACTTCAAGGAT - 48/27(0.36) 1231 75 het unknown deletion chr1 rs71826512 - - 0.2377 ncRNA_intronic MIR548AP Reference - - - - - - - - MIR548AP chr1 84876711 84876711 - A 0/81(1.00) 3070 81 hom unknown insertion chr1 - 0.60 0.518759 0.3971 intronic DNASE2B Reference - - - - - - - - DNASE2B chr1 85331808 85331808 - AGA 0/57(1.00) 3070 57 hom unknown insertion chr1 rs146269415 - 0.779508 0.4020 5-UTR LPAR3 Reference - - - - - - - - LPAR3 chr1 85559119 85559119 T - 0/56(1.00) 1806 56 hom unknown deletion chr1 rs11304107 0.56 0.646725 0.4044 intronic WDR63 Reference - - - - - - - - WDR63 chr1 85573705 85573705 - C 0/11(1.00) 583 11 het unknown insertion chr1 rs11427716 - - 0.2525 intronic WDR63 Reference - - - - - - - - WDR63 chr1 85573705 85573705 - CT 0/11(1.00) 583 11 het unknown insertion chr1 - - - 0.0833 intronic WDR63 Reference - - - - - - - - WDR63 chr1 85590114 85590117 ATTT - 4/4(0.50) 157 8 het unknown deletion chr1 rs141412863 0.19 - 0.1691 intronic WDR63 Reference - - - - - - - - WDR63 chr1 85598528 85598528 C - 1/46(0.98) 1271 47 hom unknown deletion chr1 rs5775826 - - 0.4951 intronic WDR63 Reference - - - - - - - - WDR63 chr1 85598679 85598679 - A 58/31(0.35) 938 89 het frameshift insertion chr1 rs145165915 0.12 0.047357 0.2108 exonic WDR63 Reference - - - - - - - - WDR63,NM_145172,exon23,c.2675dupA,p.X892delinsX chr1 86210241 86210241 - T 0/15(1.00) 726 15 hom unknown insertion chr1 rs34348459 0.94 - 0.3603 intronic COL24A1 Reference - - - - - - - - COL24A1 chr1 86372839 86372839 - G 0/22(1.00) 740 22 hom unknown insertion chr1 rs78422287 - - 0.3211 intronic COL24A1 Reference - - - - - - - - COL24A1 chr1 86487992 86487992 - ACAG 28/25(0.47) 1343 53 het unknown insertion chr1 rs5775882 - 0.699398 0.4559 intronic COL24A1 Reference - - - - - - - - COL24A1 chr1 86554813 86554813 - A 10/4(0.29) 60 14 het unknown insertion chr1 - - 0.365217 0.1520 intronic COL24A1 Reference - - - - - - - - COL24A1 chr1 87045897 87045902 CCTACA - 0/175(1.00) 3070 175 hom nonframeshift deletion chr1 rs4001061 0.72 - 0.4559 exonic CLCA4 Reference - - - - - - - - CLCA4,NM_012128,exon14,c.2629_2634del,p.877_878del chr1 87538183 87538184 TG - 0/34(1.00) 1817 34 hom unknown deletion chr1 rs34124612 0.96 - 0.3775 intronic HS2ST1 Reference - - - - - - - - HS2ST1 chr1 89476441 89476444 CTCC - 20/20(0.50) 944 40 het unknown deletion chr1 rs68075525 0.50 - 0.2525 intronic GBP3 Reference - - - - - - - - GBP3 chr1 89520330 89520335 AAAAAC - 0/73(1.00) 3070 73 hom unknown deletion chr1 rs150126543 0.35 0.433717 0.3284 intronic GBP1 Reference - - - - - - - - GBP1 chr1 89845927 89845927 T - 1/74(0.99) 1845 75 hom unknown deletion chr1 rs67367078 - 0.898130 0.4387 intronic GBP6 Reference - - - - - - - - GBP6 chr1 91967142 91967142 - C 0/31(1.00) 1909 31 hom unknown insertion chr1 rs78219884 0.25 - 0.2402 intronic CDC7 Reference - - - - - - - - CDC7 chr1 92712599 92712600 AA - 0/101(1.00) 3070 101 hom unknown deletion chr1 rs35752451 0.96 0.450487 0.4387 intronic GLMN Reference - - - - - - - - GLMN chr1 93998641 93998641 T - 0/32(1.00) 1447 32 hom unknown deletion chr1 rs34814765 0.63 0.473214 0.3627 intronic FNBP1L Reference - - - - - - - - FNBP1L chr1 94041787 94041787 - AC 1/28(0.97) 1669 29 hom unknown insertion chr1 rs25569 - - 0.4877 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312482 94312482 - C 0/85(1.00) 3070 85 hom unknown insertion chr1 rs5776191 - 0.999467 0.3015 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312528 94312528 - C 0/40(1.00) 2476 40 hom unknown insertion chr1 - - 0.998592 0.1642 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312533 94312533 - C 0/39(1.00) 2413 39 hom unknown insertion chr1 rs202198870 0.98 0.997674 0.1544 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312542 94312542 - C 1/32(0.97) 1926 33 hom unknown insertion chr1 - - 0.999640 0.1250 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312544 94312544 - C 0/32(1.00) 1972 32 hom unknown insertion chr1 - - 0.999207 0.1250 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312558 94312558 - C 13/7(0.35) 328 20 het unknown insertion chr1 - - - 0.1054 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312560 94312567 GGCTGGGT - 7/12(0.63) 545 19 het unknown deletion chr1 - - - 0.0392 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312571 94312571 - C 11/5(0.31) 227 16 het unknown insertion chr1 - - - 0.0392 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312573 94312573 - C 0/5(1.00) 233 5 het unknown insertion chr1 - - - 0.0662 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312574 94312577 CGGC - 0/12(1.00) 552 12 het unknown deletion chr1 - - - 0.0490 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312576 94312576 - C 0/5(1.00) 258 5 het unknown insertion chr1 - - - 0.0833 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94312579 94312579 - C 13/6(0.32) 284 19 het unknown insertion chr1 - - - 0.0368 intronic BCAR3 Reference - - - - - - - - BCAR3 chr1 94487286 94487287 AC - 16/17(0.52) 799 33 het unknown deletion chr1 rs199797077 0.47 0.149065 0.3652 intronic ABCA4 Reference - - - - - - - - ABCA4 chr1 94544327 94544327 T - 27/28(0.51) 1098 55 het unknown deletion chr1 rs3215952 0.59 - 0.4436 intronic ABCA4 Reference - - - - - - - - ABCA4 chr1 94544805 94544805 - CA 5/3(0.38) 101 8 het unknown insertion chr1 rs139796930 - - 0.2034 intronic ABCA4 Reference - - - - - - - - ABCA4 chr1 94643144 94643144 T - 22/26(0.54) 409 48 het unknown deletion chr1 - - 0.017894 0.0147 intronic ARHGAP29 Reference - - - - - - - - ARHGAP29 chr1 95360535 95360535 A - 14/13(0.48) 484 27 het unknown deletion chr1 rs145584562 0.09 - 0.0980 3-UTR SLC44A3 Reference - - - - - - - - SLC44A3 chr1 98349390 98349390 - A 1/22(0.96) 422 23 hom unknown insertion chr1 - - - 0.3750 intronic DPYD Reference - - - - - - - - DPYD chr1 99358430 99358430 - A 2/6(0.75) 101 8 het unknown insertion chr1 - 0.07 - 0.0564 3-UTR LPPR5 Reference - - - - - - - - LPPR5 chr1 99387628 99387628 - A 1/51(0.98) 1539 52 hom unknown insertion chr1 - - 0.727360 0.4363 intronic LPPR5 Reference - - - - - - - - LPPR5 chr1 99418948 99418948 - GTGTGA 6/5(0.45) 218 11 het unknown insertion chr1 - - - 0.0931 intronic LPPR5 Reference - - - - - - - - LPPR5 chr1 100750734 100750738 GTTTT - 0/37(1.00) 2000 37 hom unknown deletion chr1 rs58046505 - - 0.3922 intronic RTCA Reference - - - - - - - - RTCA chr1 103354939 103354939 - TGTGTGTG 6/5(0.45) 242 11 het unknown insertion chr1 - - - 0.0074 intronic COL11A1 Reference - - - - - - - - COL11A1 chr1 103471460 103471462 CAT - 2/45(0.96) 129 47 het unknown deletion chr1 - - - - intronic COL11A1 Reference - - - - - - - - COL11A1 chr1 103471457 103471462 CATCAT - 2/45(0.96) 129 47 het unknown deletion chr1 - - - - intronic COL11A1 Reference - - - - - - - - COL11A1 chr1 103487395 103487395 T - 0/40(1.00) 770 40 hom unknown deletion chr1 rs35291481 - - 0.3922 intronic COL11A1 Reference - - - - - - - - COL11A1 chr1 103496806 103496806 A - 2/27(0.93) 318 29 hom unknown deletion chr1 - - - 0.4191 intronic COL11A1 Reference - - - - - - - - COL11A1 chr1 108160261 108160261 A - 42/27(0.39) 220 69 het unknown deletion chr1 rs5776894 - 0.382188 0.2770 intronic VAV3 Reference - - - - - - - - VAV3 chr1 109302589 109302589 - T 0/31(1.00) 850 31 hom unknown insertion chr1 - - - 0.0784 intronic STXBP3 Reference - - - - - - - - STXBP3 chr1 109339415 109339415 T - 0/19(1.00) 285 19 hom unknown deletion chr1 rs35138668 - - 0.3578 intronic STXBP3 Reference - - - - - - - - STXBP3 chr1 109377158 109377158 A - 2/47(0.96) 616 49 hom unknown deletion chr1 rs5776950 - - 0.3824 intronic AKNAD1 Reference - - - - - - - - AKNAD1 chr1 109486241 109486241 A - 1/90(0.99) 3070 91 hom unknown deletion chr1 rs3215062 0.41 0.508066 0.3799 intronic CLCC1 Reference - - - - - - - - CLCC1 chr1 109529322 109529322 - AA 0/17(1.00) 1028 17 hom unknown insertion chr1 rs78487462 - 0.981458 0.3627 intronic WDR47 Reference - - - - - - - - WDR47 chr1 109608871 109608874 ACTT - 0/16(1.00) 841 16 hom unknown deletion chr1 rs3217403 0.11 0.129117 0.1225 intronic TAF13 Reference - - - - - - - - TAF13 chr1 109740306 109740306 - GAGAGA 11/6(0.35) 283 17 het unknown insertion chr1 - - 0.189708 0.0049 intronic KIAA1324 Reference - - - - - - - - KIAA1324 chr1 109779621 109779621 - C 0/13(1.00) 776 13 hom unknown insertion chr1 - 0.91 - 0.3505 intronic SARS Reference - - - - - - - - SARS chr1 109792735 109792735 - CGC 12/12(0.50) 573 24 het nonframeshift insertion chr1 rs144034706 0.53 0.621885 0.3333 exonic CELSR2 Reference - - - - - - - - CELSR2,NM_001408,exon1,c.34_35insCGC,p.T12delinsTP chr1 109813237 109813250 TCCCAGTCTTGGGG - 56/41(0.42) 1934 97 het unknown deletion chr1 rs111491315 - 0.358333 0.3848 intronic CELSR2 Reference - - - - - - - - CELSR2 chr1 109883576 109883576 - AT 0/30(1.00) 1846 30 hom unknown insertion chr1 rs3217347 - - 0.4706 intronic SORT1 Reference - - - - - - - - SORT1 chr1 110009655 110009655 C - 0/28(1.00) 987 28 hom unknown deletion chr1 rs138525393 0.95 0.635450 0.3137 intronic SYPL2 Reference - - - - - - - - SYPL2 chr1 110172346 110172346 - G 0/21(1.00) 912 21 hom unknown insertion chr1 - - - 0.4804 intronic AMPD2 Reference - - - - - - - - AMPD2 chr1 110301767 110301770 GTGT - 2/5(0.71) 215 7 het unknown deletion chr1 - - - 0.2328 intronic EPS8L3 Reference - - - - - - - - EPS8L3 chr1 110558276 110558276 - C 0/21(1.00) 1279 21 hom unknown insertion chr1 rs11384766 - - 0.3725 intronic AHCYL1 Reference - - - - - - - - AHCYL1 chr1 110603286 110603286 - GGTGCTTCCTCCGTGGTGTCCAGGCAGG 36/15(0.29) 604 51 het unknown insertion chr1 rs144523285 - - 0.1103 3-UTR ALX3 Reference - - - - - - - - ALX3 chr1 111059813 111059814 GA - 50/8(0.14) 214 58 het unknown deletion chr1 - - - 0.0074 downstream KCNA10 Reference - - - - - - - - KCNA10 chr1 111144860 111144860 T - 2/5(0.71) 86 7 het unknown deletion chr1 rs75305356 0.38 - 0.2647 intronic KCNA2 Reference - - - - - - - - KCNA2 chr1 111739771 111739771 - CAGGACAAA 0/82(1.00) 3070 82 hom unknown insertion chr1 rs3833538 - 0.475817 0.3897 intronic DENND2D Reference - - - - - - - - DENND2D chr1 111833488 111833488 - CT 0/57(1.00) 3070 57 hom unknown insertion chr1 rs34698010 0.69 - 0.3431 5-UTR CHIA Reference - - - - - - - - CHIA chr1 111858526 111858541 AAATATAAGAATAAGA - 0/19(1.00) 1006 19 hom unknown deletion chr1 - - - 0.1103 intronic CHIA Reference - - - - - - - - CHIA chr1 111858543 111858556 ACTATCCTTGGCTT - 0/19(1.00) 1006 19 hom unknown deletion chr1 - - - 0.1176 intronic CHIA Reference - - - - - - - - CHIA chr1 111893794 111893794 - TG 13/12(0.48) 575 25 het unknown insertion chr1 rs200431449 0.14 - 0.0907 intronic PIFO Reference - - - - - - - - PIFO chr1 112240038 112240038 - T 40/17(0.30) 61 57 het unknown insertion chr1 rs34219774 - - 0.1250 intronic RAP1A Reference - - - - - - - - RAP1A chr1 113161511 113161513 AGG - 9/11(0.55) 507 20 het unknown deletion chr1 - - - 0.0270 intronic ST7L Reference - - - - - - - - ST7L chr1 113255686 113255686 - TG 1/5(0.83) 257 6 het unknown insertion chr1 rs147819439 - - 0.2230 intronic PPM1J Reference - - - - - - - - PPM1J chr1 113659066 113659067 CT - 33/41(0.55) 2001 74 het unknown deletion chr1 rs10541977 0.96 0.764974 0.4436 intronic LRIG2 Reference - - - - - - - - LRIG2 chr1 114133023 114133023 T - 2/3(0.60) 44 5 het unknown deletion chr1 rs59211723 0.36 - 0.2451 intronic MAGI3 Reference - - - - - - - - MAGI3 chr1 114240319 114240319 - A 43/34(0.44) 1869 77 het unknown insertion chr1 rs3835263 - 0.785338 0.2892 3-UTR PHTF1 Reference - - - - - - - - PHTF1 chr1 114339956 114339956 - TAAA 10/7(0.41) 349 17 het unknown insertion chr1 rs34169583 0.38 0.790849 0.2696 intronic RSBN1 Reference - - - - - - - - RSBN1 chr1 114940633 114940633 A - 1/9(0.90) 77 10 het unknown deletion chr1 rs5777192 - - 0.3775 intronic TRIM33 Reference - - - - - - - - TRIM33 chr1 115316998 115316998 A - 20/12(0.38) 174 32 het unknown deletion chr1 rs142475097 - - 0.2255 intronic SIKE1 Reference - - - - - - - - SIKE1 chr1 115398045 115398045 C - 0/24(1.00) 749 24 hom unknown deletion chr1 rs60659641 0.97 0.992649 0.4020 intronic SYCP1 Reference - - - - - - - - SYCP1 chr1 115486864 115486866 TCT - 2/3(0.60) 111 5 het unknown deletion chr1 rs3835701 0.06 - 0.0637 intronic SYCP1 Reference - - - - - - - - SYCP1 chr1 116609127 116609127 C - 0/71(1.00) 2997 71 hom unknown deletion chr1 rs3833541 0.76 0.624869 0.4216 intronic SLC22A15 Reference - - - - - - - - SLC22A15 chr1 118550552 118550552 - A 15/7(0.32) 312 22 het unknown insertion chr1 - 0.29 - 0.2574 intronic SPAG17 Reference - - - - - - - - SPAG17 chr1 118623684 118623687 ACAC - 0/7(1.00) 285 7 het unknown deletion chr1 - - 0.085479 - intronic SPAG17 Reference - - - - - - - - SPAG17 chr1 118623682 118623687 ACACAC - 0/7(1.00) 285 7 het unknown deletion chr1 rs72288918 - 0.487846 0.1176 intronic SPAG17 Reference - - - - - - - - SPAG17 chr1 120381686 120381686 - T 0/13(1.00) 776 13 hom unknown insertion chr1 - - - 0.3162 intronic NBPF7 Reference - - - - - - - - NBPF7 chr1 120381687 120381687 - TGAGTCAC 0/13(1.00) 776 13 hom unknown insertion chr1 - - - 0.3603 intronic NBPF7 Reference - - - - - - - - NBPF7 chr1 120612040 120612040 - CCTCCGCCG 16/15(0.48) 791 31 het unknown insertion chr1 - - 0.019636 0.1838 5-UTR NOTCH2 Reference - - - - - - - - NOTCH2 chr1 142690565 142690565 - TG 1/3(0.75) 137 4 het unknown insertion chr1 - - - 0.0098 intergenic NONE;ANKRD20A12P Reference - - - - - - - - NONE(dist=NONE);ANKRD20A12P(dist=6856) chr1 144880206 144880206 C - 1/4(0.80) 131 5 het unknown deletion chr1 rs5777486 - - 0.2426 intronic LOC100288142;NBPF9;PDE4DIP Reference - - - - - - - - PDE4DIP;NBPF9;LOC100288142 chr1 144915624 144915624 G - 18/9(0.33) 376 27 het frameshift deletion chr1 rs66512216 0.39 0.128256 0.3652 exonic PDE4DIP Reference - - - - - - - - PDE4DIP,NM_001002811,exon10,c.2290delC,p.L764fs;PDE4DIP,NM_001198834,exon14,c.1801delC,p.L601fs;PDE4DIP,NM_014644,exon14,c.1801delC,p.L601fs;PDE4DIP,NM_001002812,exon14,c.1801delC,p.L601fs;PDE4DIP,NM_001198832,exon17,c.1999delC,p.L667fs chr1 144923729 144923729 T - 125/103(0.45) 3070 228 het frameshift deletion chr1 rs3215779 - - 0.4191 exonic PDE4DIP Reference - - - - - - - - PDE4DIP,NM_001002811,exon2,c.1218delA,p.E406fs;PDE4DIP,NM_001198834,exon6,c.729delA,p.E243fs;PDE4DIP,NM_014644,exon6,c.729delA,p.E243fs;PDE4DIP,NM_001002812,exon6,c.729delA,p.E243fs;PDE4DIP,NM_001198832,exon9,c.927delA,p.E309fs chr1 144923824 144923837 AGGAAGAAACGGCA - 1/151(0.99) 3070 152 hom unknown deletion chr1 rs11268079 - 0.826614 0.5588 intronic LOC100288142;NBPF9;PDE4DIP Reference - - - - - - - - PDE4DIP;NBPF9;LOC100288142 chr1 145016032 145016032 - A 73/85(0.54) 1868 158 het unknown insertion chr1 - - - 0.4755 intronic LOC100288142;NBPF9;PDE4DIP Reference - - - - - - - - PDE4DIP;NBPF9;LOC100288142 chr1 145075355 145075355 - GAGACC 9/6(0.40) 292 15 het unknown insertion chr1 rs112704108 - - 0.2966 intronic LOC100288142;NBPF9;PDE4DIP Reference - - - - - - - - PDE4DIP;NBPF9;LOC100288142 chr1 145104053 145104054 GT - 46/14(0.23) 554 60 het unknown deletion chr1 rs68054255 - 0.431485 0.3137 intronic LOC100288142;NBPF9;SEC22B Reference - - - - - - - - NBPF9;SEC22B;LOC100288142 chr1 145115659 145115666 ATTTTTAA - 33/17(0.34) 751 50 het unknown deletion chr1 rs199836026 - - 0.3064 intronic LOC100288142;NBPF9;SEC22B Reference - - - - - - - - NBPF9;SEC22B;LOC100288142 chr1 145116147 145116147 - A 1/3(0.75) 137 4 het unknown insertion chr1 rs113058116 - - 0.2500 3-UTR SEC22B Reference - - - - - - - - SEC22B chr1 145208967 145208967 G - 5/2(0.29) 49 7 het unknown deletion chr1 rs141116280 - - 0.0245 intronic LOC100288142;NBPF9 Reference - - - - - - - - NBPF9;LOC100288142 chr1 145209613 145209632 CCCCGCCAACCGCCGGGGTT - 21/13(0.38) 578 34 het unknown deletion chr1 - - - 0.1544 intronic LOC100288142;NBPF9;NOTCH2NL Reference - - - - - - - - NBPF9;LOC100288142;NOTCH2NL chr1 145456733 145456733 A - 60/32(0.35) 95 92 het unknown deletion chr1 - - - 0.0686 intronic LOC100288142;NBPF10;POLR3GL Reference - - - - - - - - LOC100288142;POLR3GL;NBPF10 chr1 145532995 145532995 T - 14/16(0.53) 339 30 het unknown deletion chr1 rs34834904 - - 0.1765 intronic ITGA10;LOC100288142;NBPF10 Reference - - - - - - - - LOC100288142;NBPF10;ITGA10 chr1 146728162 146728162 - A 0/55(1.00) 3070 55 hom unknown insertion chr1 - - 0.954705 0.4142 intronic CHD1L Reference - - - - - - - - CHD1L chr1 146766069 146766069 - AT 0/35(1.00) 2161 35 hom unknown insertion chr1 rs71083827 - 0.954480 0.4338 intronic CHD1L Reference - - - - - - - - CHD1L chr1 147381397 147381397 - A 31/13(0.30) 54 44 het unknown insertion chr1 - - - 0.3407 downstream GJA8 Reference - - - - - - - - GJA8 chr1 147411014 147411014 - A 9/7(0.44) 46 16 het unknown insertion chr1 - - - - intronic GPR89B Reference - - - - - - - - GPR89B chr1 150284494 150284494 A - 2/4(0.67) 128 6 het unknown deletion chr1 rs60639251 0.69 - 0.3088 intergenic MRPS21;PRPF3 Reference - - - - - - - - PRPF3(dist=9434);MRPS21(dist=3080) chr1 150389965 150389965 A - 6/9(0.60) 120 15 het unknown deletion chr1 rs11362082 - - 0.2525 intronic RPRD2 Reference - - - - - - - - RPRD2 chr1 150432871 150432873 GTT - 3/4(0.57) 136 7 het unknown deletion chr1 rs72430251 - - 0.2083 intronic RPRD2 Reference - - - - - - - - RPRD2 chr1 150459693 150459693 A - 4/5(0.56) 166 9 het unknown deletion chr1 rs3840449 0.23 - 0.1936 upstream TARS2 Reference - - - - - - - - TARS2 chr1 150528090 150528090 - ACAC 0/15(1.00) 902 15 hom unknown insertion chr1 rs146160043 - - 0.4191 intronic ADAMTSL4 Reference - - - - - - - - ADAMTSL4 chr1 150529322 150529322 - AA 0/22(1.00) 1342 22 hom unknown insertion chr1 rs34379037 - - 0.4951 intronic ADAMTSL4 Reference - - - - - - - - ADAMTSL4 chr1 150530266 150530268 GCT - 0/19(1.00) 1006 19 hom unknown deletion chr1 rs71815576 0.21 - 0.2181 intronic ADAMTSL4 Reference - - - - - - - - ADAMTSL4 chr1 150530271 150530273 GCC - 0/19(1.00) 1006 19 hom unknown deletion chr1 - - - 0.2181 intronic ADAMTSL4 Reference - - - - - - - - ADAMTSL4 chr1 150550019 150550019 - A 0/23(1.00) 1405 23 hom unknown insertion chr1 rs11428742 - - 0.4167 intronic MCL1 Reference - - - - - - - - MCL1 chr1 150990466 150990466 - AT 11/10(0.48) 526 21 het unknown insertion chr1 rs140940332 0.45 - 0.2843 intronic PRUNE Reference - - - - - - - - PRUNE chr1 151070253 151070253 A - 9/17(0.65) 86 26 het unknown deletion chr1 rs35034487 - - 0.3578 intronic GABPB2 Reference - - - - - - - - GABPB2 chr1 151212399 151212399 - CTT 0/24(1.00) 1468 24 hom unknown insertion chr1 rs141190258 0.65 - 0.4167 intronic PIP5K1A Reference - - - - - - - - PIP5K1A chr1 151237590 151237590 C - 0/22(1.00) 683 22 hom unknown deletion chr1 rs3216063 - 0.689757 0.3750 intronic PSMD4 Reference - - - - - - - - PSMD4 chr1 151374153 151374158 CTTACA - 0/69(1.00) 3070 69 hom unknown deletion chr1 rs72135104 0.45 0.038443 0.3676 intronic PSMB4 Reference - - - - - - - - PSMB4 chr1 151380508 151380511 GAAG - 2/6(0.75) 286 8 het unknown deletion chr1 - - - 0.0074 intronic POGZ Reference - - - - - - - - POGZ chr1 151552302 151552302 G - 1/3(0.75) 114 4 het unknown deletion chr1 rs3833527 0.41 - 0.2623 intronic TUFT1 Reference - - - - - - - - TUFT1 chr1 151554471 151554474 CCTC - 16/10(0.38) 435 26 het unknown deletion chr1 rs143483175 0.31 - 0.2843 3-UTR TUFT1 Reference - - - - - - - - TUFT1 chr1 151634512 151634512 - T 8/14(0.64) 393 22 het unknown insertion chr1 rs3831367 - - 0.3382 intronic SNX27 Reference - - - - - - - - SNX27 chr1 151665562 151665562 - T 42/51(0.55) 993 93 het unknown insertion chr1 - - - 0.3309 intronic SNX27 Reference - - - - - - - - SNX27 chr1 151665858 151665858 T - 32/21(0.40) 960 53 het unknown deletion chr1 rs3215299 0.31 0.067881 0.3603 intronic SNX27 Reference - - - - - - - - SNX27 chr1 151742551 151742556 GAGAGA - 22/24(0.52) 1093 46 het unknown deletion chr1 - - - 0.1593 intronic OAZ3 Reference - - - - - - - - OAZ3 chr1 151742566 151742588 GGAGACCATGGGGAGACGGAGAC - 42/27(0.39) 1202 69 het unknown deletion chr1 rs140076465 - - 0.0417 intronic OAZ3 Reference - - - - - - - - OAZ3 chr1 151743871 151743871 A - 1/4(0.80) 131 5 het unknown deletion chr1 rs3833528 0.23 - 0.1936 downstream OAZ3;TDRKH Reference - - - - - - - - TDRKH;OAZ3 chr1 151752317 151752317 - C 4/6(0.60) 235 10 het unknown insertion chr1 - - - - intronic TDRKH Reference - - - - - - - - TDRKH chr1 151789588 151789588 - TGTGTG 1/3(0.75) 121 4 het unknown insertion chr1 - - - 0.0539 intronic RORC Reference - - - - - - - - RORC chr1 151789588 151789588 - TGTGTGTG 1/3(0.75) 121 4 het unknown insertion chr1 rs151171878 - - 0.2868 intronic RORC Reference - - - - - - - - RORC chr1 152084657 152084657 - CTC 73/13(0.15) 435 86 het nonframeshift insertion chr1 - - - 0.0025 exonic TCHH Reference - - - - - - - - TCHH,NM_007113,exon3,c.1035_1036insGAG,p.R346delinsER chr1 152195729 152195729 T - 0/60(1.00) 1153 60 hom frameshift deletion chr1 - - - 0.5956 exonic HRNR Reference - - - - - - - - HRNR,NM_001009931,exon2,c.1delA,p.M1fs chr1 152280524 152280528 TGGAG - 37/13(0.26) 530 50 het frameshift deletion chr1 - - - - exonic FLG Reference - - - - - - - - FLG,NM_002016,exon3,c.6834_6838del,p.2278_2280del chr1 152681680 152681680 - AGCTCTGGGGGCTGCTGT 60/58(0.49) 3070 118 het nonframeshift insertion chr1 rs6143428 - - 0.4559 exonic LCE4A Reference - - - - - - - - LCE4A,NM_178356,exon1,c.129_130insAGCTCTGGGGGCTGCTGT,p.S43delinsSSSGGCC chr1 153190590 153190590 - T 12/9(0.43) 217 21 het unknown insertion chr1 - 0.07 - 0.1078 intronic PRR9 Reference - - - - - - - - PRR9 chr1 153233488 153233488 - GGCGGT 25/21(0.46) 1056 46 het nonframeshift insertion chr1 rs150026164 0.09 0.267681 0.0809 exonic LOR Reference - - - - - - - - LOR,NM_000427,exon2,c.63_64insGGCGGT,p.G21delinsGGG chr1 153233991 153233991 - CTCTGGCGGCGG 14/6(0.30) 275 20 het nonframeshift insertion chr1 rs11275959 - 0.600649 0.1814 exonic LOR Reference - - - - - - - - LOR,NM_000427,exon2,c.566_567insCTCTGGCGGCGG,p.Y189delinsYSGGG chr1 153279463 153279465 AAG - 21/23(0.52) 1098 44 het unknown deletion chr1 rs143889228 0.76 - 0.4069 intronic PGLYRP3 Reference - - - - - - - - PGLYRP3 chr1 153390411 153390411 - A 0/19(1.00) 634 19 hom unknown insertion chr1 rs112028018 0.98 - 0.4020 intronic S100A7A Reference - - - - - - - - S100A7A chr1 153430250 153430250 G - 70/62(0.47) 2217 132 het unknown deletion chr1 rs35971850 0.40 - 0.3922 3-UTR S100A7 Reference - - - - - - - - S100A7 chr1 153636469 153636470 TA - 14/16(0.53) 624 30 het unknown deletion chr1 - - - 0.2696 intronic ILF2 Reference - - - - - - - - ILF2 chr1 153636472 153636472 T - 15/16(0.52) 621 31 het unknown deletion chr1 - - - 0.2623 intronic ILF2 Reference - - - - - - - - ILF2 chr1 153661375 153661375 G - 16/16(0.50) 609 32 het unknown deletion chr1 rs34402066 0.68 - 0.4632 intronic NPR1 Reference - - - - - - - - NPR1 chr1 153750207 153750207 - CTT 48/29(0.38) 1553 77 het unknown insertion chr1 rs139720425 0.45 0.373582 0.3578 intronic SLC27A3 Reference - - - - - - - - SLC27A3 chr1 153750215 153750215 C - 47/29(0.38) 796 76 het unknown deletion chr1 rs3841381 0.44 - 0.3799 intronic SLC27A3 Reference - - - - - - - - SLC27A3 chr1 153907279 153907287 CTGCTGCTG - 36/18(0.33) 781 54 het nonframeshift deletion chr1 rs141373027 - 0.250653 0.3162 exonic DENND4B Reference - - - - - - - - DENND4B,NM_014856,exon18,c.2722_2730del,p.908_910del chr1 153921484 153921484 C - 10/18(0.64) 664 28 het unknown deletion chr1 rs111395902 0.30 - 0.2672 intronic CRTC2 Reference - - - - - - - - CRTC2 chr1 153954779 153954780 AC - 4/5(0.56) 206 9 het unknown deletion chr1 - - - 0.0245 intronic RAB13 Reference - - - - - - - - RAB13 chr1 153964396 153964396 - AA 0/100(1.00) 3070 100 hom unknown insertion chr1 rs67468611 0.96 - 0.3922 intronic RPS27 Reference - - - - - - - - RPS27 chr1 154110734 154110734 A - 17/18(0.51) 228 35 het unknown deletion chr1 rs11318139 - 0.359649 0.3284 intronic NUP210L Reference - - - - - - - - NUP210L chr1 154218640 154218643 TCAG - 1/8(0.89) 374 9 het unknown deletion chr1 rs4040743 0.52 0.386545 0.3211 intronic UBAP2L Reference - - - - - - - - UBAP2L chr1 154479657 154479657 - AT 0/19(1.00) 1154 19 hom unknown insertion chr1 rs10654618 - 0.904364 0.4632 intronic TDRD10 Reference - - - - - - - - TDRD10 chr1 154517191 154517191 C - 4/7(0.64) 313 11 het unknown deletion chr1 - - - - intronic TDRD10 Reference - - - - - - - - TDRD10 chr1 154580209 154580209 - CA 10/5(0.33) 247 15 het unknown insertion chr1 - - - 0.0564 intronic ADAR Reference - - - - - - - - ADAR chr1 154841405 154841405 - CAATATCCCC 7/6(0.46) 298 13 het unknown insertion chr1 - - - 0.0343 intronic KCNN3 Reference - - - - - - - - KCNN3 chr1 154841413 154841414 AA - 4/7(0.64) 269 11 het unknown deletion chr1 rs67898630 - - 0.0662 intronic KCNN3 Reference - - - - - - - - KCNN3 chr1 154842199 154842199 - GCTGCTGCTGCTGCT 0/23(1.00) 1382 23 hom nonframeshift insertion chr1 - - - 0.1348 exonic KCNN3 Reference - - - - - - - - KCNN3,NM_002249,exon1,c.241_242insAGCAGCAGCAGCAGC,p.P81delinsQQQQQP;KCNN3,NM_001204087,exon1,c.241_242insAGCAGCAGCAGCAGC,p.P81delinsQQQQQP chr1 154842242 154842244 GAA - 22/3(0.12) 52 25 het nonframeshift deletion chr1 - - - 0.0711 exonic KCNN3 Reference - - - - - - - - KCNN3,NM_002249,exon1,c.197_199del,p.66_67del;KCNN3,NM_001204087,exon1,c.197_199del,p.66_67del chr1 155158944 155158944 - GT 1/3(0.75) 106 4 het unknown insertion chr1 rs113989545 - - 0.2647 intronic MUC1 Reference - - - - - - - - MUC1 chr1 155720556 155720556 - T 25/24(0.49) 412 49 het unknown insertion chr1 - - - - intronic GON4L Reference - - - - - - - - GON4L chr1 155785579 155785582 AACT - 0/46(1.00) 2497 46 hom unknown deletion chr1 rs148569012 - 0.845712 0.4289 intronic GON4L Reference - - - - - - - - GON4L chr1 155880760 155880760 - A 0/15(1.00) 902 15 hom unknown insertion chr1 rs79437610 - - 0.4412 intronic RIT1 Reference - - - - - - - - RIT1 chr1 156374432 156374432 - T 27/25(0.48) 593 52 het unknown insertion chr1 - 0.40 0.104792 0.3211 intronic C1orf61 Reference - - - - - - - - C1orf61 chr1 156561557 156561557 - GGGCCGGGCC 1/4(0.80) 195 5 het unknown insertion chr1 - - - 0.1520 upstream APOA1BP Reference - - - - - - - - APOA1BP chr1 156565049 156565049 - AC 0/190(1.00) 3070 190 hom frameshift insertion chr1 rs112595382 - 0.995528 0.6912 exonic GPATCH4 Reference - - - - - - - - GPATCH4,NM_015590,exon8,c.1083_1084insGT,p.F362fs;GPATCH4,NM_182679,exon8,c.1068_1069insGT,p.F357fs chr1 156616443 156616449 CCCTGGC - 1/3(0.75) 113 4 het unknown deletion chr1 rs139511967 - - 0.2034 intronic BCAN Reference - - - - - - - - BCAN chr1 156785763 156785763 G - 51/47(0.48) 2261 98 het unknown deletion chr1 rs11325907 0.80 0.536895 0.4657 intronic NTRK1;SH2D2A Reference - - - - - - - - SH2D2A;NTRK1 chr1 156848910 156848910 A - 6/5(0.45) 203 11 het unknown deletion chr1 rs1799770 0.07 0.066693 0.1324 intronic NTRK1 Reference - - - - - - - - NTRK1 chr1 156874875 156874876 GG - 5/10(0.67) 146 15 het unknown deletion chr1 rs78436112 - - 0.3284 intronic PEAR1 Reference - - - - - - - - PEAR1 chr1 156877884 156877884 - G 22/19(0.46) 811 41 het unknown insertion chr1 - 0.41 0.133745 0.2770 intronic PEAR1 Reference - - - - - - - - PEAR1 chr1 156898243 156898245 TCT - 1/7(0.88) 322 8 het unknown deletion chr1 rs138106157 - - 0.2721 intronic LRRC71 Reference - - - - - - - - LRRC71 chr1 156914245 156914248 CATT - 0/7(1.00) 296 7 het unknown deletion chr1 - - - - intronic ARHGEF11 Reference - - - - - - - - ARHGEF11 chr1 156914241 156914248 CATTCATT - 0/7(1.00) 296 7 het unknown deletion chr1 rs112088642 - - 0.1373 intronic ARHGEF11 Reference - - - - - - - - ARHGEF11 chr1 156916640 156916640 - CCTATCCCTT 8/12(0.60) 656 20 het unknown insertion chr1 rs111988963 0.37 - 0.2574 intronic ARHGEF11 Reference - - - - - - - - ARHGEF11 chr1 156948957 156948959 CCT - 5/9(0.64) 415 14 het unknown deletion chr1 rs3831270 0.43 0.157084 0.3162 intronic ARHGEF11 Reference - - - - - - - - ARHGEF11 chr1 157963363 157963370 CGGGCTCC - 0/15(1.00) 785 15 hom unknown deletion chr1 rs148023130 - - 0.2426 5-UTR KIRREL Reference - - - - - - - - KIRREL chr1 158224578 158224583 TGTGTG - 5/9(0.64) 294 14 het unknown deletion chr1 - - - - intronic CD1A Reference - - - - - - - - CD1A chr1 158224576 158224583 TGTGTGTG - 5/9(0.64) 294 14 het unknown deletion chr1 rs72153350 - - 0.0686 intronic CD1A Reference - - - - - - - - CD1A chr1 158436355 158436355 T - 0/25(1.00) 689 25 hom unknown deletion chr1 rs67123344 0.57 - 0.3505 downstream OR10K1 Reference - - - - - - - - OR10K1 chr1 158507223 158507223 A - 0/105(1.00) 3039 105 hom unknown deletion chr1 rs5778082 - - 0.3750 intergenic OR10R2;OR6Y1 Reference - - - - - - - - OR10R2(dist=56548);OR6Y1(dist=9695) chr1 158580922 158580923 CA - 2/6(0.75) 267 8 het unknown deletion chr1 rs66981873 - - 0.2426 3-UTR SPTA1 Reference - - - - - - - - SPTA1 chr1 158637866 158637868 AAA - 0/19(1.00) 108 19 hom unknown deletion chr1 rs140998442 - 0.284981 0.2574 intronic SPTA1 Reference - - - - - - - - SPTA1 chr1 158815343 158815348 TTTAAG - 35/21(0.38) 953 56 het unknown deletion chr1 rs146722319 0.28 0.082188 0.2721 intronic MNDA Reference - - - - - - - - MNDA chr1 159002578 159002583 GGATTG - 1/3(0.75) 113 4 het unknown deletion chr1 rs147007436 - - 0.3186 intronic IFI16 Reference - - - - - - - - IFI16 chr1 159175005 159175005 T - 0/37(1.00) 1538 37 hom unknown deletion chr1 rs17838198 0.68 - 0.3971 intronic DARC Reference - - - - - - - - DARC chr1 159249451 159249451 - A 0/59(1.00) 1821 59 hom unknown insertion chr1 - 0.51 - 0.4534 intergenic DARC;FCER1A Reference - - - - - - - - FCER1A(dist=10053);DARC(dist=73161) chr1 159402584 159402584 - T 0/64(1.00) 3070 64 hom unknown insertion chr1 rs11452668 - - 0.4534 intergenic OR10J3;OR10J1 Reference - - - - - - - - OR10J1(dist=6928);OR10J3(dist=118135) chr1 159684048 159684057 CACACACACA - 3/4(0.57) 159 7 het unknown deletion chr1 - - - - intronic CRP Reference - - - - - - - - CRP chr1 159826561 159826561 - CA 0/3(1.00) 109 3 het unknown insertion chr1 - - - 0.1054 intronic VSIG8 Reference - - - - - - - - VSIG8 chr1 159826561 159826561 - CACA 0/3(1.00) 109 3 het unknown insertion chr1 - - - 0.1373 intronic VSIG8 Reference - - - - - - - - VSIG8 chr1 160090682 160090685 CCTT - 11/10(0.48) 449 21 het unknown deletion chr1 rs147493087 0.81 0.686024 0.4804 intronic ATP1A2 Reference - - - - - - - - ATP1A2 chr1 160151624 160151624 - C 2/121(0.98) 3070 123 hom unknown insertion chr1 rs71579661 0.89 - 0.5319 intronic ATP1A4 Reference - - - - - - - - ATP1A4 chr1 160582200 160582200 - A 12/7(0.37) 40 19 het unknown insertion chr1 rs200238058 0.13 - 0.1201 intronic SLAMF1 Reference - - - - - - - - SLAMF1 chr1 160650919 160650919 C - 7/11(0.61) 348 18 het frameshift deletion chr1 rs142100077 0.10 - 0.1667 exonic CD48 Reference - - - - - - - - CD48,NM_001256030,exon3,c.725delG,p.G242fs chr1 160969008 160969008 - G 6/11(0.65) 473 17 het unknown insertion chr1 - 0.86 - 0.4289 intronic F11R Reference - - - - - - - - F11R chr1 161011737 161011738 GA - 17/6(0.26) 220 23 het unknown deletion chr1 rs144100508 - - 0.1078 intronic USF1 Reference - - - - - - - - USF1 chr1 161047126 161047129 TATA - 3/4(0.57) 160 7 het unknown deletion chr1 rs60601836 0.67 - 0.3676 intronic PVRL4 Reference - - - - - - - - PVRL4 chr1 161192848 161192853 CACACA - 1/19(0.95) 193 20 het unknown deletion chr1 rs67529063 - - - intronic APOA2 Reference - - - - - - - - APOA2 chr1 161192846 161192853 CACACACA - 1/19(0.95) 193 20 het unknown deletion chr1 - - - 0.0025 intronic APOA2 Reference - - - - - - - - APOA2 chr1 161722779 161722779 - AAA 12/8(0.40) 97 20 het unknown insertion chr1 rs35439833 - - 0.3088 intronic DUSP12 Reference - - - - - - - - DUSP12 chr1 161823197 161823197 - T 49/60(0.55) 3070 109 het unknown insertion chr1 rs112400651 0.68 - 0.3946 intronic ATF6 Reference - - - - - - - - ATF6 chr1 161830200 161830215 ATATATATATATATGT - 1/3(0.75) 113 4 het unknown deletion chr1 - - - - intronic ATF6 Reference - - - - - - - - ATF6 chr1 161976272 161976272 - A 13/59(0.82) 1210 72 het unknown insertion chr1 rs34863451 - 0.727599 0.4583 intronic OLFML2B Reference - - - - - - - - OLFML2B chr1 162762822 162762822 - TTC 2/3(0.60) 125 5 het unknown insertion chr1 - 0.44 - 0.0025 intronic HSD17B7 Reference - - - - - - - - HSD17B7 chr1 165378732 165378735 ACAC - 2/31(0.94) 117 33 het unknown deletion chr1 - - - - intronic RXRG Reference - - - - - - - - RXRG chr1 165378730 165378735 ACACAC - 2/31(0.94) 117 33 het unknown deletion chr1 rs202161632 - - 0.0049 intronic RXRG Reference - - - - - - - - RXRG chr1 165621114 165621115 AG - 1/5(0.83) 218 6 het unknown deletion chr1 rs71652937 - - 0.0221 intronic MGST3 Reference - - - - - - - - MGST3 chr1 165621323 165621328 ATTATC - 23/15(0.39) 675 38 het unknown deletion chr1 rs77176546 0.17 0.204745 0.1936 intronic MGST3 Reference - - - - - - - - MGST3 chr1 166831703 166831703 - A 7/2(0.22) 46 9 het unknown insertion chr1 - 0.30 - 0.2525 intronic TADA1 Reference - - - - - - - - TADA1 chr1 167353259 167353259 T - 0/12(1.00) 230 12 hom unknown deletion chr1 rs35617253 - - 0.3505 intronic POU2F1 Reference - - - - - - - - POU2F1 chr1 167385178 167385178 - A 6/15(0.71) 74 21 het unknown insertion chr1 - - - 0.2794 3-UTR POU2F1 Reference - - - - - - - - POU2F1 chr1 167404203 167404204 GG - 2/3(0.60) 85 5 het unknown deletion chr1 - - - 0.0074 intronic CD247 Reference - - - - - - - - CD247 chr1 167889146 167889146 A - 27/22(0.45) 105 49 het unknown deletion chr1 rs199537893 - - 0.0588 intronic MPC2 Reference - - - - - - - - MPC2 chr1 167985327 167985327 G - 7/3(0.30) 64 10 het unknown deletion chr1 rs3831959 0.19 - 0.1225 intronic DCAF6 Reference - - - - - - - - DCAF6 chr1 168057031 168057031 T - 4/5(0.56) 166 9 het unknown deletion chr1 rs11351983 0.05 - 0.0588 intronic GPR161 Reference - - - - - - - - GPR161 chr1 168206119 168206123 TTTAA - 12/16(0.57) 759 28 het unknown deletion chr1 rs55947108 0.45 - 0.3015 intronic SFT2D2 Reference - - - - - - - - SFT2D2 chr1 168260377 168260377 - GTTTC 40/32(0.44) 1730 72 het unknown insertion chr1 rs140045735 0.09 0.036593 0.1348 intronic TBX19 Reference - - - - - - - - TBX19 chr1 168262522 168262522 - GT 2/6(0.75) 314 8 het unknown insertion chr1 - - - 0.1765 intronic TBX19 Reference - - - - - - - - TBX19 chr1 168665747 168665747 - T 0/107(1.00) 3070 107 hom unknown insertion chr1 rs78760104 0.57 0.621466 0.3873 3-UTR DPT Reference - - - - - - - - DPT chr1 168670141 168670146 GTGTGG - 0/11(1.00) 565 11 hom unknown deletion chr1 rs113747482 - - 0.2843 intronic DPT Reference - - - - - - - - DPT chr1 169102181 169102184 AATC - 2/84(0.98) 3070 86 hom unknown deletion chr1 rs143626818 - - 0.3824 intronic NME7 Reference - - - - - - - - NME7 chr1 169206994 169206994 - T 2/7(0.78) 215 9 het unknown insertion chr1 rs35686505 0.63 0.020951 0.3113 intronic NME7 Reference - - - - - - - - NME7 chr1 169349608 169349608 - TA 0/13(1.00) 776 13 hom unknown insertion chr1 - 0.93 - 0.3235 intronic BLZF1 Reference - - - - - - - - BLZF1 chr1 169679472 169679472 - CT 2/4(0.67) 194 6 het unknown insertion chr1 rs4987281 0.31 - 0.2255 intronic SELL Reference - - - - - - - - SELL chr1 169699467 169699467 A - 5/7(0.58) 84 12 het unknown deletion chr1 rs60426343 - - 0.3064 intronic SELE Reference - - - - - - - - SELE chr1 169923041 169923041 - T 0/31(1.00) 1201 31 hom unknown insertion chr1 rs35674215 0.49 - 0.2892 intronic KIFAP3 Reference - - - - - - - - KIFAP3 chr1 170501522 170501522 C - 9/5(0.36) 194 14 het unknown deletion chr1 rs112197426 - - 0.0858 intronic GORAB Reference - - - - - - - - GORAB chr1 170508755 170508755 - T 12/15(0.56) 480 27 het unknown insertion chr1 rs5778667 0.58 0.145547 0.3799 intronic GORAB Reference - - - - - - - - GORAB chr1 170927572 170927572 - C 10/11(0.52) 546 21 het unknown insertion chr1 rs35425940 0.47 - 0.2917 intronic MROH9 Reference - - - - - - - - MROH9 chr1 171077503 171077503 C - 4/5(0.56) 147 9 het unknown deletion chr1 rs28363550 0.18 - 0.1961 intronic FMO3 Reference - - - - - - - - FMO3 chr1 171085314 171085314 - T 11/5(0.31) 211 16 het unknown insertion chr1 rs2066528 0.39 0.308786 0.2672 intronic FMO3 Reference - - - - - - - - FMO3 chr1 171130599 171130603 ACACA - 10/10(0.50) 452 20 het unknown deletion chr1 rs145126383 - - 0.2206 ncRNA_exonic FMO6P Reference - - - - - - - - FMO6P chr1 172222630 172222644 CTCTCCTCTCCTCTC - 1/5(0.83) 211 6 het unknown deletion chr1 rs145316116 - - 0.1985 intronic DNM3 Reference - - - - - - - - DNM3 chr1 172502728 172502728 A - 16/13(0.45) 591 29 het unknown deletion chr1 rs55696309 0.17 - 0.1912 intronic SUCO Reference - - - - - - - - SUCO chr1 173836247 173836247 - A 3/5(0.62) 114 8 het unknown insertion chr1 rs144869587 - - 0.2181 ncRNA_intronic GAS5 Reference - - - - - - - - GAS5 chr1 173961807 173961807 - AC 10/6(0.38) 264 16 het unknown insertion chr1 - - - 0.1201 intronic RC3H1 Reference - - - - - - - - RC3H1 chr1 174984068 174984070 TCT TT het unknown substitution chr1 - - - - intronic MRPS14 Reference - - - - - - - - MRPS14 chr1 174984070 174984070 T - 1/0(0.00) 55 1 het unknown deletion chr1 - - - 0.1544 intronic MRPS14 Reference - - - - - - - - MRPS14 chr1 174984074 174984074 C - 13/9(0.41) 358 22 het unknown deletion chr1 rs201408977 0.61 - 0.0221 intronic MRPS14 Reference - - - - - - - - MRPS14 chr1 175116046 175116046 - T 3/15(0.83) 204 18 hom unknown insertion chr1 rs112900440 - 0.403695 0.2574 intronic TNN Reference - - - - - - - - TNN chr1 175324519 175324520 CA - 0/36(1.00) 1945 36 hom unknown deletion chr1 rs150598344 - - 0.4191 intronic TNR Reference - - - - - - - - TNR chr1 176681166 176681167 TG - 4/10(0.71) 470 14 het unknown deletion chr1 rs66731142 - - 0.0343 intronic PAPPA2 Reference - - - - - - - - PAPPA2 chr1 179317896 179317921 TGTGTGTGTGTGTGTGTGTGTGTGTG - 5/4(0.44) 154 9 het unknown deletion chr1 rs200924427 - - 0.1422 intronic SOAT1 Reference - - - - - - - - SOAT1 chr1 179380473 179380473 T - 16/6(0.27) 70 22 het unknown deletion chr1 rs5779024 0.51 - 0.3186 intronic AXDND1 Reference - - - - - - - - AXDND1 chr1 179401565 179401565 T - 61/61(0.50) 664 122 het unknown deletion chr1 rs10706073 - - 0.3897 intronic AXDND1 Reference - - - - - - - - AXDND1 chr1 179494613 179494616 TACA - 2/6(0.75) 251 8 het unknown deletion chr1 rs71940904 - - 0.1471 intronic AXDND1 Reference - - - - - - - - AXDND1 chr1 179504026 179504028 AAG - 34/27(0.44) 1241 61 het nonframeshift deletion chr1 rs141228272 0.46 - 0.3627 exonic AXDND1 Reference - - - - - - - - AXDND1,NM_144696,exon25,c.2960_2962del,p.987_988del chr1 180897793 180897795 TGC - 8/5(0.38) 197 13 het unknown deletion chr1 rs35197779 0.45 - 0.3627 intronic KIAA1614 Reference - - - - - - - - KIAA1614 chr1 181003340 181003340 - G 13/16(0.55) 880 29 het unknown insertion chr1 rs61482628 0.44 - 0.3039 intronic MR1 Reference - - - - - - - - MR1 chr1 181752924 181752928 AGCTT - 17/12(0.41) 536 29 het unknown deletion chr1 rs36163765 0.86 0.780376 0.5123 intronic CACNA1E Reference - - - - - - - - CACNA1E chr1 182429298 182429299 TG - 0/8(1.00) 87 8 het unknown deletion chr1 - - - - intronic RGSL1 Reference - - - - - - - - RGSL1 chr1 182429296 182429299 TGTG - 0/8(1.00) 87 8 het unknown deletion chr1 - - - - intronic RGSL1 Reference - - - - - - - - RGSL1 chr1 182794901 182794901 - T 18/11(0.38) 530 29 het unknown insertion chr1 - 0.14 0.242613 0.1520 intronic NPL Reference - - - - - - - - NPL chr1 182849835 182849835 A - 4/20(0.83) 344 24 het unknown deletion chr1 rs146667415 - - 0.1299 intronic DHX9 Reference - - - - - - - - DHX9 chr1 182856141 182856142 TA - 3/2(0.40) 55 5 het unknown deletion chr1 rs139391215 0.13 - 0.1299 intronic DHX9 Reference - - - - - - - - DHX9 chr1 183077296 183077296 - G 8/9(0.53) 476 17 het unknown insertion chr1 rs3835273 0.58 - 0.3039 intronic LAMC1 Reference - - - - - - - - LAMC1 chr1 183094418 183094418 - C 2/4(0.67) 194 6 het unknown insertion chr1 rs5779155 0.58 - 0.2745 intronic LAMC1 Reference - - - - - - - - LAMC1 chr1 183095186 183095187 AA - 13/17(0.57) 96 30 het unknown deletion chr1 rs55856623 - - 0.3015 intronic LAMC1 Reference - - - - - - - - LAMC1 chr1 183097956 183097956 - TTA 11/9(0.45) 444 20 het unknown insertion chr1 rs34133998 - - 0.3456 intronic LAMC1 Reference - - - - - - - - LAMC1 chr1 183104341 183104341 T - 32/28(0.47) 339 60 het unknown deletion chr1 rs35182436 - - 0.3946 intronic LAMC1 Reference - - - - - - - - LAMC1 chr1 183155716 183155716 T - 0/17(1.00) 896 17 hom unknown deletion chr1 rs146819165 0.69 - 0.3064 intronic LAMC2 Reference - - - - - - - - LAMC2 chr1 185069314 185069314 - T 3/4(0.57) 165 7 het unknown insertion chr1 - 0.30 0.082015 0.2108 intronic RNF2 Reference - - - - - - - - RNF2 chr1 185834851 185834851 - T 13/9(0.41) 49 22 het unknown insertion chr1 - - - 0.0588 intronic HMCN1 Reference - - - - - - - - HMCN1 chr1 186114444 186114444 T - 13/19(0.59) 357 32 het unknown deletion chr1 rs5779272 - - 0.3431 ncRNA_intronic MIR548F1 Reference - - - - - - - - MIR548F1 chr1 186326758 186326758 A - 11/7(0.39) 187 18 het unknown deletion chr1 rs3841803 0.38 0.075784 0.2892 ncRNA_intronic MIR548F1 Reference - - - - - - - - MIR548F1 chr1 186330700 186330700 - G 22/19(0.46) 1033 41 het unknown insertion chr1 rs36117514 0.49 0.288325 0.3529 ncRNA_intronic MIR548F1 Reference - - - - - - - - MIR548F1 chr1 186839880 186839881 AG - 0/66(1.00) 3070 66 hom unknown deletion chr1 rs12720508 0.33 - 0.3603 intronic PLA2G4A Reference - - - - - - - - PLA2G4A chr1 186863386 186863387 AA - 8/11(0.58) 394 19 het unknown deletion chr1 rs2307193 0.32 0.398945 0.2892 intronic PLA2G4A Reference - - - - - - - - PLA2G4A chr1 186901739 186901751 TCTTCTTTTAAAA - 4/6(0.60) 261 10 het unknown deletion chr1 rs12720584 0.47 - 0.2843 intronic PLA2G4A Reference - - - - - - - - PLA2G4A chr1 192335271 192335271 - TAAT 9/4(0.31) 172 13 het unknown insertion chr1 rs113986528 0.15 - 0.1985 3-UTR RGS21 Reference - - - - - - - - RGS21 chr1 192780089 192780090 CT - 41/56(0.58) 2744 97 het unknown deletion chr1 rs142934619 0.44 0.283421 0.3358 intronic RGS2 Reference - - - - - - - - RGS2 chr1 192780338 192780339 AA - 7/3(0.30) 64 10 het unknown deletion chr1 rs10607546 0.44 - 0.2868 intronic RGS2 Reference - - - - - - - - RGS2 chr1 193066519 193066520 AC - 3/2(0.40) 55 5 het unknown deletion chr1 - - - 0.0147 intronic GLRX2 Reference - - - - - - - - GLRX2 chr1 193094369 193094372 TATC - 24/23(0.49) 1041 47 het unknown deletion chr1 rs71945947 0.49 0.025315 0.3284 intronic CDC73 Reference - - - - - - - - CDC73 chr1 196743837 196743837 A - 2/3(0.60) 111 5 het unknown deletion chr1 - - - 0.0196 upstream CFHR3 Reference - - - - - - - - CFHR3 chr1 196799536 196799536 A - 9/7(0.44) 298 16 het unknown deletion chr1 - - - 0.0123 intronic CFHR1 Reference - - - - - - - - CFHR1 chr1 196799538 196799541 TATA - 9/7(0.44) 299 16 het unknown deletion chr1 - - - 0.0123 intronic CFHR1 Reference - - - - - - - - CFHR1 chr1 196884074 196884074 - T 16/9(0.36) 169 25 het unknown insertion chr1 rs201089095 - - 0.1054 intronic CFHR4 Reference - - - - - - - - CFHR4 chr1 196920061 196920064 AATT - 10/25(0.71) 1234 35 het frameshift deletion chr1 - - - 0.0343 exonic CFHR2 Reference - - - - - - - - CFHR2,NM_005666,exon3,c.333_336del,p.111_112del chr1 200182710 200182721 GCCGGAGAGGAG - 0/11(1.00) 500 11 hom unknown deletion chr1 - - - 0.2059 intergenic NR5A2;LINC00862 Reference - - - - - - - - NR5A2(dist=36160);LINC00862(dist=128951) chr1 200811313 200811313 - T 4/6(0.60) 79 10 het unknown insertion chr1 - 0.35 - 0.2475 intronic CAMSAP2 Reference - - - - - - - - CAMSAP2 chr1 200816521 200816521 G - 8/3(0.27) 93 11 het unknown deletion chr1 - - - 0.1324 intronic CAMSAP2 Reference - - - - - - - - CAMSAP2 chr1 200816523 200816523 G - 8/3(0.27) 93 11 het unknown deletion chr1 rs201869247 0.19 - 0.1299 intronic CAMSAP2 Reference - - - - - - - - CAMSAP2 chr1 200943794 200943797 AGGA - 0/54(1.00) 2939 54 hom unknown deletion chr1 rs71991687 - 0.998641 0.5368 intronic KIF21B Reference - - - - - - - - KIF21B chr1 201285211 201285214 GACA - 3/3(0.50) 107 6 het unknown deletion chr1 - - - - intronic PKP1 Reference - - - - - - - - PKP1 chr1 201285234 201285237 AGAT - 3/2(0.40) 70 5 het unknown deletion chr1 - - - - intronic PKP1 Reference - - - - - - - - PKP1 chr1 201285261 201285261 - GGAT 3/3(0.50) 124 6 het unknown insertion chr1 - - - 0.1397 intronic PKP1 Reference - - - - - - - - PKP1 chr1 201286615 201286615 A - 1/35(0.97) 727 36 hom unknown deletion chr1 rs11336457 - - 0.4020 intronic PKP1 Reference - - - - - - - - PKP1 chr1 201293513 201293513 G - 7/10(0.59) 356 17 het unknown deletion chr1 rs36076398 0.74 0.487620 0.4681 intronic PKP1 Reference - - - - - - - - PKP1 chr1 201754427 201754428 TA - 12/5(0.29) 145 17 het unknown deletion chr1 - - - - ncRNA_intronic IPO9-AS1;RNU6-79P Reference - - - - - - - - IPO9-AS1;RNU6-79P chr1 201763468 201763468 C - 6/3(0.33) 73 9 het unknown deletion chr1 rs200164772 0.08 - 0.1054 ncRNA_intronic IPO9-AS1;RNU6-79P Reference - - - - - - - - IPO9-AS1;RNU6-79P chr1 201772863 201772863 - G 0/48(1.00) 2669 48 hom unknown insertion chr1 - - 0.978278 0.5490 ncRNA_intronic IPO9-AS1 Reference - - - - - - - - IPO9-AS1 chr1 201926386 201926386 - T 74/38(0.34) 823 112 het unknown insertion chr1 - 0.24 - 0.3015 intronic TIMM17A Reference - - - - - - - - TIMM17A chr1 202107425 202107426 AC - 0/4(1.00) 154 4 het unknown deletion chr1 - - - - intronic ARL8A Reference - - - - - - - - ARL8A chr1 202107423 202107426 ACAC - 0/4(1.00) 154 4 het unknown deletion chr1 rs10531175 - - 0.1495 intronic ARL8A Reference - - - - - - - - ARL8A chr1 202194509 202194509 G - 25/38(0.60) 1869 63 het unknown deletion chr1 rs149459287 0.37 0.086568 0.3333 intronic LGR6 Reference - - - - - - - - LGR6 chr1 202715244 202715244 - A 1/70(0.99) 2124 71 hom unknown insertion chr1 rs5780122 0.78 0.640952 0.4632 intronic KDM5B Reference - - - - - - - - KDM5B chr1 202731986 202731986 - CTCAA 0/18(1.00) 1070 18 hom unknown insertion chr1 - - 0.718086 0.3603 intronic KDM5B Reference - - - - - - - - KDM5B chr1 203037475 203037475 A - 2/7(0.78) 319 9 het unknown deletion chr1 rs3831931 0.14 - 0.1446 intronic PPFIA4 Reference - - - - - - - - PPFIA4 chr1 203186950 203186950 - AGACCATGGCCCCGCCCAGTCCCT 0/14(1.00) 807 14 hom stopgain SNV chr1 rs150192398 - - 0.3382 exonic CHIT1 Reference - - - - - - - - CHIT1,NM_003465,exon10,c.1072_1073insAGGGACTGGGCGGGGCCATGGTCT,p.W358delinsX;CHIT1,NM_001256125,exon9,c.1015_1016insAGGGACTGGGCGGGGCCATGGTCT,p.W339delinsX chr1 203187341 203187341 - GGTCAA 0/26(1.00) 1594 26 hom unknown insertion chr1 rs142759151 0.71 - 0.3652 intronic CHIT1 Reference - - - - - - - - CHIT1 chr1 203192449 203192449 C - 0/14(1.00) 556 14 hom unknown deletion chr1 rs3216011 0.53 - 0.4044 intronic CHIT1 Reference - - - - - - - - CHIT1 chr1 203807029 203807029 T - 3/2(0.40) 34 5 het unknown deletion chr1 rs34191177 0.04 - 0.0662 intronic ZC3H11A Reference - - - - - - - - ZC3H11A chr1 203833063 203833066 TCTG - 9/9(0.50) 403 18 het unknown deletion chr1 rs142737263 0.26 - 0.1691 intronic SNRPE Reference - - - - - - - - SNRPE chr1 204214978 204214983 ACACAC - 0/12(1.00) 129 12 het unknown deletion chr1 rs66602475 - - - intronic PLEKHA6 Reference - - - - - - - - PLEKHA6 chr1 204214976 204214983 ACACACAC - 0/12(1.00) 129 12 het unknown deletion chr1 - - - - intronic PLEKHA6 Reference - - - - - - - - PLEKHA6 chr1 204234197 204234198 GT - 1/53(0.98) 2799 54 hom unknown deletion chr1 rs138903413 - - 0.1961 intronic PLEKHA6 Reference - - - - - - - - PLEKHA6 chr1 204506175 204506175 T - 17/19(0.53) 665 36 het unknown deletion chr1 rs4252704 0.37 - 0.2941 intronic MDM4 Reference - - - - - - - - MDM4 chr1 205766160 205766160 A - 33/27(0.45) 986 60 het unknown deletion chr1 rs5780304 0.79 0.790449 0.4559 intronic SLC41A1 Reference - - - - - - - - SLC41A1 chr1 205884646 205884646 - TG 2/4(0.67) 174 6 het unknown insertion chr1 - - - 0.0368 intronic SLC26A9 Reference - - - - - - - - SLC26A9 chr1 205893754 205893754 T - 10/12(0.55) 335 22 het unknown deletion chr1 rs34907090 - - 0.3309 intronic SLC26A9 Reference - - - - - - - - SLC26A9 chr1 206770284 206770284 C - 6/10(0.62) 242 16 het unknown deletion chr1 rs11284613 - - 0.2966 intronic EIF2D Reference - - - - - - - - EIF2D chr1 206772195 206772196 CT - 3/8(0.73) 368 11 het unknown deletion chr1 rs59769291 0.55 - 0.3260 intronic EIF2D Reference - - - - - - - - EIF2D chr1 206904645 206904646 GT - 18/6(0.25) 220 24 het unknown deletion chr1 - - 0.093915 0.0074 intronic MAPKAPK2 Reference - - - - - - - - MAPKAPK2 chr1 207087656 207087675 TTCCTTCCTTCCTTCCTTCC - 1/3(0.75) 122 4 het unknown deletion chr1 rs139350984 - - 0.0172 intronic FAIM3 Reference - - - - - - - - FAIM3 chr1 207241441 207241442 GT - 31/5(0.14) 129 36 het unknown deletion chr1 rs4030464 - - 0.0588 intronic PFKFB2 Reference - - - - - - - - PFKFB2 chr1 208063100 208063100 - A 21/28(0.57) 357 49 het unknown insertion chr1 - - - 0.3578 intronic CD34 Reference - - - - - - - - CD34 chr1 208204795 208204798 TGTT - 0/35(1.00) 1890 35 hom unknown deletion chr1 rs76190764 0.70 - 0.3848 intronic PLXNA2 Reference - - - - - - - - PLXNA2 chr1 208276399 208276399 - CTCT 0/69(1.00) 3070 69 hom unknown insertion chr1 rs113688850 - - 0.4118 intronic PLXNA2 Reference - - - - - - - - PLXNA2 chr1 209605637 209605648 AGCAGCAGCAGC - 8/5(0.38) 197 13 het nonframeshift deletion chr1 - - - 0.4069 exonic MIR205HG Reference - - - - - - - - MIR205HG,NM_001104548,exon4,c.252_263del,p.84_88del chr1 209781048 209781049 AC - 19/10(0.34) 425 29 het unknown deletion chr1 rs150478886 - - 0.0147 intronic CAMK1G Reference - - - - - - - - CAMK1G chr1 209792015 209792015 - C 0/76(1.00) 3070 76 hom unknown insertion chr1 rs5780528 - 0.952244 0.4853 intronic LAMB3 Reference - - - - - - - - LAMB3 chr1 209849400 209849400 G - 2/3(0.60) 111 5 het unknown deletion chr1 rs3830766 0.51 - 0.3676 3-UTR G0S2 Reference - - - - - - - - G0S2 chr1 209880216 209880216 - A 56/39(0.41) 2005 95 het unknown insertion chr1 rs77382927 0.22 0.190944 0.2819 intronic HSD11B1 Reference - - - - - - - - HSD11B1 chr1 209880509 209880509 A - 14/18(0.56) 223 32 het unknown deletion chr1 rs58182526 - - 0.2941 intronic HSD11B1 Reference - - - - - - - - HSD11B1 chr1 209936964 209936964 - CA 37/19(0.34) 987 56 het unknown insertion chr1 rs34406510 0.30 0.375978 0.2966 intronic TRAF3IP3 Reference - - - - - - - - TRAF3IP3 chr1 210407330 210407330 T - 2/7(0.78) 90 9 het unknown deletion chr1 rs36086035 - - 0.2255 ncRNA_exonic SERTAD4-AS1 Reference - - - - - - - - SERTAD4-AS1 chr1 210591743 210591743 G - 14/18(0.56) 526 32 het unknown deletion chr1 rs3215542 - - 0.4093 intronic HHAT Reference - - - - - - - - HHAT chr1 211280725 211280726 AA - 16/23(0.59) 114 39 het unknown deletion chr1 rs199641326 - - 0.0833 intronic KCNH1 Reference - - - - - - - - KCNH1 chr1 212251368 212251368 T - 0/21(1.00) 436 21 hom unknown deletion chr1 rs5780675 - - 0.3824 intronic DTL Reference - - - - - - - - DTL chr1 212791289 212791290 GT - 3/3(0.50) 108 6 het unknown deletion chr1 rs3839030 - - 0.2206 intronic ATF3 Reference - - - - - - - - ATF3 chr1 212900434 212900434 - G 3/3(0.50) 131 6 het unknown insertion chr1 - - 0.691899 0.2868 3-UTR NSL1 Reference - - - - - - - - NSL1 chr1 213068542 213068542 - TGAT 21/22(0.51) 1216 43 het unknown insertion chr1 rs146462077 0.44 0.197093 0.3309 intronic FLVCR1 Reference - - - - - - - - FLVCR1 chr1 213405415 213405426 GCAACTGAGGAT - 21/11(0.34) 474 32 het unknown deletion chr1 rs11271079 0.59 0.735953 0.3480 intronic RPS6KC1 Reference - - - - - - - - RPS6KC1 chr1 214567014 214567014 G - 0/48(1.00) 1542 48 hom unknown deletion chr1 rs11322819 - 0.837965 0.3922 intronic PTPN14 Reference - - - - - - - - PTPN14 chr1 214806073 214806076 AAGT - 0/11(1.00) 564 11 hom unknown deletion chr1 rs146826898 0.15 - 0.1912 intronic CENPF Reference - - - - - - - - CENPF chr1 214826811 214826811 T - 6/63(0.91) 374 69 het unknown deletion chr1 rs5780800 - - 0.3922 intronic CENPF Reference - - - - - - - - CENPF chr1 215799018 215799018 - AATA 11/11(0.50) 586 22 het unknown insertion chr1 rs141636292 - - 0.0123 3-UTR USH2A Reference - - - - - - - - USH2A chr1 215853749 215853749 T - 1/25(0.96) 382 26 hom unknown deletion chr1 rs5780842 - - 0.4583 intronic USH2A Reference - - - - - - - - USH2A chr1 216246676 216246676 G - 0/29(1.00) 1253 29 hom unknown deletion chr1 rs35944387 0.94 0.708513 0.5245 intronic USH2A Reference - - - - - - - - USH2A chr1 216679858 216679858 - T 13/17(0.57) 343 30 het unknown insertion chr1 rs144848582 0.62 - 0.3211 3-UTR ESRRG Reference - - - - - - - - ESRRG chr1 218578685 218578685 - TTGTTG 30/18(0.38) 948 48 het unknown insertion chr1 - - - 0.0931 intronic TGFB2 Reference - - - - - - - - TGFB2 chr1 220101022 220101022 - C 6/7(0.54) 338 13 het unknown insertion chr1 - - - 0.0025 ncRNA_intronic RNU5F-1 Reference - - - - - - - - RNU5F-1 chr1 220101024 220101024 - C 6/7(0.54) 341 13 het unknown insertion chr1 - - - 0.0025 ncRNA_intronic RNU5F-1 Reference - - - - - - - - RNU5F-1 chr1 220151808 220151808 - AA 3/6(0.67) 311 9 het unknown insertion chr1 rs3215088 0.53 - 0.3039 ncRNA_intronic RNU5F-1 Reference - - - - - - - - RNU5F-1 chr1 220153332 220153332 - AA 0/29(1.00) 1691 29 hom unknown insertion chr1 rs3835619 - - 0.4020 ncRNA_intronic RNU5F-1 Reference - - - - - - - - RNU5F-1 chr1 220154247 220154247 T - 1/18(0.95) 246 19 hom unknown deletion chr1 rs35193743 - - 0.3480 ncRNA_intronic RNU5F-1 Reference - - - - - - - - RNU5F-1 chr1 220178717 220178717 - A 0/26(1.00) 1426 26 hom unknown insertion chr1 - 0.94 0.859735 0.3799 ncRNA_intronic RNU5F-1 Reference - - - - - - - - RNU5F-1 chr1 220327445 220327445 G - 8/3(0.27) 37 11 het unknown deletion chr1 rs140309039 0.19 0.032751 0.2157 intronic RAB3GAP2 Reference - - - - - - - - RAB3GAP2 chr1 220369746 220369746 A - 13/9(0.41) 39 22 het unknown deletion chr1 rs35396665 - 0.254075 0.3064 intronic RAB3GAP2 Reference - - - - - - - - RAB3GAP2 chr1 223408496 223408496 - A 12/5(0.29) 53 17 het unknown insertion chr1 rs142519653 - - 0.1814 intronic SUSD4 Reference - - - - - - - - SUSD4 chr1 224302154 224302154 - GAG 0/12(1.00) 712 12 hom unknown insertion chr1 rs3066024 - - 0.4926 intronic FBXO28 Reference - - - - - - - - FBXO28 chr1 224318151 224318151 - TTG 0/21(1.00) 1279 21 hom unknown insertion chr1 rs3065998 - 0.986264 0.4020 intronic FBXO28 Reference - - - - - - - - FBXO28 chr1 224505570 224505570 - AA 0/17(1.00) 973 17 hom unknown insertion chr1 - - 0.999680 0.3824 intronic NVL Reference - - - - - - - - NVL chr1 225148112 225148112 - T 12/11(0.48) 583 23 het unknown insertion chr1 rs150480647 0.05 - 0.0515 intronic DNAH14 Reference - - - - - - - - DNAH14 chr1 225335028 225335028 - T 6/12(0.67) 522 18 het unknown insertion chr1 - 0.26 - 0.2279 intronic DNAH14 Reference - - - - - - - - DNAH14 chr1 225512403 225512403 T - 44/51(0.54) 1725 95 het unknown deletion chr1 rs75859387 0.34 0.187694 0.2770 intronic DNAH14 Reference - - - - - - - - DNAH14 chr1 226044489 226044489 - C 0/21(1.00) 1034 21 hom unknown insertion chr1 rs78505240 - 0.999840 0.5000 intronic TMEM63A Reference - - - - - - - - TMEM63A chr1 226252284 226252284 T - 5/6(0.55) 64 11 het unknown deletion chr1 rs3832021 - - 0.1127 ncRNA_intronic H3F3AP4 Reference - - - - - - - - H3F3AP4 chr1 226485327 226485327 - T 0/26(1.00) 1003 26 hom unknown insertion chr1 rs11390947 0.72 - 0.3554 intronic LIN9 Reference - - - - - - - - LIN9 chr1 226923147 226923147 T - 13/10(0.43) 357 23 het unknown deletion chr1 rs11337528 0.35 - 0.3113 intronic ITPKB Reference - - - - - - - - ITPKB chr1 226924876 226924884 CTGCCGCTG - 17/12(0.41) 536 29 het nonframeshift deletion chr1 rs147889095 0.28 0.202205 0.2402 exonic ITPKB Reference - - - - - - - - ITPKB,NM_002221,exon2,c.276_284del,p.92_95del chr1 227068243 227068246 GACA - 5/3(0.38) 102 8 het unknown deletion chr1 - - - 0.2132 intronic PSEN2 Reference - - - - - - - - PSEN2 chr1 227222515 227222515 - ACAA 0/47(1.00) 2869 47 hom unknown insertion chr1 rs113874316 - 0.999281 0.4485 intronic CDC42BPA Reference - - - - - - - - CDC42BPA chr1 227381675 227381675 A - 8/9(0.53) 328 17 het unknown deletion chr1 rs35780410 0.25 0.207029 0.1765 intronic CDC42BPA Reference - - - - - - - - CDC42BPA chr1 227387826 227387826 - TTTGT 1/4(0.80) 197 5 het unknown insertion chr1 rs111506004 - - 0.2377 intronic CDC42BPA Reference - - - - - - - - CDC42BPA chr1 227834234 227834234 C - 1/119(0.99) 3011 120 hom unknown deletion chr1 rs78467777 0.69 - 0.4608 intronic ZNF678 Reference - - - - - - - - ZNF678 chr1 228461408 228461408 - G 0/21(1.00) 1144 21 hom unknown insertion chr1 rs35161421 - - 0.4853 intronic OBSCN Reference - - - - - - - - OBSCN chr1 229663065 229663069 AGGAA - 0/112(1.00) 3070 112 hom unknown deletion chr1 rs113712941 - - 0.4118 intronic ABCB10 Reference - - - - - - - - ABCB10 chr1 230459434 230459434 C - 5/8(0.62) 183 13 het unknown deletion chr1 rs35048134 0.38 - 0.3113 intronic PGBD5 Reference - - - - - - - - PGBD5 chr1 230804200 230804200 G - 3/3(0.50) 82 6 het unknown deletion chr1 rs77612122 0.06 - 0.0907 intronic COG2 Reference - - - - - - - - COG2 chr1 230819479 230819479 - T 6/10(0.62) 106 16 het unknown insertion chr1 - - - 0.3750 intronic COG2 Reference - - - - - - - - COG2 chr1 230820781 230820781 A - 0/31(1.00) 1284 31 hom unknown deletion chr1 rs3215851 0.30 0.320955 0.2868 intronic COG2 Reference - - - - - - - - COG2 chr1 230898615 230898615 - A 12/8(0.40) 212 20 het unknown insertion chr1 rs144109301 0.22 - 0.1985 intronic CAPN9 Reference - - - - - - - - CAPN9 chr1 230905361 230905376 ACCTATCTATCTATCT - 1/3(0.75) 96 4 het unknown deletion chr1 rs146545875 - - 0.0368 intronic CAPN9 Reference - - - - - - - - CAPN9 chr1 231081269 231081269 - A 16/15(0.48) 714 31 het unknown insertion chr1 rs141457550 0.13 0.054304 0.0882 intronic TTC13 Reference - - - - - - - - TTC13 chr1 231093786 231093786 T - 11/12(0.52) 165 23 het unknown deletion chr1 rs59207624 - - 0.3235 intronic TTC13 Reference - - - - - - - - TTC13 chr1 231700247 231700251 TTTTG - 20/8(0.29) 319 28 het unknown deletion chr1 rs139214482 0.03 0.061422 0.0319 ncRNA_intronic TSNAX-DISC1 Reference - - - - - - - - TSNAX-DISC1 chr1 232601294 232601295 AT - 0/13(1.00) 649 13 hom unknown deletion chr1 rs34645211 0.72 - 0.3235 intronic SIPA1L2 Reference - - - - - - - - SIPA1L2 chr1 233152916 233152919 CAGG - 1/3(0.75) 113 4 het unknown deletion chr1 rs199840506 0.21 0.225080 0.0662 intronic PCNXL2 Reference - - - - - - - - PCNXL2 chr1 233225958 233225958 A - 12/16(0.57) 196 28 het unknown deletion chr1 rs3215688 - - 0.1814 intronic PCNXL2 Reference - - - - - - - - PCNXL2 chr1 234564865 234564866 AA - 15/16(0.52) 552 31 het unknown deletion chr1 rs113924018 0.25 0.129837 0.1936 intronic TARBP1 Reference - - - - - - - - TARBP1 chr1 234565078 234565078 - AA 24/21(0.47) 271 45 het unknown insertion chr1 - - 0.096237 0.1912 intronic TARBP1 Reference - - - - - - - - TARBP1 chr1 234569032 234569032 - C 2/3(0.60) 134 5 het unknown insertion chr1 rs112979975 0.25 - 0.1789 intronic TARBP1 Reference - - - - - - - - TARBP1 chr1 235543479 235543496 TGTGTGTGTGTGTGTGTG - 18/13(0.42) 59 31 het unknown deletion chr1 - - - - intronic TBCE Reference - - - - - - - - TBCE chr1 235543477 235543496 TGTGTGTGTGTGTGTGTGTG - 18/13(0.42) 59 31 het unknown deletion chr1 - - - 0.0074 intronic TBCE Reference - - - - - - - - TBCE chr1 235600053 235600053 - C 5/3(0.38) 125 8 het unknown insertion chr1 rs60243825 0.48 - 0.3162 intronic TBCE Reference - - - - - - - - TBCE chr1 235918688 235918688 - AAAAG 7/12(0.63) 655 19 het unknown insertion chr1 rs71576487 - - 0.2990 intronic LYST Reference - - - - - - - - LYST chr1 236368391 236368391 - T 0/41(1.00) 2539 41 hom unknown insertion chr1 - 0.61 0.283581 0.4461 intronic GPR137B Reference - - - - - - - - GPR137B chr1 236389860 236389860 T - 0/33(1.00) 926 33 hom unknown deletion chr1 rs35475164 - - 0.3113 intronic ERO1LB Reference - - - - - - - - ERO1LB chr1 236433136 236433136 T - 0/17(1.00) 896 17 hom unknown deletion chr1 rs3834089 0.86 0.823027 0.3775 intronic ERO1LB Reference - - - - - - - - ERO1LB chr1 236902533 236902534 TT - 18/20(0.53) 194 38 het unknown deletion chr1 - - - 0.0784 intronic ACTN2 Reference - - - - - - - - ACTN2 chr1 236978992 236978992 - TCTG 0/41(1.00) 2527 41 hom unknown insertion chr1 rs5781924 0.80 0.730591 0.3922 intronic MTR Reference - - - - - - - - MTR chr1 237037232 237037234 CCC - 44/36(0.45) 1261 80 het unknown deletion chr1 rs200001208 0.15 - 0.2157 intronic MTR Reference - - - - - - - - MTR chr1 237037239 237037243 AGGGT - 43/36(0.46) 1711 79 het unknown deletion chr1 rs201508556 0.15 - 0.2206 intronic MTR Reference - - - - - - - - MTR chr1 237619875 237619875 - T 4/24(0.86) 153 28 het unknown insertion chr1 - - - 0.2892 intronic RYR2 Reference - - - - - - - - RYR2 chr1 237619875 237619875 - TT 4/24(0.86) 153 28 het unknown insertion chr1 - - - 0.0123 intronic RYR2 Reference - - - - - - - - RYR2 chr1 237632285 237632285 - T 0/17(1.00) 1028 17 hom unknown insertion chr1 rs35662567 0.74 - 0.3358 intronic RYR2 Reference - - - - - - - - RYR2 chr1 237632556 237632556 G - 16/3(0.16) 69 19 het unknown deletion chr1 - - - - intronic RYR2 Reference - - - - - - - - RYR2 chr1 237693610 237693610 - A 15/21(0.58) 126 36 het unknown insertion chr1 rs34521733 - - 0.3015 intronic RYR2 Reference - - - - - - - - RYR2 chr1 237817515 237817515 A - 0/21(1.00) 502 21 hom unknown deletion chr1 rs3831940 - - 0.3382 intronic RYR2 Reference - - - - - - - - RYR2 chr1 237872715 237872715 T - 0/16(1.00) 251 16 hom unknown deletion chr1 rs35261418 - - 0.3750 intronic RYR2 Reference - - - - - - - - RYR2 chr1 237965133 237965133 - T 12/34(0.74) 484 46 het unknown insertion chr1 rs35563566 - - 0.2917 intronic RYR2 Reference - - - - - - - - RYR2 chr1 240656852 240656852 - A 12/13(0.52) 614 25 het unknown insertion chr1 rs34695275 - - 0.2353 intronic GREM2 Reference - - - - - - - - GREM2 chr1 241663902 241663902 - GA 1/4(0.80) 177 5 het unknown insertion chr1 - - 0.175132 0.0564 intronic FH Reference - - - - - - - - FH chr1 241913062 241913062 - T 7/8(0.53) 279 15 het unknown insertion chr1 rs111415778 0.58 0.640393 0.4436 intronic WDR64 Reference - - - - - - - - WDR64 chr1 241935988 241935988 C - 5/7(0.58) 310 12 het unknown deletion chr1 rs35632793 0.41 - 0.3113 intronic WDR64 Reference - - - - - - - - WDR64 chr1 241958401 241958401 - TTGT 5/4(0.44) 185 9 het unknown insertion chr1 rs146518112 0.41 - 0.2794 intronic WDR64 Reference - - - - - - - - WDR64 chr1 242383170 242383170 - AC 13/11(0.46) 580 24 het unknown insertion chr1 - 0.53 - 0.3431 intronic PLD5 Reference - - - - - - - - PLD5 chr1 242511557 242511562 ACAAAG - 40/44(0.52) 2109 84 het unknown deletion chr1 rs112478548 0.64 - 0.3971 intronic PLD5 Reference - - - - - - - - PLD5 chr1 243335941 243335941 A - 10/9(0.47) 108 19 het unknown deletion chr1 rs74889777 0.39 - 0.3015 intronic CEP170 Reference - - - - - - - - CEP170 chr1 244552135 244552138 ATTT - 5/10(0.67) 467 15 het unknown deletion chr1 rs61095163 0.16 - 0.1593 intronic C1orf100 Reference - - - - - - - - C1orf100 chr1 244803207 244803207 T - 3/16(0.84) 37 19 het unknown deletion chr1 - - - - intronic C1orf101 Reference - - - - - - - - C1orf101 chr1 244803206 244803207 TT - 3/16(0.84) 37 19 het unknown deletion chr1 rs60280231 - - 0.2549 intronic C1orf101 Reference - - - - - - - - C1orf101 chr1 245133623 245133623 - CCTCC 0/20(1.00) 1216 20 hom unknown insertion chr1 rs145835471 - - 0.2696 intronic EFCAB2 Reference - - - - - - - - EFCAB2 chr1 245847716 245847716 G - 35/45(0.56) 1205 80 het unknown deletion chr1 rs149909437 0.09 0.033462 0.1495 intronic KIF26B Reference - - - - - - - - KIF26B chr1 246711817 246711817 A - 16/13(0.45) 396 29 het unknown deletion chr1 rs5782396 0.34 - 0.2892 intronic TFB2M Reference - - - - - - - - TFB2M chr1 246754778 246754778 - A 3/4(0.57) 144 7 het unknown insertion chr1 - - - 0.3701 intronic CNST Reference - - - - - - - - CNST chr1 246797714 246797714 - T 3/3(0.50) 49 6 het unknown insertion chr1 - - - 0.3456 intronic CNST Reference - - - - - - - - CNST chr1 246939610 246939610 - TATT 0/58(1.00) 3070 58 hom unknown insertion chr1 rs3838991 - - 0.3137 intergenic SCCPDH;LOC149134 Reference - - - - - - - - SCCPDH(dist=8170);LOC149134(dist=13309) chr1 247006169 247006169 - CTG 5/11(0.69) 605 16 het unknown insertion chr1 rs146446200 0.22 - 0.1593 intronic AHCTF1 Reference - - - - - - - - AHCTF1 chr1 247031193 247031193 A - 1/4(0.80) 187 5 het unknown deletion chr1 - - - 0.0147 intronic AHCTF1 Reference - - - - - - - - AHCTF1 chr1 247615262 247615262 A - 50/60(0.55) 2423 110 het frameshift deletion chr1 rs35305980 0.45 0.394745 0.4951 exonic OR2B11 Reference - - - - - - - - OR2B11,NM_001004492,exon1,c.23delT,p.F8fs chr1 247726823 247726826 TTTT - 45/51(0.53) 1354 96 het unknown deletion chr1 rs142922665 0.17 0.447188 0.1667 intronic GCSAML Reference - - - - - - - - GCSAML chr1 247921789 247921789 - GT 1/2(0.67) 77 3 het unknown insertion chr1 - - - 0.2255 upstream OR1C1 Reference - - - - - - - - OR1C1 chr1 247978542 247978544 AGG - 0/89(1.00) 3070 89 hom nonframeshift deletion chr1 rs35979231 0.98 0.684076 0.6789 exonic OR14A16 Reference - - - - - - - - OR14A16,NM_001001966,exon1,c.488_490del,p.163_164del chr1 248524800 248524801 AC - 3/5(0.62) 212 8 het unknown deletion chr1 rs71810965 - - 0.3382 upstream OR2T4 Reference - - - - - - - - OR2T4 chr1 248525328 248525328 - TA 124/45(0.27) 2281 169 het frameshift insertion chr1 rs61248663 0.35 - 0.3995 exonic OR2T4 Reference - - - - - - - - OR2T4,NM_001004696,exon1,c.446_447insTA,p.T149fs chr1 248525639 248525639 A - 83/88(0.51) 3070 171 het frameshift deletion chr1 rs34079073 0.34 - 0.3946 exonic OR2T4 Reference - - - - - - - - OR2T4,NM_001004696,exon1,c.757delA,p.I253fs chr1 248617153 248617153 - TG 39/6(0.13) 201 45 het unknown insertion chr1 rs140089153 - - 0.1912 downstream OR2T2 Reference - - - - - - - - OR2T2 chr1 248801945 248801951 CAGCACG - 61/103(0.63) 3070 164 het frameshift deletion chr1 rs143010547 - - 0.5760 exonic OR2T35 Reference - - - - - - - - OR2T35,NM_001001827,exon1,c.609_615del,p.203_205del chr1 248813651 248813653 AGA - 3/16(0.84) 785 19 het nonframeshift deletion chr1 rs113853731 0.22 - 0.2794 exonic OR2T27 Reference - - - - - - - - OR2T27,NM_001001824,exon1,c.533_535del,p.178_179del chr1 248814210 248814211 AT - 25/5(0.17) 147 30 het unknown deletion chr1 rs148876159 0.19 0.237384 0.1765 upstream OR2T27 Reference - - - - - - - - OR2T27 chr1 249145072 249145072 - A 0/11(1.00) 650 11 hom unknown insertion chr1 rs11434456 0.55 - 0.3333 intronic ZNF692 Reference - - - - - - - - ZNF692 chr2 271999 271999 A - 14/21(0.60) 44 35 het unknown deletion chr2 rs112400131 - - 0.1471 intronic ACP1 Reference - - - - - - - - ACP1 chr2 676478 676478 - GTAA 54/44(0.45) 2432 98 het unknown insertion chr2 rs3215297 - - 0.4485 intronic TMEM18 Reference - - - - - - - - TMEM18 chr2 1133188 1133188 - CACA 6/4(0.40) 182 10 het unknown insertion chr2 rs71392567 - - 0.2083 intronic SNTG2 Reference - - - - - - - - SNTG2 chr2 3358459 3358472 TTATGAAGTTAGAT - 0/27(1.00) 1448 27 hom unknown deletion chr2 rs146001084 - 0.989652 0.3971 intronic TSSC1 Reference - - - - - - - - TSSC1 chr2 3502909 3502909 - CTT 23/16(0.41) 851 39 het unknown insertion chr2 - 0.48 - 0.3480 intronic ADI1 Reference - - - - - - - - ADI1 chr2 3504291 3504306 TGTACCTGCCGCCGCA - 13/12(0.48) 547 25 het unknown deletion chr2 rs6146601 0.47 - 0.3480 intronic ADI1 Reference - - - - - - - - ADI1 chr2 3504893 3504893 - A 9/5(0.36) 200 14 het unknown insertion chr2 rs76073337 0.42 - 0.2574 intronic ADI1 Reference - - - - - - - - ADI1 chr2 3600013 3600016 CTCT - 7/6(0.46) 252 13 het unknown deletion chr2 rs151141402 0.19 - 0.1765 intronic RNASEH1 Reference - - - - - - - - RNASEH1 chr2 7001234 7001235 CG - 0/24(1.00) 1225 24 hom unknown deletion chr2 rs3085147 - - 0.3554 intronic CMPK2 Reference - - - - - - - - CMPK2 chr2 7001250 7001259 CACACACACC - 1/37(0.97) 1603 38 hom unknown deletion chr2 rs202012587 0.93 - 0.3407 intronic CMPK2 Reference - - - - - - - - CMPK2 chr2 7170389 7170398 TGTGTGTGTG - 0/4(1.00) 75 4 het unknown deletion chr2 - - - 0.0025 intronic RNF144A Reference - - - - - - - - RNF144A chr2 7170389 7170400 TGTGTGTGTGTG - 0/4(1.00) 75 4 het unknown deletion chr2 - - - 0.2598 intronic RNF144A Reference - - - - - - - - RNF144A chr2 7170389 7170402 TGTGTGTGTGTGTG - 0/4(1.00) 75 4 het unknown deletion chr2 - - - 0.0074 intronic RNF144A Reference - - - - - - - - RNF144A chr2 7540646 7540646 - A 21/10(0.32) 464 31 het unknown insertion chr2 rs5829105 0.83 - 0.3897 intergenic RNF144A;LOC100506274 Reference - - - - - - - - RNF144A(dist=356337);LOC100506274(dist=20746) chr2 9484562 9484565 AAAA - 0/26(1.00) 525 26 hom unknown deletion chr2 rs79044067 - - 0.3627 intronic ASAP2 Reference - - - - - - - - ASAP2 chr2 9630245 9630245 T - 3/6(0.67) 201 9 het unknown deletion chr2 rs3833563 0.06 - 0.0858 3-UTR ADAM17 Reference - - - - - - - - ADAM17 chr2 9667435 9667435 - C 1/3(0.75) 137 4 het unknown insertion chr2 rs201950550 0.05 - 0.0515 intronic ADAM17 Reference - - - - - - - - ADAM17 chr2 9983591 9983591 - G 0/33(1.00) 2035 33 hom unknown insertion chr2 rs72534552 - 0.998887 0.4363 5-UTR TAF1B Reference - - - - - - - - TAF1B chr2 10226306 10226306 - C 0/48(1.00) 2980 48 hom unknown insertion chr2 rs34098251 - - 0.3848 intergenic CYS1;RRM2 Reference - - - - - - - - RRM2(dist=36389);CYS1(dist=5768) chr2 10281903 10281903 - C 0/18(1.00) 1033 18 hom unknown insertion chr2 rs5829249 - - 0.4216 upstream C2orf48 Reference - - - - - - - - C2orf48 chr2 10762303 10762303 A - 0/54(1.00) 2472 54 hom unknown deletion chr2 rs70953325 - - 0.4216 intronic NOL10 Reference - - - - - - - - NOL10 chr2 10808776 10808776 - AA 0/29(1.00) 1783 29 hom unknown insertion chr2 - - 0.989598 0.3873 intronic NOL10 Reference - - - - - - - - NOL10 chr2 11273437 11273438 CA - 48/7(0.13) 169 55 het unknown deletion chr2 - - 0.160914 0.0098 5-UTR C2orf50 Reference - - - - - - - - C2orf50 chr2 11905637 11905637 T - 28/32(0.53) 610 60 het unknown deletion chr2 rs3214670 - - 0.2745 intronic LPIN1 Reference - - - - - - - - LPIN1 chr2 11944747 11944747 G - 6/5(0.45) 128 11 het unknown deletion chr2 rs111652164 0.13 0.262019 0.1691 intronic LPIN1 Reference - - - - - - - - LPIN1 chr2 15417281 15417282 TT - 0/14(1.00) 276 14 hom unknown deletion chr2 rs3214432 - - 0.3603 intronic NBAS Reference - - - - - - - - NBAS chr2 15491995 15491996 CA - 36/16(0.31) 650 52 het unknown deletion chr2 - - - 0.0931 intronic NBAS Reference - - - - - - - - NBAS chr2 20233259 20233260 GA - 1/3(0.75) 114 4 het unknown deletion chr2 rs146406746 0.16 - 0.1471 intronic LAPTM4A Reference - - - - - - - - LAPTM4A chr2 21252366 21252369 AGGA - 7/4(0.36) 120 11 het unknown deletion chr2 rs67556837 - - 0.3824 intronic APOB Reference - - - - - - - - APOB chr2 21255573 21255573 - CATCT 0/14(1.00) 839 14 hom unknown insertion chr2 rs10701091 - - 0.3775 intronic APOB Reference - - - - - - - - APOB chr2 24386925 24386925 - A 3/4(0.57) 81 7 het unknown insertion chr2 - 0.12 - 0.1716 intronic FAM228B Reference - - - - - - - - FAM228B chr2 24387178 24387178 - C 0/41(1.00) 2521 41 hom unknown insertion chr2 rs113322110 0.94 0.970857 0.4779 exonic FAM228B Reference - - - - - - - - FAM228B chr2 24550868 24550868 A - 8/23(0.74) 160 31 het unknown deletion chr2 rs67389058 - - 0.3775 intronic ITSN2 Reference - - - - - - - - ITSN2 chr2 24952740 24952740 - T 0/12(1.00) 713 12 hom unknown insertion chr2 rs11439247 - - 0.4461 intronic NCOA1 Reference - - - - - - - - NCOA1 chr2 26399178 26399178 - TCCCCTCA 55/68(0.55) 3070 123 het unknown insertion chr2 rs147118036 - 0.026213 0.0931 intronic GAREML Reference - - - - - - - - GAREML chr2 26700820 26700821 GG - 0/16(1.00) 601 16 hom unknown deletion chr2 rs140808607 0.98 - 0.4583 5-UTR OTOF Reference - - - - - - - - OTOF chr2 27169638 27169638 C - 0/27(1.00) 1448 27 hom unknown deletion chr2 rs3835821 0.66 - 0.3799 intronic DPYSL5 Reference - - - - - - - - DPYSL5 chr2 27262764 27262766 GGA - 0/84(1.00) 3070 84 hom unknown deletion chr2 rs146244277 - - 0.4877 intronic TMEM214 Reference - - - - - - - - TMEM214 chr2 27445315 27445315 - T 46/31(0.40) 1581 77 het unknown insertion chr2 rs3214689 0.11 - 0.1789 intronic CAD Reference - - - - - - - - CAD chr2 27522543 27522543 - CTATCTAT 9/7(0.44) 306 16 het unknown insertion chr2 - - - 0.0490 intronic TRIM54 Reference - - - - - - - - TRIM54 chr2 27535311 27535311 - G 0/115(1.00) 3070 115 hom unknown insertion chr2 rs80195355 - 0.999840 0.5000 intronic MPV17 Reference - - - - - - - - MPV17 chr2 27597806 27597807 TT - 2/8(0.80) 302 10 het unknown deletion chr2 rs3215365 0.14 - 0.1520 intronic SNX17 Reference - - - - - - - - SNX17 chr2 27656822 27656822 - A 46/31(0.40) 1680 77 het unknown insertion chr2 - - 0.564846 0.1691 intronic NRBP1 Reference - - - - - - - - NRBP1 chr2 27667520 27667520 - TTTG 4/4(0.50) 188 8 het unknown insertion chr2 rs10635082 - - 0.1495 intronic IFT172;KRTCAP3 Reference - - - - - - - - KRTCAP3;IFT172 chr2 27669342 27669342 T - 14/14(0.50) 528 28 het unknown deletion chr2 rs11333597 - - 0.1618 3-UTR KRTCAP3 Reference - - - - - - - - KRTCAP3 chr2 27806793 27806793 - T 10/8(0.44) 384 18 het unknown insertion chr2 rs145957642 0.14 - 0.1127 intronic ZNF512 Reference - - - - - - - - ZNF512 chr2 27852117 27852117 - GGTCTT 0/43(1.00) 2665 43 hom unknown insertion chr2 rs60089768 - - 0.4902 intronic GPN1 Reference - - - - - - - - GPN1 chr2 27852150 27852150 - G 28/29(0.51) 1108 57 het unknown insertion chr2 rs146892484 0.56 - 0.3922 intronic GPN1 Reference - - - - - - - - GPN1 chr2 28771453 28771454 TA - 0/13(1.00) 662 13 hom unknown deletion chr2 rs56019402 - - 0.3652 intronic PLB1 Reference - - - - - - - - PLB1 chr2 28804836 28804836 A - 10/14(0.58) 131 24 het unknown deletion chr2 rs5830085 - - 0.2819 intronic PLB1 Reference - - - - - - - - PLB1 chr2 28847666 28847666 - C 0/12(1.00) 674 12 hom unknown insertion chr2 rs75664806 - - 0.3750 intronic PLB1 Reference - - - - - - - - PLB1 chr2 28855918 28855918 - G 0/71(1.00) 3070 71 hom unknown insertion chr2 rs112781677 - - 0.5417 intronic PLB1 Reference - - - - - - - - PLB1 chr2 29129301 29129301 T - 28/30(0.52) 53 58 het unknown deletion chr2 rs36066576 - - 0.3554 intronic WDR43 Reference - - - - - - - - WDR43 chr2 29366875 29366875 - ACAG 0/30(1.00) 1846 30 hom unknown insertion chr2 rs3217572 0.70 - 0.5000 intronic CLIP4 Reference - - - - - - - - CLIP4 chr2 30862843 30862843 G - 21/15(0.42) 680 36 het unknown deletion chr2 rs150564049 0.21 - 0.2451 intronic LCLAT1 Reference - - - - - - - - LCLAT1 chr2 31572482 31572482 - G 0/33(1.00) 1650 33 hom unknown insertion chr2 - 0.87 - 0.4681 intronic XDH Reference - - - - - - - - XDH chr2 31805880 31805880 - G 0/55(1.00) 3070 55 hom unknown insertion chr2 - - - 0.5049 exonic SRD5A2 Reference - - - - - - - - SRD5A2 chr2 32362079 32362079 - TATA 11/5(0.31) 226 16 het unknown insertion chr2 rs10627985 0.59 0.357269 0.3137 intronic SPAST Reference - - - - - - - - SPAST chr2 32449872 32449872 T - 17/9(0.35) 146 26 het unknown deletion chr2 rs201259569 - - 0.2500 intronic NLRC4 Reference - - - - - - - - NLRC4 chr2 32481794 32481794 T - 8/12(0.60) 436 20 het unknown deletion chr2 rs11295492 0.38 0.585543 0.3260 intronic NLRC4 Reference - - - - - - - - NLRC4 chr2 33787977 33787980 CTAA - 0/21(1.00) 1102 21 hom unknown deletion chr2 rs10572554 - - 0.3824 3-UTR RASGRP3 Reference - - - - - - - - RASGRP3 chr2 33788061 33788062 TT - 2/4(0.67) 89 6 het unknown deletion chr2 rs147743629 - - 0.2451 3-UTR RASGRP3 Reference - - - - - - - - RASGRP3 chr2 33951855 33951858 AGAG - 4/2(0.33) 53 6 het unknown deletion chr2 rs3217585 0.29 - 0.1765 ncRNA_exonic MYADML Reference - - - - - - - - MYADML chr2 36605676 36605676 - T 3/4(0.57) 38 7 het unknown insertion chr2 rs111480313 - - 0.2819 intronic CRIM1 Reference - - - - - - - - CRIM1 chr2 36808290 36808290 - CAA 8/8(0.50) 416 16 het unknown insertion chr2 rs143722000 0.46 - 0.2426 intronic FEZ2 Reference - - - - - - - - FEZ2 chr2 37302557 37302557 A - 0/28(1.00) 683 28 hom unknown deletion chr2 rs34545380 0.99 - 0.3995 intronic HEATR5B Reference - - - - - - - - HEATR5B chr2 37373982 37373982 - T 0/52(1.00) 3070 52 hom unknown insertion chr2 rs75682085 - 0.932907 0.4314 intronic EIF2AK2 Reference - - - - - - - - EIF2AK2 chr2 37447627 37447627 - A 15/10(0.40) 201 25 het unknown insertion chr2 - 0.23 0.136713 0.1961 intronic CEBPZ Reference - - - - - - - - CEBPZ chr2 38179415 38179416 TG - 27/23(0.46) 1080 50 het unknown deletion chr2 rs141540819 0.07 - 0.0980 ncRNA_intronic RMDN2-AS1 Reference - - - - - - - - RMDN2-AS1 chr2 39050062 39050062 T - 0/35(1.00) 1515 35 hom unknown deletion chr2 rs34582261 - - 0.4779 intronic DHX57 Reference - - - - - - - - DHX57 chr2 39162786 39162786 T - 4/8(0.67) 159 12 het unknown deletion chr2 rs5830547 - - 0.1005 intronic ARHGEF33 Reference - - - - - - - - ARHGEF33 chr2 39224615 39224615 - T 0/13(1.00) 420 13 hom unknown insertion chr2 rs5830551 - 0.830213 0.3554 intronic SOS1 Reference - - - - - - - - SOS1 chr2 39519891 39519891 C - 12/15(0.56) 577 27 het unknown deletion chr2 rs143541023 0.05 - 0.0392 intronic MAP4K3 Reference - - - - - - - - MAP4K3 chr2 40655564 40655565 CA - 18/3(0.14) 47 21 het unknown deletion chr2 rs200981654 - - 0.0686 intronic SLC8A1 Reference - - - - - - - - SLC8A1 chr2 42180184 42180185 CT - 22/20(0.48) 938 42 het frameshift deletion chr2 - - - 0.0025 exonic C2orf91 Reference - - - - - - - - C2orf91,NM_001242815,exon2,c.251_252del,p.84_84del chr2 42719847 42719847 - G 0/52(1.00) 2896 52 hom unknown insertion chr2 rs113015907 - - 0.4167 intronic KCNG3 Reference - - - - - - - - KCNG3 chr2 42719860 42719860 - C 0/59(1.00) 3070 59 hom unknown insertion chr2 rs112592817 - - 0.3971 intronic KCNG3 Reference - - - - - - - - KCNG3 chr2 42996710 42996719 TGTGTGTGTG - 10/7(0.41) 296 17 het unknown deletion chr2 rs66633009 - - 0.2377 intronic HAAO Reference - - - - - - - - HAAO chr2 42996760 42996763 AGAG - 13/9(0.41) 391 22 het unknown deletion chr2 rs66779554 - - 0.3873 intronic HAAO Reference - - - - - - - - HAAO chr2 43817951 43817951 T - 14/20(0.59) 518 34 het unknown deletion chr2 rs35899859 0.28 - 0.2353 intronic THADA Reference - - - - - - - - THADA chr2 43919955 43919955 G - 2/3(0.60) 85 5 het unknown deletion chr2 rs149919085 0.07 - 0.1029 intronic PLEKHH2 Reference - - - - - - - - PLEKHH2 chr2 43931078 43931082 TTTGC - 8/4(0.33) 151 12 het unknown deletion chr2 - - - - intronic PLEKHH2 Reference - - - - - - - - PLEKHH2 chr2 44101215 44101215 A - 0/12(1.00) 620 12 hom unknown deletion chr2 rs10709506 - - 0.4706 intronic ABCG8 Reference - - - - - - - - ABCG8 chr2 44101649 44101649 - C 0/33(1.00) 1275 33 hom unknown insertion chr2 rs201493087 - - 0.1127 intronic ABCG8 Reference - - - - - - - - ABCG8 chr2 44123673 44123673 C - 0/37(1.00) 2000 37 hom unknown deletion chr2 rs3839036 0.93 - 0.4093 intronic LRPPRC Reference - - - - - - - - LRPPRC chr2 44569701 44569703 AAT - 11/6(0.35) 241 17 het unknown deletion chr2 rs61004197 0.34 0.648577 0.2500 intronic PREPL Reference - - - - - - - - PREPL chr2 45826527 45826527 T - 37/56(0.60) 2772 93 het unknown deletion chr2 rs35501868 0.23 - 0.2721 intronic SRBD1 Reference - - - - - - - - SRBD1 chr2 46069978 46069978 T - 14/11(0.44) 492 25 het unknown deletion chr2 rs59478793 0.03 - 0.0417 intronic PRKCE Reference - - - - - - - - PRKCE chr2 46070269 46070269 - C 16/13(0.45) 335 29 het unknown insertion chr2 rs3214783 0.23 0.198211 0.1716 intronic PRKCE Reference - - - - - - - - PRKCE chr2 46583281 46583281 - T 3/9(0.75) 471 12 het unknown insertion chr2 rs35508970 - - 0.1152 intronic EPAS1 Reference - - - - - - - - EPAS1 chr2 47600581 47600581 - T 10/7(0.41) 83 17 het unknown insertion chr2 rs200383246 0.02 - 0.0172 intronic EPCAM Reference - - - - - - - - EPCAM chr2 48040904 48040904 - A 23/17(0.42) 523 40 het unknown insertion chr2 - 0.82 0.962774 0.3946 intronic FBXO11 Reference - - - - - - - - FBXO11 chr2 54155188 54155188 - G 16/3(0.16) 91 19 het unknown insertion chr2 - - - 0.0613 intronic PSME4 Reference - - - - - - - - PSME4 chr2 54155189 54155189 - GACTGACTCCAAA 16/3(0.16) 88 19 het unknown insertion chr2 rs200164157 0.03 - 0.0613 intronic PSME4 Reference - - - - - - - - PSME4 chr2 55187297 55187297 - G 0/34(1.00) 1701 34 hom unknown insertion chr2 - - - 0.4632 intronic EML6 Reference - - - - - - - - EML6 chr2 55473387 55473388 AT - 0/59(1.00) 3070 59 hom unknown deletion chr2 rs3833559 0.65 - 0.3995 intronic MTIF2 Reference - - - - - - - - MTIF2 chr2 55566539 55566542 TATT - 4/3(0.43) 105 7 het unknown deletion chr2 rs71821845 0.55 - 0.3113 intronic CCDC88A Reference - - - - - - - - CCDC88A chr2 55582601 55582601 - TTGACACA 0/13(1.00) 776 13 hom unknown insertion chr2 - 0.82 - 0.3333 intronic CCDC88A Reference - - - - - - - - CCDC88A chr2 58392798 58392800 TTA - 0/60(1.00) 3070 60 hom unknown deletion chr2 rs148383677 0.24 - 0.2623 intronic FANCL Reference - - - - - - - - FANCL chr2 58453843 58453843 - A 1/19(0.95) 327 20 hom unknown insertion chr2 - - - 0.2157 intronic FANCL Reference - - - - - - - - FANCL chr2 61528299 61528299 - A 11/20(0.65) 671 31 het unknown insertion chr2 - 0.32 0.330479 0.3113 intronic USP34 Reference - - - - - - - - USP34 chr2 61538602 61538602 - AAAAGAGAAAGAAAAAGAAAA 9/8(0.47) 412 17 het unknown insertion chr2 rs141750762 - - 0.2598 intronic USP34 Reference - - - - - - - - USP34 chr2 61538613 61538613 - AAAA 14/8(0.36) 397 22 het unknown insertion chr2 - - - 0.1912 intronic USP34 Reference - - - - - - - - USP34 chr2 61538615 61538615 - AAAAA 15/8(0.35) 342 23 het unknown insertion chr2 - - - 0.1691 intronic USP34 Reference - - - - - - - - USP34 chr2 61570887 61570890 AAGT - 11/12(0.52) 553 23 het unknown deletion chr2 rs142525602 0.30 - 0.3284 intronic USP34 Reference - - - - - - - - USP34 chr2 62107376 62107376 - C 0/12(1.00) 713 12 hom unknown insertion chr2 rs5831625 - 0.978910 0.3775 intronic CCT4 Reference - - - - - - - - CCT4 chr2 62729747 62729747 - A 0/46(1.00) 1798 46 hom unknown insertion chr2 - 0.71 - 0.3627 intronic TMEM17 Reference - - - - - - - - TMEM17 chr2 64124441 64124442 AA - 3/2(0.40) 34 5 het unknown deletion chr2 rs140883775 0.08 - 0.0833 intronic VPS54 Reference - - - - - - - - VPS54 chr2 65245148 65245149 AT - 4/2(0.33) 52 6 het unknown deletion chr2 rs200284406 0.02 - 0.0392 intronic SLC1A4 Reference - - - - - - - - SLC1A4 chr2 65473931 65473938 AAATTTTC - 0/18(1.00) 951 18 hom unknown deletion chr2 rs58944514 - - 0.4118 intronic ACTR2 Reference - - - - - - - - ACTR2 chr2 65495573 65495573 - C 0/17(1.00) 1028 17 hom unknown insertion chr2 rs113048830 0.79 - 0.3554 intronic ACTR2 Reference - - - - - - - - ACTR2 chr2 68389482 68389483 TT - 51/40(0.44) 1549 91 het unknown deletion chr2 rs3217588 0.49 0.197013 0.3799 intronic PNO1 Reference - - - - - - - - PNO1 chr2 68444144 68444145 AC - 7/10(0.59) 419 17 het unknown deletion chr2 rs145681445 - - 0.0760 intronic PPP3R1 Reference - - - - - - - - PPP3R1 chr2 68444171 68444171 - ACGCAG 14/19(0.58) 1049 33 het unknown insertion chr2 - - 0.191187 0.2304 intronic PPP3R1 Reference - - - - - - - - PPP3R1 chr2 68615438 68615438 - G 0/16(1.00) 777 16 hom unknown insertion chr2 - 0.66 - 0.4069 intronic PLEK Reference - - - - - - - - PLEK chr2 69043265 69043265 T - 18/21(0.54) 262 39 het unknown deletion chr2 rs67399232 - - 0.3897 intronic ARHGAP25 Reference - - - - - - - - ARHGAP25 chr2 69300089 69300091 GAC - 11/10(0.48) 449 21 het unknown deletion chr2 rs67110959 0.16 - 0.1887 intronic ANTXR1 Reference - - - - - - - - ANTXR1 chr2 69420591 69420591 - CACA 2/8(0.80) 460 10 het unknown insertion chr2 - - - 0.1029 intronic ANTXR1 Reference - - - - - - - - ANTXR1 chr2 70164580 70164580 - AGGG 0/12(1.00) 713 12 hom unknown insertion chr2 rs113584133 0.53 - 0.3039 intronic MXD1 Reference - - - - - - - - MXD1 chr2 70676770 70676770 A - 33/41(0.55) 798 74 het unknown deletion chr2 rs71710818 - - 0.2819 3-UTR TGFA Reference - - - - - - - - TGFA chr2 70680212 70680212 T - 14/7(0.33) 284 21 het unknown deletion chr2 rs112692567 0.28 - 0.2672 intronic TGFA Reference - - - - - - - - TGFA chr2 70780806 70780806 - G 29/21(0.42) 765 50 het unknown insertion chr2 - - - 0.0270 intronic TGFA Reference - - - - - - - - TGFA chr2 71036759 71036760 CA - 3/3(0.50) 108 6 het unknown deletion chr2 rs3217143 0.67 - 0.3431 intronic CLEC4F Reference - - - - - - - - CLEC4F chr2 71062833 71062833 - C 0/64(1.00) 3070 64 hom splicing insertion chr2 rs72540731 - - 0.5613 splicing CD207 Reference - - - - - - - - CD207(NM_015717,exon2,c.73+1->G) chr2 71186963 71186963 A - 7/12(0.63) 565 19 het unknown deletion chr2 rs151116617 0.04 - 0.0466 intronic ATP6V1B1 Reference - - - - - - - - ATP6V1B1 chr2 71360735 71360735 - TCC 0/22(1.00) 1342 22 hom unknown insertion chr2 rs138856662 0.96 0.819177 0.4461 intronic MPHOSPH10 Reference - - - - - - - - MPHOSPH10 chr2 71708852 71708852 - CATCCATCCATCCATCCATT 0/16(1.00) 710 16 hom unknown insertion chr2 - - - 0.0613 intronic DYSF Reference - - - - - - - - DYSF chr2 72692272 72692272 - AG 0/85(1.00) 3070 85 hom unknown insertion chr2 rs5832083 0.99 0.996521 0.4632 intronic EXOC6B Reference - - - - - - - - EXOC6B chr2 72742086 72742087 AC - 0/13(1.00) 311 13 het unknown deletion chr2 - - - - intronic EXOC6B Reference - - - - - - - - EXOC6B chr2 72742084 72742087 ACAC - 0/13(1.00) 311 13 het unknown deletion chr2 - - - 0.0025 intronic EXOC6B Reference - - - - - - - - EXOC6B chr2 73195838 73195841 TTCC - 6/5(0.45) 203 11 het unknown deletion chr2 rs145621622 0.76 - 0.3676 intronic SFXN5 Reference - - - - - - - - SFXN5 chr2 73675227 73675227 - CTC 0/102(1.00) 3070 102 hom nonframeshift insertion chr2 rs147096460 - 0.551065 0.6005 exonic ALMS1 Reference - - - - - - - - ALMS1,NM_015120,exon8,c.1570_1571insCTC,p.S524delinsSP chr2 74599000 74599002 AAG - 8/9(0.53) 406 17 het unknown deletion chr2 rs146355915 0.83 - 0.3456 intronic DCTN1 Reference - - - - - - - - DCTN1 chr2 74649917 74649917 C - 8/7(0.47) 190 15 het unknown deletion chr2 rs200949812 0.64 - 0.0809 intronic WDR54 Reference - - - - - - - - WDR54 chr2 74687258 74687258 - CACATTT 101/109(0.52) 3070 210 het unknown insertion chr2 rs113321228 0.80 - 0.4706 ncRNA_intronic INO80B-WBP1 Reference - - - - - - - - INO80B-WBP1 chr2 74756111 74756111 - A 41/44(0.52) 798 85 het unknown insertion chr2 rs111885340 - 0.280666 0.5025 intronic AUP1 Reference - - - - - - - - AUP1 chr2 75100873 75100873 - AGGAGG 5/6(0.55) 302 11 het unknown insertion chr2 - - - 0.1029 intronic HK2 Reference - - - - - - - - HK2 chr2 79253988 79253998 TAGGGGAAAGT - 58/6(0.09) 97 64 het unknown deletion chr2 - - - 0.0490 intronic REG3G Reference - - - - - - - - REG3G chr2 79254001 79254005 ATGCA - 60/6(0.09) 84 66 het unknown deletion chr2 - - 0.038574 0.0539 intronic REG3G Reference - - - - - - - - REG3G chr2 80101516 80101516 A - 6/8(0.57) 57 14 het unknown deletion chr2 rs56849709 - 0.194525 0.1176 intronic CTNNA2 Reference - - - - - - - - CTNNA2 chr2 84755996 84755996 - T 0/18(1.00) 97 18 het unknown insertion chr2 rs113333424 - - 0.3529 intronic DNAH6 Reference - - - - - - - - DNAH6 chr2 84755996 84755996 - TT 0/18(1.00) 97 18 het unknown insertion chr2 - - - 0.0245 intronic DNAH6 Reference - - - - - - - - DNAH6 chr2 86107952 86107952 A - 0/13(1.00) 216 13 hom unknown deletion chr2 rs34410645 - - 0.3505 intronic ST3GAL5 Reference - - - - - - - - ST3GAL5 chr2 86364707 86364707 G - 0/18(1.00) 761 18 hom unknown deletion chr2 rs56274257 0.98 0.876298 0.5074 3-UTR PTCD3 Reference - - - - - - - - PTCD3 chr2 86992337 86992337 - AA 0/31(1.00) 1909 31 hom unknown insertion chr2 rs10660251 0.90 - 0.4510 intronic RMND5A Reference - - - - - - - - RMND5A chr2 86998942 86998945 TAAA - 4/7(0.64) 313 11 het unknown deletion chr2 rs75707193 0.11 - 0.1078 intronic RMND5A Reference - - - - - - - - RMND5A chr2 87015633 87015633 - GA 0/60(1.00) 3070 60 hom unknown insertion chr2 rs71378806 0.98 0.833573 0.4877 intronic CD8A Reference - - - - - - - - CD8A chr2 87016922 87016922 - CGCCCC 39/25(0.39) 1264 64 het unknown insertion chr2 rs142496274 - 0.170963 0.1471 intronic CD8A Reference - - - - - - - - CD8A chr2 95830737 95830737 - A 0/25(1.00) 1094 25 hom unknown insertion chr2 - - - 0.3431 upstream ZNF2 Reference - - - - - - - - ZNF2 chr2 95847041 95847043 GCG - 0/113(1.00) 3070 113 hom nonframeshift deletion chr2 rs10578519 - 0.990877 0.6765 exonic ZNF2 Reference - - - - - - - - ZNF2,NM_001017396,exon4,c.342_344del,p.114_115del;ZNF2,NM_001282398,exon4,c.354_356del,p.118_119del;ZNF2,NM_021088,exon5,c.468_470del,p.156_157del chr2 96601296 96601296 - TGATTAAT 36/47(0.57) 2649 83 het unknown insertion chr2 rs145876416 - - 0.4069 intergenic LINC00342;FAHD2CP Reference - - - - - - - - FAHD2CP(dist=75003);LINC00342(dist=108567) chr2 96610395 96610395 - A 59/15(0.20) 584 74 het unknown insertion chr2 rs147285461 - - 0.2672 intergenic LINC00342;FAHD2CP Reference - - - - - - - - FAHD2CP(dist=65904);LINC00342(dist=117666) chr2 96610787 96610787 - A 9/9(0.50) 268 18 het unknown insertion chr2 - - - 0.1520 intergenic LINC00342;FAHD2CP Reference - - - - - - - - FAHD2CP(dist=65512);LINC00342(dist=118058) chr2 96610806 96610811 AGAAAG - 23/10(0.30) 291 33 het unknown deletion chr2 - - - 0.1029 intergenic LINC00342;FAHD2CP Reference - - - - - - - - FAHD2CP(dist=65488);LINC00342(dist=118077) chr2 96610807 96610811 GAAAG - 23/15(0.39) 627 38 het unknown deletion chr2 - - - 0.0441 intergenic LINC00342;FAHD2CP Reference - - - - - - - - FAHD2CP(dist=65488);LINC00342(dist=118078) chr2 96610811 96610811 G - 23/9(0.28) 238 32 het unknown deletion chr2 - - - 0.0392 intergenic LINC00342;FAHD2CP Reference - - - - - - - - FAHD2CP(dist=65488);LINC00342(dist=118082) chr2 97817564 97817564 - T 0/19(1.00) 1167 19 hom unknown insertion chr2 rs145087178 0.99 0.996162 0.1176 intronic ANKRD36 Reference - - - - - - - - ANKRD36 chr2 97833401 97833401 - ATTAATCA 52/5(0.09) 94 57 het unknown insertion chr2 rs5832832 - 0.220983 0.0098 intronic ANKRD36 Reference - - - - - - - - ANKRD36 chr2 97877469 97877470 TC - 81/43(0.35) 1963 124 het frameshift deletion chr2 rs141478865 0.05 - 0.0637 exonic ANKRD36 Reference - - - - - - - - ANKRD36,NM_001164315,exon58,c.3460_3461del,p.1154_1154del chr2 98376990 98376990 A - 10/10(0.50) 302 20 het unknown deletion chr2 rs3214760 0.30 - 0.2157 intronic TMEM131 Reference - - - - - - - - TMEM131 chr2 99160509 99160510 CA - 6/10(0.62) 459 16 het unknown deletion chr2 rs3217304 - - 0.2549 intronic INPP4A Reference - - - - - - - - INPP4A chr2 99181316 99181316 T - 20/23(0.53) 1101 43 het unknown deletion chr2 rs3214545 0.27 - 0.2721 intronic INPP4A Reference - - - - - - - - INPP4A chr2 99234589 99234589 - A 11/12(0.52) 646 23 het unknown insertion chr2 - - 0.028822 0.0221 intronic UNC50 Reference - - - - - - - - UNC50 chr2 99725479 99725479 - T 7/6(0.46) 299 13 het unknown insertion chr2 rs11396964 - 0.578153 0.3775 intronic TSGA10 Reference - - - - - - - - TSGA10 chr2 99859954 99859954 - AGATAGAT 2/4(0.67) 194 6 het unknown insertion chr2 - - - 0.0441 intronic LYG2 Reference - - - - - - - - LYG2 chr2 99977163 99977172 AGGAATGTAA - 1/3(0.75) 113 4 het unknown deletion chr2 rs72036435 0.63 - 0.2892 intronic EIF5B Reference - - - - - - - - EIF5B chr2 100006904 100006904 - A 12/7(0.37) 212 19 het unknown insertion chr2 - - 0.157624 0.0515 intronic EIF5B Reference - - - - - - - - EIF5B chr2 100018358 100018358 - C 2/3(0.60) 51 5 het unknown insertion chr2 - - - 0.2206 intronic REV1 Reference - - - - - - - - REV1 chr2 100454072 100454072 - T 50/29(0.37) 1548 79 het unknown insertion chr2 rs5832886 0.65 - 0.3824 intronic AFF3 Reference - - - - - - - - AFF3 chr2 101188373 101188373 - CTGTGTATGAGTGA 0/30(1.00) 1832 30 hom unknown insertion chr2 rs138885839 0.98 - 0.5294 intronic PDCL3 Reference - - - - - - - - PDCL3 chr2 101581294 101581294 - TT 23/16(0.41) 108 39 het unknown insertion chr2 rs11473114 - - 0.1544 intronic NPAS2 Reference - - - - - - - - NPAS2 chr2 101581496 101581496 T - 17/19(0.53) 901 36 het unknown deletion chr2 rs60563199 0.36 - 0.2770 intronic NPAS2 Reference - - - - - - - - NPAS2 chr2 101582246 101582259 GCCCAGGCATGGGG - 28/8(0.22) 299 36 het unknown deletion chr2 rs3841571 0.40 0.142310 0.3529 intronic NPAS2 Reference - - - - - - - - NPAS2 chr2 101591538 101591540 CTC - 9/4(0.31) 142 13 het unknown deletion chr2 rs3217562 0.31 - 0.2672 intronic NPAS2 Reference - - - - - - - - NPAS2 chr2 101620857 101620857 A - 20/27(0.57) 285 47 het unknown deletion chr2 rs34386800 - - 0.1422 intronic RPL31 Reference - - - - - - - - RPL31 chr2 101622696 101622696 - G 35/14(0.29) 603 49 het unknown insertion chr2 rs34763346 0.17 - 0.1716 3-UTR RPL31 Reference - - - - - - - - RPL31 chr2 102026879 102026879 - CACT 3/3(0.50) 108 6 het unknown insertion chr2 - - - 0.2132 intronic RFX8 Reference - - - - - - - - RFX8 chr2 102448165 102448165 T - 13/11(0.46) 330 24 het unknown deletion chr2 rs149086802 0.03 0.063051 0.0417 intronic MAP4K4 Reference - - - - - - - - MAP4K4 chr2 102785158 102785158 - T 13/7(0.35) 37 20 het unknown insertion chr2 - - - 0.1152 intronic IL1R1 Reference - - - - - - - - IL1R1 chr2 103300212 103300214 CTC - 0/17(1.00) 896 17 hom unknown deletion chr2 rs72314227 0.84 - 0.3407 intronic SLC9A2 Reference - - - - - - - - SLC9A2 chr2 105953938 105953938 - C 14/7(0.33) 337 21 het unknown insertion chr2 - 0.78 - 0.4289 5-UTR C2orf49 Reference - - - - - - - - C2orf49 chr2 106780055 106780055 - TG 0/26(1.00) 1594 26 hom unknown insertion chr2 rs10631203 - 0.976880 0.3873 intronic UXS1 Reference - - - - - - - - UXS1 chr2 107121040 107121040 - A 2/46(0.96) 1200 48 hom unknown insertion chr2 rs146000492 0.92 - 0.3799 intergenic RGPD3;ST6GAL2 Reference - - - - - - - - RGPD3(dist=36239);ST6GAL2(dist=297016) chr2 109393523 109393523 G - 0/16(1.00) 642 16 hom unknown deletion chr2 rs58272304 - - 0.3897 intronic RANBP2 Reference - - - - - - - - RANBP2 chr2 110886686 110886686 - GACCAGAT 0/40(1.00) 2476 40 hom unknown insertion chr2 rs3838315 - - 0.3578 intronic NPHP1 Reference - - - - - - - - NPHP1 chr2 110925983 110925983 A - 48/15(0.24) 47 63 het unknown deletion chr2 - - - 0.0123 intronic NPHP1 Reference - - - - - - - - NPHP1 chr2 111721172 111721172 G - 26/33(0.56) 1378 59 het unknown deletion chr2 - - - 0.2402 intronic ACOXL Reference - - - - - - - - ACOXL chr2 111721174 111721180 GTGTGTG - 29/34(0.54) 1407 63 het unknown deletion chr2 - - - 0.2059 intronic ACOXL Reference - - - - - - - - ACOXL chr2 112582767 112582768 TT - 11/18(0.62) 711 29 het unknown deletion chr2 rs60136848 0.16 0.236051 0.1936 intronic ANAPC1 Reference - - - - - - - - ANAPC1 chr2 112592149 112592149 C - 17/8(0.32) 258 25 het unknown deletion chr2 rs143082348 0.10 0.066712 0.1029 intronic ANAPC1 Reference - - - - - - - - ANAPC1 chr2 112614871 112614871 - G 3/3(0.50) 111 6 het unknown insertion chr2 - - - 0.2279 intronic ANAPC1 Reference - - - - - - - - ANAPC1 chr2 112725684 112725684 - TGTGTG 28/18(0.39) 934 46 het unknown insertion chr2 rs113538397 - 0.533142 0.2353 intronic MERTK Reference - - - - - - - - MERTK chr2 112832536 112832538 AAT - 12/9(0.43) 394 21 het nonframeshift deletion chr2 rs71385858 0.13 0.333040 0.1716 exonic TMEM87B Reference - - - - - - - - TMEM87B,NM_032824,exon5,c.498_500del,p.166_167del chr2 112940144 112940146 CTC - 2/3(0.60) 111 5 het unknown deletion chr2 rs72171007 0.34 - 0.2206 intronic FBLN7 Reference - - - - - - - - FBLN7 chr2 113082251 113082251 T - 22/11(0.33) 266 33 het unknown deletion chr2 rs59100751 0.78 0.478362 0.3824 intronic ZC3H6 Reference - - - - - - - - ZC3H6 chr2 113479746 113479746 C - 9/9(0.50) 237 18 het unknown deletion chr2 rs34781106 - - 0.4191 intergenic SLC20A1;CKAP2L Reference - - - - - - - - CKAP2L(dist=15698);SLC20A1(dist=58346) chr2 113480557 113480557 C - 15/14(0.48) 472 29 het unknown deletion chr2 rs34912983 0.70 - 0.3971 intergenic SLC20A1;CKAP2L Reference - - - - - - - - SLC20A1(dist=59157);CKAP2L(dist=14887) chr2 113480938 113480938 - CACACACACACACACA 4/3(0.43) 127 7 het unknown insertion chr2 - - - 0.0441 intergenic SLC20A1;CKAP2L Reference - - - - - - - - CKAP2L(dist=14506);SLC20A1(dist=59538) chr2 113953973 113953973 - T 0/16(1.00) 964 16 hom unknown insertion chr2 - 0.62 - 0.3333 intronic PSD4 Reference - - - - - - - - PSD4 chr2 113953975 113953977 ACA - 0/16(1.00) 841 16 hom unknown deletion chr2 rs202100081 0.62 - 0.3897 intronic PSD4 Reference - - - - - - - - PSD4 chr2 118753148 118753148 - TC 0/17(1.00) 1028 17 hom unknown insertion chr2 rs147857239 - 0.967737 0.3971 intronic CCDC93 Reference - - - - - - - - CCDC93 chr2 118764242 118764242 - A 0/32(1.00) 1972 32 hom unknown insertion chr2 - - - 0.3701 intronic CCDC93 Reference - - - - - - - - CCDC93 chr2 118854094 118854094 - TT 20/10(0.33) 35 30 het unknown insertion chr2 - - - - 5-UTR INSIG2 Reference - - - - - - - - INSIG2 chr2 118866033 118866033 - A 11/9(0.45) 467 20 het unknown insertion chr2 rs11407321 0.37 - 0.2770 3-UTR INSIG2 Reference - - - - - - - - INSIG2 chr2 119915133 119915133 G - 0/20(1.00) 761 20 hom unknown deletion chr2 rs11308896 0.96 0.961132 0.5613 intronic C1QL2 Reference - - - - - - - - C1QL2 chr2 120059895 120059895 - GAAA 3/4(0.57) 191 7 het unknown insertion chr2 rs16744 0.44 - 0.2672 downstream C2orf76 Reference - - - - - - - - C2orf76 chr2 120194651 120194651 - GTGTGC 0/32(1.00) 1972 32 hom nonframeshift insertion chr2 rs3217464 - 0.885210 0.6397 exonic TMEM37 Reference - - - - - - - - TMEM37,NM_183240,exon2,c.208_209insGTGTGC,p.T70delinsSVP chr2 120404630 120404630 T - 6/62(0.91) 597 68 hom unknown deletion chr2 rs11349518 - - 0.4069 intronic PCDP1 Reference - - - - - - - - PCDP1 chr2 120776973 120776973 G - 0/11(1.00) 565 11 hom unknown deletion chr2 rs3216703 0.67 - 0.3725 intronic EPB41L5 Reference - - - - - - - - EPB41L5 chr2 121989684 121989693 TTTTGTTTTG - 1/3(0.75) 113 4 het unknown deletion chr2 rs200655030 - - 0.1936 intronic TFCP2L1 Reference - - - - - - - - TFCP2L1 chr2 122494661 122494661 - G 3/3(0.50) 131 6 het unknown insertion chr2 rs28372755 0.27 - 0.1127 upstream NIFK Reference - - - - - - - - NIFK chr2 127811712 127811712 - CA 8/6(0.43) 296 14 het unknown insertion chr2 rs138460912 0.40 - 0.2941 intronic BIN1 Reference - - - - - - - - BIN1 chr2 127816847 127816848 TG - 10/13(0.57) 609 23 het unknown deletion chr2 rs140171337 - - 0.2475 intronic BIN1 Reference - - - - - - - - BIN1 chr2 128181235 128181235 C - 4/6(0.60) 171 10 het unknown deletion chr2 rs2069922 0.58 - 0.3750 intronic PROC Reference - - - - - - - - PROC chr2 128350578 128350578 - G 0/37(1.00) 2169 37 hom unknown insertion chr2 rs111486874 - - 0.4975 intronic MYO7B Reference - - - - - - - - MYO7B chr2 128363530 128363530 - C 0/22(1.00) 1272 22 hom unknown insertion chr2 rs77250827 - - 0.4314 intronic MYO7B Reference - - - - - - - - MYO7B chr2 128890878 128890878 - G 0/100(1.00) 3070 100 hom unknown insertion chr2 rs34066685 0.64 0.584012 0.4534 intronic UGGT1 Reference - - - - - - - - UGGT1 chr2 130751254 130751254 - C 29/7(0.19) 170 36 het unknown insertion chr2 rs113353737 - - 0.0588 intergenic RAB6C;FAR2P1 Reference - - - - - - - - RAB6C(dist=10943);FAR2P1(dist=32318) chr2 132120501 132120501 - T 0/55(1.00) 1915 55 hom unknown insertion chr2 rs146351322 0.77 - 0.4681 3-UTR WTH3DI Reference - - - - - - - - WTH3DI chr2 133014525 133014525 - C 36/35(0.49) 1950 71 het unknown insertion chr2 rs78092867 - - 0.2083 ncRNA_intronic ANKRD30BL Reference - - - - - - - - ANKRD30BL chr2 133014651 133014651 - C 47/71(0.60) 3070 118 het unknown insertion chr2 - - - 0.3897 ncRNA_exonic MIR663B Reference - - - - - - - - MIR663B chr2 133014827 133014827 - A 24/8(0.25) 342 32 het unknown insertion chr2 rs146639319 - - 0.2279 ncRNA_intronic ANKRD30BL Reference - - - - - - - - ANKRD30BL chr2 133038594 133038597 AAAT - 2/13(0.87) 632 15 het unknown deletion chr2 - - - 0.1201 intergenic ANKRD30BL;GPR39 Reference - - - - - - - - GPR39(dist=135550);ANKRD30BL(dist=23052) chr2 133038599 133038609 AACCATGTTCA - 2/13(0.87) 630 15 het unknown deletion chr2 - - - 0.1201 intergenic ANKRD30BL;GPR39 Reference - - - - - - - - ANKRD30BL(dist=23057);GPR39(dist=135538) chr2 133636208 133636229 CACACACACACACACACACACG - 1/4(0.80) 91 5 het unknown deletion chr2 - - - - intronic NCKAP5 Reference - - - - - - - - NCKAP5 chr2 133636210 133636229 CACACACACACACACACACG - 1/4(0.80) 91 5 het unknown deletion chr2 - - - 0.1348 intronic NCKAP5 Reference - - - - - - - - NCKAP5 chr2 133881385 133881385 - A 53/40(0.43) 1732 93 het unknown insertion chr2 - - - - intronic NCKAP5 Reference - - - - - - - - NCKAP5 chr2 135098837 135098837 - C 1/3(0.75) 127 4 het unknown insertion chr2 rs139784357 0.24 - 0.1373 intronic MGAT5 Reference - - - - - - - - MGAT5 chr2 135102454 135102454 A - 13/13(0.50) 463 26 het unknown deletion chr2 rs3214771 0.31 0.290815 0.2770 intronic MGAT5 Reference - - - - - - - - MGAT5 chr2 135214419 135214419 T - 7/8(0.53) 98 15 het unknown deletion chr2 rs56024138 - 0.166132 0.2304 intronic TMEM163 Reference - - - - - - - - TMEM163 chr2 135748877 135748877 - AAAAC het unknown insertion chr2 - - - - intronic MAP3K19 Reference - - - - - - - - MAP3K19 chr2 135748873 135748877 AAAAC - 1/6(0.86) 148 7 het unknown deletion chr2 rs144837592 - - 0.0882 intronic MAP3K19 Reference - - - - - - - - MAP3K19 chr2 136579510 136579517 TATAAGAT - 4/3(0.43) 105 7 het unknown deletion chr2 rs3835801 0.19 - 0.1618 ncRNA_exonic LOC100507600 Reference - - - - - - - - LOC100507600 chr2 137640007 137640007 T - 3/5(0.62) 83 8 het unknown deletion chr2 rs11298935 - - 0.2892 intergenic CXCR4;THSD7B Reference - - - - - - - - THSD7B(dist=108455);CXCR4(dist=764282) chr2 138378352 138378352 G - 23/19(0.45) 883 42 het unknown deletion chr2 rs58339575 0.08 - 0.0539 intronic THSD7B Reference - - - - - - - - THSD7B chr2 139308397 139308397 - TC 1/5(0.83) 236 6 het unknown insertion chr2 - - - 0.0686 intronic SPOPL Reference - - - - - - - - SPOPL chr2 141474402 141474402 - A 0/63(1.00) 1946 63 hom unknown insertion chr2 - - 0.563189 0.3358 intronic LRP1B Reference - - - - - - - - LRP1B chr2 141571456 141571456 - A 4/4(0.50) 73 8 het unknown insertion chr2 rs78112099 - - 0.3113 intronic LRP1B Reference - - - - - - - - LRP1B chr2 141598473 141598473 - T 0/50(1.00) 3013 50 hom unknown insertion chr2 rs35745624 - 0.978198 0.4265 intronic LRP1B Reference - - - - - - - - LRP1B chr2 141607973 141607977 TTGAT - 4/5(0.56) 209 9 het unknown deletion chr2 rs140906089 0.08 - 0.0588 intronic LRP1B Reference - - - - - - - - LRP1B chr2 141625833 141625833 C - 8/2(0.20) 51 10 het splicing deletion chr2 - - - 0.0025 splicing LRP1B Reference - - - - - - - - LRP1B(NM_018557,exon27,c.4170-1G>-) chr2 142567731 142567732 AA - 14/9(0.39) 293 23 het unknown deletion chr2 rs72289937 - - 0.0980 intronic LRP1B Reference - - - - - - - - LRP1B chr2 144244913 144244913 A - 7/8(0.53) 257 15 het unknown deletion chr2 rs3839037 0.27 0.043457 0.2451 intronic ARHGAP15 Reference - - - - - - - - ARHGAP15 chr2 145162626 145162626 G - 35/36(0.51) 1355 71 het unknown deletion chr2 - - - - intronic ZEB2 Reference - - - - - - - - ZEB2 chr2 148733548 148733548 - A 0/12(1.00) 384 12 hom unknown insertion chr2 rs5835177 0.61 0.661948 0.3284 intronic ORC4 Reference - - - - - - - - ORC4 chr2 149240658 149240658 T - 18/22(0.55) 180 40 het unknown deletion chr2 rs5835195 - - 0.5123 intronic MBD5 Reference - - - - - - - - MBD5 chr2 149246906 149246906 - T 16/17(0.52) 931 33 het unknown insertion chr2 rs112498536 0.16 0.095831 0.1936 intronic MBD5 Reference - - - - - - - - MBD5 chr2 151328285 151328285 A - 2/35(0.95) 430 37 het unknown deletion chr2 rs11338446 - - 0.4191 intronic RND3 Reference - - - - - - - - RND3 chr2 151900397 151900402 AAAAAC - 0/13(1.00) 564 13 het unknown deletion chr2 - - - 0.0049 intergenic RND3;RBM43 Reference - - - - - - - - RBM43(dist=204326);RND3(dist=556188) chr2 151900391 151900402 AAAAACAAAAAC - 0/13(1.00) 564 13 het unknown deletion chr2 rs150701043 - - 0.2206 intergenic RND3;RBM43 Reference - - - - - - - - RND3(dist=556182);RBM43(dist=204326) chr2 152118338 152118338 - T 36/33(0.48) 1072 69 het unknown insertion chr2 rs113906824 0.58 0.678501 0.4118 5-UTR RBM43 Reference - - - - - - - - RBM43 chr2 152318714 152318716 ATC - 1/7(0.88) 322 8 het unknown deletion chr2 rs59316798 0.34 0.224890 0.2304 intronic RIF1 Reference - - - - - - - - RIF1 chr2 152388416 152388416 T - 11/11(0.50) 406 22 het unknown deletion chr2 rs56026241 0.62 0.547741 0.3652 intronic NEB Reference - - - - - - - - NEB chr2 152396726 152396726 - A 0/20(1.00) 669 20 hom unknown insertion chr2 rs76710630 0.78 - 0.3676 intronic NEB Reference - - - - - - - - NEB chr2 152473986 152473986 C - 4/2(0.33) 52 6 het unknown deletion chr2 - - - - intronic NEB Reference - - - - - - - - NEB chr2 152684704 152684704 - C 10/11(0.52) 205 21 het unknown insertion chr2 rs150910136 - - 0.2426 5-UTR ARL5A Reference - - - - - - - - ARL5A chr2 152988610 152988610 - T 2/65(0.97) 3070 67 hom unknown insertion chr2 rs5835408 0.85 0.408517 0.4044 intronic STAM2 Reference - - - - - - - - STAM2 chr2 152992165 152992165 - AATA 0/14(1.00) 839 14 hom unknown insertion chr2 - 0.58 0.017153 0.3137 intronic STAM2 Reference - - - - - - - - STAM2 chr2 153415234 153415234 - G 0/54(1.00) 3070 54 hom unknown insertion chr2 rs200953857 0.55 0.325079 0.3260 intronic FMNL2 Reference - - - - - - - - FMNL2 chr2 153471255 153471255 - CAAAACAAAACAAAACAAAA 5/3(0.38) 124 8 het unknown insertion chr2 - - - - intronic FMNL2 Reference - - - - - - - - FMNL2 chr2 153576580 153576580 - TTTC 8/20(0.71) 1136 28 het unknown insertion chr2 - - - 0.3407 intronic ARL6IP6 Reference - - - - - - - - ARL6IP6 chr2 155555195 155555195 - C 5/4(0.44) 115 9 het unknown insertion chr2 - 0.04 - 0.0245 5-UTR KCNJ3 Reference - - - - - - - - KCNJ3 chr2 157183212 157183212 C - 19/20(0.51) 736 39 het unknown deletion chr2 rs35479735 0.46 0.822632 0.3848 intronic NR4A2 Reference - - - - - - - - NR4A2 chr2 159035344 159035344 - T 0/30(1.00) 904 30 hom unknown insertion chr2 rs80051608 - 0.189856 0.3333 ncRNA_intronic CCDC148-AS1 Reference - - - - - - - - CCDC148-AS1 chr2 160132196 160132196 - C 6/10(0.62) 268 16 het unknown insertion chr2 rs35620648 - - 0.2696 intronic WDSUB1 Reference - - - - - - - - WDSUB1 chr2 160636330 160636330 - TCT 2/5(0.71) 254 7 het unknown insertion chr2 rs34695240 0.28 - 0.1936 intronic CD302;LY75-CD302 Reference - - - - - - - - CD302;LY75-CD302 chr2 160676445 160676445 - T 8/7(0.47) 196 15 het unknown insertion chr2 rs36120198 - - 0.3725 intronic LY75;LY75-CD302 Reference - - - - - - - - LY75;LY75-CD302 chr2 160872990 160872991 GT - 0/42(1.00) 2248 42 hom unknown deletion chr2 rs143201024 0.72 - 0.2941 intronic PLA2R1 Reference - - - - - - - - PLA2R1 chr2 162224193 162224193 - T 0/47(1.00) 2081 47 hom unknown insertion chr2 rs76686031 - - 0.4167 intronic PSMD14 Reference - - - - - - - - PSMD14 chr2 162279851 162279852 CT - 36/8(0.18) 271 44 het unknown deletion chr2 rs139857158 - - 0.0025 intronic TBR1 Reference - - - - - - - - TBR1 chr2 164466040 164466040 T - 0/34(1.00) 733 34 hom unknown deletion chr2 rs3833554 - - 0.2353 3-UTR FIGN Reference - - - - - - - - FIGN chr2 165987735 165987735 - AT 21/18(0.46) 976 39 het unknown insertion chr2 rs202076476 0.02 - 0.0172 intronic SCN3A Reference - - - - - - - - SCN3A chr2 166018891 166018891 - A 8/6(0.43) 88 14 het unknown insertion chr2 - - - 0.0074 intronic SCN3A Reference - - - - - - - - SCN3A chr2 167084323 167084325 ATT - 10/7(0.41) 296 17 het unknown deletion chr2 rs143250205 0.14 - 0.1814 intronic SCN9A Reference - - - - - - - - SCN9A chr2 167085142 167085143 TT - 15/10(0.40) 351 25 het unknown deletion chr2 rs58519838 0.79 - 0.3922 intronic SCN9A Reference - - - - - - - - SCN9A chr2 168096268 168096268 - T 10/4(0.29) 44 14 het unknown insertion chr2 rs77160941 - - 0.1961 intronic XIRP2 Reference - - - - - - - - XIRP2 chr2 169681278 169681278 - TTTGTTTGTTTG 0/24(1.00) 1436 24 hom unknown insertion chr2 - - - 0.2304 intronic NOSTRIN Reference - - - - - - - - NOSTRIN chr2 169707263 169707272 AATTCTCTGG - 0/35(1.00) 1873 35 hom unknown deletion chr2 rs139707092 0.29 - 0.2647 intronic NOSTRIN Reference - - - - - - - - NOSTRIN chr2 169728070 169728072 AAA - 1/32(0.97) 331 33 hom unknown deletion chr2 rs201633076 - - 0.3946 intronic SPC25 Reference - - - - - - - - SPC25 chr2 170633104 170633104 A - 0/51(1.00) 2332 51 hom unknown deletion chr2 rs11325477 0.98 - 0.4020 intergenic PHOSPHO2-KLHL23;SSB Reference - - - - - - - - SSB(dist=22218);PHOSPHO2-KLHL23(dist=24708) chr2 170678591 170678594 TAAG - 6/9(0.60) 401 15 het unknown deletion chr2 rs137986141 0.12 - 0.1544 intronic METTL5 Reference - - - - - - - - METTL5 chr2 170917985 170917985 T - 3/58(0.95) 506 61 het unknown deletion chr2 - - - - intronic UBR3 Reference - - - - - - - - UBR3 chr2 170917984 170917985 TT - 3/58(0.95) 506 61 het unknown deletion chr2 rs79097626 - - 0.0711 intronic UBR3 Reference - - - - - - - - UBR3 chr2 171264091 171264091 - GCTCTGGATATGAAAGCTCTGGATATGAAA 0/24(1.00) 1363 24 hom unknown insertion chr2 - - - 0.0882 intronic MYO3B Reference - - - - - - - - MYO3B chr2 171508491 171508491 A - 0/22(1.00) 602 22 hom unknown deletion chr2 rs10718459 - - 0.3824 intronic MYO3B Reference - - - - - - - - MYO3B chr2 171632385 171632385 - TT 0/16(1.00) 965 16 hom unknown insertion chr2 rs10626619 - - 0.3382 intergenic SP5;GAD1 Reference - - - - - - - - SP5(dist=57887);GAD1(dist=40815) chr2 171634348 171634348 A - 0/47(1.00) 2553 47 hom unknown deletion chr2 rs11334749 0.76 - 0.3848 intergenic SP5;GAD1 Reference - - - - - - - - GAD1(dist=38852);SP5(dist=59850) chr2 172582281 172582281 - TTAC 0/20(1.00) 1216 20 hom unknown insertion chr2 - - - 0.3578 intronic DYNC1I2 Reference - - - - - - - - DYNC1I2 chr2 172700749 172700749 G - 2/3(0.60) 66 5 het unknown deletion chr2 - - - - intronic SLC25A12 Reference - - - - - - - - SLC25A12 chr2 172823484 172823484 - A 3/6(0.67) 311 9 het unknown insertion chr2 rs199969806 0.03 - 0.0172 intronic HAT1 Reference - - - - - - - - HAT1 chr2 172967128 172967128 - GCT 26/18(0.41) 875 44 het nonframeshift insertion chr2 rs201510837 0.06 - 0.0490 exonic DLX2 Reference - - - - - - - - DLX2,NM_004405,exon1,c.138_139insAGC,p.L47delinsSL chr2 173428872 173428874 CTC - 0/48(1.00) 2537 48 hom unknown deletion chr2 rs80228609 0.52 - 0.3186 intronic PDK1 Reference - - - - - - - - PDK1 chr2 173600783 173600783 - G 0/13(1.00) 776 13 hom unknown insertion chr2 rs80323710 - 0.999613 0.3358 ncRNA_intronic RAPGEF4-AS1 Reference - - - - - - - - RAPGEF4-AS1 chr2 174082077 174082079 CCT - 6/4(0.40) 151 10 het unknown deletion chr2 rs141141920 0.58 - 0.3750 ncRNA_intronic MLK7-AS1 Reference - - - - - - - - MLK7-AS1 chr2 174230983 174230983 - T 0/22(1.00) 651 22 hom unknown insertion chr2 - - 0.818559 0.4289 intronic CDCA7 Reference - - - - - - - - CDCA7 chr2 175292581 175292593 TCAAATTTATCAG - 15/16(0.52) 704 31 het frameshift deletion chr2 rs145699077 0.22 0.258361 0.2083 exonic SCRN3 Reference - - - - - - - - SCRN3,NM_001193528,exon8,c.1212_1224del,p.404_408del;SCRN3,NM_024583,exon8,c.1233_1245del,p.411_415del chr2 175624108 175624108 A - 28/27(0.49) 495 55 het unknown deletion chr2 rs34695580 - 0.355135 0.1961 intronic CHRNA1 Reference - - - - - - - - CHRNA1 chr2 176988290 176988290 - GCA 1/42(0.98) 2518 43 hom nonframeshift insertion chr2 rs146821522 0.37 - 0.4534 exonic HOXD9 Reference - - - - - - - - HOXD9,NM_014213,exon1,c.794_795insGCA,p.P265delinsPQ chr2 178129391 178129393 GGC - 2/8(0.80) 351 10 het unknown deletion chr2 rs143406266 - - 0.2132 5-UTR NFE2L2 Reference - - - - - - - - NFE2L2 chr2 178494173 178494173 - GGA 0/21(1.00) 1279 21 hom nonframeshift insertion chr2 rs3830637 - 0.594554 0.5564 exonic PDE11A Reference - - - - - - - - PDE11A,NM_001077197,exon21,c.2013_2014insTCC,p.P672delinsSP;PDE11A,NM_016953,exon20,c.2763_2764insTCC,p.P922delinsSP;PDE11A,NM_001077358,exon19,c.1689_1690insTCC,p.P564delinsSP;PDE11A,NM_001077196,exon17,c.1431_1432insTCC,p.P478delinsSP chr2 179250163 179250163 - C 26/31(0.54) 1738 57 het unknown insertion chr2 rs34784245 0.23 0.088804 0.2206 ncRNA_intronic MIR548N Reference - - - - - - - - MIR548N chr2 179301056 179301057 AG - 25/17(0.40) 773 42 het unknown deletion chr2 rs138320145 0.15 0.016933 0.1618 ncRNA_intronic MIR548N Reference - - - - - - - - MIR548N chr2 179477333 179477333 T - 4/10(0.71) 118 14 het unknown deletion chr2 rs34928195 - - 0.3554 ncRNA_intronic MIR548N;TTN-AS1 Reference - - - - - - - - MIR548N;TTN-AS1 chr2 179548954 179548954 - CAA 28/24(0.46) 1268 52 het unknown insertion chr2 rs143691054 - - 0.3162 intronic TTN Reference - - - - - - - - TTN chr2 182399514 182399514 - TGAG 5/3(0.38) 119 8 het unknown insertion chr2 rs142045243 - 0.079858 0.1936 intronic ITGA4 Reference - - - - - - - - ITGA4 chr2 182403792 182403792 - T 0/100(1.00) 3070 100 hom unknown insertion chr2 rs57234957 - 0.992972 0.4485 intronic CERKL Reference - - - - - - - - CERKL chr2 182412633 182412633 - ACACACACACACAC 0/40(1.00) 2426 40 hom unknown insertion chr2 rs139036113 - - 0.3431 intronic CERKL Reference - - - - - - - - CERKL chr2 183033021 183033021 A - 13/10(0.43) 65 23 het unknown deletion chr2 rs199755981 - - 0.2402 intronic PDE1A Reference - - - - - - - - PDE1A chr2 183066377 183066377 - AA 1/17(0.94) 54 18 het unknown insertion chr2 - - - 0.1544 intronic PDE1A Reference - - - - - - - - PDE1A chr2 183066377 183066377 - AAA 1/17(0.94) 54 18 het unknown insertion chr2 - - - 0.0784 intronic PDE1A Reference - - - - - - - - PDE1A chr2 183593452 183593452 T - 5/8(0.62) 150 13 het unknown deletion chr2 rs3832045 0.39 - 0.2868 intronic DNAJC10 Reference - - - - - - - - DNAJC10 chr2 183960143 183960143 - T 20/10(0.33) 90 30 het unknown insertion chr2 - - - 0.0956 intronic DUSP19 Reference - - - - - - - - DUSP19 chr2 185802211 185802211 - ACA 0/13(1.00) 787 13 hom nonframeshift insertion chr2 rs5836928 - 0.428903 0.5000 exonic ZNF804A Reference - - - - - - - - ZNF804A,NM_194250,exon4,c.2088_2089insACA,p.N696delinsNT chr2 186603605 186603605 - G 11/16(0.59) 604 27 het frameshift insertion chr2 - 0.42 - 0.2328 exonic FSIP2 Reference - - - - - - - - FSIP2,NM_173651,exon1,c.252dupG,p.E84fs chr2 187559047 187559047 - CAA 4/127(0.97) 3070 131 hom nonframeshift insertion chr2 rs144403657 0.78 - 0.5000 exonic FAM171B Reference - - - - - - - - FAM171B,NM_177454,exon1,c.147_148insCAA,p.Q49delinsQQ chr2 189859435 189859435 T - 7/8(0.53) 54 15 het unknown deletion chr2 - - 0.223590 0.0858 intronic COL3A1 Reference - - - - - - - - COL3A1 chr2 189923631 189923631 T - 0/64(1.00) 1064 64 hom unknown deletion chr2 rs5837121 - - 0.3971 intronic COL5A2 Reference - - - - - - - - COL5A2 chr2 190319966 190319966 - A 9/6(0.40) 64 15 het unknown insertion chr2 rs113118041 0.63 - 0.3431 intronic WDR75 Reference - - - - - - - - WDR75 chr2 191354658 191354658 - CT 0/27(1.00) 1657 27 hom unknown insertion chr2 rs59123011 - - 0.3725 intronic MFSD6 Reference - - - - - - - - MFSD6 chr2 191523861 191523862 AC - 8/3(0.27) 78 11 het unknown deletion chr2 - - - - intronic NAB1 Reference - - - - - - - - NAB1 chr2 192161058 192161058 - T 0/12(1.00) 336 12 hom unknown insertion chr2 rs11397643 - - 0.3578 intronic MYO1B Reference - - - - - - - - MYO1B chr2 196602582 196602582 - AAT 5/9(0.64) 485 14 het unknown insertion chr2 rs75708451 - - 0.2647 3-UTR DNAH7 Reference - - - - - - - - DNAH7 chr2 196756536 196756536 A - 2/34(0.94) 585 36 hom unknown deletion chr2 rs11292337 - - 0.4069 intronic DNAH7 Reference - - - - - - - - DNAH7 chr2 196774959 196774980 GATTTTTTTTCCATTCACATGC - 12/18(0.60) 860 30 het unknown deletion chr2 rs147338806 - - 0.1569 intronic DNAH7 Reference - - - - - - - - DNAH7 chr2 197953373 197953377 AAGTC - 0/39(1.00) 2076 39 hom unknown deletion chr2 rs146161383 - 0.808523 0.4387 intronic ANKRD44 Reference - - - - - - - - ANKRD44 chr2 198264904 198264906 AAT - 2/68(0.97) 3070 70 hom unknown deletion chr2 rs140740106 0.24 0.158361 0.2377 intronic SF3B1 Reference - - - - - - - - SF3B1 chr2 198267770 198267770 - AA 0/13(1.00) 602 13 hom unknown insertion chr2 - 0.59 0.735783 0.3260 intronic SF3B1 Reference - - - - - - - - SF3B1 chr2 198355135 198355135 - TG 0/14(1.00) 795 14 hom unknown insertion chr2 rs148517124 - - 0.3186 intronic HSPD1 Reference - - - - - - - - HSPD1 chr2 198950968 198950968 - T 0/65(1.00) 3070 65 hom unknown insertion chr2 rs75433604 0.25 0.226561 0.2917 intronic PLCL1 Reference - - - - - - - - PLCL1 chr2 200873145 200873160 ATACAAAAAAAACTTG - 46/32(0.41) 1496 78 het unknown deletion chr2 rs113489455 0.80 - 0.3137 intergenic C2orf47;SPATS2L Reference - - - - - - - - SPATS2L(dist=297444);C2orf47(dist=44298) chr2 201440940 201440940 T - 8/9(0.53) 114 17 het unknown deletion chr2 rs66861543 - - 0.2525 intronic SGOL2 Reference - - - - - - - - SGOL2 chr2 202149417 202149418 CG - 2/9(0.82) 408 11 het unknown deletion chr2 - - - 0.0613 intronic CASP8 Reference - - - - - - - - CASP8 chr2 202592027 202592031 CAGGA - 29/29(0.50) 1387 58 het unknown deletion chr2 rs138413079 0.01 0.017498 0.0368 intronic ALS2 Reference - - - - - - - - ALS2 chr2 202698437 202698440 TTCT - 4/9(0.69) 352 13 het unknown deletion chr2 rs200809750 0.36 - - intronic CDK15 Reference - - - - - - - - CDK15 chr2 203003066 203003066 - GTGT 24/14(0.37) 684 38 het unknown insertion chr2 rs3043926 - - 0.3824 intronic LOC100652824 Reference - - - - - - - - LOC100652824 chr2 203384776 203384776 - T 6/11(0.65) 122 17 het unknown insertion chr2 rs11390605 - - 0.3603 intronic BMPR2 Reference - - - - - - - - BMPR2 chr2 203749392 203749392 - TTT 3/4(0.57) 190 7 het unknown insertion chr2 - - - 0.3211 intronic WDR12 Reference - - - - - - - - WDR12 chr2 204054883 204054898 ACACACACACACACAC - 3/6(0.67) 263 9 het unknown deletion chr2 rs72313059 - - 0.1740 intronic NBEAL1 Reference - - - - - - - - NBEAL1 chr2 204111399 204111402 TTAA - 3/5(0.62) 212 8 het unknown deletion chr2 rs141839465 0.92 - 0.3922 intronic CYP20A1 Reference - - - - - - - - CYP20A1 chr2 204629968 204629991 CTCCCAGATTTTGCTCTCCAGCTT - 0/20(1.00) 1061 20 hom unknown deletion chr2 rs144922376 - - 0.0637 intergenic CD28;CTLA4 Reference - - - - - - - - CD28(dist=26332);CTLA4(dist=102520) chr2 204824179 204824180 GT - 11/11(0.50) 501 22 het unknown deletion chr2 rs146016344 - - 0.3039 intronic ICOS Reference - - - - - - - - ICOS chr2 205978114 205978114 A - 0/11(1.00) 565 11 hom unknown deletion chr2 - - - 0.3333 intronic PARD3B Reference - - - - - - - - PARD3B chr2 205978118 205978121 GTGT GGT het unknown substitution chr2 - - - - intronic PARD3B Reference - - - - - - - - PARD3B chr2 205978119 205978121 TGT - 0/8(1.00) 92 8 het unknown deletion chr2 - - - 0.1569 intronic PARD3B Reference - - - - - - - - PARD3B chr2 205978347 205978347 - GATTTGA 1/34(0.97) 2014 35 hom unknown insertion chr2 rs5837953 0.39 0.257039 0.3039 intronic PARD3B Reference - - - - - - - - PARD3B chr2 206548280 206548287 GTGTGTGT - 1/2(0.67) 61 3 het unknown deletion chr2 rs146091617 - - 0.1520 intronic NRP2 Reference - - - - - - - - NRP2 chr2 206630073 206630073 - AC 13/18(0.58) 1000 31 het unknown insertion chr2 rs35659576 - - 0.3529 intronic NRP2 Reference - - - - - - - - NRP2 chr2 206632303 206632303 A - 24/13(0.35) 45 37 het unknown deletion chr2 - - - 0.0172 intronic NRP2 Reference - - - - - - - - NRP2 chr2 206884596 206884596 T - 13/10(0.43) 147 23 het unknown deletion chr2 rs11366043 0.12 0.285213 0.1642 intronic INO80D Reference - - - - - - - - INO80D chr2 207008675 207008675 - T 28/30(0.52) 1652 58 het unknown insertion chr2 rs35409448 0.25 - 0.2672 intronic NDUFS1 Reference - - - - - - - - NDUFS1 chr2 207027407 207027407 - T 14/12(0.46) 637 26 het unknown insertion chr2 - 0.25 0.542259 0.2770 intronic EEF1B2 Reference - - - - - - - - EEF1B2 chr2 207452152 207452152 T - 3/5(0.62) 66 8 het unknown deletion chr2 rs3832131 - 0.872456 0.3382 intronic ADAM23 Reference - - - - - - - - ADAM23 chr2 207629821 207629821 - GCAA 0/21(1.00) 1279 21 hom unknown insertion chr2 rs28365798 0.74 - 0.3480 intronic MDH1B Reference - - - - - - - - MDH1B chr2 207998878 207998878 - TTTTT 1/23(0.96) 108 24 hom unknown insertion chr2 - - - 0.0392 intronic KLF7 Reference - - - - - - - - KLF7 chr2 209101906 209101906 A - 0/39(1.00) 847 39 hom unknown deletion chr2 rs57383668 - - 0.4240 intronic IDH1 Reference - - - - - - - - IDH1 chr2 209224875 209224875 A - 0/24(1.00) 1075 24 hom unknown deletion chr2 rs11357589 0.94 - 0.4069 intergenic PIKFYVE;PTH2R Reference - - - - - - - - PTH2R(dist=46680);PIKFYVE(dist=1400) chr2 209346020 209346020 - GCAACCTC 5/5(0.50) 245 10 het unknown insertion chr2 rs61511423 - - 0.2843 intronic PTH2R Reference - - - - - - - - PTH2R chr2 209353657 209353657 T - 8/6(0.43) 55 14 het unknown deletion chr2 rs11335842 - - 0.3897 intronic PTH2R Reference - - - - - - - - PTH2R chr2 210594717 210594717 - T 0/37(1.00) 1559 37 hom unknown insertion chr2 - 0.81 - 0.3775 intronic MAP2 Reference - - - - - - - - MAP2 chr2 211163031 211163047 CACACACACACATACTA - 6/5(0.45) 189 11 het unknown deletion chr2 - - - 0.0270 intronic MYL1 Reference - - - - - - - - MYL1 chr2 211163063 211163063 - ACACACAC 10/6(0.38) 289 16 het unknown insertion chr2 - - - 0.0294 intronic MYL1 Reference - - - - - - - - MYL1 chr2 211168181 211168181 - C 2/6(0.75) 314 8 het unknown insertion chr2 rs35179660 0.46 0.385144 0.2990 intronic MYL1 Reference - - - - - - - - MYL1 chr2 211444533 211444533 - GT 16/14(0.47) 758 30 het unknown insertion chr2 - - - 0.1691 intronic CPS1 Reference - - - - - - - - CPS1 chr2 211527828 211527828 T - 3/84(0.97) 1345 87 hom unknown deletion chr2 rs5838215 - - 0.4240 intronic CPS1 Reference - - - - - - - - CPS1 chr2 212295590 212295590 - T 0/13(1.00) 692 13 hom unknown insertion chr2 rs141267844 0.24 - 0.2083 intronic ERBB4 Reference - - - - - - - - ERBB4 chr2 212488870 212488870 - C 0/22(1.00) 1342 22 hom unknown insertion chr2 rs76332141 - - 0.4191 intronic ERBB4 Reference - - - - - - - - ERBB4 chr2 213886647 213886647 - TTTTATCT 0/30(1.00) 1835 30 hom unknown insertion chr2 rs141472671 0.78 - 0.4044 intronic IKZF2 Reference - - - - - - - - IKZF2 chr2 215797528 215797531 ATTC - 0/15(1.00) 785 15 hom unknown deletion chr2 rs10532785 0.25 - 0.2328 intronic ABCA12 Reference - - - - - - - - ABCA12 chr2 216240127 216240128 AC - 20/24(0.55) 1153 44 het unknown deletion chr2 rs75204422 0.83 0.244929 0.4877 intronic FN1 Reference - - - - - - - - FN1 chr2 216248708 216248709 AA - 10/11(0.52) 368 21 het unknown deletion chr2 rs35639338 0.83 0.239978 0.4706 intronic FN1 Reference - - - - - - - - FN1 chr2 216263938 216263938 - T 21/14(0.40) 736 35 het unknown insertion chr2 rs3832178 - 0.557898 0.4559 intronic FN1 Reference - - - - - - - - FN1 chr2 216274855 216274855 - AC het unknown insertion chr2 - - - - intronic FN1 Reference - - - - - - - - FN1 chr2 216274854 216274855 AC - 2/8(0.80) 394 10 het unknown deletion chr2 rs5838511 - - 0.3971 intronic FN1 Reference - - - - - - - - FN1 chr2 216299571 216299571 - TAC 23/28(0.55) 1570 51 het unknown insertion chr2 rs10648691 0.95 0.492413 0.4828 intronic FN1 Reference - - - - - - - - FN1 chr2 217281151 217281151 C - 0/19(1.00) 515 19 hom unknown deletion chr2 rs3214962 - - 0.3627 intronic SMARCAL1 Reference - - - - - - - - SMARCAL1 chr2 217343136 217343136 - C 5/6(0.55) 286 11 het unknown insertion chr2 rs5838586 0.37 - 0.2672 intronic SMARCAL1 Reference - - - - - - - - SMARCAL1 chr2 218604303 218604303 A - 42/53(0.56) 734 95 het unknown deletion chr2 rs11336139 - - 0.2353 ncRNA_intronic DIRC3 Reference - - - - - - - - DIRC3 chr2 218694511 218694511 T - 0/46(1.00) 2012 46 hom unknown deletion chr2 rs55877504 0.74 - 0.4902 intronic TNS1 Reference - - - - - - - - TNS1 chr2 218707083 218707083 - C 0/12(1.00) 713 12 hom unknown insertion chr2 rs76504490 0.37 - 0.2402 intronic TNS1 Reference - - - - - - - - TNS1 chr2 218712886 218712886 - GCTGCT 42/37(0.47) 1995 79 het nonframeshift insertion chr2 - - - 0.0833 exonic TNS1 Reference - - - - - - - - TNS1,NM_022648,exon17,c.1978_1979insAGCAGC,p.P660delinsQQP chr2 218750453 218750453 - G 0/44(1.00) 2588 44 hom unknown insertion chr2 - - 0.528909 0.4338 intronic TNS1 Reference - - - - - - - - TNS1 chr2 218758123 218758123 - CA 4/11(0.73) 511 15 het unknown insertion chr2 - - - 0.0980 intronic TNS1 Reference - - - - - - - - TNS1 chr2 218953691 218953691 - CT 2/4(0.67) 194 6 het unknown insertion chr2 rs111889429 - - 0.0760 intronic RUFY4 Reference - - - - - - - - RUFY4 chr2 219090419 219090436 CTGGCCTTCCTTTTTTAT - 3/3(0.50) 93 6 het unknown deletion chr2 rs202199342 - - 0.0343 intronic ARPC2 Reference - - - - - - - - ARPC2 chr2 219265136 219265136 - C 0/57(1.00) 3070 57 hom unknown insertion chr2 - - - 0.3652 intronic CTDSP1 Reference - - - - - - - - CTDSP1 chr2 219321693 219321693 A - 6/6(0.50) 44 12 het unknown deletion chr2 rs5838699 - - 0.3505 intronic USP37 Reference - - - - - - - - USP37 chr2 219352921 219352921 G - 1/2(0.67) 87 3 het unknown deletion chr2 rs148350642 - - 0.0025 intronic USP37 Reference - - - - - - - - USP37 chr2 219445861 219445862 AA - 18/5(0.22) 115 23 het unknown deletion chr2 rs72415710 0.76 - 0.3529 intronic RQCD1 Reference - - - - - - - - RQCD1 chr2 219447917 219447922 TGTGTG - 3/16(0.84) 677 19 het unknown deletion chr2 - - - 0.0245 intronic RQCD1 Reference - - - - - - - - RQCD1 chr2 219692527 219692527 - C 1/37(0.97) 2017 38 hom unknown insertion chr2 rs34846588 - - 0.5098 intronic PRKAG3 Reference - - - - - - - - PRKAG3 chr2 219692790 219692790 - G 0/31(1.00) 1709 31 hom unknown insertion chr2 rs5838710 - 0.999596 0.5074 intronic PRKAG3 Reference - - - - - - - - PRKAG3 chr2 219922073 219922073 - C 7/8(0.53) 419 15 het unknown insertion chr2 rs34694069 0.30 - 0.2647 intronic IHH Reference - - - - - - - - IHH chr2 220082365 220082365 - A 17/9(0.35) 79 26 het unknown insertion chr2 - - - 0.0613 intronic ABCB6 Reference - - - - - - - - ABCB6 chr2 220103393 220103411 TGTGGTATAAGAGAAAAGA - 37/18(0.33) 783 55 het unknown deletion chr2 rs146847433 - - 0.0466 intronic GLB1L Reference - - - - - - - - GLB1L chr2 220134477 220134477 G - 0/35(1.00) 1365 35 hom unknown deletion chr2 rs5838731 0.95 - 0.5123 ncRNA_intronic TUBA4B Reference - - - - - - - - TUBA4B chr2 220146609 220146609 - G 13/7(0.35) 340 20 het unknown insertion chr2 rs11435247 0.66 0.355774 0.4657 intronic DNAJB2 Reference - - - - - - - - DNAJB2 chr2 220194247 220194247 - ATT 7/7(0.50) 359 14 het unknown insertion chr2 rs3832109 0.17 - 0.2108 intronic RESP18 Reference - - - - - - - - RESP18 chr2 220249299 220249299 - T 0/27(1.00) 811 27 hom unknown insertion chr2 - 0.92 - 0.3995 intronic DNPEP Reference - - - - - - - - DNPEP chr2 220250898 220250898 G - 0/14(1.00) 582 14 hom unknown deletion chr2 rs11352428 - - 0.5245 intronic DNPEP Reference - - - - - - - - DNPEP chr2 220252288 220252290 TCG - 0/33(1.00) 1780 33 hom unknown deletion chr2 rs138394024 - - 0.4167 intronic DNPEP Reference - - - - - - - - DNPEP chr2 220264543 220264543 - AT 0/73(1.00) 3070 73 hom unknown insertion chr2 rs58721028 - - 0.4828 intergenic DNPEP;DES Reference - - - - - - - - DES(dist=18556);DNPEP(dist=11881) chr2 220330643 220330650 GTGCGCGC - 12/12(0.50) 572 24 het unknown deletion chr2 - - - 0.1397 intronic SPEG Reference - - - - - - - - SPEG chr2 220330657 220330658 GT - 13/14(0.52) 673 27 het unknown deletion chr2 - - - 0.0196 intronic SPEG Reference - - - - - - - - SPEG chr2 220330662 220330663 CG - 11/15(0.58) 709 26 het unknown deletion chr2 - - - 0.0196 intronic SPEG Reference - - - - - - - - SPEG chr2 220400050 220400051 TG - 3/4(0.57) 161 7 het unknown deletion chr2 rs144993868 - - 0.0809 intronic ASIC4 Reference - - - - - - - - ASIC4 chr2 220409190 220409190 - T 21/19(0.47) 1015 40 het unknown insertion chr2 rs151333814 0.03 - 0.0858 intronic TMEM198 Reference - - - - - - - - TMEM198 chr2 220413659 220413659 A - 13/8(0.38) 269 21 het unknown deletion chr2 rs56198734 0.38 - 0.2525 intronic TMEM198 Reference - - - - - - - - TMEM198 chr2 220415596 220415597 GA - 14/21(0.60) 1014 35 het unknown deletion chr2 rs146790993 0.40 0.438070 0.3873 intronic OBSL1 Reference - - - - - - - - OBSL1 chr2 223066017 223066017 - C 4/15(0.79) 376 19 het unknown insertion chr2 - - 0.117812 0.3971 3-UTR PAX3 Reference - - - - - - - - PAX3 chr2 223781018 223781018 T - 0/13(1.00) 294 13 hom unknown deletion chr2 rs60362808 - - 0.3260 intronic ACSL3 Reference - - - - - - - - ACSL3 chr2 223806189 223806189 - T 6/13(0.68) 583 19 het unknown insertion chr2 - - - 0.2941 intronic ACSL3 Reference - - - - - - - - ACSL3 chr2 224629851 224629851 - T 10/5(0.33) 230 15 het unknown insertion chr2 - 0.40 - 0.3039 intronic AP1S3 Reference - - - - - - - - AP1S3 chr2 224629876 224629876 - CAT 1/13(0.93) 674 14 het unknown insertion chr2 - - - 0.1961 intronic AP1S3 Reference - - - - - - - - AP1S3 chr2 224629876 224629876 - CATCAT 1/13(0.93) 674 14 het unknown insertion chr2 - - - 0.1569 intronic AP1S3 Reference - - - - - - - - AP1S3 chr2 224760360 224760361 GA - 30/4(0.12) 80 34 het unknown deletion chr2 rs150347314 - 0.076026 0.0025 intronic WDFY1 Reference - - - - - - - - WDFY1 chr2 224777105 224777105 - TGAT 29/25(0.46) 1354 54 het unknown insertion chr2 rs113054269 0.52 0.883280 0.3652 intronic WDFY1 Reference - - - - - - - - WDFY1 chr2 225378383 225378386 TAAT - 3/5(0.62) 212 8 het unknown deletion chr2 rs3830376 0.20 0.275072 0.1814 intronic CUL3 Reference - - - - - - - - CUL3 chr2 225449894 225449899 GGCGGC - 3/2(0.40) 56 5 het unknown deletion chr2 - - - 0.0760 5-UTR CUL3 Reference - - - - - - - - CUL3 chr2 225668718 225668719 TG - 12/7(0.37) 277 19 het unknown deletion chr2 rs141021252 - - 0.1838 intronic DOCK10 Reference - - - - - - - - DOCK10 chr2 225719781 225719781 - AC 0/7(1.00) 352 7 het unknown insertion chr2 rs145044043 - - 0.0907 intronic DOCK10 Reference - - - - - - - - DOCK10 chr2 225719781 225719781 - ACACAC 0/7(1.00) 352 7 het unknown insertion chr2 - - - 0.0613 intronic DOCK10 Reference - - - - - - - - DOCK10 chr2 227954371 227954395 AATATATAAGACACAAGGCTTTATA - 1/3(0.75) 112 4 het unknown deletion chr2 - - - 0.1029 intronic COL4A4 Reference - - - - - - - - COL4A4 chr2 227966298 227966298 - A 18/13(0.42) 172 31 het unknown insertion chr2 rs112618294 - 0.616004 0.2990 intronic COL4A4 Reference - - - - - - - - COL4A4 chr2 227967602 227967624 CAATATTTCAGCAATAGGGAAAG - 1/44(0.98) 2324 45 hom unknown deletion chr2 rs11274738 0.64 0.567097 0.2328 intronic COL4A4 Reference - - - - - - - - COL4A4 chr2 227974306 227974306 - A 3/4(0.57) 191 7 het unknown insertion chr2 - 0.30 - 0.2010 intronic COL4A4 Reference - - - - - - - - COL4A4 chr2 228560801 228560801 A - 2/83(0.98) 2321 85 hom unknown deletion chr2 rs11334205 - 0.938668 0.5221 intronic SLC19A3 Reference - - - - - - - - SLC19A3 chr2 228786050 228786051 GC - 15/6(0.29) 229 21 het unknown deletion chr2 - - - - intronic DAW1 Reference - - - - - - - - DAW1 chr2 230135711 230135711 - C 0/19(1.00) 1154 19 hom unknown insertion chr2 rs74693768 - 0.999273 0.5074 intronic PID1 Reference - - - - - - - - PID1 chr2 230411519 230411522 AGAC - 0/14(1.00) 642 14 hom unknown deletion chr2 - - - 0.1936 intronic DNER Reference - - - - - - - - DNER chr2 230453214 230453214 - A 0/34(1.00) 801 34 hom unknown insertion chr2 rs77640045 - - 0.4118 intronic DNER Reference - - - - - - - - DNER chr2 231861033 231861059 CAGCAGCCTAGCCCTGAATCCACACCA - 148/136(0.48) 3070 284 het nonframeshift deletion chr2 rs72362780 - 0.467771 0.0711 exonic SPATA3 Reference - - - - - - - - SPATA3,NM_139073,exon1,c.85_111del,p.29_37del chr2 232225535 232225535 - G 0/33(1.00) 1822 33 hom unknown insertion chr2 rs35889244 - - 0.5466 exonic ARMC9 Reference - - - - - - - - ARMC9 chr2 232326874 232326875 TC - 13/15(0.54) 704 28 het unknown deletion chr2 rs147456242 0.04 - 0.0515 intronic NCL Reference - - - - - - - - NCL chr2 233271698 233271699 AC - 11/9(0.45) 397 20 het unknown deletion chr2 - - - 0.0539 intronic ALPPL2 Reference - - - - - - - - ALPPL2 chr2 233346382 233346382 C - 5/11(0.69) 354 16 het unknown deletion chr2 rs11285283 0.26 0.175000 0.2034 intronic ECEL1 Reference - - - - - - - - ECEL1 chr2 233408191 233408191 C - 29/18(0.38) 343 47 het unknown deletion chr2 rs59571689 - - 0.0662 intronic CHRNG Reference - - - - - - - - CHRNG chr2 233408221 233408221 G - 0/62(1.00) 2004 62 hom unknown deletion chr2 rs10714586 - - 0.5466 intronic CHRNG Reference - - - - - - - - CHRNG chr2 233421285 233421285 T - 68/61(0.47) 2183 129 het unknown deletion chr2 rs3830645 0.69 0.775336 0.4926 intronic EIF4E2 Reference - - - - - - - - EIF4E2 chr2 233429145 233429154 TATTTTATTT - 1/4(0.80) 165 5 het unknown deletion chr2 rs111584120 - - 0.1176 intronic EIF4E2 Reference - - - - - - - - EIF4E2 chr2 234113421 234113421 - GTATGTGT 3/3(0.50) 131 6 het unknown insertion chr2 rs70958391 - - 0.2990 intronic INPP5D Reference - - - - - - - - INPP5D chr2 234294561 234294561 - TC 1/79(0.99) 3070 80 hom unknown insertion chr2 rs201966773 0.93 - 0.4093 intronic DGKD Reference - - - - - - - - DGKD chr2 234438246 234438246 - T 0/52(1.00) 3070 52 hom unknown insertion chr2 rs78486600 0.88 - 0.3873 intronic USP40 Reference - - - - - - - - USP40 chr2 234442438 234442438 A - 0/13(1.00) 216 13 hom unknown deletion chr2 rs11332355 - - 0.3162 intronic USP40 Reference - - - - - - - - USP40 chr2 234580454 234580454 T - 3/9(0.75) 129 12 het unknown deletion chr2 rs35426722 - - 0.2917 intronic UGT1A10;UGT1A8 Reference - - - - - - - - UGT1A8;UGT1A10 chr2 234678111 234678112 GT - 46/7(0.13) 189 53 het unknown deletion chr2 rs145239529 - - 0.0025 intronic UGT1A1;UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9 Reference - - - - - - - - UGT1A5;UGT1A8;UGT1A10;UGT1A6;UGT1A7;UGT1A3;UGT1A1;UGT1A9;UGT1A4 chr2 234698912 234698913 TC - 9/7(0.44) 299 16 het unknown deletion chr2 rs5839492 0.30 - 0.2206 intergenic UGT1A10;HJURP Reference - - - - - - - - UGT1A10(dist=16961);HJURP(dist=46434) chr2 