Chromosome
Position
Variantion ID
Gene
InDel details
Allele Frequency
More Details
chr2 46187 . FAM110C FAM110C:NM_001077710:exon1:c.199delG:p.A67fs . FAM110C
chr4 87408 rs782649454 ZNF595 ZNF595:NM_001286053:exon2:c.1355_1356insTACTG:p.L452fs
ZNF595:NM_001286052:exon3:c.1808_1809insTACTG:p.L603fs
ZNF595:NM_182524:exon4:c.1904_1905insTACTG:p.L635fs
ZNF595:NM_001286054:exon5:c.1355_1356insTACTG:p.L452fs
0.0001 ZNF595
chr19 110747 rs560302340 OR4F17 OR4F17:NM_001005240:exon1:c.70dupT:p.L23fs 0.006 OR4F17
chr9 116848 rs532235124 FOXD4 FOXD4:NM_207305:exon1:c.1271dupT:p.L424fs 0.0095 FOXD4
chr9 117363 rs767915916 FOXD4 FOXD4:NM_207305:exon1:c.756dupG:p.R253fs 0.0092 FOXD4
chr9 117366 rs773530430 FOXD4 FOXD4:NM_207305:exon1:c.753_754insCG:p.G252fs 0.1912 FOXD4
chr9 117371 rs754377138 FOXD4 FOXD4:NM_207305:exon1:c.748_749del:p.G250fs 0.1915 FOXD4
chr20 145515 rs397788846 DEFB126 DEFB126:NM_030931:exon2:c.159_162del:p.G53fs 0.1523 DEFB126
chr20 145670 rs386393058 DEFB126 DEFB126:NM_030931:exon2:c.314_315del:p.T105fs 0.5534 DEFB126
chr4 161789 rs538773608 ZNF718 ZNF718:NM_001039127:exon4:c.1104_1105del:p.T368fs
ZNF718:NM_001289930:exon4:c.1008_1009del:p.T336fs
ZNF718:NM_001289931:exon4:c.1008_1009del:p.T336fs
0.0003 ZNF718
chr5 171209 rs777400932 PLEKHG4B PLEKHG4B:NM_052909:exon14:c.2752_2755del:p.D918fs 9.132E-06 PLEKHG4B
chr20 187984 rs11396059 DEFB128 DEFB128:NM_001037732:exon2:c.183dupA:p.H62fs 0.028 DEFB128
chr9 214814 rs781418350 C9orf66 C9orf66:NM_152569:exon1:c.583delC:p.R195fs 3.014E-05 C9orf66
chr9 215038 rs780732963 C9orf66 C9orf66:NM_152569:exon1:c.359delG:p.G120fs 8.645E-05 C9orf66
chr7 246502 rs774848096 FAM20C FAM20C:NM_020223:exon4:c.951_952insGACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGC:p.L317_D318delinsLDRX 0.2443 FAM20C
chr5 256369 rs112307877 SDHA SDHA:NM_001294332:exon14:c.1800_1801del:p.T600fs
SDHA:NM_004168:exon15:c.1944_1945del:p.T648fs
0.0135 SDHA
chr4 271431 rs782712801 ZNF732 ZNF732:NM_001137608:exon3:c.1422_1423insGGCCCCACAAA:p.C475fs 1.25E-05 ZNF732
chr4 272239 rs782719363 ZNF732 ZNF732:NM_001137608:exon3:c.615delG:p.W205fs 2.661E-05 ZNF732
chr16 286381 rs375604412 PDIA2 PDIA2:NM_006849:exon8:c.1148_1149del:p.P383fs 0.0001 PDIA2
chr16 286659 rs758349470 PDIA2 PDIA2:NM_006849:exon9:c.1346_1347insA:p.T449fs 0.0005 PDIA2
chr16 286660 rs780378184 PDIA2 PDIA2:NM_006849:exon9:c.1347_1348insCCAACGAGCTGGATGCCACA:p.T449fs 0.0005 PDIA2
chr16 286888 rs45571033 PDIA2 PDIA2:NM_006849:exon10:c.1477dupA:p.D492fs 0.0106 PDIA2
chr19 290980 rs753002837 PPAP2C PPAP2C:NM_177543:exon1:c.86_87del:p.R29fs 0.0091 PPAP2C
chr18 334817 rs750635929 COLEC12 COLEC12:NM_130386:exon6:c.1740dupC:p.G581fs 0.0001 COLEC12
chr16 400140 rs35963490 NME4 NME4:NM_001286435:exon5:c.472_473insAG:p.R158fs 0.3223 NME4
chr4 441752 rs376764780 ZNF721 ZNF721:NM_133474:exon3:c.2714_2715del:p.S905fs 0.0063 ZNF721
chr4 444159 rs558445566 ZNF721 ZNF721:NM_133474:exon3:c.304_308del:p.R102fs 0.0002 ZNF721
chr19 501697 rs758941486 MADCAM1 MADCAM1:NM_130760:exon4:c.696_697insCCCAACACCACCTC:p.P232fs 0.0316 MADCAM1
chr19 501701 . MADCAM1 MADCAM1:NM_130760:exon4:c.700_701insGAGCCTCCCA:p.D234fs 0.051 MADCAM1
chr19 501742 rs753094852 MADCAM1 MADCAM1:NM_130760:exon4:c.741_742insCC:p.E247fs 8.949E-05 MADCAM1
chr19 501785 rs747940969 MADCAM1 MADCAM1:NM_130760:exon4:c.784_785insAGGAG:p.P262fs 6.459E-05 MADCAM1
chr19 501786 rs758146056 MADCAM1 MADCAM1:NM_130760:exon4:c.785_786insCTCCCGACACCACCTCCCA:p.P262fs 0.0001 MADCAM1
chr16 553028 . CAPN15 CAPN15:NM_005632:exon13:c.3070_3083del:p.P1024fs 0.008 CAPN15
chr20 604610 . TCF15 TCF15:NM_004609:exon2:c.580dupC:p.L194fs . TCF15
chr11 704605 rs35782494 TMEM80 TMEM80:NM_001276274:exon6:c.811delA:p.T271fs 0.4798 TMEM80
chr16 813356 rs371962006 PRR25 PRR25:NM_001013638:exon3:c.704_720del:p.R235fs 0.3133 PRR25
chr5 825213 . ZDHHC11 ZDHHC11:NM_024786:exon8:c.973_974del:p.L325fs . ZDHHC11
chr5 825218 . ZDHHC11 ZDHHC11:NM_024786:exon8:c.968_969insAT:p.K323fs . ZDHHC11
chr12 861130 rs746484082 WNK1 WNK1:NM_001184985:exon7:c.1739dupA:p.E580fs
WNK1:NM_014823:exon7:c.1739dupA:p.E580fs
WNK1:NM_018979:exon7:c.1739dupA:p.E580fs
WNK1:NM_213655:exon7:c.1739dupA:p.E580fs
0.0023 WNK1
chr12 865142 rs35706572 WNK1 WNK1:NM_213655:exon9:c.2173dupC:p.V724fs 0.3039 WNK1
chr12 865189 rs397768556 WNK1 WNK1:NM_213655:exon9:c.2220dupC:p.L740fs 0.5445 WNK1
chr12 925474 rs770515460 RAD52 RAD52:NM_001297421:exon5:c.288delA:p.R96fs
RAD52:NM_001297419:exon7:c.519delA:p.R173fs
RAD52:NM_001297420:exon7:c.670delA:p.I224fs
RAD52:NM_001297422:exon7:c.519delA:p.R173fs
RAD52:NM_134424:exon7:c.519delA:p.R173fs
9.06E-05 RAD52
chr1 939436 rs200996316 SAMD11 SAMD11:NM_152486:exon7:c.682_683insT:p.P228fs 0.0004 SAMD11
chr1 942423 . SAMD11 SAMD11:NM_152486:exon10:c.1000dupC:p.L333fs . SAMD11
chr19 1004897 rs10666583 GRIN3B GRIN3B:NM_138690:exon3:c.1396_1397insCGTT:p.G466fs 0.2448 GRIN3B
chr4 1025267 rs145808953 FGFRL1 FGFRL1:NM_021923:exon6:c.1435_1436del:p.H479fs
FGFRL1:NM_001004356:exon7:c.1435_1436del:p.H479fs
FGFRL1:NM_001004358:exon7:c.1435_1436del:p.H479fs
0.1987 FGFRL1
chr19 1037647 rs371146424 CNN2 CNN2:NM_201277:exon6:c.560delC:p.T187fs
CNN2:NM_001303499:exon7:c.644delC:p.T215fs
CNN2:NM_001303501:exon7:c.740delC:p.T247fs
CNN2:NM_004368:exon7:c.677delC:p.T226fs
0.001 CNN2
chr9 1051644 . DMRT2 DMRT2:NM_006557:exon2:c.31delG:p.G11fs
DMRT2:NM_181872:exon2:c.31delG:p.G11fs
DMRT2:NM_001130865:exon3:c.31delG:p.G11fs
. DMRT2
chr1 1180842 rs757394688 TTLL10 TTLL10:NM_153254:exon4:c.519dupG:p.P173fs
TTLL10:NM_001130045:exon8:c.738dupG:p.P246fs
0.0025 TTLL10
chr5 1244256 rs765901490 SLC6A18 SLC6A18:NM_182632:exon10:c.1379delC:p.T460fs 8.245E-06 SLC6A18
chr16 1256559 rs397840555 TPSD1 TPSD1:NM_012217:exon2:c.126delG:p.Q42fs 0.2309 TPSD1
chr1 1286109 rs555847974 SCNN1D SCNN1D:NM_001130413:exon7:c.742_743del:p.K248fs 0.002 SCNN1D
chr6 1390047 . FOXF2 FOXF2:NM_001452:exon1:c.101dupC:p.A34fs . FOXF2
chr4 1394560 rs751694408 CRIPAK CRIPAK:NM_175918:exon1:c.49_50insAGTGCCCATGTGGAGTGCC:p.T17fs 0.0006 CRIPAK
chr4 1394561 . CRIPAK CRIPAK:NM_175918:exon1:c.50_51insAT:p.T17fs . CRIPAK
chr4 1394561 . CRIPAK CRIPAK:NM_175918:exon1:c.50_51insGTGCCCATGTGGAGTGCCCGCCTGCTCAT:p.T17fs . CRIPAK
chr4 1394562 rs750778284 CRIPAK CRIPAK:NM_175918:exon1:c.51_52insTGCCCATGTGGAGTGCCCGCCTGCTCACACA:p.T17fs 0.0576 CRIPAK
chr4 1394716 rs568118449 CRIPAK CRIPAK:NM_175918:exon1:c.205_206del:p.R69fs 0.0016 CRIPAK
chr4 1394864 rs775370610 CRIPAK CRIPAK:NM_175918:exon1:c.353_354del:p.S118fs 0.0011 CRIPAK
chr4 1394910 . CRIPAK CRIPAK:NM_175918:exon1:c.399_522del:p.A133fs 0.0002 CRIPAK
chr4 1394926 rs570647163 CRIPAK CRIPAK:NM_175918:exon1:c.415_416del:p.H139fs 0.0002 CRIPAK
chr4 1394971 rs759566743 CRIPAK CRIPAK:NM_175918:exon1:c.460_461insGGAGTGCCCGCCTGCTCACACGTGCCGACGT:p.R154fs 0.1288 CRIPAK
chr4 1395000 . CRIPAK CRIPAK:NM_175918:exon1:c.489_490insGTGGAGTGCCCGCCTGCTCACACGTGCCCAT:p.D163fs 0.0003 CRIPAK
chr4 1395156 rs753152931 CRIPAK CRIPAK:NM_175918:exon1:c.645_648del:p.M215fs 0.0767 CRIPAK
chr4 1395161 . CRIPAK CRIPAK:NM_175918:exon1:c.650_738del:p.S217fs 0.0783 CRIPAK
chr4 1395165 . CRIPAK CRIPAK:NM_175918:exon1:c.654_655insCGCCTGCTCACACGTGCCGATGCGGAGTGCC:p.V218fs 2.277E-05 CRIPAK
chr4 1395337 . CRIPAK CRIPAK:NM_175918:exon1:c.826_827insGTGGGGTGCCCGCCTGCTCACACGTGCCCATGTGGGGTGCCCGCCTGCTCACATGTGCCGAC:p.C276fs 0.0018 CRIPAK
chr4 1395367 rs756047670 CRIPAK CRIPAK:NM_175918:exon1:c.856_886del:p.M286fs 2.557E-05 CRIPAK
chr4 1395637 rs557440144 CRIPAK CRIPAK:NM_175918:exon1:c.1126_1127del:p.H376fs 0.0026 CRIPAK
chr16 1397264 . UNKL UNKL:NM_001193388:exon6:c.735_766del:p.R245fs 0.3228 UNKL
chr1 1454460 rs757880815 ATAD3C ATAD3C:NM_001039211:exon4:c.338delC:p.S113fs 2.157E-05 ATAD3C
chr19 1469190 . APC2 APC2:NM_005883:exon15:c.5889delG:p.P1963fs . APC2
chr20 1578378 . SIRPB1 SIRPB1:NM_001083910:exon2:c.392_393del:p.V131fs
SIRPB1:NM_006065:exon2:c.392_393del:p.V131fs
. SIRPB1
chr20 1578383 rs866668053 SIRPB1 SIRPB1:NM_001083910:exon2:c.388delG:p.D130fs
SIRPB1:NM_006065:exon2:c.388delG:p.D130fs
. SIRPB1
chr19 1599455 rs747032335 UQCR11 UQCR11:NM_006830:exon2:c.156delT:p.F52fs 3.306E-05 UQCR11
chr20 1611397 rs369003673 SIRPB1 SIRPB1:NM_001135844:exon2:c.392_393del:p.V131fs 1.579E-05 SIRPB1
chr20 1611402 rs372728073 SIRPB1 SIRPB1:NM_001135844:exon2:c.388delC:p.H130fs 1.577E-05 SIRPB1
chr20 1611505 rs753408061 SIRPB1 SIRPB1:NM_001135844:exon2:c.284_285del:p.L95fs 0.1253 SIRPB1
chr20 1611508 rs754616582 SIRPB1 SIRPB1:NM_001135844:exon2:c.281_282insGT:p.D94fs 0.1272 SIRPB1
chr1 1703833 rs763070671 CDK11A CDK11A:NM_024011:exon17:c.1901_1902del:p.K634fs
CDK11A:NM_033529:exon17:c.1871_1872del:p.K624fs
0.0002 CDK11A
chr1 1757161 . NADK NADK:NM_001198994:exon6:c.724_725del:p.K242fs . NADK
chr16 1773389 rs377074694 EME2 EME2:NM_001257370:exon1:c.162delG:p.A54fs 0.0476 EME2
chr20 1915303 rs148409797 SIRPA SIRPA:NM_001040023:exon2:c.284_285insGT:p.D95fs
SIRPA:NM_001040022:exon3:c.284_285insGT:p.D95fs
SIRPA:NM_080792:exon3:c.284_285insGT:p.D95fs
0.3323 SIRPA
chr20 1915305 rs749337996 SIRPA SIRPA:NM_001040023:exon2:c.286_287del:p.L96fs
SIRPA:NM_001040022:exon3:c.286_287del:p.L96fs
SIRPA:NM_080792:exon3:c.286_287del:p.L96fs
0.3382 SIRPA
chr1 1955653 rs139735565 CFAP74 CFAP74:NM_001080484:exon18:c.2214delC:p.G738fs 0.2288 CFAP74
chr1 1955673 rs796266880 CFAP74 CFAP74:NM_001080484:exon18:c.2194delG:p.A732fs 0.2279 CFAP74
chr16 1980005 rs200352693 NOXO1 NOXO1:NM_001267721:exon5:c.590delA:p.H197fs
NOXO1:NM_144603:exon5:c.575delA:p.H192fs
NOXO1:NM_172167:exon5:c.578delA:p.H193fs
NOXO1:NM_172168:exon5:c.593delA:p.H198fs
0.0174 NOXO1
chr9 2039817 rs587779749 SMARCA2 SMARCA2:NM_001289396:exon4:c.707_708insGC:p.Q236fs
SMARCA2:NM_001289397:exon4:c.707_708insGC:p.Q236fs
SMARCA2:NM_003070:exon4:c.707_708insGC:p.Q236fs
SMARCA2:NM_139045:exon4:c.707_708insGC:p.Q236fs
0.0005 SMARCA2
chr9 2039818 rs768322744 SMARCA2 SMARCA2:NM_001289396:exon4:c.708_709insGCAG:p.Q236fs
SMARCA2:NM_001289397:exon4:c.708_709insGCAG:p.Q236fs
SMARCA2:NM_003070:exon4:c.708_709insGCAG:p.Q236fs
SMARCA2:NM_139045:exon4:c.708_709insGCAG:p.Q236fs
0.0004 SMARCA2
chr20 2207386 rs201989961 LOC388780 LOC388780:NM_001287682:exon1:c.242delG:p.W81fs . LOC388780
chr11 2299635 rs3214127 C11orf21 C11orf21:NM_001142946:exon4:c.357dupC:p.T120fs 0.002 C11orf21
