chr1:12902432 G 66995 1 12902432 T>>>C exon 66995 N N N N 4 N N N 5 N 2 ns:PRAMEF7-001_ns:PRAMEF7-201_an:dbsnp129_an:dbsnp130_ chr1:12811002 G 67857394 1 12811002 C>>>T exon 67857394 18 N N N N N N N 5 N 2 ns:PRAMEF11-201_an:dbsnp129_ chr1:44593216 S 77783524 1 44593216 G>>>A exon 77783524 N N N N N N N N 5(11/20) N 1 ns:ERI3-201_syn:ERI3-202_ns:ERI3-001_ chr1:16764808 G 79812631 1 16764808 T>>>C exon 79812631 N N N 215 48 N N 278 29 N 4 ns:NBPF1-205_ chr1:45023916 S 80449562 1 45023916 G>>>T exon 80449562 N N N N N N N N 12 N 1 ns:BEST4-001_ chr1:148507752 S 80452068 1 148507752 T>>>C exon 80452068 N N N N N N N N 4 N 1 syn:APH1A-201_ns:APH1A-002_ns:APH1A-001_ chr1:170769158 G 80453645 1 170769158 A>>>G exon 80453645 N N N N N N N N 4 N 1 ns:C1orf9-002_ chr1:203206418 S 80454339 1 203206418 A>>>C exon 80454339 N N N N N N N N 5 N 1 ns:NFASC-206_ns:NFASC-003_ns:NFASC-209_ns:NFASC-208_ns:NFASC-207_ns:NFASC-202_ns:NFASC-204_ns:NFASC-203_ns:NFASC-201_ns:NFASC-205_ns:NFASC-210_ns:NFASC-009_ns:NFASC-012_ns:NFASC-001_ns:NFASC-010_ chr1:245341777 G 80455395 1 245341777 T>>>C exon 80455395 N N N N N N N N 4 N 1 ns:AL390728.37-201_ chr1:245341786 G 80456446 1 245341786 G>>>C exon 80456446 N N N N N N N N 4 N 1 ns:AL390728.37-201_ chr10:38780613 G 79962591 10 38780613 C>>>T exon 79962591 N N N N 10 N N N 5 N 2 ns:AL133216.10-201_ chr10:26545766 S 80457123 10 26545766 T>>>G exon 80457123 N N N N N N N N 4 N 1 ns:GAD2-001_ns:GAD2-002_ chr10:64243344 S 80457951 10 64243344 A>>>G exon 80457951 N N N N N N N N 6 N 1 ns:EGR2-001_ chr10:134476377 G 80459429 10 134476377 T>>>C exon 80459429 N N N N N N N N 5 N 1 ns:C10orf92-001_ns:C10orf92-202_ chr11:1221998 G 1721431 11 1221998 G>>>A exon 1721431 N N N N N N N N 5 N 1 ns:MUC5B-201_an:dbsnp129_an:dbsnp130_ chr11:1006577 G 79392053 11 1006577 T>>>C exon 79392053 8 N N N N N N N 8 N 2 ns:MUC6-201_ chr11:60805915 G 80105629 11 60805915 A>>>G exon 80105629 N N N N N 12 N N 8 N 2 ns:VWCE-202_ chr11:603457 S? 80461858 11 603457 A>>>G exon 80461858 N N N N N N N N 5 N 1 ns:IRF7-203_ns:IRF7-002_ns:IRF7-204_ns:IRF7-201_ns:IRF7-003_ns:IRF7-001_ chr11:67017619 S 80462495 11 67017619 G>>>C exon 80462495 N N N N N N N N 4 N 1 ns:PITPNM1-201_ chr11:65819476 S? 80463254 11 65819476 A>>>G exon 80463254 N N N N N N N N 4 N 1 ns:TMEM151A-201_ chr11:117543002 G 80465741 11 117543002 T>>>C exon 80465741 N N N N N N N N 7 N 1 ns:SCN2B-001_ chr12:113594068 G 13944072 12 113594068 C>>>A exon 13944072 N N N N N N N N 4 N 1 ns:TBX3-201_ns:TBX3-202_ns:TBX3-203_ chr12:116996060 G 69316000 12 116996060 G>>>A exon 69316000 N N N N N N N N 5 N 1 ns:AC131238.3-201_an:dbsnp129_ chr12:6806557 G 74726487 12 6806557 G>>>C exon 74726487 N N N N N N N N 9(11/23) N 1 ns:GPR162-201_ns:GPR162-202_ chr12:13045028 G 80466697 12 13045028 T>>>C exon 80466697 N N N N N N N N 5 N 1 