234698931 234698934 TTCC - 7/4(0.36) 148 11 het unknown deletion chr2 - - - 0.1936 intergenic UGT1A10;HJURP Reference - - - - - - - - UGT1A10(dist=16980);HJURP(dist=46413) chr2 234699094 234699094 C - 2/3(0.60) 44 5 het unknown deletion chr2 rs60683861 - - 0.1373 intergenic UGT1A10;HJURP Reference - - - - - - - - HJURP(dist=46253);UGT1A10(dist=17143) chr2 234740797 234740797 - AAAA 43/31(0.42) 1688 74 het unknown insertion chr2 rs76276350 0.46 - 0.3652 intergenic UGT1A10;HJURP Reference - - - - - - - - HJURP(dist=4550);UGT1A10(dist=58846) chr2 234741028 234741028 - G 21/17(0.45) 916 38 het unknown insertion chr2 rs5839496 0.47 - 0.3554 intergenic UGT1A10;HJURP Reference - - - - - - - - UGT1A10(dist=59077);HJURP(dist=4319) chr2 236706612 236706612 - T 51/40(0.44) 676 91 het unknown insertion chr2 rs140030205 - - 0.2966 intronic AGAP1 Reference - - - - - - - - AGAP1 chr2 236817337 236817337 T - 14/21(0.60) 115 35 het unknown deletion chr2 rs8178997 - - 0.3946 intronic AGAP1 Reference - - - - - - - - AGAP1 chr2 236923361 236923361 - T 9/8(0.47) 133 17 het unknown insertion chr2 rs35361765 - - 0.2721 intronic AGAP1 Reference - - - - - - - - AGAP1 chr2 237146644 237146646 GTG - 11/7(0.39) 293 18 het unknown deletion chr2 rs72060634 0.55 0.347816 0.3897 intronic ASB18 Reference - - - - - - - - ASB18 chr2 238419545 238419545 - GTGTGTGTGT het unknown insertion chr2 - - - - intronic MLPH Reference - - - - - - - - MLPH chr2 238419544 238419545 GT - 8/10(0.56) 112 18 het unknown deletion chr2 rs71887544 - - 0.0858 intronic MLPH Reference - - - - - - - - MLPH chr2 238499863 238499863 - AATTCTTCAGGAGACTCT 10/5(0.33) 227 15 het unknown insertion chr2 rs146534321 - - 0.2721 upstream RAB17 Reference - - - - - - - - RAB17 chr2 238500487 238500487 - A 40/31(0.44) 1698 71 het unknown insertion chr2 - 0.09 - 0.1569 upstream RAB17 Reference - - - - - - - - RAB17 chr2 238659964 238659965 AA - 17/24(0.59) 316 41 het unknown deletion chr2 rs58842941 - 0.115532 0.2059 intronic LRRFIP1 Reference - - - - - - - - LRRFIP1 chr2 238925462 238925462 C - 1/3(0.75) 88 4 het unknown deletion chr2 rs35692652 0.97 - 0.3039 ncRNA_intronic UBE2F-SCLY Reference - - - - - - - - UBE2F-SCLY chr2 239007756 239007758 ATT - 5/7(0.58) 310 12 het unknown deletion chr2 rs68159827 0.27 - 0.1642 ncRNA_exonic UBE2F-SCLY Reference - - - - - - - - UBE2F-SCLY chr2 239009111 239009113 GTT - 15/15(0.50) 698 30 het nonframeshift deletion chr2 - - - - exonic ESPNL Reference - - - - - - - - ESPNL,NM_194312,exon1,c.51_53del,p.17_18del chr2 239082166 239082166 - C 0/84(1.00) 3070 84 hom unknown insertion chr2 rs3832064 0.99 0.816802 0.5368 intronic ILKAP Reference - - - - - - - - ILKAP chr2 240098053 240098053 - CCCTCCCTCTGCCCGGCCT 0/27(1.00) 1657 27 hom unknown insertion chr2 - - - 0.0711 intronic HDAC4 Reference - - - - - - - - HDAC4 chr2 240323905 240323905 - G 0/65(1.00) 3070 65 hom unknown insertion chr2 rs3215239 0.83 - 0.5760 intergenic HDAC4;LOC150935 Reference - - - - - - - - LOC150935(dist=360649);HDAC4(dist=1262) chr2 241389885 241389888 CTCT - 28/26(0.48) 1233 54 het unknown deletion chr2 rs74597721 0.15 - 0.1152 ncRNA_exonic PP14571 Reference - - - - - - - - PP14571 chr2 241403956 241403995 TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT - 62/41(0.40) 1947 103 het unknown deletion chr2 - - - 0.0515 intronic GPC1 Reference - - - - - - - - GPC1 chr2 241405400 241405400 - GTG 10/5(0.33) 229 15 het unknown insertion chr2 rs147150824 - - 0.2206 intronic GPC1 Reference - - - - - - - - GPC1 chr2 241448660 241448660 - GATA 2/3(0.60) 134 5 het unknown insertion chr2 rs149901311 - - 0.3407 intronic ANKMY1 Reference - - - - - - - - ANKMY1 chr2 241537618 241537618 C - 0/24(1.00) 1075 24 hom unknown deletion chr2 rs58715822 0.64 - 0.4216 intronic CAPN10 Reference - - - - - - - - CAPN10 chr2 241621800 241621800 C - 1/3(0.75) 114 4 het frameshift deletion chr2 rs201917032 0.31 0.196674 0.2721 exonic AQP12B Reference - - - - - - - - AQP12B,NM_001102467,exon1,c.455delG,p.S152fs chr2 241696841 241696843 TCC - 16/15(0.48) 707 31 het nonframeshift deletion chr2 rs10594016 - - 0.3873 exonic KIF1A Reference - - - - - - - - KIF1A,NM_001244008,exon27,c.2751_2753del,p.917_918del chr2 241706167 241706170 CACA - 4/6(0.60) 261 10 het unknown deletion chr2 - - - - intronic KIF1A Reference - - - - - - - - KIF1A chr2 242004219 242004219 - G 0/64(1.00) 3070 64 hom unknown insertion chr2 rs11464431 - 0.999482 0.5221 intronic SNED1 Reference - - - - - - - - SNED1 chr2 242021000 242021000 - TCAGG 39/49(0.56) 2782 88 het unknown insertion chr2 rs140631844 0.56 - 0.3333 intronic SNED1 Reference - - - - - - - - SNED1 chr2 242079608 242079631 TGCAGTGGCGCAATCAGAGCTCAC - 3/16(0.84) 666 19 het unknown deletion chr2 rs34496696 - - 0.0049 intronic PASK Reference - - - - - - - - PASK chr2 242098043 242098043 G - 17/20(0.54) 953 37 het unknown deletion chr2 rs138341087 0.10 - 0.1029 intronic PPP1R7 Reference - - - - - - - - PPP1R7 chr2 242130984 242130985 CT - 1/3(0.75) 114 4 het unknown deletion chr2 rs144642342 0.12 - 0.0833 intronic ANO7 Reference - - - - - - - - ANO7 chr2 242140634 242140671 CAGCTTCCTCCAAACCTTCTGCACCGTTCACATGCCCA - 0/167(1.00) 3070 167 hom unknown deletion chr2 - - - 0.0196 intronic ANO7 Reference - - - - - - - - ANO7 chr2 242289663 242289663 - ATT 21/13(0.38) 676 34 het unknown insertion chr2 rs3217007 0.76 - 0.4853 intronic SEPT2 Reference - - - - - - - - SEPT2 chr2 242431162 242431164 GAG - 5/7(0.58) 310 12 het unknown deletion chr2 rs139315357 0.10 - 0.0613 intronic FARP2 Reference - - - - - - - - FARP2 chr2 242651679 242651679 C - 2/4(0.67) 163 6 het unknown deletion chr2 rs200728725 0.29 - 0.2843 intronic ING5 Reference - - - - - - - - ING5 chr2 242688442 242688442 - C 0/16(1.00) 861 16 hom unknown insertion chr2 rs35249772 0.36 - 0.2868 intronic D2HGDH Reference - - - - - - - - D2HGDH chr3 1339681 1339686 GTTTTT - 10/9(0.47) 400 19 het unknown deletion chr3 rs10558016 0.17 0.486731 0.1446 intronic CNTN6 Reference - - - - - - - - CNTN6 chr3 3118006 3118007 TG - 5/3(0.38) 102 8 het unknown deletion chr3 rs3217673 0.23 - 0.1716 intronic IL5RA Reference - - - - - - - - IL5RA chr3 3137155 3137155 - T 0/13(1.00) 280 13 hom unknown insertion chr3 rs200219781 - 0.684236 0.3725 intronic IL5RA Reference - - - - - - - - IL5RA chr3 3171713 3171713 - CCTGACT 0/17(1.00) 1028 17 hom unknown insertion chr3 rs113671187 - - 0.4216 intronic TRNT1 Reference - - - - - - - - TRNT1 chr3 3194107 3194107 - A 12/81(0.87) 1743 93 hom unknown insertion chr3 - - - 0.4167 intronic CRBN Reference - - - - - - - - CRBN chr3 4725620 4725620 A - 10/12(0.55) 453 22 het unknown deletion chr3 rs3215005 0.49 - 0.3456 intronic ITPR1 Reference - - - - - - - - ITPR1 chr3 4738999 4738999 - GTGT 3/8(0.73) 430 11 het unknown insertion chr3 - - - 0.2083 intronic ITPR1 Reference - - - - - - - - ITPR1 chr3 5025514 5025514 - GTGT 2/3(0.60) 102 5 het unknown insertion chr3 - - - 0.2598 3-UTR BHLHE40 Reference - - - - - - - - BHLHE40 chr3 8543713 8543713 - T 0/60(1.00) 3070 60 hom unknown insertion chr3 - - - 0.4510 intronic LMCD1 Reference - - - - - - - - LMCD1 chr3 8669368 8669368 G - 0/55(1.00) 2312 55 hom unknown deletion chr3 rs5846608 - 0.781584 0.5172 intronic SSUH2 Reference - - - - - - - - SSUH2 chr3 8671319 8671319 - TGACTCACCAGTGGTTCACAGA 12/15(0.56) 824 27 het unknown insertion chr3 rs142926392 - - 0.1838 intronic SSUH2 Reference - - - - - - - - SSUH2 chr3 9743399 9743402 GGAG - 0/42(1.00) 2266 42 hom unknown deletion chr3 rs144534173 0.95 - 0.4289 intronic MTMR14 Reference - - - - - - - - MTMR14 chr3 9757583 9757585 CCT - 3/5(0.62) 212 8 het unknown deletion chr3 - - - 0.0662 intronic CPNE9 Reference - - - - - - - - CPNE9 chr3 9757587 9757598 TGGGCCTCACTT - 6/5(0.45) 203 11 het unknown deletion chr3 - - - 0.0662 intronic CPNE9 Reference - - - - - - - - CPNE9 chr3 9969933 9969934 GG - 0/93(1.00) 3070 93 hom unknown deletion chr3 rs57179462 - 0.447293 0.5588 intronic IL17RC Reference - - - - - - - - IL17RC chr3 10346996 10346996 - A 9/8(0.47) 162 17 het unknown insertion chr3 - - - 0.3407 intronic SEC13 Reference - - - - - - - - SEC13 chr3 10347547 10347552 AACAGT - 5/3(0.38) 102 8 het unknown deletion chr3 rs3835090 - - 0.2696 intronic SEC13 Reference - - - - - - - - SEC13 chr3 11070543 11070543 C - 4/6(0.60) 106 10 het unknown deletion chr3 rs11290120 - 0.182639 0.2794 intronic SLC6A1 Reference - - - - - - - - SLC6A1 chr3 11848924 11848927 CACT - 15/17(0.53) 802 32 het unknown deletion chr3 rs144166965 0.51 - 0.3554 intronic TAMM41 Reference - - - - - - - - TAMM41 chr3 12229238 12229238 G - 1/7(0.88) 242 8 het unknown deletion chr3 rs35294573 - - 0.3235 intronic SYN2 Reference - - - - - - - - SYN2 chr3 13611731 13611731 - C 16/17(0.52) 733 33 het unknown insertion chr3 rs3832210 0.02 - 0.0294 intronic FBLN2 Reference - - - - - - - - FBLN2 chr3 14106280 14106285 CCCCGT - 13/4(0.24) 131 17 het unknown deletion chr3 rs72085875 - - 0.0735 ncRNA_exonic TPRXL Reference - - - - - - - - TPRXL chr3 14239518 14239518 T - 25/26(0.51) 481 51 het unknown deletion chr3 rs3214856 - - 0.2157 intronic LSM3 Reference - - - - - - - - LSM3 chr3 14538073 14538073 A - 34/26(0.43) 990 60 het unknown deletion chr3 rs11333211 0.66 0.460138 0.4387 intronic GRIP2 Reference - - - - - - - - GRIP2 chr3 14555758 14555758 - AGTT 0/32(1.00) 1972 32 hom unknown insertion chr3 rs138623401 0.81 0.507442 0.4240 intronic GRIP2 Reference - - - - - - - - GRIP2 chr3 14561627 14561627 - G 0/14(1.00) 794 14 hom unknown insertion chr3 - - 0.999838 0.5637 exonic GRIP2 Reference - - - - - - - - GRIP2 chr3 14974544 14974545 AG - 14/14(0.50) 649 28 het unknown deletion chr3 rs148755024 0.02 - 0.0098 intronic FGD5 Reference - - - - - - - - FGD5 chr3 15122220 15122220 - CAT 24/18(0.43) 967 42 het unknown insertion chr3 rs3830319 0.08 0.047437 0.1618 intronic ZFYVE20 Reference - - - - - - - - ZFYVE20 chr3 15127523 15127525 TAG - 8/14(0.64) 667 22 het unknown deletion chr3 rs72400013 0.19 - 0.2500 intronic ZFYVE20 Reference - - - - - - - - ZFYVE20 chr3 15456550 15456550 - AAAC 4/7(0.64) 368 11 het unknown insertion chr3 rs148072600 - - 0.2525 intronic METTL6 Reference - - - - - - - - METTL6 chr3 15471529 15471529 T - 13/18(0.58) 227 31 het unknown deletion chr3 rs11322247 - 0.265054 0.2794 intronic EAF1 Reference - - - - - - - - EAF1 chr3 15539976 15539976 - CACACA 13/9(0.41) 454 22 het unknown insertion chr3 - - 0.176566 0.1275 intronic COLQ Reference - - - - - - - - COLQ chr3 15563252 15563253 GC - 6/5(0.45) 187 11 het unknown deletion chr3 - - - 0.1225 5-UTR COLQ Reference - - - - - - - - COLQ chr3 15613279 15613279 - A 34/16(0.32) 85 50 het unknown insertion chr3 - - - 0.1667 intronic HACL1 Reference - - - - - - - - HACL1 chr3 15901054 15901054 T - 0/18(1.00) 951 18 hom unknown deletion chr3 rs71064238 0.95 - 0.2941 upstream ANKRD28 Reference - - - - - - - - ANKRD28 chr3 15901087 15901087 - CCG 4/4(0.50) 182 8 het unknown insertion chr3 - - - 0.0221 upstream ANKRD28 Reference - - - - - - - - ANKRD28 chr3 17279571 17279572 GA - 6/2(0.25) 47 8 het unknown deletion chr3 rs3839093 0.16 - 0.1446 intronic TBC1D5 Reference - - - - - - - - TBC1D5 chr3 20179033 20179033 - T 39/45(0.54) 579 84 het unknown insertion chr3 - - - 0.3627 intronic KAT2B Reference - - - - - - - - KAT2B chr3 24270500 24270500 - A 5/12(0.71) 392 17 het unknown insertion chr3 rs35719101 - - 0.3284 intronic THRB Reference - - - - - - - - THRB chr3 25639973 25639973 - T 15/12(0.44) 258 27 het unknown insertion chr3 rs11372851 - 0.414513 0.2426 intronic TOP2B Reference - - - - - - - - TOP2B chr3 25660094 25660094 - T 5/8(0.62) 174 13 het unknown insertion chr3 rs76459841 - 0.310265 0.1936 intronic TOP2B Reference - - - - - - - - TOP2B chr3 29922513 29922513 C - 2/4(0.67) 103 6 het unknown deletion chr3 rs34422454 0.07 - 0.0809 intronic RBMS3 Reference - - - - - - - - RBMS3 chr3 30842347 30842350 AGAG - 3/2(0.40) 52 5 het unknown deletion chr3 rs10553550 - - 0.2083 intronic GADL1 Reference - - - - - - - - GADL1 chr3 30903428 30903428 - AG 1/3(0.75) 137 4 het unknown insertion chr3 rs5847669 0.47 - 0.2819 intronic GADL1 Reference - - - - - - - - GADL1 chr3 31621228 31621228 - AAA 2/3(0.60) 134 5 het unknown insertion chr3 - - - 0.3260 intronic STT3B Reference - - - - - - - - STT3B chr3 32022334 32022337 CACA - 1/3(0.75) 140 4 het unknown deletion chr3 rs72290087 - - 0.2598 intronic OSBPL10 Reference - - - - - - - - OSBPL10 chr3 32030580 32030580 T - 11/15(0.58) 710 26 het frameshift deletion chr3 - - - 0.0172 exonic ZNF860 Reference - - - - - - - - ZNF860,NM_001137674,exon2,c.9delT,p.R3fs chr3 32568146 32568147 CA - 12/6(0.33) 237 18 het unknown deletion chr3 - - - 0.0270 3-UTR DYNC1LI1 Reference - - - - - - - - DYNC1LI1 chr3 33093157 33093157 G - 6/8(0.57) 290 14 het unknown deletion chr3 rs143982364 0.47 - 0.2770 intronic GLB1 Reference - - - - - - - - GLB1 chr3 33095157 33095157 T - 8/4(0.33) 145 12 het unknown deletion chr3 rs151205825 0.40 - 0.2745 intronic GLB1 Reference - - - - - - - - GLB1 chr3 33406292 33406294 TCT - 22/22(0.50) 1043 44 het unknown deletion chr3 - - - 0.0025 intronic FBXL2 Reference - - - - - - - - FBXL2 chr3 33668663 33668668 TTAAGT - 23/15(0.39) 675 38 het unknown deletion chr3 rs141974930 0.29 - 0.2402 intronic CLASP2 Reference - - - - - - - - CLASP2 chr3 33853765 33853768 AAGA - 8/3(0.27) 93 11 het unknown deletion chr3 rs150795546 0.37 - 0.2770 intronic PDCD6IP Reference - - - - - - - - PDCD6IP chr3 33907835 33907835 - CTCC 8/5(0.38) 235 13 het unknown insertion chr3 rs5847794 - 0.261460 0.3407 intronic PDCD6IP Reference - - - - - - - - PDCD6IP chr3 36534623 36534626 TCTT - 45/47(0.51) 2278 92 het unknown deletion chr3 rs3217654 0.34 0.096310 0.2475 intronic STAC Reference - - - - - - - - STAC chr3 38105487 38105487 C - 16/6(0.27) 219 22 het unknown deletion chr3 rs147035682 - - 0.0098 intronic DLEC1 Reference - - - - - - - - DLEC1 chr3 38355176 38355176 - GCGCGC 0/3(1.00) 154 3 het unknown insertion chr3 - - - - intronic SLC22A14 Reference - - - - - - - - SLC22A14 chr3 38355176 38355176 - GTGTGTGTGTGCGCGCGCGC 0/3(1.00) 154 3 het unknown insertion chr3 - - - 0.0294 intronic SLC22A14 Reference - - - - - - - - SLC22A14 chr3 38411731 38411731 - CACACACACA 1/4(0.80) 198 5 het unknown insertion chr3 - - - 0.0515 intronic XYLB Reference - - - - - - - - XYLB chr3 38627658 38627658 - CC 2/3(0.60) 55 5 het unknown insertion chr3 - - - 0.1667 intronic SCN5A Reference - - - - - - - - SCN5A chr3 39308293 39308293 A - 3/3(0.50) 67 6 het unknown deletion chr3 - - - 0.0270 intronic CX3CR1 Reference - - - - - - - - CX3CR1 chr3 40442575 40442581 GAGGTCC - 0/11(1.00) 565 11 hom unknown deletion chr3 rs112091498 - - 0.4118 ncRNA_intronic ENTPD3-AS1 Reference - - - - - - - - ENTPD3-AS1 chr3 40503520 40503520 - CTGCTG 0/46(1.00) 2843 46 hom nonframeshift insertion chr3 - - 0.077296 0.1667 exonic RPL14 Reference - - - - - - - - RPL14,NM_003973,exon6,c.445_446insCTGCTG,p.T149delinsTAA;RPL14,NM_001034996,exon6,c.445_446insCTGCTG,p.T149delinsTAA chr3 40557306 40557306 T - 12/5(0.29) 185 17 het unknown deletion chr3 - - - 0.0025 intronic ZNF620 Reference - - - - - - - - ZNF620 chr3 40557308 40557308 T - 2/5(0.71) 189 7 het unknown deletion chr3 - - 0.012298 0.1127 intronic ZNF620 Reference - - - - - - - - ZNF620 chr3 40557308 40557312 TGTGA - 2/5(0.71) 189 7 het unknown deletion chr3 - - - 0.0025 intronic ZNF620 Reference - - - - - - - - ZNF620 chr3 40557310 40557310 T - 2/4(0.67) 100 6 het unknown deletion chr3 - - - 0.0539 intronic ZNF620 Reference - - - - - - - - ZNF620 chr3 40557310 40557312 TGA - 2/4(0.67) 100 6 het unknown deletion chr3 - - 0.100623 0.0907 intronic ZNF620 Reference - - - - - - - - ZNF620 chr3 40557312 40557312 A - 2/4(0.67) 132 6 het unknown deletion chr3 rs56754874 - - 0.0662 intronic ZNF620 Reference - - - - - - - - ZNF620 chr3 40571112 40571115 TTTG - 7/5(0.42) 199 12 het unknown deletion chr3 rs146039408 0.21 - 0.1985 intronic ZNF621 Reference - - - - - - - - ZNF621 chr3 41977489 41977490 CT - 0/67(1.00) 3070 67 hom unknown deletion chr3 rs141971314 0.84 - 0.4632 intronic ULK4 Reference - - - - - - - - ULK4 chr3 42251577 42251577 - GGAGGA 2/9(0.82) 500 11 het nonframeshift insertion chr3 - - - 0.0515 exonic TRAK1 Reference - - - - - - - - TRAK1,NM_001265608,exon14,c.2063_2064insGGAGGA,p.T688delinsTEE;TRAK1,NM_001265609,exon13,c.1841_1842insGGAGGA,p.T614delinsTEE;TRAK1,NM_014965,exon13,c.1889_1890insGGAGGA,p.T630delinsTEE chr3 42251869 42251869 T - 0/18(1.00) 761 18 hom unknown deletion chr3 rs3836496 0.49 - 0.3554 3-UTR TRAK1 Reference - - - - - - - - TRAK1 chr3 42599049 42599049 - A 13/23(0.64) 205 36 het unknown insertion chr3 - - - 0.0221 intronic SEC22C Reference - - - - - - - - SEC22C chr3 42740026 42740026 A - 5/9(0.64) 415 14 het unknown deletion chr3 rs34722222 0.30 - 0.2157 intronic HHATL Reference - - - - - - - - HHATL chr3 43021326 43021326 T - 13/17(0.57) 629 30 het unknown deletion chr3 - - - - intronic FAM198A Reference - - - - - - - - FAM198A chr3 43073701 43073701 T - 16/14(0.47) 643 30 het unknown deletion chr3 rs5848642 0.15 - 0.1765 intronic FAM198A Reference - - - - - - - - FAM198A chr3 43607224 43607224 - AAAA 2/2(0.50) 60 4 hom unknown insertion chr3 - - - - intronic ANO10 Reference - - - - - - - - ANO10 chr3 43756577 43756577 - TG 25/10(0.29) 479 35 het unknown insertion chr3 - - - 0.1936 intronic ABHD5 Reference - - - - - - - - ABHD5 chr3 44329395 44329395 G - 0/24(1.00) 749 24 hom unknown deletion chr3 rs11294162 - - 0.3578 intronic TOPAZ1 Reference - - - - - - - - TOPAZ1 chr3 44540792 44540793 TC - 0/91(1.00) 3070 91 hom unknown deletion chr3 rs201582604 - - 0.6471 intergenic ZNF445;ZKSCAN7 Reference - - - - - - - - ZNF445(dist=21630);ZKSCAN7(dist=55920) chr3 44621467 44621467 - G 1/24(0.96) 606 25 hom unknown insertion chr3 rs148839493 - - 0.5147 intronic ZKSCAN7 Reference - - - - - - - - ZKSCAN7 chr3 44635479 44635480 AT - 26/25(0.49) 1187 51 het unknown deletion chr3 rs143136124 - - 0.0196 intronic ZNF660 Reference - - - - - - - - ZNF660 chr3 44803109 44803115 AAGACAG - 0/115(1.00) 3070 115 hom unknown deletion chr3 rs56236286 0.90 0.547874 0.4559 5-UTR KIAA1143 Reference - - - - - - - - KIAA1143 chr3 44840612 44840612 - T 0/15(1.00) 902 15 hom unknown insertion chr3 rs5848711 0.90 - 0.3750 intronic KIF15 Reference - - - - - - - - KIF15 chr3 45677635 45677635 - T 0/79(1.00) 3070 79 hom unknown insertion chr3 rs5848761 - - 0.2770 intronic LIMD1 Reference - - - - - - - - LIMD1 chr3 45677639 45677639 A - 0/79(1.00) 3070 79 hom unknown deletion chr3 rs5848762 - - 0.2843 intronic LIMD1 Reference - - - - - - - - LIMD1 chr3 46026210 46026210 A - 0/25(1.00) 1121 25 hom unknown deletion chr3 rs11338292 - - 0.3971 intronic FYCO1 Reference - - - - - - - - FYCO1 chr3 46487788 46487804 TTGCACCCTTAAAATTA - 10/15(0.60) 696 25 het unknown deletion chr3 rs201856214 - - 0.1814 intronic LTF Reference - - - - - - - - LTF chr3 46501284 46501284 - CTT 0/22(1.00) 1342 22 hom nonframeshift insertion chr3 rs10662431 - 0.979556 0.6569 exonic LTF Reference - - - - - - - - LTF,NM_002343,exon2,c.68_69insAAG,p.R23delinsRR chr3 46751074 46751076 AAG - 1/53(0.98) 2772 54 hom nonframeshift deletion chr3 rs10578999 - - 0.5172 exonic TMIE Reference - - - - - - - - TMIE,NM_147196,exon4,c.367_369del,p.123_123del chr3 46783664 46783664 - CCAAGG 4/3(0.43) 128 7 het unknown insertion chr3 rs112576071 0.11 - 0.0858 3-UTR PRSS45 Reference - - - - - - - - PRSS45 chr3 47038135 47038135 - A 0/44(1.00) 2728 44 hom unknown insertion chr3 rs11396344 - - 0.4951 intronic NBEAL2 Reference - - - - - - - - NBEAL2 chr3 47046220 47046240 GTTCCCTGCCAACCCCCAGAG - 1/7(0.88) 320 8 het unknown deletion chr3 rs11283920 - - 0.1887 intronic NBEAL2 Reference - - - - - - - - NBEAL2 chr3 47047176 47047176 - G 33/40(0.55) 1560 73 het unknown insertion chr3 rs34119582 0.53 - 0.4706 intronic NBEAL2 Reference - - - - - - - - NBEAL2 chr3 47050909 47050909 G - 24/16(0.40) 426 40 het unknown deletion chr3 rs3214838 0.53 - 0.3113 3-UTR NBEAL2 Reference - - - - - - - - NBEAL2 chr3 47103862 47103863 TT - 9/16(0.64) 88 25 het unknown deletion chr3 rs10589946 - - 0.3995 intronic SETD2 Reference - - - - - - - - SETD2 chr3 47142908 47142909 CC - 10/10(0.50) 328 20 het unknown deletion chr3 rs60548476 0.53 0.606612 0.3407 intronic SETD2 Reference - - - - - - - - SETD2 chr3 47287603 47287603 - T 0/31(1.00) 1909 31 hom unknown insertion chr3 rs35871850 - - 0.4657 intronic KIF9 Reference - - - - - - - - KIF9 chr3 47305929 47305933 TTTTA - 15/18(0.55) 854 33 het unknown deletion chr3 rs140345125 0.32 - 0.2574 intronic KIF9 Reference - - - - - - - - KIF9 chr3 47484797 47484797 - CT 1/2(0.67) 77 3 het unknown insertion chr3 rs202217126 0.69 - 0.1103 intronic SCAP Reference - - - - - - - - SCAP chr3 47889248 47889248 - T 11/10(0.48) 527 21 het unknown insertion chr3 rs78902211 0.27 - 0.2328 intronic DHX30 Reference - - - - - - - - DHX30 chr3 48219321 48219322 AC - 0/83(1.00) 3070 83 hom unknown deletion chr3 rs3731514 - - 0.4828 intronic CDC25A Reference - - - - - - - - CDC25A chr3 48450707 48450707 C - 0/13(1.00) 386 13 hom unknown deletion chr3 rs3217706 0.33 0.422696 0.3431 intronic PLXNB1 Reference - - - - - - - - PLXNB1 chr3 48602523 48602523 - GGC 0/28(1.00) 1720 28 hom unknown insertion chr3 rs138595277 - - 0.4412 intronic COL7A1 Reference - - - - - - - - COL7A1 chr3 48603222 48603222 - ACAG 7/9(0.56) 479 16 het unknown insertion chr3 rs3832252 0.13 - 0.1127 intronic COL7A1 Reference - - - - - - - - COL7A1 chr3 48605076 48605076 A - 71/53(0.43) 1334 124 het unknown deletion chr3 rs66737445 - 0.045839 0.1422 intronic COL7A1 Reference - - - - - - - - COL7A1 chr3 48672694 48672726 CGAGGCGTCGCAAGCGGAGAATGCCTGCTCCAG - 6/3(0.33) 100 9 het unknown deletion chr3 - - - - intronic SLC26A6 Reference - - - - - - - - SLC26A6 chr3 48681766 48681767 AG - 16/5(0.24) 173 21 het unknown deletion chr3 rs147930066 - - 0.1250 intronic CELSR3 Reference - - - - - - - - CELSR3 chr3 50129374 50129374 - A 0/14(1.00) 839 14 hom unknown insertion chr3 - 0.98 - 0.4167 intronic RBM5 Reference - - - - - - - - RBM5 chr3 50251833 50251833 - G 0/73(1.00) 3070 73 hom splicing insertion chr3 rs139650676 - 0.999832 0.5221 splicing SLC38A3 Reference - - - - - - - - SLC38A3(NM_006841,exon3,c.102-1->G) chr3 50284377 50284377 - A 0/42(1.00) 2590 42 hom unknown insertion chr3 rs34181412 0.59 - 0.3971 5-UTR GNAI2 Reference - - - - - - - - GNAI2 chr3 50306752 50306752 - C 0/31(1.00) 1361 31 hom unknown insertion chr3 rs112058630 - 0.993184 0.4951 exonic SEMA3B Reference - - - - - - - - SEMA3B chr3 50384978 50384978 C - 0/31(1.00) 1669 31 hom unknown deletion chr3 rs34963734 0.59 0.043683 0.4632 3-UTR NPRL2 Reference - - - - - - - - NPRL2 chr3 50597306 50597306 G - 1/4(0.80) 166 5 het unknown deletion chr3 rs60245666 0.32 - 0.2206 intronic C3orf18 Reference - - - - - - - - C3orf18 chr3 51393706 51393706 - AG 0/48(1.00) 2980 48 hom unknown insertion chr3 rs35251332 - 0.978923 0.5221 intronic DOCK3 Reference - - - - - - - - DOCK3 chr3 51399934 51399936 CTG - 93/99(0.52) 3070 192 het unknown deletion chr3 rs3830230 0.33 0.040589 0.3603 intronic DOCK3 Reference - - - - - - - - DOCK3 chr3 51422742 51422744 GGA - 1/8(0.89) 371 9 het unknown deletion chr3 rs61570769 - - 0.0098 5-UTR MANF Reference - - - - - - - - MANF chr3 51505078 51505080 ACT - 35/34(0.49) 1615 69 het unknown deletion chr3 rs77859974 0.33 0.040406 0.2721 intronic VPRBP Reference - - - - - - - - VPRBP chr3 51517626 51517627 TG - 1/3(0.75) 138 4 het unknown deletion chr3 rs72112939 - - 0.1667 intronic VPRBP Reference - - - - - - - - VPRBP chr3 51929361 51929361 A - 0/19(1.00) 584 19 hom unknown deletion chr3 rs34574240 0.98 0.996568 0.4877 intronic IQCF1 Reference - - - - - - - - IQCF1 chr3 51930728 51930729 CG - 6/7(0.54) 307 13 het unknown deletion chr3 rs150817790 - - 0.0735 intronic IQCF1 Reference - - - - - - - - IQCF1 chr3 51994924 51994925 GT - 47/38(0.45) 1803 85 het unknown deletion chr3 rs34463277 0.08 0.122265 0.1201 intronic PCBP4 Reference - - - - - - - - PCBP4 chr3 52232979 52232979 - TTTAC 45/43(0.49) 2402 88 het unknown insertion chr3 rs3216487 - - 0.3113 intronic ALAS1 Reference - - - - - - - - ALAS1 chr3 52505758 52505758 - AT 0/39(1.00) 2413 39 hom unknown insertion chr3 rs3065763 0.99 - 0.4461 intronic NISCH Reference - - - - - - - - NISCH chr3 52553626 52553629 GTAA - 29/24(0.45) 1126 53 het unknown deletion chr3 rs112646045 0.52 0.466272 0.3799 intronic STAB1 Reference - - - - - - - - STAB1 chr3 52584431 52584431 - CTC 8/16(0.67) 896 24 het unknown insertion chr3 rs34372721 - 0.521961 0.4020 intronic PBRM1 Reference - - - - - - - - PBRM1 chr3 52722267 52722267 T - 11/15(0.58) 224 26 het unknown deletion chr3 rs3836492 - 0.538019 0.3039 intronic GNL3 Reference - - - - - - - - GNL3 chr3 52820856 52820859 GAAT - 4/7(0.64) 313 11 het unknown deletion chr3 rs36051478 - - 0.2549 intronic ITIH1 Reference - - - - - - - - ITIH1 chr3 52821993 52821993 T - 78/63(0.45) 3015 141 het unknown deletion chr3 rs68094128 0.42 - 0.3235 intronic ITIH1 Reference - - - - - - - - ITIH1 chr3 52868668 52868668 - CA 5/10(0.67) 442 15 het unknown insertion chr3 - - - 0.0907 intronic MUSTN1;TMEM110-MUSTN1 Reference - - - - - - - - TMEM110-MUSTN1;MUSTN1 chr3 52868668 52868668 - CACACA 5/10(0.67) 442 15 het unknown insertion chr3 rs142854055 - - 0.1936 intronic MUSTN1;TMEM110-MUSTN1 Reference - - - - - - - - TMEM110-MUSTN1;MUSTN1 chr3 52868717 52868717 C - 30/19(0.39) 371 49 het unknown deletion chr3 rs77032405 - - 0.3652 intronic MUSTN1;TMEM110-MUSTN1 Reference - - - - - - - - TMEM110-MUSTN1;MUSTN1 chr3 52877647 52877647 - A 0/53(1.00) 3070 53 hom unknown insertion chr3 - - - 0.4853 intronic TMEM110;TMEM110-MUSTN1 Reference - - - - - - - - TMEM110-MUSTN1;TMEM110 chr3 52878746 52878746 - AG 0/14(1.00) 839 14 hom unknown insertion chr3 rs145574594 - - 0.4265 intronic TMEM110;TMEM110-MUSTN1 Reference - - - - - - - - TMEM110-MUSTN1;TMEM110 chr3 52883655 52883655 T - 0/14(1.00) 730 14 hom unknown deletion chr3 rs3216716 0.98 - 0.4265 intronic TMEM110;TMEM110-MUSTN1 Reference - - - - - - - - TMEM110-MUSTN1;TMEM110 chr3 52954679 52954682 AAAC - 9/12(0.57) 559 21 het unknown deletion chr3 rs143128850 - - - intronic SFMBT1 Reference - - - - - - - - SFMBT1 chr3 52960014 52960014 C - 0/35(1.00) 1587 35 hom unknown deletion chr3 rs11360013 0.99 0.967897 0.5123 intronic SFMBT1 Reference - - - - - - - - SFMBT1 chr3 52960257 52960257 G - 18/9(0.33) 264 27 het unknown deletion chr3 rs34584015 0.55 - 0.3309 intronic SFMBT1 Reference - - - - - - - - SFMBT1 chr3 53126673 53126687 TGCCCTGGACAAGGC - 18/11(0.38) 482 29 het unknown deletion chr3 rs141077598 0.15 0.268671 0.1618 intronic RFT1 Reference - - - - - - - - RFT1 chr3 53220479 53220479 - G 12/11(0.48) 583 23 het unknown insertion chr3 rs201112426 0.72 - 0.4191 intronic PRKCD Reference - - - - - - - - PRKCD chr3 53220764 53220771 CTCAGAGC - 41/39(0.49) 1873 80 het unknown deletion chr3 rs3830265 0.21 0.341809 0.2525 intronic PRKCD Reference - - - - - - - - PRKCD chr3 53223287 53223291 CTGGT - 10/22(0.69) 1032 32 het unknown deletion chr3 rs67531107 - - 0.2010 intronic PRKCD Reference - - - - - - - - PRKCD chr3 53324820 53324825 TGGCAC - 0/39(1.00) 2111 39 hom splicing deletion chr3 rs66506434 - 0.994848 0.4118 splicing DCP1A Reference - - - - - - - - DCP1A chr3 53764671 53764671 C - 12/7(0.37) 290 19 het unknown deletion chr3 rs200545333 0.07 - 0.0809 intronic CACNA1D Reference - - - - - - - - CACNA1D chr3 53882673 53882673 - T 0/116(1.00) 3070 116 hom unknown insertion chr3 rs11411532 0.93 - 0.5049 intronic IL17RB Reference - - - - - - - - IL17RB chr3 53910117 53910117 - A 15/32(0.68) 1398 47 het unknown insertion chr3 - 0.28 - 0.1127 intronic ACTR8 Reference - - - - - - - - ACTR8 chr3 53910122 53910122 G - 27/18(0.40) 787 45 het unknown deletion chr3 - 0.93 - 0.4657 intronic ACTR8 Reference - - - - - - - - ACTR8 chr3 54676442 54676442 A - 4/3(0.43) 49 7 het unknown deletion chr3 rs3832224 0.57 - 0.2966 intronic CACNA2D3 Reference - - - - - - - - CACNA2D3 chr3 54786862 54786862 - T 5/3(0.38) 125 8 het unknown insertion chr3 - - - - intronic CACNA2D3 Reference - - - - - - - - CACNA2D3 chr3 55018619 55018619 - G 20/18(0.47) 979 38 het unknown insertion chr3 rs56055307 0.30 0.151188 0.2377 intronic CACNA2D3 Reference - - - - - - - - CACNA2D3 chr3 55989279 55989290 TGTGTGTGTGTG - 3/24(0.89) 58 27 het unknown deletion chr3 - - - 0.0025 intronic ERC2 Reference - - - - - - - - ERC2 chr3 55989277 55989290 TGTGTGTGTGTGTG - 3/24(0.89) 58 27 het unknown deletion chr3 - - - - intronic ERC2 Reference - - - - - - - - ERC2 chr3 56591278 56591278 - GGGGTAAGCA 28/32(0.53) 1633 60 het stopgain SNV chr3 rs150150392 0.52 0.736718 0.3725 exonic CCDC66 Reference - - - - - - - - CCDC66,NM_001141947,exon1,c.8_9insGGGGTAAGCA,p.L3_G4delinsLGX chr3 56591289 56591298 GGGGTAAGCT - 45/33(0.42) 1449 78 het unknown deletion chr3 - - - 0.0025 intronic CCDC66 Reference - - - - - - - - CCDC66 chr3 56650051 56650051 - CTT 11/8(0.42) 228 19 het nonframeshift insertion chr3 rs77152637 0.92 0.590291 0.4289 exonic CCDC66 Reference - - - - - - - - CCDC66,NM_001012506,exon13,c.1711_1712insCTT,p.T571delinsTS;CCDC66,NM_001141947,exon13,c.1813_1814insCTT,p.T605delinsTS chr3 56650054 56650054 - CTC 9/11(0.55) 358 20 het nonframeshift insertion chr3 - - - 0.3333 exonic CCDC66 Reference - - - - - - - - CCDC66,NM_001012506,exon13,c.1714_1715insCTC,p.S572delinsSP;CCDC66,NM_001141947,exon13,c.1816_1817insCTC,p.S606delinsSP chr3 56653610 56653611 GT - 0/69(1.00) 3070 69 hom unknown deletion chr3 rs10534869 0.94 - 0.4191 intronic CCDC66 Reference - - - - - - - - CCDC66 chr3 56654003 56654007 TTTGT - 28/37(0.57) 1807 65 het unknown deletion chr3 rs145212077 - - 0.3701 intronic CCDC66 Reference - - - - - - - - CCDC66 chr3 56661910 56661912 AAT - 5/4(0.44) 141 9 het unknown deletion chr3 rs143894847 0.46 - 0.2868 intronic FAM208A Reference - - - - - - - - FAM208A chr3 56675209 56675215 TTGTAAC - 13/10(0.43) 443 23 het unknown deletion chr3 rs3215018 0.36 - 0.2647 intronic FAM208A Reference - - - - - - - - FAM208A chr3 57276259 57276259 A - 0/17(1.00) 453 17 hom unknown deletion chr3 rs11346575 - - 0.3407 intronic APPL1 Reference - - - - - - - - APPL1 chr3 57335708 57335717 ACACACACAC - 0/6(1.00) 148 6 het unknown deletion chr3 - - - - intronic DNAH12 Reference - - - - - - - - DNAH12 chr3 57335706 57335717 ACACACACACAC - 0/6(1.00) 148 6 het unknown deletion chr3 rs71919228 - - 0.0319 intronic DNAH12 Reference - - - - - - - - DNAH12 chr3 57563121 57563121 A - 0/23(1.00) 882 23 hom unknown deletion chr3 rs80155592 - 0.146189 0.3333 intronic ARF4 Reference - - - - - - - - ARF4 chr3 57613815 57613816 TG - 0/32(1.00) 1724 32 hom unknown deletion chr3 rs201240627 0.50 - 0.3873 3-UTR DENND6A Reference - - - - - - - - DENND6A chr3 57846577 57846577 C - 2/3(0.60) 96 5 het unknown deletion chr3 rs113521063 - 0.160322 - intronic SLMAP Reference - - - - - - - - SLMAP chr3 57908595 57908595 T - 1/47(0.98) 1145 48 hom unknown deletion chr3 rs3832206 0.43 - 0.3725 intronic SLMAP Reference - - - - - - - - SLMAP chr3 58089595 58089595 T - 10/13(0.57) 496 23 het unknown deletion chr3 rs3215311 0.08 - 0.0882 intronic FLNB Reference - - - - - - - - FLNB chr3 58296210 58296210 T - 14/13(0.48) 104 27 het unknown deletion chr3 rs59232688 - - 0.3750 intronic RPP14 Reference - - - - - - - - RPP14 chr3 58395490 58395490 - T 21/17(0.45) 452 38 het unknown insertion chr3 rs140856155 - - 0.3333 intronic PXK Reference - - - - - - - - PXK chr3 58395501 58395501 - A 12/12(0.50) 224 24 het unknown insertion chr3 rs75633010 - - 0.2917 intronic PXK Reference - - - - - - - - PXK chr3 62355666 62355666 - T 8/5(0.38) 61 13 het unknown insertion chr3 rs79839325 0.35 - 0.2868 3-UTR FEZF2 Reference - - - - - - - - FEZF2 chr3 62477212 62477213 AC - 1/5(0.83) 193 6 het unknown deletion chr3 - - - 0.1348 intronic CADPS Reference - - - - - - - - CADPS chr3 63640535 63640535 A - 1/105(0.99) 2648 106 hom unknown deletion chr3 rs5849568 0.12 0.184744 0.1275 intronic SNTN Reference - - - - - - - - SNTN chr3 64004409 64004409 - A 18/21(0.54) 506 39 het unknown insertion chr3 - 0.34 - 0.2574 intronic PSMD6 Reference - - - - - - - - PSMD6 chr3 64009433 64009433 T - 12/16(0.57) 464 28 het unknown deletion chr3 rs3836531 0.15 - 0.1397 intronic PSMD6 Reference - - - - - - - - PSMD6 chr3 64526652 64526658 CAATGTG - 13/8(0.38) 339 21 het unknown deletion chr3 rs3841969 0.40 - 0.3088 intronic ADAMTS9 Reference - - - - - - - - ADAMTS9 chr3 64640207 64640207 A - 0/70(1.00) 2954 70 hom unknown deletion chr3 rs11326156 0.99 0.933557 0.4657 intronic ADAMTS9 Reference - - - - - - - - ADAMTS9 chr3 65425560 65425560 - CTG 21/20(0.49) 1096 41 het nonframeshift insertion chr3 - - - 0.4559 exonic MAGI1 Reference - - - - - - - - MAGI1,NM_004742,exon9,c.1263_1264insCAG,p.T422delinsQT;MAGI1,NM_015520,exon9,c.1263_1264insCAG,p.T422delinsQT;MAGI1,NM_001033057,exon9,c.1263_1264insCAG,p.T422delinsQT chr3 66396898 66396898 - AAGAGTAGA 4/3(0.43) 128 7 het unknown insertion chr3 rs71616220 - 0.194450 0.2868 intronic SLC25A26 Reference - - - - - - - - SLC25A26 chr3 66434372 66434372 - CACA 9/2(0.18) 33 11 het unknown insertion chr3 - - - 0.0074 intronic LRIG1 Reference - - - - - - - - LRIG1 chr3 66434372 66434372 - CACACA 9/2(0.18) 33 11 het unknown insertion chr3 - - - 0.3309 intronic LRIG1 Reference - - - - - - - - LRIG1 chr3 67660150 67660150 A - 7/11(0.61) 157 18 het unknown deletion chr3 rs11286754 - - 0.2672 intronic SUCLG2 Reference - - - - - - - - SUCLG2 chr3 69054266 69054266 - T 0/45(1.00) 2791 45 hom unknown insertion chr3 rs11417320 0.49 0.302684 0.3652 intronic EOGT Reference - - - - - - - - EOGT chr3 69242771 69242771 A - 1/59(0.98) 1116 60 hom unknown deletion chr3 rs11310698 - - 0.4461 intronic FRMD4B Reference - - - - - - - - FRMD4B chr3 69265304 69265304 - A 0/30(1.00) 905 30 hom unknown insertion chr3 rs77475566 0.98 - 0.3873 intronic FRMD4B Reference - - - - - - - - FRMD4B chr3 72957734 72957734 - AGTGTTTA 39/43(0.52) 2342 82 het unknown insertion chr3 rs113101074 0.01 0.188257 0.0172 intronic GXYLT2 Reference - - - - - - - - GXYLT2 chr3 73651622 73651622 A - 2/29(0.94) 486 31 hom unknown deletion chr3 rs11343439 - - 0.4314 intronic PDZRN3 Reference - - - - - - - - PDZRN3 chr3 75714806 75714806 G - 210/64(0.23) 1998 274 het frameshift deletion chr3 rs144577984 - - 0.0368 exonic FRG2C Reference - - - - - - - - FRG2C,NM_001124759,exon4,c.463delG,p.G155fs chr3 75714825 75714825 G - 237/42(0.15) 1071 279 het frameshift deletion chr3 rs35672165 - - 0.0221 exonic FRG2C Reference - - - - - - - - FRG2C,NM_001124759,exon4,c.482delG,p.R161fs chr3 75781138 75781138 - T 45/19(0.30) 963 64 het unknown insertion chr3 rs148038933 - - 0.0343 intergenic LINC00960;ZNF717 Reference - - - - - - - - ZNF717(dist=4891);LINC00960(dist=52684) chr3 75790636 75790636 - AC 78/10(0.11) 322 88 het unknown insertion chr3 rs147192756 - - 0.0613 intronic ZNF717 Reference - - - - - - - - ZNF717 chr3 77607070 77607070 - C 0/41(1.00) 2408 41 hom unknown insertion chr3 rs79493675 0.79 0.742259 0.4265 intronic ROBO2 Reference - - - - - - - - ROBO2 chr3 77613987 77613987 - TG 6/3(0.33) 122 9 het unknown insertion chr3 - - - 0.1324 intronic ROBO2 Reference - - - - - - - - ROBO2 chr3 77645947 77645947 T - 0/13(1.00) 150 13 hom unknown deletion chr3 rs35328861 - - 0.3480 intronic ROBO2 Reference - - - - - - - - ROBO2 chr3 77666937 77666937 A - 4/4(0.50) 157 8 het unknown deletion chr3 rs78824327 0.24 0.064873 0.2451 intronic ROBO2 Reference - - - - - - - - ROBO2 chr3 81548209 81548209 - AAG 15/14(0.48) 754 29 het unknown insertion chr3 rs34988523 0.42 - 0.2892 intronic GBE1 Reference - - - - - - - - GBE1 chr3 81584269 81584269 T - 3/14(0.82) 144 17 het unknown deletion chr3 rs60133692 - - 0.2892 intronic GBE1 Reference - - - - - - - - GBE1 chr3 81627277 81627277 - A 33/24(0.42) 386 57 het unknown insertion chr3 rs138020053 - - 0.0392 intronic GBE1 Reference - - - - - - - - GBE1 chr3 81810702 81810702 - G 0/11(1.00) 615 11 hom unknown insertion chr3 - - 0.999820 0.4216 5-UTR GBE1 Reference - - - - - - - - GBE1 chr3 88199185 88199185 - C 1/92(0.99) 3070 93 hom unknown insertion chr3 rs11425443 0.84 0.726481 0.5490 5-UTR C3orf38 Reference - - - - - - - - C3orf38 chr3 93769735 93769735 - G 29/35(0.55) 1860 64 het frameshift insertion chr3 - - - - exonic ARL13B Reference - - - - - - - - ARL13B,NM_001174151,exon8,c.901dupG,p.N300fs;ARL13B,NM_182896,exon9,c.1210dupG,p.N403fs;ARL13B,NM_144996,exon7,c.889dupG,p.N296fs;ARL13B,NM_001174150,exon9,c.1210dupG,p.N403fs chr3 97367230 97367230 - A 21/20(0.49) 1096 41 het unknown insertion chr3 - 0.68 0.620909 0.3529 3-UTR EPHA6 Reference - - - - - - - - EPHA6 chr3 97467362 97467365 TCTC - 10/13(0.57) 605 23 het unknown deletion chr3 rs138837886 - - 0.3725 intronic EPHA6 Reference - - - - - - - - EPHA6 chr3 97619250 97619250 - AACTA 0/15(1.00) 902 15 hom unknown insertion chr3 rs5851085 - 0.425121 0.3358 intronic CRYBG3 Reference - - - - - - - - CRYBG3 chr3 97806977 97806977 - T 15/11(0.42) 324 26 het unknown insertion chr3 - 0.04 0.091580 0.0441 downstream OR5AC2 Reference - - - - - - - - OR5AC2 chr3 97887844 97887844 T - 109/87(0.44) 2241 196 het frameshift deletion chr3 - - 0.015817 0.0515 exonic OR5H15 Reference - - - - - - - - OR5H15,NM_001005515,exon1,c.301delT,p.F101fs chr3 98240317 98240317 - A 33/31(0.48) 1719 64 het unknown insertion chr3 rs142862428 0.28 0.092477 0.2623 intronic CLDND1 Reference - - - - - - - - CLDND1 chr3 98518160 98518160 - A 1/23(0.96) 492 24 hom unknown insertion chr3 rs113737993 - - 0.3799 3-UTR DCBLD2 Reference - - - - - - - - DCBLD2 chr3 100016726 100016726 - T 10/7(0.41) 83 17 het unknown insertion chr3 rs3832199 - - 0.3064 intronic TBC1D23 Reference - - - - - - - - TBC1D23 chr3 100030628 100030628 - T 21/21(0.50) 494 42 het unknown insertion chr3 rs78488980 0.48 - 0.3333 intronic TBC1D23 Reference - - - - - - - - TBC1D23 chr3 100092526 100092526 - G 17/20(0.54) 1108 37 het unknown insertion chr3 rs11384494 0.92 0.717998 0.3505 intronic TOMM70A Reference - - - - - - - - TOMM70A chr3 100092528 100092528 - GCA 16/20(0.56) 1111 36 het unknown insertion chr3 rs75311651 - - 0.3652 intronic TOMM70A Reference - - - - - - - - TOMM70A chr3 100238232 100238233 TG - 5/7(0.58) 310 12 het unknown deletion chr3 rs67473840 - - 0.2721 intronic TMEM45A Reference - - - - - - - - TMEM45A chr3 100295909 100295909 - TTGTCT 19/11(0.37) 588 30 het unknown insertion chr3 rs5851214 0.32 0.194018 0.3088 3-UTR TMEM45A Reference - - - - - - - - TMEM45A chr3 100455610 100455610 G - 0/15(1.00) 785 15 hom unknown deletion chr3 rs3830581 0.48 0.224245 0.4044 intronic TFG Reference - - - - - - - - TFG chr3 101446208 101446209 AT - 27/18(0.40) 819 45 het unknown deletion chr3 rs3070526 0.31 0.327823 0.2941 intronic CEP97 Reference - - - - - - - - CEP97 chr3 101576029 101576029 - ACTTTTAGAAAGCTTTAATAACC 1/57(0.98) 3070 58 hom splicing insertion chr3 rs3217713 0.67 0.807594 0.3554 splicing NFKBIZ Reference - - - - - - - - NM_031419,exon10,c.1935+2->ACTTTTAGAAAGCTTTAATAACC);NFKBIZ(NM_001005474,exon11,c.1635+2->ACTTTTAGAAAGCTTTAATAACC chr3 105238891 105238891 T - 2/100(0.98) 1901 102 hom unknown deletion chr3 rs11291806 - - 0.4240 intronic ALCAM Reference - - - - - - - - ALCAM chr3 105412286 105412286 - TT 0/14(1.00) 839 14 hom unknown insertion chr3 - - 0.996723 0.4730 intronic CBLB Reference - - - - - - - - CBLB chr3 105495176 105495176 T - 8/6(0.43) 249 14 het unknown deletion chr3 rs3836269 0.42 - 0.2917 intronic CBLB Reference - - - - - - - - CBLB chr3 107463457 107463457 G - 0/32(1.00) 1724 32 hom unknown deletion chr3 rs3838316 0.94 0.347229 0.3897 intronic BBX Reference - - - - - - - - BBX chr3 107524112 107524112 - T 0/25(1.00) 1531 25 hom unknown insertion chr3 rs72589641 0.91 - 0.4485 intronic BBX Reference - - - - - - - - BBX chr3 108135607 108135608 AA - 0/33(1.00) 615 33 hom unknown deletion chr3 rs56933265 - - 0.4608 intronic MYH15 Reference - - - - - - - - MYH15 chr3 108156252 108156252 - A 5/7(0.58) 98 12 het unknown insertion chr3 - - - 0.2672 intronic MYH15 Reference - - - - - - - - MYH15 chr3 108156633 108156633 - AAAG 6/7(0.54) 341 13 het unknown insertion chr3 rs113832514 - - 0.3995 intronic MYH15 Reference - - - - - - - - MYH15 chr3 108179220 108179220 A - 3/33(0.92) 391 36 hom unknown deletion chr3 rs11303627 - - 0.3971 intronic MYH15 Reference - - - - - - - - MYH15 chr3 108211869 108211869 - AAGGAAGG 1/42(0.98) 2487 43 hom unknown insertion chr3 - - - 0.2402 intronic MYH15 Reference - - - - - - - - MYH15 chr3 108229437 108229437 - A 19/21(0.53) 302 40 het unknown insertion chr3 rs150536264 - - 0.4142 intronic MYH15 Reference - - - - - - - - MYH15 chr3 108272414 108272414 - A 13/5(0.28) 107 18 het unknown insertion chr3 - 0.39 - 0.2721 intronic KIAA1524 Reference - - - - - - - - KIAA1524 chr3 108286947 108286947 - A 8/6(0.43) 115 14 het unknown insertion chr3 - - - 0.3039 intronic KIAA1524 Reference - - - - - - - - KIAA1524 chr3 108327050 108327050 - AAC 6/4(0.40) 182 10 het unknown insertion chr3 rs10684119 - - 0.2990 intronic DZIP3 Reference - - - - - - - - DZIP3 chr3 108355576 108355576 T - 2/34(0.94) 474 36 hom unknown deletion chr3 rs10711080 - - 0.4044 intronic DZIP3 Reference - - - - - - - - DZIP3 chr3 110830747 110830752 TGTGTG - 1/4(0.80) 165 5 het unknown deletion chr3 rs10581136 - - 0.0784 intronic PVRL3 Reference - - - - - - - - PVRL3 chr3 111261242 111261242 - CTGCTGAAATTGATCACCA 9/10(0.53) 533 19 het unknown insertion chr3 rs3832264 0.48 - 0.2745 intronic CD96 Reference - - - - - - - - CD96 chr3 111316886 111316886 - TTATG 8/8(0.50) 416 16 het unknown insertion chr3 rs3215207 0.21 - 0.2010 intronic CD96 Reference - - - - - - - - CD96 chr3 111685375 111685376 GT - 0/24(1.00) 1269 24 hom unknown deletion chr3 rs71131994 - - 0.2475 intronic PHLDB2 Reference - - - - - - - - PHLDB2 chr3 111705275 111705275 - TTTGTTTTGT 16/6(0.27) 269 22 het unknown insertion chr3 - - - 0.1152 intronic ABHD10 Reference - - - - - - - - ABHD10 chr3 111732522 111732522 - C 23/18(0.44) 991 41 het unknown insertion chr3 - - - - 3-UTR TAGLN3 Reference - - - - - - - - TAGLN3 chr3 111805438 111805438 - T 0/21(1.00) 1279 21 hom unknown insertion chr3 rs72585127 - 0.645698 0.4265 intronic C3orf52 Reference - - - - - - - - C3orf52 chr3 111999736 111999736 - CTTGTTTTCT 3/5(0.62) 251 8 het unknown insertion chr3 rs147052896 - - 0.2966 intronic SLC9C1 Reference - - - - - - - - SLC9C1 chr3 112253058 112253058 - A 35/25(0.42) 403 60 het frameshift insertion chr3 rs139705694 - 0.601022 0.4216 exonic ATG3 Reference - - - - - - - - ATG3,NM_001278712,exon11,c.920dupT,p.L307fs chr3 112253194 112253194 A - 6/31(0.84) 212 37 het unknown deletion chr3 rs59973980 - - 0.0662 intronic ATG3 Reference - - - - - - - - ATG3 chr3 112301458 112301458 - CTTAGTAAT 0/47(1.00) 2917 47 hom unknown insertion chr3 rs5851844 - - 0.4093 intronic SLC35A5 Reference - - - - - - - - SLC35A5 chr3 112538572 112538572 T - 6/5(0.45) 41 11 het unknown deletion chr3 rs35585943 - 0.664999 0.4044 intronic CD200R1L Reference - - - - - - - - CD200R1L chr3 113013848 113013848 - T 0/15(1.00) 902 15 hom unknown insertion chr3 rs72585156 0.74 - 0.3578 intronic WDR52 Reference - - - - - - - - WDR52 chr3 113060576 113060576 - A 9/10(0.53) 183 19 het unknown insertion chr3 rs111269667 0.11 - 0.1103 intronic WDR52 Reference - - - - - - - - WDR52 chr3 113376111 113376113 TGC - 1/34(0.97) 1710 35 hom nonframeshift deletion chr3 rs10606566 - - 0.3113 exonic KIAA2018 Reference - - - - - - - - KIAA2018,NM_001009899,exon7,c.4416_4418del,p.1472_1473del chr3 113514686 113514686 A - 12/15(0.56) 707 27 het unknown deletion chr3 rs3217358 0.02 - 0.0368 intronic ATP6V1A Reference - - - - - - - - ATP6V1A chr3 113517029 113517029 T - 8/8(0.50) 206 16 het unknown deletion chr3 rs200783945 0.02 - 0.0490 intronic ATP6V1A Reference - - - - - - - - ATP6V1A chr3 113557788 113557790 GCC - 0/64(1.00) 3070 64 hom unknown deletion chr3 rs66781755 - 0.970793 0.4730 intronic GRAMD1C Reference - - - - - - - - GRAMD1C chr3 113664184 113664185 AG - 15/3(0.17) 72 18 het unknown deletion chr3 rs138608067 - - 0.2598 intronic GRAMD1C Reference - - - - - - - - GRAMD1C chr3 113785150 113785154 TATGT - 20/10(0.33) 423 30 het unknown deletion chr3 rs3830297 0.17 0.096421 0.1397 intronic QTRTD1 Reference - - - - - - - - QTRTD1 chr3 113955056 113955056 A - 11/15(0.58) 116 26 het unknown deletion chr3 rs11316836 - - 0.3333 3-UTR ZNF80 Reference - - - - - - - - ZNF80 chr3 116163635 116163636 AC - 6/16(0.73) 783 22 het unknown deletion chr3 rs138580275 - - 0.3505 intronic LSAMP Reference - - - - - - - - LSAMP chr3 116163656 116163656 C - 39/5(0.11) 105 44 het unknown deletion chr3 - - - - intronic LSAMP Reference - - - - - - - - LSAMP chr3 118865127 118865129 GAA - 72/58(0.45) 2724 130 het nonframeshift deletion chr3 rs147862138 0.16 - 0.1593 exonic C3orf30 Reference - - - - - - - - C3orf30,NM_152539,exon1,c.91_93del,p.31_31del chr3 118913261 118913261 - C 28/20(0.42) 946 48 het unknown insertion chr3 - 0.24 0.241255 0.2843 intronic UPK1B Reference - - - - - - - - UPK1B chr3 118922650 118922650 - A 4/7(0.64) 176 11 het unknown insertion chr3 - - - 0.2328 intronic UPK1B Reference - - - - - - - - UPK1B chr3 119327605 119327605 C - 23/21(0.48) 672 44 het unknown deletion chr3 rs5852212 0.49 0.264335 0.3799 intronic PLA1A Reference - - - - - - - - PLA1A chr3 119328450 119328456 AGGCTTT - 23/25(0.52) 1196 48 het unknown deletion chr3 rs3832185 0.49 0.208373 0.3456 intronic PLA1A Reference - - - - - - - - PLA1A chr3 119372844 119372844 - G 1/3(0.75) 127 4 het unknown insertion chr3 - 0.71 - 0.3015 intronic POPDC2 Reference - - - - - - - - POPDC2 chr3 119904366 119904366 - CTG 6/4(0.40) 182 10 het unknown insertion chr3 rs5852234 0.59 - 0.3480 intronic GPR156 Reference - - - - - - - - GPR156 chr3 120130883 120130883 - AC 4/8(0.67) 428 12 het unknown insertion chr3 - - - 0.1642 intronic FSTL1 Reference - - - - - - - - FSTL1 chr3 121100117 121100117 T - 0/18(1.00) 413 18 hom unknown deletion chr3 rs35624942 - - 0.3725 intronic STXBP5L Reference - - - - - - - - STXBP5L chr3 121195303 121195306 ACAC - 2/24(0.92) 1202 26 het unknown deletion chr3 rs71916485 - - 0.3652 intronic POLQ Reference - - - - - - - - POLQ chr3 121212278 121212278 T - 0/21(1.00) 436 21 hom unknown deletion chr3 rs11351457 0.87 0.613244 0.3775 intronic POLQ Reference - - - - - - - - POLQ chr3 121500480 121500493 ACACACACACACAC - 0/21(1.00) 1117 21 hom unknown deletion chr3 rs149985093 - - 0.1152 intronic IQCB1 Reference - - - - - - - - IQCB1 chr3 121810428 121810428 T - 1/203(1.00) 3070 204 hom unknown deletion chr3 rs63114861 - 0.995847 0.4902 intronic CD86 Reference - - - - - - - - CD86 chr3 121836967 121836968 GA - 0/91(1.00) 3070 91 hom unknown deletion chr3 rs10580127 - 0.999681 0.4877 intronic CD86 Reference - - - - - - - - CD86 chr3 122285219 122285219 T - 2/4(0.67) 74 6 het unknown deletion chr3 rs68028452 - - 0.2230 intronic DTX3L Reference - - - - - - - - DTX3L chr3 122459290 122459290 - AGA 0/83(1.00) 3070 83 hom nonframeshift insertion chr3 rs16338 - 0.165868 0.1642 exonic HSPBAP1 Reference - - - - - - - - HSPBAP1,NM_024610,exon8,c.1368_1369insTCT,p.Q457delinsSQ chr3 122864588 122864591 AGAC - 7/6(0.46) 252 13 het unknown deletion chr3 rs3215241 0.46 - 0.3284 intronic PDIA5 Reference - - - - - - - - PDIA5 chr3 123066555 123066555 - AAGG 1/38(0.97) 2310 39 hom unknown insertion chr3 rs112525497 - - 0.5539 intronic ADCY5 Reference - - - - - - - - ADCY5 chr3 123066884 123066887 GTGT - 2/3(0.60) 108 5 het unknown deletion chr3 - - - 0.0098 intronic ADCY5 Reference - - - - - - - - ADCY5 chr3 123419117 123419119 TTC - 138/110(0.44) 3070 248 het nonframeshift deletion chr3 rs201955651 0.48 0.018288 0.5196 exonic MYLK Reference - - - - - - - - MYLK,NM_053028,exon17,c.2989_2991del,p.997_997del;MYLK,NM_053026,exon17,c.2989_2991del,p.997_997del;MYLK,NM_053027,exon18,c.3196_3198del,p.1066_1066del;MYLK,NM_053025,exon18,c.3196_3198del,p.1066_1066del chr3 124196239 124196239 T - 0/64(1.00) 2816 64 hom unknown deletion chr3 rs3214750 0.50 0.084172 0.3505 intronic KALRN Reference - - - - - - - - KALRN chr3 124352487 124352489 TGT - 1/5(0.83) 206 6 het unknown deletion chr3 - - - 0.1176 intronic KALRN Reference - - - - - - - - KALRN chr3 124369640 124369640 - A 0/75(1.00) 3070 75 hom unknown insertion chr3 rs11372663 0.91 0.714183 0.5098 intronic KALRN Reference - - - - - - - - KALRN chr3 124629223 124629223 A - 29/43(0.60) 491 72 het unknown deletion chr3 rs34208404 - - 0.2892 intronic MUC13 Reference - - - - - - - - MUC13 chr3 124646705 124646705 - AAG 0/95(1.00) 3070 95 hom nonframeshift insertion chr3 rs10630030 - 0.986983 0.6985 exonic MUC13 Reference - - - - - - - - MUC13,NM_033049,exon2,c.184_185insCTT,p.F62delinsSF chr3 124696808 124696808 A - 0/11(1.00) 362 11 hom unknown deletion chr3 rs61603696 0.36 0.223781 0.3039 intronic HEG1 Reference - - - - - - - - HEG1 chr3 124732419 124732419 - GAGGAGGAGGAGGAAGAG 37/23(0.38) 1117 60 het nonframeshift insertion chr3 - - - 0.2304 exonic HEG1 Reference - - - - - - - - HEG1,NM_020733,exon6,c.2003_2004insCTCTTCCTCCTCCTCCTC,p.S668delinsSSSSSSS chr3 124998098 124998098 - AAA 5/5(0.50) 40 10 het unknown insertion chr3 rs200886709 - - 0.2230 intronic ZNF148 Reference - - - - - - - - ZNF148 chr3 125725269 125725272 AACA - 48/23(0.32) 1019 71 het frameshift deletion chr3 rs138918975 0.12 0.184635 0.2157 exonic SLC41A3 Reference - - - - - - - - SLC41A3,NM_001008486,exon11,c.1394_1397del,p.465_466del;SLC41A3,NM_001008485,exon12,c.1502_1505del,p.501_502del chr3 125831573 125831574 GC - 8/18(0.69) 875 26 het unknown deletion chr3 rs4646744 0.21 - 0.2328 intronic ALDH1L1 Reference - - - - - - - - ALDH1L1 chr3 125854312 125854312 C - 20/28(0.58) 740 48 het unknown deletion chr3 rs3216713 0.34 - 0.3701 intronic ALDH1L1 Reference - - - - - - - - ALDH1L1 chr3 126132803 126132803 G - 3/6(0.67) 174 9 het unknown deletion chr3 rs11336108 0.42 - 0.2819 intronic CCDC37 Reference - - - - - - - - CCDC37 chr3 126157464 126157464 - G 9/11(0.55) 593 20 het unknown insertion chr3 rs74777620 0.50 - 0.3162 intronic ZXDC Reference - - - - - - - - ZXDC chr3 126160885 126160888 ATTA - 2/4(0.67) 163 6 het unknown deletion chr3 rs63288960 0.49 - 0.2892 intronic ZXDC Reference - - - - - - - - ZXDC chr3 126185265 126185265 - T 23/16(0.41) 663 39 het unknown insertion chr3 rs142822736 0.52 - 0.3971 intronic ZXDC Reference - - - - - - - - ZXDC chr3 126211479 126211479 - CTCT 15/6(0.29) 274 21 het unknown insertion chr3 rs2307882 - - 0.3750 intronic UROC1 Reference - - - - - - - - UROC1 chr3 126365127 126365127 - T 0/12(1.00) 713 12 hom unknown insertion chr3 rs11453652 0.89 - 0.3382 intronic TXNRD3 Reference - - - - - - - - TXNRD3 chr3 128348735 128348735 - A 0/11(1.00) 349 11 hom unknown insertion chr3 - 0.77 - 0.3873 intronic RPN1 Reference - - - - - - - - RPN1 chr3 128614075 128614075 - A 10/9(0.47) 127 19 het unknown insertion chr3 - - - 0.3431 intronic ACAD9 Reference - - - - - - - - ACAD9 chr3 128629505 128629505 - TGAT 33/17(0.34) 878 50 het unknown insertion chr3 rs71618173 - - 0.3848 intronic ACAD9 Reference - - - - - - - - ACAD9 chr3 128859202 128859202 - TTAG 0/91(1.00) 3070 91 hom unknown insertion chr3 rs10664499 0.99 0.978387 0.4828 intronic ISY1;ISY1-RAB43 Reference - - - - - - - - ISY1-RAB43;ISY1 chr3 129236145 129236146 AG - 2/4(0.67) 142 6 het unknown deletion chr3 - - - 0.0074 intronic IFT122 Reference - - - - - - - - IFT122 chr3 130327631 130327635 TTTTG - 9/2(0.18) 38 11 het unknown deletion chr3 - - - - intronic COL6A6 Reference - - - - - - - - COL6A6 chr3 130744636 130744646 AGGTGTGTAGG - 3/4(0.57) 160 7 het unknown deletion chr3 - - - - intronic ASTE1 Reference - - - - - - - - ASTE1 chr3 131186908 131186908 A - 6/4(0.40) 34 10 het unknown deletion chr3 - - 0.125801 0.0711 intronic MRPL3 Reference - - - - - - - - MRPL3 chr3 131261663 131261663 G - 3/74(0.96) 1768 77 hom unknown deletion chr3 rs10716194 - - 0.5515 intronic CPNE4 Reference - - - - - - - - CPNE4 chr3 132069029 132069031 AAG - 6/6(0.50) 255 12 het unknown deletion chr3 rs146085277 0.10 - 0.1201 intronic ACPP Reference - - - - - - - - ACPP chr3 132153333 132153333 - AG 0/88(1.00) 3070 88 hom unknown insertion chr3 rs10662251 - 0.307858 0.1838 intronic DNAJC13 Reference - - - - - - - - DNAJC13 chr3 132182444 132182444 G - 0/14(1.00) 730 14 hom unknown deletion chr3 rs11328911 0.25 - 0.1471 intronic DNAJC13 Reference - - - - - - - - DNAJC13 chr3 132436902 132436902 T - 0/11(1.00) 280 11 hom unknown deletion chr3 rs35348816 - - 0.3725 ncRNA_intronic NPHP3-ACAD11 Reference - - - - - - - - NPHP3-ACAD11 chr3 133556965 133556976 CCGTGCCGGGCC - 12/13(0.52) 602 25 het unknown deletion chr3 rs139009223 0.44 0.568371 0.3505 intronic RAB6B Reference - - - - - - - - RAB6B chr3 134277195 134277195 - T 2/7(0.78) 215 9 het unknown insertion chr3 rs35934324 - 0.335785 0.1765 intronic CEP63 Reference - - - - - - - - CEP63 chr3 136739388 136739388 T - 0/42(1.00) 2277 42 hom unknown deletion chr3 rs63332362 0.88 - 0.4093 intergenic IL20RB;SOX14 Reference - - - - - - - - SOX14(dist=743746);IL20RB(dist=9462) chr3 138043536 138043539 ACAC - 1/3(0.75) 113 4 het unknown deletion chr3 - - - 0.0147 intronic NME9 Reference - - - - - - - - NME9 chr3 138668234 138668237 GTGT - 1/4(0.80) 166 5 het unknown deletion chr3 - - - 0.0098 intronic C3orf72 Reference - - - - - - - - C3orf72 chr3 139108250 139108250 - TG 0/25(1.00) 1531 25 hom unknown insertion chr3 rs3215032 - - 0.3971 intronic COPB2 Reference - - - - - - - - COPB2 chr3 139280328 139280328 - A 0/14(1.00) 839 14 hom unknown insertion chr3 rs72584875 0.98 - 0.4681 intronic NMNAT3 Reference - - - - - - - - NMNAT3 chr3 141884300 141884300 T - 0/18(1.00) 619 18 hom unknown deletion chr3 rs68066632 0.12 - 0.0907 3-UTR GK5 Reference - - - - - - - - GK5 chr3 142094816 142094816 - CACA 2/10(0.83) 537 12 het unknown insertion chr3 - - 0.227033 0.2034 intronic XRN1 Reference - - - - - - - - XRN1 chr3 142272275 142272275 - AC 18/6(0.25) 285 24 het unknown insertion chr3 rs142950892 - - 0.2574 intronic ATR Reference - - - - - - - - ATR chr3 145828256 145828256 - T 0/29(1.00) 1783 29 hom unknown insertion chr3 - 0.56 0.394838 0.3799 intronic PLOD2 Reference - - - - - - - - PLOD2 chr3 146311938 146311938 A - 4/8(0.67) 106 12 het unknown deletion chr3 rs147223969 - 0.301478 0.1397 intronic PLSCR5 Reference - - - - - - - - PLSCR5 chr3 148714842 148714843 TG - 4/4(0.50) 109 8 het unknown deletion chr3 rs151126996 - - 0.1471 intronic GYG1 Reference - - - - - - - - GYG1 chr3 148868293 148868293 C - 1/3(0.75) 82 4 het unknown deletion chr3 rs150286093 0.28 - 0.2353 intronic HPS3 Reference - - - - - - - - HPS3 chr3 148885779 148885779 - T 6/15(0.71) 270 21 het unknown insertion chr3 rs11426099 - 0.393343 0.2549 intronic HPS3 Reference - - - - - - - - HPS3 chr3 149563969 149563972 AAAG - 8/12(0.60) 562 20 het unknown deletion chr3 rs137943545 0.06 - 0.1152 intronic RNF13 Reference - - - - - - - - RNF13 chr3 149679148 149679148 - A 8/15(0.65) 172 23 het unknown insertion chr3 - - - 0.3456 3-UTR RNF13 Reference - - - - - - - - RNF13 chr3 149686368 149686368 C - 9/36(0.80) 1827 45 het unknown deletion chr3 rs138230307 0.94 - 0.3922 intronic PFN2 Reference - - - - - - - - PFN2 chr3 150280507 150280507 A - 14/20(0.59) 660 34 het unknown deletion chr3 rs5853483 0.50 - 0.3578 intronic EIF2A Reference - - - - - - - - EIF2A chr3 150660549 150660549 - GT 7/5(0.42) 239 12 het unknown insertion chr3 rs201613555 0.27 - 0.1887 intronic CLRN1 Reference - - - - - - - - CLRN1 chr3 150660555 150660559 TCTCA - 6/5(0.45) 203 11 het unknown deletion chr3 rs199767542 0.27 - 0.1961 intronic CLRN1 Reference - - - - - - - - CLRN1 chr3 151085843 151085845 AAT - 0/22(1.00) 1135 22 hom unknown deletion chr3 rs3841945 0.29 - 0.2426 intronic MED12L;P2RY12 Reference - - - - - - - - MED12L;P2RY12 chr3 151545322 151545322 T - 1/3(0.75) 76 4 het unknown deletion chr3 rs11306821 - 0.776810 0.2917 intronic AADAC Reference - - - - - - - - AADAC chr3 154010515 154010515 - AC 1/8(0.89) 292 9 het unknown insertion chr3 - - - 0.0319 intronic DHX36 Reference - - - - - - - - DHX36 chr3 154010515 154010515 - ACAC 1/8(0.89) 292 9 het unknown insertion chr3 rs113203999 - - 0.0074 intronic DHX36 Reference - - - - - - - - DHX36 chr3 155205993 155205993 - T 19/22(0.54) 348 41 het unknown insertion chr3 - - - 0.3211 intronic PLCH1 Reference - - - - - - - - PLCH1 chr3 155212325 155212325 - A 0/73(1.00) 2880 73 hom unknown insertion chr3 - 0.93 0.855694 0.4951 intronic PLCH1 Reference - - - - - - - - PLCH1 chr3 155523376 155523379 CGCA - 3/3(0.50) 108 6 het unknown deletion chr3 rs10563990 0.84 - 0.2770 intronic C3orf33 Reference - - - - - - - - C3orf33 chr3 156867776 156867776 - AA 15/18(0.55) 430 33 het unknown insertion chr3 rs76269282 - 0.376058 0.3824 intronic CCNL1 Reference - - - - - - - - CCNL1 chr3 156978919 156978919 - T 75/68(0.48) 3070 143 het unknown insertion chr3 rs35386937 0.58 0.367833 0.4706 3-UTR VEPH1 Reference - - - - - - - - VEPH1 chr3 157031337 157031337 A - 3/4(0.57) 56 7 het unknown deletion chr3 rs34067114 - - 0.1887 intronic VEPH1 Reference - - - - - - - - VEPH1 chr3 157082082 157082082 - AA 9/5(0.36) 233 14 het unknown insertion chr3 - 0.79 0.717457 0.3358 intronic VEPH1 Reference - - - - - - - - VEPH1 chr3 158072777 158072777 A - 0/17(1.00) 296 17 hom unknown deletion chr3 rs5853823 - - 0.3260 intronic RSRC1 Reference - - - - - - - - RSRC1 chr3 158310392 158310395 AGTT - 0/58(1.00) 3070 58 hom unknown deletion chr3 rs34234841 0.62 0.318719 0.4314 intronic MLF1 Reference - - - - - - - - MLF1 chr3 158537432 158537432 A - 15/6(0.29) 366 21 het unknown deletion chr3 - - - 0.0123 intronic MFSD1 Reference - - - - - - - - MFSD1 chr3 160136649 160136649 - TT 2/2(0.50) 65 4 het unknown insertion chr3 rs112570418 0.02 - 0.0441 intronic SMC4 Reference - - - - - - - - SMC4 chr3 160144020 160144020 A - 9/10(0.53) 131 19 het unknown deletion chr3 - - - 0.0466 intronic SMC4 Reference - - - - - - - - SMC4 chr3 160939732 160939732 - ATCCCAAC 0/18(1.00) 1059 18 hom unknown insertion chr3 rs148371722 0.73 0.457221 0.3309 intronic NMD3 Reference - - - - - - - - NMD3 chr3 164758105 164758106 AG - 2/4(0.67) 163 6 het unknown deletion chr3 rs71833654 0.79 - 0.2672 intronic SI Reference - - - - - - - - SI chr3 164776913 164776913 - AT 40/23(0.37) 1218 63 het unknown insertion chr3 rs60170840 0.83 0.561502 0.4706 intronic SI Reference - - - - - - - - SI chr3 164786630 164786630 A - 14/11(0.44) 208 25 het unknown deletion chr3 rs11313475 0.83 0.582734 0.3627 intronic SI Reference - - - - - - - - SI chr3 167164049 167164049 - TA 4/7(0.64) 368 11 het unknown insertion chr3 rs3830596 0.31 - 0.2206 intronic SERPINI2 Reference - - - - - - - - SERPINI2 chr3 167166915 167166915 T - 2/4(0.67) 103 6 het unknown deletion chr3 rs148932798 0.08 - 0.0833 intronic SERPINI2 Reference - - - - - - - - SERPINI2 chr3 167512738 167512738 - TTCTTCTCCTTCTCT 2/5(0.71) 255 7 het unknown insertion chr3 rs150043168 0.06 - 0.0368 intronic SERPINI1 Reference - - - - - - - - SERPINI1 chr3 167762678 167762678 - A 5/7(0.58) 74 12 het unknown insertion chr3 - - - 0.1348 intronic GOLIM4 Reference - - - - - - - - GOLIM4 chr3 168542454 168542454 - CA 17/9(0.35) 423 26 het unknown insertion chr3 rs145528794 - - 0.2745 ncRNA_intronic EGFEM1P Reference - - - - - - - - EGFEM1P chr3 168542485 168542485 C - 20/21(0.51) 996 41 het unknown deletion chr3 rs201148184 - - 0.0662 ncRNA_intronic EGFEM1P Reference - - - - - - - - EGFEM1P chr3 168862970 168862981 ACACACACAGAG - 3/4(0.57) 159 7 het unknown deletion chr3 rs201958382 - - 0.1029 intronic MECOM Reference - - - - - - - - MECOM chr3 170099219 170099222 TTAT - 3/8(0.73) 348 11 het unknown deletion chr3 rs146524896 0.28 - 0.2108 intronic SKIL Reference - - - - - - - - SKIL chr3 170727702 170727703 GT - 11/3(0.21) 84 14 het unknown deletion chr3 - - - 0.0564 intronic SLC2A2 Reference - - - - - - - - SLC2A2 chr3 172003832 172003832 T - 0/12(1.00) 135 12 hom unknown deletion chr3 rs67373503 - - 0.2990 intronic FNDC3B Reference - - - - - - - - FNDC3B chr3 172224770 172224770 C - 0/27(1.00) 1413 27 hom unknown deletion chr3 rs111284464 0.62 - 0.3971 intronic TNFSF10 Reference - - - - - - - - TNFSF10 chr3 172473059 172473059 - AT 0/13(1.00) 776 13 hom unknown insertion chr3 rs148196973 0.14 0.110649 0.1642 intronic ECT2 Reference - - - - - - - - ECT2 chr3 172634025 172634025 - TG 11/7(0.39) 323 18 het unknown insertion chr3 - - - 0.3578 intronic SPATA16 Reference - - - - - - - - SPATA16 chr3 175189407 175189407 T - 1/40(0.98) 841 41 hom unknown deletion chr3 rs35213579 - - 0.3799 intronic NAALADL2 Reference - - - - - - - - NAALADL2 chr3 179291309 179291309 T - 14/14(0.50) 195 28 het unknown deletion chr3 rs71907893 - 0.718125 0.3676 intronic ACTL6A Reference - - - - - - - - ACTL6A chr3 179463280 179463280 - CCTT 1/3(0.75) 118 4 het unknown insertion chr3 rs111706720 - - 0.1520 intronic USP13 Reference - - - - - - - - USP13 chr3 179481972 179481973 TG - 0/11(1.00) 517 11 hom unknown deletion chr3 rs71917525 - - 0.3578 intronic USP13 Reference - - - - - - - - USP13 chr3 183059540 183059540 - T 0/24(1.00) 1468 24 hom unknown insertion chr3 rs5854975 0.29 - 0.2157 intronic MCF2L2 Reference - - - - - - - - MCF2L2 chr3 183439972 183439972 - G 12/15(0.56) 823 27 het unknown insertion chr3 rs3841649 0.63 0.453983 0.4191 intronic YEATS2 Reference - - - - - - - - YEATS2 chr3 183480109 183480111 TGT - 2/7(0.78) 319 9 het unknown deletion chr3 rs144839665 0.53 0.393254 0.3750 intronic YEATS2 Reference - - - - - - - - YEATS2 chr3 183756836 183756836 - T 0/64(1.00) 3070 64 hom unknown insertion chr3 - - - 0.1838 3-UTR HTR3D Reference - - - - - - - - HTR3D chr3 183756837 183756837 - TCAGTCCAAATT 0/42(1.00) 2586 42 hom unknown insertion chr3 - - - 0.2868 3-UTR HTR3D Reference - - - - - - - - HTR3D chr3 183774872 183774872 - A 0/45(1.00) 2647 45 hom unknown insertion chr3 rs11432832 - 0.725843 0.4412 intronic HTR3C Reference - - - - - - - - HTR3C chr3 183996485 183996492 TTTCTTCT - 9/5(0.36) 195 14 het unknown deletion chr3 rs140658066 0.46 - 0.2868 intronic ECE2 Reference - - - - - - - - ECE2 chr3 184100961 184100961 - T 9/4(0.31) 145 13 het unknown insertion chr3 rs3833587 0.28 0.367538 0.2843 intronic CHRD Reference - - - - - - - - CHRD chr3 184106026 184106029 TCCA - 4/3(0.43) 61 7 het unknown deletion chr3 rs3064288 - - 0.1250 intronic CHRD Reference - - - - - - - - CHRD chr3 184106035 184106037 CCA - 5/4(0.44) 93 9 het unknown deletion chr3 rs72001388 - - 0.1029 intronic CHRD Reference - - - - - - - - CHRD chr3 184106039 184106039 C - 4/4(0.50) 92 8 het unknown deletion chr3 - - - 0.0956 intronic CHRD Reference - - - - - - - - CHRD chr3 184429133 184429133 - TCC 38/24(0.39) 1284 62 het nonframeshift insertion chr3 rs139699799 - - 0.3211 exonic MAGEF1 Reference - - - - - - - - MAGEF1,NM_022149,exon1,c.476_477insGGA,p.D159delinsED chr3 184675148 184675152 TTTTA - 0/43(1.00) 2332 43 hom unknown deletion chr3 rs141503641 0.61 0.180039 0.3407 intronic VPS8 Reference - - - - - - - - VPS8 chr3 185046910 185046910 T - 0/20(1.00) 475 20 hom unknown deletion chr3 rs34308085 - - 0.3627 intronic MAP3K13 Reference - - - - - - - - MAP3K13 chr3 185155430 185155430 - T 0/19(1.00) 373 19 hom unknown insertion chr3 - - - 0.3578 intronic MAP3K13 Reference - - - - - - - - MAP3K13 chr3 185985707 185985710 GTGT - 11/7(0.39) 290 18 het unknown deletion chr3 - - - 0.0049 intronic DGKG Reference - - - - - - - - DGKG chr3 186302391 186302391 - TTGTGTGTGTGTGT 0/30(1.00) 1668 30 hom unknown insertion chr3 rs140269415 - - 0.1569 intronic DNAJB11 Reference - - - - - - - - DNAJB11 chr3 186393076 186393077 GT - 4/2(0.33) 39 6 het unknown deletion chr3 - - - - intronic HRG Reference - - - - - - - - HRG chr3 186393074 186393077 GTGT - 4/2(0.33) 39 6 het unknown deletion chr3 - - - 0.0147 intronic HRG Reference - - - - - - - - HRG chr3 187086082 187086085 CAGA - 0/11(1.00) 565 11 hom unknown deletion chr3 rs5855133 0.70 - 0.3897 upstream RTP4 Reference - - - - - - - - RTP4 chr3 187419661 187419661 - CCTGCC 0/19(1.00) 1154 19 hom unknown insertion chr3 rs113681515 - - 0.4387 intronic RTP2 Reference - - - - - - - - RTP2 chr3 188242674 188242689 TCCTTCCGTCCGTCCT - 4/3(0.43) 101 7 het unknown deletion chr3 - - - - intronic LPP Reference - - - - - - - - LPP chr3 188242686 188242689 TCCT - 4/3(0.43) 101 7 het unknown deletion chr3 - - - - intronic LPP Reference - - - - - - - - LPP chr3 188326926 188326926 - T 0/32(1.00) 968 32 hom unknown insertion chr3 - - 0.144808 0.2966 intronic LPP Reference - - - - - - - - LPP chr3 188464248 188464248 - T 0/71(1.00) 3070 71 hom unknown insertion chr3 - 0.84 - 0.4093 intronic LPP Reference - - - - - - - - LPP chr3 188478197 188478197 - GTGTGT 3/13(0.81) 717 16 het unknown insertion chr3 - - - 0.2279 intronic LPP Reference - - - - - - - - LPP chr3 189690816 189690816 - A 13/13(0.50) 167 26 het unknown insertion chr3 - - - 0.3627 intronic LEPREL1 Reference - - - - - - - - LEPREL1 chr3 189690826 189690826 - C 19/6(0.24) 138 25 het unknown insertion chr3 rs200458285 - 0.187350 0.3088 intronic LEPREL1 Reference - - - - - - - - LEPREL1 chr3 189702396 189702396 A - 0/16(1.00) 276 16 hom unknown deletion chr3 rs11311050 - - 0.3676 intronic LEPREL1 Reference - - - - - - - - LEPREL1 chr3 189705288 189705288 G - 12/6(0.33) 197 18 het unknown deletion chr3 rs150885699 - - 0.0172 intronic LEPREL1 Reference - - - - - - - - LEPREL1 chr3 189712094 189712094 - AAAC 9/5(0.36) 232 14 het unknown insertion chr3 rs139834656 - - 0.3260 intronic LEPREL1 Reference - - - - - - - - LEPREL1 chr3 190333163 190333163 G - 17/14(0.45) 640 31 het unknown deletion chr3 rs35429399 0.80 - 0.3775 intronic IL1RAP Reference - - - - - - - - IL1RAP chr3 190345099 190345099 T - 0/23(1.00) 482 23 hom unknown deletion chr3 rs34908328 - - 0.4461 intronic IL1RAP Reference - - - - - - - - IL1RAP chr3 190580150 190580150 - G 7/3(0.30) 119 10 het unknown insertion chr3 - - - 0.2598 intronic GMNC Reference - - - - - - - - GMNC chr3 190580151 190580151 - GAC 8/4(0.33) 175 12 het unknown insertion chr3 - - - 0.1495 intronic GMNC Reference - - - - - - - - GMNC chr3 190580209 190580209 - AG 18/12(0.40) 633 30 het unknown insertion chr3 rs145134107 - - 0.1936 intronic GMNC Reference - - - - - - - - GMNC chr3 191074784 191074784 T - 0/15(1.00) 397 15 hom unknown deletion chr3 rs35377745 - - 0.2206 intronic CCDC50 Reference - - - - - - - - CCDC50 chr3 191888453 191888453 A - 11/14(0.56) 94 25 het unknown deletion chr3 rs34265167 - - 0.3113 intronic FGF12 Reference - - - - - - - - FGF12 chr3 193023586 193023586 A - 0/19(1.00) 842 19 hom unknown deletion chr3 rs5855481 0.62 - 0.3505 intronic ATP13A5 Reference - - - - - - - - ATP13A5 chr3 193120360 193120360 A - 5/10(0.67) 467 15 het unknown deletion chr3 rs142743757 0.10 - 0.1422 3-UTR ATP13A4 Reference - - - - - - - - ATP13A4 chr3 193332420 193332420 - TGTG 4/5(0.56) 248 9 het unknown insertion chr3 rs145894722 0.26 - 0.2770 intronic OPA1 Reference - - - - - - - - OPA1 chr3 194119047 194119047 A - 34/37(0.52) 1790 71 het unknown deletion chr3 rs148391579 0.08 0.036736 0.1201 intronic GP5 Reference - - - - - - - - GP5 chr3 194152378 194152378 T - 19/12(0.39) 263 31 het unknown deletion chr3 rs3841918 0.08 - 0.0907 intronic ATP13A3 Reference - - - - - - - - ATP13A3 chr3 194379646 194379646 - C 0/69(1.00) 3070 69 hom unknown insertion chr3 rs11438897 0.83 0.589682 0.4559 intronic LSG1 Reference - - - - - - - - LSG1 chr3 194379906 194379906 A - 0/11(1.00) 320 11 hom unknown deletion chr3 rs11357453 0.86 0.590030 0.4093 intronic LSG1 Reference - - - - - - - - LSG1 chr3 194390869 194390869 - A 0/52(1.00) 2048 52 hom unknown insertion chr3 rs79729723 0.86 0.624261 0.5294 intronic LSG1 Reference - - - - - - - - LSG1 chr3 194896233 194896233 - GA 27/16(0.37) 838 43 het unknown insertion chr3 rs201558663 0.26 - 0.1985 intronic XXYLT1 Reference - - - - - - - - XXYLT1 chr3 194896237 194896238 GA - 30/16(0.35) 706 46 het unknown deletion chr3 rs71988963 - - 0.2206 intronic XXYLT1 Reference - - - - - - - - XXYLT1 chr3 194896240 194896240 - GTG 29/16(0.36) 831 45 het unknown insertion chr3 rs200404095 - - 0.2181 intronic XXYLT1 Reference - - - - - - - - XXYLT1 chr3 195395356 195395357 TG - 46/8(0.15) 241 54 het unknown deletion chr3 rs113879828 - - 0.1863 ncRNA_intronic SDHAP2 Reference - - - - - - - - SDHAP2 chr3 195395549 195395549 - AT 125/33(0.21) 1532 158 het unknown insertion chr3 rs58717446 - - 0.4951 ncRNA_intronic SDHAP2 Reference - - - - - - - - SDHAP2 chr3 195399726 195399727 AA - 15/3(0.17) 46 18 het unknown deletion chr3 - - - 0.0074 ncRNA_intronic SDHAP2 Reference - - - - - - - - SDHAP2 chr3 195426649 195426650 TC - 4/6(0.60) 261 10 het unknown deletion chr3 rs63642461 0.51 - 0.3260 downstream MIR570 Reference - - - - - - - - MIR570 chr3 195538502 195538503 TC - 49/10(0.17) 337 59 het unknown deletion chr3 rs143120396 - - 0.0343 intronic MUC4 Reference - - - - - - - - MUC4 chr3 195954069 195954069 - CGTCACTTC 0/78(1.00) 3070 78 hom unknown insertion chr3 rs147316733 0.85 - 0.4534 intronic SLC51A Reference - - - - - - - - SLC51A chr3 196434874 196434875 CT - 0/21(1.00) 1117 21 hom unknown deletion chr3 rs61013516 0.55 - 0.4289 intronic CEP19 Reference - - - - - - - - CEP19 chr3 196435332 196435333 AG - 0/52(1.00) 2829 52 hom unknown deletion chr3 rs55901490 0.61 - 0.4412 intronic CEP19 Reference - - - - - - - - CEP19 chr3 196435606 196435606 - A 0/12(1.00) 440 12 hom unknown insertion chr3 rs76850793 0.55 - 0.3897 intronic CEP19 Reference - - - - - - - - CEP19 chr3 196657671 196657671 T - 0/62(1.00) 1565 62 hom unknown deletion chr3 rs63736860 - - 0.4681 intronic SENP5 Reference - - - - - - - - SENP5 chr3 196669488 196669488 - A 0/13(1.00) 776 13 hom unknown insertion chr3 rs3214858 0.78 - 0.4338 upstream NCBP2;NCBP2-AS2 Reference - - - - - - - - NCBP2;NCBP2-AS2 chr3 197432238 197432238 G - 16/11(0.41) 391 27 het unknown deletion chr3 rs201902269 0.04 - 0.0956 intronic KIAA0226 Reference - - - - - - - - KIAA0226 chr3 197500394 197500394 - TTTG 1/58(0.98) 3070 59 hom unknown insertion chr3 rs3830497 - - 0.3897 intronic FYTTD1 Reference - - - - - - - - FYTTD1 chr3 197619435 197619467 TCCTCAGTGAGCACCCTAATTCCTTTCACTCTG - 46/33(0.42) 1458 79 het unknown deletion chr3 - - - - intronic IQCG Reference - - - - - - - - IQCG chr3 197717643 197717643 - TATT 22/18(0.45) 973 40 het unknown insertion chr3 rs150387425 - - 0.0882 intronic LMLN Reference - - - - - - - - LMLN chr4 60310 60310 - T 121/14(0.10) 433 135 het unknown insertion chr4 - - - 0.0221 intronic ZNF595;ZNF718 Reference - - - - - - - - ZNF718;ZNF595 chr4 85995 85995 - A 2/40(0.95) 2268 42 hom unknown insertion chr4 - - 0.999326 0.2745 exonic ZNF595 Reference - - - - - - - - ZNF595 chr4 86016 86016 - C 0/26(1.00) 1619 26 hom unknown insertion chr4 rs149846134 - 0.998245 0.1642 exonic ZNF595 Reference - - - - - - - - ZNF595 chr4 86035 86035 C - 0/26(1.00) 1166 26 hom unknown deletion chr4 rs57594632 - - 0.1569 exonic ZNF595 Reference - - - - - - - - ZNF595 chr4 86101 86101 - C 1/85(0.99) 3070 86 hom unknown insertion chr4 rs112636666 - 0.999754 0.5270 exonic ZNF595 Reference - - - - - - - - ZNF595 chr4 87313 87313 - A 0/199(1.00) 3070 199 hom unknown insertion chr4 rs76861827 - - 0.5245 exonic ZNF595 Reference - - - - - - - - ZNF595 chr4 331693 331693 - C 0/95(1.00) 3070 95 hom unknown insertion chr4 rs5855672 - - 0.5515 5-UTR ZNF141 Reference - - - - - - - - ZNF141 chr4 343795 343795 - TGCT 40/27(0.40) 1457 67 het unknown insertion chr4 rs3037605 - - 0.3211 intronic ZNF141 Reference - - - - - - - - ZNF141 chr4 759008 759008 T - 1/4(0.80) 166 5 het unknown deletion chr4 - - - 0.0196 intronic PCGF3 Reference - - - - - - - - PCGF3 chr4 843623 843623 C - 1/26(0.96) 544 27 hom unknown deletion chr4 rs33919242 - - 0.2868 intronic GAK Reference - - - - - - - - GAK chr4 858874 858874 - C 0/54(1.00) 3070 54 hom unknown insertion chr4 rs3214922 0.82 0.653754 0.4877 intronic GAK Reference - - - - - - - - GAK chr4 860023 860023 - A 2/4(0.67) 194 6 het unknown insertion chr4 rs112381670 0.28 - 0.2451 intronic GAK Reference - - - - - - - - GAK chr4 892083 892085 GCA - 0/21(1.00) 1117 21 hom unknown deletion chr4 rs3830209 0.59 - 0.3971 intronic GAK Reference - - - - - - - - GAK chr4 1087168 1087168 - AT 0/17(1.00) 1028 17 hom unknown insertion chr4 rs113644850 - - 0.3284 3-UTR RNF212 Reference - - - - - - - - RNF212 chr4 1087327 1087327 - CTGCCCAGGCTGGAGCCAGCC 0/42(1.00) 2602 42 hom nonframeshift insertion chr4 rs138488801 - - 0.3235 exonic RNF212 Reference - - - - - - - - RNF212,NM_001193318,exon4,c.721_722insGGCTGGCTCCAGCCTGGGCAG,p.S241delinsWLAPAWAA chr4 1360238 1360238 G - 0/38(1.00) 1068 38 hom unknown deletion chr4 rs3216721 - 0.035783 0.2353 intronic UVSSA Reference - - - - - - - - UVSSA chr4 1373699 1373699 - TTT 0/13(1.00) 776 13 hom unknown insertion chr4 - - - 0.3603 intronic UVSSA Reference - - - - - - - - UVSSA chr4 1720793 1720793 - G 10/3(0.23) 110 13 het unknown insertion chr4 rs148117097 0.69 - 0.3015 intronic TMEM129 Reference - - - - - - - - TMEM129 chr4 1737404 1737404 - CT 0/33(1.00) 2016 33 hom unknown insertion chr4 rs34859791 - - 0.3946 intronic TACC3 Reference - - - - - - - - TACC3 chr4 1739519 1739527 GCCATCCCT - 27/28(0.51) 1327 55 het unknown deletion chr4 rs140693140 0.69 - 0.3897 intronic TACC3 Reference - - - - - - - - TACC3 chr4 1745808 1745818 GGGGCAGCAGC - 6/3(0.33) 99 9 het unknown deletion chr4 rs35206670 - - 0.1667 intronic TACC3 Reference - - - - - - - - TACC3 chr4 1746125 1746125 - T 5/5(0.50) 245 10 het unknown insertion chr4 rs72598767 0.69 - 0.3676 intronic TACC3 Reference - - - - - - - - TACC3 chr4 1809111 1809112 TG - 10/4(0.29) 139 14 het unknown deletion chr4 - - - 0.0147 3-UTR FGFR3 Reference - - - - - - - - FGFR3 chr4 1809128 1809129 GT - 0/16(1.00) 865 16 hom unknown deletion chr4 rs34562534 - - 0.4804 3-UTR FGFR3 Reference - - - - - - - - FGFR3 chr4 1988188 1988188 - CT 9/18(0.67) 1013 27 het unknown insertion chr4 rs3034718 - 0.285920 0.2353 ncRNA_exonic MIR943 Reference - - - - - - - - MIR943 chr4 2158118 2158118 C - 27/5(0.16) 87 32 het unknown deletion chr4 - - - - intronic POLN Reference - - - - - - - - POLN chr4 2158274 2158275 GA - 0/48(1.00) 2608 48 hom unknown deletion chr4 rs3216822 0.63 - 0.3676 intronic POLN Reference - - - - - - - - POLN chr4 2826218 2826218 - A 8/7(0.47) 356 15 het unknown insertion chr4 rs34274570 0.53 - 0.4093 intronic SH3BP2 Reference - - - - - - - - SH3BP2 chr4 3230860 3230861 AC - 2/3(0.60) 111 5 het unknown deletion chr4 - - - - intronic HTT Reference - - - - - - - - HTT chr4 3494450 3494450 C - 11/16(0.59) 522 27 het unknown deletion chr4 rs34230391 0.57 - 0.4265 intronic DOK7 Reference - - - - - - - - DOK7 chr4 3589720 3589720 A - 96/76(0.44) 2982 172 het unknown deletion chr4 rs59190481 - - 0.5956 ncRNA_exonic LINC00955 Reference - - - - - - - - LINC00955 chr4 3590826 3590827 AC - 3/11(0.79) 415 14 het unknown deletion chr4 - - - - ncRNA_exonic LINC00955 Reference - - - - - - - - LINC00955 chr4 3590824 3590827 ACAC - 3/11(0.79) 415 14 het unknown deletion chr4 rs72180705 - - 0.3431 ncRNA_exonic LINC00955 Reference - - - - - - - - LINC00955 chr4 4176709 4176709 - CT 0/17(1.00) 1028 17 hom unknown insertion chr4 rs144476164 0.92 - 0.5441 intergenic FAM86EP;OTOP1 Reference - - - - - - - - FAM86EP(dist=219561);OTOP1(dist=13821) chr4 4228029 4228029 - AAG 3/3(0.50) 131 6 het unknown insertion chr4 rs112013352 0.54 - 0.3088 intronic OTOP1 Reference - - - - - - - - OTOP1 chr4 4301503 4301503 G - 1/4(0.80) 131 5 het unknown deletion chr4 - - - 0.1495 intronic ZBTB49 Reference - - - - - - - - ZBTB49 chr4 4301506 4301506 G - 1/4(0.80) 166 5 het unknown deletion chr4 - - - 0.1471 intronic ZBTB49 Reference - - - - - - - - ZBTB49 chr4 4425422 4425422 - AG 0/13(1.00) 776 13 hom unknown insertion chr4 rs78893097 - - 0.4191 intronic STX18 Reference - - - - - - - - STX18 chr4 5448293 5448293 - A 17/17(0.50) 157 34 het unknown insertion chr4 - - - 0.0294 intronic STK32B Reference - - - - - - - - STK32B chr4 5527115 5527115 - T 18/9(0.33) 102 27 het frameshift insertion chr4 rs11426893 - - 0.2475 exonic C4orf6 Reference - - - - - - - - C4orf6,NM_005750,exon1,c.59dupT,p.I20fs chr4 5630471 5630471 A - 3/7(0.70) 70 10 het unknown deletion chr4 rs35103377 - - 0.3480 intronic EVC2 Reference - - - - - - - - EVC2 chr4 5747107 5747107 T - 18/17(0.49) 646 35 het unknown deletion chr4 rs3214258 0.17 0.219054 0.2206 intronic EVC Reference - - - - - - - - EVC chr4 5803830 5803830 C - 0/49(1.00) 1573 49 hom unknown deletion chr4 rs3214940 0.53 0.272161 0.4534 intronic EVC Reference - - - - - - - - EVC chr4 5841423 5841423 - AAAC 27/19(0.41) 1017 46 het unknown insertion chr4 rs71640227 - 0.555778 0.4510 intronic CRMP1 Reference - - - - - - - - CRMP1 chr4 5853685 5853702 AGGAGGAAGAGGAAGAGG - 0/10(1.00) 496 10 hom unknown deletion chr4 rs141990206 - - 0.1275 intronic CRMP1 Reference - - - - - - - - CRMP1 chr4 6292755 6292755 - AGGGGCATG 0/13(1.00) 777 13 hom unknown insertion chr4 rs55640037 - - 0.2598 intronic WFS1 Reference - - - - - - - - WFS1 chr4 6292758 6292758 - CA 0/15(1.00) 880 15 hom unknown insertion chr4 - - - 0.2083 intronic WFS1 Reference - - - - - - - - WFS1 chr4 6374230 6374230 - A 0/51(1.00) 3070 51 hom unknown insertion chr4 rs35520578 - 0.587366 0.5392 intronic PPP2R2C Reference - - - - - - - - PPP2R2C chr4 7064003 7064003 - C 0/15(1.00) 547 15 hom unknown insertion chr4 rs142511035 0.71 - 0.3554 intronic GRPEL1 Reference - - - - - - - - GRPEL1 chr4 7820693 7820693 - T 4/3(0.43) 60 7 het unknown insertion chr4 - - - 0.2255 intronic AFAP1 Reference - - - - - - - - AFAP1 chr4 8021782 8021782 A - 2/3(0.60) 79 5 het unknown deletion chr4 rs35828218 0.40 - 0.2402 intronic ABLIM2 Reference - - - - - - - - ABLIM2 chr4 8038182 8038182 C - 2/4(0.67) 103 6 het unknown deletion chr4 rs5856001 0.38 - 0.3309 intronic ABLIM2 Reference - - - - - - - - ABLIM2 chr4 8305555 8305556 CC - 1/3(0.75) 88 4 het unknown deletion chr4 rs35129704 0.60 - 0.2574 intronic HTRA3 Reference - - - - - - - - HTRA3 chr4 8620285 8620287 ACC - 52/48(0.48) 2310 100 het unknown deletion chr4 rs3214356 0.28 0.017489 0.3186 intronic CPZ Reference - - - - - - - - CPZ chr4 9998213 9998213 - GCCTG 2/4(0.67) 194 6 het unknown insertion chr4 rs10640118 - - 0.2500 intronic SLC2A9 Reference - - - - - - - - SLC2A9 chr4 10447986 10447986 T - 33/28(0.46) 1080 61 het unknown deletion chr4 rs35177766 0.60 0.522368 0.4559 5-UTR ZNF518B Reference - - - - - - - - ZNF518B chr4 13475415 13475417 ATC - 5/7(0.58) 310 12 het unknown deletion chr4 rs34962392 0.18 0.127524 0.1422 intronic RAB28 Reference - - - - - - - - RAB28 chr4 15706502 15706502 - TC 59/37(0.39) 2000 96 het unknown insertion chr4 rs35181008 0.35 0.458521 0.3015 intronic BST1 Reference - - - - - - - - BST1 chr4 15981885 15981885 - A 1/27(0.96) 691 28 hom unknown insertion chr4 - - - 0.3529 intronic PROM1 Reference - - - - - - - - PROM1 chr4 15982163 15982163 - G 13/14(0.52) 698 27 het unknown insertion chr4 rs34269395 0.40 0.588475 0.2770 intronic PROM1 Reference - - - - - - - - PROM1 chr4 15987505 15987505 - T 16/5(0.24) 211 21 het unknown insertion chr4 - - - 0.0809 intronic PROM1 Reference - - - - - - - - PROM1 chr4 15987508 15987508 - G 18/5(0.22) 205 23 het unknown insertion chr4 - - - 0.0882 intronic PROM1 Reference - - - - - - - - PROM1 chr4 16008141 16008142 AG - 10/5(0.33) 191 15 het unknown deletion chr4 rs143998754 0.10 - 0.1397 intronic PROM1 Reference - - - - - - - - PROM1 chr4 16014801 16014802 TG - 42/43(0.51) 2079 85 het unknown deletion chr4 - - - - intronic PROM1 Reference - - - - - - - - PROM1 chr4 16015044 16015048 GAGTA - 5/10(0.67) 467 15 het unknown deletion chr4 rs147239761 0.11 - 0.1201 intronic PROM1 Reference - - - - - - - - PROM1 chr4 17513499 17513499 C - 0/15(1.00) 509 15 hom unknown deletion chr4 rs3217604 0.89 - 0.4338 intronic QDPR Reference - - - - - - - - QDPR chr4 17581644 17581645 AG - 0/33(1.00) 1780 33 hom unknown deletion chr4 rs35153429 - - 0.3603 intronic LAP3 Reference - - - - - - - - LAP3 chr4 17634256 17634256 - AA 0/28(1.00) 943 28 hom unknown insertion chr4 rs142873186 - 0.477530 0.3897 intronic FAM184B Reference - - - - - - - - FAM184B chr4 20533700 20533700 - T 8/6(0.43) 107 14 het unknown insertion chr4 rs200273950 - 0.323680 0.1765 intronic SLIT2 Reference - - - - - - - - SLIT2 chr4 20535460 20535460 - TC 7/4(0.36) 179 11 het unknown insertion chr4 rs74466092 0.68 - 0.3407 intronic SLIT2 Reference - - - - - - - - SLIT2 chr4 20535557 20535557 - AC 2/3(0.60) 134 5 het unknown insertion chr4 - - - 0.0735 intronic SLIT2 Reference - - - - - - - - SLIT2 chr4 20555367 20555394 TGTGTGTGTGTGTATGTGTGTGTGTGTA - 7/15(0.68) 674 22 het unknown deletion chr4 - - - - intronic SLIT2 Reference - - - - - - - - SLIT2 chr4 20709238 20709238 - A 8/13(0.62) 488 21 het unknown insertion chr4 rs112825793 0.23 - 0.2451 intronic PACRGL Reference - - - - - - - - PACRGL chr4 20733708 20733708 - A 8/14(0.64) 531 22 het unknown insertion chr4 - 0.24 0.532438 0.2426 intronic KCNIP4 Reference - - - - - - - - KCNIP4 chr4 25157862 25157862 C - 31/31(0.50) 1158 62 het unknown deletion chr4 rs142857714 0.05 - 0.0515 intronic SEPSECS Reference - - - - - - - - SEPSECS chr4 25160732 25160732 - A 16/10(0.38) 30 26 het unknown insertion chr4 rs34423002 - - 0.1887 intronic SEPSECS Reference - - - - - - - - SEPSECS chr4 25314245 25314245 A - 1/4(0.80) 166 5 het unknown deletion chr4 rs5856894 0.32 - 0.2230 upstream ZCCHC4 Reference - - - - - - - - ZCCHC4 chr4 25315637 25315637 - T 24/24(0.50) 166 48 het unknown insertion chr4 - - - 0.2157 intronic ZCCHC4 Reference - - - - - - - - ZCCHC4 chr4 25674907 25674907 - GG 1/3(0.75) 137 4 het unknown insertion chr4 - - - 0.2843 intronic SLC34A2 Reference - - - - - - - - SLC34A2 chr4 27004490 27004490 - A 3/4(0.57) 51 7 het unknown insertion chr4 rs5856961 - - 0.3235 intronic STIM2 Reference - - - - - - - - STIM2 chr4 31031755 31031755 - TGTGTGTGTGCA 23/16(0.41) 824 39 het unknown insertion chr4 rs139430988 - - 0.3333 intronic PCDH7 Reference - - - - - - - - PCDH7 chr4 36130099 36130099 - ACAC 0/15(1.00) 864 15 hom unknown insertion chr4 - - - 0.0196 intronic ARAP2 Reference - - - - - - - - ARAP2 chr4 36130376 36130376 A - 1/23(0.96) 391 24 hom unknown deletion chr4 rs5857473 - - 0.3627 intronic ARAP2 Reference - - - - - - - - ARAP2 chr4 37850313 37850313 G - 18/6(0.25) 219 24 het unknown deletion chr4 rs35704131 0.24 0.470372 0.2574 intronic PGM2 Reference - - - - - - - - PGM2 chr4 37863046 37863046 T - 13/11(0.46) 400 24 het unknown deletion chr4 rs3832307 0.22 - 0.2132 intronic PGM2 Reference - - - - - - - - PGM2 chr4 38930985 38930985 - AA 32/26(0.45) 514 58 het unknown insertion chr4 rs35369040 - 0.133349 0.3113 intronic FAM114A1 Reference - - - - - - - - FAM114A1 chr4 38944976 38944976 - T 0/24(1.00) 1468 24 hom unknown insertion chr4 - 0.70 - 0.3529 intronic FAM114A1 Reference - - - - - - - - FAM114A1 chr4 39114945 39114945 - G 5/4(0.44) 159 9 het unknown insertion chr4 rs35969589 0.50 - 0.3015 intronic KLHL5 Reference - - - - - - - - KLHL5 chr4 39187519 39187519 - T 8/6(0.43) 276 14 het unknown insertion chr4 - - - 0.0025 intronic WDR19 Reference - - - - - - - - WDR19 chr4 39276623 39276623 - G 17/8(0.32) 388 25 het unknown insertion chr4 rs11096989 0.34 0.523656 0.2843 intronic WDR19 Reference - - - - - - - - WDR19 chr4 39457870 39457870 - G 5/9(0.64) 485 14 het unknown insertion chr4 rs3216720 0.75 - 0.3407 intronic RPL9 Reference - - - - - - - - RPL9 chr4 39515807 39515813 AAAAAGA - 0/11(1.00) 565 11 hom unknown deletion chr4 rs151116497 - 0.131690 0.2230 intronic UGDH Reference - - - - - - - - UGDH chr4 39757480 39757480 - T 0/12(1.00) 713 12 hom unknown insertion chr4 - 0.92 - 0.3505 intronic UBE2K Reference - - - - - - - - UBE2K chr4 39779234 39779234 T - 23/29(0.56) 1154 52 het unknown deletion chr4 rs3839129 0.06 - 0.0760 intronic UBE2K Reference - - - - - - - - UBE2K chr4 39910173 39910173 A - 0/39(1.00) 1102 39 hom unknown deletion chr4 rs35396203 0.67 - 0.3897 intronic PDS5A Reference - - - - - - - - PDS5A chr4 41629036 41629036 - GT 4/6(0.60) 226 10 het unknown insertion chr4 - - - 0.0588 intronic LIMCH1 Reference - - - - - - - - LIMCH1 chr4 41629036 41629036 - GTGTGT 4/6(0.60) 226 10 het unknown insertion chr4 - - - 0.0539 intronic LIMCH1 Reference - - - - - - - - LIMCH1 chr4 42592935 42592935 - A 8/26(0.76) 424 34 het unknown insertion chr4 rs3833615 - 0.586807 0.3211 intronic ATP8A1 Reference - - - - - - - - ATP8A1 chr4 44691207 44691207 A - 9/5(0.36) 141 14 het unknown deletion chr4 rs3215027 0.39 - 0.3015 intronic GUF1 Reference - - - - - - - - GUF1 chr4 46263862 46263862 - G 0/29(1.00) 1783 29 hom unknown insertion chr4 rs35496835 0.59 - 0.3431 intronic GABRA2 Reference - - - - - - - - GABRA2 chr4 46979335 46979335 - AGGG 3/3(0.50) 131 6 het unknown insertion chr4 - - - 0.1814 intronic GABRA4 Reference - - - - - - - - GABRA4 chr4 46994972 46994972 - A 28/29(0.51) 379 57 het unknown insertion chr4 - - - 0.2230 intronic GABRA4 Reference - - - - - - - - GABRA4 chr4 47033771 47033772 CG - 28/30(0.52) 1309 58 het unknown deletion chr4 rs72416056 0.56 - 0.3358 intronic GABRB1 Reference - - - - - - - - GABRB1 chr4 47562802 47562802 - C 18/7(0.28) 325 25 het unknown insertion chr4 rs34470690 - - 0.2525 intronic ATP10D Reference - - - - - - - - ATP10D chr4 47565863 47565863 A - 7/7(0.50) 78 14 het unknown deletion chr4 rs71951443 - - 0.3431 intronic ATP10D Reference - - - - - - - - ATP10D chr4 48081897 48081897 A - 2/54(0.96) 965 56 hom unknown deletion chr4 rs11358014 - - 0.2819 intronic TXK Reference - - - - - - - - TXK chr4 48178003 48178003 - AATCAGCC 0/82(1.00) 3070 82 hom unknown insertion chr4 rs11282767 - - 0.4240 intronic TEC Reference - - - - - - - - TEC chr4 52951214 52951215 TT - 1/8(0.89) 31 9 het unknown deletion chr4 rs147423128 - - 0.2353 intronic SPATA18 Reference - - - - - - - - SPATA18 chr4 54327032 54327032 - TAT 0/19(1.00) 1139 19 hom unknown insertion chr4 rs34823651 - 0.117266 0.1985 3-UTR LNX1 Reference - - - - - - - - LNX1 chr4 54876132 54876132 C - 9/20(0.69) 920 29 het unknown deletion chr4 rs68107873 0.99 - 0.2034 3-UTR CHIC2 Reference - - - - - - - - CHIC2 chr4 55151958 55151958 - A 0/21(1.00) 1279 21 hom unknown insertion chr4 - - 0.749800 0.5613 intronic PDGFRA Reference - - - - - - - - PDGFRA chr4 55598211 55598211 A - 3/3(0.50) 101 6 het unknown deletion chr4 - - - - intronic KIT Reference - - - - - - - - KIT chr4 55955737 55955737 - T 0/12(1.00) 254 12 hom unknown insertion chr4 - 0.48 - 0.2819 intronic KDR Reference - - - - - - - - KDR chr4 55962545 55962545 - G 30/45(0.60) 2425 75 het unknown insertion chr4 rs3214870 0.42 0.226402 0.3946 intronic KDR Reference - - - - - - - - KDR chr4 56291621 56291622 AA - 1/51(0.98) 2269 52 hom unknown deletion chr4 rs35154686 0.59 0.263179 0.3873 3-UTR TMEM165 Reference - - - - - - - - TMEM165 chr4 57261372 57261372 - A 13/8(0.38) 53 21 het unknown insertion chr4 - - - 0.3088 3-UTR PPAT Reference - - - - - - - - PPAT chr4 57269646 57269646 - AAAG 6/10(0.62) 519 16 het unknown insertion chr4 rs112538106 0.72 - 0.3309 intronic PPAT Reference - - - - - - - - PPAT chr4 57312435 57312436 TG - 0/61(1.00) 3070 61 hom unknown deletion chr4 rs79900552 0.24 0.065034 0.2623 intronic PAICS Reference - - - - - - - - PAICS chr4 57521973 57521980 GCTCAGCC - 20/17(0.46) 788 37 het unknown deletion chr4 rs144818228 0.36 0.477934 0.3260 intronic HOPX Reference - - - - - - - - HOPX chr4 57871748 57871748 - TT 13/14(0.52) 122 27 het unknown insertion chr4 - - - 0.2181 intronic POLR2B Reference - - - - - - - - POLR2B chr4 57887333 57887336 TGCT - 3/4(0.57) 160 7 het unknown deletion chr4 rs72035145 0.23 - 0.1471 intronic POLR2B Reference - - - - - - - - POLR2B chr4 57887339 57887339 T - 3/4(0.57) 160 7 het unknown deletion chr4 rs200608548 0.23 - 0.1471 intronic POLR2B Reference - - - - - - - - POLR2B chr4 65180312 65180316 TGTGT - 1/15(0.94) 62 16 het unknown deletion chr4 - - - 0.0368 intronic TECRL Reference - - - - - - - - TECRL chr4 65180316 65180316 T - 1/15(0.94) 62 16 het unknown deletion chr4 - - - - intronic TECRL Reference - - - - - - - - TECRL chr4 66360719 66360725 AAGAAGA - 0/21(1.00) 1110 21 hom unknown deletion chr4 rs138935035 0.92 - 0.3309 intronic EPHA5 Reference - - - - - - - - EPHA5 chr4 68424379 68424380 TG - 17/3(0.15) 66 20 het unknown deletion chr4 rs144504386 - - - upstream STAP1 Reference - - - - - - - - STAP1 chr4 68492244 68492244 - AA 3/4(0.57) 191 7 het unknown insertion chr4 rs35602179 0.16 - 0.1814 intronic UBA6 Reference - - - - - - - - UBA6 chr4 68501372 68501372 T - 19/12(0.39) 530 31 het unknown deletion chr4 rs34759035 0.09 - 0.1422 intronic UBA6 Reference - - - - - - - - UBA6 chr4 68539540 68539540 T - 3/3(0.50) 54 6 het unknown deletion chr4 rs112890671 - 0.237806 0.1912 intronic UBA6 Reference - - - - - - - - UBA6 chr4 68547809 68547809 - TAC 6/9(0.60) 482 15 het unknown insertion chr4 rs201908685 - 0.384284 0.2647 intronic UBA6 Reference - - - - - - - - UBA6 chr4 68562237 68562238 AC - 5/6(0.55) 258 11 het unknown deletion chr4 rs10573467 - - 0.2034 intronic UBA6 Reference - - - - - - - - UBA6 chr4 68566878 68566878 - G 8/7(0.47) 274 15 het unknown insertion chr4 rs71669173 0.17 0.227163 0.1422 5-UTR UBA6 Reference - - - - - - - - UBA6 chr4 68566892 68566892 G - 6/3(0.33) 32 9 het unknown deletion chr4 rs34378415 0.28 0.327263 0.1544 upstream UBA6;UBA6-AS1 Reference - - - - - - - - UBA6;UBA6-AS1 chr4 69101997 69101997 - A 7/5(0.42) 64 12 het unknown insertion chr4 - - 0.084370 0.1887 intronic TMPRSS11B Reference - - - - - - - - TMPRSS11B chr4 69964234 69964234 - T 29/14(0.33) 177 43 het unknown insertion chr4 rs113310412 - 0.410631 0.4559 intronic UGT2B7 Reference - - - - - - - - UGT2B7 chr4 70899036 70899036 - A 9/10(0.53) 506 19 het unknown insertion chr4 - - - - intronic HTN3 Reference - - - - - - - - HTN3 chr4 71024010 71024010 - ACAA 0/22(1.00) 1342 22 hom unknown insertion chr4 rs111347259 - 0.946654 0.4167 intronic C4orf40 Reference - - - - - - - - C4orf40 chr4 71472555 71472555 A - 2/3(0.60) 73 5 het unknown deletion chr4 rs142481454 0.15 - 0.1642 3-UTR AMBN Reference - - - - - - - - AMBN chr4 72433643 72433643 G - 0/20(1.00) 1062 20 hom unknown deletion chr4 rs138389345 0.56 0.144599 0.3064 3-UTR SLC4A4 Reference - - - - - - - - SLC4A4 chr4 72934578 72934578 - T 6/3(0.33) 53 9 het unknown insertion chr4 - 0.53 - 0.2892 intronic NPFFR2 Reference - - - - - - - - NPFFR2 chr4 73434380 73434380 T - 1/29(0.97) 678 30 hom unknown deletion chr4 rs5859330 - - 0.4314 intronic ADAMTS3 Reference - - - - - - - - ADAMTS3 chr4 73933674 73933677 TGTG - 6/11(0.65) 309 17 het unknown deletion chr4 - - - - intronic COX18 Reference - - - - - - - - COX18 chr4 73933672 73933677 TGTGTG - 6/11(0.65) 309 17 het unknown deletion chr4 - - - 0.1348 intronic COX18 Reference - - - - - - - - COX18 chr4 74282092 74282092 - T 5/6(0.55) 116 11 het unknown insertion chr4 rs35807836 0.38 - 0.2451 intronic ALB Reference - - - - - - - - ALB chr4 74350221 74350224 TTCA - 2/2(0.50) 44 4 het unknown deletion chr4 - - - - intronic AFM Reference - - - - - - - - AFM chr4 74464444 74464444 A - 0/12(1.00) 268 12 hom unknown deletion chr4 rs11368217 - - 0.3578 intronic RASSF6 Reference - - - - - - - - RASSF6 chr4 74703249 74703249 T - 5/5(0.50) 95 10 het unknown deletion chr4 rs145785970 - - 0.0907 intronic CXCL6 Reference - - - - - - - - CXCL6 chr4 76415703 76415703 - T 16/19(0.54) 327 35 het unknown insertion chr4 - - - 0.1520 intronic RCHY1 Reference - - - - - - - - RCHY1 chr4 76446921 76446921 - ATT 20/18(0.47) 979 38 het unknown insertion chr4 rs34598763 0.47 0.424189 0.3407 intronic THAP6 Reference - - - - - - - - THAP6 chr4 76695811 76695814 TCTC - 0/15(1.00) 785 15 hom unknown deletion chr4 rs10588680 0.83 0.491521 0.3603 intronic USO1 Reference - - - - - - - - USO1 chr4 76857149 76857149 T - 4/6(0.60) 128 10 het unknown deletion chr4 rs138725752 - - 0.2917 intronic NAAA Reference - - - - - - - - NAAA chr4 76943765 76943765 T - 0/11(1.00) 320 11 hom unknown deletion chr4 rs11298565 0.93 - 0.3382 intronic ART3;CXCL10 Reference - - - - - - - - ART3;CXCL10 chr4 76956289 76956289 - AA 0/47(1.00) 2767 47 hom unknown insertion chr4 - 0.94 0.595927 0.4755 intronic ART3;CXCL11 Reference - - - - - - - - ART3;CXCL11 chr4 77065477 77065478 AA - 2/73(0.97) 676 75 hom unknown deletion chr4 rs145851413 - - 0.2819 intronic NUP54 Reference - - - - - - - - NUP54 chr4 77083071 77083073 CAG - 10/14(0.58) 661 24 het unknown deletion chr4 rs3836573 0.61 - 0.3554 intronic SCARB2 Reference - - - - - - - - SCARB2 chr4 77091187 77091191 AGCTG - 16/17(0.52) 799 33 het unknown deletion chr4 rs113848239 0.36 0.230425 0.3186 intronic SCARB2 Reference - - - - - - - - SCARB2 chr4 77663306 77663309 TCTA - 0/38(1.00) 1947 38 hom unknown deletion chr4 rs77384874 0.23 - 0.2426 intronic SHROOM3 Reference - - - - - - - - SHROOM3 chr4 77935866 77935866 - A 3/2(0.40) 71 5 het unknown insertion chr4 - 0.31 - 0.2230 intronic SEPT11 Reference - - - - - - - - SEPT11 chr4 77949998 77950004 GGTCCAA - 39/22(0.36) 994 61 het unknown deletion chr4 rs138525047 0.40 - 0.3358 intronic SEPT11 Reference - - - - - - - - SEPT11 chr4 78085644 78085644 C - 9/12(0.57) 456 21 het unknown deletion chr4 - - - 0.0074 intronic CCNG2 Reference - - - - - - - - CCNG2 chr4 79173515 79173515 - T 36/24(0.40) 312 60 het unknown insertion chr4 rs34015316 - - 0.3701 intronic FRAS1 Reference - - - - - - - - FRAS1 chr4 79295418 79295418 - TG 14/6(0.30) 277 20 het unknown insertion chr4 rs34889042 0.35 0.394809 0.2892 intronic FRAS1 Reference - - - - - - - - FRAS1 chr4 79350200 79350200 - TGTG 15/10(0.40) 514 25 het unknown insertion chr4 rs112867538 - - 0.2108 intronic FRAS1 Reference - - - - - - - - FRAS1 chr4 79442800 79442800 T - 7/6(0.46) 58 13 het unknown deletion chr4 rs11360692 - - 0.3480 intronic FRAS1 Reference - - - - - - - - FRAS1 chr4 79754717 79754717 T - 13/7(0.35) 40 20 het unknown deletion chr4 rs112619803 - 0.231255 0.2181 intronic BMP2K Reference - - - - - - - - BMP2K chr4 79808528 79808531 GTTA - 19/15(0.44) 639 34 het unknown deletion chr4 rs138528611 0.23 - 0.2255 intronic BMP2K Reference - - - - - - - - BMP2K chr4 80990363 80990363 - ATCT 7/4(0.36) 178 11 het unknown insertion chr4 rs144240230 0.22 - 0.2181 intronic ANTXR2 Reference - - - - - - - - ANTXR2 chr4 83276430 83276430 - A 5/4(0.44) 45 9 het unknown insertion chr4 - - - 0.0637 intronic HNRNPD Reference - - - - - - - - HNRNPD chr4 83347310 83347313 AAGA - 11/10(0.48) 449 21 het unknown deletion chr4 rs34583014 0.21 0.295095 0.2304 intronic HNRNPDL Reference - - - - - - - - HNRNPDL chr4 83352177 83352177 - TT 0/30(1.00) 1846 30 hom unknown insertion chr4 rs10646358 - - 0.3946 intronic ENOPH1 Reference - - - - - - - - ENOPH1 chr4 83406549 83406549 - TGTGTG 5/4(0.44) 185 9 het unknown insertion chr4 - - - 0.1961 3-UTR TMEM150C Reference - - - - - - - - TMEM150C chr4 83793354 83793354 - TTTTG 6/6(0.50) 252 12 het unknown insertion chr4 rs143845447 - - 0.3113 intronic SEC31A Reference - - - - - - - - SEC31A chr4 83989571 83989571 - T 18/15(0.45) 281 33 het unknown insertion chr4 rs5859858 0.50 - 0.3382 intronic COPS4 Reference - - - - - - - - COPS4 chr4 84369822 84369822 - A 1/14(0.93) 140 15 hom unknown insertion chr4 rs34960937 - - 0.2745 intronic HELQ Reference - - - - - - - - HELQ chr4 84370125 84370125 A - 0/14(1.00) 236 14 hom unknown deletion chr4 rs10718573 - - 0.3627 intronic HELQ Reference - - - - - - - - HELQ chr4 84406091 84406091 - G 11/12(0.52) 569 23 het unknown insertion chr4 rs139863124 0.27 0.039355 0.1569 intronic FAM175A Reference - - - - - - - - FAM175A chr4 84509465 84509465 - G 0/91(1.00) 3070 91 hom unknown insertion chr4 rs11394944 - 0.994090 0.5466 intronic AGPAT9 Reference - - - - - - - - AGPAT9 chr4 84519776 84519776 T - 8/18(0.69) 112 26 het unknown deletion chr4 rs71668661 - 0.266672 0.2500 intronic AGPAT9 Reference - - - - - - - - AGPAT9 chr4 84525974 84525974 T - 43/45(0.51) 1181 88 het unknown deletion chr4 rs35602893 0.59 - 0.3725 3-UTR AGPAT9 Reference - - - - - - - - AGPAT9 chr4 86491548 86491549 TT - 5/6(0.55) 195 11 het unknown deletion chr4 rs150308785 - - 0.2549 intronic ARHGAP24 Reference - - - - - - - - ARHGAP24 chr4 86491584 86491584 - T 10/9(0.47) 101 19 het unknown insertion chr4 - - - 0.3235 intronic ARHGAP24 Reference - - - - - - - - ARHGAP24 chr4 86852208 86852208 T - 19/16(0.46) 738 35 het unknown deletion chr4 rs60002814 0.28 0.155726 0.2451 intronic ARHGAP24 Reference - - - - - - - - ARHGAP24 chr4 86863207 86863207 T - 4/9(0.69) 154 13 het unknown deletion chr4 rs11367691 - - 0.3946 intronic ARHGAP24 Reference - - - - - - - - ARHGAP24 chr4 87024228 87024228 - TGTG 3/6(0.67) 308 9 het unknown insertion chr4 - - - 0.0784 intronic MAPK10 Reference - - - - - - - - MAPK10 chr4 87808810 87808810 - CA 0/31(1.00) 1909 31 hom unknown insertion chr4 rs3035472 0.62 - 0.4338 intronic C4orf36 Reference - - - - - - - - C4orf36 chr4 87812587 87812587 A - 2/71(0.97) 1129 73 hom unknown deletion chr4 rs55723875 - - 0.4387 intronic C4orf36 Reference - - - - - - - - C4orf36 chr4 88231392 88231392 - A 7/3(0.30) 119 10 het unknown insertion chr4 rs72613567 0.32 0.206996 0.2451 intronic HSD17B13 Reference - - - - - - - - HSD17B13 chr4 88401736 88401737 TA - 24/20(0.45) 932 44 het unknown deletion chr4 rs34452129 0.40 - 0.3480 intronic SPARCL1 Reference - - - - - - - - SPARCL1 chr4 88532183 88532184 GT - 3/4(0.57) 171 7 het unknown deletion chr4 rs34454141 - - 0.1544 intronic DSPP Reference - - - - - - - - DSPP chr4 88813269 88813269 - C 85/76(0.47) 3070 161 het unknown insertion chr4 rs71594826 0.03 - 0.0539 intergenic MEPE;SPP1 Reference - - - - - - - - SPP1(dist=83533);MEPE(dist=45301) chr4 88813271 88813271 - ATT 84/76(0.47) 3070 160 het unknown insertion chr4 rs35753589 - - 0.0539 intergenic MEPE;SPP1 Reference - - - - - - - - SPP1(dist=83531);MEPE(dist=45303) chr4 88815163 88815163 - TTAGG 113/26(0.19) 1165 139 het unknown insertion chr4 - 0.12 - 0.2132 intergenic MEPE;SPP1 Reference - - - - - - - - SPP1(dist=81639);MEPE(dist=47195) chr4 89378760 89378760 - G 4/6(0.60) 203 10 het unknown insertion chr4 rs150387057 0.22 - 0.1422 intronic HERC5 Reference - - - - - - - - HERC5 chr4 90874095 90874095 - C 0/18(1.00) 1091 18 hom unknown insertion chr4 - 0.88 - 0.3578 intronic MMRN1 Reference - - - - - - - - MMRN1 chr4 91549157 91549157 T - 9/15(0.62) 188 24 het unknown deletion chr4 rs11303496 - - 0.3235 intronic CCSER1 Reference - - - - - - - - CCSER1 chr4 94128433 94128436 TGAG - 1/5(0.83) 218 6 het unknown deletion chr4 rs111838576 0.28 - 0.1936 intronic GRID2 Reference - - - - - - - - GRID2 chr4 95206253 95206256 TATC - 0/31(1.00) 1669 31 hom unknown deletion chr4 rs67631469 0.73 - 0.3701 intronic SMARCAD1 Reference - - - - - - - - SMARCAD1 chr4 95498618 95498619 AT - 4/3(0.43) 105 7 het unknown deletion chr4 rs66962894 - - 0.2574 intronic PDLIM5 Reference - - - - - - - - PDLIM5 chr4 95508128 95508128 G - 24/6(0.20) 197 30 het unknown deletion chr4 - - - 0.0049 intronic PDLIM5 Reference - - - - - - - - PDLIM5 chr4 99978701 99978701 T - 1/3(0.75) 88 4 het unknown deletion chr4 rs11311982 0.84 - 0.2574 intronic METAP1 Reference - - - - - - - - METAP1 chr4 100134713 100134713 - T 0/78(1.00) 3070 78 hom unknown insertion chr4 rs5860571 0.96 0.683357 0.5074 ncRNA_intronic LOC100507053 Reference - - - - - - - - LOC100507053 chr4 100445764 100445767 CTAT - 12/13(0.52) 603 25 het unknown deletion chr4 rs61598233 0.14 0.237706 0.1299 intronic C4orf17 Reference - - - - - - - - C4orf17 chr4 101401162 101401164 AAC - 0/21(1.00) 1117 21 hom nonframeshift deletion chr4 rs140053288 0.72 0.140937 0.4608 exonic EMCN Reference - - - - - - - - EMCN,NM_016242,exon2,c.97_99del,p.33_33del;EMCN,NM_001159694,exon2,c.97_99del,p.33_33del chr4 103553448 103553448 A - 0/28(1.00) 515 28 hom unknown deletion chr4 rs5860729 - - 0.3529 intronic MANBA Reference - - - - - - - - MANBA chr4 103806309 103806310 TA - 0/70(1.00) 3070 70 hom unknown deletion chr4 rs35282200 0.48 - 0.3603 3-UTR SLC9B1 Reference - - - - - - - - SLC9B1 chr4 104061846 104061848 TTA - 0/17(1.00) 896 17 hom unknown deletion chr4 rs3052340 0.27 - 0.1887 intronic CENPE Reference - - - - - - - - CENPE chr4 108581003 108581003 C - 3/9(0.75) 221 12 het unknown deletion chr4 rs11291153 0.90 - 0.3431 intronic PAPSS1 Reference - - - - - - - - PAPSS1 chr4 108608101 108608109 TCTAACACT - 10/7(0.41) 296 17 het unknown deletion chr4 rs148859271 0.91 - 0.3676 intronic PAPSS1 Reference - - - - - - - - PAPSS1 chr4 108615227 108615227 T - 17/12(0.41) 184 29 het unknown deletion chr4 rs57931480 - - 0.4387 intronic PAPSS1 Reference - - - - - - - - PAPSS1 chr4 109669320 109669320 A - 7/7(0.50) 40 14 het unknown deletion chr4 rs33958723 - - 0.3358 intronic ETNPPL Reference - - - - - - - - ETNPPL chr4 109670701 109670701 - A 8/7(0.47) 69 15 het unknown insertion chr4 - - - 0.2941 intronic ETNPPL Reference - - - - - - - - ETNPPL chr4 109767453 109767453 - A 0/89(1.00) 3070 89 hom unknown insertion chr4 rs5860952 - - 0.4069 intronic COL25A1 Reference - - - - - - - - COL25A1 chr4 109790058 109790067 AGAAAAAGAA - 14/11(0.44) 493 25 het unknown deletion chr4 rs200156087 0.10 - 0.0980 intronic COL25A1 Reference - - - - - - - - COL25A1 chr4 109895719 109895719 A - 9/6(0.40) 131 15 het unknown deletion chr4 rs70949061 0.23 0.411346 0.2157 intronic COL25A1 Reference - - - - - - - - COL25A1 chr4 110384047 110384047 - CTTTT 0/27(1.00) 1637 27 hom unknown insertion chr4 rs113411011 - - 0.4877 intronic SEC24B Reference - - - - - - - - SEC24B chr4 110581324 110581324 - T 10/19(0.66) 406 29 het unknown insertion chr4 rs34754720 - - 0.3015 intronic CCDC109B Reference - - - - - - - - CCDC109B chr4 110635488 110635488 - T 2/5(0.71) 254 7 het unknown insertion chr4 rs138645781 - 0.647021 0.3848 3-UTR PLA2G12A Reference - - - - - - - - PLA2G12A chr4 110678820 110678820 A - 6/4(0.40) 151 10 het unknown deletion chr4 rs5860990 0.31 - 0.2574 intronic CFI Reference - - - - - - - - CFI chr4 113347609 113347609 - T 24/37(0.61) 690 61 het unknown insertion chr4 - - 0.273838 0.3971 intronic ALPK1 Reference - - - - - - - - ALPK1 chr4 114176849 114176849 A - 16/13(0.45) 133 29 het unknown deletion chr4 rs34725737 - 0.143747 0.0147 intronic ANK2 Reference - - - - - - - - ANK2 chr4 114254454 114254454 - TG 3/5(0.62) 256 8 het unknown insertion chr4 - - - 0.0980 intronic ANK2 Reference - - - - - - - - ANK2 chr4 114286359 114286359 - TGTG het unknown insertion chr4 - - - - intronic ANK2 Reference - - - - - - - - ANK2 chr4 114286358 114286359 TG - 1/12(0.92) 569 13 het unknown deletion chr4 rs34201791 - - 0.3480 intronic ANK2 Reference - - - - - - - - ANK2 chr4 114426078 114426078 A - 9/9(0.50) 41 18 het unknown deletion chr4 rs5861139 - - 0.2426 intronic CAMK2D Reference - - - - - - - - CAMK2D chr4 119035948 119035948 - C 1/77(0.99) 2644 78 hom unknown insertion chr4 rs5861378 - 0.840601 0.5074 intronic NDST3 Reference - - - - - - - - NDST3 chr4 119176586 119176587 TG - 6/3(0.33) 99 9 het unknown deletion chr4 rs67438632 0.52 - 0.2377 intronic NDST3 Reference - - - - - - - - NDST3 chr4 119256617 119256617 - T 43/51(0.54) 1288 94 het unknown insertion chr4 - 0.05 0.120987 0.0539 intronic PRSS12 Reference - - - - - - - - PRSS12 chr4 119944566 119944566 - T 17/13(0.43) 333 30 het unknown insertion chr4 - 0.09 0.138636 0.0784 intronic SYNPO2 Reference - - - - - - - - SYNPO2 chr4 119947962 119947964 AAG - 0/142(1.00) 3070 142 hom nonframeshift deletion chr4 rs70944826 0.48 0.337486 0.5588 exonic SYNPO2 Reference - - - - - - - - SYNPO2,NM_133477,exon3,c.438_440del,p.146_147del;SYNPO2,NM_001128933,exon3,c.438_440del,p.146_147del;SYNPO2,NM_001128934,exon3,c.438_440del,p.146_147del chr4 120194718 120194718 - T 0/48(1.00) 1325 48 hom unknown insertion chr4 - - - 0.3971 intronic USP53 Reference - - - - - - - - USP53 chr4 120243337 120243337 A - 40/32(0.44) 1511 72 het unknown deletion chr4 rs3216176 0.63 - 0.3676 upstream FABP2 Reference - - - - - - - - FABP2 chr4 120243389 120243389 - CTACT 21/9(0.30) 435 30 het unknown insertion chr4 rs5861423 0.63 - 0.3064 upstream FABP2 Reference - - - - - - - - FABP2 chr4 120243417 120243417 - TC 7/4(0.36) 179 11 het unknown insertion chr4 - 0.64 - 0.3088 upstream FABP2 Reference - - - - - - - - FABP2 chr4 120446652 120446652 - AC 22/19(0.46) 1008 41 het unknown insertion chr4 rs141680876 0.03 - 0.0858 intronic PDE5A Reference - - - - - - - - PDE5A chr4 120446869 120446869 A - 0/65(1.00) 1253 65 hom unknown deletion chr4 rs3832310 - - 0.3922 intronic PDE5A Reference - - - - - - - - PDE5A chr4 120474687 120474687 - A 9/18(0.67) 896 27 het unknown insertion chr4 rs200145605 0.04 - 0.0882 intronic PDE5A Reference - - - - - - - - PDE5A chr4 120548074 120548074 - AAAAC 16/5(0.24) 210 21 het unknown insertion chr4 rs3839163 - - 0.2402 intronic PDE5A Reference - - - - - - - - PDE5A chr4 120550060 120550060 C - 0/26(1.00) 718 26 hom unknown deletion chr4 rs11342908 - - 0.2990 upstream PDE5A Reference - - - - - - - - PDE5A chr4 120550142 120550144 GCA - 14/10(0.42) 440 24 het unknown deletion chr4 rs140532689 0.84 - 0.1544 upstream PDE5A Reference - - - - - - - - PDE5A chr4 122590883 122590883 - A 18/17(0.49) 93 35 het unknown insertion chr4 rs71599153 - - 0.3211 intronic ANXA5 Reference - - - - - - - - ANXA5 chr4 122734662 122734665 ACTT - 2/3(0.60) 111 5 het unknown deletion chr4 rs113553388 0.02 - 0.0270 intronic EXOSC9 Reference - - - - - - - - EXOSC9 chr4 122735225 122735225 - TTA 0/18(1.00) 1006 18 hom unknown insertion chr4 rs141260260 0.86 0.776482 0.4044 intronic EXOSC9 Reference - - - - - - - - EXOSC9 chr4 122769965 122769968 TCTT - 21/14(0.40) 628 35 het unknown deletion chr4 rs111713350 0.02 0.185513 0.0270 intronic BBS7 Reference - - - - - - - - BBS7 chr4 123128687 123128687 C - 4/3(0.43) 105 7 het unknown deletion chr4 - - - 0.0025 intronic KIAA1109 Reference - - - - - - - - KIAA1109 chr4 128812230 128812230 - T 8/13(0.62) 90 21 het unknown insertion chr4 - - - 0.1618 intronic PLK4 Reference - - - - - - - - PLK4 chr4 128817906 128817906 T - 10/16(0.62) 120 26 het unknown deletion chr4 rs35646358 - 0.179313 0.2083 intronic PLK4 Reference - - - - - - - - PLK4 chr4 129043601 129043601 - G 1/36(0.97) 2137 37 hom unknown insertion chr4 rs3832282 - - 0.3162 intronic LARP1B Reference - - - - - - - - LARP1B chr4 129776983 129776983 - T 0/19(1.00) 557 19 hom unknown insertion chr4 rs150441678 0.67 0.452963 0.3627 intronic JADE1 Reference - - - - - - - - JADE1 chr4 140283103 140283103 A - 50/47(0.48) 2264 97 het unknown deletion chr4 rs3217605 0.30 0.223199 0.2255 intronic NAA15 Reference - - - - - - - - NAA15 chr4 140587260 140587261 GC - 0/27(1.00) 1359 27 hom unknown deletion chr4 rs72152182 0.74 - 0.2917 intronic MGST2 Reference - - - - - - - - MGST2 chr4 140651585 140651587 CTG - 1/59(0.98) 3070 60 hom nonframeshift deletion chr4 rs5862430 - - 0.4877 exonic MAML3 Reference - - - - - - - - MAML3,NM_018717,exon4,c.2302_2304del,p.768_768del chr4 141446510 141446510 - TAAT 0/12(1.00) 713 12 hom unknown insertion chr4 rs3833618 - - 0.2843 intronic ELMOD2 Reference - - - - - - - - ELMOD2 chr4 141677006 141677006 - G 0/25(1.00) 1452 25 hom unknown insertion chr4 rs111771715 - - 0.4191 intronic TBC1D9 Reference - - - - - - - - TBC1D9 chr4 143003155 143003155 - A 0/21(1.00) 705 21 hom unknown insertion chr4 - - 0.887877 0.4363 intronic INPP4B Reference - - - - - - - - INPP4B chr4 143181748 143181748 T - 5/7(0.58) 262 12 het unknown deletion chr4 rs66750380 0.95 0.806022 0.2868 intronic INPP4B Reference - - - - - - - - INPP4B chr4 145061823 145061823 A - 41/30(0.42) 732 71 het unknown deletion chr4 rs111499851 0.47 0.366230 0.3627 5-UTR GYPA Reference - - - - - - - - GYPA chr4 145573955 145573955 A - 0/32(1.00) 786 32 hom unknown deletion chr4 rs3215015 0.16 0.315102 0.1495 intronic HHIP Reference - - - - - - - - HHIP chr4 147177868 147177868 - C 11/10(0.48) 410 21 het unknown insertion chr4 rs113500807 - - 0.3676 intronic SLC10A7 Reference - - - - - - - - SLC10A7 chr4 147560457 147560457 - GGC 12/18(0.60) 949 30 het nonframeshift insertion chr4 - - - 0.2647 exonic POU4F2 Reference - - - - - - - - POU4F2,NM_004575,exon1,c.165_166insGGC,p.G55delinsGG chr4 148457009 148457009 - TC 22/21(0.49) 1152 43 het unknown insertion chr4 rs71594223 - 0.352180 0.2426 intronic EDNRA Reference - - - - - - - - EDNRA chr4 148827697 148827697 - A 15/17(0.53) 287 32 het unknown insertion chr4 rs71594245 - - 0.3652 intronic ARHGAP10 Reference - - - - - - - - ARHGAP10 chr4 149002017 149002017 T - 0/12(1.00) 350 12 hom unknown deletion chr4 rs10708334 - - 0.3039 3-UTR NR3C2 Reference - - - - - - - - NR3C2 chr4 151174250 151174258 TCCTCCTCA - 5/4(0.44) 154 9 het unknown deletion chr4 rs145393005 0.24 - 0.2083 intronic DCLK2 Reference - - - - - - - - DCLK2 chr4 151187011 151187011 - GAGAT 25/12(0.32) 603 37 het unknown insertion chr4 rs150278643 0.17 0.025156 0.1250 intronic LRBA Reference - - - - - - - - LRBA chr4 152025273 152025273 - CTTAT 4/3(0.43) 128 7 het unknown insertion chr4 rs3830541 0.93 - 0.3015 3-UTR RPS3A Reference - - - - - - - - RPS3A chr4 152201018 152201018 - CAGGT 10/11(0.52) 566 21 het frameshift insertion chr4 rs148861921 - 0.337870 0.2353 exonic PRSS48 Reference - - - - - - - - PRSS48,NM_183375,exon2,c.123_124insCAGGT,p.W41fs chr4 153884092 153884092 - GT 8/13(0.62) 690 21 het unknown insertion chr4 - - - 0.2206 intronic FHDC1 Reference - - - - - - - - FHDC1 chr4 154557406 154557406 T - 0/11(1.00) 208 11 hom unknown deletion chr4 rs3214684 - 0.748312 0.4265 intronic KIAA0922 Reference - - - - - - - - KIAA0922 chr4 154633581 154633581 A - 7/14(0.67) 522 21 het unknown deletion chr4 rs33952548 0.23 0.292368 0.2010 intronic RNF175 Reference - - - - - - - - RNF175 chr4 154641579 154641580 TG - 1/3(0.75) 114 4 het unknown deletion chr4 rs5863059 0.24 - 0.1691 intronic RNF175 Reference - - - - - - - - RNF175 chr4 155225785 155225792 AAACAAAC - 3/5(0.62) 212 8 het unknown deletion chr4 rs70947158 - - 0.3211 intronic DCHS2 Reference - - - - - - - - DCHS2 chr4 155244402 155244405 TTTG - 0/16(1.00) 841 16 hom frameshift deletion chr4 rs140019361 0.87 - 0.3505 exonic DCHS2 Reference - - - - - - - - DCHS2,NM_001142552,exon8,c.4095_4098del,p.1365_1366del chr4 155719920 155719920 T - 0/11(1.00) 208 11 hom unknown deletion chr4 rs33918255 - - 0.3382 intronic RBM46 Reference - - - - - - - - RBM46 chr4 156847238 156847238 G - 10/13(0.57) 496 23 het unknown deletion chr4 rs10714400 0.91 0.720927 0.4069 intronic CTSO Reference - - - - - - - - CTSO chr4 160251417 160251417 - TG 1/6(0.86) 295 7 het unknown insertion chr4 - - - 0.3137 intronic RAPGEF2 Reference - - - - - - - - RAPGEF2 chr4 162841814 162841814 - A 32/20(0.38) 364 52 het unknown insertion chr4 rs77214896 - - 0.4363 intronic FSTL5 Reference - - - - - - - - FSTL5 chr4 162954959 162954959 - T 4/4(0.50) 48 8 het unknown insertion chr4 rs113475549 0.18 - 0.1838 intronic FSTL5 Reference - - - - - - - - FSTL5 chr4 164450255 164450255 - T 9/11(0.55) 173 20 het unknown insertion chr4 rs142474335 - - 0.2721 intronic MARCH1 Reference - - - - - - - - MARCH1 chr4 164450319 164450321 AAT - 2/3(0.60) 110 5 het unknown deletion chr4 rs150105036 0.34 - 0.2402 intronic MARCH1 Reference - - - - - - - - MARCH1 chr4 166978540 166978540 T - 6/6(0.50) 255 12 het unknown deletion chr4 rs59089153 0.46 - 0.3260 intronic TLL1 Reference - - - - - - - - TLL1 chr4 169315572 169315572 A - 0/18(1.00) 795 18 hom unknown deletion chr4 rs11337868 - 0.993415 0.3627 intronic DDX60L Reference - - - - - - - - DDX60L chr4 169341609 169341628 ACACATACACACACACACAC - 3/13(0.81) 534 16 het unknown deletion chr4 rs141226900 - - 0.1961 intronic DDX60L Reference - - - - - - - - DDX60L chr4 169393972 169393972 - A 0/42(1.00) 1635 42 hom unknown insertion chr4 - 0.89 - 0.3897 intronic DDX60L Reference - - - - - - - - DDX60L chr4 169846360 169846361 CT - 0/30(1.00) 1559 30 hom unknown deletion chr4 rs66895777 0.96 - 0.4265 intronic PALLD Reference - - - - - - - - PALLD chr4 170991812 170991815 GGTT - 6/4(0.40) 151 10 het unknown deletion chr4 rs149355054 0.70 0.220286 0.3088 intronic AADAT Reference - - - - - - - - AADAT chr4 173873171 173873171 G - 0/38(1.00) 2080 38 hom unknown deletion chr4 rs11322401 - - 0.4926 intronic GALNTL6 Reference - - - - - - - - GALNTL6 chr4 175429371 175429371 T - 0/60(1.00) 2751 60 hom unknown deletion chr4 rs5864277 0.80 - 0.3897 intronic HPGD Reference - - - - - - - - HPGD chr4 175443424 175443424 - T 0/24(1.00) 1468 24 hom unknown insertion chr4 rs11433148 0.42 - 0.3309 intronic HPGD Reference - - - - - - - - HPGD chr4 177100516 177100516 T - 0/24(1.00) 580 24 hom unknown deletion chr4 rs75391699 0.29 - 0.2083 intronic WDR17 Reference - - - - - - - - WDR17 chr4 177605082 177605084 TCA - 0/98(1.00) 3070 98 hom nonframeshift deletion chr4 rs5864401 - 0.995642 0.6005 exonic VEGFC Reference - - - - - - - - VEGFC,NM_005429,exon7,c.1256_1258del,p.419_420del chr4 178256978 178256978 - A 4/5(0.56) 91 9 het splicing insertion chr4 rs147612294 0.33 0.031155 0.1838 splicing NEIL3 Reference - - - - - - - - NEIL3(NM_018248,exon3,c.413+2->A) chr4 183090227 183090227 - AC 5/3(0.38) 98 8 het unknown insertion chr4 - - - - upstream MIR1305 Reference - - - - - - - - MIR1305 chr4 183522410 183522412 TTG - 8/7(0.47) 301 15 het unknown deletion chr4 rs149533994 0.40 - 0.3015 intronic TENM3 Reference - - - - - - - - TENM3 chr4 184587658 184587658 - TACC 18/22(0.55) 1225 40 het unknown insertion chr4 rs5864850 0.51 - 0.3848 intronic TRAPPC11 Reference - - - - - - - - TRAPPC11 chr4 185075033 185075033 - T 0/11(1.00) 265 11 hom unknown insertion chr4 rs35344477 - - 0.2598 intronic ENPP6 Reference - - - - - - - - ENPP6 chr4 185583092 185583092 - TATT 0/43(1.00) 2651 43 hom unknown insertion chr4 rs60624489 - 0.942980 0.4461 intronic PRIMPOL Reference - - - - - - - - PRIMPOL chr4 185615567 185615567 - TATC 4/9(0.69) 488 13 het unknown insertion chr4 rs139656616 0.64 - 0.3480 3-UTR CENPU Reference - - - - - - - - CENPU chr4 185615909 185615909 - ATT 7/12(0.63) 659 19 het nonframeshift insertion chr4 - - - - exonic PRIMPOL Reference - - - - - - - - PRIMPOL,NM_152683,exon14,c.1659_1660insATT,p.L553delinsLI chr4 185652224 185652225 AC - 0/3(1.00) 105 3 het unknown deletion chr4 rs200616790 0.99 - 0.1887 intronic CENPU Reference - - - - - - - - CENPU chr4 185652225 185652225 C - 0/3(1.00) 105 3 het unknown deletion chr4 rs11362720 - - 0.3039 intronic CENPU Reference - - - - - - - - CENPU chr4 185686949 185686950 AC - 84/12(0.12) 337 96 het unknown deletion chr4 - - - 0.0098 intronic ACSL1 Reference - - - - - - - - ACSL1 chr4 186065844 186065844 - T 6/4(0.40) 42 10 het unknown insertion chr4 rs71591698 - - 0.3873 intronic SLC25A4 Reference - - - - - - - - SLC25A4 chr4 186320667 186320667 A - 0/19(1.00) 450 19 hom unknown deletion chr4 rs11287696 - - 0.4314 intronic ANKRD37 Reference - - - - - - - - ANKRD37 chr4 186393081 186393082 CG - 1/7(0.88) 322 8 het unknown deletion chr4 rs113125267 0.58 - 0.2623 upstream CCDC110 Reference - - - - - - - - CCDC110 chr4 186423735 186423736 CA - 8/9(0.53) 406 17 het unknown deletion chr4 rs34016200 0.26 - 0.2770 intronic PDLIM3 Reference - - - - - - - - PDLIM3 chr4 187115793 187115793 T - 22/21(0.49) 809 43 het unknown deletion chr4 rs138717663 0.07 - 0.0784 intronic CYP4V2 Reference - - - - - - - - CYP4V2 chr4 187126551 187126551 C - 35/40(0.53) 1343 75 het unknown deletion chr4 rs3216724 0.27 - 0.2279 intronic CYP4V2 Reference - - - - - - - - CYP4V2 chr4 189063361 189063361 - GT 3/3(0.50) 123 6 het unknown insertion chr4 - - - 0.0368 intronic TRIML1 Reference - - - - - - - - TRIML1 chr4 190394942 190394947 AAGAAG - 0/7(1.00) 285 7 het unknown deletion chr4 - - - - intergenic LINC01060;FRG1 Reference - - - - - - - - LINC01060(dist=871880);FRG1(dist=467027) chr4 190394939 190394947 AAGAAGAAG - 0/7(1.00) 285 7 het unknown deletion chr4 rs200986568 - - 0.0319 intergenic LINC01060;FRG1 Reference - - - - - - - - LINC01060(dist=871877);FRG1(dist=467027) chr4 190395004 190395004 - A 35/36(0.51) 1781 71 het unknown insertion chr4 - 0.06 - 0.0760 intergenic LINC01060;FRG1 Reference - - - - - - - - FRG1(dist=466970);LINC01060(dist=871942) chr4 190874018 190874021 ACTC - 4/2(0.33) 53 6 het unknown deletion chr4 rs112064663 - - 0.2230 intronic FRG1 Reference - - - - - - - - FRG1 chr4 190876360 190876360 T - 13/13(0.50) 487 26 het unknown deletion chr4 rs113152815 - - 0.0441 intronic FRG1 Reference - - - - - - - - FRG1 chr4 190878538 190878538 - T 36/89(0.71) 3070 125 het unknown insertion chr4 rs139642180 - - 0.3946 intronic FRG1 Reference - - - - - - - - FRG1 chr4 190878601 190878618 GAAGCAGGGGACATAGAA - 425/39(0.08) 864 464 het nonframeshift deletion chr4 - - - 0.0025 exonic FRG1 Reference - - - - - - - - FRG1,NM_004477,exon6,c.481_498del,p.161_166del chr4 190884225 190884225 - TTC 10/4(0.29) 169 14 het unknown insertion chr4 rs200737017 - 0.404381 0.2451 intronic FRG1 Reference - - - - - - - - FRG1 chr4 190947502 190947502 - C 83/24(0.22) 1145 107 het unknown insertion chr4 - - - 0.1936 intronic FRG2;LOC100288255 Reference - - - - - - - - LOC100288255;FRG2 chr4 190947503 190947503 - AACAAC 83/24(0.22) 1138 107 het unknown insertion chr4 - - - 0.2083 intronic FRG2;LOC100288255 Reference - - - - - - - - LOC100288255;FRG2 chr5 314145 314145 - TGTGTCCTGA 3/3(0.50) 131 6 het unknown insertion chr5 rs76623415 - - 0.1863 intronic AHRR;PDCD6 Reference - - - - - - - - PDCD6;AHRR chr5 474946 474946 G - 7/5(0.42) 145 12 het unknown deletion chr5 rs148557313 0.39 - 0.3088 intronic SLC9A3 Reference - - - - - - - - SLC9A3 chr5 479879 479879 - C 3/7(0.70) 289 10 het unknown insertion chr5 rs5865334 0.53 - 0.3554 intronic SLC9A3 Reference - - - - - - - - SLC9A3 chr5 666244 666244 - GGGCACAGGCGACTTA 12/21(0.64) 1157 33 het unknown insertion chr5 rs149807312 - - 0.2034 intronic TPPP Reference - - - - - - - - TPPP chr5 756384 756384 - T 2/9(0.82) 494 11 het unknown insertion chr5 rs147023158 - - 0.3505 intergenic TPPP;ZDHHC11 Reference - - - - - - - - TPPP(dist=62874);ZDHHC11(dist=39336) chr5 795955 795975 AGTACTATGCTCCCATTTCCG - 4/181(0.98) 3070 185 hom unknown deletion chr5 - - - 0.0319 3-UTR ZDHHC11 Reference - - - - - - - - ZDHHC11 chr5 796009 796029 GCTCCCATTTCCCAGTACTGT - 6/210(0.97) 3070 216 hom unknown deletion chr5 rs199757139 - - 0.0245 3-UTR ZDHHC11 Reference - - - - - - - - ZDHHC11 chr5 895112 895112 A - 0/18(1.00) 728 18 hom unknown deletion chr5 rs66843001 0.36 0.331017 0.2892 intronic TRIP13 Reference - - - - - - - - TRIP13 chr5 914835 914835 - GT 2/6(0.75) 314 8 het unknown insertion chr5 rs140673712 - - 0.1569 intronic TRIP13 Reference - - - - - - - - TRIP13 chr5 1035399 1035399 - AATG 0/39(1.00) 2343 39 hom unknown insertion chr5 rs147352169 - - 0.3946 intronic NKD2 Reference - - - - - - - - NKD2 chr5 1065299 1065320 AGGGGACACTGAGGAGACACAC - 1/41(0.98) 2154 42 hom unknown deletion chr5 rs55643147 - - 0.1544 intronic SLC12A7 Reference - - - - - - - - SLC12A7 chr5 1243919 1243922 CTGA - 9/9(0.50) 403 18 het unknown deletion chr5 - - - - intronic SLC6A18 Reference - - - - - - - - SLC6A18 chr5 1280941 1280948 AGCCCACC - 4/3(0.43) 105 7 het unknown deletion chr5 rs34002450 0.34 - 0.2132 intronic TERT Reference - - - - - - - - TERT chr5 1334508 1334508 A - 0/68(1.00) 1721 68 hom unknown deletion chr5 rs5865369 - - 0.4069 intronic CLPTM1L Reference - - - - - - - - CLPTM1L chr5 1481136 1481148 AGGGCCTGCACCA - 0/42(1.00) 2223 42 hom unknown deletion chr5 rs139885091 - 0.206470 0.3015 intronic LPCAT1 Reference - - - - - - - - LPCAT1 chr5 1572381 1572382 AA - 91/16(0.15) 356 107 het unknown deletion chr5 - - - 0.0245 ncRNA_exonic SDHAP3 Reference - - - - - - - - SDHAP3 chr5 1572429 1572430 AG - 92/11(0.11) 261 103 het unknown deletion chr5 - - - 0.0294 ncRNA_intronic SDHAP3 Reference - - - - - - - - SDHAP3 chr5 1801427 1801427 - A 12/12(0.50) 622 24 het unknown insertion chr5 - - - - upstream NDUFS6 Reference - - - - - - - - NDUFS6 chr5 1814396 1814399 TGTA - 25/26(0.51) 1242 51 het unknown deletion chr5 rs36074605 - - 0.3922 intronic NDUFS6 Reference - - - - - - - - NDUFS6 chr5 5186412 5186412 - GG 4/17(0.81) 700 21 het unknown insertion chr5 rs143046364 - - 0.2721 intronic ADAMTS16 Reference - - - - - - - - ADAMTS16 chr5 5232357 5232358 GG - 20/11(0.35) 310 31 het unknown deletion chr5 rs150710468 0.76 - 0.4069 intronic ADAMTS16 Reference - - - - - - - - ADAMTS16 chr5 5444343 5444343 - A 2/5(0.71) 254 7 het unknown insertion chr5 rs199600206 0.36 0.012423 0.2255 intronic KIAA0947 Reference - - - - - - - - KIAA0947 chr5 5444362 5444362 - G 4/7(0.64) 368 11 het unknown insertion chr5 rs151022183 0.36 0.017251 0.2500 intronic KIAA0947 Reference - - - - - - - - KIAA0947 chr5 9197434 9197434 - GAG 0/18(1.00) 978 18 hom unknown insertion chr5 - - 0.372145 0.3603 intronic SEMA5A Reference - - - - - - - - SEMA5A chr5 10227823 10227823 - CT 6/5(0.45) 242 11 het unknown insertion chr5 rs3080459 0.84 - 0.4020 intronic FAM173B Reference - - - - - - - - FAM173B chr5 10263454 10263454 A - 20/22(0.52) 1016 42 het unknown deletion chr5 rs147103051 - - 0.2475 intronic CCT5 Reference - - - - - - - - CCT5 chr5 10263462 10263464 GGA - 16/20(0.56) 937 36 het unknown deletion chr5 - - 0.864178 0.3824 intronic CCT5 Reference - - - - - - - - CCT5 chr5 13701618 13701618 A - 4/8(0.67) 63 12 het unknown deletion chr5 rs61338089 - - 0.2770 intronic DNAH5 Reference - - - - - - - - DNAH5 chr5 13770757 13770757 - A 6/8(0.57) 328 14 het unknown insertion chr5 - 0.44 - 0.3137 intronic DNAH5 Reference - - - - - - - - DNAH5 chr5 13810452 13810453 AT - 17/16(0.48) 744 33 het unknown deletion chr5 rs145443373 0.08 - 0.0564 intronic DNAH5 Reference - - - - - - - - DNAH5 chr5 13868104 13868104 A - 7/10(0.59) 168 17 het unknown deletion chr5 rs35398031 - 0.397860 0.2304 intronic DNAH5 Reference - - - - - - - - DNAH5 chr5 13885024 13885025 CA - 1/5(0.83) 218 6 het unknown deletion chr5 rs147685082 - - 0.3701 intronic DNAH5 Reference - - - - - - - - DNAH5 chr5 14398903 14398903 T - 5/9(0.64) 337 14 het unknown deletion chr5 rs34806703 0.09 - 0.0466 intronic TRIO Reference - - - - - - - - TRIO chr5 14871621 14871628 GGGGCGAC - 1/8(0.89) 330 9 het unknown deletion chr5 rs139106733 - - 0.0784 5-UTR ANKH Reference - - - - - - - - ANKH chr5 14871920 14871920 - CGC 3/3(0.50) 131 6 het unknown insertion chr5 - - - 0.0025 upstream ANKH Reference - - - - - - - - ANKH chr5 15616203 15616206 TCTC - 0/33(1.00) 1763 33 hom unknown deletion chr5 rs3032721 0.37 0.042233 0.3113 intronic FBXL7 Reference - - - - - - - - FBXL7 chr5 16572321 16572321 A - 15/3(0.17) 46 18 het unknown deletion chr5 - - - - intronic FAM134B Reference - - - - - - - - FAM134B chr5 16679926 16679926 - C 6/4(0.40) 169 10 het unknown insertion chr5 rs199618053 0.23 - 0.2255 intronic MYO10 Reference - - - - - - - - MYO10 chr5 16711366 16711366 A - 0/50(1.00) 1097 50 hom unknown deletion chr5 rs3214558 0.79 - 0.4902 intronic MYO10 Reference - - - - - - - - MYO10 chr5 16795028 16795028 A - 18/25(0.58) 1211 43 het unknown deletion chr5 rs35681033 0.25 - 0.2377 intronic MYO10 Reference - - - - - - - - MYO10 chr5 21751719 21751722 GTGT - 6/7(0.54) 304 13 het unknown deletion chr5 rs72173073 - - 0.2157 3-UTR CDH12 Reference - - - - - - - - CDH12 chr5 33455944 33455944 T - 8/9(0.53) 206 17 het unknown deletion chr5 rs55749081 - - 0.2941 intronic TARS Reference - - - - - - - - TARS chr5 33561029 33561029 A - 14/13(0.48) 35 27 het unknown deletion chr5 rs71834695 - - 0.3480 intronic ADAMTS12 Reference - - - - - - - - ADAMTS12 chr5 34008207 34008226 CGGCGCCACGCCCCCAGCCG - 2/3(0.60) 97 5 het unknown deletion chr5 rs3217251 0.36 - 0.2059 ncRNA_UTR5 AMACR Reference - - - - - - - - AMACR chr5 34042866 34042866 - AAC 8/4(0.33) 175 12 het unknown insertion chr5 rs112167551 - - 0.2892 ncRNA_intronic C1QTNF3-AMACR Reference - - - - - - - - C1QTNF3-AMACR chr5 34803676 34803676 C - 2/3(0.60) 111 5 het unknown deletion chr5 rs66603667 0.33 - 0.2279 intronic RAI14 Reference - - - - - - - - RAI14 chr5 34818977 34818977 T - 3/34(0.92) 560 37 hom unknown deletion chr5 rs33924590 - 0.277432 0.3407 intronic RAI14 Reference - - - - - - - - RAI14 chr5 35857308 35857308 - C 7/9(0.56) 479 16 het unknown insertion chr5 rs5867289 0.48 - 0.3137 intronic IL7R Reference - - - - - - - - IL7R chr5 36217764 36217764 - TTAATCA 16/16(0.50) 871 32 het unknown insertion chr5 rs111441491 - - 0.3578 intronic NADK2 Reference - - - - - - - - NADK2 chr5 36608727 36608727 - A 0/72(1.00) 2514 72 hom unknown insertion chr5 - 0.49 0.264335 0.4069 3-UTR SLC1A3 Reference - - - - - - - - SLC1A3 chr5 36629718 36629718 - T 9/8(0.47) 160 17 het unknown insertion chr5 rs199712940 0.06 - 0.0833 intronic SLC1A3 Reference - - - - - - - - SLC1A3 chr5 37309372 37309374 AGA - 0/14(1.00) 730 14 hom unknown deletion chr5 rs3835198 0.36 0.239978 0.3186 intronic NUP155 Reference - - - - - - - - NUP155 chr5 38370378 38370378 T - 62/41(0.40) 1915 103 het unknown deletion chr5 rs141715489 0.02 - 0.0147 intronic EGFLAM Reference - - - - - - - - EGFLAM chr5 38510482 38510482 C - 3/11(0.79) 281 14 het unknown deletion chr5 rs34968906 - - 0.3529 intronic LIFR Reference - - - - - - - - LIFR chr5 38820753 38820757 AAAGA - 22/22(0.50) 1043 44 het unknown deletion chr5 rs143325273 0.23 - 0.2206 intergenic LIFR-AS1;OSMR Reference - - - - - - - - LIFR-AS1(dist=149435);OSMR(dist=25203) chr5 38823318 38823318 - TGCA 2/10(0.83) 530 12 het unknown insertion chr5 rs142353288 - - 0.3137 intergenic LIFR-AS1;OSMR Reference - - - - - - - - OSMR(dist=22642);LIFR-AS1(dist=152000) chr5 38904164 38904164 T - 18/11(0.38) 236 29 het unknown deletion chr5 rs3214764 0.32 0.042340 0.2843 intronic OSMR Reference - - - - - - - - OSMR chr5 40777531 40777531 - TA 33/24(0.42) 1299 57 het unknown insertion chr5 rs144157386 - 0.289678 0.3627 intronic PRKAA1 Reference - - - - - - - - PRKAA1 chr5 40832843 40832843 - CTTTA 8/4(0.33) 122 12 het unknown insertion chr5 rs3840322 0.03 0.012966 0.0319 intronic RPL37 Reference - - - - - - - - RPL37 chr5 40835567 40835568 AC - 5/4(0.44) 154 9 het unknown deletion chr5 rs138180313 0.78 - 0.3676 upstream RPL37 Reference - - - - - - - - RPL37 chr5 41033931 41033931 - TATT 13/16(0.55) 714 29 het unknown insertion chr5 - - - 0.1422 intronic MROH2B Reference - - - - - - - - MROH2B chr5 42713473 42713473 G - 0/23(1.00) 1227 23 hom unknown deletion chr5 rs33972388 0.58 - 0.3431 intronic GHR Reference - - - - - - - - GHR chr5 43509462 43509462 - C 0/23(1.00) 1405 23 hom unknown insertion chr5 rs11415989 - 0.979077 0.4485 5-UTR C5orf34 Reference - - - - - - - - C5orf34 chr5 43612983 43612983 A - 13/6(0.32) 234 19 het unknown deletion chr5 rs71839404 0.10 - 0.1152 intronic NNT Reference - - - - - - - - NNT chr5 43644488 43644488 - T 8/7(0.47) 310 15 het unknown insertion chr5 - 0.10 - 0.1127 intronic NNT Reference - - - - - - - - NNT chr5 43645663 43645663 - TA 1/4(0.80) 197 5 het unknown insertion chr5 rs143796087 - - 0.0123 intronic NNT Reference - - - - - - - - NNT chr5 43652044 43652044 - AATC 14/3(0.18) 97 17 het unknown insertion chr5 rs3840358 0.10 - 0.1225 intronic NNT Reference - - - - - - - - NNT chr5 50045967 50045967 G - 22/5(0.19) 156 27 het unknown deletion chr5 rs199970985 0.44 0.650743 0.0172 intronic PARP8 Reference - - - - - - - - PARP8 chr5 52161500 52161500 - C 16/26(0.62) 1471 42 het unknown insertion chr5 rs11427012 0.63 0.464143 0.3946 intronic ITGA1 Reference - - - - - - - - ITGA1 chr5 52193414 52193414 - A 0/92(1.00) 3070 92 hom unknown insertion chr5 rs76199528 - 0.999840 0.4265 intronic ITGA1 Reference - - - - - - - - ITGA1 chr5 52954468 52954468 - T 12/6(0.33) 179 18 het unknown insertion chr5 - 0.12 0.162859 0.1225 intronic NDUFS4 Reference - - - - - - - - NDUFS4 chr5 52978777 52978780 GATT - 0/11(1.00) 565 11 hom unknown deletion chr5 rs78941945 0.74 - 0.2990 intronic NDUFS4 Reference - - - - - - - - NDUFS4 chr5 54706325 54706325 - TTTAAA 0/72(1.00) 3070 72 hom unknown insertion chr5 rs139320115 0.72 0.846603 0.3725 intronic SKIV2L2 Reference - - - - - - - - SKIV2L2 chr5 54948586 54948586 - A 4/6(0.60) 171 10 het unknown insertion chr5 - 0.44 0.534830 0.2917 intronic SLC38A9 Reference - - - - - - - - SLC38A9 chr5 54948598 54948598 - A 4/6(0.60) 238 10 het unknown insertion chr5 - 0.44 0.482350 0.2843 intronic SLC38A9 Reference - - - - - - - - SLC38A9 chr5 55528572 55528572 - AC 5/4(0.44) 163 9 het unknown insertion chr5 - - - 0.0123 intronic ANKRD55 Reference - - - - - - - - ANKRD55 chr5 55528572 55528572 - ACAC 5/4(0.44) 163 9 het unknown insertion chr5 rs142447793 - - 0.2451 intronic ANKRD55 Reference - - - - - - - - ANKRD55 chr5 56177849 56177851 CAA - 146/151(0.51) 3070 297 het nonframeshift deletion chr5 rs5868032 - - 0.4951 exonic MAP3K1 Reference - - - - - - - - MAP3K1,NM_005921,exon14,c.2822_2824del,p.941_942del chr5 56209044 56209047 TTTA - 7/17(0.71) 813 24 het unknown deletion chr5 rs138585051 0.27 - 0.2696 intronic SETD9 Reference - - - - - - - - SETD9 chr5 56246276 56246276 - AAC 21/8(0.28) 376 29 het unknown insertion chr5 rs34804097 - - 0.2966 intronic MIER3 Reference - - - - - - - - MIER3 chr5 56526820 56526820 T - 58/49(0.46) 1827 107 het unknown deletion chr5 rs3214438 0.74 0.246764 0.4265 intronic GPBP1 Reference - - - - - - - - GPBP1 chr5 58270458 58270458 A - 30/29(0.49) 282 59 het unknown deletion chr5 rs10718401 - 0.244253 0.1691 3-UTR PDE4D Reference - - - - - - - - PDE4D chr5 58271713 58271713 - A 7/5(0.42) 50 12 het unknown insertion chr5 rs112200987 - 0.581235 0.3456 intronic PDE4D Reference - - - - - - - - PDE4D chr5 58271725 58271725 - AA 6/7(0.54) 164 13 het unknown insertion chr5 - - - 0.1373 intronic PDE4D Reference - - - - - - - - PDE4D chr5 58287554 58287556 AAC - 0/11(1.00) 497 11 hom unknown deletion chr5 rs199840590 0.79 - 0.3137 intronic PDE4D Reference - - - - - - - - PDE4D chr5 64070617 64070617 - AATTATGAC 0/13(1.00) 776 13 hom unknown insertion chr5 rs140062546 0.83 0.500719 0.3358 intronic CWC27 Reference - - - - - - - - CWC27 chr5 64096047 64096047 T - 0/28(1.00) 1502 28 hom unknown deletion chr5 rs79929128 0.49 0.331497 0.3824 intronic CWC27 Reference - - - - - - - - CWC27 chr5 64847600 64847604 TTTAT - 1/4(0.80) 152 5 het unknown deletion chr5 - - - 0.0074 intronic CENPK Reference - - - - - - - - CENPK chr5 64881689 64881689 T - 3/3(0.50) 82 6 het unknown deletion chr5 rs35368186 0.41 - 0.2475 intronic PPWD1 Reference - - - - - - - - PPWD1 chr5 64960311 64960311 - TCTC 10/21(0.68) 1190 31 het unknown insertion chr5 rs3830443 - - 0.3235 intronic TRAPPC13 Reference - - - - - - - - TRAPPC13 chr5 64968171 64968171 T - 10/6(0.38) 49 16 het unknown deletion chr5 rs5868414 - 0.671219 0.2721 intronic SGTB Reference - - - - - - - - SGTB chr5 65008947 65008947 T - 15/11(0.42) 133 26 het unknown deletion chr5 rs3833969 - - 0.2500 intronic SGTB Reference - - - - - - - - SGTB chr5 65893364 65893364 G - 2/3(0.60) 85 5 het unknown deletion chr5 rs10714052 0.30 - 0.1985 intronic MAST4 Reference - - - - - - - - MAST4 chr5 66166428 66166429 AT - 23/18(0.44) 831 41 het unknown deletion chr5 rs1160971 0.56 - 0.3358 intronic MAST4 Reference - - - - - - - - MAST4 chr5 68412048 68412048 - T 0/15(1.00) 833 15 hom unknown insertion chr5 rs34215592 0.89 0.670979 0.4240 intronic SLC30A5 Reference - - - - - - - - SLC30A5 chr5 68413043 68413043 T - 0/49(1.00) 1228 49 hom unknown deletion chr5 rs3840519 - 0.375339 0.4142 intronic SLC30A5 Reference - - - - - - - - SLC30A5 chr5 68470599 68470599 - ATTA 12/9(0.43) 463 21 het unknown insertion chr5 rs3087334 0.52 - 0.3701 intronic CCNB1 Reference - - - - - - - - CCNB1 chr5 68491714 68491714 - AGTCAAG 3/4(0.57) 191 7 het unknown insertion chr5 rs11283275 0.49 - 0.2966 intronic CENPH Reference - - - - - - - - CENPH chr5 69717455 69717460 AGAATT - 0/11(1.00) 565 11 hom unknown deletion chr5 - - - 0.0074 ncRNA_intronic GTF2H2B Reference - - - - - - - - GTF2H2B chr5 70805273 70805273 C - 2/15(0.88) 510 17 het unknown deletion chr5 rs36098798 0.39 0.456750 0.2843 intronic BDP1 Reference - - - - - - - - BDP1 chr5 70892028 70892034 ATTAAGT - 16/17(0.52) 799 33 het unknown deletion chr5 rs148203893 0.52 - 0.3554 intronic MCCC2 Reference - - - - - - - - MCCC2 chr5 72185591 72185591 C - 18/3(0.14) 48 21 het unknown deletion chr5 - - - - intronic TNPO1 Reference - - - - - - - - TNPO1 chr5 72251856 72251856 G - 37/35(0.49) 1145 72 het unknown deletion chr5 rs77741060 0.03 - 0.0539 5-UTR FCHO2 Reference - - - - - - - - FCHO2 chr5 72795055 72795055 - T 5/11(0.69) 173 16 het unknown insertion chr5 rs35216563 0.53 - 0.3554 intronic BTF3 Reference - - - - - - - - BTF3 chr5 72795161 72795165 ATCTC - 15/17(0.53) 802 32 het unknown deletion chr5 rs3057009 0.54 - 0.3578 intronic BTF3 Reference - - - - - - - - BTF3 chr5 72795272 72795273 AC - 6/3(0.33) 99 9 het unknown deletion chr5 rs3057007 0.55 - 0.3137 intronic BTF3 Reference - - - - - - - - BTF3 chr5 72798504 72798505 TT - 0/21(1.00) 80 21 het unknown deletion chr5 - - - 0.0172 intronic BTF3 Reference - - - - - - - - BTF3 chr5 72798503 72798505 TTT - 0/21(1.00) 80 21 het unknown deletion chr5 rs201824290 - - 0.2206 intronic BTF3 Reference - - - - - - - - BTF3 chr5 73076475 73076475 T - 1/25(0.96) 499 26 hom unknown deletion chr5 rs35525194 - - 0.3039 intronic ARHGEF28 Reference - - - - - - - - ARHGEF28 chr5 73090165 73090165 - GTT 1/69(0.99) 3070 70 hom unknown insertion chr5 rs35221176 0.52 0.599754 0.3725 intronic ARHGEF28 Reference - - - - - - - - ARHGEF28 chr5 73153390 73153393 ACAC - 10/6(0.38) 244 16 het unknown deletion chr5 rs10543482 - - 0.0956 intronic ARHGEF28 Reference - - - - - - - - ARHGEF28 chr5 74017081 74017082 TG - 11/7(0.39) 275 18 het unknown deletion chr5 rs35491723 0.17 - 0.1495 3-UTR GFM2;HEXB Reference - - - - - - - - HEXB;GFM2 chr5 