chr16 2473987 . NTN3 NTN3:NM_006181:exon6:c.1625delG:p.R542fs . NTN3
chr7 2513247 rs778766046 LFNG LFNG:NM_001166355:exon2:c.138_139insGATG:p.T46fs 0.2919 LFNG
chr7 2513248 rs764380644 LFNG LFNG:NM_001166355:exon2:c.139_142del:p.D47fs 0.0588 LFNG
chr20 2752246 . EBF4 EBF4:NM_001110514:exon14:c.1322delC:p.T441fs . EBF4
chrX 2960405 rs773866851 ARSE ARSE:NM_001282631:exon2:c.22_23del:p.D8fs 0.0006 ARSE
chr16 2971588 rs766356438 PAQR4 PAQR4:NM_001284512:exon2:c.240_241del:p.T80fs
PAQR4:NM_001284511:exon3:c.345_346del:p.T115fs
PAQR4:NM_001284513:exon3:c.261_262del:p.T87fs
PAQR4:NM_152341:exon3:c.462_463del:p.T154fs
6.968E-05 PAQR4
chr20 3045699 rs763863070 GNRH2 GNRH2:NM_001501:exon4:c.326_327insGCCCC:p.E109fs
GNRH2:NM_178331:exon4:c.305_306insGCCCC:p.E102fs
GNRH2:NM_178332:exon4:c.302_303insGCCCC:p.E101fs
0.1666 GNRH2
chr20 3045700 rs67749149 GNRH2 GNRH2:NM_001501:exon4:c.327_331del:p.E109fs
GNRH2:NM_178331:exon4:c.306_310del:p.E102fs
GNRH2:NM_178332:exon4:c.303_307del:p.E101fs
0.0064 GNRH2
chr16 3069296 rs71818662 IL32 IL32:NM_001012636:exon5:c.482dupG:p.R161fs
IL32:NM_001012634:exon6:c.449dupG:p.R150fs
IL32:NM_001012635:exon6:c.449dupG:p.R150fs
IL32:NM_001012632:exon7:c.509dupG:p.R170fs
IL32:NM_001012718:exon7:c.509dupG:p.R170fs
IL32:NM_004221:exon7:c.509dupG:p.R170fs
IL32:NM_001012631:exon8:c.509dupG:p.R170fs
IL32:NM_001012633:exon8:c.338dupG:p.R113fs
0.4124 IL32
chr19 3094787 rs745386000 GNA11 GNA11:NM_002067:exon1:c.136_137insGCACGGGC:p.G46fs 0.0002 GNA11
chrX 3112536 rs750474454 ARSF ARSF:NM_001201538:exon11:c.1753_1909del:p.G585fs
ARSF:NM_001201539:exon11:c.1753_1994del:p.G585fs
ARSF:NM_004042:exon11:c.1753_1875del:p.G585fs
0.0024 ARSF
chr18 3129448 rs758381606 MYOM1 MYOM1:NM_003803:exon18:c.2577dupG:p.R860fs 0.0002 MYOM1
chr3 3150885 . CRBN CRBN:NM_001173482:exon11:c.1303_1306del:p.D435fs
CRBN:NM_016302:exon11:c.1306_1309del:p.D436fs
. CRBN
chr16 3356757 rs142397376 OR2C1 OR2C1:NM_012368:exon1:c.817delT:p.F273fs 0.0464 OR2C1
chr17 3433243 rs542093121 OR1E2 OR1E2:NM_001303278:exon1:c.598_599insCTGAAGCTGGCCTGCTCTG:p.D200_T201delinsAEAGLLX
OR1E2:NM_003554:exon1:c.598_599insCTGAAGCTGGCCTGCTCTG:p.D200_T201delinsAEAGLLX
0.0007 OR1E2
chr18 3452217 rs557930227 TGIF1 TGIF1:NM_170695:exon1:c.239dupC:p.A80fs 0.0005 TGIF1
chr18 3452225 rs11571510 TGIF1 TGIF1:NM_170695:exon1:c.246delT:p.P82fs 0.3296 TGIF1
chr19 3539256 rs764889249 C19orf71 C19orf71:NM_001135580:exon1:c.79_83del:p.Y27fs 0.0008 C19orf71
chr19 3543625 rs768763967 C19orf71 C19orf71:NM_001135580:exon3:c.393_396del:p.S131fs 0.0011 C19orf71
chr16 3664333 rs754043164 TRAP1 TRAP1:NM_001272049:exon12:c.1350dupC:p.N451fs
TRAP1:NM_016292:exon13:c.1509dupC:p.N504fs
8.953E-05 TRAP1
chr20 3668986 rs17548837 ADAM33 ADAM33:NM_153202:exon21:c.2334_2341del:p.Q778fs
ADAM33:NM_001282447:exon22:c.2409_2416del:p.Q803fs
ADAM33:NM_025220:exon22:c.2412_2419del:p.Q804fs
0.0519 ADAM33
chr20 3688589 rs375405123 SIGLEC1 SIGLEC1:NM_023068:exon21:c.5101delA:p.T1701fs 0.0049 SIGLEC1
chr17 3690983 rs869269653 P2RX5 P2RX5:NM_001204519:exon3:c.333delC:p.P111fs
P2RX5:NM_002561:exon3:c.333delC:p.P111fs
0.6676 P2RX5
chr1 3763730 rs772074595 CCDC27 CCDC27:NM_152492:exon8:c.1346delA:p.Q449fs 7.42E-05 CCDC27
chr20 3786475 . CENPB CENPB:NM_001810:wholegene 0.0003 CENPB
chr3 4303382 rs762340261 SETMAR SETMAR:NM_001243723:exon1:c.12_13insGCGGCAAAGACGAC:p.E4fs
SETMAR:NM_001276325:exon1:c.12_13insGCGGCAAAGACGAC:p.E4fs
SETMAR:NM_006515:exon1:c.12_13insGCGGCAAAGACGAC:p.E4fs
0.0005 SETMAR
chr19 4324491 rs543271426 STAP2 STAP2:NM_001013841:exon12:c.1110dupG:p.P371fs
STAP2:NM_017720:exon12:c.1248dupG:p.P417fs
0.0009 STAP2
chr11 4368175 rs398075683 OR52B4 OR52B4:NM_001005161:exon1:c.121delC:p.L41fs 0.3555 OR52B4
chr19 4511364 rs750600369 PLIN4 PLIN4:NM_001080400:exon3:c.2553_2554del:p.L851fs 0.0539 PLIN4
chr19 4511367 rs777278419 PLIN4 PLIN4:NM_001080400:exon3:c.2550_2551insGT:p.L851fs 0.046 PLIN4
chr19 4511759 . PLIN4 PLIN4:NM_001080400:exon3:c.2158_2159insTG:p.C720fs . PLIN4
chr19 4512672 rs750341639 PLIN4 PLIN4:NM_001080400:exon3:c.1245_1246insGTAAGACTGTCCTA:p.T416_G417delinsVRLSX 0.0002 PLIN4
chr19 4512797 . PLIN4 PLIN4:NM_001080400:exon3:c.1121delG:p.G374fs . PLIN4
chr11 4545230 rs77893620 OR52M1 OR52M1:NM_001004137:exon1:c.40delT:p.F14fs 0.0084 OR52M1
chr11 4571476 rs71280817 C11orf40 C11orf40:NM_144663:exon4:c.600_601insGT:p.M201fs 0.3598 C11orf40
chr11 4571478 rs71280817 C11orf40 C11orf40:NM_144663:exon4:c.598_599insCT:p.C200fs 0.3128 C11orf40
chr11 4573328 rs146711685 C11orf40 C11orf40:NM_144663:exon2:c.285dupC:p.K96fs 0.0399 C11orf40
chr12 4599099 rs565145822 DYRK4 DYRK4:NM_003845:exon7:c.632_635del:p.T211fs 0.0005 DYRK4
chr12 4626799 rs397849865 AKAP3 AKAP3:NM_001278309:exon5:c.2102dupG:p.G701fs
AKAP3:NM_006422:exon5:c.2102dupG:p.G701fs
0.139 AKAP3
chr12 4626804 rs67512580 AKAP3 AKAP3:NM_001278309:exon5:c.2098delT:p.S700fs
AKAP3:NM_006422:exon5:c.2098delT:p.S700fs
0.1398 AKAP3
chr19 4682867 rs767572790 DPP9-AS1 DPP9-AS1:NM_001242901:exon2:c.9_10del:p.A3fs 0.2205 DPP9-AS1
chr16 4694256 rs781236016 NUDT16L1 NUDT16L1:NM_001193452:exon2:c.432_433insCCCCGCC:p.G144fs 0.001 NUDT16L1
chr17 4744856 rs575052082 ZMYND15 ZMYND15:NM_001267822:exon12:c.1848_1849del:p.S616fs 0.0046 ZMYND15
chr11 4769644 rs34672924 OR51F1 OR51F1:NM_001004752:exon1:c.274delC:p.R92fs 0.2129 OR51F1
chr7 4860219 rs759782420 PAPOLB PAPOLB:NM_020144:exon1:c.1591dupG:p.E531fs 0.0002 PAPOLB
chr20 4869923 rs751050083 SLC23A2 SLC23A2:NM_005116:exon12:c.1233delC:p.P411fs
SLC23A2:NM_203327:exon12:c.1233delC:p.P411fs
0.0055 SLC23A2
chr17 4933908 rs758041497 GP1BA GP1BA:NM_000173:exon2:c.1304_1319del:p.T435fs 0.2461 GP1BA
chr17 4933926 rs770089708 GP1BA GP1BA:NM_000173:exon2:c.1322_1344del:p.S441fs 0.2401 GP1BA
chr16 5033677 rs750922098 NAGPA NAGPA:NM_016256:exon2:c.137_138del:p.R46fs 0.0151 NAGPA
chr16 5047899 rs773386791 C16orf89 C16orf89:NM_001098514:exon7:c.934delA:p.R312fs
C16orf89:NM_152459:exon7:c.934delA:p.R312fs
1.038E-05 C16orf89
chr11 5151565 rs112098990 OR52A1 OR52A1:NM_012375:exon1:c.804dupG:p.S269fs 0.2303 OR52A1
chr11 5301189 rs554520934 OR51B4 OR51B4:NM_033179:exon1:c.749_758del:p.I250fs 0.0007 OR51B4
chr11 5324266 rs375227790 OR51B2 OR51B2:NM_033180:exon1:c.32delT:p.L11fs 0.0007 OR51B2
chr9 5335260 rs555788898 RLN1 RLN1:NM_006911:exon2:c.549delA:p.K183fs 0.0003 RLN1
chr11 5343312 rs372207902 OR51B5 OR51B5:NM_001005567:exon5:c.197_213del:p.A66fs 0.0439 OR51B5
chr11 5454201 rs35301588 OR51I2 OR51I2:NM_001004754:exon1:c.713_714insCA:p.L238fs 0.2957 OR51I2
chr11 5489310 rs576495879 OR52D1 OR52D1:NM_001005163:exon1:c.604_605insGGCT:p.G202fs 0.1345 OR52D1
chr9 5522576 rs567501802 PDCD1LG2 PDCD1LG2:NM_025239:exon2:c.30delG:p.L10fs 0.002 PDCD1LG2
chr11 5778421 rs775728910 OR52N5 OR52N5:NM_001001922:exon1:c.213dupT:p.G72fs 0.0029 OR52N5
chr11 5778422 rs769752204 OR52N5 OR52N5:NM_001001922:exon1:c.213delT:p.F71fs 0.0334 OR52N5
chr11 5788577 rs142442713 OR52N1 OR52N1:NM_001001913:exon1:c.240delT:p.L80fs 0.0415 OR52N1
chr11 6108692 rs778687000 OR56B4 OR56B4:NM_001005181:exon1:c.914_917del:p.L305fs 0.0002 OR56B4
chr12 6313169 rs540989527 PLEKHG6 PLEKHG6:NM_001144857:exon1:c.25delG:p.G9fs 0.0044 PLEKHG6
chr8 6431577 rs759663956 MCPH1 MCPH1:NM_001172574:exon4:c.313dupA:p.I104fs
MCPH1:NM_001172575:exon4:c.313dupA:p.I104fs
MCPH1:NM_024596:exon4:c.313dupA:p.I104fs
2.514E-05 MCPH1
chr11 6528520 rs545654795 DNHD1 DNHD1:NM_144666:exon11:c.1838_1838del:p.E613fs 0.0001 DNHD1
chrX 6533815 rs754610786 VCX3A VCX3A:NM_016379:exon3:c.491delT:p.L164fs 0.0051 VCX3A
chrX 6533817 . VCX3A VCX3A:NM_016379:exon3:c.461_489del:p.L154fs 0.005 VCX3A
chr1 6579104 rs533628552 TAS1R1 TAS1R1:NM_177540:exon5:c.1284_1285del:p.F428fs
TAS1R1:NM_138697:exon6:c.2046_2047del:p.F682fs
0.0013 TAS1R1
chr1 6667743 rs374290353 DNAJC11 DNAJC11:NM_018198:exon4:c.343_344del:p.E115fs 0.0471 DNAJC11
chr5 6754900 rs768847736 PAPD7 PAPD7:NM_001171806:exon7:c.1044_1045del:p.K348fs
PAPD7:NM_001171805:exon13:c.1581_1582del:p.K527fs
PAPD7:NM_006999:exon13:c.1584_1585del:p.K528fs
0.0059 PAPD7
chr7 6785961 rs565232312 RSPH10B,RSPH10B2 RSPH10B2:NM_001099697:exon16:c.1771_1774del:p.I591fs
RSPH10B:NM_173565:exon16:c.1771_1774del:p.I591fs
0.0067 RSPH10B,RSPH10B2
chr11 6921358 rs59264610 OR2D3 OR2D3:NM_001004684:exon1:c.357delC:p.V119fs 0.0459 OR2D3
chr11 6999963 rs763878311 ZNF214 ZNF214:NM_013249:exon3:c.1719_1720del:p.Q573fs 3.308E-05 ZNF214
chr11 7000548 . ZNF214 ZNF214:NM_013249:exon3:c.1134_1135del:p.R378fs . ZNF214
chr12 7190568 rs773639278 PEX5 PEX5:NM_001131023:exon2:c.191delC:p.A64fs 0.0001 PEX5
chr19 7561486 rs532776939 PNPLA6 PNPLA6:NM_001166114:exon32:c.4024_4024del:p.E1342fs
PNPLA6:NM_001166111:exon34:c.4054_4054del:p.E1352fs
PNPLA6:NM_001166112:exon34:c.3829_3829del:p.E1277fs
PNPLA6:NM_001166113:exon35:c.3910_3910del:p.E1304fs
PNPLA6:NM_006702:exon35:c.3910_3910del:p.E1304fs
0.0005 PNPLA6
chr3 7579326 rs747773579 GRM7 GRM7:NM_000844:exon8:c.2420delT:p.I807fs
GRM7:NM_181874:exon8:c.2420delT:p.I807fs
0.0009 GRM7
chr7 7673372 . UMAD1 UMAD1:NM_001302348:exon2:c.1_2insG:p.M1fs
UMAD1:NM_001302349:exon2:c.1_2insG:p.M1fs
. UMAD1
chr5 7757571 rs763762644 ADCY2 ADCY2:NM_020546:exon16:c.2079_2094del:p.M693fs 0.0009 ADCY2
chr12 7795090 rs762642172 NANOG NANOG:NM_001297698:exon4:c.865_866del:p.V289fs
NANOG:NM_024865:exon4:c.913_914del:p.V305fs
0.0217 NANOG
chrX 7843768 rs768077574 VCX VCX:NM_013452:exon3:c.373_374insCTGT:p.S125fs 0.0416 VCX
chrX 7843768 rs768077574 VCX VCX:NM_013452:exon3:c.373_374insCTGTGTGGAT:p.S125fs 0 VCX
chrX 7843768 rs768077574 VCX VCX:NM_013452:exon3:c.373_374insCTGTGTGGATGGCCAGCTTTTCCCCT:p.S125fs 1.95E-05 VCX
chrX 7843771 rs779250791 VCX VCX:NM_013452:exon3:c.376_377del:p.Q126fs 0.0342 VCX
chrX 7843975 rs778613852 VCX VCX:NM_013452:exon3:c.580_581insTGAGT:p.P194fs 2.514E-05 VCX
chr12 8224772 rs553658866 FAM90A1 FAM90A1:NM_018088:exon4:c.61delC:p.Q21fs 0.0228 FAM90A1
chr4 8228138 rs769997126 SH3TC1 SH3TC1:NM_018986:exon12:c.2444_2445insTA:p.A815fs 8.526E-06 SH3TC1
chr8 8702957 rs780587269 CLDN23 CLDN23:NM_194284:exon1:c.559_560insAGCGTT:p.E187delinsERX 6.23E-05 CLDN23
chr17 8797850 rs772162369 MFSD6L MFSD6L:NM_152599:exon1:c.1271delT:p.L424fs 0.002 MFSD6L
chr12 8863967 rs144686314 A2ML1 A2ML1:NM_001282424:exon18:c.2203_2204del:p.A735fs
A2ML1:NM_144670:exon29:c.3676_3677del:p.A1226fs