ns:AC007688.15-201_ chr12:107541809 G 80469003 12 107541809 T>>>G exon 80469003 N N N N N N N N 4 N 1 ns:SELPLG-201_ chr13:113587491 G 74726051 13 113587491 G>>>A exon 74726051 N N N N N N N N 4(91/153) N 1 ns:GAS6-001_ns:GAS6-202_ns:GAS6-201_ chr13:49163491 S 80471861 13 49163491 G>>>C exon 80471861 N N N N N N N N 4 N 1 ns:EBPL-001_ns:EBPL-006_ns:EBPL-004_ns:EBPL-002_ns:EBPL-007_ns:EBPL-202_ns:EBPL-201_ chr14:22840765 S? 80474244 14 22840765 T>>>C exon 80474244 N N N N N N N N 4 N 1 ns:PPP1R3E-201_ chr14:105542554 G 80477934 14 105542554 C>>>A exon 80477934 N N N N N N N N 5 N 1 ns:AB019441.1-201_ chr14:105542560 G 80478620 14 105542560 C>>>A exon 80478620 N N N N N N N N 4 N 1 ns:AB019441.1-201_ chr15:18430117 G 77941498 15 18430117 A>>>G exon 77941498 N N N N N N N N 7 N 1 ns:VSIG7-201_ chr15:82978474 G 80478885 15 82978474 T>>>C exon 80478885 N N N N N N N N 6 N 1 ns:SCAND2-201_ chr15:83002386 S 80479031 15 83002386 A>>>T exon 80479031 N N N N N N N N 4 N 1 ns:NMB-002_ns:NMB-001_ chr15:73092155 S 80479541 15 73092155 C>>>A exon 80479541 N N N N N N N N 4 N 1 ns:SCAMP5-201_ chr16:860871 G 4187029 16 860871 C>>>T exon 4187029 N N N N N N N N 5(9/24) N 1 ns:LMF1-202_ns:LMF1-201_an:dbsnp129_an:dbsnp130_ chr16:87544178 G 4595401 16 87544178 G>>>C exon 4595401 N N N N N N N N 7 N 1 ns:AC092384.5-201_an:dbsnp130_ chr16:88508745 G 71229983 16 88508745 T>>>C exon 71229983 N N N N N N N N 5(13/35) N 1 ns:AC092143.4-201_ chr16:263489 G 77564463 16 263489 A>>>C exon 77564463 N N N N N N N(12/53) N N(16/67) 5 1 ns:RGS11-001_ns:RGS11-003_syn:RGS11-201_ns:RGS11-202_ns:RGS11-004_ chr16:1194331 S 80481199 16 1194331 A>>>C exon 80481199 N N N N N N N N 4 N 1 ns:CACNA1H-202_ns:CACNA1H-201_ chr17:54188490 S? 4876947 17 54188490 T>>>C exon 4876947 N N N N N N N N(4/11) 5 N 1 ns:PPM1E-201_an:dbsnp129_an:dbsnp130_ chr17:18082627 G 19397154 17 18082627 G>>>T exon 19397154 N N N N N N N N 4 N 1 ns:LLGL1-001_ chr17:36507486 G 68140155 17 36507486 C>>>T exon 68140155 N N N N N N 8 N 3 N 2 ns:AC100808.6-001_ns:AC100808.6-201_an:dbsnp129_ chr17:77453908 S? 74761392 17 77453908 G>>>A exon 74761392 N N N N N N N N 4(11/32) N 1 ns:NPB-201_ chr17:75816328 G 77769468 17 75816328 G>>>A exon 77769468 N N N N N N N N 10(42/82) N 1 ns:SLC26A11-001_ chr17:41626805 S? 80485035 17 41626805 G>>>C exon 80485035 N N N N N N N N 8 N 1 ns:AC005829.1-201_ chr17:46273011 S? 80485147 17 46273011 G>>>A exon 80485147 N N N N N N N N 8 N 1 ns:WFIKKN2-201_ns:WFIKKN2-202_ chr17:37275062 S? 80485396 17 37275062 C>>>G exon 80485396 N N N N N N N N 4 N 1 ns:KLHL11-001_ chr17:57706215 G 80486444 17 57706215 C>>>A exon 80486444 N N N N N N N N 8 N 1 ns:TBC1D3P2-201_ chr18:28304289 S 80487654 18 28304289 T>>>G exon 80487654 N N N N N N N N 5 2 2 ns:FAM59A-002_ns:FAM59A-001_ chr18:42267186 G 80488394 18 42267186 A>>>C exon 80488394 N N N N N