74491716 74491718 TCA - 62/44(0.42) 2072 106 het nonframeshift deletion chr5 rs10563854 0.47 0.504650 0.4118 exonic ANKRD31 Reference - - - - - - - - ANKRD31,NM_001164443,exon7,c.755_757del,p.252_253del chr5 74518317 74518317 - A 4/5(0.56) 73 9 het unknown insertion chr5 rs80190080 - - 0.2451 intronic ANKRD31 Reference - - - - - - - - ANKRD31 chr5 74526490 74526490 T - 13/30(0.70) 1227 43 het unknown deletion chr5 rs11295265 0.47 0.520363 0.3235 intronic ANKRD31 Reference - - - - - - - - ANKRD31 chr5 74954901 74954901 - G 3/6(0.67) 311 9 het unknown insertion chr5 rs5868779 0.80 - 0.3162 intronic ANKDD1B Reference - - - - - - - - ANKDD1B chr5 74962470 74962470 T - 2/3(0.60) 111 5 het unknown deletion chr5 rs55749171 - - 0.2598 intronic ANKDD1B Reference - - - - - - - - ANKDD1B chr5 75960818 75960818 - A 5/3(0.38) 72 8 het unknown insertion chr5 rs11449450 0.35 0.633312 0.2549 intronic IQGAP2 Reference - - - - - - - - IQGAP2 chr5 76607627 76607627 - T 1/20(0.95) 494 21 hom unknown insertion chr5 rs11413850 0.86 - 0.3676 intronic PDE8B Reference - - - - - - - - PDE8B chr5 76708155 76708156 GA - 16/14(0.47) 643 30 het unknown deletion chr5 rs111569967 0.11 - 0.1446 intronic PDE8B Reference - - - - - - - - PDE8B chr5 76760657 76760657 - A 27/30(0.53) 630 57 het unknown insertion chr5 - - 0.472129 0.1887 intronic WDR41 Reference - - - - - - - - WDR41 chr5 76785406 76785406 - GA 23/22(0.49) 1137 45 het unknown insertion chr5 - - - 0.0784 intronic WDR41 Reference - - - - - - - - WDR41 chr5 77524068 77524068 - A 3/35(0.92) 869 38 hom unknown insertion chr5 rs5868908 - - 0.2672 intronic AP3B1 Reference - - - - - - - - AP3B1 chr5 77745853 77745853 - A 0/20(1.00) 1216 20 hom unknown insertion chr5 rs113934564 - - 0.3676 exonic SCAMP1 Reference - - - - - - - - SCAMP1 chr5 78351582 78351583 AT - 33/20(0.38) 906 53 het unknown deletion chr5 rs3215302 0.17 0.073518 0.1471 intronic DMGDH Reference - - - - - - - - DMGDH chr5 79054469 79054472 TATG - 6/5(0.45) 203 11 het unknown deletion chr5 rs144578287 0.28 - 0.1593 intronic CMYA5 Reference - - - - - - - - CMYA5 chr5 79368049 79368051 AGA - 21/25(0.54) 1185 46 het unknown deletion chr5 rs3217460 0.27 - 0.3529 intronic THBS4 Reference - - - - - - - - THBS4 chr5 79374608 79374608 T - 2/3(0.60) 79 5 het unknown deletion chr5 rs3214550 0.39 - 0.2598 intronic THBS4 Reference - - - - - - - - THBS4 chr5 79378447 79378447 - C 11/6(0.35) 122 17 het unknown insertion chr5 rs199729484 - - 0.3039 intronic THBS4 Reference - - - - - - - - THBS4 chr5 79378784 79378797 GCGGGGCGTCCTGG - 4/4(0.50) 157 8 het unknown deletion chr5 rs11273406 0.28 - 0.2426 intronic THBS4 Reference - - - - - - - - THBS4 chr5 79473059 79473059 - T 0/32(1.00) 1870 32 hom unknown insertion chr5 rs76827953 - - 0.3848 intronic SERINC5 Reference - - - - - - - - SERINC5 chr5 80383134 80383134 - G 53/54(0.50) 3039 107 het unknown insertion chr5 - - - 0.0074 intronic RASGRF2 Reference - - - - - - - - RASGRF2 chr5 80388823 80388823 - A 27/23(0.46) 1258 50 het unknown insertion chr5 rs34991019 - 0.190415 0.1078 intronic RASGRF2 Reference - - - - - - - - RASGRF2 chr5 83433002 83433002 - AC 13/32(0.71) 1866 45 het unknown insertion chr5 - - - 0.0588 intronic EDIL3 Reference - - - - - - - - EDIL3 chr5 85582949 85582949 - TTCAA 6/5(0.45) 242 11 het unknown insertion chr5 - - - 0.3015 ncRNA_intronic NBPF22P Reference - - - - - - - - NBPF22P chr5 86667856 86667856 - A 3/30(0.91) 642 33 hom unknown insertion chr5 rs35014912 - - 0.3848 intronic RASA1 Reference - - - - - - - - RASA1 chr5 87503088 87503090 ACT - 0/19(1.00) 991 19 hom unknown deletion chr5 rs34534189 0.75 - 0.3480 intronic TMEM161B Reference - - - - - - - - TMEM161B chr5 87963272 87963272 - A 0/33(1.00) 2035 33 hom unknown insertion chr5 rs5869431 - - 0.3971 ncRNA_exonic LINC00461 Reference - - - - - - - - LINC00461 chr5 89931160 89931160 A - 21/29(0.58) 1411 50 het unknown deletion chr5 rs3838659 0.38 0.173614 0.2745 intronic GPR98 Reference - - - - - - - - GPR98 chr5 90002220 90002220 - T 2/25(0.93) 429 27 hom unknown insertion chr5 - - - 0.3309 intronic GPR98 Reference - - - - - - - - GPR98 chr5 90052263 90052263 - C 34/29(0.46) 1089 63 het unknown insertion chr5 rs34894132 0.51 0.357540 0.3309 intronic GPR98 Reference - - - - - - - - GPR98 chr5 93388785 93388785 - ATAG het unknown insertion chr5 - - - - intronic FAM172A Reference - - - - - - - - FAM172A chr5 93388778 93388785 ATAGATAG - 5/5(0.50) 239 10 het unknown deletion chr5 rs201319443 - - 0.0613 intronic FAM172A Reference - - - - - - - - FAM172A chr5 93998112 93998112 - TTA 16/14(0.47) 708 30 het unknown insertion chr5 rs10684163 0.33 0.210899 0.2794 intronic ANKRD32 Reference - - - - - - - - ANKRD32 chr5 94022492 94022495 TTAG - 5/5(0.50) 188 10 het unknown deletion chr5 rs143499611 0.32 - 0.2549 intronic ANKRD32 Reference - - - - - - - - ANKRD32 chr5 94749903 94749903 - T 58/53(0.48) 1980 111 het unknown insertion chr5 - 0.10 0.287126 0.1544 intronic FAM81B Reference - - - - - - - - FAM81B chr5 95414786 95414786 - TAAAA 2/4(0.67) 194 6 het unknown insertion chr5 rs5869706 0.47 0.607766 0.2990 upstream MIR583 Reference - - - - - - - - MIR583 chr5 95747964 95747966 CTC - 31/16(0.34) 703 47 het unknown deletion chr5 rs35364611 0.31 - 0.2598 intronic PCSK1 Reference - - - - - - - - PCSK1 chr5 96101066 96101066 - A 0/22(1.00) 1342 22 hom unknown insertion chr5 - 0.66 0.814169 0.3113 intronic CAST;ERAP1 Reference - - - - - - - - ERAP1;CAST chr5 96121370 96121370 - A 0/20(1.00) 1087 20 hom unknown insertion chr5 rs34388216 0.54 - 0.3529 intronic ERAP1 Reference - - - - - - - - ERAP1 chr5 96230883 96230883 - TT 4/5(0.56) 134 9 het unknown insertion chr5 - - - 0.2819 intronic ERAP2 Reference - - - - - - - - ERAP2 chr5 96232250 96232250 - AAA 14/4(0.22) 157 18 het unknown insertion chr5 - 0.58 0.536390 0.3652 intronic ERAP2 Reference - - - - - - - - ERAP2 chr5 96232346 96232347 AT - 1/3(0.75) 114 4 het unknown deletion chr5 rs56321917 0.58 - 0.3039 intronic ERAP2 Reference - - - - - - - - ERAP2 chr5 96332086 96332086 C - 61/53(0.46) 1564 114 het unknown deletion chr5 rs3836862 0.61 - 0.3775 intronic LNPEP Reference - - - - - - - - LNPEP chr5 96339103 96339103 C - 5/2(0.29) 49 7 het unknown deletion chr5 rs199762881 - - 0.2917 intronic LNPEP Reference - - - - - - - - LNPEP chr5 98192165 98192167 AGG - 54/50(0.48) 2409 104 het nonframeshift deletion chr5 rs138635992 0.05 0.294808 0.0760 exonic CHD1 Reference - - - - - - - - CHD1,NM_001270,exon35,c.5050_5052del,p.1684_1684del chr5 98221383 98221383 - T 4/7(0.64) 368 11 het unknown insertion chr5 - 0.06 0.376764 0.0662 intronic CHD1 Reference - - - - - - - - CHD1 chr5 101595885 101595885 - GA 0/40(1.00) 2476 40 hom unknown insertion chr5 rs148885155 0.66 - 0.3652 intronic SLCO4C1 Reference - - - - - - - - SLCO4C1 chr5 102355717 102355717 T - 5/4(0.44) 36 9 het unknown deletion chr5 rs3215069 - - 0.2598 intronic PAM Reference - - - - - - - - PAM chr5 102364542 102364542 - AT 21/11(0.34) 556 32 het unknown insertion chr5 rs2067133 - 0.755353 0.4020 intronic PAM Reference - - - - - - - - PAM chr5 107703447 107703449 AAG - 7/9(0.56) 409 16 het unknown deletion chr5 rs140305325 0.38 - 0.2745 intronic FBXL17 Reference - - - - - - - - FBXL17 chr5 108203452 108203452 T - 34/29(0.46) 201 63 het unknown deletion chr5 rs67418706 - 0.244569 0.1005 intronic FER Reference - - - - - - - - FER chr5 108691731 108691731 A - 12/12(0.50) 42 24 het unknown deletion chr5 rs199524515 - - 0.2990 intronic PJA2 Reference - - - - - - - - PJA2 chr5 109190936 109190938 CTC - 81/65(0.45) 3070 146 het nonframeshift deletion chr5 rs3217225 0.62 0.157668 0.5025 exonic MAN2A1 Reference - - - - - - - - MAN2A1,NM_002372,exon20,c.3072_3074del,p.1024_1025del chr5 110710699 110710699 - G 0/54(1.00) 2997 54 hom unknown insertion chr5 rs11385106 - - 0.4314 intronic CAMK4 Reference - - - - - - - - CAMK4 chr5 111500822 111500822 - AAA 0/17(1.00) 1028 17 hom unknown insertion chr5 - - - 0.3137 intronic EPB41L4A Reference - - - - - - - - EPB41L4A chr5 111500824 111500824 - AC 0/17(1.00) 1028 17 hom unknown insertion chr5 - - - 0.3309 intronic EPB41L4A Reference - - - - - - - - EPB41L4A chr5 111540968 111540968 - C 12/10(0.45) 407 22 het unknown insertion chr5 - 0.42 - 0.3162 intronic EPB41L4A Reference - - - - - - - - EPB41L4A chr5 112198072 112198074 AGG - 0/11(1.00) 565 11 hom unknown deletion chr5 rs112093457 0.81 - 0.3358 intronic SRP19 Reference - - - - - - - - SRP19 chr5 112237915 112237915 G - 2/3(0.60) 112 5 het unknown deletion chr5 rs141436136 0.99 - 0.1863 intronic REEP5 Reference - - - - - - - - REEP5 chr5 112346432 112346432 G - 7/7(0.50) 286 14 het unknown deletion chr5 rs58980024 0.62 - 0.2917 intronic DCP2 Reference - - - - - - - - DCP2 chr5 112384726 112384736 GTCACTGGGCA - 17/27(0.61) 1316 44 het unknown deletion chr5 rs113825892 0.25 - 0.2157 intronic MCC Reference - - - - - - - - MCC chr5 112421127 112421127 G - 9/16(0.64) 630 25 het unknown deletion chr5 - - - - intronic MCC Reference - - - - - - - - MCC chr5 112824048 112824048 - GCC 1/35(0.97) 1981 36 hom nonframeshift insertion chr5 - - - 0.2917 exonic MCC Reference - - - - - - - - MCC,NM_001085377,exon1,c.63_64insGGC,p.S22delinsGS chr5 112889567 112889569 TCT - 11/11(0.50) 501 22 het unknown deletion chr5 rs34947411 0.22 0.308216 0.1838 intronic YTHDC2 Reference - - - - - - - - YTHDC2 chr5 113698631 113698631 - GCC 14/22(0.61) 1206 36 het nonframeshift insertion chr5 rs151038013 0.86 0.318361 0.5368 exonic KCNN2 Reference - - - - - - - - KCNN2,NM_021614,exon1,c.159_160insGCC,p.A53delinsAA chr5 118513246 118513246 - TG 0/23(1.00) 1405 23 hom unknown insertion chr5 rs202028613 0.97 - 0.3578 intronic DMXL1 Reference - - - - - - - - DMXL1 chr5 118809534 118809535 CA - 0/31(1.00) 1650 31 hom unknown deletion chr5 rs10601221 - - 0.3652 intronic HSD17B4 Reference - - - - - - - - HSD17B4 chr5 118830021 118830032 TTTCTTTCTTTC - 2/3(0.60) 110 5 het unknown deletion chr5 - - - 0.0074 intronic HSD17B4 Reference - - - - - - - - HSD17B4 chr5 120021587 120021588 TT - 6/19(0.76) 769 25 het unknown deletion chr5 rs3833650 0.06 - 0.1054 intronic PRR16 Reference - - - - - - - - PRR16 chr5 122165473 122165484 ACACACACACAC - 0/5(1.00) 99 5 het unknown deletion chr5 - - - - 3-UTR SNX2 Reference - - - - - - - - SNX2 chr5 122165471 122165484 ACACACACACACAC - 0/5(1.00) 99 5 het unknown deletion chr5 rs138443824 - - 0.1593 3-UTR SNX2 Reference - - - - - - - - SNX2 chr5 122359502 122359502 - AC 3/5(0.62) 248 8 het unknown insertion chr5 - - - 0.2328 3-UTR PPIC Reference - - - - - - - - PPIC chr5 123966144 123966147 GTGT - 3/4(0.57) 157 7 het unknown deletion chr5 rs72085687 - - 0.0392 intergenic CSNK1G3;ZNF608 Reference - - - - - - - - ZNF608(dist=6463);CSNK1G3(dist=1013406) chr5 123985484 123985484 - A 2/3(0.60) 124 5 het unknown insertion chr5 rs11422549 0.70 - 0.3309 intronic ZNF608 Reference - - - - - - - - ZNF608 chr5 125759524 125759524 - CT 13/15(0.54) 796 28 het unknown insertion chr5 rs138390386 0.31 - 0.2475 intronic GRAMD3 Reference - - - - - - - - GRAMD3 chr5 125944219 125944219 - TGTTTT 0/15(1.00) 854 15 hom unknown insertion chr5 rs112502491 - 0.995088 0.3946 intronic PHAX Reference - - - - - - - - PHAX chr5 126206299 126206302 CAAA - 6/5(0.45) 190 11 het unknown deletion chr5 rs3841140 0.07 0.096246 0.1127 3-UTR MARCH3 Reference - - - - - - - - MARCH3 chr5 127522153 127522153 - T 12/16(0.57) 197 28 het unknown insertion chr5 rs112216172 - 0.534265 0.3260 intronic SLC12A2 Reference - - - - - - - - SLC12A2 chr5 127622609 127622609 - T 10/2(0.17) 50 12 het unknown insertion chr5 rs56192253 - - 0.3235 intronic FBN2 Reference - - - - - - - - FBN2 chr5 127697282 127697282 T - 2/6(0.75) 215 8 het unknown deletion chr5 rs3215047 0.04 - 0.0270 intronic FBN2 Reference - - - - - - - - FBN2 chr5 127855153 127855157 TTAAA - 27/17(0.39) 768 44 het unknown deletion chr5 rs140146961 0.20 - 0.2206 intronic FBN2 Reference - - - - - - - - FBN2 chr5 128302369 128302369 - T 7/9(0.56) 135 16 het unknown insertion chr5 - - - 0.0368 intronic SLC27A6 Reference - - - - - - - - SLC27A6 chr5 128326177 128326177 - A 1/30(0.97) 996 31 hom unknown insertion chr5 - 0.57 0.058006 0.3676 intronic SLC27A6 Reference - - - - - - - - SLC27A6 chr5 128797315 128797315 - CCCGGC 0/40(1.00) 2378 40 hom nonframeshift insertion chr5 rs142924298 0.32 0.091719 0.3284 exonic ADAMTS19 Reference - - - - - - - - ADAMTS19,NM_133638,exon2,c.594_595insCCCGGC,p.N198delinsNPG chr5 129100820 129100820 C - 5/7(0.58) 129 12 het unknown deletion chr5 rs35674869 - - 0.2745 downstream KIAA1024L Reference - - - - - - - - KIAA1024L chr5 130726600 130726610 AAAATTCTGGG - 12/9(0.43) 394 21 het unknown deletion chr5 rs147277736 0.46 - 0.2843 intronic CDC42SE2 Reference - - - - - - - - CDC42SE2 chr5 131283542 131283542 A - 7/5(0.42) 89 12 het unknown deletion chr5 rs34365565 0.49 - 0.2475 intergenic LOC728637;ACSL6 Reference - - - - - - - - ACSL6(dist=2125);LOC728637(dist=2151) chr5 131320960 131320960 T - 18/21(0.54) 1002 39 het unknown deletion chr5 rs67060241 - - 0.3627 intronic ACSL6 Reference - - - - - - - - ACSL6 chr5 131324250 131324250 - TG 75/78(0.51) 3070 153 het unknown insertion chr5 rs3043838 0.44 0.624682 0.4167 intronic ACSL6 Reference - - - - - - - - ACSL6 chr5 131326523 131326523 C - 0/22(1.00) 509 22 hom unknown deletion chr5 rs5871439 - - 0.5294 intronic ACSL6 Reference - - - - - - - - ACSL6 chr5 131553428 131553428 - A 27/23(0.46) 1258 50 het unknown insertion chr5 rs3214098 0.22 0.395527 0.2426 intronic P4HA2 Reference - - - - - - - - P4HA2 chr5 131730053 131730053 A - 0/49(1.00) 2055 49 hom unknown deletion chr5 rs60522531 0.90 - 0.4632 3-UTR SLC22A5 Reference - - - - - - - - SLC22A5 chr5 131823862 131823862 - TG 5/8(0.62) 425 13 het unknown insertion chr5 rs35829610 - - 0.2549 intronic IRF1 Reference - - - - - - - - IRF1 chr5 132096323 132096323 - AAAG 0/26(1.00) 1594 26 hom unknown insertion chr5 rs112830311 0.69 - 0.3603 intronic SEPT8 Reference - - - - - - - - SEPT8 chr5 132159465 132159465 A - 33/20(0.38) 657 53 het unknown deletion chr5 rs199802531 - - 0.0172 intronic SHROOM1 Reference - - - - - - - - SHROOM1 chr5 132209379 132209380 CT - 64/56(0.47) 2692 120 het unknown deletion chr5 rs146996609 0.13 0.013978 0.2034 5-UTR LEAP2 Reference - - - - - - - - LEAP2 chr5 132569261 132569263 CCT - 0/43(1.00) 2332 43 hom unknown deletion chr5 rs143864345 0.88 0.501677 0.5392 intronic FSTL4 Reference - - - - - - - - FSTL4 chr5 133295094 133295095 GC - 9/2(0.18) 37 11 het unknown deletion chr5 - - - - intronic C5orf15 Reference - - - - - - - - C5orf15 chr5 133657610 133657610 - A 3/61(0.95) 1597 64 hom unknown insertion chr5 rs139337657 0.24 0.392211 0.2770 intronic CDKL3 Reference - - - - - - - - CDKL3 chr5 133944044 133944044 T - 9/20(0.69) 53 29 het unknown deletion chr5 rs201249311 - - 0.2475 intronic SAR1B Reference - - - - - - - - SAR1B chr5 133984646 133984646 T - 32/40(0.56) 1926 72 het unknown deletion chr5 rs61421945 0.32 - 0.2623 5-UTR SEC24A Reference - - - - - - - - SEC24A chr5 134364407 134364412 CCGCGC - 6/3(0.33) 99 9 het unknown deletion chr5 rs145747214 0.49 - 0.2059 3-UTR PITX1 Reference - - - - - - - - PITX1 chr5 134907432 134907456 CTTTTTTTTTTTTTTTTTTTTTTTT - 12/4(0.25) 137 16 het unknown deletion chr5 - - - - 3-UTR CXCL14 Reference - - - - - - - - CXCL14 chr5 135276202 135276204 GTT - 0/36(1.00) 1945 36 hom unknown deletion chr5 rs1160982 0.78 0.694875 0.4216 exonic FBXL21 Reference - - - - - - - - FBXL21 chr5 135277394 135277394 - T 0/20(1.00) 669 20 hom unknown insertion chr5 - 0.78 - 0.4167 downstream FBXL21 Reference - - - - - - - - FBXL21 chr5 135513085 135513085 - C 0/35(1.00) 2161 35 hom unknown insertion chr5 rs55765823 - - 0.5123 exonic SMAD5 Reference - - - - - - - - SMAD5 chr5 136315201 136315201 T - 20/23(0.53) 1101 43 het unknown deletion chr5 rs3217011 0.35 0.801278 0.3676 intronic SPOCK1 Reference - - - - - - - - SPOCK1 chr5 136997777 136997777 C - 10/10(0.50) 341 20 het unknown deletion chr5 rs70979550 0.55 - 0.3480 intronic KLHL3 Reference - - - - - - - - KLHL3 chr5 136997803 136997803 - G 2/3(0.60) 113 5 het unknown insertion chr5 - - - 0.0221 intronic KLHL3 Reference - - - - - - - - KLHL3 chr5 136997803 136997803 - AG 2/3(0.60) 113 5 het unknown insertion chr5 - - - 0.1642 intronic KLHL3 Reference - - - - - - - - KLHL3 chr5 137292133 137292133 - A 1/79(0.99) 2728 80 hom unknown insertion chr5 rs3836896 0.96 0.729306 0.4216 intronic FAM13B Reference - - - - - - - - FAM13B chr5 137292395 137292395 - T 3/7(0.70) 289 10 het unknown insertion chr5 rs3836895 0.38 - 0.2059 intronic FAM13B Reference - - - - - - - - FAM13B chr5 137464887 137464887 - T 17/23(0.57) 364 40 het unknown insertion chr5 rs11428296 0.50 - 0.3431 intronic NME5 Reference - - - - - - - - NME5 chr5 137498740 137498740 - GGAAGAAAGAC 0/18(1.00) 1068 18 hom unknown insertion chr5 rs150095583 0.98 - 0.3848 intronic BRD8 Reference - - - - - - - - BRD8 chr5 137513369 137513369 - AA 23/11(0.32) 100 34 het unknown insertion chr5 - - - 0.2868 intronic BRD8 Reference - - - - - - - - BRD8 chr5 137729134 137729134 - T 7/10(0.59) 539 17 het unknown insertion chr5 - 0.54 - 0.3824 intronic KDM3B Reference - - - - - - - - KDM3B chr5 137896597 137896597 - T 0/13(1.00) 147 13 hom unknown insertion chr5 - - - 0.3113 intronic HSPA9 Reference - - - - - - - - HSPA9 chr5 137902869 137902869 A - 0/21(1.00) 436 21 hom unknown deletion chr5 rs71574426 - - 0.3897 intronic HSPA9 Reference - - - - - - - - HSPA9 chr5 137909675 137909677 AGA - 0/11(1.00) 565 11 hom unknown deletion chr5 rs141964970 0.80 - 0.3431 intronic HSPA9 Reference - - - - - - - - HSPA9 chr5 138724127 138724127 G - 0/17(1.00) 582 17 hom unknown deletion chr5 rs33937093 0.98 0.989738 0.5074 intronic MZB1 Reference - - - - - - - - MZB1 chr5 139216901 139216901 - G 0/37(1.00) 2275 37 hom unknown insertion chr5 rs11440487 - - 0.4142 intronic PSD2 Reference - - - - - - - - PSD2 chr5 139931628 139931628 - GT 1/29(0.97) 1735 30 hom frameshift insertion chr5 - - - 0.3701 exonic SRA1 Reference - - - - - - - - SRA1,NM_001035235,exon3,c.328_329insAC,p.V110fs chr5 139931629 139931629 - G 1/29(0.97) 1735 30 hom frameshift insertion chr5 - - - 0.3701 exonic SRA1 Reference - - - - - - - - SRA1,NM_001035235,exon3,c.327_328insC,p.V110fs chr5 140242452 140242452 C - 9/10(0.53) 368 19 het unknown deletion chr5 rs11321479 0.48 - 0.5196 intronic PCDHA1;PCDHA10;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA6;PCDHA7;PCDHA8;PCDHA9 Reference - - - - - - - - PCDHA7;PCDHA2;PCDHA6;PCDHA8;PCDHA10;PCDHA9;PCDHA5;PCDHA3;PCDHA1;PCDHA4 chr5 140568034 140568034 - A 0/134(1.00) 3070 134 hom unknown insertion chr5 - - 0.999920 0.5294 exonic PCDHB9 Reference - - - - - - - - PCDHB9 chr5 141022082 141022086 AATAA - 6/9(0.60) 412 15 het unknown deletion chr5 rs141662937 - - 0.0515 intronic FCHSD1 Reference - - - - - - - - FCHSD1 chr5 141052542 141052542 - T 40/44(0.52) 2478 84 het unknown insertion chr5 rs149615343 0.05 0.041054 0.0809 intronic ARAP3 Reference - - - - - - - - ARAP3 chr5 141357720 141357723 TGTA - 0/15(1.00) 785 15 hom unknown deletion chr5 rs66768569 0.98 - 0.3848 intronic RNF14 Reference - - - - - - - - RNF14 chr5 142526669 142526669 T - 11/10(0.48) 344 21 het unknown deletion chr5 rs3216968 0.05 - 0.1005 intronic ARHGAP26 Reference - - - - - - - - ARHGAP26 chr5 142601814 142601825 ACACACACACAC - 1/7(0.88) 103 8 het unknown deletion chr5 - - - - intronic ARHGAP26 Reference - - - - - - - - ARHGAP26 chr5 142601812 142601825 ACACACACACACAC - 1/7(0.88) 103 8 het unknown deletion chr5 - - - 0.0025 intronic ARHGAP26 Reference - - - - - - - - ARHGAP26 chr5 145199431 145199431 G - 15/5(0.25) 176 20 het unknown deletion chr5 rs11293460 0.46 - 0.3235 intronic PRELID2 Reference - - - - - - - - PRELID2 chr5 145199682 145199686 TTTTG - 2/3(0.60) 93 5 het unknown deletion chr5 rs139755910 0.38 - 0.1789 intronic PRELID2 Reference - - - - - - - - PRELID2 chr5 146763439 146763439 C - 23/13(0.36) 527 36 het unknown deletion chr5 rs147337779 0.18 - 0.1912 intronic STK32A Reference - - - - - - - - STK32A chr5 146773714 146773714 - A 14/8(0.36) 93 22 het unknown insertion chr5 rs35959663 0.19 - 0.2059 intronic DPYSL3 Reference - - - - - - - - DPYSL3 chr5 146780458 146780458 A - 31/25(0.45) 1172 56 het unknown deletion chr5 - - - - intronic DPYSL3 Reference - - - - - - - - DPYSL3 chr5 147019336 147019336 A - 27/17(0.39) 391 44 het unknown deletion chr5 rs79801275 - - 0.3260 ncRNA_intronic JAKMIP2-AS1 Reference - - - - - - - - JAKMIP2-AS1 chr5 147040101 147040101 - AAAC 15/13(0.46) 694 28 het unknown insertion chr5 rs139209631 - - 0.2794 ncRNA_exonic JAKMIP2-AS1 Reference - - - - - - - - JAKMIP2-AS1 chr5 147258536 147258536 T - 5/8(0.62) 128 13 het unknown deletion chr5 rs3217372 - - 0.1422 intronic SCGB3A2 Reference - - - - - - - - SCGB3A2 chr5 147478654 147478654 - T 18/8(0.31) 360 26 het unknown insertion chr5 - 0.45 - 0.3407 intronic SPINK5 Reference - - - - - - - - SPINK5 chr5 147486779 147486780 CT - 50/15(0.23) 594 65 het unknown deletion chr5 rs199582992 0.28 0.068427 0.3456 intronic SPINK5 Reference - - - - - - - - SPINK5 chr5 147585797 147585797 C - 12/8(0.40) 272 20 het unknown deletion chr5 - - - 0.1544 intronic SPINK6 Reference - - - - - - - - SPINK6 chr5 147585800 147585806 AACCACA - 0/7(1.00) 290 7 het unknown deletion chr5 - - - 0.1814 intronic SPINK6 Reference - - - - - - - - SPINK6 chr5 147585806 147585806 - T 0/12(1.00) 713 12 hom unknown insertion chr5 rs148128130 - - 0.2255 intronic SPINK6 Reference - - - - - - - - SPINK6 chr5 147695283 147695283 - TCA 34/34(0.50) 1826 68 het unknown insertion chr5 rs3217238 - 0.340789 0.2966 3-UTR SPINK7 Reference - - - - - - - - SPINK7 chr5 147856257 147856257 - A 11/11(0.50) 202 22 het unknown insertion chr5 - - - 0.3235 3-UTR HTR4 Reference - - - - - - - - HTR4 chr5 148586451 148586451 - G 0/25(1.00) 1451 25 hom unknown insertion chr5 rs5872113 - - 0.4412 intronic ABLIM3 Reference - - - - - - - - ABLIM3 chr5 148596694 148596694 G - 0/60(1.00) 2751 60 hom unknown deletion chr5 rs3839234 0.56 - 0.3971 intronic ABLIM3 Reference - - - - - - - - ABLIM3 chr5 148625973 148625973 A - 14/11(0.44) 144 25 het unknown deletion chr5 rs34340554 - - 0.3358 intronic ABLIM3 Reference - - - - - - - - ABLIM3 chr5 148977912 148977926 TCTTCTTCCTCTTCC - 8/4(0.33) 131 12 het unknown deletion chr5 - - - 0.1103 intronic ARHGEF37 Reference - - - - - - - - ARHGEF37 chr5 148999881 148999881 - C 0/21(1.00) 1279 21 hom unknown insertion chr5 rs11409449 0.85 0.515745 0.4436 intronic ARHGEF37 Reference - - - - - - - - ARHGEF37 chr5 149374880 149374880 T - 0/116(1.00) 3070 116 hom frameshift deletion chr5 rs3832324 0.54 0.568291 0.5735 exonic TIGD6 Reference - - - - - - - - TIGD6,NM_030953,exon2,c.1032delA,p.Q344fs;TIGD6,NM_001243253,exon2,c.1032delA,p.Q344fs chr5 149441017 149441017 C - 5/6(0.55) 148 11 het unknown deletion chr5 rs11286566 0.44 0.450240 0.2794 intronic CSF1R Reference - - - - - - - - CSF1R chr5 149498872 149498872 G - 9/15(0.62) 586 24 het unknown deletion chr5 rs3832325 0.10 - 0.0858 intronic PDGFRB Reference - - - - - - - - PDGFRB chr5 149584969 149584969 - G 0/65(1.00) 3070 65 hom unknown insertion chr5 rs72543480 - - 0.4828 intronic SLC6A7 Reference - - - - - - - - SLC6A7 chr5 149624902 149624922 CCTCCTCCTCCTCCTCCTCCT - 5/5(0.50) 206 10 het unknown deletion chr5 rs149294022 - - 0.0858 intronic CAMK2A Reference - - - - - - - - CAMK2A chr5 149633420 149633420 - AGC 8/7(0.47) 356 15 het unknown insertion chr5 rs139916117 0.19 - 0.2426 intronic CAMK2A Reference - - - - - - - - CAMK2A chr5 149929442 149929445 AGTT - 36/32(0.47) 1483 68 het unknown deletion chr5 rs150277646 0.17 - 0.1593 intronic NDST1 Reference - - - - - - - - NDST1 chr5 150311858 150311858 T - 0/14(1.00) 730 14 hom unknown deletion chr5 rs10719367 0.81 - 0.3627 ncRNA_splicing ZNF300P1 Reference - - - - - - - - ZNF300P1(NR_026867,exon6,c.562-2A>-) chr5 150504098 150504107 GAGAGAGAGA - 6/9(0.60) 394 15 het unknown deletion chr5 rs72392693 - - 0.2623 intronic ANXA6 Reference - - - - - - - - ANXA6 chr5 150506104 150506104 - AC 7/5(0.42) 209 12 het unknown insertion chr5 - - - 0.0809 intronic ANXA6 Reference - - - - - - - - ANXA6 chr5 150512589 150512589 - AAAAT 45/30(0.40) 1428 75 het unknown insertion chr5 rs146823252 - - 0.2402 intronic ANXA6 Reference - - - - - - - - ANXA6 chr5 150518893 150518893 C - 38/26(0.41) 929 64 het unknown deletion chr5 rs3214444 0.42 - 0.3235 intronic ANXA6 Reference - - - - - - - - ANXA6 chr5 150562697 150562697 T - 62/63(0.50) 3063 125 het unknown deletion chr5 rs60344552 0.23 - 0.2108 3-UTR CCDC69 Reference - - - - - - - - CCDC69 chr5 150567050 150567050 A - 25/22(0.47) 843 47 het unknown deletion chr5 rs35221501 0.64 0.802077 0.3750 intronic CCDC69 Reference - - - - - - - - CCDC69 chr5 150567074 150567074 - G 22/19(0.46) 1033 41 het unknown insertion chr5 rs149057913 0.53 0.630553 0.3162 intronic CCDC69 Reference - - - - - - - - CCDC69 chr5 150887184 150887184 - AGA 0/25(1.00) 1561 25 hom unknown insertion chr5 rs75548276 - 0.834190 0.5270 intronic FAT2 Reference - - - - - - - - FAT2 chr5 150916880 150916880 - AA 5/3(0.38) 125 8 het unknown insertion chr5 - - - 0.1667 intronic FAT2 Reference - - - - - - - - FAT2 chr5 150916895 150916895 A - 2/7(0.78) 232 9 het unknown deletion chr5 rs60068651 - - 0.2794 intronic FAT2 Reference - - - - - - - - FAT2 chr5 151202222 151202222 - T 7/11(0.61) 528 18 het unknown insertion chr5 - - - - 3-UTR GLRA1 Reference - - - - - - - - GLRA1 chr5 153382073 153382075 TCT - 7/5(0.42) 200 12 het unknown deletion chr5 rs35082504 0.86 - 0.3505 intronic FAM114A2 Reference - - - - - - - - FAM114A2 chr5 153414545 153414545 - A 12/13(0.52) 296 25 het unknown insertion chr5 rs79092101 0.85 - 0.3529 intronic FAM114A2 Reference - - - - - - - - FAM114A2 chr5 153432450 153432450 - T 25/34(0.58) 736 59 het unknown insertion chr5 rs11451300 - 0.625619 0.4387 intronic MFAP3 Reference - - - - - - - - MFAP3 chr5 153570668 153570668 C - 40/42(0.51) 2033 82 het unknown deletion chr5 rs113838947 0.02 - - intronic GALNT10 Reference - - - - - - - - GALNT10 chr5 153795275 153795275 A - 0/40(1.00) 1130 40 hom unknown deletion chr5 rs11321246 - - 0.4069 ncRNA_intronic SAP30L-AS1 Reference - - - - - - - - SAP30L-AS1 chr5 154065299 154065299 - G 5/4(0.44) 185 9 het unknown insertion chr5 rs11372758 0.56 0.663623 0.2770 intergenic MIR3141;LARP1 Reference - - - - - - - - LARP1(dist=27163);MIR3141(dist=89667) chr5 154065383 154065383 A - 21/9(0.30) 243 30 het unknown deletion chr5 rs33982250 0.66 0.767426 0.3088 intergenic MIR3141;LARP1 Reference - - - - - - - - MIR3141(dist=89751);LARP1(dist=27079) chr5 156475856 156475857 AC - 1/5(0.83) 218 6 het unknown deletion chr5 rs67958032 - - 0.3137 intronic HAVCR1 Reference - - - - - - - - HAVCR1 chr5 156479444 156479446 TTG - 117/105(0.47) 3070 222 het nonframeshift deletion chr5 rs79176821 0.19 - 0.2770 exonic HAVCR1 Reference - - - - - - - - HAVCR1,NM_001173393,exon4,c.599_601del,p.200_201del;HAVCR1,NM_012206,exon3,c.599_601del,p.200_201del;HAVCR1,NM_001099414,exon4,c.599_601del,p.200_201del chr5 156479558 156479572 TTGGAACAGTCGTCA - 0/111(1.00) 3070 111 het nonframeshift deletion chr5 rs141023871 - - 0.5294 exonic HAVCR1 Reference - - - - - - - - HAVCR1,NM_001173393,exon4,c.473_487del,p.158_163del;HAVCR1,NM_012206,exon3,c.473_487del,p.158_163del;HAVCR1,NM_001099414,exon4,c.473_487del,p.158_163del chr5 156479557 156479572 GTTGGAACAGTCGTCA GTTGGAACAGTCGTTGTCA het nonframeshift substitution chr5 - - - - exonic HAVCR1 Reference - - - - - - - - HAVCR1,NM_001173393,exon4,c.473_488TGACAACGACTGTTCCAAC;HAVCR1,NM_012206,exon3,c.473_488TGACAACGACTGTTCCAAC;HAVCR1,NM_001099414,exon4,c.473_488TGACAACGACTGTTCCAAC chr5 156525921 156525922 AG - 12/5(0.29) 185 17 het unknown deletion chr5 - - 0.252516 0.0074 intronic HAVCR2 Reference - - - - - - - - HAVCR2 chr5 156644775 156644775 - C 0/41(1.00) 2408 41 hom unknown insertion chr5 rs5872504 - - 0.4044 intronic ITK Reference - - - - - - - - ITK chr5 156721863 156721863 - C 0/83(1.00) 3070 83 hom frameshift insertion chr5 rs76159126 - 0.999431 0.5245 exonic CYFIP2 Reference - - - - - - - - CYFIP2,NM_014376,exon4,c.280dupC,p.I93fs;CYFIP2,NM_001037333,exon4,c.280dupC,p.I93fs;CYFIP2,NM_001037332,exon4,c.280dupC,p.I93fs chr5 156734644 156734644 - GTGTGTGTGT 1/8(0.89) 420 9 het unknown insertion chr5 rs144622623 - - 0.2696 intronic CYFIP2 Reference - - - - - - - - CYFIP2 chr5 156916037 156916037 - AAAAAGAA 0/19(1.00) 1154 19 hom unknown insertion chr5 rs10674185 0.70 - 0.3848 intronic ADAM19 Reference - - - - - - - - ADAM19 chr5 157075945 157075945 - AC het unknown insertion chr5 - - - 0.0025 intronic SOX30 Reference - - - - - - - - SOX30 chr5 157075944 157075945 AC - 0/9(1.00) 348 9 het unknown deletion chr5 rs72284585 - - 0.3725 intronic SOX30 Reference - - - - - - - - SOX30 chr5 157178593 157178593 A - 0/23(1.00) 1028 23 hom unknown deletion chr5 rs56398160 - - 0.4363 intronic LSM11 Reference - - - - - - - - LSM11 chr5 158588634 158588638 AAAAA - 11/20(0.65) 81 31 het unknown deletion chr5 rs139682876 - - 0.3652 intronic RNF145 Reference - - - - - - - - RNF145 chr5 159766380 159766380 A - 7/4(0.36) 31 11 het unknown deletion chr5 - - - 0.0147 intergenic CCNJL;C1QTNF2 Reference - - - - - - - - C1QTNF2(dist=8395);CCNJL(dist=26807) chr5 159840339 159840339 - TAC 0/12(1.00) 712 12 hom unknown insertion chr5 rs147838014 - - 0.3162 intronic SLU7 Reference - - - - - - - - SLU7 chr5 162938941 162938941 T - 0/17(1.00) 896 17 hom unknown deletion chr5 rs11307015 0.76 - 0.4412 intronic MAT2B Reference - - - - - - - - MAT2B chr5 167576513 167576513 - G 16/27(0.63) 1531 43 het unknown insertion chr5 - 0.64 - 0.4142 intronic TENM2 Reference - - - - - - - - TENM2 chr5 167858467 167858470 CTGG - 1/5(0.83) 203 6 het unknown deletion chr5 - - - - intronic WWC1 Reference - - - - - - - - WWC1 chr5 167858463 167858470 CTGGCTGG - 1/5(0.83) 203 6 het unknown deletion chr5 - - - 0.3407 intronic WWC1 Reference - - - - - - - - WWC1 chr5 167881030 167881032 GGA - 0/14(1.00) 730 14 hom nonframeshift deletion chr5 rs141712148 0.51 0.341773 0.3775 exonic WWC1 Reference - - - - - - - - WWC1,NM_001161661,exon18,c.2583_2585del,p.861_862del;WWC1,NM_001161662,exon18,c.2583_2585del,p.861_862del;WWC1,NM_015238,exon18,c.2583_2585del,p.861_862del chr5 168244506 168244506 - A 0/32(1.00) 1972 32 hom unknown insertion chr5 - 0.59 0.462380 0.4828 intronic SLIT3 Reference - - - - - - - - SLIT3 chr5 169267590 169267592 GAT - 4/4(0.50) 157 8 het unknown deletion chr5 rs72231023 - - 0.0123 intronic DOCK2 Reference - - - - - - - - DOCK2 chr5 169461229 169461229 - A 5/3(0.38) 31 8 het unknown insertion chr5 - - - 0.2721 intronic DOCK2 Reference - - - - - - - - DOCK2 chr5 169507131 169507132 TG - 110/15(0.12) 405 125 het unknown deletion chr5 rs138478687 - - 0.0221 intronic DOCK2 Reference - - - - - - - - DOCK2 chr5 169675694 169675694 T - 39/28(0.42) 1305 67 het unknown deletion chr5 rs80044664 0.45 0.493562 0.3897 3-UTR LCP2 Reference - - - - - - - - LCP2 chr5 170341327 170341328 TA - 5/8(0.62) 363 13 het unknown deletion chr5 rs34458065 0.77 - 0.3015 intronic RANBP17 Reference - - - - - - - - RANBP17 chr5 171621408 171621408 - T 7/10(0.59) 80 17 het unknown insertion chr5 - - - 0.2206 intronic EFCAB9 Reference - - - - - - - - EFCAB9 chr5 171800584 171800584 - CATC 1/3(0.75) 114 4 het unknown insertion chr5 rs10625047 - - 0.2157 intronic SH3PXD2B Reference - - - - - - - - SH3PXD2B chr5 171881221 171881221 C - 22/21(0.49) 769 43 het unknown deletion chr5 - - - - intronic SH3PXD2B Reference - - - - - - - - SH3PXD2B chr5 172342029 172342029 - T 42/44(0.51) 1958 86 het unknown insertion chr5 rs35941893 0.12 0.183986 0.1936 intronic ERGIC1 Reference - - - - - - - - ERGIC1 chr5 172585928 172585928 C - 30/41(0.58) 2010 71 het unknown deletion chr5 rs5745160 0.16 - 0.1887 intronic BNIP1 Reference - - - - - - - - BNIP1 chr5 172745270 172745271 AG - 6/6(0.50) 252 12 het unknown deletion chr5 rs71998125 - - 0.1324 intronic STC2 Reference - - - - - - - - STC2 chr5 175307293 175307293 - G 37/33(0.47) 1055 70 het unknown insertion chr5 rs150763264 0.25 - 0.2549 3-UTR CPLX2 Reference - - - - - - - - CPLX2 chr5 175811094 175811094 - GT 0/108(1.00) 3070 108 hom frameshift insertion chr5 rs78549596 - - 0.4044 exonic NOP16 Reference - - - - - - - - NOP16,NM_001256540,exon5,c.583_584insAC,p.R195fs;NOP16,NM_001256539,exon5,c.586_587insAC,p.R196fs chr5 175843462 175843462 G - 0/21(1.00) 796 21 hom unknown deletion chr5 rs33956988 0.99 - 0.3235 5-UTR CLTB Reference - - - - - - - - CLTB chr5 175933692 175933699 GTGTGTGC - 4/8(0.67) 365 12 het unknown deletion chr5 rs113700453 - - 0.3088 intronic FAF2 Reference - - - - - - - - FAF2 chr5 176004866 176004866 - GT 0/27(1.00) 1582 27 hom unknown insertion chr5 rs141749930 - - 0.4730 intronic CDHR2 Reference - - - - - - - - CDHR2 chr5 176026122 176026134 CAAAGACCCAGGA - 0/30(1.00) 1614 30 hom frameshift deletion chr5 - - - 0.2353 exonic GPRIN1 Reference - - - - - - - - GPRIN1,NM_052899,exon2,c.702_714del,p.234_238del chr5 176026136 176026146 CCTCCTTCCTC - 0/30(1.00) 1614 30 hom frameshift deletion chr5 - - - 0.2181 exonic GPRIN1 Reference - - - - - - - - GPRIN1,NM_052899,exon2,c.690_700del,p.230_234del chr5 176053337 176053338 GT - 3/4(0.57) 160 7 het unknown deletion chr5 rs5873543 - - 0.3284 intronic SNCB Reference - - - - - - - - SNCB chr5 176308870 176308870 - AG 141/116(0.45) 3070 257 het unknown insertion chr5 rs61042413 - 0.166214 0.3333 intronic HK3 Reference - - - - - - - - HK3 chr5 176338139 176338176 AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG - 44/23(0.34) 1040 67 het unknown deletion chr5 - - - 0.0368 intronic UIMC1 Reference - - - - - - - - UIMC1 chr5 176471286 176471286 - G 2/3(0.60) 66 5 het unknown insertion chr5 - 0.47 - 0.3064 intronic ZNF346 Reference - - - - - - - - ZNF346 chr5 176517136 176517136 - GT 0/9(1.00) 470 9 het unknown insertion chr5 - - - 0.0221 intronic FGFR4 Reference - - - - - - - - FGFR4 chr5 176517136 176517136 - GTGT 0/9(1.00) 470 9 het unknown insertion chr5 rs144400190 - - 0.3946 intronic FGFR4 Reference - - - - - - - - FGFR4 chr5 176639217 176639217 - A 7/9(0.56) 66 16 het unknown insertion chr5 - - - 0.3088 intronic NSD1 Reference - - - - - - - - NSD1 chr5 176831178 176831178 C - 28/29(0.51) 535 57 het unknown deletion chr5 rs35966430 0.23 - 0.2353 intronic F12 Reference - - - - - - - - F12 chr5 176930172 176930174 GAG - 0/68(1.00) 3070 68 hom nonframeshift deletion chr5 rs138153794 0.62 0.500563 0.4191 exonic DOK3 Reference - - - - - - - - DOK3,NM_001144876,exon5,c.559_561del,p.187_187del;DOK3,NM_001144875,exon6,c.865_867del,p.289_289del chr5 177309736 177309736 T - 28/8(0.22) 225 36 het unknown deletion chr5 - - - 0.1152 ncRNA_exonic LOC728554 Reference - - - - - - - - LOC728554 chr5 177636991 177636991 T - 11/14(0.56) 537 25 het unknown deletion chr5 rs111881090 0.44 - 0.3824 intronic HNRNPAB;PHYKPL Reference - - - - - - - - PHYKPL;HNRNPAB chr5 177658626 177658626 G - 13/12(0.48) 281 25 het unknown deletion chr5 rs3833653 0.17 - 0.1765 intronic PHYKPL Reference - - - - - - - - PHYKPL chr5 178419279 178419279 - GGCAAGGTCT 0/54(1.00) 3070 54 hom unknown insertion chr5 rs11283410 0.97 - 0.5270 intronic GRM6 Reference - - - - - - - - GRM6 chr5 178419396 178419396 - C 1/60(0.98) 2560 61 hom unknown insertion chr5 rs74329491 - - 0.4828 intronic GRM6 Reference - - - - - - - - GRM6 chr5 179021785 179021786 GC - 30/4(0.12) 92 34 het unknown deletion chr5 - - - - intronic RUFY1 Reference - - - - - - - - RUFY1 chr5 179442525 179442525 G - 6/3(0.33) 63 9 het unknown deletion chr5 rs66797381 - - 0.3088 intronic RNF130 Reference - - - - - - - - RNF130 chr5 179734146 179734158 TGGGGGTGGGGGC - 0/16(1.00) 841 16 hom unknown deletion chr5 rs72363427 0.41 0.416616 0.2794 intronic GFPT2 Reference - - - - - - - - GFPT2 chr5 179780341 179780341 T - 0/11(1.00) 565 11 hom unknown deletion chr5 rs5873687 0.98 - 0.2794 upstream GFPT2 Reference - - - - - - - - GFPT2 chr5 180001167 180001198 AGTCAACGGCATCCACCTTCCTGGCAGGAGGT - 72/53(0.42) 2470 125 het frameshift deletion chr5 - - - - exonic CNOT6 Reference - - - - - - - - CNOT6,NM_015455,exon12,c.1641_1672del,p.547_558del chr5 180038248 180038248 - C 78/76(0.49) 3070 154 het unknown insertion chr5 rs71593406 0.51 - 0.3701 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180045700 180045700 - GGTTACCCTA 15/6(0.29) 272 21 het unknown insertion chr5 rs3214903 - - 0.3309 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180046426 180046426 - TGGCCGCTTAGCTAAGGCACAG 15/11(0.42) 576 26 het unknown insertion chr5 rs70973949 - 0.593810 0.1936 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180046493 180046494 AG - 25/22(0.47) 1034 47 het unknown deletion chr5 rs67637889 - 0.654702 0.4044 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180049927 180049928 CA - 1/4(0.80) 166 5 het unknown deletion chr5 rs113248876 - - 0.3088 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180052832 180052850 GGCTGTGCAGGGGACCTGA - 9/4(0.31) 144 13 het unknown deletion chr5 rs144453562 - 0.053926 0.1201 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180058913 180058913 G - 5/5(0.50) 206 10 het unknown deletion chr5 - - - 0.2059 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180058915 180058928 GTGGCCTGGCCTCA - 5/5(0.50) 206 10 het unknown deletion chr5 - - - 0.1814 intronic FLT4 Reference - - - - - - - - FLT4 chr5 180472420 180472420 C - 35/22(0.39) 674 57 het unknown deletion chr5 rs76366126 0.15 - 0.1176 intronic BTNL9 Reference - - - - - - - - BTNL9 chr5 180583072 180583075 TTTG - 14/7(0.33) 274 21 het unknown deletion chr5 rs148539777 - - 0.1814 downstream OR2V2 Reference - - - - - - - - OR2V2 chr5 180583098 180583098 C - 10/4(0.29) 139 14 het unknown deletion chr5 - - - 0.0221 downstream OR2V2 Reference - - - - - - - - OR2V2 chr6 312030 312033 AATG - 40/12(0.23) 469 52 het unknown deletion chr6 rs150517961 - - 0.4583 intronic DUSP22 Reference - - - - - - - - DUSP22 chr6 346429 346429 - ACACAC 9/20(0.69) 231 29 het unknown insertion chr6 - - - 0.0882 intronic DUSP22 Reference - - - - - - - - DUSP22 chr6 346429 346429 - ACACACAC 9/20(0.69) 231 29 het unknown insertion chr6 - - - 0.1446 intronic DUSP22 Reference - - - - - - - - DUSP22 chr6 350940 350940 - A 43/15(0.26) 729 58 het unknown insertion chr6 - - 0.482508 0.4142 3-UTR DUSP22 Reference - - - - - - - - DUSP22 chr6 393838 393839 TC - 1/3(0.75) 114 4 het unknown deletion chr6 rs34553882 0.22 - 0.1324 intronic IRF4 Reference - - - - - - - - IRF4 chr6 396883 396899 CTCCTGCACTCCTTTAC - 18/11(0.38) 482 29 het unknown deletion chr6 rs201247125 - - 0.0294 intronic IRF4 Reference - - - - - - - - IRF4 chr6 396935 396951 CTCCTGCACTCCTTTAC - 16/8(0.33) 332 24 het unknown deletion chr6 - - - 0.0466 intronic IRF4 Reference - - - - - - - - IRF4 chr6 397039 397055 CTCCTGCACTCCTTTAC - 86/31(0.26) 1339 117 het unknown deletion chr6 rs72137082 - - 0.3971 intronic IRF4 Reference - - - - - - - - IRF4 chr6 2675432 2675432 - C 0/11(1.00) 615 11 hom unknown insertion chr6 - 0.43 - 0.3407 intronic MYLK4 Reference - - - - - - - - MYLK4 chr6 2966558 2966558 - T 0/11(1.00) 265 11 hom unknown insertion chr6 - 0.45 - 0.2868 intronic SERPINB6 Reference - - - - - - - - SERPINB6 chr6 3012726 3012726 G - 28/26(0.48) 959 54 het unknown deletion chr6 rs11351160 0.53 - 0.4461 intronic NQO2 Reference - - - - - - - - NQO2 chr6 3023329 3023329 - CCG 3/3(0.50) 131 6 het unknown insertion chr6 - 0.35 - 0.2083 ncRNA_exonic HTATSF1P2 Reference - - - - - - - - HTATSF1P2 chr6 4734882 4734882 - GTGAGGG 2/3(0.60) 134 5 het unknown insertion chr6 rs71311001 - - 0.2279 intergenic LOC100507506;CDYL Reference - - - - - - - - LOC100507506(dist=577263);CDYL(dist=41798) chr6 4937728 4937728 - A 14/10(0.42) 108 24 het unknown insertion chr6 rs36001374 - - 0.3015 intronic CDYL Reference - - - - - - - - CDYL chr6 4937742 4937742 - T 18/15(0.45) 708 33 het unknown insertion chr6 rs140993639 0.70 - 0.3407 intronic CDYL Reference - - - - - - - - CDYL chr6 6318921 6318921 - A 4/14(0.78) 294 18 hom unknown insertion chr6 - - - 0.3235 intronic F13A1 Reference - - - - - - - - F13A1 chr6 6589192 6589192 - GA 6/5(0.45) 242 11 het unknown insertion chr6 rs112924538 - - 0.3064 ncRNA_intronic LY86-AS1 Reference - - - - - - - - LY86-AS1 chr6 6649974 6649974 - AGG 3/3(0.50) 131 6 het unknown insertion chr6 rs5874047 0.66 0.766939 0.3113 intronic LY86 Reference - - - - - - - - LY86 chr6 7289958 7289959 CA - 20/16(0.44) 735 36 het unknown deletion chr6 rs16740 0.44 - 0.3382 3-UTR SSR1 Reference - - - - - - - - SSR1 chr6 7385892 7385893 TT - 6/7(0.54) 152 13 het unknown deletion chr6 rs147220799 - - 0.2941 intronic CAGE1 Reference - - - - - - - - CAGE1 chr6 7387433 7387433 - A 5/4(0.44) 32 9 het unknown insertion chr6 rs35613760 0.45 - 0.2917 intronic CAGE1 Reference - - - - - - - - CAGE1 chr6 7397125 7397125 - GTGT 1/4(0.80) 165 5 het unknown insertion chr6 rs150425917 - - 0.1642 intronic RIOK1 Reference - - - - - - - - RIOK1 chr6 7401383 7401386 AAAC - 4/3(0.43) 105 7 het unknown deletion chr6 rs147185967 0.44 - 0.2917 intronic RIOK1 Reference - - - - - - - - RIOK1 chr6 7565490 7565490 - T 7/5(0.42) 48 12 het unknown insertion chr6 rs35266991 - - 0.0662 intronic DSP Reference - - - - - - - - DSP chr6 9900599 9900599 - GAG 23/13(0.36) 669 36 het unknown insertion chr6 rs112038050 0.31 0.232588 0.3137 intergenic LOC100506207;TFAP2A Reference - - - - - - - - TFAP2A(dist=496317);LOC100506207(dist=1114921) chr6 10401035 10401037 AAG - 1/108(0.99) 3070 109 hom unknown deletion chr6 rs145517441 0.27 - 0.2304 intronic TFAP2A Reference - - - - - - - - TFAP2A chr6 10402438 10402438 - AG 0/43(1.00) 2665 43 hom unknown insertion chr6 rs111396056 0.30 - 0.2623 intronic TFAP2A Reference - - - - - - - - TFAP2A chr6 10405026 10405026 C - 0/32(1.00) 1447 32 hom unknown deletion chr6 rs138809786 0.27 - 0.2402 intronic TFAP2A Reference - - - - - - - - TFAP2A chr6 10785011 10785011 - CAGA 0/103(1.00) 3070 103 hom unknown insertion chr6 - - - 0.3725 intronic MAK Reference - - - - - - - - MAK chr6 10785228 10785230 AAG - 23/14(0.38) 622 37 het unknown deletion chr6 rs70991044 0.49 - 0.3186 intronic MAK Reference - - - - - - - - MAK chr6 10958997 10958999 TTA - 32/13(0.29) 544 45 het unknown deletion chr6 rs141480785 0.21 0.071354 0.1961 intronic SYCP2L Reference - - - - - - - - SYCP2L chr6 11192522 11192522 - T 0/20(1.00) 1216 20 hom unknown insertion chr6 rs5874310 0.96 - 0.3971 intronic NEDD9 Reference - - - - - - - - NEDD9 chr6 11232588 11232588 - C 0/28(1.00) 1720 28 hom unknown insertion chr6 rs144354844 0.24 - 0.2623 intronic NEDD9 Reference - - - - - - - - NEDD9 chr6 11714894 11714894 - A 3/10(0.77) 323 13 het unknown insertion chr6 rs80355771 0.47 - 0.2990 intronic ADTRP Reference - - - - - - - - ADTRP chr6 11735981 11735982 TC - 11/7(0.39) 293 18 het unknown deletion chr6 rs3830755 0.47 - 0.3750 intronic ADTRP Reference - - - - - - - - ADTRP chr6 13295753 13295753 G - 5/5(0.50) 114 10 het unknown deletion chr6 rs35194435 - - 0.2990 5-UTR LOC100130357 Reference - - - - - - - - LOC100130357 chr6 13807027 13807030 AATT - 2/3(0.60) 111 5 het unknown deletion chr6 rs149103734 0.24 - 0.1740 intronic MCUR1 Reference - - - - - - - - MCUR1 chr6 15246276 15246278 GCC - 18/3(0.14) 64 21 het unknown deletion chr6 - - - - 5-UTR JARID2 Reference - - - - - - - - JARID2 chr6 15468723 15468729 GGGTGAG - 1/7(0.88) 322 8 het unknown deletion chr6 rs147212247 - 0.380576 0.3529 intronic JARID2 Reference - - - - - - - - JARID2 chr6 15511429 15511429 - CCAT 0/14(1.00) 839 14 hom unknown insertion chr6 rs55742636 - - 0.3775 intronic JARID2 Reference - - - - - - - - JARID2 chr6 15513400 15513401 GT - 0/11(1.00) 565 11 hom unknown deletion chr6 rs34554301 0.66 - 0.3824 intronic JARID2 Reference - - - - - - - - JARID2 chr6 16327871 16327876 TGCTGC - 2/14(0.88) 234 16 het nonframeshift deletion chr6 - - - - exonic ATXN1 Reference - - - - - - - - ATXN1,NM_001128164,exon7,c.666_671del,p.222_224del;ATXN1,NM_000332,exon8,c.666_671del,p.222_224del chr6 16327865 16327876 TGCTGCTGCTGC - 2/14(0.88) 234 16 het nonframeshift deletion chr6 - - 0.030760 0.0441 exonic ATXN1 Reference - - - - - - - - ATXN1,NM_001128164,exon7,c.666_677del,p.222_226del;ATXN1,NM_000332,exon8,c.666_677del,p.222_226del chr6 16327913 16327915 TGA - 9/19(0.68) 742 28 het nonframeshift deletion chr6 - - 0.105640 0.1740 exonic ATXN1 Reference - - - - - - - - ATXN1,NM_001128164,exon7,c.627_629del,p.209_210del;ATXN1,NM_000332,exon8,c.627_629del,p.209_210del chr6 16753375 16753376 AC - 8/7(0.47) 301 15 het unknown deletion chr6 rs71706080 - - 0.3603 intronic ATXN1 Reference - - - - - - - - ATXN1 chr6 17616513 17616513 - G 2/3(0.60) 40 5 het unknown insertion chr6 - 0.58 - 0.2770 intronic NUP153 Reference - - - - - - - - NUP153 chr6 17787886 17787886 - AACAAA 7/10(0.59) 485 17 het unknown insertion chr6 rs148516660 - - 0.1716 intronic KIF13A Reference - - - - - - - - KIF13A chr6 18139965 18139965 A - 0/11(1.00) 241 11 hom unknown deletion chr6 rs78425561 - - 0.3162 intronic TPMT Reference - - - - - - - - TPMT chr6 20153059 20153063 TTTGT - 0/13(1.00) 675 13 hom unknown deletion chr6 rs144811848 - - 0.3505 intronic MBOAT1 Reference - - - - - - - - MBOAT1 chr6 20758809 20758809 T - 17/18(0.51) 111 35 het unknown deletion chr6 rs34291318 - - 0.3431 intronic CDKAL1 Reference - - - - - - - - CDKAL1 chr6 24445749 24445750 CA - 0/13(1.00) 675 13 hom unknown deletion chr6 rs60474145 0.45 0.071565 0.3309 intronic GPLD1 Reference - - - - - - - - GPLD1 chr6 24450168 24450168 - CCT 0/45(1.00) 2791 45 hom unknown insertion chr6 rs5874981 0.60 0.326570 0.3995 intronic GPLD1 Reference - - - - - - - - GPLD1 chr6 24467061 24467061 A - 18/6(0.25) 156 24 het unknown deletion chr6 rs35276216 0.17 0.310623 0.1912 intronic GPLD1 Reference - - - - - - - - GPLD1 chr6 24480026 24480027 AT - 3/4(0.57) 145 7 het unknown deletion chr6 rs5874986 0.28 - 0.2279 intronic GPLD1 Reference - - - - - - - - GPLD1 chr6 24580185 24580185 - A 1/83(0.99) 2534 84 hom unknown insertion chr6 - - 0.166374 0.3456 intronic KIAA0319 Reference - - - - - - - - KIAA0319 chr6 24666320 24666320 - A 20/29(0.59) 625 49 het unknown insertion chr6 rs11456603 0.08 - 0.1324 intronic TDP2 Reference - - - - - - - - TDP2 chr6 24667205 24667205 - CC 14/19(0.58) 1057 33 het unknown insertion chr6 - 0.86 - 0.4657 upstream ACOT13;TDP2 Reference - - - - - - - - TDP2;ACOT13 chr6 24828566 24828566 - CATT 0/31(1.00) 1860 31 hom unknown insertion chr6 rs142564211 - - 0.3137 intronic FAM65B Reference - - - - - - - - FAM65B chr6 25108990 25108990 C - 0/32(1.00) 1387 32 hom unknown deletion chr6 rs3215685 0.84 - 0.3946 ncRNA_intronic CMAHP Reference - - - - - - - - CMAHP chr6 25435655 25435655 T - 33/42(0.56) 1690 75 het unknown deletion chr6 rs34314506 0.19 - 0.2353 intronic LRRC16A Reference - - - - - - - - LRRC16A chr6 25557148 25557148 - A 21/3(0.12) 73 24 het unknown insertion chr6 - - - 0.0490 intronic LRRC16A Reference - - - - - - - - LRRC16A chr6 25557149 25557149 - AA 9/15(0.62) 688 24 het unknown insertion chr6 rs202004033 - - 0.2475 intronic LRRC16A Reference - - - - - - - - LRRC16A chr6 25652569 25652569 G - 30/27(0.47) 1046 57 het unknown deletion chr6 rs3215471 0.26 - 0.2647 5-UTR SCGN Reference - - - - - - - - SCGN chr6 25653566 25653566 - A 4/6(0.60) 308 10 het unknown insertion chr6 rs34327841 0.26 0.298255 0.1789 intronic SCGN Reference - - - - - - - - SCGN chr6 25689379 25689379 T - 5/52(0.91) 618 57 hom unknown deletion chr6 rs11327870 - - 0.3995 intronic SCGN Reference - - - - - - - - SCGN chr6 25726329 25726329 - TT 0/78(1.00) 3070 78 hom unknown insertion chr6 rs112943240 0.72 - 0.4338 3-UTR HIST1H2AA Reference - - - - - - - - HIST1H2AA chr6 26033809 26033809 - AAG 61/41(0.40) 2233 102 het unknown insertion chr6 rs3842706 0.90 0.763898 0.5343 upstream HIST1H2AB Reference - - - - - - - - HIST1H2AB chr6 26501472 26501472 G - 0/20(1.00) 813 20 hom unknown deletion chr6 rs3215660 0.72 0.486981 0.4314 upstream BTN1A1 Reference - - - - - - - - BTN1A1 chr6 29574595 29574595 - C 26/17(0.40) 901 43 het unknown insertion chr6 rs36073154 0.24 - 0.0735 intronic GABBR1 Reference - - - - - - - - GABBR1 chr6 29694044 29694044 - G 30/21(0.41) 556 51 het unknown insertion chr6 rs3835204 0.27 0.167754 0.0515 intronic HLA-F Reference - - - - - - - - HLA-F chr6 29695977 29695977 A - 1/3(0.75) 88 4 het unknown deletion chr6 rs142169332 0.27 - 0.0270 ncRNA_intronic HLA-F-AS1 Reference - - - - - - - - HLA-F-AS1 chr6 29760353 29760373 GCGGGCGCCGTGGATGGAGCA - 24/23(0.49) 1041 47 het nonframeshift deletion chr6 rs140982245 - - 0.0147 exonic LOC554223 Reference - - - - - - - - LOC554223,NM_001207043,exon2,c.438_458del,p.146_153del chr6 29760731 29760731 C - 3/4(0.57) 118 7 het unknown deletion chr6 rs143616751 0.09 - 0.0074 ncRNA_exonic HCG4 Reference - - - - - - - - HCG4 chr6 29796126 29796126 - C 20/29(0.59) 1132 49 het unknown insertion chr6 rs3215482 0.64 0.479332 0.1348 intronic HLA-G Reference - - - - - - - - HLA-G chr6 29796235 29796235 A - 8/12(0.60) 459 20 het unknown deletion chr6 rs34077202 0.64 - 0.1103 intronic HLA-G Reference - - - - - - - - HLA-G chr6 29855087 29855087 - GACAGGTAAGGAGTGGGA 1/6(0.86) 319 7 het unknown insertion chr6 - - - 0.0662 upstream HLA-H Reference - - - - - - - - HLA-H chr6 29855356 29855358 TCT - 13/11(0.46) 495 24 het unknown deletion chr6 rs151233761 0.17 - 0.0784 upstream HLA-H Reference - - - - - - - - HLA-H chr6 29855571 29855571 G - 20/36(0.64) 1332 56 het unknown deletion chr6 rs199775880 0.17 - 0.0270 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29855581 29855586 CCCTGA - 0/50(1.00) 2601 50 hom unknown deletion chr6 rs138946238 - - 0.1520 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29855862 29855862 A - 17/6(0.26) 222 23 het unknown deletion chr6 rs67564658 - - 0.0711 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29855864 29855864 - T 19/6(0.24) 262 25 het unknown insertion chr6 rs9280745 0.20 - 0.0662 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29857105 29857105 - C 28/6(0.18) 44 34 het unknown insertion chr6 - - - 0.0735 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29857236 29857236 G - 12/6(0.33) 185 18 het unknown deletion chr6 rs142456184 - - 0.0931 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29858507 29858510 CTTT - 60/28(0.32) 1244 88 het unknown deletion chr6 rs112745312 0.51 - 0.1054 ncRNA_exonic HLA-H Reference - - - - - - - - HLA-H chr6 29910421 29910421 A - 14/12(0.46) 545 26 het unknown deletion chr6 rs9278464 0.13 0.124899 0.0245 intronic HLA-A Reference - - - - - - - - HLA-A chr6 29911457 29911457 - T 0/53(1.00) 3070 53 hom unknown insertion chr6 rs140855897 0.96 - 0.1642 intronic HLA-A Reference - - - - - - - - HLA-A chr6 29912029 29912029 G - 25/5(0.17) 103 30 het frameshift deletion chr6 rs60304108 - 0.368365 0.1078 exonic HLA-A Reference - - - - - - - - HLA-A,NM_001242758,exon4,c.750delG,p.Q250fs;HLA-A,NM_002116,exon4,c.750delG,p.Q250fs chr6 29912228 29912230 GGA - 126/43(0.25) 1832 169 het unknown deletion chr6 rs146444598 - 0.437269 0.1005 intronic HLA-A Reference - - - - - - - - HLA-A chr6 29912414 29912414 G - 52/45(0.46) 1592 97 het unknown deletion chr6 rs112135909 0.47 0.494739 0.1201 intronic HLA-A Reference - - - - - - - - HLA-A chr6 29912653 29912655 AGA - 16/26(0.62) 1269 42 het unknown deletion chr6 rs67131684 - - 0.1127 intronic HLA-A Reference - - - - - - - - HLA-A chr6 29942706 29942706 - CTGCGGTGGT 2/4(0.67) 194 6 het unknown insertion chr6 rs5875223 0.37 - 0.0172 upstream HCG9 Reference - - - - - - - - HCG9 chr6 29942890 29942891 AG - 20/14(0.41) 631 34 het unknown deletion chr6 rs5875224 0.14 0.220855 0.0343 upstream HCG9 Reference - - - - - - - - HCG9 chr6 29974084 29974084 G - 5/3(0.38) 64 8 het unknown deletion chr6 rs146541051 0.15 - 0.0049 ncRNA_intronic HLA-J;ZNRD1-AS1 Reference - - - - - - - - HLA-J;ZNRD1-AS1 chr6 29975193 29975194 AT - 30/11(0.27) 466 41 het unknown deletion chr6 rs201432109 0.11 - 0.0221 ncRNA_intronic HLA-J;ZNRD1-AS1 Reference - - - - - - - - HLA-J;ZNRD1-AS1 chr6 29975197 29975199 CCC - 31/11(0.26) 347 42 het unknown deletion chr6 rs200029204 0.11 - 0.0221 ncRNA_intronic HLA-J;ZNRD1-AS1 Reference - - - - - - - - HLA-J;ZNRD1-AS1 chr6 29975201 29975203 GAA - 31/12(0.28) 495 43 het unknown deletion chr6 rs201045049 0.11 - 0.0221 ncRNA_intronic HLA-J;ZNRD1-AS1 Reference - - - - - - - - HLA-J;ZNRD1-AS1 chr6 29975967 29975967 C - 8/37(0.82) 910 45 het unknown deletion chr6 rs3835310 - - 0.0343 ncRNA_exonic HLA-J Reference - - - - - - - - HLA-J chr6 29975997 29975997 - TG 1/32(0.97) 1917 33 hom unknown insertion chr6 rs3835309 0.20 - 0.0441 ncRNA_exonic HLA-J Reference - - - - - - - - HLA-J chr6 29977359 29977359 - C 56/42(0.43) 2165 98 het unknown insertion chr6 rs3831361 0.15 - 0.0417 ncRNA_exonic HLA-J Reference - - - - - - - - HLA-J chr6 30039567 30039568 TG - 1/3(0.75) 114 4 het unknown deletion chr6 rs35559353 0.16 - 0.0098 intronic RNF39 Reference - - - - - - - - RNF39 chr6 30228399 30228399 G - 25/33(0.57) 1113 58 het unknown deletion chr6 rs35342115 0.48 0.253321 0.1275 ncRNA_intronic HCG17;HLA-L Reference - - - - - - - - HLA-L;HCG17 chr6 30228713 30228713 G - 13/5(0.28) 182 18 het unknown deletion chr6 rs113639903 0.44 - 0.1054 ncRNA_intronic HCG17;HLA-L Reference - - - - - - - - HLA-L;HCG17 chr6 30229034 30229034 - T 29/13(0.31) 652 42 het unknown insertion chr6 rs111358359 0.48 0.253637 0.1373 ncRNA_exonic HLA-L Reference - - - - - - - - HLA-L chr6 30229928 30229930 AGG - 14/9(0.39) 388 23 het unknown deletion chr6 rs66804924 0.48 - 0.0760 ncRNA_intronic HCG17;HLA-L Reference - - - - - - - - HLA-L;HCG17 chr6 30558477 30558477 - A 0/25(1.00) 1531 25 hom frameshift insertion chr6 rs72545970 0.69 0.696467 0.2328 exonic ABCF1 Reference - - - - - - - - ABCF1,NM_001025091,exon25,c.2538dupA,p.X846delinsX;ABCF1,NM_001090,exon24,c.2424dupA,p.X808delinsX chr6 30697771 30697771 - CTG 14/11(0.44) 577 25 het unknown insertion chr6 rs138527553 0.06 0.071622 0.0098 intronic FLOT1 Reference - - - - - - - - FLOT1 chr6 30707884 30707887 GCCT - 16/13(0.45) 591 29 het unknown deletion chr6 rs144939102 0.06 0.071630 0.0172 intronic FLOT1 Reference - - - - - - - - FLOT1 chr6 30859304 30859304 - TGTG 2/11(0.85) 591 13 het unknown insertion chr6 - - - - intronic DDR1 Reference - - - - - - - - DDR1 chr6 30883879 30883886 AAGCAACC - 0/63(1.00) 3070 63 hom unknown deletion chr6 rs140067796 0.88 0.717173 0.1887 intronic VARS2 Reference - - - - - - - - VARS2 chr6 30893000 30893000 C - 53/53(0.50) 2568 106 het unknown deletion chr6 rs35056976 0.52 0.190471 0.1225 intronic VARS2 Reference - - - - - - - - VARS2 chr6 30893563 30893563 G - 8/6(0.43) 186 14 het unknown deletion chr6 rs34092836 0.02 - 0.0025 intronic VARS2 Reference - - - - - - - - VARS2 chr6 31083798 31083800 CTT - 6/6(0.50) 255 12 het unknown deletion chr6 rs56899166 - 0.545410 0.1324 3-UTR CDSN Reference - - - - - - - - CDSN chr6 31084943 31084945 CTT - 37/34(0.48) 1611 71 het nonframeshift deletion chr6 rs34182778 0.18 0.223501 0.1078 exonic CDSN Reference - - - - - - - - CDSN,NM_001264,exon2,c.447_449del,p.149_150del chr6 31106501 31106501 C - 55/66(0.55) 1775 121 het frameshift deletion chr6 rs111966729 - 0.143700 0.0490 exonic PSORS1C1 Reference - - - - - - - - PSORS1C1,NM_014068,exon5,c.112delC,p.P38fs chr6 31107724 31107724 C - 59/44(0.43) 1534 103 het unknown deletion chr6 rs75914582 0.10 0.170205 0.0392 3-UTR PSORS1C1 Reference - - - - - - - - PSORS1C1 chr6 31117757 31117759 AAT - 8/9(0.53) 406 17 het unknown deletion chr6 rs149586308 0.05 - 0.0196 intronic CCHCR1 Reference - - - - - - - - CCHCR1 chr6 31125067 31125067 - AACT 0/49(1.00) 3019 49 hom unknown insertion chr6 rs10602569 - - 0.1299 intronic CCHCR1 Reference - - - - - - - - CCHCR1 chr6 31128942 31128946 AAAAG - 1/3(0.75) 100 4 het unknown deletion chr6 rs145076888 0.52 - - intronic TCF19 Reference - - - - - - - - TCF19 chr6 31132689 31132689 - GA 1/39(0.97) 2373 40 hom unknown insertion chr6 rs34176717 - 0.701756 0.1152 intronic POU5F1 Reference - - - - - - - - POU5F1 chr6 31133577 31133577 - AAGCCC 1/40(0.98) 2421 41 hom unknown insertion chr6 rs145919884 0.41 - 0.0931 5-UTR POU5F1 Reference - - - - - - - - POU5F1 chr6 31133620 31133620 - AG 0/21(1.00) 1279 21 hom unknown insertion chr6 rs34631505 0.59 - 0.2255 5-UTR POU5F1 Reference - - - - - - - - POU5F1 chr6 31134118 31134118 - GAG 40/46(0.53) 1634 86 het unknown insertion chr6 rs79966288 0.79 - 0.1814 5-UTR POU5F1 Reference - - - - - - - - POU5F1 chr6 31134120 31134120 - G 44/40(0.48) 1359 84 het unknown insertion chr6 - - - 0.0025 5-UTR POU5F1 Reference - - - - - - - - POU5F1 chr6 31134122 31134122 - GC 45/41(0.48) 1388 86 het unknown insertion chr6 - - - 0.0049 5-UTR POU5F1 Reference - - - - - - - - POU5F1 chr6 31237932 31237934 AGA - 0/19(1.00) 1006 19 hom unknown deletion chr6 rs35424484 0.75 - 0.1201 intronic HLA-C Reference - - - - - - - - HLA-C chr6 31239271 31239275 ATCCA - 0/20(1.00) 1062 20 hom unknown deletion chr6 rs66565287 - - 0.1520 intronic HLA-C Reference - - - - - - - - HLA-C chr6 31240010 31240010 - AGA 0/17(1.00) 996 17 hom unknown insertion chr6 rs10657191 - - 0.1005 upstream HLA-C Reference - - - - - - - - HLA-C chr6 31323039 31323039 - GAAGGGCTCCA 1/82(0.99) 3070 83 hom unknown insertion chr6 rs70990234 0.58 0.467233 0.1324 intronic HLA-B Reference - - - - - - - - HLA-B chr6 31323525 31323527 CTC - 50/41(0.45) 1951 91 het unknown deletion chr6 rs145440646 0.07 - 0.0098 intronic HLA-B Reference - - - - - - - - HLA-B chr6 31324851 31324851 - C 0/12(1.00) 634 12 hom unknown insertion chr6 rs148300790 - 0.404694 0.1103 intronic HLA-B Reference - - - - - - - - HLA-B chr6 31380091 31380091 - T 20/15(0.43) 389 35 het unknown insertion chr6 rs147915864 0.28 0.339436 0.0809 intronic MICA Reference - - - - - - - - MICA chr6 31380161 31380161 - CTGCTGCTGCT 16/17(0.52) 931 33 het frameshift insertion chr6 - - - 0.0074 exonic MICA Reference - - - - - - - - MICA,NM_001177519,exon5,c.952_953insCTGCTGCTGCT,p.G318fs chr6 31465832 31465833 CT - 12/14(0.54) 655 26 het unknown deletion chr6 rs139672326 0.23 - 0.0760 upstream MICB Reference - - - - - - - - MICB chr6 31477768 31477769 AG - 35/43(0.55) 2099 78 het unknown deletion chr6 rs35833207 0.86 - 0.1569 3-UTR MICB Reference - - - - - - - - MICB chr6 31498244 31498244 - C 22/16(0.42) 853 38 het unknown insertion chr6 rs35405369 0.05 0.115088 0.0196 ncRNA_intronic ATP6V1G2-DDX39B Reference - - - - - - - - ATP6V1G2-DDX39B chr6 31508861 31508861 - G 29/38(0.57) 2028 67 het unknown insertion chr6 rs11444847 0.11 0.069011 0.0221 ncRNA_intronic ATP6V1G2-DDX39B Reference - - - - - - - - ATP6V1G2-DDX39B chr6 31514154 31514157 CTGT - 0/41(1.00) 2198 41 hom unknown deletion chr6 rs72512557 0.91 - 0.1569 ncRNA_intronic ATP6V1G2-DDX39B Reference - - - - - - - - ATP6V1G2-DDX39B chr6 31540481 31540481 - TC 55/40(0.42) 2184 95 het unknown insertion chr6 rs146166975 - - 0.0662 intronic LTA Reference - - - - - - - - LTA chr6 31558031 31558031 T - 6/17(0.74) 829 23 het unknown deletion chr6 rs34015415 0.61 - 0.1250 intronic NCR3 Reference - - - - - - - - NCR3 chr6 31606901 31606901 - AAAG 22/22(0.50) 1213 44 het unknown insertion chr6 rs5875328 0.06 0.184665 0.0294 3-UTR BAG6 Reference - - - - - - - - BAG6 chr6 31607096 31607096 - C 5/5(0.50) 88 10 het unknown insertion chr6 rs5875329 - - 0.0196 intronic BAG6 Reference - - - - - - - - BAG6 chr6 31619316 31619325 AAAAAAAAGA - 14/8(0.36) 337 22 het unknown deletion chr6 - - - 0.0098 intronic BAG6 Reference - - - - - - - - BAG6 chr6 31668556 31668556 C - 8/8(0.50) 354 16 het unknown deletion chr6 rs59783939 0.06 - 0.0147 intronic ABHD16A Reference - - - - - - - - ABHD16A chr6 31669150 31669151 AC - 46/28(0.38) 1279 74 het unknown deletion chr6 rs3830950 - - 0.1103 intronic ABHD16A Reference - - - - - - - - ABHD16A chr6 31797769 31797769 - AAGTT 6/5(0.45) 242 11 het unknown insertion chr6 - 0.29 - 0.0588 3-UTR HSPA1B Reference - - - - - - - - HSPA1B chr6 31803064 31803064 T - 0/145(1.00) 3070 145 hom unknown deletion chr6 rs34103657 - 0.952166 0.1863 ncRNA_exonic SNORD48 Reference - - - - - - - - SNORD48 chr6 31948422 31948424 CTC - 8/10(0.56) 458 18 het unknown deletion chr6 rs35227293 0.09 0.183361 0.0319 intronic STK19 Reference - - - - - - - - STK19 chr6 32006215 32006217 CTG - 16/5(0.24) 174 21 het unknown deletion chr6 rs138498156 - 0.223960 0.0343 intergenic C4B_2;TNXB Reference - - - - - - - - TNXB(dist=2715);C4B_2(dist=3020) chr6 32017374 32017376 AGA - 15/23(0.61) 1099 38 het unknown deletion chr6 rs199828189 0.02 - 0.0123 intronic TNXB Reference - - - - - - - - TNXB chr6 32123394 32123394 - GG 2/2(0.50) 87 4 het unknown insertion chr6 - - - - ncRNA_intronic PPT2-EGFL8 Reference - - - - - - - - PPT2-EGFL8 chr6 32191668 32191670 AGC - 1/21(0.95) 808 22 het nonframeshift deletion chr6 rs68148248 - - - exonic NOTCH4 Reference - - - - - - - - NOTCH4,NM_004557,exon1,c.36_38del,p.12_13del chr6 32191659 32191670 AGCAGCAGCAGC - 1/21(0.95) 808 22 het nonframeshift deletion chr6 rs150280230 - - 0.0270 exonic NOTCH4 Reference - - - - - - - - NOTCH4,NM_004557,exon1,c.36_47del,p.12_16del chr6 32291271 32291272 AG - 31/31(0.50) 1468 62 het unknown deletion chr6 rs3038470 0.40 - 0.1422 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32292392 32292392 - AACT 29/28(0.49) 1552 57 het unknown insertion chr6 rs200303671 - - 0.1495 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32301370 32301371 AC - 1/3(0.75) 114 4 het unknown deletion chr6 rs36044579 0.40 - 0.0049 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32301375 32301375 - A 1/3(0.75) 137 4 het unknown insertion chr6 rs34123168 - - 0.0049 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32306658 32306662 AAAGA - 17/11(0.39) 484 28 het unknown deletion chr6 rs140578865 - - 0.0368 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32317923 32317926 TTTC - 58/50(0.46) 2397 108 het unknown deletion chr6 rs143741085 0.40 - 0.1250 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32333837 32333837 - TTC 0/20(1.00) 1197 20 hom unknown insertion chr6 rs148493843 0.89 - 0.1176 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32335778 32335778 A - 0/45(1.00) 1967 45 hom unknown deletion chr6 rs11386594 0.89 0.745106 0.1373 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32337854 32337854 - T 0/23(1.00) 773 23 hom unknown insertion chr6 rs111479233 0.87 - 0.1078 intronic C6orf10 Reference - - - - - - - - C6orf10 chr6 32410160 32410160 G - 24/29(0.55) 1151 53 het unknown deletion chr6 rs70993830 0.04 - 0.0123 intronic HLA-DRA Reference - - - - - - - - HLA-DRA chr6 32428097 32428097 - G 3/2(0.40) 71 5 het unknown insertion chr6 rs147642819 0.24 - 0.0098 intergenic HLA-DRA;HLA-DRB5 Reference - - - - - - - - HLA-DRA(dist=15271);HLA-DRB5(dist=57057) chr6 32548657 32548659 TGA - 8/2(0.20) 35 10 het unknown deletion chr6 rs72508181 - - 0.0245 intronic HLA-DRB1 Reference - - - - - - - - HLA-DRB1 chr6 32557568 32557568 - AT 9/2(0.18) 81 11 het unknown insertion chr6 - - - 0.0123 5-UTR HLA-DRB1 Reference - - - - - - - - HLA-DRB1 chr6 32557588 32557588 - T 2/5(0.71) 251 7 het unknown insertion chr6 rs28383887 - - 0.0172 5-UTR HLA-DRB1 Reference - - - - - - - - HLA-DRB1 chr6 32609612 32609612 - TA 22/3(0.12) 73 25 het unknown insertion chr6 rs9282027 - - 0.0221 intronic HLA-DQA1 Reference - - - - - - - - HLA-DQA1 chr6 32609618 32609619 GC - 23/3(0.12) 48 26 het unknown deletion chr6 rs9279912 - - 0.0221 intronic HLA-DQA1 Reference - - - - - - - - HLA-DQA1 chr6 32609696 32609696 - GAAG 64/16(0.20) 722 80 het unknown insertion chr6 - - - 0.0294 intronic HLA-DQA1 Reference - - - - - - - - HLA-DQA1 chr6 32609698 32609698 T - 64/18(0.22) 553 82 het unknown deletion chr6 - - - 0.0294 intronic HLA-DQA1 Reference - - - - - - - - HLA-DQA1 chr6 32610100 32610100 C - 21/5(0.19) 115 26 het unknown deletion chr6 rs202164132 0.35 - 0.0613 intronic HLA-DQA1 Reference - - - - - - - - HLA-DQA1 chr6 32628741 32628741 - TTAA 23/5(0.18) 189 28 het unknown insertion chr6 - - - 0.0466 intronic HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32629247 32629247 - C 0/43(1.00) 2665 43 hom unknown insertion chr6 - 0.81 0.593515 0.1544 intronic HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32629697 32629697 - CTGCC 22/19(0.46) 1033 41 het unknown insertion chr6 rs148411365 - - 0.0760 intronic HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32629708 32629708 - G 0/43(1.00) 2374 43 hom unknown insertion chr6 rs111657760 0.85 0.723099 0.3162 intronic HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32630054 32630055 AT - 9/10(0.53) 455 19 het unknown deletion chr6 rs67216335 0.47 0.230959 0.0539 intronic HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32634209 32634209 A - 4/4(0.50) 157 8 het unknown deletion chr6 rs200030215 0.64 - 0.0833 intronic HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32634564 32634564 - T 0/10(1.00) 44 10 het unknown insertion chr6 - - - 0.0392 upstream HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32634564 32634564 - TT 0/10(1.00) 44 10 het unknown insertion chr6 rs141479977 - - 0.0074 upstream HLA-DQB1 Reference - - - - - - - - HLA-DQB1 chr6 32714183 32714183 A - 53/44(0.45) 1552 97 het unknown deletion chr6 rs28993557 0.67 0.423872 0.1789 3-UTR HLA-DQA2 Reference - - - - - - - - HLA-DQA2 chr6 32725523 32725523 - C 2/4(0.67) 147 6 het unknown insertion chr6 rs112856976 - - 0.1152 intronic HLA-DQB2 Reference - - - - - - - - HLA-DQB2 chr6 32725672 32725672 - G 47/32(0.41) 1737 79 het unknown insertion chr6 rs113687021 - - 0.1691 intronic HLA-DQB2 Reference - - - - - - - - HLA-DQB2 chr6 32729382 32729382 A - 20/17(0.46) 640 37 het unknown deletion chr6 rs34694311 0.78 - 0.1520 intronic HLA-DQB2 Reference - - - - - - - - HLA-DQB2 chr6 32847310 32847310 C - 76/57(0.43) 2215 133 het unknown deletion chr6 rs34065341 0.27 - 0.1054 intergenic PSMB9;LOC100294145 Reference - - - - - - - - PSMB9(dist=19682);LOC100294145(dist=14643) chr6 32916540 32916540 - CTT 13/15(0.54) 820 28 het unknown insertion chr6 rs3833947 0.80 - 0.1618 3-UTR HLA-DMA Reference - - - - - - - - HLA-DMA chr6 32943304 32943305 TT - 23/15(0.39) 449 38 het unknown deletion chr6 rs148726335 0.19 0.047019 0.0441 intronic BRD2 Reference - - - - - - - - BRD2 chr6 32943979 32943979 - T 62/58(0.48) 3070 120 het unknown insertion chr6 rs2066741 0.38 0.512901 0.1225 intronic BRD2 Reference - - - - - - - - BRD2 chr6 33052626 33052626 - AAGG 12/9(0.43) 437 21 het unknown insertion chr6 - - - 0.0221 intronic HLA-DPB1 Reference - - - - - - - - HLA-DPB1 chr6 33136675 33136675 - C 0/17(1.00) 562 17 hom unknown insertion chr6 rs113461359 - - 0.1397 intronic COL11A2 Reference - - - - - - - - COL11A2 chr6 33138747 33138747 A - 0/67(1.00) 3070 67 hom unknown deletion chr6 rs9280358 0.89 0.719716 0.1716 intronic COL11A2 Reference - - - - - - - - COL11A2 chr6 33141929 33141929 C - 13/20(0.61) 596 33 het unknown deletion chr6 rs55730247 0.47 0.081763 0.1201 intronic COL11A2 Reference - - - - - - - - COL11A2 chr6 33173749 33173750 AG - 6/13(0.68) 615 19 het unknown deletion chr6 rs138017504 - - 0.0784 intronic HSD17B8 Reference - - - - - - - - HSD17B8 chr6 33231191 33231191 - ACACACACACAC 2/6(0.75) 315 8 het unknown insertion chr6 - - - - intronic VPS52 Reference - - - - - - - - VPS52 chr6 33254556 33254556 - G 20/13(0.39) 679 33 het unknown insertion chr6 rs9282487 - 0.390335 0.1078 intronic WDR46 Reference - - - - - - - - WDR46 chr6 33260187 33260189 TTT - 79/44(0.36) 1558 123 het unknown deletion chr6 rs149708654 0.12 0.132827 0.0417 intronic RGL2 Reference - - - - - - - - RGL2 chr6 33269689 33269689 - TG 8/4(0.33) 176 12 het unknown insertion chr6 rs5875446 - - 0.0613 intronic TAPBP Reference - - - - - - - - TAPBP chr6 33372056 33372056 - C 4/3(0.43) 128 7 het unknown insertion chr6 - 0.31 - 0.0466 intronic KIFC1 Reference - - - - - - - - KIFC1 chr6 33380903 33380904 AA - 23/19(0.45) 683 42 het unknown deletion chr6 rs137983869 0.02 - - intronic PHF1 Reference - - - - - - - - PHF1 chr6 33382417 33382418 TG - 30/29(0.49) 1384 59 het unknown deletion chr6 rs10531042 0.64 - 0.1495 intronic PHF1 Reference - - - - - - - - PHF1 chr6 33408466 33408467 TC - 22/4(0.15) 103 26 het unknown deletion chr6 rs138475712 - - 0.0074 intronic SYNGAP1 Reference - - - - - - - - SYNGAP1 chr6 33408891 33408892 TG - 18/3(0.14) 66 21 het unknown deletion chr6 - - - 0.0049 intronic SYNGAP1 Reference - - - - - - - - SYNGAP1 chr6 33631156 33631161 GGGAGG - 0/12(1.00) 620 12 hom unknown deletion chr6 rs150756255 0.38 - 0.3260 intronic ITPR3 Reference - - - - - - - - ITPR3 chr6 33641196 33641196 - G 0/12(1.00) 713 12 hom unknown insertion chr6 rs3215789 0.34 - 0.2770 intronic ITPR3 Reference - - - - - - - - ITPR3 chr6 34210470 34210470 - C 10/9(0.47) 309 19 het unknown insertion chr6 rs139876191 0.11 0.038746 0.1005 intronic HMGA1 Reference - - - - - - - - HMGA1 chr6 34211342 34211342 T - 24/39(0.62) 1586 63 het unknown deletion chr6 rs35381162 0.87 0.871725 0.4975 intronic HMGA1 Reference - - - - - - - - HMGA1 chr6 34214994 34214994 - TC 0/25(1.00) 1499 25 hom unknown insertion chr6 - - - 0.4436 intronic C6orf1 Reference - - - - - - - - C6orf1 chr6 34857302 34857302 - GGCGGC 15/4(0.21) 151 19 het nonframeshift insertion chr6 - - - 0.0907 exonic ANKS1A Reference - - - - - - - - ANKS1A,NM_015245,exon1,c.123_124insGGCGGC,p.G41delinsGGG chr6 35053384 35053392 TAGGAAGAG - 6/12(0.67) 567 18 het unknown deletion chr6 rs66645129 0.26 - 0.2770 intronic ANKS1A Reference - - - - - - - - ANKS1A chr6 35054984 35054997 GCAGCGTAGACGCT - 25/19(0.43) 878 44 het unknown deletion chr6 rs71650764 0.27 - 0.3039 intronic ANKS1A Reference - - - - - - - - ANKS1A chr6 35445212 35445212 C - 14/10(0.42) 316 24 het unknown deletion chr6 rs3215481 0.20 0.230743 0.2206 intronic TEAD3 Reference - - - - - - - - TEAD3 chr6 35480524 35480524 - G 15/10(0.40) 514 25 het unknown insertion chr6 - - - 0.0711 intronic TULP1 Reference - - - - - - - - TULP1 chr6 35480527 35480533 TCCCCAT - 15/10(0.40) 438 25 het unknown deletion chr6 rs201979805 0.03 0.071108 0.0711 intronic TULP1 Reference - - - - - - - - TULP1 chr6 36040643 36040643 T - 1/60(0.98) 2578 61 hom unknown deletion chr6 rs61763106 0.49 0.072125 0.3578 intronic MAPK14 Reference - - - - - - - - MAPK14 chr6 36198397 36198397 G - 28/34(0.55) 1290 62 het unknown deletion chr6 rs3833482 0.19 0.224281 0.2721 3-UTR BRPF3 Reference - - - - - - - - BRPF3 chr6 36452603 36452603 - A 17/17(0.50) 42 34 het splicing insertion chr6 - - - 0.1985 splicing KCTD20 Reference - - - - - - - - KCTD20(NM_001286579,exon4,c.469+2->A;NM_173562,exon7,c.967+2->A);NM_001286580,exon6,c.532+2->A chr6 36483296 36483299 CACA - 7/3(0.30) 96 10 het unknown deletion chr6 rs150740806 - - 0.2328 intronic STK38 Reference - - - - - - - - STK38 chr6 36712669 36712669 A - 0/22(1.00) 1172 22 hom unknown deletion chr6 rs3833930 0.19 - 0.2083 intronic CPNE5 Reference - - - - - - - - CPNE5 chr6 36789940 36789940 - G 1/97(0.99) 3070 98 hom unknown insertion chr6 - 0.32 0.190203 0.3407 intronic CPNE5 Reference - - - - - - - - CPNE5 chr6 36823502 36823502 - A 8/4(0.33) 163 12 het unknown insertion chr6 rs34310774 0.42 - 0.3505 3-UTR PPIL1 Reference - - - - - - - - PPIL1 chr6 36853685 36853685 - C 0/14(1.00) 748 14 hom unknown insertion chr6 - - - 0.4265 5-UTR C6orf89 Reference - - - - - - - - C6orf89 chr6 36853786 36853786 - G 0/18(1.00) 854 18 hom unknown insertion chr6 - - 0.998665 0.4387 5-UTR C6orf89 Reference - - - - - - - - C6orf89 chr6 36853857 36853857 - CGC 0/29(1.00) 1783 29 hom unknown insertion chr6 rs10659877 - 0.990317 0.4485 intronic C6orf89 Reference - - - - - - - - C6orf89 chr6 36982309 36982309 - T 0/26(1.00) 1594 26 hom unknown insertion chr6 rs145212908 0.51 - 0.3529 intronic FGD2 Reference - - - - - - - - FGD2 chr6 38759555 38759555 - T 4/7(0.64) 80 11 het unknown insertion chr6 rs3839625 - - 0.1936 intronic DNAH8 Reference - - - - - - - - DNAH8 chr6 38828424 38828424 - T 0/12(1.00) 431 12 hom unknown insertion chr6 rs34840510 0.67 0.403852 0.3603 intronic DNAH8 Reference - - - - - - - - DNAH8 chr6 38882938 38882938 G - 6/5(0.45) 160 11 het unknown deletion chr6 rs5875644 0.15 0.117402 0.1740 ncRNA_intronic LOC100131047 Reference - - - - - - - - LOC100131047 chr6 38885011 38885011 A - 12/7(0.37) 290 19 het unknown deletion chr6 rs11291395 0.48 0.518371 0.4093 ncRNA_intronic LOC100131047 Reference - - - - - - - - LOC100131047 chr6 39162599 39162599 - A 9/8(0.47) 387 17 het unknown insertion chr6 rs150388980 0.08 - 0.0907 intronic KCNK5 Reference - - - - - - - - KCNK5 chr6 39278851 39278868 CACACACACACACACACA - 5/4(0.44) 147 9 het unknown deletion chr6 - - - - intronic KCNK17 Reference - - - - - - - - KCNK17 chr6 39278849 39278868 CACACACACACACACACACA - 5/4(0.44) 147 9 het unknown deletion chr6 - - - - intronic KCNK17 Reference - - - - - - - - KCNK17 chr6 39313618 39313618 - A 57/46(0.45) 2546 103 het unknown insertion chr6 - 0.22 0.334904 0.1765 intronic KIF6 Reference - - - - - - - - KIF6 chr6 39866805 39866805 - ACAATGGGC 1/67(0.99) 3070 68 hom unknown insertion chr6 rs3830992 0.89 - 0.4583 intronic DAAM2 Reference - - - - - - - - DAAM2 chr6 39873595 39873595 - CAGGA 18/14(0.44) 660 32 het unknown insertion chr6 rs138907488 0.29 - 0.2574 3-UTR MOCS1 Reference - - - - - - - - MOCS1 chr6 41169021 41169021 - A 0/11(1.00) 650 11 hom unknown insertion chr6 rs5875743 - - 0.3848 upstream TREML2 Reference - - - - - - - - TREML2 chr6 41196104 41196104 - CTT 0/21(1.00) 1279 21 hom unknown insertion chr6 rs10700462 - 0.842097 0.4975 5-UTR TREML4 Reference - - - - - - - - TREML4 chr6 41304623 41304623 - A 2/3(0.60) 40 5 het unknown insertion chr6 rs140145861 - - 0.2083 intronic NCR2 Reference - - - - - - - - NCR2 chr6 41712716 41712719 TCTG - 6/4(0.40) 151 10 het unknown deletion chr6 rs150011417 0.52 - 0.1691 intronic PGC Reference - - - - - - - - PGC chr6 41721682 41721682 - T 0/68(1.00) 3070 68 hom unknown insertion chr6 rs72552008 0.34 - 0.3088 intergenic PGC;FRS3 Reference - - - - - - - - FRS3(dist=16232);PGC(dist=6543) chr6 41754573 41754573 - CTT 0/157(1.00) 3070 157 hom nonframeshift insertion chr6 rs140326303 0.57 0.550495 0.5637 exonic PRICKLE4 Reference - - - - - - - - PRICKLE4,NM_013397,exon8,c.861_862insCTT,p.L287delinsLL chr6 42176744 42176744 G - 1/5(0.83) 186 6 het unknown deletion chr6 rs57369579 0.93 - 0.3407 intronic MRPS10 Reference - - - - - - - - MRPS10 chr6 42210936 42210936 - G 30/31(0.51) 1394 61 het unknown insertion chr6 rs3830886 0.15 0.203754 0.0882 intronic TRERF1 Reference - - - - - - - - TRERF1 chr6 42650766 42650766 - T 0/18(1.00) 776 18 hom unknown insertion chr6 - 0.92 0.849840 0.3775 intronic UBR2 Reference - - - - - - - - UBR2 chr6 42897358 42897360 TGC - 22/3(0.12) 52 25 het nonframeshift deletion chr6 - - - - exonic CNPY3 Reference - - - - - - - - CNPY3,NM_006586,exon1,c.50_52del,p.17_18del chr6 43970503 43970503 - GCGGCG 7/9(0.56) 491 16 het nonframeshift insertion chr6 - - - 0.0907 exonic C6orf223 Reference - - - - - - - - C6orf223,NM_153246,exon4,c.369_370insGCGGCG,p.R123delinsRAA chr6 44102572 44102572 - T 0/62(1.00) 3070 62 hom unknown insertion chr6 rs3841315 0.79 - 0.5074 intronic TMEM63B Reference - - - - - - - - TMEM63B chr6 44122417 44122419 CTC - 1/7(0.88) 322 8 het unknown deletion chr6 rs10537719 - 0.464856 0.3873 intronic TMEM63B Reference - - - - - - - - TMEM63B chr6 44134611 44134613 TCC - 23/17(0.42) 764 40 het unknown deletion chr6 rs34901210 0.32 0.301579 0.2819 intronic CAPN11 Reference - - - - - - - - CAPN11 chr6 44136667 44136667 - T 9/4(0.31) 33 13 het unknown insertion chr6 - 0.31 - 0.2230 intronic CAPN11 Reference - - - - - - - - CAPN11 chr6 44144743 44144743 - G 25/22(0.47) 947 47 het unknown insertion chr6 - 0.13 0.120289 0.2083 intronic CAPN11 Reference - - - - - - - - CAPN11 chr6 44269665 44269667 AGG - 11/12(0.52) 553 23 het unknown deletion chr6 rs10578812 0.38 - 0.2696 intronic AARS2 Reference - - - - - - - - AARS2 chr6 44355677 44355677 - GG 0/15(1.00) 491 15 hom unknown insertion chr6 rs200129832 - 0.038268 0.2990 intronic CDC5L Reference - - - - - - - - CDC5L chr6 45871000 45871001 AG - 41/32(0.44) 1508 73 het unknown deletion chr6 rs35735653 0.46 0.340735 0.3848 intronic CLIC5 Reference - - - - - - - - CLIC5 chr6 46672453 46672456 AATC - 5/9(0.64) 415 14 het unknown deletion chr6 rs148052037 0.55 0.284149 0.3309 intronic PLA2G7 Reference - - - - - - - - PLA2G7 chr6 46834907 46834907 G - 0/32(1.00) 1447 32 hom unknown deletion chr6 rs5875987 0.99 0.817173 0.4510 intronic GPR116 Reference - - - - - - - - GPR116 chr6 46867899 46867899 A - 0/26(1.00) 1119 26 hom unknown deletion chr6 rs3215601 0.40 - 0.2868 intronic GPR116 Reference - - - - - - - - GPR116 chr6 46993748 46993751 AGAA - 0/17(1.00) 879 17 hom unknown deletion chr6 rs3832434 0.19 0.064856 0.1838 intronic GPR110 Reference - - - - - - - - GPR110 chr6 47653813 47653813 A - 5/10(0.67) 343 15 het unknown deletion chr6 rs60074575 0.30 - 0.2181 intronic GPR111 Reference - - - - - - - - GPR111 chr6 47661261 47661261 C - 1/3(0.75) 113 4 het unknown deletion chr6 rs200900695 - - 0.2843 intronic GPR111 Reference - - - - - - - - GPR111 chr6 47678456 47678456 T - 52/67(0.56) 1813 119 het unknown deletion chr6 rs11356177 0.29 - 0.2623 intronic GPR115 Reference - - - - - - - - GPR115 chr6 47686398 47686398 T - 2/2(0.50) 58 4 het unknown deletion chr6 rs11476874 0.30 - 0.2132 intronic GPR115 Reference - - - - - - - - GPR115 chr6 50681661 50681661 T - 10/13(0.57) 185 23 het unknown deletion chr6 rs35537220 - - 0.2672 5-UTR TFAP2D Reference - - - - - - - - TFAP2D chr6 52374319 52374319 - AC 34/29(0.46) 1591 63 het unknown insertion chr6 rs143458340 - 0.126997 0.3897 intronic TRAM2 Reference - - - - - - - - TRAM2 chr6 53134104 53134104 - ACAG 32/19(0.37) 1002 51 het unknown insertion chr6 rs3830806 0.40 0.602716 0.3211 intronic ELOVL5 Reference - - - - - - - - ELOVL5 chr6 53134164 53134164 - CTTTT 18/9(0.33) 444 27 het unknown insertion chr6 rs70980834 - - 0.2696 intronic ELOVL5 Reference - - - - - - - - ELOVL5 chr6 53373624 53373624 - CTCCAC 1/3(0.75) 137 4 het unknown insertion chr6 rs3830795 - - 0.3456 intronic GCLC Reference - - - - - - - - GCLC chr6 53378861 53378861 - T 8/5(0.38) 236 13 het unknown insertion chr6 rs17883525 0.58 - 0.3064 intronic GCLC Reference - - - - - - - - GCLC chr6 53784268 53784268 - T 6/11(0.65) 296 17 het unknown insertion chr6 rs201904593 0.90 0.685137 0.2500 intronic LRRC1 Reference - - - - - - - - LRRC1 chr6 55442034 55442042 ATAGAAAAA - 0/19(1.00) 1006 19 hom unknown deletion chr6 rs147198216 0.61 - 0.3627 intronic HMGCLL1 Reference - - - - - - - - HMGCLL1 chr6 57246773 57246773 - AGG 54/52(0.49) 2912 106 het unknown insertion chr6 rs113849959 - - 0.4240 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57372375 57372375 T - 107/34(0.24) 1121 141 het unknown deletion chr6 rs68090917 - - 0.3529 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57372457 57372457 - T 7/8(0.53) 110 15 het unknown insertion chr6 rs35847678 - - 0.0025 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57372457 57372457 T - 7/8(0.53) 110 15 het unknown deletion chr6 rs35141035 - - 0.0956 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57372524 57372524 G - 4/4(0.50) 157 8 het unknown deletion chr6 rs10706124 - - 0.2745 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57372526 57372526 - TTTA 3/5(0.62) 251 8 het unknown insertion chr6 rs10635932 - - 0.2255 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57398186 57398186 - A 132/31(0.19) 1054 163 het unknown insertion chr6 rs147954160 - - 0.2990 exonic PRIM2 Reference - - - - - - - - PRIM2 chr6 57472344 57472344 - T 175/77(0.31) 2284 252 het unknown insertion chr6 - - - 0.4142 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57499042 57499042 - T 47/15(0.24) 302 62 het unknown insertion chr6 - - 0.456262 0.3309 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57499196 57499196 - A 2/4(0.67) 181 6 het unknown insertion chr6 - - - 0.2770 intronic PRIM2 Reference - - - - - - - - PRIM2 chr6 57512787 57512787 - CACCAAGGC 8/7(0.47) 355 15 het unknown insertion chr6 - - - 0.0760 3-UTR PRIM2 Reference - - - - - - - - PRIM2 chr6 57512788 57512788 - TA 7/7(0.50) 359 14 het splicing insertion chr6 - - - 0.1127 splicing PRIM2 Reference - - - - - - - - PRIM2(NM_000947,exon14,c.1615+1->TA) chr6 57512794 57512796 ATT - 7/7(0.50) 304 14 het splicing deletion chr6 - - - 0.1422 splicing PRIM2 Reference - - - - - - - - PRIM2 chr6 65327186 65327188 AGA - 10/6(0.38) 243 16 het unknown deletion chr6 - - - 0.0147 intronic EYS Reference - - - - - - - - EYS chr6 66005740 66005740 - A 2/28(0.93) 612 30 hom unknown insertion chr6 rs35045551 - - 0.3799 intronic EYS Reference - - - - - - - - EYS chr6 66115281 66115281 - AA 30/26(0.46) 520 56 het unknown insertion chr6 - - - 0.1887 intronic EYS Reference - - - - - - - - EYS chr6 69666183 69666183 - TA 1/4(0.80) 174 5 het unknown insertion chr6 rs143618979 0.91 - 0.2598 intronic BAI3 Reference - - - - - - - - BAI3 chr6 69666748 69666748 A - 19/24(0.56) 379 43 het unknown deletion chr6 rs3215965 - - 0.4020 intronic BAI3 Reference - - - - - - - - BAI3 chr6 69786046 69786046 - A 0/15(1.00) 377 15 hom unknown insertion chr6 - 0.94 - 0.3725 intronic BAI3 Reference - - - - - - - - BAI3 chr6 69943418 69943418 - G 0/64(1.00) 3070 64 hom unknown insertion chr6 rs3215840 0.79 - 0.4755 intronic BAI3 Reference - - - - - - - - BAI3 chr6 70042995 70043006 ATTTTGTTATTG - 39/23(0.37) 1047 62 het unknown deletion chr6 rs113046536 0.04 - 0.0588 intronic BAI3 Reference - - - - - - - - BAI3 chr6 70639637 70639637 - A 14/6(0.30) 49 20 het unknown insertion chr6 rs111529827 0.30 0.293377 0.2181 intronic COL19A1 Reference - - - - - - - - COL19A1 chr6 70852607 70852607 - T 21/9(0.30) 122 30 het unknown insertion chr6 - - - 0.2255 intronic COL19A1 Reference - - - - - - - - COL19A1 chr6 70854209 70854210 AG - 53/34(0.39) 1577 87 het unknown deletion chr6 rs58591338 0.33 0.487857 0.2353 intronic COL19A1 Reference - - - - - - - - COL19A1 chr6 70854924 70854924 - T 9/7(0.44) 230 16 het unknown insertion chr6 - 0.32 0.486736 0.2059 intronic COL19A1 Reference - - - - - - - - COL19A1 chr6 70878029 70878030 TC - 12/6(0.33) 237 18 het unknown deletion chr6 rs113479893 0.11 - 0.1299 intronic COL19A1 Reference - - - - - - - - COL19A1 chr6 70983889 70983889 T - 6/9(0.60) 71 15 het unknown deletion chr6 rs34897704 - - 0.1446 intronic COL9A1 Reference - - - - - - - - COL9A1 chr6 70991004 70991004 A - 2/17(0.89) 155 19 het unknown deletion chr6 rs34962262 - - 0.3505 intronic COL9A1 Reference - - - - - - - - COL9A1 chr6 72858417 72858418 TT - 2/66(0.97) 575 68 hom unknown deletion chr6 rs151080929 - - 0.3603 intronic RIMS1 Reference - - - - - - - - RIMS1 chr6 72961148 72961148 T - 11/9(0.45) 163 20 het unknown deletion chr6 rs200246988 0.02 - 0.0686 intronic RIMS1 Reference - - - - - - - - RIMS1 chr6 74104495 74104495 - G 3/4(0.57) 81 7 het unknown insertion chr6 - 0.11 - 0.0980 5-UTR DDX43 Reference - - - - - - - - DDX43 chr6 74114366 74114366 T - 16/17(0.52) 800 33 het unknown deletion chr6 rs5877364 0.11 0.137540 0.1299 intronic DDX43 Reference - - - - - - - - DDX43 chr6 74228155 74228158 GACA - 2/3(0.60) 111 5 het frameshift deletion chr6 - - - - exonic EEF1A1 Reference - - - - - - - - EEF1A1,NM_001402,exon6,c.948_951del,p.316_317del chr6 74229052 74229054 CCA - 48/26(0.35) 1175 74 het unknown deletion chr6 rs139835813 0.16 0.039457 0.1495 intronic EEF1A1 Reference - - - - - - - - EEF1A1 chr6 74493616 74493616 T - 0/27(1.00) 572 27 hom unknown deletion chr6 rs11301365 0.43 - 0.3064 intronic CD109 Reference - - - - - - - - CD109 chr6 75795122 75795122 - CA 4/15(0.79) 473 19 het unknown insertion chr6 - - - 0.0662 3-UTR COL12A1 Reference - - - - - - - - COL12A1 chr6 75795122 75795122 - CACA 4/15(0.79) 473 19 het unknown insertion chr6 - - - 0.3284 3-UTR COL12A1 Reference - - - - - - - - COL12A1 chr6 76558260 76558260 - T 18/17(0.49) 455 35 het unknown insertion chr6 - - - 0.2230 intronic MYO6 Reference - - - - - - - - MYO6 chr6 76656979 76656979 T - 21/28(0.57) 1116 49 het unknown deletion chr6 rs3215818 0.59 - 0.3995 intronic IMPG1 Reference - - - - - - - - IMPG1 chr6 79595167 79595167 - CTTAT 0/46(1.00) 2830 46 hom unknown insertion chr6 - - 0.886327 0.4093 intronic IRAK1BP1 Reference - - - - - - - - IRAK1BP1 chr6 80720487 80720487 - TA 4/5(0.56) 248 9 het unknown insertion chr6 rs111611266 - - 0.3554 intronic TTK Reference - - - - - - - - TTK chr6 80878514 80878514 - GGAGGGAGGGAGGGAA 2/16(0.89) 565 18 het unknown insertion chr6 - - - - intronic BCKDHB Reference - - - - - - - - BCKDHB chr6 83842055 83842055 - TCT 33/17(0.34) 879 50 het unknown insertion chr6 rs2307912 - 0.358227 0.2696 intronic DOPEY1 Reference - - - - - - - - DOPEY1 chr6 83842102 83842105 ACAA - 15/16(0.52) 701 31 het unknown deletion chr6 rs71820880 0.27 - 0.1887 intronic DOPEY1 Reference - - - - - - - - DOPEY1 chr6 83898301 83898301 T - 33/23(0.41) 252 56 het unknown deletion chr6 rs35905342 - 0.381709 0.2966 intronic PGM3 Reference - - - - - - - - PGM3 chr6 83938484 83938484 - A 13/14(0.52) 329 27 het unknown insertion chr6 rs112586895 - - 0.2451 intronic ME1 Reference - - - - - - - - ME1 chr6 84284564 84284590 AGAATGGAGGGCAGCCCCCTGGGCTGG - 2/4(0.67) 161 6 het unknown deletion chr6 rs71545874 - - 0.1103 intronic SNAP91 Reference - - - - - - - - SNAP91 chr6 84290138 84290141 AAAG - 0/20(1.00) 1014 20 hom unknown deletion chr6 rs147751300 - - 0.3456 intronic SNAP91 Reference - - - - - - - - SNAP91 chr6 84366385 84366385 - AAG 0/66(1.00) 3070 66 hom unknown insertion chr6 rs71549556 0.96 - 0.4387 intronic SNAP91 Reference - - - - - - - - SNAP91 chr6 86199163 86199166 AAGG - 51/36(0.41) 1688 87 het unknown deletion chr6 rs139534171 0.22 - 0.2353 intronic NT5E Reference - - - - - - - - NT5E chr6 86246716 86246716 - A 8/18(0.69) 451 26 het unknown insertion chr6 rs71551479 0.60 - 0.3627 intronic SNX14 Reference - - - - - - - - SNX14 chr6 86277070 86277070 A - 3/5(0.62) 212 8 het unknown deletion chr6 rs11342876 0.22 - 0.1667 intronic SNX14 Reference - - - - - - - - SNX14 chr6 88108049 88108051 GAT - 1/143(0.99) 3070 144 hom unknown deletion chr6 rs67076383 0.77 - 0.3946 ncRNA_exonic C6orf164 Reference - - - - - - - - C6orf164 chr6 88315742 88315742 A - 7/8(0.53) 230 15 het unknown deletion chr6 rs2307391 0.52 0.601597 0.3456 intronic ORC3 Reference - - - - - - - - ORC3 chr6 89790560 89790563 TTCA - 0/69(1.00) 3070 69 hom unknown deletion chr6 rs66688820 0.80 - 0.4926 5-UTR PNRC1 Reference - - - - - - - - PNRC1 chr6 89814773 89814773 A - 5/10(0.67) 245 15 het unknown deletion chr6 rs35869140 - - 0.3309 intronic SRSF12 Reference - - - - - - - - SRSF12 chr6 89868190 89868190 - T 10/12(0.55) 317 22 het unknown insertion chr6 - 0.28 0.349824 0.2451 intronic PM20D2 Reference - - - - - - - - PM20D2 chr6 89927156 89927156 A - 4/12(0.75) 186 16 het unknown deletion chr6 rs34012805 - - 0.0907 5-UTR GABRR1 Reference - - - - - - - - GABRR1 chr6 90338816 90338816 - T 9/10(0.53) 123 19 het unknown insertion chr6 - - - 0.2083 intronic ANKRD6 Reference - - - - - - - - ANKRD6 chr6 90453493 90453493 C - 0/79(1.00) 2565 79 hom unknown deletion chr6 rs11358713 - - 0.5123 intronic MDN1 Reference - - - - - - - - MDN1 chr6 90463150 90463150 A - 9/8(0.47) 45 17 het unknown deletion chr6 rs34799081 - - 0.3358 intronic MDN1 Reference - - - - - - - - MDN1 chr6 96034881 96034881 - TATG 0/14(1.00) 838 14 hom unknown insertion chr6 rs148967607 - - 0.2034 intronic MANEA Reference - - - - - - - - MANEA chr6 97339275 97339275 - A 8/28(0.78) 545 36 het unknown insertion chr6 rs112829627 - 0.672607 0.4240 intronic NDUFAF4 Reference - - - - - - - - NDUFAF4 chr6 99817419 99817419 - C 9/9(0.50) 473 18 het unknown insertion chr6 rs11437017 0.82 - 0.3750 3-UTR COQ3 Reference - - - - - - - - COQ3 chr6 100010654 100010654 C - 3/4(0.57) 160 7 het unknown deletion chr6 rs3831048 0.42 - 0.2745 intronic CCNC Reference - - - - - - - - CCNC chr6 100395515 100395515 A - 2/3(0.60) 111 5 het unknown deletion chr6 rs67155463 0.77 - 0.3407 intronic MCHR2 Reference - - - - - - - - MCHR2 chr6 101215224 101215224 A - 0/43(1.00) 937 43 hom unknown deletion chr6 rs11345864 - - 0.4608 intronic ASCC3 Reference - - - - - - - - ASCC3 chr6 105219748 105219748 - A 21/15(0.42) 271 36 het unknown insertion chr6 rs142619769 0.24 0.248282 0.2377 intronic HACE1 Reference - - - - - - - - HACE1 chr6 105232460 105232460 - A 7/9(0.56) 135 16 het unknown insertion chr6 rs147456808 - - 0.2304 intronic HACE1 Reference - - - - - - - - HACE1 chr6 105300075 105300076 TG - 6/4(0.40) 170 10 het unknown deletion chr6 - - - 0.0809 intronic HACE1 Reference - - - - - - - - HACE1 chr6 105300103 105300103 - GTGC 12/7(0.37) 296 19 het unknown insertion chr6 - - - 0.1250 intronic HACE1 Reference - - - - - - - - HACE1 chr6 107231882 107231883 TC - 17/3(0.15) 66 20 het unknown deletion chr6 - - - - ncRNA_intronic LOC100422737 Reference - - - - - - - - LOC100422737 chr6 108243120 108243122 AAA - 8/12(0.60) 385 20 het unknown deletion chr6 - - - 0.0833 intronic SEC63 Reference - - - - - - - - SEC63 chr6 108243124 108243125 AC - 12/10(0.45) 418 22 het unknown deletion chr6 rs139413431 0.87 - 0.3382 intronic SEC63 Reference - - - - - - - - SEC63 chr6 108498015 108498016 TG - 2/5(0.71) 215 7 het unknown deletion chr6 rs10563315 0.20 - 0.2451 intronic NR2E1 Reference - - - - - - - - NR2E1 chr6 109752563 109752563 - A 11/7(0.39) 314 18 het unknown insertion chr6 - - - 0.0147 intronic PPIL6 Reference - - - - - - - - PPIL6 chr6 109767631 109767631 - GTGGTCTGGTCAGTGACCTGCCCAGG 57/14(0.20) 598 71 het unknown insertion chr6 rs6149743 - 0.510266 0.2647 intronic MICAL1 Reference - - - - - - - - MICAL1 chr6 109769225 109769228 ACAG - 12/5(0.29) 186 17 het unknown deletion chr6 rs72092669 0.38 0.288745 0.2451 intronic MICAL1 Reference - - - - - - - - MICAL1 chr6 109850199 109850201 AAC - 0/4(1.00) 127 4 het unknown deletion chr6 rs201441562 0.84 0.543398 0.0809 intronic AK9 Reference - - - - - - - - AK9 chr6 109850200 109850201 AC - 0/4(1.00) 127 4 het unknown deletion chr6 rs140788861 0.84 - 0.3799 intronic AK9 Reference - - - - - - - - AK9 chr6 109954065 109954065 - ATAG 1/4(0.80) 197 5 het unknown insertion chr6 rs146518695 - - 0.1838 3-UTR AK9 Reference - - - - - - - - AK9 chr6 110048489 110048489 - T 9/11(0.55) 142 20 het unknown insertion chr6 rs113252518 - - 0.3358 intronic FIG4 Reference - - - - - - - - FIG4 chr6 110053824 110053824 - T 6/7(0.54) 54 13 het unknown insertion chr6 - - 0.686238 0.3015 intronic FIG4 Reference - - - - - - - - FIG4 chr6 110644112 110644112 - G 0/25(1.00) 1531 25 hom unknown insertion chr6 rs112341783 - - 0.4363 intronic METTL24 Reference - - - - - - - - METTL24 chr6 110797703 110797703 C - 2/4(0.67) 124 6 het unknown deletion chr6 rs199992614 0.64 - 0.2868 intronic SLC22A16 Reference - - - - - - - - SLC22A16 chr6 110797713 110797713 - CT 3/6(0.67) 310 9 het unknown insertion chr6 - - - 0.2328 intronic SLC22A16 Reference - - - - - - - - SLC22A16 chr6 110953163 110953165 TTA - 29/17(0.37) 761 46 het unknown deletion chr6 rs139552525 0.35 - 0.3088 intronic CDK19 Reference - - - - - - - - CDK19 chr6 111280471 111280471 T - 0/13(1.00) 562 13 hom unknown deletion chr6 rs59470162 0.39 0.051118 0.3015 intronic GTF3C6 Reference - - - - - - - - GTF3C6 chr6 111281585 111281585 T - 0/28(1.00) 596 28 hom unknown deletion chr6 rs11354415 - 0.233706 0.3897 intronic GTF3C6 Reference - - - - - - - - GTF3C6 chr6 111281880 111281880 - TAAATAT 0/26(1.00) 1530 26 hom unknown insertion chr6 rs113596926 - 0.217836 0.3358 intronic GTF3C6 Reference - - - - - - - - GTF3C6 chr6 112438913 112438913 A - 0/55(1.00) 2995 55 hom unknown deletion chr6 rs3216857 0.39 0.132588 0.3333 intronic LAMA4 Reference - - - - - - - - LAMA4 chr6 112451503 112451504 TG - 1/2(0.67) 61 3 het unknown deletion chr6 - - - 0.0074 intronic LAMA4 Reference - - - - - - - - LAMA4 chr6 116441229 116441229 - GGG 0/26(1.00) 1594 26 hom unknown insertion chr6 - - 0.903275 0.5172 3-UTR COL10A1 Reference - - - - - - - - COL10A1 chr6 116600465 116600465 - CAC 0/127(1.00) 3070 127 hom nonframeshift insertion chr6 rs78371471 - 0.728914 0.6471 exonic TSPYL1 Reference - - - - - - - - TSPYL1,NM_003309,exon1,c.528_529insGTG,p.K177delinsVK chr6 116968547 116968547 C - 4/11(0.73) 427 15 het unknown deletion chr6 rs11325619 0.10 - 0.0907 intronic ZUFSP Reference - - - - - - - - ZUFSP chr6 116981828 116981828 C - 6/5(0.45) 203 11 het unknown deletion chr6 rs3839370 0.30 - 0.2206 intronic ZUFSP Reference - - - - - - - - ZUFSP chr6 117002275 117002277 CCG - 2/7(0.78) 306 9 het unknown deletion chr6 - - - 0.2990 upstream KPNA5 Reference - - - - - - - - KPNA5 chr6 117246576 117246576 - A 28/33(0.54) 1104 61 het unknown insertion chr6 - 0.50 0.351997 0.3995 intronic RFX6 Reference - - - - - - - - RFX6 chr6 117681444 117681444 - ACAC het unknown insertion chr6 - - - - intronic ROS1 Reference - - - - - - - - ROS1 chr6 117681437 117681444 ACACACAC - 3/8(0.73) 345 11 het unknown deletion chr6 - - - 0.0245 intronic ROS1 Reference - - - - - - - - ROS1 chr6 119245393 119245393 A - 12/5(0.29) 184 17 het unknown deletion chr6 rs67476232 0.22 - 0.1740 intronic MCM9 Reference - - - - - - - - MCM9 chr6 122720813 122720813 - GCCGTAGCTGCC 21/31(0.60) 1658 52 het unknown insertion chr6 - - - 0.1520 5-UTR HSF2 Reference - - - - - - - - HSF2 chr6 122749156 122749156 - TC 12/11(0.48) 583 23 het unknown insertion chr6 rs150441936 - 0.130400 0.2475 intronic HSF2 Reference - - - - - - - - HSF2 chr6 122767818 122767819 CA - 6/3(0.33) 99 9 het unknown deletion chr6 rs79756345 0.13 - 0.0980 intronic SERINC1 Reference - - - - - - - - SERINC1 chr6 123703101 123703101 - CT 1/3(0.75) 137 4 het unknown insertion chr6 - - - 0.2426 intronic TRDN Reference - - - - - - - - TRDN chr6 125234008 125234008 - A 4/4(0.50) 48 8 het unknown insertion chr6 rs139107311 0.09 0.082739 0.0980 ncRNA_intronic STL Reference - - - - - - - - STL chr6 125366290 125366290 A - 18/8(0.31) 42 26 het unknown deletion chr6 rs34249175 - - 0.2672 intronic RNF217 Reference - - - - - - - - RNF217 chr6 125623268 125623268 - TCCTCT 6/11(0.65) 602 17 het unknown insertion chr6 - - - 0.2598 5-UTR HDDC2 Reference - - - - - - - - HDDC2 chr6 128321318 128321318 - T 4/4(0.50) 48 8 het unknown insertion chr6 rs74352259 - - 0.2892 intronic PTPRK Reference - - - - - - - - PTPRK chr6 129380843 129380843 - G 5/7(0.58) 365 12 het unknown insertion chr6 rs143205326 - - 0.1765 intronic LAMA2 Reference - - - - - - - - LAMA2 chr6 129633971 129633972 TG - 0/29(1.00) 1559 29 hom unknown deletion chr6 rs79017110 0.41 0.075620 0.3186 intronic LAMA2 Reference - - - - - - - - LAMA2 chr6 130370404 130370404 - CT 0/72(1.00) 3070 72 hom unknown insertion chr6 rs75575024 0.73 0.520208 0.4069 intronic L3MBTL3 Reference - - - - - - - - L3MBTL3 chr6 130370732 130370733 TG - 0/32(1.00) 1724 32 hom unknown deletion chr6 rs142539365 0.85 - 0.3824 intronic L3MBTL3 Reference - - - - - - - - L3MBTL3 chr6 130536495 130536495 T - 1/64(0.98) 1388 65 hom unknown deletion chr6 rs34071457 - - 0.3431 intronic SAMD3 Reference - - - - - - - - SAMD3 chr6 131276467 131276467 A - 0/33(1.00) 813 33 hom unknown deletion chr6 rs34763200 - 0.433147 0.4828 intronic EPB41L2 Reference - - - - - - - - EPB41L2 chr6 131904704 131904704 - A 0/17(1.00) 918 17 hom unknown insertion chr6 rs75924806 - - 0.4093 intronic ARG1;MED23 Reference - - - - - - - - MED23;ARG1 chr6 131929309 131929309 - C 4/7(0.64) 345 11 het unknown insertion chr6 rs139450469 0.49 - 0.3235 intronic MED23 Reference - - - - - - - - MED23 chr6 131936325 131936327 TTT - 9/10(0.53) 271 19 het unknown deletion chr6 rs139719926 0.32 - 0.2525 intronic MED23 Reference - - - - - - - - MED23 chr6 131948816 131948816 - AA 28/20(0.42) 155 48 het unknown insertion chr6 - - - 0.1275 intronic MED23 Reference - - - - - - - - MED23 chr6 132203471 132203471 T - 30/17(0.36) 547 47 het unknown deletion chr6 rs1799774 0.36 - 0.1299 intronic ENPP1 Reference - - - - - - - - ENPP1 chr6 132207964 132207964 - TCT 19/14(0.42) 742 33 het unknown insertion chr6 rs199552814 - - 0.3775 intronic ENPP1 Reference - - - - - - - - ENPP1 chr6 133138068 133138069 TT - 15/14(0.48) 52 29 het unknown deletion chr6 rs34924584 - - 0.2426 intronic RPS12 Reference - - - - - - - - RPS12 chr6 135265198 135265198 - TTTTG 1/6(0.86) 317 7 het unknown insertion chr6 rs146661388 0.29 - 0.1936 intronic ALDH8A1 Reference - - - - - - - - ALDH8A1 chr6 135318227 135318227 A - 12/10(0.45) 122 22 het unknown deletion chr6 rs72155156 - - 0.2255 intronic HBS1L Reference - - - - - - - - HBS1L chr6 135524520 135524520 - TGG 23/5(0.18) 186 28 het unknown insertion chr6 rs56386066 0.39 - 0.2696 intronic MYB Reference - - - - - - - - MYB chr6 136359280 136359280 - G 43/65(0.60) 2592 108 het unknown insertion chr6 rs77271941 0.54 0.273075 0.4338 intronic PDE7B Reference - - - - - - - - PDE7B chr6 136472185 136472185 - A 19/13(0.41) 386 32 het unknown insertion chr6 rs77310823 0.53 - 0.3358 intronic PDE7B Reference - - - - - - - - PDE7B chr6 136878752 136878752 T - 11/22(0.67) 143 33 het unknown deletion chr6 - - - 0.1593 3-UTR MAP3K5 Reference - - - - - - - - MAP3K5 chr6 136880521 136880521 C - 2/3(0.60) 111 5 het unknown deletion chr6 - - - 0.1176 intronic MAP3K5 Reference - - - - - - - - MAP3K5 chr6 136880523 136880527 AAAAC - 2/3(0.60) 111 5 het unknown deletion chr6 - - - 0.1250 intronic MAP3K5 Reference - - - - - - - - MAP3K5 chr6 136922357 136922357 - T 14/7(0.33) 118 21 het unknown insertion chr6 rs11434015 0.31 - 0.2451 intronic MAP3K5 Reference - - - - - - - - MAP3K5 chr6 137524870 137524870 - A 29/13(0.31) 34 42 het unknown insertion chr6 - - - 0.2304 intronic IFNGR1 Reference - - - - - - - - IFNGR1 chr6 138195962 138195964 CTC - 0/22(1.00) 1172 22 hom unknown deletion chr6 rs71670547 0.83 0.482508 0.5245 intronic TNFAIP3 Reference - - - - - - - - TNFAIP3 chr6 138539183 138539183 - G 53/52(0.50) 2583 105 het frameshift insertion chr6 rs3841283 0.38 0.097045 0.3260 exonic PBOV1 Reference - - - - - - - - PBOV1,NM_021635,exon1,c.349dupC,p.L117fs chr6 139094629 139094629 - GG 32/20(0.38) 434 52 het unknown insertion chr6 - - - 0.1152 intronic LOC100507462 Reference - - - - - - - - LOC100507462 chr6 139094893 139094893 T - 51/56(0.52) 2246 107 het frameshift deletion chr6 rs77696415 - - 0.0147 exonic CCDC28A Reference - - - - - - - - CCDC28A,NM_015439,exon1,c.82delT,p.L28fs chr6 139581356 139581356 - AAAT 5/3(0.38) 125 8 het unknown insertion chr6 - - - 0.0515 intronic TXLNB Reference - - - - - - - - TXLNB chr6 139598062 139598062 A - 10/9(0.47) 108 19 het unknown deletion chr6 rs66961117 - 0.455715 0.1814 intronic TXLNB Reference - - - - - - - - TXLNB chr6 142491463 142491463 - G 0/12(1.00) 713 12 hom unknown insertion chr6 rs72556186 - 0.999920 0.3627 intronic VTA1 Reference - - - - - - - - VTA1 chr6 142510677 142510680 TATT - 13/23(0.64) 1121 36 het unknown deletion chr6 rs3830800 0.14 0.391419 0.1348 intronic VTA1 Reference - - - - - - - - VTA1 chr6 143784032 143784032 T - 0/50(1.00) 1424 50 hom unknown deletion chr6 rs3830767 - - 0.3407 intronic PEX3 Reference - - - - - - - - PEX3 chr6 144165810 144165810 T - 13/16(0.55) 110 29 het unknown deletion chr6 - - - 0.2990 intronic LTV1 Reference - - - - - - - - LTV1 chr6 145021194 145021196 TTA - 21/3(0.12) 55 24 het unknown deletion chr6 rs140389119 - 0.173216 - intronic UTRN Reference - - - - - - - - UTRN chr6 145103003 145103012 ATGTAATGTA - 8/10(0.56) 458 18 het unknown deletion chr6 - - - 0.0147 intronic UTRN Reference - - - - - - - - UTRN chr6 145120719 145120724 CTACTA - 11/12(0.52) 553 23 het unknown deletion chr6 rs71687172 0.45 - 0.3039 intronic UTRN Reference - - - - - - - - UTRN chr6 146207502 146207502 - T 16/18(0.53) 781 34 het unknown insertion chr6 - 0.34 0.458784 0.2941 ncRNA_exonic LOC100507557 Reference - - - - - - - - LOC100507557 chr6 146480749 146480750 TC - 0/3(1.00) 105 3 het unknown deletion chr6 - - - - intronic GRM1 Reference - - - - - - - - GRM1 chr6 146480741 146480750 TCTCTCTCTC - 0/3(1.00) 105 3 het unknown deletion chr6 rs72003353 - - 0.0270 intronic GRM1 Reference - - - - - - - - GRM1 chr6 146678953 146678953 - T 4/8(0.67) 334 12 het unknown insertion chr6 rs144943258 0.24 - 0.1887 intronic GRM1 Reference - - - - - - - - GRM1 chr6 146975457 146975458 TA - 2/3(0.60) 69 5 het unknown deletion chr6 rs71778473 - - 0.2868 intronic ADGB Reference - - - - - - - - ADGB chr6 147054241 147054241 - TTAATGTAC 6/5(0.45) 241 11 het unknown insertion chr6 rs146394886 - 0.504228 0.2843 intronic ADGB Reference - - - - - - - - ADGB chr6 147054410 147054410 - A 12/6(0.33) 283 18 het unknown insertion chr6 - 0.65 0.531842 0.3284 intronic ADGB Reference - - - - - - - - ADGB chr6 147073640 147073642 ATA - 7/14(0.67) 669 21 het unknown deletion chr6 rs140827988 0.22 0.242327 0.1789 intronic ADGB Reference - - - - - - - - ADGB chr6 147635318 147635318 - AC 1/6(0.86) 317 7 het unknown insertion chr6 - - - 0.2745 intronic STXBP5 Reference - - - - - - - - STXBP5 chr6 149691292 149691292 T - 6/4(0.40) 116 10 het unknown deletion chr6 rs35974009 0.51 - 0.3186 intronic TAB2 Reference - - - - - - - - TAB2 chr6 149780737 149780737 - ACTA 15/17(0.53) 934 32 het unknown insertion chr6 rs140859 0.15 - 0.1789 intronic ZC3H12D Reference - - - - - - - - ZC3H12D chr6 150067783 150067786 CAGT - 35/22(0.39) 1004 57 het unknown deletion chr6 rs199612881 0.02 - 0.0270 upstream NUP43 Reference - - - - - - - - NUP43 chr6 150123317 150123317 T - 0/15(1.00) 221 15 hom unknown deletion chr6 rs11297063 - - 0.3995 intronic PCMT1 Reference - - - - - - - - PCMT1 chr6 150244217 150244231 GTCTGAATGCAGCCC - 0/41(1.00) 2205 41 hom unknown deletion chr6 rs71656790 0.53 - 0.3627 upstream RAET1G Reference - - - - - - - - RAET1G chr6 151125724 151125724 C - 22/17(0.44) 581 39 het unknown deletion chr6 rs35118684 0.55 0.494169 0.2770 intronic PLEKHG1 Reference - - - - - - - - PLEKHG1 chr6 151917830 151917830 - T 5/4(0.44) 138 9 het unknown insertion chr6 rs145300000 - - 0.0760 intronic CCDC170 Reference - - - - - - - - CCDC170 chr6 152265282 152265282 - T 0/31(1.00) 825 31 hom unknown insertion chr6 rs55740371 0.34 - 0.3015 intronic ESR1 Reference - - - - - - - - ESR1 chr6 152460864 152460864 - AA 3/3(0.50) 111 6 het unknown insertion chr6 - - - 0.1544 intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152539573 152539573 A - 2/26(0.93) 304 28 hom unknown deletion chr6 rs35809482 - - 0.3652 intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152558111 152558111 - A 7/12(0.63) 329 19 het unknown insertion chr6 rs36215566 - - 0.2255 intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152646994 152646994 A - 4/3(0.43) 49 7 het unknown deletion chr6 rs3215013 0.84 - 0.2941 intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152685814 152685814 - A 8/3(0.27) 116 11 het unknown insertion chr6 - - - 0.0074 intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152685821 152685821 - A 8/3(0.27) 116 11 het unknown insertion chr6 rs138395598 - - 0.1838 intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152772423 152772423 C - 3/3(0.50) 118 6 het unknown deletion chr6 - - - - intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 152793575 152793575 - G 17/5(0.23) 191 22 het unknown insertion chr6 - - - - intronic SYNE1 Reference - - - - - - - - SYNE1 chr6 153332927 153332931 ATAAT - 5/5(0.50) 206 10 het unknown deletion chr6 rs34837755 0.37 0.471205 0.2843 intronic RGS17 Reference - - - - - - - - RGS17 chr6 155129785 155129788 CTTT - 0/62(1.00) 3070 62 hom unknown deletion chr6 rs66499928 0.91 0.555032 0.4461 intronic SCAF8 Reference - - - - - - - - SCAF8 chr6 155574283 155574289 TGCCTTT - 8/5(0.38) 197 13 het unknown deletion chr6 rs200237677 - - 0.0294 intronic TIAM2 Reference - - - - - - - - TIAM2 chr6 155635281 155635281 - TTC 5/3(0.38) 125 8 het unknown insertion chr6 rs79805895 0.82 - 0.3407 intronic TFB1M Reference - - - - - - - - TFB1M chr6 155732616 155732616 - T 5/5(0.50) 87 10 het unknown insertion chr6 rs77110359 - - 0.1691 intronic NOX3 Reference - - - - - - - - NOX3 chr6 158499097 158499097 - T 8/3(0.27) 106 11 het unknown insertion chr6 rs3831094 0.53 - 0.4069 intronic SYNJ2 Reference - - - - - - - - SYNJ2 chr6 158502669 158502669 T - 1/3(0.75) 114 4 het unknown deletion chr6 rs56991071 - - 0.1446 intronic SYNJ2 Reference - - - - - - - - SYNJ2 chr6 159047838 159047847 ACTGACCCAC - 18/12(0.40) 72 30 het unknown deletion chr6 - - - 0.0025 intronic TMEM181 Reference - - - - - - - - TMEM181 chr6 159047837 159047847 AACTGACCCAC AACTGACCCATGC het unknown substitution chr6 - - - - intronic TMEM181 Reference - - - - - - - - TMEM181 chr6 159047851 159047852 CA - 19/5(0.21) 89 24 het unknown deletion chr6 - - - - intronic TMEM181 Reference - - - - - - - - TMEM181 chr6 159047859 159047859 C - 15/3(0.17) 69 18 het unknown deletion chr6 - - - - intronic TMEM181 Reference - - - - - - - - TMEM181 chr6 159166698 159166698 - T 7/5(0.42) 79 12 het unknown insertion chr6 rs199688801 0.01 0.055919 0.0245 intronic SYTL3 Reference - - - - - - - - SYTL3 chr6 159187878 159187879 AC - 7/7(0.50) 304 14 het unknown deletion chr6 rs5881286 0.18 - 0.2328 3-UTR EZR Reference - - - - - - - - EZR chr6 159192214 159192214 - GG 7/6(0.46) 280 13 het unknown insertion chr6 rs56373854 0.17 - 0.2353 intronic EZR Reference - - - - - - - - EZR chr6 159210663 159210666 TTTC - 18/10(0.36) 429 28 het unknown deletion chr6 rs140055516 0.17 - 0.2426 intronic EZR Reference - - - - - - - - EZR chr6 159669951 159669951 - TC 3/7(0.70) 346 10 het unknown insertion chr6 - - - 0.2255 intronic FNDC1 Reference - - - - - - - - FNDC1 chr6 159669953 159669953 - TC 3/9(0.75) 425 12 het unknown insertion chr6 - - - 0.2279 intronic FNDC1 Reference - - - - - - - - FNDC1 chr6 160184138 160184139 AC - 16/3(0.16) 69 19 het unknown deletion chr6 rs112953742 - - - intronic ACAT2 Reference - - - - - - - - ACAT2 chr6 160430199 160430199 - A 14/6(0.30) 32 20 het unknown insertion chr6 - - - 0.1005 intronic IGF2R Reference - - - - - - - - IGF2R chr6 160489096 160489099 GGGT - 1/5(0.83) 211 6 het unknown deletion chr6 - - - 0.0539 intronic IGF2R Reference - - - - - - - - IGF2R chr6 160489216 160489217 AG - 44/40(0.48) 1916 84 het unknown deletion chr6 rs8191867 0.25 - 0.2647 intronic IGF2R Reference - - - - - - - - IGF2R chr6 160560898 160560905 TGGTAAGT - 0/52(1.00) 2805 52 hom frameshift deletion chr6 rs113569197 0.75 0.606588 0.5686 exonic SLC22A1 Reference - - - - - - - - SLC22A1,NM_003057,exon7,c.1275_1276del,p.425_426del;SLC22A1,NM_153187,exon7,c.1275_1276del,p.425_426del chr6 160645921 160645921 - T 1/25(0.96) 748 26 hom unknown insertion chr6 rs3219197 - - 0.3554 intronic SLC22A2 Reference - - - - - - - - SLC22A2 chr6 160666660 160666660 - C 0/19(1.00) 1093 19 hom unknown insertion chr6 rs11422119 0.82 - 0.3554 intronic SLC22A2 Reference - - - - - - - - SLC22A2 chr6 160868688 160868688 C - 6/5(0.45) 141 11 het unknown deletion chr6 rs3918287 0.47 - 0.3480 intronic SLC22A3 Reference - - - - - - - - SLC22A3 chr6 160966408 160966408 - T 8/9(0.53) 471 17 het unknown insertion chr6 rs199575321 - - 0.2377 intronic LPA Reference - - - - - - - - LPA chr6 161016667 161016668 TT - 3/2(0.40) 34 5 het unknown deletion chr6 rs34747443 0.47 - 0.3113 intronic LPA Reference - - - - - - - - LPA chr6 161519351 161519353 CTG - 1/72(0.99) 3070 73 het nonframeshift deletion chr6 rs5881391 - - 0.5784 exonic MAP3K4 Reference - - - - - - - - MAP3K4,NM_005922,exon17,c.3566_3568del,p.1189_1190del chr6 161532856 161532856 T - 0/164(1.00) 3070 164 hom unknown deletion chr6 rs35961625 0.99 - 0.5221 intronic MAP3K4 Reference - - - - - - - - MAP3K4 chr6 161970151 161970154 TGTG - 16/9(0.36) 382 25 het unknown deletion chr6 rs71694927 - - 0.2917 intronic PARK2 Reference - - - - - - - - PARK2 chr6 163235167 163235167 - C 37/37(0.50) 1931 74 het unknown insertion chr6 rs201609837 0.27 0.061921 0.2966 intronic PACRG Reference - - - - - - - - PACRG chr6 165863695 165863695 - A 0/70(1.00) 3070 70 hom unknown insertion chr6 rs74556251 - - 0.4436 intronic PDE10A Reference - - - - - - - - PDE10A chr6 165895948 165895948 - A 15/9(0.38) 454 24 het unknown insertion chr6 rs112151279 0.27 - 0.2083 intronic PDE10A Reference - - - - - - - - PDE10A chr6 166075799 166075801 TCC - 13/3(0.19) 78 16 het unknown deletion chr6 - - - - upstream PDE10A Reference - - - - - - - - PDE10A chr6 166889332 166889333 AG - 0/43(1.00) 2332 43 hom unknown deletion chr6 rs3830731 0.52 0.374139 0.4877 intronic RPS6KA2 Reference - - - - - - - - RPS6KA2 chr6 166921963 166921963 C - 7/4(0.36) 98 11 het unknown deletion chr6 rs3833956 0.75 - 0.3578 intronic RPS6KA2 Reference - - - - - - - - RPS6KA2 chr6 167752312 167752312 - TTCC 2/3(0.60) 136 5 het unknown insertion chr6 - - - 0.0833 intronic TTLL2 Reference - - - - - - - - TTLL2 chr6 167752356 167752358 TTT - 13/3(0.19) 35 16 het unknown deletion chr6 - - - - intronic TTLL2 Reference - - - - - - - - TTLL2 chr6 168275998 168275998 - T 15/11(0.42) 190 26 het unknown insertion chr6 - - - 0.0343 intronic MLLT4 Reference - - - - - - - - MLLT4 chr6 168348505 168348505 T - 40/26(0.39) 356 66 het unknown deletion chr6 rs35550837 - - 0.4118 intronic MLLT4 Reference - - - - - - - - MLLT4 chr6 168707947 168707947 C - 5/2(0.29) 32 7 het unknown deletion chr6 rs3832456 0.15 - 0.1373 3-UTR DACT2 Reference - - - - - - - - DACT2 chr6 169008823 169008823 C - 40/66(0.62) 2067 106 het unknown deletion chr6 rs3832407 0.27 - 0.2819 intronic SMOC2 Reference - - - - - - - - SMOC2 chr6 169617935 169617935 A - 0/16(1.00) 322 16 hom unknown deletion chr6 rs58423957 - - 0.3113 intronic THBS2 Reference - - - - - - - - THBS2 chr6 169619933 169619933 - TTCCTTCC 0/20(1.00) 1216 20 hom unknown insertion chr6 rs113367461 - 0.689583 0.3015 intronic THBS2 Reference - - - - - - - - THBS2 chr6 169620451 169620453 AAG - 1/41(0.98) 2145 42 hom unknown deletion chr6 rs140725844 0.14 0.215335 0.2010 intronic THBS2 Reference - - - - - - - - THBS2 chr6 170065759 170065759 - A 18/15(0.45) 805 33 het unknown insertion chr6 rs74852386 0.28 - 0.2181 intronic WDR27 Reference - - - - - - - - WDR27 chr6 170627660 170627695 CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA - 377/106(0.22) 3070 483 het nonframeshift deletion chr6 - - - 0.0172 exonic FAM120B Reference - - - - - - - - FAM120B,NM_032448,exon2,c.1182_1217del,p.394_406del;FAM120B,NM_001286380,exon2,c.1251_1286del,p.417_429del;FAM120B,NM_001286379,exon2,c.1218_1253del,p.406_418del chr6 170639957 170639957 C - 15/8(0.35) 233 23 het unknown deletion chr6 rs144883719 0.06 - 0.0882 intronic FAM120B Reference - - - - - - - - FAM120B chr6 170667083 170667084 TG - 1/3(0.75) 114 4 het unknown deletion chr6 rs140273460 0.02 - 0.0515 intronic FAM120B Reference - - - - - - - - FAM120B chr6 170871038 170871040 CAA - 19/29(0.60) 1393 48 het nonframeshift deletion chr6 rs71815788 - - 0.3284 exonic TBP Reference - - - - - - - - TBP,NM_003194,exon3,c.214_216del,p.72_72del;TBP,NM_001172085,exon2,c.154_156del,p.52_52del chr6 170871047 170871055 CAGCAGCAG - 10/14(0.58) 604 24 het nonframeshift deletion chr6 - - - 0.1176 exonic TBP Reference - - - - - - - - TBP,NM_003194,exon3,c.223_231del,p.75_77del;TBP,NM_001172085,exon2,c.163_171del,p.55_57del chr6 170887258 170887258 - C 2/3(0.60) 124 5 het unknown insertion chr6 - 0.80 - 0.2426 intronic PDCD2 Reference - - - - - - - - PDCD2 chr6 170892483 170892483 - T 13/15(0.54) 616 28 het unknown insertion chr6 rs17860837 0.79 - 0.3333 intronic PDCD2 Reference - - - - - - - - PDCD2 chr6 170892919 170892919 - ACTC 3/4(0.57) 191 7 het unknown insertion chr6 rs113114915 - - 0.3431 intronic PDCD2 Reference - - - - - - - - PDCD2 chr7 891184 891184 - GAT 29/25(0.46) 1371 54 het unknown insertion chr7 rs10628483 - - 0.4387 intronic SUN1 Reference - - - - - - - - SUN1 chr7 940258 940258 - GGCAAAGGCA 9/10(0.53) 532 19 het unknown insertion chr7 rs113839920 - - 0.3039 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 944994 945005 AGGGAAAGGGAA - 8/4(0.33) 146 12 het unknown deletion chr7 - - - 0.0392 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945008 945008 - A 9/3(0.25) 113 12 het unknown insertion chr7 - - - 0.1985 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945029 945029 A - 11/4(0.27) 136 15 het unknown deletion chr7 - - - 0.0490 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945048 945048 G - 11/4(0.27) 94 15 het unknown deletion chr7 - - - 0.1667 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945076 945076 G - 10/4(0.29) 97 14 het unknown deletion chr7 rs77473805 - - 0.1912 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945084 945084 G - 8/3(0.27) 62 11 het unknown deletion chr7 - - - 0.2083 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945197 945197 A - 15/3(0.17) 72 18 het unknown deletion chr7 rs199831743 - - 0.0515 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945204 945204 A - 15/3(0.17) 72 18 het unknown deletion chr7 rs141235179 - - 0.1422 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945218 945218 A - 20/3(0.13) 57 23 het unknown deletion chr7 - - - 0.1348 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945232 945232 A - 21/4(0.16) 100 25 het unknown deletion chr7 - - - 0.1593 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945259 945259 - A 21/3(0.12) 76 24 het unknown insertion chr7 - - - 0.0858 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945272 945272 - A 14/8(0.36) 397 22 het unknown insertion chr7 - - - 0.2868 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945285 945285 - A 15/4(0.21) 178 19 het unknown insertion chr7 rs141647614 - - 0.2525 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 945312 945312 - A 15/5(0.25) 211 20 het unknown insertion chr7 - - - 0.2206 intronic ADAP1 Reference - - - - - - - - ADAP1 chr7 1023995 1023995 - G 23/13(0.36) 374 36 het unknown insertion chr7 rs34743661 0.68 - 0.4314 intronic CYP2W1 Reference - - - - - - - - CYP2W1 chr7 1098234 1098236 AGA - 11/7(0.39) 278 18 het unknown deletion chr7 rs150754201 0.22 - 0.2181 3-UTR GPR146 Reference - - - - - - - - GPR146 chr7 1132825 1132826 TC - 54/49(0.48) 2356 103 het unknown deletion chr7 rs141766920 0.21 - 0.2377 3-UTR GPER1 Reference - - - - - - - - GPER1 chr7 1586653 1586653 - GCC 6/6(0.50) 302 12 het nonframeshift insertion chr7 rs112463195 0.66 - 0.4877 exonic TMEM184A Reference - - - - - - - - TMEM184A,NM_001097620,exon9,c.1176_1177insGGC,p.S393delinsGS chr7 2515382 2515382 - C 0/106(1.00) 3070 106 hom unknown insertion chr7 rs5881927 - 0.999914 0.5221 intergenic CHST12;LFNG Reference - - - - - - - - LFNG(dist=36781);CHST12(dist=41166) chr7 2552881 2552881 - GATG 0/69(1.00) 3070 69 hom frameshift insertion chr7 rs34637446 - - 0.3064 exonic LFNG Reference - - - - - - - - LFNG,NM_001166355,exon2,c.138_139insGATG,p.T46fs chr7 2582153 2582153 - CCCCAGCCTCCCGGGTGT 0/32(1.00) 1780 32 hom unknown insertion chr7 rs138295649 - - 0.4240 intronic BRAT1 Reference - - - - - - - - BRAT1 chr7 2618070 2618070 - A 71/72(0.50) 3070 143 het unknown insertion chr7 - 0.15 0.401811 0.1887 intronic IQCE Reference - - - - - - - - IQCE chr7 2625658 2625658 C - 2/7(0.78) 319 9 het unknown deletion chr7 rs5881929 0.51 - 0.2574 intronic IQCE Reference - - - - - - - - IQCE chr7 2626039 2626048 CAGGGAATGG - 10/6(0.38) 244 16 het unknown deletion chr7 rs3217437 0.51 0.778253 0.3309 intronic IQCE Reference - - - - - - - - IQCE chr7 2627579 2627580 AG - 8/10(0.56) 458 18 het unknown deletion chr7 rs150431779 - 0.391457 0.1691 intronic IQCE Reference - - - - - - - - IQCE chr7 2699524 2699524 - CT 19/3(0.14) 82 22 het unknown insertion chr7 - - - - intronic TTYH3 Reference - - - - - - - - TTYH3 chr7 2699687 2699687 - G 0/48(1.00) 2819 48 hom unknown insertion chr7 rs76260255 - - 0.3873 intronic TTYH3 Reference - - - - - - - - TTYH3 chr7 2773035 2773035 - AT 0/64(1.00) 3070 64 hom unknown insertion chr7 rs34004158 - 0.721885 0.5221 intronic GNA12 Reference - - - - - - - - GNA12 chr7 4153179 4153179 A - 7/6(0.46) 178 13 het unknown deletion chr7 rs3215346 0.71 - 0.3971 intronic SDK1 Reference - - - - - - - - SDK1 chr7 4871879 4871879 - AT 0/49(1.00) 3043 49 hom unknown insertion chr7 rs3830494 - 0.423442 0.3431 intronic RADIL Reference - - - - - - - - RADIL chr7 5334472 5334472 - CT 20/8(0.29) 379 28 het unknown insertion chr7 rs10623123 - 0.531650 0.4363 intronic SLC29A4 Reference - - - - - - - - SLC29A4 chr7 5336856 5336867 CCCTTCTCTGTC - 11/9(0.45) 368 20 het unknown deletion chr7 rs137903684 - 0.463112 0.4853 intronic SLC29A4 Reference - - - - - - - - SLC29A4 chr7 5352791 5352793 GCT - 5/3(0.38) 102 8 het nonframeshift deletion chr7 - - 0.030581 - exonic TNRC18 Reference - - - - - - - - TNRC18,NM_001080495,exon27,c.7729_7731del,p.2577_2577del chr7 5922100 5922100 - T 4/134(0.97) 3070 138 hom unknown insertion chr7 rs35069590 0.45 0.222125 0.4216 intronic OCM Reference - - - - - - - - OCM chr7 5977642 5977642 - CA 3/4(0.57) 191 7 het unknown insertion chr7 rs146186494 0.24 - 0.2475 intronic RSPH10B;RSPH10B2 Reference - - - - - - - - RSPH10B;RSPH10B2 chr7 6066057 6066057 - C 0/98(1.00) 3070 98 hom unknown insertion chr7 rs34019419 - - 0.4926 intronic EIF2AK1 Reference - - - - - - - - EIF2AK1 chr7 6080854 6080854 A - 4/9(0.69) 56 13 het unknown deletion chr7 rs34743814 - - 0.3897 intronic EIF2AK1 Reference - - - - - - - - EIF2AK1 chr7 6227405 6227406 CT - 16/12(0.43) 539 28 het unknown deletion chr7 rs149840186 0.30 0.036581 0.2525 intronic CYTH3 Reference - - - - - - - - CYTH3 chr7 6450052 6450053 CT - 33/38(0.54) 1845 71 het unknown deletion chr7 rs67893418 0.05 0.065016 0.1054 intronic DAGLB Reference - - - - - - - - DAGLB chr7 6485740 6485740 - A 15/7(0.32) 47 22 het unknown insertion chr7 - - - 0.0025 intronic DAGLB Reference - - - - - - - - DAGLB chr7 8181555 8181555 - CA 1/157(0.99) 3070 158 hom unknown insertion chr7 - 0.98 - 0.3897 intronic ICA1 Reference - - - - - - - - ICA1 chr7 8196568 8196585 AAAAAAAAAAAAAAAAAG - 9/59(0.87) 2843 68 het unknown deletion chr7 rs200840693 - - 0.3799 intronic ICA1 Reference - - - - - - - - ICA1 chr7 12370703 12370703 T - 0/11(1.00) 360 11 hom unknown deletion chr7 rs3217131 - - 0.2525 3-UTR VWDE Reference - - - - - - - - VWDE chr7 12375667 12375667 - A 0/12(1.00) 713 12 hom unknown insertion chr7 - - - 0.2328 intronic VWDE Reference - - - - - - - - VWDE chr7 14216345 14216345 - AGACT 7/17(0.71) 959 24 het unknown insertion chr7 rs3216996 - - 0.2549 3-UTR DGKB Reference - - - - - - - - DGKB chr7 14517650 14517650 - AC 3/3(0.50) 131 6 het unknown insertion chr7 rs3839747 - - 0.1544 intronic DGKB Reference - - - - - - - - DGKB chr7 14712794 14712794 G - 17/6(0.26) 170 23 het unknown deletion chr7 rs34768816 0.87 - 0.3480 intronic DGKB Reference - - - - - - - - DGKB chr7 14775822 14775822 G - 11/15(0.58) 580 26 het unknown deletion chr7 rs139628753 0.54 - 0.2941 intronic DGKB Reference - - - - - - - - DGKB chr7 14797180 14797180 - AC 2/3(0.60) 113 5 het unknown insertion chr7 rs147706722 0.38 - 0.2279 intronic DGKB Reference - - - - - - - - DGKB chr7 15725798 15725800 TGG - 0/21(1.00) 1082 21 hom nonframeshift deletion chr7 rs113582077 - - 0.5613 exonic MEOX2 Reference - - - - - - - - MEOX2,NM_005924,exon1,c.228_230del,p.76_77del chr7 15726117 15726117 - TT 4/51(0.93) 1191 55 hom unknown insertion chr7 - - - 0.3235 5-UTR MEOX2 Reference - - - - - - - - MEOX2 chr7 16298499 16298500 AT - 7/7(0.50) 304 14 het unknown deletion chr7 rs139478143 0.14 0.092087 0.0956 ncRNA_intronic ISPD-AS1 Reference - - - - - - - - ISPD-AS1 chr7 16348262 16348262 - AAC 43/36(0.46) 1983 79 het unknown insertion chr7 rs142647500 0.17 - 0.1961 intronic ISPD Reference - - - - - - - - ISPD chr7 16793779 16793779 - C 0/25(1.00) 1531 25 hom unknown insertion chr7 - 0.99 - 0.4167 intronic TSPAN13 Reference - - - - - - - - TSPAN13 chr7 17913083 17913083 - C 0/41(1.00) 2516 41 hom unknown insertion chr7 rs5882635 - - 0.3750 intronic SNX13 Reference - - - - - - - - SNX13 chr7 18067480 18067481 CT - 0/37(1.00) 2000 37 hom unknown deletion chr7 rs35708479 0.38 - 0.3309 5-UTR PRPS1L1 Reference - - - - - - - - PRPS1L1 chr7 18631099 18631100 TG - 4/24(0.86) 1205 28 het unknown deletion chr7 rs72102171 - - 0.3431 intronic HDAC9 Reference - - - - - - - - HDAC9 chr7 18688033 18688033 - TGTG 9/9(0.50) 469 18 het unknown insertion chr7 rs145105320 - - 0.2549 intronic HDAC9 Reference - - - - - - - - HDAC9 chr7 18806822 18806822 - A 12/13(0.52) 249 25 het unknown insertion chr7 - - 0.123741 0.1716 intronic HDAC9 Reference - - - - - - - - HDAC9 chr7 19184746 19184746 - TCT 82/67(0.45) 3070 149 het nonframeshift insertion chr7 rs34966908 - 0.201118 0.2721 exonic FERD3L Reference - - - - - - - - FERD3L,NM_152898,exon1,c.239_240insAGA,p.E80delinsEE chr7 20180507 20180507 - AC 13/4(0.24) 133 17 het unknown insertion chr7 rs139469624 - - 0.3775 3-UTR MACC1 Reference - - - - - - - - MACC1 chr7 21646233 21646233 - TTT 7/17(0.71) 168 24 hom unknown insertion chr7 - - - 0.0049 intronic DNAH11 Reference - - - - - - - - DNAH11 chr7 21659554 21659554 - TTAAT 0/25(1.00) 1531 25 hom unknown insertion chr7 rs112373177 - 0.435401 0.3505 intronic DNAH11 Reference - - - - - - - - DNAH11 chr7 21813318 21813318 - T 1/21(0.95) 594 22 hom unknown insertion chr7 rs11374411 - - 0.3652 intronic DNAH11 Reference - - - - - - - - DNAH11 chr7 21940558 21940561 ACTT - 15/8(0.35) 333 23 het unknown deletion chr7 rs10555456 0.70 - 0.4485 3-UTR CDCA7L Reference - - - - - - - - CDCA7L chr7 21941862 21941865 TCTT - 24/14(0.37) 620 38 het unknown deletion chr7 rs60370798 - 0.790328 0.3627 3-UTR CDCA7L Reference - - - - - - - - CDCA7L chr7 21942183 21942183 - GATTCAGAGTTTATTA 6/3(0.33) 121 9 het unknown insertion chr7 rs141458032 0.34 - 0.1912 intronic CDCA7L Reference - - - - - - - - CDCA7L chr7 22896341 22896341 C - 0/32(1.00) 687 32 hom unknown deletion chr7 rs5882865 - - 0.3848 downstream SNORD93 Reference - - - - - - - - SNORD93 chr7 23195556 23195560 TTTAT - 0/28(1.00) 1503 28 hom unknown deletion chr7 rs141774430 0.99 - 0.3799 intronic KLHL7 Reference - - - - - - - - KLHL7 chr7 23213934 23213944 AGACTCATCAG - 34/23(0.40) 998 57 het unknown deletion chr7 rs3217004 0.10 - 0.1324 3-UTR KLHL7 Reference - - - - - - - - KLHL7 chr7 23286355 23286355 - T 8/9(0.53) 476 17 het unknown insertion chr7 - 0.10 - 0.0833 5-UTR GPNMB Reference - - - - - - - - GPNMB chr7 23307635 23307638 TGGG - 20/26(0.57) 1257 46 het unknown deletion chr7 rs2307783 0.23 0.487220 0.2157 intronic GPNMB Reference - - - - - - - - GPNMB chr7 23510173 23510173 - GAG 2/3(0.60) 134 5 het unknown insertion chr7 rs35889311 - - 0.2574 upstream IGF2BP3 Reference - - - - - - - - IGF2BP3 chr7 25266570 25266572 TAA - 71/65(0.48) 3070 136 het nonframeshift deletion chr7 rs3216928 0.14 0.140495 0.2402 exonic NPVF Reference - - - - - - - - NPVF,NM_022150,exon2,c.212_214del,p.71_72del chr7 26224847 26224855 CTTCTGAAC - 57/34(0.37) 1568 91 het nonframeshift deletion chr7 rs201418114 - - 0.0319 exonic NFE2L3 Reference - - - - - - - - NFE2L3,NM_004289,exon4,c.1529_1537del,p.510_513del chr7 26883761 26883761 - A 21/12(0.36) 45 33 het unknown insertion chr7 - - - 0.0907 intronic SKAP2 Reference - - - - - - - - SKAP2 chr7 27885970 27885971 GT - 4/6(0.60) 261 10 het unknown deletion chr7 rs74847888 0.48 - 0.2721 intronic JAZF1 Reference - - - - - - - - JAZF1 chr7 28997498 28997498 C - 0/82(1.00) 3070 82 hom splicing deletion chr7 rs67010340 - - 0.6446 splicing TRIL Reference - - - - - - - - NM_014817,exon3,c.165-1G>-) chr7 28997596 28997596 - C 0/25(1.00) 1531 25 hom unknown insertion chr7 rs79480773 0.99 0.999738 0.5882 exonic TRIL Reference - - - - - - - - TRIL chr7 29544337 29544337 - TC 40/45(0.53) 2515 85 het unknown insertion chr7 rs10633708 - - 0.1348 intronic CHN2 Reference - - - - - - - - CHN2 chr7 30113862 30113862 - TG 2/17(0.89) 922 19 het unknown insertion chr7 rs149548208 - - 0.3505 intronic PLEKHA8 Reference - - - - - - - - PLEKHA8 chr7 30485703 30485703 - C 21/7(0.25) 157 28 het unknown insertion chr7 - 0.22 - 0.2206 intronic NOD1 Reference - - - - - - - - NOD1 chr7 30962414 30962414 G - 8/3(0.27) 48 11 het unknown deletion chr7 rs28362737 0.09 - 0.0392 intronic AQP1 Reference - - - - - - - - AQP1 chr7 31125082 31125082 - G 0/19(1.00) 1093 19 hom unknown insertion chr7 rs78205423 - - 0.5221 intronic ADCYAP1R1 Reference - - - - - - - - ADCYAP1R1 chr7 32593235 32593235 T - 2/22(0.92) 211 24 hom unknown deletion chr7 rs10717407 - - 0.3578 intronic AVL9 Reference - - - - - - - - AVL9 chr7 33297109 33297110 CA - 5/4(0.44) 154 9 het unknown deletion chr7 rs142354634 0.14 - 0.1569 intronic BBS9 Reference - - - - - - - - BBS9 chr7 34699827 34699827 G - 98/70(0.42) 2715 168 het unknown deletion chr7 rs35018938 0.09 - 0.1324 ncRNA_intronic NPSR1-AS1 Reference - - - - - - - - NPSR1-AS1 chr7 35289889 35289889 - A 0/15(1.00) 805 15 hom unknown insertion chr7 rs11428369 - - 0.4657 intronic TBX20 Reference - - - - - - - - TBX20 chr7 35289941 35289941 - A 0/14(1.00) 839 14 hom unknown insertion chr7 rs11428370 - - 0.3897 intronic TBX20 Reference - - - - - - - - TBX20 chr7 36336146 36336147 TG - 1/3(0.75) 114 4 het unknown deletion chr7 rs35022086 0.17 - 0.1471 intronic EEPD1 Reference - - - - - - - - EEPD1 chr7 36447349 36447349 - CTT 0/43(1.00) 2665 43 hom nonframeshift insertion chr7 rs143969069 0.63 0.384345 0.4681 exonic ANLN Reference - - - - - - - - ANLN,NM_001284301,exon5,c.880_881insCTT,p.T294delinsTS;ANLN,NM_018685,exon5,c.880_881insCTT,p.T294delinsTS;ANLN,NM_001284302,exon5,c.880_881insCTT,p.T294delinsTS chr7 36552729 36552729 - T 0/138(1.00) 3070 138 hom unknown insertion chr7 rs139631639 - - 0.5025 exonic AOAH Reference - - - - - - - - AOAH chr7 36552790 36552790 - T 0/110(1.00) 3070 110 hom unknown insertion chr7 rs143332781 - - 0.5270 exonic AOAH Reference - - - - - - - - AOAH chr7 36726479 36726480 GT - 0/12(1.00) 133 12 het unknown deletion chr7 - - - - intronic AOAH Reference - - - - - - - - AOAH chr7 36726477 36726480 GTGT - 0/12(1.00) 133 12 het unknown deletion chr7 rs72484318 - - 0.1691 intronic AOAH Reference - - - - - - - - AOAH chr7 37355590 37355590 - T 0/21(1.00) 1213 21 hom unknown insertion chr7 rs11383031 - 0.998000 0.3725 intronic ELMO1 Reference - - - - - - - - ELMO1 chr7 37889839 37889842 TTTC - 14/19(0.58) 909 33 het unknown deletion chr7 rs141149150 0.21 - 0.2500 intronic NME8 Reference - - - - - - - - NME8 chr7 37904066 37904068 AAC - 2/4(0.67) 163 6 het unknown deletion chr7 rs146061203 0.33 0.523229 0.1961 intronic NME8 Reference - - - - - - - - NME8 chr7 38356943 38356943 - A 20/16(0.44) 421 36 het unknown insertion chr7 rs34482025 0.47 0.447312 0.3456 intergenic TARP;TRG-AS1 Reference - - - - - - - - TRG-AS1(dist=24235);TARP(dist=43695) chr7 38530807 38530807 - A 1/24(0.96) 782 25 hom unknown insertion chr7 rs3837078 0.60 - 0.3162 intronic AMPH Reference - - - - - - - - AMPH chr7 39379699 39379700 CA - 0/24(1.00) 1266 24 hom unknown deletion chr7 rs5883685 0.78 - 0.4510 intronic POU6F2 Reference - - - - - - - - POU6F2 chr7 43495878 43495878 - T 0/42(1.00) 1868 42 hom unknown insertion chr7 rs3214631 0.44 0.574084 0.3652 intronic HECW1 Reference - - - - - - - - HECW1 chr7 44147567 44147567 - G 0/14(1.00) 794 14 hom unknown insertion chr7 rs75138510 - 0.999676 0.5025 intronic AEBP1 Reference - - - - - - - - AEBP1 chr7 44152119 44152119 - G 0/30(1.00) 1846 30 hom unknown insertion chr7 - - 0.999920 0.5417 intronic AEBP1 Reference - - - - - - - - AEBP1 chr7 44152524 44152524 - G 42/31(0.42) 1330 73 het unknown insertion chr7 - 0.22 0.190974 0.2794 intronic AEBP1 Reference - - - - - - - - AEBP1 chr7 44153082 44153082 - C 0/14(1.00) 822 14 hom unknown insertion chr7 rs77760629 - - 0.3824 intronic AEBP1 Reference - - - - - - - - AEBP1 chr7 44154865 44154865 - G 0/42(1.00) 2602 42 hom unknown insertion chr7 rs5883885 - - 0.5049 intronic POLD2 Reference - - - - - - - - POLD2 chr7 44180079 44180079 - G 0/50(1.00) 2945 50 hom unknown insertion chr7 rs5883888 - - 0.5539 intronic MYL7 Reference - - - - - - - - MYL7 chr7 44294389 44294390 GC - 4/3(0.43) 105 7 het unknown deletion chr7 - - - 0.0784 intronic CAMK2B Reference - - - - - - - - CAMK2B chr7 44613612 44613612 G - 0/72(1.00) 3070 72 hom unknown deletion chr7 rs11308115 0.87 - 0.4191 5-UTR DDX56 Reference - - - - - - - - DDX56 chr7 44620395 44620395 - C 2/4(0.67) 194 6 het unknown insertion chr7 rs146391993 - - 0.0417 intronic TMED4 Reference - - - - - - - - TMED4 chr7 44736237 44736240 CCCA - 10/5(0.33) 192 15 het unknown deletion chr7 rs144097169 0.08 - 0.1250 intronic OGDH Reference - - - - - - - - OGDH chr7 44737716 44737716 - AAG 17/11(0.39) 568 28 het unknown insertion chr7 rs3216978 - - 0.3750 intronic OGDH Reference - - - - - - - - OGDH chr7 47546545 47546545 G - 40/7(0.15) 222 47 het unknown deletion chr7 - - - 0.0172 intronic TNS3 Reference - - - - - - - - TNS3 chr7 47842749 47842749 - AA 23/11(0.32) 550 34 het unknown insertion chr7 - 0.17 - 0.1740 intronic C7orf69;PKD1L1 Reference - - - - - - - - C7orf69;PKD1L1 chr7 47979920 47979920 - A 44/16(0.27) 111 60 het unknown insertion chr7 - - - 0.0784 intronic PKD1L1 Reference - - - - - - - - PKD1L1 chr7 48287802 48287803 TT - 7/14(0.67) 522 21 het unknown deletion chr7 rs4024052 - 0.079336 0.1789 intronic ABCA13 Reference - - - - - - - - ABCA13 chr7 48467654 48467655 AA - 7/10(0.59) 109 17 het unknown deletion chr7 rs34529024 - - 0.2157 intronic ABCA13 Reference - - - - - - - - ABCA13 chr7 48522769 48522769 - T 16/23(0.59) 662 39 het unknown insertion chr7 - - 0.139046 0.1740 intronic ABCA13 Reference - - - - - - - - ABCA13 chr7 50191295 50191295 A - 0/15(1.00) 452 15 hom unknown deletion chr7 rs61109608 0.73 - 0.3358 intronic C7orf72 Reference - - - - - - - - C7orf72 chr7 50663318 50663318 - CACACACA 2/3(0.60) 143 5 het unknown insertion chr7 - - - - intronic GRB10 Reference - - - - - - - - GRB10 chr7 51085127 51085127 - T 0/65(1.00) 3070 65 hom unknown insertion chr7 rs5884181 - - 0.4436 3-UTR COBL Reference - - - - - - - - COBL chr7 51098568 51098570 TCT - 53/46(0.46) 2159 99 het nonframeshift deletion chr7 rs142060269 0.45 0.341933 0.3995 exonic COBL Reference - - - - - - - - COBL,NM_015198,exon9,c.1443_1445del,p.481_482del chr7 54614698 54614698 - G 50/57(0.53) 2562 107 het unknown insertion chr7 - 0.69 0.786240 0.4289 intronic VSTM2A Reference - - - - - - - - VSTM2A chr7 56020723 56020723 - A 5/7(0.58) 120 12 het unknown insertion chr7 rs200206566 0.05 - 0.0392 intronic MRPS17 Reference - - - - - - - - MRPS17 chr7 56048681 56048681 - A 2/2(0.50) 74 4 het unknown insertion chr7 rs150990289 0.05 - 0.0392 intronic GBAS Reference - - - - - - - - GBAS chr7 56127946 56127946 T - 24/17(0.41) 462 41 het unknown deletion chr7 rs71015173 0.05 0.014537 0.0441 intronic CCT6A Reference - - - - - - - - CCT6A chr7 63720785 63720785 T - 0/56(1.00) 1994 56 hom unknown deletion chr7 rs56035500 - - 0.4142 intronic ZNF679 Reference - - - - - - - - ZNF679 chr7 64004820 64004821 AC - 0/23(1.00) 381 23 het unknown deletion chr7 - - - - intronic ZNF680 Reference - - - - - - - - ZNF680 chr7 64004818 64004821 ACAC - 0/23(1.00) 381 23 het unknown deletion chr7 rs111920108 - - 0.1446 intronic ZNF680 Reference - - - - - - - - ZNF680 chr7 64166642 64166642 - G 0/11(1.00) 650 11 hom unknown insertion chr7 rs35661712 0.92 - 0.3431 intronic ZNF107 Reference - - - - - - - - ZNF107 chr7 64254822 64254832 TGCTGCAGGTC - 62/49(0.44) 2334 111 het unknown deletion chr7 rs112918223 - - 0.2451 5-UTR ZNF138 Reference - - - - - - - - ZNF138 chr7 64852791 64852792 TG - 51/7(0.12) 174 58 het unknown deletion chr7 - - - - intronic ZNF92 Reference - - - - - - - - ZNF92 chr7 65440854 65440854 G - 26/5(0.16) 137 31 het unknown deletion chr7 - - - 0.0613 intronic GUSB Reference - - - - - - - - GUSB chr7 65444359 65444359 - GA 4/6(0.60) 308 10 het unknown insertion chr7 rs139791587 - 0.463498 0.4730 intronic GUSB Reference - - - - - - - - GUSB chr7 65552231 65552232 GT - 7/9(0.56) 368 16 het unknown deletion chr7 rs60878697 - - 0.1863 intronic ASL Reference - - - - - - - - ASL chr7 65599262 65599262 G - 8/3(0.27) 93 11 het unknown deletion chr7 - - - - intronic CRCP Reference - - - - - - - - CRCP chr7 66274375 66274375 - AG 0/11(1.00) 650 11 hom unknown insertion chr7 rs144655186 - - 0.3848 3-UTR RABGEF1 Reference - - - - - - - - RABGEF1 chr7 66416138 66416139 TG - 77/10(0.11) 254 87 het unknown deletion chr7 rs148803801 - - 0.0392 intronic TMEM248 Reference - - - - - - - - TMEM248 chr7 70251116 70251117 TA - 11/9(0.45) 397 20 het unknown deletion chr7 rs35360940 0.22 - 0.1667 intronic AUTS2 Reference - - - - - - - - AUTS2 chr7 70885883 70885883 - T 38/41(0.52) 2304 79 het unknown insertion chr7 - 0.41 0.569089 0.4265 intronic WBSCR17 Reference - - - - - - - - WBSCR17 chr7 70886107 70886107 - C 0/48(1.00) 2827 48 hom unknown insertion chr7 rs11455716 - - 0.5441 intronic WBSCR17 Reference - - - - - - - - WBSCR17 chr7 72738350 72738350 - G 0/22(1.00) 1272 22 hom unknown insertion chr7 - 0.99 - 0.5662 intronic TRIM50 Reference - - - - - - - - TRIM50 chr7 72989141 72989141 - A 11/9(0.45) 152 20 het unknown insertion chr7 rs150029834 0.11 - 0.1324 intronic TBL2 Reference - - - - - - - - TBL2 chr7 73112058 73112058 G - 35/22(0.39) 595 57 het unknown deletion chr7 rs3830638 0.41 - 0.4142 intronic WBSCR22 Reference - - - - - - - - WBSCR22 chr7 73479965 73479965 G - 31/7(0.18) 233 38 het unknown deletion chr7 - - - - intronic ELN Reference - - - - - - - - ELN chr7 73483531 73483531 - A 1/3(0.75) 137 4 het unknown insertion chr7 rs34208922 0.12 - 0.0833 3-UTR ELN Reference - - - - - - - - ELN chr7 73926954 73926954 - G 4/4(0.50) 188 8 het unknown insertion chr7 rs3216483 - - 0.2230 intronic GTF2IRD1 Reference - - - - - - - - GTF2IRD1 chr7 75145267 75145267 A - 16/18(0.53) 689 34 het unknown deletion chr7 rs5884966 0.27 - 0.2353 ncRNA_intronic PMS2P3 Reference - - - - - - - - PMS2P3 chr7 75616818 75616821 