0.0444 A2ML1
chr19 8888821 rs770233746 MUC16 MUC16:NM_024690:exon56:c.40677_40678insTGGT:p.P13560fs 7.617E-05 MUC16
chr19 8888821 rs770233746 MUC16 MUC16:NM_024690:exon56:c.40677_40678insTGGT:p.P13560fs 7.62E-05 MUC16
chr19 8888822 rs746055260 MUC16 MUC16:NM_024690:exon56:c.40674_40677del:p.K13558fs 0.0002 MUC16
chr19 8888823 . MUC16 MUC16:NM_024690:exon56:c.40675_40676del:p.S13559fs . MUC16
chr19 8888823 rs749870095 MUC16 MUC16:NM_024690:exon56:c.40673_40676del:p.K13558fs 7.653E-05 MUC16
chr19 8888823 rs749870095 MUC16 MUC16:NM_024690:exon56:c.40673_40676del:p.K13558fs 7.65E-05 MUC16
chr19 8888826 rs769228524 MUC16 MUC16:NM_024690:exon56:c.40672_40673insTCGG:p.K13558fs 0.0002 MUC16
chr19 8888831 . MUC16 MUC16:NM_024690:exon56:c.40668delT:p.D13556fs . MUC16
chr19 8888860 . MUC16 MUC16:NM_024690:exon56:c.40638_40639del:p.K13546fs . MUC16
chr19 8888863 . MUC16 MUC16:NM_024690:exon56:c.40635_40636insGG:p.K13546fs . MUC16
chr19 8888877 . MUC16 MUC16:NM_024690:exon56:c.40622delA:p.D13541fs . MUC16
chr19 8888884 . MUC16 MUC16:NM_024690:exon56:c.40614_40615insG:p.K13539fs . MUC16
chr19 8896086 . MUC16 MUC16:NM_024690:exon44:c.39485_39486del:p.T13162fs . MUC16
chr19 8902218 . MUC16 MUC16:NM_024690:exon34:c.38549dupC:p.A12850fs . MUC16
chr19 8902222 . MUC16 MUC16:NM_024690:exon34:c.38546delC:p.S12849fs . MUC16
chr11 8927041 rs769005245 C11orf16 C11orf16:NM_020643:exon4:c.455_458del:p.S152fs 4.943E-05 C11orf16
chr8 9030033 rs66532380 ERI1 ERI1:NM_153332:exon7:c.1049_1310del:p.*350fs 0.4793 ERI1
chr19 9102271 rs745407518 OR7G2 OR7G2:NM_001005193:exon1:c.1035_1036del:p.E345fs 8.771E-06 OR7G2
chr19 9115484 rs151211604 OR7G1 OR7G1:NM_001005192:exon1:c.279_280del:p.T93fs 0.0129 OR7G1
chr19 9126022 rs3029651 OR7G3 OR7G3:NM_001001958:exon1:c.928_929insACCAT:p.S310fs 0.3383 OR7G3
chr19 9126241 rs75266995 OR7G3 OR7G3:NM_001001958:exon1:c.710delC:p.A237fs 0.0576 OR7G3
chr19 9214791 rs536141623 OR7D4 OR7D4:NM_001005191:exon1:c.47delG:p.G16fs 0.0005 OR7D4
chr19 9251064 rs374077378 OR7E24 OR7E24:NM_001079935:exon1:c.22dupT:p.L7fs 0.0924 OR7E24
chr19 9251065 rs201985790 OR7E24 OR7E24:NM_001079935:exon1:c.22delT:p.F8fs 0.2282 OR7E24
chr19 9414457 rs763855195 ZNF266 ZNF266:NM_001271314:exon11:c.468delT:p.F156fs
ZNF266:NM_006631:exon11:c.468delT:p.F156fs
0.0002 ZNF266
chr19 9690765 rs369830506 ZNF812 ZNF812:NM_001199814:exon6:c.734_738del:p.G245fs 0.0902 ZNF812
chr12 9733111 rs71045297 CLECL1 CLECL1:NM_001253750:exon1:c.153_154insACTTA:p.S52fs
CLECL1:NM_001267701:exon1:c.153_154insACTTA:p.S52fs
CLECL1:NM_172004:exon1:c.153_154insACTTA:p.S52fs
0.5068 CLECL1
chr4 9782964 . DRD5 DRD5:NM_000798:exon1:c.936dupC:p.F312fs . DRD5
chr2 9849441 rs754654075 TAF1B TAF1B:NM_005680:exon3:c.187dupA:p.L62fs 0.0704 TAF1B
chr2 9849442 rs528368939 TAF1B TAF1B:NM_005680:exon3:c.187delA:p.K63fs 0.1174 TAF1B
chr12 10054281 rs765829404 CLEC9A CLEC9A:NM_207345:exon5:c.103dupC:p.C34fs 1.649E-05 CLEC9A
chr12 10054283 rs751184872 CLEC9A CLEC9A:NM_207345:exon5:c.104_105insAACCA:p.L35fs 1.649E-05 CLEC9A
chr12 10127745 . CLEC7A CLEC7A:NM_022570:exon2:c.196_202del:p.T66fs
CLEC7A:NM_197947:exon2:c.196_202del:p.T66fs
CLEC7A:NM_197948:exon2:c.196_202del:p.T66fs
CLEC7A:NM_197949:exon2:c.196_202del:p.T66fs
CLEC7A:NM_197954:exon2:c.196_202del:p.T66fs
. CLEC7A
chr2 10141947 rs527506554 C2orf48 C2orf48:NM_182626:exon2:c.65_66insGT:p.Q22fs 9.648E-05 C2orf48
chr19 10259615 rs773709718 MRPL4 MRPL4:NM_015956:exon9:c.740_740del:p.G247fs
MRPL4:NM_146387:exon10:c.740_740del:p.G247fs
0.0039 MRPL4
chr19 10335334 rs765041704 ICAM3 ICAM3:NM_002162:exon4:c.668dupC:p.P223fs 0.0002 ICAM3
chr17 10454940 rs754543306 MYH4 MYH4:NM_017533:exon21:c.2434_2435del:p.R812fs 8.239E-06 MYH4
chr17 10512902 rs545765873 MYH1 MYH1:NM_005963:exon10:c.868dupT:p.Y290fs 0.0016 MYH1
chr21 10552716 . TPTE TPTE:NM_199259:exon7:c.179_179del:p.D60fs
TPTE:NM_199261:exon8:c.233_233del:p.D78fs
. TPTE
chr8 10554003 rs142551217 PRSS55 PRSS55:NM_001197020:exon5:c.802delG:p.G268fs 0.0394 PRSS55
chr6 10586712 rs779233142 GCNT2 GCNT2:NM_145655:exon1:c.724dupT:p.G241fs 0.0005 GCNT2
chr8 10610141 rs773894295 RP1L1 RP1L1:NM_178857:exon4:c.3956_3957insAAGAAGAGAG:p.A1319fs 0.0188 RP1L1
chr8 10610142 rs750925370 RP1L1 RP1L1:NM_178857:exon4:c.3955_3956insGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTG:p.A1319fs 0.0216 RP1L1
chr8 10610142 rs750925370 RP1L1 RP1L1:NM_178857:exon4:c.3955_3956insGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG:p.A1319fs 0.0065 RP1L1
chr6 10817895 rs781376741 MAK MAK:NM_001242385:exon4:c.229_233del:p.F77fs
MAK:NM_001242957:exon4:c.229_233del:p.F77fs
MAK:NM_005906:exon4:c.229_233del:p.F77fs
3.377E-05 MAK
chr19 11326797 rs150288932 TSPAN16 TSPAN16:NM_012466:exon7:c.692dupG:p.W231fs 0.1196 TSPAN16
chr11 11352671 rs571658570 CSNK2A3 CSNK2A3:NM_001256686:exon1:c.436_449del:p.Y146fs 0.0007 CSNK2A3
chr19 11400297 rs569391682 RGL3 RGL3:NM_001035223:exon14:c.1485_1485del:p.S495fs
RGL3:NM_001161616:exon14:c.1485_1485del:p.S495fs
0.0008 RGL3
chr19 11466789 rs757114137 ELAVL3 ELAVL3:NM_001420:exon2:c.47dupG:p.G16fs
ELAVL3:NM_032281:exon2:c.47dupG:p.G16fs
0.0076 ELAVL3
chr17 11598539 rs761517350 DNAH9 DNAH9:NM_001372:exon1:c.41_42insCGCGGATGGGGAACCCGGCGCCGAC:p.N14fs 0.032 DNAH9
chr19 11831417 rs540806687 ZNF440 ZNF440:NM_152357:exon4:c.241delG:p.G81fs 0.002 ZNF440
chr19 11978193 rs772135890 ZNF763 ZNF763:NM_001012753:exon4:c.278_302del:p.D93fs 0.0002 ZNF763
chr19 12043984 rs570415622 ZNF878 ZNF878:NM_001080404:exon4:c.1416_1417del:p.T472fs 0.0015 ZNF878
chr19 12044687 rs572708498 ZNF878 ZNF878:NM_001080404:exon4:c.713dupC:p.S238fs 0.0027 ZNF878
chr19 12076137 rs551445024 ZNF844 ZNF844:NM_001136501:exon4:c.1018dupA:p.C339fs 0.0017 ZNF844
chr19 12076156 rs372628445 ZNF844 ZNF844:NM_001136501:exon4:c.1036_1040del:p.L346fs 0.0271 ZNF844
chr8 12186441 rs777526481 FAM86B1 FAM86B1:NM_001083537:exon5:c.548_551del:p.D183fs 0.0016 FAM86B1
chr7 12351642 rs398094831 VWDE VWDE:NM_001135924:exon19:c.3816dupT:p.K1273_E1274delinsX 0.1239 VWDE
chr19 12430727 rs772146764 ZNF443 ZNF443:NM_005815:exon4:c.1444_1445insCA:p.G482fs 0.0499 ZNF443
chr19 12430729 rs777269339 ZNF443 ZNF443:NM_005815:exon4:c.1442_1443del:p.L481fs 0.0499 ZNF443
chr19 12431550 rs748113623 ZNF443 ZNF443:NM_005815:exon4:c.622delT:p.W208fs 8.244E-06 ZNF443
chr12 12477742 rs201941751 DUSP16 DUSP16:NM_030640:exon7:c.1085_1089del:p.S362fs 0.0615 DUSP16
chr12 12477748 rs200271649 DUSP16 DUSP16:NM_030640:exon7:c.1080_1083del:p.V360fs 0.0557 DUSP16
chr19 12647235 rs774791244 MAN2B1 MAN2B1:NM_000528:exon23:c.2920dupA:p.T974fs
MAN2B1:NM_001173498:exon23:c.2917dupA:p.T973fs
1.648E-05 MAN2B1
chr1 12777562 rs199736234 PRAMEF12 PRAMEF12:NM_001080830:exon3:c.1415_1416insCC:p.C472fs 0.0244 PRAMEF12
chr1 12879725 rs200652754 PRAMEF4 PRAMEF4:NM_001009611:exon4:c.1255dupC:p.R419fs 0.0861 PRAMEF4
chr1 13778644 rs776947041 PRDM2 PRDM2:NM_001007257:exon3:c.246_247del:p.D82fs
PRDM2:NM_012231:exon8:c.849_850del:p.D283fs
PRDM2:NM_015866:exon8:c.849_850del:p.D283fs
0.0042 PRDM2
chr1 13778647 rs770299670 PRDM2 PRDM2:NM_001007257:exon3:c.249delT:p.D83fs
PRDM2:NM_012231:exon8:c.852delT:p.D284fs
PRDM2:NM_015866:exon8:c.852delT:p.D284fs
0.0024 PRDM2
chr19 13937931 rs755710693 PODNL1 PODNL1:NM_001146254:exon2:c.93_94del:p.P31fs
PODNL1:NM_001146255:exon2:c.93_94del:p.P31fs
PODNL1:NM_024825:exon2:c.99_100del:p.P33fs
9.711E-05 PODNL1
chr19 13959894 rs373011773 DCAF15 DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCGGGCAG:p.E480fs 0.2634 DCAF15
chr19 14090355 rs760107729 SAMD1 SAMD1:NM_138352:exon1:c.30_66del:p.P10fs 0.0005 SAMD1
chr18 14105464 rs781357729 ZNF519 ZNF519:NM_145287:exon3:c.1075_1076del:p.R359fs 9.895E-05 ZNF519
chrY 14733528 rs776833545 NLGN4Y NLGN4Y:NM_001164238:exon4:c.762delT:p.N254fs 0 NLGN4Y
chr19 14752361 rs534018804 ADGRE2 ADGRE2:NM_001271052:exon13:c.1581_1582del:p.L527fs
ADGRE2:NM_013447:exon15:c.1755_1756del:p.L585fs
0.0016 ADGRE2
chr19 14752408 rs375427337 ADGRE2 ADGRE2:NM_001271052:exon13:c.1519_1535del:p.Q507fs
ADGRE2:NM_013447:exon15:c.1693_1709del:p.Q565fs
0.0039 ADGRE2
chr19 14799825 rs770755291 OR7C1 OR7C1:NM_198944:exon1:c.311dupT:p.F104fs 0.0088 OR7C1
chr19 14799826 rs534928853 OR7C1 OR7C1:NM_198944:exon1:c.311delT:p.F104fs 0.0112 OR7C1
chr12 14823484 rs139293175 C12orf60 C12orf60:NM_175874:exon2:c.549_550del:p.T183fs 0.1575 C12orf60
chr17 15613889 rs561164533 CDRT1 CDRT1:NM_001282540:exon3:c.814_815insTTCA:p.S272fs
CDRT1:NM_006382:exon3:c.814_815insTTCA:p.S272fs
0.0008 CDRT1
chr19 15658745 rs757529020 CYP4F3 CYP4F3:NM_000896:exon12:c.1333delT:p.F445fs
CYP4F3:NM_001199208:exon12:c.1333delT:p.F445fs
CYP4F3:NM_001199209:exon12:c.1333delT:p.F445fs
0.0001 CYP4F3
chr4 15688397 rs573121028 FAM200B FAM200B:NM_001145191:exon2:c.1421dupT:p.L474fs 0.0073 FAM200B
chr22 15698739 rs753176584 POTEH POTEH:NM_001136213:exon4:c.999_1003del:p.A333fs 0.0003 POTEH
chr4 15703232 rs762463312 BST1 BST1:NM_004334:exon1:c.88_89del:p.A30fs 8.117E-05 BST1
chr1 15747029 rs201466858 TMEM82 TMEM82:NM_001013641:exon5:c.920_921insGA:p.T307fs 0.01 TMEM82
chr1 15747032 rs199908593 TMEM82 TMEM82:NM_001013641:exon5:c.924dupG:p.L308fs 0.0095 TMEM82
chr19 16759285 rs774470171 NWD1 NWD1:NM_001007525:exon7:c.1830delG:p.Q610fs
NWD1:NM_001290355:exon8:c.1425delG:p.Q475fs
2.474E-05 NWD1
chr1 16759500 rs528252461 MST1L MST1L:NM_001271733:exon7:c.901dupG:p.A301fs 0.0472 MST1L
chr1 16759505 rs758788032 MST1L MST1L:NM_001271733:exon7:c.894_897del:p.G298fs 0.0008 MST1L
chr1 16760445 rs748266310 MST1L MST1L:NM_001271733:exon4:c.383_384del:p.R128fs 0.0107 MST1L
chr1 16761047 rs56364660 MST1L MST1L:NM_001271733:exon2:c.119_123del:p.Q40fs 0.4409 MST1L
chrX 16832726 rs746161961 TXLNG TXLNG:NM_001168683:exon4:c.572_573del:p.Q191fs
TXLNG:NM_018360:exon6:c.968_969del:p.Q323fs
0.0016 TXLNG
chr1 17249228 rs769274640 PADI3 PADI3:NM_016233:exon1:c.91delG:p.G31fs 4.121E-05 PADI3
chr19 17281821 rs139615873 ANKLE1 ANKLE1:NM_001278443:exon1:c.64dupC:p.G21fs
ANKLE1:NM_001278444:exon1:c.64dupC:p.G21fs
ANKLE1:NM_152363:exon1:c.64dupC:p.G21fs
0.036 ANKLE1
chr19 17283578 rs536074949 ANKLE1 ANKLE1:NM_001278443:exon5:c.943delA:p.N315fs
ANKLE1:NM_001278444:exon5:c.976delA:p.N326fs
ANKLE1:NM_001278445:exon5:c.880delA:p.N294fs
ANKLE1:NM_152363:exon5:c.976delA:p.N326fs
0.0004 ANKLE1