N N N 6 N 1 ns:RNF165-201_ chr19:5538271 G 19564880 19 5538271 A>>>G exon 19564880 N N N N N N N N 7 N 1 ns:SAFB2-201_ chr19:15344906 G 71259232 19 15344906 C>>>T exon 71259232 N N N N N N N N 4(12/35) N 1 ns:AKAP8-201_ chr19:63683580 G 74771297 19 63683580 G>>>A exon 74771297 N N N N N N N N 7(54/72) N 1 ns:ZNF446-201_ns:ZNF446-202_ chr19:7818805 S 80489548 19 7818805 A>>>C exon 80489548 N N N N N N N N 4 N 1 ns:EVI5L-201_ chr19:5782618 S 80489578 19 5782618 A>>>C exon 80489578 N N N N N N N N 5 N 1 ns:FUT6-201_ns:FUT6-202_ns:FUT6-203_ chr19:15132768 S 80490704 19 15132768 G>>>T exon 80490704 N N N N N N N N 4 N 1 ns:NOTCH3-201_ chr19:50591796 S? 80490952 19 50591796 T>>>G exon 80490952 N N N N N N N N 4 N 1 ns:PPP1R13L-202_ chr19:50591795 S? 80491163 19 50591795 C>>>G exon 80491163 N N N N N N N N 4 N 1 ns:PPP1R13L-202_ chr19:44282774 G 80491811 19 44282774 A>>>C exon 80491811 N N N N N N N N 5 N 1 ns:AC011443.6-201_ chr19:18252682 G 80492162 19 18252682 C>>>G exon 80492162 N N N N N N N N 4 N 1 ns:JUND-201_ chr19:45882215 S 80492289 19 45882215 A>>>C exon 80492289 N N N N N N N N 4 N 1 ns:NUMBL-201_ chr19:60285029 G 80493102 19 60285029 T>>>G exon 80493102 N N N N N N N N 4 N 1 ns:EPS8L1-203_ns:EPS8L1-201_ns:EPS8L1-202_ chr2:241218418 G 6674444 2 241218418 G>>>A exon 6674444 N N N N N N N N 6(16/22) N 1 ns:GPR35-001_ns:GPR35-004_ns:GPR35-003_ns:GPR35-002_an:dbsnp129_an:dbsnp130_ chr2:112956465 G 20246126 2 112956465 G>>>C exon 20246126 N N N N N N N N 4 N 1 ns:TTL-001_ chr2:68215410 G 73236891 2 68215410 A>>>C exon 73236891 N N N 25 N N(6/23) N N N(7/41) N 1 ns:WDR92-004_ns:WDR92-005_ns:WDR92-201_ns:WDR92-001_ chr2:95883219 G 77801531 2 95883219 C>>>T exon 77801531 N N N N N N N N 18(6/19) N 1 ns:AC073995.6-201_ chr2:1459960 S? 80493274 2 1459960 T>>>G exon 80493274 N N N N N N N N 4 N 1 ns:TPO-001_ns:TPO-002_ns:TPO-204_ns:TPO-203_ns:TPO-202_ chr2:94901295 G 80495545 2 94901295 C>>>T exon 80495545 N N N N N N N N 8 N 1 ns:TEKT4-001_ chr2:73162160 G 80496733 2 73162160 A>>>G exon 80496733 N N N N N N N N 6 N 1 ns:RAB11FIP5-201_ chr2:234302713 S 80499216 2 234302713 C>>>A exon 80499216 N N N N N N N N 17 N 1 ns:UGT1A3-001_ chr2:200484660 G 80499666 2 200484660 A>>>C exon 80499666 N N N N N N N N 5 N 1 ns:C2orf69-001_ chr2:232498635 S? 80500026 2 232498635 T>>>C exon 80500026 N N N N N N N N 4 N 1 ns:NPPC-001_ns:NPPC-002_ chr2:242225384 G 80501138 2 242225384 G>>>A exon 80501138 N N N N N N N N 4 N 1 ns:THAP4-001_ chr20:28130147 G 80500697 20 28130147 A>>>G exon 80500697 N N N N N N N N 9 N 1 ns:AL121762.13-201_ chr20:17970200 S 80501026 20 17970200 C>>>A exon 80501026 N N N N N N N N 10 N 1 ns:OVOL2-001_ chr20:28130172 G 80501388 20 28130172 A>>>T exon 80501388 N N N N N N N N 25 N 1 ns:AL121762.13-201_ chr20:28130145 G 80501427 20 28130145 A>>>C exon 80501427 N N N N N N N N 