GACA - 0/73(1.00) 3070 73 hom unknown deletion chr7 rs71741566 - 0.970296 0.5172 intronic TMEM120A Reference - - - - - - - - TMEM120A chr7 75912537 75912537 G - 4/5(0.56) 63 9 het unknown deletion chr7 rs3839766 0.43 - 0.1446 intronic SRRM3 Reference - - - - - - - - SRRM3 chr7 76023088 76023088 - G 0/16(1.00) 914 16 hom unknown insertion chr7 rs140509712 0.98 0.999575 0.4975 intronic SRCRB4D Reference - - - - - - - - SRCRB4D chr7 76023131 76023131 - G 0/36(1.00) 2109 36 hom unknown insertion chr7 rs35508921 0.98 0.999679 0.5221 intronic SRCRB4D Reference - - - - - - - - SRCRB4D chr7 76239503 76239503 - C 25/23(0.48) 995 48 het unknown insertion chr7 rs140446540 - 0.594015 0.3407 ncRNA_UTR3 POMZP3 Reference - - - - - - - - POMZP3 chr7 76240786 76240786 A - 28/23(0.45) 1077 51 het frameshift deletion chr7 rs71819724 0.35 0.541292 0.4240 exonic POMZP3 Reference - - - - - - - - POMZP3,NM_012230,exon6,c.560delT,p.L187fs chr7 77006105 77006113 AAAAAAAAG - 7/4(0.36) 110 11 het unknown deletion chr7 - - - - intronic GSAP Reference - - - - - - - - GSAP chr7 77006117 77006118 GT - 13/2(0.13) 35 15 het unknown deletion chr7 - - - 0.0074 intronic GSAP Reference - - - - - - - - GSAP chr7 77010580 77010580 - A 23/22(0.49) 441 45 het unknown insertion chr7 rs76371639 - - 0.3113 intronic GSAP Reference - - - - - - - - GSAP chr7 77010683 77010686 AAAC - 25/9(0.26) 383 34 het unknown deletion chr7 rs146257641 0.40 0.102391 0.3039 intronic GSAP Reference - - - - - - - - GSAP chr7 78119221 78119221 - A 0/35(1.00) 937 35 hom unknown insertion chr7 - - - 0.0417 intronic MAGI2 Reference - - - - - - - - MAGI2 chr7 81366210 81366210 - GTGTGT 1/6(0.86) 317 7 het unknown insertion chr7 - - - 0.0221 intronic HGF Reference - - - - - - - - HGF chr7 81641571 81641571 A - 11/9(0.45) 35 20 het unknown deletion chr7 - - - 0.0025 intronic CACNA2D1 Reference - - - - - - - - CACNA2D1 chr7 81964578 81964578 - A 5/6(0.55) 75 11 het unknown insertion chr7 - - 0.152875 0.0931 intronic CACNA2D1 Reference - - - - - - - - CACNA2D1 chr7 82581488 82581488 - TCA 0/122(1.00) 3070 122 hom nonframeshift insertion chr7 rs10630259 - 0.986613 0.5833 exonic PCLO Reference - - - - - - - - PCLO,NM_033026,exon5,c.8780_8781insTGA,p.E2927delinsDE;PCLO,NM_014510,exon5,c.8780_8781insTGA,p.E2927delinsDE chr7 83023588 83023589 AC - 0/21(1.00) 1081 21 hom unknown deletion chr7 rs144781718 - - 0.4020 intronic SEMA3E Reference - - - - - - - - SEMA3E chr7 83098428 83098428 - T 3/3(0.50) 63 6 het unknown insertion chr7 - 0.63 - 0.3064 intronic SEMA3E Reference - - - - - - - - SEMA3E chr7 83606353 83606353 - GA 6/8(0.57) 422 14 het unknown insertion chr7 rs79919970 - - 0.3775 intronic SEMA3A Reference - - - - - - - - SEMA3A chr7 83631450 83631453 AAAG - 17/5(0.23) 171 22 het unknown deletion chr7 rs140143584 0.15 - 0.1716 intronic SEMA3A Reference - - - - - - - - SEMA3A chr7 86795948 86795949 AG - 43/26(0.38) 1189 69 het unknown deletion chr7 rs3058402 0.51 0.690765 0.3725 intronic DMTF1 Reference - - - - - - - - DMTF1 chr7 87229580 87229580 C - 13/8(0.38) 219 21 het unknown deletion chr7 rs3214119 0.07 - 0.1299 intronic ABCB1 Reference - - - - - - - - ABCB1 chr7 87465536 87465538 GTT - 9/11(0.55) 507 20 het unknown deletion chr7 rs3216917 0.06 0.045469 0.1299 3-UTR SLC25A40 Reference - - - - - - - - SLC25A40 chr7 87800809 87800809 G - 0/14(1.00) 609 14 hom unknown deletion chr7 rs11332301 0.49 0.091262 0.3235 intronic ADAM22 Reference - - - - - - - - ADAM22 chr7 88423433 88423433 - T 4/9(0.69) 205 13 het unknown insertion chr7 - 0.12 - 0.1127 3-UTR C7orf62 Reference - - - - - - - - C7orf62 chr7 89933958 89933977 TAGATAGATAGATAGATAGA - 0/10(1.00) 497 10 hom unknown deletion chr7 rs146962282 - - 0.2868 intronic C7orf63 Reference - - - - - - - - C7orf63 chr7 89976138 89976140 TTC - 0/187(1.00) 3070 187 hom unknown deletion chr7 rs150610033 0.67 0.229952 0.4681 intronic GTPBP10 Reference - - - - - - - - GTPBP10 chr7 90338943 90338943 - A 20/15(0.43) 275 35 het unknown insertion chr7 rs34926826 0.09 0.187700 0.0686 intronic CDK14 Reference - - - - - - - - CDK14 chr7 90894459 90894459 - CCG 5/5(0.50) 245 10 het nonframeshift insertion chr7 rs139480179 0.31 0.388600 0.2451 exonic FZD1 Reference - - - - - - - - FZD1,NM_003505,exon1,c.264_265insCCG,p.Q88delinsQP chr7 91948921 91948923 TTC - 2/7(0.78) 345 9 het unknown deletion chr7 rs144102934 0.36 - 0.2598 intronic ANKIB1 Reference - - - - - - - - ANKIB1 chr7 92129162 92129162 A - 23/23(0.50) 222 46 het unknown deletion chr7 rs5885806 - - 0.3848 intronic PEX1 Reference - - - - - - - - PEX1 chr7 92130685 92130685 A - 1/4(0.80) 131 5 het unknown deletion chr7 rs3842627 0.33 - 0.2426 intronic PEX1 Reference - - - - - - - - PEX1 chr7 92136499 92136499 - A 7/9(0.56) 232 16 het unknown insertion chr7 - 0.63 - 0.3407 intronic PEX1 Reference - - - - - - - - PEX1 chr7 92838201 92838201 - A 8/4(0.33) 36 12 het unknown insertion chr7 - 0.31 0.123880 0.2721 intronic HEPACAM2 Reference - - - - - - - - HEPACAM2 chr7 92855628 92855628 - A 12/20(0.62) 257 32 het unknown insertion chr7 - - - 0.2966 intronic HEPACAM2 Reference - - - - - - - - HEPACAM2 chr7 93067335 93067335 A - 0/30(1.00) 1354 30 hom unknown deletion chr7 rs10713823 0.89 0.637939 0.4093 intronic CALCR Reference - - - - - - - - CALCR chr7 94051085 94051122 CTACCTCCTACTCCTTGGTCTATTCCTGGTCACATGTA - 1/75(0.99) 3070 76 hom unknown deletion chr7 - - - 0.0343 intronic COL1A2 Reference - - - - - - - - COL1A2 chr7 94257449 94257449 - AC 8/5(0.38) 236 13 het unknown insertion chr7 rs138881114 - - 0.1936 intronic SGCE Reference - - - - - - - - SGCE chr7 94928555 94928556 AC - 2/5(0.71) 215 7 het unknown deletion chr7 rs78414794 0.12 - 0.1103 intronic PON1 Reference - - - - - - - - PON1 chr7 94935199 94935199 A - 2/5(0.71) 172 7 het unknown deletion chr7 rs3917549 0.23 - 0.1373 intronic PON1 Reference - - - - - - - - PON1 chr7 95125051 95125052 TT - 1/17(0.94) 41 18 het unknown deletion chr7 rs140701495 - - 0.3652 intronic ASB4 Reference - - - - - - - - ASB4 chr7 95221928 95221928 A - 10/11(0.52) 181 21 het unknown deletion chr7 rs200624704 0.15 - 0.1838 intronic PDK4 Reference - - - - - - - - PDK4 chr7 97846857 97846859 GAG - 0/11(1.00) 565 11 hom unknown deletion chr7 rs11471393 - 0.769387 0.4681 intronic TECPR1 Reference - - - - - - - - TECPR1 chr7 98550655 98550686 TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG - 12/11(0.48) 499 23 het unknown deletion chr7 - - - 0.0637 intronic TRRAP Reference - - - - - - - - TRRAP chr7 98637917 98637918 CG - 4/5(0.56) 209 9 het unknown deletion chr7 rs3033104 0.23 - 0.1520 intronic SMURF1 Reference - - - - - - - - SMURF1 chr7 98648518 98648518 G - 9/20(0.69) 335 29 het unknown deletion chr7 rs57957340 - - 0.3627 intronic SMURF1 Reference - - - - - - - - SMURF1 chr7 98658131 98658131 T - 4/13(0.76) 101 17 het unknown deletion chr7 rs11311529 - - 0.3358 intronic SMURF1 Reference - - - - - - - - SMURF1 chr7 99013566 99013570 TTATT - 3/3(0.50) 108 6 het unknown deletion chr7 rs144723806 0.32 - 0.2059 intronic BUD31 Reference - - - - - - - - BUD31 chr7 99293859 99293859 - T 10/9(0.47) 41 19 het unknown insertion chr7 rs11401860 - - 0.3039 intronic CYP3A7-CYP3AP1 Reference - - - - - - - - CYP3A7-CYP3AP1 chr7 99710584 99710584 - G 24/24(0.50) 1327 48 het unknown insertion chr7 rs4134904 0.86 0.573403 0.5368 intronic TAF6 Reference - - - - - - - - TAF6 chr7 99746445 99746445 G - 17/26(0.60) 1266 43 het unknown deletion chr7 rs58185311 0.41 - 0.3358 upstream LAMTOR4 Reference - - - - - - - - LAMTOR4 chr7 99771305 99771305 - TCTT 0/14(1.00) 723 14 hom unknown insertion chr7 rs112290893 - - 0.3260 intronic GPC2 Reference - - - - - - - - GPC2 chr7 100284511 100284511 G - 0/36(1.00) 1146 36 hom unknown deletion chr7 rs35436931 - - 0.5294 intronic GIGYF1 Reference - - - - - - - - GIGYF1 chr7 100371476 100371476 - G 0/87(1.00) 3070 87 hom unknown insertion chr7 rs148800656 0.82 0.325288 0.4975 exonic ZAN Reference - - - - - - - - ZAN chr7 100481659 100481659 T - 0/51(1.00) 2140 51 hom unknown deletion chr7 rs11310439 0.81 0.374361 0.5294 intronic SRRT Reference - - - - - - - - SRRT chr7 100550032 100550032 - CCT 138/110(0.44) 3070 248 het unknown insertion chr7 rs111723000 - - 0.4926 intergenic ACHE;MUC12 Reference - - - - - - - - MUC12(dist=62872);ACHE(dist=56440) chr7 100550650 100550650 - A 15/2(0.12) 35 17 het unknown insertion chr7 - - - 0.0221 intergenic ACHE;MUC12 Reference - - - - - - - - ACHE(dist=57058);MUC12(dist=62254) chr7 100550658 100550658 - TC 14/13(0.48) 697 27 het unknown insertion chr7 - - - 0.0760 intergenic ACHE;MUC12 Reference - - - - - - - - MUC12(dist=62246);ACHE(dist=57066) chr7 100550663 100550664 GT - 18/13(0.42) 585 31 het unknown deletion chr7 - - - 0.0662 intergenic ACHE;MUC12 Reference - - - - - - - - MUC12(dist=62240);ACHE(dist=57071) chr7 100550674 100550674 - CC 35/13(0.27) 630 48 het unknown insertion chr7 - - - 0.0392 intergenic ACHE;MUC12 Reference - - - - - - - - ACHE(dist=57082);MUC12(dist=62230) chr7 100551637 100551637 - CAA 171/35(0.17) 1531 206 het unknown insertion chr7 rs112753297 - - 0.0123 intergenic ACHE;MUC12 Reference - - - - - - - - MUC12(dist=61267);ACHE(dist=58045) chr7 100607644 100607644 T - 29/17(0.37) 761 46 het unknown deletion chr7 rs5886153 - - 0.4608 intergenic ACHE;MUC12 Reference - - - - - - - - ACHE(dist=114052);MUC12(dist=5260) chr7 100608123 100608123 - G 9/3(0.25) 113 12 het unknown insertion chr7 rs111295588 - - 0.0539 intergenic ACHE;MUC12 Reference - - - - - - - - ACHE(dist=114531);MUC12(dist=4781) chr7 100608188 100608188 - T 29/7(0.19) 292 36 het unknown insertion chr7 - - - 0.1544 intergenic ACHE;MUC12 Reference - - - - - - - - ACHE(dist=114596);MUC12(dist=4716) chr7 100608194 100608194 - GTCTGGG 36/4(0.10) 86 40 het unknown insertion chr7 - - - 0.1397 intergenic ACHE;MUC12 Reference - - - - - - - - ACHE(dist=114602);MUC12(dist=4710) chr7 100608268 100608268 - CTTAACCCCTTGAT 86/35(0.29) 1629 121 het unknown insertion chr7 rs141757611 - - 0.1765 intergenic ACHE;MUC12 Reference - - - - - - - - MUC12(dist=4636);ACHE(dist=114676) chr7 100612767 100612779 TGTCCAGGCACTT - 21/3(0.12) 59 24 het unknown deletion chr7 rs71901679 - - 0.0613 upstream MUC12 Reference - - - - - - - - MUC12 chr7 100613060 100613062 CCT - 15/3(0.17) 72 18 het unknown deletion chr7 rs147306456 - - 0.2672 intronic MUC12 Reference - - - - - - - - MUC12 chr7 100661014 100661032 GGGACTCCCTTCTCCCCCT - 5/5(0.50) 206 10 het unknown deletion chr7 rs200258005 0.06 - 0.1127 intronic MUC12 Reference - - - - - - - - MUC12 chr7 100775090 100775090 - AAC het unknown insertion chr7 - - - 0.0025 intronic SERPINE1 Reference - - - - - - - - SERPINE1 chr7 100775088 100775090 AAC - 0/4(1.00) 179 4 het unknown deletion chr7 rs199827473 - - 0.1961 intronic SERPINE1 Reference - - - - - - - - SERPINE1 chr7 100845356 100845356 - GGCGA 1/4(0.80) 197 5 het unknown insertion chr7 rs112665774 0.42 - 0.3137 intergenic MOGAT3;PLOD3 Reference - - - - - - - - PLOD3(dist=3902);MOGAT3(dist=1054) chr7 100965096 100965096 - G 0/27(1.00) 1471 27 hom unknown insertion chr7 rs147797468 - - 0.3946 upstream RABL5 Reference - - - - - - - - RABL5 chr7 101200669 101200669 - G 0/132(1.00) 3070 132 hom unknown insertion chr7 - - 0.999659 0.5123 exonic COL26A1 Reference - - - - - - - - COL26A1 chr7 101923315 101923315 - C 43/29(0.40) 1477 72 het unknown insertion chr7 rs3831764 - 0.808706 0.4093 intronic CUX1 Reference - - - - - - - - CUX1 chr7 102036397 102036397 C - 1/45(0.98) 2379 46 hom unknown deletion chr7 rs28366045 0.41 - 0.2328 ncRNA_intronic LOC100630923 Reference - - - - - - - - LOC100630923 chr7 102113564 102113564 G - 0/20(1.00) 454 20 hom unknown deletion chr7 rs61229695 - - 0.3333 3-UTR LRWD1;POLR2J Reference - - - - - - - - LRWD1;POLR2J chr7 102398411 102398411 - T 4/10(0.71) 97 14 het unknown insertion chr7 rs11437421 - - - intronic FAM185A Reference - - - - - - - - FAM185A chr7 102398411 102398411 T - 4/10(0.71) 97 14 het unknown deletion chr7 rs201309454 - 0.062234 0.1127 intronic FAM185A Reference - - - - - - - - FAM185A chr7 102518909 102518909 - GT 13/10(0.43) 520 23 het unknown insertion chr7 rs139889273 0.57 0.240575 0.3652 intronic FBXL13 Reference - - - - - - - - FBXL13 chr7 102575000 102575002 GAA - 70/48(0.41) 2257 118 het nonframeshift deletion chr7 rs3832497 0.43 0.743473 0.4706 exonic LRRC17 Reference - - - - - - - - LRRC17,NM_001031692,exon2,c.640_642del,p.214_214del;LRRC17,NM_005824,exon2,c.640_642del,p.214_214del chr7 102755312 102755312 T - 0/14(1.00) 276 14 hom unknown deletion chr7 rs11332590 - - 0.3824 intronic NAPEPLD Reference - - - - - - - - NAPEPLD chr7 103132302 103132323 CTCACACACACACACACACACA - 3/3(0.50) 90 6 het unknown deletion chr7 - - - 0.0074 intronic RELN Reference - - - - - - - - RELN chr7 103185831 103185833 AAC - 21/17(0.45) 785 38 het unknown deletion chr7 rs147601324 0.09 0.041141 0.1422 intronic RELN Reference - - - - - - - - RELN chr7 103629803 103629803 - GCCGCC 0/16(1.00) 965 16 hom unknown insertion chr7 - - - 0.2696 5-UTR RELN Reference - - - - - - - - RELN chr7 103824724 103824724 - A 3/3(0.50) 121 6 het unknown insertion chr7 rs11384924 0.53 - 0.2647 intronic ORC5 Reference - - - - - - - - ORC5 chr7 104746523 104746523 T - 0/18(1.00) 761 18 hom unknown deletion chr7 rs11340728 0.68 - 0.3725 intronic KMT2E Reference - - - - - - - - KMT2E chr7 105146593 105146593 - T 27/37(0.58) 1451 64 het unknown insertion chr7 - - 0.903548 0.4069 intronic PUS7 Reference - - - - - - - - PUS7 chr7 106768839 106768839 - AC 0/53(1.00) 3070 53 hom unknown insertion chr7 rs201418910 0.46 - 0.3382 intronic PRKAR2B Reference - - - - - - - - PRKAR2B chr7 106898908 106898908 - AC 15/5(0.25) 183 20 het unknown insertion chr7 rs200066090 - - 0.0392 intronic COG5 Reference - - - - - - - - COG5 chr7 107217069 107217069 G - 0/54(1.00) 1541 54 hom unknown deletion chr7 rs3839819 - 0.803754 0.4314 intronic DUS4L Reference - - - - - - - - DUS4L chr7 107531832 107531832 - C 0/28(1.00) 1720 28 hom unknown insertion chr7 rs11373214 - - 0.4167 intronic DLD Reference - - - - - - - - DLD chr7 107564537 107564538 GG - 8/6(0.43) 177 14 het unknown deletion chr7 rs113471235 0.86 0.639466 - intronic LAMB1 Reference - - - - - - - - LAMB1 chr7 111386511 111386511 - T 25/37(0.60) 2104 62 het unknown insertion chr7 rs3832524 0.64 0.616441 0.3995 intronic DOCK4 Reference - - - - - - - - DOCK4 chr7 111423074 111423074 G - 4/4(0.50) 322 8 het unknown deletion chr7 - - - 0.0123 intronic DOCK4 Reference - - - - - - - - DOCK4 chr7 111512166 111512166 C - 8/11(0.58) 510 19 het unknown deletion chr7 rs58173189 0.21 0.174575 0.1961 intronic DOCK4 Reference - - - - - - - - DOCK4 chr7 111585013 111585013 - AGAC 12/11(0.48) 583 23 het unknown insertion chr7 rs10627423 0.34 - 0.2181 intronic DOCK4 Reference - - - - - - - - DOCK4 chr7 112107983 112107984 GG - 8/6(0.43) 197 14 het unknown deletion chr7 rs201518301 0.07 - 0.0809 intronic IFRD1 Reference - - - - - - - - IFRD1 chr7 114303491 114303491 - T 14/12(0.46) 180 26 het unknown insertion chr7 - - - 0.1618 intronic FOXP2 Reference - - - - - - - - FOXP2 chr7 115874818 115874819 AA - 0/11(1.00) 399 11 hom unknown deletion chr7 rs140745697 0.69 - 0.3333 intronic TES Reference - - - - - - - - TES chr7 116381121 116381121 G - 11/5(0.31) 182 16 het unknown deletion chr7 - - - 0.0025 intronic MET Reference - - - - - - - - MET chr7 116409676 116409676 T - 13/13(0.50) 31 26 het unknown deletion chr7 rs72220100 - - 0.1520 intronic MET Reference - - - - - - - - MET chr7 116660465 116660465 C - 0/47(1.00) 2146 47 hom unknown deletion chr7 rs5886844 - - 0.3971 intronic ST7 Reference - - - - - - - - ST7 chr7 120450680 120450680 - CA het unknown insertion chr7 - - - - intronic TSPAN12 Reference - - - - - - - - TSPAN12 chr7 120450679 120450680 CA - 7/11(0.61) 515 18 het unknown deletion chr7 - - - 0.1054 intronic TSPAN12 Reference - - - - - - - - TSPAN12 chr7 120739963 120739964 TT - 1/62(0.98) 591 63 hom unknown deletion chr7 rs199844199 - - 0.4510 intronic CPED1 Reference - - - - - - - - CPED1 chr7 121942832 121942832 - ACA 0/101(1.00) 3070 101 hom unknown insertion chr7 rs34921295 - 0.988738 0.5196 intronic FEZF1 Reference - - - - - - - - FEZF1 chr7 122769381 122769390 TGTGTGTGTG - 38/23(0.38) 127 61 het unknown deletion chr7 - - - - intronic SLC13A1 Reference - - - - - - - - SLC13A1 chr7 122769379 122769390 TGTGTGTGTGTG - 38/23(0.38) 127 61 het unknown deletion chr7 - - - 0.0172 intronic SLC13A1 Reference - - - - - - - - SLC13A1 chr7 123196787 123196787 - A 5/4(0.44) 94 9 het unknown insertion chr7 rs113495801 0.35 - 0.2230 intronic NDUFA5 Reference - - - - - - - - NDUFA5 chr7 123324746 123324748 CAG - 14/16(0.53) 753 30 het unknown deletion chr7 rs147291543 0.57 - 0.3113 intronic WASL Reference - - - - - - - - WASL chr7 123329063 123329064 TC - 1/5(0.83) 100 6 het unknown deletion chr7 - - - - intronic WASL Reference - - - - - - - - WASL chr7 123329061 123329064 TCTC - 1/5(0.83) 100 6 het unknown deletion chr7 rs71694280 - - 0.0025 intronic WASL Reference - - - - - - - - WASL chr7 123334697 123334697 T - 13/12(0.48) 444 25 het unknown deletion chr7 rs35280100 0.58 - 0.3750 intronic WASL Reference - - - - - - - - WASL chr7 123672457 123672459 GCT - 20/21(0.51) 996 41 het nonframeshift deletion chr7 - - - 0.0319 exonic TMEM229A Reference - - - - - - - - TMEM229A,NM_001136002,exon1,c.599_601del,p.200_201del chr7 124475297 124475301 AAACA - 0/26(1.00) 1393 26 hom unknown deletion chr7 rs142780416 - - 0.2623 intronic POT1 Reference - - - - - - - - POT1 chr7 127253714 127253714 - G 8/4(0.33) 176 12 het unknown insertion chr7 rs3835004 - - 0.3431 intronic PAX4 Reference - - - - - - - - PAX4 chr7 127347821 127347830 GTGTGTGTGT - 5/4(0.44) 180 9 het unknown deletion chr7 - - - 0.0294 intronic SND1 Reference - - - - - - - - SND1 chr7 128315672 128315672 - TTC 45/44(0.49) 2463 89 het unknown insertion chr7 rs140314605 0.50 0.264243 0.3922 intronic FAM71F2 Reference - - - - - - - - FAM71F2 chr7 128451353 128451353 - AGAGAGCCTGGGA 22/11(0.33) 550 33 het unknown insertion chr7 rs111409895 0.79 - 0.3529 intronic CCDC136 Reference - - - - - - - - CCDC136 chr7 128485921 128485931 AGAGGAGGGGA - 7/5(0.42) 200 12 het unknown deletion chr7 rs200495738 0.35 - 0.2108 intronic FLNC Reference - - - - - - - - FLNC chr7 128486252 128486252 - GGGCAGGTGGGCAGGGCC 29/32(0.52) 1378 61 het unknown insertion chr7 rs138334624 0.33 0.082090 0.2230 intronic FLNC Reference - - - - - - - - FLNC chr7 128533514 128533514 - C 0/54(1.00) 3070 54 hom unknown insertion chr7 rs34061445 - 0.999369 0.6127 exonic KCP Reference - - - - - - - - KCP chr7 128548302 128548304 AAG - 1/10(0.91) 396 11 het unknown deletion chr7 - - - 0.0221 intronic KCP Reference - - - - - - - - KCP chr7 128548304 128548304 - AAGA het unknown insertion chr7 - - - 0.0245 intronic KCP Reference - - - - - - - - KCP chr7 128550681 128550681 C - 0/20(1.00) 761 20 hom splicing deletion chr7 rs11335250 - 0.999139 0.4779 splicing KCP Reference - - - - - - - - NM_001135914,exon3,c.50-1G>-;NM_199349,exon3,c.50-1G>-) chr7 129028858 129028858 T - 1/28(0.97) 491 29 hom unknown deletion chr7 rs35404531 - 0.340032 0.4265 intronic AHCYL2 Reference - - - - - - - - AHCYL2 chr7 129098314 129098314 C - 0/11(1.00) 428 11 hom unknown deletion chr7 rs3214796 0.62 0.290198 0.3775 intronic STRIP2 Reference - - - - - - - - STRIP2 chr7 129680994 129680994 - TG 2/13(0.87) 662 15 het unknown insertion chr7 rs34409527 - - 0.3554 intronic ZC3HC1 Reference - - - - - - - - ZC3HC1 chr7 129916390 129916390 - AC 8/10(0.56) 533 18 het unknown insertion chr7 rs113279625 - - 0.3431 intronic CPA2 Reference - - - - - - - - CPA2 chr7 130148562 130148562 - TCTTAGGAAGTG 0/15(1.00) 902 15 hom unknown insertion chr7 rs58927323 - - 0.4632 intronic COPG2 Reference - - - - - - - - COPG2 chr7 130297120 130297120 A - 3/76(0.96) 1420 79 hom unknown deletion chr7 rs34699820 - - 0.3922 intronic COPG2 Reference - - - - - - - - COPG2 chr7 131191555 131191555 C - 7/11(0.61) 397 18 het unknown deletion chr7 rs56231781 0.49 - 0.3848 intronic PODXL Reference - - - - - - - - PODXL chr7 131241029 131241029 - GGCGAC 11/7(0.39) 324 18 het nonframeshift insertion chr7 - - - 0.1373 exonic PODXL Reference - - - - - - - - PODXL,NM_001018111,exon1,c.89_90insGTCGCC,p.P30delinsPSP;PODXL,NM_005397,exon1,c.89_90insGTCGCC,p.P30delinsPSP chr7 131864170 131864170 - ACACACAAACAT 8/7(0.47) 335 15 het unknown insertion chr7 rs111283885 - - 0.0637 intronic PLXNA4 Reference - - - - - - - - PLXNA4 chr7 133881920 133881921 TG - 3/3(0.50) 108 6 het unknown deletion chr7 rs10611703 - - 0.3505 intronic LRGUK Reference - - - - - - - - LRGUK chr7 134612759 134612759 - T 0/21(1.00) 1213 21 hom unknown insertion chr7 rs58197245 - - 0.3873 intronic CALD1 Reference - - - - - - - - CALD1 chr7 134925241 134925241 - A 4/43(0.91) 945 47 hom unknown insertion chr7 rs34330846 - - 0.2500 intronic STRA8 Reference - - - - - - - - STRA8 chr7 134930169 134930169 - GAG 1/55(0.98) 3070 56 hom unknown insertion chr7 rs113633449 - 0.900032 0.3995 intronic STRA8 Reference - - - - - - - - STRA8 chr7 135375909 135375909 - AA 52/13(0.20) 81 65 het unknown insertion chr7 - - - 0.0882 intronic SLC13A4 Reference - - - - - - - - SLC13A4 chr7 135375925 135375925 A - 42/57(0.58) 1531 99 het unknown deletion chr7 rs201222459 0.27 0.280990 0.0123 intronic SLC13A4 Reference - - - - - - - - SLC13A4 chr7 137092746 137092746 A - 23/18(0.44) 641 41 het unknown deletion chr7 rs3217275 0.71 0.702157 0.4755 intronic DGKI Reference - - - - - - - - DGKI chr7 137531148 137531148 T - 0/46(1.00) 2497 46 hom unknown deletion chr7 rs71815938 - - 0.4608 intronic DGKI Reference - - - - - - - - DGKI chr7 137612914 137612916 TGG - 0/16(1.00) 841 16 hom nonframeshift deletion chr7 rs66593747 - 0.639821 0.6201 exonic CREB3L2 Reference - - - - - - - - CREB3L2,NM_194071,exon2,c.299_301del,p.100_101del;CREB3L2,NM_001253775,exon2,c.299_301del,p.100_101del chr7 137776411 137776411 - A 1/19(0.95) 334 20 hom unknown insertion chr7 - - - 0.3456 intronic AKR1D1 Reference - - - - - - - - AKR1D1 chr7 138189190 138189192 CTC - 2/7(0.78) 315 9 het unknown deletion chr7 rs148040062 - - 0.0613 intronic TRIM24 Reference - - - - - - - - TRIM24 chr7 138356730 138356730 - G 0/23(1.00) 1405 23 hom unknown insertion chr7 rs202122915 - 0.999117 0.3775 intronic SVOPL Reference - - - - - - - - SVOPL chr7 138356734 138356734 G - 0/23(1.00) 1227 23 hom unknown deletion chr7 rs5887896 - 0.999705 0.3701 intronic SVOPL Reference - - - - - - - - SVOPL chr7 138719195 138719195 G - 24/15(0.38) 541 39 het unknown deletion chr7 rs10713373 0.36 - 0.3088 intronic ZC3HAV1L Reference - - - - - - - - ZC3HAV1L chr7 138822504 138822504 - GTTC 0/16(1.00) 965 16 hom unknown insertion chr7 rs10674402 - - 0.2794 intronic TTC26 Reference - - - - - - - - TTC26 chr7 138957241 138957244 TATG - 4/14(0.78) 665 18 het unknown deletion chr7 - - - 0.0441 intronic UBN2 Reference - - - - - - - - UBN2 chr7 139097282 139097282 - C 9/7(0.44) 353 16 het unknown insertion chr7 rs11409457 - 0.400940 0.2353 intronic C7orf55-LUC7L2;LUC7L2 Reference - - - - - - - - LUC7L2;C7orf55-LUC7L2 chr7 139746522 139746523 GT - 1/5(0.83) 186 6 het unknown deletion chr7 - - - 0.0392 intronic PARP12 Reference - - - - - - - - PARP12 chr7 139746522 139746525 GTGT - 1/5(0.83) 186 6 het unknown deletion chr7 rs60567609 - - 0.2426 intronic PARP12 Reference - - - - - - - - PARP12 chr7 139746522 139746527 GTGTGT - 1/5(0.83) 186 6 het unknown deletion chr7 rs140056689 - - 0.0049 intronic PARP12 Reference - - - - - - - - PARP12 chr7 139746600 139746601 GT - 19/18(0.49) 811 37 het unknown deletion chr7 - - - 0.1152 intronic PARP12 Reference - - - - - - - - PARP12 chr7 140048280 140048280 A - 8/3(0.27) 90 11 het unknown deletion chr7 - - - - intronic SLC37A3 Reference - - - - - - - - SLC37A3 chr7 140156834 140156835 TT - 2/4(0.67) 33 6 het unknown deletion chr7 rs61226924 - - 0.1225 intronic MKRN1 Reference - - - - - - - - MKRN1 chr7 140173010 140173010 - AAAAAAA 4/10(0.71) 219 14 hom unknown insertion chr7 - - - - intronic MKRN1 Reference - - - - - - - - MKRN1 chr7 141538090 141538090 G - 0/14(1.00) 520 14 hom unknown deletion chr7 rs75612846 0.25 - 0.1912 intronic PRSS37 Reference - - - - - - - - PRSS37 chr7 141635534 141635534 - C 9/5(0.36) 117 14 het unknown insertion chr7 rs200523567 0.93 - 0.3137 intronic CLEC5A Reference - - - - - - - - CLEC5A chr7 141635538 141635538 - A 5/9(0.64) 284 14 het unknown insertion chr7 rs5888023 0.87 - 0.3162 intronic CLEC5A Reference - - - - - - - - CLEC5A chr7 141733994 141733994 - TG 7/14(0.67) 779 21 het unknown insertion chr7 rs74902718 - - 0.4314 intronic MGAM Reference - - - - - - - - MGAM chr7 141752007 141752007 T - 16/22(0.58) 347 38 het unknown deletion chr7 rs145945149 - - 0.0319 intronic MGAM Reference - - - - - - - - MGAM chr7 141884683 141884684 AT - 5/7(0.58) 310 12 het unknown deletion chr7 rs76031018 0.35 - 0.2426 intergenic LOC93432;MOXD2P Reference - - - - - - - - LOC93432(dist=40900);MOXD2P(dist=55872) chr7 141885945 141885945 T - 25/16(0.39) 38 41 het unknown deletion chr7 rs111646116 - - 0.2966 intergenic LOC93432;MOXD2P Reference - - - - - - - - LOC93432(dist=42162);MOXD2P(dist=54611) chr7 141899660 141899660 - T 10/12(0.55) 60 22 het unknown insertion chr7 - - - 0.2966 intergenic LOC93432;MOXD2P Reference - - - - - - - - LOC93432(dist=55877);MOXD2P(dist=40896) chr7 142120168 142120168 - CA 1/17(0.94) 594 18 het unknown insertion chr7 rs57417024 - - 0.3284 intergenic LOC730441;MTRNR2L6 Reference - - - - - - - - MTRNR2L6(dist=253963);LOC730441(dist=148100) chr7 142120168 142120168 - CACA 1/17(0.94) 594 18 het unknown insertion chr7 - - - 0.0172 intergenic LOC730441;MTRNR2L6 Reference - - - - - - - - MTRNR2L6(dist=253963);LOC730441(dist=148100) chr7 142197522 142197529 GGTTTTCT - 6/7(0.54) 273 13 het unknown deletion chr7 - - - 0.2279 intergenic LOC730441;MTRNR2L6 Reference - - - - - - - - LOC730441(dist=225454);MTRNR2L6(dist=176602) chr7 142448200 142448207 GGTGGAAA - 12/9(0.43) 394 21 het unknown deletion chr7 rs200062193 0.24 0.492884 0.2402 intergenic MTRNR2L6;PRSS1 Reference - - - - - - - - MTRNR2L6(dist=72675);PRSS1(dist=9112) chr7 142459337 142459337 T - 6/6(0.50) 255 12 het unknown deletion chr7 - - - 0.0735 intronic PRSS1 Reference - - - - - - - - PRSS1 chr7 142460251 142460252 AC - 85/37(0.30) 1638 122 het unknown deletion chr7 - - - 0.2132 intronic PRSS1 Reference - - - - - - - - PRSS1 chr7 142460255 142460255 C - 85/38(0.31) 1361 123 het unknown deletion chr7 - - - 0.2059 intronic PRSS1 Reference - - - - - - - - PRSS1 chr7 142460429 142460431 CAA - 122/15(0.11) 384 137 het unknown deletion chr7 - - - 0.0343 intronic PRSS1 Reference - - - - - - - - PRSS1 chr7 142478771 142478771 - C 0/35(1.00) 2161 35 hom unknown insertion chr7 rs201689354 0.97 - 0.2328 ncRNA_exonic PRSS3P2 Reference - - - - - - - - PRSS3P2 chr7 142480182 142480182 - G 5/3(0.38) 125 8 het unknown insertion chr7 - - - 0.0956 ncRNA_intronic PRSS3P2 Reference - - - - - - - - PRSS3P2 chr7 142610003 142610003 - ATCT 1/3(0.75) 134 4 het unknown insertion chr7 - - - 0.1520 intronic TRPV5 Reference - - - - - - - - TRPV5 chr7 142625034 142625034 T - 5/3(0.38) 70 8 het unknown deletion chr7 rs4252420 0.04 - 0.0515 intronic TRPV5 Reference - - - - - - - - TRPV5 chr7 143079196 143079202 GCGCCCT - 7/7(0.50) 304 14 het unknown deletion chr7 rs71931732 0.19 - 0.1618 intronic ZYX Reference - - - - - - - - ZYX chr7 143208738 143208738 C - 0/17(1.00) 685 17 hom unknown deletion chr7 rs34333193 0.60 - 0.4069 ncRNA_intronic EPHA1-AS1 Reference - - - - - - - - EPHA1-AS1 chr7 143747482 143747482 C - 47/42(0.47) 2012 89 het unknown deletion chr7 rs79781351 0.69 0.191138 0.4951 upstream OR2A5 Reference - - - - - - - - OR2A5 chr7 143826730 143826732 CTT - 33/16(0.33) 699 49 het nonframeshift deletion chr7 rs66549240 0.73 - 0.6054 exonic OR2A14 Reference - - - - - - - - OR2A14,NM_001001659,exon1,c.525_527del,p.175_176del chr7 146805228 146805228 - G 0/17(1.00) 1028 17 hom unknown insertion chr7 rs35167289 0.35 0.417412 0.2843 intronic CNTNAP2 Reference - - - - - - - - CNTNAP2 chr7 148106475 148106475 - TT 0/85(1.00) 3070 85 hom unknown insertion chr7 - 0.29 - 0.2672 intronic CNTNAP2 Reference - - - - - - - - CNTNAP2 chr7 148106477 148106477 - TG 0/94(1.00) 3070 94 hom unknown insertion chr7 - - - 0.2696 intronic CNTNAP2 Reference - - - - - - - - CNTNAP2 chr7 148311115 148311115 - T 20/21(0.51) 1023 41 het unknown insertion chr7 - 0.59 0.536182 0.4583 intronic C7orf33 Reference - - - - - - - - C7orf33 chr7 148504717 148504717 G - 0/42(1.00) 1502 42 hom unknown deletion chr7 rs3217095 0.67 0.769409 0.4191 3-UTR EZH2 Reference - - - - - - - - EZH2 chr7 148504854 148504854 - GACTT 0/45(1.00) 2748 45 hom unknown insertion chr7 rs71529637 - - 0.3775 intronic EZH2 Reference - - - - - - - - EZH2 chr7 148543694 148543694 A - 2/68(0.97) 1267 70 hom unknown deletion chr7 rs3214332 - - 0.4093 intronic EZH2 Reference - - - - - - - - EZH2 chr7 148771257 148771257 - A 5/3(0.38) 125 8 het unknown insertion chr7 - 0.05 - 0.0735 intronic ZNF786 Reference - - - - - - - - ZNF786 chr7 148863415 148863421 AGCTCCA - 0/59(1.00) 3070 59 hom unknown deletion chr7 rs71990250 0.91 0.467866 0.5098 intronic ZNF398 Reference - - - - - - - - ZNF398 chr7 148936762 148936762 - CGG 0/4(1.00) 185 4 het unknown insertion chr7 rs141414617 - - 0.1789 5-UTR ZNF212 Reference - - - - - - - - ZNF212 chr7 148936762 148936762 - CGGCGGCGG 0/4(1.00) 185 4 het unknown insertion chr7 - - - 0.1912 5-UTR ZNF212 Reference - - - - - - - - ZNF212 chr7 149420820 149420820 - T 37/38(0.51) 2006 75 het unknown insertion chr7 rs71531643 0.51 0.720310 0.3897 intronic KRBA1 Reference - - - - - - - - KRBA1 chr7 149426305 149426305 - C 0/38(1.00) 2229 38 hom unknown insertion chr7 rs145097116 - - 0.5123 exonic KRBA1 Reference - - - - - - - - KRBA1 chr7 149476666 149476666 - C 0/44(1.00) 2214 44 hom splicing insertion chr7 rs111343201 - 0.999831 0.5172 splicing SSPO Reference - - - - - - - - NM_198455,exon10,c.1117-1->C) chr7 149506211 149506211 - C 0/46(1.00) 2854 46 hom frameshift insertion chr7 rs111744217 - - 0.5294 exonic SSPO Reference - - - - - - - - SSPO,NM_198455,exon63,c.9204dupC,p.S3068fs chr7 149510271 149510271 - AGA 3/3(0.50) 131 6 het unknown insertion chr7 rs3085319 - - 0.2108 intronic SSPO Reference - - - - - - - - SSPO chr7 149515189 149515189 A - 7/7(0.50) 244 14 het splicing deletion chr7 rs60594151 0.42 0.344955 0.3260 splicing SSPO Reference - - - - - - - - SSPO(NM_198455,exon80,c.11577+2A>-) chr7 149520153 149520153 A - 2/3(0.60) 85 5 het unknown deletion chr7 rs34522332 0.24 - 0.1446 intronic SSPO Reference - - - - - - - - SSPO chr7 149544682 149544691 GTGTGTGTGT - 2/3(0.60) 109 5 het unknown deletion chr7 rs10569456 - - 0.1618 intronic ZNF862 Reference - - - - - - - - ZNF862 chr7 149575748 149575748 G - 21/12(0.36) 524 33 het unknown deletion chr7 rs5888369 0.41 0.683838 0.3578 intronic ATP6V0E2 Reference - - - - - - - - ATP6V0E2 chr7 149589496 149589496 - C 55/31(0.36) 1629 86 het unknown insertion chr7 rs11428600 - - 0.5074 intergenic ATP6V0E2;ACTR3C Reference - - - - - - - - ACTR3C(dist=354805);ATP6V0E2(dist=11709) chr7 150218008 150218011 TAGT - 14/15(0.52) 701 29 het unknown deletion chr7 rs141933762 0.15 0.211965 0.1005 3-UTR GIMAP7 Reference - - - - - - - - GIMAP7 chr7 150490798 150490801 GACA - 5/5(0.50) 206 10 het unknown deletion chr7 rs72471023 0.55 - 0.3554 intronic TMEM176B Reference - - - - - - - - TMEM176B chr7 150558444 150558444 - CA 0/18(1.00) 1029 18 hom unknown insertion chr7 rs141517900 0.57 - 0.3382 downstream AOC1 Reference - - - - - - - - AOC1 chr7 150654622 150654622 - G 0/12(1.00) 713 12 hom unknown insertion chr7 rs72573482 - - 0.5637 intronic KCNH2 Reference - - - - - - - - KCNH2 chr7 150672162 150672162 - C 0/11(1.00) 579 11 hom unknown insertion chr7 rs5888422 - - 0.2721 intronic KCNH2 Reference - - - - - - - - KCNH2 chr7 150713902 150713902 - C 0/19(1.00) 1154 19 hom unknown insertion chr7 rs11393607 - - 0.6495 exonic ATG9B Reference - - - - - - - - ATG9B chr7 150916115 150916117 AGG - 0/40(1.00) 2166 40 hom unknown deletion chr7 rs35656219 0.68 0.376038 0.4632 intronic ABCF2 Reference - - - - - - - - ABCF2 chr7 150937377 150937377 - G 0/44(1.00) 2556 44 hom unknown insertion chr7 rs140931511 - - 0.5637 intronic SMARCD3 Reference - - - - - - - - SMARCD3 chr7 151057397 151057397 C - 55/51(0.48) 1919 106 het unknown deletion chr7 rs3217033 0.45 - 0.3725 intronic NUB1 Reference - - - - - - - - NUB1 chr7 151168416 151168418 AAT - 10/10(0.50) 452 20 het unknown deletion chr7 rs35526149 0.44 0.377301 0.3015 intronic RHEB Reference - - - - - - - - RHEB chr7 151292395 151292395 - T 0/15(1.00) 901 15 hom unknown insertion chr7 rs35348247 0.96 0.706949 0.4118 intronic PRKAG2 Reference - - - - - - - - PRKAG2 chr7 151866390 151866390 A - 4/4(0.50) 83 8 het unknown deletion chr7 rs3837083 0.16 0.046590 0.1495 intronic KMT2C Reference - - - - - - - - KMT2C chr7 151882623 151882624 AG - 23/5(0.18) 153 28 het unknown deletion chr7 rs147937873 - - 0.0319 intronic KMT2C Reference - - - - - - - - KMT2C chr7 151896573 151896573 - GTTA 3/8(0.73) 431 11 het unknown insertion chr7 rs3837082 0.15 0.116132 0.1471 intronic KMT2C Reference - - - - - - - - KMT2C chr7 151945071 151945071 - T 300/94(0.24) 3070 394 het stopgain SNV chr7 - - - 0.2059 exonic KMT2C Reference - - - - - - - - KMT2C,NM_170606,exon14,c.2447dupA,p.Y816_I817delinsX chr7 151971053 151971053 A - 6/14(0.70) 499 20 het unknown deletion chr7 rs113668795 - - 0.2647 intronic KMT2C Reference - - - - - - - - KMT2C chr7 154461251 154461252 TG - 0/8(1.00) 358 8 het unknown deletion chr7 - - - - intronic DPP6 Reference - - - - - - - - DPP6 chr7 154461249 154461252 TGTG - 0/8(1.00) 358 8 het unknown deletion chr7 rs35719981 - - 0.2108 intronic DPP6 Reference - - - - - - - - DPP6 chr7 154564678 154564678 A - 16/17(0.52) 52 33 het unknown deletion chr7 rs11291131 - - 0.2475 intronic DPP6 Reference - - - - - - - - DPP6 chr7 154645419 154645419 - TTTTC 0/62(1.00) 3070 62 hom unknown insertion chr7 rs145928686 0.80 0.410714 0.4240 intronic DPP6 Reference - - - - - - - - DPP6 chr7 154681142 154681142 - T 8/12(0.60) 73 20 hom unknown insertion chr7 - - - 0.0613 intronic DPP6 Reference - - - - - - - - DPP6 chr7 155174802 155174807 TGTGAG - 8/15(0.65) 718 23 het unknown deletion chr7 rs147883222 0.73 - 0.3358 intergenic BLACE;EN2 Reference - - - - - - - - BLACE(dist=14174);EN2(dist=76017) chr7 155599631 155599655 GCCCCCACGTTGCCCTCCACTTCTA - 3/3(0.50) 107 6 het unknown deletion chr7 rs9333616 0.05 - 0.0613 intronic SHH Reference - - - - - - - - SHH chr7 156529062 156529062 - AGT 2/9(0.82) 494 11 het unknown insertion chr7 rs140967157 0.82 - 0.3235 intronic LMBR1 Reference - - - - - - - - LMBR1 chr7 156759598 156759602 TATAT - 24/19(0.44) 880 43 het unknown deletion chr7 rs34856615 0.27 - 0.2157 intronic NOM1 Reference - - - - - - - - NOM1 chr7 156932094 156932094 - GGACTCGGGGTT 3/11(0.79) 481 14 het unknown insertion chr7 rs200844106 0.79 - 0.0907 intronic UBE3C Reference - - - - - - - - UBE3C chr7 156981501 156981501 - G 1/5(0.83) 257 6 het unknown insertion chr7 rs200881738 0.05 - 0.0245 intronic UBE3C Reference - - - - - - - - UBE3C chr7 157341557 157341557 C - 0/15(1.00) 626 15 hom unknown deletion chr7 rs3214337 0.52 - 0.3456 intronic PTPRN2 Reference - - - - - - - - PTPRN2 chr7 157462118 157462119 CA - 19/4(0.17) 112 23 het unknown deletion chr7 - - - - intronic PTPRN2 Reference - - - - - - - - PTPRN2 chr7 157929246 157929246 - A 32/27(0.46) 742 59 het unknown insertion chr7 rs3839696 - - 0.3750 intronic PTPRN2 Reference - - - - - - - - PTPRN2 chr7 158325310 158325310 - AA 0/39(1.00) 1731 39 hom unknown insertion chr7 rs112868928 - - 0.4363 intronic PTPRN2 Reference - - - - - - - - PTPRN2 chr7 158479930 158479930 - C 13/5(0.28) 220 18 het unknown insertion chr7 - - - 0.1520 intronic NCAPG2 Reference - - - - - - - - NCAPG2 chr7 158479931 158479931 - TCTA 13/5(0.28) 220 18 het unknown insertion chr7 - - - 0.1544 intronic NCAPG2 Reference - - - - - - - - NCAPG2 chr7 158534691 158534692 TT - 1/6(0.86) 218 7 het unknown deletion chr7 rs34849374 0.54 - 0.3235 intronic ESYT2 Reference - - - - - - - - ESYT2 chr7 158662511 158662511 - TTTAAAC 6/4(0.40) 181 10 het unknown insertion chr7 rs5888773 0.65 0.428381 0.3137 intronic WDR60 Reference - - - - - - - - WDR60 chr7 158726798 158726798 - C 0/19(1.00) 1154 19 hom unknown insertion chr7 rs34181207 0.95 0.844006 0.3652 intronic WDR60 Reference - - - - - - - - WDR60 chr7 158727015 158727015 - T 0/24(1.00) 1313 24 hom unknown insertion chr7 - 0.93 - 0.4020 intronic WDR60 Reference - - - - - - - - WDR60 chr8 494659 494664 GGCGGC - 7/4(0.36) 132 11 het nonframeshift deletion chr8 rs71202629 - - 0.1814 exonic TDRP Reference - - - - - - - - TDRP,NM_001256113,exon1,c.94_99del,p.32_33del;TDRP,NM_175075,exon2,c.94_99del,p.32_33del chr8 643083 643094 CAGACACACATG - 1/3(0.75) 113 4 het unknown deletion chr8 rs144519322 - - 0.1887 intronic ERICH1 Reference - - - - - - - - ERICH1 chr8 1806046 1806053 ATCTATCT - 2/2(0.50) 56 4 het unknown deletion chr8 - - - 0.0319 intronic ARHGEF10 Reference - - - - - - - - ARHGEF10 chr8 1806369 1806369 A - 3/4(0.57) 160 7 het unknown deletion chr8 - - - 0.0392 intronic ARHGEF10 Reference - - - - - - - - ARHGEF10 chr8 1814571 1814572 AT - 2/8(0.80) 354 10 het unknown deletion chr8 - - - 0.1495 intronic ARHGEF10 Reference - - - - - - - - ARHGEF10 chr8 1814589 1814598 ACACACACAC - 2/13(0.87) 630 15 het unknown deletion chr8 - - - 0.0392 intronic ARHGEF10 Reference - - - - - - - - ARHGEF10 chr8 1817655 1817655 - T 2/5(0.71) 254 7 het unknown insertion chr8 rs34413327 0.58 - 0.2672 intronic ARHGEF10 Reference - - - - - - - - ARHGEF10 chr8 1833691 1833692 TT - 0/11(1.00) 280 11 hom unknown deletion chr8 rs147227695 - - 0.2010 intronic ARHGEF10 Reference - - - - - - - - ARHGEF10 chr8 2020377 2020377 - CCTCCATCGTTTC 6/16(0.73) 909 22 het unknown insertion chr8 - - - 0.1152 intronic MYOM2 Reference - - - - - - - - MYOM2 chr8 2057441 2057441 - G 6/3(0.33) 87 9 het unknown insertion chr8 rs71528666 0.18 - 0.1544 intronic MYOM2 Reference - - - - - - - - MYOM2 chr8 2071261 2071261 - GAC 0/74(1.00) 3070 74 hom unknown insertion chr8 rs71270475 - - 0.4363 intronic MYOM2 Reference - - - - - - - - MYOM2 chr8 2112080 2112080 - TT 1/51(0.98) 1053 52 hom unknown insertion chr8 - - - 0.2745 intergenic MYOM2;CSMD1 Reference - - - - - - - - MYOM2(dist=18700);CSMD1(dist=680795) chr8 2806920 2806920 - AAAGAAAAGA 0/32(1.00) 1941 32 hom unknown insertion chr8 - - - 0.2966 intronic CSMD1 Reference - - - - - - - - CSMD1 chr8 2836108 2836108 - GAAATTGG 16/12(0.43) 631 28 het unknown insertion chr8 rs144901458 0.02 - 0.0172 intronic CSMD1 Reference - - - - - - - - CSMD1 chr8 3046636 3046639 TACA - 20/12(0.38) 527 32 het unknown deletion chr8 rs199581353 - - 0.1618 intronic CSMD1 Reference - - - - - - - - CSMD1 chr8 3443799 3443799 - A 27/15(0.36) 167 42 het unknown insertion chr8 - - - 0.0392 intronic CSMD1 Reference - - - - - - - - CSMD1 chr8 3855370 3855370 A - 13/14(0.52) 394 27 het unknown deletion chr8 rs11303985 0.36 - 0.3088 intronic CSMD1 Reference - - - - - - - - CSMD1 chr8 6673378 6673378 A - 0/103(1.00) 3070 103 hom splicing deletion chr8 rs11338621 - - 0.6544 splicing XKR5 Reference - - - - - - - - NM_207411,exon8,c.870-1T>-) chr8 8234868 8234868 - GCCGCT 2/67(0.97) 3070 69 hom nonframeshift insertion chr8 rs150979349 - - 0.5686 exonic SGK223 Reference - - - - - - - - SGK223,NM_001080826,exon2,c.1050_1051insAGCGGC,p.A351delinsSGA chr8 10467569 10467571 CTC - 291/46(0.14) 1504 337 het nonframeshift deletion chr8 - - - 0.0515 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon4,c.4037_4039del,p.1346_1347del chr8 10467579 10467581 TTC - 284/64(0.18) 2456 348 het nonframeshift deletion chr8 rs143686100 - - 0.1348 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon4,c.4027_4029del,p.1343_1343del chr8 10467629 10467629 - TTC 289/104(0.26) 3070 393 het nonframeshift insertion chr8 rs146656804 - - 0.1078 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon4,c.3978_3979insGAA,p.T1327delinsET chr8 10467671 10467673 CTC - 310/56(0.15) 1919 366 het nonframeshift deletion chr8 - - - 0.1078 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon4,c.3935_3937del,p.1312_1313del chr8 10467681 10467686 TCCTTC - 327/38(0.10) 969 365 het nonframeshift deletion chr8 - - - 0.0490 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon4,c.3922_3927del,p.1308_1309del chr8 10467706 10467706 - CCC 288/45(0.14) 1610 333 het nonframeshift insertion chr8 - - - 0.0074 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon4,c.3901_3902insGGG,p.V1301delinsGV chr8 10480295 10480295 - G 22/18(0.45) 763 40 het frameshift insertion chr8 rs201192645 0.04 - 0.0441 exonic RP1L1 Reference - - - - - - - - RP1L1,NM_178857,exon2,c.416dupC,p.P139fs chr8 11142389 11142389 - G 1/43(0.98) 1876 44 hom unknown insertion chr8 - 0.87 0.651271 0.4975 5-UTR MTMR9 Reference - - - - - - - - MTMR9 chr8 11614264 11614264 A - 1/3(0.75) 114 4 het unknown deletion chr8 rs111272281 0.33 - 0.2426 intronic GATA4 Reference - - - - - - - - GATA4 chr8 11643816 11643816 C - 0/18(1.00) 951 18 hom unknown deletion chr8 rs112384557 0.25 0.269184 0.2770 3-UTR NEIL2 Reference - - - - - - - - NEIL2 chr8 11666219 11666224 TCCCAC - 0/80(1.00) 3070 80 hom unknown deletion chr8 rs71711801 - - 0.4510 intronic FDFT1 Reference - - - - - - - - FDFT1 chr8 11689009 11689011 TCT - 0/31(1.00) 1655 31 hom unknown deletion chr8 rs139572326 0.22 0.011502 0.2917 intronic FDFT1 Reference - - - - - - - - FDFT1 chr8 12950089 12950090 CT - 0/14(1.00) 730 14 hom unknown deletion chr8 rs147866975 0.60 0.249281 0.4289 intronic DLC1 Reference - - - - - - - - DLC1 chr8 12952175 12952175 A - 5/60(0.92) 1030 65 hom unknown deletion chr8 rs5889417 - - 0.4632 intronic DLC1 Reference - - - - - - - - DLC1 chr8 13965582 13965582 T - 0/11(1.00) 448 11 hom unknown deletion chr8 rs11336839 0.99 - 0.3627 intronic SGCZ Reference - - - - - - - - SGCZ chr8 14095008 14095008 - AACA 62/42(0.40) 2290 104 het unknown insertion chr8 - - - 0.3186 intronic SGCZ Reference - - - - - - - - SGCZ chr8 15615180 15615181 CT - 5/4(0.44) 154 9 het unknown deletion chr8 rs144349074 0.29 - 0.2132 intronic TUSC3 Reference - - - - - - - - TUSC3 chr8 17042129 17042129 - CT 0/17(1.00) 1028 17 hom unknown insertion chr8 rs75130109 - - 0.3480 intronic ZDHHC2 Reference - - - - - - - - ZDHHC2 chr8 17401365 17401367 CTT - 0/16(1.00) 841 16 hom unknown deletion chr8 - - - 0.3848 intronic SLC7A2 Reference - - - - - - - - SLC7A2 chr8 17406368 17406368 T - 2/31(0.94) 525 33 hom unknown deletion chr8 rs11373918 - - 0.4314 intronic SLC7A2 Reference - - - - - - - - SLC7A2 chr8 17916599 17916599 T - 0/21(1.00) 730 21 hom unknown deletion chr8 rs33985304 0.85 - 0.3480 intronic ASAH1 Reference - - - - - - - - ASAH1 chr8 18656889 18656889 G - 45/36(0.44) 1705 81 het unknown deletion chr8 rs3214999 0.42 0.366693 0.3211 intronic PSD3 Reference - - - - - - - - PSD3 chr8 20007090 20007090 - CTCTCC 2/10(0.83) 482 12 het unknown insertion chr8 - - - 0.0098 intronic SLC18A1 Reference - - - - - - - - SLC18A1 chr8 20069273 20069273 - AGTT 19/14(0.42) 742 33 het unknown insertion chr8 rs142952762 0.17 0.201997 0.1814 intronic ATP6V1B2 Reference - - - - - - - - ATP6V1B2 chr8 21768381 21768384 AGAG - 9/15(0.62) 715 24 het unknown deletion chr8 rs142797319 0.31 0.086929 0.3529 intronic DOK2 Reference - - - - - - - - DOK2 chr8 21827880 21827880 - ACAC 1/3(0.75) 154 4 het unknown insertion chr8 rs140784168 - - 0.2304 intronic XPO7 Reference - - - - - - - - XPO7 chr8 22035248 22035248 - G 0/129(1.00) 3070 129 hom unknown insertion chr8 rs75016937 - 0.350719 0.4265 intronic BMP1 Reference - - - - - - - - BMP1 chr8 23020930 23020933 GAAC - 2/5(0.71) 215 7 het unknown deletion chr8 rs112978169 - - 0.2549 intronic TNFRSF10D Reference - - - - - - - - TNFRSF10D chr8 23059266 23059266 C - 0/34(1.00) 1540 34 hom unknown deletion chr8 rs11294851 0.98 - 0.4657 intronic TNFRSF10A Reference - - - - - - - - TNFRSF10A chr8 23150773 23150776 TGCT - 0/59(1.00) 3070 59 hom unknown deletion chr8 rs72237352 0.59 0.331542 0.4216 intronic R3HCC1 Reference - - - - - - - - R3HCC1 chr8 23152411 23152412 TG - 38/9(0.19) 317 47 het unknown deletion chr8 rs137952235 - - 0.0294 intronic R3HCC1 Reference - - - - - - - - R3HCC1 chr8 23559917 23559917 - G 7/15(0.68) 742 22 het unknown insertion chr8 rs146685693 0.23 0.156845 0.1814 downstream NKX2-6 Reference - - - - - - - - NKX2-6 chr8 24211884 24211884 - TGTC 0/18(1.00) 1091 18 hom unknown insertion chr8 rs10694022 - 0.977924 0.3971 intronic ADAM28 Reference - - - - - - - - ADAM28 chr8 24211994 24211997 CTAT - 0/32(1.00) 1699 32 hom unknown deletion chr8 rs145069653 - 0.975218 0.4044 3-UTR ADAM28 Reference - - - - - - - - ADAM28 chr8 24339897 24339897 A - 6/9(0.60) 177 15 het unknown deletion chr8 rs11348969 0.28 - 0.2083 intronic ADAM7 Reference - - - - - - - - ADAM7 chr8 24359126 24359127 TT - 23/18(0.44) 150 41 het unknown deletion chr8 - - 0.279875 0.1569 intronic ADAM7 Reference - - - - - - - - ADAM7 chr8 24811065 24811065 G - 0/29(1.00) 914 29 hom splicing deletion chr8 rs11300136 0.99 0.999742 0.5294 splicing NEFL Reference - - - - - - - - NM_006158,exon5,c.1414-1C>-) chr8 25158073 25158073 T - 0/101(1.00) 2577 101 hom unknown deletion chr8 rs5890219 - 0.895767 0.4191 intronic DOCK5 Reference - - - - - - - - DOCK5 chr8 25231117 25231117 - T 20/9(0.31) 157 29 het unknown insertion chr8 rs3215159 - - 0.3088 intronic DOCK5 Reference - - - - - - - - DOCK5 chr8 25247822 25247822 A - 13/15(0.54) 69 28 het unknown deletion chr8 rs113940021 - - 0.2623 intronic DOCK5 Reference - - - - - - - - DOCK5 chr8 25253433 25253433 - A 6/6(0.50) 302 12 het unknown insertion chr8 - 0.05 - 0.0221 intronic DOCK5 Reference - - - - - - - - DOCK5 chr8 25744092 25744092 A - 3/5(0.62) 150 8 het unknown deletion chr8 rs3841181 0.10 - 0.1152 intronic EBF2 Reference - - - - - - - - EBF2 chr8 25902172 25902172 G - 2/4(0.67) 59 6 het unknown deletion chr8 rs11135911 - - 0.2892 intronic EBF2 Reference - - - - - - - - EBF2 chr8 26484039 26484040 GT - 17/3(0.15) 66 20 het unknown deletion chr8 - - - - intronic DPYSL2 Reference - - - - - - - - DPYSL2 chr8 26614707 26614707 T - 0/100(1.00) 3070 100 hom unknown deletion chr8 rs11309325 - - 0.3873 intronic ADRA1A Reference - - - - - - - - ADRA1A chr8 26623477 26623477 - TTGTGAAAAGAAA 0/25(1.00) 1531 25 hom unknown insertion chr8 rs34651910 0.88 - 0.3775 3-UTR ADRA1A Reference - - - - - - - - ADRA1A chr8 27326839 27326840 GG - 0/113(1.00) 3070 113 hom unknown deletion chr8 rs139680977 0.68 0.459409 0.4436 intronic CHRNA2 Reference - - - - - - - - CHRNA2 chr8 27461773 27461773 A - 7/9(0.56) 409 16 het unknown deletion chr8 rs3216167 0.49 0.244169 0.3554 intronic CLU Reference - - - - - - - - CLU chr8 27649359 27649361 TCT - 6/4(0.40) 151 10 het unknown deletion chr8 rs35880563 0.32 - 0.2328 intronic ESCO2 Reference - - - - - - - - ESCO2 chr8 27649426 27649426 - T 17/18(0.51) 423 35 het unknown insertion chr8 rs11414844 0.61 0.405431 0.3946 intronic ESCO2 Reference - - - - - - - - ESCO2 chr8 27661066 27661066 - AC 1/3(0.75) 137 4 het unknown insertion chr8 rs144484866 - - 0.2451 3-UTR ESCO2 Reference - - - - - - - - ESCO2 chr8 27685522 27685522 C - 2/3(0.60) 85 5 het unknown deletion chr8 rs78755489 0.36 - 0.2255 intronic PBK Reference - - - - - - - - PBK chr8 27779880 27779880 - A 0/23(1.00) 1137 23 hom unknown insertion chr8 - 0.62 - 0.3725 intronic SCARA5 Reference - - - - - - - - SCARA5 chr8 28016003 28016009 AATAAAG - 2/3(0.60) 110 5 het unknown deletion chr8 rs149274779 0.60 - 0.3456 intronic ELP3 Reference - - - - - - - - ELP3 chr8 28651558 28651563 ATAAAG - 7/5(0.42) 200 12 het unknown deletion chr8 rs71551607 - - 0.3578 intronic INTS9 Reference - - - - - - - - INTS9 chr8 28707623 28707623 A - 18/11(0.38) 39 29 het unknown deletion chr8 - - - 0.0196 intronic INTS9 Reference - - - - - - - - INTS9 chr8 28989771 28989771 - A 3/5(0.62) 60 8 het unknown insertion chr8 - - - 0.0441 intronic KIF13B Reference - - - - - - - - KIF13B chr8 29023421 29023421 - TCGATTGTAGATCGAAGTACC 0/15(1.00) 875 15 hom unknown insertion chr8 - - - 0.3382 intronic KIF13B Reference - - - - - - - - KIF13B chr8 29203138 29203138 T - 4/5(0.56) 166 9 het unknown deletion chr8 rs3215218 0.60 - 0.3211 5-UTR DUSP4 Reference - - - - - - - - DUSP4 chr8 30620840 30620840 - T 0/35(1.00) 1752 35 hom unknown insertion chr8 rs11388922 - 0.997742 0.4853 exonic UBXN8 Reference - - - - - - - - UBXN8 chr8 30958354 30958354 T - 0/25(1.00) 782 25 hom unknown deletion chr8 rs3087419 - 0.978355 0.4951 intronic WRN Reference - - - - - - - - WRN chr8 31005017 31005017 - C 0/31(1.00) 1909 31 hom unknown insertion chr8 - 0.99 0.972684 0.4436 intronic WRN Reference - - - - - - - - WRN chr8 33313422 33313422 A - 10/12(0.55) 43 22 het unknown deletion chr8 - - - 0.2721 intronic FUT10 Reference - - - - - - - - FUT10 chr8 35563425 35563428 TTTC - 2/4(0.67) 163 6 het unknown deletion chr8 rs149922303 0.05 0.010871 0.0441 intronic UNC5D Reference - - - - - - - - UNC5D chr8 38006331 38006331 C - 0/49(1.00) 2134 49 hom unknown deletion chr8 rs35520501 - - 0.4240 intronic STAR Reference - - - - - - - - STAR chr8 38029688 38029688 - A 2/3(0.60) 66 5 het unknown insertion chr8 - - - 0.2083 intronic LSM1 Reference - - - - - - - - LSM1 chr8 38125067 38125067 - CTTA 4/5(0.56) 247 9 het unknown insertion chr8 rs111992593 0.32 - 0.2059 intronic PPAPDC1B Reference - - - - - - - - PPAPDC1B chr8 38125397 38125397 T - 34/27(0.44) 1034 61 het unknown deletion chr8 rs3215009 0.09 0.050710 0.0882 intronic PPAPDC1B Reference - - - - - - - - PPAPDC1B chr8 38370201 38370210 AGACACAGAC - 7/4(0.36) 148 11 het unknown deletion chr8 rs146268311 0.70 0.623598 0.3456 intronic C8orf86 Reference - - - - - - - - C8orf86 chr8 38827186 38827186 C - 0/59(1.00) 2705 59 hom splicing deletion chr8 rs5891050 0.99 0.999913 0.5245 splicing PLEKHA2 Reference - - - - - - - - NM_021623,exon13,c.1163-1C>-) chr8 38854439 38854455 GCGCGCGTGCTCGTCGG - 9/12(0.57) 569 21 het unknown deletion chr8 rs200300781 0.01 - 0.0147 upstream ADAM9;TM2D2 Reference - - - - - - - - ADAM9;TM2D2 chr8 38884342 38884342 - TTCT 40/39(0.49) 2179 79 het unknown insertion chr8 rs10652213 - 0.790016 0.5564 intronic ADAM9 Reference - - - - - - - - ADAM9 chr8 38928984 38928984 C - 7/5(0.42) 220 12 het unknown deletion chr8 - - - - intronic ADAM9 Reference - - - - - - - - ADAM9 chr8 39128511 39128511 T - 11/10(0.48) 156 21 het unknown deletion chr8 rs11347842 - 0.219601 0.2475 intronic ADAM32 Reference - - - - - - - - ADAM32 chr8 39871298 39871298 - TAA 2/12(0.86) 196 14 het unknown insertion chr8 rs67880804 - - 0.2157 intronic IDO2 Reference - - - - - - - - IDO2 chr8 39871298 39871298 - TTAA 2/12(0.86) 196 14 het unknown insertion chr8 - - - 0.0956 intronic IDO2 Reference - - - - - - - - IDO2 chr8 39872677 39872677 A - 0/12(1.00) 231 12 hom unknown deletion chr8 rs5891076 - - 0.4191 intronic IDO2 Reference - - - - - - - - IDO2 chr8 40389934 40389935 AA - 0/11(1.00) 428 11 hom unknown deletion chr8 rs4038741 0.98 - 0.3088 intronic ZMAT4 Reference - - - - - - - - ZMAT4 chr8 41166638 41166640 GCT - 0/18(1.00) 951 18 hom nonframeshift deletion chr8 rs144518405 0.41 0.259952 0.2819 exonic SFRP1 Reference - - - - - - - - SFRP1,NM_003012,exon1,c.39_41del,p.13_14del chr8 41517958 41517958 - G 0/36(1.00) 2224 36 hom unknown insertion chr8 - - 0.999778 0.4069 intronic ANK1 Reference - - - - - - - - ANK1 chr8 41794797 41794799 TCT - 80/66(0.45) 3070 146 het nonframeshift deletion chr8 rs201760077 0.03 - 0.0760 exonic KAT6A Reference - - - - - - - - KAT6A,NM_001099413,exon17,c.3327_3329del,p.1109_1110del;KAT6A,NM_001099412,exon17,c.3327_3329del,p.1109_1110del;KAT6A,NM_006766,exon16,c.3327_3329del,p.1109_1110del chr8 48069426 48069427 AA - 0/17(1.00) 251 17 hom unknown deletion chr8 rs57219415 - - 0.3505 intergenic LINC00293;LOC100287846 Reference - - - - - - - - LOC100287846(dist=31503);LINC00293(dist=302019) chr8 48320564 48320564 T - 0/16(1.00) 841 16 hom unknown deletion chr8 rs34569190 0.65 0.495467 0.3358 intronic SPIDR Reference - - - - - - - - SPIDR chr8 48805816 48805816 - G 0/69(1.00) 3070 69 hom unknown insertion chr8 rs11411516 - - 0.5343 exonic PRKDC Reference - - - - - - - - PRKDC chr8 51664541 51664541 - T 4/5(0.56) 91 9 het unknown insertion chr8 - 0.29 - 0.2672 intronic SNTG1 Reference - - - - - - - - SNTG1 chr8 52233299 52233299 - AGG 5/8(0.62) 425 13 het unknown insertion chr8 rs3217441 0.33 0.420457 0.2672 intronic PXDNL Reference - - - - - - - - PXDNL chr8 52233308 52233308 - AC 9/5(0.36) 232 14 het unknown insertion chr8 - - 0.316498 0.1348 intronic PXDNL Reference - - - - - - - - PXDNL chr8 52284654 52284654 - A 6/5(0.45) 51 11 het unknown insertion chr8 rs35149717 - - 0.3505 intronic PXDNL Reference - - - - - - - - PXDNL chr8 52733340 52733340 - T 7/3(0.30) 37 10 het unknown insertion chr8 - 0.60 - 0.3088 intronic PCMTD1 Reference - - - - - - - - PCMTD1 chr8 53077958 53077958 T - 0/14(1.00) 730 14 hom unknown deletion chr8 rs58660248 0.19 - 0.1201 intronic ST18 Reference - - - - - - - - ST18 chr8 53452359 53452359 - A 8/19(0.70) 186 27 het unknown insertion chr8 rs34909407 - - 0.3676 intronic FAM150A Reference - - - - - - - - FAM150A chr8 53452489 53452489 A - 44/50(0.53) 2005 94 het unknown deletion chr8 rs138991643 0.05 0.161102 0.0441 intronic FAM150A Reference - - - - - - - - FAM150A chr8 57353827 57353827 G - 12/16(0.57) 759 28 het unknown deletion chr8 rs3839874 0.37 0.334239 0.3039 3-UTR PENK Reference - - - - - - - - PENK chr8 57358564 57358564 G - 0/15(1.00) 599 15 hom unknown deletion chr8 rs3840716 0.90 0.806998 0.5196 5-UTR PENK Reference - - - - - - - - PENK chr8 59508245 59508245 T - 14/19(0.58) 910 33 het unknown deletion chr8 rs55965030 0.27 0.245847 0.2770 intronic NSMAF Reference - - - - - - - - NSMAF chr8 59535859 59535859 - CG 10/11(0.52) 590 21 het unknown insertion chr8 rs112550046 - - 0.2206 intronic NSMAF Reference - - - - - - - - NSMAF chr8 59852168 59852168 - AC 0/25(1.00) 1531 25 hom unknown insertion chr8 rs35028361 - - 0.3971 intronic TOX Reference - - - - - - - - TOX chr8 61713126 61713126 - TGGACT 0/55(1.00) 3070 55 hom unknown insertion chr8 rs112021443 - 0.746549 0.4804 intronic CHD7 Reference - - - - - - - - CHD7 chr8 62371122 62371122 - C 37/15(0.29) 183 52 het unknown insertion chr8 - - - 0.1127 intronic CLVS1 Reference - - - - - - - - CLVS1 chr8 62411925 62411925 - AAAT 23/16(0.41) 849 39 het unknown insertion chr8 rs78360836 0.50 - 0.3015 intronic CLVS1 Reference - - - - - - - - CLVS1 chr8 62550924 62550924 - A 15/14(0.48) 102 29 het splicing insertion chr8 rs34108497 - - 0.2083 splicing ASPH Reference - - - - - - - - NM_001164753,exon12,c.620-2->T;NM_032466,exon12,c.791-2->T;NM_001164754,exon11,c.734-2->T;NM_001164755,exon11,c.662-2->T;NM_001164750,exon12,c.704-2->T;ASPH(NM_004318,exon12,c.791-2->T;NM_032468,exon13,c.749-2->T) chr8 63948186 63948187 AA - 0/49(1.00) 352 49 hom unknown deletion chr8 rs199816014 - - 0.4020 intronic GGH Reference - - - - - - - - GGH chr8 63978659 63978659 A - 0/73(1.00) 2097 73 hom unknown deletion chr8 rs5891887 - 0.999920 0.5049 intronic TTPA Reference - - - - - - - - TTPA chr8 64098729 64098729 - G 0/26(1.00) 1594 26 hom unknown insertion chr8 rs58419856 - - 0.5025 exonic YTHDF3 Reference - - - - - - - - YTHDF3 chr8 69003010 69003010 T - 6/7(0.54) 247 13 het unknown deletion chr8 rs34882769 0.51 - 0.3309 intronic PREX2 Reference - - - - - - - - PREX2 chr8 72755647 72755647 - T 0/87(1.00) 3070 87 hom unknown insertion chr8 rs71555600 0.22 - 0.1789 ncRNA_exonic LOC100132891 Reference - - - - - - - - LOC100132891 chr8 72975620 72975620 A - 0/14(1.00) 236 14 hom unknown deletion chr8 rs34929058 - - 0.3382 intronic TRPA1 Reference - - - - - - - - TRPA1 chr8 74231476 74231476 - GG 20/22(0.52) 1219 42 het unknown insertion chr8 - 0.12 0.086581 0.1691 intronic RDH10 Reference - - - - - - - - RDH10 chr8 74233349 74233349 - A 34/33(0.49) 1836 67 het unknown insertion chr8 - 0.34 0.395847 0.3260 intronic RDH10 Reference - - - - - - - - RDH10 chr8 79629738 79629738 - A 7/8(0.53) 54 15 het unknown insertion chr8 - - - 0.3578 3-UTR ZC2HC1A Reference - - - - - - - - ZC2HC1A chr8 80678300 80678300 - A 10/19(0.66) 637 29 het unknown insertion chr8 - 0.47 - 0.3333 intronic HEY1 Reference - - - - - - - - HEY1 chr8 81083599 81083610 AAGCCCGAGTCC - 0/25(1.00) 1258 25 hom unknown deletion chr8 rs201086010 0.62 0.407400 0.3137 intronic TPD52 Reference - - - - - - - - TPD52 chr8 81425957 81425963 TAACCAG - 4/9(0.69) 417 13 het unknown deletion chr8 rs35652875 0.20 - 0.1863 intronic ZBTB10 Reference - - - - - - - - ZBTB10 chr8 81426293 81426293 - A 0/14(1.00) 839 14 hom unknown insertion chr8 rs147305104 0.23 0.392519 0.2304 intronic ZBTB10 Reference - - - - - - - - ZBTB10 chr8 82441532 82441532 - G 8/10(0.56) 536 18 het unknown insertion chr8 rs3842190 0.22 - 0.1838 intronic FABP12 Reference - - - - - - - - FABP12 chr8 82586291 82586291 - A 6/6(0.50) 260 12 het unknown insertion chr8 rs3214541 0.09 - 0.0931 intronic IMPA1 Reference - - - - - - - - IMPA1 chr8 85799828 85799828 C - 0/29(1.00) 709 29 hom unknown deletion chr8 rs10712255 - - 0.4559 intronic RALYL Reference - - - - - - - - RALYL chr8 86126827 86126827 - AACATT 0/23(1.00) 1405 23 hom nonframeshift insertion chr8 rs112611553 - 0.996366 0.4314 exonic C8orf59 Reference - - - - - - - - C8orf59,NM_001099671,exon5,c.264_265insAATGTT,p.D89delinsNVD;C8orf59,NM_001099670,exon5,c.264_265insAATGTT,p.D89delinsNVD;C8orf59,NM_001099673,exon4,c.264_265insAATGTT,p.D89delinsNVD;C8orf59,NM_001099672,exon5,c.264_265insAATGTT,p.D89delinsNVD chr8 87226635 87226642 CCGACATC - 10/5(0.33) 192 15 het frameshift deletion chr8 rs56993779 0.33 0.097793 0.2696 exonic SLC7A13 Reference - - - - - - - - SLC7A13,NM_138817,exon4,c.1413_1511del,p.471_471del chr8 87241797 87241797 - T 1/78(0.99) 2705 79 hom unknown insertion chr8 rs11455946 0.46 0.263978 0.3554 intronic SLC7A13 Reference - - - - - - - - SLC7A13 chr8 87489563 87489564 AC - 0/16(1.00) 841 16 hom unknown deletion chr8 rs66648775 0.59 0.223697 0.3235 intronic RMDN1 Reference - - - - - - - - RMDN1 chr8 91929653 91929653 A - 0/24(1.00) 372 24 hom unknown deletion chr8 rs34544744 - - 0.3578 intronic NECAB1 Reference - - - - - - - - NECAB1 chr8 91963467 91963467 T - 15/22(0.59) 790 37 het unknown deletion chr8 rs34782158 0.36 0.217594 0.3015 intronic NECAB1 Reference - - - - - - - - NECAB1 chr8 95160950 95160950 T - 9/16(0.64) 30 25 het unknown deletion chr8 - - - 0.1789 intronic CDH17 Reference - - - - - - - - CDH17 chr8 95521853 95521853 - AC 22/14(0.39) 698 36 het unknown insertion chr8 rs138207070 - - 0.1814 intronic KIAA1429 Reference - - - - - - - - KIAA1429 chr8 95658562 95658562 - AAAT 5/8(0.62) 425 13 het unknown insertion chr8 rs201197980 - 0.564599 0.3333 intronic ESRP1 Reference - - - - - - - - ESRP1 chr8 96047806 96047806 - A 3/11(0.79) 92 14 het splicing insertion chr8 - - 0.574667 0.3407 splicing NDUFAF6 Reference - - - - - - - - NDUFAF6(NM_152416,exon3,c.420+2->A) chr8 96053783 96053784 CT - 0/17(1.00) 896 17 hom unknown deletion chr8 rs79118993 0.95 0.731839 0.3750 intronic NDUFAF6 Reference - - - - - - - - NDUFAF6 chr8 97244217 97244217 - T 16/7(0.30) 139 23 het unknown insertion chr8 rs142060471 0.06 - 0.0809 intronic UQCRB Reference - - - - - - - - UQCRB chr8 98787930 98787930 - TGCTTGGAGCTCCAGCAGC 20/19(0.49) 1026 39 het unknown insertion chr8 rs146027280 - 0.170340 0.2206 5-UTR LAPTM4B Reference - - - - - - - - LAPTM4B chr8 98817559 98817559 - G 5/11(0.69) 557 16 het unknown insertion chr8 rs112813626 0.55 - 0.3382 intronic LAPTM4B Reference - - - - - - - - LAPTM4B chr8 98828215 98828215 - CTT 9/5(0.36) 232 14 het unknown insertion chr8 rs10667481 0.54 - 0.2990 intronic LAPTM4B Reference - - - - - - - - LAPTM4B chr8 99046376 99046376 - T 52/48(0.48) 1586 100 het unknown insertion chr8 rs35312215 - - 0.1912 intronic MATN2 Reference - - - - - - - - MATN2 chr8 99046383 99046383 - T 48/45(0.48) 1097 93 het unknown insertion chr8 - - - 0.1863 intronic MATN2 Reference - - - - - - - - MATN2 chr8 99121036 99121036 C - 16/11(0.41) 486 27 het unknown deletion chr8 rs34451943 0.55 - 0.2402 intronic HRSP12 Reference - - - - - - - - HRSP12 chr8 99121038 99121038 - G 18/12(0.40) 625 30 het unknown insertion chr8 rs34397714 0.55 - 0.2353 intronic HRSP12 Reference - - - - - - - - HRSP12 chr8 101225241 101225241 - CCGCGGCCT 0/9(1.00) 489 9 het unknown insertion chr8 rs11280812 - - 0.2034 intronic SPAG1 Reference - - - - - - - - SPAG1 chr8 102648952 102648952 - AC 1/2(0.67) 77 3 het unknown insertion chr8 - - - 0.1520 intronic GRHL2 Reference - - - - - - - - GRHL2 chr8 103573011 103573037 TGCAACCCCTGCAGCCCCTGCAACCCG - 0/89(1.00) 3070 89 hom nonframeshift deletion chr8 - - - 0.0343 exonic ODF1 Reference - - - - - - - - ODF1,NM_024410,exon2,c.652_678del,p.218_226del chr8 103664310 103664310 - A 7/4(0.36) 179 11 het unknown insertion chr8 - 0.41 0.095611 0.3211 intronic KLF10 Reference - - - - - - - - KLF10 chr8 104426905 104426905 A - 10/6(0.38) 191 16 het unknown deletion chr8 rs10709873 - - 0.2696 intronic SLC25A32 Reference - - - - - - - - SLC25A32 chr8 104426908 104426908 G - 9/6(0.40) 246 15 het unknown deletion chr8 - - - 0.2696 intronic SLC25A32 Reference - - - - - - - - SLC25A32 chr8 104452554 104452554 - TAT 4/3(0.43) 128 7 het unknown insertion chr8 rs36073721 - - 0.2672 intronic DCAF13 Reference - - - - - - - - DCAF13 chr8 105264085 105264085 - AA 16/3(0.16) 107 19 het unknown insertion chr8 - - - - 3-UTR RIMS2 Reference - - - - - - - - RIMS2 chr8 105601198 105601198 - CGCCGCCGC 0/6(1.00) 301 6 het unknown insertion chr8 - - - 0.0098 5-UTR LRP12 Reference - - - - - - - - LRP12 chr8 105601198 105601198 - CGCCGCCGCCGCCGCCGC 0/6(1.00) 301 6 het unknown insertion chr8 - - - - 5-UTR LRP12 Reference - - - - - - - - LRP12 chr8 106573525 106573525 A - 14/14(0.50) 439 28 het unknown deletion chr8 rs3832566 0.34 - 0.2672 intronic ZFPM2 Reference - - - - - - - - ZFPM2 chr8 108970264 108970264 - CA 1/59(0.98) 3070 60 hom unknown insertion chr8 rs35069883 0.69 0.472284 0.4681 intronic RSPO2 Reference - - - - - - - - RSPO2 chr8 109215442 109215463 GCACTGTATAGAGATGACAATA - 23/11(0.32) 470 34 het unknown deletion chr8 rs72205512 - - 0.1691 intronic EIF3E Reference - - - - - - - - EIF3E chr8 109468230 109468230 - AGAA 1/3(0.75) 137 4 het unknown insertion chr8 rs10646253 0.55 0.666607 0.2990 intronic EMC2 Reference - - - - - - - - EMC2 chr8 110293185 110293185 A - 2/4(0.67) 46 6 het unknown deletion chr8 rs3830706 - - 0.2843 intronic NUDCD1 Reference - - - - - - - - NUDCD1 chr8 110656747 110656747 C - 53/39(0.42) 1500 92 het unknown deletion chr8 rs59295888 0.48 - 0.3873 intronic SYBU Reference - - - - - - - - SYBU chr8 110657322 110657322 - T 23/22(0.49) 372 45 het unknown insertion chr8 - 0.09 - 0.0907 intronic SYBU Reference - - - - - - - - SYBU chr8 110664593 110664593 - CTT 6/6(0.50) 278 12 het unknown insertion chr8 rs199873391 0.48 - 0.2672 intronic SYBU Reference - - - - - - - - SYBU chr8 113254071 113254072 GC - 0/6(1.00) 211 6 het unknown deletion chr8 rs5894076 0.63 - 0.2623 intronic CSMD3 Reference - - - - - - - - CSMD3 chr8 113254072 113254072 - ACAC het unknown insertion chr8 - - - - intronic CSMD3 Reference - - - - - - - - CSMD3 chr8 113254086 113254087 CG - 7/7(0.50) 262 14 het unknown deletion chr8 - 0.82 - 0.2598 intronic CSMD3 Reference - - - - - - - - CSMD3 chr8 113420496 113420496 G - 0/41(1.00) 1789 41 hom unknown deletion chr8 rs35988509 - - 0.3995 intronic CSMD3 Reference - - - - - - - - CSMD3 chr8 116635872 116635872 - A 6/8(0.57) 422 14 het unknown insertion chr8 rs35329862 0.52 0.299613 0.3358 5-UTR TRPS1 Reference - - - - - - - - TRPS1 chr8 120220776 120220776 G - 0/12(1.00) 471 12 hom splicing deletion chr8 rs71302978 - 0.994046 0.3824 splicing MAL2 Reference - - - - - - - - NM_052886,exon2,c.65-1G>-) chr8 121455558 121455558 - A 14/9(0.39) 38 23 het unknown insertion chr8 rs5894521 - - 0.2181 intronic MRPL13 Reference - - - - - - - - MRPL13 chr8 124140414 124140414 T - 3/3(0.50) 90 6 het unknown deletion chr8 rs61061621 0.17 - 0.1422 intronic TBC1D31 Reference - - - - - - - - TBC1D31 chr8 124140805 124140805 - ATA 9/4(0.31) 172 13 het unknown insertion chr8 rs148339992 0.20 0.418468 0.1642 intronic TBC1D31 Reference - - - - - - - - TBC1D31 chr8 124440336 124440336 - AG 0/11(1.00) 346 11 het unknown insertion chr8 rs142990079 - - 0.1912 intronic WDYHV1 Reference - - - - - - - - WDYHV1 chr8 124440336 124440336 - AAG 0/11(1.00) 346 11 het unknown insertion chr8 - - - 0.1593 intronic WDYHV1 Reference - - - - - - - - WDYHV1 chr8 124448908 124448909 TT - 13/13(0.50) 139 26 het unknown deletion chr8 rs10590897 - - 0.3676 intronic WDYHV1 Reference - - - - - - - - WDYHV1 chr8 124749652 124749652 C - 0/105(1.00) 3070 105 hom unknown deletion chr8 rs11331268 - - 0.4363 upstream ANXA13 Reference - - - - - - - - ANXA13 chr8 125711671 125711671 G - 7/2(0.22) 43 9 het unknown deletion chr8 rs11358821 0.54 - 0.2941 intronic MTSS1 Reference - - - - - - - - MTSS1 chr8 126056215 126056215 - C 0/35(1.00) 2161 35 hom unknown insertion chr8 rs11370883 - - 0.4436 intronic KIAA0196 Reference - - - - - - - - KIAA0196 chr8 131128024 131128024 - A 30/27(0.47) 1314 57 het unknown insertion chr8 rs3217641 0.47 0.141693 0.3578 intronic ASAP1 Reference - - - - - - - - ASAP1 chr8 131193153 131193153 - A 19/11(0.37) 85 30 het unknown insertion chr8 rs71572332 - 0.597300 0.3480 intronic ASAP1 Reference - - - - - - - - ASAP1 chr8 131916375 131916375 G - 0/23(1.00) 985 23 hom unknown deletion chr8 rs76542596 0.62 - 0.3873 intronic ADCY8 Reference - - - - - - - - ADCY8 chr8 133040898 133040898 - AAGA 1/3(0.75) 137 4 het unknown insertion chr8 rs71306365 - - 0.1691 intronic OC90 Reference - - - - - - - - OC90 chr8 133046943 133046943 - AACC 44/25(0.36) 1325 69 het unknown insertion chr8 rs140152480 0.03 - 0.0270 intronic OC90 Reference - - - - - - - - OC90 chr8 133978702 133978703 TC - 2/17(0.89) 771 19 het unknown deletion chr8 rs141752476 - - 0.3284 intronic TG Reference - - - - - - - - TG chr8 134052198 134052198 - CACA 12/12(0.50) 596 24 het unknown insertion chr8 rs147401482 - - 0.1324 intronic SLA;TG Reference - - - - - - - - SLA;TG chr8 134225396 134225396 - C 0/72(1.00) 3070 72 hom unknown insertion chr8 rs80321466 - - 0.5245 intronic WISP1 Reference - - - - - - - - WISP1 chr8 139151428 139151428 - TG 6/7(0.54) 362 13 het unknown insertion chr8 rs35147483 0.56 - 0.2794 intronic FAM135B Reference - - - - - - - - FAM135B chr8 139160684 139160686 CCT - 8/5(0.38) 197 13 het unknown deletion chr8 rs151123455 0.22 - 0.1127 intronic FAM135B Reference - - - - - - - - FAM135B chr8 139190943 139190943 - A 11/14(0.56) 445 25 het unknown insertion chr8 rs150615266 0.20 0.275925 0.2672 intronic FAM135B Reference - - - - - - - - FAM135B chr8 139379771 139379771 G - 0/22(1.00) 982 22 hom unknown deletion chr8 rs147619960 0.19 - 0.1961 intronic FAM135B Reference - - - - - - - - FAM135B chr8 139380103 139380103 - ACAC 0/4(1.00) 166 4 het unknown insertion chr8 - - - 0.0980 intronic FAM135B Reference - - - - - - - - FAM135B chr8 139380103 139380103 - ACACAC 0/4(1.00) 166 4 het unknown insertion chr8 - - - 0.1029 intronic FAM135B Reference - - - - - - - - FAM135B chr8 139648716 139648723 AGAAGGAA - 4/3(0.43) 105 7 het unknown deletion chr8 - - - 0.0074 intronic COL22A1 Reference - - - - - - - - COL22A1 chr8 139688654 139688668 GAAAAAGAAAGAAAG GAAAGAAAGAAAG het unknown substitution chr8 - - - - intronic COL22A1 Reference - - - - - - - - COL22A1 chr8 139688657 139688668 AAAGAAAGAAAG - 8/6(0.43) 122 14 het unknown deletion chr8 - - - 0.0270 intronic COL22A1 Reference - - - - - - - - COL22A1 chr8 139691996 139691999 GTTA - 38/37(0.49) 1777 75 het unknown deletion chr8 rs140389566 0.17 - 0.1446 intronic COL22A1 Reference - - - - - - - - COL22A1 chr8 141445350 141445370 AGAAAACAAAAAACAAAAACC - 0/36(1.00) 1945 36 hom unknown deletion chr8 rs11267571 0.99 0.640069 0.3064 intronic TRAPPC9 Reference - - - - - - - - TRAPPC9 chr8 141549347 141549347 T - 0/31(1.00) 1401 31 hom unknown deletion chr8 rs35387146 0.67 - 0.4926 intronic AGO2 Reference - - - - - - - - AGO2 chr8 142161551 142161563 TTGGGAGGCCAAG - 3/7(0.70) 315 10 het unknown deletion chr8 rs149543188 0.45 - 0.2623 intronic DENND3 Reference - - - - - - - - DENND3 chr8 142228078 142228095 GAGCGGCCCCGCTCCGGT - 16/14(0.47) 643 30 het unknown deletion chr8 rs3842198 0.81 0.608013 0.4779 intronic SLC45A4 Reference - - - - - - - - SLC45A4 chr8 142445540 142445540 - GCCCGCGGCCCTGGCCC 1/52(0.98) 3070 53 hom unknown insertion chr8 rs143051012 - - 0.1887 intronic MROH5 Reference - - - - - - - - MROH5 chr8 142477469 142477471 CCC - 7/7(0.50) 205 14 het unknown deletion chr8 - - 0.079611 0.0784 intronic MROH5 Reference - - - - - - - - MROH5 chr8 142477473 142477479 TCCTGGC - 6/7(0.54) 244 13 het unknown deletion chr8 - - 0.094448 0.0809 intronic MROH5 Reference - - - - - - - - MROH5 chr8 142484366 142484366 - G 0/52(1.00) 3070 52 hom unknown insertion chr8 rs72543638 - 0.952695 0.4485 intronic MROH5 Reference - - - - - - - - MROH5 chr8 142517131 142517131 G - 1/35(0.97) 833 36 hom unknown deletion chr8 rs11355664 - - 0.2868 intronic MROH5 Reference - - - - - - - - MROH5 chr8 142867203 142867203 - GCC 2/5(0.71) 231 7 het unknown insertion chr8 rs141265643 0.13 - 0.0466 intergenic MROH5;MIR4472-1 Reference - - - - - - - - MIR4472-1(dist=390497);MROH5(dist=349873) chr8 143365914 143365914 T - 0/43(1.00) 1874 43 hom unknown deletion chr8 rs5895710 - - 0.5123 intronic TSNARE1 Reference - - - - - - - - TSNARE1 chr8 143560997 143561003 GCCAGCT - 0/50(1.00) 2696 50 hom unknown deletion chr8 rs66517676 0.68 - 0.4730 intronic BAI1 Reference - - - - - - - - BAI1 chr8 143746088 143746089 CA - 1/155(0.99) 3070 156 hom splicing deletion chr8 rs33951456 0.98 0.999915 0.4608 splicing JRK Reference - - - - - - - - JRK chr8 143857441 143857441 - GG 18/11(0.38) 530 29 het unknown insertion chr8 rs3214637 - 0.938779 0.4608 5-UTR LYNX1 Reference - - - - - - - - LYNX1 chr8 143994979 143994979 A - 21/49(0.70) 1719 70 het unknown deletion chr8 rs36018151 0.49 - 0.3309 intronic CYP11B2 Reference - - - - - - - - CYP11B2 chr8 144351029 144351029 - TGCTGCTGCTGCTGT 0/4(1.00) 178 4 het unknown insertion chr8 - - - - intronic GLI4 Reference - - - - - - - - GLI4 chr8 144351029 144351029 - TGCTGCTGCTGCTGCTGCTGCTGT 0/4(1.00) 178 4 het unknown insertion chr8 - - - 0.1495 intronic GLI4 Reference - - - - - - - - GLI4 chr8 144397798 144397798 - GA 0/55(1.00) 3070 55 hom unknown insertion chr8 rs77177449 0.79 - 0.4118 intronic TOP1MT Reference - - - - - - - - TOP1MT chr8 144399857 144399857 C - 0/17(1.00) 582 17 hom unknown deletion chr8 rs3215410 0.86 - 0.5319 intronic TOP1MT Reference - - - - - - - - TOP1MT chr8 144459224 144459233 GTGTGTGCGC - 0/6(1.00) 255 6 het unknown deletion chr8 rs66539754 - - 0.0466 intronic RHPN1 Reference - - - - - - - - RHPN1 chr8 144459233 144459233 - GT het unknown insertion chr8 rs142163832 - - 0.2794 intronic RHPN1 Reference - - - - - - - - RHPN1 chr8 144464119 144464119 - CT 5/3(0.38) 122 8 het frameshift insertion chr8 - - - - exonic RHPN1 Reference - - - - - - - - RHPN1,NM_052924,exon14,c.1778_1779insCT,p.S593fs chr8 144642151 144642151 - AGGGCAGGGC 12/10(0.45) 523 22 het unknown insertion chr8 - - - 0.1936 intronic GSDMD Reference - - - - - - - - GSDMD chr8 144689933 144689936 ACAT - 15/27(0.64) 1304 42 het unknown deletion chr8 rs34360518 0.44 - 0.3358 intronic PYCRL Reference - - - - - - - - PYCRL chr8 144689966 144689979 CATATACACACGTG - 46/16(0.26) 650 62 het unknown deletion chr8 - - - - intronic PYCRL Reference - - - - - - - - PYCRL chr8 145005688 145005688 - C 3/3(0.50) 78 6 het unknown insertion chr8 rs35671527 0.16 0.336358 0.1936 intronic PLEC Reference - - - - - - - - PLEC chr8 145106939 145106940 CC - 0/53(1.00) 1907 53 hom splicing deletion chr8 rs141499204 0.99 0.997909 0.3775 splicing OPLAH Reference - - - - - - - - OPLAH chr8 145151666 145151667 GG - 0/53(1.00) 2425 53 hom unknown deletion chr8 rs200379271 - - 0.2598 intronic CYC1 Reference - - - - - - - - CYC1 chr8 145151669 145151693 AGTGGGCATGTGGAATACTTCTCCA - 0/54(1.00) 2939 54 hom unknown deletion chr8 - - 0.679300 0.1765 intronic CYC1 Reference - - - - - - - - CYC1 chr8 145623382 145623382 - GGGCCCAACCACCTCCCCG 8/5(0.38) 234 13 het unknown insertion chr8 rs61412847 0.65 0.285228 0.2549 intronic CPSF1 Reference - - - - - - - - CPSF1 chr8 145623881 145623881 - CCCAGGT 77/58(0.43) 3070 135 het unknown insertion chr8 rs141269368 0.64 - 0.4142 intronic CPSF1 Reference - - - - - - - - CPSF1 chr8 145652408 145652408 - GT 18/13(0.42) 685 31 het unknown insertion chr8 rs139513541 0.42 0.372612 0.3701 intronic VPS28 Reference - - - - - - - - VPS28 chr8 145738768 145738768 G - 0/87(1.00) 3070 87 hom splicing deletion chr8 rs11342077 0.99 - 0.5858 splicing RECQL4 Reference - - - - - - - - NM_004260,exon16,c.2297-1C>-) chr8 145830895 145830895 T - 0/97(1.00) 3070 97 hom unknown deletion chr8 rs5895822 - - 0.4975 intronic ARHGAP39 Reference - - - - - - - - ARHGAP39 chr8 145999617 145999619 TTT - 12/30(0.71) 1173 42 het nonframeshift deletion chr8 rs3830702 0.40 0.063003 0.3946 exonic ZNF34 Reference - - - - - - - - ZNF34,NM_030580,exon6,c.715_717del,p.239_239del chr8 146115684 146115684 - C 25/22(0.47) 1204 47 het unknown insertion chr8 rs138965529 0.24 - 0.2059 intronic ZNF250 Reference - - - - - - - - ZNF250 chr9 325811 325811 - C 0/27(1.00) 1657 27 hom unknown insertion chr9 rs3831138 0.68 - 0.3456 intronic DOCK8 Reference - - - - - - - - DOCK8 chr9 406805 406805 - C 0/15(1.00) 902 15 hom unknown insertion chr9 rs35423045 0.65 - 0.3529 intronic DOCK8 Reference - - - - - - - - DOCK8 chr9 407157 407157 - A 1/21(0.95) 768 22 hom unknown insertion chr9 rs75592870 0.55 - 0.3505 intronic DOCK8 Reference - - - - - - - - DOCK8 chr9 432141 432142 TT - 3/33(0.92) 312 36 hom unknown deletion chr9 rs34439675 - - 0.4461 intronic DOCK8 Reference - - - - - - - - DOCK8 chr9 734665 734665 - A 8/9(0.53) 133 17 het unknown insertion chr9 rs142267604 0.16 - 0.1495 intronic KANK1 Reference - - - - - - - - KANK1 chr9 2039777 2039779 CAG - 16/14(0.47) 625 30 het nonframeshift deletion chr9 rs113070757 - - 0.2574 exonic SMARCA2 Reference - - - - - - - - SMARCA2,NM_003070,exon4,c.667_669del,p.223_223del;SMARCA2,NM_139045,exon4,c.667_669del,p.223_223del chr9 2097549 2097549 A - 3/7(0.70) 70 10 het unknown deletion chr9 rs60293281 - - 0.2574 intronic SMARCA2 Reference - - - - - - - - SMARCA2 chr9 3932134 3932157 CAGCTATGCAAACCATAGCCATAT - 2/3(0.60) 110 5 het unknown deletion chr9 - - - 0.0319 intronic GLIS3 Reference - - - - - - - - GLIS3 chr9 4629170 4629170 - AAAA 10/13(0.57) 710 23 het splicing insertion chr9 rs144071611 0.41 0.215778 0.2721 splicing SPATA6L Reference - - - - - - - - SPATA6L(NM_001039395,exon5,c.178-2->TTTT) chr9 4702099 4702102 TCTT - 1/3(0.75) 95 4 het unknown deletion chr9 - - - - intronic CDC37L1 Reference - - - - - - - - CDC37L1 chr9 4834299 4834299 - G 6/7(0.54) 362 13 het unknown insertion chr9 rs148106832 - - 0.0956 intronic RCL1 Reference - - - - - - - - RCL1 chr9 5732533 5732533 T - 2/50(0.96) 904 52 hom unknown deletion chr9 rs76581785 - - 0.3971 intronic KIAA1432 Reference - - - - - - - - KIAA1432 chr9 5813077 5813077 - T 17/27(0.61) 680 44 het unknown insertion chr9 rs75996934 0.76 0.295255 0.4412 intronic ERMP1 Reference - - - - - - - - ERMP1 chr9 8331574 8331574 - AACTTACCATTCCTGAACTGT 1/43(0.98) 2611 44 hom unknown insertion chr9 - - - 0.2672 intronic PTPRD Reference - - - - - - - - PTPRD chr9 8338848 8338849 AG - 13/9(0.41) 391 22 het unknown deletion chr9 rs75695447 - - 0.2598 intronic PTPRD Reference - - - - - - - - PTPRD chr9 8341019 8341019 A - 18/14(0.44) 637 32 het unknown deletion chr9 rs35000820 0.34 - 0.3088 intronic PTPRD Reference - - - - - - - - PTPRD chr9 8470931 8470931 G - 77/46(0.37) 1283 123 het unknown deletion chr9 rs3215748 0.30 - 0.2451 intronic PTPRD Reference - - - - - - - - PTPRD chr9 12775861 12775861 - GGCGGCGGC 0/71(1.00) 3070 71 hom nonframeshift insertion chr9 rs139315731 - - 0.4069 exonic LURAP1L Reference - - - - - - - - LURAP1L,NM_203403,exon1,c.147_148insGGCGGCGGC,p.G49delinsGGGG chr9 13175716 13175718 GAG - 6/10(0.62) 464 16 het unknown deletion chr9 rs3831219 0.53 0.517171 0.3260 intronic MPDZ Reference - - - - - - - - MPDZ chr9 15447361 15447361 - ACT 7/6(0.46) 299 13 het unknown insertion chr9 rs3830477 - - 0.3946 intronic SNAPC3 Reference - - - - - - - - SNAPC3 chr9 15458080 15458080 - T 20/20(0.50) 281 40 het unknown insertion chr9 - - - 0.3701 intronic SNAPC3 Reference - - - - - - - - SNAPC3 chr9 15468415 15468417 CTT - 17/27(0.61) 1318 44 het unknown deletion chr9 rs34331255 0.74 0.679830 0.3848 intronic PSIP1 Reference - - - - - - - - PSIP1 chr9 15469133 15469133 A - 7/5(0.42) 55 12 het unknown deletion chr9 rs145855578 - - 0.0711 intronic PSIP1 Reference - - - - - - - - PSIP1 chr9 15510019 15510019 - G 12/18(0.60) 1003 30 het unknown insertion chr9 - 0.12 - 0.1127 intronic PSIP1 Reference - - - - - - - - PSIP1 chr9 16431381 16431381 G - 40/17(0.30) 728 57 het unknown deletion chr9 rs200830101 0.02 - 0.0294 intronic BNC2 Reference - - - - - - - - BNC2 chr9 16582890 16582890 - AC 1/6(0.86) 280 7 het unknown insertion chr9 rs149223772 - - 0.0686 intronic BNC2 Reference - - - - - - - - BNC2 chr9 16582890 16582890 - ACAC 1/6(0.86) 280 7 het unknown insertion chr9 - - - 0.1299 intronic BNC2 Reference - - - - - - - - BNC2 chr9 16738339 16738339 A - 1/43(0.98) 910 44 hom unknown deletion chr9 rs35475650 - - 0.5098 intronic BNC2 Reference - - - - - - - - BNC2 chr9 16738556 16738556 - TTTT 0/14(1.00) 748 14 hom unknown insertion chr9 rs138477968 - - 0.4216 intronic BNC2 Reference - - - - - - - - BNC2 chr9 18474374 18474375 TG - 37/6(0.14) 163 43 het unknown deletion chr9 rs146877500 - - - intronic ADAMTSL1 Reference - - - - - - - - ADAMTSL1 chr9 18826262 18826262 T - 7/101(0.94) 1531 108 hom unknown deletion chr9 rs35525189 - - 0.4485 intronic ADAMTSL1 Reference - - - - - - - - ADAMTSL1 chr9 18907049 18907049 - T 0/97(1.00) 3070 97 hom unknown insertion chr9 rs141292221 0.57 - 0.4314 intronic ADAMTSL1 Reference - - - - - - - - ADAMTSL1 chr9 19573484 19573509 ACACACACACACACACACACACACAC - 6/7(0.54) 306 13 het unknown deletion chr9 rs149743267 - - 0.1250 intronic SLC24A2 Reference - - - - - - - - SLC24A2 chr9 19576817 19576818 GT - 0/12(1.00) 620 12 hom unknown deletion chr9 rs56172301 - - 0.4265 intronic SLC24A2 Reference - - - - - - - - SLC24A2 chr9 20448059 20448059 T - 23/14(0.38) 129 37 het unknown deletion chr9 rs111349071 - - 0.1348 intronic MLLT3 Reference - - - - - - - - MLLT3 chr9 20621901 20621901 - GTGT 11/16(0.59) 859 27 het unknown insertion chr9 - - - 0.1740 intronic MLLT3 Reference - - - - - - - - MLLT3 chr9 20740355 20740355 - T 4/5(0.56) 57 9 het unknown insertion chr9 - - - 0.3064 intronic FOCAD Reference - - - - - - - - FOCAD chr9 27061145 27061146 GT - 0/3(1.00) 105 3 het unknown deletion chr9 - - - - intronic IFT74 Reference - - - - - - - - IFT74 chr9 27061143 27061146 GTGT - 0/3(1.00) 105 3 het unknown deletion chr9 rs112464316 - - 0.2304 intronic IFT74 Reference - - - - - - - - IFT74 chr9 27217517 27217520 TGTT - 0/23(1.00) 1227 23 hom unknown deletion chr9 rs5897224 - - 0.3333 intronic TEK Reference - - - - - - - - TEK chr9 27217783 27217783 - T 8/9(0.53) 213 17 het unknown insertion chr9 rs111512563 - 0.525000 0.1642 intronic TEK Reference - - - - - - - - TEK chr9 27217791 27217791 - C 7/7(0.50) 204 14 het unknown insertion chr9 rs199961950 - - 0.3701 intronic TEK Reference - - - - - - - - TEK chr9 27296944 27296945 AC - 1/4(0.80) 166 5 het unknown deletion chr9 rs3832606 0.22 0.093111 0.2132 intronic EQTN Reference - - - - - - - - EQTN chr9 32488310 32488312 AAG - 1/8(0.89) 374 9 het unknown deletion chr9 rs149584155 0.04 - 0.0417 intronic DDX58 Reference - - - - - - - - DDX58 chr9 32552164 32552164 - CTC 0/19(1.00) 1154 19 hom unknown insertion chr9 rs35002468 - - 0.2181 ncRNA_intronic TOPORS-AS1 Reference - - - - - - - - TOPORS-AS1 chr9 33116239 33116239 T - 0/17(1.00) 347 17 hom unknown deletion chr9 rs34433922 0.84 - 0.3333 intronic B4GALT1 Reference - - - - - - - - B4GALT1 chr9 33166711 33166711 - G 23/14(0.38) 347 37 het unknown insertion chr9 rs111399879 0.06 - 0.1005 intronic B4GALT1 Reference - - - - - - - - B4GALT1 chr9 33617692 33617703 GGATGTAACACG - 6/7(0.54) 307 13 het unknown deletion chr9 rs147881110 0.50 - 0.3113 intergenic ANKRD18B;ANXA2P2 Reference - - - - - - - - ANXA2P2(dist=6520);ANKRD18B(dist=44691) chr9 33662182 33662193 CTGTAGCCCCAA - 21/20(0.49) 941 41 het unknown deletion chr9 rs113011049 - - 0.2304 intergenic ANXA2P2;PTENP1 Reference - - - - - - - - ANXA2P2(dist=36650);PTENP1(dist=11309) chr9 33795418 33795423 GCCGAG - 29/4(0.12) 85 33 het unknown deletion chr9 - - - 0.1912 intronic PRSS3 Reference - - - - - - - - PRSS3 chr9 34133975 34133975 T - 3/6(0.67) 212 9 het unknown deletion chr9 rs34492545 0.26 - 0.2966 intergenic DCAF12;UBAP1 Reference - - - - - - - - DCAF12(dist=7204);UBAP1(dist=45028) chr9 34370702 34370702 G - 0/22(1.00) 940 22 hom unknown deletion chr9 rs58832809 0.95 - 0.4804 3-UTR KIAA1161 Reference - - - - - - - - KIAA1161 chr9 34615896 34615896 - A 2/13(0.87) 99 15 hom unknown insertion chr9 rs144108229 - - 0.2279 intronic DCTN3 Reference - - - - - - - - DCTN3 chr9 34833081 34833081 C - 10/25(0.71) 1235 35 het unknown deletion chr9 rs111808332 - - 0.3284 ncRNA_exonic FAM205B Reference - - - - - - - - FAM205B chr9 35107341 35107342 GT - 5/4(0.44) 163 9 het unknown deletion chr9 - - - 0.0049 intronic FAM214B Reference - - - - - - - - FAM214B chr9 35556527 35556527 - CCTCTAAGTGCTGGCTGGGC 2/3(0.60) 131 5 het unknown insertion chr9 rs150786704 0.60 - 0.3015 intronic RUSC2 Reference - - - - - - - - RUSC2 chr9 35562329 35562332 ACAA - 9/6(0.40) 247 15 het unknown deletion chr9 rs5897609 0.28 0.431927 0.2843 intronic FAM166B Reference - - - - - - - - FAM166B chr9 35610524 35610536 CCCTGCTCTGAGT - 0/15(1.00) 785 15 hom unknown deletion chr9 rs71940749 0.56 - 0.3701 intronic CD72 Reference - - - - - - - - CD72 chr9 35683240 35683240 - G 41/25(0.38) 548 66 het splicing insertion chr9 - - 0.271332 0.2402 splicing TPM2 Reference - - - - - - - - TPM2(NM_003289,exon10,c.773-2->C) chr9 35684822 35684822 - G 20/12(0.38) 243 32 het unknown insertion chr9 - 0.61 0.559539 0.3848 intronic TPM2 Reference - - - - - - - - TPM2 chr9 35704899 35704899 A - 13/13(0.50) 310 26 het unknown deletion chr9 rs3215701 0.48 - 0.3578 intronic TLN1 Reference - - - - - - - - TLN1 chr9 35739115 35739115 - C 19/21(0.53) 1162 40 het unknown insertion chr9 rs3833700 0.83 0.692523 0.5490 intronic GBA2 Reference - - - - - - - - GBA2 chr9 35751788 35751788 C - 13/7(0.35) 285 20 het unknown deletion chr9 - - - - intronic RGP1 Reference - - - - - - - - RGP1 chr9 35807402 35807410 GCTGGGGCC - 25/18(0.42) 826 43 het unknown deletion chr9 rs112946422 0.31 0.159342 0.2868 intronic NPR2 Reference - - - - - - - - NPR2 chr9 35811486 35811497 CCAGGACCAGAG - 13/18(0.58) 859 31 het nonframeshift deletion chr9 rs141090907 0.36 0.280611 0.3456 exonic SPAG8 Reference - - - - - - - - SPAG8,NM_172312,exon2,c.546_557del,p.182_186del;SPAG8,NM_001039592,exon2,c.546_557del,p.182_186del chr9 36882265 36882266 AC - 10/4(0.29) 139 14 het unknown deletion chr9 - - - 0.0564 intronic PAX5 Reference - - - - - - - - PAX5 chr9 37304168 37304168 - T 17/16(0.48) 309 33 het unknown insertion chr9 rs11422051 0.39 - 0.3235 intronic ZCCHC7 Reference - - - - - - - - ZCCHC7 chr9 37305830 37305833 ATAT - 1/4(0.80) 142 5 het unknown deletion chr9 rs3837244 - - 0.1422 intronic ZCCHC7 Reference - - - - - - - - ZCCHC7 chr9 37436633 37436634 CT - 93/15(0.14) 461 108 het unknown deletion chr9 - - - 0.0074 intronic GRHPR Reference - - - - - - - - GRHPR chr9 37517955 37517955 T - 1/3(0.75) 114 4 het unknown deletion chr9 rs138239587 0.16 - 0.1299 intronic FBXO10 Reference - - - - - - - - FBXO10 chr9 37819176 37819176 A - 5/7(0.58) 64 12 het unknown deletion chr9 rs11330143 - - 0.0760 intronic DCAF10 Reference - - - - - - - - DCAF10 chr9 38414032 38414032 - CACA het unknown insertion chr9 - - - 0.0147 intronic IGFBPL1 Reference - - - - - - - - IGFBPL1 chr9 38414031 38414032 CA - 6/24(0.80) 1261 30 het unknown deletion chr9 rs10545424 - - 0.2279 intronic IGFBPL1 Reference - - - - - - - - IGFBPL1 chr9 71509238 71509238 - T 21/21(0.50) 582 42 het unknown insertion chr9 - 0.19 0.038954 0.2353 intronic PIP5K1B Reference - - - - - - - - PIP5K1B chr9 71629038 71629038 - GCGGCGGCG 0/14(1.00) 756 14 hom unknown insertion chr9 - - - 0.0392 5-UTR PRKACG Reference - - - - - - - - PRKACG chr9 71854738 71854741 AAAC - 2/3(0.60) 111 5 het unknown deletion chr9 rs150035938 0.62 - 0.3162 intronic TJP2 Reference - - - - - - - - TJP2 chr9 72472747 72472747 A - 0/13(1.00) 538 13 hom unknown deletion chr9 rs35585376 0.83 - 0.3652 intronic C9orf135 Reference - - - - - - - - C9orf135 chr9 73240335 73240335 - A 19/9(0.32) 100 28 het unknown insertion chr9 rs113701331 0.25 - 0.2083 intronic TRPM3 Reference - - - - - - - - TRPM3 chr9 73391409 73391409 - A 0/24(1.00) 913 24 hom unknown insertion chr9 rs34030044 0.83 - 0.3578 intronic TRPM3 Reference - - - - - - - - TRPM3 chr9 73458045 73458045 - A 25/20(0.44) 327 45 het splicing insertion chr9 rs3833697 - 0.669250 0.1936 splicing TRPM3 Reference - - - - - - - - NM_206946,exon6,c.218-2->T;NM_001007471,exon6,c.677-2->T;NM_001007470,exon6,c.218-2->T);NM_206948,exon6,c.218-2->T;NM_020952,exon6,c.218-2->T;NM_206944,exon6,c.218-2->T;NM_024971,exon6,c.218-2->T;NM_206947,exon6,c.218-2->T;TRPM3(NM_206945,exon6,c.218-2->T chr9 74349918 74349919 AA - 15/16(0.52) 39 31 het unknown deletion chr9 rs71353514 - - 0.3431 intronic TMEM2 Reference - - - - - - - - TMEM2 chr9 75357544 75357551 AAACAAAC - 7/7(0.50) 304 14 het unknown deletion chr9 rs146170244 - - 0.2623 intronic TMC1 Reference - - - - - - - - TMC1 chr9 75533554 75533554 G - 7/3(0.30) 87 10 het unknown deletion chr9 - - - - intronic ALDH1A1 Reference - - - - - - - - ALDH1A1 chr9 77386857 77386857 - AA 4/4(0.50) 175 8 het unknown insertion chr9 - 0.34 - 0.2206 intronic TRPM6 Reference - - - - - - - - TRPM6 chr9 77390629 77390637 TAATGAGGT - 1/3(0.75) 113 4 het unknown deletion chr9 rs140594490 0.05 - 0.0515 intronic TRPM6 Reference - - - - - - - - TRPM6 chr9 78790139 78790168 AATGGAATGGAATGAAATGGAATGGAATGG - 13/54(0.81) 2378 67 het unknown deletion chr9 - - - 0.0049 intronic PCSK5 Reference - - - - - - - - PCSK5 chr9 78911794 78911794 - A 9/4(0.31) 82 13 het unknown insertion chr9 rs35788992 - 0.270487 0.1887 intronic PCSK5 Reference - - - - - - - - PCSK5 chr9 78917015 78917015 - A 0/11(1.00) 264 11 hom unknown insertion chr9 rs11451259 - 0.656528 0.3039 intronic PCSK5 Reference - - - - - - - - PCSK5 chr9 79118632 79118632 C - 13/15(0.54) 546 28 het unknown deletion chr9 rs111772588 0.22 0.315284 0.2647 3-UTR GCNT1 Reference - - - - - - - - GCNT1 chr9 79318376 79318390 GTGACAGCCTGCAAC - 0/102(1.00) 3070 102 hom nonframeshift deletion chr9 rs11267615 0.95 0.712193 0.6005 exonic PRUNE2 Reference - - - - - - - - PRUNE2,NM_015225,exon9,c.8139_8153del,p.2713_2718del chr9 79820141 79820141 - T 0/21(1.00) 1279 21 hom unknown insertion chr9 - 0.66 - 0.3309 intronic VPS13A Reference - - - - - - - - VPS13A chr9 84202837 84202837 - TGTGTCATCCCGCC 41/16(0.28) 763 57 het unknown insertion chr9 - - - 0.2255 intronic TLE1 Reference - - - - - - - - TLE1 chr9 84248206 84248217 GTGTGTGTGTGT - 0/8(1.00) 128 8 het unknown deletion chr9 - - 0.299600 - intronic TLE1 Reference - - - - - - - - TLE1 chr9 84248204 84248217 GTGTGTGTGTGTGT - 0/8(1.00) 128 8 het unknown deletion chr9 - - 0.069816 - intronic TLE1 Reference - - - - - - - - TLE1 chr9 84267021 84267021 - ACACACAC 2/14(0.88) 771 16 het unknown insertion chr9 - - - 0.0882 intronic TLE1 Reference - - - - - - - - TLE1 chr9 84275254 84275254 - A 18/5(0.22) 177 23 het unknown insertion chr9 - - - - intronic TLE1 Reference - - - - - - - - TLE1 chr9 85597721 85597724 AGAG - 25/30(0.55) 1448 55 het unknown deletion chr9 rs67114887 - - 0.3701 intronic RASEF Reference - - - - - - - - RASEF chr9 85677255 85677255 G - 1/56(0.98) 1206 57 hom unknown deletion chr9 - - - 0.0858 intronic RASEF Reference - - - - - - - - RASEF chr9 85862793 85862793 T - 0/17(1.00) 896 17 hom unknown deletion chr9 rs11292389 0.58 0.088215 0.4534 3-UTR FRMD3 Reference - - - - - - - - FRMD3 chr9 85987880 85987880 A - 36/37(0.51) 384 73 het unknown deletion chr9 rs57558822 - - 0.2966 intronic FRMD3 Reference - - - - - - - - FRMD3 chr9 86237896 86237897 GA - 0/13(1.00) 675 13 hom unknown deletion chr9 rs72138468 0.77 - 0.3358 upstream IDNK Reference - - - - - - - - IDNK chr9 86485617 86485617 A - 23/6(0.21) 195 29 het unknown deletion chr9 - - - - intronic KIF27 Reference - - - - - - - - KIF27 chr9 86924784 86924784 T - 7/4(0.36) 44 11 het unknown deletion chr9 rs71869137 - - 0.2941 intronic SLC28A3 Reference - - - - - - - - SLC28A3 chr9 87360107 87360111 CACCT - 0/31(1.00) 1669 31 hom unknown deletion chr9 rs144586764 0.88 - 0.3775 intronic NTRK2 Reference - - - - - - - - NTRK2 chr9 88925535 88925536 TG - 0/20(1.00) 1062 20 hom unknown deletion chr9 rs5898926 0.99 - 0.3505 intronic ZCCHC6 Reference - - - - - - - - ZCCHC6 chr9 88937852 88937854 TTT - 28/10(0.26) 177 38 het nonframeshift deletion chr9 rs58050565 0.52 0.546326 0.4632 exonic ZCCHC6 Reference - - - - - - - - ZCCHC6,NM_001185059,exon13,c.2811_2813del,p.937_938del;ZCCHC6,NM_001185074,exon9,c.2442_2444del,p.814_815del;ZCCHC6,NM_024617,exon13,c.2811_2813del,p.937_938del chr9 90258413 90258414 TT - 40/49(0.55) 1881 89 het unknown deletion chr9 rs56855366 - - 0.4363 intronic DAPK1 Reference - - - - - - - - DAPK1 chr9 90473900 90473900 G - 1/38(0.97) 1172 39 hom unknown deletion chr9 rs34537969 - - 0.5196 ncRNA_exonic LOC392364 Reference - - - - - - - - LOC392364 chr9 93650759 93650759 A - 11/15(0.58) 143 26 het unknown deletion chr9 rs199586721 - 0.143487 0.1985 intronic SYK Reference - - - - - - - - SYK chr9 94118287 94118287 - A 17/35(0.67) 668 52 het unknown insertion chr9 - 0.27 - 0.2230 intronic AUH Reference - - - - - - - - AUH chr9 95237025 95237027 TCA - 1/37(0.97) 1937 38 hom nonframeshift deletion chr9 rs3078372 - - 0.3064 exonic ASPN Reference - - - - - - - - ASPN,NM_017680,exon2,c.153_155del,p.51_52del;ASPN,NM_001193335,exon2,c.153_155del,p.51_52del chr9 95402951 95402951 G - 60/62(0.51) 3017 122 het unknown deletion chr9 rs3216731 0.28 0.101358 0.2402 intronic IPPK Reference - - - - - - - - IPPK chr9 95482500 95482501 AG - 5/3(0.38) 102 8 het unknown deletion chr9 rs148644558 0.11 - 0.1348 intronic BICD2 Reference - - - - - - - - BICD2 chr9 95580746 95580746 T - 1/27(0.96) 402 28 hom unknown deletion chr9 rs71364316 - - 0.3873 ncRNA_intronic ANKRD19P Reference - - - - - - - - ANKRD19P chr9 95772739 95772742 GAGA - 4/5(0.56) 209 9 het unknown deletion chr9 rs36150183 0.19 - 0.2157 intronic FGD3 Reference - - - - - - - - FGD3 chr9 95794947 95794962 CCTCCCGCCCACTCCA - 14/12(0.46) 545 26 het unknown deletion chr9 rs150126405 - - 0.2549 intronic FGD3 Reference - - - - - - - - FGD3 chr9 96025717 96025717 - AG 0/28(1.00) 1720 28 hom unknown insertion chr9 rs10649709 - - 0.4216 intronic WNK2 Reference - - - - - - - - WNK2 chr9 96052142 96052143 AG - 10/9(0.47) 400 19 het unknown deletion chr9 rs202226181 0.03 - 0.0343 intronic WNK2 Reference - - - - - - - - WNK2 chr9 96320706 96320706 G - 1/4(0.80) 124 5 het unknown deletion chr9 rs34457187 0.48 - 0.2304 intronic FAM120A Reference - - - - - - - - FAM120A chr9 96426049 96426049 - CACA 7/8(0.53) 416 15 het unknown insertion chr9 rs112327078 - - 0.3456 intronic PHF2 Reference - - - - - - - - PHF2 chr9 96439004 96439004 - CCTGCCTCCACCACA 10/10(0.50) 523 20 het nonframeshift insertion chr9 rs149736720 - - 0.2451 exonic PHF2 Reference - - - - - - - - PHF2,NM_005392,exon21,c.2961_2962insCCTGCCTCCACCACA,p.T987delinsTPASTT chr9 97054889 97054889 - TTGTGTGTGTGTG 5/4(0.44) 211 9 het unknown insertion chr9 - - - 0.0368 intronic ZNF169 Reference - - - - - - - - ZNF169 chr9 97080923 97080925 GCT - 31/7(0.18) 234 38 het nonframeshift deletion chr9 - - - 0.1078 exonic NUTM2F Reference - - - - - - - - NUTM2F,NM_017561,exon7,c.2093_2095del,p.698_699del chr9 97080930 97080932 GGA - 32/7(0.18) 231 39 het nonframeshift deletion chr9 - - - 0.1054 exonic NUTM2F Reference - - - - - - - - NUTM2F,NM_017561,exon7,c.2086_2088del,p.696_696del chr9 97080945 97080947 AGA - 8/35(0.81) 1762 43 het nonframeshift deletion chr9 rs150455117 - 0.704973 0.6152 exonic NUTM2F Reference - - - - - - - - NUTM2F,NM_017561,exon7,c.2071_2073del,p.691_691del chr9 97329737 97329737 - AG 0/53(1.00) 3070 53 hom unknown insertion chr9 rs200662781 0.62 0.488658 0.4902 intronic FBP2 Reference - - - - - - - - FBP2 chr9 97367899 97367902 AAGA - 27/17(0.39) 767 44 het unknown deletion chr9 rs145502856 0.21 0.073722 0.2819 intronic FBP1 Reference - - - - - - - - FBP1 chr9 97426330 97426330 - A 8/7(0.47) 58 15 het unknown insertion chr9 - - - 0.2475 intergenic FBP1;C9orf3 Reference - - - - - - - - FBP1(dist=23799);C9orf3(dist=62621) chr9 97555229 97555229 A - 36/16(0.31) 43 52 het unknown deletion chr9 rs55826214 - - 0.0490 intronic C9orf3 Reference - - - - - - - - C9orf3 chr9 98997911 98997919 TCTTTGTGG - 34/24(0.41) 1089 58 het unknown deletion chr9 rs8190570 0.45 - 0.3603 intronic HSD17B3 Reference - - - - - - - - HSD17B3 chr9 99145855 99145855 - GCCGC 10/5(0.33) 228 15 het frameshift insertion chr9 - - - - exonic SLC35D2 Reference - - - - - - - - SLC35D2,NM_007001,exon1,c.61_62insGCGGC,p.L21fs chr9 100092968 100092968 - GAGGAG 30/19(0.39) 982 49 het nonframeshift insertion chr9 rs113264216 - - 0.4608 exonic CCDC180 Reference - - - - - - - - CCDC180,NM_020893,exon18,c.2325_2326insGAGGAG,p.E775delinsEEE chr9 100973178 100973178 - GAGGCCT 0/27(1.00) 1601 27 hom unknown insertion chr9 rs3832623 0.53 - 0.3603 intronic TBC1D2 Reference - - - - - - - - TBC1D2 chr9 101303849 101303849 - A 1/3(0.75) 137 4 het unknown insertion chr9 rs146269318 0.10 - 0.0662 intronic GABBR2 Reference - - - - - - - - GABBR2 chr9 101814731 101814731 T - 30/28(0.48) 1089 58 het unknown deletion chr9 rs3832635 0.09 - 0.1471 intronic COL15A1 Reference - - - - - - - - COL15A1 chr9 103027226 103027226 - T 35/17(0.33) 31 52 het unknown insertion chr9 - - - 0.0637 intronic INVS Reference - - - - - - - - INVS chr9 105763846 105763850 TTTTG - 5/4(0.44) 154 9 het unknown deletion chr9 rs141187826 0.04 0.057459 0.0539 intronic CYLC2 Reference - - - - - - - - CYLC2 chr9 105763970 105763970 - A 8/16(0.67) 792 24 het unknown insertion chr9 rs149905682 0.04 0.053701 0.0564 intronic CYLC2 Reference - - - - - - - - CYLC2 chr9 107360769 107360769 T - 21/16(0.43) 732 37 het frameshift deletion chr9 rs11314210 0.57 0.327396 0.4510 exonic OR13C5 Reference - - - - - - - - OR13C5,NM_001004482,exon1,c.926delA,p.H309fs chr9 107367393 107367396 GTTA - 108/92(0.46) 3070 200 het frameshift deletion chr9 rs143198170 - 0.256314 0.5049 exonic OR13C2 Reference - - - - - - - - OR13C2,NM_001004481,exon1,c.513_516del,p.171_172del chr9 107367665 107367666 GC - 68/43(0.39) 2002 111 het frameshift deletion chr9 rs143760725 0.58 0.316603 0.5392 exonic OR13C2 Reference - - - - - - - - OR13C2,NM_001004481,exon1,c.243_244del,p.81_82del chr9 107556793 107556793 - AA 3/15(0.83) 67 18 hom splicing insertion chr9 - - - 0.0637 splicing ABCA1 Reference - - - - - - - - ABCA1(NM_005502,exon41,c.5383-2->TT) chr9 107602813 107602813 - T 18/8(0.31) 385 26 het unknown insertion chr9 rs2067484 - 0.105671 0.3946 intronic ABCA1 Reference - - - - - - - - ABCA1 chr9 108536427 108536427 T - 3/5(0.62) 137 8 het unknown deletion chr9 rs11330639 0.42 - 0.2794 3-UTR TMEM38B Reference - - - - - - - - TMEM38B chr9 110093971 110093971 - A 9/30(0.77) 340 39 het unknown insertion chr9 - - - 0.0074 3-UTR RAD23B Reference - - - - - - - - RAD23B chr9 110093971 110093971 A - 9/30(0.77) 340 39 het unknown deletion chr9 rs5899731 - - 0.3505 3-UTR RAD23B Reference - - - - - - - - RAD23B chr9 111641912 111641915 AACT - 23/33(0.59) 1613 56 het unknown deletion chr9 rs140965249 0.29 - 0.2647 intronic IKBKAP Reference - - - - - - - - IKBKAP chr9 111656103 111656104 AG - 14/6(0.30) 232 20 het unknown deletion chr9 rs202187313 - - 0.0049 intronic IKBKAP Reference - - - - - - - - IKBKAP chr9 112170701 112170701 - AAAC 0/14(1.00) 807 14 hom unknown insertion chr9 rs35463120 - - 0.3235 intronic PTPN3 Reference - - - - - - - - PTPN3 chr9 113218098 113218098 - AAAGA 0/25(1.00) 1531 25 hom unknown insertion chr9 rs112071235 - - 0.3873 intronic SVEP1 Reference - - - - - - - - SVEP1 chr9 114994286 114994286 G - 3/2(0.40) 55 5 het unknown deletion chr9 - - - 0.1054 ncRNA_intronic MIR3134 Reference - - - - - - - - MIR3134 chr9 115060100 115060100 - C 7/6(0.46) 299 13 het unknown insertion chr9 rs34861385 - - 0.2623 ncRNA_intronic MIR3134 Reference - - - - - - - - MIR3134 chr9 115216223 115216226 ATTA - 0/37(1.00) 2000 37 hom unknown deletion chr9 rs10538330 0.83 - 0.4338 intronic HSDL2 Reference - - - - - - - - HSDL2 chr9 115567015 115567015 - TG 0/16(1.00) 965 16 hom unknown insertion chr9 rs139599865 - 0.934725 0.4534 intronic SNX30 Reference - - - - - - - - SNX30 chr9 115934022 115934022 - ACCTGGATT 0/14(1.00) 768 14 hom unknown insertion chr9 rs5900041 - 0.804156 0.4436 intronic FKBP15 Reference - - - - - - - - FKBP15 chr9 115969433 115969433 - AGA 12/18(0.60) 1004 30 het unknown insertion chr9 rs5900043 0.40 0.707563 0.3652 intronic FKBP15 Reference - - - - - - - - FKBP15 chr9 116764883 116764883 - CT 4/106(0.96) 3070 110 hom unknown insertion chr9 rs148571799 - - 0.4240 intronic ZNF618 Reference - - - - - - - - ZNF618 chr9 117554505 117554510 ACACAC - 4/5(0.56) 209 9 het unknown deletion chr9 - - - 0.0123 intronic TNFSF15 Reference - - - - - - - - TNFSF15 chr9 117803185 117803185 - AC 8/3(0.27) 85 11 het unknown insertion chr9 - - - - intronic TNC Reference - - - - - - - - TNC chr9 117803185 117803185 - ACAC 8/3(0.27) 85 11 het unknown insertion chr9 rs35141770 - - 0.3260 intronic TNC Reference - - - - - - - - TNC chr9 117819749 117819752 TTAA - 12/9(0.43) 383 21 het unknown deletion chr9 rs139652669 0.15 0.093987 0.2010 intronic TNC Reference - - - - - - - - TNC chr9 123476543 123476548 CGGCGG - 0/42(1.00) 2277 42 hom nonframeshift deletion chr9 - - 0.721429 0.2647 exonic MEGF9 Reference - - - - - - - - MEGF9,NM_001080497,exon1,c.89_94del,p.30_32del chr9 123812330 123812332 GAT - 6/4(0.40) 151 10 het unknown deletion chr9 rs138442643 - - 0.0098 intronic C5 Reference - - - - - - - - C5 chr9 123924668 123924669 AT - 0/16(1.00) 841 16 hom unknown deletion chr9 rs113967611 0.78 - 0.3701 intronic CNTRL Reference - - - - - - - - CNTRL chr9 123945505 123945505 - A 2/35(0.95) 892 37 hom unknown insertion chr9 rs35634666 - - 0.3284 intronic RAB14 Reference - - - - - - - - RAB14 chr9 125315376 125315376 - T 0/25(1.00) 1094 25 hom unknown insertion chr9 - 0.96 - 0.4069 upstream OR1N2 Reference - - - - - - - - OR1N2 chr9 125612130 125612131 AA - 6/7(0.54) 234 13 het unknown deletion chr9 rs3049156 0.60 0.040486 0.4069 intronic RC3H2 Reference - - - - - - - - RC3H2 chr9 125759862 125759865 TTTC - 6/5(0.45) 203 11 het unknown deletion chr9 rs138316961 0.28 - 0.2181 intronic RABGAP1 Reference - - - - - - - - RABGAP1 chr9 125922854 125922854 - A 0/17(1.00) 562 17 hom unknown insertion chr9 - - - 0.3456 intronic STRBP Reference - - - - - - - - STRBP chr9 126118518 126118524 GCAGAGC - 0/17(1.00) 896 17 hom unknown deletion chr9 rs72433015 0.48 0.561245 0.3407 5-UTR CRB2 Reference - - - - - - - - CRB2 chr9 126794642 126794642 - G 9/10(0.53) 305 19 het unknown insertion chr9 rs143803976 - - 0.3873 intronic LHX2 Reference - - - - - - - - LHX2 chr9 127287158 127287158 - A 32/20(0.38) 200 52 het unknown insertion chr9 - - - 0.0809 intronic NR6A1 Reference - - - - - - - - NR6A1 chr9 127619625 127619625 - C 0/31(1.00) 1204 31 hom unknown insertion chr9 rs80164849 - 0.945881 0.5000 intronic WDR38 Reference - - - - - - - - WDR38 chr9 127643989 127643989 - G 27/5(0.16) 146 32 het unknown insertion chr9 rs3214725 0.10 - 0.1299 intronic GOLGA1 Reference - - - - - - - - GOLGA1 chr9 127982776 127982776 T - 57/46(0.45) 2191 103 het unknown deletion chr9 rs35811664 0.46 0.509984 0.4118 intronic RABEPK Reference - - - - - - - - RABEPK chr9 128691914 128691914 - T 0/22(1.00) 572 22 hom unknown insertion chr9 rs143484836 0.16 - 0.2083 intronic PBX3 Reference - - - - - - - - PBX3 chr9 130127691 130127691 - T 4/31(0.89) 568 35 hom unknown insertion chr9 rs34477788 - - 0.2500 intronic GARNL3 Reference - - - - - - - - GARNL3 chr9 130241374 130241374 - CA 0/22(1.00) 1342 22 hom unknown insertion chr9 rs71495644 - - 0.3873 intronic LRSAM1 Reference - - - - - - - - LRSAM1 chr9 130657021 130657021 C - 0/34(1.00) 1317 34 hom unknown deletion chr9 rs5900777 - 0.997524 0.5221 intronic ST6GALNAC6 Reference - - - - - - - - ST6GALNAC6 chr9 130854462 130854463 CA - 4/6(0.60) 261 10 het unknown deletion chr9 rs34182859 0.17 - 0.1422 intronic SLC25A25 Reference - - - - - - - - SLC25A25 chr9 130890448 130890448 - GGGTGCGCGG 25/27(0.52) 1506 52 het unknown insertion chr9 - - - 0.0245 5-UTR PTGES2 Reference - - - - - - - - PTGES2 chr9 130890449 130890449 - GGTGCGCGGC 28/25(0.47) 1382 53 het unknown insertion chr9 rs11283643 - - 0.3529 5-UTR PTGES2 Reference - - - - - - - - PTGES2 chr9 130932397 130932398 AC - 0/99(1.00) 3070 99 hom unknown deletion chr9 rs144699223 0.49 0.490895 0.4265 intronic CIZ1 Reference - - - - - - - - CIZ1 chr9 131196906 131196907 GG - 15/5(0.25) 101 20 het unknown deletion chr9 rs141741719 0.36 0.331016 0.3627 intronic CERCAM Reference - - - - - - - - CERCAM chr9 131250085 131250085 C - 1/40(0.98) 2034 41 hom unknown deletion chr9 - - - 0.3627 intronic ODF2 Reference - - - - - - - - ODF2 chr9 131250086 131250089 ACAC AAC het unknown substitution chr9 - - - - intronic ODF2 Reference - - - - - - - - ODF2 chr9 131250087 131250089 CAC - 0/9(1.00) 340 9 het unknown deletion chr9 - - - 0.1544 intronic ODF2 Reference - - - - - - - - ODF2 chr9 131277770 131277776 TTATTTT - 5/13(0.72) 622 18 het unknown deletion chr9 rs144998544 0.43 0.262715 0.3260 intronic GLE1 Reference - - - - - - - - GLE1 chr9 131295731 131295732 AG - 4/5(0.56) 225 9 het unknown deletion chr9 - - - - intronic GLE1 Reference - - - - - - - - GLE1 chr9 131389060 131389060 - AA 0/13(1.00) 776 13 hom unknown insertion chr9 - - - 0.4387 intronic SPTAN1 Reference - - - - - - - - SPTAN1 chr9 131454456 131454457 AG - 14/7(0.33) 284 21 het unknown deletion chr9 - - - - intronic SET Reference - - - - - - - - SET chr9 131456382 131456382 - GT 9/16(0.64) 569 25 het unknown insertion chr9 - - - 0.0662 intronic SET Reference - - - - - - - - SET chr9 131456385 131456385 - TA 7/7(0.50) 218 14 het unknown insertion chr9 rs143543346 - - 0.3088 intronic SET Reference - - - - - - - - SET chr9 131484253 131484256 CCAA - 28/26(0.48) 1234 54 het unknown deletion chr9 rs145031257 0.06 0.031070 0.0931 intronic ZDHHC12 Reference - - - - - - - - ZDHHC12 chr9 131586577 131586580 GTGC - 6/8(0.57) 297 14 het unknown deletion chr9 rs143645110 - - 0.0637 intronic C9orf114 Reference - - - - - - - - C9orf114 chr9 131587027 131587027 - G 35/62(0.64) 3070 97 het unknown insertion chr9 rs113705053 0.11 0.058946 0.1618 intronic C9orf114 Reference - - - - - - - - C9orf114 chr9 131825928 131825928 G - 1/32(0.97) 973 33 hom unknown deletion chr9 rs148308873 - - 0.0833 intronic FAM73B Reference - - - - - - - - FAM73B chr9 131882706 131882706 G - 6/6(0.50) 240 12 het unknown deletion chr9 rs200158794 0.99 - 0.0490 intronic PPP2R4 Reference - - - - - - - - PPP2R4 chr9 132630665 132630667 GAC - 0/55(1.00) 2986 55 hom nonframeshift deletion chr9 rs10602985 - 0.809304 0.6348 exonic USP20 Reference - - - - - - - - USP20,NM_001110303,exon11,c.1072_1074del,p.358_358del;USP20,NM_006676,exon11,c.1072_1074del,p.358_358del;USP20,NM_001008563,exon11,c.1072_1074del,p.358_358del chr9 132632162 132632162 - C 0/14(1.00) 794 14 hom unknown insertion chr9 rs35124212 0.99 0.839471 0.4877 intronic USP20 Reference - - - - - - - - USP20 chr9 132671359 132671359 - G 0/14(1.00) 520 14 hom unknown insertion chr9 rs35180619 0.89 0.754048 0.3725 intronic FNBP1 Reference - - - - - - - - FNBP1 chr9 132720720 132720720 - A 0/32(1.00) 839 32 hom unknown insertion chr9 - - - 0.3922 intronic FNBP1 Reference - - - - - - - - FNBP1 chr9 132816398 132816398 - C 0/29(1.00) 1445 29 hom unknown insertion chr9 - - 0.994380 0.4706 intronic GPR107 Reference - - - - - - - - GPR107 chr9 132848653 132848653 - T 0/29(1.00) 1691 29 hom unknown insertion chr9 rs11399718 - 0.995288 0.3848 intronic GPR107 Reference - - - - - - - - GPR107 chr9 133028205 133028210 GGCAGT - 0/17(1.00) 896 17 hom unknown deletion chr9 rs145578240 - - 0.3431 intergenic NCS1;ASS1 Reference - - - - - - - - NCS1(dist=28622);ASS1(dist=291884) chr9 133556433 133556433 C - 1/3(0.75) 82 4 het unknown deletion chr9 rs11340648 0.53 - 0.1373 intronic PRDM12 Reference - - - - - - - - PRDM12 chr9 133710819 133710819 - C 0/19(1.00) 1154 19 hom unknown insertion chr9 rs11433463 - 0.999415 0.3775 intronic ABL1 Reference - - - - - - - - ABL1 chr9 133967310 133967310 - CA 15/7(0.32) 334 22 het unknown insertion chr9 rs10696088 - - 0.3554 3-UTR LAMC3 Reference - - - - - - - - LAMC3 chr9 133987249 133987254 CTGCGG - 2/3(0.60) 110 5 het unknown deletion chr9 rs11276693 0.69 - 0.2990 intronic AIF1L Reference - - - - - - - - AIF1L chr9 133996460 133996460 - G 11/13(0.54) 487 24 het unknown insertion chr9 rs111758824 0.50 - 0.3480 3-UTR AIF1L Reference - - - - - - - - AIF1L chr9 134348819 134348819 G - 0/24(1.00) 1029 24 hom unknown deletion chr9 rs5900941 0.94 - 0.4363 intronic PRRC2B Reference - - - - - - - - PRRC2B chr9 134467579 134467579 A - 0/66(1.00) 2382 66 hom unknown deletion chr9 rs3215862 0.78 0.803550 0.4926 intronic RAPGEF1 Reference - - - - - - - - RAPGEF1 chr9 134477388 134477388 G - 0/30(1.00) 1354 30 hom unknown deletion chr9 rs3842210 0.62 - 0.3897 intronic RAPGEF1 Reference - - - - - - - - RAPGEF1 chr9 134480272 134480272 - GT 4/4(0.50) 188 8 het unknown insertion chr9 - - - 0.0784 intronic RAPGEF1 Reference - - - - - - - - RAPGEF1 chr9 135163562 135163562 - A 0/22(1.00) 652 22 hom unknown insertion chr9 rs35545441 0.26 - 0.2328 intronic SETX Reference - - - - - - - - SETX chr9 135173454 135173454 - A 0/44(1.00) 2728 44 hom unknown insertion chr9 - 0.66 0.226038 0.4485 intronic SETX Reference - - - - - - - - SETX chr9 135273759 135273759 - A 0/31(1.00) 1909 31 hom unknown insertion chr9 rs5900976 0.98 0.890877 0.4657 intronic TTF1 Reference - - - - - - - - TTF1 chr9 136036928 136036928 A - 10/11(0.52) 220 21 het unknown deletion chr9 rs35602119 - 0.063149 0.3701 intronic GBGT1 Reference - - - - - - - - GBGT1 chr9 136133381 136133383 GGG - 0/31(1.00) 1284 31 hom unknown deletion chr9 rs140263836 0.72 - 0.4020 intronic ABO Reference - - - - - - - - ABO chr9 136133583 136133583 G - 0/11(1.00) 399 11 hom unknown deletion chr9 rs55817681 0.71 0.713024 0.4706 intronic ABO Reference - - - - - - - - ABO chr9 136135138 136135150 CTTCTGTCCACAC - 0/25(1.00) 1338 25 hom unknown deletion chr9 rs6151203 0.71 - 0.4216 intronic ABO Reference - - - - - - - - ABO chr9 136249462 136249462 - A 2/4(0.67) 194 6 het unknown insertion chr9 - - - 0.0196 intronic C9orf96 Reference - - - - - - - - C9orf96 chr9 136249470 136249470 - ACA 2/4(0.67) 194 6 het unknown insertion chr9 - - - 0.0196 intronic C9orf96 Reference - - - - - - - - C9orf96 chr9 136249481 136249483 TCA - 2/7(0.78) 319 9 het unknown deletion chr9 - - - 0.0833 intronic C9orf96 Reference - - - - - - - - C9orf96 chr9 136249514 136249514 - GTT 1/6(0.86) 248 7 het unknown insertion chr9 - - - 0.0735 intronic C9orf96 Reference - - - - - - - - C9orf96 chr9 136648611 136648611 - G 0/33(1.00) 1284 33 hom unknown insertion chr9 - 0.98 0.709585 0.4926 intronic VAV2 Reference - - - - - - - - VAV2 chr9 137688781 137688800 CCTGTCCCCTCCAAAACCCA - 0/84(1.00) 3070 84 hom unknown deletion chr9 rs142676375 - 0.648982 0.3725 intronic COL5A1 Reference - - - - - - - - COL5A1 chr9 137806329 137806329 - C 59/34(0.37) 1712 93 het unknown insertion chr9 rs35213703 0.48 0.647125 0.3971 intronic FCN1 Reference - - - - - - - - FCN1 chr9 137968919 137968919 - AA 0/65(1.00) 3070 65 hom unknown insertion chr9 - - - 0.5515 intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137982220 137982220 - TGTG 14/21(0.60) 824 35 het unknown insertion chr9 rs10628208 - - 0.1078 intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137982234 137982234 - TT 15/13(0.46) 674 28 het unknown insertion chr9 - 0.54 - 0.3750 intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137987947 137987952 TTCTCT - 16/3(0.16) 71 19 het unknown deletion chr9 - - - 0.0221 intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137987965 137987965 - C 7/11(0.61) 572 18 het unknown insertion chr9 - - - 0.1225 intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137987977 137987981 CTTGC - 7/4(0.36) 130 11 het unknown deletion chr9 - - - - intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137987986 137987986 C - 9/4(0.31) 107 13 het unknown deletion chr9 - - - - intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137987991 137987992 CT - 10/3(0.23) 87 13 het unknown deletion chr9 - - - - intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137988052 137988056 TTCAT - 15/3(0.17) 71 18 het unknown deletion chr9 - - - - intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 137988064 137988064 T - 14/3(0.18) 47 17 het unknown deletion chr9 - - - - intronic OLFM1 Reference - - - - - - - - OLFM1 chr9 138457476 138457476 T - 29/21(0.42) 969 50 het unknown deletion chr9 rs3831489 0.52 - 0.3946 intronic PAEP Reference - - - - - - - - PAEP chr9 138634455 138634460 CCCCAG - 0/27(1.00) 1448 27 hom unknown deletion chr9 rs60345996 - - 0.3456 intronic KCNT1 Reference - - - - - - - - KCNT1 chr9 138678017 138678021 GCCCT - 20/16(0.44) 744 36 het unknown deletion chr9 rs36221684 0.25 0.300412 0.2230 intronic KCNT1 Reference - - - - - - - - KCNT1 chr9 139333050 139333053 CCCT - 0/24(1.00) 1273 24 hom unknown deletion chr9 rs5901103 - 0.926983 0.5368 intronic INPP5E Reference - - - - - - - - INPP5E chr9 139340183 139340185 AAG - 35/48(0.58) 2360 83 het unknown deletion chr9 - - - 0.0025 intronic SEC16A Reference - - - - - - - - SEC16A chr9 139639533 139639571 GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT - 0/43(1.00) 2336 43 hom unknown deletion chr9 - - - 0.1789 intronic LCN6 Reference - - - - - - - - LCN6 chr9 139650244 139650244 - TGCAGGGAACCC 182/46(0.20) 2033 228 het unknown insertion chr9 - - - 0.1765 intronic LCN8 Reference - - - - - - - - LCN8 chr9 139760831 139760831 G - 0/18(1.00) 619 18 hom unknown deletion chr9 rs76229681 0.88 - 0.3431 upstream EDF1 Reference - - - - - - - - EDF1 chr9 139875318 139875318 - CATTCATT 0/15(1.00) 896 15 hom unknown insertion chr9 - - - 0.0147 intronic PTGDS Reference - - - - - - - - PTGDS chr9 139887298 139887298 - T 9/12(0.57) 653 21 het unknown insertion chr9 - 0.05 - 0.0564 intronic C9orf142 Reference - - - - - - - - C9orf142 chr9 139903352 139903352 - C 0/12(1.00) 384 12 hom unknown insertion chr9 - 0.81 - 0.3088 intronic ABCA2 Reference - - - - - - - - ABCA2 chr9 139916471 139916471 - TGGCTCAGATGGGGGTG 0/20(1.00) 1183 20 hom unknown insertion chr9 rs142576618 0.98 0.927207 0.3309 intronic ABCA2 Reference - - - - - - - - ABCA2 chr9 139996739 139996739 - CG 93/72(0.44) 3070 165 het unknown insertion chr9 rs148862659 - - 0.3015 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139996768 139996768 - AC 118/64(0.35) 3070 182 het unknown insertion chr9 - - - 0.2843 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139996893 139996894 TG - 81/52(0.39) 2430 133 het unknown deletion chr9 - - - 0.0466 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139997168 139997173 ATTCAT - 213/16(0.07) 155 229 het unknown deletion chr9 rs72173042 - - 0.1299 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139997213 139997213 - TG 203/41(0.17) 1778 244 het unknown insertion chr9 rs66976915 - - 0.2426 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139997563 139997563 - CATT 153/21(0.12) 749 174 het unknown insertion chr9 - - - 0.2255 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139997646 139997647 TG - 112/58(0.34) 2654 170 het unknown deletion chr9 - - - 0.0147 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 139997909 139997909 - ATT 135/17(0.11) 558 152 het unknown insertion chr9 rs113861954 - - 0.1299 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 140001341 140001341 - AAC 14/15(0.52) 817 29 het unknown insertion chr9 rs35175604 0.71 - 0.4706 intronic MAN1B1 Reference - - - - - - - - MAN1B1 chr9 140005117 140005117 - C 2/7(0.78) 215 9 het frameshift insertion chr9 rs199903489 - 0.033179 0.0147 exonic DPP7 Reference - - - - - - - - DPP7,NM_013379,exon13,c.1461dupG,p.P488fs chr9 140108916 140108917 TG - 0/53(1.00) 2884 53 hom unknown deletion chr9 rs149701237 - 0.658786 0.4975 intronic NDOR1 Reference - - - - - - - - NDOR1 chr9 140138272 140138272 - TT 17/7(0.29) 306 24 het unknown insertion chr9 - - - 0.0025 intronic FAM166A Reference - - - - - - - - FAM166A chr9 140147094 140147094 - CT 0/16(1.00) 965 16 hom unknown insertion chr9 rs71387813 0.50 0.680728 0.3407 ncRNA_intronic LOC100129722 Reference - - - - - - - - LOC100129722 chr9 140161635 140161639 GGGCT - 0/27(1.00) 1371 27 hom unknown deletion chr9 - - - 0.2868 intronic NELFB Reference - - - - - - - - NELFB chr9 140161642 140161647 GGTGGG - 0/28(1.00) 1426 28 hom unknown deletion chr9 - - - 0.2696 intronic NELFB Reference - - - - - - - - NELFB chr9 140218010 140218010 C - 2/6(0.75) 204 8 het unknown deletion chr9 rs149903662 - - 0.2868 intronic EXD3 Reference - - - - - - - - EXD3 chr9 140268130 140268132 TTT - 16/19(0.54) 553 35 het unknown deletion chr9 rs75742577 - - 0.2647 intronic EXD3 Reference - - - - - - - - EXD3 chr9 140320927 140320927 - GGGTC 4/4(0.50) 188 8 het unknown insertion chr9 rs145312088 0.56 - 0.3284 intronic NOXA1 Reference - - - - - - - - NOXA1 chr9 140708717 140708718 TC - 24/29(0.55) 1402 53 het unknown deletion chr9 - - - - intronic EHMT1 Reference - - - - - - - - EHMT1 chr9 140777551 140777551 - GGAA 2/3(0.60) 134 5 het unknown insertion chr9 rs113740609 - - 0.2892 intronic CACNA1B Reference - - - - - - - - CACNA1B chr9 140997350 140997350 G - 7/7(0.50) 231 14 het unknown deletion chr9 rs35796437 0.54 - 0.3554 intronic CACNA1B Reference - - - - - - - - CACNA1B chr10 285479 285479 - TGT 37/20(0.35) 977 57 het unknown insertion chr10 - - - 0.0490 intronic ZMYND11 Reference - - - - - - - - ZMYND11 chr10 329183 329183 G - 9/7(0.44) 91 16 het unknown deletion chr10 rs66861796 - 0.981709 0.4902 intronic DIP2C Reference - - - - - - - - DIP2C chr10 329192 329192 C - 8/11(0.58) 371 19 het unknown deletion chr10 - - - 0.1225 intronic DIP2C Reference - - - - - - - - DIP2C chr10 375571 375586 GGAGCTCAGCAAGGCT - 28/30(0.52) 1440 58 het unknown deletion chr10 rs3832678 - 0.413663 0.3039 intronic DIP2C Reference - - - - - - - - DIP2C chr10 1042023 1042023 - AAC 0/43(1.00) 2526 43 hom unknown insertion chr10 rs10665098 - 0.990173 0.3971 intronic GTPBP4 Reference - - - - - - - - GTPBP4 chr10 3167528 3167530 TTC - 16/25(0.61) 1179 41 het unknown deletion chr10 rs142773253 0.32 - 0.2696 intronic PFKP Reference - - - - - - - - PFKP chr10 3214996 3214996 C - 0/73(1.00) 2854 73 hom unknown deletion chr10 rs34460808 - - 0.3505 5-UTR PITRM1 Reference - - - - - - - - PITRM1 chr10 4877814 4877814 - TTTTG 18/22(0.55) 1225 40 het unknown insertion chr10 rs150127444 - - 0.3775 intronic AKR1E2 Reference - - - - - - - - AKR1E2 chr10 5014545 5014545 - A 58/40(0.41) 925 98 het unknown insertion chr10 - 0.53 - 0.4216 intronic AKR1C1 Reference - - - - - - - - AKR1C1 chr10 5200739 5200739 - AGG 0/22(1.00) 1342 22 hom unknown insertion chr10 rs5782810 - - 0.3873 ncRNA_intronic AKR1CL1 Reference - - - - - - - - AKR1CL1 chr10 5499040 5499040 - T 9/6(0.40) 293 15 het unknown insertion chr10 rs150408796 0.07 - 0.0760 3-UTR NET1 Reference - - - - - - - - NET1 chr10 5558145 5558145 - C 0/100(1.00) 3070 100 hom unknown insertion chr10 rs5782832 0.67 - 0.5392 intergenic CALML5;CALML3 Reference - - - - - - - - CALML3(dist=8779);CALML5(dist=16612) chr10 5684534 5684534 - A 9/11(0.55) 207 20 het unknown insertion chr10 rs111505554 - - 0.3407 intronic ASB13 Reference - - - - - - - - ASB13 chr10 5804633 5804633 - TC 8/9(0.53) 476 17 het unknown insertion chr10 rs79988786 0.18 0.193938 0.2010 intronic FAM208B Reference - - - - - - - - FAM208B chr10 5827330 5827332 TCT - 10/8(0.44) 348 18 het unknown deletion chr10 rs147494782 0.16 - 0.2083 intronic GDI2 Reference - - - - - - - - GDI2 chr10 6258492 6258492 - G 9/9(0.50) 414 18 het unknown insertion chr10 - 0.15 - 0.1544 intronic PFKFB3 Reference - - - - - - - - PFKFB3 chr10 6258841 6258841 C - 0/21(1.00) 895 21 hom unknown deletion chr10 rs5782881 - - 0.4510 intronic PFKFB3 Reference - - - - - - - - PFKFB3 chr10 6262905 6262905 - TGC 10/12(0.55) 647 22 het unknown insertion chr10 rs3084010 - - 0.2892 intronic PFKFB3 Reference - - - - - - - - PFKFB3 chr10 6263003 6263006 TGTA - 2/4(0.67) 163 6 het unknown deletion chr10 rs3083330 0.43 - 0.2745 intronic PFKFB3 Reference - - - - - - - - PFKFB3 chr10 6368744 6368744 - C 6/3(0.33) 107 9 het unknown insertion chr10 - - - - ncRNA_intronic LOC399715 Reference - - - - - - - - LOC399715 chr10 7605078 7605078 C - 0/71(1.00) 3070 71 hom splicing deletion chr10 rs61199416 0.99 - 0.6740 splicing ITIH5 Reference - - - - - - - - NM_030569,exon16,c.2797-1G>-);NM_032817,exon12,c.2155-1G>- chr10 7765110 7765110 - AGTGA 3/3(0.50) 131 6 het unknown insertion chr10 - - - 0.1471 intronic ITIH2 Reference - - - - - - - - ITIH2 chr10 11308791 11308792 TC - 0/23(1.00) 1207 23 hom unknown deletion chr10 rs72051267 - - 0.3750 intronic CELF2 Reference - - - - - - - - CELF2 chr10 11316814 11316817 AGTG - 0/13(1.00) 675 13 hom unknown deletion chr10 rs67013685 0.97 - 0.3358 intronic CELF2 Reference - - - - - - - - CELF2 chr10 11356093 11356093 - TTTG 0/13(1.00) 776 13 hom unknown insertion chr10 rs5783207 - 0.990792 0.5074 intronic CELF2 Reference - - - - - - - - CELF2 chr10 11791742 11791749 CCAGCAAT - 0/11(1.00) 565 11 hom unknown deletion chr10 rs58243400 - - 0.3824 intronic ECHDC3 Reference - - - - - - - - ECHDC3 chr10 12142284 12142284 - TTTTTTTTTTTTT 9/2(0.18) 83 11 het unknown insertion chr10 - - - 0.0221 intronic DHTKD1 Reference - - - - - - - - DHTKD1 chr10 12209937 12209937 T - 10/13(0.57) 272 23 het unknown deletion chr10 rs71513318 0.52 - 0.3358 intronic NUDT5;SEC61A2 Reference - - - - - - - - NUDT5;SEC61A2 chr10 12291536 12291539 AAAT - 26/18(0.41) 822 44 het unknown deletion chr10 rs141768859 0.09 0.024760 0.0858 intronic CDC123 Reference - - - - - - - - CDC123 chr10 12833004 12833004 A - 18/20(0.53) 243 38 het unknown deletion chr10 rs10717134 - - 0.3603 intronic CAMK1D Reference - - - - - - - - CAMK1D chr10 13489148 13489148 - GCAGA 15/11(0.42) 574 26 het unknown insertion chr10 rs10675399 0.10 - 0.1078 intronic BEND7 Reference - - - - - - - - BEND7 chr10 13489201 13489201 - T 40/22(0.35) 1158 62 het unknown insertion chr10 rs11408564 0.18 0.380192 0.1887 intronic BEND7 Reference - - - - - - - - BEND7 chr10 13494397 13494398 AA - 2/4(0.67) 128 6 het unknown deletion chr10 rs3832669 0.69 - 0.3015 intronic BEND7 Reference - - - - - - - - BEND7 chr10 13541724 13541724 - AAAAC 14/10(0.42) 494 24 het unknown insertion chr10 rs113234105 - 0.548650 0.3064 intronic BEND7 Reference - - - - - - - - BEND7 chr10 13705308 13705309 CT - 0/19(1.00) 1006 19 hom unknown deletion chr10 rs55876188 0.85 - 0.3578 intronic FRMD4A Reference - - - - - - - - FRMD4A chr10 14868023 14868028 AGAAGG - 2/7(0.78) 224 9 het unknown deletion chr10 - - - 0.0735 intronic CDNF Reference - - - - - - - - CDNF chr10 14920731 14920731 - G 7/10(0.59) 311 17 het unknown insertion chr10 - - - 0.0515 upstream SUV39H2 Reference - - - - - - - - SUV39H2 chr10 15317835 15317835 A - 5/5(0.50) 95 10 het unknown deletion chr10 rs45612734 - - 0.2451 intronic FAM171A1 Reference - - - - - - - - FAM171A1 chr10 16737165 16737165 - AA 19/16(0.46) 784 35 het unknown insertion chr10 - - - 0.2574 intronic RSU1 Reference - - - - - - - - RSU1 chr10 16916608 16916610 TAA - 14/14(0.50) 629 28 het unknown deletion chr10 rs3831351 0.33 - 0.2475 intronic CUBN Reference - - - - - - - - CUBN chr10 17007818 17007818 - T 6/5(0.45) 226 11 het unknown insertion chr10 rs74741436 0.32 - 0.2475 intronic CUBN Reference - - - - - - - - CUBN chr10 17007847 17007847 - A 7/6(0.46) 299 13 het unknown insertion chr10 rs71377011 0.31 - 0.2721 intronic CUBN Reference - - - - - - - - CUBN chr10 17204247 17204247 A - 6/21(0.78) 99 27 het unknown deletion chr10 rs111781208 - - 0.2941 intronic TRDMT1 Reference - - - - - - - - TRDMT1 chr10 18087630 18087631 TG - 1/50(0.98) 2655 51 hom unknown deletion chr10 rs199734634 0.16 0.238047 0.1152 intronic MRC1 Reference - - - - - - - - MRC1 chr10 18804255 18804258 CTTT - 2/2(0.50) 58 4 het unknown deletion chr10 rs143534544 0.26 - 0.1961 intronic CACNB2 Reference - - - - - - - - CACNB2 chr10 18828721 18828721 - AA 20/6(0.23) 220 26 het unknown insertion chr10 - 0.70 - 0.3775 3-UTR CACNB2 Reference - - - - - - - - CACNB2 chr10 18875051 18875051 - A 14/6(0.30) 31 20 het unknown insertion chr10 - - - - intronic NSUN6 Reference - - - - - - - - NSUN6 chr10 18898729 18898729 - T 2/4(0.67) 194 6 het unknown insertion chr10 - - 0.199504 0.2108 intronic NSUN6 Reference - - - - - - - - NSUN6 chr10 18937579 18937579 - AAG 0/16(1.00) 965 16 hom unknown insertion chr10 rs76261705 - 0.537810 0.3824 intronic NSUN6 Reference - - - - - - - - NSUN6 chr10 18940185 18940185 - T 10/12(0.55) 158 22 het unknown insertion chr10 - - 0.311591 0.3211 5-UTR NSUN6 Reference - - - - - - - - NSUN6 chr10 18957753 18957753 C - 3/3(0.50) 108 6 het unknown deletion chr10 rs34839131 0.70 - 0.2770 intronic ARL5B Reference - - - - - - - - ARL5B chr10 19641240 19641241 TG - 33/23(0.41) 1062 56 het unknown deletion chr10 rs10616221 0.84 - 0.4706 intergenic ARL5B;PLXDC2 Reference - - - - - - - - PLXDC2(dist=464131);ARL5B(dist=674300) chr10 19904871 19904872 TT - 0/26(1.00) 475 26 hom unknown deletion chr10 rs68023011 - - 0.2721 intergenic ARL5B;PLXDC2 Reference - - - - - - - - PLXDC2(dist=200500);ARL5B(dist=937931) chr10 21177157 21177157 A - 0/13(1.00) 386 13 hom unknown deletion chr10 rs67288319 0.42 0.595124 0.2868 intronic NEBL Reference - - - - - - - - NEBL chr10 21435341 21435344 CACT - 99/104(0.51) 3070 203 het frameshift deletion chr10 rs72102767 0.32 0.193610 0.3725 exonic C10orf113 Reference - - - - - - - - C10orf113,NM_001010896,exon1,c.94_97del,p.32_33del;C10orf113,NM_001177483,exon1,c.94_97del,p.32_33del chr10 21461410 21461410 - A 10/11(0.52) 63 21 het unknown insertion chr10 rs11421235 - - 0.2966 intronic NEBL Reference - - - - - - - - NEBL chr10 22828842 22828843 GA - 4/6(0.60) 288 10 het unknown deletion chr10 rs150482394 - - 0.2574 intronic PIP4K2A Reference - - - - - - - - PIP4K2A chr10 24722235 24722241 TTTTTTG - 1/4(0.80) 165 5 het unknown deletion chr10 rs199518984 - - 0.1593 intronic KIAA1217 Reference - - - - - - - - KIAA1217 chr10 24884780 24884780 A - 0/29(1.00) 806 29 hom unknown deletion chr10 rs3833494 0.33 - 0.3284 intronic ARHGAP21 Reference - - - - - - - - ARHGAP21 chr10 25464310 25464310 C - 2/3(0.60) 33 5 het unknown deletion chr10 rs55717617 - 0.093975 0.2230 ncRNA_UTR5 GPR158 Reference - - - - - - - - GPR158 chr10 25755716 25755716 - AC 4/3(0.43) 128 7 het unknown insertion chr10 - - - 0.0613 intronic GPR158 Reference - - - - - - - - GPR158 chr10 25755733 25755736 ACAT - 3/4(0.57) 143 7 het unknown deletion chr10 rs67115852 0.82 - 0.3137 intronic GPR158 Reference - - - - - - - - GPR158 chr10 25877860 25877863 AAAC - 12/6(0.33) 238 18 het unknown deletion chr10 rs144466352 0.50 - 0.3015 intronic GPR158 Reference - - - - - - - - GPR158 chr10 26825151 26825151 G - 3/6(0.67) 252 9 het unknown deletion chr10 - - - - intronic APBB1IP Reference - - - - - - - - APBB1IP chr10 26993598 26993598 T - 4/9(0.69) 306 13 het unknown deletion chr10 rs34296355 0.34 0.264160 0.2672 intronic PDSS1 Reference - - - - - - - - PDSS1 chr10 27455903 27455926 ATATGTAATTCTTAATACATATTA - 4/5(0.56) 208 9 het unknown deletion chr10 rs67614903 - - 0.0490 intronic MASTL Reference - - - - - - - - MASTL chr10 27512449 27512449 A - 8/8(0.50) 284 16 het unknown deletion chr10 rs59068315 0.10 - 0.0882 intronic ACBD5 Reference - - - - - - - - ACBD5 chr10 28151605 28151605 T - 0/19(1.00) 656 19 hom unknown deletion chr10 rs34181914 0.42 - 0.3309 intronic ARMC4 Reference - - - - - - - - ARMC4 chr10 28438836 28438840 CTGCA - 10/14(0.58) 660 24 het unknown deletion chr10 rs72381252 0.36 - 0.2941 intronic MPP7 Reference - - - - - - - - MPP7 chr10 29747313 29747313 T - 0/136(1.00) 3070 136 hom unknown deletion chr10 rs5784138 0.28 0.122843 0.3211 intronic SVIL Reference - - - - - - - - SVIL chr10 29759175 29759175 G - 0/52(1.00) 1870 52 hom unknown deletion chr10 rs3215848 0.53 - 0.4534 intronic SVIL Reference - - - - - - - - SVIL chr10 32307534 32307534 - A 0/11(1.00) 650 11 hom unknown insertion chr10 rs11428920 - - 0.3554 intronic KIF5B Reference - - - - - - - - KIF5B chr10 32974874 32974874 - AATAGATAAATAC 11/11(0.50) 586 22 het unknown insertion chr10 rs148671234 - 0.069885 0.2475 intronic C10orf68 Reference - - - - - - - - C10orf68 chr10 33093859 33093860 AC - 3/4(0.57) 136 7 het unknown deletion chr10 rs35054696 - - 0.2770 intronic C10orf68 Reference - - - - - - - - C10orf68 chr10 33134696 33134696 - AC 2/3(0.60) 134 5 het unknown insertion chr10 rs145287806 - - 0.1593 intronic C10orf68 Reference - - - - - - - - C10orf68 chr10 33197131 33197134 CTTT - 5/6(0.55) 258 11 het unknown deletion chr10 rs77744583 0.21 - 0.1887 intronic ITGB1 Reference - - - - - - - - ITGB1 chr10 33471762 33471763 CA - 1/5(0.83) 218 6 het unknown deletion chr10 rs148435065 - - 0.2525 intronic NRP1 Reference - - - - - - - - NRP1 chr10 33483838 33483839 AT - 0/14(1.00) 730 14 hom unknown deletion chr10 rs149169549 0.71 - 0.3554 intronic NRP1 Reference - - - - - - - - NRP1 chr10 33496681 33496681 - AG 4/4(0.50) 188 8 het unknown insertion chr10 - - 0.187380 0.1618 intronic NRP1 Reference - - - - - - - - NRP1 chr10 34663982 34663983 AC - 2/3(0.60) 95 5 het unknown deletion chr10 rs35263377 - - 0.1348 intronic PARD3 Reference - - - - - - - - PARD3 chr10 34985197 34985197 - A 26/23(0.47) 274 49 het unknown insertion chr10 - - 0.501438 0.3505 intronic PARD3 Reference - - - - - - - - PARD3 chr10 38260559 38260560 AC - 3/3(0.50) 52 6 het unknown deletion chr10 rs67120012 - - 0.0711 intronic ZNF25 Reference - - - - - - - - ZNF25 chr10 38260559 38260566 ACACACAC - 3/3(0.50) 52 6 het unknown deletion chr10 - - - 0.0662 intronic ZNF25 Reference - - - - - - - - ZNF25 chr10 38260559 38260568 ACACACACAC - 3/3(0.50) 52 6 het unknown deletion chr10 rs200231946 - - 0.0613 intronic ZNF25 Reference - - - - - - - - ZNF25 chr10 42928669 42928677 GAGTCTATC - 1/36(0.97) 1882 37 hom unknown deletion chr10 rs67090148 0.35 - 0.3358 ncRNA_intronic CCNYL2 Reference - - - - - - - - CCNYL2 chr10 43280058 43280059 TT - 0/69(1.00) 2231 69 hom unknown deletion chr10 rs55869085 - 0.999920 0.4828 intronic BMS1 Reference - - - - - - - - BMS1 chr10 43671379 43671379 T - 4/8(0.67) 44 12 het unknown deletion chr10 rs61579799 - - 0.3309 intronic CSGALNACT2 Reference - - - - - - - - CSGALNACT2 chr10 43883389 43883389 A - 5/9(0.64) 74 14 het unknown deletion chr10 rs201660330 - - 0.2475 intronic HNRNPF Reference - - - - - - - - HNRNPF chr10 46968880 46968881 AC - 1/7(0.88) 334 8 het unknown deletion chr10 rs10588658 - - 0.2745 intronic SYT15 Reference - - - - - - - - SYT15 chr10 46998720 46998723 TCAC - 27/20(0.43) 924 47 het unknown deletion chr10 rs66608669 - - 0.4338 intronic GPRIN2 Reference - - - - - - - - GPRIN2 chr10 46999591 46999591 - ATGAGGGAG 54/40(0.43) 2149 94 het nonframeshift insertion chr10 rs112620425 - 0.483703 0.5515 exonic GPRIN2 Reference - - - - - - - - GPRIN2,NM_014696,exon3,c.711_712insATGAGGGAG,p.G237delinsGMRE chr10 47680514 47680515 CC - 5/4(0.44) 77 9 het unknown deletion chr10 rs143067413 0.21 - 0.1863 intronic ANTXRL Reference - - - - - - - - ANTXRL chr10 49633879 49633879 - TGTAAATG 1/3(0.75) 137 4 het unknown insertion chr10 - - 0.353210 0.1961 intronic MAPK8 Reference - - - - - - - - MAPK8 chr10 50190923 50190923 - A 6/13(0.68) 189 19 het unknown insertion chr10 rs113012579 - - 0.4020 3-UTR WDFY4 Reference - - - - - - - - WDFY4 chr10 50534969 50534969 - AC 2/4(0.67) 170 6 het unknown insertion chr10 - - - 0.0196 3-UTR C10orf71 Reference - - - - - - - - C10orf71 chr10 50534969 50534969 - ACACACAC 2/4(0.67) 170 6 het unknown insertion chr10 - - - 0.0098 3-UTR C10orf71 Reference - - - - - - - - C10orf71 chr10 50820557 50820558 TC - 5/7(0.58) 310 12 het unknown deletion chr10 - - - - 3-UTR SLC18A3 Reference - - - - - - - - SLC18A3 chr10 50830084 50830084 - AGA 22/3(0.12) 70 25 het unknown insertion chr10 rs138783927 - - 0.1765 intronic CHAT Reference - - - - - - - - CHAT chr10 51623014 51623014 - A 18/21(0.54) 365 39 het unknown insertion chr10 rs35152306 - - 0.2549 intronic TIMM23 Reference - - - - - - - - TIMM23 chr10 51623052 51623052 - T 65/33(0.34) 1637 98 het unknown insertion chr10 rs143369288 - - 0.4485 intronic TIMM23 Reference - - - - - - - - TIMM23 chr10 52751070 52751070 - GCC 9/7(0.44) 353 16 het unknown insertion chr10 - - - 0.0858 5-UTR PRKG1 Reference - - - - - - - - PRKG1 chr10 55590943 55590946 AGAC - 0/76(1.00) 3070 76 hom unknown deletion chr10 rs66893390 0.76 - 0.4265 intronic PCDH15 Reference - - - - - - - - PCDH15 chr10 55626630 55626630 - A 2/45(0.96) 1159 47 hom unknown insertion chr10 rs35741077 0.75 - 0.4314 intronic PCDH15 Reference - - - - - - - - PCDH15 chr10 55892600 55892600 - AC 2/9(0.82) 481 11 het unknown insertion chr10 - - - 0.0588 intronic PCDH15 Reference - - - - - - - - PCDH15 chr10 60273190 60273193 CGGC - 25/12(0.32) 513 37 het unknown deletion chr10 rs10571555 0.45 - 0.3627 intronic BICC1 Reference - - - - - - - - BICC1 chr10 61083690 61083690 - GTTG 0/31(1.00) 1909 31 hom unknown insertion chr10 rs34090373 - - 0.3824 intronic FAM13C Reference - - - - - - - - FAM13C chr10 61122268 61122268 - TA 0/25(1.00) 1531 25 hom unknown insertion chr10 rs3078330 - 0.996165 0.5074 5-UTR FAM13C Reference - - - - - - - - FAM13C chr10 61564021 61564022 TT - 0/13(1.00) 562 13 hom unknown deletion chr10 rs3841635 0.34 - 0.2059 intronic CCDC6 Reference - - - - - - - - CCDC6 chr10 61574357 61574357 - AC 24/27(0.53) 1461 51 het unknown insertion chr10 - - - 0.0711 intronic CCDC6 Reference - - - - - - - - CCDC6 chr10 61802577 61802577 - C 0/60(1.00) 3070 60 hom unknown insertion chr10 rs5785427 - 0.993610 0.4387 intronic ANK3 Reference - - - - - - - - ANK3 chr10 62551816 62551816 C - 13/4(0.24) 130 17 het unknown deletion chr10 rs3212319 0.17 0.283512 0.1593 intronic CDK1 Reference - - - - - - - - CDK1 chr10 63422754 63422754 - GGGCCGACCCCGGCA 1/40(0.98) 2351 41 hom unknown insertion chr10 - - - 0.3627 5-UTR C10orf107 Reference - - - - - - - - C10orf107 chr10 63977012 63977016 AAAAA - 2/78(0.97) 127 80 het unknown deletion chr10 rs148142088 - - 0.4142 intronic RTKN2 Reference - - - - - - - - RTKN2 chr10 64967951 64967956 CTAAAC - 82/73(0.47) 3070 155 het nonframeshift deletion chr10 rs139722368 0.21 0.020611 0.2941 exonic JMJD1C Reference - - - - - - - - JMJD1C,NM_001282948,exon9,c.2927_2932del,p.976_978del;JMJD1C,NM_004241,exon7,c.2816_2821del,p.939_941del;JMJD1C,NM_032776,exon10,c.3473_3478del,p.1158_1160del chr10 65322464 65322464 - TCAG 21/18(0.46) 908 39 het unknown insertion chr10 rs36027145 0.33 - 0.2500 intronic REEP3 Reference - - - - - - - - REEP3 chr10 68535082 68535082 - T 2/39(0.95) 1276 41 hom unknown insertion chr10 - - - 0.3897 intronic CTNNA3 Reference - - - - - - - - CTNNA3 chr10 69750789 69750789 A - 0/18(1.00) 315 18 hom unknown deletion chr10 rs5785841 - - 0.3578 intronic HERC4 Reference - - - - - - - - HERC4 chr10 69785435 69785435 - A 1/107(0.99) 3070 108 hom splicing insertion chr10 rs143275596 0.42 0.103674 0.3775 splicing HERC4 Reference - - - - - - - - NM_001278186,exon7,c.13-2->T;NM_015601,exon9,c.778-2->T;HERC4(NM_001278185,exon9,c.778-2->T;NM_022079,exon9,c.778-2->T) chr10 69799092 69799092 G - 6/0(0.00) 68 6 het unknown deletion chr10 - - - 0.0343 intronic HERC4 Reference - - - - - - - - HERC4 chr10 70051808 70051808 - A 17/17(0.50) 395 34 het unknown insertion chr10 rs200571555 0.15 - 0.1716 intronic PBLD Reference - - - - - - - - PBLD chr10 70097502 70097502 - TTTTG 5/9(0.64) 482 14 het unknown insertion chr10 rs71470514 - - 0.3627 intronic HNRNPH3 Reference - - - - - - - - HNRNPH3 chr10 70204846 70204846 A - 3/4(0.57) 56 7 het unknown deletion chr10 rs201474338 0.04 - - intronic DNA2 Reference - - - - - - - - DNA2 chr10 71145864 71145864 - TT 4/3(0.43) 128 7 het unknown insertion chr10 rs35451830 0.66 - 0.2721 intronic HK1 Reference - - - - - - - - HK1 chr10 71174637 71174638 AC - 36/5(0.12) 114 41 het unknown deletion chr10 rs150956058 - - 0.0098 intronic TACR2 Reference - - - - - - - - TACR2 chr10 71267407 71267407 G - 6/5(0.45) 144 11 het unknown deletion chr10 - - - 0.0025 3-UTR TSPAN15 Reference - - - - - - - - TSPAN15 chr10 71391719 71391719 - TGGGTAAGACT 0/18(1.00) 890 18 hom unknown insertion chr10 rs144716370 - - 0.3873 intronic C10orf35 Reference - - - - - - - - C10orf35 chr10 71620436 71620436 - C 0/26(1.00) 1511 26 hom unknown insertion chr10 rs71471568 0.97 - 0.4167 intronic COL13A1 Reference - - - - - - - - COL13A1 chr10 71649065 71649083 GGGGGCAGGGAGGAGCACA - 