chr19 17286648 rs764791116 ANKLE1 ANKLE1:NM_001278444:exon8:c.1889_1890del:p.G630fs 0.0027 ANKLE1
chr19 17286648 rs752613355 ANKLE1 ANKLE1:NM_001278444:exon8:c.1889_1892del:p.G630fs 0.0025 ANKLE1
chr19 17286670 rs759291166 ANKLE1 ANKLE1:NM_001278444:exon8:c.1911_1912insTT:p.V637fs 0.0006 ANKLE1
chr19 17286677 rs780452630 ANKLE1 ANKLE1:NM_001278444:exon8:c.1918_1933del:p.C640fs 0.0411 ANKLE1
chr19 17286679 rs770169539 ANKLE1 ANKLE1:NM_001278444:exon8:c.1920_1933del:p.C640fs 0.0836 ANKLE1
chr19 17286689 rs758109052 ANKLE1 ANKLE1:NM_001278444:exon8:c.1930_1933del:p.C644fs 0.0649 ANKLE1
chr19 17286691 rs796716236 ANKLE1 ANKLE1:NM_001278444:exon8:c.1932_1933del:p.C644fs 0.0804 ANKLE1
chr19 17286692 . ANKLE1 ANKLE1:NM_001278444:exon8:c.1933_1934insTG:p.L645fs . ANKLE1
chr11 17372491 rs796108158 NCR3LG1 NCR3LG1:NM_001202439:exon5:c.1344_1345del:p.T448fs 0.063 NCR3LG1
chr19 17455656 rs748149169 NXNL1 NXNL1:NM_138454:exon2:c.630delG:p.G210fs 0.0051 NXNL1
chr2 17781727 rs149936944 GEN1 GEN1:NM_001130009:exon14:c.2515_2519del:p.K839fs
GEN1:NM_182625:exon14:c.2515_2519del:p.K839fs
0.0876 GEN1
chr17 17793785 rs35068024 RAI1 RAI1:NM_030665:exon3:c.837_838del:p.Q279fs 0.4873 RAI1
chr17 17793788 rs34083643 RAI1 RAI1:NM_030665:exon3:c.840delG:p.Q280fs 0.4122 RAI1
chr17 17793788 rs775735568 RAI1 RAI1:NM_030665:exon3:c.840_843del:p.Q280fs 0.0424 RAI1
chr17 17793788 rs773911923 RAI1 RAI1:NM_030665:exon3:c.840_852del:p.Q280fs 0.0003 RAI1
chr4 17803708 . DCAF16 DCAF16:NM_017741:exon3:c.434delT:p.L145fs . DCAF16
chr17 17812645 rs568917551 SREBF1 SREBF1:NM_004176:exon19:c.3420dupT:p.G1141fs
SREBF1:NM_001005291:exon20:c.3510dupT:p.G1171fs
0.0002 SREBF1
chr20 17952679 rs758896347 SNX5 SNX5:NM_001282454:exon5:c.105_106del:p.V35fs
SNX5:NM_014426:exon5:c.420_421del:p.V140fs
SNX5:NM_152227:exon6:c.420_421del:p.V140fs
8.304E-06 SNX5
chr8 17962067 . PCM1 PCM1:NM_006197:exon16:c.2356delA:p.K786fs . PCM1
chr2 18560334 . RDH14 RDH14:NM_020905:exon1:c.238_239del:p.A80fs . RDH14
chr14 18601426 rs768612226 OR11H12 OR11H12:NM_001013354:exon1:c.310delA:p.K104fs 0 OR11H12
chr14 18601742 rs201735699 OR11H12 OR11H12:NM_001013354:exon1:c.626delG:p.R209fs 0.0046 OR11H12
chr17 18749861 rs545382552 FBXW10 FBXW10:NM_001267585:exon3:c.810_811insTTCA:p.G270fs
FBXW10:NM_001267586:exon3:c.810_811insTTCA:p.G270fs
0.0004 FBXW10
chr17 19013373 rs530740415 SLC5A10 SLC5A10:NM_001282417:exon9:c.745_746del:p.Y249fs
SLC5A10:NM_152351:exon10:c.994_995del:p.Y332fs
0.0006 SLC5A10
chr19 19258634 rs778286592 HAPLN4 HAPLN4:NM_023002:exon4:c.705dupG:p.T236fs 1.818E-05 HAPLN4
chr13 19467254 rs777060582 TPTE2 TPTE2:NM_199254:exon8:c.483delT:p.F161fs 0.0006 TPTE2
chr3 19879635 rs747735412 EFHB EFHB:NM_144715:exon13:c.2497_2498del:p.M833fs 8.665E-05 EFHB
chr3 19985699 rs554765949 PP2D1 PP2D1:NM_001252657:exon3:c.1573_1574insCGTG:p.V525fs 0.0007 PP2D1
chr3 20001507 rs550751104 PP2D1 PP2D1:NM_001252657:exon2:c.612dupT:p.G205fs 0.0006 PP2D1
chr14 20060290 rs33965693 OR4L1 OR4L1:NM_001004717:exon1:c.246_264del:p.I82fs 0.4485 OR4L1
chr22 20112643 rs554627514 TRMT2A TRMT2A:NM_022727:exon12:c.1797dupG:p.P600fs
TRMT2A:NM_182984:exon13:c.1797dupG:p.P600fs
0.0094 TRMT2A
chr20 20166436 rs757088492 CFAP61 CFAP61:NM_001167816:exon11:c.1245delT:p.S415fs
CFAP61:NM_015585:exon12:c.1245delT:p.S415fs
4.284E-05 CFAP61
chr14 20198016 rs77164062 OR11G2 OR11G2:NM_001005503:exon1:c.682dupA:p.C227fs 0.6774 OR11G2
chr17 20467469 rs554373055 LGALS9B LGALS9B:NM_001042685:exon1:c.1_2insGA:p.M1fs 0.0489 LGALS9B
chr15 20534663 rs754377252 GOLGA6L6 GOLGA6L6:NM_001145004:exon8:c.1770dupG:p.Q591fs 0.0113 GOLGA6L6
chr19 20624328 . ZNF626 ZNF626:NM_001076675:exon4:c.1383_1549del:p.A461fs 0.0051 ZNF626
chr19 20624371 rs71174721 ZNF626 ZNF626:NM_001076675:exon4:c.1505dupT:p.I502fs 0.2902 ZNF626
chr14 20693749 rs747227363 ANG ANG:NM_001097577:exon2:c.185_186insCTGCA:p.P62fs
ANG:NM_001145:exon2:c.185_186insCTGCA:p.P62fs
4.942E-05 ANG
chr16 20790628 rs770046133 ACSM3 ACSM3:NM_005622:exon10:c.1267dupG:p.E422fs 0.0004 ACSM3
chr20 21126073 rs5840900 KIZ KIZ:NM_001276389:exon1:c.38dupG:p.R13fs 0.6789 KIZ
chr10 21146412 rs72102767 C10orf113 C10orf113:NM_001010896:exon1:c.94_97del:p.S32fs
C10orf113:NM_001177483:exon1:c.94_97del:p.S32fs
0.2139 C10orf113
chr13 21158125 rs754879051 SKA3 SKA3:NM_001166017:exon7:c.915_916insCTTTG:p.V306fs
SKA3:NM_145061:exon7:c.915_916insCTTTG:p.V306fs
0.0466 SKA3
chr13 21159987 rs758463308 SKA3 SKA3:NM_001166017:exon6:c.829_830insTG:p.D277fs
SKA3:NM_145061:exon6:c.829_830insTG:p.D277fs
. SKA3
chr13 21172462 rs151272242 SKA3 SKA3:NM_001166017:exon3:c.208delC:p.Q70fs
SKA3:NM_145061:exon3:c.208delC:p.Q70fs
0.1499 SKA3
chr13 21172504 rs777180552 SKA3 SKA3:NM_001166017:exon3:c.165_166insCG:p.D56fs
SKA3:NM_145061:exon3:c.165_166insCG:p.D56fs
0.0026 SKA3
chr9 21228003 rs200400518 IFNA17 IFNA17:NM_021268:exon1:c.170dupA:p.H57fs 0.0246 IFNA17
chr1 21290195 rs564051666 ECE1 ECE1:NM_001113349:exon1:c.3_4insTG:p.E2fs 0.0002 ECE1
chr17 21298887 rs777079581 MAP2K3 MAP2K3:NM_002756:exon3:c.39_40insAACCTGGA:p.R13fs
MAP2K3:NM_145109:exon3:c.126_127insAACCTGGA:p.R42fs
8.241E-06 MAP2K3
chr9 21409222 rs769489330 IFNA8 IFNA8:NM_002170:exon1:c.47dupA:p.Y16_K17delinsX 5.768E-05 IFNA8
chr19 21537633 rs199679715 ZNF429 ZNF429:NM_001001415:exon4:c.1580delA:p.H527fs 0.014 ZNF429
chr10 22003351 rs575609970 DNAJC1 DNAJC1:NM_022365:exon1:c.83_84insCA:p.R28fs 0.0026 DNAJC1
chr10 22003352 rs758795091 DNAJC1 DNAJC1:NM_022365:exon1:c.82dupC:p.R28fs 0.0037 DNAJC1
chr16 22008326 rs201044196 C16orf52 C16orf52:NM_001164579:exon1:c.25delG:p.G9fs 0.144 C16orf52
chr19 22391514 rs376917182 ZNF98 ZNF98:NM_001098626:exon4:c.1719_1841del:p.*573fs 0.0032 ZNF98
chr9 22447564 rs777129344 DMRTA1 DMRTA1:NM_022160:exon1:c.499delC:p.P167fs 9.835E-05 DMRTA1
chr16 22534104 . NPIPB5 NPIPB5:NM_001135865:exon7:c.1121_1125del:p.L374fs . NPIPB5
chr16 22534108 . NPIPB5 NPIPB5:NM_001135865:exon7:c.1125_1126insGGGGG:p.H375fs . NPIPB5
chr16 22534710 rs779452867 NPIPB5 NPIPB5:NM_001135865:exon7:c.1727_1728insCGAG:p.A576fs 0.0005 NPIPB5
chr16 22534711 rs768421366 NPIPB5 NPIPB5:NM_001135865:exon7:c.1728_1729insGAGCG:p.A576fs 0.0009 NPIPB5
chr8 22572345 rs764565352 SORBS3 SORBS3:NM_001018003:exon9:c.827delG:p.R276fs
SORBS3:NM_005775:exon20:c.1853delG:p.R618fs
8.265E-06 SORBS3
chr11 22625326 rs587778340 FANCF FANCF:NM_022725:exon1:c.484_485del:p.L162fs 8.343E-05 FANCF
chr8 22713395 rs398102329 PEBP4 PEBP4:NM_144962:exon7:c.659delA:p.N220fs 0.3129 PEBP4
chr19 22757390 rs200518184 ZNF99 ZNF99:NM_001080409:exon4:c.2518_2519insC:p.M840fs 0.0842 ZNF99
chr15 22866846 . NIPA2 NIPA2:NM_001008894:exon5:c.1025_1400del:p.*342fs
NIPA2:NM_001008892:exon6:c.1082_1457del:p.*361fs
NIPA2:NM_001184888:exon6:c.1025_1548del:p.*342fs
NIPA2:NM_001008860:exon7:c.1082_1593del:p.*361fs
NIPA2:NM_030922:exon8:c.1082_1715del:p.*361fs
NIPA2:NM_001184889:exon10:c.1082_1940del:p.*361fs
. NIPA2
chr14 22904999 rs780057077 RBM23 RBM23:NM_001077352:exon7:c.637_638insA:p.R213fs
RBM23:NM_018107:exon8:c.691_692insA:p.R231fs
RBM23:NM_001077351:exon9:c.739_740insA:p.R247fs
0.0002 RBM23
chr14 22998741 rs778286970 C14orf93 C14orf93:NM_001130708:exon2:c.282_283insAGAAGTTGATGCTTCCTACCTGTTGGAGCGGCCCAGCAGT:p.E95_E96delinsRSX
C14orf93:NM_001282970:exon2:c.282_283insAGAAGTTGATGCTTCCTACCTGTTGGAGCGGCCCAGCAGT:p.E95_E96delinsRSX
C14orf93:NM_021944:exon2:c.282_283insAGAAGTTGATGCTTCCTACCTGTTGGAGCGGCCCAGCAGT:p.E95_E96delinsRSX
C14orf93:NM_001130706:exon3:c.282_283insAGAAGTTGATGCTTCCTACCTGTTGGAGCGGCCCAGCAGT:p.E95_E96delinsRSX
8.249E-06 C14orf93
chr8 23114670 . TNFRSF10C TNFRSF10C:NM_003841:exon3:c.180_187del:p.S60fs . TNFRSF10C
chr19 23145949 rs529180941 ZNF730 ZNF730:NM_001277403:exon4:c.906dupT:p.H302fs 0.0039 ZNF730
chr7 23185153 rs758695627 NUPL2 NUPL2:NM_007342:exon2:c.206dupG:p.W69fs 0.0002 NUPL2
chr8 23201914 . TNFRSF10A TNFRSF10A:NM_003844:exon4:c.523delG:p.E175fs . TNFRSF10A
chr14 23275572 rs541083886 HOMEZ HOMEZ:NM_020834:exon2:c.1653_1801del:p.*551fs 0.0037 HOMEZ
chr14 23275614 rs778848697 HOMEZ HOMEZ:NM_020834:exon2:c.1614delT:p.D538fs 0.0031 HOMEZ
chr14 23275616 rs745787648 HOMEZ HOMEZ:NM_020834:exon2:c.1608_1612del:p.E536fs 0.0031 HOMEZ
chr15 23440017 rs796520023 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.2457dupG:p.P820fs . GOLGA6L2
chr15 23440078 rs765480707 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.2396dupC:p.A799fs 0.0973 GOLGA6L2
chr15 23440099 rs764239510 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.2375dupC:p.A792fs 0.0008 GOLGA6L2
chr15 23440320 rs745321745 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.2155delA:p.R719fs 0.0015 GOLGA6L2
chr15 23440395 rs375981990 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.2080delA:p.R694fs 0.9832 GOLGA6L2
chr15 23440458 rs763821476 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.2017delG:p.E673fs 0.3942 GOLGA6L2
chr15 23440460 rs756870099 GOLGA6L2 GOLGA6L2:NM_001304388:exon8:c.1975_2015del:p.E659fs 0.3985 GOLGA6L2
chr16 23650838 rs531068514 DCTN5 DCTN5:NM_001199011:exon3:c.201dupA:p.V67fs 0.0072 DCTN5
chr7 23691590 rs553824715 FAM221A FAM221A:NM_001127365:exon3:c.457delG:p.G153fs
FAM221A:NM_001300932:exon3:c.457delG:p.G153fs
FAM221A:NM_001127364:exon4:c.631delG:p.G211fs
FAM221A:NM_199136:exon4:c.631delG:p.G211fs
0.0039 FAM221A
chr19 23744940 rs796705581 ZNF681 ZNF681:NM_138286:exon4:c.609_610del:p.C203fs 0.1679 ZNF681
chr1 23816737 . HMGCL HMGCL:NM_000191:exon4:c.286delC:p.Q96fs
HMGCL:NM_001166059:exon4:c.286delC:p.Q96fs
. HMGCL
chr19 23933080 rs757549999 ZNF726 ZNF726:NM_001244038:exon4:c.964_967del:p.F322fs 2.549E-05 ZNF726
chr14 24001481 rs368539076 DHRS4L2 DHRS4L2:NM_001193637:exon4:c.203_204insA:p.L68fs
DHRS4L2:NM_001193636:exon6:c.326_327insA:p.L109fs
DHRS4L2:NM_198083:exon6:c.629_630insA:p.L210fs
DHRS4L2:NM_001193635:exon7:c.443_444insA:p.L148fs
0.0243 DHRS4L2
chr14 24141298 rs757253924 EMC9 EMC9:NM_016049:exon2:c.7delG:p.E3fs 0.0002 EMC9
chr14 24214061 rs869308803 MDP1,NEDD8-MDP1 MDP1:NM_001199821:exon5:c.354delT:p.F118fs 0.1118 MDP1,NEDD8-MDP1
chrX 24364294 . SUPT20HL1 SUPT20HL1:NM_001136234:exon1:c.1534delG:p.A512fs . SUPT20HL1
chrX 24364296 rs770757321 SUPT20HL1 SUPT20HL1:NM_001136234:exon1:c.1536_1576del:p.A512fs 0 SUPT20HL1
chr14 24440419 rs781376693 SDR39U1 SDR39U1:NM_001290293:exon4:c.222delC:p.P74fs