11 N 1 ns:AL121762.13-201_ chr20:29878087 S 80501799 20 29878087 A>>>T exon 80501799 N N N N N N N N 4 N 1 ns:MYLK2-002_ns:MYLK2-001_ chr20:48652053 S 80501962 20 48652053 A>>>C exon 80501962 N N N N N N N N 4 N 1 ns:C20orf175-004_ns:C20orf175-201_ns:C20orf175-202_ chr20:54446020 S 80502071 20 54446020 T>>>A exon 80502071 N N N N N N N N 8 N 1 ns:CASS4-001_ns:CASS4-002_ns:CASS4-201_ chr20:60758502 S 80502645 20 60758502 T>>>G exon 80502645 N N N N N N N N 4 N 1 ns:SLCO4A1-201_ns:SLCO4A1-203_ns:SLCO4A1-006_ns:SLCO4A1-202_ chr21:44871782 G 7221493 21 44871782 A>>>G exon 7221493 N N N N N N N N 5 N 1 ns:KRTAP10-9-201_an:dbsnp129_an:dbsnp130_ chr21:42188211 G 80503523 21 42188211 A>>>G exon 80503523 N N N N N N N N 9 N 1 ns:AP001619.1-201_ chr22:49066626 G 14682473 22 49066626 T>>>G exon 14682473 N N N N N N N N 4 N 1 ns:PLXNB2-202_ chr22:18404596 G 72735144 22 18404596 C>>>G exon 72735144 N N N N N N N N 4 N 1 ns:C22orf25-004_ns:C22orf25-005_ chr22:39144449 S? 80504722 22 39144449 G>>>T exon 80504722 N N N N N N N N 4 N 1 ns:MKL1-201_ns:MKL1-002_ns:MKL1-003_ns:MKL1-001_ chr22:45037369 s? 80504740 22 45037369 C>>>G exon 80504740 N N N N N N N N 4 N 1 ns:PKDREJ-001_ chr22:49241552 S? 80505003 22 49241552 A>>>G exon 80505003 N N N N N N N N 5 N 1 ns:SBF1-001_ns:SBF1-204_syn:SBF1-202_syn:SBF1-201_ chr3:196994913 G 8320209 3 196994913 T>>>C exon 8320209 N N N N N N N N 19 N 1 ns:MUC4-001_an:dbsnp130_ chr3:196997568 G 68169658 3 196997568 G>>>A exon 68169658 N N N 7 N N N N 23 N 2 ns:MUC4-001_an:dbsnp129_ chr3:196990868 G 68803263 3 196990868 G>>>A exon 68803263 N N N N N N N N 6 N 1 ns:MUC4-001_an:dbsnp129_ chr3:196999685 Not in normal 77812760 3 196999685 C>>>G exon 77812760 N N N N N N N 6 N(2/3) N 1 ns:MUC4-001_ chr3:4853462 G 80507355 3 4853462 G>>>A exon 80507355 N N N N N N N N 6 N 1 ns:ITPR1-203_ns:ITPR1-202_ns:ITPR1-201_ns:ITPR1-204_ chr3:129687790 S 80510282 3 129687790 T>>>C exon 80510282 N N N N N N N N 5 N 1 ns:GATA2-201_ chr3:129688356 S 80511013 3 129688356 A>>>C exon 80511013 N N N N N N N N 4 N 1 ns:GATA2-201_ chr3:127554180 S 80511452 3 127554180 G>>>C exon 80511452 N N N N N N N N 4 N 1 ns:KLF15-201_ chr3:196990855 G 80512090 3 196990855 C>>>G exon 80512090 N N N N N N N N 5 N 1 ns:MUC4-001_ chr3:185388425 S 80513068 3 185388425 G>>>T exon 80513068 N N N N N N N N 4 N 1 ns:ABCF3-201_ chr3:196999854 G 80513093 3 196999854 C>>>T exon 80513093 N N N N N N N N 13 N 1 ns:MUC4-001_ chr4:119691705 G 8828041 4 119691705 G>>>A exon 8828041 N N N N N N N N 18 N 1 ns:CEP170L-201_an:dbsnp129_an:dbsnp130_ chr4:187158008 G 9153261 4 187158008 G>>>C exon 9153261 N N N N N N N N 15 N 1 ns:AC096659.1-201_an:dbsnp129_an:dbsnp130_ chr4:155463875 G 80394335 4 155463875 G>>>T exon 80394335 N N N N N N N 7 7 9 3 ns:DCHS2-201_ chr4:1955501 S? 80512915 4 1955501 T>>>G exon 80512915 N N N N N