9/7(0.44) 299 16 het unknown deletion chr10 rs143450012 - - 0.1176 intronic COL13A1 Reference - - - - - - - - COL13A1 chr10 71905802 71905819 CTCTCAGTTGATCCGCCT - 72/28(0.28) 1221 100 het nonframeshift deletion chr10 - - - 0.0098 exonic TYSND1 Reference - - - - - - - - TYSND1,NM_173555,exon1,c.524_541del,p.175_181del;TYSND1,NM_001040273,exon1,c.524_541del,p.175_181del chr10 72020511 72020511 C - 39/27(0.41) 842 66 het unknown deletion chr10 rs77100291 0.08 - 0.1201 intronic NPFFR1 Reference - - - - - - - - NPFFR1 chr10 72207518 72207518 C - 0/34(1.00) 1540 34 hom unknown deletion chr10 rs34717077 0.70 - 0.3848 intergenic NODAL;PALD1 Reference - - - - - - - - NODAL(dist=6053);PALD1(dist=31046) chr10 72532107 72532117 TAAATATTTGT - 0/52(1.00) 2779 52 hom unknown deletion chr10 rs3832689 0.50 - 0.3260 intronic TBATA Reference - - - - - - - - TBATA chr10 72635144 72635145 TT - 11/12(0.52) 287 23 het unknown deletion chr10 rs3998628 - - 0.2843 intronic SGPL1 Reference - - - - - - - - SGPL1 chr10 73500481 73500481 A - 9/7(0.44) 225 16 het unknown deletion chr10 rs141298136 0.20 - 0.2059 intronic CDH23 Reference - - - - - - - - CDH23 chr10 73512920 73512920 A - 6/5(0.45) 160 11 het unknown deletion chr10 rs3833467 0.62 - 0.3382 intronic C10orf54;CDH23 Reference - - - - - - - - CDH23;C10orf54 chr10 73571581 73571581 - CT 7/4(0.36) 179 11 het unknown insertion chr10 rs140848302 - 0.771707 0.3676 intronic CDH23 Reference - - - - - - - - CDH23 chr10 74237247 74237247 - T 0/71(1.00) 3070 71 hom unknown insertion chr10 - 0.63 - 0.3627 ncRNA_intronic MIR1256 Reference - - - - - - - - MIR1256 chr10 74886393 74886393 C - 22/16(0.42) 591 38 het unknown deletion chr10 rs3833730 0.32 0.159105 0.3333 intronic NUDT13 Reference - - - - - - - - NUDT13 chr10 75013884 75013885 CT - 7/5(0.42) 200 12 het unknown deletion chr10 rs151007284 0.32 - 0.2475 ncRNA_intronic DNAJC9-AS1 Reference - - - - - - - - DNAJC9-AS1 chr10 75053203 75053203 T - 17/12(0.41) 406 29 het unknown deletion chr10 rs11317044 0.32 - 0.2892 intronic TTC18 Reference - - - - - - - - TTC18 chr10 75072219 75072219 T - 27/11(0.29) 454 38 het unknown deletion chr10 - - - - intronic TTC18 Reference - - - - - - - - TTC18 chr10 75147544 75147544 - GAA 73/47(0.39) 2522 120 het unknown insertion chr10 rs3834898 0.32 0.093850 0.3064 intronic ANXA7 Reference - - - - - - - - ANXA7 chr10 75147651 75147651 G - 7/4(0.36) 88 11 het unknown deletion chr10 rs3834897 0.32 - 0.2500 intronic ANXA7 Reference - - - - - - - - ANXA7 chr10 75214138 75214138 A - 6/9(0.60) 95 15 het unknown deletion chr10 rs61458056 - - 0.2328 intronic PPP3CB Reference - - - - - - - - PPP3CB chr10 75560383 75560383 - TATC 30/28(0.48) 1548 58 het unknown insertion chr10 rs145031720 0.10 0.122162 0.1275 ncRNA_intronic ZSWIM8-AS1 Reference - - - - - - - - ZSWIM8-AS1 chr10 75607697 75607697 A - 0/29(1.00) 1308 29 hom unknown deletion chr10 rs67135801 - 0.999361 0.4093 intronic CAMK2G Reference - - - - - - - - CAMK2G chr10 75874166 75874166 - GT 2/3(0.60) 146 5 het unknown insertion chr10 - - - 0.0196 intronic VCL Reference - - - - - - - - VCL chr10 76781906 76781908 GAA - 54/63(0.54) 3034 117 het nonframeshift deletion chr10 rs71929101 - - 0.3676 exonic KAT6B Reference - - - - - - - - KAT6B,NM_001256468,exon16,c.2740_2742del,p.914_914del;KAT6B,NM_001256469,exon16,c.2413_2415del,p.805_805del;KAT6B,NM_012330,exon16,c.3289_3291del,p.1097_1097del chr10 78839127 78839127 - GT 1/4(0.80) 179 5 het unknown insertion chr10 - - - 0.1029 intronic KCNMA1 Reference - - - - - - - - KCNMA1 chr10 78868166 78868168 AAA - 19/19(0.50) 46 38 het unknown deletion chr10 rs138226779 - - 0.2525 intronic KCNMA1 Reference - - - - - - - - KCNMA1 chr10 79397495 79397495 - GCTGCC 2/4(0.67) 147 6 het unknown insertion chr10 - - - 0.2206 5-UTR KCNMA1 Reference - - - - - - - - KCNMA1 chr10 81272294 81272294 - GGCGGCGGC 5/4(0.44) 185 9 het unknown insertion chr10 - - - 0.1005 upstream EIF5AL1 Reference - - - - - - - - EIF5AL1 chr10 81318593 81318593 - G 15/11(0.42) 539 26 het unknown insertion chr10 rs199733516 0.19 0.127877 0.1912 intronic SFTPA2 Reference - - - - - - - - SFTPA2 chr10 81372232 81372232 G - 13/17(0.57) 808 30 het unknown deletion chr10 rs4253514 0.45 0.189258 0.4338 intronic SFTPA1 Reference - - - - - - - - SFTPA1 chr10 81925796 81925810 GCGCACACACACACA GCA het unknown substitution chr10 - - - - intronic ANXA11 Reference - - - - - - - - ANXA11 chr10 81925797 81925810 CGCACACACACACA - 1/33(0.97) 383 34 het unknown deletion chr10 - - 0.038899 - intronic ANXA11 Reference - - - - - - - - ANXA11 chr10 82045064 82045067 TAAT - 0/15(1.00) 785 15 hom unknown deletion chr10 rs66900704 0.97 - 0.3456 intronic MAT1A Reference - - - - - - - - MAT1A chr10 82049251 82049251 - TTCTTC 0/21(1.00) 1245 21 hom unknown insertion chr10 rs145126070 - - 0.4093 5-UTR MAT1A Reference - - - - - - - - MAT1A chr10 85958659 85958662 AGAG - 9/6(0.40) 246 15 het unknown deletion chr10 rs113539611 - - 0.1152 intronic CDHR1 Reference - - - - - - - - CDHR1 chr10 86198221 86198225 ATTGT - 9/4(0.31) 142 13 het unknown deletion chr10 rs147451516 0.08 0.044684 0.1373 intronic CCSER2 Reference - - - - - - - - CCSER2 chr10 88426615 88426615 C - 20/29(0.59) 979 49 het unknown deletion chr10 rs34106786 0.46 - 0.3775 downstream OPN4 Reference - - - - - - - - OPN4 chr10 88459001 88459002 TC - 2/16(0.89) 562 18 het unknown deletion chr10 - - - - intronic LDB3 Reference - - - - - - - - LDB3 chr10 88458997 88459002 TCTCTC - 2/16(0.89) 562 18 het unknown deletion chr10 rs139252694 - - 0.3186 intronic LDB3 Reference - - - - - - - - LDB3 chr10 88486103 88486103 T - 12/9(0.43) 394 21 het unknown deletion chr10 rs34647099 0.57 - 0.3676 intronic LDB3 Reference - - - - - - - - LDB3 chr10 88492254 88492261 TGTTTGTT - 11/5(0.31) 175 16 het unknown deletion chr10 rs71487280 - - 0.2917 intronic LDB3 Reference - - - - - - - - LDB3 chr10 89419638 89419638 - GCT 12/14(0.54) 718 26 het unknown insertion chr10 - - - 0.0196 5-UTR PAPSS2 Reference - - - - - - - - PAPSS2 chr10 89469084 89469087 ATAT - 2/4(0.67) 163 6 het unknown deletion chr10 rs72025574 - - 0.3848 intronic PAPSS2 Reference - - - - - - - - PAPSS2 chr10 90034983 90034983 T - 6/5(0.45) 160 11 het unknown deletion chr10 rs112956101 0.22 - 0.1495 intronic RNLS Reference - - - - - - - - RNLS chr10 90484423 90484423 A - 0/40(1.00) 1274 40 hom unknown deletion chr10 rs11358016 - 0.749027 0.3824 intronic LIPK Reference - - - - - - - - LIPK chr10 91137830 91137843 CCTTGAAGGAGCCT - 65/32(0.33) 1445 97 het unknown deletion chr10 rs200301904 - - 0.0662 5-UTR IFIT1B Reference - - - - - - - - IFIT1B chr10 92632205 92632205 T - 2/3(0.60) 79 5 het unknown deletion chr10 rs34520335 0.25 - 0.1691 intronic RPP30 Reference - - - - - - - - RPP30 chr10 92638707 92638707 - AGT 0/13(1.00) 776 13 hom unknown insertion chr10 rs75192201 - - 0.3333 intronic RPP30 Reference - - - - - - - - RPP30 chr10 92678741 92678758 ATAAATAAATATATATAT - 0/20(1.00) 1023 20 hom unknown deletion chr10 rs72003210 - - 0.2745 intronic ANKRD1 Reference - - - - - - - - ANKRD1 chr10 93170366 93170366 G - 0/13(1.00) 561 13 hom unknown deletion chr10 rs71025355 0.99 0.999395 0.3603 ncRNA_intronic LOC100188947 Reference - - - - - - - - LOC100188947 chr10 93588248 93588248 T - 0/11(1.00) 323 11 hom unknown deletion chr10 rs3832677 0.21 - 0.2304 intronic TNKS2 Reference - - - - - - - - TNKS2 chr10 93600298 93600302 TGTTG - 0/54(1.00) 2923 54 hom unknown deletion chr10 rs111962010 0.21 0.199601 0.3064 intronic TNKS2 Reference - - - - - - - - TNKS2 chr10 93778521 93778521 T - 0/60(1.00) 1513 60 hom unknown deletion chr10 rs140447601 - 0.291054 0.3113 intronic BTAF1 Reference - - - - - - - - BTAF1 chr10 93784488 93784488 - GTTTTTTT 1/4(0.80) 197 5 het unknown insertion chr10 rs141297800 0.77 0.558969 0.1887 intronic BTAF1 Reference - - - - - - - - BTAF1 chr10 94366347 94366347 - T 0/11(1.00) 154 11 hom unknown insertion chr10 - - - 0.3064 intronic KIF11 Reference - - - - - - - - KIF11 chr10 94816807 94816807 - A 0/34(1.00) 1878 34 hom unknown insertion chr10 rs77700422 - 0.863978 0.4118 intronic EXOC6 Reference - - - - - - - - EXOC6 chr10 94826082 94826088 CCTGCCG - 1/3(0.75) 113 4 het unknown deletion chr10 - - - 0.0882 intronic CYP26C1 Reference - - - - - - - - CYP26C1 chr10 95121136 95121137 CA - 7/11(0.61) 513 18 het unknown deletion chr10 rs151121728 0.10 - 0.1078 intronic MYOF Reference - - - - - - - - MYOF chr10 95405666 95405667 TA - 0/14(1.00) 730 14 hom unknown deletion chr10 rs138672515 0.43 0.415335 0.3260 intronic PDE6C Reference - - - - - - - - PDE6C chr10 96827119 96827119 - A 20/22(0.52) 616 42 het unknown insertion chr10 - 0.41 0.304122 0.4093 intronic CYP2C8 Reference - - - - - - - - CYP2C8 chr10 97920099 97920099 - C 0/119(1.00) 3070 119 hom unknown insertion chr10 rs113178278 - - 0.4877 exonic ZNF518A Reference - - - - - - - - ZNF518A chr10 98105674 98105676 CTG - 0/53(1.00) 2831 53 hom unknown deletion chr10 rs3841416 0.47 0.129153 0.4020 3-UTR OPALIN Reference - - - - - - - - OPALIN chr10 98336613 98336613 - A 10/7(0.41) 46 17 het unknown insertion chr10 - - - 0.1544 intronic TM9SF3 Reference - - - - - - - - TM9SF3 chr10 98346637 98346637 C - 3/3(0.50) 76 6 het unknown deletion chr10 rs199747093 0.09 0.116711 0.0613 5-UTR TM9SF3 Reference - - - - - - - - TM9SF3 chr10 98778574 98778574 - TTCA 3/3(0.50) 131 6 het unknown insertion chr10 rs113945804 - - 0.1618 intronic SLIT1 Reference - - - - - - - - SLIT1 chr10 98780878 98780878 - CCTTGTTC 2/4(0.67) 194 6 het unknown insertion chr10 rs140758802 0.13 - 0.1299 intronic SLIT1 Reference - - - - - - - - SLIT1 chr10 99221176 99221177 AG - 7/13(0.65) 617 20 het unknown deletion chr10 rs29001327 0.02 - 0.0147 intronic MMS19 Reference - - - - - - - - MMS19 chr10 99642432 99642434 TCC - 9/5(0.36) 194 14 het unknown deletion chr10 rs3831315 - - 0.1005 intronic CRTAC1 Reference - - - - - - - - CRTAC1 chr10 100250020 100250029 ACACACACAC - 0/12(1.00) 620 12 hom unknown deletion chr10 rs59184373 - - 0.4632 intronic HPSE2 Reference - - - - - - - - HPSE2 chr10 101420161 101420161 A - 9/8(0.47) 203 17 het unknown deletion chr10 rs78669049 - - 0.2574 intronic ENTPD7 Reference - - - - - - - - ENTPD7 chr10 101480549 101480549 - G 6/4(0.40) 182 10 het unknown insertion chr10 rs56288771 - - 0.1544 intronic COX15 Reference - - - - - - - - COX15 chr10 101480604 101480604 - AG 0/21(1.00) 1279 21 hom unknown insertion chr10 rs3832650 0.76 - 0.3676 intronic COX15 Reference - - - - - - - - COX15 chr10 101926992 101926992 A - 24/21(0.47) 803 45 het unknown deletion chr10 rs11367256 0.08 - 0.1054 intronic ERLIN1 Reference - - - - - - - - ERLIN1 chr10 101934079 101934079 - T 16/12(0.43) 255 28 het unknown insertion chr10 rs113295336 0.09 0.135865 0.1005 intronic ERLIN1 Reference - - - - - - - - ERLIN1 chr10 102050971 102050971 - G 15/4(0.21) 142 19 het unknown insertion chr10 rs5787377 0.15 - 0.1618 intronic PKD2L1 Reference - - - - - - - - PKD2L1 chr10 102108345 102108345 - A 1/3(0.75) 137 4 het unknown insertion chr10 - - - 0.2377 intronic SCD Reference - - - - - - - - SCD chr10 102108346 102108346 - AC 1/3(0.75) 137 4 het unknown insertion chr10 - - - 0.2451 intronic SCD Reference - - - - - - - - SCD chr10 102116209 102116213 TCCCC - 30/43(0.59) 2113 73 het unknown deletion chr10 rs111712956 0.40 - 0.3627 intronic SCD Reference - - - - - - - - SCD chr10 102265057 102265058 AC - 15/5(0.25) 150 20 het unknown deletion chr10 rs140191147 - - 0.1544 intronic SEC31B Reference - - - - - - - - SEC31B chr10 102780355 102780355 G - 19/13(0.41) 445 32 het unknown deletion chr10 rs77484072 0.27 - 0.2279 intronic PDZD7 Reference - - - - - - - - PDZD7 chr10 102827757 102827757 - T 30/47(0.61) 2539 77 het unknown insertion chr10 rs75759946 0.22 - 0.2500 intergenic KAZALD1;TLX1NB Reference - - - - - - - - KAZALD1(dist=2406);TLX1NB(dist=21321) chr10 103221871 103221873 AGG - 0/27(1.00) 1448 27 hom unknown deletion chr10 rs5787432 0.99 0.996071 0.4216 intronic BTRC Reference - - - - - - - - BTRC chr10 103793182 103793186 TTTTT - 7/19(0.73) 166 26 het unknown deletion chr10 - - - 0.0098 intronic C10orf76 Reference - - - - - - - - C10orf76 chr10 103904764 103904764 C - 18/25(0.58) 563 43 het unknown deletion chr10 rs66983008 - - 0.4142 intronic PPRC1 Reference - - - - - - - - PPRC1 chr10 104111540 104111540 - ACC 36/37(0.51) 2068 73 het unknown insertion chr10 rs144741702 0.14 - 0.1765 intronic GBF1 Reference - - - - - - - - GBF1 chr10 104230931 104230941 TCGGTGCTGGG - 0/22(1.00) 1172 22 hom unknown deletion chr10 rs68007409 0.25 - 0.2819 intronic TMEM180 Reference - - - - - - - - TMEM180 chr10 104235799 104235799 - T 8/6(0.43) 107 14 het unknown insertion chr10 rs200893726 0.34 - 0.1373 3-UTR TMEM180 Reference - - - - - - - - TMEM180 chr10 104404969 104404970 CA - 17/3(0.15) 66 20 het unknown deletion chr10 rs144444424 - - 0.0074 intronic TRIM8 Reference - - - - - - - - TRIM8 chr10 104415094 104415094 T - 21/24(0.53) 1150 45 het unknown deletion chr10 rs34032774 0.14 0.323558 0.1446 intronic TRIM8 Reference - - - - - - - - TRIM8 chr10 104415811 104415821 CTCTCCCTGGA - 32/22(0.41) 1014 54 het unknown deletion chr10 rs144654418 0.15 0.300723 0.1348 intronic TRIM8 Reference - - - - - - - - TRIM8 chr10 104459080 104459081 AA - 0/27(1.00) 1214 27 hom unknown deletion chr10 rs59504153 - 0.997523 0.4559 intronic ARL3 Reference - - - - - - - - ARL3 chr10 104474047 104474049 CCT - 26/7(0.21) 249 33 het unknown deletion chr10 rs71019606 0.11 - 0.0735 5-UTR ARL3 Reference - - - - - - - - ARL3 chr10 104629793 104629793 - CTC 16/18(0.53) 991 34 het unknown insertion chr10 rs3832685 0.54 0.361815 0.4534 ncRNA_intronic C10orf32-ASMT Reference - - - - - - - - C10orf32-ASMT chr10 104857206 104857206 A - 17/17(0.50) 797 34 het unknown deletion chr10 rs34202831 0.16 - 0.1471 intronic NT5C2 Reference - - - - - - - - NT5C2 chr10 105428454 105428455 AG - 0/83(1.00) 3070 83 hom unknown deletion chr10 rs10533306 0.99 0.889025 0.4755 intronic SH3PXD2A Reference - - - - - - - - SH3PXD2A chr10 105561300 105561300 - ACACAC 1/5(0.83) 235 6 het unknown insertion chr10 rs148335179 - - - intronic SH3PXD2A Reference - - - - - - - - SH3PXD2A chr10 105727657 105727658 AG - 19/15(0.44) 668 34 het unknown deletion chr10 rs67597452 0.73 0.462300 0.5417 intronic SLK Reference - - - - - - - - SLK chr10 105781597 105781598 AT - 34/17(0.33) 746 51 het unknown deletion chr10 rs68117222 - - 0.1422 intronic SLK Reference - - - - - - - - SLK chr10 105797990 105798009 ACACACACACACACACACAC - 2/10(0.83) 433 12 het unknown deletion chr10 rs200030951 - - 0.3480 intronic COL17A1 Reference - - - - - - - - COL17A1 chr10 105799553 105799554 CG - 3/15(0.83) 632 18 het unknown deletion chr10 rs67083195 0.85 - 0.3407 intronic COL17A1 Reference - - - - - - - - COL17A1 chr10 105815202 105815202 - CTCA 0/18(1.00) 710 18 hom unknown insertion chr10 - - - - intronic COL17A1 Reference - - - - - - - - COL17A1 chr10 105831715 105831716 CA - 24/6(0.20) 202 30 het unknown deletion chr10 rs141284620 - - 0.0221 intronic COL17A1 Reference - - - - - - - - COL17A1 chr10 105932106 105932106 C - 10/8(0.44) 278 18 het unknown deletion chr10 - - - - intronic WDR96 Reference - - - - - - - - WDR96 chr10 105938914 105938915 AG - 0/13(1.00) 655 13 hom unknown deletion chr10 rs60561340 - - 0.2108 intronic WDR96 Reference - - - - - - - - WDR96 chr10 105938947 105938947 - TAGAA 10/4(0.29) 169 14 het unknown insertion chr10 rs201412327 0.01 - 0.0098 intronic WDR96 Reference - - - - - - - - WDR96 chr10 105973883 105973892 GTATGTGTGT - 9/9(0.50) 403 18 het unknown deletion chr10 rs199647213 0.01 - 0.0074 intronic WDR96 Reference - - - - - - - - WDR96 chr10 106602496 106602496 - T 0/68(1.00) 2682 68 hom unknown insertion chr10 rs77980249 0.85 0.600479 0.4314 intronic SORCS3 Reference - - - - - - - - SORCS3 chr10 106970849 106970849 G - 9/13(0.59) 612 22 het unknown deletion chr10 rs3214966 0.22 0.323243 0.2426 intronic SORCS3 Reference - - - - - - - - SORCS3 chr10 106974123 106974123 - ACACAC 27/26(0.49) 1437 53 het unknown insertion chr10 - - - 0.2010 intronic SORCS3 Reference - - - - - - - - SORCS3 chr10 108371571 108371571 - GTTT 0/43(1.00) 2638 43 hom unknown insertion chr10 rs137930414 0.82 - 0.3971 intronic SORCS1 Reference - - - - - - - - SORCS1 chr10 112327678 112327678 - A 0/32(1.00) 1972 32 hom unknown insertion chr10 rs55750861 - 0.805587 0.3554 intronic SMC3 Reference - - - - - - - - SMC3 chr10 114059331 114059340 CTCTGTTTTC - 0/75(1.00) 3070 75 hom unknown deletion chr10 rs11279253 0.67 0.584253 0.4118 intronic TECTB Reference - - - - - - - - TECTB chr10 114171385 114171385 - AC 2/5(0.71) 254 7 het unknown insertion chr10 rs3831106 - - 0.2206 intronic ACSL5 Reference - - - - - - - - ACSL5 chr10 114185856 114185856 - G 0/14(1.00) 794 14 hom unknown insertion chr10 rs77915719 0.99 - 0.3627 intronic ACSL5 Reference - - - - - - - - ACSL5 chr10 114903848 114903871 TGTGTGTGTGTCTGTGTGTGTGTG - 13/6(0.32) 220 19 het unknown deletion chr10 rs72143488 - - 0.0294 intronic TCF7L2 Reference - - - - - - - - TCF7L2 chr10 115349398 115349398 G - 0/26(1.00) 1070 26 hom unknown deletion chr10 rs11196388 - 0.984505 0.5098 intronic NRAP Reference - - - - - - - - NRAP chr10 115355171 115355171 - C 3/3(0.50) 111 6 het unknown insertion chr10 rs5788029 0.72 - 0.2721 intronic NRAP Reference - - - - - - - - NRAP chr10 115355293 115355293 - T 28/26(0.48) 444 54 het unknown insertion chr10 - - - 0.0196 intronic NRAP Reference - - - - - - - - NRAP chr10 115357132 115357132 A - 6/3(0.33) 99 9 het unknown deletion chr10 rs113389465 0.40 - 0.2745 intronic NRAP Reference - - - - - - - - NRAP chr10 115389043 115389043 T - 4/4(0.50) 52 8 het unknown deletion chr10 rs34658787 - - 0.1569 intronic NRAP Reference - - - - - - - - NRAP chr10 115401032 115401032 T - 0/20(1.00) 476 20 hom unknown deletion chr10 rs5788038 0.91 - 0.3775 intronic NRAP Reference - - - - - - - - NRAP chr10 115405703 115405703 - AA 2/48(0.96) 1117 50 hom unknown insertion chr10 - - - 0.4069 intronic NRAP Reference - - - - - - - - NRAP chr10 116060194 116060194 - G 0/100(1.00) 3070 100 hom unknown insertion chr10 - 0.99 0.932907 0.5564 intronic AFAP1L2 Reference - - - - - - - - AFAP1L2 chr10 116075271 116075271 - CC 0/18(1.00) 880 18 hom unknown insertion chr10 rs76983828 - - 0.4534 intronic AFAP1L2 Reference - - - - - - - - AFAP1L2 chr10 116931101 116931101 - TT 0/18(1.00) 1091 18 hom frameshift insertion chr10 - 0.99 0.952231 0.4142 exonic ATRNL1 Reference - - - - - - - - ATRNL1,NM_001276282,exon8,c.1399_1400insTT,p.L467fs chr10 118204040 118204040 T - 9/12(0.57) 208 21 het unknown deletion chr10 rs5788162 - 0.037620 0.1422 intronic PNLIPRP3 Reference - - - - - - - - PNLIPRP3 chr10 118363744 118363744 - C 0/15(1.00) 902 15 hom unknown insertion chr10 rs144846899 0.42 - 0.2966 intronic PNLIPRP1 Reference - - - - - - - - PNLIPRP1 chr10 118383463 118383463 - G 0/58(1.00) 3070 58 hom unknown insertion chr10 - - - 0.5196 exonic PNLIPRP2 Reference - - - - - - - - PNLIPRP2 chr10 118396277 118396277 - T 11/8(0.42) 405 19 het unknown insertion chr10 - - - 0.3039 intronic PNLIPRP2 Reference - - - - - - - - PNLIPRP2 chr10 118466663 118466666 CGCA - 3/6(0.67) 263 9 het unknown deletion chr10 - - - 0.0294 intronic HSPA12A Reference - - - - - - - - HSPA12A chr10 118708316 118708318 AGA - 0/22(1.00) 1172 22 hom unknown deletion chr10 rs10595325 - - 0.3775 intronic KIAA1598 Reference - - - - - - - - KIAA1598 chr10 118897630 118897632 GGC - 1/5(0.83) 55 6 het unknown deletion chr10 - - - 0.0662 5-UTR VAX1 Reference - - - - - - - - VAX1 chr10 118897632 118897632 C - 1/5(0.83) 55 6 het unknown deletion chr10 rs56950787 - - 0.1471 5-UTR VAX1 Reference - - - - - - - - VAX1 chr10 120070843 120070843 - A 2/25(0.93) 612 27 hom unknown insertion chr10 - - - 0.2157 intronic FAM204A Reference - - - - - - - - FAM204A chr10 120905943 120905946 GTGT - 0/17(1.00) 330 17 het unknown deletion chr10 - - - - intronic SFXN4 Reference - - - - - - - - SFXN4 chr10 120905941 120905946 GTGTGT - 0/17(1.00) 330 17 het unknown deletion chr10 - - - 0.0049 intronic SFXN4 Reference - - - - - - - - SFXN4 chr10 120905976 120905976 - GT 0/27(1.00) 1657 27 hom unknown insertion chr10 rs139492811 0.87 - 0.3676 intronic SFXN4 Reference - - - - - - - - SFXN4 chr10 121583464 121583464 - A 14/5(0.26) 217 19 het unknown insertion chr10 rs141235921 0.17 0.039623 0.2034 intronic INPP5F Reference - - - - - - - - INPP5F chr10 121601808 121601808 - A 1/4(0.80) 184 5 het unknown insertion chr10 rs150090052 0.17 - 0.1667 intronic MCMBP Reference - - - - - - - - MCMBP chr10 121675238 121675238 - TT 17/15(0.47) 206 32 het unknown insertion chr10 - - - 0.1103 intronic SEC23IP Reference - - - - - - - - SEC23IP chr10 122619467 122619470 ACAC - 8/5(0.38) 197 13 het unknown deletion chr10 rs68180664 - - 0.2549 ncRNA_intronic MIR5694 Reference - - - - - - - - MIR5694 chr10 122646160 122646160 - A 14/11(0.44) 193 25 het unknown insertion chr10 rs113031271 - 0.364297 0.3088 ncRNA_intronic MIR5694 Reference - - - - - - - - MIR5694 chr10 122648750 122648750 - TTTTGTTTTG 8/4(0.33) 174 12 het unknown insertion chr10 - - - 0.2598 ncRNA_intronic MIR5694 Reference - - - - - - - - MIR5694 chr10 123277666 123277666 - TA 12/9(0.43) 463 21 het unknown insertion chr10 rs148084347 0.08 - 0.0637 intronic FGFR2 Reference - - - - - - - - FGFR2 chr10 123724926 123724926 T - 29/37(0.56) 844 66 het unknown deletion chr10 rs76497370 0.15 0.137300 0.2034 intronic NSMCE4A Reference - - - - - - - - NSMCE4A chr10 123974999 123974999 - C 37/39(0.51) 958 76 het unknown insertion chr10 - - - 0.0147 intronic TACC2 Reference - - - - - - - - TACC2 chr10 123986119 123986119 A - 12/6(0.33) 219 18 het unknown deletion chr10 rs34932234 0.21 - 0.1740 intronic TACC2 Reference - - - - - - - - TACC2 chr10 123986127 123986127 - C 6/9(0.60) 409 15 het unknown insertion chr10 rs79672544 0.24 - 0.1863 intronic TACC2 Reference - - - - - - - - TACC2 chr10 124091855 124091855 - G 7/5(0.42) 125 12 het unknown insertion chr10 - 0.73 - 0.4093 intronic BTBD16 Reference - - - - - - - - BTBD16 chr10 124183688 124183688 - TTC 1/3(0.75) 114 4 het unknown insertion chr10 - 0.58 0.428892 0.0074 intronic PLEKHA1 Reference - - - - - - - - PLEKHA1 chr10 124189011 124189016 TGTGTG - 7/3(0.30) 96 10 het unknown deletion chr10 rs149340711 - - 0.2794 intronic PLEKHA1 Reference - - - - - - - - PLEKHA1 chr10 124214600 124214600 - GT 8/7(0.47) 353 15 het unknown insertion chr10 - 0.39 - 0.2892 intronic ARMS2 Reference - - - - - - - - ARMS2 chr10 124654346 124654346 T - 15/11(0.42) 102 26 het unknown deletion chr10 rs35248586 - - 0.3113 ncRNA_intronic LOC399815 Reference - - - - - - - - LOC399815 chr10 124812686 124812686 T - 16/16(0.50) 143 32 het unknown deletion chr10 rs11307362 - - 0.3848 intronic ACADSB Reference - - - - - - - - ACADSB chr10 125622251 125622251 A - 0/83(1.00) 3070 83 hom unknown deletion chr10 rs11299200 0.77 0.834425 0.4461 intronic CPXM2 Reference - - - - - - - - CPXM2 chr10 127529756 127529756 - TG 1/100(0.99) 3070 101 hom unknown insertion chr10 rs146907010 - - 0.3775 intronic BCCIP;DHX32 Reference - - - - - - - - BCCIP;DHX32 chr10 127584870 127584892 CCGCGGGTCGGCGACAGCGGGGA - 3/5(0.62) 210 8 het unknown deletion chr10 - - - 0.0490 upstream FANK1 Reference - - - - - - - - FANK1 chr10 127789604 127789605 CC - 5/4(0.44) 119 9 het unknown deletion chr10 rs138885139 0.07 - 0.1299 intronic ADAM12 Reference - - - - - - - - ADAM12 chr10 128806832 128806836 TAACT - 3/7(0.70) 316 10 het unknown deletion chr10 rs10542991 0.25 - 0.2010 intronic DOCK1 Reference - - - - - - - - DOCK1 chr10 129870623 129870623 A - 14/9(0.39) 97 23 het unknown deletion chr10 rs34882498 - - 0.3211 intronic PTPRE Reference - - - - - - - - PTPRE chr10 129871766 129871766 - G 9/7(0.44) 307 16 het unknown insertion chr10 rs3216057 0.27 0.224113 0.2402 intronic PTPRE Reference - - - - - - - - PTPRE chr10 131641361 131641361 - G 0/20(1.00) 668 20 hom unknown insertion chr10 rs113374013 - 0.583626 0.4265 intronic EBF3 Reference - - - - - - - - EBF3 chr10 131755652 131755652 - T 45/15(0.25) 42 60 het unknown insertion chr10 - - - 0.2230 intronic EBF3 Reference - - - - - - - - EBF3 chr10 133951502 133951502 A - 0/25(1.00) 1121 25 hom unknown deletion chr10 rs57086821 0.98 - 0.4265 intronic JAKMIP3 Reference - - - - - - - - JAKMIP3 chr10 133955569 133955569 - CG 0/33(1.00) 2035 33 hom unknown insertion chr10 rs147109671 - - 0.4583 intronic JAKMIP3 Reference - - - - - - - - JAKMIP3 chr10 133963043 133963043 C - 0/13(1.00) 455 13 hom unknown deletion chr10 rs112941338 0.85 0.674366 0.3186 intronic JAKMIP3 Reference - - - - - - - - JAKMIP3 chr10 134237249 134237249 - TGTG 19/16(0.46) 851 35 het unknown insertion chr10 rs150298334 - - 0.1348 intergenic PWWP2B;C10orf91 Reference - - - - - - - - C10orf91(dist=21465);PWWP2B(dist=5891) chr10 134726039 134726039 C - 8/5(0.38) 154 13 het unknown deletion chr10 - - - - intronic TTC40 Reference - - - - - - - - TTC40 chr10 134726046 134726046 - CAC 9/7(0.44) 299 16 het unknown insertion chr10 - - - - intronic TTC40 Reference - - - - - - - - TTC40 chr10 134726109 134726118 CTCTCTCTCT - 22/12(0.35) 523 34 het unknown deletion chr10 rs72401137 - - 0.1520 intronic TTC40 Reference - - - - - - - - TTC40 chr10 134943190 134943213 CCCTTCCTTGTGATCACACCCCTG - 3/3(0.50) 107 6 het unknown deletion chr10 - - - 0.1078 3-UTR GPR123 Reference - - - - - - - - GPR123 chr10 134997524 134997524 - CTTG 21/11(0.34) 555 32 het unknown insertion chr10 rs138319019 - 0.360064 0.3922 intronic KNDC1 Reference - - - - - - - - KNDC1 chr10 135084232 135084232 - AGA 0/39(1.00) 2413 39 hom unknown insertion chr10 rs5789159 - 0.865668 0.4902 intronic ADAM8 Reference - - - - - - - - ADAM8 chr10 135097228 135097228 G - 1/6(0.86) 270 7 het unknown deletion chr10 rs67681147 - - 0.3235 intronic TUBGCP2 Reference - - - - - - - - TUBGCP2 chr10 135103311 135103311 - GCCCGCTGCGCCGCGGACGCCAAGTCCCT 0/20(1.00) 1147 20 hom unknown insertion chr10 - - - 0.1912 intronic TUBGCP2 Reference - - - - - - - - TUBGCP2 chr10 135105961 135105961 - C 6/5(0.45) 183 11 het unknown insertion chr10 rs55672466 0.89 - 0.3309 intronic TUBGCP2 Reference - - - - - - - - TUBGCP2 chr10 135105965 135105966 CG - 5/8(0.62) 362 13 het unknown deletion chr10 - - - 0.0049 intronic TUBGCP2 Reference - - - - - - - - TUBGCP2 chr10 135105968 135105983 GTCCCTCCGTGTCCCC - 14/9(0.39) 377 23 het unknown deletion chr10 - - - 0.0711 intronic TUBGCP2 Reference - - - - - - - - TUBGCP2 chr10 135235404 135235404 - G 1/3(0.75) 127 4 het unknown insertion chr10 rs147046336 - - 0.2525 3-UTR SPRN Reference - - - - - - - - SPRN chr10 135278245 135278251 TGGGGTG - 4/23(0.85) 1146 27 het unknown deletion chr10 rs111769579 0.19 - 0.1863 ncRNA_exonic LOC619207 Reference - - - - - - - - LOC619207 chr10 135350490 135350490 - GATGGGTGGAT 7/3(0.30) 118 10 het unknown insertion chr10 rs147973606 0.49 - 0.3775 intronic CYP2E1 Reference - - - - - - - - CYP2E1 chr10 135473451 135473452 CT - 1/3(0.75) 114 4 het unknown deletion chr10 rs145401707 - - 0.0735 intergenic FRG2B;DUX4L2 Reference - - - - - - - - FRG2B(dist=33152);DUX4L2(dist=7106) chr11 194323 194323 - C 7/6(0.46) 89 13 het unknown insertion chr11 - - - 0.2623 intronic LOC653486;SCGB1C1 Reference - - - - - - - - SCGB1C1;LOC653486 chr11 207359 207359 - GGCCACAGCCGCCTCAGACGT 3/10(0.77) 554 13 het unknown insertion chr11 - - - 0.2574 5-UTR BET1L Reference - - - - - - - - BET1L chr11 209895 209897 CCC - 0/30(1.00) 1049 30 hom nonframeshift deletion chr11 rs4029256 0.72 0.310224 0.6005 exonic RIC8A Reference - - - - - - - - RIC8A,NM_001286134,exon3,c.621_623del,p.207_208del;RIC8A,NM_021932,exon3,c.621_623del,p.207_208del chr11 244491 244500 TACCTTTTAG - 0/84(1.00) 3070 84 hom unknown deletion chr11 rs3830667 0.81 0.767434 0.4314 intronic PSMD13 Reference - - - - - - - - PSMD13 chr11 244818 244818 A - 4/9(0.69) 185 13 het unknown deletion chr11 rs141244868 0.14 0.053839 0.1397 intronic PSMD13 Reference - - - - - - - - PSMD13 chr11 380774 380774 - C 36/38(0.51) 2009 74 het unknown insertion chr11 rs35355019 0.53 0.409026 0.3554 intronic B4GALNT4 Reference - - - - - - - - B4GALNT4 chr11 720958 720958 C - 1/3(0.75) 82 4 het unknown deletion chr11 rs67379680 - 0.123414 0.0147 intronic EPS8L2 Reference - - - - - - - - EPS8L2 chr11 801631 801631 - G 0/39(1.00) 1716 39 hom unknown insertion chr11 rs148357385 0.59 0.492889 0.4363 intronic PIDD Reference - - - - - - - - PIDD chr11 824988 824991 TGCA - 0/65(1.00) 3070 65 hom unknown deletion chr11 rs66460720 0.64 - 0.3701 3-UTR PNPLA2 Reference - - - - - - - - PNPLA2 chr11 836540 836540 G - 1/32(0.97) 659 33 hom unknown deletion chr11 rs56063221 - - 0.4583 intronic CD151 Reference - - - - - - - - CD151 chr11 840579 840579 C - 1/23(0.96) 596 24 hom unknown deletion chr11 rs34627090 - - 0.3799 intronic POLR2L Reference - - - - - - - - POLR2L chr11 1018089 1018089 G - 95/16(0.14) 367 111 het frameshift deletion chr11 - - - 0.0760 exonic MUC6 Reference - - - - - - - - MUC6,NM_005961,exon31,c.4712delC,p.P1571fs chr11 1018093 1018093 - T 97/16(0.14) 615 113 het frameshift insertion chr11 - - - 0.0809 exonic MUC6 Reference - - - - - - - - MUC6,NM_005961,exon31,c.4707dupA,p.P1570fs chr11 1079535 1079537 CGC - 3/3(0.50) 108 6 het unknown deletion chr11 rs72294572 - - 0.1225 intronic MUC2 Reference - - - - - - - - MUC2 chr11 1093303 1093308 ACCCCA - 116/11(0.09) 200 127 het nonframeshift deletion chr11 - - - 0.0760 exonic MUC2 Reference - - - - - - - - MUC2,NM_002457,exon30,c.5122_5127del,p.1708_1709del chr11 1212782 1212782 - G 151/20(0.12) 694 171 het unknown insertion chr11 - - - 0.0074 intergenic MUC2;MUC5B Reference - - - - - - - - MUC5B(dist=31513);MUC2(dist=108366) chr11 1212784 1212784 - A 20/154(0.89) 3070 174 het unknown insertion chr11 rs146135733 - - 0.3431 intergenic MUC2;MUC5B Reference - - - - - - - - MUC5B(dist=31511);MUC2(dist=108368) chr11 1215272 1215272 A - 0/30(1.00) 1297 30 hom unknown deletion chr11 rs71025716 - - 0.5368 intergenic MUC2;MUC5B Reference - - - - - - - - MUC2(dist=110856);MUC5B(dist=29023) chr11 1216316 1216316 - C 0/52(1.00) 3070 52 hom unknown insertion chr11 rs147302162 - 0.997415 0.5245 intergenic MUC2;MUC5B Reference - - - - - - - - MUC2(dist=111900);MUC5B(dist=27979) chr11 1216334 1216334 A - 0/54(1.00) 2939 54 hom unknown deletion chr11 rs60138698 - 0.999872 0.5368 intergenic MUC2;MUC5B Reference - - - - - - - - MUC2(dist=111918);MUC5B(dist=27961) chr11 1283962 1283973 TCCTGTCCCGCC - 4/3(0.43) 87 7 het unknown deletion chr11 rs150476350 0.59 - 0.2721 downstream MUC5B Reference - - - - - - - - MUC5B chr11 1472476 1472476 G - 28/32(0.53) 836 60 het unknown deletion chr11 rs3838784 0.44 - 0.3529 intronic BRSK2 Reference - - - - - - - - BRSK2 chr11 1950228 1950229 AG - 33/31(0.48) 1467 64 het unknown deletion chr11 rs199967268 0.06 - 0.0784 intronic TNNT3 Reference - - - - - - - - TNNT3 chr11 1961691 1961692 TC - 1/3(0.75) 114 4 het unknown deletion chr11 rs56135300 - - 0.1446 intergenic TNNT3;MRPL23 Reference - - - - - - - - TNNT3(dist=1755);MRPL23(dist=6810) chr11 2320865 2320865 - G 56/47(0.46) 2460 103 het frameshift insertion chr11 - 0.02 - 0.0588 exonic C11orf21 Reference - - - - - - - - C11orf21,NM_001142946,exon4,c.357dupC,p.T120fs chr11 2321043 2321078 TGCACACACATCCACGTCTGCACACGCATCCACGCC - 3/6(0.67) 233 9 het unknown deletion chr11 - - - 0.0711 intronic C11orf21 Reference - - - - - - - - C11orf21 chr11 2439672 2439672 - C 10/9(0.47) 470 19 het unknown insertion chr11 rs147746598 0.66 - 0.3627 intronic TRPM5 Reference - - - - - - - - TRPM5 chr11 2441686 2441686 - G 0/12(1.00) 674 12 hom unknown insertion chr11 rs35998237 - 0.671862 0.4485 intronic TRPM5 Reference - - - - - - - - TRPM5 chr11 2905204 2905204 - C 32/33(0.51) 931 65 het unknown insertion chr11 - 0.64 0.264087 0.4069 intronic CDKN1C Reference - - - - - - - - CDKN1C chr11 2924850 2924850 - C 0/20(1.00) 1216 20 hom unknown insertion chr11 - - - 0.4338 5-UTR SLC22A18AS Reference - - - - - - - - SLC22A18AS chr11 2940338 2940360 GGCACTTTCCACACCAGGGATAC - 0/10(1.00) 509 10 hom unknown deletion chr11 rs147760984 0.66 - 0.1569 intronic SLC22A18 Reference - - - - - - - - SLC22A18 chr11 3661585 3661585 - TGG 0/124(1.00) 3070 124 hom nonframeshift insertion chr11 rs3062849 - 0.966272 0.6740 exonic ART5 Reference - - - - - - - - ART5,NM_053017,exon2,c.73_74insCCA,p.I25delinsTI;ART5,NM_001079536,exon3,c.73_74insCCA,p.I25delinsTI chr11 3690761 3690762 CT - 3/3(0.50) 108 6 het unknown deletion chr11 rs142924694 0.35 - 0.2304 intronic CHRNA10 Reference - - - - - - - - CHRNA10 chr11 4592708 4592708 - AG 39/27(0.41) 1461 66 het frameshift insertion chr11 - 0.71 - 0.2990 exonic C11orf40 Reference - - - - - - - - C11orf40,NM_144663,exon4,c.598_599insCT,p.C200fs chr11 5013421 5013421 - T 18/25(0.58) 452 43 het unknown insertion chr11 - - - 0.4167 intronic MMP26 Reference - - - - - - - - MMP26 chr11 5269534 5269534 T - 16/22(0.58) 1060 38 het unknown deletion chr11 rs3841756 0.37 - 0.3603 3-UTR HBG1 Reference - - - - - - - - HBG1 chr11 5269581 5269581 - A 0/48(1.00) 2969 48 hom unknown insertion chr11 rs34752752 0.79 - 0.1127 3-UTR HBG1 Reference - - - - - - - - HBG1 chr11 5269586 5269586 A - 0/46(1.00) 2493 46 hom unknown deletion chr11 rs200727286 0.78 - 0.1691 3-UTR HBG1 Reference - - - - - - - - HBG1 chr11 5289896 5289896 - AAAC 0/41(1.00) 2508 41 hom unknown insertion chr11 rs3061750 - - 0.4877 intronic HBE1 Reference - - - - - - - - HBE1 chr11 5510424 5510426 TCT - 48/62(0.56) 3052 110 het nonframeshift deletion chr11 rs35986511 0.33 0.026038 0.4706 exonic OR52D1 Reference - - - - - - - - OR52D1,NM_001005163,exon1,c.488_490del,p.163_164del chr11 5572837 5572837 T - 0/38(1.00) 1655 38 hom unknown deletion chr11 rs11360659 0.82 - 0.3946 intergenic OR52H1;OR52B6 Reference - - - - - - - - OR52H1(dist=6084);OR52B6(dist=29270) chr11 5663921 5663921 T - 0/47(1.00) 1842 47 hom unknown deletion chr11 rs66637086 - - 0.3971 intronic TRIM34;TRIM6-TRIM34 Reference - - - - - - - - TRIM6-TRIM34;TRIM34 chr11 5810105 5810106 TA - 0/4(1.00) 56 4 het unknown deletion chr11 - - - - upstream OR52N1 Reference - - - - - - - - OR52N1 chr11 5810106 5810106 A - 0/4(1.00) 56 4 het unknown deletion chr11 rs61619938 - - 0.4216 upstream OR52N1 Reference - - - - - - - - OR52N1 chr11 5810304 5810304 - TCTGGGG 1/3(0.75) 137 4 het unknown insertion chr11 - - - - upstream OR52N1 Reference - - - - - - - - OR52N1 chr11 6567895 6567895 - TGCCCTACTGCA 0/59(1.00) 3070 59 hom nonframeshift insertion chr11 rs11270441 - 0.992142 0.6495 exonic DNHD1 Reference - - - - - - - - DNHD1,NM_144666,exon21,c.5726_5727insTGCCCTACTGCA,p.A1909delinsAALLH chr11 6630029 6630029 C - 0/219(1.00) 3070 219 hom unknown deletion chr11 rs11314683 - - 0.5221 intronic ILK Reference - - - - - - - - ILK chr11 6662745 6662745 - CAG 21/11(0.34) 556 32 het nonframeshift insertion chr11 - - - 0.2794 exonic DCHS1 Reference - - - - - - - - DCHS1,NM_003737,exon2,c.99_100insCTG,p.G34delinsLG chr11 7060237 7060237 G - 5/8(0.62) 363 13 het unknown deletion chr11 rs11288450 0.68 - 0.3603 intronic NLRP14 Reference - - - - - - - - NLRP14 chr11 7686602 7686602 - TGTT 54/46(0.46) 2504 100 het unknown insertion chr11 rs16411 - 0.430580 0.4461 3-UTR CYB5R2 Reference - - - - - - - - CYB5R2 chr11 7693855 7693855 - CACACA het unknown insertion chr11 - - - 0.0245 intronic CYB5R2 Reference - - - - - - - - CYB5R2 chr11 7693854 7693855 CA - 1/12(0.92) 513 13 het unknown deletion chr11 rs57207415 - - 0.1716 intronic CYB5R2 Reference - - - - - - - - CYB5R2 chr11 7720159 7720159 - T 10/8(0.44) 410 18 het unknown insertion chr11 rs71470493 0.48 - 0.3137 intronic OVCH2 Reference - - - - - - - - OVCH2 chr11 7723172 7723172 A - 14/10(0.42) 440 24 het unknown deletion chr11 rs5789540 - - 0.3333 intronic OVCH2 Reference - - - - - - - - OVCH2 chr11 7818383 7818383 - ATATGGTTACCAGGTAGATGC 68/39(0.36) 2078 107 het nonframeshift insertion chr11 rs138967151 - 0.283103 0.0907 exonic OR5P2 Reference - - - - - - - - OR5P2,NM_153444,exon1,c.106_107insGCATCTACCTGGTAACCATAT,p.S36delinsCIYLVTIS chr11 8123006 8123009 TCTG - 60/47(0.44) 2213 107 het unknown deletion chr11 rs72093838 0.27 0.198962 0.3480 intronic TUB Reference - - - - - - - - TUB chr11 8434973 8434973 A - 19/35(0.65) 824 54 het unknown deletion chr11 rs3833784 - - 0.4069 intronic STK33 Reference - - - - - - - - STK33 chr11 8707032 8707035 TAGA - 22/20(0.48) 938 42 het unknown deletion chr11 - - - 0.0098 ncRNA_exonic SNORA45 Reference - - - - - - - - SNORA45 chr11 8724345 8724345 - G 3/4(0.57) 191 7 het unknown insertion chr11 - 0.55 - 0.3946 intronic ST5 Reference - - - - - - - - ST5 chr11 8732306 8732306 - CA het unknown insertion chr11 - - - - intronic ST5 Reference - - - - - - - - ST5 chr11 8732301 8732306 CACACA - 8/5(0.38) 73 13 het unknown deletion chr11 - - - 0.0417 intronic ST5 Reference - - - - - - - - ST5 chr11 8985916 8985916 - GGCTCA 1/29(0.97) 1491 30 hom unknown insertion chr11 rs3833778 - - 0.2157 5-UTR TMEM9B Reference - - - - - - - - TMEM9B chr11 9090859 9090859 - AGGC 18/19(0.51) 1042 37 het unknown insertion chr11 - - - 0.0319 intronic SCUBE2 Reference - - - - - - - - SCUBE2 chr11 9192337 9192338 AC - 12/6(0.33) 237 18 het unknown deletion chr11 rs10550560 - - 0.1152 intronic DENND5A Reference - - - - - - - - DENND5A chr11 9749553 9749553 T - 4/4(0.50) 122 8 het unknown deletion chr11 rs67364105 - 0.336795 0.1618 intronic SWAP70 Reference - - - - - - - - SWAP70 chr11 9751051 9751051 - T 3/6(0.67) 81 9 het unknown insertion chr11 - - - 0.2230 intronic SWAP70 Reference - - - - - - - - SWAP70 chr11 9806914 9806914 - ACTG 6/13(0.68) 716 19 het unknown insertion chr11 rs71453928 - 0.420745 0.2892 ncRNA_intronic SBF2-AS1 Reference - - - - - - - - SBF2-AS1 chr11 10786023 10786023 - AGTTG 0/18(1.00) 1091 18 hom unknown insertion chr11 rs140973915 0.81 0.512792 0.4093 intronic CTR9 Reference - - - - - - - - CTR9 chr11 10827401 10827402 AC - 18/32(0.64) 1576 50 het unknown deletion chr11 rs150272266 0.13 - 0.1250 intronic EIF4G2 Reference - - - - - - - - EIF4G2 chr11 10828490 10828490 - A 0/16(1.00) 914 16 hom unknown insertion chr11 - 0.99 0.920288 0.3824 intronic EIF4G2 Reference - - - - - - - - EIF4G2 chr11 12024048 12024048 - A 9/6(0.40) 62 15 het unknown insertion chr11 - - - 0.0147 intronic DKK3 Reference - - - - - - - - DKK3 chr11 12517935 12517935 - T 3/13(0.81) 731 16 het unknown insertion chr11 rs11406960 0.18 - 0.1838 intronic PARVA Reference - - - - - - - - PARVA chr11 14101493 14101493 - C 0/68(1.00) 3070 68 hom unknown insertion chr11 rs5789820 - 0.999829 0.5147 exonic SPON1 Reference - - - - - - - - SPON1 chr11 14284207 14284208 AT - 26/28(0.52) 1344 54 het unknown deletion chr11 rs3217362 0.20 - 0.2328 intronic SPON1 Reference - - - - - - - - SPON1 chr11 17035493 17035493 - A 2/4(0.67) 194 6 het unknown insertion chr11 rs71047521 0.84 0.656133 0.2990 intronic PLEKHA7 Reference - - - - - - - - PLEKHA7 chr11 17150775 17150777 CTT - 24/19(0.44) 880 43 het unknown deletion chr11 - - - - intronic PIK3C2A Reference - - - - - - - - PIK3C2A chr11 17351873 17351873 - A 24/17(0.41) 615 41 het unknown insertion chr11 rs74971395 0.47 0.236367 0.3750 intronic NUCB2 Reference - - - - - - - - NUCB2 chr11 17352478 17352480 ACA - 16/12(0.43) 539 28 het nonframeshift deletion chr11 rs3842269 0.46 0.230074 0.3554 exonic NUCB2 Reference - - - - - - - - NUCB2,NM_005013,exon13,c.1203_1205del,p.401_402del chr11 17414778 17414778 G - 3/3(0.50) 82 6 het unknown deletion chr11 rs1799731 0.45 - 0.3431 intronic ABCC8 Reference - - - - - - - - ABCC8 chr11 17548402 17548402 G - 29/27(0.48) 1283 56 het unknown deletion chr11 rs5789990 0.49 0.311821 0.3824 intronic USH1C Reference - - - - - - - - USH1C chr11 17629712 17629712 - T 12/7(0.37) 184 19 het unknown insertion chr11 rs140535394 0.15 - 0.1324 intronic OTOG Reference - - - - - - - - OTOG chr11 18314579 18314579 - TT 0/44(1.00) 1507 44 hom unknown insertion chr11 rs10665418 - - 0.4387 intronic HPS5 Reference - - - - - - - - HPS5 chr11 18330385 18330385 - A 0/33(1.00) 999 33 hom unknown insertion chr11 - - - 0.3775 intronic HPS5 Reference - - - - - - - - HPS5 chr11 18357625 18357629 TTTTG - 5/5(0.50) 206 10 het unknown deletion chr11 rs200088497 0.12 - 0.0931 intronic GTF2H1 Reference - - - - - - - - GTF2H1 chr11 18427387 18427390 AAAC - 1/2(0.67) 61 3 het unknown deletion chr11 rs10562494 0.62 - 0.2426 intronic LDHA Reference - - - - - - - - LDHA chr11 18428637 18428637 - TTTT 31/36(0.54) 490 67 het unknown insertion chr11 - - - 0.2132 intronic LDHA Reference - - - - - - - - LDHA chr11 18478112 18478112 - AG 3/4(0.57) 191 7 het unknown insertion chr11 rs139066591 - - 0.2279 5-UTR LDHAL6A Reference - - - - - - - - LDHAL6A chr11 18586344 18586344 - AT 1/38(0.97) 2295 39 hom unknown insertion chr11 rs3832729 0.70 - 0.3995 intronic UEVLD Reference - - - - - - - - UEVLD chr11 20005846 20005846 C - 10/11(0.52) 388 21 het unknown deletion chr11 rs35295670 0.50 0.144249 0.4020 intronic NAV2 Reference - - - - - - - - NAV2 chr11 20178552 20178552 G - 5/6(0.55) 100 11 het unknown deletion chr11 rs10717537 - - 0.3529 intronic DBX1 Reference - - - - - - - - DBX1 chr11 20639449 20639449 - TAAG 8/11(0.58) 596 19 het unknown insertion chr11 rs149892016 0.40 0.099281 0.3064 intronic SLC6A5 Reference - - - - - - - - SLC6A5 chr11 22214877 22214877 - AGGAGGAGGGGAATGAGGAGGAGG 39/22(0.36) 910 61 het unknown insertion chr11 rs139514865 - - 0.2059 5-UTR ANO5 Reference - - - - - - - - ANO5 chr11 22239622 22239622 T - 3/3(0.50) 41 6 het unknown deletion chr11 rs60388835 0.34 - 0.1765 intronic ANO5 Reference - - - - - - - - ANO5 chr11 26692594 26692594 - TGTGTGTG 1/10(0.91) 526 11 het unknown insertion chr11 - - - 0.0686 3-UTR SLC5A12 Reference - - - - - - - - SLC5A12 chr11 26692594 26692594 - TGTGTGTGTGTGTG 1/10(0.91) 526 11 het unknown insertion chr11 - - - 0.1716 3-UTR SLC5A12 Reference - - - - - - - - SLC5A12 chr11 27078643 27078643 - ATA 6/5(0.45) 242 11 het unknown insertion chr11 rs140671117 0.44 - 0.2941 intronic BBOX1 Reference - - - - - - - - BBOX1 chr11 27384242 27384242 - A 7/6(0.46) 110 13 het unknown insertion chr11 rs75934165 0.46 - 0.3799 intronic CCDC34 Reference - - - - - - - - CCDC34 chr11 27523164 27523164 - GAAGTTAAAATTTCAGGC 2/11(0.85) 477 13 het unknown insertion chr11 rs151336878 0.59 0.668054 0.2892 intronic LIN7C Reference - - - - - - - - LIN7C chr11 30352473 30352473 - AG 9/6(0.40) 293 15 het unknown insertion chr11 rs75725983 - - 0.4534 5-UTR ARL14EP Reference - - - - - - - - ARL14EP chr11 30358033 30358034 CT - 6/2(0.25) 34 8 het unknown deletion chr11 rs149772521 - - 0.3015 intronic ARL14EP Reference - - - - - - - - ARL14EP chr11 30516608 30516609 TG - 2/3(0.60) 111 5 het unknown deletion chr11 rs145753384 0.44 - 0.2255 intronic MPPED2 Reference - - - - - - - - MPPED2 chr11 30601734 30601734 T - 0/26(1.00) 720 26 hom unknown deletion chr11 rs66528013 0.62 - 0.4167 intronic MPPED2 Reference - - - - - - - - MPPED2 chr11 30953284 30953285 GT - 5/10(0.67) 467 15 het unknown deletion chr11 rs145775177 0.09 0.011186 0.0980 intronic DCDC5 Reference - - - - - - - - DCDC5 chr11 31447909 31447909 T - 5/7(0.58) 84 12 het unknown deletion chr11 rs11304707 - 0.275853 0.2475 intronic DNAJC24 Reference - - - - - - - - DNAJC24 chr11 31447934 31447934 A - 3/7(0.70) 90 10 het unknown deletion chr11 rs11304706 - 0.390977 0.2304 intronic DNAJC24 Reference - - - - - - - - DNAJC24 chr11 32450244 32450244 - G 5/3(0.38) 31 8 het unknown insertion chr11 - - - 0.0319 intronic WT1 Reference - - - - - - - - WT1 chr11 32452000 32452001 GG - 5/8(0.62) 221 13 het unknown deletion chr11 - - - 0.0074 intronic WT1 Reference - - - - - - - - WT1 chr11 32615352 32615352 - T 0/43(1.00) 2163 43 hom unknown insertion chr11 - - - 0.2721 intronic EIF3M Reference - - - - - - - - EIF3M chr11 33106908 33106908 - TTTATAG 13/5(0.28) 219 18 het unknown insertion chr11 rs3834432 - - 0.3431 intronic CSTF3 Reference - - - - - - - - CSTF3 chr11 33107692 33107692 - AG 3/5(0.62) 251 8 het unknown insertion chr11 rs79491025 0.62 - 0.2868 intronic CSTF3 Reference - - - - - - - - CSTF3 chr11 33113910 33113910 - T 19/17(0.47) 452 36 het unknown insertion chr11 rs113144162 0.62 0.542732 0.3554 intronic CSTF3 Reference - - - - - - - - CSTF3 chr11 33118530 33118530 C - 1/3(0.75) 114 4 het unknown deletion chr11 rs11363325 0.26 0.356949 0.1912 intronic CSTF3 Reference - - - - - - - - CSTF3 chr11 33360887 33360887 T - 0/64(1.00) 2697 64 hom unknown deletion chr11 rs5790925 - - 0.4632 intronic HIPK3 Reference - - - - - - - - HIPK3 chr11 33581538 33581547 CCACATACTA - 7/7(0.50) 313 14 het unknown deletion chr11 rs142380441 0.33 - 0.2745 intronic KIAA1549L Reference - - - - - - - - KIAA1549L chr11 34093350 34093350 T - 0/29(1.00) 1024 29 hom unknown deletion chr11 rs10718447 - 0.991693 0.4093 intronic CAPRIN1 Reference - - - - - - - - CAPRIN1 chr11 34156021 34156021 - TGTGTTG 48/50(0.51) 2810 98 het unknown insertion chr11 - - - 0.0074 intronic NAT10 Reference - - - - - - - - NAT10 chr11 34673052 34673052 G - 36/44(0.55) 2149 80 het unknown deletion chr11 - 0.46 0.266294 0.3848 intronic EHF Reference - - - - - - - - EHF chr11 34909828 34909828 A - 0/14(1.00) 320 14 hom unknown deletion chr11 - - 0.598496 0.3284 intronic APIP Reference - - - - - - - - APIP chr11 35453797 35453797 C - 0/17(1.00) 716 17 hom unknown deletion chr11 rs11344760 - - 0.4265 3-UTR PAMR1 Reference - - - - - - - - PAMR1 chr11 36518824 36518824 - A 0/59(1.00) 2056 59 hom unknown insertion chr11 rs5030456 0.87 - 0.4314 intronic TRAF6 Reference - - - - - - - - TRAF6 chr11 43413157 43413162 TTTGCG - 4/4(0.50) 137 8 het unknown deletion chr11 - - - - intronic TTC17 Reference - - - - - - - - TTC17 chr11 43413159 43413162 TGCG - 4/4(0.50) 137 8 het unknown deletion chr11 rs67884453 0.91 - 0.3431 intronic TTC17 Reference - - - - - - - - TTC17 chr11 44104701 44104701 - CT 0/79(1.00) 3070 79 hom unknown insertion chr11 rs79395013 - 0.692252 0.5686 intronic ACCS Reference - - - - - - - - ACCS chr11 44193045 44193046 CC - 8/15(0.65) 561 23 het unknown deletion chr11 rs143831885 0.03 - 0.0245 intronic EXT2 Reference - - - - - - - - EXT2 chr11 44257709 44257710 GT - 12/15(0.56) 707 27 het unknown deletion chr11 rs151110171 - - 0.0539 intronic EXT2 Reference - - - - - - - - EXT2 chr11 44972361 44972365 CAGGG - 1/6(0.86) 257 7 het unknown deletion chr11 rs148736914 0.92 - 0.1495 5-UTR TP53I11 Reference - - - - - - - - TP53I11 chr11 45868850 45868850 - G 22/19(0.46) 910 41 het unknown insertion chr11 - - 0.645413 0.3333 intronic CRY2 Reference - - - - - - - - CRY2 chr11 45944994 45944994 - C 12/15(0.56) 823 27 het unknown insertion chr11 rs5791711 0.41 0.809345 0.3676 intronic GYLTL1B Reference - - - - - - - - GYLTL1B chr11 46342082 46342082 G - 0/23(1.00) 942 23 hom unknown deletion chr11 rs67946579 - 0.999916 0.5490 intronic CREB3L1 Reference - - - - - - - - CREB3L1 chr11 46342259 46342259 - G 0/89(1.00) 3070 89 hom splicing insertion chr11 rs79068197 - - 0.5343 splicing CREB3L1 Reference - - - - - - - - CREB3L1(NM_052854,exon12,c.1524-1->G) chr11 46694314 46694315 TC - 0/17(1.00) 896 17 hom unknown deletion chr11 rs67065551 - 0.997829 0.4412 3-UTR ATG13 Reference - - - - - - - - ATG13 chr11 46724717 46724728 AGTGGTGACAGA - 0/18(1.00) 937 18 hom nonframeshift deletion chr11 rs148055528 0.57 0.114377 0.4706 exonic ZNF408 Reference - - - - - - - - ZNF408,NM_001184751,exon4,c.552_563del,p.184_188del;ZNF408,NM_024741,exon4,c.576_587del,p.192_196del chr11 47317626 47317630 AAAAG - 0/39(1.00) 2111 39 hom unknown deletion chr11 rs139551169 0.58 0.118051 0.4510 intronic MADD Reference - - - - - - - - MADD chr11 47371485 47371485 G - 16/15(0.48) 509 31 het unknown deletion chr11 rs11570050 0.64 0.620383 0.4926 intronic MYBPC3 Reference - - - - - - - - MYBPC3 chr11 47380276 47380276 - CA 22/23(0.51) 1197 45 het unknown insertion chr11 rs35282035 - - 0.2794 intronic SPI1 Reference - - - - - - - - SPI1 chr11 47462838 47462838 G - 0/31(1.00) 981 31 hom unknown deletion chr11 rs10716680 - 0.999680 0.4730 intronic RAPSN Reference - - - - - - - - RAPSN chr11 47587578 47587578 C - 0/23(1.00) 837 23 hom unknown deletion chr11 rs58926533 - - 0.5025 intronic PTPMT1 Reference - - - - - - - - PTPMT1 chr11 47786926 47786926 - AAAAGAAAAGAAAAG 6/9(0.60) 482 15 het unknown insertion chr11 - - - 0.0147 intronic FNBP4 Reference - - - - - - - - FNBP4 chr11 47830221 47830222 GG - 4/3(0.43) 79 7 het unknown deletion chr11 - - - - intronic NUP160 Reference - - - - - - - - NUP160 chr11 48184972 48184975 CTTT - 0/91(1.00) 3070 91 hom unknown deletion chr11 rs3830431 0.43 0.414519 0.3995 intronic PTPRJ Reference - - - - - - - - PTPRJ chr11 48285982 48285984 CTT - 0/197(1.00) 3070 197 hom nonframeshift deletion chr11 rs76884411 0.60 0.691534 0.6127 exonic OR4X1 Reference - - - - - - - - OR4X1,NM_001004726,exon1,c.570_572del,p.190_191del chr11 48346661 48346669 TTGCTGATC - 115/45(0.28) 1978 160 het nonframeshift deletion chr11 rs138704181 - - 0.3897 exonic OR4C3 Reference - - - - - - - - OR4C3,NM_001004702,exon1,c.169_177del,p.57_59del chr11 48367050 48367050 - AG 140/58(0.29) 3012 198 het unknown insertion chr11 rs113897236 - 0.482852 0.4632 exonic OR4C45 Reference - - - - - - - - OR4C45 chr11 48374000 48374000 - T 20/8(0.29) 239 28 het unknown insertion chr11 - - - 0.3431 upstream OR4C45 Reference - - - - - - - - OR4C45 chr11 48386956 48386956 - A 8/6(0.43) 296 14 het unknown insertion chr11 - - - 0.3505 intergenic OR4C45;OR4A47 Reference - - - - - - - - OR4C45(dist=12957);OR4A47(dist=123389) chr11 49077890 49077890 T - 0/76(1.00) 2187 76 hom unknown deletion chr11 rs36015501 0.57 - 0.3676 intronic TRIM64C Reference - - - - - - - - TRIM64C chr11 49229489 49229492 AAAC - 15/16(0.52) 750 31 het unknown deletion chr11 - - - 0.0735 intronic FOLH1 Reference - - - - - - - - FOLH1 chr11 49857331 49857331 - A 9/7(0.44) 32 16 het unknown insertion chr11 - - - 0.2868 intergenic LOC440040;OR4C13 Reference - - - - - - - - OR4C13(dist=116612);LOC440040(dist=25362) chr11 50379454 50379454 - TTGTT 8/11(0.58) 596 19 het unknown insertion chr11 rs145113958 - - 0.3015 ncRNA_exonic LOC646813 Reference - - - - - - - - LOC646813 chr11 55035809 55035809 - T 42/28(0.40) 306 70 het unknown insertion chr11 - - - 0.0637 intronic TRIM48 Reference - - - - - - - - TRIM48 chr11 55762167 55762167 C - 1/3(0.75) 105 4 het unknown deletion chr11 - - - 0.0123 upstream OR5F1 Reference - - - - - - - - OR5F1 chr11 56128673 56128673 - T 21/15(0.42) 621 36 het frameshift insertion chr11 rs34649252 0.07 0.073837 0.0735 exonic OR8J1 Reference - - - - - - - - OR8J1,NM_001005205,exon1,c.952dupT,p.X317delinsX chr11 57135663 57135663 - G 0/11(1.00) 579 11 hom unknown insertion chr11 rs78580111 - - 0.4461 intronic P2RX3 Reference - - - - - - - - P2RX3 chr11 57137538 57137538 - G 0/22(1.00) 1049 22 hom unknown insertion chr11 rs74770235 - - 0.4436 3-UTR P2RX3 Reference - - - - - - - - P2RX3 chr11 57461226 57461227 TC - 14/3(0.18) 75 17 het unknown deletion chr11 rs141993890 - - 0.0662 intronic ZDHHC5 Reference - - - - - - - - ZDHHC5 chr11 57799109 57799109 C - 75/60(0.44) 2868 135 het frameshift deletion chr11 rs34846253 0.03 0.179393 0.0539 exonic OR6Q1 Reference - - - - - - - - OR6Q1,NM_001005186,exon1,c.685delC,p.L229fs chr11 58295749 58295750 CA - 5/2(0.29) 50 7 het unknown deletion chr11 rs35632700 0.66 - 0.3456 intronic LPXN Reference - - - - - - - - LPXN chr11 58380192 58380192 - T 5/7(0.58) 60 12 het unknown insertion chr11 - - 0.581602 0.3382 ncRNA_intronic ZFP91-CNTF Reference - - - - - - - - ZFP91-CNTF chr11 58492074 58492074 T - 7/7(0.50) 39 14 het unknown deletion chr11 - - - 0.0466 intronic GLYAT Reference - - - - - - - - GLYAT chr11 60165353 60165354 TT - 98/90(0.48) 3070 188 het frameshift deletion chr11 rs3217518 0.60 0.591933 0.5980 exonic MS4A14 Reference - - - - - - - - MS4A14,NM_001079692,exon2,c.167_168del,p.56_56del;MS4A14,NM_001261828,exon2,c.167_168del,p.56_56del;MS4A14,NM_001261827,exon2,c.167_168del,p.56_56del;MS4A14,NM_032597,exon2,c.167_168del,p.56_56del chr11 60234643 60234643 - A 18/14(0.44) 172 32 het unknown insertion chr11 - - - - intronic MS4A1 Reference - - - - - - - - MS4A1 chr11 60567526 60567530 CTGGG - 1/3(0.75) 113 4 het unknown deletion chr11 rs71997819 0.82 - 0.3407 3-UTR MS4A10 Reference - - - - - - - - MS4A10 chr11 60778650 60778650 - GTGTGTGTGT 0/8(1.00) 412 8 het unknown insertion chr11 rs150035626 - - 0.0319 intronic CD6 Reference - - - - - - - - CD6 chr11 60778650 60778650 - GTGTGTGTGTGT 0/8(1.00) 412 8 het unknown insertion chr11 - - - 0.0098 intronic CD6 Reference - - - - - - - - CD6 chr11 60778650 60778650 - GTGTGTGTGTGTGT 0/8(1.00) 412 8 het unknown insertion chr11 - - - 0.2451 intronic CD6 Reference - - - - - - - - CD6 chr11 61114010 61114028 TCACTGCTGTGCTGAGGTG - 6/7(0.54) 307 13 het unknown deletion chr11 rs139930374 - - 0.2328 3-UTR DAK Reference - - - - - - - - DAK chr11 61165731 61165731 - A 0/94(1.00) 3070 94 hom splicing insertion chr11 rs11382548 0.97 0.827907 0.4853 splicing TMEM216 Reference - - - - - - - - TMEM216(NM_001173991,exon5,c.432-2->A;NM_016499,exon5,c.249-2->A) chr11 61546701 61546714 TGGCCCATGGCCCA - 27/20(0.43) 925 47 het unknown deletion chr11 - - - - intronic MYRF Reference - - - - - - - - MYRF chr11 61725599 61725599 - TCCTCCTCC 0/42(1.00) 2602 42 hom unknown insertion chr11 rs113492158 0.99 - 0.4804 intronic BEST1 Reference - - - - - - - - BEST1 chr11 61960763 61960763 - C 0/35(1.00) 2161 35 hom unknown insertion chr11 rs11441356 0.81 - 0.3971 intronic SCGB1D1 Reference - - - - - - - - SCGB1D1 chr11 62159187 62159187 - A 6/8(0.57) 422 14 het unknown insertion chr11 rs3832779 0.27 - 0.3039 intronic ASRGL1 Reference - - - - - - - - ASRGL1 chr11 62381703 62381703 - T 56/30(0.35) 1590 86 het unknown insertion chr11 rs35904570 0.05 0.226597 0.0613 intronic ROM1 Reference - - - - - - - - ROM1 chr11 62383715 62383715 G - 30/13(0.30) 506 43 het unknown deletion chr11 - - - 0.0417 intronic B3GAT3 Reference - - - - - - - - B3GAT3 chr11 62488916 62488916 - G 17/18(0.51) 935 35 het unknown insertion chr11 - 0.77 - 0.4093 ncRNA_intronic HNRNPUL2-BSCL2 Reference - - - - - - - - HNRNPUL2-BSCL2 chr11 62569105 62569105 - AC 45/48(0.52) 2703 93 het splicing insertion chr11 rs146787397 0.14 0.086741 0.1936 splicing NXF1 Reference - - - - - - - - NM_001081491,exon8,c.640-2->GT);NXF1(NM_006362,exon8,c.640-2->GT chr11 63177242 63177242 - T 0/109(1.00) 3070 109 hom unknown insertion chr11 rs78795943 0.83 - 0.4902 ncRNA_intronic MIR3680-1;MIR3680-2 Reference - - - - - - - - MIR3680-1;MIR3680-2 chr11 63278714 63278714 - GCCAGGCAGCTTATGCC 4/6(0.60) 236 10 het unknown insertion chr11 rs139803938 0.24 - 0.2255 ncRNA_intronic MIR3680-1;MIR3680-2 Reference - - - - - - - - MIR3680-1;MIR3680-2 chr11 63402869 63402869 - A 1/30(0.97) 756 31 hom unknown insertion chr11 rs34436983 - - 0.3775 intronic ATL3 Reference - - - - - - - - ATL3 chr11 63676313 63676313 - C 0/16(1.00) 527 16 hom unknown insertion chr11 rs146883728 - 0.422077 0.4510 intronic MARK2 Reference - - - - - - - - MARK2 chr11 63990997 63990997 C - 9/8(0.47) 266 17 het unknown deletion chr11 rs5792315 0.39 0.533410 0.3652 3-UTR FERMT3 Reference - - - - - - - - FERMT3 chr11 63997883 63997883 T - 5/58(0.92) 710 63 hom unknown deletion chr11 rs11311686 - - 0.3431 intronic DNAJC4 Reference - - - - - - - - DNAJC4 chr11 64088593 64088611 TGTGGGAGAGAGTCCTCTG - 1/4(0.80) 164 5 het unknown deletion chr11 rs138194541 - 0.115354 0.0392 intronic PRDX5 Reference - - - - - - - - PRDX5 chr11 64110955 64110955 G - 72/74(0.51) 3070 146 het unknown deletion chr11 rs61354326 0.51 0.188123 0.3897 intronic CCDC88B Reference - - - - - - - - CCDC88B chr11 64543927 64543927 - T 0/40(1.00) 2476 40 hom unknown insertion chr11 rs34514973 0.38 0.114058 0.3186 intronic SF1 Reference - - - - - - - - SF1 chr11 64694509 64694509 - C 2/3(0.60) 66 5 het unknown insertion chr11 rs77601670 0.44 - 0.2819 intronic PPP2R5B Reference - - - - - - - - PPP2R5B chr11 64851454 64851454 T - 0/72(1.00) 3070 72 hom unknown deletion chr11 rs35819335 0.91 0.896658 0.4289 5-UTR CDCA5 Reference - - - - - - - - CDCA5 chr11 64898357 64898357 - C 0/86(1.00) 3070 86 hom unknown insertion chr11 rs11369296 - - 0.5147 intronic SYVN1 Reference - - - - - - - - SYVN1 chr11 64954882 64954882 C - 8/4(0.33) 110 12 het unknown deletion chr11 rs3832790 0.24 - 0.2451 intronic CAPN1 Reference - - - - - - - - CAPN1 chr11 64993195 64993195 - AGTA 0/45(1.00) 2789 45 hom unknown insertion chr11 rs10633296 0.91 - 0.4657 3-UTR SLC22A20 Reference - - - - - - - - SLC22A20 chr11 65143702 65143702 T - 9/9(0.50) 403 18 het unknown deletion chr11 rs80042162 0.18 - 0.2230 3-UTR SLC25A45 Reference - - - - - - - - SLC25A45 chr11 65273569 65273569 A - 11/13(0.54) 83 24 het unknown deletion chr11 rs11367099 - - 0.2402 ncRNA_exonic MALAT1 Reference - - - - - - - - MALAT1 chr11 65314815 65314815 G - 2/8(0.80) 247 10 het unknown deletion chr11 rs66973976 0.52 - 0.2843 intronic LTBP3 Reference - - - - - - - - LTBP3 chr11 65617114 65617114 G - 0/61(1.00) 2410 61 hom unknown deletion chr11 rs11327250 - - 0.4510 intronic SNX32 Reference - - - - - - - - SNX32 chr11 65637730 65637736 GGAGGGC - 11/4(0.27) 137 15 het unknown deletion chr11 rs149021732 0.06 - 0.1397 intronic EFEMP2 Reference - - - - - - - - EFEMP2 chr11 65647797 65647797 T - 27/18(0.40) 116 45 het unknown deletion chr11 rs201535604 - - 0.2279 intronic CTSW Reference - - - - - - - - CTSW chr11 65655259 65655259 - CC 54/36(0.40) 1841 90 het unknown insertion chr11 rs34462984 - - 0.4240 intronic FIBP Reference - - - - - - - - FIBP chr11 65771051 65771057 CACTGAG - 0/21(1.00) 1094 21 hom unknown deletion chr11 rs147010511 0.54 0.385403 0.4485 intronic BANF1 Reference - - - - - - - - BANF1 chr11 66003583 66003583 - GGGTACCCAGT 5/3(0.38) 123 8 het unknown insertion chr11 rs141812648 0.25 - 0.2010 intronic PACS1 Reference - - - - - - - - PACS1 chr11 66043743 66043745 CTT - 16/23(0.59) 1112 39 het unknown deletion chr11 rs3831389 0.28 0.161748 0.2377 3-UTR RAB1B Reference - - - - - - - - RAB1B chr11 66109527 66109527 - TGTGTG 34/5(0.13) 70 39 het unknown insertion chr11 rs112182142 - 0.364457 0.3382 intronic BRMS1 Reference - - - - - - - - BRMS1 chr11 66109527 66109527 - TGTGTGTG 34/5(0.13) 70 39 het unknown insertion chr11 - - - 0.0098 intronic BRMS1 Reference - - - - - - - - BRMS1 chr11 66395985 66395985 - TAA 2/3(0.60) 134 5 het unknown insertion chr11 rs10667137 0.41 - 0.3162 3-UTR RBM14 Reference - - - - - - - - RBM14 chr11 66512290 66512290 - GGC 4/3(0.43) 128 7 het nonframeshift insertion chr11 - - 0.352484 0.1520 exonic C11orf80 Reference - - - - - - - - C11orf80,NM_024650,exon1,c.77_78insGGC,p.G26delinsGA chr11 67017445 67017445 - A 0/31(1.00) 1909 31 hom unknown insertion chr11 - - - 0.4583 intronic KDM2A Reference - - - - - - - - KDM2A chr11 67262282 67262282 - GA 2/26(0.93) 1512 28 het unknown insertion chr11 rs202207490 0.29 - 0.3015 intronic PITPNM1 Reference - - - - - - - - PITPNM1 chr11 67262289 67262289 - CGAGAGGA 0/36(1.00) 2181 36 hom unknown insertion chr11 - - 0.323642 0.0270 intronic PITPNM1 Reference - - - - - - - - PITPNM1 chr11 67351529 67351529 - G 5/3(0.38) 43 8 het unknown insertion chr11 - 0.68 0.421746 0.2377 intronic GSTP1 Reference - - - - - - - - GSTP1 chr11 67412203 67412203 - CA 2/2(0.50) 74 4 het unknown insertion chr11 - - - 0.2598 intronic ACY3 Reference - - - - - - - - ACY3 chr11 67433708 67433708 - G 0/75(1.00) 3070 75 hom unknown insertion chr11 rs5792424 - 0.846652 0.4436 intronic ALDH3B2 Reference - - - - - - - - ALDH3B2 chr11 67765163 67765163 - G 0/26(1.00) 1594 26 hom unknown insertion chr11 rs5792426 - 0.999754 0.5294 exonic UNC93B1 Reference - - - - - - - - UNC93B1 chr11 67786064 67786064 - C 0/47(1.00) 2917 47 hom unknown insertion chr11 rs72516079 - 0.999570 0.5490 exonic ALDH3B1 Reference - - - - - - - - ALDH3B1 chr11 67789293 67789293 - C 0/71(1.00) 3070 71 hom unknown insertion chr11 rs78732492 - - 0.5784 exonic ALDH3B1 Reference - - - - - - - - ALDH3B1 chr11 67790006 67790006 - C 0/12(1.00) 635 12 hom unknown insertion chr11 - - - 0.4975 intronic ALDH3B1 Reference - - - - - - - - ALDH3B1 chr11 67795378 67795378 - C 0/74(1.00) 3070 74 hom unknown insertion chr11 rs11436139 - 0.999592 0.5613 exonic ALDH3B1 Reference - - - - - - - - ALDH3B1 chr11 68080214 68080214 - GCT 4/3(0.43) 128 7 het nonframeshift insertion chr11 - - - - exonic LRP5 Reference - - - - - - - - LRP5,NM_002335,exon1,c.32_33insGCT,p.P11delinsPL chr11 68305521 68305521 - T 0/12(1.00) 713 12 hom unknown insertion chr11 rs11403965 0.77 - 0.3701 intronic PPP6R3 Reference - - - - - - - - PPP6R3 chr11 68380515 68380515 - CTGT 37/45(0.55) 2528 82 het unknown insertion chr11 - - - - intronic PPP6R3 Reference - - - - - - - - PPP6R3 chr11 68566648 68566648 - C 0/26(1.00) 1594 26 hom unknown insertion chr11 rs111436340 - - 0.3627 intronic CPT1A Reference - - - - - - - - CPT1A chr11 69949136 69949137 CC - 0/21(1.00) 650 21 hom unknown deletion chr11 rs55698329 0.53 0.737191 0.4020 intronic ANO1 Reference - - - - - - - - ANO1 chr11 69949370 69949370 - A 3/5(0.62) 57 8 het unknown insertion chr11 - - - 0.1593 intronic ANO1 Reference - - - - - - - - ANO1 chr11 70002186 70002186 T - 16/12(0.43) 187 28 het unknown deletion chr11 rs34657087 - - 0.3799 intronic ANO1 Reference - - - - - - - - ANO1 chr11 70016945 70016945 T - 25/29(0.54) 1399 54 het unknown deletion chr11 rs3842255 0.50 0.291729 0.4240 intronic ANO1 Reference - - - - - - - - ANO1 chr11 70507656 70507661 ACACAA - 28/3(0.10) 63 31 het unknown deletion chr11 - - - - intronic SHANK2 Reference - - - - - - - - SHANK2 chr11 70798896 70798896 G - 32/21(0.40) 494 53 het unknown deletion chr11 rs35132270 0.27 - 0.2108 intronic SHANK2 Reference - - - - - - - - SHANK2 chr11 71146249 71146260 AGCAAGGAACAG - 2/78(0.97) 3070 80 hom unknown deletion chr11 rs141483210 0.38 - 0.2770 3-UTR DHCR7 Reference - - - - - - - - DHCR7 chr11 71238649 71238675 CTGCTGCTCCTCAGGCTGTGGGTCATC - 26/34(0.57) 1651 60 het nonframeshift deletion chr11 - - - 0.0564 exonic KRTAP5-7 Reference - - - - - - - - KRTAP5-7,NM_001012503,exon1,c.303_329del,p.101_110del chr11 71668363 71668363 T - 0/27(1.00) 1214 27 hom unknown deletion chr11 rs3216157 0.84 0.932428 0.4632 intronic RNF121 Reference - - - - - - - - RNF121 chr11 71710836 71710836 - C 3/3(0.50) 49 6 het unknown insertion chr11 - - - 0.0147 5-UTR IL18BP Reference - - - - - - - - IL18BP chr11 71712989 71712992 CTGC - 17/11(0.39) 484 28 het unknown deletion chr11 - - - 0.0147 3-UTR IL18BP Reference - - - - - - - - IL18BP chr11 71728543 71728543 - A 0/23(1.00) 520 23 hom unknown insertion chr11 rs34393610 - - 0.3652 ncRNA_exonic LOC100128494 Reference - - - - - - - - LOC100128494 chr11 71728909 71728914 GTCAAC - 0/11(1.00) 565 11 hom unknown deletion chr11 rs11278712 0.74 - 0.4853 ncRNA_exonic LOC100128494 Reference - - - - - - - - LOC100128494 chr11 71740378 71740378 - AC 0/62(1.00) 3070 62 hom unknown insertion chr11 rs35948003 0.75 0.876438 0.4191 intronic NUMA1 Reference - - - - - - - - NUMA1 chr11 72288651 72288651 G - 5/7(0.58) 181 12 het unknown deletion chr11 rs3842266 - 0.572045 0.4583 intronic PDE2A Reference - - - - - - - - PDE2A chr11 72292353 72292353 - A 0/52(1.00) 3070 52 hom unknown insertion chr11 rs75787002 - 0.982982 0.5466 intronic PDE2A Reference - - - - - - - - PDE2A chr11 72554407 72554407 - GGG 96/67(0.41) 3070 163 het unknown insertion chr11 rs3217361 0.17 0.241613 0.1642 intronic FCHSD2 Reference - - - - - - - - FCHSD2 chr11 73390773 73390774 AA - 1/37(0.97) 1547 38 hom unknown deletion chr11 rs71469461 0.58 0.473962 0.4926 intronic RAB6A Reference - - - - - - - - RAB6A chr11 74988021 74988021 - TCCCC 0/24(1.00) 1466 24 hom unknown insertion chr11 rs34053901 - 0.275204 0.1667 intronic ARRB1 Reference - - - - - - - - ARRB1 chr11 76414250 76414250 T - 2/8(0.80) 287 10 het unknown deletion chr11 rs80176488 0.20 - 0.1520 ncRNA_intronic GUCY2EP Reference - - - - - - - - GUCY2EP chr11 76751542 76751542 T - 0/35(1.00) 1574 35 hom splicing deletion chr11 rs11292198 - - 0.4387 splicing B3GNT6 Reference - - - - - - - - NM_138706,exon3,c.947-1T>-) chr11 76751585 76751585 T - 0/40(1.00) 2166 40 hom unknown deletion chr11 rs11292199 - 0.999103 0.4730 exonic B3GNT6 Reference - - - - - - - - B3GNT6 chr11 76751604 76751604 T - 0/42(1.00) 1913 42 hom splicing deletion chr11 rs11292200 - 0.999917 0.5025 splicing B3GNT6 Reference - - - - - - - - NM_138706,exon4,c.1008-1T>-) chr11 76893280 76893280 - G 0/13(1.00) 776 13 hom unknown insertion chr11 rs76371237 - - 0.4657 intronic MYO7A Reference - - - - - - - - MYO7A chr11 76954788 76954788 - A 30/14(0.32) 709 44 het frameshift insertion chr11 - 0.23 0.270927 0.2623 exonic GDPD4 Reference - - - - - - - - GDPD4,NM_182833,exon12,c.1191dupT,p.I398fs chr11 77035795 77035795 - AC 1/4(0.80) 172 5 het unknown insertion chr11 rs142981945 - - 0.1618 intronic PAK1 Reference - - - - - - - - PAK1 chr11 77824907 77824907 - AAAA 2/14(0.88) 108 16 hom unknown insertion chr11 - - - 0.0466 ncRNA_intronic RNU6-83P Reference - - - - - - - - RNU6-83P chr11 77838374 77838374 A - 0/13(1.00) 216 13 hom unknown deletion chr11 rs59662312 - - 0.3358 intronic ALG8 Reference - - - - - - - - ALG8 chr11 77924657 77924662 TCTAAG - 0/41(1.00) 2192 41 hom unknown deletion chr11 rs72075084 - 0.150094 0.3333 intronic USP35 Reference - - - - - - - - USP35 chr11 78807972 78807977 CGCACA - 4/2(0.33) 53 6 het unknown deletion chr11 - - - - intronic TENM4 Reference - - - - - - - - TENM4 chr11 82984770 82984770 - A 12/9(0.43) 149 21 het unknown insertion chr11 rs146002262 0.06 - 0.0294 intronic CCDC90B Reference - - - - - - - - CCDC90B chr11 83585319 83585322 GGGA - 3/4(0.57) 160 7 het unknown deletion chr11 - - - 0.2574 intronic DLG2 Reference - - - - - - - - DLG2 chr11 85418592 85418595 ACAG - 0/40(1.00) 2166 40 hom unknown deletion chr11 rs3069561 0.58 0.564398 0.3701 intronic SYTL2 Reference - - - - - - - - SYTL2 chr11 85435001 85435001 - A 0/11(1.00) 304 11 hom unknown insertion chr11 rs34653849 0.58 - 0.3064 intronic SYTL2 Reference - - - - - - - - SYTL2 chr11 88045815 88045815 - T 0/14(1.00) 748 14 hom unknown insertion chr11 rs11426721 - - 0.4289 intronic CTSC Reference - - - - - - - - CTSC chr11 89224131 89224131 - CTC 46/38(0.45) 2100 84 het unknown insertion chr11 rs142894586 - - 0.2279 intronic NOX4 Reference - - - - - - - - NOX4 chr11 89224229 89224229 - T 34/26(0.43) 1417 60 het unknown insertion chr11 - 0.37 - 0.2402 intronic NOX4 Reference - - - - - - - - NOX4 chr11 89395304 89395304 T - 0/39(1.00) 735 39 hom unknown deletion chr11 rs66536560 - - 0.3456 intronic FOLH1B Reference - - - - - - - - FOLH1B chr11 89909096 89909096 - TG 15/10(0.40) 514 25 het unknown insertion chr11 - - 0.128195 0.0147 intronic NAALAD2 Reference - - - - - - - - NAALAD2 chr11 89938616 89938617 AG - 6/5(0.45) 203 11 het unknown deletion chr11 rs36109540 0.60 0.394102 0.2966 intronic CHORDC1 Reference - - - - - - - - CHORDC1 chr11 89943548 89943548 - CAGA 14/7(0.33) 337 21 het unknown insertion chr11 rs150562845 0.72 - 0.3284 intronic CHORDC1 Reference - - - - - - - - CHORDC1 chr11 89951368 89951368 A - 15/21(0.58) 217 36 het unknown deletion chr11 rs34787918 - - 0.3456 intronic CHORDC1 Reference - - - - - - - - CHORDC1 chr11 93454834 93454835 GT - 2/7(0.78) 90 9 het unknown deletion chr11 - - - - ncRNA_exonic SCARNA9 Reference - - - - - - - - SCARNA9 chr11 93454832 93454835 GTGT - 2/7(0.78) 90 9 het unknown deletion chr11 rs59894789 - - 0.1863 ncRNA_exonic SCARNA9 Reference - - - - - - - - SCARNA9 chr11 93527283 93527283 A - 0/17(1.00) 582 17 hom unknown deletion chr11 rs5793656 - - 0.3652 intronic MED17 Reference - - - - - - - - MED17 chr11 94587076 94587076 T - 19/15(0.44) 410 34 het unknown deletion chr11 rs142006061 0.05 0.026620 0.0539 intronic AMOTL1 Reference - - - - - - - - AMOTL1 chr11 94699507 94699507 - T 0/17(1.00) 1028 17 hom unknown insertion chr11 rs34805065 - - 0.4265 exonic CWC15 Reference - - - - - - - - CWC15 chr11 94800902 94800902 - C 0/213(1.00) 3070 213 hom unknown insertion chr11 rs11410745 - 0.999832 0.5564 exonic SRSF8 Reference - - - - - - - - SRSF8 chr11 94924774 94924774 - A 10/12(0.55) 273 22 het unknown insertion chr11 rs150790532 0.34 0.039058 0.3015 intronic SESN3 Reference - - - - - - - - SESN3 chr11 95825375 95825383 TGCTGCTGC - 2/13(0.87) 621 15 het nonframeshift deletion chr11 rs141671766 - - 0.5123 exonic MAML2 Reference - - - - - - - - MAML2,NM_032427,exon2,c.1812_1820del,p.604_607del chr11 96123734 96123734 - G 4/4(0.50) 188 8 het unknown insertion chr11 rs5793803 0.24 - 0.2941 5-UTR JRKL Reference - - - - - - - - JRKL chr11 100061827 100061827 - AA 23/8(0.26) 90 31 het unknown insertion chr11 - - 0.300835 0.2108 intronic CNTN5 Reference - - - - - - - - CNTN5 chr11 100168320 100168320 - C 0/66(1.00) 3070 66 hom unknown insertion chr11 rs75986029 - 0.850497 0.4485 intronic CNTN5 Reference - - - - - - - - CNTN5 chr11 100847830 100847830 A - 2/6(0.75) 267 8 het unknown deletion chr11 rs3216738 0.67 - 0.3554 intronic ARHGAP42 Reference - - - - - - - - ARHGAP42 chr11 100999838 100999838 - G 0/19(1.00) 1093 19 hom unknown insertion chr11 rs11437764 - 0.998001 0.4314 ncRNA_exonic LOC101054525 Reference - - - - - - - - LOC101054525 chr11 101982041 101982041 - GGA 0/15(1.00) 902 15 hom unknown insertion chr11 rs34558896 0.75 - 0.2304 intronic YAP1 Reference - - - - - - - - YAP1 chr11 102592053 102592053 - TGTG het unknown insertion chr11 - - - - intronic MMP8 Reference - - - - - - - - MMP8 chr11 102592050 102592053 TGTG - 0/17(1.00) 444 17 het unknown deletion chr11 rs72369292 - - 0.0441 intronic MMP8 Reference - - - - - - - - MMP8 chr11 102642716 102642716 - T 0/46(1.00) 2854 46 hom unknown insertion chr11 rs17860997 0.91 0.948083 0.4510 intronic MMP10 Reference - - - - - - - - MMP10 chr11 102737277 102737283 TTTCCAT - 26/16(0.38) 719 42 het unknown deletion chr11 rs145887823 0.04 - 0.0784 intronic MMP12 Reference - - - - - - - - MMP12 chr11 102737945 102737945 A - 8/7(0.47) 120 15 het unknown deletion chr11 rs56198231 0.36 - 0.2377 intronic MMP12 Reference - - - - - - - - MMP12 chr11 102738793 102738793 - T 1/73(0.99) 3070 74 hom unknown insertion chr11 rs5794199 - - 0.4853 exonic MMP12 Reference - - - - - - - - MMP12 chr11 102745470 102745473 CAAA - 8/4(0.33) 145 12 het unknown deletion chr11 rs28360358 - - 0.1838 intronic MMP12 Reference - - - - - - - - MMP12 chr11 103086399 103086399 - TA 0/20(1.00) 1165 20 hom unknown insertion chr11 rs199759217 0.87 0.930536 0.3211 intronic DYNC2H1 Reference - - - - - - - - DYNC2H1 chr11 103112359 103112359 T - 14/8(0.36) 336 22 het unknown deletion chr11 rs58174873 0.24 0.098655 0.1789 intronic DYNC2H1 Reference - - - - - - - - DYNC2H1 chr11 103870762 103870762 T - 19/7(0.27) 113 26 het unknown deletion chr11 rs3839944 0.11 0.182668 0.1029 intronic PDGFD Reference - - - - - - - - PDGFD chr11 104819542 104819542 - AAAC 1/7(0.88) 372 8 het unknown insertion chr11 - - - 0.2941 intronic CASP4 Reference - - - - - - - - CASP4 chr11 104819544 104819544 - AC 1/4(0.80) 126 5 het unknown insertion chr11 - - - - intronic CASP4 Reference - - - - - - - - CASP4 chr11 104819544 104819544 - ACAC 1/4(0.80) 126 5 het unknown insertion chr11 - - - 0.2598 intronic CASP4 Reference - - - - - - - - CASP4 chr11 107313608 107313608 - AGGAAGGA 0/38(1.00) 2272 38 hom unknown insertion chr11 - - - 0.3064 intronic CWF19L2 Reference - - - - - - - - CWF19L2 chr11 107663632 107663639 TTTCTTTC - 3/6(0.67) 261 9 het unknown deletion chr11 rs148577551 - - 0.0931 intronic SLC35F2 Reference - - - - - - - - SLC35F2 chr11 107677399 107677399 - A 0/135(1.00) 3070 135 hom unknown insertion chr11 - 0.64 0.632264 0.4828 intronic SLC35F2 Reference - - - - - - - - SLC35F2 chr11 108098460 108098461 AA - 0/32(1.00) 1447 32 hom unknown deletion chr11 rs2066734 0.40 0.335730 0.3088 intronic ATM Reference - - - - - - - - ATM chr11 108151707 108151707 - A 0/15(1.00) 829 15 hom unknown insertion chr11 rs148973142 - 0.556652 0.3162 intronic ATM Reference - - - - - - - - ATM chr11 108196713 108196715 ATT - 0/14(1.00) 730 14 hom unknown deletion chr11 rs4988105 0.42 - 0.2990 intronic ATM Reference - - - - - - - - ATM chr11 108345515 108345515 - A 0/17(1.00) 1028 17 hom unknown insertion chr11 - 0.48 0.420194 0.3456 3-UTR KDELC2 Reference - - - - - - - - KDELC2 chr11 109964089 109964089 - G 0/14(1.00) 839 14 hom unknown insertion chr11 rs11395531 - 0.997800 0.2549 5-UTR ZC3H12C Reference - - - - - - - - ZC3H12C chr11 110306748 110306748 - T 15/10(0.40) 105 25 het unknown insertion chr11 rs35520653 - - 0.2402 intronic FDX1 Reference - - - - - - - - FDX1 chr11 110479839 110479839 - TT 7/9(0.56) 88 16 het unknown insertion chr11 - - - 0.0294 intronic ARHGAP20 Reference - - - - - - - - ARHGAP20 chr11 111152264 111152265 CT - 11/12(0.52) 553 23 het unknown deletion chr11 rs5794734 0.42 0.228231 0.2917 intronic C11orf53 Reference - - - - - - - - C11orf53 chr11 111229421 111229421 - CT 9/3(0.25) 113 12 het unknown insertion chr11 rs145613971 - - 0.2966 intronic POU2AF1 Reference - - - - - - - - POU2AF1 chr11 111742146 111742146 G - 0/22(1.00) 1172 22 hom splicing deletion chr11 rs10708475 - 0.999604 0.4926 splicing ALG9 Reference - - - - - - - - NM_001077690,exon3,c.61-1C>-);NM_024740,exon3,c.61-1C>- chr11 111796137 111796137 - G 1/4(0.80) 197 5 het unknown insertion chr11 rs11384304 0.60 - 0.2794 ncRNA_intronic HSPB2-C11orf52 Reference - - - - - - - - HSPB2-C11orf52 chr11 111853106 111853106 - C 0/53(1.00) 3070 53 hom unknown insertion chr11 rs139455912 - - 0.5098 exonic DIXDC1 Reference - - - - - - - - DIXDC1 chr11 111916002 111916002 G - 0/26(1.00) 1168 26 hom unknown deletion chr11 rs11335731 - - 0.4093 intronic DLAT Reference - - - - - - - - DLAT chr11 112023908 112023908 G - 1/3(0.75) 82 4 het unknown deletion chr11 rs5744252 0.54 - 0.2402 intronic IL18 Reference - - - - - - - - IL18 chr11 112041129 112041137 TTTGTCCTG - 15/13(0.46) 575 28 het unknown deletion chr11 rs149903853 0.42 0.368712 0.3088 intronic TEX12 Reference - - - - - - - - TEX12 chr11 112832276 112832276 - G 25/15(0.38) 208 40 het unknown insertion chr11 rs145493999 - - 0.1250 5-UTR NCAM1 Reference - - - - - - - - NCAM1 chr11 112832307 112832307 - A 0/42(1.00) 2602 42 hom unknown insertion chr11 - 0.99 0.999388 0.5196 5-UTR NCAM1 Reference - - - - - - - - NCAM1 chr11 112832340 112832340 C - 0/44(1.00) 2006 44 hom splicing deletion chr11 rs11284059 - - 0.4926 splicing NCAM1 Reference - - - - - - - - NM_001076682,exon2,c.7-1C>-;NM_181351,exon2,c.7-1C>-;NM_000615,exon2,c.7-1C>-;NM_001242608,exon2,c.7-1C>-;NM_001242607,exon2,c.7-1C>-) chr11 113073054 113073054 - T 4/14(0.78) 296 18 het unknown insertion chr11 rs112087457 0.25 0.107470 0.1838 intronic NCAM1 Reference - - - - - - - - NCAM1 chr11 113073066 113073066 - TTTTGTTTTG 12/13(0.52) 703 25 het unknown insertion chr11 - - 0.159532 0.1127 intronic NCAM1 Reference - - - - - - - - NCAM1 chr11 113569906 113569907 GC - 8/2(0.20) 41 10 het unknown deletion chr11 - - - - intronic TMPRSS5 Reference - - - - - - - - TMPRSS5 chr11 113631432 113631432 A - 23/15(0.39) 227 38 het unknown deletion chr11 rs5794880 - - 0.2255 intronic ZW10 Reference - - - - - - - - ZW10 chr11 113775552 113775554 AGA - 18/18(0.50) 846 36 het unknown deletion chr11 rs145648579 0.17 - 0.1544 5-UTR HTR3B Reference - - - - - - - - HTR3B chr11 113848184 113848184 - CT 0/37(1.00) 2287 37 hom unknown insertion chr11 - - - 0.4020 intronic HTR3A Reference - - - - - - - - HTR3A chr11 114276552 114276552 - A 17/14(0.45) 259 31 het unknown insertion chr11 rs149138725 - 0.247125 0.3039 intronic RBM7 Reference - - - - - - - - RBM7 chr11 114398627 114398627 - A 1/46(0.98) 1104 47 hom unknown insertion chr11 rs34542949 - - 0.3995 intronic NXPE1 Reference - - - - - - - - NXPE1 chr11 116629734 116629734 - A 17/12(0.41) 80 29 het unknown insertion chr11 - - - 0.2451 intronic BUD13 Reference - - - - - - - - BUD13 chr11 117030625 117030625 T - 0/21(1.00) 376 21 hom unknown deletion chr11 rs35139041 - - 0.3039 intronic PAFAH1B2 Reference - - - - - - - - PAFAH1B2 chr11 117052070 117052074 TCTCT - 0/68(1.00) 3070 68 hom unknown deletion chr11 rs35248926 0.46 - 0.4338 intronic SIDT2 Reference - - - - - - - - SIDT2 chr11 117151014 117151014 - GTTT 20/16(0.44) 859 36 het unknown insertion chr11 rs3832781 - - 0.2402 intronic RNF214 Reference - - - - - - - - RNF214 chr11 117161423 117161423 C - 3/8(0.73) 269 11 het unknown deletion chr11 rs3214855 0.15 0.043610 0.1789 intronic BACE1 Reference - - - - - - - - BACE1 chr11 117226715 117226715 - AGCAGCAGC 9/14(0.61) 750 23 het unknown insertion chr11 rs6144525 - - 0.1667 intronic CEP164 Reference - - - - - - - - CEP164 chr11 117280725 117280725 C - 63/57(0.47) 2253 120 het unknown deletion chr11 rs5795079 0.35 0.119737 0.3137 intronic CEP164 Reference - - - - - - - - CEP164 chr11 117789313 117789327 GGGCTGGAGATGCCT - 27/17(0.39) 678 44 het nonframeshift deletion chr11 rs201746372 0.63 0.775306 0.4877 exonic TMPRSS13 Reference - - - - - - - - TMPRSS13,NM_001077263,exon2,c.248_262del,p.83_88del;TMPRSS13,NM_001244995,exon2,c.248_262del,p.83_88del;TMPRSS13,NM_001206790,exon2,c.248_262del,p.83_88del;TMPRSS13,NM_001206789,exon2,c.248_262del,p.83_88del chr11 118210427 118210428 AC - 5/50(0.91) 530 55 het unknown deletion chr11 - - - - intronic CD3D Reference - - - - - - - - CD3D chr11 118210425 118210428 ACAC - 5/50(0.91) 530 55 het unknown deletion chr11 - - - 0.0098 intronic CD3D Reference - - - - - - - - CD3D chr11 118215076 118215079 GGCT - 0/24(1.00) 1282 24 hom unknown deletion chr11 rs150376137 0.57 - 0.3480 5-UTR CD3G Reference - - - - - - - - CD3G chr11 118243717 118243717 G - 3/2(0.40) 55 5 het unknown deletion chr11 - - - - intronic UBE4A Reference - - - - - - - - UBE4A chr11 118245971 118245971 - TG 4/25(0.86) 1384 29 het unknown insertion chr11 rs143426471 - - 0.3260 intronic UBE4A Reference - - - - - - - - UBE4A chr11 118415932 118415932 T - 2/4(0.67) 59 6 het unknown deletion chr11 rs45461900 - - 0.2819 intronic IFT46;TMEM25 Reference - - - - - - - - IFT46;TMEM25 chr11 118505677 118505677 T - 0/14(1.00) 730 14 hom unknown deletion chr11 rs58507527 - - 0.4559 intronic PHLDB1 Reference - - - - - - - - PHLDB1 chr11 118529044 118529044 - G 0/23(1.00) 1405 23 hom unknown insertion chr11 rs11448549 - - 0.3995 exonic TREH Reference - - - - - - - - TREH chr11 118898436 118898436 C - 0/129(1.00) 3070 129 hom splicing deletion chr11 rs56966114 0.99 - 0.5490 splicing SLC37A4 Reference - - - - - - - - NM_001164279,exon7,c.309-1G>-);NM_001467,exon6,c.528-1G>-;NM_001164278,exon7,c.528-1G>-;NM_001164277,exon7,c.528-1G>-;NM_001164280,exon5,c.528-1G>- chr11 118927013 118927013 - C 0/89(1.00) 3070 89 hom unknown insertion chr11 - - - 0.4118 intronic HYOU1 Reference - - - - - - - - HYOU1 chr11 118939939 118939939 - C 0/36(1.00) 2109 36 hom unknown insertion chr11 rs5795166 - - 0.5392 exonic VPS11 Reference - - - - - - - - VPS11 chr11 118968960 118968961 AG - 6/7(0.54) 307 13 het unknown deletion chr11 rs10544271 0.49 - 0.2525 intronic DPAGT1 Reference - - - - - - - - DPAGT1 chr11 119031841 119031841 - C 0/27(1.00) 1483 27 hom unknown insertion chr11 rs11383101 - - 0.4804 3-UTR ABCG4 Reference - - - - - - - - ABCG4 chr11 119043264 119043264 - AT 3/3(0.50) 131 6 het unknown insertion chr11 rs113160059 0.17 - 0.2108 intronic NLRX1 Reference - - - - - - - - NLRX1 chr11 119050352 119050352 - GAACAGGCACATGGAAGGCC 18/18(0.50) 844 36 het unknown insertion chr11 rs140191229 - - 0.1103 intronic NLRX1 Reference - - - - - - - - NLRX1 chr11 119145705 119145705 - T 22/26(0.54) 1370 48 het unknown insertion chr11 rs3842642 0.48 0.268450 0.4044 intronic CBL Reference - - - - - - - - CBL chr11 119986182 119986182 C - 61/46(0.43) 1693 107 het unknown deletion chr11 rs56828071 0.13 0.027245 0.0760 intronic TRIM29 Reference - - - - - - - - TRIM29 chr11 119993898 119993899 CT - 0/181(1.00) 3070 181 hom unknown deletion chr11 rs66674912 0.97 - 0.4289 intronic TRIM29 Reference - - - - - - - - TRIM29 chr11 120313056 120313056 T - 1/51(0.98) 795 52 hom unknown deletion chr11 rs199708925 - - 0.3407 intronic ARHGEF12 Reference - - - - - - - - ARHGEF12 chr11 120338142 120338142 C - 5/3(0.38) 100 8 het unknown deletion chr11 - - - - intronic ARHGEF12 Reference - - - - - - - - ARHGEF12 chr11 121367558 121367558 T - 9/14(0.61) 98 23 het unknown deletion chr11 rs199875238 - - 0.2966 intronic SORL1 Reference - - - - - - - - SORL1 chr11 122653596 122653596 - A 3/3(0.50) 131 6 het unknown insertion chr11 rs139147051 0.25 - 0.2598 intronic UBASH3B Reference - - - - - - - - UBASH3B chr11 122724593 122724593 T - 10/9(0.47) 305 19 het unknown deletion chr11 rs58811874 0.36 - 0.3088 intronic CRTAM Reference - - - - - - - - CRTAM chr11 122827906 122827910 TTAAC - 0/11(1.00) 565 11 hom unknown deletion chr11 rs143794192 0.29 - 0.1936 intronic C11orf63 Reference - - - - - - - - C11orf63 chr11 125452300 125452300 - C 0/63(1.00) 3070 63 hom frameshift insertion chr11 rs150851358 - 0.999824 0.3873 exonic EI24 Reference - - - - - - - - EI24,NM_001007277,exon9,c.733dupC,p.R244fs chr11 125618729 125618729 A - 6/6(0.50) 280 12 het unknown deletion chr11 - - - 0.2402 3-UTR PATE1 Reference - - - - - - - - PATE1 chr11 125618731 125618731 T - 6/6(0.50) 280 12 het unknown deletion chr11 - - - 0.2402 3-UTR PATE1 Reference - - - - - - - - PATE1 chr11 125763567 125763567 C - 5/3(0.38) 102 8 het unknown deletion chr11 rs141738016 - - 0.2868 3-UTR PUS3 Reference - - - - - - - - PUS3 chr11 125778075 125778075 T - 2/38(0.95) 668 40 hom unknown deletion chr11 rs5795465 - - 0.3922 intronic DDX25 Reference - - - - - - - - DDX25 chr11 125864973 125864975 AAC - 3/7(0.70) 298 10 het unknown deletion chr11 rs138741332 - - 0.3309 intronic CDON Reference - - - - - - - - CDON chr11 125867040 125867045 ATATAA - 5/10(0.67) 466 15 het unknown deletion chr11 rs140720667 0.34 - 0.2598 intronic CDON Reference - - - - - - - - CDON chr11 128638217 128638217 G - 1/82(0.99) 2624 83 hom unknown deletion chr11 rs35044982 - - 0.4534 intronic FLI1 Reference - - - - - - - - FLI1 chr11 128652053 128652053 - G 15/17(0.53) 934 32 het unknown insertion chr11 rs3216814 0.60 - 0.3750 intronic FLI1 Reference - - - - - - - - FLI1 chr11 129754103 129754103 - G 0/51(1.00) 3070 51 hom unknown insertion chr11 rs3214551 0.65 0.780511 0.4142 intronic NFRKB Reference - - - - - - - - NFRKB chr11 130064748 130064755 TGTGTGTG - 2/11(0.85) 526 13 het unknown deletion chr11 rs58417767 - - 0.3725 intronic ST14 Reference - - - - - - - - ST14 chr11 130066452 130066452 - C 0/13(1.00) 420 13 hom unknown insertion chr11 - - - 0.5074 intronic ST14 Reference - - - - - - - - ST14 chr11 132812786 132812786 - GGGGCTC 40/33(0.45) 1817 73 het unknown insertion chr11 rs145368132 0.17 0.150704 0.2843 intronic OPCML Reference - - - - - - - - OPCML chr11 134014673 134014673 - CTT 11/9(0.45) 466 20 het unknown insertion chr11 - - - 0.2574 intronic JAM3 Reference - - - - - - - - JAM3 chr11 134018851 134018852 AC - 12/4(0.25) 133 16 het unknown deletion chr11 - - - 0.0539 intronic JAM3 Reference - - - - - - - - JAM3 chr11 134054713 134054713 - ACAC het unknown insertion chr11 - - - - intronic NCAPD3 Reference - - - - - - - - NCAPD3 chr11 134054706 134054713 ACACACAC - 4/9(0.69) 378 13 het unknown deletion chr11 rs146732097 - - 0.1691 intronic NCAPD3 Reference - - - - - - - - NCAPD3 chr11 134215091 134215116 TCTGTGTTCCAGTTCCCATTCTGTAC - 66/24(0.27) 1035 90 het unknown deletion chr11 rs144778132 - - 0.0466 intronic GLB1L2 Reference - - - - - - - - GLB1L2 chr12 271387 271387 T - 0/11(1.00) 176 11 hom unknown deletion chr12 rs11307485 - - 0.3456 intronic IQSEC3 Reference - - - - - - - - IQSEC3 chr12 404432 404432 - AGGAAAAAGGAAAG 4/3(0.43) 127 7 het unknown insertion chr12 rs138969438 - - 0.2279 intronic KDM5A Reference - - - - - - - - KDM5A chr12 1041962 1041996 AACGTACTAGGTACTGCTCACACACGTACTAGGTA - 5/7(0.58) 278 12 het unknown deletion chr12 - - - 0.0613 intronic RAD52 Reference - - - - - - - - RAD52 chr12 1042262 1042262 A - 13/8(0.38) 80 21 het unknown deletion chr12 rs56170870 - 0.263339 0.3015 intronic RAD52 Reference - - - - - - - - RAD52 chr12 1909664 1909664 - A 12/8(0.40) 410 20 het unknown insertion chr12 rs142856742 0.09 0.022344 0.1054 intronic CACNA2D4 Reference - - - - - - - - CACNA2D4 chr12 1950011 1950011 - C 0/69(1.00) 3070 69 hom unknown insertion chr12 - - 0.884764 0.5270 intronic CACNA2D4 Reference - - - - - - - - CACNA2D4 chr12 2016550 2016550 - TTGTC 0/12(1.00) 713 12 hom unknown insertion chr12 rs112521420 - - 0.4118 intronic CACNA2D4 Reference - - - - - - - - CACNA2D4 chr12 2016812 2016824 CTGGTGGGCGTGT - 18/13(0.42) 560 31 het unknown deletion chr12 rs146752695 0.56 - 0.4216 intronic CACNA2D4 Reference - - - - - - - - CACNA2D4 chr12 2016939 2016951 GCCTGGTGAGTAT - 1/5(0.83) 206 6 het unknown deletion chr12 rs113797488 0.40 - 0.3088 intronic CACNA2D4 Reference - - - - - - - - CACNA2D4 chr12 2659045 2659045 G - 110/59(0.35) 2711 169 het unknown deletion chr12 rs34277236 0.21 - 0.2623 intronic CACNA1C Reference - - - - - - - - CACNA1C chr12 2743650 2743650 - T 21/17(0.45) 177 38 het unknown insertion chr12 - - - 0.1765 intronic CACNA1C Reference - - - - - - - - CACNA1C chr12 2760966 2760966 A - 13/22(0.63) 876 35 het unknown deletion chr12 rs34428885 - 0.379245 0.2500 intronic CACNA1C Reference - - - - - - - - CACNA1C chr12 2929161 2929161 A - 9/12(0.57) 456 21 het unknown deletion chr12 rs143987452 0.13 - 0.1569 intronic ITFG2 Reference - - - - - - - - ITFG2 chr12 3018676 3018676 T - 11/13(0.54) 52 24 het unknown deletion chr12 rs11305670 - - 0.3431 intronic TULP3 Reference - - - - - - - - TULP3 chr12 3789551 3789551 - A 11/17(0.61) 946 28 het unknown insertion chr12 - 0.51 0.203275 0.3382 intronic EFCAB4B Reference - - - - - - - - EFCAB4B chr12 3921167 3921167 T - 3/3(0.50) 41 6 het unknown deletion chr12 rs3214323 0.19 - 0.1863 3-UTR PARP11 Reference - - - - - - - - PARP11 chr12 4735965 4735965 - C 30/34(0.53) 1800 64 het frameshift insertion chr12 rs200178782 0.15 0.129073 0.0588 exonic AKAP3 Reference - - - - - - - - AKAP3,NM_006422,exon5,c.2102dupG,p.G701fs;AKAP3,NM_001278309,exon5,c.2102dupG,p.G701fs chr12 4735970 4735970 A - 27/32(0.54) 1550 59 het frameshift deletion chr12 rs67512580 0.15 0.131629 0.0588 exonic AKAP3 Reference - - - - - - - - AKAP3,NM_006422,exon5,c.2098delT,p.S700fs;AKAP3,NM_001278309,exon5,c.2098delT,p.S700fs chr12 4763781 4763782 CA - 0/13(1.00) 675 13 hom unknown deletion chr12 rs3217056 - - 0.2672 intronic NDUFA9 Reference - - - - - - - - NDUFA9 chr12 4854539 4854539 - C 0/20(1.00) 983 20 hom unknown insertion chr12 - 0.39 - 0.2892 intronic GALNT8 Reference - - - - - - - - GALNT8 chr12 6092602 6092609 ATGATAAC - 2/3(0.60) 110 5 het unknown deletion chr12 - - - 0.0172 intronic VWF Reference - - - - - - - - VWF chr12 6161963 6161963 - AGA 0/56(1.00) 3070 56 hom unknown insertion chr12 rs10622633 - 0.854220 0.5245 intronic VWF Reference - - - - - - - - VWF chr12 6422954 6422954 - G 35/27(0.44) 1001 62 het unknown insertion chr12 - - - 0.0098 intronic PLEKHG6 Reference - - - - - - - - PLEKHG6 chr12 6495635 6495635 - A 0/30(1.00) 1802 30 hom unknown insertion chr12 - - - 0.4730 intronic LTBR Reference - - - - - - - - LTBR chr12 6619082 6619084 CTA - 15/14(0.48) 646 29 het unknown deletion chr12 rs144245376 0.20 - 0.1789 intronic NCAPD2 Reference - - - - - - - - NCAPD2 chr12 6777070 6777072 TGC - 10/14(0.58) 661 24 het nonframeshift deletion chr12 rs3835029 - - 0.4289 exonic ZNF384 Reference - - - - - - - - ZNF384,NM_001135734,exon11,c.1542_1544del,p.514_515del;ZNF384,NM_001039920,exon9,c.1194_1196del,p.398_399del;ZNF384,NM_133476,exon10,c.1359_1361del,p.453_454del chr12 6909381 6909381 G - 0/75(1.00) 3070 75 hom unknown deletion chr12 rs75372499 0.69 0.565895 0.4167 intronic CD4 Reference - - - - - - - - CD4 chr12 6923280 6923280 - C 11/12(0.52) 267 23 het unknown insertion chr12 rs28917499 0.03 - 0.0539 intronic CD4 Reference - - - - - - - - CD4 chr12 6955865 6955865 - CACA 0/22(1.00) 1330 22 hom unknown insertion chr12 rs138991440 - - 0.3529 intronic GNB3 Reference - - - - - - - - GNB3 chr12 6959096 6959096 C - 0/27(1.00) 1163 27 hom unknown deletion chr12 rs5796254 0.17 - 0.2279 intronic CDCA3 Reference - - - - - - - - CDCA3 chr12 6965764 6965765 AG - 0/28(1.00) 1503 28 hom unknown deletion chr12 rs72181812 0.17 - 0.2377 intronic USP5 Reference - - - - - - - - USP5 chr12 7044647 7044647 - G 0/25(1.00) 1531 25 hom unknown insertion chr12 - 0.97 - 0.5074 intronic ATN1 Reference - - - - - - - - ATN1 chr12 7045912 7045912 - CAG het nonframeshift insertion chr12 - - - - exonic ATN1 Reference - - - - - - - - ATN1,NM_001940,exon5,c.1482_1483insCAG,p.Q494delinsQQ;ATN1,NM_001007026,exon5,c.1482_1483insCAG,p.Q494delinsQQ chr12 7045892 7045912 CAGCAGCAGCAGCAGCAGCAG - 20/23(0.53) 1062 43 het nonframeshift deletion chr12 rs66756893 - - 0.0270 exonic ATN1 Reference - - - - - - - - ATN1,NM_001940,exon5,c.1462_1482del,p.488_494del;ATN1,NM_001007026,exon5,c.1462_1482del,p.488_494del chr12 7080210 7080210 - G 0/43(1.00) 2665 43 hom unknown insertion chr12 rs113953006 - 0.996312 0.5196 exonic EMG1 Reference - - - - - - - - EMG1 chr12 7087910 7087910 - CA 20/25(0.56) 1328 45 het unknown insertion chr12 - 0.01 0.022604 0.0392 intronic LPCAT3 Reference - - - - - - - - LPCAT3 chr12 7090659 7090659 - G 0/22(1.00) 1342 22 hom unknown insertion chr12 - - - 0.4755 intronic LPCAT3 Reference - - - - - - - - LPCAT3 chr12 7172665 7172665 - AAAG 27/28(0.51) 1558 55 het unknown insertion chr12 rs112796495 0.10 - 0.1691 intronic C1S Reference - - - - - - - - C1S chr12 7187785 7187785 T - 26/31(0.54) 403 57 het unknown deletion chr12 - - - 0.0711 3-UTR C1R Reference - - - - - - - - C1R chr12 7294658 7294658 T - 9/19(0.68) 47 28 het unknown deletion chr12 rs63110460 - - 0.2157 intronic CLSTN3 Reference - - - - - - - - CLSTN3 chr12 7362158 7362158 - TG 19/6(0.24) 262 25 het unknown insertion chr12 - - - 0.0417 intronic PEX5 Reference - - - - - - - - PEX5 chr12 7362163 7362166 AACA - 20/10(0.33) 440 30 het unknown deletion chr12 - - - 0.0735 intronic PEX5 Reference - - - - - - - - PEX5 chr12 7362170 7362170 - TTG 22/6(0.21) 209 28 het unknown insertion chr12 - - - 0.0123 intronic PEX5 Reference - - - - - - - - PEX5 chr12 7362171 7362177 AGTGAAA - 21/11(0.34) 456 32 het unknown deletion chr12 - - - 0.0319 intronic PEX5 Reference - - - - - - - - PEX5 chr12 7362172 7362172 - C 22/6(0.21) 201 28 het unknown insertion chr12 - - - 0.0074 intronic PEX5 Reference - - - - - - - - PEX5 chr12 7362179 7362179 A - 21/17(0.45) 785 38 het unknown deletion chr12 - - - 0.1054 intronic PEX5 Reference - - - - - - - - PEX5 chr12 7521564 7521565 GA - 7/7(0.50) 292 14 het unknown deletion chr12 rs148414953 - - 0.0980 intronic CD163L1 Reference - - - - - - - - CD163L1 chr12 7805509 7805512 TTTT - 0/22(1.00) 683 22 hom unknown deletion chr12 rs147974756 - - 0.1201 intronic APOBEC1 Reference - - - - - - - - APOBEC1 chr12 7818351 7818362 ACACACACACAC - 14/7(0.33) 111 21 het unknown deletion chr12 - - - - intronic APOBEC1 Reference - - - - - - - - APOBEC1 chr12 7818349 7818362 ACACACACACACAC - 14/7(0.33) 111 21 het unknown deletion chr12 - - - 0.0466 intronic APOBEC1 Reference - - - - - - - - APOBEC1 chr12 7868777 7868777 - T 0/21(1.00) 701 21 hom unknown insertion chr12 - - - 0.2230 intronic DPPA3 Reference - - - - - - - - DPPA3 chr12 7894133 7894133 A - 30/22(0.42) 787 52 het unknown deletion chr12 rs80204298 0.23 0.219169 0.2525 intronic CLEC4C Reference - - - - - - - - CLEC4C chr12 7945967 7945968 CT - 7/3(0.30) 96 10 het unknown deletion chr12 rs149866120 0.07 - 0.1201 intronic NANOG Reference - - - - - - - - NANOG chr12 7966824 7966824 A - 10/6(0.38) 243 16 het unknown deletion chr12 rs34707191 0.20 - 0.1887 3-UTR SLC2A14 Reference - - - - - - - - SLC2A14 chr12 7970331 7970331 - AA 0/13(1.00) 546 13 hom unknown insertion chr12 rs3040823 0.38 - 0.1593 intronic SLC2A14 Reference - - - - - - - - SLC2A14 chr12 7970339 7970339 - AGATAG 0/10(1.00) 583 10 hom unknown insertion chr12 - - - 0.0098 intronic SLC2A14 Reference - - - - - - - - SLC2A14 chr12 8692328 8692328 A - 8/10(0.56) 134 18 het unknown deletion chr12 rs148901915 - - 0.1127 intronic CLEC4E Reference - - - - - - - - CLEC4E chr12 8693245 8693245 - C 6/8(0.57) 438 14 het unknown insertion chr12 - - - 0.3407 intronic CLEC4E Reference - - - - - - - - CLEC4E chr12 9007226 9007241 AGTTCTTCTGAGCTTC - 3/4(0.57) 159 7 het unknown deletion chr12 rs6144605 0.76 - 0.3456 intronic A2ML1 Reference - - - - - - - - A2ML1 chr12 9009999 9009999 - AA 14/6(0.30) 277 20 het unknown insertion chr12 - - - 0.1716 intronic A2ML1 Reference - - - - - - - - A2ML1 chr12 9021053 9021053 - GT 1/4(0.80) 127 5 het unknown insertion chr12 - - - - intronic A2ML1 Reference - - - - - - - - A2ML1 chr12 9021053 9021053 - GTGT 1/4(0.80) 127 5 het unknown insertion chr12 rs5796325 - - 0.2770 intronic A2ML1 Reference - - - - - - - - A2ML1 chr12 9098995 9098995 - AAC 40/41(0.51) 2298 81 het nonframeshift insertion chr12 rs149871778 0.28 0.076997 0.4069 exonic M6PR Reference - - - - - - - - M6PR,NM_002355,exon2,c.5_6insGTT,p.F2delinsLF;M6PR,NM_001207024,exon2,c.5_6insGTT,p.F2delinsLF chr12 9310576 9310576 T - 0/22(1.00) 982 22 hom unknown deletion chr12 rs200837969 0.45 - 0.3162 intronic PZP Reference - - - - - - - - PZP chr12 9334728 9334728 - AGTGAGACAAAATGGTCATA 0/69(1.00) 3070 69 hom unknown insertion chr12 rs3832849 - 0.702128 0.4167 intronic PZP Reference - - - - - - - - PZP chr12 9349370 9349370 - T 10/7(0.41) 105 17 het unknown insertion chr12 rs11049396 - - 0.3603 intronic PZP Reference - - - - - - - - PZP chr12 9462681 9462681 - GCC 14/4(0.22) 157 18 het unknown insertion chr12 - - - 0.1225 ncRNA_intronic LOC642846 Reference - - - - - - - - LOC642846 chr12 9572788 9572788 - GCACCTGGAT 0/12(1.00) 624 12 hom unknown insertion chr12 - - 0.871881 0.3480 ncRNA_exonic DDX12P Reference - - - - - - - - DDX12P chr12 9573288 9573295 AGGAAGGG - 6/11(0.65) 481 17 het unknown deletion chr12 - - 0.541776 0.3505 ncRNA_intronic DDX12P Reference - - - - - - - - DDX12P chr12 9573305 9573305 G - 10/3(0.23) 55 13 het unknown deletion chr12 - - - 0.1397 ncRNA_intronic DDX12P Reference - - - - - - - - DDX12P chr12 9590651 9590651 - CTGAGTAAC 41/66(0.62) 3070 107 het unknown insertion chr12 - - - 0.3113 ncRNA_exonic DDX12P Reference - - - - - - - - DDX12P chr12 9747744 9747744 - A 5/8(0.62) 425 13 het unknown insertion chr12 rs3214342 0.53 - 0.3039 downstream KLRB1 Reference - - - - - - - - KLRB1 chr12 9751035 9751035 - AT 0/17(1.00) 1028 17 hom unknown insertion chr12 rs35262804 0.99 - 0.3627 intronic KLRB1 Reference - - - - - - - - KLRB1 chr12 9754221 9754221 - AAAC 0/46(1.00) 2829 46 hom unknown insertion chr12 rs34177096 - - 0.4608 intronic KLRB1 Reference - - - - - - - - KLRB1 chr12 9848439 9848439 - TGC 1/6(0.86) 255 7 het unknown insertion chr12 rs144516238 - - 0.3088 3-UTR CLEC2D Reference - - - - - - - - CLEC2D chr12 9885707 9885707 - TAAGT 56/60(0.52) 3070 116 het frameshift insertion chr12 rs112979434 0.35 0.568850 0.4559 exonic CLECL1 Reference - - - - - - - - CLECL1,NM_172004,exon1,c.153_154insACTTA,p.S52fs;CLECL1,NM_001253750,exon1,c.153_154insACTTA,p.S52fs;CLECL1,NM_001267701,exon1,c.153_154insACTTA,p.S52fs chr12 9994446 9994448 TGT - 0/16(1.00) 841 16 hom nonframeshift deletion chr12 rs33911869 - 0.993766 0.5270 exonic KLRF1 Reference - - - - - - - - KLRF1,NM_016523,exon4,c.373_375del,p.125_125del chr12 10146005 10146005 - A 15/9(0.38) 100 24 het unknown insertion chr12 - - - 0.2206 intronic CLEC1B Reference - - - - - - - - CLEC1B chr12 10146014 10146014 - C 9/16(0.64) 539 25 het unknown insertion chr12 rs111822363 - - 0.3701 intronic CLEC1B Reference - - - - - - - - CLEC1B chr12 10149204 10149204 T - 2/3(0.60) 111 5 het unknown deletion chr12 rs67059054 0.68 - 0.2402 intronic CLEC1B Reference - - - - - - - - CLEC1B chr12 10151762 10151762 - C 1/198(0.99) 3070 199 hom unknown insertion chr12 - 0.77 0.677256 0.4093 5-UTR CLEC1B Reference - - - - - - - - CLEC1B chr12 10217326 10217326 - TT 0/50(1.00) 3070 50 hom unknown insertion chr12 - - 0.956070 0.5123 intronic CLEC9A Reference - - - - - - - - CLEC9A chr12 10342807 10342807 C - 0/12(1.00) 620 12 hom unknown deletion chr12 rs11307497 - - 0.3897 3-UTR TMEM52B Reference - - - - - - - - TMEM52B chr12 10586978 10586978 - T 25/16(0.39) 741 41 het unknown insertion chr12 rs144149096 - - 0.1054 intronic KLRC2 Reference - - - - - - - - KLRC2 chr12 10749665 10749666 AA - 5/9(0.64) 320 14 het unknown deletion chr12 rs78789258 0.27 - 0.2353 ncRNA_intronic KLRAP1 Reference - - - - - - - - KLRAP1 chr12 10786757 10786757 - GAA 0/73(1.00) 3070 73 hom unknown insertion chr12 - 0.97 0.937620 0.5417 intronic STYK1 Reference - - - - - - - - STYK1 chr12 10854208 10854208 A - 2/2(0.50) 34 4 het unknown deletion chr12 rs3214857 0.60 - 0.2500 intronic YBX3 Reference - - - - - - - - YBX3 chr12 10856846 10856846 A - 3/7(0.70) 229 10 het unknown deletion chr12 rs141466000 0.28 - 0.1838 intronic YBX3 Reference - - - - - - - - YBX3 chr12 11139432 11139432 A - 7/8(0.53) 122 15 het frameshift deletion chr12 rs201200425 0.01 0.011749 0.0098 exonic TAS2R50 Reference - - - - - - - - TAS2R50,NM_176890,exon1,c.28delT,p.S10fs chr12 11150541 11150541 A - 0/14(1.00) 609 14 hom unknown deletion chr12 rs34965724 0.74 - 0.2696 ncRNA_intronic PRH1-PRR4 Reference - - - - - - - - PRH1-PRR4 chr12 11338531 11338532 AC - 10/3(0.23) 94 13 het unknown deletion chr12 - - - - downstream TAS2R42 Reference - - - - - - - - TAS2R42 chr12 11420334 11420334 G - 30/20(0.40) 701 50 het unknown deletion chr12 rs3842295 - - 0.4804 intronic PRB3 Reference - - - - - - - - PRB3 chr12 11421093 11421093 - GGG 22/16(0.42) 802 38 het unknown insertion chr12 - 0.59 - 0.4044 intronic PRB3 Reference - - - - - - - - PRB3 chr12 12491824 12491824 - AC 1/3(0.75) 128 4 het unknown insertion chr12 rs143527022 - - 0.0931 intronic MANSC1 Reference - - - - - - - - MANSC1 chr12 12630666 12630674 GCACGCTGG - 0/38(1.00) 2008 38 hom nonframeshift deletion chr12 rs142947418 - 0.080403 0.1667 exonic DUSP16 Reference - - - - - - - - DUSP16,NM_030640,exon7,c.1091_1099del,p.364_367del chr12 13154583 13154583 G - 0/17(1.00) 641 17 hom unknown deletion chr12 rs59113920 0.37 - 0.2623 ncRNA_exonic HTR7P1 Reference - - - - - - - - HTR7P1 chr12 13211496 13211496 T - 15/15(0.50) 365 30 het unknown deletion chr12 rs76117339 0.48 0.215815 0.4412 intronic KIAA1467 Reference - - - - - - - - KIAA1467 chr12 14720555 14720557 GCA - 0/13(1.00) 660 13 hom nonframeshift deletion chr12 rs147342083 0.74 - 0.3137 exonic PLBD1 Reference - - - - - - - - PLBD1,NM_024829,exon1,c.74_76del,p.25_26del chr12 14827464 14827466 ATC - 44/34(0.44) 1604 78 het unknown deletion chr12 rs3217157 0.75 - 0.4191 intronic GUCY2C Reference - - - - - - - - GUCY2C chr12 14834422 14834422 A - 0/88(1.00) 3070 88 hom unknown deletion chr12 rs56944147 0.99 0.923562 0.5245 intronic GUCY2C Reference - - - - - - - - GUCY2C chr12 14947676 14947676 A - 22/20(0.48) 234 42 het unknown deletion chr12 rs34868934 - 0.442500 0.3407 intronic WBP11 Reference - - - - - - - - WBP11 chr12 15067511 15067511 - GC 1/4(0.80) 175 5 het unknown insertion chr12 - - - - 3-UTR ERP27 Reference - - - - - - - - ERP27 chr12 15067511 15067511 - GTGC 1/4(0.80) 175 5 het unknown insertion chr12 rs148149515 - - 0.2598 3-UTR ERP27 Reference - - - - - - - - ERP27 chr12 15091221 15091221 - T 0/77(1.00) 3070 77 hom unknown insertion chr12 rs11432737 - - 0.4828 intronic ERP27 Reference - - - - - - - - ERP27 chr12 15731724 15731724 - G 0/45(1.00) 2791 45 hom unknown insertion chr12 - - - 0.4926 intronic PTPRO Reference - - - - - - - - PTPRO chr12 16055926 16055926 - T 0/11(1.00) 650 11 hom unknown insertion chr12 - 0.99 - 0.4044 3-UTR STRAP Reference - - - - - - - - STRAP chr12 16713487 16713487 - T 23/21(0.48) 203 44 het unknown insertion chr12 - - - 0.2377 intronic LMO3 Reference - - - - - - - - LMO3 chr12 18854541 18854549 TCCTCCTCC - 1/3(0.75) 113 4 het unknown deletion chr12 rs11279217 - - 0.0123 intronic PLCZ1 Reference - - - - - - - - PLCZ1 chr12 18890473 18890473 T - 0/49(1.00) 1400 49 hom unknown deletion chr12 rs5796766 - - 0.3873 intronic PLCZ1 Reference - - - - - - - - PLCZ1 chr12 19646944 19646955 TGGTGTATTTCA - 0/11(1.00) 564 11 hom unknown deletion chr12 rs66556640 0.48 0.503105 0.3211 intronic AEBP2 Reference - - - - - - - - AEBP2 chr12 21457515 21457515 A - 1/27(0.96) 544 28 hom unknown deletion chr12 rs3833795 - 0.298243 0.3088 intronic SLCO1A2 Reference - - - - - - - - SLCO1A2 chr12 21615917 21615917 - AG 0/20(1.00) 1216 20 hom unknown insertion chr12 rs34595378 0.51 - 0.3137 intronic PYROXD1 Reference - - - - - - - - PYROXD1 chr12 21624309 21624309 A - 0/35(1.00) 865 35 hom unknown deletion chr12 rs56736899 - - 0.2181 intronic RECQL Reference - - - - - - - - RECQL chr12 21629993 21629993 - C 0/24(1.00) 1468 24 hom unknown insertion chr12 rs35536022 0.54 - 0.3235 intronic RECQL Reference - - - - - - - - RECQL chr12 21639386 21639386 A - 8/9(0.53) 63 17 het unknown deletion chr12 - - - 0.0074 intronic RECQL Reference - - - - - - - - RECQL chr12 21639529 21639529 A - 7/8(0.53) 35 15 het unknown deletion chr12 rs10712738 - - 0.2966 intronic RECQL Reference - - - - - - - - RECQL chr12 21657591 21657591 T - 39/56(0.59) 2282 95 het unknown deletion chr12 rs67392337 - - 0.4338 intronic GOLT1B Reference - - - - - - - - GOLT1B chr12 21679653 21679654 TT - 19/11(0.37) 362 30 het unknown deletion chr12 rs10564739 - - 0.0098 intronic C12orf39 Reference - - - - - - - - C12orf39 chr12 21692167 21692167 A - 3/5(0.62) 66 8 het unknown deletion chr12 rs36023861 - - 0.3186 intronic GYS2 Reference - - - - - - - - GYS2 chr12 21712729 21712743 ACATTCTTTGAAATT - 1/3(0.75) 113 4 het unknown deletion chr12 rs111250042 - - 0.3088 intronic GYS2 Reference - - - - - - - - GYS2 chr12 22215409 22215412 AATT - 19/34(0.64) 1638 53 het unknown deletion chr12 rs143225178 0.54 0.197507 0.3799 intronic CMAS Reference - - - - - - - - CMAS chr12 22796994 22796994 - T 0/25(1.00) 1531 25 hom unknown insertion chr12 - 0.98 0.959146 0.4363 intronic ETNK1 Reference - - - - - - - - ETNK1 chr12 25257183 25257183 A - 0/12(1.00) 353 12 hom unknown deletion chr12 rs34133737 - - 0.3554 intronic LRMP Reference - - - - - - - - LRMP chr12 25343704 25343707 TTCC - 7/11(0.61) 513 18 het unknown deletion chr12 rs200099292 0.05 - 0.0637 intronic CASC1 Reference - - - - - - - - CASC1 chr12 25656743 25656743 - A 5/10(0.67) 231 15 het unknown insertion chr12 - - - - intronic IFLTD1 Reference - - - - - - - - IFLTD1 chr12 26568457 26568465 AAGAAAAGA - 11/9(0.45) 397 20 het unknown deletion chr12 rs138735480 - 0.365159 0.1912 intronic ITPR2 Reference - - - - - - - - ITPR2 chr12 26834804 26834804 - ACTC 0/90(1.00) 3070 90 hom unknown insertion chr12 rs111626763 0.76 0.633088 0.4167 intronic ITPR2 Reference - - - - - - - - ITPR2 chr12 26835428 26835429 TG - 73/64(0.47) 3070 137 het unknown deletion chr12 rs3830262 0.57 - 0.3603 intronic ITPR2 Reference - - - - - - - - ITPR2 chr12 26848663 26848663 - T 0/12(1.00) 713 12 hom unknown insertion chr12 rs3830260 0.85 0.819925 0.3358 intronic ITPR2 Reference - - - - - - - - ITPR2 chr12 26874138 26874138 - T 13/12(0.48) 183 25 het unknown insertion chr12 rs35227556 0.19 - 0.2157 intronic ITPR2 Reference - - - - - - - - ITPR2 chr12 27132691 27132691 - A 26/31(0.54) 1379 57 het unknown insertion chr12 - 0.36 0.156150 0.3578 intronic TM7SF3 Reference - - - - - - - - TM7SF3 chr12 27623433 27623433 - T 0/16(1.00) 914 16 hom unknown insertion chr12 rs35052632 0.56 - 0.3333 intronic SMCO2 Reference - - - - - - - - SMCO2 chr12 27800576 27800576 - T 26/12(0.32) 273 38 het unknown insertion chr12 rs34792131 0.76 - 0.4044 intronic PPFIBP1 Reference - - - - - - - - PPFIBP1 chr12 27817409 27817409 T - 0/71(1.00) 3070 71 hom unknown deletion chr12 rs34613698 0.53 0.421448 0.3725 intronic PPFIBP1 Reference - - - - - - - - PPFIBP1 chr12 29446477 29446477 - A 0/25(1.00) 657 25 hom unknown insertion chr12 rs34311917 - - 0.3775 ncRNA_intronic LOC100506606 Reference - - - - - - - - LOC100506606 chr12 29524366 29524366 A - 0/47(1.00) 2045 47 hom unknown deletion chr12 rs3214493 0.33 - 0.2868 intronic ERGIC2 Reference - - - - - - - - ERGIC2 chr12 29586811 29586811 A - 7/5(0.42) 38 12 het unknown deletion chr12 rs148996239 - - 0.1397 ncRNA_intronic OVCH1-AS1 Reference - - - - - - - - OVCH1-AS1 chr12 30887786 30887787 AC - 1/2(0.67) 58 3 het unknown deletion chr12 - - - - intronic CAPRIN2 Reference - - - - - - - - CAPRIN2 chr12 30887784 30887787 ACAC - 1/2(0.67) 58 3 het unknown deletion chr12 rs72163487 - - - intronic CAPRIN2 Reference - - - - - - - - CAPRIN2 chr12 31145010 31145010 - CTA 0/17(1.00) 1028 17 hom unknown insertion chr12 rs10701557 - - 0.4044 3-UTR TSPAN11 Reference - - - - - - - - TSPAN11 chr12 31255772 31255772 - G 0/12(1.00) 674 12 hom unknown insertion chr12 - 0.76 - 0.3799 intronic DDX11 Reference - - - - - - - - DDX11 chr12 31359159 31359159 - AATGGTAA 17/11(0.39) 567 28 het unknown insertion chr12 rs5797404 0.73 0.466869 0.3922 intergenic DDX11;FAM60A Reference - - - - - - - - DDX11(dist=101434);FAM60A(dist=74361) chr12 31633258 31633258 - T 0/12(1.00) 383 12 hom unknown insertion chr12 - 0.83 - 0.3456 intronic DENND5B Reference - - - - - - - - DENND5B chr12 32138975 32138975 T - 0/36(1.00) 1634 36 hom unknown deletion chr12 rs35804480 0.85 - 0.4314 intronic KIAA1551 Reference - - - - - - - - KIAA1551 chr12 32949029 32949029 - G 0/28(1.00) 1720 28 hom unknown insertion chr12 rs149968852 0.57 0.190415 0.4632 intronic PKP2 Reference - - - - - - - - PKP2 chr12 32949252 32949253 AC - 5/8(0.62) 286 13 het unknown deletion chr12 rs200266270 0.55 0.185703 0.0441 intronic PKP2 Reference - - - - - - - - PKP2 chr12 32949253 32949253 C - 5/8(0.62) 286 13 het unknown deletion chr12 rs57690055 0.55 - 0.3505 intronic PKP2 Reference - - - - - - - - PKP2 chr12 33578998 33579005 CACACACA - 1/12(0.92) 579 13 het unknown deletion chr12 rs36220040 - - 0.2868 intronic SYT10 Reference - - - - - - - - SYT10 chr12 39124173 39124173 - A 0/14(1.00) 520 14 hom unknown insertion chr12 rs5797589 - 0.956752 0.3750 intronic CPNE8 Reference - - - - - - - - CPNE8 chr12 40345185 40345185 - A 0/24(1.00) 553 24 hom unknown insertion chr12 - - 0.494087 0.3505 intronic SLC2A13 Reference - - - - - - - - SLC2A13 chr12 40681142 40681142 - T 0/65(1.00) 3070 65 hom unknown insertion chr12 - 0.34 0.404218 0.2745 intronic LRRK2 Reference - - - - - - - - LRRK2 chr12 40757187 40757187 T - 1/27(0.96) 626 28 hom unknown deletion chr12 rs11317573 - - 0.3284 intronic LRRK2 Reference - - - - - - - - LRRK2 chr12 40830606 40830607 GT - 2/10(0.83) 428 12 het unknown deletion chr12 - - - - intronic MUC19 Reference - - - - - - - - MUC19 chr12 40830600 40830607 GTGTGTGT - 2/10(0.83) 428 12 het unknown deletion chr12 rs200389241 - - 0.1422 intronic MUC19 Reference - - - - - - - - MUC19 chr12 40857127 40857131 AAGTA - 5/6(0.55) 258 11 het unknown deletion chr12 rs144249723 0.29 - 0.1716 intronic MUC19 Reference - - - - - - - - MUC19 chr12 40894745 40894745 - CTGAGAATAC 34/28(0.45) 1535 62 het unknown insertion chr12 rs111256342 - - 0.3431 intronic MUC19 Reference - - - - - - - - MUC19 chr12 40939067 40939067 A - 8/8(0.50) 206 16 het unknown deletion chr12 rs139186904 0.17 - 0.1471 intronic MUC19 Reference - - - - - - - - MUC19 chr12 40942491 40942491 - CT 18/11(0.38) 565 29 het unknown insertion chr12 rs145855541 0.17 - 0.1397 intronic MUC19 Reference - - - - - - - - MUC19 chr12 40954998 40954998 - T 5/7(0.58) 118 12 het unknown insertion chr12 rs146275060 - - 0.1348 intronic MUC19 Reference - - - - - - - - MUC19 chr12 42503504 42503504 - A 20/20(0.50) 1098 40 het unknown insertion chr12 rs201103553 0.10 0.171586 0.0417 intronic GXYLT1 Reference - - - - - - - - GXYLT1 chr12 42768646 42768646 - T 11/23(0.68) 247 34 het unknown insertion chr12 - - - 0.2059 intronic PPHLN1 Reference - - - - - - - - PPHLN1 chr12 43826277 43826277 - A 24/18(0.43) 185 42 het unknown insertion chr12 - - - 0.3554 intronic ADAMTS20 Reference - - - - - - - - ADAMTS20 chr12 43827509 43827516 ACACACAC - 0/3(1.00) 105 3 het unknown deletion chr12 - - - - intronic ADAMTS20 Reference - - - - - - - - ADAMTS20 chr12 43827507 43827516 ACACACACAC - 0/3(1.00) 105 3 het unknown deletion chr12 rs140835441 - - 0.0760 intronic ADAMTS20 Reference - - - - - - - - ADAMTS20 chr12 44130124 44130124 A - 7/13(0.65) 423 20 het unknown deletion chr12 rs113047505 0.12 - 0.1446 intronic PUS7L Reference - - - - - - - - PUS7L chr12 45797394 45797401 ACATAGCC - 59/24(0.29) 1017 83 het unknown deletion chr12 rs148280109 - - 0.2770 intronic ANO6 Reference - - - - - - - - ANO6 chr12 47761313 47761313 - T 3/47(0.94) 936 50 hom unknown insertion chr12 - - - 0.3897 intergenic PCED1B;RPAP3 Reference - - - - - - - - RPAP3(dist=294402);PCED1B(dist=130867) chr12 48134382 48134382 G - 39/44(0.53) 1329 83 het unknown deletion chr12 rs35703007 0.46 - 0.3946 intronic RAPGEF3 Reference - - - - - - - - RAPGEF3 chr12 48143095 48143095 - CTCTGGT 1/77(0.99) 3070 78 hom unknown insertion chr12 rs149061709 - - 0.3701 intronic RAPGEF3 Reference - - - - - - - - RAPGEF3 chr12 48251153 48251153 A - 10/18(0.64) 870 28 het unknown deletion chr12 - - - - intronic VDR Reference - - - - - - - - VDR chr12 48373718 48373718 - C 0/30(1.00) 1309 30 hom unknown insertion chr12 - - 0.908128 0.3946 intronic COL2A1 Reference - - - - - - - - COL2A1 chr12 48375437 48375437 - T 13/7(0.35) 340 20 het unknown insertion chr12 rs72518082 0.38 - 0.3186 intronic COL2A1 Reference - - - - - - - - COL2A1 chr12 48376443 48376443 - C 8/17(0.68) 846 25 het unknown insertion chr12 rs3842680 0.58 0.436418 0.3456 intronic COL2A1 Reference - - - - - - - - COL2A1 chr12 48534814 48534814 - G 3/5(0.62) 251 8 het unknown insertion chr12 rs34700912 0.38 - 0.3407 intronic PFKM Reference - - - - - - - - PFKM chr12 48596875 48596875 - A 51/41(0.45) 2265 92 het frameshift insertion chr12 - 0.14 0.233786 0.1961 exonic OR10AD1 Reference - - - - - - - - OR10AD1,NM_001004134,exon1,c.200dupT,p.L67fs chr12 48738556 48738556 A - 7/7(0.50) 100 14 het unknown deletion chr12 rs34591795 - - 0.2941 intronic ZNF641 Reference - - - - - - - - ZNF641 chr12 48867275 48867275 - C 6/6(0.50) 197 12 het unknown insertion chr12 rs35164299 0.63 - 0.3603 downstream ANP32D Reference - - - - - - - - ANP32D chr12 49218810 49218810 - T 28/21(0.43) 1068 49 het unknown insertion chr12 - 0.40 0.422764 0.3750 intronic CACNB3 Reference - - - - - - - - CACNB3 chr12 49219685 49219685 - A 2/5(0.71) 254 7 het unknown insertion chr12 rs35252456 0.38 - 0.2500 intronic CACNB3 Reference - - - - - - - - CACNB3 chr12 49416047 49416047 C - 0/46(1.00) 2099 46 hom unknown deletion chr12 rs34546217 0.39 0.257008 0.4436 intronic KMT2D Reference - - - - - - - - KMT2D chr12 49417948 49417951 CTAA - 6/3(0.33) 99 9 het unknown deletion chr12 rs146247952 0.03 - 0.0221 intronic KMT2D Reference - - - - - - - - KMT2D chr12 49442356 49442356 - A 0/26(1.00) 1426 26 hom unknown insertion chr12 rs5798090 0.40 - 0.3554 intronic KMT2D Reference - - - - - - - - KMT2D chr12 49463280 49463281 TG - 0/36(1.00) 1945 36 hom unknown deletion chr12 rs5798088 0.40 - 0.3137 intronic RHEBL1 Reference - - - - - - - - RHEBL1 chr12 49463353 49463353 T - 0/66(1.00) 3070 66 hom unknown deletion chr12 rs71080168 0.30 - 0.2770 intronic RHEBL1 Reference - - - - - - - - RHEBL1 chr12 49463357 49463360 CCAA - 0/66(1.00) 3070 66 hom unknown deletion chr12 - - - 0.2770 intronic RHEBL1 Reference - - - - - - - - RHEBL1 chr12 49463362 49463374 CCTCCACTCTTCC - 1/70(0.99) 3070 71 hom unknown deletion chr12 rs200055056 0.28 - 0.2647 intronic RHEBL1 Reference - - - - - - - - RHEBL1 chr12 49494862 49494862 - A 0/14(1.00) 748 14 hom unknown insertion chr12 rs35472356 0.71 - 0.3627 intronic LMBR1L Reference - - - - - - - - LMBR1L chr12 49523524 49523525 AT - 0/34(1.00) 1835 34 hom unknown deletion chr12 rs34070757 - 0.243371 0.4951 intronic TUBA1B Reference - - - - - - - - TUBA1B chr12 49937655 49937655 C - 12/24(0.67) 644 36 het unknown deletion chr12 rs11337899 0.06 - 0.1275 intronic KCNH3 Reference - - - - - - - - KCNH3 chr12 49956972 49956973 CT - 33/35(0.51) 1688 68 het unknown deletion chr12 rs61331732 0.06 0.218724 0.1201 intronic MCRS1 Reference - - - - - - - - MCRS1 chr12 50040811 50040811 - G 42/60(0.59) 2714 102 het unknown insertion chr12 - 0.07 0.352250 0.1373 intronic FMNL3 Reference - - - - - - - - FMNL3 chr12 50529092 50529103 GTGTGTGTGTGT - 3/6(0.67) 263 9 het unknown deletion chr12 rs71911868 - - 0.2353 intronic CERS5 Reference - - - - - - - - CERS5 chr12 51121630 51121630 A - 40/44(0.52) 1326 84 het unknown deletion chr12 rs3832875 0.31 0.340096 0.2304 intronic DIP2B Reference - - - - - - - - DIP2B chr12 51354692 51354692 - T 11/11(0.50) 586 22 het unknown insertion chr12 rs141832341 0.47 - 0.2770 intronic HIGD1C Reference - - - - - - - - HIGD1C chr12 51388601 51388601 C - 3/2(0.40) 34 5 het unknown deletion chr12 rs11353962 0.86 - 0.3309 intronic SLC11A2 Reference - - - - - - - - SLC11A2 chr12 52159438 52159438 - T 0/13(1.00) 280 13 hom unknown insertion chr12 rs111379317 - 0.712562 0.3946 intronic SCN8A Reference - - - - - - - - SCN8A chr12 52173781 52173781 - TTC 0/12(1.00) 713 12 hom unknown insertion chr12 rs76315468 0.97 - 0.3554 intronic SCN8A Reference - - - - - - - - SCN8A chr12 52307964 52307984 CAGAATTGGAATTCTGCTGGG - 14/9(0.39) 390 23 het unknown deletion chr12 rs67833112 - - 0.1765 intronic ACVRL1 Reference - - - - - - - - ACVRL1 chr12 52345498 52345500 GCG - 0/13(1.00) 655 13 hom unknown deletion chr12 rs10540557 0.95 - 0.2500 5-UTR ACVR1B Reference - - - - - - - - ACVR1B chr12 52631394 52631394 - AT 0/74(1.00) 3070 74 hom unknown insertion chr12 rs10637094 - 0.836901 0.4706 intronic KRT7 Reference - - - - - - - - KRT7 chr12 52789694 52789694 T - 0/20(1.00) 1062 20 hom unknown deletion chr12 rs11304728 0.59 - 0.4314 intronic KRT82 Reference - - - - - - - - KRT82 chr12 52844477 52844477 - C 22/8(0.27) 373 30 het unknown insertion chr12 rs5798212 - - 0.3676 intronic KRT6B Reference - - - - - - - - KRT6B chr12 52865844 52865844 - CATTTCTCCTGTTTAA 39/6(0.13) 190 45 het unknown insertion chr12 - - - 0.0466 intronic KRT6C Reference - - - - - - - - KRT6C chr12 52882410 52882410 - GAA 0/18(1.00) 1120 18 hom unknown insertion chr12 rs144849815 - - 0.4926 intronic KRT6A Reference - - - - - - - - KRT6A chr12 53045601 53045603 CTG - 74/12(0.14) 362 86 het nonframeshift deletion chr12 - - - 0.1691 exonic KRT2 Reference - - - - - - - - KRT2,NM_000423,exon1,c.324_326del,p.108_109del chr12 53069223 53069243 ACCTCCGGAGCCGTAGCTGCT - 11/9(0.45) 397 20 het nonframeshift deletion chr12 - - 0.414819 0.1471 exonic KRT1 Reference - - - - - - - - KRT1,NM_006121,exon9,c.1669_1689del,p.557_563del chr12 53073471 53073471 - A 6/11(0.65) 602 17 het unknown insertion chr12 - 0.22 - 0.2279 intronic KRT1 Reference - - - - - - - - KRT1 chr12 53089461 53089464 ACCC - 0/14(1.00) 730 14 hom unknown deletion chr12 rs5798218 - - 0.3897 intronic KRT77 Reference - - - - - - - - KRT77 chr12 53189414 53189431 CCAAAGCCACCAGCCCCT - 35/25(0.42) 1146 60 het nonframeshift deletion chr12 - - 0.072033 0.4657 exonic KRT3 Reference - - - - - - - - KRT3,NM_057088,exon1,c.396_413del,p.132_138del chr12 53207603 53207603 - AACCAGCTCCG 73/10(0.12) 198 83 het frameshift insertion chr12 - - - 0.0074 exonic KRT4 Reference - - - - - - - - KRT4,NM_002272,exon1,c.239_240insCGGAGCTGGTT,p.F80fs chr12 53343461 53343461 - C 0/174(1.00) 3070 174 hom unknown insertion chr12 - 0.59 - 0.4216 intronic KRT18;KRT8 Reference - - - - - - - - KRT18;KRT8 chr12 53452264 53452274 CAGGTGGCAGG - 0/61(1.00) 3070 61 hom unknown deletion chr12 rs66607805 0.83 0.505622 0.5074 intronic TENC1 Reference - - - - - - - - TENC1 chr12 53498784 53498784 A - 3/3(0.50) 37 6 het unknown deletion chr12 rs3215347 - - 0.1569 intronic SOAT2 Reference - - - - - - - - SOAT2 chr12 53567039 53567039 G - 16/19(0.54) 348 35 het unknown deletion chr12 rs67334572 - - 0.1961 intronic CSAD Reference - - - - - - - - CSAD chr12 53573499 53573499 - T 27/21(0.44) 357 48 het unknown insertion chr12 rs11401485 - 0.340153 0.2525 intronic CSAD Reference - - - - - - - - CSAD chr12 53664309 53664338 TTTGGGGTTGCTCCACTGCCCTCAAACAGC - 0/33(1.00) 1780 33 hom unknown deletion chr12 - - - 0.0686 intronic ESPL1 Reference - - - - - - - - ESPL1 chr12 53682268 53682269 AA - 51/42(0.45) 1557 93 het unknown deletion chr12 rs3080422 0.81 - 0.4657 intronic ESPL1 Reference - - - - - - - - ESPL1 chr12 53693278 53693278 G - 0/12(1.00) 398 12 hom unknown deletion chr12 rs56249432 0.99 - 0.3848 upstream;downstream C12orf10;PFDN5 Reference - - - - - - - - PFDN5;C12orf10 chr12 53715073 53715100 GTCCCCGACTCCGCCCCCATGCCTGTAG - 20/10(0.33) 427 30 het unknown deletion chr12 - - - 0.0343 intronic AAAS Reference - - - - - - - - AAAS chr12 53926424 53926424 A - 9/15(0.62) 113 24 het unknown deletion chr12 rs111391259 - - 0.2132 intronic ATF7 Reference - - - - - - - - ATF7 chr12 54070062 54070062 - TG 0/34(1.00) 2098 34 hom unknown insertion chr12 rs4020143 0.94 - 0.5098 5-UTR ATP5G2 Reference - - - - - - - - ATP5G2 chr12 54113699 54113699 G - 3/7(0.70) 316 10 het unknown deletion chr12 rs3832828 0.31 - 0.2623 intronic CALCOCO1 Reference - - - - - - - - CALCOCO1 chr12 54765006 54765009 CTAA - 0/14(1.00) 730 14 hom unknown deletion chr12 rs10534373 0.74 - 0.3922 intronic ZNF385A Reference - - - - - - - - ZNF385A chr12 54955545 54955545 - GT 3/18(0.86) 979 21 het unknown insertion chr12 rs3036634 - - 0.3260 intronic PDE1B Reference - - - - - - - - PDE1B chr12 55354877 55354877 A - 3/49(0.94) 713 52 hom unknown deletion chr12 rs5798332 - - 0.4044 intronic TESPA1 Reference - - - - - - - - TESPA1 chr12 55714406 55714406 - A 10/16(0.62) 889 26 het frameshift insertion chr12 - 0.35 0.345208 0.3333 exonic OR6C1 Reference - - - - - - - - OR6C1,NM_001005182,exon1,c.24dupA,p.T8fs chr12 55759192 55759192 T - 29/33(0.53) 742 62 het frameshift deletion chr12 rs75456529 - - 0.1225 exonic OR6C75 Reference - - - - - - - - OR6C75,NM_001005497,exon1,c.298delT,p.F100fs chr12 56097221 56097221 - ACAT 2/2(0.50) 73 4 het unknown insertion chr12 - - - - intronic ITGA7 Reference - - - - - - - - ITGA7 chr12 56295545 56295548 AAGT - 0/21(1.00) 1117 21 hom unknown deletion chr12 rs147424544 - 0.743654 0.4167 3-UTR WIBG Reference - - - - - - - - WIBG chr12 56551339 56551339 - AAA 21/20(0.49) 635 41 het unknown insertion chr12 - - 0.297923 0.4069 intronic MYL6B Reference - - - - - - - - MYL6B chr12 56564057 56564060 TTTT - 0/19(1.00) 770 19 hom unknown deletion chr12 rs60041436 0.97 - 0.4926 intronic SMARCC2 Reference - - - - - - - - SMARCC2 chr12 56604417 56604418 AT - 0/18(1.00) 951 18 hom unknown deletion chr12 rs10532115 - - 0.5245 intronic RNF41 Reference - - - - - - - - RNF41 chr12 56818983 56818983 - T 0/24(1.00) 1313 24 hom unknown insertion chr12 rs35382350 - 0.404105 0.3407 intronic TIMELESS Reference - - - - - - - - TIMELESS chr12 56869577 56869577 - T 0/42(1.00) 2602 42 hom unknown insertion chr12 - 0.73 - 0.4216 intronic GLS2 Reference - - - - - - - - GLS2 chr12 56869949 56869949 - T 0/13(1.00) 364 13 hom unknown insertion chr12 - 0.72 - 0.3456 intronic GLS2 Reference - - - - - - - - GLS2 chr12 57132187 57132187 T - 0/30(1.00) 1297 30 hom unknown deletion chr12 rs56401813 0.74 0.589365 0.3701 intronic PRIM1 Reference - - - - - - - - PRIM1 chr12 57140456 57140461 ACACAA - 1/4(0.80) 145 5 het unknown deletion chr12 - - - 0.0564 intronic PRIM1 Reference - - - - - - - - PRIM1 chr12 57140458 57140461 ACAA - 1/4(0.80) 145 5 het unknown deletion chr12 rs63023761 0.72 - 0.1127 intronic PRIM1 Reference - - - - - - - - PRIM1 chr12 57351301 57351309 CTGTTCAGA - 12/14(0.54) 654 26 het unknown deletion chr12 - - - 0.0098 5-UTR RDH16 Reference - - - - - - - - RDH16 chr12 57464685 57464685 - A 15/9(0.38) 396 24 het unknown insertion chr12 - 0.11 0.067812 0.0833 intronic TMEM194A Reference - - - - - - - - TMEM194A chr12 57588978 57588978 G - 101/69(0.41) 2662 170 het unknown deletion chr12 rs1799739 0.42 - 0.4289 intronic LRP1 Reference - - - - - - - - LRP1 chr12 57691991 57691991 C - 3/7(0.70) 316 10 het unknown deletion chr12 rs34608793 0.53 0.465898 0.2843 intronic R3HDM2 Reference - - - - - - - - R3HDM2 chr12 57704006 57704006 A - 0/52(1.00) 994 52 hom unknown deletion chr12 rs57612216 - - 0.4142 intronic R3HDM2 Reference - - - - - - - - R3HDM2 chr12 58150990 58150991 CA - 0/17(1.00) 896 17 hom unknown deletion chr12 rs35101706 - - 0.3971 intronic MARCH9 Reference - - - - - - - - MARCH9 chr12 58163305 58163305 T - 0/161(1.00) 3070 161 hom unknown deletion chr12 rs3216815 0.50 0.205990 0.3824 intronic METTL1 Reference - - - - - - - - METTL1 chr12 62883990 62883990 - T 0/16(1.00) 965 16 hom unknown insertion chr12 rs11393430 0.65 - 0.3309 intronic MON2 Reference - - - - - - - - MON2 chr12 62928748 62928748 A - 0/53(1.00) 1512 53 hom unknown deletion chr12 rs11364534 - 0.998562 0.4191 intronic MON2 Reference - - - - - - - - MON2 chr12 62931847 62931851 TTTGT - 14/7(0.33) 284 21 het unknown deletion chr12 rs147032464 0.37 0.356718 0.2475 intronic MON2 Reference - - - - - - - - MON2 chr12 63543552 63543553 TC - 6/5(0.45) 200 11 het unknown deletion chr12 - - - 0.0343 intronic AVPR1A Reference - - - - - - - - AVPR1A chr12 64485593 64485593 - CC 0/22(1.00) 1342 22 hom unknown insertion chr12 rs74804240 - - 0.3971 intronic SRGAP1 Reference - - - - - - - - SRGAP1 chr12 64858100 64858100 - T 4/5(0.56) 57 9 het unknown insertion chr12 rs79222529 - 0.822702 0.3407 intronic TBK1 Reference - - - - - - - - TBK1 chr12 65462430 65462433 TGTG - 5/11(0.69) 519 16 het unknown deletion chr12 rs72022569 - - 0.0515 intronic WIF1 Reference - - - - - - - - WIF1 chr12 65639616 65639619 TTTT - 10/19(0.66) 681 29 het unknown deletion chr12 rs3217456 0.14 0.223351 0.0931 intronic LEMD3 Reference - - - - - - - - LEMD3 chr12 66856982 66856984 AAG - 1/8(0.89) 360 9 het unknown deletion chr12 rs144154456 0.10 - 0.1201 intronic GRIP1 Reference - - - - - - - - GRIP1 chr12 69119617 69119617 - GTT 4/4(0.50) 142 8 het unknown insertion chr12 - - - 0.0613 intronic NUP107 Reference - - - - - - - - NUP107 chr12 69594036 69594042 AGAGATA - 1/4(0.80) 165 5 het unknown deletion chr12 rs146704086 - - 0.0760 intergenic CPM;CPSF6 Reference - - - - - - - - CPM(dist=237016);CPSF6(dist=39275) chr12 69652336 69652336 - T 0/32(1.00) 853 32 hom unknown insertion chr12 - 0.72 0.694968 0.4314 intronic CPSF6 Reference - - - - - - - - CPSF6 chr12 69759552 69759552 T - 6/9(0.60) 179 15 het unknown deletion chr12 rs11286051 - - 0.3015 intronic YEATS4 Reference - - - - - - - - YEATS4 chr12 69985772 69985773 TT - 5/5(0.50) 131 10 het unknown deletion chr12 rs137875319 0.65 - 0.3186 intronic CCT2 Reference - - - - - - - - CCT2 chr12 69991569 69991570 AT - 12/11(0.48) 444 23 het unknown deletion chr12 rs3217625 0.26 0.174497 0.2083 intronic CCT2 Reference - - - - - - - - CCT2 chr12 70088086 70088087 GT - 0/33(1.00) 1780 33 hom unknown deletion chr12 rs3050191 0.43 - 0.3382 intronic BEST3 Reference - - - - - - - - BEST3 chr12 70206895 70206897 TAG - 0/13(1.00) 651 13 hom unknown deletion chr12 rs1305051 0.41 - 0.2770 intronic RAB3IP Reference - - - - - - - - RAB3IP chr12 70209122 70209123 TC - 0/39(1.00) 2111 39 hom unknown deletion chr12 rs139555957 0.42 0.062300 0.3235 intronic RAB3IP Reference - - - - - - - - RAB3IP chr12 70352199 70352199 T - 0/30(1.00) 555 30 hom unknown deletion chr12 rs35912210 - - 0.3382 intergenic RAB3IP;CNOT2 Reference - - - - - - - - RAB3IP(dist=135215);CNOT2(dist=284575) chr12 70931787 70931787 - T 3/4(0.57) 65 7 het unknown insertion chr12 rs3214594 0.50 - 0.2696 intronic PTPRB Reference - - - - - - - - PTPRB chr12 70938280 70938282 GAG - 50/43(0.46) 2055 93 het unknown deletion chr12 rs10531402 0.25 - 0.2402 intronic PTPRB Reference - - - - - - - - PTPRB chr12 71029366 71029369 AAAC - 10/6(0.38) 244 16 het unknown deletion chr12 rs143061370 - - 0.2549 intronic PTPRB Reference - - - - - - - - PTPRB chr12 71050694 71050694 - A 4/11(0.73) 479 15 het unknown insertion chr12 rs5798997 0.35 - 0.2426 intronic PTPRR Reference - - - - - - - - PTPRR chr12 71523200 71523201 AA - 10/7(0.41) 31 17 het unknown deletion chr12 rs143821581 - - 0.2255 intronic TSPAN8 Reference - - - - - - - - TSPAN8 chr12 72019989 72019989 - AC 5/38(0.88) 2196 43 het unknown insertion chr12 rs143954407 - - 0.3578 intronic ZFC3H1 Reference - - - - - - - - ZFC3H1 chr12 72023337 72023338 AC - 4/4(0.50) 157 8 het unknown deletion chr12 - - - 0.2328 intronic ZFC3H1 Reference - - - - - - - - ZFC3H1 chr12 72332924 72332926 TCT - 0/102(1.00) 3070 102 hom unknown deletion chr12 rs140217163 0.16 0.118450 0.1373 intronic TPH2 Reference - - - - - - - - TPH2 chr12 75816814 75816814 - ACA 10/10(0.50) 530 20 het nonframeshift insertion chr12 rs144850646 - 0.353890 0.3995 exonic GLIPR1L2 Reference - - - - - - - - GLIPR1L2,NM_152436,exon4,c.715_716insACA,p.D239delinsDN chr12 75900396 75900396 C - 5/4(0.44) 154 9 het unknown deletion chr12 rs140710432 - - - intronic KRR1 Reference - - - - - - - - KRR1 chr12 76424938 76424940 TGC - 0/49(1.00) 2638 49 hom nonframeshift deletion chr12 rs71716769 - - 0.6201 exonic PHLDA1 Reference - - - - - - - - PHLDA1,NM_007350,exon1,c.582_584del,p.194_195del chr12 76450084 76450084 - T 6/4(0.40) 182 10 het unknown insertion chr12 - - - 0.0221 intronic NAP1L1 Reference - - - - - - - - NAP1L1 chr12 77239421 77239424 AAAT - 0/11(1.00) 565 11 hom unknown deletion chr12 rs143729859 0.72 - 0.3235 intronic ZDHHC17 Reference - - - - - - - - ZDHHC17 chr12 77254208 77254208 A - 0/127(1.00) 3070 127 hom unknown deletion chr12 rs35557984 - - 0.4289 intronic CSRP2 Reference - - - - - - - - CSRP2 chr12 78542602 78542602 - T 12/10(0.45) 250 22 het unknown insertion chr12 rs35689968 0.48 - 0.3358 intronic NAV3 Reference - - - - - - - - NAV3 chr12 78592993 78593007 TGGGAACATTATTAC - 11/6(0.35) 242 17 het unknown deletion chr12 rs11272983 - - 0.3186 intronic NAV3 Reference - - - - - - - - NAV3 chr12 78593071 78593075 AATTT - 3/5(0.62) 212 8 het unknown deletion chr12 rs140965470 0.70 0.172811 0.3039 intronic NAV3 Reference - - - - - - - - NAV3 chr12 80746234 80746234 - AAT 0/22(1.00) 1342 22 hom unknown insertion chr12 rs147703967 - 0.993750 0.3799 intronic OTOGL Reference - - - - - - - - OTOGL chr12 80750741 80750741 - A 1/31(0.97) 1033 32 hom unknown insertion chr12 rs5799468 - 0.715041 0.3873 intronic OTOGL Reference - - - - - - - - OTOGL chr12 80760471 80760471 T - 0/12(1.00) 391 12 hom unknown deletion chr12 rs34113015 0.99 0.931232 0.3162 intronic OTOGL Reference - - - - - - - - OTOGL chr12 80762163 80762163 - C 1/13(0.93) 110 14 het unknown insertion chr12 - - - 0.0098 intronic OTOGL Reference - - - - - - - - OTOGL chr12 80762163 80762163 - CC 1/13(0.93) 110 14 het unknown insertion chr12 rs144864235 - - 0.4020 intronic OTOGL Reference - - - - - - - - OTOGL chr12 82828426 82828426 - ATAAG 0/64(1.00) 3070 64 hom unknown insertion chr12 rs10683876 - - 0.4314 intronic METTL25 Reference - - - - - - - - METTL25 chr12 85408489 85408489 A - 8/8(0.50) 284 16 het unknown deletion chr12 rs3835146 0.19 - 0.2206 intronic TSPAN19 Reference - - - - - - - - TSPAN19 chr12 85500507 85500507 A - 4/6(0.60) 187 10 het unknown deletion chr12 rs147746243 0.19 - 0.2206 intronic LRRIQ1 Reference - - - - - - - - LRRIQ1 chr12 88483273 88483273 A - 0/27(1.00) 745 27 hom unknown deletion chr12 rs10717563 - 0.872184 0.3995 intronic CEP290 Reference - - - - - - - - CEP290 chr12 88522823 88522823 - C 0/24(1.00) 1468 24 hom unknown insertion chr12 rs71082425 - - 0.3725 intronic CEP290 Reference - - - - - - - - CEP290 chr12 89919631 89919632 CC - 3/3(0.50) 30 6 het unknown deletion chr12 rs145526963 - 0.220850 0.1250 intronic POC1B;POC1B-GALNT4 Reference - - - - - - - - POC1B;POC1B-GALNT4 chr12 90015579 90015579 - A 6/9(0.60) 90 15 het unknown insertion chr12 rs35089871 - 0.582799 0.3431 intronic ATP2B1 Reference - - - - - - - - ATP2B1 chr12 93155400 93155411 AAGAAAGAAAGA - 6/7(0.54) 307 13 het unknown deletion chr12 - - - 0.0833 intronic PLEKHG7 Reference - - - - - - - - PLEKHG7 chr12 93247775 93247775 - ATA 5/3(0.38) 124 8 het unknown insertion chr12 rs3065021 0.94 0.581732 0.3529 intronic EEA1 Reference - - - - - - - - EEA1 chr12 93322848 93322848 A - 49/44(0.47) 1729 93 het unknown deletion chr12 rs141329685 0.05 0.014384 0.0245 5-UTR EEA1 Reference - - - - - - - - EEA1 chr12 94563134 94563134 - T 0/18(1.00) 593 18 hom unknown insertion chr12 rs147633515 0.90 - 0.3873 intronic PLXNC1 Reference - - - - - - - - PLXNC1 chr12 94697489 94697489 A - 12/4(0.25) 125 16 het unknown deletion chr12 - - - - intronic PLXNC1 Reference - - - - - - - - PLXNC1 chr12 95500699 95500700 AA - 0/5(1.00) 77 5 het unknown deletion chr12 rs200338940 - - 0.0637 intronic FGD6 Reference - - - - - - - - FGD6 chr12 95500700 95500700 - AAC het unknown insertion chr12 rs10694512 - - 0.1348 intronic FGD6 Reference - - - - - - - - FGD6 chr12 96063948 96063951 GTTA - 7/14(0.67) 649 21 het unknown deletion chr12 rs147759356 0.04 0.237856 0.0564 ncRNA_intronic PGAM1P5 Reference - - - - - - - - PGAM1P5 chr12 96253003 96253003 - G 6/5(0.45) 226 11 het unknown insertion chr12 rs76505720 0.74 - 0.3505 intronic SNRPF Reference - - - - - - - - SNRPF chr12 96292280 96292280 - AAAC 43/31(0.42) 1680 74 het unknown insertion chr12 rs149620412 - 0.184665 0.0441 intronic CCDC38 Reference - - - - - - - - CCDC38 chr12 96356048 96356048 - AC 0/14(1.00) 839 14 hom unknown insertion chr12 rs112878109 0.94 - 0.4314 intronic AMDHD1 Reference - - - - - - - - AMDHD1 chr12 96356280 96356280 - C 0/40(1.00) 2349 40 hom unknown insertion chr12 rs80327481 0.95 0.684744 0.5221 intronic AMDHD1 Reference - - - - - - - - AMDHD1 chr12 96691355 96691355 - A 1/4(0.80) 197 5 het unknown insertion chr12 rs5800246 0.59 0.434449 0.3064 intronic CDK17 Reference - - - - - - - - CDK17 chr12 96704959 96704959 A - 8/10(0.56) 56 18 het unknown deletion chr12 rs11285567 - - 0.2549 intronic CDK17 Reference - - - - - - - - CDK17 chr12 97102701 97102704 TATA - 3/4(0.57) 160 7 het unknown deletion chr12 rs111245713 0.23 - 0.1642 intergenic CDK17;NEDD1 Reference - - - - - - - - CDK17(dist=308335);NEDD1(dist=198297) chr12 97303683 97303683 A - 1/21(0.95) 298 22 hom unknown deletion chr12 rs34499067 - - 0.4044 intronic NEDD1 Reference - - - - - - - - NEDD1 chr12 99020689 99020692 GACA - 2/6(0.75) 267 8 het unknown deletion chr12 rs148210292 0.51 - 0.2402 intronic IKBIP Reference - - - - - - - - IKBIP chr12 100806411 100806411 - A 5/6(0.55) 76 11 het unknown insertion chr12 rs138819500 - - 0.1225 intronic SLC17A8 Reference - - - - - - - - SLC17A8 chr12 101473110 101473110 C - 0/75(1.00) 1925 75 hom unknown deletion chr12 rs34514121 - 0.396932 0.4044 intronic ANO4 Reference - - - - - - - - ANO4 chr12 101520648 101520648 - TG 49/40(0.45) 2211 89 het unknown insertion chr12 - 0.33 0.488019 0.3480 intronic ANO4 Reference - - - - - - - - ANO4 chr12 101581318 101581319 AA - 0/38(1.00) 1584 38 hom unknown deletion chr12 rs143975688 0.52 0.255112 0.4142 intronic SLC5A8 Reference - - - - - - - - SLC5A8 chr12 101705433 101705433 - C 2/10(0.83) 530 12 het unknown insertion chr12 rs143563308 - - 0.3505 intronic UTP20 Reference - - - - - - - - UTP20 chr12 102008102 102008105 GTGA - 4/4(0.50) 157 8 het unknown deletion chr12 rs139481306 - - 0.2059 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102025259 102025259 - GTGAC 0/27(1.00) 1657 27 hom unknown insertion chr12 - - - 0.2377 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102025261 102025261 G - 0/27(1.00) 1448 27 hom unknown deletion chr12 - - - 0.2279 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102041967 102041967 - A 14/10(0.42) 242 24 het unknown insertion chr12 - 0.65 0.626538 0.3897 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102046304 102046307 CTCT - 2/6(0.75) 264 8 het unknown deletion chr12 rs146038209 - - 0.1642 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102063901 102063901 - CACACA 0/3(1.00) 118 3 het unknown insertion chr12 - - - - intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102063901 102063901 - CACACACA 0/3(1.00) 118 3 het unknown insertion chr12 - - - 0.1299 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102063902 102063903 CA - 0/4(1.00) 148 4 het unknown deletion chr12 - - - 0.1176 intronic MYBPC1 Reference - - - - - - - - MYBPC1 chr12 102125453 102125457 ATAAA - 4/13(0.76) 626 17 het unknown deletion chr12 rs145003954 0.30 - 0.2721 intronic SYCP3 Reference - - - - - - - - SYCP3 chr12 102576307 102576307 - T 16/10(0.38) 92 26 het unknown insertion chr12 rs35297380 - - 0.2819 intronic PARPBP Reference - - - - - - - - PARPBP chr12 103352172 103352174 GCA - 9/3(0.25) 90 12 het nonframeshift deletion chr12 - - 0.095035 0.0123 exonic ASCL1 Reference - - - - - - - - ASCL1,NM_004316,exon1,c.150_152del,p.50_51del chr12 104014403 104014404 AC - 2/4(0.67) 139 6 het unknown deletion chr12 rs59518169 - - 0.0980 intronic STAB2 Reference - - - - - - - - STAB2 chr12 104071159 104071162 TCTC - 17/11(0.39) 484 28 het unknown deletion chr12 rs72177976 0.39 - 0.3456 intronic STAB2 Reference - - - - - - - - STAB2 chr12 104086736 104086736 - T 24/17(0.41) 212 41 het unknown insertion chr12 rs11440653 - - 0.2377 intronic STAB2 Reference - - - - - - - - STAB2 chr12 104131352 104131352 - TCTC 1/5(0.83) 270 6 het unknown insertion chr12 - - - 0.0221 intronic STAB2 Reference - - - - - - - - STAB2 chr12 104131403 104131403 C - 10/5(0.33) 180 15 het unknown deletion chr12 - - - 0.0172 intronic STAB2 Reference - - - - - - - - STAB2 chr12 104131407 104131407 C - 15/4(0.21) 122 19 het unknown deletion chr12 - - - - intronic STAB2 Reference - - - - - - - - STAB2 chr12 104152227 104152227 - GGGT 7/5(0.42) 239 12 het unknown insertion chr12 rs3834932 0.09 - 0.1127 intronic STAB2 Reference - - - - - - - - STAB2 chr12 104335751 104335752 AA - 0/45(1.00) 1883 45 hom unknown deletion