SDR39U1:NM_001290292:exon5:c.300delC:p.P100fs
SDR39U1:NM_020195:exon6:c.546delC:p.P182fs
9.699E-06 SDR39U1
chr18 24468871 rs543735888 HRH4 HRH4:NM_021624:exon2:c.277_280del:p.T93fs 0.0005 HRH4
chr6 24667265 rs555136655 ACOT13 ACOT13:NM_018473:exon1:c.2delT:p.M1fs 0.0011 ACOT13
chr6 24697904 rs752469354 ACOT13 ACOT13:NM_018473:exon2:c.103delC:p.P35fs
ACOT13:NM_001160094:exon3:c.34delC:p.P12fs
0.0004 ACOT13
chr4 24873688 . CCDC149 CCDC149:NM_001130726:exon3:c.256dupA:p.R86fs
CCDC149:NM_173463:exon4:c.256dupA:p.R86fs
. CCDC149
chr13 24909868 rs754392865 CENPJ CENPJ:NM_018451:exon4:c.784_787del:p.N262fs 0.0009 CENPJ
chr13 24909874 rs757244367 CENPJ CENPJ:NM_018451:exon4:c.777_781del:p.A259fs 0.0009 CENPJ
chr10 25025350 rs139207606 THNSL1 THNSL1:NM_024838:exon3:c.2127_2130del:p.L709fs 0.0004 THNSL1
chr13 25096663 . PABPC3 PABPC3:NM_030979:exon1:c.465_466insG:p.I155fs . PABPC3
chr13 25096959 rs140090397 PABPC3 PABPC3:NM_030979:exon1:c.761_762insT:p.K254fs 0.1057 PABPC3
chr13 25097017 . PABPC3 PABPC3:NM_030979:exon1:c.819_822del:p.Q273fs . PABPC3
chr13 25097026 . PABPC3 PABPC3:NM_030979:exon1:c.828_832del:p.L276fs . PABPC3
chr13 25097135 rs376589131 PABPC3 PABPC3:NM_030979:exon1:c.937delG:p.A313fs . PABPC3
chr13 25097173 rs371130768 PABPC3 PABPC3:NM_030979:exon1:c.975_979del:p.V325fs . PABPC3
chr13 25097195 rs371570689 PABPC3 PABPC3:NM_030979:exon1:c.997delA:p.K333fs . PABPC3
chr1 25835139 rs748188992 AUNIP AUNIP:NM_001287490:exon3:c.928delA:p.T310fs
AUNIP:NM_024037:exon3:c.928delA:p.T310fs
7.419E-05 AUNIP
chr1 25974613 rs547949556 PAFAH2 PAFAH2:NM_000437:exon9:c.796delG:p.E266fs 0.0002 PAFAH2
chr6 26055843 rs781177240 HIST1H1C HIST1H1C:NM_005319:exon1:c.585_586insG:p.K196fs 8.248E-06 HIST1H1C
chr6 26055844 rs745616571 HIST1H1C HIST1H1C:NM_005319:exon1:c.584_585insGAAGGCCGCTAAGGCTGTGAAGC:p.P195fs 8.246E-06 HIST1H1C
chr10 26173830 rs757810767 MYO3A MYO3A:NM_017433:exon30:c.3567dupA:p.P1189fs 5.833E-05 MYO3A
chr7 26206510 . CBX3 CBX3:NM_007276:exon3:c.168dupT:p.D56fs
CBX3:NM_016587:exon3:c.168dupT:p.D56fs
. CBX3
chr7 26206510 . CBX3 CBX3:NM_007276:exon3:c.167_168insTGCTGACAATACTT:p.D56fs
CBX3:NM_016587:exon3:c.167_168insTGCTGACAATACTT:p.D56fs
. CBX3
chr7 26206510 . CBX3 CBX3:NM_007276:exon3:c.167_168insTGCTGACAATACTTGG:p.D56fs
CBX3:NM_016587:exon3:c.167_168insTGCTGACAATACTTGG:p.D56fs
. CBX3
chr1 26282335 rs752317296 UBXN11 UBXN11:NM_001077262:exon11:c.1161_1167del:p.P387fs
UBXN11:NM_145345:exon15:c.1422_1428del:p.P474fs
UBXN11:NM_183008:exon16:c.1521_1527del:p.P507fs
0.3841 UBXN11
chr1 26282345 rs757094832 UBXN11 UBXN11:NM_001077262:exon11:c.1141_1157del:p.P381fs
UBXN11:NM_145345:exon15:c.1402_1418del:p.P468fs
UBXN11:NM_183008:exon16:c.1501_1517del:p.P501fs
0.4029 UBXN11
chr1 26282358 rs761408866 UBXN11 UBXN11:NM_001077262:exon11:c.1135_1144del:p.P379fs
UBXN11:NM_145345:exon15:c.1396_1405del:p.P466fs
UBXN11:NM_183008:exon16:c.1495_1504del:p.P499fs
0.3479 UBXN11
chr1 26282369 rs749678087 UBXN11 UBXN11:NM_001077262:exon11:c.1126_1133del:p.G376fs
UBXN11:NM_145345:exon15:c.1387_1394del:p.G463fs
UBXN11:NM_183008:exon16:c.1486_1493del:p.G496fs
0.339 UBXN11
chr1 26282375 rs764852231 UBXN11 UBXN11:NM_001077262:exon11:c.1126_1127del:p.G376fs
UBXN11:NM_145345:exon15:c.1387_1388del:p.G463fs
UBXN11:NM_183008:exon16:c.1486_1487del:p.G496fs
0.3853 UBXN11
chr1 26282378 rs757886085 UBXN11 UBXN11:NM_001077262:exon11:c.1097_1124del:p.C366fs
UBXN11:NM_145345:exon15:c.1358_1385del:p.C453fs
UBXN11:NM_183008:exon16:c.1457_1484del:p.C486fs
0.3359 UBXN11
chr1 26345032 rs759140804 AIM1L AIM1L:NM_001039775:exon2:c.1614_1626del:p.P538fs 0.4586 AIM1L
chr1 26345048 rs755623773 AIM1L AIM1L:NM_001039775:exon2:c.1607_1610del:p.G536fs 0.4885 AIM1L
chr1 26345054 . AIM1L AIM1L:NM_001039775:exon2:c.1571_1604del:p.L524fs 0.5138 AIM1L
chr22 26483979 . SRRD SRRD:NM_001013694:exon1:c.89delG:p.R30fs . SRRD
chr22 26483983 . SRRD SRRD:NM_001013694:exon1:c.93_94insCTCC:p.E31fs . SRRD
chr22 26483994 rs758148663 SRRD SRRD:NM_001013694:exon1:c.104_105del:p.R35fs 0.1691 SRRD
chr22 26484000 rs777125720 SRRD SRRD:NM_001013694:exon1:c.110_128del:p.R37fs 0.2375 SRRD
chr2 27101390 . CGREF1 CGREF1:NM_001166239:exon6:c.829_841del:p.G277fs
CGREF1:NM_006569:exon6:c.829_841del:p.G277fs
. CGREF1
chr2 27101404 . CGREF1 CGREF1:NM_001166239:exon6:c.790_827del:p.E264fs
CGREF1:NM_006569:exon6:c.790_827del:p.E264fs
. CGREF1
chr1 27366348 . MAP3K6 MAP3K6:NM_001297609:exon1:c.250delC:p.R84fs
MAP3K6:NM_004672:exon1:c.250delC:p.R84fs
. MAP3K6
chr1 27373180 rs755614878 FCN3 FCN3:NM_173452:exon4:c.316delC:p.L106fs
FCN3:NM_003665:exon5:c.349delC:p.L117fs
0.0166 FCN3
chr2 27378843 . ZNF513 ZNF513:NM_001201459:exon2:c.237delG:p.G79fs
ZNF513:NM_144631:exon3:c.423delG:p.G141fs
. ZNF513
chr9 27524366 rs376708678 IFNK IFNK:NM_020124:exon1:c.30_31insTGTT:p.K10fs 0.0295 IFNK
chr2 27627062 rs199568016 CCDC121 CCDC121:NM_001142683:exon2:c.1223_1224del:p.R408fs
CCDC121:NM_024584:exon2:c.737_738del:p.R246fs
0.0104 CCDC121
chr12 27696993 rs756604962 REP15 REP15:NM_001029874:exon1:c.431_435del:p.R144fs 1.652E-05 REP15
chrX 27747318 rs796888665 DCAF8L2 DCAF8L2:NM_001136533:exon1:c.423_424del:p.E141fs 0.0001 DCAF8L2
chrX 27747321 rs772575492 DCAF8L2 DCAF8L2:NM_001136533:exon1:c.426_432del:p.E142fs 0.0001 DCAF8L2
chr6 27831278 rs561516608 HIST1H4K HIST1H4K:NM_003541:exon1:c.240_250del:p.K80fs 0.0004 HIST1H4K
chr17 28326780 rs781830688 TMEM97 TMEM97:NM_014573:exon3:c.519dupA:p.R173fs 0.0075 TMEM97
chr6 28391325 rs371660996 ZSCAN12 ZSCAN12:NM_001163391:exon4:c.965delT:p.I322fs 0.0125 ZSCAN12
chr8 28447196 rs568586909 FBXO16 FBXO16:NM_001258211:exon6:c.778_782del:p.R260fs
FBXO16:NM_172366:exon7:c.814_818del:p.R272fs
0.0012 FBXO16
chr1 28459218 rs761437290 PHACTR4 PHACTR4:NM_023923:exon2:c.181dupA:p.R60fs
PHACTR4:NM_001048183:exon3:c.151dupA:p.R50fs
0.0028 PHACTR4
chr16 28593251 rs376634248 SULT1A2 SULT1A2:NM_001054:exon6:c.593_594del:p.E198fs
SULT1A2:NM_177528:exon6:c.593_594del:p.E198fs
0.0008 SULT1A2
chr17 28598926 rs575381663 SPAG5 SPAG5:NM_006461:exon1:c.20_21del:p.L7fs 0.0016 SPAG5
chr21 28966884 rs560176639 LTN1 LTN1:NM_015565:exon10:c.1745delA:p.N582fs 0.2469 LTN1
chr12 29444249 rs554695034 OVCH1 OVCH1:NM_183378:exon24:c.2909_2913del:p.L970fs 0.0008 OVCH1
chr17 29761227 rs111727573 SSH2 SSH2:NM_001282131:exon1:c.51delC:p.T17fs 0.0257 SSH2
chr6 29943335 rs757867739 HLA-A HLA-A:NM_001242758:exon3:c.411_412del:p.Y137fs
HLA-A:NM_002116:exon3:c.411_412del:p.Y137fs
0.0192 HLA-A
chr6 29943338 rs757622018 HLA-A HLA-A:NM_001242758:exon3:c.414_415insAA:p.R138fs
HLA-A:NM_002116:exon3:c.414_415insAA:p.R138fs
0.0187 HLA-A
chr8 30132782 rs752614032 MBOAT4 MBOAT4:NM_001100916:exon3:c.466_469del:p.S156fs 0.0015 MBOAT4
chr21 30282837 rs533225129 KRTAP24-1 KRTAP24-1:NM_001085455:exon1:c.96delT:p.V32fs 0.0024 KRTAP24-1
chr21 30396143 rs536788134 KRTAP13-1 KRTAP13-1:NM_181599:exon1:c.57_66del:p.L19fs 0.0026 KRTAP13-1
chr21 30541663 rs5843453 KRTAP19-6;KRTAP19-6 KRTAP19-6:NM_181612:exon1:c.171delC:p.F57fs 0.7273 KRTAP19-6;KRTAP19-6
chr14 30605565 rs766135291 G2E3 G2E3:NM_017769:exon11:c.1072dupA:p.I357fs 0.0232 G2E3
chr3 30650379 rs756007977 TGFBR2 TGFBR2:NM_003242:exon3:c.374dupA:p.E125fs
TGFBR2:NM_001024847:exon4:c.449dupA:p.E150fs
0.0005 TGFBR2
chr13 30713841 rs61072483 ALOX5AP ALOX5AP:NM_001204406:exon1:c.116_117insGTGT:p.W39fs 0.272 ALOX5AP
chr3 30778217 rs375804706 GADL1 GADL1:NM_207359:exon14:c.1353_1354del:p.E451fs 0.0006 GADL1
chr16 30899418 . CTF1 CTF1:NM_001142544:exon2:c.27dupC:p.D9fs
CTF1:NM_001330:exon2:c.30dupC:p.D10fs
. CTF1
chr18 30996900 rs752923110 DSC3 DSC3:NM_001941:exon15:c.2383dupG:p.A795fs
DSC3:NM_024423:exon15:c.2383dupG:p.A795fs
0.0003 DSC3
chr6 31138723 rs375095896 PSORS1C1 PSORS1C1:NM_014068:exon5:c.112dupC:p.R37fs 0.1447 PSORS1C1
chr15 31229303 rs796145129 LOC283710 LOC283710:NM_001243538:exon2:c.76delC:p.R26fs 0.3055 LOC283710
chr20 31303370 rs770528706 DEFB116 DEFB116:NM_001037731:exon2:c.151delT:p.C51fs 3.314E-05 DEFB116
chr6 31356428 rs760342210 HLA-B HLA-B:NM_005514:exon3:c.357_358insGG:p.Q120fs 0.0708 HLA-B
chr6 31356431 rs753354858 HLA-B HLA-B:NM_005514:exon3:c.354_355del:p.T118fs 0.073 HLA-B
chr6 31356711 rs375356947 HLA-B HLA-B:NM_005514:exon2:c.319_320insCTCC:p.G107fs 0.1333 HLA-B
chr6 31356716 rs749699159 HLA-B HLA-B:NM_005514:exon2:c.315delG:p.L105fs 0.1298 HLA-B
chr2 31403104 rs773456900 XDH XDH:NM_000379:exon3:c.140dupG:p.G47fs 0.0002 XDH
chr18 31413203 . DSG4 DSG4:NM_001134453:exon15:c.2789dupA:p.Y930_G931delinsX
DSG4:NM_177986:exon16:c.2732dupA:p.Y911_G912delinsX
. DSG4
chr16 31464917 rs768159977 ARMC5 ARMC5:NM_024742:exon4:c.1894delC:p.P632fs 8.548E-06 ARMC5
chr7 31658299 rs567140275 CCDC129 CCDC129:NM_001257968:exon15:c.3097dupT:p.P1032fs 0.3875 CCDC129
chr7 31658299 rs567140275 CCDC129 CCDC129:NM_001257968:exon15:c.3096_3097insTT:p.P1032fs 0.021 CCDC129
chr16 31759375 rs398119344 ZNF720 ZNF720:NM_001130913:exon5:c.381dupA:p.X127delinsX 0.5762 ZNF720
chr16 31915098 rs753311030 ZNF267 ZNF267:NM_003414:exon4:c.849_853del:p.I283fs
ZNF267:NM_001265588:exon5:c.753_757del:p.I251fs
0.0006 ZNF267
chr16 31915102 rs756697711 ZNF267 ZNF267:NM_003414:exon4:c.853_854insGG:p.H285fs
ZNF267:NM_001265588:exon5:c.757_758insGG:p.H253fs
0.0006 ZNF267
chr1 32205958 rs528383763 IQCC IQCC:NM_001160042:exon1:c.278dupT:p.L93fs 0.0023 IQCC
chr22 32225669 . SLC5A4 SLC5A4:NM_014227:exon12:c.1434_1435del:p.K478fs . SLC5A4
chr1 32361780 . FAM229A FAM229A:NM_001167676:exon2:c.231delC:p.P77fs . FAM229A
chr20 32434600 rs766433101 ASXL1 ASXL1:NM_015338:exon12:c.1888_1910del:p.H630fs 0.0002 ASXL1
chr9 32457309 rs573952640 DDX58 DDX58:NM_014314:exon18:c.2590_2591insTTCT:p.C864fs 0.0006 DDX58
chr9 32488758 rs756983208 DDX58 DDX58:NM_014314:exon7:c.929delT:p.F310fs 0.0002 DDX58
chr6 32530183 rs780712823 HLA-DRB5 HLA-DRB5:NM_002125:exon1:c.41_42del:p.K14fs 0.0907 HLA-DRB5
chr6 32530185 rs749189559 HLA-DRB5 HLA-DRB5:NM_002125:exon1:c.39_40insGC:p.K14fs 0.1239 HLA-DRB5
chr6 32584178 rs778205073 HLA-DRB1 HLA-DRB1:NM_002124:exon2:c.300_301insAG:p.R101fs 0.2396 HLA-DRB1
chr6 32584184 rs796436531 HLA-DRB1 HLA-DRB1:NM_002124:exon2:c.294_295del:p.E98fs 0.1675 HLA-DRB1
chr21 32603260 rs746361802 C21orf59 C21orf59:NM_021254:exon5:c.566_567insAGGCAGAGGC:p.A189fs 0.0002 C21orf59