N N N 4 N 1 ns:WHSC2-001_ns:WHSC2-201_ chr5:140539213 G 9772309 5 140539213 G>>>C exon 9772309 N N N N N N N N 6 N 1 ns:PCDHB8-001_an:dbsnp130_ chr5:139702570 G 77824657 5 139702570 A>>>G exon 77824657 N N 10 N N N N N N(15/60) N 1 ns:HBEGF-001_ chr5:135216265 S 80524842 5 135216265 G>>>A exon 80524842 N N N N N N N N 6 N 1 ns:AC011427.4-201_ chr5:176764665 S? 80526316 5 176764665 G>>>C exon 80526316 N N N N N N N N 4 N 1 ns:F12-201_ chr6:29965271 G 10104120 6 29965271 C>>>T exon 10104120 N N N N N N N N 8 N 1 ns:AL645929.4-201_an:dbsnp130_ chr6:32657430 G 10159120 6 32657430 C>>>A exon 10159120 N N N N N N N N 8 N 1 ns:HLA-DRB1-001_an:dbsnp130_ chr6:31739699 G 74700423 6 31739699 T>>>C exon 74700423 N N N 4 N N N N(22/85) N(17/69) N 1 ns:BAT4-003_ns:BAT4-005_ns:BAT4-002_ns:BAT4-004_ns:BAT4-001_ chr6:44328839 G 80266611 6 44328839 G>>>A exon 80266611 N N N N N N 7 N 6 N 2 ns:HSP90AB1-004_ns:HSP90AB1-003_ns:HSP90AB1-005_ chr7:142789619 G 20890769 7 142789619 A>>>G exon 20890769 N N N N N N 4 N 4 N 2 ns:ZYX-001_ns:ZYX-201_ns:ZYX-203_ns:ZYX-202_ chr7:43884677 S 77833710 7 43884677 C>>>A exon 77833710 N N N N N N N N 10(22/67) N 1 ns:AC004985.2-202_ns:AC004985.2-203_ns:AC004985.2-201_ns:AC004985.2-204_ chr7:2531648 G 80531665 7 2531648 A>>>C exon 80531665 N N N N N N N N 4 N 1 ns:LFNG-003_ns:LFNG-004_ns:LFNG-201_ns:LFNG-001_ns:LFNG-002_ chr7:2531638 G 80531843 7 2531638 A>>>C exon 80531843 N N N N N N N N 4 N 1 ns:LFNG-003_ns:LFNG-004_ns:LFNG-201_ns:LFNG-001_ns:LFNG-002_ chr7:44977092 S 80533587 7 44977092 T>>>A exon 80533587 N N N N N N N N 4 N 1 ns:MYO1G-201_ chr7:91937132 G 80533999 7 91937132 A>>>G exon 80533999 N N N N N N N N 24 N 1 ns:ERVWE1-001_ns:ERVWE1-201_ chr7:100227613 G 80534185 7 100227613 C>>>T exon 80534185 N N N N N N N N 7 N 1 ns:ZAN-202_ns:ZAN-201_ns:ZAN-203_ chr8:7917908 G 80536669 8 7917908 G>>>T exon 80536669 N N N N N N N N 5 N 1 ns:FAM90A24P-201_ chr8:16070398 S 80537743 8 16070398 C>>>A exon 80537743 N N N N N N N N 14 N 1 ns:MSR1-001_ns:MSR1-201_ns:MSR1-002_ns:MSR1-003_ chr8:67504206 G 80538976 8 67504206 A>>>C exon 80538976 N N N N N N N N 4 N 1 ns:RRS1-201_ chr8:81562219 S 80540214 8 81562219 A>>>C exon 80540214 N N N N N N N N 4 N 1 ns:ZBTB10-201_ chr9:40322569 S 80543698 9 40322569 G>>>C exon 80543698 N N N N N N N N 4 N 1 ns:AL592525.10-201_ chr9:138498921 S 80546302 9 138498921 T>>>C exon 80546302 N N N N N N N N 4 N 1 ns:RP11-413M3.11-001_ chr9:138820544 G 80546595 9 138820544 A>>>C exon 80546595 N N N N N N N N 4 N 1 ns:AL355987.31-202_ chrX:48707590 G 80546369 X 48707590 T>>>G exon 80546369 N N N N N N N N 5 N 1 ns:KCND1-002_ns:KCND1-001_ chrX:10045664 G 80548022 X 10045664 T>>>G exon 80548022 N N N N N N N N 4 N 1 ns:WWC3-001_ns:WWC3-201_ chrX:103154855 S? 80550448 X 103154855 A>>>G exon 80550448 N N N N N N N N 4 N 1 ns:H2BFWT-201_ns:H2BFWT-001_