chr12 rs58392270 - - 0.4461 intronic HSP90B1 Reference - - - - - - - - HSP90B1 chr12 104341188 104341190 GAA - 67/50(0.43) 2350 117 het nonframeshift deletion chr12 rs5800607 0.31 0.106070 0.2990 exonic HSP90B1 Reference - - - - - - - - HSP90B1,NM_003299,exon17,c.2362_2364del,p.788_788del chr12 104345412 104345412 - A 27/33(0.55) 819 60 het unknown insertion chr12 rs3830654 - 0.397267 0.3211 intronic C12orf73 Reference - - - - - - - - C12orf73 chr12 104496721 104496721 - C 12/6(0.33) 74 18 het unknown insertion chr12 - - 0.063758 0.1765 intronic HCFC2 Reference - - - - - - - - HCFC2 chr12 104995800 104995800 - T 3/39(0.93) 668 42 hom unknown insertion chr12 rs5800627 - 0.629473 0.4069 intronic CHST11 Reference - - - - - - - - CHST11 chr12 105260159 105260159 - AC 1/4(0.80) 173 5 het unknown insertion chr12 - - - - intronic SLC41A2 Reference - - - - - - - - SLC41A2 chr12 105534604 105534607 AATC - 6/5(0.45) 203 11 het unknown deletion chr12 rs151106726 0.25 - 0.2010 intronic KIAA1033 Reference - - - - - - - - KIAA1033 chr12 105538665 105538665 - T 8/10(0.56) 222 18 het unknown insertion chr12 - 0.25 0.117828 0.2279 intronic KIAA1033 Reference - - - - - - - - KIAA1033 chr12 105541047 105541047 T - 10/6(0.38) 88 16 het unknown deletion chr12 rs3215374 - - 0.2279 intronic KIAA1033 Reference - - - - - - - - KIAA1033 chr12 106500158 106500161 GTTA GTA het unknown substitution chr12 - - - - intronic NUAK1 Reference - - - - - - - - NUAK1 chr12 106500160 106500161 TA - 5/40(0.89) 107 45 het unknown deletion chr12 - - - 0.0686 intronic NUAK1 Reference - - - - - - - - NUAK1 chr12 107078562 107078562 - AAG 0/57(1.00) 3070 57 hom unknown insertion chr12 rs5800715 - 0.633792 0.3897 ncRNA_UTR5 RFX4 Reference - - - - - - - - RFX4 chr12 107080618 107080620 TTT - 0/19(1.00) 239 19 hom unknown deletion chr12 rs56287989 - - 0.1936 ncRNA_intronic LOC100287944 Reference - - - - - - - - LOC100287944 chr12 107080639 107080640 CC - 0/25(1.00) 1074 25 hom unknown deletion chr12 rs55658229 - - 0.2083 ncRNA_intronic LOC100287944 Reference - - - - - - - - LOC100287944 chr12 107714310 107714310 - C 11/17(0.61) 748 28 het unknown insertion chr12 rs11406575 0.72 - 0.3456 intronic BTBD11 Reference - - - - - - - - BTBD11 chr12 107937936 107937936 - CCTTT 0/53(1.00) 3070 53 hom unknown insertion chr12 rs143266875 0.18 - 0.1593 intronic BTBD11 Reference - - - - - - - - BTBD11 chr12 108034391 108034391 A - 3/3(0.50) 108 6 het unknown deletion chr12 - - - 0.0172 intronic BTBD11 Reference - - - - - - - - BTBD11 chr12 108079521 108079521 G - 5/6(0.55) 258 11 het unknown deletion chr12 - - - - upstream PWP1 Reference - - - - - - - - PWP1 chr12 108913378 108913378 T - 2/5(0.71) 158 7 het unknown deletion chr12 rs5800830 0.46 - 0.2353 3-UTR FICD Reference - - - - - - - - FICD chr12 108918437 108918438 CT - 4/3(0.43) 105 7 het unknown deletion chr12 rs141257818 0.23 - 0.1936 intronic SART3 Reference - - - - - - - - SART3 chr12 108956526 108956526 - G 0/62(1.00) 3070 62 hom unknown insertion chr12 - - 0.998683 0.5245 intronic ISCU Reference - - - - - - - - ISCU chr12 109017651 109017680 GAGTGGTCTGTGCCTCCGTGGGCACTGGTT - 0/102(1.00) 3070 102 hom nonframeshift deletion chr12 - - 0.153539 0.0539 exonic SELPLG Reference - - - - - - - - SELPLG,NM_003006,exon2,c.404_433del,p.135_145del;SELPLG,NM_001206609,exon2,c.452_481del,p.151_161del chr12 109183144 109183144 - T 3/6(0.67) 311 9 het unknown insertion chr12 - 0.32 - 0.2451 intronic SSH1 Reference - - - - - - - - SSH1 chr12 109217007 109217007 - T 14/11(0.44) 577 25 het unknown insertion chr12 - 0.36 0.207012 0.3211 intronic SSH1 Reference - - - - - - - - SSH1 chr12 109490426 109490426 - CGGCGG 6/9(0.60) 482 15 het unknown insertion chr12 rs140371213 - - 0.4118 ncRNA_exonic USP30-AS1 Reference - - - - - - - - USP30-AS1 chr12 109530278 109530278 - CA 37/24(0.39) 1241 61 het unknown insertion chr12 rs145676752 - 0.460844 0.3505 intronic ALKBH2 Reference - - - - - - - - ALKBH2 chr12 109625977 109625984 TCCTTCCT - 1/11(0.92) 527 12 het unknown deletion chr12 - - - 0.0956 intronic ACACB Reference - - - - - - - - ACACB chr12 109831380 109831383 CCGC - 13/2(0.13) 32 15 het unknown deletion chr12 - - - - intronic MYO1H Reference - - - - - - - - MYO1H chr12 109845778 109845778 - ATT 32/38(0.54) 2143 70 het unknown insertion chr12 rs75978659 - 0.526425 0.3603 intronic MYO1H Reference - - - - - - - - MYO1H chr12 109847116 109847116 - G 4/3(0.43) 128 7 het unknown insertion chr12 rs34186515 - - 0.2426 intronic MYO1H Reference - - - - - - - - MYO1H chr12 109849552 109849552 - CT 16/9(0.36) 451 25 het unknown insertion chr12 rs5800859 - - 0.2917 intronic MYO1H Reference - - - - - - - - MYO1H chr12 109863722 109863723 TC - 24/16(0.40) 724 40 het unknown deletion chr12 rs67083809 0.33 0.335888 0.3235 intronic MYO1H Reference - - - - - - - - MYO1H chr12 109879690 109879691 AA - 11/4(0.27) 86 15 het unknown deletion chr12 rs66541837 0.33 - 0.2549 intronic MYO1H Reference - - - - - - - - MYO1H chr12 111351003 111351003 - G 0/81(1.00) 3070 81 hom unknown insertion chr12 rs200568920 0.21 0.066374 0.2500 intronic MYL2 Reference - - - - - - - - MYL2 chr12 111351030 111351030 C - 0/79(1.00) 3070 79 hom unknown deletion chr12 rs3833910 0.22 - 0.2647 intronic MYL2 Reference - - - - - - - - MYL2 chr12 111351963 111351963 - AC 18/67(0.79) 3070 85 het unknown insertion chr12 rs142567411 - - 0.2279 intronic MYL2 Reference - - - - - - - - MYL2 chr12 111800827 111800835 GCCACCCCC - 0/14(1.00) 730 14 hom nonframeshift deletion chr12 rs139032867 0.68 0.158761 0.3971 exonic FAM109A Reference - - - - - - - - FAM109A,NM_144671,exon3,c.397_405del,p.133_135del;FAM109A,NM_001177997,exon3,c.397_405del,p.133_135del;FAM109A,NM_001177996,exon4,c.436_444del,p.146_148del chr12 111885352 111885356 TGGGG - 0/17(1.00) 884 17 hom unknown deletion chr12 rs111340708 0.87 - 0.3873 intronic SH2B3 Reference - - - - - - - - SH2B3 chr12 112222867 112222867 C - 5/2(0.29) 32 7 het unknown deletion chr12 rs3832868 0.59 - 0.3088 intronic ALDH2 Reference - - - - - - - - ALDH2 chr12 112280746 112280749 GTGG - 6/9(0.60) 412 15 het unknown deletion chr12 rs138881887 0.59 - 0.3701 intronic MAPKAPK5 Reference - - - - - - - - MAPKAPK5 chr12 112451190 112451190 - C 0/27(1.00) 907 27 hom unknown insertion chr12 - - - 0.4118 5-UTR ERP29 Reference - - - - - - - - ERP29 chr12 112638688 112638688 - GT 0/2(1.00) 59 2 het unknown insertion chr12 - - - 0.0123 intronic HECTD4 Reference - - - - - - - - HECTD4 chr12 112638688 112638688 - GTGTGT 0/2(1.00) 59 2 het unknown insertion chr12 - - - 0.1789 intronic HECTD4 Reference - - - - - - - - HECTD4 chr12 112712510 112712514 AAACA - 0/20(1.00) 1062 20 hom unknown deletion chr12 rs200991188 - - 0.3064 intronic HECTD4 Reference - - - - - - - - HECTD4 chr12 113369716 113369716 A - 0/25(1.00) 1338 25 hom unknown deletion chr12 rs11352835 0.78 - 0.4461 intergenic OAS1;OAS3 Reference - - - - - - - - OAS3(dist=6533);OAS1(dist=12004) chr12 113387034 113387034 - G 0/30(1.00) 1154 30 hom unknown insertion chr12 rs3214199 - 0.533918 0.4755 intronic OAS3 Reference - - - - - - - - OAS3 chr12 113530845 113530845 - AG 34/26(0.43) 1416 60 het unknown insertion chr12 rs35635461 0.83 - 0.4093 intronic DTX1 Reference - - - - - - - - DTX1 chr12 113566050 113566050 - AC 1/3(0.75) 139 4 het unknown insertion chr12 - - - 0.0809 intronic RASAL1 Reference - - - - - - - - RASAL1 chr12 113605672 113605672 - GGCCCTGGGCA 39/29(0.43) 1579 68 het unknown insertion chr12 rs113725144 0.25 - 0.2181 intronic DDX54 Reference - - - - - - - - DDX54 chr12 113715891 113715891 - CCCA 51/36(0.41) 1963 87 het unknown insertion chr12 rs3217307 - - 0.1814 intronic TPCN1 Reference - - - - - - - - TPCN1 chr12 114282321 114282321 - G 9/11(0.55) 464 20 het unknown insertion chr12 - 0.33 - 0.2672 intronic RBM19 Reference - - - - - - - - RBM19 chr12 117158457 117158458 CT - 4/6(0.60) 261 10 het unknown deletion chr12 rs143284679 0.39 - 0.2941 intronic C12orf49 Reference - - - - - - - - C12orf49 chr12 117175346 117175346 G - 0/19(1.00) 977 19 hom unknown deletion chr12 - - - 0.1936 intronic C12orf49 Reference - - - - - - - - C12orf49 chr12 117175349 117175356 GAAGGTAA - 0/21(1.00) 1060 21 hom unknown deletion chr12 - - - 0.2623 intronic C12orf49 Reference - - - - - - - - C12orf49 chr12 117718473 117718473 - GGTAAAA 41/24(0.37) 1273 65 het unknown insertion chr12 rs11282297 - - 0.4926 intronic NOS1 Reference - - - - - - - - NOS1 chr12 117768107 117768107 - CACA het unknown insertion chr12 - - - - intronic NOS1 Reference - - - - - - - - NOS1 chr12 117768106 117768107 CA - 5/6(0.55) 277 11 het unknown deletion chr12 - - - 0.0172 intronic NOS1 Reference - - - - - - - - NOS1 chr12 118467458 118467458 G - 27/19(0.41) 707 46 het unknown deletion chr12 rs11331177 0.41 - 0.3064 intronic RFC5 Reference - - - - - - - - RFC5 chr12 118506328 118506333 TCCTCC - 35/36(0.51) 1598 71 het nonframeshift deletion chr12 rs72125532 - 0.246098 0.4314 exonic VSIG10 Reference - - - - - - - - VSIG10,NM_019086,exon8,c.1416_1421del,p.472_474del chr12 118589093 118589096 CGCA - 2/3(0.60) 90 5 het unknown deletion chr12 rs140297022 - - 0.1912 intronic TAOK3 Reference - - - - - - - - TAOK3 chr12 118673483 118673483 - A 1/19(0.95) 356 20 hom unknown insertion chr12 rs113638167 - - 0.2917 intronic TAOK3 Reference - - - - - - - - TAOK3 chr12 119563288 119563288 - C 41/35(0.46) 1527 76 het unknown insertion chr12 rs34186549 - 0.431161 0.4461 intronic SRRM4 Reference - - - - - - - - SRRM4 chr12 119591176 119591176 - C 3/5(0.62) 235 8 het unknown insertion chr12 - 0.51 - 0.2990 intronic SRRM4 Reference - - - - - - - - SRRM4 chr12 120196296 120196296 A - 4/6(0.60) 209 10 het unknown deletion chr12 rs35168868 0.48 - 0.2819 intronic CIT Reference - - - - - - - - CIT chr12 120427266 120427266 - GCAGCA 3/4(0.57) 171 7 het unknown insertion chr12 rs10687706 - - 0.0907 upstream CCDC64 Reference - - - - - - - - CCDC64 chr12 120741313 120741313 - AA 13/10(0.43) 56 23 het unknown insertion chr12 - - - 0.1103 intronic SIRT4 Reference - - - - - - - - SIRT4 chr12 120783836 120783836 - C 1/2(0.67) 71 3 het unknown insertion chr12 - 0.11 - 0.1005 intronic MSI1 Reference - - - - - - - - MSI1 chr12 120806129 120806129 - T 2/4(0.67) 194 6 het unknown insertion chr12 rs111293994 0.55 0.780964 0.1740 intronic MSI1 Reference - - - - - - - - MSI1 chr12 120882836 120882837 AC - 3/6(0.67) 264 9 het unknown deletion chr12 rs3858722 0.47 - 0.2819 intronic TRIAP1 Reference - - - - - - - - TRIAP1 chr12 121017475 121017475 T - 33/27(0.45) 1271 60 het unknown deletion chr12 rs3833953 0.48 - 0.4044 intronic POP5 Reference - - - - - - - - POP5 chr12 121093630 121093635 GTGCGT - 15/10(0.40) 438 25 het unknown deletion chr12 rs112935060 - - 0.3676 intronic CABP1 Reference - - - - - - - - CABP1 chr12 121176803 121176803 - C 32/16(0.33) 636 48 het unknown insertion chr12 rs151278947 0.13 - 0.1789 intronic ACADS Reference - - - - - - - - ACADS chr12 121434630 121434630 - TCATTCAT 0/31(1.00) 1834 31 hom unknown insertion chr12 rs111633572 - - 0.4289 intronic HNF1A Reference - - - - - - - - HNF1A chr12 121444026 121444026 G - 0/10(1.00) 479 10 hom unknown deletion chr12 - - - 0.0466 intronic C12orf43 Reference - - - - - - - - C12orf43 chr12 122064774 122064779 CCGCCA - 1/39(0.97) 2127 40 hom nonframeshift deletion chr12 rs141919534 0.93 - 0.3897 exonic ORAI1 Reference - - - - - - - - ORAI1,NM_032790,exon1,c.127_132del,p.43_44del chr12 122097047 122097047 - CA het unknown insertion chr12 - - - - intronic MORN3 Reference - - - - - - - - MORN3 chr12 122097044 122097047 CACA - 8/6(0.43) 273 14 het unknown deletion chr12 rs63632160 - - 0.1373 intronic MORN3 Reference - - - - - - - - MORN3 chr12 122217856 122217856 - GT 0/29(1.00) 1747 29 hom unknown insertion chr12 rs140557359 - - 0.3946 3-UTR TMEM120B Reference - - - - - - - - TMEM120B chr12 122359397 122359397 - GAGGAGGAGGAGAAA 35/27(0.44) 1449 62 het nonframeshift insertion chr12 rs142042908 - - 0.3995 exonic WDR66 Reference - - - - - - - - WDR66,NM_144668,exon2,c.186_187insGAGGAGGAGGAGAAA,p.G62delinsGEEEEK;WDR66,NM_001178003,exon2,c.186_187insGAGGAGGAGGAGAAA,p.G62delinsGEEEEK chr12 122619529 122619529 T - 0/15(1.00) 397 15 hom unknown deletion chr12 rs11287019 0.49 - 0.2990 intronic MLXIP Reference - - - - - - - - MLXIP chr12 122622208 122622208 T - 0/102(1.00) 3070 102 hom unknown deletion chr12 rs11307581 0.49 - 0.3922 intronic MLXIP Reference - - - - - - - - MLXIP chr12 122723318 122723319 AC - 18/5(0.22) 168 23 het unknown deletion chr12 - - - 0.0098 intronic VPS33A Reference - - - - - - - - VPS33A chr12 122995469 122995469 A - 4/6(0.60) 261 10 het unknown deletion chr12 rs10709275 0.85 - 0.3554 intronic RSRC2 Reference - - - - - - - - RSRC2 chr12 122999359 122999359 A - 8/10(0.56) 106 18 het unknown deletion chr12 rs11322682 - - 0.2770 intronic RSRC2 Reference - - - - - - - - RSRC2 chr12 123340453 123340453 - C 0/19(1.00) 1153 19 hom unknown insertion chr12 rs11418615 - 0.842084 0.3848 intronic HIP1R Reference - - - - - - - - HIP1R chr12 123342629 123342633 CTCTT - 0/23(1.00) 1227 23 hom unknown deletion chr12 rs34131980 0.75 0.829429 0.4706 intronic HIP1R Reference - - - - - - - - HIP1R chr12 123343572 123343572 - GC 0/80(1.00) 3070 80 hom unknown insertion chr12 rs139779747 - 0.744402 0.4387 intronic HIP1R Reference - - - - - - - - HIP1R chr12 123345756 123345756 - C 0/83(1.00) 3070 83 hom unknown insertion chr12 rs80246891 0.75 0.829712 0.5172 intronic HIP1R Reference - - - - - - - - HIP1R chr12 123810662 123810662 - C 0/37(1.00) 1640 37 hom unknown insertion chr12 rs111400678 0.74 0.960783 0.4069 intronic SBNO1 Reference - - - - - - - - SBNO1 chr12 123816007 123816007 - ATGTTG 0/21(1.00) 1282 21 hom unknown insertion chr12 rs11282939 0.73 - 0.3848 intronic SBNO1 Reference - - - - - - - - SBNO1 chr12 123832711 123832711 A - 1/63(0.98) 2595 64 hom unknown deletion chr12 rs11325003 0.73 0.961102 0.3971 intronic SBNO1 Reference - - - - - - - - SBNO1 chr12 124069112 124069114 GGC - 0/14(1.00) 730 14 hom unknown deletion chr12 rs71088937 - - 0.3407 5-UTR TMED2 Reference - - - - - - - - TMED2 chr12 124071238 124071238 - A 1/3(0.75) 118 4 het unknown insertion chr12 - 0.02 - 0.0196 intronic TMED2 Reference - - - - - - - - TMED2 chr12 124071508 124071508 T - 19/17(0.47) 611 36 het unknown deletion chr12 rs11289530 0.02 0.163978 0.0270 intronic TMED2 Reference - - - - - - - - TMED2 chr12 124090606 124090607 CT - 53/36(0.40) 1678 89 het unknown deletion chr12 rs4047521 0.98 0.824601 0.5662 intronic DDX55 Reference - - - - - - - - DDX55 chr12 124172218 124172222 AAAGT - 1/4(0.80) 165 5 het unknown deletion chr12 rs10600469 0.05 - 0.0588 intronic TCTN2 Reference - - - - - - - - TCTN2 chr12 124362256 124362256 - G 4/5(0.56) 91 9 het unknown insertion chr12 rs113178558 - 0.499744 0.2696 intronic DNAH10 Reference - - - - - - - - DNAH10 chr12 124363725 124363728 TGTC - 0/13(1.00) 675 13 hom unknown deletion chr12 rs72053758 - - 0.3407 intronic DNAH10 Reference - - - - - - - - DNAH10 chr12 124366151 124366151 T - 8/23(0.74) 223 31 het unknown deletion chr12 rs34756279 - - 0.2157 intronic DNAH10 Reference - - - - - - - - DNAH10 chr12 124398843 124398843 - CTG 45/43(0.49) 2403 88 het unknown insertion chr12 rs113172657 0.27 0.310095 0.2966 intronic DNAH10 Reference - - - - - - - - DNAH10 chr12 124824721 124824721 - GCCGCTGCT 0/42(1.00) 2585 42 hom nonframeshift insertion chr12 rs143952466 - - 0.3995 exonic NCOR2 Reference - - - - - - - - NCOR2,NM_001206654,exon38,c.5487_5488insAGCAGCGGC,p.G1830delinsSSGG;NCOR2,NM_001077261,exon38,c.5487_5488insAGCAGCGGC,p.G1830delinsSSGG;NCOR2,NM_006312,exon39,c.5517_5518insAGCAGCGGC,p.G1840delinsSSGG chr12 124887058 124887058 - GCTGCT 4/11(0.73) 588 15 het nonframeshift insertion chr12 - - - 0.0784 exonic NCOR2 Reference - - - - - - - - NCOR2,NM_001206654,exon16,c.1528_1529insAGCAGC,p.P510delinsQQP;NCOR2,NM_001077261,exon16,c.1528_1529insAGCAGC,p.P510delinsQQP;NCOR2,NM_006312,exon16,c.1531_1532insAGCAGC,p.P511delinsQQP chr12 125279968 125279968 G - 2/4(0.67) 59 6 het unknown deletion chr12 rs3215351 - - 0.2181 intronic SCARB1 Reference - - - - - - - - SCARB1 chr12 131358701 131358701 - T 0/11(1.00) 399 11 hom unknown insertion chr12 rs113703742 0.18 - 0.1691 intronic RAN Reference - - - - - - - - RAN chr12 132398256 132398256 C - 8/9(0.53) 315 17 het unknown deletion chr12 rs201005910 - - 0.2941 intronic ULK1 Reference - - - - - - - - ULK1 chr12 132529726 132529727 TC - 7/3(0.30) 96 10 het unknown deletion chr12 rs35147913 0.03 - 0.0368 intronic EP400 Reference - - - - - - - - EP400 chr12 132547093 132547093 - CAG 6/19(0.76) 1081 25 het nonframeshift insertion chr12 - - - 0.0466 exonic EP400 Reference - - - - - - - - EP400,NM_015409,exon47,c.8181_8182insCAG,p.Q2727delinsQQ chr12 133147165 133147165 - G 2/6(0.75) 177 8 het unknown insertion chr12 rs3833800 0.18 0.144787 0.0980 intronic FBRSL1 Reference - - - - - - - - FBRSL1 chr12 133157836 133157838 CCT - 15/16(0.52) 750 31 het unknown deletion chr12 rs140655645 0.20 - 0.1667 intronic FBRSL1 Reference - - - - - - - - FBRSL1 chr12 133220652 133220652 - G 0/20(1.00) 1216 20 hom unknown insertion chr12 rs35552112 0.79 - 0.4657 intronic POLE Reference - - - - - - - - POLE chr12 133234390 133234391 AT - 1/32(0.97) 1661 33 hom unknown deletion chr12 rs5744884 0.68 - 0.3922 intronic POLE Reference - - - - - - - - POLE chr12 133357646 133357646 A - 13/12(0.48) 367 25 het unknown deletion chr12 rs35956026 0.19 - 0.1618 intronic GOLGA3 Reference - - - - - - - - GOLGA3 chr12 133378245 133378245 C - 23/12(0.34) 518 35 het unknown deletion chr12 rs149456851 0.52 - 0.3725 intronic GOLGA3 Reference - - - - - - - - GOLGA3 chr12 133398522 133398522 - GTCCTCCCTCAACACCAG 76/62(0.45) 3070 138 het unknown insertion chr12 - - - - intronic GOLGA3 Reference - - - - - - - - GOLGA3 chr12 133417982 133417982 - AA 9/5(0.36) 200 14 het unknown insertion chr12 rs139018442 - - 0.2034 3-UTR CHFR Reference - - - - - - - - CHFR chr13 19601130 19601130 A - 0/21(1.00) 571 21 hom unknown deletion chr13 rs35887366 0.91 - 0.3603 intergenic LINC00442;RNU6-52P Reference - - - - - - - - RNU6-52P(dist=115992);LINC00442(dist=14356) chr13 20056699 20056699 A - 23/8(0.26) 75 31 het unknown deletion chr13 - - - - intronic TPTE2 Reference - - - - - - - - TPTE2 chr13 20608354 20608354 - TTTCTTGAGGTG 0/19(1.00) 1154 19 hom unknown insertion chr13 rs11272380 - - 0.3799 intronic ZMYM2 Reference - - - - - - - - ZMYM2 chr13 20763486 20763486 G - 65/39(0.38) 1390 104 het frameshift deletion chr13 rs80338943 - - 0.0074 exonic GJB2 Reference - - - - - - - - GJB2,NM_004004,exon2,c.235delC,p.L79fs chr13 21013670 21013670 G - 7/20(0.74) 782 27 het unknown deletion chr13 rs67447038 - - 0.0833 intronic CRYL1 Reference - - - - - - - - CRYL1 chr13 21205125 21205125 G - 0/85(1.00) 3070 85 hom unknown deletion chr13 rs35290473 - 0.657109 0.4118 intronic IFT88 Reference - - - - - - - - IFT88 chr13 24468644 24468645 TG - 67/26(0.28) 1118 93 het unknown deletion chr13 rs150835167 0.38 - 0.3333 intronic C1QTNF9B Reference - - - - - - - - C1QTNF9B chr13 24868753 24868753 A - 0/30(1.00) 1354 30 hom unknown deletion chr13 rs34017703 0.91 - 0.4314 intronic SPATA13 Reference - - - - - - - - SPATA13 chr13 25021145 25021147 TCT - 0/23(1.00) 1227 23 hom unknown deletion chr13 rs78060735 0.97 - 0.4216 intronic PARP4 Reference - - - - - - - - PARP4 chr13 25341365 25341365 - ATC 16/13(0.45) 691 29 het unknown insertion chr13 rs142005435 - - 0.2157 intronic RNF17 Reference - - - - - - - - RNF17 chr13 25458233 25458235 GTT - 34/33(0.49) 1564 67 het unknown deletion chr13 rs34991318 - 0.465096 0.4730 intronic CENPJ Reference - - - - - - - - CENPJ chr13 25861197 25861197 A - 1/3(0.75) 88 4 het unknown deletion chr13 rs146458541 0.12 - 0.0980 intronic MTMR6 Reference - - - - - - - - MTMR6 chr13 25893364 25893369 TTTATA - 0/17(1.00) 896 17 hom unknown deletion chr13 rs59567333 0.92 - 0.3480 intronic NUPL1 Reference - - - - - - - - NUPL1 chr13 27997986 27997986 C - 0/54(1.00) 2939 54 hom unknown deletion chr13 rs33932496 0.79 - 0.4069 upstream GTF3A Reference - - - - - - - - GTF3A chr13 28494167 28494167 G - 6/6(0.50) 181 12 het unknown deletion chr13 rs146021107 0.44 - 0.2083 ncRNA_intronic PDX1-AS1 Reference - - - - - - - - PDX1-AS1 chr13 28602227 28602228 AG - 0/14(1.00) 730 14 hom unknown deletion chr13 rs60462219 - - 0.3529 intronic FLT3 Reference - - - - - - - - FLT3 chr13 28712740 28712740 - GGCGGCGGC 2/49(0.96) 2915 51 hom unknown insertion chr13 - - - 0.1446 ncRNA_exonic PAN3-AS1 Reference - - - - - - - - PAN3-AS1 chr13 28980150 28980150 - G 0/18(1.00) 1091 18 hom unknown insertion chr13 - - - 0.3578 intronic FLT1 Reference - - - - - - - - FLT1 chr13 29278063 29278063 - A 0/38(1.00) 1686 38 hom unknown insertion chr13 rs34444192 0.51 - 0.3676 intronic SLC46A3 Reference - - - - - - - - SLC46A3 chr13 30351248 30351248 - A 0/41(1.00) 2408 41 hom unknown insertion chr13 - 0.98 0.898882 0.4216 intronic UBL3 Reference - - - - - - - - UBL3 chr13 31540569 31540569 C - 10/5(0.33) 215 15 het unknown deletion chr13 - - - - intronic TEX26 Reference - - - - - - - - TEX26 chr13 31835269 31835269 C - 8/11(0.58) 510 19 het unknown deletion chr13 rs34409451 0.05 0.423896 0.0539 intronic B3GALTL Reference - - - - - - - - B3GALTL chr13 31843321 31843321 A - 9/4(0.31) 38 13 het unknown deletion chr13 rs3215787 - - 0.1863 intronic B3GALTL Reference - - - - - - - - B3GALTL chr13 32340193 32340193 - A 0/27(1.00) 810 27 hom unknown insertion chr13 rs77129735 0.96 0.894690 0.3652 intronic RXFP2 Reference - - - - - - - - RXFP2 chr13 32360691 32360691 - AAA 13/6(0.32) 53 19 het unknown insertion chr13 - - - 0.1225 intronic RXFP2 Reference - - - - - - - - RXFP2 chr13 33349233 33349233 - TTTT 4/4(0.50) 153 8 het unknown insertion chr13 - - - - 3-UTR PDS5B Reference - - - - - - - - PDS5B chr13 33349233 33349233 - TCTTTTT 4/4(0.50) 153 8 het unknown insertion chr13 - - - 0.0074 3-UTR PDS5B Reference - - - - - - - - PDS5B chr13 33686844 33686844 - A 32/35(0.52) 864 67 het unknown insertion chr13 - 0.28 0.194839 0.2525 intronic STARD13 Reference - - - - - - - - STARD13 chr13 33702144 33702151 AGATGGAG - 5/3(0.38) 102 8 het unknown deletion chr13 rs113124623 0.53 - 0.2402 intronic STARD13 Reference - - - - - - - - STARD13 chr13 35683733 35683736 TATT - 1/3(0.75) 113 4 het unknown deletion chr13 rs35862456 0.49 - 0.2549 intronic NBEA Reference - - - - - - - - NBEA chr13 36050434 36050439 CTGCTG - 7/4(0.36) 148 11 het unknown deletion chr13 - - - 0.1471 ncRNA_UTR5 MAB21L1 Reference - - - - - - - - MAB21L1 chr13 37453293 37453293 - CTCT 8/8(0.50) 416 16 het unknown insertion chr13 - 0.68 - 0.3480 intronic SMAD9 Reference - - - - - - - - SMAD9 chr13 39618367 39618367 - GTGG 13/14(0.52) 496 27 het unknown insertion chr13 - - - 0.1740 intronic NHLRC3 Reference - - - - - - - - NHLRC3 chr13 40229842 40229842 - G 0/19(1.00) 821 19 hom unknown insertion chr13 rs113460453 0.46 0.383251 0.4044 5-UTR COG6 Reference - - - - - - - - COG6 chr13 40293289 40293289 T - 0/13(1.00) 294 13 hom unknown deletion chr13 rs5803008 - - 0.3235 intronic COG6 Reference - - - - - - - - COG6 chr13 41495919 41495928 GCCACGCAGC - 6/4(0.40) 151 10 het unknown deletion chr13 rs202004254 0.05 - 0.0392 upstream SUGT1P3;TPTE2P5 Reference - - - - - - - - TPTE2P5;SUGT1P3 chr13 41834579 41834579 T - 0/14(1.00) 276 14 hom unknown deletion chr13 rs66465270 - - 0.3505 intronic MTRF1 Reference - - - - - - - - MTRF1 chr13 41835076 41835076 - A 0/17(1.00) 433 17 hom unknown insertion chr13 rs3215932 - 0.705642 0.3922 intronic MTRF1 Reference - - - - - - - - MTRF1 chr13 42748077 42748077 - TG 10/5(0.33) 226 15 het unknown insertion chr13 rs143667194 - - 0.2108 intronic DGKH Reference - - - - - - - - DGKH chr13 42793767 42793774 GGTTTTTC - 0/16(1.00) 841 16 hom unknown deletion chr13 rs11277175 - - 0.4020 intronic DGKH Reference - - - - - - - - DGKH chr13 46060467 46060467 C - 2/4(0.67) 115 6 het unknown deletion chr13 - - - 0.0931 intronic COG3 Reference - - - - - - - - COG3 chr13 46060474 46060474 C - 2/5(0.71) 216 7 het unknown deletion chr13 rs113621277 - - 0.3088 intronic COG3 Reference - - - - - - - - COG3 chr13 46154129 46154131 ATT - 39/51(0.57) 2505 90 het unknown deletion chr13 rs34262705 0.18 0.116608 0.1814 intronic FAM194B Reference - - - - - - - - FAM194B chr13 46358321 46358324 AACA - 4/5(0.56) 209 9 het unknown deletion chr13 rs199909990 - - 0.1985 intronic SIAH3 Reference - - - - - - - - SIAH3 chr13 46641324 46641324 - A 0/11(1.00) 304 11 hom unknown insertion chr13 rs34583549 - - 0.2426 ncRNA_intronic CPB2-AS1 Reference - - - - - - - - CPB2-AS1 chr13 47279375 47279375 - T 1/18(0.95) 438 19 hom unknown insertion chr13 - - - 0.4289 intronic LRCH1 Reference - - - - - - - - LRCH1 chr13 47279680 47279680 - T 1/22(0.96) 707 23 hom unknown insertion chr13 rs35068547 0.83 - 0.3750 intronic LRCH1 Reference - - - - - - - - LRCH1 chr13 47408902 47408902 - T 11/13(0.54) 174 24 het unknown insertion chr13 rs200479769 0.19 - 0.1569 3-UTR HTR2A Reference - - - - - - - - HTR2A chr13 48575208 48575208 A - 0/46(1.00) 1807 46 hom unknown deletion chr13 rs11316376 - - 0.4044 intronic SUCLA2 Reference - - - - - - - - SUCLA2 chr13 48955659 48955659 - AA 2/4(0.67) 194 6 het unknown insertion chr13 - 0.24 - 0.2451 intronic RB1 Reference - - - - - - - - RB1 chr13 49034022 49034022 - T 0/54(1.00) 3070 54 hom unknown insertion chr13 rs147671546 - - 0.5000 intronic RB1 Reference - - - - - - - - RB1 chr13 49077088 49077088 - A 21/33(0.61) 1876 54 het unknown insertion chr13 rs9332043 - 0.475319 0.3725 intronic RCBTB2 Reference - - - - - - - - RCBTB2 chr13 49684341 49684341 - T 10/9(0.47) 198 19 het unknown insertion chr13 rs139123567 - - 0.3431 intronic FNDC3A Reference - - - - - - - - FNDC3A chr13 49865727 49865727 - CC 11/14(0.56) 767 25 het unknown insertion chr13 rs143390986 0.51 - 0.3235 intronic CDADC1 Reference - - - - - - - - CDADC1 chr13 50092128 50092131 ACTC - 0/17(1.00) 896 17 hom unknown deletion chr13 rs66480424 0.82 0.589100 0.3652 intronic PHF11 Reference - - - - - - - - PHF11 chr13 50100628 50100629 TT - 4/7(0.64) 226 11 het unknown deletion chr13 rs10546233 - 0.452430 0.2696 intronic PHF11 Reference - - - - - - - - PHF11 chr13 50100638 50100641 TATT - 5/8(0.62) 362 13 het unknown deletion chr13 - - 0.363819 0.2721 intronic PHF11 Reference - - - - - - - - PHF11 chr13 50126482 50126482 A - 2/8(0.80) 193 10 het unknown deletion chr13 rs3215806 0.25 - 0.2304 intronic RCBTB1 Reference - - - - - - - - RCBTB1 chr13 50306824 50306824 A - 0/30(1.00) 476 30 hom unknown deletion chr13 rs11342957 - - 0.4020 intronic KPNA3 Reference - - - - - - - - KPNA3 chr13 52332154 52332154 T - 9/10(0.53) 131 19 het unknown deletion chr13 rs5803570 - - 0.2304 intronic WDFY2 Reference - - - - - - - - WDFY2 chr13 52585591 52585591 - CGGCG 22/22(0.50) 1077 44 het unknown insertion chr13 rs148013251 0.51 - 0.3186 5-UTR ATP7B Reference - - - - - - - - ATP7B chr13 52657689 52657689 - G 10/4(0.29) 149 14 het unknown insertion chr13 - - - - intronic NEK5 Reference - - - - - - - - NEK5 chr13 52684802 52684803 AC - 8/12(0.60) 524 20 het unknown deletion chr13 rs71665641 - - 0.2647 intronic NEK5 Reference - - - - - - - - NEK5 chr13 52701490 52701490 - CTT 16/14(0.47) 751 30 het unknown insertion chr13 rs3076657 0.58 0.673083 0.3652 intronic NEK5 Reference - - - - - - - - NEK5 chr13 52707751 52707751 - CACA 7/4(0.36) 128 11 het unknown insertion chr13 - - - - intronic NEK3 Reference - - - - - - - - NEK3 chr13 52707751 52707751 - CACACA 7/4(0.36) 128 11 het unknown insertion chr13 rs3831081 - - 0.1569 intronic NEK3 Reference - - - - - - - - NEK3 chr13 52718050 52718050 - T 9/7(0.44) 161 16 het splicing insertion chr13 rs139472670 0.56 0.528624 0.2990 splicing NEK3 Reference - - - - - - - - NEK3(NM_152720,exon11,c.876+1->A;NM_002498,exon11,c.876+1->A;NM_001146099,exon11,c.876+1->A) chr13 52952929 52952929 A - 0/19(1.00) 450 19 hom unknown deletion chr13 rs113543720 - - 0.4142 intronic THSD1 Reference - - - - - - - - THSD1 chr13 53010353 53010353 - C 5/3(0.38) 125 8 het unknown insertion chr13 - - - 0.0147 intronic VPS36 Reference - - - - - - - - VPS36 chr13 53029771 53029788 GCGGTGGCGGTGGCGGTG - 0/29(1.00) 1500 29 hom unknown deletion chr13 rs72440971 0.61 - 0.2574 intronic CKAP2 Reference - - - - - - - - CKAP2 chr13 53617504 53617507 TTGT - 6/3(0.33) 83 9 het unknown deletion chr13 - - - 0.0221 intronic OLFM4 Reference - - - - - - - - OLFM4 chr13 54615316 54615316 A - 6/12(0.67) 465 18 het unknown deletion chr13 rs144930433 0.10 - 0.1275 intergenic LINC00558;MIR1297 Reference - - - - - - - - LINC00558(dist=165062);MIR1297(dist=270791) chr13 54615572 54615576 TAGAT - 17/14(0.45) 640 31 het unknown deletion chr13 rs144567553 0.11 - 0.1446 intergenic LINC00558;MIR1297 Reference - - - - - - - - MIR1297(dist=270531);LINC00558(dist=165318) chr13 60385060 60385060 - TTAC 0/18(1.00) 1091 18 hom unknown insertion chr13 rs10665848 - - 0.3578 intronic DIAPH3 Reference - - - - - - - - DIAPH3 chr13 61109082 61109083 AG - 1/2(0.67) 68 3 het unknown deletion chr13 - - - - intronic TDRD3 Reference - - - - - - - - TDRD3 chr13 70293328 70293345 GTGTGTGTGTGTGTGAGA - 1/4(0.80) 164 5 het unknown deletion chr13 rs71966264 - - 0.1887 intronic KLHL1 Reference - - - - - - - - KLHL1 chr13 73302158 73302158 T - 0/159(1.00) 3070 159 hom unknown deletion chr13 rs11350390 0.97 - 0.5466 intronic BORA Reference - - - - - - - - BORA chr13 73636910 73636910 - GTGT 0/23(1.00) 706 23 het unknown insertion chr13 - - - 0.0466 intronic KLF5 Reference - - - - - - - - KLF5 chr13 73636910 73636910 - GTGTGT 0/23(1.00) 706 23 het unknown insertion chr13 - - - 0.0245 intronic KLF5 Reference - - - - - - - - KLF5 chr13 75915250 75915250 - A 0/84(1.00) 3070 84 hom unknown insertion chr13 - 0.69 0.372105 0.3995 intronic TBC1D4 Reference - - - - - - - - TBC1D4 chr13 76102138 76102143 CACACA - 4/4(0.50) 137 8 het unknown deletion chr13 - - - 0.0025 intronic COMMD6 Reference - - - - - - - - COMMD6 chr13 76140815 76140815 T - 0/12(1.00) 196 12 hom unknown deletion chr13 rs56945758 - - 0.3897 intronic UCHL3 Reference - - - - - - - - UCHL3 chr13 76287433 76287434 TG - 0/21(1.00) 1093 21 hom unknown deletion chr13 rs3837544 0.62 0.402414 0.3382 intronic LMO7 Reference - - - - - - - - LMO7 chr13 77522726 77522729 ACTT - 76/75(0.50) 3070 151 het unknown deletion chr13 rs67524409 0.36 - 0.2917 intergenic BTF3P11;IRG1 Reference - - - - - - - - IRG1(dist=3895);BTF3P11(dist=19502) chr13 77644709 77644710 AC - 25/4(0.14) 95 29 het unknown deletion chr13 rs143124998 - 0.101677 - intronic MYCBP2 Reference - - - - - - - - MYCBP2 chr13 77740449 77740449 A - 11/10(0.48) 125 21 het unknown deletion chr13 rs3832881 - - 0.0343 intronic MYCBP2 Reference - - - - - - - - MYCBP2 chr13 77835520 77835520 - A 1/22(0.96) 422 23 hom unknown insertion chr13 rs11436373 - - 0.2892 intronic MYCBP2 Reference - - - - - - - - MYCBP2 chr13 79176484 79176486 TGG - 28/7(0.20) 240 35 het nonframeshift deletion chr13 - - - 0.0025 exonic POU4F1 Reference - - - - - - - - POU4F1,NM_006237,exon2,c.324_326del,p.108_109del chr13 79916792 79916792 - A 0/33(1.00) 1822 33 hom unknown insertion chr13 rs79278660 - 0.985856 0.3922 intronic RBM26 Reference - - - - - - - - RBM26 chr13 86367974 86367974 T - 2/3(0.60) 66 5 het unknown deletion chr13 rs34633805 0.66 - 0.3015 3-UTR SLITRK6 Reference - - - - - - - - SLITRK6 chr13 95715149 95715152 AAAG - 24/18(0.43) 757 42 het unknown deletion chr13 rs202097426 0.74 - 0.3676 intronic ABCC4 Reference - - - - - - - - ABCC4 chr13 95862861 95862864 GAGT - 20/18(0.47) 840 38 het unknown deletion chr13 rs3046400 0.34 - 0.2794 intronic ABCC4 Reference - - - - - - - - ABCC4 chr13 99061556 99061556 - T 1/39(0.97) 1062 40 hom unknown insertion chr13 rs5806061 - - 0.4436 intronic FARP1 Reference - - - - - - - - FARP1 chr13 99112468 99112468 - GCCTGAC 0/26(1.00) 1594 26 hom unknown insertion chr13 rs112280830 - - 0.3578 intronic STK24 Reference - - - - - - - - STK24 chr13 99461533 99461537 TTTTT - 0/29(1.00) 618 29 hom unknown deletion chr13 rs67121295 - - 0.3358 intronic DOCK9 Reference - - - - - - - - DOCK9 chr13 99555188 99555188 T - 6/15(0.71) 239 21 het unknown deletion chr13 rs35240640 - - 0.3186 intronic DOCK9 Reference - - - - - - - - DOCK9 chr13 99966514 99966514 - TT 19/4(0.17) 136 23 het unknown insertion chr13 - - - - ncRNA_intronic MIR548AN Reference - - - - - - - - MIR548AN chr13 99970430 99970430 T - 0/46(1.00) 1149 46 hom unknown deletion chr13 rs56695114 - - 0.4265 ncRNA_intronic MIR548AN Reference - - - - - - - - MIR548AN chr13 100517196 100517197 TG - 1/71(0.99) 3070 72 hom unknown deletion chr13 rs3831038 - 0.227955 0.3627 intronic CLYBL Reference - - - - - - - - CLYBL chr13 101182212 101182216 GGTGG - 0/12(1.00) 605 12 hom unknown deletion chr13 rs78228718 0.81 - 0.3995 intronic PCCA Reference - - - - - - - - PCCA chr13 101727044 101727045 AG - 35/7(0.17) 222 42 het unknown deletion chr13 - - - 0.0515 intronic NALCN Reference - - - - - - - - NALCN chr13 101753023 101753023 - TG 14/8(0.36) 397 22 het unknown insertion chr13 rs113145864 0.62 - 0.3358 intronic NALCN Reference - - - - - - - - NALCN chr13 101753026 101753026 T - 0/23(1.00) 985 23 hom unknown deletion chr13 rs57703343 0.99 - 0.3676 intronic NALCN Reference - - - - - - - - NALCN chr13 101763582 101763582 - A 20/10(0.33) 150 30 het unknown insertion chr13 rs141577333 0.42 0.051438 0.3333 intronic NALCN Reference - - - - - - - - NALCN chr13 103295485 103295485 - T 7/8(0.53) 419 15 het unknown insertion chr13 - 0.48 - 0.3113 intronic TPP2 Reference - - - - - - - - TPP2 chr13 103295552 103295555 TTCT - 22/29(0.57) 1391 51 het unknown deletion chr13 rs144831383 0.48 0.523893 0.3652 intronic TPP2 Reference - - - - - - - - TPP2 chr13 103297436 103297436 T - 22/25(0.53) 250 47 het unknown deletion chr13 rs10713633 - - 0.2843 intronic TPP2 Reference - - - - - - - - TPP2 chr13 103445609 103445609 - T 0/15(1.00) 902 15 hom unknown insertion chr13 - - - 0.3186 intronic KDELC1 Reference - - - - - - - - KDELC1 chr13 110821801 110821804 AAGA - 4/3(0.43) 105 7 het unknown deletion chr13 rs145300637 0.36 - 0.2279 intronic COL4A1 Reference - - - - - - - - COL4A1 chr13 110821844 110821844 - AC 0/4(1.00) 185 4 het unknown insertion chr13 - - - 0.0907 intronic COL4A1 Reference - - - - - - - - COL4A1 chr13 110821844 110821844 - ACAC 0/4(1.00) 185 4 het unknown insertion chr13 - - - 0.0343 intronic COL4A1 Reference - - - - - - - - COL4A1 chr13 111077401 111077401 T - 24/20(0.45) 684 44 het unknown deletion chr13 rs58151684 0.96 0.833275 0.4926 intronic COL4A2 Reference - - - - - - - - COL4A2 chr13 111294920 111294920 - C 0/44(1.00) 1955 44 hom unknown insertion chr13 rs76743748 0.99 - 0.5662 intronic CARS2 Reference - - - - - - - - CARS2 chr13 113158862 113158865 ATAT - 4/4(0.50) 157 8 het unknown deletion chr13 rs3832905 - - 0.2377 intronic TUBGCP3 Reference - - - - - - - - TUBGCP3 chr13 113527404 113527404 - T 6/2(0.25) 62 8 het unknown insertion chr13 - - - - intronic ATP11A Reference - - - - - - - - ATP11A chr13 113814588 113814588 - C 23/17(0.42) 856 40 het unknown insertion chr13 rs35691399 - - 0.2941 intronic PROZ Reference - - - - - - - - PROZ chr13 113818817 113818817 - C 10/59(0.86) 3070 69 het unknown insertion chr13 rs150762485 - - 0.4730 intronic PROZ Reference - - - - - - - - PROZ chr13 114178435 114178438 GTCA - 23/23(0.50) 1071 46 het unknown deletion chr13 rs72568608 0.16 - 0.1520 intronic TMCO3 Reference - - - - - - - - TMCO3 chr13 114514916 114514916 - A 7/3(0.30) 116 10 het unknown insertion chr13 - - - 0.0368 downstream TMEM255B Reference - - - - - - - - TMEM255B chr14 19117129 19117129 A - 42/6(0.12) 96 48 het unknown deletion chr14 rs141168980 0.11 - 0.1078 intergenic NONE;OR11H12 Reference - - - - - - - - NONE(dist=NONE);OR11H12(dist=260465) chr14 20528449 20528467 CATAGATTTGCTCACTGAC - 104/64(0.38) 3002 168 het frameshift deletion chr14 rs112192573 0.56 0.409731 0.4902 exonic OR4L1 Reference - - - - - - - - OR4L1,NM_001004717,exon1,c.246_264del,p.82_88del chr14 20825321 20825321 - TTCAC 1/47(0.98) 2862 48 hom unknown insertion chr14 rs10625811 0.25 0.223670 0.2377 intronic PARP2 Reference - - - - - - - - PARP2 chr14 20851840 20851840 A - 30/41(0.58) 810 71 het unknown deletion chr14 rs112044157 0.24 - 0.2475 intronic TEP1 Reference - - - - - - - - TEP1 chr14 21458321 21458324 CCCG - 2/105(0.98) 3070 107 hom unknown deletion chr14 rs147038155 0.22 - 0.2623 intronic METTL17 Reference - - - - - - - - METTL17 chr14 21487930 21487930 G - 28/23(0.45) 834 51 het unknown deletion chr14 rs150516189 0.11 0.055431 0.1127 intronic NDRG2 Reference - - - - - - - - NDRG2 chr14 21778718 21778720 AAT - 8/7(0.47) 302 15 het unknown deletion chr14 rs72160728 0.32 0.213796 0.2157 intronic RPGRIP1 Reference - - - - - - - - RPGRIP1 chr14 21859080 21859080 A - 55/40(0.42) 1883 95 het unknown deletion chr14 rs35057134 0.37 0.268299 0.3015 intronic CHD8 Reference - - - - - - - - CHD8 chr14 21869705 21869705 - T 0/29(1.00) 677 29 hom unknown insertion chr14 rs113076568 - - 0.3799 intronic CHD8 Reference - - - - - - - - CHD8 chr14 21960425 21960425 G - 11/6(0.35) 227 17 het unknown deletion chr14 rs59860769 0.21 - 0.1716 intronic TOX4 Reference - - - - - - - - TOX4 chr14 22293554 22293554 - C 0/43(1.00) 2665 43 hom unknown insertion chr14 rs112397277 - - 0.3995 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=159316);DAD1(dist=740253) chr14 22470914 22470914 T - 5/5(0.50) 60 10 het unknown deletion chr14 rs34215246 - - 0.3186 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=336676);DAD1(dist=562893) chr14 22573824 22573824 - A 6/4(0.40) 181 10 het unknown insertion chr14 rs112427980 0.40 0.273861 0.2868 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=459983);OR4E2(dist=439586) chr14 22963632 22963632 - C 0/12(1.00) 674 12 hom unknown insertion chr14 rs11372266 - - 0.3284 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=70175);OR4E2(dist=829394) chr14 22964840 22964840 - G 0/13(1.00) 734 13 hom unknown insertion chr14 rs137998884 - - 0.4314 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=830602);DAD1(dist=68967) chr14 22965119 22965119 C - 0/15(1.00) 656 15 hom unknown deletion chr14 rs11334443 - - 0.3407 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=68688);OR4E2(dist=830881) chr14 22972784 22972784 C - 0/112(1.00) 3070 112 hom unknown deletion chr14 rs5807141 - - 0.4387 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=838546);DAD1(dist=61023) chr14 22974151 22974151 C - 0/114(1.00) 3070 114 hom unknown deletion chr14 rs11324184 - - 0.4632 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=839913);DAD1(dist=59656) chr14 22978451 22978451 - C 0/46(1.00) 2854 46 hom unknown insertion chr14 rs11443893 - - 0.4534 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=55356);OR4E2(dist=844213) chr14 22984500 22984500 - GTT 0/19(1.00) 1154 19 hom unknown insertion chr14 rs144430862 - - 0.4216 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=49307);OR4E2(dist=850262) chr14 22985487 22985487 - C 0/18(1.00) 1091 18 hom unknown insertion chr14 - 0.97 - 0.3922 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=851249);DAD1(dist=48320) chr14 22990930 22990930 - T 0/39(1.00) 2413 39 hom unknown insertion chr14 rs11380759 - - 0.4118 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=856692);DAD1(dist=42877) chr14 22993278 22993278 - G 0/27(1.00) 1571 27 hom unknown insertion chr14 rs5807151 - 0.999395 0.4191 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=40529);OR4E2(dist=859040) chr14 22998591 22998591 G - 0/20(1.00) 851 20 hom unknown deletion chr14 rs5807161 - 0.999913 0.3971 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=864353);DAD1(dist=35216) chr14 22998620 22998620 C - 0/26(1.00) 1119 26 hom unknown deletion chr14 rs5807162 - 0.999827 0.3946 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=35187);OR4E2(dist=864382) chr14 22999179 22999179 - C 0/31(1.00) 1810 31 hom unknown insertion chr14 rs11412657 - - 0.3750 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=864941);DAD1(dist=34628) chr14 22999202 22999202 - G 0/42(1.00) 2602 42 hom unknown insertion chr14 - 0.99 - 0.4020 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=864964);DAD1(dist=34605) chr14 23002266 23002266 C - 0/15(1.00) 627 15 hom unknown deletion chr14 rs11289756 0.95 - 0.3578 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=31541);OR4E2(dist=868028) chr14 23005041 23005041 - G 0/114(1.00) 3070 114 hom unknown insertion chr14 rs11399696 - - 0.4191 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=870803);DAD1(dist=28766) chr14 23006663 23006663 - C 0/37(1.00) 2287 37 hom unknown insertion chr14 rs11412533 - - 0.5049 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=872425);DAD1(dist=27144) chr14 23020688 23020688 - C 0/73(1.00) 3070 73 hom unknown insertion chr14 rs72524111 - - 0.5613 intergenic OR4E2;DAD1 Reference - - - - - - - - OR4E2(dist=886450);DAD1(dist=13119) chr14 23020820 23020820 - C 0/49(1.00) 3043 49 hom unknown insertion chr14 rs5807168 - - 0.5441 intergenic OR4E2;DAD1 Reference - - - - - - - - DAD1(dist=12987);OR4E2(dist=886582) chr14 23240713 23240713 - AGC 65/66(0.50) 3070 131 het nonframeshift insertion chr14 rs148216086 0.12 0.252796 0.1887 exonic OXA1L Reference - - - - - - - - OXA1L,NM_005015,exon10,c.1434_1435insAGC,p.P478delinsPS chr14 23249409 23249409 G - 2/3(0.60) 73 5 het unknown deletion chr14 rs34757325 0.35 - 0.2083 intronic SLC7A7 Reference - - - - - - - - SLC7A7 chr14 23311043 23311043 T - 0/11(1.00) 469 11 hom unknown deletion chr14 rs17879412 - - 0.5441 intronic MMP14 Reference - - - - - - - - MMP14 chr14 23352465 23352476 GCACACGCACAC - 46/51(0.53) 2482 97 het unknown deletion chr14 - - 0.064278 0.0343 5-UTR REM2 Reference - - - - - - - - REM2 chr14 23371255 23371255 - GGC 90/83(0.48) 3070 173 het nonframeshift insertion chr14 rs144811538 0.80 0.462769 0.5123 exonic RBM23 Reference - - - - - - - - RBM23,NM_001077352,exon10,c.1077_1078insGCC,p.Q360delinsAQ;RBM23,NM_018107,exon11,c.1131_1132insGCC,p.Q378delinsAQ;RBM23,NM_001077351,exon12,c.1179_1180insGCC,p.Q394delinsAQ chr14 23391533 23391533 - ACAA 0/22(1.00) 1284 22 hom unknown insertion chr14 rs144411999 - - 0.4559 intronic PRMT5 Reference - - - - - - - - PRMT5 chr14 23524137 23524137 - G 20/12(0.38) 244 32 het unknown insertion chr14 rs11418548 - - 0.2132 intronic CDH24 Reference - - - - - - - - CDH24 chr14 23548783 23548783 - GAACGT 44/45(0.51) 2428 89 het nonframeshift insertion chr14 rs148403158 - - 0.4657 exonic ACIN1 Reference - - - - - - - - ACIN1,NM_001164815,exon5,c.1814_1815insACGTTC,p.S605delinsSRS;ACIN1,NM_001164814,exon6,c.1934_1935insACGTTC,p.S645delinsSRS;ACIN1,NM_014977,exon6,c.1934_1935insACGTTC,p.S645delinsSRS chr14 23549879 23549881 TCC - 50/33(0.40) 1488 83 het nonframeshift deletion chr14 rs3841035 - - 0.1985 exonic ACIN1 Reference - - - - - - - - ACIN1,NM_001164815,exon5,c.717_719del,p.239_240del;ACIN1,NM_001164814,exon6,c.837_839del,p.279_280del;ACIN1,NM_014977,exon6,c.837_839del,p.279_280del chr14 23596243 23596243 - CA 1/5(0.83) 257 6 het unknown insertion chr14 rs10622298 - - 0.1520 3-UTR SLC7A8 Reference - - - - - - - - SLC7A8 chr14 23596284 23596285 AG - 8/3(0.27) 93 11 het unknown deletion chr14 rs143188613 0.18 - 0.1740 3-UTR SLC7A8 Reference - - - - - - - - SLC7A8 chr14 23732300 23732300 - T 9/8(0.47) 85 17 het unknown insertion chr14 rs71425080 - - 0.2647 intronic C14orf164 Reference - - - - - - - - C14orf164 chr14 23744804 23744806 CAT - 0/6(1.00) 232 6 het nonframeshift deletion chr14 - - 0.447989 - exonic HOMEZ Reference - - - - - - - - HOMEZ,NM_020834,exon2,c.1631_1633del,p.544_545del chr14 23744801 23744806 CATCAT - 0/6(1.00) 232 6 het nonframeshift deletion chr14 - - - 0.1176 exonic HOMEZ Reference - - - - - - - - HOMEZ,NM_020834,exon2,c.1631_1636del,p.544_546del chr14 23892646 23892649 ACAC - 3/10(0.77) 470 13 het unknown deletion chr14 rs72351640 - - 0.0980 intronic MYH7 Reference - - - - - - - - MYH7 chr14 23940090 23940090 C - 0/39(1.00) 2111 39 hom unknown deletion chr14 rs113140976 0.65 - 0.3505 intronic NGDN Reference - - - - - - - - NGDN chr14 24031695 24031695 C - 75/52(0.41) 1670 127 het unknown deletion chr14 rs58786222 0.13 - 0.1716 intronic AP1G2 Reference - - - - - - - - AP1G2 chr14 24429240 24429240 G - 10/13(0.57) 272 23 het unknown deletion chr14 - - 0.043847 0.0025 intronic DHRS4 Reference - - - - - - - - DHRS4 chr14 24436382 24436382 A - 43/46(0.52) 740 89 het unknown deletion chr14 rs33966071 - - 0.3137 intronic DHRS4 Reference - - - - - - - - DHRS4 chr14 24646406 24646406 - GAA 0/69(1.00) 3070 69 hom nonframeshift insertion chr14 rs10690822 - 0.983776 0.5245 exonic REC8 Reference - - - - - - - - REC8,NM_005132,exon9,c.681_682insGAA,p.E227delinsEE;REC8,NM_001048205,exon8,c.681_682insGAA,p.E227delinsEE chr14 24651625 24651626 AG - 25/16(0.39) 721 41 het unknown deletion chr14 rs149643983 - 0.096547 0.1520 intronic IPO4 Reference - - - - - - - - IPO4 chr14 24652107 24652107 - G 0/74(1.00) 3070 74 hom unknown insertion chr14 rs75323579 0.93 0.595917 0.4975 intronic IPO4 Reference - - - - - - - - IPO4 chr14 24659409 24659410 CT - 6/3(0.33) 99 9 het unknown deletion chr14 rs67843857 0.59 - 0.2941 3-UTR TM9SF1 Reference - - - - - - - - TM9SF1 chr14 24680607 24680607 C - 14/9(0.39) 222 23 het unknown deletion chr14 rs71119065 0.11 0.122684 0.1054 intronic CHMP4A Reference - - - - - - - - CHMP4A chr14 24683267 24683267 A - 33/20(0.38) 694 53 het frameshift deletion chr14 rs3215610 0.20 0.184265 0.2794 exonic MDP1;NEDD8-MDP1 Reference - - - - - - - - MDP1,NM_001199821,exon5,c.354delT,p.F118fs chr14 24686481 24686483 TTG - 10/7(0.41) 296 17 het unknown deletion chr14 rs149980708 - - 0.2402 intronic NEDD8;NEDD8-MDP1 Reference - - - - - - - - NEDD8-MDP1;NEDD8 chr14 24710819 24710819 - A 18/14(0.44) 63 32 het unknown insertion chr14 rs111384535 - - 0.1152 intronic TINF2 Reference - - - - - - - - TINF2 chr14 24718380 24718401 CTCCGGGAGCCCTGGACTCCCC - 0/32(1.00) 1617 32 hom unknown deletion chr14 rs41294726 - - 0.1814 3-UTR TGM1 Reference - - - - - - - - TGM1 chr14 24769849 24769849 - GAG 12/9(0.43) 460 21 het nonframeshift insertion chr14 - - - 0.0760 exonic NOP9 Reference - - - - - - - - NOP9,NM_001286367,exon2,c.483_484insGAG,p.A161delinsAE;NOP9,NM_174913,exon2,c.483_484insGAG,p.A161delinsAE chr14 24774987 24774988 AA - 26/31(0.54) 1232 57 het unknown deletion chr14 rs143103469 0.03 - 0.0270 3-UTR NOP9 Reference - - - - - - - - NOP9 chr14 24795232 24795233 CA - 59/53(0.47) 2550 112 het unknown deletion chr14 rs67156008 0.47 0.762342 0.4093 intronic ADCY4 Reference - - - - - - - - ADCY4 chr14 24795586 24795586 T - 8/9(0.53) 406 17 het unknown deletion chr14 rs78289669 0.55 0.272284 0.3676 intronic ADCY4 Reference - - - - - - - - ADCY4 chr14 24836955 24836957 GGA - 5/3(0.38) 102 8 het unknown deletion chr14 rs138364808 0.48 - 0.2696 intronic NFATC4 Reference - - - - - - - - NFATC4 chr14 24910317 24910317 - TT 0/38(1.00) 2350 38 hom unknown insertion chr14 - - - 0.4069 3-UTR KHNYN Reference - - - - - - - - KHNYN chr14 30396622 30396622 - CCCGGA 12/11(0.48) 495 23 het nonframeshift insertion chr14 rs45471692 0.16 0.037194 0.0711 exonic PRKD1 Reference - - - - - - - - PRKD1,NM_002742,exon1,c.96_97insTCCGGG,p.P33delinsSGP chr14 31380216 31380216 A - 6/10(0.62) 205 16 het unknown deletion chr14 rs3830860 - - 0.3039 intronic STRN3 Reference - - - - - - - - STRN3 chr14 31782112 31782112 - AAAAG 0/27(1.00) 1632 27 hom unknown insertion chr14 rs113193812 - - 0.2745 intronic HEATR5A Reference - - - - - - - - HEATR5A chr14 33408616 33408616 - CCG 7/8(0.53) 391 15 het unknown insertion chr14 - - - - intronic NPAS3 Reference - - - - - - - - NPAS3 chr14 34993863 34993863 - TGTGTGTG 1/5(0.83) 207 6 het unknown insertion chr14 - - - 0.0074 intronic EAPP Reference - - - - - - - - EAPP chr14 34993863 34993863 - TGTGTGTGTG 1/5(0.83) 207 6 het unknown insertion chr14 - - - 0.0098 intronic EAPP Reference - - - - - - - - EAPP chr14 34993863 34993863 - TGTGTGTGTGTG 1/5(0.83) 207 6 het unknown insertion chr14 - - - 0.0539 intronic EAPP Reference - - - - - - - - EAPP chr14 35182407 35182409 ATA - 0/24(1.00) 1282 24 hom unknown deletion chr14 rs35219728 0.74 0.484982 0.3676 intronic CFL2 Reference - - - - - - - - CFL2 chr14 35492300 35492300 G - 22/14(0.39) 625 36 het unknown deletion chr14 rs202204501 0.27 0.119097 0.2010 intronic SRP54 Reference - - - - - - - - SRP54 chr14 35492302 35492318 TTGTTATTAGTTAACAG - 24/15(0.38) 674 39 het unknown deletion chr14 - - 0.120593 0.2034 intronic SRP54 Reference - - - - - - - - SRP54 chr14 36121088 36121088 A - 0/11(1.00) 242 11 hom unknown deletion chr14 rs35892589 - - 0.3407 ncRNA_intronic RALGAPA1P Reference - - - - - - - - RALGAPA1P chr14 37203643 37203643 A - 0/17(1.00) 749 17 hom unknown deletion chr14 rs5807904 0.64 - 0.3333 intronic SLC25A21 Reference - - - - - - - - SLC25A21 chr14 37344229 37344229 - G 0/57(1.00) 3070 57 hom unknown insertion chr14 rs5807914 0.82 0.852476 0.4485 intronic SLC25A21 Reference - - - - - - - - SLC25A21 chr14 39502539 39502539 - A 0/16(1.00) 581 16 hom unknown insertion chr14 rs11418467 - 0.937280 0.3701 intronic SEC23A Reference - - - - - - - - SEC23A chr14 39511953 39511953 T - 8/6(0.43) 186 14 het unknown deletion chr14 rs3837584 0.24 - 0.2525 intronic SEC23A Reference - - - - - - - - SEC23A chr14 39784010 39784010 - TGTGTGTG 3/4(0.57) 192 7 het unknown insertion chr14 - - - 0.0074 intronic CTAGE5 Reference - - - - - - - - CTAGE5 chr14 39796049 39796049 T - 0/22(1.00) 528 22 hom unknown deletion chr14 rs36031495 - - 0.4387 intronic CTAGE5 Reference - - - - - - - - CTAGE5 chr14 39815251 39815253 TTC - 17/17(0.50) 797 34 het unknown deletion chr14 rs141233863 0.08 0.074077 0.0907 intronic CTAGE5 Reference - - - - - - - - CTAGE5 chr14 45473220 45473220 - G 7/8(0.53) 419 15 het unknown insertion chr14 rs111878142 0.13 0.168225 0.0956 intronic FAM179B Reference - - - - - - - - FAM179B chr14 45628284 45628285 TA - 2/5(0.71) 215 7 het unknown deletion chr14 rs112326758 0.15 - 0.0882 intronic FANCM Reference - - - - - - - - FANCM chr14 45654411 45654414 CTTA - 8/12(0.60) 562 20 het unknown deletion chr14 rs34252356 0.13 0.226457 0.1152 intronic FANCM Reference - - - - - - - - FANCM chr14 50789079 50789079 T - 3/5(0.62) 83 8 het unknown deletion chr14 rs11357954 0.60 - 0.2819 intronic ATP5S Reference - - - - - - - - ATP5S chr14 50789101 50789101 - ATAC 8/7(0.47) 356 15 het unknown insertion chr14 rs10685266 - - 0.2966 intronic ATP5S Reference - - - - - - - - ATP5S chr14 50844367 50844367 - A 0/26(1.00) 1594 26 hom unknown insertion chr14 rs78942968 - 0.791922 0.4706 intronic CDKL1 Reference - - - - - - - - CDKL1 chr14 51062237 51062238 TC - 0/29(1.00) 1541 29 hom unknown deletion chr14 rs3834518 - - 0.3775 intronic ATL1 Reference - - - - - - - - ATL1 chr14 51096644 51096644 - AAT 12/3(0.20) 103 15 het unknown insertion chr14 rs138369461 0.10 0.278145 0.1127 intronic ATL1 Reference - - - - - - - - ATL1 chr14 51208236 51208236 - GTA 0/20(1.00) 1216 20 hom unknown insertion chr14 rs76858548 - - 0.3873 intronic NIN Reference - - - - - - - - NIN chr14 51289873 51289873 G - 18/5(0.22) 124 23 het unknown deletion chr14 rs112915125 - - 0.1078 intronic NIN Reference - - - - - - - - NIN chr14 51372099 51372099 A - 22/10(0.31) 330 32 het unknown deletion chr14 rs3216001 0.64 - 0.3971 3-UTR PYGL Reference - - - - - - - - PYGL chr14 51378591 51378591 T - 52/64(0.55) 2470 116 het splicing deletion chr14 rs11356035 0.66 0.443610 0.4779 splicing PYGL Reference - - - - - - - - PYGL(NM_001163940,exon16,c.1726-2A>-;NM_002863,exon17,c.1828-2A>-) chr14 51492135 51492135 - CACACAGGTGTTTT 0/14(1.00) 839 14 hom unknown insertion chr14 rs11268748 0.69 - 0.3505 intronic TRIM9 Reference - - - - - - - - TRIM9 chr14 51710508 51710508 - A 0/14(1.00) 838 14 hom unknown insertion chr14 rs66509045 0.94 - 0.3529 intronic TMX1 Reference - - - - - - - - TMX1 chr14 51710543 51710543 - T 11/13(0.54) 350 24 het unknown insertion chr14 rs143191476 0.92 0.369117 0.2402 intronic TMX1 Reference - - - - - - - - TMX1 chr14 51713995 51713995 - TAT 2/5(0.71) 254 7 het unknown insertion chr14 rs146927855 - - 0.1054 intronic TMX1 Reference - - - - - - - - TMX1 chr14 52471017 52471017 - AAAT 27/19(0.41) 1017 46 het unknown insertion chr14 rs71444718 - 0.428377 0.3211 intronic C14orf166 Reference - - - - - - - - C14orf166 chr14 52472621 52472624 AGTC - 9/9(0.50) 403 18 het unknown deletion chr14 rs72261409 0.55 - 0.2941 intronic NID2 Reference - - - - - - - - NID2 chr14 52474819 52474821 TAG - 8/5(0.38) 197 13 het unknown deletion chr14 rs72558680 0.52 - 0.2819 intronic NID2 Reference - - - - - - - - NID2 chr14 52527096 52527096 - G 3/4(0.57) 217 7 het unknown insertion chr14 - - - - intronic NID2 Reference - - - - - - - - NID2 chr14 53513479 53513480 AG - 0/60(1.00) 3070 60 hom unknown deletion chr14 rs10599915 0.98 0.854792 0.5319 3-UTR DDHD1 Reference - - - - - - - - DDHD1 chr14 53522324 53522324 - A 0/21(1.00) 1279 21 hom unknown insertion chr14 rs11402447 0.99 - 0.4828 intronic DDHD1 Reference - - - - - - - - DDHD1 chr14 53619480 53619480 - GCCGCC 0/19(1.00) 1134 19 hom nonframeshift insertion chr14 rs140904345 - - 0.4510 exonic DDHD1 Reference - - - - - - - - DDHD1,NM_001160148,exon1,c.336_337insGGCGGC,p.S113delinsGGS;DDHD1,NM_001160147,exon1,c.336_337insGGCGGC,p.S113delinsGGS;DDHD1,NM_030637,exon1,c.336_337insGGCGGC,p.S113delinsGGS chr14 57676824 57676824 T - 1/4(0.80) 166 5 het unknown deletion chr14 rs200089845 0.18 0.114561 0.1642 intronic EXOC5 Reference - - - - - - - - EXOC5 chr14 58478874 58478874 A - 9/11(0.55) 263 20 het unknown deletion chr14 rs3837616 0.65 0.573945 0.3260 intronic C14orf37 Reference - - - - - - - - C14orf37 chr14 58669661 58669661 T - 4/6(0.60) 261 10 het unknown deletion chr14 rs75291796 - - 0.2574 intronic ACTR10 Reference - - - - - - - - ACTR10 chr14 58954588 58954588 - A 1/23(0.96) 578 24 hom unknown insertion chr14 rs35914991 0.97 0.916931 0.4436 intronic KIAA0586 Reference - - - - - - - - KIAA0586 chr14 59730423 59730425 AGG - 24/23(0.49) 1089 47 het unknown deletion chr14 rs67718668 0.29 0.359904 0.3480 intronic DAAM1 Reference - - - - - - - - DAAM1 chr14 59805218 59805218 T - 14/13(0.48) 392 27 het unknown deletion chr14 rs3830986 0.17 0.120067 0.2328 intronic DAAM1 Reference - - - - - - - - DAAM1 chr14 59942953 59942953 - CAAC 2/3(0.60) 134 5 het unknown insertion chr14 rs10634233 0.19 0.571965 0.1397 intronic L3HYPDH Reference - - - - - - - - L3HYPDH chr14 59961972 59961972 G - 10/12(0.55) 525 22 het unknown deletion chr14 rs35919683 0.18 - 0.1348 intronic JKAMP Reference - - - - - - - - JKAMP chr14 59977607 59977607 A - 10/8(0.44) 113 18 het unknown deletion chr14 rs11305995 0.16 - 0.1225 intronic CCDC175 Reference - - - - - - - - CCDC175 chr14 59978366 59978366 - TG 0/35(1.00) 2161 35 hom unknown insertion chr14 - - - 0.3922 intronic CCDC175 Reference - - - - - - - - CCDC175 chr14 60581674 60581674 T - 0/28(1.00) 596 28 hom unknown deletion chr14 rs35459418 - 0.834284 0.3750 intronic PCNXL4 Reference - - - - - - - - PCNXL4 chr14 60932570 60932591 ACACACACACACACACACACAC - 2/4(0.67) 162 6 het unknown deletion chr14 rs35846023 - - 0.2059 intronic C14orf39 Reference - - - - - - - - C14orf39 chr14 62016387 62016387 - T 45/38(0.46) 656 83 het unknown insertion chr14 rs141727640 - - 0.0784 intronic PRKCH Reference - - - - - - - - PRKCH chr14 62213929 62213929 - T 0/13(1.00) 607 13 hom unknown insertion chr14 rs5809121 0.80 - 0.3235 ncRNA_exonic HIF1A-AS2 Reference - - - - - - - - HIF1A-AS2 chr14 63779846 63779846 - A 41/25(0.38) 1174 66 het unknown insertion chr14 - 0.61 0.687369 0.4069 intronic GPHB5 Reference - - - - - - - - GPHB5 chr14 63784407 63784407 - G 1/93(0.99) 3070 94 hom unknown insertion chr14 rs11382440 - 0.999832 0.6176 exonic GPHB5 Reference - - - - - - - - GPHB5 chr14 64470160 64470161 CT - 0/29(1.00) 1559 29 hom unknown deletion chr14 rs4027385 0.34 - 0.2966 intronic SYNE2 Reference - - - - - - - - SYNE2 chr14 65009534 65009534 - T 0/26(1.00) 685 26 hom unknown insertion chr14 - - 0.557498 0.3971 3-UTR HSPA2 Reference - - - - - - - - HSPA2 chr14 65204242 65204242 - CA 0/31(1.00) 1826 31 hom unknown insertion chr14 rs142038577 0.13 - 0.1471 intronic PLEKHG3 Reference - - - - - - - - PLEKHG3 chr14 65733762 65733763 TC - 23/16(0.41) 727 39 het unknown deletion chr14 rs150028498 - - 0.0392 intergenic LOC100128233;MIR4708 Reference - - - - - - - - LOC100128233(dist=44697);MIR4708(dist=68073) chr14 67389720 67389720 - T 7/12(0.63) 519 19 het unknown insertion chr14 - 0.47 - 0.2990 intronic GPHN Reference - - - - - - - - GPHN chr14 67759567 67759571 TGTAT - 2/5(0.71) 215 7 het unknown deletion chr14 rs140281635 0.06 - 0.0515 intronic MPP5 Reference - - - - - - - - MPP5 chr14 67799713 67799713 - A 22/19(0.46) 701 41 het unknown insertion chr14 - - - 0.0196 3-UTR MPP5 Reference - - - - - - - - MPP5 chr14 67807243 67807243 A - 28/49(0.64) 707 77 het unknown deletion chr14 rs33973037 - 0.519569 0.3603 intronic ATP6V1D Reference - - - - - - - - ATP6V1D chr14 68045840 68045840 - TTCT 29/24(0.45) 1311 53 het unknown insertion chr14 rs10635755 - 0.762061 0.4485 intronic PLEKHH1 Reference - - - - - - - - PLEKHH1 chr14 68191795 68191795 - T 19/31(0.62) 909 50 het unknown insertion chr14 rs201208501 0.02 - 0.0392 intronic RDH12 Reference - - - - - - - - RDH12 chr14 68301767 68301767 - A 17/19(0.53) 452 36 het unknown insertion chr14 rs34564590 - 0.404473 0.1740 intronic RAD51B Reference - - - - - - - - RAD51B chr14 69445858 69445858 - GGGCT 0/7(1.00) 363 7 het unknown insertion chr14 rs145260230 0.32 - 0.2623 5-UTR ACTN1 Reference - - - - - - - - ACTN1 chr14 71052278 71052278 - TTTTC 7/4(0.36) 178 11 het unknown insertion chr14 rs112233021 - - 0.3235 intronic MED6 Reference - - - - - - - - MED6 chr14 71108784 71108784 - GCG 5/4(0.44) 185 9 het unknown insertion chr14 - - - 0.0025 5-UTR TTC9 Reference - - - - - - - - TTC9 chr14 72169289 72169291 TGT - 15/7(0.32) 281 22 het unknown deletion chr14 rs200629991 0.09 - 0.1201 intronic SIPA1L1 Reference - - - - - - - - SIPA1L1 chr14 72204903 72204904 AC - 10/3(0.23) 81 13 het unknown deletion chr14 - - - 0.0025 intronic SIPA1L1 Reference - - - - - - - - SIPA1L1 chr14 72932327 72932330 TGGG - 9/21(0.70) 1013 30 het unknown deletion chr14 - - - 0.2500 intronic RGS6 Reference - - - - - - - - RGS6 chr14 73079291 73079291 - AA 1/70(0.99) 3070 71 hom unknown insertion chr14 rs75889177 - 0.590629 0.5270 intergenic RGS6;DPF3 Reference - - - - - - - - RGS6(dist=46053);DPF3(dist=6713) chr14 73360819 73360819 - TGTC 0/85(1.00) 3070 85 hom unknown insertion chr14 rs5809598 - 0.986311 0.4853 5-UTR DPF3 Reference - - - - - - - - DPF3 chr14 73421263 73421265 CTC - 20/25(0.56) 1205 45 het unknown deletion chr14 rs147673369 0.41 - 0.3627 intronic DCAF4 Reference - - - - - - - - DCAF4 chr14 73957981 73957981 - C 0/41(1.00) 2539 41 hom unknown insertion chr14 rs150704374 - 0.999357 0.4191 exonic C14orf169 Reference - - - - - - - - C14orf169 chr14 74009889 74009889 C - 28/38(0.58) 1860 66 het frameshift deletion chr14 - - - - exonic ACOT1 Reference - - - - - - - - ACOT1,NM_001037161,exon3,c.796delC,p.R266fs chr14 74726515 74726515 - C 0/22(1.00) 1200 22 hom unknown insertion chr14 rs11383441 - - 0.5049 intronic VSX2 Reference - - - - - - - - VSX2 chr14 74973583 74973583 - GCGCGCAT 2/5(0.71) 180 7 het unknown insertion chr14 - - - 0.0858 intronic LTBP2 Reference - - - - - - - - LTBP2 chr14 74973583 74973583 - GCGCGCGCAT 2/5(0.71) 180 7 het unknown insertion chr14 - - - - intronic LTBP2 Reference - - - - - - - - LTBP2 chr14 75378297 75378302 TGTGTA - 0/17(1.00) 867 17 hom unknown deletion chr14 rs3081755 - - 0.4167 intronic RPS6KL1 Reference - - - - - - - - RPS6KL1 chr14 75747408 75747408 G - 67/53(0.44) 1868 120 het unknown deletion chr14 rs3216792 0.56 0.784185 0.4093 intronic FOS Reference - - - - - - - - FOS chr14 75989564 75989564 - AG 2/3(0.60) 87 5 het unknown insertion chr14 rs4025948 - - 0.2353 intronic BATF Reference - - - - - - - - BATF chr14 76013521 76013526 TCTCCT - 3/7(0.70) 301 10 het unknown deletion chr14 rs199970555 - - 0.2819 downstream BATF Reference - - - - - - - - BATF chr14 76198819 76198819 T - 9/22(0.71) 249 31 het unknown deletion chr14 rs5809726 - - 0.2353 intronic TTLL5 Reference - - - - - - - - TTLL5 chr14 76548784 76548789 GACCTT - 20/13(0.39) 580 33 het unknown deletion chr14 rs137916626 0.39 - 0.2966 intronic IFT43 Reference - - - - - - - - IFT43 chr14 76948262 76948262 - T 0/61(1.00) 3070 61 hom unknown insertion chr14 rs35641516 0.67 - 0.4142 intronic ESRRB Reference - - - - - - - - ESRRB chr14 77236714 77236714 - CTC 1/2(0.67) 77 3 het unknown insertion chr14 rs200811224 - - 0.2377 intronic VASH1 Reference - - - - - - - - VASH1 chr14 77319774 77319779 GTGTGT - 3/6(0.67) 261 9 het unknown deletion chr14 - - - 0.0784 intronic C14orf166B Reference - - - - - - - - C14orf166B chr14 77493762 77493767 TGCTGC - 2/5(0.71) 195 7 het nonframeshift deletion chr14 rs200317113 0.71 - 0.1520 exonic IRF2BPL Reference - - - - - - - - IRF2BPL,NM_024496,exon1,c.369_374del,p.123_125del chr14 77733118 77733118 T - 26/29(0.53) 859 55 het unknown deletion chr14 rs28909968 0.48 - 0.3529 intronic NGB Reference - - - - - - - - NGB chr14 77935239 77935239 - G 0/12(1.00) 674 12 hom unknown insertion chr14 rs35605802 0.92 - 0.4191 intronic AHSA1 Reference - - - - - - - - AHSA1 chr14 78036900 78036900 G - 0/57(1.00) 3070 57 hom unknown deletion chr14 rs11344772 0.90 0.461182 0.4265 intronic SPTLC2 Reference - - - - - - - - SPTLC2 chr14 78182674 78182677 AAAA - 3/2(0.40) 31 5 het unknown deletion chr14 rs71128669 - - 0.2574 intronic SLIRP Reference - - - - - - - - SLIRP chr14 78285462 78285462 T - 26/30(0.54) 995 56 het unknown deletion chr14 rs3214433 - 0.604153 0.4510 intronic ADCK1 Reference - - - - - - - - ADCK1 chr14 78353251 78353256 ACACAC - 6/6(0.50) 247 12 het unknown deletion chr14 rs199737863 - - 0.1642 intronic ADCK1 Reference - - - - - - - - ADCK1 chr14 79423744 79423744 - AT 0/34(1.00) 2098 34 hom unknown insertion chr14 rs138502352 0.44 0.304393 0.4485 intronic NRXN3 Reference - - - - - - - - NRXN3 chr14 81046810 81046810 - ACGAGTT 6/8(0.57) 422 14 het unknown insertion chr14 rs143406098 0.52 0.242165 0.3211 intronic CEP128 Reference - - - - - - - - CEP128 chr14 81574845 81574845 - TTTTTTCTTTTTAC 12/12(0.50) 654 24 het unknown insertion chr14 - - - 0.1863 intronic TSHR Reference - - - - - - - - TSHR chr14 81970336 81970336 T - 7/3(0.30) 70 10 het unknown deletion chr14 rs57590415 0.54 - 0.2843 intronic SEL1L Reference - - - - - - - - SEL1L chr14 88407716 88407716 - A 2/23(0.92) 338 25 hom unknown insertion chr14 rs34752717 - 0.378549 0.3529 intronic GALC Reference - - - - - - - - GALC chr14 88417096 88417096 A - 0/35(1.00) 655 35 hom unknown deletion chr14 rs11300320 - - 0.4020 intronic GALC Reference - - - - - - - - GALC chr14 88429917 88429917 A - 7/6(0.46) 38 13 het unknown deletion chr14 rs201562753 - - 0.1152 intronic GALC Reference - - - - - - - - GALC chr14 88651826 88651826 - AC 4/23(0.85) 1303 27 het unknown insertion chr14 rs144490234 - - 0.3897 3-UTR KCNK10 Reference - - - - - - - - KCNK10 chr14 88707212 88707212 T - 9/7(0.44) 72 16 het unknown deletion chr14 - - 0.074720 0.0368 intronic KCNK10 Reference - - - - - - - - KCNK10 chr14 88852280 88852280 G - 0/13(1.00) 514 13 hom unknown deletion chr14 rs5810413 - - 0.4240 intronic SPATA7 Reference - - - - - - - - SPATA7 chr14 89037482 89037482 - AT 12/6(0.33) 223 18 het unknown insertion chr14 rs10682918 - - 0.2549 intronic ZC3H14 Reference - - - - - - - - ZC3H14 chr14 89082396 89082396 - T 12/6(0.33) 245 18 het unknown insertion chr14 rs138476641 0.40 - 0.2892 intronic EML5 Reference - - - - - - - - EML5 chr14 89091202 89091202 - GAA 12/17(0.59) 825 29 het unknown insertion chr14 rs149369776 0.47 - 0.3284 intronic EML5 Reference - - - - - - - - EML5 chr14 89124421 89124423 ACC - 2/3(0.60) 111 5 het unknown deletion chr14 rs139528554 0.53 - 0.2966 intronic EML5 Reference - - - - - - - - EML5 chr14 89310105 89310105 - A 7/11(0.61) 148 18 het unknown insertion chr14 - - - 0.1397 intronic TTC8 Reference - - - - - - - - TTC8 chr14 90752846 90752846 A - 20/19(0.49) 691 39 het unknown deletion chr14 rs113463686 0.21 0.130751 0.2010 intronic NRDE2 Reference - - - - - - - - NRDE2 chr14 91077279 91077279 C - 12/11(0.48) 498 23 het unknown deletion chr14 rs3215800 0.11 - 0.1299 intronic TTC7B Reference - - - - - - - - TTC7B chr14 91110624 91110625 CG - 1/3(0.75) 114 4 het unknown deletion chr14 rs71117367 - - 0.2770 intronic TTC7B Reference - - - - - - - - TTC7B chr14 91360733 91360733 - T 40/28(0.41) 1518 68 het unknown insertion chr14 rs144211004 0.37 0.181070 0.3137 3-UTR RPS6KA5 Reference - - - - - - - - RPS6KA5 chr14 91942088 91942088 G - 1/6(0.86) 270 7 het unknown deletion chr14 rs34276510 - - 0.2745 intronic SMEK1 Reference - - - - - - - - SMEK1 chr14 92040590 92040590 C - 2/7(0.78) 259 9 het unknown deletion chr14 rs34650717 0.53 0.484798 0.3088 intergenic SMEK1;CATSPERB Reference - - - - - - - - SMEK1(dist=63766);CATSPERB(dist=6528) chr14 92189548 92189548 - A 8/6(0.43) 50 14 het unknown insertion chr14 - - - 0.3064 intronic CATSPERB Reference - - - - - - - - CATSPERB chr14 92584021 92584021 - TTTT 0/16(1.00) 823 16 hom unknown insertion chr14 rs36078150 0.87 0.383796 0.3897 intronic NDUFB1 Reference - - - - - - - - NDUFB1 chr14 92588156 92588159 TTTT - 1/28(0.97) 272 29 hom unknown deletion chr14 rs10603293 - 0.399525 0.4975 upstream CPSF2;NDUFB1 Reference - - - - - - - - CPSF2;NDUFB1 chr14 92958503 92958503 G - 15/4(0.21) 124 19 het unknown deletion chr14 rs34605132 0.28 0.173163 0.2819 intronic SLC24A4 Reference - - - - - - - - SLC24A4 chr14 93154538 93154540 GGC - 0/79(1.00) 3070 79 hom nonframeshift deletion chr14 rs148538588 0.79 0.709483 0.4412 exonic RIN3 Reference - - - - - - - - RIN3,NM_024832,exon10,c.2899_2901del,p.967_967del chr14 93282872 93282872 - CTTCG 5/3(0.38) 125 8 het unknown insertion chr14 rs142530146 - - 0.3137 intronic GOLGA5 Reference - - - - - - - - GOLGA5 chr14 93286292 93286292 C - 0/33(1.00) 1370 33 hom unknown deletion chr14 rs10716250 0.81 - 0.4289 intronic GOLGA5 Reference - - - - - - - - GOLGA5 chr14 94423327 94423327 - GACA 35/39(0.53) 2151 74 het unknown insertion chr14 rs3841478 0.61 0.060064 0.4167 5-UTR ASB2 Reference - - - - - - - - ASB2 chr14 94935513 94935516 AAAT - 7/9(0.56) 409 16 het unknown deletion chr14 rs141362535 0.08 - 0.1373 intronic SERPINA9 Reference - - - - - - - - SERPINA9 chr14 95566096 95566096 C - 13/11(0.46) 524 24 het unknown deletion chr14 - - - 0.2230 intronic DICER1 Reference - - - - - - - - DICER1 chr14 95566098 95566108 CACACACACAC - 5/9(0.64) 400 14 het unknown deletion chr14 - - - 0.2304 intronic DICER1 Reference - - - - - - - - DICER1 chr14 95566106 95566106 C - 3/9(0.75) 387 12 het unknown deletion chr14 - - - 0.0735 intronic DICER1 Reference - - - - - - - - DICER1 chr14 95566108 95566108 C - 3/9(0.75) 390 12 het unknown deletion chr14 - - - 0.1054 intronic DICER1 Reference - - - - - - - - DICER1 chr14 95592421 95592421 - CT 2/3(0.60) 134 5 het unknown insertion chr14 rs34039186 - - 0.2402 intronic DICER1 Reference - - - - - - - - DICER1 chr14 95670804 95670804 - A 16/9(0.36) 137 25 het unknown insertion chr14 rs5810715 - 0.267143 0.3260 intronic CLMN Reference - - - - - - - - CLMN chr14 95903308 95903310 AGA - 0/29(1.00) 1559 29 hom nonframeshift deletion chr14 rs76499929 0.18 0.108946 0.2770 exonic SYNE3 Reference - - - - - - - - SYNE3,NM_152592,exon14,c.2385_2387del,p.795_796del chr14 95910970 95910971 AG - 1/60(0.98) 3070 61 hom unknown deletion chr14 rs36019358 0.45 0.258466 0.3897 intronic SYNE3 Reference - - - - - - - - SYNE3 chr14 95918549 95918549 C - 51/32(0.39) 1140 83 het unknown deletion chr14 rs11362194 0.49 0.339856 0.4387 intronic SYNE3 Reference - - - - - - - - SYNE3 chr14 95923471 95923475 CTGTC - 54/32(0.37) 1471 86 het unknown deletion chr14 rs146162422 0.57 0.394481 0.4485 intronic SYNE3 Reference - - - - - - - - SYNE3 chr14 96790337 96790337 - A 3/40(0.93) 1009 43 hom splicing insertion chr14 rs34296665 0.35 0.329001 0.2549 splicing ATG2B Reference - - - - - - - - ATG2B(NM_018036,exon17,c.2438-2->T) chr14 97000684 97000686 GTC - 6/3(0.33) 99 9 het unknown deletion chr14 rs200540826 - - - 3-UTR PAPOLA Reference - - - - - - - - PAPOLA chr14 99924980 99924981 AA - 0/18(1.00) 761 18 hom unknown deletion chr14 rs67963270 0.59 - 0.3358 intronic SETD3 Reference - - - - - - - - SETD3 chr14 99925643 99925654 TTCAAATAAATA - 15/10(0.40) 421 25 het unknown deletion chr14 rs199829258 0.04 - 0.0098 intronic SETD3 Reference - - - - - - - - SETD3 chr14 100384033 100384036 TGTG - 15/13(0.46) 594 28 het unknown deletion chr14 rs75719251 0.11 - 0.1667 intronic EML1 Reference - - - - - - - - EML1 chr14 100387242 100387242 - T 35/44(0.56) 1290 79 het unknown insertion chr14 - 0.55 0.669010 0.3480 intronic EML1 Reference - - - - - - - - EML1 chr14 100808493 100808493 - A 0/33(1.00) 999 33 hom unknown insertion chr14 - - - 0.3725 intronic WARS Reference - - - - - - - - WARS chr14 101418193 101418193 G - 0/17(1.00) 716 17 hom unknown deletion chr14 rs10713875 - - 0.4216 ncRNA_exonic SNORD114-2 Reference - - - - - - - - SNORD114-2 chr14 102496395 102496396 GT - 16/20(0.56) 927 36 het unknown deletion chr14 - - - 0.4779 intronic DYNC1H1 Reference - - - - - - - - DYNC1H1 chr14 102551795 102551795 - TAA 0/41(1.00) 2510 41 hom unknown insertion chr14 rs35308930 - 0.904043 0.4828 intronic HSP90AA1 Reference - - - - - - - - HSP90AA1 chr14 102808555 102808559 GTGGA - 3/2(0.40) 56 5 het unknown deletion chr14 rs34220197 - 0.309766 0.0735 3-UTR ZNF839 Reference - - - - - - - - ZNF839 chr14 102904552 102904564 CCCGCTCCCTGCT - 2/5(0.71) 215 7 het unknown deletion chr14 rs142320181 0.14 0.206368 0.1127 intronic TECPR2 Reference - - - - - - - - TECPR2 chr14 102964359 102964359 - GCCCAAGCTCCCAGCTCCATCTGT 10/6(0.38) 287 16 het unknown insertion chr14 rs146599191 - - 0.0833 intronic TECPR2 Reference - - - - - - - - TECPR2 chr14 103570135 103570138 GTGT - 13/3(0.19) 79 16 het unknown deletion chr14 - - - - intronic EXOC3L4 Reference - - - - - - - - EXOC3L4 chr14 103576804 103576804 G - 16/10(0.38) 141 26 het unknown deletion chr14 rs11355422 - - 0.3505 3-UTR EXOC3L4 Reference - - - - - - - - EXOC3L4 chr14 103805948 103805950 TTG - 12/12(0.50) 550 24 het unknown deletion chr14 rs141026346 0.26 0.120048 0.3260 intronic EIF5 Reference - - - - - - - - EIF5 chr14 103915216 103915219 TGTT - 10/5(0.33) 191 15 het unknown deletion chr14 rs201540879 0.30 - 0.2696 intronic MARK3 Reference - - - - - - - - MARK3 chr14 103915226 103915226 A - 10/6(0.38) 230 16 het unknown deletion chr14 rs199558440 0.30 0.250358 0.2672 intronic MARK3 Reference - - - - - - - - MARK3 chr14 104028196 104028196 - A 38/26(0.41) 496 64 het unknown insertion chr14 - - - 0.3235 intronic BAG5 Reference - - - - - - - - BAG5 chr14 104136470 104136470 T - 0/50(1.00) 2285 50 hom unknown deletion chr14 rs11333716 0.98 0.937700 0.3995 intronic KLC1 Reference - - - - - - - - KLC1 chr14 104143630 104143630 A - 4/4(0.50) 157 8 het unknown deletion chr14 rs3831093 0.33 - 0.2598 intronic KLC1 Reference - - - - - - - - KLC1 chr14 104177192 104177192 - AC het unknown insertion chr14 - - - - intronic XRCC3 Reference - - - - - - - - XRCC3 chr14 104177191 104177192 AC - 4/13(0.76) 115 17 het unknown deletion chr14 - - - 0.0196 intronic XRCC3 Reference - - - - - - - - XRCC3 chr14 104481200 104481200 - T 54/44(0.45) 1054 98 het unknown insertion chr14 - - 0.398243 0.3480 intronic TDRD9 Reference - - - - - - - - TDRD9 chr14 104491087 104491090 ACAC - 1/3(0.75) 114 4 het unknown deletion chr14 rs71863477 - - 0.0539 intronic TDRD9 Reference - - - - - - - - TDRD9 chr14 104631988 104631988 - TG 2/4(0.67) 194 6 het unknown insertion chr14 rs148671298 - - 0.0074 intronic KIF26A Reference - - - - - - - - KIF26A chr14 105055119 105055127 GACGGGCAG - 0/17(1.00) 872 17 hom frameshift deletion chr14 rs111285011 0.64 0.377023 0.4755 exonic C14orf180 Reference - - - - - - - - C14orf180,NM_001008404,exon5,c.482_819del,p.161_161del;C14orf180,NM_001286400,exon5,c.482_984del,p.161_161del chr14 105055292 105055292 G - 0/12(1.00) 398 12 hom unknown deletion chr14 rs3840008 0.96 - 0.3946 3-UTR C14orf180 Reference - - - - - - - - C14orf180 chr14 105177352 105177352 A - 0/62(1.00) 3070 62 hom unknown deletion chr14 rs3840006 0.90 0.571609 0.5074 intronic INF2 Reference - - - - - - - - INF2 chr14 105238592 105238596 CTGAG - 0/20(1.00) 1062 20 hom unknown deletion chr14 rs55839843 0.60 - 0.3873 intronic AKT1 Reference - - - - - - - - AKT1 chr14 105352885 105352890 GCAGGA - 46/45(0.49) 2171 91 het nonframeshift deletion chr14 rs150426191 0.09 0.056974 0.1544 exonic CEP170B Reference - - - - - - - - CEP170B,NM_015005,exon11,c.2099_2104del,p.700_702del;CEP170B,NM_001112726,exon12,c.2309_2314del,p.770_772del chr14 105356241 105356245 AAATG - 2/5(0.71) 215 7 het unknown deletion chr14 - - - 0.0368 intronic CEP170B Reference - - - - - - - - CEP170B chr14 105356248 105356254 TGGATGG - 2/5(0.71) 215 7 het unknown deletion chr14 - - - 0.0294 intronic CEP170B Reference - - - - - - - - CEP170B chr14 105932636 105932636 - AG 2/4(0.67) 194 6 het unknown insertion chr14 rs34378689 0.17 - 0.1054 intronic MTA1 Reference - - - - - - - - MTA1 chr14 106091744 106091744 A - 40/24(0.38) 1093 64 het unknown deletion chr14 rs35171885 0.33 0.227311 0.3358 intergenic TMEM121;ELK2AP Reference - - - - - - - - TMEM121(dist=95205);ELK2AP(dist=44170) chr14 106175037 106175037 - ATGCCATG 45/7(0.13) 237 52 het unknown insertion chr14 rs58621233 - 0.332227 0.0662 intergenic ELK2AP;KIAA0125 Reference - - - - - - - - ELK2AP(dist=35893);KIAA0125(dist=208801) chr14 106175040 106175040 - CCAGGAGGACAG 46/7(0.13) 230 53 het unknown insertion chr14 rs59809572 0.04 - 0.0515 intergenic ELK2AP;KIAA0125 Reference - - - - - - - - KIAA0125(dist=208798);ELK2AP(dist=35896) chr14 106175045 106175045 - G 40/7(0.15) 259 47 het unknown insertion chr14 - - 0.050975 0.0637 intergenic ELK2AP;KIAA0125 Reference - - - - - - - - KIAA0125(dist=208793);ELK2AP(dist=35901) chr14 106667902 106667902 - C 0/104(1.00) 3070 104 hom unknown insertion chr14 - 0.96 0.997994 0.5564 intergenic ADAM6;LINC00226 Reference - - - - - - - - ADAM6(dist=229544);LINC00226(dist=76367) chr14 106780957 106780957 G - 4/5(0.56) 166 9 het unknown deletion chr14 rs34740110 0.33 0.271341 0.3211 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00221(dist=157488);LINC00226(dist=35991) chr14 106866399 106866399 - CA 63/10(0.14) 367 73 het unknown insertion chr14 - - - 0.1569 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00221(dist=72046);LINC00226(dist=121433) chr14 106866412 106866413 GG - 71/12(0.14) 272 83 het unknown deletion chr14 - - - 0.1471 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00226(dist=121446);LINC00221(dist=72032) chr14 106877447 106877447 - TGATCT 38/44(0.54) 2485 82 het unknown insertion chr14 rs57593057 - - 0.2672 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00221(dist=60998);LINC00226(dist=132481) chr14 106877819 106877820 TA - 91/24(0.21) 943 115 het unknown deletion chr14 - - 0.227909 0.1814 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00226(dist=132853);LINC00221(dist=60625) chr14 106877822 106877822 T - 90/24(0.21) 944 114 het unknown deletion chr14 - - - 0.1814 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00226(dist=132856);LINC00221(dist=60623) chr14 106877970 106877970 G - 56/7(0.11) 158 63 het unknown deletion chr14 rs149317298 - - 0.1642 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00221(dist=60475);LINC00226(dist=133004) chr14 106926652 106926653 TC - 99/43(0.30) 1893 142 het unknown deletion chr14 rs142878466 0.15 0.317837 0.2525 intergenic LINC00226;LINC00221 Reference - - - - - - - - LINC00226(dist=181686);LINC00221(dist=11792) chr14 107048609 107048610 CC - 0/12(1.00) 398 12 hom unknown deletion chr14 rs34705140 - - 0.3186 intergenic LINC00221;NONE Reference - - - - - - - - NONE(dist=NONE);LINC00221(dist=97080) chr14 107169769 107169769 - GAG 1/3(0.75) 137 4 het unknown insertion chr14 rs201385222 - - 0.2230 intergenic LINC00221;NONE Reference - - - - - - - - NONE(dist=NONE);LINC00221(dist=218240) chr14 107178775 107178775 - G 0/20(1.00) 1216 20 hom unknown insertion chr14 rs111549351 0.99 - 0.2181 intergenic LINC00221;NONE Reference - - - - - - - - NONE(dist=NONE);LINC00221(dist=227246) chr15 20084188 20084188 - A 20/9(0.31) 439 29 het unknown insertion chr15 rs112942337 - - 0.4559 intergenic NONE;CHEK2P2 Reference - - - - - - - - NONE(dist=NONE);CHEK2P2(dist=403809) chr15 22383483 22383483 A - 23/57(0.71) 2866 80 het unknown deletion chr15 rs3841636 0.62 - 0.4044 3-UTR OR4N4 Reference - - - - - - - - OR4N4 chr15 22845637 22845637 - TATTTTTAAA 6/4(0.40) 181 10 het unknown insertion chr15 rs144200387 0.47 - 0.2843 intronic TUBGCP5 Reference - - - - - - - - TUBGCP5 chr15 22955308 22955308 C - 8/5(0.38) 144 13 het unknown deletion chr15 rs3217548 0.46 0.558028 0.4240 intronic CYFIP1 Reference - - - - - - - - CYFIP1 chr15 23086365 23086367 GCC - 5/7(0.58) 328 12 het nonframeshift deletion chr15 - - - 0.0319 exonic NIPA1 Reference - - - - - - - - NIPA1,NM_144599,exon1,c.45_47del,p.15_16del chr15 23200801 23200801 A - 8/6(0.43) 55 14 het unknown deletion chr15 rs200557911 - - 0.0833 ncRNA_intronic WHAMMP3 Reference - - - - - - - - WHAMMP3 chr15 23685004 23685004 - CAT 0/41(1.00) 2539 41 hom unknown insertion chr15 rs34879341 - - 0.5539 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71533);MIR4508(dist=122205) chr15 23685058 23685060 GGC - 34/3(0.08) 31 37 het unknown deletion chr15 - - - - intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=122149);GOLGA8S(dist=71587) chr15 23685092 23685094 CTC - 17/9(0.35) 393 26 het unknown deletion chr15 - - - 0.0466 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71621);MIR4508(dist=122115) chr15 23685197 23685199 CTC - 24/10(0.29) 408 34 het unknown deletion chr15 - - - 0.0343 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=122010);GOLGA8S(dist=71726) chr15 23685218 23685220 CTC - 45/5(0.10) 129 50 het unknown deletion chr15 - - - 0.0147 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121989);GOLGA8S(dist=71747) chr15 23685239 23685241 CTC - 43/13(0.23) 523 56 het unknown deletion chr15 - - - 0.0809 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121968);GOLGA8S(dist=71768) chr15 23685261 23685263 TCT - 39/32(0.45) 1652 71 het unknown deletion chr15 - - - 0.1275 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71790);MIR4508(dist=121946) chr15 23685273 23685274 CA - 46/22(0.32) 905 68 het unknown deletion chr15 - - - 0.0074 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71802);MIR4508(dist=121935) chr15 23685278 23685278 C - 46/21(0.31) 877 67 het unknown deletion chr15 - - - 0.0098 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71807);MIR4508(dist=121931) chr15 23685300 23685301 TT - 42/6(0.12) 237 48 het unknown deletion chr15 - - - 0.0196 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71829);MIR4508(dist=121908) chr15 23685305 23685305 T - 3/21(0.88) 684 24 het unknown deletion chr15 - - - 0.0025 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121904);GOLGA8S(dist=71834) chr15 23685305 23685306 TT - 3/21(0.88) 684 24 het unknown deletion chr15 - - - - intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71834);MIR4508(dist=121903) chr15 23685305 23685307 TTG - 3/21(0.88) 684 24 het unknown deletion chr15 - - - 0.0956 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121902);GOLGA8S(dist=71834) chr15 23685308 23685308 C - 8/11(0.58) 211 19 het unknown deletion chr15 - - - 0.0049 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121901);GOLGA8S(dist=71837) chr15 23685325 23685325 - CTG 10/2(0.17) 34 12 het unknown insertion chr15 - - - 0.0025 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71854);MIR4508(dist=121884) chr15 23685409 23685411 GCC - 11/5(0.31) 176 16 het unknown deletion chr15 - - - 0.0025 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71938);MIR4508(dist=121798) chr15 23685454 23685464 TCTGCTCCTGA - 4/6(0.60) 157 10 het unknown deletion chr15 - - - 0.1078 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71983);MIR4508(dist=121745) chr15 23685463 23685463 - C 7/19(0.73) 1032 26 het unknown insertion chr15 - - - 0.1446 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71992);MIR4508(dist=121746) chr15 23685463 23685463 - CTCCC 7/19(0.73) 1032 26 het unknown insertion chr15 - - - 0.0098 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - GOLGA8S(dist=71992);MIR4508(dist=121746) chr15 23685464 23685464 - TCT 1/19(0.95) 1051 20 het unknown insertion chr15 - - - 0.0490 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121745);GOLGA8S(dist=71993) chr15 23685464 23685464 - TATCT 1/19(0.95) 1051 20 het unknown insertion chr15 - - - 0.0294 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=121745);GOLGA8S(dist=71993) chr15 23687819 23687819 T - 1/27(0.96) 457 28 hom unknown deletion chr15 - - - 0.3701 intergenic GOLGA8S;MIR4508 Reference - - - - - - - - MIR4508(dist=119390);GOLGA8S(dist=74348) chr15 25926325 25926325 - AAC 9/4(0.31) 172 13 het unknown insertion chr15 rs35849027 0.62 - 0.3015 intronic ATP10A Reference - - - - - - - - ATP10A chr15 25963208 25963208 G - 9/11(0.55) 507 20 het unknown deletion chr15 rs138645194 0.12 - 0.1422 intronic ATP10A Reference - - - - - - - - ATP10A chr15 27890572 27890572 T - 0/47(1.00) 1198 47 hom unknown deletion chr15 rs5811500 - - 0.4069 intergenic GABRG3;OCA2 Reference - - - - - - - - OCA2(dist=109451);GABRG3(dist=112199) chr15 28377196 28377196 - CT 0/43(1.00) 2665 43 hom unknown insertion chr15 rs10627923 - 0.963903 0.4289 intronic HERC2 Reference - - - - - - - - HERC2 chr15 28502601 28502601 - C 2/4(0.67) 168 6 het unknown insertion chr15 rs78023806 0.39 - 0.2647 intronic HERC2 Reference - - - - - - - - HERC2 chr15 29444087 29444087 - CCC 14/16(0.53) 877 30 het unknown insertion chr15 rs34760029 0.23 0.143185 0.2255 intronic FAM189A1 Reference - - - - - - - - FAM189A1 chr15 29444131 29444131 C - 0/18(1.00) 795 18 hom unknown deletion chr15 rs59230279 - - 0.4779 intronic FAM189A1 Reference - - - - - - - - FAM189A1 chr15 30069921 30069921 T - 0/16(1.00) 702 16 hom unknown deletion chr15 rs34542662 - - 0.2868 intronic TJP1 Reference - - - - - - - - TJP1 chr15 30665281 30665282 CA - 0/15(1.00) 785 15 hom frameshift deletion chr15 rs201490160 0.64 0.354433 0.3627 exonic CHRFAM7A Reference - - - - - - - - CHRFAM7A,NM_139320,exon6,c.227_228del,p.76_76del chr15 31220710 31220715 TGTGTG - 8/15(0.65) 716 23 het unknown deletion chr15 - - - 0.0074 intronic FAN1 Reference - - - - - - - - FAN1 chr15 31251334 31251334 A - 0/45(1.00) 983 45 hom unknown deletion chr15 rs11340006 - - 0.3799 intronic MTMR10 Reference - - - - - - - - MTMR10 chr15 31776211 31776213 GGC - 1/37(0.97) 1965 38 hom nonframeshift deletion chr15 rs199744400 0.85 0.678571 0.1569 exonic OTUD7A Reference - - - - - - - - OTUD7A,NM_130901,exon11,c.2065_2067del,p.689_689del chr15 32393660 32393660 - AG 2/6(0.75) 314 8 het unknown insertion chr15 rs151204095 - - 0.1103 intronic CHRNA7 Reference - - - - - - - - CHRNA7 chr15 33915964 33915964 - T 1/32(0.97) 730 33 hom unknown insertion chr15 - - - 0.3235 intronic RYR3 Reference - - - - - - - - RYR3 chr15 34113455 34113455 T - 0/36(1.00) 1013 36 hom unknown deletion chr15 rs35254800 - - 0.3946 intronic RYR3 Reference - - - - - - - - RYR3 chr15 34118994 34118994 - AG 0/51(1.00) 3070 51 hom unknown insertion chr15 rs4041449 - 0.915671 0.4020 intronic RYR3 Reference - - - - - - - - RYR3 chr15 34152697 34152697 - T 14/13(0.48) 161 27 het unknown insertion chr15 - - - 0.2598 intronic RYR3 Reference - - - - - - - - RYR3 chr15 34153097 34153131 TGTATGGCACTACTGAGTGAATGACTAATAGCCAA - 4/3(0.43) 105 7 het unknown deletion chr15 - - - 0.0049 intronic RYR3 Reference - - - - - - - - RYR3 chr15 34157436 34157436 - AAAG 48/45(0.48) 2488 93 het unknown insertion chr15 rs143114117 0.23 0.020909 0.2402 3-UTR RYR3 Reference - - - - - - - - RYR3 chr15 34380216 34380216 - A 22/16(0.42) 122 38 het unknown insertion chr15 - - - 0.0147 intronic EMC7 Reference - - - - - - - - EMC7 chr15 34543298 34543298 - A 2/29(0.94) 637 31 hom unknown insertion chr15 rs11382535 - - 0.4142 intronic SLC12A6 Reference - - - - - - - - SLC12A6 chr15 34654339 34654339 - TCTC 1/22(0.96) 990 23 het unknown insertion chr15 - - - 0.2451 intronic LPCAT4 Reference - - - - - - - - LPCAT4 chr15 34654339 34654339 - TCTCTC 1/22(0.96) 990 23 het unknown insertion chr15 - - - 0.1176 intronic LPCAT4 Reference - - - - - - - - LPCAT4 chr15 35083509 35083526 CACACACACACACACACA - 12/10(0.45) 444 22 het unknown deletion chr15 rs140570640 - 0.125861 0.1225 intronic ACTC1 Reference - - - - - - - - ACTC1 chr15 35230934 35230934 - TAGT 35/29(0.45) 1593 64 het unknown insertion chr15 rs10701045 - 0.774695 0.4093 intronic AQR Reference - - - - - - - - AQR chr15 35664407 35664407 A - 3/9(0.75) 129 12 het unknown deletion chr15 rs141638132 - - 0.2475 intronic DPH6 Reference - - - - - - - - DPH6 chr15 38230566 38230566 G - 0/35(1.00) 1587 35 hom unknown deletion chr15 rs59125264 - - 0.3946 intronic TMCO5A Reference - - - - - - - - TMCO5A chr15 38641773 38641773 - TT 0/13(1.00) 776 13 hom unknown insertion chr15 - - - 0.3162 intronic SPRED1 Reference - - - - - - - - SPRED1 chr15 38641774 38641774 - AAT 0/13(1.00) 776 13 hom unknown insertion chr15 - - - 0.3186 intronic SPRED1 Reference - - - - - - - - SPRED1 chr15 38641777 38641777 - TA 0/13(1.00) 776 13 hom unknown insertion chr15 - 0.80 - 0.3162 intronic SPRED1 Reference - - - - - - - - SPRED1 chr15 39876062 39876062 - AT 9/7(0.44) 353 16 het unknown insertion chr15 rs3830465 0.34 - 0.2696 intronic THBS1 Reference - - - - - - - - THBS1 chr15 40019054 40019055 AC - 4/3(0.43) 105 7 het unknown deletion chr15 - - - 0.0147 intronic FSIP1 Reference - - - - - - - - FSIP1 chr15 40268998 40268998 - GACGAC 78/47(0.38) 2432 125 het nonframeshift insertion chr15 - - 0.082226 0.0735 exonic EIF2AK4 Reference - - - - - - - - EIF2AK4,NM_001013703,exon12,c.2202_2203insGACGAC,p.E734delinsEDD chr15 40269126 40269126 - TTCC 0/38(1.00) 2291 38 hom unknown insertion chr15 rs112695691 0.58 - 0.3382 intronic EIF2AK4 Reference - - - - - - - - EIF2AK4 chr15 40293037 40293039 AAT - 6/4(0.40) 151 10 het unknown deletion chr15 rs72248603 0.26 - 0.1985 intronic EIF2AK4 Reference - - - - - - - - EIF2AK4 chr15 40329480 40329480 - GAAAAAAAA 13/8(0.38) 312 21 het unknown insertion chr15 - - - 0.0172 intronic SRP14 Reference - - - - - - - - SRP14 chr15 40700006 40700006 - TT 0/12(1.00) 674 12 hom unknown insertion chr15 rs3214685 - - 0.4093 intronic IVD Reference - - - - - - - - IVD chr15 41030579 41030579 - A 0/31(1.00) 825 31 hom unknown insertion chr15 rs34355108 0.79 - 0.3971 intronic RMDN3 Reference - - - - - - - - RMDN3 chr15 41104789 41104789 - AG 0/11(1.00) 650 11 hom unknown insertion chr15 - - - 0.1985 intronic ZFYVE19 Reference - - - - - - - - ZFYVE19 chr15 41483631 41483631 - A 0/19(1.00) 1154 19 hom unknown insertion chr15 rs75754919 0.99 0.971965 0.4632 intronic EXD1 Reference - - - - - - - - EXD1 chr15 41507883 41507883 - A 1/9(0.90) 57 10 het unknown insertion chr15 rs113812559 - - 0.0882 intronic EXD1 Reference - - - - - - - - EXD1 chr15 41507883 41507883 - AA 1/9(0.90) 57 10 het unknown insertion chr15 - - - 0.1544 intronic EXD1 Reference - - - - - - - - EXD1 chr15 41797573 41797573 - G 0/44(1.00) 1524 44 hom unknown insertion chr15 rs35233496 0.87 - 0.5613 intronic LTK Reference - - - - - - - - LTK chr15 41814526 41814526 C - 4/6(0.60) 209 10 het unknown deletion chr15 rs75855376 0.13 - 0.1348 intronic RPAP1 Reference - - - - - - - - RPAP1 chr15 41991392 41991392 T - 0/14(1.00) 416 14 hom unknown deletion chr15 rs11285992 - 0.128571 0.3603 intronic MGA Reference - - - - - - - - MGA chr15 42137037 42137037 T - 0/21(1.00) 856 21 hom unknown deletion chr15 rs3214841 0.69 0.117910 0.3824 intronic JMJD7-PLA2G4B;PLA2G4B Reference - - - - - - - - PLA2G4B;JMJD7-PLA2G4B chr15 42139391 42139391 T - 0/15(1.00) 452 15 hom unknown deletion chr15 rs3214531 - - 0.3750 intronic JMJD7-PLA2G4B;PLA2G4B Reference - - - - - - - - PLA2G4B;JMJD7-PLA2G4B chr15 42143145 42143145 - CA 0/151(1.00) 3070 151 hom unknown insertion chr15 rs113487115 - 0.511733 0.3358 intronic SPTBN5 Reference - - - - - - - - SPTBN5 chr15 42144968 42144968 G - 60/15(0.20) 36 75 het unknown deletion chr15 - - - 0.0172 intronic SPTBN5 Reference - - - - - - - - SPTBN5 chr15 42185297 42185297 - CCCAT 34/34(0.50) 1899 68 het unknown insertion chr15 rs55835308 0.21 0.032114 0.2230 intronic SPTBN5 Reference - - - - - - - - SPTBN5 chr15 42305852 42305852 - GAG 1/38(0.97) 2315 39 hom unknown insertion chr15 rs146948794 - - 0.4608 intronic PLA2G4E Reference - - - - - - - - PLA2G4E chr15 42523341 42523341 - C 0/90(1.00) 3070 90 hom unknown insertion chr15 - - - 0.4853 intronic TMEM87A Reference - - - - - - - - TMEM87A chr15 42553219 42553219 T - 0/19(1.00) 958 19 hom unknown deletion chr15 rs139662856 0.94 0.938129 0.3627 intronic TMEM87A Reference - - - - - - - - TMEM87A chr15 42622967 42622968 CC - 3/5(0.62) 128 8 het unknown deletion chr15 - - - - intronic GANC Reference - - - - - - - - GANC chr15 43016883 43016883 - AAAG 8/18(0.69) 1016 26 het unknown insertion chr15 rs111380239 0.09 - 0.1422 intronic CDAN1 Reference - - - - - - - - CDAN1 chr15 43025209 43025209 - G 19/15(0.44) 796 34 het unknown insertion chr15 rs11448523 0.26 - 0.2745 intronic CDAN1 Reference - - - - - - - - CDAN1 chr15 43026628 43026628 - T 10/9(0.47) 470 19 het unknown insertion chr15 - 0.10 - 0.1691 intronic CDAN1 Reference - - - - - - - - CDAN1 chr15 43170690 43170690 - AC 12/5(0.29) 232 17 het unknown insertion chr15 - - 0.463444 0.2475 intronic TTBK2 Reference - - - - - - - - TTBK2 chr15 43237806 43237806 T - 4/4(0.50) 107 8 het unknown deletion chr15 rs11352938 - - 0.3088 intronic UBR1 Reference - - - - - - - - UBR1 chr15 43237814 43237823 TCACCATTGA - 4/4(0.50) 157 8 het unknown deletion chr15 rs67230215 - - 0.3260 intronic UBR1 Reference - - - - - - - - UBR1 chr15 43494290 43494291 CT - 2/3(0.60) 111 5 het unknown deletion chr15 rs146083591 0.10 - 0.1250 intronic EPB42 Reference - - - - - - - - EPB42 chr15 43903224 43903224 - TGTGTGTGTC 25/10(0.29) 350 35 het unknown insertion chr15 - - - 0.0049 intronic STRC Reference - - - - - - - - STRC chr15 43903224 43903224 - TGTGTGTGTGTC 25/10(0.29) 350 35 het unknown insertion chr15 - - - 0.0539 intronic STRC Reference - - - - - - - - STRC chr15 43903224 43903224 - TGTGTGTGTGTGTGTC 25/10(0.29) 350 35 het unknown insertion chr15 - - - 0.0074 intronic STRC Reference - - - - - - - - STRC chr15 44119314 44119314 A - 46/45(0.49) 1782 91 het unknown deletion chr15 rs3832984 0.31 0.319214 0.3162 intronic WDR76 Reference - - - - - - - - WDR76 chr15 44216559 44216559 - T 14/10(0.42) 61 24 het unknown insertion chr15 rs5812256 - - 0.2328 intronic FRMD5 Reference - - - - - - - - FRMD5 chr15 45028919 45028919 - T 9/20(0.69) 310 29 het unknown insertion chr15 rs113956071 - - 0.4069 intronic TRIM69 Reference - - - - - - - - TRIM69 chr15 45445695 45445708 TGTGTGTGTGTGTG - 1/6(0.86) 264 7 het unknown deletion chr15 - - - - intronic DUOX1 Reference - - - - - - - - DUOX1 chr15 45445693 45445708 TGTGTGTGTGTGTGTG - 1/6(0.86) 264 7 het unknown deletion chr15 - - - 0.0172 intronic DUOX1 Reference - - - - - - - - DUOX1 chr15 45695831 45695831 T - 0/71(1.00) 3070 71 hom unknown deletion chr15 rs3833012 0.85 - 0.4485 intronic SPATA5L1 Reference - - - - - - - - SPATA5L1 chr15 48623249 48623286 CGGGCGCGGTGTCTTGCCCACAGCTTGGGGAGCGGCCC - 12/6(0.33) 241 18 het unknown deletion chr15 - 0.22 - 0.1397 upstream DUT Reference - - - - - - - - DUT chr15 48749040 48749040 - GT 10/3(0.23) 109 13 het unknown insertion chr15 - - - 0.0196 intronic FBN1 Reference - - - - - - - - FBN1 chr15 48789236 48789236 - A 5/5(0.50) 212 10 het unknown insertion chr15 rs35343140 0.11 - 0.0588 intronic FBN1 Reference - - - - - - - - FBN1 chr15 49097733 49097733 - C 7/6(0.46) 286 13 het unknown insertion chr15 - 0.40 0.468023 0.1838 intronic CEP152 Reference - - - - - - - - CEP152 chr15 49860547 49860547 A - 24/28(0.54) 726 52 het unknown deletion chr15 rs35392010 - 0.085918 0.2745 intronic FAM227B Reference - - - - - - - - FAM227B chr15 50366116 50366116 - A 21/19(0.47) 976 40 het unknown insertion chr15 - 0.33 - 0.2353 intronic ATP8B4 Reference - - - - - - - - ATP8B4 chr15 50521265 50521265 - A 70/59(0.46) 3070 129 het unknown insertion chr15 rs5812509 0.64 0.835703 0.4142 intronic SLC27A2 Reference - - - - - - - - SLC27A2 chr15 51204394 51204394 - T 17/27(0.61) 1528 44 het unknown insertion chr15 - 0.42 0.569728 0.3358 intronic AP4E1 Reference - - - - - - - - AP4E1 chr15 51240399 51240409 TGCAGTGACTT - 23/11(0.32) 468 34 het unknown deletion chr15 rs144809125 0.46 0.181011 0.3456 intronic AP4E1 Reference - - - - - - - - AP4E1 chr15 51293164 51293164 - T 2/3(0.60) 124 5 het unknown insertion chr15 - 0.59 - 0.3039 intronic AP4E1 Reference - - - - - - - - AP4E1 chr15 51386893 51386901 CGGGCGGCG - 1/3(0.75) 113 4 het unknown deletion chr15 rs201887319 0.46 - 0.1005 intronic TNFAIP8L3 Reference - - - - - - - - TNFAIP8L3 chr15 51519945 51519945 - AAG 9/12(0.57) 653 21 het unknown insertion chr15 rs28892005 - 0.651382 0.4363 intronic CYP19A1 Reference - - - - - - - - CYP19A1 chr15 51675881 51675881 A - 1/3(0.75) 114 4 het unknown deletion chr15 rs11306244 0.29 - 0.2304 intronic GLDN Reference - - - - - - - - GLDN chr15 51751092 51751097 AGCAGC - 0/25(1.00) 1321 25 hom unknown deletion chr15 rs111734926 - - 0.2475 intronic DMXL2 Reference - - - - - - - - DMXL2 chr15 52416940 52416941 CT - 15/13(0.46) 594 28 het unknown deletion chr15 - - - - intronic GNB5 Reference - - - - - - - - GNB5 chr15 52540784 52540785 CA - 24/5(0.17) 73 29 het unknown deletion chr15 - - - 0.0123 intronic MYO5C Reference - - - - - - - - MYO5C chr15 52540804 52540805 CT - 31/5(0.14) 47 36 het unknown deletion chr15 - - - - intronic MYO5C Reference - - - - - - - - MYO5C chr15 52548784 52548784 - CACACG 1/17(0.94) 584 18 het unknown insertion chr15 - - - 0.0123 intronic MYO5C Reference - - - - - - - - MYO5C chr15 52548784 52548784 - CACACACACACG 1/17(0.94) 584 18 het unknown insertion chr15 - - - 0.0098 intronic MYO5C Reference - - - - - - - - MYO5C chr15 52892478 52892478 T - 0/16(1.00) 322 16 hom unknown deletion chr15 rs35694811 - - 0.3750 intronic FAM214A Reference - - - - - - - - FAM214A chr15 53815528 53815529 AG - 14/13(0.48) 552 27 het unknown deletion chr15 - - 0.129952 0.0833 intronic WDR72 Reference - - - - - - - - WDR72 chr15 57523564 57523564 T - 14/18(0.56) 390 32 het unknown deletion chr15 rs3838866 - - 0.3431 intronic TCF12 Reference - - - - - - - - TCF12 chr15 57967286 57967286 T - 35/38(0.52) 503 73 het unknown deletion chr15 rs5812908 - - 0.4240 intronic GCOM1;MYZAP Reference - - - - - - - - GCOM1;MYZAP chr15 58853213 58853214 AC - 0/44(1.00) 2387 44 hom unknown deletion chr15 rs71964604 0.92 0.944169 0.4118 intronic LIPC Reference - - - - - - - - LIPC chr15 59172382 59172382 - G 7/13(0.65) 674 20 het unknown insertion chr15 rs34042545 0.42 - 0.2255 intronic SLTM Reference - - - - - - - - SLTM chr15 59464310 59464310 - T 5/3(0.38) 105 8 het unknown insertion chr15 rs143882806 0.63 - 0.3824 intronic MYO1E Reference - - - - - - - - MYO1E chr15 59931373 59931377 AAAGT - 6/5(0.45) 203 11 het unknown deletion chr15 rs145493984 0.25 0.060940 0.1814 intronic GTF2A2 Reference - - - - - - - - GTF2A2 chr15 59972552 59972552 - T 6/7(0.54) 116 13 het unknown insertion chr15 rs6151508 0.29 0.082246 0.2132 intronic BNIP2 Reference - - - - - - - - BNIP2 chr15 62539153 62539153 - GG 0/32(1.00) 1870 32 hom unknown insertion chr15 rs113348682 - - 0.2549 intergenic C2CD4B;MGC15885 Reference - - - - - - - - MGC15885(dist=390218);C2CD4B(dist=81671) chr15 63075919 63075924 TCTGTG - 0/6(1.00) 119 6 het unknown deletion chr15 rs111436593 - - 0.3211 intronic TLN2 Reference - - - - - - - - TLN2 chr15 63075921 63075926 TGTGTG - 0/3(1.00) 51 3 het unknown deletion chr15 rs66638835 - - 0.3260 intronic TLN2 Reference - - - - - - - - TLN2 chr15 63075921 63075928 TGTGTGTG - 0/3(1.00) 51 3 het unknown deletion chr15 - - - 0.0025 intronic TLN2 Reference - - - - - - - - TLN2 chr15 63131237 63131237 - AG 17/6(0.26) 268 23 het unknown insertion chr15 rs10679176 0.30 - 0.3284 intronic TLN2 Reference - - - - - - - - TLN2 chr15 63363401 63363401 - ATTTT 0/11(1.00) 375 11 het unknown insertion chr15 rs201620283 - - 0.2230 3-UTR TPM1 Reference - - - - - - - - TPM1 chr15 63363401 63363401 - ATTTTGTTTT 0/11(1.00) 375 11 het unknown insertion chr15 - - - 0.1275 3-UTR TPM1 Reference - - - - - - - - TPM1 chr15 63446200 63446205 AAAATT - 0/16(1.00) 841 16 hom unknown deletion chr15 rs59953192 0.47 0.109650 0.3015 3-UTR RPS27L Reference - - - - - - - - RPS27L chr15 63555603 63555619 GAATACACATTTCACTA - 0/13(1.00) 675 13 hom unknown deletion chr15 rs3837732 - - 0.3064 intronic RAB8B Reference - - - - - - - - RAB8B chr15 64445682 64445682 C - 9/9(0.50) 403 18 het unknown deletion chr15 rs34975001 0.81 - 0.3873 intronic SNX22 Reference - - - - - - - - SNX22 chr15 64693149 64693149 - T 0/32(1.00) 965 32 hom unknown insertion chr15 rs11380356 0.94 - 0.3799 intronic TRIP4 Reference - - - - - - - - TRIP4 chr15 64972761 64972762 TG - 5/2(0.29) 50 7 het unknown deletion chr15 - - - 0.0711 intronic ZNF609 Reference - - - - - - - - ZNF609 chr15 64983838 64983844 TTTTTTT - 12/23(0.66) 148 35 het unknown deletion chr15 - - - 0.0221 intronic OAZ2 Reference - - - - - - - - OAZ2 chr15 65054562 65054562 - G 0/73(1.00) 3070 73 hom unknown insertion chr15 - - 0.999163 0.5074 intronic RBPMS2 Reference - - - - - - - - RBPMS2 chr15 65054571 65054571 - G 0/77(1.00) 3070 77 hom unknown insertion chr15 rs71133474 - 0.999448 0.5221 intronic RBPMS2 Reference - - - - - - - - RBPMS2 chr15 65623124 65623124 - TCTA 0/12(1.00) 688 12 hom unknown insertion chr15 rs3058049 0.87 0.355826 0.4314 intronic IGDCC3 Reference - - - - - - - - IGDCC3 chr15 65686583 65686583 T - 2/6(0.75) 193 8 het unknown deletion chr15 rs80032863 - - 0.2892 intronic IGDCC4 Reference - - - - - - - - IGDCC4 chr15 65782451 65782451 - T 0/14(1.00) 839 14 hom unknown insertion chr15 rs60062953 0.96 - 0.3578 intronic DPP8 Reference - - - - - - - - DPP8 chr15 65874368 65874368 - A 2/17(0.89) 265 19 het unknown insertion chr15 - - - 0.3529 intronic VWA9 Reference - - - - - - - - VWA9 chr15 66625725 66625728 TCAC - 6/5(0.45) 203 11 het unknown deletion chr15 rs3082917 0.39 - 0.2892 3-UTR DIS3L Reference - - - - - - - - DIS3L chr15 66679649 66679649 - C 14/19(0.58) 623 33 het unknown insertion chr15 - 0.39 - 0.2500 5-UTR MAP2K1 Reference - - - - - - - - MAP2K1 chr15 66786707 66786709 GAG - 5/7(0.58) 310 12 het unknown deletion chr15 rs79227224 0.38 - 0.2892 intronic SNAPC5 Reference - - - - - - - - SNAPC5 chr15 67782441 67782446 GGAAAT - 0/36(1.00) 1945 36 hom unknown deletion chr15 rs141893673 0.77 0.869826 0.4069 ncRNA_intronic IQCH-AS1 Reference - - - - - - - - IQCH-AS1 chr15 67951229 67951229 A - 0/62(1.00) 1562 62 hom unknown deletion chr15 rs11353440 0.99 - 0.3873 intronic MAP2K5 Reference - - - - - - - - MAP2K5 chr15 68434211 68434211 - T 5/5(0.50) 34 10 het unknown insertion chr15 - - - 0.0098 intronic PIAS1 Reference - - - - - - - - PIAS1 chr15 68641363 68641363 G - 0/27(1.00) 849 27 hom unknown deletion chr15 rs61119953 - - 0.4289 intronic ITGA11 Reference - - - - - - - - ITGA11 chr15 69112971 69112971 - CA 3/9(0.75) 488 12 het unknown insertion chr15 rs35802209 0.86 - 0.3578 intronic ANP32A Reference - - - - - - - - ANP32A chr15 69709635 69709635 - TGAA 16/15(0.48) 811 31 het unknown insertion chr15 rs140648434 0.07 - 0.0490 intronic KIF23 Reference - - - - - - - - KIF23 chr15 69728670 69728674 ATTTC - 6/5(0.45) 203 11 het unknown deletion chr15 rs150429444 0.13 - 0.1348 intronic KIF23 Reference - - - - - - - - KIF23 chr15 71276481 71276483 CAA - 10/11(0.52) 504 21 het nonframeshift deletion chr15 rs3834543 - 0.410703 0.5196 exonic LRRC49 Reference - - - - - - - - LRRC49,NM_017691,exon11,c.1054_1056del,p.352_352del;LRRC49,NM_001199017,exon11,c.1069_1071del,p.357_357del;LRRC49,NM_001284357,exon12,c.1024_1026del,p.342_342del;LRRC49,NM_001199018,exon12,c.922_924del,p.308_308del chr15 72105929 72105929 C - 0/138(1.00) 3070 138 hom splicing deletion chr15 rs11351249 0.99 0.999831 0.5245 splicing NR2E3 Reference - - - - - - - - NM_016346,exon7,c.948-1C>-;NM_014249,exon7,c.948-1C>-) chr15 72142280 72142280 - TTTATGAACCCATTCACTAT 10/10(0.50) 529 20 het unknown insertion chr15 rs143211032 - - 0.2525 intronic MYO9A Reference - - - - - - - - MYO9A chr15 72152225 72152225 G - 1/5(0.83) 218 6 het unknown deletion chr15 rs3214958 0.37 - 0.2868 intronic MYO9A Reference - - - - - - - - MYO9A chr15 72559244 72559245 AC - 15/14(0.48) 646 29 het unknown deletion chr15 rs67268368 0.37 - 0.3897 intronic PARP6 Reference - - - - - - - - PARP6 chr15 72559265 72559265 - A 13/14(0.52) 670 27 het unknown insertion chr15 rs36102511 0.03 - 0.0588 intronic PARP6 Reference - - - - - - - - PARP6 chr15 74176454 74176454 A - 0/53(1.00) 2226 53 hom unknown deletion chr15 rs66619071 - 0.953754 0.4926 intronic TBC1D21 Reference - - - - - - - - TBC1D21 chr15 74180876 74180890 TCCTCCTCCTCCTCT - 10/14(0.58) 634 24 het unknown deletion chr15 rs140293674 - 0.108147 0.0956 intronic TBC1D21 Reference - - - - - - - - TBC1D21 chr15 74365177 74365180 GAGT - 18/5(0.22) 168 23 het unknown deletion chr15 - - - 0.1961 intronic GOLGA6A Reference - - - - - - - - GOLGA6A chr15 74486511 74486513 GAG - 3/4(0.57) 160 7 het unknown deletion chr15 rs148231779 0.48 - 0.3113 intronic STRA6 Reference - - - - - - - - STRA6 chr15 75130016 75130016 G - 0/88(1.00) 2844 88 hom unknown deletion chr15 rs36112106 0.60 - 0.4216 intronic ULK3 Reference - - - - - - - - ULK3 chr15 75336418 75336419 TT - 1/3(0.75) 88 4 het unknown deletion chr15 rs56694743 - - 0.2034 intronic PPCDC Reference - - - - - - - - PPCDC chr15 75651022 75651022 - CCACATGCTGCCCAGCCCATA 0/42(1.00) 2398 42 hom unknown insertion chr15 rs149997575 0.61 0.642572 0.3922 intronic MAN2C1 Reference - - - - - - - - MAN2C1 chr15 76078004 76078004 - T 7/3(0.30) 99 10 het unknown insertion chr15 rs201398789 - - 0.3039 intergenic MIR4313;UBE2Q2 Reference - - - - - - - - MIR4313(dist=23348);UBE2Q2(dist=57623) chr15 76197071 76197071 - TCT 0/17(1.00) 1028 17 hom unknown insertion chr15 rs3073843 0.99 - 0.4681 intronic FBXO22 Reference - - - - - - - - FBXO22 chr15 76248428 76248428 T - 0/29(1.00) 458 29 hom unknown deletion chr15 rs10711025 - - 0.3897 intronic NRG4 Reference - - - - - - - - NRG4 chr15 76603611 76603611 A - 0/20(1.00) 1049 20 hom unknown deletion chr15 rs3215142 0.48 0.210548 0.3358 intronic ETFA Reference - - - - - - - - ETFA chr15 77328108 77328108 - A 0/12(1.00) 674 12 hom unknown insertion chr15 - - 0.999914 0.4755 intronic PSTPIP1 Reference - - - - - - - - PSTPIP1 chr15 78457537 78457537 - T 14/9(0.39) 86 23 het unknown insertion chr15 rs111849227 - - 0.2843 intronic IDH3A Reference - - - - - - - - IDH3A chr15 78472157 78472157 - CA 1/3(0.75) 147 4 het unknown insertion chr15 rs149717924 - - 0.2034 intronic ACSBG1 Reference - - - - - - - - ACSBG1 chr15 78557087 78557087 C - 0/25(1.00) 691 25 hom unknown deletion chr15 rs66489434 - 0.996143 0.3946 5-UTR DNAJA4 Reference - - - - - - - - DNAJA4 chr15 78587112 78587114 TTG - 0/16(1.00) 841 16 hom unknown deletion chr15 rs138711577 - - 0.3113 intronic WDR61 Reference - - - - - - - - WDR61 chr15 78913068 78913070 CAG - 0/18(1.00) 951 18 hom nonframeshift deletion chr15 rs66793222 - - 0.3456 exonic CHRNA3 Reference - - - - - - - - CHRNA3,NM_001166694,exon1,c.67_69del,p.23_23del;CHRNA3,NM_000743,exon1,c.67_69del,p.23_23del chr15 79054918 79054918 - G 5/5(0.50) 157 10 het unknown insertion chr15 - 0.36 - 0.3260 intronic ADAMTS7 Reference - - - - - - - - ADAMTS7 chr15 79231526 79231526 - G 21/38(0.64) 2155 59 het unknown insertion chr15 rs151024560 0.37 - 0.2819 intronic CTSH Reference - - - - - - - - CTSH chr15 80214977 80214979 TGC - 0/14(1.00) 730 14 hom unknown deletion chr15 rs78016257 0.24 - 0.2574 intronic ST20;ST20-MTHFS Reference - - - - - - - - ST20;ST20-MTHFS chr15 80445514 80445518 GGAGT - 20/11(0.35) 442 31 het unknown deletion chr15 - - - 0.0858 intronic FAH Reference - - - - - - - - FAH chr15 80465249 80465249 A - 25/19(0.43) 877 44 het unknown deletion chr15 rs58363292 0.76 - 0.4510 intronic FAH Reference - - - - - - - - FAH chr15 80478600 80478600 C - 41/19(0.32) 629 60 het unknown deletion chr15 rs200464452 0.13 0.104043 0.1348 3-UTR FAH Reference - - - - - - - - FAH chr15 80762527 80762527 C - 0/85(1.00) 3070 85 hom unknown deletion chr15 rs5814026 - - 0.5221 intronic ARNT2 Reference - - - - - - - - ARNT2 chr15 81426236 81426241 TGCTGC - 6/5(0.45) 203 11 het unknown deletion chr15 rs67632824 - - 0.1716 upstream C15orf26 Reference - - - - - - - - C15orf26 chr15 81430287 81430287 - A 3/4(0.57) 100 7 het unknown insertion chr15 rs80206514 0.75 - 0.3260 intronic C15orf26 Reference - - - - - - - - C15orf26 chr15 81582733 81582739 GCTGGGA - 6/7(0.54) 307 13 het unknown deletion chr15 rs145830796 - - 0.0147 intronic IL16 Reference - - - - - - - - IL16 chr15 81654757 81654757 - G 0/24(1.00) 1468 24 hom unknown insertion chr15 rs5814058 0.60 - 0.3799 intronic TMC3 Reference - - - - - - - - TMC3 chr15 83334129 83334154 ACACACACACACACACACACACACAC - 8/4(0.33) 147 12 het unknown deletion chr15 - - - 0.2059 ncRNA_intronic LOC283692 Reference - - - - - - - - LOC283692 chr15 83679324 83679324 T - 2/3(0.60) 55 5 het unknown deletion chr15 rs74792500 0.02 - 0.0270 intronic C15orf40 Reference - - - - - - - - C15orf40 chr15 84373319 84373319 - AG 0/26(1.00) 1594 26 hom unknown insertion chr15 rs3079595 - - 0.5319 intronic ADAMTSL3 Reference - - - - - - - - ADAMTSL3 chr15 84749821 84749823 TTA - 0/25(1.00) 1321 25 hom unknown deletion chr15 rs139071720 0.73 - 0.3971 ncRNA_intronic EFTUD1P1 Reference - - - - - - - - EFTUD1P1 chr15 85438311 85438311 - TTG 21/18(0.46) 976 39 het nonframeshift insertion chr15 rs151038463 0.19 0.301726 0.2451 exonic SLC28A1 Reference - - - - - - - - SLC28A1,NM_201651,exon6,c.418_419insTTG,p.L140delinsLV;SLC28A1,NM_004213,exon6,c.418_419insTTG,p.L140delinsLV chr15 85476223 85476225 TAT - 0/44(1.00) 2358 44 hom unknown deletion chr15 rs3217613 - - 0.4265 intronic SLC28A1 Reference - - - - - - - - SLC28A1 chr15 85487961 85487961 C - 0/146(1.00) 3070 146 hom unknown deletion chr15 rs11479919 - - 0.4975 intronic SLC28A1 Reference - - - - - - - - SLC28A1 chr15 86278771 86278771 C - 29/12(0.29) 493 41 het unknown deletion chr15 rs11308004 0.33 - 0.2598 intronic AKAP13 Reference - - - - - - - - AKAP13 chr15 86702078 86702078 A - 16/10(0.38) 329 26 het unknown deletion chr15 rs138607491 0.31 - 0.2353 intronic AGBL1 Reference - - - - - - - - AGBL1 chr15 88690737 88690739 CTT - 4/5(0.56) 209 9 het unknown deletion chr15 rs66493620 - - 0.0539 intronic NTRK3 Reference - - - - - - - - NTRK3 chr15 89071124 89071124 - AAC 14/3(0.18) 65 17 het unknown insertion chr15 rs34611303 - - 0.3088 intronic DET1 Reference - - - - - - - - DET1 chr15 89386544 89386544 G - 0/51(1.00) 1833 51 hom unknown deletion chr15 rs11324188 - 0.999915 0.4338 intronic ACAN Reference - - - - - - - - ACAN chr15 89857711 89857711 - TACAAG 11/5(0.31) 226 16 het unknown insertion chr15 rs71464462 - - 0.3162 intronic FANCI Reference - - - - - - - - FANCI chr15 89864316 89864316 - CTAC 27/23(0.46) 1257 50 het unknown insertion chr15 rs2307433 - 0.575811 0.4216 intronic POLG Reference - - - - - - - - POLG chr15 89869768 89869768 - C 15/5(0.25) 182 20 het unknown insertion chr15 rs3176183 0.29 - 0.2794 intronic POLG Reference - - - - - - - - POLG chr15 90173734 90173734 - AG 15/7(0.32) 334 22 het unknown insertion chr15 rs35820949 - 0.579060 0.3039 intronic KIF7 Reference - - - - - - - - KIF7 chr15 90274639 90274639 - G 31/19(0.38) 674 50 het unknown insertion chr15 rs5814401 0.23 - 0.2402 intronic WDR93 Reference - - - - - - - - WDR93 chr15 90320121 90320144 AGGGGCAGGGGCAAGGGCAGGGGC - 1/7(0.88) 292 8 het nonframeshift deletion chr15 rs200021459 0.90 0.662685 0.0662 exonic MESP2 Reference - - - - - - - - MESP2,NM_001039958,exon1,c.533_556del,p.178_186del chr15 90328774 90328774 - AC 1/46(0.98) 2799 47 hom unknown insertion chr15 rs71464487 0.25 0.674521 0.2941 intronic ANPEP Reference - - - - - - - - ANPEP chr15 90765094 90765094 G - 8/10(0.56) 458 18 het unknown deletion chr15 rs66795544 0.82 - 0.3995 intronic SEMA4B Reference - - - - - - - - SEMA4B chr15 90774448 90774451 AGAG - 108/101(0.48) 3070 209 het unknown deletion chr15 rs34604050 0.76 0.458460 0.5147 intronic CIB1 Reference - - - - - - - - CIB1 chr15 91043193 91043202 TGTTTTGTTT - 6/11(0.65) 515 17 het unknown deletion chr15 rs72311245 - - 0.1201 intronic IQGAP1 Reference - - - - - - - - IQGAP1 chr15 91358271 91358271 - GAA 11/9(0.45) 466 20 het unknown insertion chr15 rs10685387 - - 0.4853 intronic BLM Reference - - - - - - - - BLM chr15 91435172 91435186 GTGGTCCCACCCCTG - 27/26(0.49) 1236 53 het unknown deletion chr15 rs146988155 - - 0.2966 intronic FES Reference - - - - - - - - FES chr15 91491206 91491206 - CT 0/11(1.00) 650 11 hom unknown insertion chr15 rs10635983 - - 0.4020 intronic UNC45A Reference - - - - - - - - UNC45A chr15 91513833 91513835 GGA - 0/44(1.00) 2387 44 hom unknown deletion chr15 rs139256619 - - 0.4338 ncRNA_intronic PRC1-AS1 Reference - - - - - - - - PRC1-AS1 chr15 91543282 91543283 TG - 12/10(0.45) 446 22 het unknown deletion chr15 rs113248351 0.46 - 0.4069 intronic VPS33B Reference - - - - - - - - VPS33B chr15 91549512 91549536 GGGGCCCACAGCCTGGTATAAGCAG - 12/5(0.29) 188 17 het unknown deletion chr15 rs59910084 - - 0.1225 intronic VPS33B Reference - - - - - - - - VPS33B chr15 92397107 92397118 GCGGCGGCGGCG - 14/6(0.30) 234 20 het unknown deletion chr15 - - - 0.0466 5-UTR SLCO3A1 Reference - - - - - - - - SLCO3A1 chr15 92638333 92638333 T - 5/5(0.50) 206 10 het unknown deletion chr15 rs151286610 0.42 - 0.2500 intronic SLCO3A1 Reference - - - - - - - - SLCO3A1 chr15 93198679 93198684 TGGAGC - 0/26(1.00) 1393 26 hom nonframeshift deletion chr15 rs68056278 - 0.936369 0.4828 exonic FAM174B Reference - - - - - - - - FAM174B,NM_207446,exon1,c.206_211del,p.69_71del chr15 93254569 93254570 CC - 2/4(0.67) 121 6 het unknown deletion chr15 rs55918423 0.09 - 0.0196 intergenic FAM174B;ASB9P1 Reference - - - - - - - - ASB9P1(dist=84144);FAM174B(dist=55538) chr15 93616283 93616283 - AGG 1/42(0.98) 2500 43 hom unknown insertion chr15 rs112633977 - - 0.4363 5-UTR RGMA Reference - - - - - - - - RGMA chr15 94841440 94841440 - GTT 8/4(0.33) 175 12 het unknown insertion chr15 rs34741618 0.24 - 0.2230 5-UTR MCTP2 Reference - - - - - - - - MCTP2 chr15 94927494 94927494 T - 6/6(0.50) 165 12 het unknown deletion chr15 rs3217405 0.73 - 0.3456 intronic MCTP2 Reference - - - - - - - - MCTP2 chr15 95019835 95019838 AGAT - 8/5(0.38) 197 13 het unknown deletion chr15 rs10574224 - - 0.1127 intronic MCTP2 Reference - - - - - - - - MCTP2 chr15 95019875 95019882 AGATAGAC - 22/22(0.50) 839 44 het unknown deletion chr15 rs67761287 - - 0.0221 intronic MCTP2 Reference - - - - - - - - MCTP2 chr15 98512623 98512623 T - 29/18(0.38) 469 47 het unknown deletion chr15 rs5814833 0.56 0.607925 0.4265 intronic ARRDC4 Reference - - - - - - - - ARRDC4 chr15 98995052 98995052 - T 0/67(1.00) 3070 67 hom unknown insertion chr15 rs77262002 - 0.996208 0.5392 intronic FAM169B Reference - - - - - - - - FAM169B chr15 99478505 99478505 - C 0/13(1.00) 734 13 hom unknown insertion chr15 - - 0.985787 0.4069 intronic IGF1R Reference - - - - - - - - IGF1R chr15 99511804 99511804 - C 0/61(1.00) 3070 61 hom frameshift insertion chr15 rs5814919 0.49 0.423255 0.4877 exonic PGPEP1L Reference - - - - - - - - PGPEP1L,NM_001102612,exon5,c.493dupG,p.V165fs;PGPEP1L,NM_001167902,exon5,c.331dupG,p.V111fs chr15 99514433 99514440 GGGGGGGT - 0/15(1.00) 704 15 hom unknown deletion chr15 rs201352743 0.67 - 0.1618 intronic PGPEP1L Reference - - - - - - - - PGPEP1L chr15 99679490 99679493 AGAT - 53/36(0.40) 1682 89 het unknown deletion chr15 rs34077294 0.09 0.304202 0.0711 intronic TTC23 Reference - - - - - - - - TTC23 chr15 100243488 100243488 T - 0/50(1.00) 1796 50 hom unknown deletion chr15 rs34131461 - 0.625840 0.4118 intronic MEF2A Reference - - - - - - - - MEF2A chr15 100252710 100252715 CAGCAG - 24/19(0.44) 845 43 het nonframeshift deletion chr15 - - - 0.2206 exonic MEF2A Reference - - - - - - - - MEF2A,NM_001171894,exon12,c.1228_1233del,p.410_411del;MEF2A,NM_005587,exon11,c.1234_1239del,p.412_413del;MEF2A,NM_001130928,exon8,c.1024_1029del,p.342_343del;MEF2A,NM_001130926,exon10,c.1228_1233del,p.410_411del;MEF2A,NM_001130927,exon10,c.1048_1053del,p.350_351del chr15 100516084 100516084 - T 5/4(0.44) 185 9 het unknown insertion chr15 rs77083702 0.49 - 0.3456 intronic ADAMTS17 Reference - - - - - - - - ADAMTS17 chr15 100693032 100693032 - TT 24/20(0.45) 272 44 het unknown insertion chr15 - - - 0.2868 intronic ADAMTS17 Reference - - - - - - - - ADAMTS17 chr15 101550862 101550862 T - 4/26(0.87) 124 30 het unknown deletion chr15 rs11300776 - - 0.3701 intronic LRRK1 Reference - - - - - - - - LRRK1 chr15 101591858 101591858 G - 0/32(1.00) 1132 32 hom unknown deletion chr15 rs10710683 - - 0.5196 intronic LRRK1 Reference - - - - - - - - LRRK1 chr15 101601367 101601367 - ACTT 45/40(0.47) 2222 85 het unknown insertion chr15 rs148929418 - 0.407173 0.2206 intronic LRRK1 Reference - - - - - - - - LRRK1 chr15 101929633 101929633 T - 19/40(0.68) 478 59 het unknown deletion chr15 - - - 0.3260 intronic PCSK6 Reference - - - - - - - - PCSK6 chr15 102292783 102292786 CTCA - 7/3(0.30) 96 10 het unknown deletion chr15 rs61084368 - - 0.3015 intergenic TARSL2;OR4F6 Reference - - - - - - - - TARSL2(dist=28138);OR4F6(dist=53137) chr16 103449 103449 - G 0/48(1.00) 2980 48 hom unknown insertion chr16 - - 0.999840 0.5392 intronic POLR3K Reference - - - - - - - - POLR3K chr16 108796 108796 - G 0/38(1.00) 2229 38 hom unknown insertion chr16 rs75176433 - 0.999758 0.5196 intronic RHBDF1 Reference - - - - - - - - RHBDF1 chr16 113883 113883 - CC 0/75(1.00) 3070 75 hom unknown insertion chr16 - - - 0.4583 intronic RHBDF1 Reference - - - - - - - - RHBDF1 chr16 113887 113887 C - 0/67(1.00) 2652 67 hom unknown deletion chr16 rs11285099 - - 0.4436 intronic RHBDF1 Reference - - - - - - - - RHBDF1 chr16 129266 129266 - T 23/23(0.50) 1121 46 het unknown insertion chr16 - 0.10 0.067650 0.0907 5-UTR MPG Reference - - - - - - - - MPG chr16 138772 138772 - G 0/93(1.00) 3070 93 hom unknown insertion chr16 rs75244038 - - 0.5490 exonic NPRL3 Reference - - - - - - - - NPRL3 chr16 173803 173803 G - 2/4(0.67) 128 6 het unknown deletion chr16 - - - 0.0368 intronic NPRL3 Reference - - - - - - - - NPRL3 chr16 216190 216190 - G 23/18(0.44) 854 41 het unknown insertion chr16 rs78498908 0.73 - 0.3333 intronic HBM Reference - - - - - - - - HBM chr16 338332 338332 - C 15/18(0.55) 784 33 het unknown insertion chr16 - 0.18 - 0.2500 intronic AXIN1 Reference - - - - - - - - AXIN1 chr16 343979 343979 - G 1/3(0.75) 137 4 het unknown insertion chr16 - - - 0.1201 intronic AXIN1 Reference - - - - - - - - AXIN1 chr16 419283 419283 - G 0/29(1.00) 1679 29 hom unknown insertion chr16 rs11434190 - - 0.4926 intronic MRPL28 Reference - - - - - - - - MRPL28 chr16 456239 456239 - C 0/22(1.00) 1272 22 hom unknown insertion chr16 rs11391097 - - 0.4093 intronic DECR2 Reference - - - - - - - - DECR2 chr16 456291 456291 - C 1/42(0.98) 2056 43 hom unknown insertion chr16 rs11391098 - - 0.4240 intronic DECR2 Reference - - - - - - - - DECR2 chr16 524962 524964 ATT - 25/25(0.50) 1190 50 het unknown deletion chr16 rs3837776 0.23 0.072187 0.2108 5-UTR RAB11FIP3 Reference - - - - - - - - RAB11FIP3 chr16 538720 538720 - C 2/3(0.60) 134 5 het unknown insertion chr16 rs138125235 0.22 - 0.1838 intronic RAB11FIP3 Reference - - - - - - - - RAB11FIP3 chr16 539088 539088 - AA 8/11(0.58) 596 19 het unknown insertion chr16 rs3830847 - - 0.3799 intronic RAB11FIP3 Reference - - - - - - - - RAB11FIP3 chr16 706010 706010 - A 0/12(1.00) 713 12 hom unknown insertion chr16 rs143896809 0.98 - 0.3995 intronic WDR90 Reference - - - - - - - - WDR90 chr16 711546 711546 G - 0/71(1.00) 2041 71 hom unknown deletion chr16 rs11284424 0.98 - 0.5441 intronic WDR90 Reference - - - - - - - - WDR90 chr16 732288 732288 C - 59/54(0.48) 2135 113 het unknown deletion chr16 rs3216838 0.72 0.490572 0.5270 3-UTR JMJD8 Reference - - - - - - - - JMJD8 chr16 773292 773292 C - 0/28(1.00) 779 28 hom unknown deletion chr16 rs35843452 0.77 - 0.4877 intronic CCDC78 Reference - - - - - - - - CCDC78 chr16 773313 773313 - C 0/21(1.00) 621 21 hom unknown insertion chr16 - - - 0.4412 intronic CCDC78 Reference - - - - - - - - CCDC78 chr16 774046 774063 GGGGCAGTGGGTGGGTGG - 0/19(1.00) 1006 19 hom unknown deletion chr16 rs145548033 0.76 - 0.4167 intronic CCDC78 Reference - - - - - - - - CCDC78 chr16 839949 839949 - T 0/115(1.00) 3070 115 hom unknown insertion chr16 rs11436757 0.56 - 0.3725 intronic CHTF18 Reference - - - - - - - - CHTF18 chr16 943317 943317 - T 0/48(1.00) 2670 48 hom unknown insertion chr16 rs113394825 0.44 - 0.3309 intronic LMF1 Reference - - - - - - - - LMF1 chr16 1266803 1266803 - T 0/17(1.00) 1028 17 hom unknown insertion chr16 rs11395347 - - 0.4510 intronic CACNA1H Reference - - - - - - - - CACNA1H chr16 1291717 1291717 - G 20/9(0.31) 411 29 het unknown insertion chr16 rs202230226 - - 0.2941 intronic TPSAB1 Reference - - - - - - - - TPSAB1 chr16 1291754 1291764 CTGGGCTCCCT - 11/3(0.21) 111 14 het unknown deletion chr16 - - - 0.1152 intronic TPSAB1 Reference - - - - - - - - TPSAB1 chr16 1311513 1311513 - GGCA 0/54(1.00) 3070 54 hom unknown insertion chr16 rs3085832 0.87 - 0.4902 intergenic TPSD1;UBE2I Reference - - - - - - - - TPSD1(dist=3019);UBE2I(dist=47641) chr16 1358609 1358628 TGAGGGAGGGAGGGAATTAG - 0/22(1.00) 1093 22 hom unknown deletion chr16 rs148430996 - - 0.3897 upstream UBE2I Reference - - - - - - - - UBE2I chr16 1396789 1396806 GCAGGTGGGGCCAGCGGG - 0/15(1.00) 767 15 hom unknown deletion chr16 rs3215518 - - 0.2206 intronic BAIAP3 Reference - - - - - - - - BAIAP3 chr16 1398077 1398077 - CT 0/132(1.00) 3070 132 hom unknown insertion chr16 rs34766513 - 0.900192 0.5123 intronic BAIAP3 Reference - - - - - - - - BAIAP3 chr16 1500708 1500708 - C 0/20(1.00) 1153 20 hom unknown insertion chr16 - 0.24 0.378686 0.3431 intronic CLCN7 Reference - - - - - - - - CLCN7 chr16 1509323 1509324 AA - 5/9(0.64) 320 14 het unknown deletion chr16 - - - 0.2206 intronic CLCN7 Reference - - - - - - - - CLCN7 chr16 1509359 1509359 - AA 1/3(0.75) 137 4 het unknown insertion chr16 - - - 0.0098 intronic CLCN7 Reference - - - - - - - - CLCN7 chr16 1717633 1717650 GCTCTGGAAGAACTTAGC - 3/3(0.50) 129 6 het unknown deletion chr16 rs139974370 0.13 - 0.0809 intronic CRAMP1L Reference - - - - - - - - CRAMP1L chr16 1887888 1887888 T - 10/9(0.47) 385 19 het unknown deletion chr16 rs141132983 0.18 - 0.1005 intronic FAHD1;MEIOB Reference - - - - - - - - MEIOB;FAHD1 chr16 1994931 1994931 - AAGAG 17/21(0.55) 1168 38 het unknown insertion chr16 rs61276345 0.62 0.421069 0.4216 intronic RPL3L Reference - - - - - - - - RPL3L chr16 1996535 1996535 - A 10/12(0.55) 650 22 het unknown insertion chr16 - 0.62 - 0.3848 intronic RPL3L Reference - - - - - - - - RPL3L chr16 2059622 2059622 C - 0/19(1.00) 770 19 hom splicing deletion chr16 rs11366527 0.97 0.998669 0.3407 splicing ZNF598 Reference - - - - - - - - NM_178167,exon4,c.126-1G>-) chr16 2070327 2070327 - A 14/6(0.30) 277 20 het unknown insertion chr16 rs148115495 0.30 0.375653 0.1887 intronic NPW Reference - - - - - - - - NPW chr16 2087452 2087452 - G 15/8(0.35) 115 23 het unknown insertion chr16 - - - 0.0662 intronic SLC9A3R2 Reference - - - - - - - - SLC9A3R2 chr16 2213760 2213760 - T 9/15(0.62) 833 24 het unknown insertion chr16 rs3217255 0.44 - 0.3333 intronic TRAF7 Reference - - - - - - - - TRAF7 chr16 2256048 2256048 C - 11/5(0.31) 126 16 het unknown deletion chr16 rs3217423 0.60 - 0.4461 5-UTR MLST8 Reference - - - - - - - - MLST8 chr16 2318171 2318171 A - 26/58(0.69) 2295 84 het unknown deletion chr16 rs143373048 0.44 - 0.2623 5-UTR RNPS1 Reference - - - - - - - - RNPS1 chr16 2487012 2487012 - T 0/25(1.00) 1531 25 hom unknown insertion chr16 rs34456414 - - 0.4167 intronic CCNF Reference - - - - - - - - CCNF chr16 2499778 2499786 TCCCCTCCG - 2/5(0.71) 168 7 het unknown deletion chr16 - - - 0.0049 intronic CCNF Reference - - - - - - - - CCNF chr16 2821989 2821989 C - 8/9(0.53) 328 17 het unknown deletion chr16 rs3214191 0.49 0.609824 0.3971 3-UTR TCEB2 Reference - - - - - - - - TCEB2 chr16 3117276 3117276 - TG het unknown insertion chr16 - - - - intronic IL32 Reference - - - - - - - - IL32 chr16 3117273 3117276 TGTG - 0/5(1.00) 224 5 het unknown deletion chr16 - - - 0.0833 intronic IL32 Reference - - - - - - - - IL32 chr16 3119297 3119297 - G 58/12(0.17) 232 70 het frameshift insertion chr16 rs144971189 - 0.362460 0.3725 exonic IL32 Reference - - - - - - - - IL32,NM_001012635,exon6,c.449dupG,p.R150fs;IL32,NM_001012631,exon8,c.509dupG,p.R170fs;IL32,NM_001012718,exon7,c.509dupG,p.R170fs;IL32,NM_001012633,exon8,c.338dupG,p.R113fs;IL32,NM_001012632,exon7,c.509dupG,p.R170fs;IL32,NM_001012634,exon6,c.449dupG,p.R150fs;IL32,NM_004221,exon7,c.509dupG,p.R170fs;IL32,NM_001012636,exon5,c.482dupG,p.R161fs chr16 3602228 3602228 G - 0/61(1.00) 2682 61 hom splicing deletion chr16 rs56070390 - 0.999829 0.4338 splicing NLRC3 Reference - - - - - - - - NM_178844,exon12,c.2320-1C>-) chr16 3708283 3708283 T - 24/32(0.57) 271 56 het unknown deletion chr16 rs35081909 - 0.363105 0.2770 intronic TRAP1 Reference - - - - - - - - TRAP1 chr16 3708675 3708675 - AAAC 1/5(0.83) 257 6 het unknown insertion chr16 rs112089957 - - 0.2279 intronic TRAP1 Reference - - - - - - - - TRAP1 chr16 4256756 4256756 C - 59/45(0.43) 1457 104 het unknown deletion chr16 rs58255304 0.24 - 0.2377 intronic SRL Reference - - - - - - - - SRL chr16 4621726 4621726 A - 0/20(1.00) 1062 20 hom unknown deletion chr16 rs35531180 - - 0.5074 intronic C16orf96 Reference - - - - - - - - C16orf96 chr16 4721584 4721586 CAT - 33/22(0.40) 1010 55 het unknown deletion chr16 rs33959252 0.24 - 0.2181 intronic MGRN1 Reference - - - - - - - - MGRN1 chr16 4736081 4736091 TCTGGCTGCGC - 13/14(0.52) 636 27 het unknown deletion chr16 rs144808025 0.68 - 0.3922 intronic MGRN1 Reference - - - - - - - - MGRN1 chr16 4940577 4940577 - A 6/5(0.45) 183 11 het unknown insertion chr16 - - - 0.0074 intronic PPL Reference - - - - - - - - PPL chr16 5037498 5037498 - GGA 7/16(0.70) 186 23 het unknown insertion chr16 - - - 0.0515 intronic SEC14L5 Reference - - - - - - - - SEC14L5 chr16 5037498 5037498 - GGAG 7/16(0.70) 186 23 het unknown insertion chr16 - - - 0.0074 intronic SEC14L5 Reference - - - - - - - - SEC14L5 chr16 5037499 5037499 - GA 25/5(0.17) 181 30 het unknown insertion chr16 - - - 0.0147 intronic SEC14L5 Reference - - - - - - - - SEC14L5 chr16 5122072 5122072 - GTCT 0/48(1.00) 2961 48 hom unknown insertion chr16 rs112683515 - 0.513984 0.4461 intronic ALG1 Reference - - - - - - - - ALG1 chr16 5122191 5122191 - G 0/21(1.00) 1213 21 hom unknown insertion chr16 - - - 0.4069 intronic ALG1 Reference - - - - - - - - ALG1 chr16 7102037 7102037 T - 50/29(0.37) 1073 79 het unknown deletion chr16 rs35212568 0.74 0.485247 0.4118 intronic RBFOX1 Reference - - - - - - - - RBFOX1 chr16 7703785 7703785 - CT 20/22(0.52) 1219 42 het unknown insertion chr16 rs3217052 - - 0.3725 intronic RBFOX1 Reference - - - - - - - - RBFOX1 chr16 8732883 8732883 A - 0/93(1.00) 3070 93 hom unknown deletion chr16 rs5815485 - - 0.4510 intronic METTL22 Reference - - - - - - - - METTL22 chr16 8858701 8858702 CA - 50/16(0.24) 647 66 het unknown deletion chr16 rs112675542 - - 0.0539 intronic ABAT Reference - - - - - - - - ABAT chr16 8875047 8875050 GATG - 8/5(0.38) 197 13 het unknown deletion chr16 rs3217123 - - 0.3701 intronic ABAT Reference - - - - - - - - ABAT chr16 8891312 8891312 A - 0/11(1.00) 469 11 hom unknown deletion chr16 rs34079211 0.98 - 0.3578 intronic TMEM186 Reference - - - - - - - - TMEM186 chr16 8995178 8995178 A - 0/14(1.00) 199 14 hom unknown deletion chr16 - - - 0.2475 intronic USP7 Reference - - - - - - - - USP7 chr16 9010446 9010446 - C 0/35(1.00) 2161 35 hom unknown insertion chr16 rs57510291 - - 0.4118 intronic USP7 Reference - - - - - - - - USP7 chr16 9017061 9017061 - ACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA 0/14(1.00) 839 14 hom unknown insertion chr16 - - - 0.1127 intronic USP7 Reference - - - - - - - - USP7 chr16 10524657 10524659 GAC - 0/62(1.00) 3070 62 hom nonframeshift deletion chr16 rs56252625 0.68 0.589217 0.5221 exonic ATF7IP2 Reference - - - - - - - - ATF7IP2,NM_024997,exon3,c.180_182del,p.60_61del;ATF7IP2,NM_001256160,exon4,c.180_182del,p.60_61del chr16 10525357 10525361 CTTTT - 2/4(0.67) 163 6 het unknown deletion chr16 - - - - intronic ATF7IP2 Reference - - - - - - - - ATF7IP2 chr16 10625606 10625613 ATGAATGA - 0/14(1.00) 730 14 hom unknown deletion chr16 rs149380057 - - 0.3162 3-UTR EMP2 Reference - - - - - - - - EMP2 chr16 10626060 10626060 G - 0/44(1.00) 1097 44 hom unknown deletion chr16 rs35914943 - - 0.5074 3-UTR EMP2 Reference - - - - - - - - EMP2 chr16 10855522 10855522 T - 20/26(0.57) 156 46 het unknown deletion chr16 rs36097495 - - 0.0098 intronic NUBP1 Reference - - - - - - - - NUBP1 chr16 11003165 11003166 CT - 3/8(0.73) 368 11 het unknown deletion chr16 - - - 0.0147 intronic CIITA Reference - - - - - - - - CIITA chr16 11444455 11444455 A - 1/25(0.96) 431 26 hom unknown deletion chr16 rs57767216 - - 0.4044 intronic RMI2 Reference - - - - - - - - RMI2 chr16 11797366 11797369 ACAC - 4/4(0.50) 157 8 het unknown deletion chr16 rs147693005 - - 0.2010 intronic TXNDC11 Reference - - - - - - - - TXNDC11 chr16 15501658 15501658 - T 14/15(0.52) 203 29 het unknown insertion chr16 - - - 0.2721 intronic MPV17L Reference - - - - - - - - MPV17L chr16 15696480 15696480 - AGGAAAGAAGGAGGGAGGCAGAG 0/33(1.00) 2035 33 hom unknown insertion chr16 - - - 0.3211 intronic KIAA0430 Reference - - - - - - - - KIAA0430 chr16 15793626 15793627 AT - 37/29(0.44) 1363 66 het unknown deletion chr16 - - - - intronic NDE1 Reference - - - - - - - - NDE1 chr16 15967361 15967361 - CTA 51/56(0.52) 3070 107 het nonframeshift insertion chr16 rs10656021 0.19 0.063818 0.2475 exonic FOPNL Reference - - - - - - - - FOPNL,NM_144600,exon4,c.434_435insTAG,p.R145delinsSR chr16 16208501 16208501 - ATT 3/3(0.50) 131 6 het unknown insertion chr16 rs143404902 0.05 - 0.0564 intronic ABCC1 Reference - - - - - - - - ABCC1 chr16 16253284 16253284 C - 0/14(1.00) 320 14 hom unknown deletion chr16 rs56822940 - - 0.4240 intronic ABCC6 Reference - - - - - - - - ABCC6 chr16 18859000 18859007 TTTGTAAG - 3/4(0.57) 160 7 het unknown deletion chr16 rs138135805 0.10 - 0.1152 intronic SMG1 Reference - - - - - - - - SMG1 chr16 18865325 18865325 T - 7/8(0.53) 357 15 het unknown deletion chr16 rs143193785 - - 0.1667 intronic SMG1 Reference - - - - - - - - SMG1 chr16 18865327 18865332 GGAGGC - 7/8(0.53) 356 15 het unknown deletion chr16 rs58740437 0.19 - 0.1691 intronic SMG1 Reference - - - - - - - - SMG1 chr16 18866321 18866332 CTGCACCACCTC - 6/4(0.40) 151 10 het unknown deletion chr16 rs66505987 - - 0.1103 intronic SMG1 Reference - - - - - - - - SMG1 chr16 18937479 18937481 AGG - 2/3(0.60) 123 5 het unknown deletion chr16 - - - 0.1078 5-UTR SMG1 Reference - - - - - - - - SMG1 chr16 19455319 19455326 ATGGATGG - 7/4(0.36) 148 11 het unknown deletion chr16 rs144130376 - - 0.4093 intronic TMC5 Reference - - - - - - - - TMC5 chr16 19481221 19481222 TT - 6/10(0.62) 38 16 het unknown deletion chr16 rs58331737 - - 0.3015 intronic TMC5 Reference - - - - - - - - TMC5 chr16 20442169 20442171 GAG - 3/3(0.50) 108 6 het unknown deletion chr16 rs199688612 0.17 - 0.1495 intronic ACSM5 Reference - - - - - - - - ACSM5 chr16 20648572 20648572 - ATAAA 31/9(0.23) 404 40 het unknown insertion chr16 rs5816131 - - 0.2843 intronic ACSM1 Reference - - - - - - - - ACSM1 chr16 21397273 21397273 - TG 9/40(0.82) 2331 49 het unknown insertion chr16 - - - 0.3873 downstream SNX29P1 Reference - - - - - - - - SNX29P1 chr16 21991450 21991451 AG - 2/6(0.75) 267 8 het unknown deletion chr16 rs77032576 0.33 - 0.1912 intronic UQCRC2 Reference - - - - - - - - UQCRC2 chr16 22149613 22149614 TG - 17/3(0.15) 70 20 het unknown deletion chr16 - - - 0.0392 intronic VWA3A Reference - - - - - - - - VWA3A chr16 23768380 23768380 - G 8/4(0.33) 106 12 het unknown insertion chr16 rs5816221 - - 0.4265 intronic CHP2 Reference - - - - - - - - CHP2 chr16 23847748 23847756 GCGCCCTCC - 3/3(0.50) 153 6 het unknown deletion chr16 rs150723603 - - 0.2525 intronic PRKCB Reference - - - - - - - - PRKCB chr16 24185816 24185816 T - 12/22(0.65) 110 34 het unknown deletion chr16 rs72154122 - - 0.1324 intronic PRKCB Reference - - - - - - - - PRKCB chr16 24192021 24192022 AC - 0/28(1.00) 1503 28 hom unknown deletion chr16 rs113575395 0.17 - 0.1740 intronic PRKCB Reference - - - - - - - - PRKCB chr16 24357998 24357998 - G 0/20(1.00) 1134 20 hom unknown insertion chr16 rs5816249 - 0.918770 0.4730 intronic CACNG3 Reference - - - - - - - - CACNG3 chr16 24572885 24572886 TT - 8/7(0.47) 228 15 het unknown deletion chr16 rs34473709 0.28 0.249681 0.2623 intronic RBBP6 Reference - - - - - - - - RBBP6 chr16 24741006 24741008 CGG - 3/3(0.50) 112 6 het unknown deletion chr16 - - - 0.1152 upstream TNRC6A Reference - - - - - - - - TNRC6A chr16 24886886 24886886 - G 8/8(0.50) 197 16 het unknown insertion chr16 - - - 0.0172 intronic SLC5A11 Reference - - - - - - - - SLC5A11 chr16 24921854 24921854 - TT 21/20(0.49) 185 41 het unknown insertion chr16 - - - 0.0417 intronic SLC5A11 Reference - - - - - - - - SLC5A11 chr16 25172307 25172307 - T 0/18(1.00) 304 18 hom unknown insertion chr16 - - - 0.2843 intronic LCMT1 Reference - - - - - - - - LCMT1 chr16 28507398 28507424 GGGACAGCCTCAGGAGGGGAGGAGGCC - 14/4(0.22) 84 18 het nonframeshift deletion chr16 rs148114931 - 0.307751 0.0049 exonic APOBR Reference - - - - - - - - APOBR,NM_018690,exon2,c.1036_1062del,p.346_354del chr16 28600201 28600201 - T 2/4(0.67) 168 6 het unknown insertion chr16 rs139158764 0.10 - 0.0662 intronic CCDC101 Reference - - - - - - - - CCDC101 chr16 28631314 28631314 - TGTG 0/3(1.00) 112 3 het unknown insertion chr16 - - - - intronic SULT1A1 Reference - - - - - - - - SULT1A1 chr16 28631314 28631314 - TGTGTG 0/3(1.00) 112 3 het unknown insertion chr16 - - - 0.2770 intronic SULT1A1 Reference - - - - - - - - SULT1A1 chr16 28842584 28842584 - GTTGT 1/3(0.75) 137 4 het unknown insertion chr16 rs10658897 0.13 - 0.0613 intronic ATXN2L Reference - - - - - - - - ATXN2L chr16 28893725 28893726 CT - 9/3(0.25) 90 12 het unknown deletion chr16 rs5816477 0.13 0.281310 0.0980 intronic ATP2A1 Reference - - - - - - - - ATP2A1 chr16 28993650 28993650 C - 53/46(0.46) 1354 99 het unknown deletion chr16 rs11301233 0.42 0.483786 0.4216 intronic SPNS1 Reference - - - - - - - - SPNS1 chr16 29375985 29375985 - T 19/21(0.53) 173 40 het unknown insertion chr16 - - 0.362482 0.2059 ncRNA_intronic SNX29P2 Reference - - - - - - - - SNX29P2 chr16 29376401 29376402 TG - 44/15(0.25) 576 59 het unknown deletion chr16 - - - 0.0809 downstream SNX29P2 Reference - - - - - - - - SNX29P2 chr16 29791819 29791819 A - 8/7(0.47) 120 15 het unknown deletion chr16 rs35586094 - - 0.4020 3-UTR ZG16 Reference - - - - - - - - ZG16 chr16 29982566 29982566 C - 3/4(0.57) 160 7 het unknown deletion chr16 - - - 0.0074 intronic TMEM219 Reference - - - - - - - - TMEM219 chr16 30098190 30098192 TGA - 1/41(0.98) 2103 42 hom unknown deletion chr16 rs3833842 0.36 - 0.3333 intronic TBX6 Reference - - - - - - - - TBX6 chr16 30768493 30768499 CTCTGGC - 0/13(1.00) 646 13 hom unknown deletion chr16 rs71820772 - - 0.4387 3-UTR PHKG2 Reference - - - - - - - - PHKG2 chr16 30975313 30975313 A - 10/14(0.58) 98 24 het unknown deletion chr16 - - - 0.0074 intronic SETD1A Reference - - - - - - - - SETD1A chr16 31339963 31339966 TATG - 1/2(0.67) 61 3 het unknown deletion chr16 - - - 0.0147 intronic ITGAM Reference - - - - - - - - ITGAM chr16 31343181 31343181 - GTGTGTGCGA 0/12(1.00) 667 12 hom unknown insertion chr16 - - - 0.2745 3-UTR ITGAM Reference - - - - - - - - ITGAM chr16 31388634 31388634 - A 5/3(0.38) 72 8 het unknown insertion chr16 - - - 0.0025 intronic ITGAX Reference - - - - - - - - ITGAX chr16 31734197 31734197 - A 0/21(1.00) 566 21 hom unknown insertion chr16 rs71375941 0.65 - 0.3922 intronic ZNF720 Reference - - - - - - - - ZNF720 chr16 46642115 46642116 GT - 9/2(0.18) 38 11 het unknown deletion chr16 rs147085903 - - 0.0049 intronic SHCBP1 Reference - - - - - - - - SHCBP1 chr16 47684687 47684690 ATTA - 0/23(1.00) 1227 23 hom unknown deletion chr16 rs150516784 0.73 0.336492 0.3456 intronic PHKB Reference - - - - - - - - PHKB chr16 50102618 50102618 - AAAT 0/47(1.00) 2898 47 hom unknown insertion chr16 rs150339464 - - 0.4265 intronic HEATR3 Reference - - - - - - - - HEATR3 chr16 51185040 51185041 GT - 5/3(0.38) 102 8 het unknown deletion chr16 rs200502187 0.02 - - intronic SALL1 Reference - - - - - - - - SALL1 chr16 55844924 55844924 - A 17/22(0.56) 197 39 het splicing insertion chr16 - - - 0.1373 splicing CES1 Reference - - - - - - - - CES1(NM_001025195,exon11,c.1087-2->T;NM_001025194,exon11,c.1084-2->T) chr16 56226052 56226052 - AGCC 5/3(0.38) 125 8 het unknown insertion chr16 rs144057495 0.11 - 0.0368 5-UTR GNAO1 Reference - - - - - - - - GNAO1 chr16 56388262 56388270 AGTAATTGC - 2/3(0.60) 110 5 het unknown deletion chr16 rs111499679 0.36 - 0.2083 intronic GNAO1 Reference - - - - - - - - GNAO1 chr16 56503744 56503745 AA - 4/3(0.43) 79 7 het unknown deletion chr16 