chr21 32631218 rs749616130 SYNJ1 SYNJ1:NM_001160306:exon28:c.4355_4358del:p.A1452fs
SYNJ1:NM_003895:exon32:c.4613_4616del:p.A1538fs
1.647E-05 SYNJ1
chr21 32631224 rs774895371 SYNJ1 SYNJ1:NM_001160306:exon28:c.4351_4352del:p.S1451fs
SYNJ1:NM_003895:exon32:c.4609_4610del:p.S1537fs
1.647E-05 SYNJ1
chr13 32770442 rs747131399 PDS5B PDS5B:NM_015032:exon32:c.3946delA:p.K1316fs 0.0007 PDS5B
chr13 32770750 . PDS5B PDS5B:NM_015032:exon33:c.4161_4162del:p.P1387fs . PDS5B
chr10 32847891 rs528676800 CCDC7 CCDC7:NM_024688:exon18:c.1476_1477del:p.I492fs 0.0345 CCDC7
chr1 33013400 . AK2 AK2:NM_001199199:exon6:c.476_477insGACAT:p.I159fs
AK2:NM_001625:exon6:c.500_501insGACAT:p.I167fs
AK2:NM_013411:exon6:c.500_501insGACAT:p.I167fs
. AK2
chr15 33067561 rs757756515 FMN1 FMN1:NM_001103184:exon1:c.323dupA:p.Q108fs 2.484E-05 FMN1
chr7 33095236 rs553265417 RP9 RP9:NM_203288:exon6:c.664delT:p.X222D 0.0078 RP9
chr18 33333178 rs535192849 CCDC178 CCDC178:NM_001105528:exon9:c.874dupA:p.M292fs
CCDC178:NM_198995:exon10:c.874dupA:p.M292fs
0.0043 CCDC178
chr21 33576378 rs397829693 SON SON:NM_001291412:exon11:c.1320dupA:p.G440fs
SON:NM_138927:exon12:c.7236dupA:p.G2412fs
1 SON
chr21 33576391 rs34373121 SON SON:NM_001291412:exon11:c.1332delA:p.R444fs
SON:NM_138927:exon12:c.7248delA:p.R2416fs
0.9999 SON
chr9 33795612 rs774484646 PRSS3 PRSS3:NM_002771:exon1:c.40dupG:p.A13fs 3.295E-05 PRSS3
chr15 34103880 rs750450072 PGBD4 PGBD4:NM_152595:exon1:c.1349delT:p.V450fs 0.0003 PGBD4
chr11 34146171 rs549194904 NAT10 NAT10:NM_001144030:exon27:c.2842dupA:p.M947fs
NAT10:NM_024662:exon29:c.3058dupA:p.M1019fs
0.0011 NAT10
chr21 34525224 rs764122887 RCAN1 RCAN1:NM_001285391:exon1:c.191delA:p.Q64fs 0.0007 RCAN1
chr19 34684172 . ZNF302 ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs
ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs
ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs
ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs
ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs
ZNF302:NM_018675:exon5:c.395_929del:p.*132fs
. ZNF302
chr19 34684172 rs756142003 ZNF302 ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs
ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs
ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs
ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs
ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs
ZNF302:NM_018675:exon5:c.395_929del:p.*132fs
. ZNF302
chr19 34684172 . ZNF302 ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs
ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs
ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs
ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs
ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs
ZNF302:NM_018675:exon5:c.395_929del:p.*132fs
. ZNF302
chr19 34684172 . ZNF302 ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs
ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs
ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs
ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs
ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs
ZNF302:NM_018675:exon5:c.395_929del:p.*132fs
. ZNF302
chr19 34684172 rs752404761 ZNF302 ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs
ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs
ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs
ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs
ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs
ZNF302:NM_018675:exon5:c.395_929del:p.*132fs
0.0078 ZNF302
chr19 34684172 rs757903161 ZNF302 ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs
ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs
ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs
ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs
ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs
ZNF302:NM_018675:exon5:c.395_929del:p.*132fs
0.0131 ZNF302
chr19 34759786 rs148227520 ZNF599 ZNF599:NM_001007248:exon4:c.1014_1015del:p.L338fs 0.0119 ZNF599
chr5 34840736 rs773689853 TTC23L TTC23L:NM_144725:exon2:c.65_68del:p.H22fs 0.0012 TTC23L
chr11 34916428 . PDHX PDHX:NM_001135024:exon1:c.57delG:p.P19fs . PDHX
chr6 35141213 rs142993601 TCP11 TCP11:NM_001093728:exon1:c.17delG:p.G6fs
TCP11:NM_001261817:exon1:c.17delG:p.G6fs
TCP11:NM_001261818:exon1:c.17delG:p.G6fs
TCP11:NM_001261819:exon1:c.17delG:p.G6fs
0.331 TCP11
chr22 35265551 rs774824276 HMGXB4 HMGXB4:NM_001003681:exon5:c.1163delA:p.E388fs 0.0189 HMGXB4
chr22 35265582 rs760766503 HMGXB4 HMGXB4:NM_001003681:exon5:c.1194_1195del:p.K398fs 0.0104 HMGXB4
chr17 35422473 rs780405441 SLFN12 SLFN12:NM_001289009:exon2:c.555dupT:p.D186_R187delinsX
SLFN12:NM_018042:exon2:c.555dupT:p.D186_R187delinsX
0.0002 SLFN12
chr17 35479823 rs143471015 SLFN12L SLFN12L:NM_001195790:exon2:c.387delC:p.S129fs 0.0304 SLFN12L
chr19 35511478 rs747005499 DMKN DMKN:NM_001126057:exon5:c.850_851insCA:p.G284fs
DMKN:NM_001126058:exon5:c.850_851insCA:p.G284fs
DMKN:NM_001190348:exon5:c.850_851insCA:p.G284fs
DMKN:NM_001190349:exon5:c.850_851insCA:p.G284fs
DMKN:NM_033317:exon5:c.850_851insCA:p.G284fs
0.027 DMKN
chr19 35511479 rs776176602 DMKN DMKN:NM_001126057:exon5:c.849_850insAGCAGCAGTG:p.G284fs
DMKN:NM_001126058:exon5:c.849_850insAGCAGCAGTG:p.G284fs
DMKN:NM_001190348:exon5:c.849_850insAGCAGCAGTG:p.G284fs
DMKN:NM_001190349:exon5:c.849_850insAGCAGCAGTG:p.G284fs
DMKN:NM_033317:exon5:c.849_850insAGCAGCAGTG:p.G284fs
0.0293 DMKN
chr9 35561915 . FAM166B FAM166B:NM_001287239:exon6:c.873_874insAGGGTGGG:p.G292fs . FAM166B
chr9 35561916 rs575369646 FAM166B FAM166B:NM_001287239:exon6:c.866_873del:p.E289fs 0.4167 FAM166B
chr9 35562396 rs3068510 FAM166B FAM166B:NM_001287239:exon5:c.676_677insACTA:p.M226fs 0.1392 FAM166B
chr9 35562396 rs142582869 FAM166B FAM166B:NM_001164310:exon5:c.722_723insACTAACTA:p.Y241_G242delinsX
FAM166B:NM_001287238:exon5:c.686_687insACTAACTA:p.Y229_G230delinsX
FAM166B:NM_001287239:exon5:c.676_677insACTAACTA:p.M226_G227delinsNX
0.0001 FAM166B
chr20 35627312 rs147019139 CPNE1 CPNE1:NM_001198863:exon14:c.1203dupT:p.A402fs
CPNE1:NM_003915:exon14:c.1218dupT:p.A407fs
CPNE1:NM_152925:exon14:c.1203dupT:p.A402fs
CPNE1:NM_152926:exon14:c.1203dupT:p.A402fs
CPNE1:NM_152927:exon15:c.1203dupT:p.A402fs
CPNE1:NM_152928:exon15:c.1203dupT:p.A402fs
0.1065 CPNE1
chr19 35675887 rs542695953 UPK1A UPK1A:NM_001281443:exon6:c.516_517insA:p.T172fs
UPK1A:NM_007000:exon6:c.516_517insA:p.T172fs
4.976E-05 UPK1A
chr19 35675890 rs753709696 UPK1A UPK1A:NM_001281443:exon6:c.519_520insCC:p.S173fs
UPK1A:NM_007000:exon6:c.519_520insCC:p.S173fs
4.974E-05 UPK1A
chr5 35705792 rs750890082 SPEF2 SPEF2:NM_024867:exon18:c.2649delA:p.A883fs 0.0046 SPEF2
chr9 35906603 rs79156963 HRCT1 HRCT1:NM_001039792:exon1:c.316_317insA:p.P106fs 0.0278 HRCT1
chr9 35906604 . HRCT1 HRCT1:NM_001039792:exon1:c.317_318insCA:p.P106fs . HRCT1
chr22 36141596 rs561665577 APOL3 APOL3:NM_145640:exon3:c.813delT:p.R271fs
APOL3:NM_145642:exon4:c.213delT:p.R71fs
APOL3:NM_145641:exon5:c.213delT:p.R71fs
0.0001 APOL3
chrX 36144567 rs752519501 CHDC2 CHDC2:NM_173695:exon11:c.1267_1268insTG:p.L423fs 0.2035 CHDC2
chr18 36681496 rs144071785 FHOD3 FHOD3:NM_001281739:exon12:c.1371_1372del:p.A457fs
FHOD3:NM_025135:exon12:c.1371_1372del:p.A457fs
FHOD3:NM_001281740:exon15:c.1896_1897del:p.A632fs
0.0246 FHOD3
chr6 36986144 rs35538959 MTCH1 MTCH1:NM_001271641:exon1:c.30delC:p.P10fs
MTCH1:NM_014341:exon1:c.30delC:p.P10fs
0.1132 MTCH1
chr13 37008105 rs755140645 EXOSC8 EXOSC8:NM_181503:exon9:c.536_540del:p.V179fs 0.0001 EXOSC8
chrX 37010315 rs782157289 FAM47C FAM47C:NM_001013736:exon1:c.1905_1915del:p.P635fs 3.51E-05 FAM47C
chrX 37010333 rs781802309 FAM47C FAM47C:NM_001013736:exon1:c.1923_1944del:p.S641fs 3.477E-05 FAM47C
chr20 37179387 rs11467214 MROH8 UNKNOWN 0.2173 MROH8
chr20 37179387 rs57415986 MROH8 UNKNOWN 0.7752 MROH8
chr3 37327438 . GOLGA4 GOLGA4:NM_002078:exon14:c.5552delT:p.I1851fs
GOLGA4:NM_001172713:exon15:c.5618delT:p.I1873fs
. GOLGA4
chr19 37388950 rs376931538 ZNF527 ZNF527:NM_032453:exon5:c.901_902insTGTG:p.P301fs 0.0971 ZNF527
chr19 37388953 rs200420244 ZNF527 ZNF527:NM_032453:exon5:c.904delT:p.Y302fs 0.0995 ZNF527
chr19 37565288 rs531640879 ZNF571 ZNF571:NM_016536:exon4:c.1137_1140del:p.T379fs
ZNF571:NM_001290314:exon5:c.1137_1140del:p.T379fs
0.0006 ZNF571
chr19 37698337 rs759821548 ZNF607 ZNF607:NM_001172677:exon5:c.1790_1791del:p.F597fs
ZNF607:NM_032689:exon5:c.1793_1794del:p.F598fs
8.242E-05 ZNF607
chr19 37886586 rs151219712 WDR87 WDR87:NM_001291088:exon6:c.7082_7085del:p.S2361fs
WDR87:NM_031951:exon6:c.6965_6968del:p.S2322fs
0.0051 WDR87
chr10 37953053 rs751295761 ZNF25 ZNF25:NM_145011:exon6:c.444_445del:p.C148fs 4.119E-05 ZNF25
chr4 37960988 rs200376306 PTTG2 PTTG2:NM_006607:exon1:c.554_555del:p.H185fs 0.0134 PTTG2
chr3 37998133 rs751305489 VILL VILL:NM_015873:exon7:c.809dupC:p.T270fs 7.465E-05 VILL
chr22 38088756 rs748554012 BAIAP2L2 BAIAP2L2:NM_025045:exon10:c.1109dupG:p.G370fs 1.043E-05 BAIAP2L2
chr22 38088821 . BAIAP2L2 BAIAP2L2:NM_025045:exon10:c.1044_1045insTCTCCGCT:p.G349fs . BAIAP2L2
chr14 38210558 rs775405351 SSTR1 SSTR1:NM_001049:exon3:c.1169_1170insGCTCTGAGCCCGGGCCACGCAGGG:p.T390delinsTLX 0.0037 SSTR1
chr3 38307656 rs138257211 SLC22A14 SLC22A14:NM_004803:exon3:c.711_714del:p.Y237fs 0.0245 SLC22A14
chr5 38445683 rs558408507 EGFLAM EGFLAM:NM_001205301:exon18:c.2470dupG:p.C823fs 0.0003 EGFLAM
chr22 38673229 rs529665158 CBY1 CBY1:NM_015373:exon5:c.375dupA:p.R125fs
CBY1:NM_001002880:exon6:c.504dupA:p.R168fs
0.0007 CBY1
chr15 38696725 rs767804676 C15orf53 C15orf53:NM_207444:exon1:c.118_119del:p.S40fs 0.0003 C15orf53
chr2 38847043 rs778129473 DHX57 DHX57:NM_198963:exon11:c.2195delT:p.L732fs 0.0002 DHX57
chr3 38946838 rs780082897 SCN11A SCN11A:NM_014139:exon2:c.336dupT:p.G113fs
SCN11A:NM_001287223:exon3:c.336dupT:p.G113fs
. SCN11A
chr22 38991391 rs368511533 APOBEC3B APOBEC3B:NM_004900:exon6:c.783delG:p.L261fs 0.008 APOBEC3B
chr22 39081518 rs755278211 APOBEC3G APOBEC3G:NM_021822:exon4:c.514delT:p.F172fs 0.0005 APOBEC3G
chr21 39199144 rs767361479 BRWD1 BRWD1:NM_018963:exon40:c.5272delG:p.E1758fs
BRWD1:NM_033656:exon40:c.5272delG:p.E1758fs
0.0002 BRWD1
chr21 39199148 rs750059086 BRWD1 BRWD1:NM_018963:exon40:c.5267dupC:p.S1756fs
BRWD1:NM_033656:exon40:c.5267dupC:p.S1756fs
0.0002 BRWD1
chr7 39339680 rs766603583 POU6F2 POU6F2:NM_001166018:exon6:c.550_551insA:p.L184fs
POU6F2:NM_007252:exon6:c.550_551insA:p.L184fs
0.0006 POU6F2
chr7 39339682 rs754399260 POU6F2 POU6F2:NM_001166018:exon6:c.552_553insAG:p.L184fs
POU6F2:NM_007252:exon6:c.552_553insAG:p.L184fs
0.0005 POU6F2
chr21 39452058 rs547171399 SH3BGR SH3BGR:NM_007341:exon1:c.151_152del:p.R51fs 0.0017 SH3BGR
chr19 39507932 rs776323833 DLL3 DLL3:NM_016941:exon8:c.1776delC:p.F592fs 1.656E-05 DLL3
chr17 40701883 rs11309872 KRT24 KRT24:NM_019016:exon2:c.666delT:p.N222fs 0.4839 KRT24
chr13 40729409 . MRPS31 MRPS31:NM_005830:exon7:c.1151delA:p.K384fs . MRPS31
chr17 40770263 rs568008639 KRT26 KRT26:NM_181539:exon3:c.670dupA:p.S224fs 0.0006 KRT26
chr15 40807701 rs371684343 ZFYVE19 ZFYVE19:NM_001077268:exon1:c.112_113insGGGGC:p.W38fs
ZFYVE19:NM_001258420:exon1:c.112_113insGGGGC:p.W38fs
0.3555 ZFYVE19
chr17 40818897 rs781768887 KRT10 KRT10:NM_000421:exon7:c.1637_1638del:p.S546fs 0.0001 KRT10
chr17 40818900 rs769795211 KRT10 KRT10:NM_000421:exon7:c.1635delC:p.G545fs 0.0002 KRT10
chr5 41000749 rs548836249 MROH2B MROH2B:NM_173489:exon38:c.4278dupT:p.A1427fs 0.0094 MROH2B
chr1 41020226 rs778168465 SLFNL1 SLFNL1:NM_144990:exon2:c.434_435del:p.E145fs
SLFNL1:NM_001168247:exon3:c.434_435del:p.E145fs
SLFNL1:NM_001300859:exon3:c.434_435del:p.E145fs
2.705E-05 SLFNL1
chr6 41071600 rs759331264 OARD1 OARD1:NM_145063:exon2:c.35delG:p.S12fs 8.237E-06 OARD1
chr19 41116202 rs79756737 CYP2F1 CYP2F1:NM_000774:exon2:c.15dupC:p.S5fs 0.2148 CYP2F1
chr5 41161798 rs779825789 C6 C6:NM_000065:exon10:c.1352dupA:p.Y451_G452delinsX
C6:NM_001115131:exon10:c.1352dupA:p.Y451_G452delinsX
0.0002 C6
chr17 41168096 rs773725608 KRTAP4-3 KRTAP4-3:NM_033187:exon1:c.76_77insAGCTGCT:p.R26fs 0.0012 KRTAP4-3
chr17 41168098 rs775239467 KRTAP4-3 KRTAP4-3:NM_033187:exon1:c.74_75insTATCT:p.C25fs 0.0012 KRTAP4-3
chr17 41168106 rs751597503 KRTAP4-3 KRTAP4-3:NM_033187:exon1:c.66_67insTATCTCC:p.S23fs 0.0004 KRTAP4-3
chr17 41168106 rs751597503 KRTAP4-3 KRTAP4-3:NM_033187:exon1:c.66_67insCTGTATCTCC:p.S23fs 0.0001 KRTAP4-3
chr20 41174261 . PLCG1 PLCG1:NM_002660:exon31:c.3783delC:p.F1261fs
PLCG1:NM_182811:exon31:c.3780delC:p.F1260fs
. PLCG1
chr21 41179188 rs765635467 PLAC4 PLAC4:NM_182832:exon1:c.440_441insGTCCTCACCCTGACACCCTCA:p.H147delinsQSSPX 0.0003 PLAC4
chr21 41179237 rs777842563 PLAC4 PLAC4:NM_182832:exon1:c.371_392del:p.L124fs 0.0009 PLAC4
chr21 41179506 . PLAC4 PLAC4:NM_182832:exon1:c.122_123insTGACACCCTCACTCCTCACCCTGGACACCCTCACTCACCC:p.P41fs 0.0039 PLAC4
chr22 41238083 rs532464664 CHADL CHADL:NM_138481:exon3:c.988_989insGGCGCGCG:p.V330fs . CHADL
chr19 41353015 rs201844761 TGFB1 TGFB1:NM_000660:exon1:c.29_30insT:p.P10fs . TGFB1
chr1 41382209 . FOXO6 FOXO6:NM_001291281:exon3:c.1007_1008insGGGA:p.P336fs . FOXO6
chr1 41382210 . FOXO6 FOXO6:NM_001291281:exon3:c.1008_1009insGCCCGCCTACTTCGGCGGCTGCA:p.P336fs . FOXO6
chr1 41382210 rs373524987 FOXO6 FOXO6:NM_001291281:exon3:c.1008_1009del:p.P336fs 0 FOXO6
chr1 41382212 . FOXO6 FOXO6:NM_001291281:exon3:c.1010_1011insGGAC:p.R337fs . FOXO6
chr1 41382213 rs757106153 FOXO6 FOXO6:NM_001291281:exon3:c.1011_1012insGA:p.R337fs 0 FOXO6
chr17 41437448 rs776403446 KRT38 KRT38:NM_006771:exon7:c.1316_1335del:p.P439fs 7.055E-05 KRT38
chr15 41570699 rs750893216 TYRO3 TYRO3:NM_006293:exon12:c.1579_1580insGAGA:p.G527fs 0.001 TYRO3
chr15 41573467 rs769980669 TYRO3 TYRO3:NM_006293:exon17:c.2145_2146insTGGGCGTTCGGGGTGACCAT:p.V715fs 0.0004 TYRO3
chr4 41646491 rs762205237 LIMCH1 LIMCH1:NM_001112720:exon6:c.765_766del:p.R255fs
LIMCH1:NM_001112719:exon7:c.801_802del:p.R267fs
LIMCH1:NM_001289122:exon11:c.1227_1228del:p.R409fs
LIMCH1:NM_001289124:exon11:c.750_751del:p.R250fs
LIMCH1:NM_001112717:exon12:c.1263_1264del:p.R421fs
LIMCH1:NM_001112718:exon12:c.1263_1264del:p.R421fs
LIMCH1:NM_014988:exon12:c.1263_1264del:p.R421fs
0.0005 LIMCH1
chr3 41819492 rs756382548 ULK4 ULK4:NM_017886:exon19:c.1778dupA:p.K593fs 0.0069 ULK4
chr3 41819493 rs76318575 ULK4 ULK4:NM_017886:exon19:c.1778delA:p.K593fs 0.0073 ULK4
chr15 41835033 rs751624183 JMJD7,JMJD7-PLA2G4B JMJD7:NM_001114632:exon3:c.282_283del:p.V94fs
JMJD7-PLA2G4B:NM_001198588:exon3:c.282_283del:p.V94fs
JMJD7-PLA2G4B:NM_005090:exon3:c.282_283del:p.V94fs
3.301E-05 JMJD7,JMJD7-PLA2G4B
chr15 41876810 rs571677827 SPTBN5 SPTBN5:NM_016642:exon19:c.3828_3850del:p.Q1276fs 0.0073 SPTBN5
chr21 41878845 rs202107842 PRDM15 PRDM15:NM_022115:exon3:c.262dupC:p.R88fs 1 PRDM15
chr21 41879351 rs559089378 PRDM15 PRDM15:NM_001040424:exon1:c.20dupC:p.P7fs
PRDM15:NM_001282934:exon1:c.20dupC:p.P7fs
PRDM15:NM_022115:exon1:c.20dupC:p.P7fs
0.0005 PRDM15
chr17 41965189 rs562989121 TTC25 TTC25:NM_031421:exon12:c.1725delA:p.R575fs 0.0013 TTC25
chr12 42106015 . GXYLT1 GXYLT1:NM_001099650:exon4:c.573_574insAA:p.L192fs
GXYLT1:NM_173601:exon5:c.666_667insAA:p.L223fs
. GXYLT1
chr22 42129891 rs745568317 CYP2D6 CYP2D6:NM_000106:exon2:c.199delG:p.D67fs
CYP2D6:NM_001025161:exon2:c.199delG:p.D67fs
0 CYP2D6
chr12 42313909 rs746839691 ZCRB1 ZCRB1:NM_033114:exon6:c.410dupA:p.K137fs 1.687E-05 ZCRB1
chr1 42536529 rs372826618 CCDC30 CCDC30:NM_001080850:exon2:c.45_46del:p.K15fs 0.1761 CCDC30
chr1 42536529 rs781010749 CCDC30 CCDC30:NM_001080850:exon2:c.45_48del:p.K15fs 5.011E-05 CCDC30
chr22 42571202 rs566977033 SERHL2 SERHL2:NM_001284334:exon8:c.538_539del:p.K180fs
SERHL2:NM_014509:exon10:c.730_731del:p.K244fs
0.0027 SERHL2
chr22 42640101 rs757091725 ATP5L2 ATP5L2:NM_001165877:exon1:c.171_174del:p.V57fs 0.0004 ATP5L2
chr3 42659465 . ZBTB47 ZBTB47:NM_145166:exon2:c.1110delC:p.D370fs . ZBTB47
chr19 42763989 rs398102313 PSG8 PSG8:NM_001130167:exon2:c.357delC:p.S119fs
PSG8:NM_182707:exon2:c.357delC:p.S119fs
0.0754 PSG8
chr10 42792593 rs770953672 BMS1 BMS1:NM_014753:exon7:c.880delA:p.K294fs 0.0002 BMS1
chr10 42798600 . BMS1 BMS1:NM_014753:exon12:c.2222delC:p.A741fs . BMS1
chr13 42888298 rs61389340 EPSTI1 EPSTI1:NM_001002264:exon13:c.1184_1185insCCTGA:p.E395fs 0.0652 EPSTI1
chr6 42979071 . PEX6 PEX6:NM_000287:exon1:c.80delG:p.G27fs . PEX6
chr21 43018230 rs566559360 PKNOX1 PKNOX1:NM_001286258:exon6:c.369_370insGTGC:p.Q123fs
PKNOX1:NM_004571:exon7:c.720_721insGTGC:p.Q240fs
0.0003 PKNOX1
chr6 43206319 rs542758187 CUL9 CUL9:NM_015089:exon26:c.5023_5029del:p.E1675fs 0.0032 CUL9
chr19 43495593 rs575267481 PHLDB3 PHLDB3:NM_198850:exon7:c.853delG:p.V285fs 0.0008 PHLDB3
chr20 43514046 rs766319498 L3MBTL1 L3MBTL1:NM_032107:exon3:c.280dupG:p.P93fs 0.0003 L3MBTL1
chr22 43782262 rs769692773 EFCAB6 EFCAB6:NM_022785:exon3:c.57delA:p.K19fs 6.591E-05 EFCAB6
chr19 43847015 rs79626467 ZNF283 ZNF283:NM_001297752:wholegene 0.4346 ZNF283
chr17 43941543 rs780550434 PPY PPY:NM_002722:exon2:c.111dupA:p.G38fs 0.001 PPY
chr19 44066719 rs749311212 ZNF223 ZNF223:NM_013361:exon5:c.891delC:p.F297fs 0.0002 ZNF223
chr19 44067099 rs562593501 ZNF223 ZNF223:NM_013361:exon5:c.1272dupA:p.R424fs 0.0019 ZNF223
chr17 44117504 rs747299818 HDAC5 HDAC5:NM_001015053:exon2:c.11_12insAGAGCCGGCATGAACTCTCC:p.P4_N5delinsPEPAX
HDAC5:NM_005474:exon2:c.11_12insAGAGCCGGCATGAACTCTCC:p.P4_N5delinsPEPAX
4.122E-05 HDAC5
chr6 44172317 rs57288791 CAPN11 CAPN11:NM_007058:exon5:c.425_426insGGCTGCC:p.L142fs 0.0616 CAPN11
chr19 44175928 rs533087898 ZNF226 ZNF226:NM_001032372:exon6:c.666_670del:p.K222fs
ZNF226:NM_001032373:exon6:c.666_670del:p.K222fs
0.0005 ZNF226
chr19 44274643 rs59660444 ZNF233 ZNF233:NM_001207005:exon5:c.1983delG:p.S661fs
ZNF233:NM_181756:exon5:c.1983delG:p.S661fs
0.1983 ZNF233
chr10 44292818 rs544424594 C10orf142 C10orf142:NM_001258000:exon1:c.59dupC:p.T20fs . C10orf142
chr1 44354988 . ERI3 ERI3:NM_024066:exon1:c.39delG:p.G13fs . ERI3
chr19 44520690 rs759815289 CEACAM20 CEACAM20:NM_001102597:exon5:c.813dupT:p.V272fs
CEACAM20:NM_001102598:exon5:c.813dupT:p.V272fs
CEACAM20:NM_001102599:exon5:c.813dupT:p.V272fs
CEACAM20:NM_001102600:exon5:c.813dupT:p.V272fs
0.0001 CEACAM20
chr21 44539673 rs781946879 KRTAP10-1 KRTAP10-1:NM_198691:exon1:c.477_478insCA:p.S160fs 0.6208 KRTAP10-1
chr21 44539675 rs782130783 KRTAP10-1 KRTAP10-1:NM_198691:exon1:c.475_476del:p.D159fs 0.6218 KRTAP10-1
chr21 44558614 rs781818625 KRTAP10-3 KRTAP10-3:NM_198696:exon1:c.90_102del:p.P30fs 0.002 KRTAP10-3
chr21 44637501 rs587619383 KRTAP10-10 KRTAP10-10:NM_181688:exon1:c.84_85insCC:p.E28fs 0.0009 KRTAP10-10
chr20 44750142 rs754387861 KCNK15 KCNK15:NM_022358:exon2:c.297_298insATAGAGTACG:p.A99fs 0.001 KCNK15
chr19 44793589 rs869161737 CBLC CBLC:NM_001130852:exon7:c.1116dupC:p.D372fs
CBLC:NM_012116:exon8:c.1254dupC:p.D418fs
0.0411 CBLC
chr22 44809070 rs372854709 ARHGAP8 ARHGAP8:NM_001017526:exon5:c.364_376del:p.L122fs 0.0024 ARHGAP8
chr1 44829678 rs764865626 PTCH2 PTCH2:NM_001166292:exon8:c.1018dupG:p.D340fs
PTCH2:NM_003738:exon8:c.1018dupG:p.D340fs
8.242E-06 PTCH2
chr18 44876705 rs3085861 SETBP1 SETBP1:NM_001130110:exon4:c.681_682insTCTT:p.L227fs 0.5146 SETBP1
chr14 44900854 rs566011631 C14orf28 C14orf28:NM_001017923:exon2:c.420dupA:p.T140fs 0.0003 C14orf28
chr7 45084184 . NACAD NACAD:NM_001146334:exon2:c.1920_1996del:p.S640fs 0.0063 NACAD
chr7 45109238 rs36007488 TBRG4 TBRG4:NM_001261834:exon2:c.33delC:p.I11fs 0.008 TBRG4
chr15 45111496 rs567500345 DUOX2 DUOX2:NM_014080:exon6:c.602dupG:p.G201fs 0.0011 DUOX2
chr14 45176752 rs746983128 FANCM FANCM:NM_020937:exon14:c.3998delA:p.Q1333fs 0.0002 FANCM
chr14 45246815 rs546807245 MIS18BP1 MIS18BP1:NM_018353:exon2:c.471dupA:p.L158fs 0.0227 MIS18BP1
chr15 45430831 rs141818043 C15orf48 C15orf48:NM_032413:exon1:c.35_36del:p.E12fs
C15orf48:NM_197955:exon2:c.35_36del:p.E12fs
0.0036 C15orf48
chr21 45504512 rs78227997 COL18A1 COL18A1:NM_030582:exon33:c.3364_3364del:p.G1122fs
COL18A1:NM_130444:exon33:c.4069_4069del:p.G1357fs
COL18A1:NM_130445:exon34:c.2824_2824del:p.G942fs
0.9693 COL18A1
chr1 45620392 rs758158482 CCDC17 CCDC17:NM_001114938:exon13:c.1752delC:p.P584fs
CCDC17:NM_001190182:exon13:c.1725delC:p.P575fs
6.17E-05 CCDC17
chr1 45621407 rs756236077 CCDC17 CCDC17:NM_001114938:exon10:c.1252_1262del:p.R418fs
CCDC17:NM_001190182:exon10:c.1225_1235del:p.R409fs
1.975E-05 CCDC17
chr1 45621418 rs778057210 CCDC17 CCDC17:NM_001114938:exon10:c.1250_1251insCC:p.L417fs
CCDC17:NM_001190182:exon10:c.1223_1224insCC:p.L408fs
1.897E-05 CCDC17
chr19 45677349 . GIPR GIPR:NM_000164:exon9:c.820_844del:p.W274fs . GIPR
chr1 45719225 rs144663569 IPP IPP:NM_001145349:exon6:c.1163_1164del:p.C388fs
IPP:NM_005897:exon6:c.1163_1164del:p.C388fs