rs143511708 0.14 - 0.1201 intronic OGFOD1 Reference - - - - - - - - OGFOD1 chr16 56673436 56673436 - AG 0/32(1.00) 1951 32 hom unknown insertion chr16 rs77397205 - - 0.3775 intronic MT1A Reference - - - - - - - - MT1A chr16 56687032 56687032 T - 10/13(0.57) 167 23 het unknown deletion chr16 rs35231457 - 0.237939 0.3113 3-UTR MT1B Reference - - - - - - - - MT1B chr16 57071227 57071227 C - 1/97(0.99) 2142 98 hom unknown deletion chr16 - - - 0.4387 intronic NLRC5 Reference - - - - - - - - NLRC5 chr16 57111993 57111993 - G 6/5(0.45) 105 11 het unknown insertion chr16 - - 0.335542 0.3162 intronic NLRC5 Reference - - - - - - - - NLRC5 chr16 57249981 57249981 - T 11/16(0.59) 88 27 hom unknown insertion chr16 rs11391063 - 0.256143 0.2451 intronic RSPRY1 Reference - - - - - - - - RSPRY1 chr16 57392508 57392508 G - 2/3(0.60) 44 5 het unknown deletion chr16 rs3214179 - - 0.2868 upstream CCL22 Reference - - - - - - - - CCL22 chr16 57493803 57493808 CATTTG - 4/5(0.56) 209 9 het unknown deletion chr16 rs36209698 0.58 - 0.3897 intronic COQ9 Reference - - - - - - - - COQ9 chr16 57507777 57507777 - C 8/4(0.33) 85 12 het unknown insertion chr16 - - - 0.3775 intronic DOK4 Reference - - - - - - - - DOK4 chr16 57626023 57626026 CATC - 1/4(0.80) 166 5 het unknown deletion chr16 rs200145785 - - 0.1176 intergenic GPR114;GPR56 Reference - - - - - - - - GPR114(dist=14923);GPR56(dist=27884) chr16 57957164 57957164 A - 1/4(0.80) 166 5 het unknown deletion chr16 rs3217335 0.10 - 0.0833 intronic CNGB1 Reference - - - - - - - - CNGB1 chr16 57991124 57991124 C - 4/10(0.71) 286 14 het unknown deletion chr16 rs34759686 0.62 - 0.3701 intronic CNGB1 Reference - - - - - - - - CNGB1 chr16 58019066 58019066 G - 4/5(0.56) 63 9 het unknown deletion chr16 rs35768173 - - 0.2230 intronic TEPP Reference - - - - - - - - TEPP chr16 58313579 58313579 T - 12/15(0.56) 140 27 het unknown deletion chr16 rs71155257 - - 0.2966 intronic CCDC113 Reference - - - - - - - - CCDC113 chr16 58540057 58540062 TGTGTC - 1/5(0.83) 163 6 het unknown deletion chr16 - - - 0.0196 intronic NDRG4 Reference - - - - - - - - NDRG4 chr16 58540059 58540062 TGTC - 1/5(0.83) 163 6 het unknown deletion chr16 rs200871998 - - 0.2451 intronic NDRG4 Reference - - - - - - - - NDRG4 chr16 58550300 58550300 - AC 0/70(1.00) 3070 70 hom unknown insertion chr16 rs77328516 - - 0.5368 intronic SETD6 Reference - - - - - - - - SETD6 chr16 58557209 58557209 - A 3/28(0.90) 601 31 hom unknown insertion chr16 rs71385170 - - 0.3554 intronic CNOT1 Reference - - - - - - - - CNOT1 chr16 58612510 58612510 - A 0/11(1.00) 265 11 hom unknown insertion chr16 rs35176616 - - 0.2868 intronic CNOT1 Reference - - - - - - - - CNOT1 chr16 58622597 58622597 C - 0/26(1.00) 1393 26 hom unknown deletion chr16 rs34716647 0.63 - 0.3529 intronic CNOT1 Reference - - - - - - - - CNOT1 chr16 58703879 58703880 AA - 0/25(1.00) 329 25 hom unknown deletion chr16 rs200232590 - - 0.2279 intronic SLC38A7 Reference - - - - - - - - SLC38A7 chr16 58767917 58767918 GT - 0/29(1.00) 1545 29 hom unknown deletion chr16 rs112591331 0.58 - 0.2745 intronic GOT2 Reference - - - - - - - - GOT2 chr16 64982472 64982476 AAGAG - 12/22(0.65) 1071 34 het unknown deletion chr16 rs150185898 0.40 0.104321 0.3456 intronic CDH11 Reference - - - - - - - - CDH11 chr16 66432304 66432311 ACCACCCC - 0/18(1.00) 951 18 hom unknown deletion chr16 rs113303884 - - 0.3725 intronic CDH5 Reference - - - - - - - - CDH5 chr16 66603669 66603669 - T 5/7(0.58) 173 12 het unknown insertion chr16 rs146083516 0.18 - 0.1495 intronic CKLF-CMTM1;CMTM1 Reference - - - - - - - - CMTM1;CKLF-CMTM1 chr16 66886497 66886500 AAAG - 2/12(0.86) 529 14 het unknown deletion chr16 - - - 0.2623 intronic CA7 Reference - - - - - - - - CA7 chr16 67197776 67197776 - G 1/4(0.80) 68 5 het unknown insertion chr16 rs76287029 - - 0.4608 3-UTR FBXL8 Reference - - - - - - - - FBXL8 chr16 67233360 67233360 C - 3/4(0.57) 100 7 het unknown deletion chr16 - - - 0.0123 intronic ELMO3 Reference - - - - - - - - ELMO3 chr16 67472377 67472380 CACA - 0/20(1.00) 1061 20 hom unknown deletion chr16 rs145078546 - - 0.1348 3-UTR ATP6V0D1 Reference - - - - - - - - ATP6V0D1 chr16 68325665 68325665 - GGGT 7/15(0.68) 700 22 het unknown insertion chr16 - - - 0.0074 intronic SLC7A6 Reference - - - - - - - - SLC7A6 chr16 68380890 68380892 AGG - 2/3(0.60) 111 5 het unknown deletion chr16 rs77277318 - - 0.2990 intronic PRMT7 Reference - - - - - - - - PRMT7 chr16 68857544 68857544 - A 14/8(0.36) 372 22 het unknown insertion chr16 rs35686369 0.09 0.028195 0.1495 intronic CDH1 Reference - - - - - - - - CDH1 chr16 68952939 68952939 - T 12/13(0.52) 171 25 het unknown insertion chr16 rs111446253 - - 0.1275 intronic TANGO6 Reference - - - - - - - - TANGO6 chr16 69942609 69942609 G - 29/61(0.68) 2300 90 het unknown deletion chr16 rs5817677 0.96 - 0.4534 intronic WWP2 Reference - - - - - - - - WWP2 chr16 69973623 69973623 C - 23/26(0.53) 1248 49 het unknown deletion chr16 rs10712484 0.97 - 0.4240 intronic WWP2 Reference - - - - - - - - WWP2 chr16 70182495 70182499 CTTCC - 5/8(0.62) 338 13 het unknown deletion chr16 - - - 0.0025 intronic PDPR Reference - - - - - - - - PDPR chr16 70182490 70182499 CTTCCCTTCC - 5/8(0.62) 338 13 het unknown deletion chr16 rs145754705 - - 0.2083 intronic PDPR Reference - - - - - - - - PDPR chr16 70693872 70693872 - T 8/24(0.75) 428 32 het unknown insertion chr16 - - - 0.4216 intronic IL34 Reference - - - - - - - - IL34 chr16 70896016 70896016 A - 41/53(0.56) 2142 94 het frameshift deletion chr16 rs11337008 - - 0.2623 exonic HYDIN Reference - - - - - - - - HYDIN,NM_001270974,exon69,c.11712delT,p.I3904fs chr16 70905913 70905913 A - 90/82(0.48) 2457 172 het unknown deletion chr16 rs140651943 - - 0.1961 intronic HYDIN Reference - - - - - - - - HYDIN chr16 70934818 70934819 TG - 1/3(0.75) 108 4 het unknown deletion chr16 rs67335529 - - 0.1471 intronic HYDIN Reference - - - - - - - - HYDIN chr16 70954704 70954718 GCGCTCCTTCTCCGT - 82/53(0.39) 2496 135 het nonframeshift deletion chr16 rs67115747 - - 0.1814 exonic HYDIN Reference - - - - - - - - HYDIN,NM_001270974,exon46,c.7561_7575del,p.2521_2525del chr16 70955294 70955299 CTAAAA - 3/8(0.73) 368 11 het unknown deletion chr16 rs56027380 - - 0.0931 intronic HYDIN Reference - - - - - - - - HYDIN chr16 70955339 70955346 GTCCTGGC - 3/4(0.57) 160 7 het unknown deletion chr16 rs137947753 - - 0.0686 intronic HYDIN Reference - - - - - - - - HYDIN chr16 70996116 70996116 A - 25/17(0.40) 274 42 het unknown deletion chr16 rs11342858 - - 0.4559 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71054333 71054333 - TGTG 5/6(0.55) 309 11 het unknown insertion chr16 - - - 0.0662 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71095799 71095799 - AGAGAG 5/5(0.50) 212 10 het unknown insertion chr16 - - - - intronic HYDIN Reference - - - - - - - - HYDIN chr16 71101433 71101433 - A 4/3(0.43) 128 7 het unknown insertion chr16 rs141801559 0.01 - 0.1225 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71103547 71103552 TTATTT - 10/7(0.41) 296 17 het unknown deletion chr16 rs138383022 - - 0.0833 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71127653 71127657 ATAAG - 20/27(0.57) 1292 47 het unknown deletion chr16 rs141111888 - - 0.1593 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71127683 71127683 A - 45/44(0.49) 2122 89 het unknown deletion chr16 rs11362196 - - 0.0319 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71209399 71209401 ACC - 4/3(0.43) 105 7 het unknown deletion chr16 rs145925047 - - 0.0686 intronic HYDIN Reference - - - - - - - - HYDIN chr16 71418587 71418590 CATG - 3/3(0.50) 108 6 het unknown deletion chr16 rs144263868 - - 0.1054 intronic CALB2 Reference - - - - - - - - CALB2 chr16 71773284 71773284 - A 0/27(1.00) 1657 27 hom unknown insertion chr16 rs71389699 0.74 0.317332 0.3897 intronic AP1G1 Reference - - - - - - - - AP1G1 chr16 71955426 71955426 - AT 0/22(1.00) 1342 22 hom unknown insertion chr16 rs146119630 0.98 - 0.3971 intronic IST1 Reference - - - - - - - - IST1 chr16 71956512 71956517 ATGCCC - 4/200(0.98) 3070 204 hom nonframeshift deletion chr16 rs148848854 - 0.307348 0.3186 exonic IST1 Reference - - - - - - - - IST1,NM_001270978,exon4,c.244_249del,p.82_83del;IST1,NM_014761,exon7,c.688_693del,p.230_231del;IST1,NM_001270979,exon3,c.244_249del,p.82_83del;IST1,NM_001270977,exon7,c.688_693del,p.230_231del;IST1,NM_001270976,exon8,c.727_732del,p.243_244del;IST1,NM_001270975,exon7,c.688_693del,p.230_231del chr16 71956589 71956592 TATA - 0/140(1.00) 3070 140 hom unknown deletion chr16 rs77712195 - 0.411849 0.3971 intronic IST1 Reference - - - - - - - - IST1 chr16 71981414 71981414 - TTTG 0/38(1.00) 2350 38 hom unknown insertion chr16 rs149635567 - 0.682133 0.4240 exonic PKD1L3 Reference - - - - - - - - PKD1L3 chr16 72822563 72822563 - TGCTGCTGC 0/33(1.00) 1973 33 hom nonframeshift insertion chr16 - - - 0.0515 exonic ZFHX3 Reference - - - - - - - - ZFHX3,NM_006885,exon10,c.9611_9612insGCAGCAGCA,p.Q3204delinsQQQQ;ZFHX3,NM_001164766,exon9,c.6869_6870insGCAGCAGCA,p.Q2290delinsQQQQ chr16 72984337 72984337 A - 9/12(0.57) 559 21 het unknown deletion chr16 rs138232886 0.13 - 0.1471 intronic ZFHX3 Reference - - - - - - - - ZFHX3 chr16 75498252 75498252 - T 0/18(1.00) 1091 18 hom unknown insertion chr16 rs150429885 0.53 - 0.2843 intronic TMEM170A Reference - - - - - - - - TMEM170A chr16 75665228 75665228 G - 24/18(0.43) 638 42 het unknown deletion chr16 rs3214635 0.74 - 0.4510 intronic KARS Reference - - - - - - - - KARS chr16 75670530 75670530 T - 10/13(0.57) 151 23 het unknown deletion chr16 rs57060791 - - 0.3554 intronic KARS Reference - - - - - - - - KARS chr16 75730037 75730037 - A 0/21(1.00) 1279 21 hom unknown insertion chr16 rs5817959 - - 0.4534 intergenic TERF2IP;CNTNAP4 Reference - - - - - - - - TERF2IP(dist=38696);CNTNAP4(dist=581139) chr16 76311602 76311602 - T 0/87(1.00) 3070 87 hom unknown insertion chr16 - - - 0.4289 exonic CNTNAP4 Reference - - - - - - - - CNTNAP4 chr16 76555016 76555016 T - 2/62(0.97) 1144 64 hom unknown deletion chr16 rs11353699 - - 0.3971 intronic CNTNAP4 Reference - - - - - - - - CNTNAP4 chr16 77225217 77225217 - G 1/37(0.97) 1414 38 hom unknown insertion chr16 - 0.40 - 0.3480 intronic MON1B Reference - - - - - - - - MON1B chr16 79628537 79628537 T - 4/7(0.64) 32 11 het unknown deletion chr16 rs66467731 - - 0.3088 3-UTR MAF Reference - - - - - - - - MAF chr16 79633806 79633808 GCC - 0/17(1.00) 896 17 hom unknown deletion chr16 rs5818251 - - 0.3407 5-UTR MAF Reference - - - - - - - - MAF chr16 81066159 81066159 - T 8/12(0.60) 91 20 het unknown insertion chr16 - - - 0.0564 intronic CENPN Reference - - - - - - - - CENPN chr16 81161473 81161473 - TACTGCCAAGCCTGGGGAAAGC 72/15(0.17) 613 87 het unknown insertion chr16 rs145602984 - 0.126532 0.2525 exonic PKD1L2 Reference - - - - - - - - PKD1L2 chr16 81161713 81161713 A - 23/4(0.15) 65 27 het unknown deletion chr16 rs113658800 0.38 0.134894 0.2402 intronic PKD1L2 Reference - - - - - - - - PKD1L2 chr16 81242149 81242150 TT - 0/61(1.00) 2682 61 hom frameshift deletion chr16 rs62734462 - - 0.5637 exonic PKD1L2 Reference - - - - - - - - PKD1L2,NM_001076780,exon4,c.706_707del,p.236_236del chr16 81249499 81249500 AG - 1/3(0.75) 114 4 het unknown deletion chr16 rs144702022 0.35 - 0.2402 intronic PKD1L2 Reference - - - - - - - - PKD1L2 chr16 81253526 81253526 - TTATT 5/3(0.38) 125 8 het unknown insertion chr16 rs141224532 - - 0.1863 intronic PKD1L2 Reference - - - - - - - - PKD1L2 chr16 81254023 81254023 - A 3/5(0.62) 251 8 het unknown insertion chr16 rs35807120 0.41 0.335926 0.2941 upstream PKD1L2 Reference - - - - - - - - PKD1L2 chr16 81892042 81892044 GGA - 1/81(0.99) 3070 82 hom unknown deletion chr16 rs5818357 - - 0.3848 intronic PLCG2 Reference - - - - - - - - PLCG2 chr16 81902730 81902730 C - 0/23(1.00) 1227 23 hom unknown deletion chr16 rs77062887 0.50 - 0.3235 intronic PLCG2 Reference - - - - - - - - PLCG2 chr16 81973807 81973807 - TGCA 6/5(0.45) 242 11 het unknown insertion chr16 rs141767011 - - 0.0392 intronic PLCG2 Reference - - - - - - - - PLCG2 chr16 82183137 82183138 CT - 3/3(0.50) 108 6 het unknown deletion chr16 rs140235657 0.32 - 0.1863 intronic MPHOSPH6 Reference - - - - - - - - MPHOSPH6 chr16 83843057 83843057 C - 5/2(0.29) 74 7 het unknown deletion chr16 - - - 0.0098 intronic HSBP1 Reference - - - - - - - - HSBP1 chr16 83984415 83984420 CACATG - 11/3(0.21) 65 14 het unknown deletion chr16 - - - - intergenic MLYCD;OSGIN1 Reference - - - - - - - - OSGIN1(dist=2407);MLYCD(dist=34628) chr16 83984414 83984420 ACACATG ACG het unknown substitution chr16 - - - - intergenic MLYCD;OSGIN1 Reference - - - - - - - - MLYCD(dist=34627);OSGIN1(dist=2407) chr16 83984439 83984462 CACACATGCACATACATACTGGCA - 20/4(0.17) 116 24 het unknown deletion chr16 - - - - intergenic MLYCD;OSGIN1 Reference - - - - - - - - OSGIN1(dist=2365);MLYCD(dist=34652) chr16 84065303 84065304 GA - 1/2(0.67) 61 3 het unknown deletion chr16 rs149923774 0.26 - 0.2157 intronic SLC38A8 Reference - - - - - - - - SLC38A8 chr16 84101240 84101240 - ACATTTT 0/32(1.00) 1972 32 hom unknown insertion chr16 rs3835163 - 0.492801 0.3824 intronic MBTPS1 Reference - - - - - - - - MBTPS1 chr16 84132628 84132628 - AC 0/107(1.00) 3070 107 hom unknown insertion chr16 rs10690442 0.91 0.941773 0.5196 intronic MBTPS1 Reference - - - - - - - - MBTPS1 chr16 84204253 84204253 - AT 1/3(0.75) 137 4 het unknown insertion chr16 rs5818485 - - 0.2108 intronic DNAAF1 Reference - - - - - - - - DNAAF1 chr16 84208447 84208447 T - 61/52(0.46) 2023 113 het unknown deletion chr16 rs111554344 0.55 - 0.3211 intronic DNAAF1 Reference - - - - - - - - DNAAF1 chr16 84213541 84213541 - C 34/33(0.49) 1617 67 het unknown insertion chr16 - 0.41 0.284096 0.3456 intronic TAF1C Reference - - - - - - - - TAF1C chr16 84228613 84228613 T - 0/131(1.00) 3070 131 hom unknown deletion chr16 rs35353940 0.54 0.688019 0.4926 intronic ADAD2 Reference - - - - - - - - ADAD2 chr16 84230083 84230090 ACCCCTTC - 11/11(0.50) 489 22 het unknown deletion chr16 - - - 0.2206 intronic ADAD2 Reference - - - - - - - - ADAD2 chr16 84230092 84230096 CTCAA - 11/10(0.48) 448 21 het unknown deletion chr16 - - - 0.2304 intronic ADAD2 Reference - - - - - - - - ADAD2 chr16 84493953 84493953 - GA 21/11(0.34) 553 32 het unknown insertion chr16 - - - 0.0025 intronic ATP2C2 Reference - - - - - - - - ATP2C2 chr16 84883195 84883195 - TTG 4/5(0.56) 248 9 het unknown insertion chr16 rs140532417 - - 0.4706 intronic CRISPLD2 Reference - - - - - - - - CRISPLD2 chr16 84888520 84888523 AAAG - 58/46(0.44) 2188 104 het unknown deletion chr16 rs143809510 - - 0.3676 intronic CRISPLD2 Reference - - - - - - - - CRISPLD2 chr16 85120364 85120364 - A 15/13(0.46) 694 28 het unknown insertion chr16 - 0.33 0.226307 0.2868 intronic KIAA0513 Reference - - - - - - - - KIAA0513 chr16 85814899 85814899 - AGTC 0/106(1.00) 3070 106 hom unknown insertion chr16 rs3081701 - 0.999840 0.4902 intronic EMC8 Reference - - - - - - - - EMC8 chr16 85838804 85838804 - A 0/31(1.00) 1909 31 hom unknown insertion chr16 - - - 0.3995 intronic COX4I1 Reference - - - - - - - - COX4I1 chr16 85840036 85840036 A - 0/48(1.00) 2608 48 hom unknown deletion chr16 rs5818557 - - 0.3701 intronic COX4I1 Reference - - - - - - - - COX4I1 chr16 87436845 87436846 TG - 5/9(0.64) 389 14 het unknown deletion chr16 rs201400187 0.04 - 0.0245 3-UTR MAP1LC3B Reference - - - - - - - - MAP1LC3B chr16 87637893 87637893 - CTGCTG 18/7(0.28) 324 25 het nonframeshift insertion chr16 - - - 0.0588 exonic JPH3 Reference - - - - - - - - JPH3,NM_001271604,exon2,c.430_431insCTGCTG,p.P144delinsPAA chr16 87935958 87935958 - A 12/41(0.77) 605 53 het unknown insertion chr16 rs11438148 - - 0.1520 intronic CA5A Reference - - - - - - - - CA5A chr16 88599696 88599697 GA - 0/32(1.00) 1724 32 hom frameshift deletion chr16 rs67712719 0.99 0.931367 0.4044 exonic ZFPM1 Reference - - - - - - - - ZFPM1,NM_153813,exon10,c.1330_1331del,p.444_444del chr16 88599701 88599701 T - 0/32(1.00) 1724 32 hom frameshift deletion chr16 rs67322929 0.99 - 0.4020 exonic ZFPM1 Reference - - - - - - - - ZFPM1,NM_153813,exon10,c.1335delT,p.P445fs chr16 88599703 88599705 TGG - 0/32(1.00) 1724 32 hom nonframeshift deletion chr16 rs67873604 - - 0.4020 exonic ZFPM1 Reference - - - - - - - - ZFPM1,NM_153813,exon10,c.1337_1339del,p.446_447del chr16 88653961 88653961 C - 78/61(0.44) 2383 139 het unknown deletion chr16 - - - - intronic ZC3H18 Reference - - - - - - - - ZC3H18 chr16 88690882 88690882 - AGC 0/22(1.00) 1332 22 hom unknown insertion chr16 rs3830228 - - 0.2941 intronic ZC3H18 Reference - - - - - - - - ZC3H18 chr16 88723538 88723538 - G 3/5(0.62) 76 8 het unknown insertion chr16 rs112485764 - - 0.3064 intronic MVD Reference - - - - - - - - MVD chr16 88778428 88778428 C - 0/44(1.00) 2387 44 hom unknown deletion chr16 rs11361741 0.95 - 0.4510 intronic CTU2 Reference - - - - - - - - CTU2 chr16 88779952 88779952 - CT 0/20(1.00) 1216 20 hom unknown insertion chr16 rs74757912 - - 0.5025 intronic CTU2 Reference - - - - - - - - CTU2 chr16 88780635 88780640 GGTGTG - 0/65(1.00) 3070 65 hom frameshift deletion chr16 rs55823314 0.94 - 0.5000 exonic CTU2 Reference - - - - - - - - CTU2,NM_001012762,exon10,c.1097_1097del,p.366_366del;CTU2,NM_001012759,exon10,c.1097_1097del,p.366_366del chr16 88781384 88781384 - TGT 1/30(0.97) 1791 31 hom unknown insertion chr16 rs3217719 - 0.231733 0.4681 intronic CTU2 Reference - - - - - - - - CTU2 chr16 88800546 88800551 GCTTCT - 0/44(1.00) 2387 44 hom unknown deletion chr16 rs66935855 - - 0.3897 ncRNA_intronic LOC100289580 Reference - - - - - - - - LOC100289580 chr16 88931363 88931363 - GGGAG 0/12(1.00) 711 12 hom unknown insertion chr16 rs141563331 - 0.443642 0.3554 intronic PABPN1L Reference - - - - - - - - PABPN1L chr16 89212331 89212333 TTC - 24/47(0.66) 2340 71 het unknown deletion chr16 rs147884845 0.05 - 0.1078 intronic ACSF3 Reference - - - - - - - - ACSF3 chr16 89291210 89291210 - GTGA 0/24(1.00) 1445 24 hom frameshift insertion chr16 rs113560259 - - 0.5025 exonic ZNF778 Reference - - - - - - - - ZNF778,NM_001201407,exon5,c.328_329insGTGA,p.E110fs chr16 89291945 89291945 - T 0/41(1.00) 2357 41 hom unknown insertion chr16 rs11464538 - - 0.3848 intronic ZNF778 Reference - - - - - - - - ZNF778 chr16 89590168 89590168 - ATCTC 0/32(1.00) 1972 32 hom unknown insertion chr16 rs113476208 0.66 - 0.4436 intronic SPG7 Reference - - - - - - - - SPG7 chr16 89612980 89612980 C - 7/8(0.53) 54 15 het unknown deletion chr16 rs35936864 - - 0.2892 intronic SPG7 Reference - - - - - - - - SPG7 chr16 89800163 89800163 - G 2/3(0.60) 66 5 het unknown insertion chr16 rs79577153 - - 0.1667 intronic ZNF276 Reference - - - - - - - - ZNF276 chr16 89804336 89804336 T - 1/168(0.99) 3070 169 hom unknown deletion chr16 rs17233826 0.99 - 0.5907 3-UTR FANCA Reference - - - - - - - - FANCA chr16 89808795 89808810 GAGGCTGCAGTGAGCT - 1/3(0.75) 113 4 het unknown deletion chr16 rs67898229 0.78 - 0.2426 intronic FANCA Reference - - - - - - - - FANCA chr16 89812852 89812853 TG - 7/16(0.70) 774 23 het unknown deletion chr16 rs17233602 0.21 - 0.1789 intronic FANCA Reference - - - - - - - - FANCA chr16 89845178 89845178 - AC 12/11(0.48) 583 23 het unknown insertion chr16 - 0.21 0.059026 0.2010 intronic FANCA Reference - - - - - - - - FANCA chr16 89851117 89851128 GGGGAAGGGGAA - 6/5(0.45) 203 11 het unknown deletion chr16 rs146134541 0.20 - 0.1642 intronic FANCA Reference - - - - - - - - FANCA chr16 89916879 89916879 - GAG 46/47(0.51) 2582 93 het nonframeshift insertion chr16 rs146569219 0.19 - 0.1691 exonic SPIRE2 Reference - - - - - - - - SPIRE2,NM_032451,exon3,c.456_457insGAG,p.P152delinsPE chr16 89970753 89970753 - T 12/9(0.43) 405 21 het unknown insertion chr16 rs150462311 0.23 - 0.2230 intronic TCF25 Reference - - - - - - - - TCF25 chr16 89973778 89973784 TCCCAGT - 3/5(0.62) 185 8 het unknown deletion chr16 rs143440936 - - 0.3186 intronic TCF25 Reference - - - - - - - - TCF25 chr16 89975220 89975220 - CAGCTCC 2/6(0.75) 314 8 het unknown insertion chr16 - - - 0.1446 intronic TCF25 Reference - - - - - - - - TCF25 chr16 89981347 89981347 - TG het unknown insertion chr16 - - - 0.0098 intergenic TCF25;MC1R Reference - - - - - - - - MC1R(dist=2940);TCF25(dist=3555) chr16 89981346 89981347 TG - 3/8(0.73) 382 11 het unknown deletion chr16 - - - 0.0956 intergenic TCF25;MC1R Reference - - - - - - - - TCF25(dist=3554);MC1R(dist=2940) chr16 90141288 90141288 - A 32/22(0.41) 177 54 het unknown insertion chr16 - - - 0.1446 intronic PRDM7 Reference - - - - - - - - PRDM7 chr17 171374 171394 GGCCCAGGTGGCAACAGAGAC - 2/4(0.67) 146 6 het unknown deletion chr17 - - - 0.0784 intronic RPH3AL Reference - - - - - - - - RPH3AL chr17 565265 565265 T - 4/3(0.43) 60 7 het unknown deletion chr17 rs140113256 0.30 - 0.2255 intronic VPS53 Reference - - - - - - - - VPS53 chr17 636266 636266 - GGGCC 9/4(0.31) 172 13 het unknown insertion chr17 rs141977343 0.45 - 0.2721 intronic FAM57A Reference - - - - - - - - FAM57A chr17 686297 686297 T - 6/7(0.54) 40 13 het unknown deletion chr17 rs34512506 - - 0.3995 intronic RNMTL1 Reference - - - - - - - - RNMTL1 chr17 908896 908897 AG - 2/3(0.60) 111 5 het unknown deletion chr17 rs35236437 0.24 - 0.2083 3-UTR ABR Reference - - - - - - - - ABR chr17 1303901 1303907 TTTTCTT - 2/3(0.60) 110 5 het unknown deletion chr17 - - - 0.0319 upstream YWHAE Reference - - - - - - - - YWHAE chr17 1326754 1326754 - A 21/18(0.46) 106 39 het unknown insertion chr17 - - - 0.0882 3-UTR CRK Reference - - - - - - - - CRK chr17 1375363 1375363 C - 40/50(0.56) 2017 90 het unknown deletion chr17 rs34837599 0.10 0.164243 0.1299 intronic MYO1C Reference - - - - - - - - MYO1C chr17 1530979 1530979 - C 2/4(0.67) 100 6 het unknown insertion chr17 rs145276362 0.24 0.427099 0.1250 intronic SLC43A2 Reference - - - - - - - - SLC43A2 chr17 1633297 1633297 - AAGAAGAAG 1/4(0.80) 197 5 het unknown insertion chr17 - - - 0.1838 intronic WDR81 Reference - - - - - - - - WDR81 chr17 1953533 1953533 - GCG 0/19(1.00) 1154 19 hom unknown insertion chr17 - - - 0.0784 upstream;downstream MIR132;MIR212 Reference - - - - - - - - MIR212;MIR132 chr17 2195934 2195934 A - 0/95(1.00) 3070 95 hom unknown deletion chr17 rs3215741 0.78 - 0.4118 intronic SMG6 Reference - - - - - - - - SMG6 chr17 2234829 2234829 - TT 1/4(0.80) 197 5 het unknown insertion chr17 - - - 0.2426 intronic TSR1 Reference - - - - - - - - TSR1 chr17 2276402 2276404 TGA - 0/79(1.00) 3070 79 hom unknown deletion chr17 rs66956940 0.47 0.295222 0.4387 intronic SGSM2 Reference - - - - - - - - SGSM2 chr17 2323953 2323953 - A 6/11(0.65) 157 17 het unknown insertion chr17 - 0.31 - 0.2745 intronic METTL16 Reference - - - - - - - - METTL16 chr17 2597724 2597734 CAGCGGGGACA - 0/52(1.00) 2828 52 hom unknown deletion chr17 rs66960934 0.98 0.859821 0.4289 intronic CLUH Reference - - - - - - - - CLUH chr17 2703722 2703743 GGCTGTCCCGGGGACTCCTCCA - 22/24(0.52) 1145 46 het unknown deletion chr17 rs72122107 - - 0.1029 intronic RAP1GAP2 Reference - - - - - - - - RAP1GAP2 chr17 2934618 2934618 - T 7/4(0.36) 179 11 het unknown insertion chr17 rs60573103 - - 0.2353 intronic RAP1GAP2 Reference - - - - - - - - RAP1GAP2 chr17 3352455 3352455 - AA 11/9(0.45) 152 20 het unknown insertion chr17 rs148274923 - 0.157099 0.2623 intronic SPATA22 Reference - - - - - - - - SPATA22 chr17 3438473 3438473 - CTCCCTTCCTCCCT 1/4(0.80) 198 5 het unknown insertion chr17 rs141719765 0.60 - 0.2181 intronic TRPV3 Reference - - - - - - - - TRPV3 chr17 3457954 3457954 - G 0/14(1.00) 456 14 hom unknown insertion chr17 rs76003551 - - 0.4485 intronic TRPV3 Reference - - - - - - - - TRPV3 chr17 3492108 3492108 A - 33/42(0.56) 41 75 het unknown deletion chr17 rs200912491 - - 0.2255 intronic TRPV1 Reference - - - - - - - - TRPV1 chr17 3492120 3492120 - C 51/51(0.50) 2424 102 het unknown insertion chr17 rs201774093 - - 0.3456 intronic TRPV1 Reference - - - - - - - - TRPV1 chr17 3494199 3494199 - C 5/3(0.38) 57 8 het unknown insertion chr17 rs3216758 0.47 - 0.3725 intronic TRPV1 Reference - - - - - - - - TRPV1 chr17 3594277 3594277 G - 0/38(1.00) 1485 38 hom frameshift deletion chr17 rs3215407 0.82 0.543850 0.5833 exonic P2RX5 Reference - - - - - - - - P2RX5,NM_002561,exon3,c.333delC,p.P111fs;P2RX5,NM_001204519,exon3,c.333delC,p.P111fs chr17 3664477 3664477 - ATT 20/14(0.41) 739 34 het unknown insertion chr17 rs10687117 0.15 0.357188 0.2083 intronic ITGAE Reference - - - - - - - - ITGAE chr17 4098573 4098573 - T 2/44(0.96) 1143 46 hom unknown insertion chr17 rs5818941 - - 0.4093 intronic ANKFY1 Reference - - - - - - - - ANKFY1 chr17 4350374 4350375 GT - 20/21(0.51) 996 41 het unknown deletion chr17 rs143222902 0.18 - 0.2206 intronic SPNS3 Reference - - - - - - - - SPNS3 chr17 4382431 4382431 - TC 1/2(0.67) 77 3 het unknown insertion chr17 rs200192184 0.62 - 0.2230 intronic SPNS3 Reference - - - - - - - - SPNS3 chr17 4439727 4439727 - G 13/10(0.43) 244 23 het unknown insertion chr17 - - - 0.1520 intronic SPNS2 Reference - - - - - - - - SPNS2 chr17 4510600 4510600 - T 25/21(0.46) 1144 46 het unknown insertion chr17 rs35090819 - - 0.3922 intronic SMTNL2 Reference - - - - - - - - SMTNL2 chr17 4544978 4544978 - AGA 0/12(1.00) 713 12 hom unknown insertion chr17 - - - 0.5417 upstream ALOX15 Reference - - - - - - - - ALOX15 chr17 4586254 4586254 A - 0/41(1.00) 1299 41 hom unknown deletion chr17 rs34352526 - 0.954640 0.4951 intronic PELP1 Reference - - - - - - - - PELP1 chr17 4714021 4714021 - GAAA 0/70(1.00) 3070 70 hom unknown insertion chr17 rs3081314 - - 0.5000 intronic PLD2 Reference - - - - - - - - PLD2 chr17 4795620 4795620 G - 3/4(0.57) 100 7 het unknown deletion chr17 rs36079581 0.38 - 0.2623 intronic MINK1 Reference - - - - - - - - MINK1 chr17 4802256 4802275 GCCTCTGCCTCGCTCCACCC - 38/63(0.62) 3048 101 het unknown deletion chr17 rs147753790 0.51 0.055991 0.3824 intronic CHRNE Reference - - - - - - - - CHRNE chr17 4859103 4859113 TGTCTCTGCCC - 11/10(0.48) 395 21 het unknown deletion chr17 rs71367864 - - 0.1985 intronic ENO3 Reference - - - - - - - - ENO3 chr17 5284544 5284545 AA - 0/42(1.00) 1833 42 hom unknown deletion chr17 rs56804522 0.82 - 0.3873 intronic RABEP1 Reference - - - - - - - - RABEP1 chr17 5289866 5289867 AT - 0/15(1.00) 785 15 hom unknown deletion chr17 rs112051402 0.82 - 0.3382 intronic NUP88 Reference - - - - - - - - NUP88 chr17 5291277 5291280 AAAT - 0/11(1.00) 565 11 hom unknown deletion chr17 rs142820374 0.82 0.392851 0.3505 intronic NUP88 Reference - - - - - - - - NUP88 chr17 5334874 5334874 A - 61/61(0.50) 2315 122 het unknown deletion chr17 rs34134819 0.79 - 0.4534 intronic RPAIN Reference - - - - - - - - RPAIN chr17 5338302 5338315 AAAACAGACAAGGC - 56/32(0.36) 1457 88 het unknown deletion chr17 rs137972227 0.75 0.173510 0.3725 intronic C1QBP Reference - - - - - - - - C1QBP chr17 5388568 5388568 - CAAC 13/8(0.38) 400 21 het unknown insertion chr17 rs16710 0.37 0.447970 0.2843 intronic DERL2 Reference - - - - - - - - DERL2 chr17 6555546 6555546 - G 0/74(1.00) 3070 74 hom frameshift insertion chr17 - - - 0.5368 exonic C17orf100 Reference - - - - - - - - C17orf100,NM_001105520,exon1,c.314dupG,p.R105fs chr17 6596500 6596507 ACACACAC - 8/6(0.43) 164 14 het unknown deletion chr17 rs71696856 - 0.057191 - intronic SLC13A5 Reference - - - - - - - - SLC13A5 chr17 6596498 6596507 ACACACACAC - 8/6(0.43) 164 14 het unknown deletion chr17 rs72457886 - 0.096429 0.0074 intronic SLC13A5 Reference - - - - - - - - SLC13A5 chr17 6663145 6663145 T - 0/40(1.00) 1669 40 hom unknown deletion chr17 rs71157213 0.31 - 0.2647 intronic XAF1 Reference - - - - - - - - XAF1 chr17 6690566 6690566 - GCGC 26/9(0.26) 410 35 het unknown insertion chr17 rs201703257 0.56 - 0.2255 intronic FBXO39 Reference - - - - - - - - FBXO39 chr17 6690854 6690854 T - 9/6(0.40) 246 15 het unknown deletion chr17 rs67163717 0.62 - 0.3235 3-UTR FBXO39 Reference - - - - - - - - FBXO39 chr17 6690865 6690865 - TC 7/4(0.36) 178 11 het unknown insertion chr17 - - - 0.3113 3-UTR FBXO39 Reference - - - - - - - - FBXO39 chr17 6928019 6928019 - CAG 28/25(0.47) 1375 53 het nonframeshift insertion chr17 rs146207245 - - 0.4706 exonic BCL6B Reference - - - - - - - - BCL6B,NM_181844,exon4,c.701_702insCAG,p.S234delinsSS chr17 7080111 7080111 - CA 3/22(0.88) 1268 25 het unknown insertion chr17 rs145025195 - - 0.1324 intronic ASGR1 Reference - - - - - - - - ASGR1 chr17 7096708 7096708 C - 4/8(0.67) 246 12 het unknown deletion chr17 rs3215125 0.40 - 0.3260 intronic DLG4 Reference - - - - - - - - DLG4 chr17 7123240 7123240 - GGGCGTGCAGGACGC 37/29(0.44) 1496 66 het unknown insertion chr17 rs139223575 0.44 0.452972 0.3873 5-UTR ACADVL;DLG4 Reference - - - - - - - - DLG4;ACADVL chr17 7124751 7124751 T - 6/6(0.50) 252 12 het unknown deletion chr17 - - - 0.1912 intronic ACADVL Reference - - - - - - - - ACADVL chr17 7124753 7124768 AGGAACTGCCCTAGGT - 6/6(0.50) 253 12 het unknown deletion chr17 - - - 0.1373 intronic ACADVL Reference - - - - - - - - ACADVL chr17 7145492 7145492 - A 28/21(0.43) 1135 49 het unknown insertion chr17 rs58574748 0.76 - 0.3995 intronic GABARAP Reference - - - - - - - - GABARAP chr17 7147350 7147350 - C 1/3(0.75) 127 4 het unknown insertion chr17 - 0.34 - 0.1985 3-UTR CTDNEP1 Reference - - - - - - - - CTDNEP1 chr17 7165396 7165396 G - 6/7(0.54) 221 13 het unknown deletion chr17 rs56219105 0.37 0.642018 0.3554 5-UTR CLDN7 Reference - - - - - - - - CLDN7 chr17 7166932 7166932 - G 3/3(0.50) 131 6 het unknown insertion chr17 rs34958987 0.66 - 0.2647 upstream CLDN7 Reference - - - - - - - - CLDN7 chr17 7193056 7193056 A - 12/17(0.59) 664 29 het unknown deletion chr17 rs3833134 0.36 0.607383 0.3235 intronic YBX2 Reference - - - - - - - - YBX2 chr17 7217498 7217498 G - 55/31(0.36) 1145 86 het unknown deletion chr17 rs3215130 0.19 0.073003 0.2108 intronic GPS2 Reference - - - - - - - - GPS2 chr17 7259083 7259083 - G 8/4(0.33) 129 12 het unknown insertion chr17 - 0.34 - 0.2819 intronic TMEM95 Reference - - - - - - - - TMEM95 chr17 7290788 7290788 G - 0/50(1.00) 2285 50 hom unknown deletion chr17 rs5819155 0.42 0.333785 0.3578 intronic TNK1 Reference - - - - - - - - TNK1 chr17 7317647 7317647 - C 0/22(1.00) 1086 22 hom unknown insertion chr17 - - 0.999840 0.4485 intronic NLGN2 Reference - - - - - - - - NLGN2 chr17 7401335 7401335 - GCTCTGGGGT 0/23(1.00) 1395 23 hom unknown insertion chr17 - - - 0.3750 intronic POLR2A Reference - - - - - - - - POLR2A chr17 7412965 7412965 - AGA 35/38(0.52) 2133 73 het unknown insertion chr17 rs71541942 0.31 0.139377 0.3064 intronic POLR2A Reference - - - - - - - - POLR2A chr17 7470286 7470286 A - 0/56(1.00) 2459 56 hom unknown deletion chr17 rs58837213 - - 0.4412 ncRNA_exonic SENP3-EIF4A1 Reference - - - - - - - - SENP3-EIF4A1 chr17 7579644 7579659 CCCCAGCCCTCCAGGT - 0/14(1.00) 708 14 hom unknown deletion chr17 rs146534833 0.94 0.748677 0.4142 intronic TP53 Reference - - - - - - - - TP53 chr17 7721200 7721200 C - 42/41(0.49) 914 83 het unknown deletion chr17 rs148024366 - 0.131390 0.3873 intronic DNAH2 Reference - - - - - - - - DNAH2 chr17 7726665 7726665 - AG 1/8(0.89) 169 9 het unknown insertion chr17 - - - 0.2108 intronic DNAH2 Reference - - - - - - - - DNAH2 chr17 7726665 7726665 - AGAG 1/8(0.89) 169 9 het unknown insertion chr17 - - - 0.0956 intronic DNAH2 Reference - - - - - - - - DNAH2 chr17 7752532 7752543 CAGAAGGAGCAT - 36/17(0.32) 745 53 het nonframeshift deletion chr17 - - - 0.0319 exonic KDM6B Reference - - - - - - - - KDM6B,NM_001080424,exon11,c.2926_2937del,p.976_979del chr17 7754296 7754301 CCTCTG - 21/13(0.38) 577 34 het unknown deletion chr17 rs146364592 0.36 0.044852 0.3431 intronic KDM6B Reference - - - - - - - - KDM6B chr17 7780780 7780780 - TTTTC 7/4(0.36) 178 11 het unknown insertion chr17 - 0.80 - 0.2623 intergenic CYB5D1;CHD3 Reference - - - - - - - - CHD3(dist=7343);CYB5D1(dist=15180) chr17 7980190 7980200 CCCCAGATGCC - 1/3(0.75) 113 4 het unknown deletion chr17 rs143542368 0.22 - 0.1593 intronic ALOX12B Reference - - - - - - - - ALOX12B chr17 7990554 7990555 AG - 12/9(0.43) 337 21 het unknown deletion chr17 rs72356118 - - 0.1471 intronic ALOX12B Reference - - - - - - - - ALOX12B chr17 7990578 7990581 ACAC - 23/7(0.23) 262 30 het unknown deletion chr17 - - - 0.0074 intronic ALOX12B Reference - - - - - - - - ALOX12B chr17 8052531 8052531 - A 26/20(0.43) 318 46 het unknown insertion chr17 - - - - intronic PER1 Reference - - - - - - - - PER1 chr17 8383344 8383344 - C 0/36(1.00) 1237 36 hom unknown insertion chr17 rs3215073 0.42 - 0.3725 intronic MYH10 Reference - - - - - - - - MYH10 chr17 8387438 8387438 - ATGA 0/22(1.00) 1342 22 hom unknown insertion chr17 rs113838551 - 0.961821 0.3922 intronic MYH10 Reference - - - - - - - - MYH10 chr17 8417007 8417007 T - 7/80(0.92) 995 87 hom unknown deletion chr17 rs112071122 - - 0.4020 intronic MYH10 Reference - - - - - - - - MYH10 chr17 8725214 8725214 - G 0/137(1.00) 3070 137 hom unknown insertion chr17 rs113072503 - - 0.4559 exonic PIK3R6 Reference - - - - - - - - PIK3R6 chr17 8731710 8731710 G - 11/7(0.39) 219 18 het unknown deletion chr17 rs143782173 - - 0.2108 intronic PIK3R6 Reference - - - - - - - - PIK3R6 chr17 8732832 8732832 - AT 2/6(0.75) 314 8 het unknown insertion chr17 - - - 0.1936 intronic PIK3R6 Reference - - - - - - - - PIK3R6 chr17 9124464 9124464 - C 2/5(0.71) 97 7 het unknown insertion chr17 - - - 0.0858 intronic NTN1 Reference - - - - - - - - NTN1 chr17 9590244 9590245 GT - 22/5(0.19) 156 27 het unknown deletion chr17 rs148093920 - - 0.0074 intronic USP43 Reference - - - - - - - - USP43 chr17 9729645 9729646 AT - 2/4(0.67) 163 6 het unknown deletion chr17 rs67232633 0.06 - 0.0686 intronic GLP2R Reference - - - - - - - - GLP2R chr17 10249888 10249888 - A 0/28(1.00) 1539 28 hom unknown insertion chr17 rs112787404 0.87 - 0.4387 intronic MYH13 Reference - - - - - - - - MYH13 chr17 10258154 10258154 T - 35/32(0.48) 489 67 het unknown deletion chr17 rs3214260 - - 0.4485 intronic MYH13 Reference - - - - - - - - MYH13 chr17 10348705 10348705 - GAAGC 0/34(1.00) 2043 34 hom unknown insertion chr17 rs150780105 - - 0.4657 intronic MYH4 Reference - - - - - - - - MYH4 chr17 10411335 10411335 - T 4/21(0.84) 274 25 het unknown insertion chr17 - - 0.369871 0.3725 intronic MYH1 Reference - - - - - - - - MYH1 chr17 10411335 10411335 - TT 4/21(0.84) 274 25 het unknown insertion chr17 - - 0.011712 - intronic MYH1 Reference - - - - - - - - MYH1 chr17 10435325 10435325 - A 0/24(1.00) 919 24 hom unknown insertion chr17 rs11379780 - - 0.4265 intronic MYH2 Reference - - - - - - - - MYH2 chr17 10533595 10533595 - T 0/78(1.00) 3070 78 hom unknown insertion chr17 rs3216886 0.52 0.585783 0.4338 intronic MYH3 Reference - - - - - - - - MYH3 chr17 10544697 10544697 A - 0/22(1.00) 459 22 hom unknown deletion chr17 rs3216884 - - 0.2990 intronic MYH3 Reference - - - - - - - - MYH3 chr17 10552000 10552000 - T 0/12(1.00) 293 12 hom unknown insertion chr17 rs3214114 0.36 0.576278 0.2868 intronic MYH3 Reference - - - - - - - - MYH3 chr17 10555050 10555052 TTA - 11/7(0.39) 199 18 het unknown deletion chr17 rs138453847 0.36 - 0.0441 intronic MYH3 Reference - - - - - - - - MYH3 chr17 10555063 10555064 TG - 4/10(0.71) 464 14 het unknown deletion chr17 rs150760312 - - 0.0931 intronic MYH3 Reference - - - - - - - - MYH3 chr17 11778577 11778577 - C 0/39(1.00) 2161 39 hom unknown insertion chr17 rs11396360 0.66 - 0.3799 intronic DNAH9 Reference - - - - - - - - DNAH9 chr17 11833473 11833473 - G 55/36(0.40) 1133 91 het unknown insertion chr17 - 0.06 - 0.0931 intronic DNAH9 Reference - - - - - - - - DNAH9 chr17 12859125 12859125 - G 20/18(0.47) 664 38 het unknown insertion chr17 rs3214256 0.48 - 0.3578 intronic ARHGAP44 Reference - - - - - - - - ARHGAP44 chr17 13977813 13977813 - TTTA 0/36(1.00) 2224 36 hom unknown insertion chr17 rs201093598 0.98 0.988729 0.4363 intronic COX10 Reference - - - - - - - - COX10 chr17 14673567 14673567 - A 91/89(0.49) 2974 180 het unknown insertion chr17 rs5819492 0.21 0.127236 0.1740 intergenic HS3ST3B1;CDRT7 Reference - - - - - - - - CDRT7(dist=260725);HS3ST3B1(dist=424075) chr17 15343524 15343524 - CTT 0/58(1.00) 3070 58 hom splicing insertion chr17 rs79770715 - 0.969409 0.4877 splicing CDRT4;TVP23C-CDRT4 Reference - - - - - - - - TVP23C-CDRT4(NM_001204478,exon7,c.537+1->AAG);CDRT4(NM_001204477,exon4,c.28+1->AAG) chr17 15500032 15500032 A - 0/35(1.00) 1521 35 hom unknown deletion chr17 rs3217025 0.21 - 0.2402 intronic CDRT1 Reference - - - - - - - - CDRT1 chr17 15643382 15643382 A - 5/72(0.94) 1210 77 het unknown deletion chr17 rs58354673 - - 0.3603 intronic TBC1D26 Reference - - - - - - - - TBC1D26 chr17 15643382 15643382 - C 5/72(0.94) 1210 77 het unknown insertion chr17 - 0.38 - 0.3064 intronic TBC1D26 Reference - - - - - - - - TBC1D26 chr17 16537373 16537373 A - 0/30(1.00) 1614 30 hom unknown deletion chr17 rs60858649 0.36 - 0.2647 intronic ZNF624 Reference - - - - - - - - ZNF624 chr17 17039565 17039567 CAG - 0/12(1.00) 490 12 het nonframeshift deletion chr17 - - - - exonic MPRIP Reference - - - - - - - - MPRIP,NM_201274,exon6,c.537_539del,p.179_180del;MPRIP,NM_015134,exon6,c.537_539del,p.179_180del chr17 17039562 17039567 CAGCAG - 0/12(1.00) 490 12 het nonframeshift deletion chr17 - - - 0.0319 exonic MPRIP Reference - - - - - - - - MPRIP,NM_201274,exon6,c.534_539del,p.178_180del;MPRIP,NM_015134,exon6,c.534_539del,p.178_180del chr17 17064775 17064775 - C 0/28(1.00) 1720 28 hom unknown insertion chr17 rs5819603 0.99 - 0.5049 intronic MPRIP Reference - - - - - - - - MPRIP chr17 17075181 17075181 T - 32/24(0.43) 909 56 het splicing deletion chr17 rs3215213 0.30 0.147764 0.3407 splicing MPRIP Reference - - - - - - - - MPRIP(NM_201274,exon16,c.2311+2T>-;NM_015134,exon16,c.2311+2T>-) chr17 17088887 17088887 - TCCT 37/18(0.33) 906 55 het unknown insertion chr17 rs111954936 - - 0.2574 3-UTR MPRIP Reference - - - - - - - - MPRIP chr17 17152364 17152364 A - 10/12(0.55) 74 22 het unknown deletion chr17 rs11336908 - - 0.2255 intronic COPS3 Reference - - - - - - - - COPS3 chr17 17165013 17165013 A - 10/15(0.60) 110 25 het unknown deletion chr17 rs139813720 - - 0.2132 intronic COPS3 Reference - - - - - - - - COPS3 chr17 17168053 17168053 - T 17/16(0.48) 868 33 het unknown insertion chr17 - 0.21 - 0.2451 intronic COPS3 Reference - - - - - - - - COPS3 chr17 17183867 17183867 G - 14/3(0.18) 75 17 het unknown deletion chr17 - - - 0.1176 intronic COPS3 Reference - - - - - - - - COPS3 chr17 17697099 17697100 GC - 0/86(1.00) 3070 86 hom frameshift deletion chr17 rs35068024 0.14 - 0.4583 exonic RAI1 Reference - - - - - - - - RAI1,NM_030665,exon3,c.837_838del,p.279_280del chr17 17697102 17697102 G - 0/81(1.00) 3070 81 hom frameshift deletion chr17 rs34083643 - - 0.4265 exonic RAI1 Reference - - - - - - - - RAI1,NM_030665,exon3,c.840delG,p.Q280fs chr17 18047671 18047671 - C 0/18(1.00) 1033 18 hom unknown insertion chr17 rs76193626 - - 0.4020 intronic MYO15A Reference - - - - - - - - MYO15A chr17 18047772 18047772 - C 0/43(1.00) 2528 43 hom unknown insertion chr17 rs112595736 0.61 0.767135 0.4338 intronic MYO15A Reference - - - - - - - - MYO15A chr17 18259334 18259335 AT - 4/6(0.60) 261 10 het unknown deletion chr17 rs142013082 0.19 0.100639 0.1348 intronic SHMT1 Reference - - - - - - - - SHMT1 chr17 18286916 18286916 - G 0/17(1.00) 1028 17 hom unknown insertion chr17 - - - 0.3505 intronic EVPLL Reference - - - - - - - - EVPLL chr17 18286922 18286922 - G 0/14(1.00) 748 14 hom unknown insertion chr17 - - - 0.3529 intronic EVPLL Reference - - - - - - - - EVPLL chr17 18286930 18286930 - G 0/14(1.00) 748 14 hom unknown insertion chr17 rs200680358 - 0.999493 0.3578 intronic EVPLL Reference - - - - - - - - EVPLL chr17 18286938 18286938 - G 0/21(1.00) 1144 21 hom unknown insertion chr17 rs145486982 0.99 0.999378 0.3824 intronic EVPLL Reference - - - - - - - - EVPLL chr17 18291433 18291438 CACAGC - 4/6(0.60) 261 10 het unknown deletion chr17 rs140944304 0.22 - 0.1936 intronic EVPLL Reference - - - - - - - - EVPLL chr17 18498497 18498497 - A 9/31(0.78) 532 40 het unknown insertion chr17 - - - 0.3284 ncRNA_intronic CCDC144B Reference - - - - - - - - CCDC144B chr17 18541853 18541854 CC - 2/13(0.87) 475 15 het unknown deletion chr17 - - - 0.3676 intronic TBC1D28 Reference - - - - - - - - TBC1D28 chr17 18541856 18541856 - TGGT 4/13(0.76) 665 17 het unknown insertion chr17 - - - 0.3676 intronic TBC1D28 Reference - - - - - - - - TBC1D28 chr17 18541857 18541857 - TGAGAGGCAGATGGTG 13/4(0.24) 164 17 het unknown insertion chr17 - - - - intronic TBC1D28 Reference - - - - - - - - TBC1D28 chr17 18708830 18708830 - T 5/62(0.93) 38 67 het unknown insertion chr17 - - - 0.3456 intronic TVP23B Reference - - - - - - - - TVP23B chr17 18708830 18708830 - TT 5/62(0.93) 38 67 het unknown insertion chr17 - - - 0.0049 intronic TVP23B Reference - - - - - - - - TVP23B chr17 18814661 18814661 - TA 11/11(0.50) 586 22 het unknown insertion chr17 rs55971101 - - 0.3407 intronic PRPSAP2 Reference - - - - - - - - PRPSAP2 chr17 18827349 18827352 TTGA - 15/7(0.32) 281 22 het unknown deletion chr17 rs145452716 0.07 - 0.0539 intronic PRPSAP2 Reference - - - - - - - - PRPSAP2 chr17 18874685 18874685 - GGT 1/46(0.98) 2799 47 hom nonframeshift insertion chr17 rs3071666 - 0.595543 0.5172 exonic FAM83G Reference - - - - - - - - FAM83G,NM_001039999,exon6,c.2458_2459insACC,p.R820delinsHR chr17 19316487 19316487 G - 13/29(0.69) 1075 42 het unknown deletion chr17 rs3214182 0.13 - 0.1176 intronic RNF112 Reference - - - - - - - - RNF112 chr17 19561012 19561019 ACTGAATT - 0/61(1.00) 3070 61 hom unknown deletion chr17 rs3841513 0.90 0.468116 0.4657 intronic ALDH3A2 Reference - - - - - - - - ALDH3A2 chr17 19568487 19568487 T - 0/16(1.00) 642 16 hom unknown deletion chr17 rs59755039 0.98 - 0.3775 intronic ALDH3A2 Reference - - - - - - - - ALDH3A2 chr17 20140311 20140311 - T 0/14(1.00) 794 14 hom unknown insertion chr17 rs3214214 0.78 - 0.3456 3-UTR SPECC1 Reference - - - - - - - - SPECC1 chr17 20768756 20768756 T - 80/21(0.21) 635 101 het frameshift deletion chr17 rs139187048 - - 0.0858 exonic CCDC144NL Reference - - - - - - - - CCDC144NL,NM_001004306,exon4,c.638delA,p.K213fs chr17 20768929 20768930 AT - 19/3(0.14) 60 22 het unknown deletion chr17 rs141057464 - - 0.2377 intronic CCDC144NL Reference - - - - - - - - CCDC144NL chr17 20768966 20768966 - C 8/4(0.33) 176 12 het unknown insertion chr17 - - - 0.0368 intronic CCDC144NL Reference - - - - - - - - CCDC144NL chr17 20768969 20768969 - A 4/3(0.43) 128 7 het unknown insertion chr17 - - - 0.0049 intronic CCDC144NL Reference - - - - - - - - CCDC144NL chr17 20768981 20768981 - T 4/3(0.43) 61 7 het unknown insertion chr17 - - - 0.0123 intronic CCDC144NL Reference - - - - - - - - CCDC144NL chr17 21202383 21202383 G - 15/14(0.48) 525 29 het unknown deletion chr17 rs35763451 - - 0.3775 intronic MAP2K3 Reference - - - - - - - - MAP2K3 chr17 21203675 21203675 G - 9/3(0.25) 90 12 het unknown deletion chr17 rs67627398 - - 0.3260 intronic MAP2K3 Reference - - - - - - - - MAP2K3 chr17 21205593 21205594 GC - 43/11(0.20) 404 54 het unknown deletion chr17 rs66644302 - 0.498403 0.3407 intronic MAP2K3 Reference - - - - - - - - MAP2K3 chr17 21215434 21215434 - C 19/21(0.53) 795 40 het unknown insertion chr17 rs113634008 - 0.491534 0.4583 intronic MAP2K3 Reference - - - - - - - - MAP2K3 chr17 21216528 21216528 G - 1/3(0.75) 114 4 het unknown deletion chr17 rs5819746 - - 0.2647 intronic MAP2K3 Reference - - - - - - - - MAP2K3 chr17 21216758 21216758 - CTTC 78/40(0.34) 2096 118 het unknown insertion chr17 rs5819747 - 0.477236 0.4216 intronic MAP2K3 Reference - - - - - - - - MAP2K3 chr17 21319651 21319653 GAG - 116/26(0.18) 957 142 het nonframeshift deletion chr17 rs112163749 - - 0.2794 exonic KCNJ12;KCNJ18 Reference - - - - - - - - KCNJ12,NM_021012,exon3,c.997_999del,p.333_333del;KCNJ18,NM_001194958,exon3,c.997_999del,p.333_333del chr17 21535980 21535981 CA - 34/4(0.11) 68 38 het unknown deletion chr17 rs113145914 - - 0.2500 intergenic C17orf51;FAM27L Reference - - - - - - - - FAM27L(dist=289389);C17orf51(dist=81039) chr17 25639105 25639105 T - 2/5(0.71) 172 7 het unknown deletion chr17 rs11305587 0.25 - 0.2157 intronic WSB1 Reference - - - - - - - - WSB1 chr17 25974600 25974600 - ATTATT 4/2(0.33) 37 6 het unknown insertion chr17 rs113216780 - - 0.2132 intronic LGALS9 Reference - - - - - - - - LGALS9 chr17 26101214 26101214 - CA 10/4(0.29) 169 14 het unknown insertion chr17 rs66764731 - - 0.2672 intronic NOS2 Reference - - - - - - - - NOS2 chr17 26633347 26633347 - G 5/6(0.55) 251 11 het unknown insertion chr17 rs35679432 - - 0.0637 ncRNA_intronic KRT18P55 Reference - - - - - - - - KRT18P55 chr17 26646434 26646434 - C 0/51(1.00) 3070 51 hom unknown insertion chr17 - - 0.999829 0.5441 intronic TMEM97 Reference - - - - - - - - TMEM97 chr17 26669245 26669245 - G 0/27(1.00) 1657 27 hom unknown insertion chr17 rs5819838 - - 0.4706 intronic TNFAIP1 Reference - - - - - - - - TNFAIP1 chr17 26687484 26687484 - C 0/23(1.00) 1332 23 hom unknown insertion chr17 rs78534465 - - 0.4216 intronic TMEM199 Reference - - - - - - - - TMEM199 chr17 26692224 26692224 - G 0/115(1.00) 3070 115 hom frameshift insertion chr17 rs11396339 - - 0.6152 exonic SEBOX Reference - - - - - - - - SEBOX,NM_001080837,exon1,c.27dupC,p.W10fs chr17 26727722 26727722 A - 0/23(1.00) 1028 23 hom splicing deletion chr17 rs5819844 - 0.999668 0.4657 splicing SLC46A1 Reference - - - - - - - - NM_080669,exon6,c.1227-1T>-;NM_001242366,exon5,c.1143-1T>-) chr17 26850811 26850826 TCTCTCTCTCTCTCTC - 2/4(0.67) 162 6 het unknown deletion chr17 rs10527420 - - 0.3039 upstream FOXN1 Reference - - - - - - - - FOXN1 chr17 27246369 27246391 CTCCCCTCCTTGATCCTAACATT - 0/16(1.00) 819 16 hom unknown deletion chr17 rs68042462 - - 0.0907 intronic PHF12 Reference - - - - - - - - PHF12 chr17 27284567 27284567 G - 22/18(0.45) 564 40 het unknown deletion chr17 rs67322066 0.11 0.132300 0.1201 intronic SEZ6 Reference - - - - - - - - SEZ6 chr17 27290969 27290969 - G 12/15(0.56) 726 27 het unknown insertion chr17 rs11450637 0.37 0.626301 0.3407 intronic SEZ6 Reference - - - - - - - - SEZ6 chr17 27443631 27443631 - CACACACACACACACA 0/4(1.00) 188 4 het unknown insertion chr17 rs144361514 - - 0.2574 intronic MYO18A Reference - - - - - - - - MYO18A chr17 27443631 27443631 - CACACACACACACACACA 0/4(1.00) 188 4 het unknown insertion chr17 - - - 0.0196 intronic MYO18A Reference - - - - - - - - MYO18A chr17 27614759 27614759 A - 9/6(0.40) 35 15 het unknown deletion chr17 rs34613266 - 0.286908 0.2843 intronic NUFIP2 Reference - - - - - - - - NUFIP2 chr17 27861114 27861115 TC - 11/3(0.21) 84 14 het unknown deletion chr17 rs150300324 - - 0.0196 intronic TAOK1 Reference - - - - - - - - TAOK1 chr17 27901537 27901537 - A 12/15(0.56) 823 27 het unknown insertion chr17 rs35948647 0.11 - 0.1446 3-UTR GIT1 Reference - - - - - - - - GIT1 chr17 28434827 28434831 CTTTT - 4/3(0.43) 105 7 het unknown deletion chr17 rs5819880 0.81 0.537073 0.3554 intronic EFCAB5 Reference - - - - - - - - EFCAB5 chr17 28960993 28960993 - TTTTC 2/2(0.50) 92 4 het unknown insertion chr17 - - - - ncRNA_intronic LRRC37BP1 Reference - - - - - - - - LRRC37BP1 chr17 29124516 29124516 A - 0/12(1.00) 516 12 hom unknown deletion chr17 rs34513490 0.16 - 0.1397 intronic CRLF3 Reference - - - - - - - - CRLF3 chr17 29161956 29161961 CAATGT - 1/54(0.98) 2847 55 hom nonframeshift deletion chr17 rs72427574 0.16 0.085758 0.1765 exonic ATAD5 Reference - - - - - - - - ATAD5,NM_024857,exon2,c.857_862del,p.286_288del chr17 29325662 29325662 - T 32/9(0.22) 36 41 het unknown insertion chr17 - - - - intronic RNF135 Reference - - - - - - - - RNF135 chr17 29545987 29545987 - T 19/20(0.51) 555 39 het unknown insertion chr17 - 0.59 - 0.3676 intronic NF1 Reference - - - - - - - - NF1 chr17 29553336 29553336 - AC 2/4(0.67) 194 6 het unknown insertion chr17 - - - 0.0760 intronic NF1 Reference - - - - - - - - NF1 chr17 29563076 29563076 - G 13/17(0.57) 892 30 het unknown insertion chr17 - 0.41 - 0.2623 intronic NF1 Reference - - - - - - - - NF1 chr17 29563085 29563085 - G 16/11(0.41) 616 27 het unknown insertion chr17 rs56874702 - 0.042412 0.2745 intronic NF1 Reference - - - - - - - - NF1 chr17 30183663 30183663 - C 0/12(1.00) 713 12 hom unknown insertion chr17 rs74864186 0.86 - 0.3456 intronic COPRS Reference - - - - - - - - COPRS chr17 30538050 30538050 - T 15/11(0.42) 164 26 het unknown insertion chr17 - - - - intronic RHOT1 Reference - - - - - - - - RHOT1 chr17 30692199 30692199 A - 2/4(0.67) 128 6 het unknown deletion chr17 - - - 0.0074 intronic ZNF207 Reference - - - - - - - - ZNF207 chr17 30692202 30692224 AATGTTGCATGGGGCAAATGCCT - 4/4(0.50) 157 8 het unknown deletion chr17 - - - - intronic ZNF207 Reference - - - - - - - - ZNF207 chr17 31266438 31266438 - AAGG 57/44(0.44) 2415 101 het unknown insertion chr17 - - - 0.3358 intronic TMEM98 Reference - - - - - - - - TMEM98 chr17 31319127 31319128 GA - 16/4(0.20) 121 20 het unknown deletion chr17 - - - 0.0147 intronic SPACA3 Reference - - - - - - - - SPACA3 chr17 31323728 31323728 - G 0/16(1.00) 914 16 hom unknown insertion chr17 - - - 0.4240 intronic SPACA3 Reference - - - - - - - - SPACA3 chr17 31324362 31324362 - GGAG 1/4(0.80) 111 5 het unknown insertion chr17 - - - - intronic SPACA3 Reference - - - - - - - - SPACA3 chr17 31324362 31324362 - GTGTAG 1/4(0.80) 111 5 het unknown insertion chr17 - - - 0.1961 intronic SPACA3 Reference - - - - - - - - SPACA3 chr17 31355227 31355227 - G 0/12(1.00) 619 12 hom unknown insertion chr17 rs79815723 - - 0.5368 intronic ASIC2 Reference - - - - - - - - ASIC2 chr17 32965285 32965285 - A 3/3(0.50) 131 6 het unknown insertion chr17 - - 0.430223 0.2230 3-UTR TMEM132E Reference - - - - - - - - TMEM132E chr17 33462082 33462082 - AAAC 47/38(0.45) 2087 85 het unknown insertion chr17 - - - 0.1814 intronic NLE1 Reference - - - - - - - - NLE1 chr17 33479823 33479823 - C 17/15(0.47) 760 32 het unknown insertion chr17 - 0.05 - 0.0809 intronic UNC45B Reference - - - - - - - - UNC45B chr17 33592047 33592047 T - 1/82(0.99) 3070 83 hom unknown deletion chr17 rs36075495 0.24 0.081029 0.2402 intronic SLFN5 Reference - - - - - - - - SLFN5 chr17 33679204 33679204 - A 0/17(1.00) 918 17 hom unknown insertion chr17 rs74487502 - - 0.4118 3-UTR SLFN11 Reference - - - - - - - - SLFN11 chr17 33806842 33806842 G - 40/47(0.54) 2294 87 het frameshift deletion chr17 rs143471015 0.15 0.035579 0.1936 exonic SLFN12L Reference - - - - - - - - SLFN12L,NM_001195790,exon2,c.387delC,p.S129fs chr17 33963612 33963612 T - 0/19(1.00) 833 19 hom unknown deletion chr17 rs11345348 0.96 - 0.3824 intronic AP2B1 Reference - - - - - - - - AP2B1 chr17 34100350 34100350 - C 1/68(0.99) 3070 69 hom unknown insertion chr17 rs58543174 - - 0.5466 exonic MMP28 Reference - - - - - - - - MMP28 chr17 34161734 34161734 A - 4/5(0.56) 190 9 het unknown deletion chr17 - - - - intronic TAF15 Reference - - - - - - - - TAF15 chr17 34165601 34165601 - T 14/23(0.62) 1029 37 het unknown insertion chr17 - - 0.133626 0.2598 intronic TAF15 Reference - - - - - - - - TAF15 chr17 34183984 34183984 G - 15/9(0.38) 273 24 het unknown deletion chr17 rs77598005 - - 0.2990 intronic C17orf66 Reference - - - - - - - - C17orf66 chr17 34185536 34185536 G - 20/7(0.26) 161 27 het unknown deletion chr17 rs35283303 0.33 0.262700 0.3431 intronic C17orf66 Reference - - - - - - - - C17orf66 chr17 34261982 34261985 GCTA - 57/45(0.44) 2139 102 het unknown deletion chr17 rs10562162 0.21 - 0.2206 intronic LYZL6 Reference - - - - - - - - LYZL6 chr17 34341221 34341232 TCCCATAGCCCG - 3/3(0.50) 108 6 het unknown deletion chr17 rs72370203 0.13 - 0.0907 intronic CCL23 Reference - - - - - - - - CCL23 chr17 34848796 34848796 - GAAAG 34/37(0.52) 2073 71 het unknown insertion chr17 rs3830269 0.29 0.184644 0.2966 intronic ZNHIT3 Reference - - - - - - - - ZNHIT3 chr17 34855111 34855111 T - 10/23(0.70) 268 33 het unknown deletion chr17 rs111268012 - - 0.0711 3-UTR ZNHIT3 Reference - - - - - - - - ZNHIT3 chr17 34862257 34862258 TT - 35/45(0.56) 1729 80 het unknown deletion chr17 rs3050532 0.29 0.185896 0.3137 intronic MYO19 Reference - - - - - - - - MYO19 chr17 34867415 34867415 - GT 9/10(0.53) 533 19 het unknown insertion chr17 rs34476742 0.67 - 0.3799 intronic MYO19 Reference - - - - - - - - MYO19 chr17 35608782 35608783 CT - 0/20(1.00) 1062 20 hom unknown deletion chr17 rs146590038 0.68 - 0.3971 intronic ACACA Reference - - - - - - - - ACACA chr17 36093863 36093863 - CAGA 13/11(0.46) 580 24 het unknown insertion chr17 rs3216929 - - 0.3824 intronic HNF1B Reference - - - - - - - - HNF1B chr17 36358655 36358655 - G 1/3(0.75) 137 4 het unknown insertion chr17 rs202222794 - - 0.0735 ncRNA_intronic LOC440434 Reference - - - - - - - - LOC440434 chr17 36374964 36374964 A - 8/12(0.60) 30 20 het unknown deletion chr17 rs11389346 - - 0.2647 ncRNA_intronic LOC440434 Reference - - - - - - - - LOC440434 chr17 36398163 36398166 CACC - 53/25(0.32) 1070 78 het unknown deletion chr17 - - - 0.2819 ncRNA_intronic LOC440434 Reference - - - - - - - - LOC440434 chr17 36642474 36642474 T - 6/12(0.67) 34 18 het unknown deletion chr17 rs71138626 - - 0.3162 intronic ARHGAP23 Reference - - - - - - - - ARHGAP23 chr17 36654313 36654313 C - 2/3(0.60) 79 5 het unknown deletion chr17 rs56039452 0.13 - 0.0907 intronic ARHGAP23 Reference - - - - - - - - ARHGAP23 chr17 36734707 36734712 AGCCGG - 0/27(1.00) 1317 27 hom unknown deletion chr17 rs144253512 - 0.822127 0.4559 intronic SRCIN1 Reference - - - - - - - - SRCIN1 chr17 37075286 37075286 - GGGCGAGGCCCGTGG 1/131(0.99) 3070 132 hom unknown insertion chr17 rs144614922 - - 0.3358 3-UTR LASP1 Reference - - - - - - - - LASP1 chr17 38126914 38126919 ACACAC - 1/4(0.80) 148 5 het unknown deletion chr17 rs60177750 - - - intronic GSDMA Reference - - - - - - - - GSDMA chr17 38126912 38126919 ACACACAC - 1/4(0.80) 148 5 het unknown deletion chr17 rs150060808 - - 0.2475 intronic GSDMA Reference - - - - - - - - GSDMA chr17 38153714 38153714 - GA 0/99(1.00) 3070 99 hom unknown insertion chr17 rs10671123 0.87 0.930431 0.4951 intronic PSMD3 Reference - - - - - - - - PSMD3 chr17 38172973 38172973 - G 0/15(1.00) 902 15 hom unknown insertion chr17 rs78052266 - - 0.4828 intronic CSF3 Reference - - - - - - - - CSF3 chr17 38252582 38252582 - T 8/6(0.43) 296 14 het unknown insertion chr17 - 0.71 - 0.4534 intronic NR1D1 Reference - - - - - - - - NR1D1 chr17 38324767 38324767 T - 0/14(1.00) 556 14 hom unknown deletion chr17 rs11327454 - - 0.4289 intronic CASC3 Reference - - - - - - - - CASC3 chr17 38345274 38345275 AG - 11/15(0.58) 710 26 het unknown deletion chr17 rs137956498 - 0.126857 0.2941 intronic RAPGEFL1 Reference - - - - - - - - RAPGEFL1 chr17 38567799 38567802 AGCT - 26/7(0.21) 249 33 het unknown deletion chr17 - - - - intronic TOP2A Reference - - - - - - - - TOP2A chr17 38858135 38858135 A - 42/54(0.56) 2653 96 het frameshift deletion chr17 rs11309872 0.57 0.368530 0.4436 exonic KRT24 Reference - - - - - - - - KRT24,NM_019016,exon2,c.666delT,p.N222fs chr17 38922719 38922720 TC - 3/3(0.50) 84 6 het unknown deletion chr17 rs35253595 0.61 - 0.3039 3-UTR KRT26 Reference - - - - - - - - KRT26 chr17 38975308 38975319 GCCGCCGTGGCC - 4/5(0.56) 209 9 het nonframeshift deletion chr17 - - - 0.1593 exonic KRT10 Reference - - - - - - - - KRT10,NM_000421,exon7,c.1468_1479del,p.490_493del chr17 39254335 39254335 - T 76/56(0.42) 3070 132 het frameshift insertion chr17 rs201764113 0.42 0.627460 0.4436 exonic KRTAP4-8 Reference - - - - - - - - KRTAP4-8,NM_031960,exon1,c.1dupA,p.M1fs chr17 39305775 39305775 - GGCAGCAGCTGGGGC 8/9(0.53) 409 17 het nonframeshift insertion chr17 - - - 0.3824 exonic KRTAP4-5 Reference - - - - - - - - KRTAP4-5,NM_033188,exon1,c.244_245insGCCCCAGCTGCTGCC,p.Q82delinsRPSCCQ chr17 39324229 39324229 - GCAGCAGGTGGTCAG 8/6(0.43) 322 14 het nonframeshift insertion chr17 - - 0.132381 0.4926 exonic KRTAP4-3 Reference - - - - - - - - KRTAP4-3,NM_033187,exon1,c.195_196insCTGACCACCTGCTGC,p.R66delinsLTTCCR chr17 39346595 39346595 - GCTGTGGGTCCAGCTGCTGCCAGCCTA 0/110(1.00) 3070 110 hom nonframeshift insertion chr17 rs11283848 - - 0.1593 exonic KRTAP9-1 Reference - - - - - - - - KRTAP9-1,NM_001190460,exon1,c.457_458insGCTGTGGGTCCAGCTGCTGCCAGCCTA,p.C153delinsCCGSSCCQPS chr17 39394711 39394725 GACCACCTGCTGCAG - 10/5(0.33) 164 15 het nonframeshift deletion chr17 - - 0.082662 0.1716 exonic KRTAP9-8 Reference - - - - - - - - KRTAP9-8,NM_031963,exon1,c.408_422del,p.136_141del chr17 39458574 39458586 GTACAGATGGTTG - 57/27(0.32) 1206 84 het frameshift deletion chr17 rs144150438 - - 0.2794 exonic KRTAP29-1 Reference - - - - - - - - KRTAP29-1,NM_001257309,exon1,c.518_530del,p.173_177del chr17 39471753 39471767 GCCCCCGCAGCCAGA - 22/18(0.45) 832 40 het nonframeshift deletion chr17 - 0.30 0.210118 0.2696 exonic KRTAP17-1 Reference - - - - - - - - KRTAP17-1,NM_031964,exon1,c.136_150del,p.46_50del chr17 39594935 39594935 C - 0/148(1.00) 3070 148 hom unknown deletion chr17 rs71155140 - - 0.5515 intronic KRT38 Reference - - - - - - - - KRT38 chr17 39657676 39657676 - C 25/33(0.57) 1111 58 het unknown insertion chr17 - - - 0.0637 intronic KRT13 Reference - - - - - - - - KRT13 chr17 39991867 39991867 - TATC 29/25(0.46) 1371 54 het unknown insertion chr17 rs3039772 - - 0.3897 intronic NT5C3B Reference - - - - - - - - NT5C3B chr17 40142241 40142241 G - 10/9(0.47) 322 19 het unknown deletion chr17 rs145343720 0.12 0.107642 0.1397 intronic DNAJC7 Reference - - - - - - - - DNAJC7 chr17 40259937 40259937 G - 17/13(0.43) 475 30 het unknown deletion chr17 - - - 0.0147 intronic DHX58 Reference - - - - - - - - DHX58 chr17 40270040 40270040 - GA 19/13(0.41) 679 32 het unknown insertion chr17 - - 0.344398 0.1642 intronic KAT2A Reference - - - - - - - - KAT2A chr17 40270120 40270123 GAGA - 13/5(0.28) 183 18 het unknown deletion chr17 rs71835160 0.15 - 0.1495 intronic KAT2A Reference - - - - - - - - KAT2A chr17 40359536 40359542 CACACAC - 14/16(0.53) 764 30 het unknown deletion chr17 - - - 0.0074 intronic STAT5B Reference - - - - - - - - STAT5B chr17 40462797 40462798 TG - 5/3(0.38) 78 8 het unknown deletion chr17 - - - 0.0441 3-UTR STAT5A Reference - - - - - - - - STAT5A chr17 40826526 40826528 AGG - 0/15(1.00) 785 15 hom unknown deletion chr17 rs35595844 - - 0.3946 intronic PLEKHH3 Reference - - - - - - - - PLEKHH3 chr17 40835819 40835819 - T 0/50(1.00) 3070 50 hom unknown insertion chr17 rs36108420 0.45 0.565426 0.3358 intronic CNTNAP1 Reference - - - - - - - - CNTNAP1 chr17 40854534 40854534 - T 0/57(1.00) 3070 57 hom unknown insertion chr17 rs3841620 0.42 0.513933 0.3431 3-UTR EZH1 Reference - - - - - - - - EZH1 chr17 40986455 40986456 GA - 21/9(0.30) 356 30 het unknown deletion chr17 - - - 0.1544 intronic PSME3 Reference - - - - - - - - PSME3 chr17 41113132 41113132 A - 0/13(1.00) 538 13 hom unknown deletion chr17 rs35166621 0.87 - 0.4608 intronic AARSD1;PTGES3L-AARSD1 Reference - - - - - - - - AARSD1;PTGES3L-AARSD1 chr17 41116292 41116297 AGCCCT - 0/33(1.00) 1780 33 hom unknown deletion chr17 rs11278824 - 0.998794 0.4975 intronic AARSD1;PTGES3L-AARSD1 Reference - - - - - - - - AARSD1;PTGES3L-AARSD1 chr17 41121211 41121211 C - 3/34(0.92) 1702 37 het unknown deletion chr17 rs113173233 - - 0.4142 intronic PTGES3L;PTGES3L-AARSD1 Reference - - - - - - - - PTGES3L;PTGES3L-AARSD1 chr17 41327684 41327684 - TG 0/75(1.00) 3070 75 hom unknown insertion chr17 - - - 0.4118 intronic NBR1 Reference - - - - - - - - NBR1 chr17 41466121 41466131 CGGCGCATGGA - 10/13(0.57) 608 23 het unknown deletion chr17 rs66825422 - - 0.4853 ncRNA_exonic LINC00910 Reference - - - - - - - - LINC00910 chr17 41561602 41561608 GGAAGGA - 0/134(1.00) 3070 134 hom unknown deletion chr17 rs140026870 0.98 0.859362 0.5319 intronic DHX8 Reference - - - - - - - - DHX8 chr17 41566784 41566786 TCT - 16/11(0.41) 487 27 het unknown deletion chr17 rs141196624 0.28 0.358159 0.2328 intronic DHX8 Reference - - - - - - - - DHX8 chr17 41622563 41622566 GTGT - 15/4(0.21) 125 19 het unknown deletion chr17 - - - - intronic ETV4 Reference - - - - - - - - ETV4 chr17 42427544 42427544 - AGTC 28/20(0.42) 1071 48 het unknown insertion chr17 rs113219200 - 0.316054 0.3873 intronic GRN Reference - - - - - - - - GRN chr17 42455023 42455031 GAGCCCCTG - 2/3(0.60) 110 5 het unknown deletion chr17 rs34603233 0.40 0.365246 0.2843 intronic ITGA2B Reference - - - - - - - - ITGA2B chr17 43192549 43192549 - C 0/60(1.00) 3070 60 hom unknown insertion chr17 rs75518897 - 0.999666 0.5270 exonic PLCD3 Reference - - - - - - - - PLCD3 chr17 43193782 43193783 GT - 4/5(0.56) 209 9 het unknown deletion chr17 rs10555766 0.24 - 0.1618 intronic PLCD3 Reference - - - - - - - - PLCD3 chr17 43198166 43198166 - G 0/13(1.00) 692 13 hom unknown insertion chr17 rs11382448 - - 0.4191 intronic PLCD3 Reference - - - - - - - - PLCD3 chr17 43310211 43310212 TG - 34/5(0.13) 120 39 het unknown deletion chr17 rs112855430 - - - intronic FMNL1 Reference - - - - - - - - FMNL1 chr17 43319435 43319440 CCGCCG - 8/3(0.27) 93 11 het nonframeshift deletion chr17 - - - 0.0123 exonic FMNL1 Reference - - - - - - - - FMNL1,NM_005892,exon15,c.1807_1812del,p.603_604del chr17 43333786 43333789 AGAC - 1/47(0.98) 2490 48 hom unknown deletion chr17 rs76453679 0.29 0.445288 0.2868 ncRNA_intronic MAP3K14-AS1 Reference - - - - - - - - MAP3K14-AS1 chr17 43364293 43364293 - G 0/108(1.00) 3070 108 hom unknown insertion chr17 rs56405343 - 0.999828 0.5490 exonic MAP3K14 Reference - - - - - - - - MAP3K14 chr17 45234760 45234760 - A 14/17(0.55) 158 31 het unknown insertion chr17 - - 0.433802 0.2377 intronic CDC27 Reference - - - - - - - - CDC27 chr17 45291104 45291104 G - 1/81(0.99) 2890 82 hom unknown deletion chr17 rs11327482 0.85 - 0.5098 intronic MYL4 Reference - - - - - - - - MYL4 chr17 45669428 45669428 - A 21/20(0.49) 394 41 het splicing insertion chr17 - - - 0.3382 splicing NPEPPS Reference - - - - - - - - NPEPPS(NM_006310,exon11,c.1365+2->A) chr17 45734210 45734212 TTT - 17/27(0.61) 527 44 het unknown deletion chr17 rs68149542 - 0.485304 0.4412 intronic KPNB1 Reference - - - - - - - - KPNB1 chr17 45754570 45754570 C - 0/18(1.00) 795 18 hom unknown deletion chr17 rs11301979 - - 0.4363 intronic KPNB1 Reference - - - - - - - - KPNB1 chr17 46030644 46030644 - G 23/18(0.44) 640 41 het unknown insertion chr17 - 0.24 0.257152 0.2868 intronic PRR15L Reference - - - - - - - - PRR15L chr17 46655142 46655142 - C 6/5(0.45) 66 11 het unknown insertion chr17 rs151227265 0.29 - 0.1225 intronic HOXB4 Reference - - - - - - - - HOXB4 chr17 46691587 46691587 - GGCCCCCTGCCC 0/24(1.00) 1254 24 hom unknown insertion chr17 rs112987208 0.99 - 0.3946 intronic HOXB8 Reference - - - - - - - - HOXB8 chr17 46881973 46881973 A - 3/4(0.57) 118 7 het unknown deletion chr17 rs34841989 0.73 - 0.3456 intronic TTLL6 Reference - - - - - - - - TTLL6 chr17 46972480 46972483 TCTC - 0/177(1.00) 3070 177 hom unknown deletion chr17 rs3080082 0.71 0.401502 0.4534 intronic ATP5G1 Reference - - - - - - - - ATP5G1 chr17 46973140 46973140 G - 0/37(1.00) 1179 37 hom unknown deletion chr17 rs35074390 - - 0.5294 3-UTR ATP5G1 Reference - - - - - - - - ATP5G1 chr17 47010796 47010797 AG - 0/13(1.00) 675 13 hom unknown deletion chr17 rs142029486 0.70 - 0.4632 intronic SNF8 Reference - - - - - - - - SNF8 chr17 47013382 47013382 - TTTGT 1/34(0.97) 2043 35 hom unknown insertion chr17 rs140139274 - - 0.3505 intronic SNF8 Reference - - - - - - - - SNF8 chr17 47013718 47013718 T - 9/14(0.61) 259 23 het unknown deletion chr17 rs3215074 0.69 - 0.3480 intronic SNF8 Reference - - - - - - - - SNF8 chr17 47688881 47688881 - AGAG 0/22(1.00) 1342 22 hom unknown insertion chr17 rs140209761 - - 0.4020 intronic SPOP Reference - - - - - - - - SPOP chr17 48186131 48186131 - CTC 0/22(1.00) 1342 22 hom unknown insertion chr17 rs5820801 - - 0.4583 intronic PDK2 Reference - - - - - - - - PDK2 chr17 48227384 48227384 - GC 0/15(1.00) 902 15 hom unknown insertion chr17 - 0.99 0.996537 0.3407 exonic PPP1R9B Reference - - - - - - - - PPP1R9B chr17 48275182 48275182 A - 23/18(0.44) 675 41 het unknown deletion chr17 rs58135270 0.01 0.124940 0.0049 intronic COL1A1 Reference - - - - - - - - COL1A1 chr17 48276004 48276004 - C 0/17(1.00) 1028 17 hom unknown insertion chr17 rs5820805 - - 0.3971 intronic COL1A1 Reference - - - - - - - - COL1A1 chr17 48432042 48432042 - A 0/18(1.00) 1091 18 hom unknown insertion chr17 - - - 0.4657 intronic XYLT2 Reference - - - - - - - - XYLT2 chr17 48602072 48602072 - GTGTGTGTGTGTGTGT 5/5(0.50) 245 10 het unknown insertion chr17 - - - 0.0074 intronic MYCBPAP Reference - - - - - - - - MYCBPAP chr17 48646376 48646376 - GTGTGTGTGTGTTG 0/7(1.00) 165 7 het unknown insertion chr17 - - - 0.2034 intronic CACNA1G Reference - - - - - - - - CACNA1G chr17 48646376 48646376 - GTGTGTGTGTGTGTTG 0/7(1.00) 165 7 het unknown insertion chr17 - - 0.327090 0.0221 intronic CACNA1G Reference - - - - - - - - CACNA1G chr17 48668022 48668022 T - 0/31(1.00) 1669 31 hom unknown deletion chr17 rs34926473 0.90 0.399359 0.4387 intronic CACNA1G Reference - - - - - - - - CACNA1G chr17 48767976 48767978 AGC - 10/2(0.17) 35 12 het unknown deletion chr17 - - - - intronic ABCC3 Reference - - - - - - - - ABCC3 chr17 48797210 48797210 - G 0/46(1.00) 2683 46 hom unknown insertion chr17 rs11398903 - 0.999435 0.3431 intronic LUC7L3 Reference - - - - - - - - LUC7L3 chr17 48916767 48916770 GTTA - 21/29(0.58) 1410 50 het unknown deletion chr17 - - - - intronic WFIKKN2 Reference - - - - - - - - WFIKKN2 chr17 49084472 49084473 GT - 6/4(0.40) 151 10 het unknown deletion chr17 - - - 0.1054 intronic SPAG9 Reference - - - - - - - - SPAG9 chr17 51902492 51902492 - AAT 0/19(1.00) 1058 19 hom unknown insertion chr17 rs10693171 0.78 - 0.3848 3-UTR KIF2B Reference - - - - - - - - KIF2B chr17 52992129 52992129 A - 79/69(0.47) 2728 148 het unknown deletion chr17 rs3834969 0.22 0.290176 0.2868 intronic TOM1L1 Reference - - - - - - - - TOM1L1 chr17 53014232 53014232 - TTAAG 2/3(0.60) 134 5 het unknown insertion chr17 rs5821077 - - 0.2525 intronic TOM1L1 Reference - - - - - - - - TOM1L1 chr17 53014442 53014442 - T 26/18(0.41) 101 44 het unknown insertion chr17 rs113967296 - - 0.3211 intronic TOM1L1 Reference - - - - - - - - TOM1L1 chr17 53016156 53016157 TT - 1/3(0.75) 76 4 het unknown deletion chr17 rs35297544 0.12 - 0.1642 intronic TOM1L1 Reference - - - - - - - - TOM1L1 chr17 53026824 53026828 AAAAG - 36/33(0.48) 1575 69 het unknown deletion chr17 rs71159274 0.12 - 0.1936 intronic TOM1L1 Reference - - - - - - - - TOM1L1 chr17 53084698 53084698 T - 1/3(0.75) 94 4 het unknown deletion chr17 rs141409093 0.23 - 0.1225 intronic STXBP4 Reference - - - - - - - - STXBP4 chr17 53124547 53124552 GTGTGT - 6/3(0.33) 99 9 het unknown deletion chr17 rs149633875 - - 0.1275 intronic STXBP4 Reference - - - - - - - - STXBP4 chr17 53342796 53342796 - TTTC 51/35(0.41) 1900 86 het unknown insertion chr17 rs10635027 - 0.694541 0.3039 5-UTR HLF Reference - - - - - - - - HLF chr17 53392909 53392909 A - 0/19(1.00) 842 19 hom unknown deletion chr17 rs3841527 0.50 - 0.3431 intronic HLF Reference - - - - - - - - HLF chr17 53844834 53844834 T - 21/15(0.42) 194 36 het unknown deletion chr17 rs57156382 - 0.923482 0.4657 intronic PCTP Reference - - - - - - - - PCTP chr17 55065558 55065558 - A 0/17(1.00) 973 17 hom unknown insertion chr17 rs113919638 0.80 0.825879 0.3922 intronic SCPEP1 Reference - - - - - - - - SCPEP1 chr17 55182812 55182812 T - 13/14(0.52) 531 27 het unknown deletion chr17 rs3833091 0.78 0.363339 0.5196 5-UTR AKAP1 Reference - - - - - - - - AKAP1 chr17 55335128 55335128 T - 3/4(0.57) 110 7 het unknown deletion chr17 rs35477994 0.54 - 0.2647 intronic MSI2 Reference - - - - - - - - MSI2 chr17 55606875 55606875 - T 10/17(0.63) 356 27 het unknown insertion chr17 - - - 0.3333 intronic MSI2 Reference - - - - - - - - MSI2 chr17 56232460 56232463 TTTG - 14/11(0.44) 493 25 het unknown deletion chr17 rs145787234 - - 0.2475 upstream OR4D1 Reference - - - - - - - - OR4D1 chr17 56321451 56321451 - AC 5/5(0.50) 257 10 het unknown insertion chr17 - - - 0.0613 intronic LPO Reference - - - - - - - - LPO chr17 56569842 56569842 - GA 0/49(1.00) 3043 49 hom unknown insertion chr17 rs75741842 0.99 0.841613 0.4804 intronic MTMR4 Reference - - - - - - - - MTMR4 chr17 56598214 56598214 A - 21/24(0.53) 852 45 het unknown deletion chr17 rs10719315 0.52 0.359744 0.3897 3-UTR SEPT4 Reference - - - - - - - - SEPT4 chr17 56619441 56619441 - A 4/5(0.56) 248 9 het unknown insertion chr17 rs113386816 0.28 - 0.2647 intronic C17orf47 Reference - - - - - - - - C17orf47 chr17 56637002 56637002 - AAC 6/8(0.57) 422 14 het unknown insertion chr17 - - - 0.2059 intronic TEX14 Reference - - - - - - - - TEX14 chr17 56680057 56680060 TTCT - 5/8(0.62) 365 13 het unknown deletion chr17 rs200099396 0.03 - 0.0466 intronic TEX14 Reference - - - - - - - - TEX14 chr17 56833457 56833457 - GAACCC 20/24(0.55) 1335 44 het nonframeshift insertion chr17 rs201186780 0.47 - 0.2034 exonic PPM1E Reference - - - - - - - - PPM1E,NM_014906,exon1,c.99_100insGAACCC,p.P33delinsPEP chr17 57089588 57089588 - CAGCAGCAGCAGCAGCAC 5/8(0.62) 425 13 het unknown insertion chr17 - - - 0.1642 intronic TRIM37 Reference - - - - - - - - TRIM37 chr17 57466700 57466702 TCT - 12/9(0.43) 394 21 het unknown deletion chr17 rs200204114 - - 0.0392 intronic YPEL2 Reference - - - - - - - - YPEL2 chr17 57683041 57683041 - A 0/72(1.00) 3070 72 hom unknown insertion chr17 rs150025878 0.49 0.067822 0.3995 intronic DHX40 Reference - - - - - - - - DHX40 chr17 58012768 58012768 - A 0/11(1.00) 399 11 hom unknown insertion chr17 - 0.59 - 0.2525 intronic RPS6KB1 Reference - - - - - - - - RPS6KB1 chr17 58024224 58024224 - AA 0/39(1.00) 2413 39 hom unknown insertion chr17 - 0.49 - 0.3456 3-UTR RPS6KB1 Reference - - - - - - - - RPS6KB1 chr17 58786759 58786759 T - 15/13(0.46) 136 28 het unknown deletion chr17 rs113697207 - - 0.0711 intronic BCAS3 Reference - - - - - - - - BCAS3 chr17 59104905 59104908 AGAC - 5/9(0.64) 415 14 het unknown deletion chr17 rs145143441 0.09 - 0.0392 intronic BCAS3 Reference - - - - - - - - BCAS3 chr17 59480290 59480291 AT - 0/26(1.00) 1150 26 hom unknown deletion chr17 rs200207014 0.66 - 0.2353 intronic TBX2 Reference - - - - - - - - TBX2 chr17 59480312 59480332 AGAGAGAGAGAGAGAGAGAGA - 1/7(0.88) 276 8 het unknown deletion chr17 rs202026270 0.34 - 0.0025 intronic TBX2 Reference - - - - - - - - TBX2 chr17 59480314 59480332 AGAGAGAGAGAGAGAGAGA - 1/7(0.88) 276 8 het unknown deletion chr17 rs140392356 - - 0.1642 intronic TBX2 Reference - - - - - - - - TBX2 chr17 59482166 59482166 C - 2/13(0.87) 633 15 het unknown deletion chr17 rs66504335 - 0.589631 0.2868 intronic TBX2 Reference - - - - - - - - TBX2 chr17 60767954 60767954 C - 32/35(0.52) 786 67 het unknown deletion chr17 rs11357719 0.95 0.890398 0.5147 intronic MRC2 Reference - - - - - - - - MRC2 chr17 61562490 61562490 - G 3/8(0.73) 379 11 het unknown insertion chr17 rs144726912 0.68 - 0.3922 intronic ACE Reference - - - - - - - - ACE chr17 61660890 61660890 G - 0/71(1.00) 2560 71 hom splicing deletion chr17 rs66502552 - 0.999745 0.5343 splicing DCAF7 Reference - - - - - - - - NM_005828,exon6,c.556-1G>-) chr17 61781331 61781331 - AGAACC 0/220(1.00) 3070 220 hom unknown insertion chr17 rs3830487 0.53 0.285623 0.4412 3-UTR STRADA Reference - - - - - - - - STRADA chr17 61829157 61829157 - TAGTGTT 0/31(1.00) 1909 31 hom unknown insertion chr17 rs111349160 - - 0.3578 intronic CCDC47 Reference - - - - - - - - CCDC47 chr17 61889213 61889213 - A 0/100(1.00) 3070 100 hom unknown insertion chr17 - 0.58 - 0.4338 intronic DDX42 Reference - - - - - - - - DDX42 chr17 61904338 61904351 CCACTTCCAGTTTC - 0/12(1.00) 620 12 hom unknown deletion chr17 rs141581810 0.58 - 0.3750 intronic FTSJ3 Reference - - - - - - - - FTSJ3 chr17 61908056 61908056 T - 4/19(0.83) 198 23 het unknown deletion chr17 rs55833669 - - 0.3922 intronic PSMC5 Reference - - - - - - - - PSMC5 chr17 62022659 62022659 - G 0/15(1.00) 854 15 hom unknown insertion chr17 - - - 0.4363 intronic SCN4A Reference - - - - - - - - SCN4A chr17 62265839 62265839 C - 0/32(1.00) 1387 32 hom unknown deletion chr17 rs36104018 0.86 0.791967 0.5221 intronic TEX2 Reference - - - - - - - - TEX2 chr17 62463825 62463825 - G 0/23(1.00) 1405 23 hom unknown insertion chr17 rs199721035 - - 0.3922 intronic MILR1 Reference - - - - - - - - MILR1 chr17 62541865 62541865 A - 5/3(0.38) 95 8 het unknown deletion chr17 - - - - 3-UTR SMURF2 Reference - - - - - - - - SMURF2 chr17 64735035 64735035 - T 1/63(0.98) 2406 64 hom unknown insertion chr17 rs11393375 0.99 - 0.4289 intronic PRKCA Reference - - - - - - - - PRKCA chr17 64785191 64785191 - G 0/33(1.00) 2035 33 hom unknown insertion chr17 - - - 0.4608 intronic PRKCA Reference - - - - - - - - PRKCA chr17 65051105 65051105 A - 0/17(1.00) 749 17 hom unknown deletion chr17 rs11322532 - - 0.4853 intronic CACNG1 Reference - - - - - - - - CACNG1 chr17 65074354 65074354 - A 7/24(0.77) 540 31 het unknown insertion chr17 rs35467630 0.65 - 0.3676 3-UTR HELZ Reference - - - - - - - - HELZ chr17 65142070 65142070 - A 1/19(0.95) 409 20 hom unknown insertion chr17 - - - 0.3382 intronic HELZ Reference - - - - - - - - HELZ chr17 66036934 66036934 - T 2/64(0.97) 1688 66 hom unknown insertion chr17 rs75756883 - - 0.3799 intronic KPNA2 Reference - - - - - - - - KPNA2 chr17 66518781 66518781 A - 4/6(0.60) 261 10 het unknown deletion chr17 rs17550507 0.20 - 0.1520 intronic PRKAR1A Reference - - - - - - - - PRKAR1A chr17 66519857 66519857 - T 7/5(0.42) 180 12 het unknown insertion chr17 - 0.20 0.226757 0.1593 intronic PRKAR1A Reference - - - - - - - - PRKAR1A chr17 66536213 66536214 AG - 4/11(0.73) 522 15 het unknown deletion chr17 rs140180895 - - 0.1593 intronic FAM20A;PRKAR1A Reference - - - - - - - - FAM20A;PRKAR1A chr17 67287327 67287327 - T 10/6(0.38) 80 16 het unknown insertion chr17 rs34164530 - - 0.2304 intronic ABCA5 Reference - - - - - - - - ABCA5 chr17 67411382 67411382 - T 7/2(0.22) 36 9 het unknown insertion chr17 - 0.43 - 0.2819 intronic MAP2K6 Reference - - - - - - - - MAP2K6 chr17 71189155 71189155 - GG 4/9(0.69) 331 13 het unknown insertion chr17 - - - 0.2990 upstream COG1 Reference - - - - - - - - COG1 chr17 71208648 71208648 C - 12/13(0.52) 490 25 het unknown deletion chr17 rs10717516 0.63 - 0.3309 intronic FAM104A Reference - - - - - - - - FAM104A chr17 71238649 71238649 - C 0/17(1.00) 1028 17 hom unknown insertion chr17 rs5821951 0.64 - 0.2990 intronic C17orf80 Reference - - - - - - - - C17orf80 chr17 71239215 71239216 AA - 5/4(0.44) 127 9 het unknown deletion chr17 rs138600770 - - 0.2598 intronic C17orf80 Reference - - - - - - - - C17orf80 chr17 71239225 71239225 - G 5/5(0.50) 242 10 het unknown insertion chr17 - - - 0.2426 intronic C17orf80 Reference - - - - - - - - C17orf80 chr17 71433758 71433758 - G 14/20(0.59) 1117 34 het unknown insertion chr17 - 0.33 - 0.2966 intronic SDK2 Reference - - - - - - - - SDK2 chr17 72245987 72246015 CACTGTGGGGCTCCTGGGAGACGGAGCCT - 1/21(0.95) 1075 22 hom unknown deletion chr17 - - - 0.3137 intronic TTYH2 Reference - - - - - - - - TTYH2 chr17 72306117 72306118 CT - 0/69(1.00) 3070 69 hom unknown deletion chr17 rs66769719 0.92 0.768014 0.5049 intronic DNAI2 Reference - - - - - - - - DNAI2 chr17 72338165 72338165 C - 0/36(1.00) 1398 36 hom unknown deletion chr17 rs11285065 - - 0.4657 intronic KIF19 Reference - - - - - - - - KIF19 chr17 72439809 72439809 G - 0/54(1.00) 2472 54 hom unknown deletion chr17 rs3840056 0.78 - 0.4020 intronic GPRC5C Reference - - - - - - - - GPRC5C chr17 72791088 72791088 - G 13/12(0.48) 638 25 het unknown insertion chr17 rs113533884 0.70 - 0.3897 intronic TMEM104 Reference - - - - - - - - TMEM104 chr17 72888542 72888542 C - 0/11(1.00) 362 11 hom unknown deletion chr17 rs10715050 - - 0.4142 intronic FADS6 Reference - - - - - - - - FADS6 chr17 72937367 72937374 CCCAACCA - 2/4(0.67) 162 6 het unknown deletion chr17 rs60098450 - - 0.2819 intronic OTOP3 Reference - - - - - - - - OTOP3 chr17 72945213 72945215 AGA - 5/7(0.58) 310 12 het unknown deletion chr17 rs139084906 0.26 - 0.2083 intronic OTOP3 Reference - - - - - - - - OTOP3 chr17 72957963 72957963 T - 0/66(1.00) 3031 66 hom unknown deletion chr17 rs10719287 0.93 0.524042 0.5294 intronic HID1 Reference - - - - - - - - HID1 chr17 72997364 72997364 - AGG 16/18(0.53) 988 34 het unknown insertion chr17 rs138091791 0.18 - 0.2059 intronic CDR2L Reference - - - - - - - - CDR2L chr17 73094787 73094787 - TTTG 1/3(0.75) 137 4 het unknown insertion chr17 rs143801301 - - 0.1838 intronic SLC16A5 Reference - - - - - - - - SLC16A5 chr17 73126747 73126747 T - 0/128(1.00) 3070 128 hom unknown deletion chr17 rs10715821 - 0.910942 0.5515 intronic NT5C Reference - - - - - - - - NT5C chr17 73208205 73208205 - TT 0/5(1.00) 212 5 het unknown insertion chr17 - - - 0.0172 intronic NUP85 Reference - - - - - - - - NUP85 chr17 73208205 73208205 - TGTT 0/5(1.00) 212 5 het unknown insertion chr17 rs199603926 - - 0.3137 intronic NUP85 Reference - - - - - - - - NUP85 chr17 73231818 73231818 T - 0/36(1.00) 1144 36 hom unknown deletion chr17 rs3841603 0.93 0.837360 0.4044 3-UTR NUP85 Reference - - - - - - - - NUP85 chr17 73258086 73258087 GC - 0/49(1.00) 2631 49 hom unknown deletion chr17 rs201885017 0.99 - 0.5245 intronic GGA3;MRPS7 Reference - - - - - - - - MRPS7;GGA3 chr17 73482111 73482111 C - 8/7(0.47) 241 15 het unknown deletion chr17 rs11331365 0.53 0.832529 0.4142 intronic KIAA0195 Reference - - - - - - - - KIAA0195 chr17 73611724 73611724 - TC 34/25(0.42) 1356 59 het unknown insertion chr17 rs35131709 0.16 - 0.2255 ncRNA_intronic MYO15B Reference - - - - - - - - MYO15B chr17 73612642 73612642 - T 0/120(1.00) 3070 120 hom unknown insertion chr17 rs11439064 - - 0.5515 ncRNA_exonic MYO15B Reference - - - - - - - - MYO15B chr17 73616212 73616212 G - 0/21(1.00) 935 21 hom unknown deletion chr17 rs3840857 0.53 - 0.3627 ncRNA_intronic MYO15B Reference - - - - - - - - MYO15B chr17 73619956 73619958 CTG - 0/46(1.00) 2474 46 hom unknown deletion chr17 rs10578377 - - 0.4289 ncRNA_intronic MYO15B Reference - - - - - - - - MYO15B chr17 73626922 73626922 - T 19/15(0.44) 805 34 het unknown insertion chr17 - - - 0.2941 intronic RECQL5 Reference - - - - - - - - RECQL5 chr17 73626923 73626923 - T 22/8(0.27) 322 30 het unknown insertion chr17 rs55982817 - - 0.2941 intronic RECQL5 Reference - - - - - - - - RECQL5 chr17 73723454 73723454 C - 0/100(1.00) 3070 100 hom unknown deletion chr17 rs34275940 - 0.999920 0.5368 intronic ITGB4 Reference - - - - - - - - ITGB4 chr17 73751042 73751042 - ACAT 16/14(0.47) 751 30 het unknown insertion chr17 rs113503923 - - 0.4412 intronic ITGB4 Reference - - - - - - - - ITGB4 chr17 73759039 73759039 C - 0/47(1.00) 2057 47 hom unknown deletion chr17 rs35008831 - - 0.5392 intronic GALK1 Reference - - - - - - - - GALK1 chr17 73872969 73872969 - G 8/5(0.38) 177 13 het unknown insertion chr17 rs111349724 0.11 - 0.0956 intronic TRIM47 Reference - - - - - - - - TRIM47 chr17 73887808 73887828 GCACACACACACGTGCTCACA - 8/10(0.56) 457 18 het unknown deletion chr17 rs11270925 - - 0.0294 intronic TRIM65 Reference - - - - - - - - TRIM65 chr17 73913966 73913966 C - 0/22(1.00) 842 22 hom unknown deletion chr17 rs11288315 - 0.999657 0.5417 intronic FBF1 Reference - - - - - - - - FBF1 chr17 74076128 74076128 C - 4/3(0.43) 60 7 het unknown deletion chr17 rs34700740 0.47 0.438988 0.3186 intronic ZACN Reference - - - - - - - - ZACN chr17 74208622 74208622 - A 13/15(0.54) 185 28 het unknown insertion chr17 rs35372072 0.48 - 0.2966 intronic RNF157 Reference - - - - - - - - RNF157 chr17 74283143 74283170 ACACACACACACACACACACACACACAT - 8/3(0.27) 80 11 het unknown deletion chr17 rs11271405 - - 0.1373 intronic QRICH2 Reference - - - - - - - - QRICH2 chr17 74288565 74288567 TGA - 39/60(0.61) 2974 99 het nonframeshift deletion chr17 rs35035566 0.59 0.416134 0.5637 exonic QRICH2 Reference - - - - - - - - QRICH2,NM_032134,exon4,c.1743_1745del,p.581_582del chr17 74401406 74401406 G - 0/83(1.00) 3070 83 hom unknown deletion chr17 rs11290311 - - 0.5245 intronic UBE2O Reference - - - - - - - - UBE2O chr17 74527846 74527846 - G 18/21(0.54) 798 39 het unknown insertion chr17 - 0.37 - 0.3456 intronic CYGB Reference - - - - - - - - CYGB chr17 74557804 74557804 T - 1/47(0.98) 1025 48 hom unknown deletion chr17 rs60161580 - - 0.4387 ncRNA_intronic SNHG16 Reference - - - - - - - - SNHG16 chr17 74623333 74623333 - G 20/20(0.50) 735 40 het unknown insertion chr17 - 0.06 0.012300 0.1005 intronic ST6GALNAC1 Reference - - - - - - - - ST6GALNAC1 chr17 74625870 74625870 - G 9/7(0.44) 298 16 het unknown insertion chr17 rs11404475 0.45 - 0.3480 intronic ST6GALNAC1 Reference - - - - - - - - ST6GALNAC1 chr17 74750215 74750215 - T 0/96(1.00) 3070 96 hom unknown insertion chr17 rs11399997 - 0.991294 0.4142 intronic MFSD11 Reference - - - - - - - - MFSD11 chr17 76116666 76116678 TCCCGGCCACACG - 56/46(0.45) 2133 102 het unknown deletion chr17 rs111815200 - - 0.1789 intronic TMC6 Reference - - - - - - - - TMC6 chr17 76456403 76456403 - GTGCATGTGT 2/8(0.80) 375 10 het unknown insertion chr17 rs148454093 - - 0.1765 intronic DNAH17 Reference - - - - - - - - DNAH17 chr17 76456444 76456447 GCAC - 8/6(0.43) 241 14 het unknown deletion chr17 rs147583918 - - 0.1225 intronic DNAH17 Reference - - - - - - - - DNAH17 chr17 76456455 76456460 AGTGTA - 9/3(0.25) 75 12 het unknown deletion chr17 - - - 0.0956 intronic DNAH17 Reference - - - - - - - - DNAH17 chr17 76533269 76533269 - AAAG 23/22(0.49) 1001 45 het unknown insertion chr17 rs111781371 - - 0.3064 intronic DNAH17 Reference - - - - - - - - DNAH17 chr17 76798549 76798554 TTTTTC - 4/5(0.56) 178 9 het nonframeshift deletion chr17 rs71964596 0.41 0.383706 0.3946 exonic USP36 Reference - - - - - - - - USP36,NM_025090,exon17,c.2874_2879del,p.958_960del chr17 77087005 77087005 - A 0/59(1.00) 3070 59 hom unknown insertion chr17 rs112100897 0.35 0.384005 0.3456 intronic RBFOX3 Reference - - - - - - - - RBFOX3 chr17 77809597 77809597 - CT 4/7(0.64) 368 11 het unknown insertion chr17 - - - 0.2500 intronic CBX4 Reference - - - - - - - - CBX4 chr17 78064145 78064145 - CAC 18/20(0.53) 1105 38 het nonframeshift insertion chr17 rs10693712 - - 0.3333 exonic CCDC40 Reference - - - - - - - - CCDC40,NM_001243342,exon18,c.3040_3041insCAC,p.R1014delinsTR chr17 78064248 78064248 A - 10/5(0.33) 148 15 het unknown deletion chr17 rs59101374 0.28 - 0.3039 3-UTR CCDC40 Reference - - - - - - - - CCDC40 chr17 78081526 78081526 - GCAGCGG 39/40(0.51) 2006 79 het unknown insertion chr17 rs3071247 0.56 - 0.3554 intronic GAA Reference - - - - - - - - GAA chr17 78083505 78083510 AAAGGT - 4/3(0.43) 105 7 het unknown deletion chr17 rs148638085 0.55 - 0.2721 intronic GAA Reference - - - - - - - - GAA chr17 78084941 78084941 C - 4/7(0.64) 313 11 het unknown deletion chr17 rs199788201 0.29 - 0.2328 intronic GAA Reference - - - - - - - - GAA chr17 78187722 78187723 AG - 3/92(0.97) 3070 95 hom unknown deletion chr17 rs34029730 - 0.294288 0.3480 intronic SGSH Reference - - - - - - - - SGSH chr17 78196742 78196742 - GTG 5/2(0.29) 65 7 het unknown insertion chr17 rs5822330 - - 0.2745 intronic SLC26A11 Reference - - - - - - - - SLC26A11 chr17 78222639 78222639 C - 6/3(0.33) 99 9 het unknown deletion chr17 rs34911974 0.62 - 0.3456 intronic SLC26A11 Reference - - - - - - - - SLC26A11 chr17 78345567 78345567 - AC 22/13(0.37) 673 35 het unknown insertion chr17 rs111992928 - - 0.1691 ncRNA_intronic LOC100294362 Reference - - - - - - - - LOC100294362 chr17 78971149 78971149 C - 55/17(0.24) 306 72 het unknown deletion chr17 rs11362653 0.39 0.410623 0.2794 intronic CHMP6 Reference - - - - - - - - CHMP6 chr17 79093142 79093142 - CGCGTGCCCTACCTCT 0/14(1.00) 834 14 hom unknown insertion chr17 rs144250320 - - 0.2402 intronic AATK Reference - - - - - - - - AATK chr17 79219501 79219503 ATG - 21/32(0.60) 1567 53 het nonframeshift deletion chr17 rs10569617 0.69 0.331628 0.5637 exonic SLC38A10 Reference - - - - - - - - SLC38A10,NM_001037984,exon16,c.3213_3215del,p.1071_1072del chr17 79246270 79246270 - C 7/6(0.46) 229 13 het unknown insertion chr17 rs3841622 0.19 0.541134 0.2181 intronic SLC38A10 Reference - - - - - - - - SLC38A10 chr17 79279019 79279019 - C 21/20(0.49) 863 41 het unknown insertion chr17 rs3215153 0.13 0.068910 0.1936 ncRNA_exonic LINC00482 Reference - - - - - - - - LINC00482 chr17 79372928 79372928 - GTGT 1/6(0.86) 314 7 het unknown insertion chr17 - - - 0.2181 upstream BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390207 79390210 TGTA - 26/4(0.13) 93 30 het unknown deletion chr17 - - - 0.0025 intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390233 79390234 TA - 18/6(0.25) 208 24 het unknown deletion chr17 - - - 0.0049 intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390243 79390243 - GCGC 21/4(0.16) 113 25 het unknown insertion chr17 - - - - intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390255 79390255 T - 19/6(0.24) 165 25 het unknown deletion chr17 - - - 0.1005 intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390260 79390260 - GTGT 9/4(0.31) 172 13 het unknown insertion chr17 rs151241907 - - 0.1593 intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390271 79390271 - CA 11/8(0.42) 403 19 het unknown insertion chr17 - - - 0.0270 intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79390298 79390298 - GC 11/20(0.65) 1121 31 het unknown insertion chr17 rs141287629 - - 0.2990 intronic BAHCC1 Reference - - - - - - - - BAHCC1 chr17 79477899 79477899 C - 37/34(0.48) 997 71 het unknown deletion chr17 rs59886367 - 0.245927 0.5343 intronic ACTG1 Reference - - - - - - - - ACTG1 chr17 79573860 79573860 - TTAA 11/11(0.50) 586 22 het unknown insertion chr17 rs10695650 0.22 - 0.2353 intronic NPLOC4 Reference - - - - - - - - NPLOC4 chr17 79604482 79604482 T - 3/25(0.89) 256 28 het unknown deletion chr17 - - - - upstream NPLOC4 Reference - - - - - - - - NPLOC4 chr17 79604478 79604482 TTTTT - 3/25(0.89) 256 28 het unknown deletion chr17 rs57463122 - - 0.2892 upstream NPLOC4 Reference - - - - - - - - NPLOC4 chr17 79614933 79614936 TAAC - 0/48(1.00) 2608 48 hom splicing deletion chr17 rs34872037 0.99 0.709242 0.5294 splicing TSPAN10 Reference - - - - - - - - TSPAN10 chr17 79617937 79617937 C - 3/7(0.70) 256 10 het unknown deletion chr17 rs58894371 0.21 - 0.1936 3-UTR PDE6G Reference - - - - - - - - PDE6G chr17 79990973 79990973 G - 0/15(1.00) 627 15 hom unknown deletion chr17 rs10708637 - - 0.4338 intronic RAC3 Reference - - - - - - - - RAC3 chr17 80109024 80109041 CACCTAGAACCAGGCGCA - 2/14(0.88) 563 16 het unknown deletion chr17 - - - 0.2010 intronic CCDC57 Reference - - - - - - - - CCDC57 chr17 80426551 80426551 A - 0/33(1.00) 1494 33 hom unknown deletion chr17 rs3214988 0.88 - 0.4314 intronic NARF Reference - - - - - - - - NARF chr17 80443296 80443296 - A 0/26(1.00) 547 26 hom unknown insertion chr17 - - - 0.3578 intronic NARF Reference - - - - - - - - NARF chr17 80601770 80601770 A - 0/62(1.00) 2844 62 hom unknown deletion chr17 rs59318270 0.78 0.825541 0.3799 intronic WDR45B Reference - - - - - - - - WDR45B chr17 80786027 80786030 ACAG - 64/46(0.42) 2154 110 het unknown deletion chr17 rs78229497 - - 0.3897 intronic TBCD Reference - - - - - - - - TBCD chr17 80786185 80786188 CACA - 31/26(0.46) 1225 57 het unknown deletion chr17 - - - - intronic TBCD Reference - - - - - - - - TBCD chr17 80786261 80786261 - ACAC 39/42(0.52) 2358 81 het unknown insertion chr17 rs138156874 0.54 - 0.4314 intronic TBCD Reference - - - - - - - - TBCD chr17 80786428 80786428 C - 0/75(1.00) 2183 75 hom unknown deletion chr17 rs68009656 - - 0.5515 intronic TBCD Reference - - - - - - - - TBCD chr17 80786628 80786629 CA - 23/17(0.42) 779 40 het unknown deletion chr17 rs34655768 0.39 - 0.3260 intronic TBCD Reference - - - - - - - - TBCD chr17 80887538 80887538 A - 16/14(0.47) 643 30 het unknown deletion chr17 rs146460515 0.07 - 0.0711 intronic TBCD Reference - - - - - - - - TBCD chr17 81050833 81050833 - G 0/103(1.00) 3070 103 hom unknown insertion chr17 - 0.40 - 0.3284 intronic METRNL Reference - - - - - - - - METRNL chr18 197742 197742 T - 0/13(1.00) 216 13 hom unknown deletion chr18 rs35489764 - 0.353064 0.0858 intronic USP14 Reference - - - - - - - - USP14 chr18 627027 627027 G - 0/14(1.00) 730 14 hom unknown deletion chr18 - - - 0.2083 intronic CLUL1 Reference - - - - - - - - CLUL1 chr18 669293 669296 TTGA - 0/34(1.00) 1835 34 hom unknown deletion chr18 rs147919381 0.68 - 0.3799 intronic TYMS Reference - - - - - - - - TYMS chr18 693987 693988 CT - 0/70(1.00) 3070 70 hom unknown deletion chr18 rs3217714 0.68 0.636146 0.4093 intronic ENOSF1 Reference - - - - - - - - ENOSF1 chr18 2606597 2606598 TT - 9/5(0.36) 141 14 het unknown deletion chr18 rs4035305 0.71 - 0.3186 intronic NDC80 Reference - - - - - - - - NDC80 chr18 2738352 2738352 - AGAC 9/7(0.44) 352 16 het unknown insertion chr18 rs71365196 0.45 0.275378 0.2990 intronic SMCHD1 Reference - - - - - - - - SMCHD1 chr18 2771643 2771643 - T 5/4(0.44) 94 9 het unknown insertion chr18 rs3214732 0.45 0.271977 0.2966 intronic SMCHD1 Reference - - - - - - - - SMCHD1 chr18 3072052 3072052 - T 7/9(0.56) 38 16 het unknown insertion chr18 - - - 0.1618 intronic MYOM1 Reference - - - - - - - - MYOM1 chr18 3075503 3075503 - AAA 0/87(1.00) 3070 87 hom unknown insertion chr18 - - 0.995255 0.4167 intronic MYOM1 Reference - - - - - - - - MYOM1 chr18 3085192 3085192 T - 17/16(0.48) 175 33 het unknown deletion chr18 rs148266515 - - 0.3113 intronic MYOM1 Reference - - - - - - - - MYOM1 chr18 3188667 3188668 AC - 0/22(1.00) 148 22 het unknown deletion chr18 - - - - intronic MYOM1 Reference - - - - - - - - MYOM1 chr18 3188665 3188668 ACAC - 0/22(1.00) 148 22 het unknown deletion chr18 - - - 0.0025 intronic MYOM1 Reference - - - - - - - - MYOM1 chr18 5437961 5437961 - C 0/58(1.00) 3070 58 hom unknown insertion chr18 - 0.81 - 0.4142 intronic EPB41L3 Reference - - - - - - - - EPB41L3 chr18 5956503 5956504 CT - 27/6(0.18) 193 33 het unknown deletion chr18 rs34472471 0.47 - 0.3578 intronic L3MBTL4 Reference - - - - - - - - L3MBTL4 chr18 6956505 6956516 CAGCTCCAGCTC - 2/97(0.98) 3070 99 hom unknown deletion chr18 rs11270496 - - 0.2402 intronic LAMA1 Reference - - - - - - - - LAMA1 chr18 7016795 7016795 C - 2/2(0.50) 34 4 het unknown deletion chr18 rs35419086 0.23 - 0.2328 intronic LAMA1 Reference - - - - - - - - LAMA1 chr18 8793367 8793371 CTAAT - 3/4(0.57) 160 7 het unknown deletion chr18 rs72118538 0.30 - 0.2083 intronic SOGA2 Reference - - - - - - - - SOGA2 chr18 8809419 8809420 CA - 35/36(0.51) 1705 71 het unknown deletion chr18 rs10583994 0.34 - 0.2892 intronic SOGA2 Reference - - - - - - - - SOGA2 chr18 9859134 9859134 - AATATT 0/16(1.00) 965 16 hom unknown insertion chr18 rs10695443 - - 0.4044 intronic RAB31 Reference - - - - - - - - RAB31 chr18 9886569 9886572 TATG - 1/12(0.92) 368 13 het unknown deletion chr18 rs112324257 - - 0.3284 intronic TXNDC2 Reference - - - - - - - - TXNDC2 chr18 9886572 9886572 - T het unknown insertion chr18 - - 0.452343 0.4363 intronic TXNDC2 Reference - - - - - - - - TXNDC2 chr18 10784734 10784734 A - 0/16(1.00) 841 16 hom unknown deletion chr18 rs3830641 0.94 0.830821 0.4730 intronic PIEZO2 Reference - - - - - - - - PIEZO2 chr18 10797338 10797338 - ATC 11/13(0.54) 707 24 het unknown insertion chr18 rs145681764 - - 0.1961 intronic PIEZO2 Reference - - - - - - - - PIEZO2 chr18 11619800 11619802 TGT - 0/22(1.00) 1172 22 hom unknown deletion chr18 rs112261054 - - 0.5245 intergenic SLC35G4;GNAL Reference - - - - - - - - SLC35G4(dist=9189);GNAL(dist=69212) chr18 11824879 11824879 - T 4/30(0.88) 418 34 het unknown insertion chr18 - - - 0.2672 intronic GNAL Reference - - - - - - - - GNAL chr18 12014383 12014383 - A 33/22(0.40) 1110 55 het unknown insertion chr18 - 0.10 0.045106 0.1348 intronic IMPA2 Reference - - - - - - - - IMPA2 chr18 12027942 12027942 T - 16/7(0.30) 278 23 het unknown deletion chr18 rs45446291 0.71 - 0.3652 intronic IMPA2 Reference - - - - - - - - IMPA2 chr18 12254562 12254562 - CCGCGCACACACCCAT 1/58(0.98) 3070 59 hom unknown insertion chr18 rs71369912 - - 0.3260 intronic CIDEA Reference - - - - - - - - CIDEA chr18 12712818 12712820 ATT - 4/4(0.50) 157 8 het unknown deletion chr18 rs144051037 0.09 0.024679 0.0784 intronic PSMG2 Reference - - - - - - - - PSMG2 chr18 12955440 12955440 T - 5/8(0.62) 58 13 het unknown deletion chr18 rs11286163 - - 0.3725 intronic SEH1L Reference - - - - - - - - SEH1L chr18 12982792 12982793 AT - 6/6(0.50) 255 12 het unknown deletion chr18 rs141538021 0.13 - 0.1225 intronic SEH1L Reference - - - - - - - - SEH1L chr18 12986802 12986802 - T 2/13(0.87) 199 15 het unknown insertion chr18 - - - 0.2230 3-UTR SEH1L Reference - - - - - - - - SEH1L chr18 12986802 12986802 - TT 2/13(0.87) 199 15 het unknown insertion chr18 - - - 0.0980 3-UTR SEH1L Reference - - - - - - - - SEH1L chr18 13024459 13024462 TTTA - 6/4(0.40) 151 10 het unknown deletion chr18 rs200229392 - - 0.0417 intronic CEP192 Reference - - - - - - - - CEP192 chr18 13049948 13049948 - A 0/13(1.00) 420 13 hom unknown insertion chr18 rs11463677 0.81 - 0.3382 intronic CEP192 Reference - - - - - - - - CEP192 chr18 13671977 13671977 A - 5/14(0.74) 146 19 het unknown deletion chr18 - - - 0.0466 intronic FAM210A Reference - - - - - - - - FAM210A chr18 19119975 19119976 AT - 2/11(0.85) 528 13 het unknown deletion chr18 rs35031202 - - 0.3431 intronic ESCO1 Reference - - - - - - - - ESCO1 chr18 19780528 19780528 C - 0/75(1.00) 3070 75 hom unknown deletion chr18 rs11352746 - - 0.4632 intronic GATA6 Reference - - - - - - - - GATA6 chr18 21107628 21107628 - TATTGTATTTCT 0/22(1.00) 1327 22 hom unknown insertion chr18 rs111369676 0.89 - 0.3701 intronic C18orf8 Reference - - - - - - - - C18orf8 chr18 21530259 21530259 A - 1/3(0.75) 114 4 het unknown deletion chr18 rs149985809 0.08 - 0.0613 intronic LAMA3 Reference - - - - - - - - LAMA3 chr18 24039965 24039965 T - 0/27(1.00) 849 27 hom unknown deletion chr18 rs60430547 0.95 - 0.4485 intronic KCTD1 Reference - - - - - - - - KCTD1 chr18 28598867 28598868 TG - 5/3(0.38) 89 8 het unknown deletion chr18 rs5823777 0.87 - 0.3064 intronic DSC3 Reference - - - - - - - - DSC3 chr18 28666526 28666526 - TAA 0/22(1.00) 1342 22 hom unknown insertion chr18 rs35717505 - 0.996725 0.5343 intronic DSC2 Reference - - - - - - - - DSC2 chr18 28671382 28671382 A - 19/20(0.51) 362 39 het unknown deletion chr18 rs34593516 - - 0.2108 intronic DSC2 Reference - - - - - - - - DSC2 chr18 29625524 29625524 - A 7/5(0.42) 34 12 het unknown insertion chr18 rs113849815 - - 0.0221 intronic RNF125 Reference - - - - - - - - RNF125 chr18 29672593 29672593 G - 1/3(0.75) 82 4 het unknown deletion chr18 rs28364713 0.24 - 0.1642 5-UTR RNF138 Reference - - - - - - - - RNF138 chr18 30352058 30352065 CGCCGGCC - 1/49(0.98) 2527 50 hom unknown deletion chr18 rs200605696 0.46 - 0.1765 intronic KLHL14 Reference - - - - - - - - KLHL14 chr18 32886528 32886528 - AGTC 9/10(0.53) 533 19 het unknown insertion chr18 rs147217916 - - 0.3873 ncRNA_exonic ZNF271 Reference - - - - - - - - ZNF271 chr18 33718201 33718201 - C 9/12(0.57) 653 21 het unknown insertion chr18 rs74715150 0.66 0.398243 0.3922 intronic ELP2 Reference - - - - - - - - ELP2 chr18 33848663 33848663 - TACAT 0/20(1.00) 1216 20 hom unknown insertion chr18 rs111317566 - 0.851278 0.4191 3-UTR MOCOS Reference - - - - - - - - MOCOS chr18 34261582 34261582 G - 0/13(1.00) 562 13 hom unknown deletion chr18 rs34100890 0.64 0.672579 0.3701 intronic FHOD3 Reference - - - - - - - - FHOD3 chr18 35145660 35145660 - CTCG 0/14(1.00) 815 14 hom unknown insertion chr18 rs138975334 - - 0.4191 5-UTR CELF4 Reference - - - - - - - - CELF4 chr18 39535169 39535169 - C 3/3(0.50) 121 6 het unknown insertion chr18 rs3833864 0.29 - 0.2230 upstream PIK3C3 Reference - - - - - - - - PIK3C3 chr18 39542408 39542409 AT - 0/14(1.00) 730 14 hom unknown deletion chr18 rs33946724 0.59 0.497512 0.3235 intronic PIK3C3 Reference - - - - - - - - PIK3C3 chr18 43547128 43547128 G - 0/91(1.00) 3070 91 hom unknown deletion chr18 rs11301517 - 0.999663 0.4926 intronic EPG5 Reference - - - - - - - - EPG5 chr18 43572178 43572178 - AAG 23/26(0.53) 1450 49 het unknown insertion chr18 rs113089939 0.44 0.237572 0.3407 intronic PSTPIP2 Reference - - - - - - - - PSTPIP2 chr18 43595851 43595851 A - 15/18(0.55) 272 33 het unknown deletion chr18 rs11349070 - - 0.2966 intronic PSTPIP2 Reference - - - - - - - - PSTPIP2 chr18 43833701 43833701 - CTG 0/48(1.00) 2980 48 hom nonframeshift insertion chr18 rs34068795 0.60 - 0.4877 exonic C18orf25 Reference - - - - - - - - C18orf25,NM_001008239,exon3,c.754_755insCTG,p.S252delinsSA;C18orf25,NM_145055,exon4,c.937_938insCTG,p.S313delinsSA chr18 44063719 44063719 C - 11/14(0.56) 658 25 het unknown deletion chr18 rs143514947 0.01 0.240042 0.0074 intronic LOXHD1 Reference - - - - - - - - LOXHD1 chr18 46889624 46889624 - T 37/39(0.51) 816 76 het unknown insertion chr18 rs150301830 0.26 0.207268 0.2574 intronic DYM Reference - - - - - - - - DYM chr18 47014953 47014953 - TGT 45/48(0.52) 2703 93 het unknown insertion chr18 rs35737964 - 0.456129 0.3627 intronic RPL17;RPL17-C18orf32 Reference - - - - - - - - RPL17;RPL17-C18orf32 chr18 47015609 47015609 - A 12/7(0.37) 298 19 het unknown insertion chr18 rs36084909 0.42 - 0.2745 ncRNA_exonic SNORD58C Reference - - - - - - - - SNORD58C chr18 47320851 47320852 AT - 3/3(0.50) 108 6 het unknown deletion chr18 rs34944087 0.38 - 0.2426 intronic ACAA2 Reference - - - - - - - - ACAA2 chr18 47352732 47352732 T - 12/7(0.37) 290 19 het unknown deletion chr18 rs34922262 0.30 - 0.2770 3-UTR MYO5B Reference - - - - - - - - MYO5B chr18 47405425 47405425 - GAG 60/62(0.51) 3070 122 het nonframeshift insertion chr18 rs10625857 0.52 0.301872 0.4877 exonic MYO5B Reference - - - - - - - - MYO5B,NM_001080467,exon24,c.3165_3166insCTC,p.M1056delinsLM chr18 48466025 48466027 TGT - 12/4(0.25) 133 16 het unknown deletion chr18 rs144281928 0.03 - 0.0490 intronic ME2 Reference - - - - - - - - ME2 chr18 48723146 48723154 GCCGCCGCG - 16/21(0.57) 1019 37 het nonframeshift deletion chr18 rs147438518 0.23 0.402724 0.1446 exonic MEX3C Reference - - - - - - - - MEX3C,NM_016626,exon1,c.537_545del,p.179_182del chr18 50589905 50589905 - A 4/5(0.56) 52 9 het unknown insertion chr18 rs74178701 - - 0.1250 intronic DCC Reference - - - - - - - - DCC chr18 50929099 50929101 AAT - 47/39(0.45) 1856 86 het unknown deletion chr18 rs10612041 0.46 - 0.3137 intronic DCC Reference - - - - - - - - DCC chr18 51053218 51053218 - CACCCCAGGC 4/7(0.64) 365 11 het unknown insertion chr18 rs113173464 - - 0.3505 intronic DCC Reference - - - - - - - - DCC chr18 51795958 51795960 CGA - 12/18(0.60) 863 30 het nonframeshift deletion chr18 rs10584411 0.72 0.761172 0.6127 exonic POLI Reference - - - - - - - - POLI,NM_007195,exon1,c.42_44del,p.14_15del chr18 52585074 52585081 ACACACAC - 0/19(1.00) 202 19 het unknown deletion chr18 rs67340432 - - - intronic CCDC68 Reference - - - - - - - - CCDC68 chr18 52585072 52585081 ACACACACAC - 0/19(1.00) 202 19 het unknown deletion chr18 - - - - intronic CCDC68 Reference - - - - - - - - CCDC68 chr18 53131203 53131210 GTGTGTGA - 9/8(0.47) 316 17 het unknown deletion chr18 rs143184224 - - 0.2475 intronic TCF4 Reference - - - - - - - - TCF4 chr18 53696213 53696216 TGAG - 13/16(0.55) 756 29 het unknown deletion chr18 rs34257372 0.41 - 0.2819 intergenic TCF4;LOC100505474 Reference - - - - - - - - TCF4(dist=393025);LOC100505474(dist=54371) chr18 54346745 54346745 - T 1/19(0.95) 409 20 hom unknown insertion chr18 - - - 0.3701 intronic WDR7 Reference - - - - - - - - WDR7 chr18 54354076 54354076 - TC 0/25(1.00) 1531 25 hom unknown insertion chr18 rs5825199 - - 0.3995 intronic WDR7 Reference - - - - - - - - WDR7 chr18 55019964 55019975 CACACACACACA - 7/3(0.30) 94 10 het unknown deletion chr18 - - - 0.0074 5-UTR ST8SIA3 Reference - - - - - - - - ST8SIA3 chr18 55352471 55352473 TTA - 11/14(0.56) 658 25 het unknown deletion chr18 rs143958246 0.79 - 0.4020 intronic ATP8B1 Reference - - - - - - - - ATP8B1 chr18 56054617 56054617 T - 1/19(0.95) 264 20 hom unknown deletion chr18 rs5825274 - - 0.3235 intronic NEDD4L Reference - - - - - - - - NEDD4L chr18 56204388 56204402 CAGTTGATGTGTCCT - 88/52(0.37) 2421 140 het nonframeshift deletion chr18 rs67925233 - 0.476430 0.2696 exonic ALPK2 Reference - - - - - - - - ALPK2,NM_052947,exon5,c.3017_3031del,p.1006_1011del chr18 57026573 57026573 - C 6/8(0.57) 282 14 het unknown insertion chr18 rs140141851 - - 0.2843 upstream LMAN1 Reference - - - - - - - - LMAN1 chr18 59206197 59206197 - T 17/15(0.47) 338 32 het unknown insertion chr18 rs201778707 0.87 - 0.4951 intronic CDH20 Reference - - - - - - - - CDH20 chr18 59854642 59854654 GCTGTGGAGGTGC - 11/9(0.45) 397 20 het unknown deletion chr18 rs142041492 0.17 - 0.1789 5-UTR KIAA1468 Reference - - - - - - - - KIAA1468 chr18 59936630 59936630 - T 14/12(0.46) 180 26 het unknown insertion chr18 rs138257442 0.20 - 0.1397 intronic KIAA1468 Reference - - - - - - - - KIAA1468 chr18 60212014 60212015 TG - 19/16(0.46) 738 35 het unknown deletion chr18 rs143702074 0.26 0.188742 0.2304 intronic ZCCHC2 Reference - - - - - - - - ZCCHC2 chr18 61231144 61231148 AAAAT - 11/4(0.27) 118 15 het unknown deletion chr18 rs55994244 0.44 - 0.2353 intronic SERPINB12 Reference - - - - - - - - SERPINB12 chr18 61254525 61254525 - T 30/25(0.45) 581 55 het unknown insertion chr18 rs3216123 0.45 - 0.3333 upstream SERPINB13 Reference - - - - - - - - SERPINB13 chr18 61326628 61326628 - T 0/90(1.00) 3070 90 hom unknown insertion chr18 rs11370831 - - 0.3725 intronic SERPINB3 Reference - - - - - - - - SERPINB3 chr18 61569820 61569834 TTAAGTTTCTGGGGC - 36/13(0.27) 538 49 het unknown deletion chr18 rs200726702 - 0.252837 0.2745 intronic SERPINB2 Reference - - - - - - - - SERPINB2 chr18 61569850 61569854 TGAGA - 18/13(0.42) 585 31 het unknown deletion chr18 rs3217292 0.45 0.278704 0.3088 intronic SERPINB2 Reference - - - - - - - - SERPINB2 chr18 61637364 61637364 - GCGGCG 14/15(0.52) 816 29 het unknown insertion chr18 - - - 0.1814 5-UTR SERPINB8 Reference - - - - - - - - SERPINB8 chr18 67068606 67068606 G - 33/9(0.21) 40 42 het unknown deletion chr18 rs33984456 - - 0.0368 intronic DOK6 Reference - - - - - - - - DOK6 chr18 67863850 67863850 - CTC 0/60(1.00) 3070 60 hom nonframeshift insertion chr18 rs74941514 - 0.954577 0.5760 exonic RTTN Reference - - - - - - - - RTTN,NM_173630,exon7,c.727_728insGAG,p.D243delinsGD chr18 70416367 70416367 - A 0/27(1.00) 919 27 hom unknown insertion chr18 - 0.42 0.741054 0.3211 intronic NETO1 Reference - - - - - - - - NETO1 chr18 71749154 71749154 - T 3/10(0.77) 376 13 het unknown insertion chr18 - 0.29 0.275292 0.2157 intronic FBXO15 Reference - - - - - - - - FBXO15 chr18 72186175 72186175 - C 1/88(0.99) 3070 89 hom unknown insertion chr18 rs5826329 0.91 0.707668 0.5466 intronic CNDP2 Reference - - - - - - - - CNDP2 chr18 72245660 72245660 - G 23/6(0.21) 250 29 het unknown insertion chr18 - 0.31 - 0.2843 intronic CNDP1 Reference - - - - - - - - CNDP1 chr18 73130706 73130706 T - 0/22(1.00) 528 22 hom unknown deletion chr18 rs33995140 - - 0.4240 intronic SMIM21 Reference - - - - - - - - SMIM21 chr18 74090958 74090958 G - 0/40(1.00) 1266 40 hom splicing deletion chr18 rs56087742 - 0.996267 0.5123 splicing ZNF516 Reference - - - - - - - - NM_014643,exon6,c.3112-1C>-) chr18 77160367 77160367 - GCCCCG 8/5(0.38) 216 13 het unknown insertion chr18 - - 0.447244 0.1765 5-UTR NFATC1 Reference - - - - - - - - NFATC1 chr18 77221452 77221452 - A 12/3(0.20) 104 15 het unknown insertion chr18 - - - 0.1887 intronic NFATC1 Reference - - - - - - - - NFATC1 chr18 77221456 77221456 T - 10/3(0.23) 61 13 het unknown deletion chr18 - - - 0.1397 intronic NFATC1 Reference - - - - - - - - NFATC1 chr18 77679512 77679512 A - 3/5(0.62) 212 8 het unknown deletion chr18 rs11344964 - - 0.3162 intronic PQLC1 Reference - - - - - - - - PQLC1 chr18 77694129 77694129 A - 2/35(0.95) 451 37 hom unknown deletion chr18 rs59936768 - - 0.2672 intronic PQLC1 Reference - - - - - - - - PQLC1 chr19 373619 373619 C - 8/9(0.53) 328 17 het unknown deletion chr19 rs3214576 0.47 - 0.3039 intronic THEG Reference - - - - - - - - THEG chr19 422070 422070 T - 7/4(0.36) 148 11 het unknown deletion chr19 - - - 0.0074 intronic SHC2 Reference - - - - - - - - SHC2 chr19 422075 422075 - TT 6/4(0.40) 182 10 het unknown insertion chr19 - - - 0.0515 intronic SHC2 Reference - - - - - - - - SHC2 chr19 434971 434971 A - 11/11(0.50) 501 22 het unknown deletion chr19 rs66515471 0.18 - 0.2083 intronic SHC2 Reference - - - - - - - - SHC2 chr19 499426 499429 ACAC - 31/36(0.54) 1690 67 het unknown deletion chr19 rs67763556 - - 0.2623 intronic MADCAM1 Reference - - - - - - - - MADCAM1 chr19 536038 536038 - T 20/9(0.31) 439 29 het unknown insertion chr19 rs113716919 - - 0.2941 intronic CDC34 Reference - - - - - - - - CDC34 chr19 580164 580164 A - 7/4(0.36) 113 11 het unknown deletion chr19 rs5826703 0.72 - 0.3333 intronic BSG Reference - - - - - - - - BSG chr19 610175 610175 - CCT 5/3(0.38) 125 8 het unknown insertion chr19 - - - 0.0025 intronic HCN2 Reference - - - - - - - - HCN2 chr19 740582 740582 A - 8/4(0.33) 145 12 het unknown deletion chr19 rs139099272 0.38 - 0.2353 intronic PALM Reference - - - - - - - - PALM chr19 871728 871728 - A 8/6(0.43) 296 14 het unknown insertion chr19 - - - - intronic MED16 Reference - - - - - - - - MED16 chr19 876929 876929 A - 3/8(0.73) 369 11 het unknown deletion chr19 - - 0.086750 0.2721 intronic MED16 Reference - - - - - - - - MED16 chr19 966966 966966 - G 4/3(0.43) 128 7 het unknown insertion chr19 rs11446822 0.54 - 0.2966 intronic ARID3A Reference - - - - - - - - ARID3A chr19 1056019 1056019 C - 18/19(0.51) 476 37 het unknown deletion chr19 rs3833881 - 0.533168 0.3505 intronic ABCA7 Reference - - - - - - - - ABCA7 chr19 1068957 1068961 TTTAT - 1/4(0.80) 165 5 het unknown deletion chr19 rs141069749 - - 0.2647 intronic HMHA1 Reference - - - - - - - - HMHA1 chr19 1085399 1085400 AC - 3/3(0.50) 108 6 het unknown deletion chr19 - - - 0.0221 intronic HMHA1 Reference - - - - - - - - HMHA1 chr19 1085857 1085857 - GGACGA 62/61(0.50) 3070 123 het nonframeshift insertion chr19 - - - 0.0490 exonic HMHA1 Reference - - - - - - - - HMHA1,NM_001282335,exon22,c.2912_2913insGGACGA,p.G971delinsGDE;HMHA1,NM_001282334,exon13,c.2168_2169insGGACGA,p.G723delinsGDE;HMHA1,NM_001258328,exon23,c.3311_3312insGGACGA,p.G1104delinsGDE;HMHA1,NM_012292,exon23,c.3263_3264insGGACGA,p.G1088delinsGDE chr19 1093876 1093876 G - 9/9(0.50) 325 18 het unknown deletion chr19 - - - 0.0025 intronic POLR2E Reference - - - - - - - - POLR2E chr19 1257516 1257516 - TCCTCC 1/7(0.88) 377 8 het unknown insertion chr19 - - - 0.2426 3-UTR MIDN Reference - - - - - - - - MIDN chr19 1270232 1270232 C - 0/13(1.00) 253 13 hom unknown deletion chr19 rs56378951 - - 0.4730 ncRNA_exonic CIRBP-AS1 Reference - - - - - - - - CIRBP-AS1 chr19 1455829 1455829 A - 6/3(0.33) 99 9 het unknown deletion chr19 - - - - intronic APC2 Reference - - - - - - - - APC2 chr19 1506711 1506711 C - 6/5(0.45) 128 11 het unknown deletion chr19 rs3215149 0.37 0.321143 0.3382 intronic ADAMTSL5 Reference - - - - - - - - ADAMTSL5 chr19 1528149 1528149 - GGCGTGGGGTCCCT 17/8(0.32) 380 25 het unknown insertion chr19 rs139924905 0.73 - 0.3235 intronic PLK5 Reference - - - - - - - - PLK5 chr19 1535194 1535196 CCC - 32/29(0.48) 941 61 het nonframeshift deletion chr19 rs58035688 0.62 - 0.4265 exonic PLK5 Reference - - - - - - - - PLK5,NM_001243079,exon14,c.956_958del,p.319_320del chr19 1808227 1808229 GAT - 46/41(0.47) 1918 87 het nonframeshift deletion chr19 rs141216755 - - 0.0074 exonic ATP8B3 Reference - - - - - - - - ATP8B3,NM_001178002,exon5,c.349_351del,p.117_117del;ATP8B3,NM_138813,exon5,c.508_510del,p.170_170del chr19 1817134 1817134 - CCAGATGGGG 0/12(1.00) 713 12 hom unknown insertion chr19 - - - 0.3725 intronic REXO1 Reference - - - - - - - - REXO1 chr19 1819235 1819236 CT - 2/3(0.60) 95 5 het unknown deletion chr19 rs113598561 0.27 - 0.2157 intronic REXO1 Reference - - - - - - - - REXO1 chr19 1825928 1825930 CTC - 23/25(0.52) 1196 48 het nonframeshift deletion chr19 rs149465929 0.39 0.241933 0.4338 exonic REXO1 Reference - - - - - - - - REXO1,NM_020695,exon3,c.1924_1926del,p.642_642del chr19 1954126 1954126 - A 1/98(0.99) 3070 99 hom unknown insertion chr19 rs34622118 0.53 - 0.4167 ncRNA_exonic CSNK1G2-AS1 Reference - - - - - - - - CSNK1G2-AS1 chr19 1979678 1979678 - C 25/16(0.39) 792 41 het unknown insertion chr19 - - - 0.0074 intronic CSNK1G2 Reference - - - - - - - - CSNK1G2 chr19 2271578 2271578 T - 0/55(1.00) 2414 55 hom unknown deletion chr19 rs28384674 0.89 0.725954 0.4853 intronic OAZ1 Reference - - - - - - - - OAZ1 chr19 2340154 2340154 - C 0/24(1.00) 1392 24 hom unknown insertion chr19 rs5826760 - 0.999752 0.4926 exonic SPPL2B Reference - - - - - - - - SPPL2B chr19 2341094 2341101 CTCCCTGG - 38/31(0.45) 1465 69 het unknown deletion chr19 rs76166147 0.15 - 0.1887 intronic SPPL2B Reference - - - - - - - - SPPL2B chr19 2341103 2341103 G - 35/31(0.47) 1205 66 het unknown deletion chr19 rs202164106 0.12 - 0.1961 intronic SPPL2B Reference - - - - - - - - SPPL2B chr19 2418278 2418278 - CC 8/5(0.38) 236 13 het unknown insertion chr19 - - - 0.0368 intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418279 2418279 - TC 8/5(0.38) 236 13 het unknown insertion chr19 - - - 0.0368 intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418285 2418285 - T 9/8(0.47) 412 17 het unknown insertion chr19 - - - 0.0441 intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418296 2418299 TCCC - 9/3(0.25) 90 12 het unknown deletion chr19 - - - 0.0490 intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418311 2418327 CCCTCCCTCCCTCCCTC - 3/3(0.50) 97 6 het unknown deletion chr19 - - - 0.0025 intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418310 2418327 TCCCTCCCTCCCTCCCTC TCCCTCCCTCCCTTC het unknown substitution chr19 - - - - intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418331 2418331 - C 4/4(0.50) 188 8 het unknown insertion chr19 - - - - intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2418334 2418335 CT - 4/4(0.50) 157 8 het unknown deletion chr19 - - - - intronic TMPRSS9 Reference - - - - - - - - TMPRSS9 chr19 2427205 2427205 T - 7/8(0.53) 357 15 het unknown deletion chr19 rs113881095 0.37 - 0.2819 intronic TIMM13 Reference - - - - - - - - TIMM13 chr19 2901115 2901124 GCCGAAGTCT - 28/12(0.30) 506 40 het unknown deletion chr19 rs11279103 0.75 - 0.4167 intronic ZNF57 Reference - - - - - - - - ZNF57 chr19 3006236 3006236 - AT 0/27(1.00) 1657 27 hom unknown insertion chr19 rs3050847 - - 0.3848 intronic TLE2 Reference - - - - - - - - TLE2 chr19 3203865 3203865 G - 20/11(0.35) 309 31 het unknown deletion chr19 rs34189053 0.01 0.020757 0.0025 intronic NCLN Reference - - - - - - - - NCLN chr19 3433695 3433695 C - 0/14(1.00) 509 14 hom unknown deletion chr19 rs3833877 0.61 - 0.3922 intronic NFIC Reference - - - - - - - - NFIC chr19 3545147 3545147 - TGTCTCCCCTTCCC 3/3(0.50) 131 6 het unknown insertion chr19 - - - 0.0049 intronic MFSD12 Reference - - - - - - - - MFSD12 chr19 3576315 3576317 CTT - 30/36(0.55) 1709 66 het unknown deletion chr19 rs35766767 0.84 0.263109 0.4755 intronic HMG20B Reference - - - - - - - - HMG20B chr19 3638752 3638755 GTGG - 2/7(0.78) 319 9 het unknown deletion chr19 rs145075999 0.28 - 0.2525 intronic PIP5K1C Reference - - - - - - - - PIP5K1C chr19 3750205 3750205 - GG 60/40(0.40) 1710 100 het unknown insertion chr19 rs199584341 - 0.460064 0.4167 intronic TJP3 Reference - - - - - - - - TJP3 chr19 3772028 3772028 - G 6/11(0.65) 212 17 het unknown insertion chr19 - - - 0.0074 intronic RAX2 Reference - - - - - - - - RAX2 chr19 3819298 3819298 - GGGCAGGT 1/4(0.80) 197 5 het unknown insertion chr19 rs71307197 0.41 - 0.2475 intronic ZFR2 Reference - - - - - - - - ZFR2 chr19 3820781 3820781 - GACAGAGGGACACCAGGA 5/24(0.83) 1303 29 het unknown insertion chr19 - - - 0.0735 intronic ZFR2 Reference - - - - - - - - ZFR2 chr19 3908654 3908654 - C 3/2(0.40) 48 5 het unknown insertion chr19 rs150106999 0.11 - 0.1691 intronic ATCAY Reference - - - - - - - - ATCAY chr19 3978256 3978256 - GGC 9/11(0.55) 593 20 het unknown insertion chr19 rs200284152 0.02 - 0.0196 intronic EEF2 Reference - - - - - - - - EEF2 chr19 4331941 4331944 AAAG - 19/10(0.34) 426 29 het unknown deletion chr19 rs145454096 0.59 - 0.4020 intronic STAP2 Reference - - - - - - - - STAP2 chr19 4338587 4338590 AGAG - 2/5(0.71) 215 7 het unknown deletion chr19 rs3834985 0.55 - 0.3554 intronic STAP2 Reference - - - - - - - - STAP2 chr19 4442168 4442168 - C 7/5(0.42) 125 12 het unknown insertion chr19 rs200923552 0.02 - 0.0319 intronic CHAF1A Reference - - - - - - - - CHAF1A chr19 4492338 4492339 TG - 1/4(0.80) 166 5 het unknown deletion chr19 rs138550366 - - 0.2157 intronic HDGFRP2 Reference - - - - - - - - HDGFRP2 chr19 4493980 4493982 GGA - 26/34(0.57) 1656 60 het nonframeshift deletion chr19 - - - 0.0245 exonic HDGFRP2 Reference - - - - - - - - HDGFRP2,NM_001001520,exon8,c.840_842del,p.280_281del;HDGFRP2,NM_032631,exon8,c.840_842del,p.280_281del chr19 4499633 4499647 AGCTGGCCGGGGAGG - 0/25(1.00) 1338 25 hom frameshift deletion chr19 rs72100503 0.99 0.967614 0.4510 exonic HDGFRP2 Reference - - - - - - - - HDGFRP2,NM_001001520,exon14,c.1721_1722del,p.574_574del;HDGFRP2,NM_032631,exon14,c.1721_1722del,p.574_574del chr19 4510389 4510389 C - 12/17(0.59) 691 29 het unknown deletion chr19 rs56906779 0.40 - 0.0098 intronic PLIN4 Reference - - - - - - - - PLIN4 chr19 4844666 4844666 C - 6/9(0.60) 300 15 het unknown deletion chr19 rs36066928 0.55 0.785863 0.3627 intronic PLIN3 Reference - - - - - - - - PLIN3 chr19 4954679 4954679 - C 0/33(1.00) 2035 33 hom unknown insertion chr19 rs78623648 0.99 0.999461 0.4436 exonic UHRF1 Reference - - - - - - - - UHRF1 chr19 5208515 5208515 G - 16/7(0.30) 217 23 het unknown deletion chr19 rs139873720 0.07 - 0.0956 intronic PTPRS Reference - - - - - - - - PTPRS chr19 5239175 5239175 - GA 1/6(0.86) 317 7 het unknown insertion chr19 - - - 0.2917 intronic PTPRS Reference - - - - - - - - PTPRS chr19 5260880 5260880 T - 0/51(1.00) 2324 51 hom unknown deletion chr19 rs10708972 0.78 0.624825 0.4216 intronic PTPRS Reference - - - - - - - - PTPRS chr19 5824421 5824422 GT - 15/9(0.38) 368 24 het unknown deletion chr19 rs71934499 0.55 - 0.3824 intronic NRTN Reference - - - - - - - - NRTN chr19 5824438 5824438 - T 11/5(0.31) 110 16 het unknown insertion chr19 rs202092499 0.45 - 0.3064 intronic NRTN Reference - - - - - - - - NRTN chr19 6190810 6190811 AT - 3/6(0.67) 237 9 het unknown deletion chr19 rs72157010 - - 0.2990 intronic ACSBG2 Reference - - - - - - - - ACSBG2 chr19 6361845 6361845 - C 0/28(1.00) 1369 28 hom unknown insertion chr19 rs113825174 - 0.997437 0.3480 intronic CLPP Reference - - - - - - - - CLPP chr19 6426272 6426277 CAGCCT - 5/3(0.38) 102 8 het unknown deletion chr19 rs66673060 - - 0.2990 3-UTR SLC25A41 Reference - - - - - - - - SLC25A41 chr19 6469042 6469042 - T 14/10(0.42) 45 24 het unknown insertion chr19 - - - 0.0833 intronic DENND1C Reference - - - - - - - - DENND1C chr19 6586474 6586474 G - 1/4(0.80) 106 5 het unknown deletion chr19 rs3837945 0.08 - 0.1127 intronic CD70 Reference - - - - - - - - CD70 chr19 6589945 6589948 TCTC - 0/18(1.00) 951 18 hom unknown deletion chr19 rs3055535 0.70 - 0.3431 intronic CD70 Reference - - - - - - - - CD70 chr19 6708107 6708107 - TCTC 0/25(1.00) 1531 25 hom unknown insertion chr19 rs10659507 - - 0.4069 intronic C3 Reference - - - - - - - - C3 chr19 6708145 6708148 CTCT - 0/14(1.00) 671 14 hom unknown deletion chr19 rs10572042 0.79 - 0.3260 intronic C3 Reference - - - - - - - - C3 chr19 6710585 6710586 GA - 0/27(1.00) 1436 27 hom unknown deletion chr19 rs112132860 - - 0.4118 intronic C3 Reference - - - - - - - - C3 chr19 6751030 6751030 T - 1/7(0.88) 235 8 het unknown deletion chr19 rs145723501 0.30 0.215108 0.2426 intronic TRIP10 Reference - - - - - - - - TRIP10 chr19 6832664 6832664 - TCC 1/10(0.91) 555 11 het unknown insertion chr19 rs151222361 - - 0.1544 intronic VAV1 Reference - - - - - - - - VAV1 chr19 6908675 6908675 - T 26/18(0.41) 142 44 het unknown insertion chr19 - - - 0.3284 intronic EMR1 Reference - - - - - - - - EMR1 chr19 6921697 6921697 - T 12/15(0.56) 413 27 het unknown insertion chr19 - 0.16 0.210396 0.1863 intronic EMR1 Reference - - - - - - - - EMR1 chr19 6935121 6935121 - AA 57/39(0.41) 2002 96 het unknown insertion chr19 rs1160969 - 0.723722 0.3922 intronic EMR1 Reference - - - - - - - - EMR1 chr19 7122512 7122512 T - 0/12(1.00) 620 12 hom unknown deletion chr19 rs34073323 0.50 - 0.3015 intronic INSR Reference - - - - - - - - INSR chr19 7507011 7507038 CCTTCCTTCCTTCCTTCCTTCCTTCCTT - 10/3(0.23) 67 13 het unknown deletion chr19 rs200202576 - - 0.0221 intronic ARHGEF18 Reference - - - - - - - - ARHGEF18 chr19 7515670 7515670 C - 4/3(0.43) 102 7 het unknown deletion chr19 - - - 0.0123 intronic ARHGEF18 Reference - - - - - - - - ARHGEF18 chr19 7515874 7515874 C - 13/4(0.24) 130 17 het unknown deletion chr19 - - - 0.0392 intronic ARHGEF18 Reference - - - - - - - - ARHGEF18 chr19 7518268 7518268 - C 9/4(0.31) 160 13 het unknown insertion chr19 rs11463454 - - 0.4412 intronic ARHGEF18 Reference - - - - - - - - ARHGEF18 chr19 7568966 7568966 - TCTCTCTC 13/4(0.24) 159 17 het unknown insertion chr19 - - - 0.1863 intronic C19orf45 Reference - - - - - - - - C19orf45 chr19 7697886 7697887 GA - 12/5(0.29) 185 17 het unknown deletion chr19 rs78473084 0.22 - 0.2010 5-UTR PCP2 Reference - - - - - - - - PCP2 chr19 7698226 7698226 - TAAT 20/24(0.55) 1339 44 het unknown insertion chr19 rs151032321 0.20 0.328804 0.2206 intronic PCP2 Reference - - - - - - - - PCP2 chr19 7704816 7704825 ATGTGTGTGC - 5/4(0.44) 154 9 het unknown deletion chr19 rs138165596 - - 0.1765 intronic STXBP2 Reference - - - - - - - - STXBP2 chr19 7705440 7705440 - TG 8/10(0.56) 536 18 het unknown insertion chr19 rs148185188 0.47 - 0.3676 intronic STXBP2 Reference - - - - - - - - STXBP2 chr19 7710787 7710787 C - 0/15(1.00) 560 15 hom unknown deletion chr19 rs3837933 0.72 - 0.3015 intronic STXBP2 Reference - - - - - - - - STXBP2 chr19 7735319 7735327 GATGATGAT - 1/5(0.83) 217 6 het unknown deletion chr19 rs112669651 - - 0.3750 3-UTR RETN Reference - - - - - - - - RETN chr19 7742336 7742337 TG - 1/8(0.89) 372 9 het unknown deletion chr19 rs146580993 0.16 - 0.1520 intronic C19orf59 Reference - - - - - - - - C19orf59 chr19 7764364 7764368 TTTTT - 1/29(0.97) 229 30 hom unknown deletion chr19 rs79496066 - - 0.2917 5-UTR FCER2 Reference - - - - - - - - FCER2 chr19 7764545 7764545 - C 0/27(1.00) 1342 27 hom unknown insertion chr19 rs79777095 0.86 0.612141 0.4314 intronic FCER2 Reference - - - - - - - - FCER2 chr19 7854460 7854460 G - 13/11(0.46) 379 24 het unknown deletion chr19 rs148548210 0.08 - 0.0882 ncRNA_exonic CLEC4GP1 Reference - - - - - - - - CLEC4GP1 chr19 7944349 7944349 C - 0/70(1.00) 3070 70 hom unknown deletion chr19 rs56796931 - - 0.4926 ncRNA_exonic LOC388499 Reference - - - - - - - - LOC388499 chr19 8137850 8137850 - GT 2/7(0.78) 373 9 het unknown insertion chr19 - - - 0.0441 intronic FBN3 Reference - - - - - - - - FBN3 chr19 8321328 8321328 - CT 11/7(0.39) 346 18 het unknown insertion chr19 rs79669714 - - 0.3333 intronic CERS4 Reference - - - - - - - - CERS4 chr19 8369079 8369079 A - 10/9(0.47) 200 19 het unknown deletion chr19 rs3214909 0.09 - 0.0735 intronic CD320 Reference - - - - - - - - CD320 chr19 8389769 8389780 TCACAGGTTGAC - 52/47(0.47) 2258 99 het unknown deletion chr19 rs111756439 0.28 - 0.2843 intronic KANK3 Reference - - - - - - - - KANK3 chr19 8398950 8398961 TCGCTGTCGCCA - 13/3(0.19) 80 16 het nonframeshift deletion chr19 rs111751275 0.23 0.220795 0.3235 exonic KANK3 Reference - - - - - - - - KANK3,NM_198471,exon5,c.1467_1478del,p.489_493del chr19 8564414 8564418 TTGGG - 13/4(0.24) 131 17 het frameshift deletion chr19 - - - - exonic PRAM1 Reference - - - - - - - - PRAM1,NM_032152,exon2,c.274_278del,p.92_93del chr19 8564428 8564428 - C 12/4(0.25) 164 16 het frameshift insertion chr19 - - - - exonic PRAM1 Reference - - - - - - - - PRAM1,NM_032152,exon2,c.263_264insG,p.V88fs chr19 8564430 8564430 - CAAA 14/4(0.22) 157 18 het frameshift insertion chr19 - - - - exonic PRAM1 Reference - - - - - - - - PRAM1,NM_032152,exon2,c.261_262insTTTG,p.V88fs chr19 8649943 8649943 - AGGGGGC 4/5(0.56) 217 9 het unknown insertion chr19 rs138501563 0.12 0.096358 0.1103 intronic ADAMTS10 Reference - - - - - - - - ADAMTS10 chr19 8657074 8657074 - AG 9/5(0.36) 233 14 het unknown insertion chr19 rs35484313 0.12 - 0.1495 5-UTR ADAMTS10 Reference - - - - - - - - ADAMTS10 chr19 9000064 9000064 - T 4/4(0.50) 188 8 het unknown insertion chr19 - 0.67 - 0.3971 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9003218 9003218 A - 17/10(0.37) 76 27 het unknown deletion chr19 rs60430468 - - 0.2598 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9015049 9015049 - C 2/4(0.67) 194 6 het unknown insertion chr19 rs201949050 0.01 - 0.0074 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9080327 9080329 AAG - 12/3(0.20) 81 15 het unknown deletion chr19 - - - - intronic MUC16 Reference - - - - - - - - MUC16 chr19 9080337 9080339 GGG - 14/4(0.22) 85 18 het unknown deletion chr19 - - - 0.0074 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9080343 9080343 G - 1/4(0.80) 121 5 het unknown deletion chr19 - - - 0.0074 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9080344 9080353 AAAGAAAAGA - 1/12(0.92) 533 13 het unknown deletion chr19 - - - 0.0931 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9080350 9080352 AAG - 2/6(0.75) 217 8 het unknown deletion chr19 - - - 0.0074 intronic MUC16 Reference - - - - - - - - MUC16 chr19 9236698 9236698 - ATGGT 2/3(0.60) 134 5 het frameshift insertion chr19 rs111867493 0.35 0.415482 0.3333 exonic OR7G3 Reference - - - - - - - - OR7G3,NM_001001958,exon1,c.928_929insACCAT,p.S310fs chr19 9237720 9237727 CTTTCTTC - 11/14(0.56) 598 25 het unknown deletion chr19 rs151331809 - - 0.1569 upstream OR7G3 Reference - - - - - - - - OR7G3 chr19 9237919 9237920 TT - 4/3(0.43) 73 7 het unknown deletion chr19 rs147379573 0.34 - 0.1936 upstream OR7G3 Reference - - - - - - - - OR7G3 chr19 9452027 9452028 CT - 14/15(0.52) 701 29 het unknown deletion chr19 rs55837495 0.42 - 0.3162 intronic ZNF559;ZNF559-ZNF177 Reference - - - - - - - - ZNF559;ZNF559-ZNF177 chr19 10131849 10131849 - T 7/12(0.63) 566 19 het unknown insertion chr19 - 0.59 - 0.2402 intronic RDH8 Reference - - - - - - - - RDH8 chr19 10131866 10131866 - T 13/4(0.24) 172 17 het unknown insertion chr19 - - - 0.0025 intronic RDH8 Reference - - - - - - - - RDH8 chr19 10197488 10197488 - C 5/4(0.44) 185 9 het unknown insertion chr19 rs139505689 0.31 - 0.2574 intronic C19orf66 Reference - - - - - - - - C19orf66 chr19 10270748 10270748 A - 1/30(0.97) 362 31 het unknown deletion chr19 - - - - intronic DNMT1 Reference - - - - - - - - DNMT1 chr19 10270747 10270748 AA - 1/30(0.97) 362 31 het unknown deletion chr19 rs59599980 - - 0.1838 intronic DNMT1 Reference - - - - - - - - DNMT1 chr19 10273317 10273317 G - 15/12(0.44) 478 27 het unknown deletion chr19 rs138046974 - - 0.0049 intronic DNMT1 Reference - - - - - - - - DNMT1 chr19 10273321 10273321 G - 30/9(0.23) 335 39 het unknown deletion chr19 - - - - intronic DNMT1 Reference - - - - - - - - DNMT1 chr19 10405906 10405906 - T 4/8(0.67) 428 12 het unknown insertion chr19 rs34124276 0.25 - 0.2500 intronic ICAM5 Reference - - - - - - - - ICAM5 chr19 10431300 10431300 - G 23/16(0.41) 663 39 het unknown insertion chr19 rs34942709 0.21 0.149931 0.2132 intronic RAVER1 Reference - - - - - - - - RAVER1 chr19 10665912 10665912 - CCGCCCTGCCCGCAGCGCACCTGGCT 0/27(1.00) 1599 27 hom unknown insertion chr19 rs6146467 - - 0.2328 intronic KRI1 Reference - - - - - - - - KRI1 chr19 10676487 10676487 - CC 18/6(0.25) 56 24 het unknown insertion chr19 - - - 0.1299 intronic KRI1 Reference - - - - - - - - KRI1 chr19 10679068 10679070 AGA - 8/16(0.67) 771 24 het unknown deletion chr19 rs33926515 0.29 - 0.3039 intronic CDKN2D Reference - - - - - - - - CDKN2D chr19 11018854 11018854 C - 12/12(0.50) 323 24 het unknown deletion chr19 - - - 0.0098 intronic CARM1 Reference - - - - - - - - CARM1 chr19 11230651 11230654 AAAC - 7/13(0.65) 617 20 het unknown deletion chr19 rs145643854 - - 0.3456 intronic LDLR Reference - - - - - - - - LDLR chr19 11303460 11303460 C - 6/23(0.79) 261 29 het unknown deletion chr19 rs35706290 - - 0.4510 intronic KANK2 Reference - - - - - - - - KANK2 chr19 11314808 11314820 TGGGGATGAGGAG - 1/7(0.88) 308 8 het unknown deletion chr19 rs3217390 0.47 0.541208 0.2819 intronic DOCK6 Reference - - - - - - - - DOCK6 chr19 11319240 11319242 CCA - 14/24(0.63) 1170 38 het unknown deletion chr19 rs147251964 0.12 - 0.1250 intronic DOCK6 Reference - - - - - - - - DOCK6 chr19 11436302 11436302 - G 0/38(1.00) 2104 38 hom unknown insertion chr19 - - - 0.5098 intronic RAB3D;TSPAN16 Reference - - - - - - - - RAB3D;TSPAN16 chr19 12662318 12662318 - C 1/56(0.98) 2848 57 hom unknown insertion chr19 rs79749579 - - 0.4314 5-UTR ZNF564 Reference - - - - - - - - ZNF564 chr19 12976482 12976484 AAC - 35/30(0.46) 1406 65 het unknown deletion chr19 rs150724539 0.63 - 0.4069 intronic MAST1 Reference - - - - - - - - MAST1 chr19 13260240 13260240 - AAG 5/8(0.62) 375 13 het unknown insertion chr19 - - - 0.1961 intronic STX10 Reference - - - - - - - - STX10 chr19 13318983 13318988 GGAGGG - 1/3(0.75) 120 4 het unknown deletion chr19 rs148672975 0.33 - 0.0319 intronic CACNA1A Reference - - - - - - - - CACNA1A chr19 13323642 13323643 AC - 1/2(0.67) 44 3 het unknown deletion chr19 rs61178346 - - 0.0245 intronic CACNA1A Reference - - - - - - - - CACNA1A chr19 14091543 14091543 - GCATCCTCTCTGGGGTGGGCTC 0/29(1.00) 1466 29 hom unknown insertion chr19 rs146048336 - 0.698420 0.2745 intronic RFX1 Reference - - - - - - - - RFX1 chr19 14094263 14094263 - GC 11/2(0.15) 69 13 het unknown insertion chr19 - - - - intronic RFX1 Reference - - - - - - - - RFX1 chr19 14156841 14156844 AAAC - 4/4(0.50) 157 8 het unknown deletion chr19 rs149367806 - - 0.2941 intronic IL27RA Reference - - - - - - - - IL27RA chr19 14184713 14184713 - G 0/45(1.00) 2500 45 hom unknown insertion chr19 rs35666756 0.38 - 0.3554 ncRNA_intronic LOC113230 Reference - - - - - - - - LOC113230 chr19 14294289 14294289 C - 0/35(1.00) 983 35 hom unknown deletion chr19 rs61051191 - - 0.4191 intronic LPHN1 Reference - - - - - - - - LPHN1 chr19 14522435 14522439 CCTTA - 54/42(0.44) 1993 96 het unknown deletion chr19 rs55968966 0.85 0.775150 0.4412 intronic DDX39A Reference - - - - - - - - DDX39A chr19 14581757 14581775 GCCTCAAGGGCCTCGTTGC - 0/16(1.00) 805 16 hom unknown deletion chr19 rs59891980 - - 0.3211 intronic PKN1 Reference - - - - - - - - PKN1 chr19 14736294 14736294 T - 40/33(0.45) 1215 73 het unknown deletion chr19 rs74560369 0.12 0.122364 0.1716 intronic EMR3 Reference - - - - - - - - EMR3 chr19 14740824 14740824 - G 0/16(1.00) 965 16 hom unknown insertion chr19 rs77548886 0.21 0.514217 0.2549 intronic EMR3 Reference - - - - - - - - EMR3 chr19 14857791 14857791 - A 14/15(0.52) 343 29 het unknown insertion chr19 rs34186967 0.27 0.310232 0.2525 intronic EMR2 Reference - - - - - - - - EMR2 chr19 14887349 14887356 GGGGTGTG - 5/9(0.64) 414 14 het unknown deletion chr19 rs149751809 - - 0.2672 intronic EMR2 Reference - - - - - - - - EMR2 chr19 15014161 15014161 - CT 19/12(0.39) 622 31 het unknown insertion chr19 rs35639269 0.65 - 0.4779 intergenic OR7A17;OR7C2 Reference - - - - - - - - OR7C2(dist=38140);OR7A17(dist=21994) chr19 15052983 15052983 - ATC 0/137(1.00) 3070 137 hom nonframeshift insertion chr19 rs201365691 - 0.988578 0.6814 exonic OR7C2 Reference - - - - - - - - OR7C2,NM_012377,exon1,c.683_684insATC,p.V228delinsVS chr19 15651556 15651556 - AGC 0/19(1.00) 1160 19 hom unknown insertion chr19 - - 0.203141 0.1838 intronic CYP4F22 Reference - - - - - - - - CYP4F22 chr19 15651563 15651563 G - 0/19(1.00) 1012 19 hom unknown deletion chr19 rs139932061 - 0.376949 0.1691 intronic CYP4F22 Reference - - - - - - - - CYP4F22 chr19 15661384 15661384 T - 0/38(1.00) 2056 38 hom unknown deletion chr19 rs35191310 0.26 - 0.2892 intronic CYP4F22 Reference - - - - - - - - CYP4F22 chr19 15730498 15730498 - C 0/64(1.00) 3070 64 hom unknown insertion chr19 rs55848814 - - 0.5392 exonic CYP4F8 Reference - - - - - - - - CYP4F8 chr19 15730745 15730747 TAA - 2/8(0.80) 371 10 het unknown deletion chr19 rs146148628 0.25 - 0.2353 intronic CYP4F8 Reference - - - - - - - - CYP4F8 chr19 15838754 15838754 G - 0/32(1.00) 1447 32 hom unknown deletion chr19 rs34728106 0.89 - 0.4730 upstream OR10H2 Reference - - - - - - - - OR10H2 chr19 15997136 15997136 - C 9/7(0.44) 133 16 het unknown insertion chr19 rs3093159 - - 0.3456 intronic CYP4F2 Reference - - - - - - - - CYP4F2 chr19 16040919 16040919 - T 1/3(0.75) 137 4 het unknown insertion chr19 - 0.37 - 0.2402 intronic CYP4F11 Reference - - - - - - - - CYP4F11 chr19 16136528 16136528 - CAGCACCTGGC 0/62(1.00) 3070 62 hom unknown insertion chr19 rs140634016 - - 0.3186 ncRNA_exonic LINC00661 Reference - - - - - - - - LINC00661 chr19 16186815 16186815 - CA 5/5(0.50) 245 10 het unknown insertion chr19 rs10633690 - 0.331242 0.3382 intronic TPM4 Reference - - - - - - - - TPM4 chr19 16268208 16268208 A - 0/170(1.00) 3070 170 hom splicing deletion chr19 rs5827321 - - 0.5417 splicing HSH2D Reference - - - - - - - - NM_032855,exon9,c.663-1A>-) chr19 16308786 16308786 - CGCTGCCGCCGCCACCGCCCTCGGC 1/4(0.80) 198 5 het unknown insertion chr19 - - 0.143813 0.0833 5-UTR AP1M1 Reference - - - - - - - - AP1M1 chr19 16336949 16336949 A - 1/5(0.83) 218 6 het unknown deletion chr19 rs11355767 0.74 - 0.2525 intronic AP1M1 Reference - - - - - - - - AP1M1 chr19 16336952 16336952 G - 2/5(0.71) 162 7 het unknown deletion chr19 rs11355766 0.74 - 0.2525 intronic AP1M1 Reference - - - - - - - - AP1M1 chr19 16539347 16539347 - AAGA 0/29(1.00) 1782 29 hom unknown insertion chr19 rs112212059 - - 0.3578 intronic EPS15L1 Reference - - - - - - - - EPS15L1 chr19 17011950 17011950 - C 2/59(0.97) 3070 61 hom unknown insertion chr19 rs77345177 - - 0.4093 intronic CPAMD8 Reference - - - - - - - - CPAMD8 chr19 17283383 17283383 - G 0/11(1.00) 615 11 hom unknown insertion chr19 rs11463235 - - 0.4853 intronic MYO9B Reference - - - - - - - - MYO9B chr19 17315973 17315973 - AG 4/4(0.50) 141 8 het unknown insertion chr19 - - - 0.0294 intronic MYO9B Reference - - - - - - - - MYO9B chr19 17329935 17329935 - A 11/11(0.50) 49 22 het unknown insertion chr19 rs71334688 - - 0.1765 intronic USE1 Reference - - - - - - - - USE1 chr19 17366111 17366111 A - 1/29(0.97) 511 30 hom unknown deletion chr19 rs35026554 - - 0.4485 intronic USHBP1 Reference - - - - - - - - USHBP1 chr19 17397456 17397456 - GT 1/2(0.67) 45 3 het frameshift insertion chr19 rs35771129 - - - exonic ANKLE1 Reference - - - - - - - - ANKLE1,NM_001278444,exon8,c.1888_1889insGT,p.G630fs chr19 17471723 17471723 C - 10/9(0.47) 387 19 het unknown deletion chr19 - - - - intronic PLVAP Reference - - - - - - - - PLVAP chr19 17514646 17514646 - GGG 0/62(1.00) 3070 62 hom unknown insertion chr19 rs113321277 0.64 0.955751 0.3775 intronic BST2 Reference - - - - - - - - BST2 chr19 17516400 17516400 - GCTGAAAG 0/47(1.00) 2917 47 hom unknown insertion chr19 rs111617488 - 0.950169 0.4510 5-UTR BST2 Reference - - - - - - - - BST2 chr19 17535868 17535893 CTCACTGCATCCTGGGGCCACCCCCA - 8/4(0.33) 121 12 het unknown deletion chr19 rs201974585 0.22 0.076535 0.1765 3-UTR MVB12A Reference - - - - - - - - MVB12A chr19 17649556 17649559 AGAA - 11/6(0.35) 238 17 het unknown deletion chr19 rs112330347 - - 0.1373 intronic FAM129C Reference - - - - - - - - FAM129C chr19 18170265 18170265 - C 0/13(1.00) 548 13 hom unknown insertion chr19 rs3833286 0.38 - 0.2745 downstream IL12RB1 Reference - - - - - - - - IL12RB1 chr19 18172043 18172043 - TT 4/8(0.67) 42 12 het unknown insertion chr19 - - - - intronic IL12RB1 Reference - - - - - - - - IL12RB1 chr19 18186824 18186824 - T 21/13(0.38) 676 34 het unknown insertion chr19 rs17885316 0.25 - 0.2574 intronic IL12RB1 Reference - - - - - - - - IL12RB1 chr19 18233283 18233283 - G 6/9(0.60) 235 15 het unknown insertion chr19 rs140584849 - - 0.3701 intronic MAST3 Reference - - - - - - - - MAST3 chr19 18246298 18246299 AT - 2/6(0.75) 267 8 het unknown deletion chr19 rs199541263 0.04 - 0.0490 intronic MAST3 Reference - - - - - - - - MAST3 chr19 18256419 18256419 C - 0/12(1.00) 440 12 hom unknown deletion chr19 rs11305984 0.97 - 0.4069 intronic MAST3 Reference - - - - - - - - MAST3 chr19 18331358 18331358 C - 12/14(0.54) 345 26 het unknown deletion chr19 rs5827400 - 0.572296 0.2426 intronic PDE4C Reference - - - - - - - - PDE4C chr19 18344274 18344274 C - 13/17(0.57) 311 30 het unknown deletion chr19 rs35421958 - - 0.3627 intronic PDE4C Reference - - - - - - - - PDE4C chr19 18541579 18541579 - A 0/29(1.00) 1783 29 hom unknown insertion chr19 rs11395316 - - 0.4412 intronic SSBP4 Reference - - - - - - - - SSBP4 chr19 18544285 18544298 GGCGGGGGCGCGTC - 2/5(0.71) 214 7 het unknown deletion chr19 rs151008041 0.17 - 0.0858 intronic SSBP4 Reference - - - - - - - - SSBP4 chr19 18544677 18544677 - C 0/13(1.00) 776 13 hom unknown insertion chr19 rs78783575 0.98 0.984444 0.2475 intronic SSBP4 Reference - - - - - - - - SSBP4 chr19 18546030 18546030 G - 0/23(1.00) 803 23 hom unknown deletion chr19 rs35926638 0.24 - 0.2892 intronic ISYNA1 Reference - - - - - - - - ISYNA1 chr19 18675854 18675854 - GGC 31/23(0.43) 1245 54 het unknown insertion chr19 rs10692700 - 0.646086 0.4657 intronic KXD1 Reference - - - - - - - - KXD1 chr19 18684799 18684800 AA - 1/3(0.75) 69 4 het unknown deletion chr19 rs77336738 - - 0.2941 intronic UBA52 Reference - - - - - - - - UBA52 chr19 18897526 18897526 - G 0/30(1.00) 1834 30 hom unknown insertion chr19 - - - 0.5049 intronic COMP Reference - - - - - - - - COMP chr19 18898682 18898703 TCTTTCTTTCTTTCTTTCTTTC - 0/12(1.00) 620 12 hom unknown deletion chr19 - - - - intronic COMP Reference - - - - - - - - COMP chr19 19215612 19215612 - A 0/11(1.00) 650 11 hom unknown insertion chr19 rs56247515 0.89 - 0.4387 intronic SLC25A42 Reference - - - - - - - - SLC25A42 chr19 19312732 19312733 TC - 51/45(0.47) 2157 96 het unknown deletion chr19 - - - - 3-UTR NR2C2AP Reference - - - - - - - - NR2C2AP chr19 19779641 19779641 - C 16/15(0.48) 470 31 het unknown insertion chr19 - - - - upstream ZNF101 Reference - - - - - - - - ZNF101 chr19 19788539 19788539 - AGAG 0/12(1.00) 712 12 hom unknown insertion chr19 rs138951574 0.65 - 0.4510 intronic ZNF101 Reference - - - - - - - - ZNF101 chr19 19989125 19989125 G - 1/2(0.67) 44 3 het unknown deletion chr19 rs3841054 0.63 - 0.3088 intronic ZNF253 Reference - - - - - - - - ZNF253 chr19 20003794 20003794 - TTT 6/6(0.50) 99 12 het unknown insertion chr19 rs113882364 - - 0.3039 3-UTR ZNF253 Reference - - - - - - - - ZNF253 chr19 20807177 20807177 - A 0/19(1.00) 1154 19 hom frameshift insertion chr19 rs35575803 0.76 - 0.4534 exonic ZNF626 Reference - - - - - - - - ZNF626,NM_001076675,exon4,c.1505dupT,p.I502fs chr19 20828410 20828410 - AAG 1/71(0.99) 3070 72 hom unknown insertion chr19 rs34679916 - - 0.3725 intronic ZNF626 Reference - - - - - - - - ZNF626 chr19 21116764 21116767 TGTG - 14/8(0.36) 362 22 het unknown deletion chr19 rs145021272 - - 0.1593 intronic ZNF85 Reference - - - - - - - - ZNF85 chr19 21299774 21299774 - ATA 0/77(1.00) 3070 77 hom nonframeshift insertion chr19 rs36125838 - 0.860598 0.5613 exonic ZNF714 Reference - - - - - - - - ZNF714,NM_182515,exon5,c.304_305insATA,p.Y102delinsYN chr19 21558015 21558015 - TG 9/72(0.89) 3070 81 het unknown insertion chr19 - - - 0.4265 ncRNA_intronic ZNF738 Reference - - - - - - - - ZNF738 chr19 21838113 21838113 - GAT 12/5(0.29) 223 17 het unknown insertion chr19 rs34320073 0.88 - 0.4093 intergenic ZNF429;ZNF100 Reference - - - - - - - - ZNF429(dist=117034);ZNF100(dist=68730) chr19 21909348 21909352 TTATC - 6/3(0.33) 99 9 het unknown deletion chr19 rs146886768 0.11 - 0.1152 3-UTR ZNF100 Reference - - - - - - - - ZNF100 chr19 22255796 22255796 - T 6/12(0.67) 169 18 het unknown insertion chr19 - - - 0.2034 intronic ZNF257 Reference - - - - - - - - ZNF257 chr19 22836874 22836874 A - 34/26(0.43) 239 60 het unknown deletion chr19 rs35837772 - - 0.1887 intronic ZNF492 Reference - - - - - - - - ZNF492 chr19 22940192 22940192 - G 12/18(0.60) 993 30 het frameshift insertion chr19 rs200518184 0.08 - 0.1397 exonic ZNF99 Reference - - - - - - - - ZNF99,NM_001080409,exon4,c.2518_2519insC,p.M840fs chr19 23545530 23545530 - A 19/13(0.41) 148 32 het unknown insertion chr19 - - - 0.1103 intronic ZNF91 Reference - - - - - - - - ZNF91 chr19 23845796 23845796 A - 1/60(0.98) 1129 61 hom unknown deletion chr19 rs61245955 - - 0.5000 intronic ZNF675 Reference - - - - - - - - ZNF675 chr19 23870081 23870095 CCTGACCCTTCAGGC - 0/10(1.00) 509 10 hom unknown deletion chr19 rs143093047 0.99 - 0.3701 upstream ZNF675 Reference - - - - - - - - ZNF675 chr19 23938360 23938360 - AC 4/6(0.60) 273 10 het unknown insertion chr19 - - - 0.0294 intronic ZNF681 Reference - - - - - - - - ZNF681 chr19 24184078 24184078 - TGCTGTTCACA 1/35(0.97) 2106 36 hom unknown insertion chr19 rs112948193 - - 0.1912 intergenic ZNF726;ZNF254 Reference - - - - - - - - ZNF726(dist=67309);ZNF254(dist=32129) chr19 30311543 30311543 T - 3/9(0.75) 80 12 het unknown deletion chr19 rs5827672 - - 0.0858 intronic CCNE1 Reference - - - - - - - - CCNE1 chr19 30500119 30500121 TGA - 4/162(0.98) 3070 166 hom nonframeshift deletion chr19 rs3840928 - - 0.5245 exonic URI1 Reference - - - - - - - - URI1,NM_003796,exon8,c.894_896del,p.298_299del;URI1,NM_001252641,exon8,c.840_842del,p.280_281del chr19 32930151 32930152 TA - 19/17(0.47) 791 36 het unknown deletion chr19 rs139900712 0.13 - 0.1225 intronic DPY19L3 Reference - - - - - - - - DPY19L3 chr19 33073087 33073087 T - 4/11(0.73) 166 15 het unknown deletion chr19 rs35500233 - - 0.1961 intronic PDCD5 Reference - - - - - - - - PDCD5 chr19 33133937 33133937 G - 14/8(0.36) 336 22 het unknown deletion chr19 rs3841621 0.27 - 0.2377 intronic ANKRD27 Reference - - - - - - - - ANKRD27 chr19 33150039 33150039 C - 12/4(0.25) 175 16 het unknown deletion chr19 - - - 0.0025 intronic ANKRD27 Reference - - - - - - - - ANKRD27 chr19 33321717 33321717 - GG 0/30(1.00) 1751 30 hom unknown insertion chr19 rs138839082 - - 0.3873 intronic SLC7A9 Reference - - - - - - - - SLC7A9 chr19 33444347 33444348 TA - 7/14(0.67) 670 21 het unknown deletion chr19 rs113629564 - - 0.1299 intronic CEP89 Reference - - - - - - - - CEP89 chr19 33620993 33620993 - CC 11/21(0.66) 1187 32 het unknown insertion chr19 rs35506888 0.58 0.537780 0.3824 intronic GPATCH1 Reference - - - - - - - - GPATCH1 chr19 33666158 33666158 - AAAC het unknown insertion chr19 - - - - intronic WDR88 Reference - - - - - - - - WDR88 chr19 33666155 33666158 AAAC - 0/3(1.00) 118 3 het unknown deletion chr19 rs139387848 - - 0.0956 intronic WDR88 Reference - - - - - - - - WDR88 chr19 33699664 33699664 - A 4/10(0.71) 483 14 het unknown insertion chr19 rs144074375 - - 0.3137 3-UTR LRP3;SLC7A10 Reference - - - - - - - - SLC7A10;LRP3 chr19 35213734 35213737 GTCT - 3/5(0.62) 212 8 het unknown deletion chr19 rs56917653 - - 0.2623 intergenic ZNF302;ZNF181 Reference - - - - - - - - ZNF181(dist=11743);ZNF302(dist=36432) chr19 35551225 35551225 - C 44/40(0.48) 1527 84 het unknown insertion chr19 - 0.13 0.132431 0.2475 ncRNA_intronic HPN-AS1 Reference - - - - - - - - HPN-AS1 chr19 35556716 35556716 T - 0/18(1.00) 951 18 hom unknown deletion chr19 rs3835126 0.84 - 0.4583 ncRNA_intronic HPN-AS1 Reference - - - - - - - - HPN-AS1 chr19 35614150 35614150 A - 3/5(0.62) 169 8 het unknown deletion chr19 rs141165293 - - 0.0074 intronic FXYD3 Reference - - - - - - - - FXYD3 chr19 35614253 35614253 - GT 13/13(0.50) 678 26 het unknown insertion chr19 - - - 0.2892 intronic FXYD3 Reference - - - - - - - - FXYD3 chr19 35758275 35758275 - GGA 26/21(0.45) 1141 47 het nonframeshift insertion chr19 rs142507475 0.37 0.679385 0.4069 exonic LSR Reference - - - - - - - - LSR,NM_015925,exon8,c.1495_1496insGGA,p.G499delinsGR;LSR,NM_001260489,exon8,c.1492_1493insGGA,p.G498delinsGR;LSR,NM_001260490,exon6,c.1228_1229insGGA,p.G410delinsGR;LSR,NM_205834,exon9,c.1552_1553insGGA,p.G518delinsGR;LSR,NM_205835,exon7,c.1348_1349insGGA,p.G450delinsGR chr19 35761963 35761963 - T 89/53(0.37) 1016 142 het unknown insertion chr19 - - - - intronic USF2 Reference - - - - - - - - USF2 chr19 36133983 36133983 G - 5/6(0.55) 184 11 het unknown deletion chr19 rs3214104 0.26 0.257264 0.2255 intronic ETV2 Reference - - - - - - - - ETV2 chr19 36135279 36135279 - T 0/16(1.00) 965 16 hom unknown insertion chr19 rs3835005 0.89 0.727360 0.4559 intronic ETV2 Reference - - - - - - - - ETV2 chr19 36214632 36214632 - G 0/33(1.00) 2035 33 hom splicing insertion chr19 rs75450951 - 0.999265 0.5098 splicing KMT2B Reference - - - - - - - - KMT2B(NM_014727,exon8,c.3059-1->G) chr19 36258938 36258938 G - 0/25(1.00) 1074 25 hom splicing deletion chr19 rs5827939 - - 0.5686 splicing C19orf55 Reference - - - - - - - - NM_001039887,exon10,c.1191-1G>-) chr19 36336163 36336163 - AG 1/3(0.75) 137 4 het unknown insertion chr19 rs143278868 - - 0.1054 intronic NPHS1 Reference - - - - - - - - NPHS1 chr19 36526282 36526284 ATA - 27/21(0.44) 976 48 het unknown deletion chr19 rs66987345 0.34 - 0.3235 3-UTR THAP8 Reference - - - - - - - - THAP8 chr19 36572279 36572279 - TCATTTTC 18/3(0.14) 83 21 het unknown insertion chr19 rs142105577 0.29 - 0.2696 intronic WDR62 Reference - - - - - - - - WDR62 chr19 36585112 36585113 AT - 11/10(0.48) 449 21 het unknown deletion chr19 rs60492874 0.32 0.112061 0.3137 intronic WDR62 Reference - - - - - - - - WDR62 chr19 36604736 36604736 A - 8/5(0.38) 197 13 het unknown deletion chr19 rs34390728 0.28 0.028275 0.2647 intronic POLR2I Reference - - - - - - - - POLR2I chr19 37309182 37309184 CTG - 8/5(0.38) 197 13 het unknown deletion chr19 rs10564276 - - 0.3186 ncRNA_intronic ZNF790-AS1 Reference - - - - - - - - ZNF790-AS1 chr19 37314780 37314780 G - 2/3(0.60) 73 5 het unknown deletion chr19 - - - 0.0074 ncRNA_intronic ZNF790-AS1 Reference - - - - - - - - ZNF790-AS1 chr19 37488677 37488677 - A 7/9(0.56) 164 16 het unknown insertion chr19 rs3833257 - - 0.2598 3-UTR ZNF568 Reference - - - - - - - - ZNF568 chr19 37621281 37621281 G - 8/7(0.47) 241 15 het unknown deletion chr19 rs142922976 0.04 - 0.0392 downstream ZNF420 Reference - - - - - - - - ZNF420 chr19 37697928 37697930 CTC - 7/5(0.42) 200 12 het unknown deletion chr19 rs140349809 0.04 0.012380 0.0490 intronic ZNF585B Reference - - - - - - - - ZNF585B chr19 37721404 37721404 - A 22/13(0.37) 56 35 het unknown insertion chr19 - - - 0.2353 intronic ZNF383 Reference - - - - - - - - ZNF383 chr19 37825839 37825839 T - 3/3(0.50) 108 6 het unknown deletion chr19 rs143085684 0.29 - 0.1789 intronic HKR1 Reference - - - - - - - - HKR1 chr19 37864925 37864925 - C 0/33(1.00) 1822 33 hom unknown insertion chr19 - - - 0.3897 intronic ZNF527 Reference - - - - - - - - ZNF527 chr19 37903316 37903316 - T 1/3(0.75) 137 4 het unknown insertion chr19 rs3840940 0.28 - 0.1765 3-UTR ZNF569 Reference - - - - - - - - ZNF569 chr19 38027715 38027715 - T 4/6(0.60) 308 10 het unknown insertion chr19 - 0.67 - 0.3235 intronic ZNF793 Reference - - - - - - - - ZNF793 chr19 38135444 38135444 - AAAAAG 48/58(0.55) 3070 106 het unknown insertion chr19 rs71298747 - - 0.3382 intronic ZFP30 Reference - - - - - - - - ZFP30 chr19 38673127 38673127 T - 15/9(0.38) 152 24 het unknown deletion chr19 rs3833273 0.38 0.235261 0.3848 intronic SIPA1L3 Reference - - - - - - - - SIPA1L3 chr19 38798156 38798158 ATC - 41/31(0.43) 1456 72 het nonframeshift deletion chr19 - - - - exonic YIF1B Reference - - - - - - - - YIF1B,NM_001145463,exon7,c.690_692del,p.230_231del;YIF1B,NM_001145461,exon7,c.648_650del,p.216_217del;YIF1B,NM_033557,exon6,c.606_608del,p.202_203del;YIF1B,NM_001145462,exon7,c.606_608del,p.202_203del;YIF1B,NM_001039672,exon7,c.699_701del,p.233_234del;YIF1B,NM_001039671,exon7,c.654_656del,p.218_219del;YIF1B,NM_001039673,exon7,c.690_692del,p.230_231del chr19 38935350 38935350 - C 1/70(0.99) 2733 71 hom unknown insertion chr19 rs35018208 - - 0.4216 intronic RYR1 Reference - - - - - - - - RYR1 chr19 39227108 39227128 TTGACCAAGCCCCAGGGCAGG - 0/15(1.00) 694 15 hom unknown deletion chr19 rs202243527 0.23 0.275537 0.1495 intronic CAPN12 Reference - - - - - - - - CAPN12 chr19 39297007 39297007 - A 7/5(0.42) 48 12 het unknown insertion chr19 rs74176466 0.31 - 0.2623 intronic LGALS4 Reference - - - - - - - - LGALS4 chr19 39412756 39412756 - T 76/51(0.40) 857 127 het unknown insertion chr19 - - - 0.3284 intronic SARS2 Reference - - - - - - - - SARS2 chr19 39433136 39433136 - A 8/4(0.33) 176 12 het unknown insertion chr19 rs147426534 0.51 - 0.3333 3-UTR FBXO17 Reference - - - - - - - - FBXO17 chr19 39433498 39433498 T - 0/13(1.00) 538 13 hom unknown deletion chr19 rs11313800 0.98 - 0.4608 intronic FBXO17 Reference - - - - - - - - FBXO17 chr19 39437259 39437260 CA - 0/61(1.00) 3070 61 hom unknown deletion chr19 rs10568003 0.71 0.461022 0.4289 intronic FBXO17 Reference - - - - - - - - FBXO17 chr19 39522870 39522870 - C 3/3(0.50) 63 6 het unknown insertion chr19 - - - - 5-UTR FBXO27 Reference - - - - - - - - FBXO27 chr19 40366981 40366982 AG - 1/3(0.75) 114 4 het unknown deletion chr19 rs143044223 0.12 - 0.0882 intronic FCGBP Reference - - - - - - - - FCGBP chr19 40384321 40384324 AGAA - 4/10(0.71) 470 14 het unknown deletion chr19 rs143762064 0.13 - 0.1765 intronic FCGBP Reference - - - - - - - - FCGBP chr19 40397939 40397940 TG - 71/49(0.41) 2306 120 het unknown deletion chr19 rs146875849 0.10 0.189910 0.1103 intronic FCGBP Reference - - - - - - - - FCGBP chr19 40405903 40405903 - GCCC 8/4(0.33) 175 12 het unknown insertion chr19 rs199846896 0.10 0.250933 0.1127 intronic FCGBP Reference - - - - - - - - FCGBP chr19 41082994 41082994 C - 5/5(0.50) 30 10 het unknown deletion chr19 rs35684786 - - 0.2328 intronic SHKBP1 Reference - - - - - - - - SHKBP1 chr19 41083855 41083856 AC - 8/4(0.33) 142 12 het unknown deletion chr19 rs67613859 - - 0.0858 intronic SHKBP1 Reference - - - - - - - - SHKBP1 chr19 41084471 41084471 - G 31/15(0.33) 591 46 het unknown insertion chr19 - 0.25 0.277476 0.2868 intronic SHKBP1 Reference - - - - - - - - SHKBP1 chr19 41095087 41095112 GAGGACAGTCCTGTCCAACAGGGAGG - 33/22(0.40) 1011 55 het unknown deletion chr19 - - - 0.2475 intronic SHKBP1 Reference - - - - - - - - SHKBP1 chr19 41123093 41123093 - G 0/73(1.00) 3070 73 hom unknown insertion chr19 rs148342200 - - 0.5613 exonic LTBP4 Reference - - - - - - - - LTBP4 chr19 41382606 41382606 - C 16/5(0.24) 211 21 het unknown insertion chr19 rs139072168 0.65 - 0.0294 intronic CYP2A7 Reference - - - - - - - - CYP2A7 chr19 41403982 41403982 - T 24/25(0.51) 1095 49 het unknown insertion chr19 - 0.47 - 0.3897 ncRNA_intronic CYP2G1P Reference - - - - - - - - CYP2G1P chr19 41557810 41557811 TG - 1/2(0.67) 61 3 het unknown deletion chr19 rs113927171 0.35 - 0.2255 intergenic CYP2B6;CYP2A13 Reference - - - - - - - - CYP2B6(dist=33509);CYP2A13(dist=36545) chr19 41869487 41869487 - A 10/8(0.44) 410 18 het unknown insertion chr19 - - - 0.3578 intronic B9D2 Reference - - - - - - - - B9D2 chr19 41928867 41928867 - C 53/27(0.34) 1244 80 het unknown insertion chr19 rs3217385 0.45 0.674313 0.4338 intronic BCKDHA Reference - - - - - - - - BCKDHA chr19 41931454 41931454 - GGCCAGGGCCGG 8/12(0.60) 656 20 het unknown insertion chr19 rs113478859 - - 0.2892 3-UTR B3GNT8 Reference - - - - - - - - B3GNT8 chr19 42083739 42083739 - GAC 42/42(0.50) 2352 84 het nonframeshift insertion chr19 rs200821863 0.36 0.030163 0.4289 exonic CEACAM21 Reference - - - - - - - - CEACAM21,NM_033543,exon2,c.252_253insGAC,p.I84delinsID;CEACAM21,NM_001098506,exon2,c.252_253insGAC,p.I84delinsID chr19 42191935 42191935 C - 0/43(1.00) 1878 43 hom unknown deletion chr19 rs34742303 0.30 - 0.2868 intronic CEACAM7 Reference - - - - - - - - CEACAM7 chr19 42212753 42212753 - GCACAGAGACTG 0/62(1.00) 3070 62 hom unknown insertion chr19 rs111973464 - 0.521876 0.2574 intronic CEACAM5 Reference - - - - - - - - CEACAM5 chr19 42311060 42311060 - AAG 0/13(1.00) 776 13 hom unknown insertion chr19 rs5828129 - - 0.4240 intronic CEACAM3 Reference - - - - - - - - CEACAM3 chr19 42352413 42352413 - A 6/7(0.54) 57 13 het unknown insertion chr19 - - - 0.0025 intronic DMRTC2 Reference - - - - - - - - DMRTC2 chr19 42398206 42398206 - GT 2/2(0.50) 95 4 het unknown insertion chr19 rs35797687 - - 0.1520 intronic ARHGEF1 Reference - - - - - - - - ARHGEF1 chr19 43420852 43420852 - C 2/3(0.60) 81 5 het unknown insertion chr19 rs113973429 0.39 - 0.3113 intronic PSG6 Reference - - - - - - - - PSG6 chr19 43529312 43529312 - AC 1/4(0.80) 197 5 het unknown insertion chr19 rs71336836 - - 0.1593 intronic PSG11 Reference - - - - - - - - PSG11 chr19 43530641 43530641 T - 0/19(1.00) 1006 19 hom unknown deletion chr19 rs60941975 - - 0.4485 upstream PSG11 Reference - - - - - - - - PSG11 chr19 43585503 43585510 ACACACAC - 2/3(0.60) 110 5 het unknown deletion chr19 rs201907105 - - 0.0809 intronic PSG2 Reference - - - - - - - - PSG2 chr19 43674406 43674406 T - 7/15(0.68) 592 22 het unknown deletion chr19 rs59577450 0.56 - 0.3284 intronic PSG5 Reference - - - - - - - - PSG5 chr19 43708979 43708979 C - 1/39(0.97) 2048 40 hom unknown deletion chr19 rs67183694 0.77 - 0.2966 intronic PSG4 Reference - - - - - - - - PSG4 chr19 43876980 43876980 C - 10/36(0.78) 1362 46 het unknown deletion chr19 rs71774559 - - 0.3799 intergenic CD177;TEX101 Reference - - - - - - - - CD177(dist=9500);TEX101(dist=15783) chr19 44047494 44047495 GT - 10/2(0.17) 32 12 het unknown deletion chr19 - - - 0.1176 3-UTR XRCC1 Reference - - - - - - - - XRCC1 chr19 44111569 44111570 AC - 22/18(0.45) 805 40 het unknown deletion chr19 rs35296355 - - 0.3750 3-UTR ZNF428 Reference - - - - - - - - ZNF428 chr19 44426467 44426467 - G 0/42(1.00) 2602 42 hom unknown insertion chr19 rs57712519 0.82 - 0.3897 intronic ZNF45 Reference - - - - - - - - ZNF45 chr19 44503542 44503542 A - 0/17(1.00) 749 17 hom unknown deletion chr19 rs11314755 - - 0.3922 intergenic ZNF155;ZNF230 Reference - - - - - - - - ZNF230(dist=3535);ZNF155(dist=1065) chr19 44530445 44530446 AC - 6/6(0.50) 255 12 het unknown deletion chr19 rs3830527 - - 0.2451 intronic ZNF222 Reference - - - - - - - - ZNF222 chr19 44590000 44590002 CTC - 58/34(0.37) 1562 92 het nonframeshift deletion chr19 rs139900131 0.34 0.552686 0.4289 exonic ZNF284 Reference - - - - - - - - ZNF284,NM_001037813,exon5,c.369_371del,p.123_124del chr19 44778796 44778796 G - 28/18(0.39) 816 46 het frameshift deletion chr19 rs59660444 0.22 0.279473 0.2819 exonic ZNF233 Reference - - - - - - - - ZNF233,NM_181756,exon5,c.1983delG,p.S661fs;ZNF233,NM_001207005,exon5,c.1983delG,p.S661fs chr19 44847481 44847481 A - 71/51(0.42) 1872 122 het unknown deletion chr19 rs5828194 0.57 0.391929 0.3897 intronic ZNF112 Reference - - - - - - - - ZNF112 chr19 45016991 45016991 T - 0/63(1.00) 2891 63 hom frameshift deletion chr19 rs5828200 - 0.999829 0.5221 exonic CEACAM20 Reference - - - - - - - - CEACAM20,NM_001102598,exon8,c.1169delA,p.E390fs;CEACAM20,NM_001102599,exon8,c.1169delA,p.E390fs;CEACAM20,NM_001102600,exon9,c.1448delA,p.E483fs;CEACAM20,NM_001102597,exon9,c.1448delA,p.E483fs chr19 45017478 45017478 A - 0/36(1.00) 1634 36 hom unknown deletion chr19 rs10706694 - - 0.4093 intronic CEACAM20 Reference - - - - - - - - CEACAM20 chr19 45024880 45024881 GT - 6/9(0.60) 412 15 het unknown deletion chr19 rs57244256 - - 0.0809 intronic CEACAM20 Reference - - - - - - - - CEACAM20 chr19 45033382 45033389 CACACACA - 13/10(0.43) 154 23 het unknown deletion chr19 - - - 0.0025 intronic CEACAM20 Reference - - - - - - - - CEACAM20 chr19 45033380 45033389 CACACACACA - 13/10(0.43) 154 23 het unknown deletion chr19 - - - 0.0074 intronic CEACAM20 Reference - - - - - - - - CEACAM20 chr19 45138670 45138670 C - 6/12(0.67) 492 18 het unknown deletion chr19 - - - 0.2549 intronic IGSF23 Reference - - - - - - - - IGSF23 chr19 45138672 45138674 CTC - 6/12(0.67) 492 18 het unknown deletion chr19 - - - 0.2525 intronic IGSF23 Reference - - - - - - - - IGSF23 chr19 45138840 45138840 G - 24/25(0.51) 1193 49 het unknown deletion chr19 rs148276286 0.06 - 0.0686 intronic IGSF23 Reference - - - - - - - - IGSF23 chr19 45147518 45147518 - A 0/25(1.00) 1531 25 hom unknown insertion chr19 rs5828211 - 0.999714 0.4093 intronic PVR Reference - - - - - - - - PVR chr19 45157113 45157113 - G 0/68(1.00) 3070 68 hom unknown insertion chr19 rs71171278 - - 0.5098 intronic PVR Reference - - - - - - - - PVR chr19 45296846 45296846 - C 35/13(0.27) 592 48 het frameshift insertion chr19 rs112439822 0.08 0.064297 0.1569 exonic CBLC Reference - - - - - - - - CBLC,NM_012116,exon8,c.1254dupC,p.D418fs;CBLC,NM_001130852,exon7,c.1116dupC,p.D372fs chr19 45297450 45297450 - G 34/7(0.17) 277 41 het unknown insertion chr19 - - - 0.0833 intronic CBLC Reference - - - - - - - - CBLC chr19 45465364 45465364 A - 37/29(0.44) 1003 66 het unknown deletion chr19 rs35566032 0.57 0.390172 0.3652 intronic CLPTM1 Reference - - - - - - - - CLPTM1 chr19 45477911 45477911 T - 0/46(1.00) 1926 46 hom unknown deletion chr19 rs11318909 - - 0.5343 intronic CLPTM1 Reference - - - - - - - - CLPTM1 chr19 45489548 45489548 - G 0/15(1.00) 902 15 hom unknown insertion chr19 rs80325448 - - 0.4118 intronic CLPTM1 Reference - - - - - - - - CLPTM1 chr19 45494247 45494247 - C 0/47(1.00) 2767 47 hom unknown insertion chr19 rs11405080 - 0.999920 0.4877 intronic CLPTM1 Reference - - - - - - - - CLPTM1 chr19 45494350 45494350 C - 0/19(1.00) 794 19 hom unknown deletion chr19 rs11333249 - - 0.4436 intronic CLPTM1 Reference - - - - - - - - CLPTM1 chr19 45513147 45513152 GCCTTC - 9/12(0.57) 559 21 het unknown deletion chr19 rs150557566 - 0.322506 0.2304 intronic RELB Reference - - - - - - - - RELB chr19 45571900 45571900 - CC 0/19(1.00) 1093 19 hom unknown insertion chr19 rs34337168 0.41 - 0.3211 intronic CLASRP Reference - - - - - - - - CLASRP chr19 45801580 45801590 GGTCTGTGCGT - 9/6(0.40) 247 15 het unknown deletion chr19 rs139000043 0.13 - 0.1078 intronic MARK4 Reference - - - - - - - - MARK4 chr19 45911320 45911320 A - 12/16(0.57) 247 28 het unknown deletion chr19 rs11314106 - - 0.2672 3-UTR ERCC1 Reference - - - - - - - - ERCC1 chr19 46032736 46032737 AG - 54/43(0.44) 2043 97 het unknown deletion chr19 rs149252540 - 0.134478 0.1961 intronic OPA3 Reference - - - - - - - - OPA3 chr19 46175977 46175979 ATC - 9/7(0.44) 281 16 het unknown deletion chr19 rs13306396 - - 0.2843 intronic GIPR Reference - - - - - - - - GIPR chr19 46192367 46192367 - C 47/54(0.53) 2426 101 het unknown insertion chr19 rs75892119 0.22 - 0.2304 intronic SNRPD2 Reference - - - - - - - - SNRPD2 chr19 46265047 46265047 - TCCAGC 13/15(0.54) 819 28 het unknown insertion chr19 rs139434566 - - 0.4044 intergenic LOC388553;SIX5 Reference - - - - - - - - SIX5(dist=2996);LOC388553(dist=2299) chr19 46327210 46327210 T - 0/11(1.00) 469 11 hom unknown deletion chr19 rs11284049 0.91 - 0.4044 intronic SYMPK Reference - - - - - - - - SYMPK chr19 46652397 46652408 CTCTCTCTCTCC - 3/3(0.50) 108 6 het unknown deletion chr19 rs138711585 - - 0.1520 intronic IGFL2 Reference - - - - - - - - IGFL2 chr19 46815969 46815969 - GTGTGT 0/3(1.00) 115 3 het unknown insertion chr19 rs146459631 - - 0.0049 intronic HIF3A Reference - - - - - - - - HIF3A chr19 46815969 46815969 - GTGTGTGT 0/3(1.00) 115 3 het unknown insertion chr19 - - - 0.2426 intronic HIF3A Reference - - - - - - - - HIF3A chr19 47105585 47105585 - T 43/31(0.42) 840 74 het unknown insertion chr19 rs35630463 - - 0.3848 intronic CALM3 Reference - - - - - - - - CALM3 chr19 47137482 47137483 AT - 11/17(0.61) 814 28 het unknown deletion chr19 rs3833245 0.24 0.210013 0.2402 intronic GNG8 Reference - - - - - - - - GNG8 chr19 47343098 47343098 - G 2/5(0.71) 238 7 het unknown insertion chr19 rs146433016 0.49 - 0.2549 intronic AP2S1 Reference - - - - - - - - AP2S1 chr19 47933190 47933190 - G 0/18(1.00) 974 18 hom unknown insertion chr19 rs142312177 - - 0.5025 3-UTR SLC8A2 Reference - - - - - - - - SLC8A2 chr19 48184643 48184643 G - 0/12(1.00) 309 12 hom unknown deletion chr19 rs58014830 - - 0.4412 intronic GLTSCR1 Reference - - - - - - - - GLTSCR1 chr19 48244045 48244045 - T 6/10(0.62) 542 16 het unknown insertion chr19 rs34197064 0.56 - 0.3407 intronic EHD2 Reference - - - - - - - - EHD2 chr19 48244692 48244692 - G 14/8(0.36) 372 22 het unknown insertion chr19 rs3833256 0.55 0.743433 0.3897 3-UTR EHD2 Reference - - - - - - - - EHD2 chr19 48282077 48282077 - GCAGCGG 25/23(0.48) 1263 48 het unknown insertion chr19 rs111841672 - 0.639233 0.3015 intronic SEPW1 Reference - - - - - - - - SEPW1 chr19 48284025 48284025 - G 51/22(0.30) 621 73 het unknown insertion chr19 rs34362700 - 0.414909 0.3260 intronic SEPW1 Reference - - - - - - - - SEPW1 chr19 48494852 48494854 CCT - 2/4(0.67) 163 6 het unknown deletion chr19 rs145749213 0.25 - 0.1103 intronic BSPH1 Reference - - - - - - - - BSPH1 chr19 48601593 48601593 - T 10/9(0.47) 155 19 het unknown insertion chr19 rs11432234 0.69 - 0.4387 intronic PLA2G4C Reference - - - - - - - - PLA2G4C chr19 48630701 48630702 CC - 0/19(1.00) 770 19 hom unknown deletion chr19 rs61230848 0.85 - 0.4657 intronic LIG1 Reference - - - - - - - - LIG1 chr19 48643051 48643052 CT - 0/12(1.00) 620 12 hom unknown deletion chr19 rs147583451 0.58 - 0.3382 intronic LIG1 Reference - - - - - - - - LIG1 chr19 48660244 48660251 AAGGGGCA - 0/14(1.00) 730 14 hom unknown deletion chr19 rs3730867 - 0.437714 0.4559 intronic LIG1 Reference - - - - - - - - LIG1 chr19 48668966 48668966 - A 4/32(0.89) 590 36 hom unknown insertion chr19 - - - 0.2770 intronic LIG1 Reference - - - - - - - - LIG1 chr19 48788905 48788912 GAAAGAAA - 13/11(0.46) 483 24 het unknown deletion chr19 rs140236127 - - 0.2181 intronic ZNF114 Reference - - - - - - - - ZNF114 chr19 48908632 48908632 G - 0/25(1.00) 1027 25 hom unknown deletion chr19 rs34833452 0.32 0.279381 0.2990 intronic GRIN2D Reference - - - - - - - - GRIN2D chr19 48945339 48945339 - C 15/13(0.46) 610 28 het unknown insertion chr19 rs140925993 0.15 - 0.1887 intronic GRIN2D Reference - - - - - - - - GRIN2D chr19 48994758 48994758 G - 11/4(0.27) 32 15 het frameshift deletion chr19 - - - - exonic LMTK3 Reference - - - - - - - - LMTK3,NM_001080434,exon14,c.4218delC,p.P1406fs chr19 49090368 49090368 - A 0/11(1.00) 265 11 hom unknown insertion chr19 rs34482710 - - 0.3333 intronic SULT2B1 Reference - - - - - - - - SULT2B1 chr19 49095142 49095142 - AGA 0/12(1.00) 688 12 hom unknown insertion chr19 rs10648968 - - 0.3627 intronic SULT2B1 Reference - - - - - - - - SULT2B1 chr19 49141407 49141410 AGAC - 0/13(1.00) 675 13 hom unknown deletion chr19 rs137896889 0.30 0.558325 0.2451 ncRNA_intronic SEC1P Reference - - - - - - - - SEC1P chr19 49416555 49416555 A - 0/30(1.00) 936 30 hom unknown deletion chr19 rs5828369 - - 0.4314 intronic NUCB1 Reference - - - - - - - - NUCB1 chr19 49652129 49652129 T - 14/14(0.50) 649 28 het unknown deletion chr19 rs112505587 0.24 - 0.2304 intronic PPFIA3 Reference - - - - - - - - PPFIA3 chr19 49657710 49657710 - CAT 11/13(0.54) 683 24 het nonframeshift insertion chr19 - - - 0.0147 exonic HRC Reference - - - - - - - - HRC,NM_002152,exon1,c.784_785insATG,p.V262delinsDV chr19 49693743 49693743 G - 7/6(0.46) 119 13 het unknown deletion chr19 rs3215289 0.17 - 0.1397 intronic TRPM4 Reference - - - - - - - - TRPM4 chr19 49705117 49705117 A - 8/8(0.50) 254 16 het unknown deletion chr19 rs11353757 0.18 - 0.2206 intronic TRPM4 Reference - - - - - - - - TRPM4 chr19 49797888 49797888 A - 5/5(0.50) 114 10 het unknown deletion chr19 rs3214611 0.50 - 0.3603 intronic SLC6A16 Reference - - - - - - - - SLC6A16 chr19 49894027 49894027 - C 19/10(0.34) 502 29 het unknown insertion chr19 rs61018355 - - 0.3627 intronic CCDC155 Reference - - - - - - - - CCDC155 chr19 49935927 49935927 - G 0/18(1.00) 974 18 hom unknown insertion chr19 rs77320440 - - 0.5564 intronic SLC17A7 Reference - - - - - - - - SLC17A7 chr19 49956461 49956480 TAGCCCCACCCCATTCCCAT - 0/11(1.00) 564 11 hom unknown deletion chr19 rs11267495 0.38 - 0.2990 5-UTR ALDH16A1 Reference - - - - - - - - ALDH16A1 chr19 49964691 49964691 - A 1/3(0.75) 137 4 het unknown insertion chr19 - - - 0.0319 intronic ALDH16A1 Reference - - - - - - - - ALDH16A1 chr19 49979108 49979108 T - 3/6(0.67) 70 9 het unknown deletion chr19 rs61254172 - - 0.0613 intronic FLT3LG Reference - - - - - - - - FLT3LG chr19 50216118 50216118 - G 0/53(1.00) 2952 53 hom unknown insertion chr19 rs78609265 - - 0.5098 intronic CPT1C Reference - - - - - - - - CPT1C chr19 50314459 50314459 A - 14/9(0.39) 48 23 het unknown deletion chr19 rs55810357 - - 0.2843 intronic FUZ Reference - - - - - - - - FUZ chr19 50322620 50322620 G - 19/20(0.51) 699 39 het unknown deletion chr19 rs11361316 - - 0.4142 intronic MED25 Reference - - - - - - - - MED25 chr19 50370847 50370850 GTGG - 3/3(0.50) 108 6 het unknown deletion chr19 rs3739164 0.33 - 0.2108 upstream PNKP Reference - - - - - - - - PNKP chr19 50399384 50399384 - C 20/18(0.47) 769 38 het unknown insertion chr19 rs35898024 - 0.528178 0.4118 intronic IL4I1 Reference - - - - - - - - IL4I1 chr19 50482615 50482615 A - 4/4(0.50) 157 8 het unknown deletion chr19 rs3833235 0.32 - 0.2721 intronic VRK3 Reference - - - - - - - - VRK3 chr19 50484131 50484133 AGG - 5/3(0.38) 102 8 het unknown deletion chr19 rs10533547 0.04 - 0.0588 intronic VRK3 Reference - - - - - - - - VRK3 chr19 50496281 50496281 - AC 0/16(1.00) 965 16 hom unknown insertion chr19 rs113770287 - - 0.4142 intronic VRK3 Reference - - - - - - - - VRK3 chr19 50657787 50657787 G - 0/133(1.00) 3070 133 hom unknown deletion chr19 rs66651303 - - 0.5564 intronic IZUMO2 Reference - - - - - - - - IZUMO2 chr19 50881820 50881820 - AAC 36/42(0.54) 2293 78 het nonframeshift insertion chr19 rs55652650 0.90 0.783014 0.6446 exonic NR1H2 Reference - - - - - - - - NR1H2,NM_007121,exon6,c.514_515insAAC,p.K172delinsKQ;NR1H2,NM_001256647,exon5,c.223_224insAAC,p.K75delinsKQ chr19 51302633 51302634 AG - 0/11(1.00) 565 11 hom unknown deletion chr19 rs200104956 - - 0.3725 intronic C19orf48 Reference - - - - - - - - C19orf48 chr19 51326889 51326889 - G 6/7(0.54) 142 13 het unknown insertion chr19 - - - - intronic KLK1 Reference - - - - - - - - KLK1 chr19 51331199 51331199 - T 0/13(1.00) 534 13 hom unknown insertion chr19 - - - 0.3848 intronic KLK15 Reference - - - - - - - - KLK15 chr19 51331205 51331205 - T 0/12(1.00) 635 12 hom unknown insertion chr19 - - - 0.3775 intronic KLK15 Reference - - - - - - - - KLK15 chr19 51465200 51465200 - C 3/5(0.62) 137 8 het unknown insertion chr19 - 0.29 - 0.2819 intronic KLK6 Reference - - - - - - - - KLK6 chr19 51480672 51480675 GGTT - 9/11(0.55) 507 20 het unknown deletion chr19 rs59354651 0.52 - 0.3554 3-UTR KLK7 Reference - - - - - - - - KLK7 chr19 51537903 51537903 - A 6/3(0.33) 87 9 het unknown insertion chr19 rs79428686 0.66 0.278159 0.4436 intronic KLK12 Reference - - - - - - - - KLK12 chr19 51831773 51831773 - G 15/13(0.46) 477 28 het unknown insertion chr19 rs201743000 0.04 - 0.0882 intronic IGLON5 Reference - - - - - - - - IGLON5 chr19 51835892 51835892 - G 0/83(1.00) 3070 83 hom frameshift insertion chr19 - - 0.999704 0.5098 exonic VSIG10L Reference - - - - - - - - VSIG10L,NM_001163922,exon10,c.2576dupC,p.A859fs chr19 51919435 51919435 A - 38/14(0.27) 48 52 het unknown deletion chr19 - - - 0.0098 intronic LOC100129083;SIGLEC10 Reference - - - - - - - - LOC100129083;SIGLEC10 chr19 51984580 51984598 GGAGAGGAGCAGAGCTTGG - 5/4(0.44) 154 9 het unknown deletion chr19 rs141391162 - - 0.0368 intronic CEACAM18 Reference - - - - - - - - CEACAM18 chr19 52004791 52004791 - C 84/53(0.39) 2536 137 het frameshift insertion chr19 rs138201673 0.37 0.650319 0.4387 exonic SIGLEC12 Reference - - - - - - - - SIGLEC12,NM_053003,exon1,c.196dupG,p.A66fs chr19 52096034 52096038 ATAAA - 37/32(0.46) 1497 69 het unknown deletion chr19 rs3838908 0.58 - 0.4534 ncRNA_exonic FLJ30403 Reference - - - - - - - - FLJ30403 chr19 52132103 52132114 TGTGCGTGTGTA - 7/5(0.42) 200 12 het unknown deletion chr19 rs147684241 0.48 - 0.3211 intronic SIGLEC5 Reference - - - - - - - - SIGLEC5 chr19 52132524 52132524 - ACACACAC 2/5(0.71) 254 7 het unknown insertion chr19 - - - 0.0025 intronic SIGLEC5 Reference - - - - - - - - SIGLEC5 chr19 52148980 52148980 - A 1/6(0.86) 329 7 het unknown insertion chr19 - - - 0.1103 intronic SIGLEC14 Reference - - - - - - - - SIGLEC14 chr19 52148981 52148981 - ACA 1/5(0.83) 269 6 het unknown insertion chr19 - - - - intronic SIGLEC14 Reference - - - - - - - - SIGLEC14 chr19 52208277 52208277 - C 0/36(1.00) 2223 36 hom unknown insertion chr19 rs11382950 - - 0.4436 ncRNA_intronic SPACA6P Reference - - - - - - - - SPACA6P chr19 52227137 52227137 - AC 2/5(0.71) 178 7 het unknown insertion chr19 - - - 0.0343 intronic HAS1 Reference - - - - - - - - HAS1 chr19 52227137 52227137 - ACAC 2/5(0.71) 178 7 het unknown insertion chr19 - - - 0.0515 intronic HAS1 Reference - - - - - - - - HAS1 chr19 52227499 52227501 TCT - 3/5(0.62) 212 8 het unknown deletion chr19 rs60487647 0.47 - 0.2377 upstream HAS1 Reference - - - - - - - - HAS1 chr19 52249072 52249072 T - 5/10(0.67) 37 15 het unknown deletion chr19 rs5828493 - - 0.2990 3-UTR FPR1 Reference - - - - - - - - FPR1 chr19 52469534 52469534 - T 5/7(0.58) 163 12 het unknown insertion chr19 - 0.06 - 0.1078 ncRNA_intronic HCCAT3 Reference - - - - - - - - HCCAT3 chr19 52693290 52693290 C - 13/16(0.55) 342 29 het unknown deletion chr19 - - - 0.0343 5-UTR PPP2R1A Reference - - - - - - - - PPP2R1A chr19 52803670 52803671 TG - 0/69(1.00) 3070 69 hom frameshift deletion chr19 rs3217319 0.68 0.615895 0.5588 exonic ZNF480 Reference - - - - - - - - ZNF480,NM_144684,exon2,c.5_6del,p.2_2del chr19 52887246 52887246 - CAA 8/12(0.60) 656 20 het nonframeshift insertion chr19 rs34678014 0.31 0.344630 0.2966 exonic ZNF880 Reference - - - - - - - - ZNF880,NM_001145434,exon4,c.413_414insCAA,p.I138delinsIN chr19 52887601 52887603 ACG - 27/21(0.44) 976 48 het nonframeshift deletion chr19 rs148392772 0.05 - 0.1225 exonic ZNF880 Reference - - - - - - - - ZNF880,NM_001145434,exon4,c.768_770del,p.256_257del chr19 52920006 52920006 - TG 34/28(0.45) 1514 62 het unknown insertion chr19 rs10664588 0.64 0.792379 0.4730 3-UTR ZNF528 Reference - - - - - - - - ZNF528 chr19 53087133 53087136 AATA - 22/8(0.27) 313 30 het unknown deletion chr19 rs146276582 0.08 - 0.0784 3-UTR ZNF701 Reference - - - - - - - - ZNF701 chr19 53304469 53304470 AT - 55/38(0.41) 1780 93 het frameshift deletion chr19 rs146695045 0.05 - 0.0564 exonic ZNF28 Reference - - - - - - - - ZNF28,NM_006969,exon4,c.628_629del,p.210_210del chr19 53651845 53651845 - TC 0/41(1.00) 2539 41 hom unknown insertion chr19 rs199620223 0.77 - 0.3971 intronic ZNF347 Reference - - - - - - - - ZNF347 chr19 53727100 53727100 - TA 0/18(1.00) 1091 18 hom unknown insertion chr19 rs35443981 - - 0.3382 intergenic ZNF818P;ZNF677 Reference - - - - - - - - ZNF677(dist=11538);ZNF818P(dist=7745) chr19 53727145 53727145 - GTTTT 11/9(0.45) 466 20 het unknown insertion chr19 rs145123197 - - 0.2990 intergenic ZNF818P;ZNF677 Reference - - - - - - - - ZNF677(dist=11493);ZNF818P(dist=7790) chr19 53912805 53912805 - AC 0/74(1.00) 3070 74 hom unknown insertion chr19 rs201029515 0.67 - 0.4632 3-UTR ZNF765 Reference - - - - - - - - ZNF765 chr19 53993551 53993551 - TG 11/7(0.39) 346 18 het unknown insertion chr19 rs35938241 - - 0.4093 intronic ZNF813 Reference - - - - - - - - ZNF813 chr19 54191516 54191536 GTTTGAGAACAAAACTCGGGA - 0/12(1.00) 620 12 hom unknown deletion chr19 rs141400919 - - 0.0613 upstream MIR1283-1 Reference - - - - - - - - MIR1283-1 chr19 54244504 54244519 AAATAAATACATAAAT - 4/15(0.79) 710 19 het unknown deletion chr19 - - - - upstream MIR517C Reference - - - - - - - - MIR517C chr19 54265780 54265780 T - 0/44(1.00) 1121 44 hom unknown deletion chr19 rs11360686 - - 0.4461 downstream MIR519A2 Reference - - - - - - - - MIR519A2 chr19 54396046 54396046 - CACA 8/7(0.47) 355 15 het unknown insertion chr19 rs146099614 - - 0.0539 intronic PRKCG Reference - - - - - - - - PRKCG chr19 54445595 54445595 G - 0/55(1.00) 1971 55 hom unknown deletion chr19 rs11324363 - - 0.5711 3-UTR CACNG7 Reference - - - - - - - - CACNG7 chr19 54483312 54483313 GT - 11/4(0.27) 136 15 het unknown deletion chr19 rs71949256 - - 0.0809 intronic CACNG8 Reference - - - - - - - - CACNG8 chr19 54627040 54627043 CACA - 12/6(0.33) 238 18 het unknown deletion chr19 rs35291886 - - 0.2206 intronic PRPF31 Reference - - - - - - - - PRPF31 chr19 54723894 54723894 A - 2/12(0.86) 580 14 het unknown deletion chr19 - - - 0.0098 intronic LILRB3 Reference - - - - - - - - LILRB3 chr19 54872431 54872431 - AGAG 5/3(0.38) 125 8 het unknown insertion chr19 rs199652187 0.04 - 0.0515 intronic LAIR1 Reference - - - - - - - - LAIR1 chr19 54963814 54963815 CT - 35/27(0.44) 1265 62 het unknown deletion chr19 rs3841263 0.22 - 0.2549 intronic LENG8 Reference - - - - - - - - LENG8 chr19 54973989 54973991 CCT - 42/40(0.49) 1922 82 het nonframeshift deletion chr19 rs140013148 0.20 0.507328 0.3284 exonic LENG9 Reference - - - - - - - - LENG9,NM_198988,exon1,c.785_787del,p.262_263del chr19 55014674 55014674 - CAA 0/31(1.00) 1885 31 hom unknown insertion chr19 rs111754128 - - 0.3309 intronic LAIR2 Reference - - - - - - - - LAIR2 chr19 55019526 55019526 - CCCTC 4/3(0.43) 106 7 het unknown insertion chr19 rs113360182 - - 0.3235 intronic LAIR2 Reference - - - - - - - - LAIR2 chr19 55044229 55044230 TC - 2/71(0.97) 3070 73 hom unknown deletion chr19 rs10553990 0.89 0.763320 0.4338 ncRNA_intronic KIR3DX1 Reference - - - - - - - - KIR3DX1 chr19 55049087 55049088 AA - 0/5(1.00) 67 5 het unknown deletion chr19 - - - 0.2475 ncRNA_intronic KIR3DX1 Reference - - - - - - - - KIR3DX1 chr19 55049088 55049088 - AAAGAAAG 0/19(1.00) 990 19 het unknown insertion chr19 - - - 0.0711 ncRNA_intronic KIR3DX1 Reference - - - - - - - - KIR3DX1 chr19 55175596 55175596 - GTGGGAG 0/28(1.00) 1698 28 hom unknown insertion chr19 rs5828594 0.73 - 0.5196 intronic LILRB4 Reference - - - - - - - - LILRB4 chr19 55250162 55250180 AGTGGAGATCTGGGCCTGG - 10/25(0.71) 1135 35 het unknown deletion chr19 - - - 0.0245 intronic KIR2DL3 Reference - - - - - - - - KIR2DL3 chr19 55250670 55250707 GATAGGGGCCTAGGGTGGAGATCTGAGCCTGGATTGGC - 4/2(0.33) 54 6 het unknown deletion chr19 - - - 0.0025 intronic KIR2DL3 Reference - - - - - - - - KIR2DL3 chr19 55320239 55320239 - AA 0/18(1.00) 1033 18 hom unknown insertion chr19 rs200590313 0.38 0.055182 0.1152 intronic KIR2DL4;LOC100287534 Reference - - - - - - - - LOC100287534;KIR2DL4 chr19 55324674 55324674 - A 1/38(0.97) 999 39 hom frameshift insertion chr19 rs11371265 - - 0.2279 exonic KIR2DL4;LOC100287534 Reference - - - - - - - - KIR2DL4,NM_001080772,exon6,c.802dupA,p.S267fs chr19 55344186 55344186 - A 37/15(0.29) 748 52 het unknown insertion chr19 - - - 0.0343 5-UTR KIR2DS4 Reference - - - - - - - - KIR2DS4 chr19 55344409 55344409 - G 18/4(0.18) 141 22 het unknown insertion chr19 - - - - intronic KIR2DS4 Reference - - - - - - - - KIR2DS4 chr19 55344428 55344428 - G 12/3(0.20) 97 15 het unknown insertion chr19 - - - - intronic KIR2DS4 Reference - - - - - - - - KIR2DS4 chr19 55421317 55421317 G - 12/4(0.25) 121 16 het unknown deletion chr19 - - - - intronic NCR1 Reference - - - - - - - - NCR1 chr19 55424255 55424255 - A 0/47(1.00) 2917 47 hom unknown insertion chr19 rs35890444 0.36 - 0.2990 3-UTR NCR1 Reference - - - - - - - - NCR1 chr19 55435268 55435268 C - 25/24(0.49) 885 49 het unknown deletion chr19 rs34438464 0.31 0.098802 0.3015 intronic NLRP7 Reference - - - - - - - - NLRP7 chr19 55438941 55438944 AAAC - 27/31(0.53) 1497 58 het unknown deletion chr19 rs104895515 0.72 0.545375 0.4314 intronic NLRP7 Reference - - - - - - - - NLRP7 chr19 55526103 55526103 - CAGA 2/103(0.98) 3070 105 hom frameshift insertion chr19 rs138680589 0.12 - 0.1936 exonic GP6 Reference - - - - - - - - GP6,NM_001083899,exon8,c.1209_1210insTCTG,p.P404fs chr19 55574429 55574429 - GGCGTCC 0/9(1.00) 457 9 het unknown insertion chr19 - - - 0.0882 5-UTR RDH13 Reference - - - - - - - - RDH13 chr19 55574429 55574429 - GGCGTCAGGCGTCC 0/9(1.00) 457 9 het unknown insertion chr19 rs113253419 - - 0.1299 5-UTR RDH13 Reference - - - - - - - - RDH13 chr19 55605658 55605658 - C 12/6(0.33) 213 18 het unknown insertion chr19 - - - 0.2598 intronic PPP1R12C Reference - - - - - - - - PPP1R12C chr19 55645330 55645337 GTGGGGAC - 38/40(0.51) 1934 78 het unknown deletion chr19 rs36210101 0.12 0.129834 0.1176 intronic TNNT1 Reference - - - - - - - - TNNT1 chr19 55668722 55668722 - CTGT 34/27(0.44) 1476 61 het unknown insertion chr19 rs113899745 0.41 0.300068 0.3284 intronic TNNI3 Reference - - - - - - - - TNNI3 chr19 55671178 55671178 - A 3/3(0.50) 131 6 het unknown insertion chr19 - - - 0.0564 intronic DNAAF3 Reference - - - - - - - - DNAAF3 chr19 55671974 55671994 GTCCCTGGCTTACCTGTTGTT - 42/33(0.44) 1522 75 het unknown deletion chr19 rs150324242 0.18 0.036371 0.1642 intronic DNAAF3 Reference - - - - - - - - DNAAF3 chr19 55698009 55698013 AGACC - 8/5(0.38) 197 13 het unknown deletion chr19 - - - 0.0417 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55698016 55698016 T - 7/4(0.36) 148 11 het unknown deletion chr19 - - - 0.0319 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55698019 55698019 A - 7/4(0.36) 148 11 het unknown deletion chr19 - - - 0.0221 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55698024 55698032 AGTCATGCC - 8/3(0.27) 94 11 het unknown deletion chr19 - - - 0.0147 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55698042 55698043 GC - 5/2(0.29) 50 7 het unknown deletion chr19 - - - 0.0098 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55703237 55703237 - G 66/48(0.42) 2486 114 het unknown insertion chr19 rs11394932 0.26 - 0.2328 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55703327 55703329 CCT - 41/15(0.27) 602 56 het unknown deletion chr19 rs144248045 0.26 - 0.2034 intronic PTPRH Reference - - - - - - - - PTPRH chr19 55888355 55888355 - CAGA 52/48(0.48) 2651 100 het unknown insertion chr19 - - - - intronic TMEM190 Reference - - - - - - - - TMEM190 chr19 55913286 55913286 - C 0/13(1.00) 734 13 hom unknown insertion chr19 - - - 0.4240 intronic UBE2S Reference - - - - - - - - UBE2S chr19 56009192 56009192 T - 0/14(1.00) 730 14 hom unknown deletion chr19 rs34794462 0.89 - 0.4069 intronic SSC5D Reference - - - - - - - - SSC5D chr19 56029616 56029616 - CCA 85/57(0.40) 3070 142 het nonframeshift insertion chr19 rs150781976 - 0.314938 0.4632 exonic SSC5D Reference - - - - - - - - SSC5D,NM_001144950,exon14,c.3973_3974insCCA,p.P1325delinsPT chr19 56052337 56052337 - C 0/181(1.00) 3070 181 hom frameshift insertion chr19 rs147187648 - - 0.5490 exonic SBK3 Reference - - - - - - - - SBK3,NM_001199824,exon4,c.954dupG,p.F319fs chr19 56599438 56599440 TCG - 3/2(0.40) 55 5 het nonframeshift deletion chr19 rs5828672 0.65 - 0.2304 exonic ZNF787 Reference - - - - - - - - ZNF787,NM_001002836,exon3,c.1101_1103del,p.367_368del chr19 56736551 56736551 - A 3/3(0.50) 96 6 het unknown insertion chr19 rs79216979 - - 0.2843 intronic ZSCAN5A Reference - - - - - - - - ZSCAN5A chr19 56904509 56904509 - A 2/21(0.91) 305 23 hom unknown insertion chr19 rs35012293 - - 0.3358 intronic ZNF582 Reference - - - - - - - - ZNF582 chr19 57742494 57742507 GGACGAGCAGGATT - 0/35(1.00) 1890 35 hom unknown deletion chr19 rs142269286 0.85 0.618392 0.4118 5-UTR AURKC Reference - - - - - - - - AURKC chr19 58118716 58118716 T - 11/19(0.63) 46 30 het unknown deletion chr19 rs10715037 - - 0.2279 3-UTR ZNF530 Reference - - - - - - - - ZNF530 chr19 58262454 58262454 - T 0/39(1.00) 2413 39 hom unknown insertion chr19 - 0.69 - 0.4240 intronic ZNF776 Reference - - - - - - - - ZNF776 chr19 58718360 58718360 - G 0/35(1.00) 2161 35 hom unknown insertion chr19 - - 0.999920 0.5466 exonic ZNF274 Reference - - - - - - - - ZNF274 chr19 58774224 58774224 C - 0/15(1.00) 656 15 hom unknown deletion chr19 rs34204906 0.56 - 0.4412 3-UTR ZNF544 Reference - - - - - - - - ZNF544 chr19 58797583 58797583 - T 27/24(0.47) 1318 51 het unknown insertion chr19 rs74752870 0.51 0.589776 0.4069 intronic ZNF8 Reference - - - - - - - - ZNF8 chr19 58858232 58858232 C - 0/27(1.00) 1214 27 hom unknown deletion chr19 rs3214663 0.90 - 0.3946 3-UTR A1BG Reference - - - - - - - - A1BG chr19 58858615 58858615 G - 0/21(1.00) 856 21 hom unknown deletion chr19 rs11345647 - - 0.4632 intronic A1BG Reference - - - - - - - - A1BG chr19 58864879 58864879 - G 0/18(1.00) 880 18 hom unknown insertion chr19 - 0.92 0.902782 0.4191 ncRNA_intronic A1BG-AS1 Reference - - - - - - - - A1BG-AS1 chr19 58920105 58920113 CGGGAGTTC - 7/8(0.53) 356 15 het unknown deletion chr19 rs145105239 0.25 - 0.2059 5-UTR ZNF584 Reference - - - - - - - - ZNF584 chr19 59082350 59082353 CACT - 70/66(0.49) 3070 136 het unknown deletion chr19 - - - 0.0221 ncRNA_intronic LOC100131691 Reference - - - - - - - - LOC100131691 chr20 126311 126312 CC - 118/98(0.45) 3070 216 het frameshift deletion chr20 rs140685149 0.48 - 0.5196 exonic DEFB126 Reference - - - - - - - - DEFB126,NM_030931,exon2,c.314_315del,p.105_105del chr20 209906 209906 - CTC 8/9(0.53) 476 17 het unknown insertion chr20 - - - 0.1961 intronic DEFB129 Reference - - - - - - - - DEFB129 chr20 238436 238441 TGGTCT - 0/67(1.00) 3070 67 hom nonframeshift deletion chr20 rs66489228 0.64 - 0.5074 exonic DEFB132 Reference - - - - - - - - DEFB132,NM_207469,exon1,c.17_22del,p.6_8del chr20 252085 252096 ACACACACACAC - 3/6(0.67) 247 9 het unknown deletion chr20 rs149825796 - - 0.0858 intronic C20orf96 Reference - - - - - - - - C20orf96 chr20 256760 256760 - A 10/8(0.44) 410 18 het unknown insertion chr20 - 0.16 - 0.2525 intronic C20orf96 Reference - - - - - - - - C20orf96 chr20 259767 259770 GGTT - 6/5(0.45) 203 11 het unknown deletion chr20 - - - 0.0123 intronic C20orf96 Reference - - - - - - - - C20orf96 chr20 270415 270415 C - 19/21(0.53) 818 40 het unknown deletion chr20 rs11478105 0.50 - 0.3946 intronic C20orf96 Reference - - - - - - - - C20orf96 chr20 271135 271135 - C 0/11(1.00) 650 11 hom unknown insertion chr20 rs149567538 0.57 - 0.3627 intronic C20orf96 Reference - - - - - - - - C20orf96 chr20 278688 278690 CGG - 6/7(0.54) 307 13 het nonframeshift deletion chr20 rs5839847 0.81 - 0.4681 exonic ZCCHC3 Reference - - - - - - - - ZCCHC3,NM_033089,exon1,c.461_463del,p.154_155del chr20 334318 334318 C - 0/145(1.00) 3070 145 hom unknown deletion chr20 rs5839855 - - 0.4853 3-UTR NRSN2 Reference - - - - - - - - NRSN2 chr20 741654 741654 G - 10/12(0.55) 407 22 het unknown deletion chr20 rs3215628 0.40 0.096610 0.3652 3-UTR SLC52A3 Reference - - - - - - - - SLC52A3 chr20 865665 865665 C - 0/29(1.00) 1198 29 hom unknown deletion chr20 rs55955946 0.48 - 0.4265 intronic ANGPT4 Reference - - - - - - - - ANGPT4 chr20 1592383 1592383 - TT 33/8(0.20) 157 41 het unknown insertion chr20 rs139926854 - - 0.1176 intronic SIRPB1 Reference - - - - - - - - SIRPB1 chr20 1616817 1616818 GT - 0/48(1.00) 2608 48 hom unknown deletion chr20 rs71964196 0.22 0.264297 0.2206 intronic SIRPG Reference - - - - - - - - SIRPG chr20 1895713 1895713 - AA 22/7(0.24) 313 29 het unknown insertion chr20 - 0.56 - 0.3211 intronic SIRPA Reference - - - - - - - - SIRPA chr20 1896052 1896054 CGA - 30/13(0.30) 550 43 het nonframeshift deletion chr20 rs139878822 - - 0.3162 exonic SIRPA Reference - - - - - - - - SIRPA,NM_080792,exon3,c.387_389del,p.129_130del;SIRPA,NM_001040023,exon2,c.387_389del,p.129_130del;SIRPA,NM_001040022,exon3,c.387_389del,p.129_130del chr20 2411732 2411733 AG - 23/18(0.44) 831 41 het unknown deletion chr20 rs71329366 0.53 - 0.3799 intronic TGM6 Reference - - - - - - - - TGM6 chr20 2596739 2596739 T - 20/11(0.35) 118 31 het unknown deletion chr20 rs35949406 - 0.071417 0.2843 intronic TMC2 Reference - - - - - - - - TMC2 chr20 2597181 2597181 - AG 4/5(0.56) 248 9 het unknown insertion chr20 - - - 0.2304 intronic TMC2 Reference - - - - - - - - TMC2 chr20 2796485 2796485 - CTTTT 48/23(0.32) 1192 71 het unknown insertion chr20 rs3830832 - - 0.3309 upstream;downstream TMEM239;C20orf141 Reference - - - - - - - - C20orf141;TMEM239 chr20 3007694 3007694 - GGT 0/31(1.00) 1885 31 hom unknown insertion chr20 rs10668644 - - 0.4510 intronic PTPRA Reference - - - - - - - - PTPRA chr20 3026345 3026345 - GCCCC 35/6(0.15) 211 41 het frameshift insertion chr20 rs16996832 0.33 - 0.1373 exonic GNRH2 Reference - - - - - - - - GNRH2,NM_178331,exon4,c.305_306insGCCCC,p.E102fs;GNRH2,NM_001501,exon4,c.326_327insGCCCC,p.E109fs;GNRH2,NM_178332,exon4,c.302_303insGCCCC,p.E101fs chr20 3027416 3027416 C - 19/7(0.27) 208 26 het unknown deletion chr20 rs3216762 0.14 0.198523 0.1593 intronic MRPS26 Reference - - - - - - - - MRPS26 chr20 3052951 3052951 - A 9/13(0.59) 713 22 het unknown insertion chr20 rs71331038 0.08 0.174905 0.1054 intronic OXT Reference - - - - - - - - OXT chr20 3202221 3202224 TGGC - 1/4(0.80) 166 5 het unknown deletion chr20 rs33961294 0.61 - 0.2868 intronic ITPA Reference - - - - - - - - ITPA chr20 3212222 3212222 - G 33/24(0.42) 1300 57 het unknown insertion chr20 rs147477986 0.28 0.230788 0.2745 intronic SLC4A11 Reference - - - - - - - - SLC4A11 chr20 3274633 3274633 - G 2/3(0.60) 134 5 het unknown insertion chr20 - 0.20 - 0.1422 intronic C20orf194 Reference - - - - - - - - C20orf194 chr20 3324488 3324491 GTGT - 3/8(0.73) 351 11 het unknown deletion chr20 rs10582105 - - 0.1471 intronic C20orf194 Reference - - - - - - - - C20orf194 chr20 3642220 3642220 T - 2/3(0.60) 79 5 het unknown deletion chr20 rs11338485 - - 0.2475 intronic GFRA4 Reference - - - - - - - - GFRA4 chr20 3642224 3642224 T - 3/3(0.50) 108 6 het unknown deletion chr20 rs11087597 0.79 - 0.2451 intronic GFRA4 Reference - - - - - - - - GFRA4 chr20 3650540 3650540 - CACCACC 2/4(0.67) 194 6 het unknown insertion chr20 rs17513846 - - 0.3162 intronic ADAM33 Reference - - - - - - - - ADAM33 chr20 3674823 3674823 - ACAC het unknown insertion chr20 - - - - intronic SIGLEC1 Reference - - - - - - - - SIGLEC1 chr20 3674822 3674823 AC - 4/7(0.64) 72 11 het unknown deletion chr20 rs11467516 - - 0.0564 intronic SIGLEC1 Reference - - - - - - - - SIGLEC1 chr20 3677095 3677095 - GCTG 2/4(0.67) 194 6 het unknown insertion chr20 rs11471725 - - 0.3554 intronic SIGLEC1 Reference - - - - - - - - SIGLEC1 chr20 3719489 3719490 GT - 1/4(0.80) 163 5 het unknown deletion chr20 rs11468965 - - 0.3113 intronic HSPA12B Reference - - - - - - - - HSPA12B chr20 3740621 3740622 CA - 31/26(0.46) 1206 57 het unknown deletion chr20 rs11470482 - - 0.4485 intronic C20orf27 Reference - - - - - - - - C20orf27 chr20 3778985 3778985 C - 7/3(0.30) 96 10 het unknown deletion chr20 - - - - intronic CDC25B Reference - - - - - - - - CDC25B chr20 4768475 4768475 - AGGGACT 14/13(0.48) 630 27 het unknown insertion chr20 rs111533115 0.61 - 0.4093 intronic RASSF2 Reference - - - - - - - - RASSF2 chr20 4768847 4768847 T - 44/25(0.36) 1133 69 het unknown deletion chr20 rs66613512 0.20 0.101278 0.2328 intronic RASSF2 Reference - - - - - - - - RASSF2 chr20 4880133 4880148 GCTCAATGCCTTCTGC - 7/7(0.50) 304 14 het unknown deletion chr20 rs71993570 0.71 - 0.4730 intronic SLC23A2 Reference - - - - - - - - SLC23A2 chr20 5932846 5932846 - AATG 0/36(1.00) 2153 36 hom unknown insertion chr20 rs113606608 0.28 - 0.2426 intronic MCM8 Reference - - - - - - - - MCM8 chr20 5990726 5990726 - G 3/6(0.67) 308 9 het unknown insertion chr20 rs145756132 - - 0.2770 intronic CRLS1 Reference - - - - - - - - CRLS1 chr20 8665503 8665503 A - 15/15(0.50) 32 30 het unknown deletion chr20 - - - 0.2034 intronic PLCB1 Reference - - - - - - - - PLCB1 chr20 9388801 9388801 G - 5/6(0.55) 195 11 het unknown deletion chr20 rs3830773 0.22 - 0.1838 intronic PLCB4 Reference - - - - - - - - PLCB4 chr20 9389233 9389240 GGTTTGAT - 18/18(0.50) 846 36 het unknown deletion chr20 rs146901498 0.22 0.142526 0.2034 intronic PLCB4 Reference - - - - - - - - PLCB4 chr20 9523178 9523179 AT - 14/8(0.36) 336 22 het unknown deletion chr20 - - - - intronic PAK7 Reference - - - - - - - - PAK7 chr20 10621923 10621923 - T 8/14(0.64) 776 22 het unknown insertion chr20 - 0.23 0.032274 0.2230 intronic JAG1 Reference - - - - - - - - JAG1 chr20 10622081 10622081 A - 9/11(0.55) 151 20 het unknown deletion chr20 rs3215563 - 0.228203 0.1691 intronic JAG1 Reference - - - - - - - - JAG1 chr20 10624924 10624924 - CTCACACA 0/13(1.00) 609 13 hom unknown insertion chr20 - - - 0.0392 intronic JAG1 Reference - - - - - - - - JAG1 chr20 11790885 11790885 - TT 12/6(0.33) 264 18 het unknown insertion chr20 rs3036550 - - 0.3922 intergenic LOC339593;BTBD3 Reference - - - - - - - - LOC339593(dist=536854);BTBD3(dist=80486) chr20 11830181 11830181 T - 7/18(0.72) 296 25 het unknown deletion chr20 rs33956420 - - 0.3701 intergenic LOC339593;BTBD3 Reference - - - - - - - - BTBD3(dist=41190);LOC339593(dist=576150) chr20 13055267 13055267 - A 13/9(0.41) 178 22 het unknown insertion chr20 - 0.19 - 0.2451 intronic SPTLC3 Reference - - - - - - - - SPTLC3 chr20 13071545 13071545 T - 3/5(0.62) 169 8 het unknown deletion chr20 rs60921624 0.45 - 0.3162 intronic SPTLC3 Reference - - - - - - - - SPTLC3 chr20 13269438 13269438 - T 10/8(0.44) 82 18 het unknown insertion chr20 - - - 0.1544 intronic ISM1 Reference - - - - - - - - ISM1 chr20 13789467 13789470 TTTC - 8/6(0.43) 249 14 het unknown deletion chr20 - - - - intronic NDUFAF5 Reference - - - - - - - - NDUFAF5 chr20 16359357 16359357 A - 4/7(0.64) 49 11 het unknown deletion chr20 rs5840714 - - 0.2941 intronic KIF16B Reference - - - - - - - - KIF16B chr20 16729654 16729654 - AGATG 0/40(1.00) 2411 40 hom unknown insertion chr20 rs10627353 - 0.673252 0.4804 intronic OTOR Reference - - - - - - - - OTOR chr20 17489791 17489791 - GGTGG 0/21(1.00) 1279 21 hom unknown insertion chr20 rs111863709 0.46 - 0.3260 intronic BFSP1 Reference - - - - - - - - BFSP1 chr20 18123085 18123085 T - 8/11(0.58) 188 19 het unknown deletion chr20 rs78016265 - - 0.3358 3-UTR CSRP2BP;PET117 Reference - - - - - - - - PET117;CSRP2BP chr20 18287451 18287451 A - 3/5(0.62) 83 8 het unknown deletion chr20 rs11368034 0.19 - 0.0686 intronic ZNF133 Reference - - - - - - - - ZNF133 chr20 18446050 18446050 - TGTGCACTTATAGC 0/13(1.00) 668 13 hom unknown insertion chr20 rs111987137 - - 0.2990 intronic DZANK1 Reference - - - - - - - - DZANK1 chr20 19560556 19560556 A - 1/62(0.98) 3070 63 hom unknown deletion chr20 rs11087288 0.79 - 0.4632 intronic SLC24A3 Reference - - - - - - - - SLC24A3 chr20 19646437 19646440 GTGT - 1/5(0.83) 219 6 het unknown deletion chr20 - - - 0.1078 intronic SLC24A3 Reference - - - - - - - - SLC24A3 chr20 19677616 19677627 AGGGAGGGAGGG - 0/23(1.00) 1197 23 hom unknown deletion chr20 rs113059140 0.66 - 0.3627 intronic SLC24A3 Reference - - - - - - - - SLC24A3 chr20 19867256 19867256 - TTT 5/8(0.62) 59 13 hom unknown insertion chr20 - - - - 5-UTR RIN2 Reference - - - - - - - - RIN2 chr20 20377421 20377421 - C 1/159(0.99) 3070 160 hom unknown insertion chr20 - 0.78 0.818882 0.4314 intronic RALGAPA2 Reference - - - - - - - - RALGAPA2 chr20 20445793 20445793 - CACA 4/3(0.43) 104 7 het unknown insertion chr20 - - - 0.0441 intronic RALGAPA2 Reference - - - - - - - - RALGAPA2 chr20 20609964 20609964 - ACAC 1/8(0.89) 431 9 het unknown insertion chr20 rs11471446 - - 0.1005 intronic RALGAPA2 Reference - - - - - - - - RALGAPA2 chr20 21106714 21106714 - G 13/7(0.35) 318 20 het unknown insertion chr20 rs140602405 0.52 0.537332 0.2451 exonic PLK1S1 Reference - - - - - - - - PLK1S1 chr20 21142454 21142454 - C 25/12(0.32) 434 37 het unknown insertion chr20 rs11482592 - - 0.3211 intronic PLK1S1 Reference - - - - - - - - PLK1S1 chr20 21186161 21186161 - G 0/60(1.00) 3070 60 hom unknown insertion chr20 - - 0.999827 0.4461 exonic PLK1S1 Reference - - - - - - - - PLK1S1 chr20 21307273 21307273 - T 11/18(0.62) 376 29 het unknown insertion chr20 rs200920750 0.04 0.030799 0.0368 intronic XRN2 Reference - - - - - - - - XRN2 chr20 21313109 21313109 - A 6/57(0.90) 1085 63 hom unknown insertion chr20 rs143858204 - - 0.4118 intronic XRN2 Reference - - - - - - - - XRN2 chr20 21328716 21328716 T - 0/14(1.00) 368 14 hom unknown deletion chr20 rs11087351 - - 0.3603 intronic XRN2 Reference - - - - - - - - XRN2 chr20 21362704 21362704 A - 0/82(1.00) 3070 82 hom unknown deletion chr20 rs11476840 0.99 0.862939 0.4730 intronic XRN2 Reference - - - - - - - - XRN2 chr20 23349608 23349608 A - 0/30(1.00) 641 30 hom unknown deletion chr20 rs3833333 - 0.328825 0.2843 intronic GZF1 Reference - - - - - - - - GZF1 chr20 23401905 23401908 CCCC - 0/54(1.00) 891 54 hom unknown deletion chr20 rs200080949 - - 0.2108 intronic NAPB Reference - - - - - - - - NAPB chr20 23531770 23531770 G - 3/6(0.67) 264 9 het unknown deletion chr20 rs5840998 0.53 - 0.2377 intergenic CST13P;CST9L Reference - - - - - - - - CST13P(dist=9115);CST9L(dist=13600) chr20 23615820 23615821 CA - 37/10(0.21) 372 47 het unknown deletion chr20 rs138221112 - - 0.1520 intronic CST3 Reference - - - - - - - - CST3 chr20 23618547 23618547 - GGAGCTAGATAGAGA 7/4(0.36) 178 11 het unknown insertion chr20 rs11467210 0.03 - 0.1127 5-UTR CST3 Reference - - - - - - - - CST3 chr20 23805748 23805748 - AC 15/3(0.17) 94 18 het unknown insertion chr20 rs139344195 - - 0.0392 intronic CST2 Reference - - - - - - - - CST2 chr20 24945080 24945082 GGC - 0/75(1.00) 3070 75 hom unknown deletion chr20 rs10534910 0.92 - 0.4338 intronic APMAP Reference - - - - - - - - APMAP chr20 24954163 24954163 G - 0/11(1.00) 565 11 hom unknown deletion chr20 rs66649227 0.92 - 0.3627 intronic APMAP Reference - - - - - - - - APMAP chr20 25273396 25273396 - G 5/10(0.67) 407 15 het unknown insertion chr20 rs73621608 0.05 - 0.0539 intronic PYGB Reference - - - - - - - - PYGB chr20 25275554 25275559 TTAGTT - 8/7(0.47) 302 15 het unknown deletion chr20 rs145467544 - 0.458007 0.4289 3-UTR ABHD12 Reference - - - - - - - - ABHD12 chr20 25426694 25426694 A - 32/37(0.54) 1796 69 het unknown deletion chr20 rs5841057 0.92 0.445048 0.4363 3-UTR GINS1 Reference - - - - - - - - GINS1 chr20 25442989 25442989 - GGGAGCC 9/3(0.25) 112 12 het unknown insertion chr20 - - 0.368048 0.2353 intronic NINL Reference - - - - - - - - NINL chr20 25442991 25442991 - GGTG 9/3(0.25) 112 12 het unknown insertion chr20 - - - 0.2328 intronic NINL Reference - - - - - - - - NINL chr20 25457050 25457055 CTCCCA - 22/25(0.53) 1199 47 het nonframeshift deletion chr20 rs68078266 0.90 0.421457 0.6446 exonic NINL Reference - - - - - - - - NINL,NM_025176,exon17,c.2872_2877del,p.958_959del chr20 25754119 25754119 - T 23/4(0.15) 121 27 het unknown insertion chr20 rs113637701 - - 0.0172 ncRNA_exonic FAM182B Reference - - - - - - - - FAM182B chr20 26061750 26061750 - TTTTA 10/5(0.33) 227 15 het unknown insertion chr20 rs139789984 - 0.151918 0.1103 ncRNA_intronic FAM182A Reference - - - - - - - - FAM182A chr20 26061783 26061784 TT - 32/5(0.14) 73 37 het unknown deletion chr20 - - - 0.2426 ncRNA_intronic FAM182A Reference - - - - - - - - FAM182A chr20 26061831 26061831 G - 39/5(0.11) 105 44 het unknown deletion chr20 rs78032466 - - 0.2402 ncRNA_exonic FAM182A Reference - - - - - - - - FAM182A chr20 26094476 26094476 C - 71/21(0.23) 844 92 het unknown deletion chr20 - - - 0.1127 ncRNA_intronic NCOR1P1 Reference - - - - - - - - NCOR1P1 chr20 26094484 26094485 AT - 82/19(0.19) 708 101 het unknown deletion chr20 rs146324498 - - 0.0882 ncRNA_intronic NCOR1P1 Reference - - - - - - - - NCOR1P1 chr20 26188745 26188745 - CGGG 7/6(0.46) 299 13 het unknown insertion chr20 - - - 0.0049 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26188797 26188797 - C 5/24(0.83) 1385 29 het unknown insertion chr20 - - - 0.1863 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26188950 26188950 - G 75/162(0.68) 3070 237 het unknown insertion chr20 - - - 0.1985 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26188963 26188963 - G 78/180(0.70) 3070 258 het unknown insertion chr20 - - - 0.2059 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26188994 26188994 - G 79/81(0.51) 3070 160 het unknown insertion chr20 rs142211456 - - 0.1691 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26188995 26188995 - C 78/81(0.51) 3070 159 het unknown insertion chr20 - - - 0.1691 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26189007 26189007 - C 76/87(0.53) 3070 163 het unknown insertion chr20 - - - 0.1814 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26189098 26189098 - G 16/149(0.90) 3070 165 het unknown insertion chr20 - - - 0.2206 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26189210 26189210 - CG 2/38(0.95) 1778 40 hom unknown insertion chr20 - - - 0.1250 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26189216 26189216 - CA 2/4(0.67) 360 6 het unknown insertion chr20 - - - 0.1005 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 26189256 26189256 - A 2/6(0.75) 268 8 het unknown insertion chr20 - - - 0.0147 ncRNA_intronic LOC284801 Reference - - - - - - - - LOC284801 chr20 29623249 29623251 AAG - 2/2(0.50) 58 4 het unknown deletion chr20 rs149713531 - - 0.3578 ncRNA_exonic FRG1B Reference - - - - - - - - FRG1B chr20 29625925 29625925 - TTG 135/89(0.40) 3070 224 het unknown insertion chr20 rs112430454 - - 0.2500 ncRNA_exonic FRG1B Reference - - - - - - - - FRG1B chr20 29626084 29626084 A - 9/2(0.18) 38 11 het unknown deletion chr20 rs71267948 - - 0.2451 ncRNA_intronic FRG1B Reference - - - - - - - - FRG1B chr20 29631237 29631240 TAAC - 1/3(0.75) 113 4 het unknown deletion chr20 rs112329553 - - 0.0147 ncRNA_intronic FRG1B Reference - - - - - - - - FRG1B chr20 29632520 29632520 A - 2/5(0.71) 123 7 het unknown deletion chr20 rs76216438 - - 0.0931 ncRNA_intronic FRG1B Reference - - - - - - - - FRG1B chr20 29632674 29632674 - A 334/98(0.23) 3070 432 het unknown insertion chr20 rs138867112 - - 0.2672 ncRNA_exonic FRG1B Reference - - - - - - - - FRG1B chr20 29632727 29632730 TATT - 170/64(0.27) 2745 234 het unknown deletion chr20 rs138922778 - - 0.1397 ncRNA_intronic FRG1B Reference - - - - - - - - FRG1B chr20 29632828 29632834 ATTTATA - 35/9(0.20) 331 44 het unknown deletion chr20 rs201794202 - - 0.2353 ncRNA_intronic FRG1B Reference - - - - - - - - FRG1B chr20 29633968 29633969 TT - 30/60(0.67) 98 90 het unknown deletion chr20 - - - 0.0025 ncRNA_exonic FRG1B Reference - - - - - - - - FRG1B chr20 29633967 29633969 TTT - 30/60(0.67) 98 90 het unknown deletion chr20 rs61684852 - - 0.0049 ncRNA_exonic FRG1B Reference - - - - - - - - FRG1B chr20 29634103 29634103 C - 4/13(0.76) 514 17 het unknown deletion chr20 rs113531250 - - 0.0809 downstream FRG1B Reference - - - - - - - - FRG1B chr20 29634402 29634402 T - 3/4(0.57) 160 7 het unknown deletion chr20 rs67656346 - - 0.2721 downstream FRG1B Reference - - - - - - - - FRG1B chr20 29637910 29637911 TT - 107/13(0.11) 184 120 het unknown deletion chr20 rs140424489 - - - ncRNA_exonic MLLT10P1 Reference - - - - - - - - MLLT10P1 chr20 29647446 29647449 GGAA - 11/7(0.39) 269 18 het unknown deletion chr20 - - - 0.0368 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - DEFB115(dist=198018);MLLT10P1(dist=9308) chr20 29647457 29647457 - GGAC 11/6(0.35) 286 17 het unknown insertion chr20 - - - 0.0049 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - MLLT10P1(dist=9319);DEFB115(dist=198010) chr20 29647554 29647557 AGAA - 11/4(0.27) 126 15 het unknown deletion chr20 - - - 0.1005 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - DEFB115(dist=197910);MLLT10P1(dist=9416) chr20 29647580 29647580 - AGG 2/6(0.75) 295 8 het unknown insertion chr20 - - - 0.0319 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - DEFB115(dist=197887);MLLT10P1(dist=9442) chr20 29647610 29647612 AGT - 6/3(0.33) 99 9 het unknown deletion chr20 - - - 0.0417 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - DEFB115(dist=197855);MLLT10P1(dist=9472) chr20 29652102 29652102 - T 257/42(0.14) 965 299 het unknown insertion chr20 - - - 0.2255 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - DEFB115(dist=193365);MLLT10P1(dist=13964) chr20 29652356 29652356 T - 14/7(0.33) 284 21 het unknown deletion chr20 rs111401906 - - 0.2525 intergenic MLLT10P1;DEFB115 Reference - - - - - - - - DEFB115(dist=193111);MLLT10P1(dist=14218) chr20 31073620 31073621 AG - 25/36(0.59) 1764 61 het unknown deletion chr20 - - - - intronic C20orf112 Reference - - - - - - - - C20orf112 chr20 31292184 31292184 - ATG 1/5(0.83) 257 6 het unknown insertion chr20 rs138467153 - 0.730294 0.2598 intronic COMMD7 Reference - - - - - - - - COMMD7 chr20 31369137 31369137 C - 0/78(1.00) 3070 78 hom unknown deletion chr20 rs79107572 0.91 0.435703 0.4853 intronic DNMT3B Reference - - - - - - - - DNMT3B chr20 31577583 31577584 AG - 16/15(0.48) 695 31 het unknown deletion chr20 rs141745544 - - 0.4142 intronic SUN5 Reference - - - - - - - - SUN5 chr20 31825436 31825436 - G 16/24(0.60) 1196 40 het unknown insertion chr20 rs137894007 0.18 - 0.2230 intronic BPIFA1 Reference - - - - - - - - BPIFA1 chr20 31825705 31825722 TGTGTGTGTGTGTGTGTG - 8/4(0.33) 127 12 het unknown deletion chr20 - - - 0.0049 intronic BPIFA1 Reference - - - - - - - - BPIFA1 chr20 31826089 31826102 GCAGTGACCCTGAA - 19/13(0.41) 508 32 het unknown deletion chr20 rs36225274 0.17 - 0.2353 intronic BPIFA1 Reference - - - - - - - - BPIFA1 chr20 33053985 33053985 - TT 5/3(0.38) 56 8 het unknown insertion chr20 - - - - intronic ITCH Reference - - - - - - - - ITCH chr20 33057975 33057975 T - 43/25(0.37) 873 68 het unknown deletion chr20 rs10716089 - 0.689377 0.4387 intronic ITCH Reference - - - - - - - - ITCH chr20 33169496 33169499 AGAG - 17/16(0.48) 721 33 het unknown deletion chr20 rs11467128 0.42 0.341348 0.3725 intronic PIGU Reference - - - - - - - - PIGU chr20 33346557 33346558 TC - 11/5(0.31) 188 16 het unknown deletion chr20 rs11468960 0.29 0.360383 0.2083 intronic NCOA6 Reference - - - - - - - - NCOA6 chr20 33575347 33575347 - AT 1/46(0.98) 2799 47 hom unknown insertion chr20 rs3053708 - 0.752653 0.4706 intronic MYH7B Reference - - - - - - - - MYH7B chr20 33587554 33587555 CC - 0/12(1.00) 196 12 hom unknown deletion chr20 - - - 0.4265 intronic MYH7B Reference - - - - - - - - MYH7B chr20 33591197 33591197 - G 0/79(1.00) 3070 79 hom unknown insertion chr20 - 0.78 0.705112 0.4951 intronic TRPC4AP Reference - - - - - - - - TRPC4AP chr20 34055454 34055454 G - 1/3(0.75) 69 4 het unknown deletion chr20 rs5841213 0.25 - 0.2721 intronic CEP250 Reference - - - - - - - - CEP250 chr20 34389531 34389531 C - 19/26(0.58) 1260 45 het unknown deletion chr20 - - - - intronic PHF20 Reference - - - - - - - - PHF20 chr20 34832602 34832603 CT - 39/12(0.24) 471 51 het unknown deletion chr20 rs35283785 0.22 0.194249 0.3137 intronic AAR2 Reference - - - - - - - - AAR2 chr20 35127613 35127613 - T 33/14(0.30) 100 47 het unknown insertion chr20 - - - - intronic DLGAP4 Reference - - - - - - - - DLGAP4 chr20 35747979 35747981 GGG - 14/3(0.18) 44 17 het unknown deletion chr20 - - - 0.0049 intronic MROH8 Reference - - - - - - - - MROH8 chr20 35748009 35748011 AAG - 22/4(0.15) 104 26 het unknown deletion chr20 - - - 0.0074 intronic MROH8 Reference - - - - - - - - MROH8 chr20 35748019 35748019 G - 22/8(0.27) 312 30 het unknown deletion chr20 - - - 0.0196 intronic MROH8 Reference - - - - - - - - MROH8 chr20 35748023 35748029 GGGACAG - 26/9(0.26) 354 35 het unknown deletion chr20 - - - 0.0098 intronic MROH8 Reference - - - - - - - - MROH8 chr20 35828758 35828759 TT - 0/14(1.00) 165 14 hom unknown deletion chr20 - - - 0.2941 intronic RPN2 Reference - - - - - - - - RPN2 chr20 36488509 36488512 CTCA - 0/32(1.00) 1724 32 hom unknown deletion chr20 rs3833308 0.84 - 0.4877 intronic CTNNBL1 Reference - - - - - - - - CTNNBL1 chr20 36774863 36774863 - G 0/26(1.00) 1426 26 hom unknown insertion chr20 - 0.31 - 0.2451 intronic TGM2 Reference - - - - - - - - TGM2 chr20 36937599 36937599 - C 2/4(0.67) 194 6 het unknown insertion chr20 rs150762103 0.04 - 0.0392 intronic BPI Reference - - - - - - - - BPI chr20 36946917 36946917 A - 9/15(0.62) 558 24 het unknown deletion chr20 rs148138176 0.04 0.046965 0.0417 intronic BPI Reference - - - - - - - - BPI chr20 37146132 37146132 T - 11/15(0.58) 75 26 het unknown deletion chr20 - - - 0.0025 intronic RALGAPB Reference - - - - - - - - RALGAPB chr20 37274559 37274559 - A 0/21(1.00) 1213 21 hom unknown insertion chr20 rs11481163 0.61 - 0.3627 intronic ARHGAP40 Reference - - - - - - - - ARHGAP40 chr20 37394796 37394796 T - 8/4(0.33) 110 12 het unknown deletion chr20 rs3215704 0.40 - 0.2892 intronic ACTR5 Reference - - - - - - - - ACTR5 chr20 39813890 39813890 - C 0/17(1.00) 632 17 hom unknown insertion chr20 rs201510231 0.03 - 0.0074 intronic ZHX3 Reference - - - - - - - - ZHX3 chr20 42249479 42249479 - T 14/11(0.44) 158 25 het unknown insertion chr20 rs11483801 - 0.729213 0.3922 intronic IFT52 Reference - - - - - - - - IFT52 chr20 43374840 43374840 C - 8/6(0.43) 197 14 het unknown deletion chr20 rs3834659 0.32 0.303877 0.3284 intronic KCNK15 Reference - - - - - - - - KCNK15 chr20 43625566 43625569 TTGA - 34/17(0.33) 747 51 het unknown deletion chr20 rs149175787 0.20 - 0.2549 intronic STK4 Reference - - - - - - - - STK4 chr20 43964707 43964707 - T 0/13(1.00) 776 13 hom unknown insertion chr20 - 0.39 - 0.2623 intronic SDC4 Reference - - - - - - - - SDC4 chr20 43976869 43976869 - T 7/4(0.36) 179 11 het unknown insertion chr20 rs5841587 0.46 - 0.2721 intronic SDC4 Reference - - - - - - - - SDC4 chr20 43976876 43976876 C - 0/11(1.00) 242 11 hom unknown deletion chr20 rs5841588 - - 0.4167 intronic SDC4 Reference - - - - - - - - SDC4 chr20 43977067 43977067 C - 13/21(0.62) 752 34 het unknown deletion chr20 rs17173360 0.44 0.096990 0.2843 upstream SDC4 Reference - - - - - - - - SDC4 chr20 44004156 44004158 ATT - 13/11(0.46) 495 24 het nonframeshift deletion chr20 rs10546815 0.27 0.510310 0.3260 exonic TP53TG5 Reference - - - - - - - - TP53TG5,NM_014477,exon4,c.289_291del,p.97_97del chr20 44141206 44141207 CA - 0/6(1.00) 219 6 het unknown deletion chr20 - - - - 3-UTR SPINT3 Reference - - - - - - - - SPINT3 chr20 44141202 44141207 CACACA - 0/6(1.00) 219 6 het unknown deletion chr20 rs201209920 - - 0.1740 3-UTR SPINT3 Reference - - - - - - - - SPINT3 chr20 44333327 44333327 T - 0/20(1.00) 208 20 hom unknown deletion chr20 rs11361717 - - 0.3652 intronic WFDC10B;WFDC13 Reference - - - - - - - - WFDC13;WFDC10B chr20 44588767 44588767 G - 3/4(0.57) 160 7 het unknown deletion chr20 rs59602820 0.09 - 0.0931 intronic ZNF335 Reference - - - - - - - - ZNF335 chr20 44597959 44597959 G - 1/3(0.75) 76 4 het unknown deletion chr20 rs60279086 0.09 - 0.0662 intronic ZNF335 Reference - - - - - - - - ZNF335 chr20 44638963 44638963 - C 6/5(0.45) 242 11 het unknown insertion chr20 rs111673386 - - 0.1446 intronic MMP9 Reference - - - - - - - - MMP9 chr20 44641735 44641737 AAG - 5/4(0.44) 154 9 het unknown deletion chr20 rs201904714 0.20 - 0.2402 intronic MMP9 Reference - - - - - - - - MMP9 chr20 45192253 45192253 - A 0/19(1.00) 878 19 hom unknown insertion chr20 - - - 0.2892 intronic SLC13A3 Reference - - - - - - - - SLC13A3 chr20 45192254 45192254 - AGAGA 1/6(0.86) 131 7 het unknown insertion chr20 - - - 0.0221 intronic SLC13A3 Reference - - - - - - - - SLC13A3 chr20 45192254 45192254 - AGAGAGA 1/6(0.86) 131 7 het unknown insertion chr20 - - - 0.2549 intronic SLC13A3 Reference - - - - - - - - SLC13A3 chr20 45229029 45229032 GAAA - 0/34(1.00) 1835 34 hom unknown deletion chr20 rs139896803 0.30 - 0.2279 intronic SLC13A3 Reference - - - - - - - - SLC13A3 chr20 45353514 45353514 - GGATGGAT 1/3(0.75) 138 4 het unknown insertion chr20 rs139655963 - - 0.3211 intronic SLC2A10 Reference - - - - - - - - SLC2A10 chr20 45877537 45877538 CA - 2/3(0.60) 111 5 het unknown deletion chr20 rs144172676 0.16 - 0.1029 intronic ZMYND8 Reference - - - - - - - - ZMYND8 chr20 46311719 46311719 - G 37/39(0.51) 1505 76 het unknown insertion chr20 rs112365642 0.11 - 0.2108 intronic SULF2 Reference - - - - - - - - SULF2 chr20 47276639 47276639 - T 42/39(0.48) 2172 81 het unknown insertion chr20 rs11086257 0.37 0.249681 0.3137 intronic PREX1 Reference - - - - - - - - PREX1 chr20 47628368 47628368 - TG 43/37(0.46) 2038 80 het unknown insertion chr20 rs147351722 - - 0.1152 intronic ARFGEF2 Reference - - - - - - - - ARFGEF2 chr20 47645002 47645002 - T 8/11(0.58) 596 19 het unknown insertion chr20 rs73623293 0.19 - 0.1740 intronic ARFGEF2 Reference - - - - - - - - ARFGEF2 chr20 47775474 47775474 - C 17/10(0.37) 281 27 het unknown insertion chr20 rs11481554 - - 0.2843 intronic STAU1 Reference - - - - - - - - STAU1 chr20 47859251 47859251 A - 23/5(0.18) 141 28 het unknown deletion chr20 - - - - intronic DDX27 Reference - - - - - - - - DDX27 chr20 48429316 48429316 - GACGGAGG 9/7(0.44) 352 16 het unknown insertion chr20 rs11281224 - - 0.1985 5-UTR SLC9A8 Reference - - - - - - - - SLC9A8 chr20 48439582 48439582 - T 9/6(0.40) 83 15 het unknown insertion chr20 rs200132126 0.08 - 0.0784 intronic SLC9A8 Reference - - - - - - - - SLC9A8 chr20 48479357 48479360 ATGA - 2/5(0.71) 215 7 het unknown deletion chr20 rs3092598 - - 0.3260 intronic SLC9A8 Reference - - - - - - - - SLC9A8 chr20 48562083 48562083 - TTGGACACC 19/8(0.30) 380 27 het unknown insertion chr20 rs11473738 - - 0.4240 intronic RNF114 Reference - - - - - - - - RNF114 chr20 48760239 48760240 TT - 5/10(0.67) 88 15 het unknown deletion chr20 rs143446634 - - 0.1765 intronic TMEM189;TMEM189-UBE2V1 Reference - - - - - - - - TMEM189;TMEM189-UBE2V1 chr20 49194866 49194866 - T 33/19(0.37) 1000 52 het unknown insertion chr20 rs3215684 0.71 - 0.4142 intronic PTPN1 Reference - - - - - - - - PTPN1 chr20 50015301 50015301 A - 24/12(0.33) 93 36 het unknown deletion chr20 rs11478012 - - 0.2892 intronic NFATC2 Reference - - - - - - - - NFATC2 chr20 50286484 50286484 - A 1/47(0.98) 970 48 hom unknown insertion chr20 rs145158329 - - 0.3897 intronic ATP9A Reference - - - - - - - - ATP9A chr20 50310483 50310483 - TC 0/57(1.00) 3070 57 hom unknown insertion chr20 rs201571375 0.66 - 0.3799 intronic ATP9A Reference - - - - - - - - ATP9A chr20 50313790 50313790 - TG 2/7(0.78) 374 9 het unknown insertion chr20 rs74175568 - - 0.3260 intronic ATP9A Reference - - - - - - - - ATP9A chr20 50713653 50713653 A - 87/75(0.46) 1186 162 het unknown deletion chr20 rs10715971 - 0.647623 0.3750 intronic ZFP64 Reference - - - - - - - - ZFP64 chr20 52557949 52557949 - TT 5/6(0.55) 306 11 het unknown insertion chr20 - 0.17 0.169814 0.1569 intergenic SUMO1P1;BCAS1 Reference - - - - - - - - BCAS1(dist=2130);SUMO1P1(dist=65701) chr20 52557950 52557950 - GTGTGCGCGCGC 2/9(0.82) 473 11 het unknown insertion chr20 - - - - intergenic SUMO1P1;BCAS1 Reference - - - - - - - - BCAS1(dist=2129);SUMO1P1(dist=65702) chr20 52611427 52611427 - ACACAC 0/12(1.00) 713 12 hom unknown insertion chr20 - - - 0.0833 intronic BCAS1 Reference - - - - - - - - BCAS1 chr20 55048496 55048496 - GAG 0/37(1.00) 2287 37 hom unknown insertion chr20 rs11471796 0.99 0.804633 0.4069 intronic RTFDC1 Reference - - - - - - - - RTFDC1 chr20 56089870 56089870 T - 37/36(0.49) 364 73 het unknown deletion chr20 - - - 0.4681 intronic CTCFL Reference - - - - - - - - CTCFL chr20 56098071 56098071 A - 13/14(0.52) 442 27 het unknown deletion chr20 rs11477755 - - 0.3113 intronic CTCFL Reference - - - - - - - - CTCFL chr20 56191173 56191174 AG - 0/103(1.00) 3070 103 hom unknown deletion chr20 rs68090526 0.98 - 0.4216 intronic ZBP1 Reference - - - - - - - - ZBP1 chr20 56929121 56929123 TCA - 26/14(0.35) 614 40 het unknown deletion chr20 - - - 0.0025 intronic RAB22A Reference - - - - - - - - RAB22A chr20 57293124 57293124 - G 44/39(0.47) 2166 83 het unknown insertion chr20 rs113568125 0.44 - 0.4069 intergenic STX16-NPEPL1;MIR296 Reference - - - - - - - - STX16-NPEPL1(dist=2224);MIR296(dist=99546) chr20 58883399 58883399 - T 29/17(0.37) 892 46 het unknown insertion chr20 rs11408280 0.15 - 0.0956 ncRNA_intronic LOC284757 Reference - - - - - - - - LOC284757 chr20 60498832 60498832 - C 1/21(0.95) 1028 22 hom unknown insertion chr20 rs11484270 0.85 - 0.4534 intronic CDH4 Reference - - - - - - - - CDH4 chr20 60712175 60712180 AGCAGT - 4/5(0.56) 198 9 het unknown deletion chr20 rs3078903 0.79 - 0.3505 intronic PSMA7 Reference - - - - - - - - PSMA7 chr20 60740585 60740586 TG - 45/40(0.47) 1928 85 het unknown deletion chr20 rs60919036 - - 0.1740 intronic SS18L1 Reference - - - - - - - - SS18L1 chr20 60740588 60740600 GTGCTGGGCTCGA - 44/40(0.48) 1916 84 het unknown deletion chr20 - - 0.090459 0.1397 intronic SS18L1 Reference - - - - - - - - SS18L1 chr20 60904422 60904426 CAGCC - 0/14(1.00) 706 14 hom unknown deletion chr20 rs3065756 - - 0.4020 intronic LAMA5 Reference - - - - - - - - LAMA5 chr20 61167632 61167632 - TTT 18/7(0.28) 49 25 het unknown insertion chr20 rs146702944 - - 0.1324 intronic C20orf166 Reference - - - - - - - - C20orf166 chr20 61441059 61441060 AG - 33/12(0.27) 488 45 het unknown deletion chr20 rs139250120 - 0.022815 0.2304 intronic OGFR Reference - - - - - - - - OGFR chr20 61473270 61473270 - T 3/5(0.62) 251 8 het unknown insertion chr20 rs80185425 0.13 - 0.1103 3-UTR TCFL5 Reference - - - - - - - - TCFL5 chr20 61538391 61538391 C - 5/5(0.50) 113 10 het unknown deletion chr20 rs11479019 0.31 - 0.2745 intronic DIDO1 Reference - - - - - - - - DIDO1 chr20 61597947 61597947 T - 0/174(1.00) 3070 174 hom unknown deletion chr20 rs5842409 0.99 0.787201 0.5245 intronic SLC17A9 Reference - - - - - - - - SLC17A9 chr20 61870605 61870605 - G 0/32(1.00) 1765 32 hom unknown insertion chr20 rs5842415 0.86 0.608657 0.4338 intronic BIRC7 Reference - - - - - - - - BIRC7 chr20 61943917 61943917 C - 7/5(0.42) 200 12 het unknown deletion chr20 rs3833299 - 0.240963 0.3382 intronic COL20A1 Reference - - - - - - - - COL20A1 chr20 61951327 61951327 T - 0/31(1.00) 1401 31 hom unknown deletion chr20 rs11478836 - - 0.4632 intronic COL20A1 Reference - - - - - - - - COL20A1 chr20 61960763 61960764 TG - 17/4(0.19) 118 21 het unknown deletion chr20 rs5842416 0.59 - 0.3652 intronic COL20A1 Reference - - - - - - - - COL20A1 chr20 62046496 62046496 - GACAGACA 0/105(1.00) 3070 105 hom unknown insertion chr20 rs112006486 - - 0.4608 intronic KCNQ2 Reference - - - - - - - - KCNQ2 chr20 62076856 62076856 - CCCCAAAGGG 4/7(0.64) 336 11 het unknown insertion chr20 rs11473292 0.51 - 0.3235 intronic KCNQ2 Reference - - - - - - - - KCNQ2 chr20 62571418 62571418 G - 14/21(0.60) 221 35 het unknown deletion chr20 rs35264801 - - 0.3603 intronic UCKL1 Reference - - - - - - - - UCKL1 chr21 10935165 10935166 TG - 15/3(0.17) 72 18 het unknown deletion chr21 rs60147000 - - 0.2819 intronic TPTE Reference - - - - - - - - TPTE chr21 10941785 10941785 T - 40/10(0.20) 104 50 het unknown deletion chr21 rs60630159 - - 0.3162 intronic TPTE Reference - - - - - - - - TPTE chr21 10944829 10944831 AAG - 48/11(0.19) 393 59 het unknown deletion chr21 rs146327494 - - 0.3260 intronic TPTE Reference - - - - - - - - TPTE chr21 10969895 10969898 ATGG - 37/6(0.14) 162 43 het unknown deletion chr21 - - - 0.0319 intronic TPTE Reference - - - - - - - - TPTE chr21 11058404 11058404 - CT 9/15(0.62) 833 24 het unknown insertion chr21 rs113443682 - - 0.4191 intronic BAGE;BAGE2;BAGE3;BAGE4;BAGE5 Reference - - - - - - - - BAGE2;BAGE5;BAGE4;BAGE;BAGE3 chr21 11097184 11097185 TG - 9/3(0.25) 90 12 het unknown deletion chr21 - - - 0.0294 intronic BAGE;BAGE2;BAGE3;BAGE4;BAGE5 Reference - - - - - - - - BAGE2;BAGE5;BAGE4;BAGE;BAGE3 chr21 15663778 15663785 GTGTGTGT - 12/14(0.54) 655 26 het unknown deletion chr21 rs148015529 - - 0.1201 ncRNA_intronic ABCC13 Reference - - - - - - - - ABCC13 chr21 15884974 15884974 - AAG 7/6(0.46) 299 13 het unknown insertion chr21 rs10679308 0.29 - 0.2549 intronic SAMSN1 Reference - - - - - - - - SAMSN1 chr21 18931665 18931665 T - 0/11(1.00) 208 11 hom unknown deletion chr21 rs58736212 - - 0.2083 intronic CXADR Reference - - - - - - - - CXADR chr21 18966725 18966728 ACAA - 8/5(0.38) 197 13 het unknown deletion chr21 rs5842649 - - 0.3480 intronic BTG3 Reference - - - - - - - - BTG3 chr21 19744416 19744417 TG - 9/2(0.18) 38 11 het unknown deletion chr21 - - - 0.0221 intronic TMPRSS15 Reference - - - - - - - - TMPRSS15 chr21 22658545 22658551 TTTGTGA - 0/27(1.00) 1448 27 hom unknown deletion chr21 rs148541112 0.84 0.763342 0.3676 intronic NCAM2 Reference - - - - - - - - NCAM2 chr21 22696882 22696882 G - 0/54(1.00) 2269 54 hom unknown deletion chr21 rs11334381 0.99 - 0.4730 intronic NCAM2 Reference - - - - - - - - NCAM2 chr21 26959987 26959990 ATGA - 0/55(1.00) 2995 55 hom unknown deletion chr21 rs67668070 0.43 0.063179 0.3358 intronic MRPL39 Reference - - - - - - - - MRPL39 chr21 26973663 26973663 - TATACT 1/62(0.98) 3070 63 hom unknown insertion chr21 rs140202502 0.70 - 0.3971 intronic MRPL39 Reference - - - - - - - - MRPL39 chr21 27101900 27101900 T - 5/13(0.72) 486 18 het unknown deletion chr21 rs3216073 0.37 0.257756 0.2623 intronic ATP5J Reference - - - - - - - - ATP5J chr21 27382362 27382362 - G 0/97(1.00) 3070 97 hom unknown insertion chr21 - - - 0.4020 intronic APP Reference - - - - - - - - APP chr21 28215826 28215826 - ACA 54/14(0.21) 634 68 het unknown insertion chr21 - - - 0.2574 intronic ADAMTS1 Reference - - - - - - - - ADAMTS1 chr21 28215837 28215837 C - 52/21(0.29) 719 73 het unknown deletion chr21 rs3838077 0.41 - 0.2843 intronic ADAMTS1 Reference - - - - - - - - ADAMTS1 chr21 30303389 30303392 GTGT - 9/5(0.36) 194 14 het unknown deletion chr21 rs67223274 - - 0.2917 intronic LTN1 Reference - - - - - - - - LTN1 chr21 30316927 30316928 AC - 41/24(0.37) 1068 65 het unknown deletion chr21 rs200724790 - 0.013740 0.0098 intronic LTN1 Reference - - - - - - - - LTN1 chr21 30338293 30338293 - C 0/26(1.00) 1594 26 hom unknown insertion chr21 rs5843357 - 0.999085 0.3873 intronic LTN1 Reference - - - - - - - - LTN1 chr21 30464623 30464623 - ACTCCAGTTTATAGG 5/5(0.50) 245 10 het unknown insertion chr21 rs147901306 - - 0.1887 intronic MAP3K7CL Reference - - - - - - - - MAP3K7CL chr21 30532147 30532147 A - 0/11(1.00) 100 11 het unknown deletion chr21 rs66780570 - - 0.3529 intronic MAP3K7CL Reference - - - - - - - - MAP3K7CL chr21 31026967 31026967 - AAAG 1/35(0.97) 2119 36 hom unknown insertion chr21 rs10637196 - - 0.3064 intronic GRIK1 Reference - - - - - - - - GRIK1 chr21 31311532 31311535 AGTG - 2/4(0.67) 163 6 het unknown deletion chr21 - - - - intronic GRIK1 Reference - - - - - - - - GRIK1 chr21 31913982 31913982 G - 0/156(1.00) 3070 156 hom frameshift deletion chr21 rs146186553 0.71 0.765415 0.5809 exonic KRTAP19-6 Reference - - - - - - - - KRTAP19-6,NM_181612,exon1,c.171delC,p.F57fs chr21 33691502 33691502 - C 0/22(1.00) 958 22 hom unknown insertion chr21 rs113188087 - 0.996063 0.4583 intronic URB1 Reference - - - - - - - - URB1 chr21 33984568 33984608 GGTACTGAGGCGTTGAGAAGGCCCCGGCTGCGTGGCCCGCG - 5/6(0.55) 246 11 het unknown deletion chr21 - - - 0.0123 5-UTR C21orf59 Reference - - - - - - - - C21orf59 chr21 34003928 34003928 - AGTATT 0/116(1.00) 3070 116 hom nonframeshift insertion chr21 rs71640263 - 0.561342 0.4902 exonic SYNJ1 Reference - - - - - - - - SYNJ1,NM_001160306,exon28,c.3957_3958insAATACT,p.L1320delinsNTL;SYNJ1,NM_003895,exon32,c.4215_4216insAATACT,p.L1406delinsNTL chr21 34050940 34050940 A - 0/38(1.00) 2056 38 hom unknown deletion chr21 rs201012663 0.40 - 0.3039 intronic SYNJ1 Reference - - - - - - - - SYNJ1 chr21 34050942 34050942 A - 0/38(1.00) 1655 38 hom unknown deletion chr21 rs150500694 0.40 0.420409 0.3113 intronic SYNJ1 Reference - - - - - - - - SYNJ1 chr21 34157236 34157236 T - 1/20(0.95) 281 21 hom unknown deletion chr21 rs35174687 - - 0.3725 ncRNA_intronic C21orf49 Reference - - - - - - - - C21orf49 chr21 34169317 34169317 - T 0/56(1.00) 3070 56 hom unknown insertion chr21 rs79751775 - - 0.5123 ncRNA_exonic C21orf49 Reference - - - - - - - - C21orf49 chr21 34538065 34538065 - T 0/34(1.00) 1990 34 hom unknown insertion chr21 - - - 0.3946 ncRNA_intronic C21orf54 Reference - - - - - - - - C21orf54 chr21 34540594 34540594 - T 0/18(1.00) 1091 18 hom unknown insertion chr21 rs11379155 - - 0.3995 ncRNA_intronic C21orf54 Reference - - - - - - - - C21orf54 chr21 34697197 34697197 - GTGTGTGTGTGTGTGT 4/4(0.50) 187 8 het unknown insertion chr21 - - - 0.0270 upstream IFNAR1 Reference - - - - - - - - IFNAR1 chr21 34948684 34948684 - A 0/17(1.00) 1028 17 hom frameshift insertion chr21 rs143944876 - 0.999520 0.4657 exonic SON Reference - - - - - - - - SON,NM_138927,exon12,c.7236dupA,p.G2412fs chr21 34948697 34948697 A - 0/16(1.00) 841 16 hom frameshift deletion chr21 rs34373121 - - 0.4804 exonic SON Reference - - - - - - - - SON,NM_138927,exon12,c.7248delA,p.R2416fs chr21 35134084 35134084 - C 0/36(1.00) 1991 36 hom unknown insertion chr21 rs11463632 - - 0.3995 intronic ITSN1 Reference - - - - - - - - ITSN1 chr21 35189985 35189985 - TT 1/3(0.75) 137 4 het unknown insertion chr21 - 0.30 - 0.1814 intronic ITSN1 Reference - - - - - - - - ITSN1 chr21 35467373 35467373 C - 0/13(1.00) 538 13 hom unknown deletion chr21 rs11295804 - - 0.3971 5-UTR SLC5A3 Reference - - - - - - - - SLC5A3 chr21 35467473 35467473 G - 0/61(1.00) 3070 61 hom unknown deletion chr21 rs11295803 0.99 - 0.5147 5-UTR SLC5A3 Reference - - - - - - - - SLC5A3 chr21 35772295 35772295 - C 11/19(0.63) 1066 30 het unknown insertion chr21 rs113864826 0.20 - 0.2574 downstream C21orf140 Reference - - - - - - - - C21orf140 chr21 36079736 36079737 CA - 1/2(0.67) 61 3 het unknown deletion chr21 - - - 0.0147 intronic CLIC6 Reference - - - - - - - - CLIC6 chr21 36422290 36422290 - ACAC het unknown insertion chr21 - - - - upstream RUNX1 Reference - - - - - - - - RUNX1 chr21 36422283 36422290 ACACACAC - 6/6(0.50) 256 12 het unknown deletion chr21 rs200347085 - - 0.1446 upstream RUNX1 Reference - - - - - - - - RUNX1 chr21 37619931 37619931 - T 19/17(0.47) 225 36 het unknown insertion chr21 rs11382621 - - 0.3456 intronic DOPEY2 Reference - - - - - - - - DOPEY2 chr21 37649156 37649158 AAG - 5/3(0.38) 103 8 het unknown deletion chr21 - - - - intronic DOPEY2 Reference - - - - - - - - DOPEY2 chr21 38072579 38072579 - T 2/4(0.67) 84 6 het unknown insertion chr21 rs112671093 0.78 - 0.2598 intronic SIM2 Reference - - - - - - - - SIM2 chr21 38495185 38495185 - T 0/19(1.00) 1154 19 hom unknown insertion chr21 rs11440324 - - 0.3407 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38495213 38495213 - A 0/21(1.00) 1144 21 hom unknown insertion chr21 rs11440325 - 0.999920 0.3725 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38495270 38495270 - T 0/30(1.00) 1846 30 hom unknown insertion chr21 rs11440326 - - 0.3971 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38528873 38528873 G - 0/15(1.00) 656 15 hom unknown deletion chr21 rs10706050 - - 0.3456 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38532059 38532059 G - 0/27(1.00) 1214 27 hom unknown deletion chr21 rs34771928 - - 0.3922 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38532068 38532068 - A 0/22(1.00) 1272 22 hom unknown insertion chr21 rs113972351 - 0.999342 0.3725 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38532087 38532087 G - 0/26(1.00) 1393 26 hom unknown deletion chr21 rs34586966 - - 0.3922 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38539836 38539836 - A 0/34(1.00) 2097 34 hom unknown insertion chr21 rs5843803 - - 0.4020 intronic TTC3 Reference - - - - - - - - TTC3 chr21 38592451 38592451 - G 0/17(1.00) 918 17 hom unknown insertion chr21 - 0.99 - 0.3750 ncRNA_intronic DSCR9 Reference - - - - - - - - DSCR9 chr21 38599935 38599935 G - 0/36(1.00) 1565 36 hom unknown deletion chr21 rs11300896 - - 0.5490 intronic DSCR3 Reference - - - - - - - - DSCR3 chr21 38600155 38600155 G - 0/19(1.00) 770 19 hom unknown deletion chr21 rs10716173 - - 0.5294 intronic DSCR3 Reference - - - - - - - - DSCR3 chr21 40250763 40250763 A - 31/18(0.37) 807 49 het unknown deletion chr21 rs5843936 0.80 - 0.4706 intergenic ETS2;PSMG1 Reference - - - - - - - - PSMG1(dist=296609);ETS2(dist=53885) chr21 40585331 40585352 AAGCCAACATTTTCTTCACTTT - 9/9(0.50) 402 18 het unknown deletion chr21 rs142696785 0.40 - 0.2230 intronic BRWD1 Reference - - - - - - - - BRWD1 chr21 40597215 40597215 - AAG 10/7(0.41) 349 17 het unknown insertion chr21 rs139986112 - - 0.3407 intronic BRWD1 Reference - - - - - - - - BRWD1 chr21 40646231 40646232 GA - 49/8(0.14) 229 57 het unknown deletion chr21 rs56135543 - - 0.1373 intronic BRWD1 Reference - - - - - - - - BRWD1 chr21 40717036 40717039 CACA - 3/3(0.50) 108 6 het unknown deletion chr21 rs72349214 - - 0.2304 intronic HMGN1 Reference - - - - - - - - HMGN1 chr21 40880882 40880886 TTGAA - 13/7(0.35) 287 20 het unknown deletion chr21 rs138818478 0.68 0.367527 0.3603 intronic SH3BGR Reference - - - - - - - - SH3BGR chr21 40883671 40883671 - AGA 10/13(0.57) 710 23 het nonframeshift insertion chr21 rs75027626 - 0.551597 0.5515 exonic SH3BGR Reference - - - - - - - - SH3BGR,NM_001001713,exon6,c.356_357insAGA,p.G119delinsGE;SH3BGR,NM_007341,exon6,c.689_690insAGA,p.G230delinsGE chr21 41137458 41137458 C - 41/42(0.51) 1666 83 het unknown deletion chr21 rs11308937 0.17 0.079952 0.2500 intronic IGSF5 Reference - - - - - - - - IGSF5 chr21 41514689 41514689 A - 0/21(1.00) 935 21 hom unknown deletion chr21 rs35155500 0.77 - 0.4289 intronic DSCAM Reference - - - - - - - - DSCAM chr21 41949383 41949383 - C 0/24(1.00) 922 24 hom unknown insertion chr21 - 0.46 - 0.2819 intronic DSCAM Reference - - - - - - - - DSCAM chr21 42775179 42775179 - T 1/34(0.97) 2044 35 hom unknown insertion chr21 - - - 0.3505 intronic MX2 Reference - - - - - - - - MX2 chr21 42813933 42813933 - GTGTGT 5/5(0.50) 223 10 het unknown insertion chr21 - - - 0.0074 intronic MX1 Reference - - - - - - - - MX1 chr21 43243830 43243830 - G 9/12(0.57) 512 21 het unknown insertion chr21 - 0.22 0.020426 0.2672 intronic PRDM15 Reference - - - - - - - - PRDM15 chr21 43529548 43529548 - G 0/29(1.00) 1783 29 hom unknown insertion chr21 rs35742122 0.57 - 0.4191 intronic UMODL1 Reference - - - - - - - - UMODL1 chr21 43543114 43543114 - CCAT 100/94(0.48) 3070 194 het frameshift insertion chr21 rs138728872 0.03 - 0.0343 exonic UMODL1 Reference - - - - - - - - UMODL1,NM_001004416,exon17,c.3001_3002insCCAT,p.A1001fs;UMODL1,NM_173568,exon16,c.3385_3386insCCAT,p.A1129fs;UMODL1,NM_001199527,exon16,c.3169_3170insCCAT,p.A1057fs;UMODL1,NM_001199528,exon17,c.2785_2786insCCAT,p.A929fs chr21 43708431 43708431 - C 21/16(0.43) 753 37 het unknown insertion chr21 rs140023025 0.34 0.334265 0.2966 intronic ABCG1 Reference - - - - - - - - ABCG1 chr21 43720513 43720514 AT - 23/7(0.23) 229 30 het unknown deletion chr21 rs72117495 0.31 - 0.2745 intergenic ABCG1;TFF3 Reference - - - - - - - - TFF3(dist=11263);ABCG1(dist=3159) chr21 43803308 43803308 - TA 0/57(1.00) 3070 57 hom splicing insertion chr21 rs56283966 0.33 0.090895 0.3064 splicing TMPRSS3 Reference - - - - - - - - NM_032404,exon6,c.236-1->TA;NM_032405,exon9,c.617-1->TA);NM_024022,exon9,c.617-1->TA;TMPRSS3(NM_001256317,exon9,c.617-1->TA chr21 43986117 43986117 - C 34/32(0.48) 1675 66 het unknown insertion chr21 rs144728115 0.17 - 0.1667 intronic SLC37A1 Reference - - - - - - - - SLC37A1 chr21 44180867 44180867 C - 3/10(0.77) 251 13 het unknown deletion chr21 rs34765923 - - 0.0221 intronic PDE9A Reference - - - - - - - - PDE9A chr21 44282861 44282869 TTGCCTTCC - 6/5(0.45) 203 11 het unknown deletion chr21 rs142327311 0.33 - 0.2034 intronic WDR4 Reference - - - - - - - - WDR4 chr21 44424689 44424689 - A 0/17(1.00) 562 17 hom unknown insertion chr21 - - - 0.3652 intronic PKNOX1 Reference - - - - - - - - PKNOX1 chr21 45111512 45111512 - T 3/3(0.50) 78 6 het unknown insertion chr21 - - - 0.1348 intronic RRP1B Reference - - - - - - - - RRP1B chr21 45220626 45220626 - C 0/13(1.00) 734 13 hom unknown insertion chr21 rs5844162 0.71 - 0.3848 intronic RRP1 Reference - - - - - - - - RRP1 chr21 45514142 45514142 G - 0/11(1.00) 399 11 hom unknown deletion chr21 rs11287102 - 0.999680 0.4093 intronic TRAPPC10 Reference - - - - - - - - TRAPPC10 chr21 45538513 45538513 G - 5/3(0.38) 76 8 het unknown deletion chr21 rs5844173 0.70 0.645428 0.3603 intronic PWP2 Reference - - - - - - - - PWP2 chr21 45650008 45650008 - C 11/14(0.56) 765 25 het unknown insertion chr21 rs145424134 0.48 0.269967 0.3480 intronic ICOSLG Reference - - - - - - - - ICOSLG chr21 45726499 45726499 - G 13/9(0.41) 355 22 het unknown insertion chr21 rs111498206 - - 0.2868 intronic PFKL Reference - - - - - - - - PFKL chr21 45742947 45742960 CGGACGAAAAAGCC - 1/33(0.97) 1717 34 hom unknown deletion chr21 rs144922406 0.35 0.160010 0.3456 intronic PFKL Reference - - - - - - - - PFKL chr21 45789011 45789011 - G 0/21(1.00) 1201 21 hom unknown insertion chr21 rs79090937 - 0.999678 0.5000 intronic TRPM2 Reference - - - - - - - - TRPM2 chr21 45815574 45815574 G - 0/13(1.00) 538 13 hom unknown deletion chr21 rs67099101 - - 0.3456 intronic TRPM2 Reference - - - - - - - - TRPM2 chr21 45960119 45960119 - TGAC 9/3(0.25) 112 12 het unknown insertion chr21 rs141929687 0.03 - 0.0490 intronic TSPEAR Reference - - - - - - - - TSPEAR chr21 45970760 45970774 CTTGCAGCAGACAGG - 43/44(0.51) 2107 87 het nonframeshift deletion chr21 rs67692969 0.37 0.169596 0.4657 exonic KRTAP10-2 Reference - - - - - - - - KRTAP10-2,NM_198693,exon1,c.568_582del,p.190_194del chr21 45971397 45971408 GTGAGTGTGTGA - 1/6(0.86) 243 7 het unknown deletion chr21 - - - - intronic TSPEAR Reference - - - - - - - - TSPEAR chr21 46020473 46020473 - TCAT 0/30(1.00) 1776 30 hom unknown insertion chr21 rs113686885 - - 0.4975 intronic TSPEAR Reference - - - - - - - - TSPEAR chr21 46308850 46308850 - G 13/5(0.28) 133 18 het unknown insertion chr21 - 0.35 0.054348 0.2770 intronic ITGB2 Reference - - - - - - - - ITGB2 chr21 46554604 46554604 - T 10/18(0.64) 80 28 hom unknown insertion chr21 rs11369444 - - 0.1912 intronic ADARB1 Reference - - - - - - - - ADARB1 chr21 46602484 46602484 T - 35/20(0.36) 104 55 het unknown deletion chr21 - - - 0.0319 intronic ADARB1 Reference - - - - - - - - ADARB1 chr21 46624435 46624435 A - 8/5(0.38) 197 13 het unknown deletion chr21 rs3215898 0.14 0.147843 0.1716 intronic ADARB1 Reference - - - - - - - - ADARB1 chr21 46685561 46685593 TCACAGAGGTTCCAGAGTCAGGGAGAACTGGCG - 12/14(0.54) 614 26 het unknown deletion chr21 - - - 0.1103 3-UTR POFUT2 Reference - - - - - - - - POFUT2 chr21 46895660 46895661 GT - 1/3(0.75) 114 4 het unknown deletion chr21 rs76610230 0.22 - 0.1691 intronic COL18A1 Reference - - - - - - - - COL18A1 chr21 46912658 46912658 - CCCGCCACTGCCCT 6/5(0.45) 241 11 het unknown insertion chr21 rs11270246 0.45 0.464076 0.2721 intronic COL18A1 Reference - - - - - - - - COL18A1 chr21 46916517 46916517 C - 2/7(0.78) 246 9 het unknown deletion chr21 rs5844240 0.36 0.490014 0.3211 intronic COL18A1 Reference - - - - - - - - COL18A1 chr21 46927371 46927412 GGGAGGGCCAGGTGCTGGGGCGGGAGAGTCGGGTGCTGGGCA - 3/4(0.57) 122 7 het unknown deletion chr21 - - - 0.1275 intronic COL18A1 Reference - - - - - - - - COL18A1 chr21 46929523 46929523 C - 3/5(0.62) 101 8 het unknown deletion chr21 rs3835286 0.61 0.499036 0.2990 intronic COL18A1 Reference - - - - - - - - COL18A1 chr21 46931004 46931004 - AC 21/7(0.25) 316 28 het unknown insertion chr21 rs148407279 0.62 0.629746 0.3824 intronic COL18A1 Reference - - - - - - - - COL18A1 chr21 46935078 46935078 A - 7/17(0.71) 143 24 het unknown deletion chr21 rs11284347 - - 0.3750 3-UTR SLC19A1 Reference - - - - - - - - SLC19A1 chr21 47319495 47319495 - T 31/28(0.47) 487 59 het unknown insertion chr21 - - - - intronic PCBP3 Reference - - - - - - - - PCBP3 chr21 47406610 47406610 - C 8/4(0.33) 49 12 het unknown insertion chr21 rs111710378 0.15 0.084926 0.1936 intronic COL6A1 Reference - - - - - - - - COL6A1 chr21 47410379 47410388 AATGGGGCGA - 3/9(0.75) 403 12 het unknown deletion chr21 - - - 0.1471 intronic COL6A1 Reference - - - - - - - - COL6A1 chr21 47410424 47410424 C - 9/8(0.47) 267 17 het unknown deletion chr21 rs145398932 - - 0.1863 intronic COL6A1 Reference - - - - - - - - COL6A1 chr21 47420566 47420582 GGAGGGCGGCCGGGGAG - 0/37(1.00) 1824 37 hom unknown deletion chr21 rs142824931 0.87 - 0.3456 intronic COL6A1 Reference - - - - - - - - COL6A1 chr21 47533759 47533759 C - 3/3(0.50) 70 6 het unknown deletion chr21 rs149477463 0.12 - 0.1569 intronic COL6A2 Reference - - - - - - - - COL6A2 chr21 47542654 47542654 - C 0/26(1.00) 1594 26 hom unknown insertion chr21 rs5844253 - - 0.3946 intronic COL6A2 Reference - - - - - - - - COL6A2 chr21 47545369 47545369 - C 29/31(0.52) 884 60 het unknown insertion chr21 - - 0.117812 0.3064 intronic COL6A2 Reference - - - - - - - - COL6A2 chr21 47558405 47558405 C - 11/7(0.39) 187 18 het unknown deletion chr21 - - - - intronic FTCD Reference - - - - - - - - FTCD chr21 47615478 47615481 AAAC - 33/30(0.48) 1427 63 het unknown deletion chr21 rs58875826 - - 0.3676 intronic LSS Reference - - - - - - - - LSS chr21 47647619 47647620 AA - 25/28(0.53) 156 53 het unknown deletion chr21 rs147505598 - - 0.2990 intronic LSS Reference - - - - - - - - LSS chr21 47665117 47665120 AAGA - 35/23(0.40) 1057 58 het unknown deletion chr21 rs150712767 0.28 0.311618 0.3603 ncRNA_intronic MCM3AP-AS1 Reference - - - - - - - - MCM3AP-AS1 chr21 47721985 47721985 - TGG 16/7(0.30) 331 23 het nonframeshift insertion chr21 rs71318063 - - 0.2745 exonic C21orf58 Reference - - - - - - - - C21orf58,NM_001286477,exon8,c.578_579insCCA,p.H193delinsHH;C21orf58,NM_001286476,exon8,c.578_579insCCA,p.H193delinsHH;C21orf58,NM_001286463,exon7,c.578_579insCCA,p.H193delinsHH;C21orf58,NM_058180,exon8,c.896_897insCCA,p.H299delinsHH;C21orf58,NM_001286462,exon8,c.578_579insCCA,p.H193delinsHH chr21 47852151 47852151 - G 0/13(1.00) 776 13 hom unknown insertion chr21 - - 0.999837 0.4657 intronic PCNT Reference - - - - - - - - PCNT chr21 47917048 47917048 - T 1/63(0.98) 1529 64 het unknown insertion chr21 - - - - intronic DIP2A Reference - - - - - - - - DIP2A chr21 47917048 47917048 T - 1/63(0.98) 1529 64 het unknown deletion chr21 rs11315869 - 0.850078 0.4730 intronic DIP2A Reference - - - - - - - - DIP2A chr21 47978321 47978321 - C 0/69(1.00) 3070 69 hom unknown insertion chr21 rs77637493 - 0.999747 0.4926 intronic DIP2A Reference - - - - - - - - DIP2A chr22 17488823 17488823 - G 0/20(1.00) 1216 20 hom unknown insertion chr22 rs11378060 0.81 0.838119 0.4632 intronic GAB4 Reference - - - - - - - - GAB4 chr22 17623880 17623880 - C 0/27(1.00) 1342 27 hom unknown insertion chr22 rs34058953 - - 0.4632 intronic CECR5 Reference - - - - - - - - CECR5 chr22 17629544 17629544 - A 0/19(1.00) 715 19 hom unknown insertion chr22 rs11420019 0.71 - 0.3578 intronic CECR5 Reference - - - - - - - - CECR5 chr22 18894002 18894010 GCGGGCGGG - 14/35(0.71) 1714 49 het unknown deletion chr22 rs200505686 0.06 0.071225 0.0637 intronic DGCR6 Reference - - - - - - - - DGCR6 chr22 18910285 18910285 C - 0/27(1.00) 1043 27 hom unknown deletion chr22 rs5844366 - 0.674469 0.4779 intronic PRODH Reference - - - - - - - - PRODH chr22 19050599 19050599 - CCATGTC 35/22(0.39) 1169 57 het unknown insertion chr22 rs111427599 - - 0.2843 intronic DGCR2 Reference - - - - - - - - DGCR2 chr22 19189003 19189003 - C 0/46(1.00) 2854 46 hom frameshift insertion chr22 rs78649162 - - 0.6176 exonic CLTCL1 Reference - - - - - - - - CLTCL1,NM_007098,exon23,c.3601dupG,p.V1201fs;CLTCL1,NM_001835,exon23,c.3601dupG,p.V1201fs chr22 19189035 19189036 CT - 17/22(0.56) 1057 39 het unknown deletion chr22 rs144014409 0.15 0.064133 0.1103 intronic CLTCL1 Reference - - - - - - - - CLTCL1 chr22 19466757 19466757 - G 12/11(0.48) 283 23 het unknown insertion chr22 - 0.46 - 0.2868 upstream CDC45;UFD1L Reference - - - - - - - - CDC45;UFD1L chr22 19776159 19776159 - G 54/69(0.56) 3070 123 het unknown insertion chr22 rs3214094 0.48 0.089456 0.3775 3-UTR GNB1L Reference - - - - - - - - GNB1L chr22 19868256 19868256 G - 14/9(0.39) 222 23 het unknown deletion chr22 rs34827823 0.01 0.195350 - intronic TXNRD2 Reference - - - - - - - - TXNRD2 chr22 19898660 19898660 C - 5/3(0.38) 70 8 het unknown deletion chr22 rs149796774 0.01 - 0.0049 intronic TXNRD2 Reference - - - - - - - - TXNRD2 chr22 20096314 20096314 - CGCCTACCTTGCCAGACCCTGGGCA 0/23(1.00) 984 23 hom unknown insertion chr22 rs146291827 - - 0.2230 intronic DGCR8 Reference - - - - - - - - DGCR8 chr22 20780024 20780024 - C 0/11(1.00) 650 11 hom frameshift insertion chr22 rs5844420 0.97 0.934659 0.4069 exonic SCARF2 Reference - - - - - - - - SCARF2,NM_153334,exon11,c.2253dupG,p.P752fs;SCARF2,NM_182895,exon11,c.2238dupG,p.P747fs chr22 20780029 20780029 - C 0/14(1.00) 839 14 hom frameshift insertion chr22 rs5844422 0.94 0.954082 0.3946 exonic SCARF2 Reference - - - - - - - - SCARF2,NM_153334,exon11,c.2248dupG,p.A750fs;SCARF2,NM_182895,exon11,c.2233dupG,p.A745fs chr22 20891498 20891498 - CCTA 0/59(1.00) 3070 59 hom unknown insertion chr22 rs148534902 0.38 0.044808 0.3529 intronic MED15 Reference - - - - - - - - MED15 chr22 20920814 20920816 CAG - 28/5(0.15) 138 33 het nonframeshift deletion chr22 rs71769813 - - 0.0074 exonic MED15 Reference - - - - - - - - MED15,NM_001003891,exon7,c.751_753del,p.251_251del;MED15,NM_015889,exon7,c.751_753del,p.251_251del chr22 21080721 21080721 - G 0/24(1.00) 1392 24 hom unknown insertion chr22 rs79176945 0.58 0.455563 0.3725 intronic PI4KA Reference - - - - - - - - PI4KA chr22 21167605 21167605 - ACA 0/41(1.00) 2539 41 hom unknown insertion chr22 rs77646456 0.56 0.462220 0.3578 intronic PI4KA Reference - - - - - - - - PI4KA chr22 21332394 21332394 - TG 0/20(1.00) 1216 20 hom unknown insertion chr22 rs10646980 0.96 - 0.4951 intronic AIFM3 Reference - - - - - - - - AIFM3 chr22 21343993 21343998 GGCGCA - 10/22(0.69) 809 32 het unknown deletion chr22 - - - - intronic LZTR1 Reference - - - - - - - - LZTR1 chr22 21344002 21344032 AGAGGAGGTGAGGGGCACGGGGAGCCAGGGC - 13/22(0.63) 796 35 het unknown deletion chr22 - - - - intronic LZTR1 Reference - - - - - - - - LZTR1 chr22 21386392 21386403 CCCGCTCGGTGG - 1/3(0.75) 113 4 het unknown deletion chr22 rs146155796 0.36 - 0.1814 intronic SLC7A4 Reference - - - - - - - - SLC7A4 chr22 21396825 21396825 A - 5/3(0.38) 102 8 het unknown deletion chr22 rs78468987 0.41 - 0.2328 ncRNA_intronic P2RX6P Reference - - - - - - - - P2RX6P chr22 21411546 21411548 ATA - 8/16(0.67) 771 24 het unknown deletion chr22 rs140789347 0.35 - 0.2745 ncRNA_intronic LOC400891 Reference - - - - - - - - LOC400891 chr22 21829514 21829517 TGTC - 46/10(0.18) 347 56 het unknown deletion chr22 rs10561839 0.47 0.801748 0.0294 ncRNA_intronic PI4KAP2 Reference - - - - - - - - PI4KAP2 chr22 22673684 22673685 AG - 44/25(0.36) 1134 69 het unknown deletion chr22 rs148243432 - - 0.0343 ncRNA_intronic BMS1P20 Reference - - - - - - - - BMS1P20 chr22 22707222 22707222 - G 6/3(0.33) 122 9 het unknown insertion chr22 rs149766248 - - 0.1912 intergenic BMS1P20;ZNF280B Reference - - - - - - - - BMS1P20(dist=29898);ZNF280B(dist=131550) chr22 22724136 22724136 T - 0/49(1.00) 1397 49 hom unknown deletion chr22 rs11350868 - 0.903728 0.4559 intergenic BMS1P20;ZNF280B Reference - - - - - - - - BMS1P20(dist=46812);ZNF280B(dist=114636) chr22 23047145 23047145 - TGATATA 87/44(0.34) 2329 131 het unknown insertion chr22 - - 0.144315 0.2696 intergenic GGTLC2;MIR650 Reference - - - - - - - - GGTLC2(dist=56777);MIR650(dist=118125) chr22 23047147 23047148 CT - 95/44(0.32) 1974 139 het unknown deletion chr22 - - 0.113322 0.2525 intergenic GGTLC2;MIR650 Reference - - - - - - - - MIR650(dist=118122);GGTLC2(dist=56779) chr22 23089942 23089943 CT - 0/73(1.00) 3070 73 hom unknown deletion chr22 rs3087123 0.62 - 0.3897 intergenic GGTLC2;MIR650 Reference - - - - - - - - MIR650(dist=75327);GGTLC2(dist=99574) chr22 23165839 23165839 - C 0/53(1.00) 2635 53 hom unknown insertion chr22 rs78776466 - - 0.5245 downstream MIR650 Reference - - - - - - - - MIR650 chr22 23241753 23241753 - A 0/37(1.00) 2287 37 hom unknown insertion chr22 rs202036213 0.96 - 0.4706 intergenic IGLL5;RTDR1 Reference - - - - - - - - IGLL5(dist=3740);RTDR1(dist=159840) chr22 23481134 23481134 A - 37/45(0.55) 186 82 het unknown deletion chr22 - - - 0.0539 intronic RTDR1 Reference - - - - - - - - RTDR1 chr22 23488568 23488568 - T 1/6(0.86) 287 7 het unknown insertion chr22 - - - 0.2941 intronic RAB36 Reference - - - - - - - - RAB36 chr22 23653975 23653975 - CCGG 8/3(0.27) 115 11 het frameshift insertion chr22 - - - 0.0123 exonic BCR Reference - - - - - - - - BCR,NM_004327,exon19,c.3274_3275insCCGG,p.S1092fs;BCR,NM_021574,exon18,c.3142_3143insCCGG,p.S1048fs chr22 23961742 23961742 - GCACCCATAA 0/12(1.00) 713 12 hom unknown insertion chr22 rs5844566 - - 0.2279 intronic C22orf43 Reference - - - - - - - - C22orf43 chr22 23962744 23962744 - TTC 43/44(0.51) 2469 87 het unknown insertion chr22 rs144411921 0.27 0.310854 0.2794 intronic C22orf43 Reference - - - - - - - - C22orf43 chr22 23962974 23962974 - C 15/15(0.50) 814 30 het unknown insertion chr22 rs11372352 0.31 - 0.2721 intronic C22orf43 Reference - - - - - - - - C22orf43 chr22 23964705 23964705 - CAAGATCGTGTCAGTACA 1/3(0.75) 93 4 het unknown insertion chr22 rs148679152 - - 0.0882 intronic C22orf43 Reference - - - - - - - - C22orf43 chr22 24129554 24129555 GC - 6/8(0.57) 339 14 het unknown deletion chr22 rs55705149 - - 0.1912 intronic SMARCB1 Reference - - - - - - - - SMARCB1 chr22 24176960 24176960 A - 35/28(0.44) 1074 63 het unknown deletion chr22 rs35305666 0.75 - 0.4877 3-UTR DERL3 Reference - - - - - - - - DERL3 chr22 24180124 24180124 C - 1/4(0.80) 116 5 het unknown deletion chr22 rs66695524 0.35 - 0.3015 intronic DERL3 Reference - - - - - - - - DERL3 chr22 24203862 24203862 A - 1/3(0.75) 114 4 het unknown deletion chr22 rs147923839 0.27 - 0.2010 intronic SLC2A11 Reference - - - - - - - - SLC2A11 chr22 24432444 24432444 T - 13/14(0.52) 652 27 het unknown deletion chr22 - - - 0.0074 intronic CABIN1 Reference - - - - - - - - CABIN1 chr22 24468184 24468184 - C 0/12(1.00) 713 12 hom unknown insertion chr22 rs3835312 - - 0.4167 intronic CABIN1 Reference - - - - - - - - CABIN1 chr22 24985737 24985738 CC - 11/10(0.48) 265 21 het unknown deletion chr22 rs56017319 - - 0.2500 intronic FAM211B;GGT1 Reference - - - - - - - - FAM211B;GGT1 chr22 25016169 25016169 - T 1/3(0.75) 115 4 het unknown insertion chr22 rs201585724 - - 0.2255 intronic GGT1 Reference - - - - - - - - GGT1 chr22 25151528 25151530 AAA - 2/3(0.60) 79 5 het unknown deletion chr22 rs58105818 0.16 - 0.1495 intronic PIWIL3 Reference - - - - - - - - PIWIL3 chr22 25151891 25151891 A - 11/17(0.61) 264 28 het unknown deletion chr22 rs143403523 - - 0.1961 intronic PIWIL3 Reference - - - - - - - - PIWIL3 chr22 25334037 25334037 - TCATTCAT 19/15(0.44) 802 34 het unknown insertion chr22 - - - 0.3431 intronic TMEM211 Reference - - - - - - - - TMEM211 chr22 25750814 25750814 - AGGGCA 16/28(0.64) 1592 44 het unknown insertion chr22 rs141812512 - 0.434553 0.3407 intronic LRP5L Reference - - - - - - - - LRP5L chr22 25753570 25753601 TCAGTGTTGGTAAATGTCGGTGTCAGTAATTG - 6/5(0.45) 203 11 het unknown deletion chr22 - - - - intronic LRP5L Reference - - - - - - - - LRP5L chr22 26159129 26159129 - TT 11/15(0.58) 727 26 het unknown insertion chr22 rs112518963 0.18 - 0.1716 intronic MYO18B Reference - - - - - - - - MYO18B chr22 26346484 26346484 - TG 2/4(0.67) 194 6 het unknown insertion chr22 - - - 0.0368 intronic MYO18B Reference - - - - - - - - MYO18B chr22 26688001 26688004 GGAT - 2/3(0.60) 83 5 het unknown deletion chr22 - - - 0.0074 intronic SEZ6L Reference - - - - - - - - SEZ6L chr22 26688107 26688107 - AAGG 6/4(0.40) 207 10 het unknown insertion chr22 - - - - intronic SEZ6L Reference - - - - - - - - SEZ6L chr22 26706500 26706500 - A 14/14(0.50) 268 28 het unknown insertion chr22 rs35444510 - - 0.0931 intronic SEZ6L Reference - - - - - - - - SEZ6L chr22 26710038 26710039 AC - 1/7(0.88) 283 8 het unknown deletion chr22 rs144139924 - - 0.2623 intronic SEZ6L Reference - - - - - - - - SEZ6L chr22 26778077 26778077 A - 27/18(0.40) 663 45 het unknown deletion chr22 rs143254900 - - 0.0466 3-UTR SEZ6L Reference - - - - - - - - SEZ6L chr22 26879947 26879967 GAGGCGGCGCCCCGGGGGAGA - 0/10(1.00) 526 10 hom nonframeshift deletion chr22 rs66831137 - 0.296053 0.1814 exonic SRRD Reference - - - - - - - - SRRD,NM_001013694,exon1,c.91_111del,p.31_37del chr22 26886954 26886954 T - 1/56(0.98) 1206 57 hom unknown deletion chr22 rs34878449 - - 0.4020 intronic SRRD Reference - - - - - - - - SRRD chr22 29130347 29130347 - T 15/16(0.52) 592 31 het unknown insertion chr22 - - 0.142343 0.3922 intronic CHEK2 Reference - - - - - - - - CHEK2 chr22 29196043 29196043 - T 0/27(1.00) 1657 27 hom unknown insertion chr22 - 0.30 0.104416 0.2181 intronic XBP1 Reference - - - - - - - - XBP1 chr22 29455687 29455687 - CTT 1/5(0.83) 257 6 het unknown insertion chr22 rs5844832 0.45 - 0.2279 intronic C22orf31 Reference - - - - - - - - C22orf31 chr22 29707639 29707639 - C 0/16(1.00) 914 16 hom unknown insertion chr22 rs34777709 - 0.998018 0.3260 exonic GAS2L1 Reference - - - - - - - - GAS2L1 chr22 29885567 29885567 - AAGTCCCCTGAGAAGGCC 1/88(0.99) 3070 89 hom nonframeshift insertion chr22 rs147489453 - - 0.3995 exonic NEFH Reference - - - - - - - - NEFH,NM_021076,exon4,c.1938_1939insAAGTCCCCTGAGAAGGCC,p.A646delinsAKSPEKA chr22 29885859 29885876 GCTAAGTCCCCAGAGAAG - 94/112(0.54) 3070 206 het nonframeshift deletion chr22 - - 0.551438 0.0515 exonic NEFH Reference - - - - - - - - NEFH,NM_021076,exon4,c.2230_2247del,p.744_749del chr22 29939362 29939362 G - 14/2(0.12) 49 16 het unknown deletion chr22 - - - - intronic THOC5 Reference - - - - - - - - THOC5 chr22 29952017 29952018 AG - 16/23(0.59) 1112 39 het unknown deletion chr22 rs148052790 - 0.254089 0.2230 intronic NIPSNAP1 Reference - - - - - - - - NIPSNAP1 chr22 30134523 30134523 - G 14/15(0.52) 817 29 het unknown insertion chr22 rs146621560 0.17 - 0.2083 intronic ZMAT5 Reference - - - - - - - - ZMAT5 chr22 30185352 30185365 TGACCAGCCCCGAG - 2/3(0.60) 110 5 het unknown deletion chr22 rs140148 0.57 - 0.2549 intronic ASCC2 Reference - - - - - - - - ASCC2 chr22 30398733 30398733 T - 21/19(0.47) 889 40 het unknown deletion chr22 rs138165493 0.08 - 0.0931 intronic MTMR3 Reference - - - - - - - - MTMR3 chr22 30741231 30741235 AGGGG - 11/13(0.54) 605 24 het unknown deletion chr22 rs67616715 0.12 0.210335 0.1569 intronic SF3A1 Reference - - - - - - - - SF3A1 chr22 30769477 30769477 A - 12/11(0.48) 498 23 het unknown deletion chr22 rs3840093 0.12 - 0.1225 ncRNA_exonic KIAA1656 Reference - - - - - - - - KIAA1656 chr22 30822920 30822920 - G 0/49(1.00) 2887 49 hom unknown insertion chr22 - - - 0.4902 intronic MTFP1 Reference - - - - - - - - MTFP1 chr22 31301734 31301734 - GG 0/18(1.00) 1033 18 hom unknown insertion chr22 - - - 0.3971 intronic OSBP2 Reference - - - - - - - - OSBP2 chr22 31664396 31664415 AAGGCAAACAGGGCACGGAC - 5/5(0.50) 206 10 het unknown deletion chr22 rs144757660 - - 0.1078 intronic LIMK2 Reference - - - - - - - - LIMK2 chr22 31671050 31671050 C - 33/37(0.53) 1472 70 het unknown deletion chr22 rs66507268 0.39 - 0.3186 intronic LIMK2 Reference - - - - - - - - LIMK2 chr22 31854435 31854435 T - 0/46(1.00) 1647 46 hom unknown deletion chr22 rs11293411 0.99 0.927875 0.4951 intronic EIF4ENIF1 Reference - - - - - - - - EIF4ENIF1 chr22 31942829 31942829 - T 22/13(0.37) 178 35 het unknown insertion chr22 rs148360145 - - 0.3064 intronic SFI1 Reference - - - - - - - - SFI1 chr22 31971172 31971172 - TCT 0/21(1.00) 1279 21 hom unknown insertion chr22 rs10657905 - 0.985309 0.4657 intronic SFI1 Reference - - - - - - - - SFI1 chr22 31976452 31976452 C - 19/16(0.46) 738 35 het unknown deletion chr22 rs11347644 0.43 - 0.2990 intronic SFI1 Reference - - - - - - - - SFI1 chr22 32015425 32015426 TT - 15/14(0.48) 525 29 het unknown deletion chr22 rs142338374 0.25 - 0.2157 3-UTR PISD Reference - - - - - - - - PISD chr22 32478972 32478972 - G 0/60(1.00) 3070 60 hom unknown insertion chr22 rs35865118 - - 0.4779 intronic SLC5A1 Reference - - - - - - - - SLC5A1 chr22 32791930 32791930 C - 6/7(0.54) 152 13 het unknown deletion chr22 rs3215463 0.48 - 0.3333 intronic RTCB Reference - - - - - - - - RTCB chr22 32934245 32934245 - CCT 13/11(0.46) 580 24 het unknown insertion chr22 - - - 0.0294 intronic SYN3 Reference - - - - - - - - SYN3 chr22 35812507 35812526 TGTGTGTGTGTGTGTGTGTG - 8/7(0.47) 230 15 het unknown deletion chr22 - - - - intronic MCM5 Reference - - - - - - - - MCM5 chr22 35812505 35812526 TGTGTGTGTGTGTGTGTGTGTG - 8/7(0.47) 230 15 het unknown deletion chr22 - - - 0.0270 intronic MCM5 Reference - - - - - - - - MCM5 chr22 36006923 36006923 - C 0/31(1.00) 1909 31 hom unknown insertion chr22 rs35171458 - - 0.5098 intronic MB Reference - - - - - - - - MB chr22 36587845 36587845 - CT 0/290(1.00) 3070 290 hom unknown insertion chr22 rs5845253 0.80 0.593016 0.5049 exonic APOL4 Reference - - - - - - - - APOL4 chr22 36691447 36691447 - GT 1/3(0.75) 137 4 het unknown insertion chr22 rs71322998 - - 0.2598 intronic MYH9 Reference - - - - - - - - MYH9 chr22 36708050 36708057 TCCTGTGA - 0/17(1.00) 896 17 hom unknown deletion chr22 rs3842715 0.63 0.152629 0.4510 intronic MYH9 Reference - - - - - - - - MYH9 chr22 37268725 37268736 TTGGAGGTAAGG - 1/3(0.75) 113 4 het unknown deletion chr22 - - - 0.0270 intronic NCF4 Reference - - - - - - - - NCF4 chr22 37457849 37457849 - ACC 14/15(0.52) 817 29 het unknown insertion chr22 - - - 0.0074 intronic KCTD17 Reference - - - - - - - - KCTD17 chr22 37469387 37469390 GATG - 9/9(0.50) 403 18 het unknown deletion chr22 rs111916270 - - 0.2304 intronic TMPRSS6 Reference - - - - - - - - TMPRSS6 chr22 37531257 37531257 - GTGT 7/12(0.63) 669 19 het unknown insertion chr22 - - - - intronic IL2RB Reference - - - - - - - - IL2RB chr22 37602583 37602583 - C 0/49(1.00) 2726 49 hom unknown insertion chr22 rs11431949 - - 0.5245 3-UTR SSTR3 Reference - - - - - - - - SSTR3 chr22 37622880 37622880 - T 0/50(1.00) 2938 50 hom unknown insertion chr22 rs147886654 0.28 0.222711 0.3015 intronic RAC2 Reference - - - - - - - - RAC2 chr22 37699197 37699197 - G 0/22(1.00) 1086 22 hom unknown insertion chr22 rs35187313 0.70 - 0.4240 intronic CYTH4 Reference - - - - - - - - CYTH4 chr22 37892956 37892956 A - 10/11(0.52) 388 21 het unknown deletion chr22 rs55977141 0.28 - 0.2892 intronic CARD10 Reference - - - - - - - - CARD10 chr22 37906309 37906314 CTCCTT - 0/113(1.00) 3070 113 hom nonframeshift deletion chr22 rs113275238 - - 0.2868 exonic CARD10 Reference - - - - - - - - CARD10,NM_014550,exon4,c.814_819del,p.272_273del chr22 37964409 37964429 CAGCGCCTGCTGCAAACCCCT - 13/7(0.35) 274 20 het nonframeshift deletion chr22 rs200195385 0.28 0.423304 0.1863 exonic CDC42EP1 Reference - - - - - - - - CDC42EP1,NM_152243,exon3,c.758_778del,p.253_260del chr22 38119755 38119757 CAA - 1/202(1.00) 3070 203 hom nonframeshift deletion chr22 rs112384130 0.56 0.353474 0.5539 exonic TRIOBP Reference - - - - - - - - TRIOBP,NM_001039141,exon7,c.1192_1194del,p.398_398del chr22 38120176 38120178 CCT - 131/72(0.35) 3070 203 het nonframeshift deletion chr22 rs146565844 - - 0.3652 exonic TRIOBP Reference - - - - - - - - TRIOBP,NM_001039141,exon7,c.1613_1615del,p.538_539del chr22 38151101 38151101 G - 59/38(0.39) 1767 97 het unknown deletion chr22 rs34655947 0.03 0.055112 0.0564 intronic TRIOBP Reference - - - - - - - - TRIOBP chr22 38453648 38453648 - G 0/12(1.00) 635 12 hom unknown insertion chr22 - - - 0.4044 intronic PICK1 Reference - - - - - - - - PICK1 chr22 38453679 38453679 - G 0/19(1.00) 1093 19 hom unknown insertion chr22 - 0.99 - 0.4240 intronic PICK1 Reference - - - - - - - - PICK1 chr22 38483155 38483155 - TCATGGGTG 21/15(0.42) 795 36 het nonframeshift insertion chr22 rs142739979 - 0.332436 0.2696 exonic BAIAP2L2 Reference - - - - - - - - BAIAP2L2,NM_025045,exon11,c.1234_1235insCACCCATGA,p.N412delinsTPMN chr22 38493188 38493188 G - 20/10(0.33) 200 30 het unknown deletion chr22 rs5845370 - 0.020274 0.1765 intronic BAIAP2L2 Reference - - - - - - - - BAIAP2L2 chr22 38494006 38494018 GGTCTCGCCCCGA - 4/5(0.56) 209 9 het unknown deletion chr22 rs147676763 - - 0.2574 intronic BAIAP2L2 Reference - - - - - - - - BAIAP2L2 chr22 38617339 38617342 GTGA - 8/5(0.38) 197 13 het unknown deletion chr22 rs10545677 0.04 - 0.0147 3-UTR TMEM184B Reference - - - - - - - - TMEM184B chr22 38699051 38699054 AGGC - 0/64(1.00) 3070 64 hom unknown deletion chr22 rs3830720 0.87 0.885048 0.5098 intronic CSNK1E Reference - - - - - - - - CSNK1E chr22 38895522 38895524 AAG - 38/28(0.42) 1308 66 het unknown deletion chr22 rs3833951 0.37 0.263339 0.3407 intronic DDX17 Reference - - - - - - - - DDX17 chr22 39032112 39032112 - AGAAA 1/3(0.75) 137 4 het unknown insertion chr22 rs147256974 0.52 - 0.2157 intronic FAM227A Reference - - - - - - - - FAM227A chr22 39636945 39636948 CACT - 0/16(1.00) 727 16 hom unknown deletion chr22 rs138673005 - - 0.4412 intronic PDGFB Reference - - - - - - - - PDGFB chr22 39777822 39777822 - CAA 0/82(1.00) 3070 82 hom nonframeshift insertion chr22 rs201426741 - 0.740788 0.5980 exonic SYNGR1 Reference - - - - - - - - SYNGR1,NM_004711,exon4,c.605_606insCAA,p.P202delinsPN chr22 40052646 40052646 - GAAT 48/32(0.40) 1710 80 het unknown insertion chr22 rs112171045 - - 0.1348 intronic CACNA1I Reference - - - - - - - - CACNA1I chr22 40073482 40073482 - G 5/3(0.38) 43 8 het unknown insertion chr22 - - - 0.0515 intronic CACNA1I Reference - - - - - - - - CACNA1I chr22 41195191 41195191 - GTGGCATGGTT 3/5(0.62) 251 8 het unknown insertion chr22 rs113851841 - - 0.2157 intronic SLC25A17 Reference - - - - - - - - SLC25A17 chr22 41521849 41521858 TTTTGTTTCT - 23/31(0.57) 1507 54 het unknown deletion chr22 rs149839029 0.20 0.035304 0.2083 intronic EP300 Reference - - - - - - - - EP300 chr22 41617160 41617160 - G 7/12(0.63) 659 19 het unknown insertion chr22 - 0.51 0.734320 0.4118 intronic L3MBTL2 Reference - - - - - - - - L3MBTL2 chr22 41645501 41645501 G - 57/44(0.44) 1105 101 het unknown deletion chr22 rs139500 - 0.829978 0.5049 intronic RANGAP1 Reference - - - - - - - - RANGAP1 chr22 42141871 42141871 - A 35/18(0.34) 934 53 het unknown insertion chr22 rs79093738 0.18 0.088983 0.1275 intronic MEI1 Reference - - - - - - - - MEI1 chr22 42538514 42538514 - C 2/7(0.78) 352 9 het unknown insertion chr22 rs149012039 0.46 - 0.4314 ncRNA_exonic CYP2D7P1 Reference - - - - - - - - CYP2D7P1 chr22 42896554 42896558 GGGGC - 0/20(1.00) 1062 20 hom unknown deletion chr22 rs138010146 0.85 - 0.3480 upstream SERHL Reference - - - - - - - - SERHL chr22 42910685 42910685 - A 34/5(0.13) 157 39 het unknown insertion chr22 rs142905414 - 0.124700 0.0833 intronic RRP7A Reference - - - - - - - - RRP7A chr22 43523921 43523921 - CT 0/11(1.00) 650 11 hom unknown insertion chr22 rs140605523 0.93 - 0.3750 intronic BIK Reference - - - - - - - - BIK chr22 43524488 43524489 CT - 0/30(1.00) 1614 30 hom unknown deletion chr22 rs4988438 0.53 0.501278 0.4093 intronic BIK Reference - - - - - - - - BIK chr22 44258312 44258317 CGCGCC - 1/3(0.75) 113 4 het unknown deletion chr22 - - - 0.0417 5-UTR SULT4A1 Reference - - - - - - - - SULT4A1 chr22 44283676 44283676 - AC 0/12(1.00) 689 12 hom unknown insertion chr22 - - - 0.1863 intronic PNPLA5 Reference - - - - - - - - PNPLA5 chr22 44283678 44283682 AGGAG - 0/12(1.00) 604 12 hom unknown deletion chr22 - - - 0.3137 intronic PNPLA5 Reference - - - - - - - - PNPLA5 chr22 44283688 44283690 GCA - 0/12(1.00) 604 12 hom unknown deletion chr22 rs143992164 0.88 - 0.2206 intronic PNPLA5 Reference - - - - - - - - PNPLA5 chr22 44535904 44535904 - CTTTCTGGCTGGCTCTGTCCCTCATCCTCCA 0/14(1.00) 794 14 hom unknown insertion chr22 - 0.75 - 0.0858 intronic PARVB Reference - - - - - - - - PARVB chr22 44559716 44559716 A - 18/26(0.59) 1263 44 het unknown deletion chr22 rs56412646 0.45 0.131070 0.3260 intronic PARVB Reference - - - - - - - - PARVB chr22 44594739 44594739 - ATCC 4/5(0.56) 248 9 het unknown insertion chr22 rs142865703 0.11 - 0.0858 intronic PARVG Reference - - - - - - - - PARVG chr22 45127807 45127816 TCTGCTCTGT - 2/2(0.50) 46 4 het unknown deletion chr22 rs144139805 0.15 - 0.1078 intronic PRR5;PRR5-ARHGAP8 Reference - - - - - - - - PRR5;PRR5-ARHGAP8 chr22 45182322 45182324 TCT - 11/13(0.54) 605 24 het unknown deletion chr22 rs67401095 0.09 0.209755 0.1324 intronic ARHGAP8;PRR5-ARHGAP8 Reference - - - - - - - - ARHGAP8;PRR5-ARHGAP8 chr22 45255533 45255534 CT - 11/9(0.45) 397 20 het unknown deletion chr22 rs146760518 0.35 - 0.3284 intronic ARHGAP8;PRR5-ARHGAP8 Reference - - - - - - - - ARHGAP8;PRR5-ARHGAP8 chr22 45255899 45255899 A - 2/3(0.60) 111 5 het unknown deletion chr22 rs149319355 0.57 - 0.2672 intronic ARHGAP8;PRR5-ARHGAP8 Reference - - - - - - - - ARHGAP8;PRR5-ARHGAP8 chr22 45258489 45258495 CTGTATA CTATA het unknown substitution chr22 - - - - 3-UTR ARHGAP8;PRR5-ARHGAP8 Reference - - - - - - - - ARHGAP8;PRR5-ARHGAP8 chr22 45258492 45258495 TATA - 1/25(0.96) 1142 26 het unknown deletion chr22 rs66912386 0.69 0.174521 0.3529 3-UTR ARHGAP8;PRR5-ARHGAP8 Reference - - - - - - - - ARHGAP8;PRR5-ARHGAP8 chr22 45567055 45567056 AT - 4/5(0.56) 209 9 het unknown deletion chr22 rs132877 0.52 - 0.3088 5-UTR NUP50 Reference - - - - - - - - NUP50 chr22 45718922 45718922 - TGTG 4/6(0.60) 288 10 het unknown insertion chr22 - - - 0.2353 intronic FAM118A Reference - - - - - - - - FAM118A chr22 45748284 45748284 - T 0/76(1.00) 3070 76 hom unknown insertion chr22 rs11375006 - - 0.4926 intronic SMC1B Reference - - - - - - - - SMC1B chr22 45813434 45813434 T - 0/23(1.00) 803 23 hom unknown deletion chr22 rs11320557 0.67 0.626057 0.3701 intronic RIBC2 Reference - - - - - - - - RIBC2 chr22 45929595 45929595 G - 34/22(0.39) 775 56 het unknown deletion chr22 rs3216851 0.50 0.189407 0.3971 intronic FBLN1 Reference - - - - - - - - FBLN1 chr22 46664985 46664985 - C 6/7(0.54) 94 13 het unknown insertion chr22 - - - 0.1029 intronic TTC38 Reference - - - - - - - - TTC38 chr22 46765181 46765181 - TCAGGTCGCCGAC 0/62(1.00) 3070 62 hom unknown insertion chr22 rs11273699 - 0.983894 0.4657 intronic CELSR1 Reference - - - - - - - - CELSR1 chr22 47097479 47097479 G - 7/6(0.46) 162 13 het unknown deletion chr22 rs57459614 0.37 0.035781 0.2941 intronic CERK Reference - - - - - - - - CERK chr22 47857657 47857658 TA - 11/17(0.61) 748 28 het unknown deletion chr22 rs202008662 0.27 - 0.2108 intergenic TBC1D22A;LINC00898 Reference - - - - - - - - LINC00898(dist=159134);TBC1D22A(dist=286315) chr22 50436846 50436846 - TCC 0/29(1.00) 1783 29 hom unknown insertion chr22 rs79102851 - - 0.4706 intronic IL17REL Reference - - - - - - - - IL17REL chr22 50439755 50439755 - CA 2/4(0.67) 191 6 het unknown insertion chr22 rs113116920 - - 0.3235 intronic IL17REL Reference - - - - - - - - IL17REL chr22 50528496 50528496 - GGTG 7/5(0.42) 189 12 het unknown insertion chr22 - - 0.022422 0.0490 5-UTR MOV10L1 Reference - - - - - - - - MOV10L1 chr22 50528497 50528497 - CGGCG 8/6(0.43) 226 14 het unknown insertion chr22 - - - 0.0539 5-UTR MOV10L1 Reference - - - - - - - - MOV10L1 chr22 50564618 50564618 - T 40/28(0.41) 881 68 het unknown insertion chr22 - 0.31 - 0.2966 intronic MOV10L1 Reference - - - - - - - - MOV10L1 chr22 50566787 50566790 TAGA - 6/10(0.62) 464 16 het unknown deletion chr22 rs75109122 0.07 - 0.0980 intronic MOV10L1 Reference - - - - - - - - MOV10L1 chr22 50682061 50682061 - G 15/11(0.42) 467 26 het unknown insertion chr22 - - - 0.0098 intronic TUBGCP6 Reference - - - - - - - - TUBGCP6 chr22 50687971 50687972 AT - 30/29(0.49) 1366 59 het unknown deletion chr22 rs3830750 0.08 - 0.0809 intronic HDAC10 Reference - - - - - - - - HDAC10 chr22 50703572 50703572 - AG 0/30(1.00) 1846 30 hom unknown insertion chr22 rs10626765 0.57 - 0.3824 intronic MAPK11 Reference - - - - - - - - MAPK11 chr22 50885737 50885737 - G 57/52(0.48) 2741 109 het unknown insertion chr22 rs199991995 0.02 - 0.0074 intronic SBF1 Reference - - - - - - - - SBF1 chr22 50885894 50885895 CA - 23/21(0.48) 987 44 het unknown deletion chr22 rs56853707 0.77 0.335662 0.5221 intronic SBF1 Reference - - - - - - - - SBF1 chr22 50899756 50899756 G - 9/13(0.59) 154 22 het unknown deletion chr22 rs35628474 - - 0.4191 intronic SBF1 Reference - - - - - - - - SBF1 chr22 50925915 50925915 C - 45/46(0.51) 1376 91 het unknown deletion chr22 rs56311845 0.02 0.130990 0.0221 intronic MIOX Reference - - - - - - - - MIOX chr22 50927447 50927447 - GTCCCTCCT 0/43(1.00) 2574 43 hom unknown insertion chr22 rs139170143 - 0.488807 0.2770 intronic MIOX Reference - - - - - - - - MIOX chr22 51021265 51021284 GCTCGGTTCCTTCCGGCCGC - 5/5(0.50) 194 10 het unknown deletion chr22 rs144647670 - - 0.1397 ncRNA_exonic CHKB-CPT1B Reference - - - - - - - - CHKB-CPT1B chr22 51042513 51042513 - G 0/29(1.00) 1783 29 hom unknown insertion chr22 - 0.99 0.995883 0.3824 exonic MAPK8IP2 Reference - - - - - - - - MAPK8IP2 chrX 2732356 2732356 - T 0/13(1.00) 279 13 hom unknown insertion chrX rs3830299 - - 0.2426 intronic XG Reference - - - - - - - - XG chrX 2832880 2832880 - AT 11/6(0.35) 286 17 het unknown insertion chrX rs201839082 0.05 - 0.3015 intronic ARSD Reference - - - - - - - - ARSD chrX 2832920 2832920 - TA 1/3(0.75) 137 4 het unknown insertion chrX rs200436106 - - 0.0515 intronic ARSD Reference - - - - - - - - ARSD chrX 2835999 2836007 CCACGCCGG - 53/8(0.13) 198 61 het nonframeshift deletion chrX - - 0.182718 0.1887 exonic ARSD Reference - - - - - - - - ARSD,NM_001669,exon5,c.701_709del,p.234_237del chrX 9622450 9622450 - AGA 0/18(1.00) 1090 18 hom unknown insertion chrX rs34335400 - - 0.4118 intronic TBL1X Reference - - - - - - - - TBL1X chrX 9659767 9659767 - G 4/57(0.93) 2118 61 hom unknown insertion chrX - 0.20 0.437641 0.1765 intronic TBL1X Reference - - - - - - - - TBL1X chrX 15267128 15267128 - CG 6/2(0.25) 39 8 het unknown insertion chrX - - - - intronic ASB9 Reference - - - - - - - - ASB9 chrX 17705850 17705850 - T 0/51(1.00) 3006 51 hom unknown insertion chrX - - - 0.5392 intronic NHS Reference - - - - - - - - NHS chrX 21534509 21534509 - C 1/4(0.80) 197 5 het unknown insertion chrX rs201596449 0.31 - 0.1961 intronic CNKSR2 Reference - - - - - - - - CNKSR2 chrX 22231249 22231249 - A 0/19(1.00) 1154 19 hom unknown insertion chrX rs11416169 0.17 - 0.1520 intronic PHEX Reference - - - - - - - - PHEX chrX 24593454 24593454 A - 2/44(0.96) 773 46 hom unknown deletion chrX rs3833417 - - 0.3848 intronic PCYT1B Reference - - - - - - - - PCYT1B chrX 31132798 31132799 GG - 0/15(1.00) 103 15 hom unknown deletion chrX - - - 0.1373 intergenic FTHL17;DMD Reference - - - - - - - - DMD(dist=4546);FTHL17(dist=42628) chrX 41524789 41524804 ATCCAAATAAAAAGTT - 0/15(1.00) 785 15 hom unknown deletion chrX rs200400188 - - 0.3725 intronic CASK Reference - - - - - - - - CASK chrX 44202890 44202890 - C 0/31(1.00) 1909 31 hom unknown insertion chrX rs5902346 - 0.999430 0.5098 5-UTR EFHC2 Reference - - - - - - - - EFHC2 chrX 46321945 46321945 A - 2/27(0.93) 319 29 hom unknown deletion chrX rs11342771 - - 0.3725 intronic KRBOX4 Reference - - - - - - - - KRBOX4 chrX 47430612 47430613 GT - 5/3(0.38) 102 8 het unknown deletion chrX rs66672755 - - 0.0172 intronic ARAF Reference - - - - - - - - ARAF chrX 47487912 47487912 - G 0/44(1.00) 2728 44 hom unknown insertion chrX rs11436787 - - 0.4167 intronic CFP Reference - - - - - - - - CFP chrX 49022292 49022292 T - 0/17(1.00) 896 17 hom unknown deletion chrX rs113504281 - - 0.3603 intronic MAGIX Reference - - - - - - - - MAGIX chrX 50121146 50121146 - G 0/21(1.00) 1279 21 hom unknown insertion chrX rs35830302 - - 0.4706 exonic DGKK Reference - - - - - - - - DGKK chrX 50165596 50165597 AC - 1/2(0.67) 61 3 het unknown deletion chrX - - - 0.0245 intronic DGKK Reference - - - - - - - - DGKK chrX 50659210 50659210 - TCT 0/31(1.00) 1909 31 hom nonframeshift insertion chrX - - 0.167255 0.1054 exonic BMP15 Reference - - - - - - - - BMP15,NM_005448,exon2,c.782_783insTCT,p.S261delinsSL chrX 51239296 51239309 TCCTCGAGGCAGCC - 0/11(1.00) 562 11 hom frameshift deletion chrX - - 0.927692 0.4828 exonic NUDT11 Reference - - - - - - - - NUDT11,NM_018159,wholegene chrX 52891620 52891620 T - 20/8(0.29) 218 28 het unknown deletion chrX rs66488051 - - 0.3701 3-UTR XAGE3 Reference - - - - - - - - XAGE3 chrX 52891833 52891833 T - 6/4(0.40) 109 10 het unknown deletion chrX rs66491662 - - 0.2868 intronic XAGE3 Reference - - - - - - - - XAGE3 chrX 52895582 52895583 GT - 0/6(1.00) 99 6 het unknown deletion chrX - - - - intronic XAGE3 Reference - - - - - - - - XAGE3 chrX 52895580 52895583 GTGT - 0/6(1.00) 99 6 het unknown deletion chrX - - - - intronic XAGE3 Reference - - - - - - - - XAGE3 chrX 55172448 55172448 - TT 17/92(0.84) 2924 109 het unknown insertion chrX rs5902536 - - 0.1691 3-UTR FAM104B Reference - - - - - - - - FAM104B chrX 56295961 56295962 TG - 0/12(1.00) 127 12 het unknown deletion chrX - - - - intronic KLF8 Reference - - - - - - - - KLF8 chrX 56295959 56295962 TGTG - 0/12(1.00) 127 12 het unknown deletion chrX rs72190409 - - 0.0025 intronic KLF8 Reference - - - - - - - - KLF8 chrX 66765159 66765164 GCAGCA - 1/4(0.80) 165 5 het nonframeshift deletion chrX - - - 0.0025 exonic AR Reference - - - - - - - - AR,NM_000044,exon1,c.171_176del,p.57_59del chrX 70328747 70328747 G - 0/14(1.00) 609 14 hom unknown deletion chrX - - - - intronic IL2RG Reference - - - - - - - - IL2RG chrX 71933513 71933516 CACA - 2/10(0.83) 441 12 het unknown deletion chrX - - - 0.0172 intronic PHKA1 Reference - - - - - - - - PHKA1 chrX 79283631 79283631 C - 0/12(1.00) 516 12 hom unknown deletion chrX rs76000388 0.54 0.075405 0.2990 intronic TBX22 Reference - - - - - - - - TBX22 chrX 100375371 100375371 A - 0/15(1.00) 785 15 hom unknown deletion chrX rs56066672 0.28 0.260399 0.2402 intronic CENPI Reference - - - - - - - - CENPI chrX 100646622 100646625 TCTC - 0/44(1.00) 2317 44 hom unknown deletion chrX - - - 0.0074 intronic RPL36A;RPL36A-HNRNPH2 Reference - - - - - - - - RPL36A-HNRNPH2;RPL36A chrX 101141777 101141777 C - 0/11(1.00) 469 11 hom unknown deletion chrX rs67953349 - - 0.3333 intronic ZMAT1 Reference - - - - - - - - ZMAT1 chrX 101622534 101622534 - GA 2/3(0.60) 134 5 het unknown insertion chrX rs5903199 - - 0.2794 intronic NXF2;NXF2B Reference - - - - - - - - NXF2B;NXF2 chrX 104464277 104464277 A - 0/61(1.00) 2798 61 hom frameshift deletion chrX rs56000396 - 0.999256 0.5000 exonic TEX13A Reference - - - - - - - - TEX13A,NM_031274,exon5,c.599delT,p.V200fs chrX 104464282 104464282 C - 0/60(1.00) 2526 60 hom splicing deletion chrX rs56118606 - 0.999365 0.4951 splicing TEX13A Reference - - - - - - - - NM_031274,exon5,c.596-1G>-) chrX 106184602 106184609 GAGAGAGA - 3/6(0.67) 259 9 het unknown deletion chrX - - - 0.1005 3-UTR MORC4 Reference - - - - - - - - MORC4 chrX 107332134 107332134 A - 0/33(1.00) 925 33 hom unknown deletion chrX rs201894843 0.13 - 0.1324 intronic PSMD10 Reference - - - - - - - - PSMD10 chrX 107393330 107393330 - G 4/14(0.78) 697 18 het unknown insertion chrX - 0.13 0.547369 0.1422 intronic ATG4A Reference - - - - - - - - ATG4A chrX 107463091 107463102 CCATATTGTATT - 0/11(1.00) 564 11 hom unknown deletion chrX rs201304389 0.24 - 0.2108 intronic COL4A6 Reference - - - - - - - - COL4A6 chrX 111000738 111000738 G - 4/2(0.33) 46 6 het unknown deletion chrX - - - 0.0025 intronic ALG13 Reference - - - - - - - - ALG13 chrX 114425181 114425181 - GAGGCCGCTCGCCCAACGCCCACAGCG 1/50(0.98) 2837 51 hom nonframeshift insertion chrX - - - 0.3971 exonic RBMXL3 Reference - - - - - - - - RBMXL3,NM_001145346,exon1,c.1177_1178insGAGGCCGCTCGCCCAACGCCCACAGCG,p.R393delinsRGRSPNAHSG chrX 117676830 117676830 - AA 0/32(1.00) 1070 32 hom unknown insertion chrX - 0.07 - 0.0490 intronic DOCK11 Reference - - - - - - - - DOCK11 chrX 117679210 117679212 TTG - 1/9(0.90) 426 10 het unknown deletion chrX rs199603015 0.07 - 0.0466 intronic DOCK11 Reference - - - - - - - - DOCK11 chrX 118604553 118604553 - A 0/16(1.00) 778 16 hom unknown insertion chrX rs112853674 0.65 - 0.3946 intronic SLC25A5 Reference - - - - - - - - SLC25A5 chrX 119387833 119387833 - TGA 2/65(0.97) 3070 67 hom nonframeshift insertion chrX rs201958171 0.62 0.572143 0.4436 exonic ZBTB33 Reference - - - - - - - - ZBTB33,NM_001184742,exon3,c.563_564insTGA,p.S188delinsSD;ZBTB33,NM_006777,exon2,c.563_564insTGA,p.S188delinsSD chrX 119509085 119509085 G - 0/11(1.00) 469 11 hom unknown deletion chrX rs147339421 0.50 - 0.2745 intronic ATP1B4 Reference - - - - - - - - ATP1B4 chrX 122318386 122318386 - G 0/34(1.00) 2098 34 hom unknown insertion chrX rs58044961 - - 0.4436 5-UTR GRIA3 Reference - - - - - - - - GRIA3 chrX 122336600 122336600 - G 0/20(1.00) 1073 20 hom frameshift insertion chrX - - - 0.5074 exonic GRIA3 Reference - - - - - - - - GRIA3,NM_001256743,exon3,c.382dupG,p.G127fs chrX 125299932 125299932 - GCG 4/6(0.60) 308 10 het unknown insertion chrX - - - 0.0049 5-UTR DCAF12L2 Reference - - - - - - - - DCAF12L2 chrX 134986770 134986771 TT - 3/11(0.79) 428 14 het unknown deletion chrX - - - 0.0417 intronic SAGE1 Reference - - - - - - - - SAGE1 chrX 134986775 134986775 - TGTG 5/11(0.69) 592 16 het unknown insertion chrX - - - 0.0417 intronic SAGE1 Reference - - - - - - - - SAGE1 chrX 134986781 134986781 - TATGAGAGATCTGTGTATGTC 12/7(0.37) 341 19 het unknown insertion chrX - - - 0.0123 intronic SAGE1 Reference - - - - - - - - SAGE1 chrX 135474445 135474447 GAT - 0/48(1.00) 2595 48 hom nonframeshift deletion chrX rs34255702 - 0.635250 0.5098 exonic GPR112 Reference - - - - - - - - GPR112,NM_153834,exon17,c.7966_7968del,p.2656_2656del chrX 147919064 147919068 AGTTA - 0/11(1.00) 565 11 hom unknown deletion chrX rs67293111 - - 0.3529 intronic AFF2 Reference - - - - - - - - AFF2 chrX 150789334 150789334 - A 0/25(1.00) 962 25 hom unknown insertion chrX - 0.97 - 0.3799 intronic PASD1 Reference - - - - - - - - PASD1 chrX 151283437 151283441 TTATC - 0/35(1.00) 1890 35 hom unknown deletion chrX rs67540048 - - 0.5000 3-UTR MAGEA10-MAGEA5;MAGEA5 Reference - - - - - - - - MAGEA5;MAGEA10-MAGEA5 chrX 152610225 152610233 GTGACCTCT - 0/20(1.00) 1062 20 hom unknown deletion chrX rs35024993 0.81 0.585117 0.4436 intronic ZNF275 Reference - - - - - - - - ZNF275 chrX 153149708 153149708 - C 0/34(1.00) 2098 34 hom unknown insertion chrX - - - 0.4534 intronic L1CAM Reference - - - - - - - - L1CAM chrX 153170447 153170447 - C 0/13(1.00) 776 13 hom unknown insertion chrX - - - 0.3848 upstream AVPR2 Reference - - - - - - - - AVPR2 chrX 153174819 153174819 - G 0/83(1.00) 3070 83 hom unknown insertion chrX rs11394527 - - 0.4118 intronic ARHGAP4 Reference - - - - - - - - ARHGAP4 chrX 153174867 153174867 - G 0/75(1.00) 3070 75 hom unknown insertion chrX - - - 0.4461 intronic ARHGAP4 Reference - - - - - - - - ARHGAP4 chrX 153178459 153178459 - C 0/14(1.00) 748 14 hom unknown insertion chrX rs77485258 - - 0.4926 intronic ARHGAP4 Reference - - - - - - - - ARHGAP4 chrX 153186484 153186484 - C 0/23(1.00) 1116 23 hom unknown insertion chrX - - 0.999308 0.4191 intronic ARHGAP4 Reference - - - - - - - - ARHGAP4 chrX 153210179 153210179 - G 0/20(1.00) 983 20 hom unknown insertion chrX rs146096296 0.99 - 0.4020 5-UTR RENBP Reference - - - - - - - - RENBP chrX 153210195 153210195 - GC 0/11(1.00) 650 11 hom unknown insertion chrX - - - 0.3554 5-UTR RENBP Reference - - - - - - - - RENBP chrX 153210200 153210200 A - 0/11(1.00) 564 11 hom unknown deletion chrX - - - 0.3407 5-UTR RENBP Reference - - - - - - - - RENBP chrX 154456645 154456645 T - 12/54(0.82) 700 66 het unknown deletion chrX rs57301248 - - 0.2132 intronic VBP1 Reference - - - - - - - - VBP1 chrY 10037717 10037717 - A 2/4(0.67) 194 6 het unknown insertion chrY - - - 0.1642 intergenic TTTY23B;NONE Reference - - - - - - - - NONE(dist=NONE);TTTY23B(dist=288146) chrY 10037726 10037726 - TCCCGGTG 2/3(0.60) 134 5 het unknown insertion chrY - - - 0.1569 intergenic TTTY23B;NONE Reference - - - - - - - - NONE(dist=NONE);TTTY23B(dist=288155) chrY 10037877 10037877 - C 2/88(0.98) 3070 90 hom unknown insertion chrY rs76696713 - - 0.2206 intergenic TTTY23B;NONE Reference - - - - - - - - NONE(dist=NONE);TTTY23B(dist=288306) chrY 10037990 10037990 - G 4/6(0.60) 277 10 het unknown insertion chrY - - - 0.1814 intergenic TTTY23B;NONE Reference - - - - - - - - NONE(dist=NONE);TTTY23B(dist=288419) chrY 15508700 15508704 CTTCT - 0/15(1.00) 785 15 hom unknown deletion chrY rs199815934 - - 0.1422 intronic UTY Reference - - - - - - - - UTY