0.0059 IPP
chr20 45857313 rs201025211 ACOT8 ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1fs 0.0253 ACOT8
chr20 45891619 rs564815597 CTSA CTSA:NM_000308:exon2:c.105delG:p.L35fs
CTSA:NM_001127695:exon2:c.51delG:p.L17fs
CTSA:NM_001167594:exon2:c.105delG:p.L35fs
0.0214 CTSA
chr20 45891621 rs562182818 CTSA CTSA:NM_000308:exon2:c.107_108del:p.L36fs
CTSA:NM_001127695:exon2:c.53_54del:p.L18fs
CTSA:NM_001167594:exon2:c.107_108del:p.L36fs
0.0215 CTSA
chr22 46054008 rs559208308 PRR34 PRR34:NM_018280:exon1:c.85_86insC:p.N29fs 0.0058 PRR34
chr22 46275410 rs371709747 TTC38 TTC38:NM_017931:exon5:c.528delC:p.I176fs 0.0029 TTC38
chr3 46373453 rs562091107 CCR5 CCR5:NM_000579:exon3:c.551_582del:p.Y184fs
CCR5:NM_001100168:exon3:c.551_582del:p.Y184fs
0.0726 CCR5
chr1 46402197 rs771132315 FAAH FAAH:NM_001441:exon2:c.302_309del:p.V101fs 0.0023 FAAH
chr2 46480744 rs70940616 TMEM247 TMEM247:NM_001145051:exon2:c.457_458insGG:p.Q153fs 0.011 TMEM247
chr2 46480749 rs765666900 TMEM247 TMEM247:NM_001145051:exon2:c.462delG:p.E154fs 0.0152 TMEM247
chr6 46652476 rs575295006 CYP39A1 CYP39A1:NM_001278738:exon1:c.106_107del:p.I36fs
CYP39A1:NM_016593:exon1:c.106_107del:p.I36fs
5.786E-05 CYP39A1
chr6 46692677 rs768772027 TDRD6 TDRD6:NM_001010870:exon1:c.4550dupA:p.E1517fs
TDRD6:NM_001168359:exon1:c.4550dupA:p.E1517fs
0.0018 TDRD6
chr1 46815075 rs3215983 CYP4B1 CYP4B1:NM_000779:exon8:c.881_882del:p.D294fs
CYP4B1:NM_001099772:exon8:c.884_885del:p.D295fs
0.1475 CYP4B1
chr3 46830480 rs767434827 PRSS42 PRSS42:NM_182702:exon5:c.806delG:p.G269fs 0.0007 PRSS42
chr18 46963135 rs373334809 TCEB3CL,TCEB3CL2 TCEB3CL:NM_001100817:exon1:c.1273_1274insGC:p.Q425fs
TCEB3CL2:NM_001242907:exon1:c.1273_1274insGC:p.Q425fs
0.1342 TCEB3CL,TCEB3CL2
chr3 47005320 rs574930889 NBEAL2 NBEAL2:NM_015175:exon40:c.6559_6560insGGTGCGGCCCAGGGGCT:p.R2187fs 0.0018 NBEAL2
chr1 47144552 rs201802480 CYP4A22 CYP4A22:NM_001010969:exon8:c.900delG:p.M300fs 0.0069 CYP4A22
chr19 47155201 rs774710646 SAE1 SAE1:NM_001145713:exon5:c.615_616insATGGTCAAAAAGGTATGTGT:p.T205fs
SAE1:NM_001145714:exon5:c.615_616insATGGTCAAAAAGGTATGTGT:p.T205fs
SAE1:NM_005500:exon5:c.615_616insATGGTCAAAAAGGTATGTGT:p.T205fs
3.295E-05 SAE1
chr17 47361521 rs55920564 EFCAB13 EFCAB13:NM_152347:exon10:c.805_805del:p.S269fs 0.4898 EFCAB13
chr17 47379200 rs368918546 EFCAB13 EFCAB13:NM_001195192:exon12:c.1242dupA:p.L414fs
EFCAB13:NM_152347:exon14:c.1530dupA:p.L510fs
0.0015 EFCAB13
chr10 47502281 . AGAP9 AGAP9:NM_001190810:exon8:c.1848delC:p.N616fs . AGAP9
chr3 47578658 . CSPG5 CSPG5:NM_001206943:exon1:c.36delG:p.G12fs
CSPG5:NM_001206944:exon1:c.36delG:p.G12fs
CSPG5:NM_006574:exon1:c.36delG:p.G12fs
. CSPG5
chr20 47651083 rs774928813 NCOA3 NCOA3:NM_001174087:exon20:c.3750_3751del:p.Q1250fs
NCOA3:NM_001174088:exon20:c.3726_3727del:p.Q1242fs
NCOA3:NM_006534:exon20:c.3741_3742del:p.Q1247fs
NCOA3:NM_181659:exon20:c.3753_3754del:p.Q1251fs
0.002 NCOA3
chr20 47651121 rs747117653 NCOA3 NCOA3:NM_001174087:exon20:c.3788_3789insGC:p.Q1263fs
NCOA3:NM_001174088:exon20:c.3764_3765insGC:p.Q1255fs
NCOA3:NM_006534:exon20:c.3779_3780insGC:p.Q1260fs
NCOA3:NM_181659:exon20:c.3791_3792insGC:p.Q1264fs
0.0027 NCOA3
chr20 47651122 rs770879424 NCOA3 NCOA3:NM_001174087:exon20:c.3789_3790insGCAG:p.Q1263fs
NCOA3:NM_001174088:exon20:c.3765_3766insGCAG:p.Q1255fs
NCOA3:NM_006534:exon20:c.3780_3781insGCAG:p.Q1260fs
NCOA3:NM_181659:exon20:c.3792_3793insGCAG:p.Q1264fs
0.0007 NCOA3
chr19 47976819 rs778707595 BSPH1 BSPH1:NM_001128326:exon5:c.292delC:p.R98fs 0.0004 BSPH1
chr19 48077776 rs11564598 PLA2G4C PLA2G4C:NM_001159322:exon11:c.923delC:p.P308fs
PLA2G4C:NM_001159323:exon11:c.893delC:p.P298fs
PLA2G4C:NM_003706:exon11:c.893delC:p.P298fs
0.0152 PLA2G4C
chr16 48086803 rs779447094 ABCC12 ABCC12:NM_033226:exon26:c.3639_3652del:p.Y1213fs 0.0003 ABCC12
chr7 48107398 rs528673920 UPP1 UPP1:NM_001287429:exon5:c.273delG:p.T91fs
UPP1:NM_001287430:exon5:c.273delG:p.T91fs
UPP1:NM_001287428:exon6:c.273delG:p.T91fs
UPP1:NM_003364:exon8:c.684delG:p.T228fs
UPP1:NM_001287426:exon9:c.684delG:p.T228fs
0.0004 UPP1
chr12 48203092 rs79650217 OR10AD1 OR10AD1:NM_001004134:exon1:c.200dupT:p.L67fs 0.2097 OR10AD1
chr19 48211796 rs749851325 CARD8 CARD8:NM_001184900:exon11:c.1527_1528del:p.K509fs
CARD8:NM_001184901:exon11:c.1377_1378del:p.K459fs
CARD8:NM_014959:exon12:c.1377_1378del:p.K459fs
8.237E-06 CARD8
chr3 48224638 rs56122065 CAMP CAMP:NM_004345:exon3:c.354_360del:p.N118fs 0.0008 CAMP
chr19 48231760 rs146319637 CARD8 CARD8:NM_001184900:exon5:c.441_442insAA:p.V148fs
CARD8:NM_001184901:exon5:c.291_292insAA:p.V98fs
CARD8:NM_001184903:exon6:c.441_442insAA:p.V148fs
CARD8:NM_014959:exon6:c.291_292insAA:p.V98fs
CARD8:NM_001184902:exon8:c.441_442insAA:p.V148fs
0.0525 CARD8
chr10 48251628 rs752282221 FRMPD2 FRMPD2:NM_001018071:exon2:c.89delA:p.E30fs 8.24E-06 FRMPD2
chr19 48498802 rs757900513 LMTK3 LMTK3:NM_001080434:exon12:c.2354delC:p.P785fs 0 LMTK3
chr19 48499558 rs780912067 LMTK3 LMTK3:NM_001080434:exon12:c.1598delC:p.P533fs 0.0014 LMTK3
chr17 48610727 rs761197780 HOXB7 HOXB7:NM_004502:exon1:c.191dupG:p.G64fs 0.0079 HOXB7
chr17 48724360 rs199607933 PRAC2 PRAC2:NM_001282276:exon2:c.101dupG:p.C34fs 0.0052 PRAC2
chr17 48728521 . HOXB13 HOXB13:NM_006361:exon1:c.72dupG:p.R25fs . HOXB13
chr17 48791558 rs533017141 TTLL6 TTLL6:NM_173623:exon2:c.122dupA:p.N41fs
TTLL6:NM_001130918:exon9:c.1043dupA:p.N348fs
0.0016 TTLL6
chr17 48804925 rs533233446 TTLL6 TTLL6:NM_001130918:exon2:c.154_170del:p.C52fs 0.0288 TTLL6
chr19 48874710 rs755872668 PPP1R15A PPP1R15A:NM_014330:exon2:c.1477_1495del:p.E493fs 3.299E-05 PPP1R15A
chr19 48939592 rs397960489 DHDH DHDH:NM_014475:exon4:c.511dupG:p.A170fs 0.2133 DHDH
chr19 48944492 rs796188970 DHDH DHDH:NM_014475:exon6:c.880_881del:p.E294fs 0.0762 DHDH
chr15 48962947 rs750654876 SHC4 SHC4:NM_203349:exon1:c.69delG:p.G23fs 8.588E-06 SHC4
chr19 49010484 rs746301110 RUVBL2 RUVBL2:NM_006666:exon9:c.664_664del:p.T222fs 0.0095 RUVBL2
chr4 49032653 rs147750792 CWH43 CWH43:NM_001286791:exon12:c.1515delA:p.T505fs
CWH43:NM_025087:exon12:c.1596delA:p.T532fs
0.0142 CWH43
chr3 49312475 rs776758552 USP4 USP4:NM_001251877:exon7:c.834delT:p.F278fs 0.3351 USP4
chr3 49358241 rs56041243 GPX1 UNKNOWN 0.0419 GPX1
chr22 49626844 rs563781981 C22orf34 C22orf34:NM_001289922:exon2:c.50_51del:p.S17fs 0.0014 C22orf34
chr13 49661072 rs760934732 EBPL EBPL:NM_032565:exon4:c.516dupT:p.N173_G174delinsX 0.0009 EBPL
chr3 49687058 rs561203180 MST1 MST1:NM_020998:exon6:c.616_617del:p.V206fs 0.001 MST1
chr3 49811419 rs752684386 UBA7 UBA7:NM_003335:exon9:c.976delC:p.L326fs 0.0002 UBA7
chr17 49844057 rs72318682 TAC4 TAC4:NM_001077503:exon2:c.196_199del:p.G66fs
TAC4:NM_001077504:exon2:c.196_199del:p.G66fs
TAC4:NM_001077505:exon2:c.196_199del:p.G66fs
TAC4:NM_001077506:exon2:c.196_199del:p.G66fs
TAC4:NM_170685:exon2:c.214_217del:p.G72fs
0.0144 TAC4
chr20 49850763 rs765368828 SLC9A8 SLC9A8:NM_001260491:exon7:c.537dupT:p.G179fs 0.0474 SLC9A8
chr22 49922288 rs71805922 CRELD2 CRELD2:NM_001135101:exon6:c.593_621del:p.V198fs 0.046 CRELD2
chr22 49922289 rs758608747 CRELD2 CRELD2:NM_001135101:exon6:c.593_621del:p.V198fs 0.0813 CRELD2
chr6 49968852 rs758917875 DEFB113 DEFB113:NM_001037729:exon2:c.73dupA:p.T25fs 0.0002 DEFB113
chr10 49988768 rs555930275 AGAP6 AGAP6:NM_001077665:exon1:c.54dupC:p.D18fs 0.0002 AGAP6
chr10 49988922 rs575835505 AGAP6 AGAP6:NM_001077665:exon1:c.207delC:p.D69fs 0.0576 AGAP6
chr10 50008915 rs141217862 AGAP6 AGAP6:NM_001077665:exon8:c.790_791del:p.K264fs 0.2017 AGAP6
chr10 50009463 rs574318431 AGAP6 AGAP6:NM_001077665:exon8:c.1338_1351del:p.L446fs 0.0016 AGAP6
chr3 50118455 rs748494679 RBM5 RBM5:NM_005778:exon25:c.2447_2448del:p.*816fs 0.3715 RBM5
chr3 50118455 rs764146271 RBM5 RBM5:NM_005778:exon25:c.2447_2623del:p.*816fs 0.0433 RBM5
chr22 50248393 rs561780178 HDAC10 HDAC10:NM_001159286:exon10:c.925_926del:p.L309fs
HDAC10:NM_032019:exon11:c.985_986del:p.L329fs
0.0008 HDAC10
chr22 50261408 rs532163968 MAPK12 MAPK12:NM_001303252:exon1:c.101dupG:p.G34fs
MAPK12:NM_002969:exon1:c.101dupG:p.G34fs
0.0022 MAPK12
chr16 50334767 rs145896392 BRD7 BRD7:NM_001173984:exon7:c.830_831del:p.E277fs
BRD7:NM_013263:exon7:c.830_831del:p.E277fs
0.02 BRD7
chr12 50352078 rs773026868 FAM186A FAM186A:NM_001145475:exon4:c.4753_4754insTC:p.Q1585fs 0.1042 FAM186A
chr12 50352080 rs762780805 FAM186A FAM186A:NM_001145475:exon4:c.4751_4752insCCAGGCCCTGGGGATCCCTCTCACCCCTCAGCAG:p.A1584fs 0.2873 FAM186A
chr14 50464077 rs746424357 MAP4K5 MAP4K5:NM_006575:exon12:c.793dupA:p.R265fs
MAP4K5:NM_198794:exon12:c.793dupA:p.R265fs
0.0001 MAP4K5
chr19 50481874 rs200206091 EMC10 EMC10:NM_175063:exon7:c.693dupG:p.L231fs 0.0383 EMC10
chr19 50513408 rs772400385 ASPDH ASPDH:NM_001114598:exon2:c.61delC:p.L21fs 0.0002 ASPDH
chr15 50529817 rs112155034 USP50 USP50:NM_203494:exon6:c.915dupA:p.Y306fs 0.0055 USP50
chr19 50725114 rs562569155 CLEC11A CLEC11A:NM_002975:exon4:c.620dupG:p.R207fs 0.0059 CLEC11A
chr18 50805242 rs553835874 MRO MRO:NM_001127174:exon4:c.340_341del:p.L114fs
MRO:NM_001127175:exon4:c.382_383del:p.L128fs
MRO:NM_001127176:exon4:c.382_383del:p.L128fs
MRO:NM_031939:exon5:c.340_341del:p.L114fs
0.0093 MRO
chr13 50956450 rs200320729 RNASEH2B RNASEH2B:NM_024570:exon11:c.916dupA:p.N305fs 0.0616 RNASEH2B
chr15 50958794 rs866221284 AP4E1 AP4E1:NM_001252127:exon14:c.1626_1627insGTAA:p.V542fs
AP4E1:NM_007347:exon14:c.1851_1852insGTAA:p.V617fs
0.0001 AP4E1
chr19 51014782 rs534291554 KLK10 KLK10:NM_001077500:exon6:c.827_951del:p.N276fs
KLK10:NM_002776:exon6:c.827_1050del:p.N276fs
KLK10:NM_145888:exon6:c.827_912del:p.N276fs
0.0125 KLK10
chr19 51098628 . CTU1 CTU1:NM_145232:exon3:c.1020delC:p.P340fs . CTU1
chr12 51329814 rs76813052 CELA1 CELA1:NM_001971:exon7:c.628dupC:p.L210fs 0.2295 CELA1
chr19 51332638 rs397723022 VSIG10L VSIG10L:NM_001163922:exon10:c.2576dupC:p.A859fs 1 VSIG10L
chr12 51346624 rs753836828 CELA1 CELA1:NM_001971:exon1:c.12_15del:p.L4fs 0.3797 CELA1
chr12 51346631 rs370927847 CELA1 CELA1:NM_001971:exon1:c.7_8insCT:p.V3fs 0.3794 CELA1
chr12 51346632 rs148235680 CELA1 CELA1:NM_001971:exon1:c.6_7insC:p.V3fs 0.3797 CELA1
chr19 51354360 rs55874945 ETFB ETFB:NM_001014763:exon1:c.278dupC:p.P93fs 0.0337 ETFB
chrX 51496444 rs782744505 NUDT11 NUDT11:NM_018159:wholegene 0.463 NUDT11
chr19 51501537 rs66949844 SIGLEC12 SIGLEC12:NM_053003:exon1:c.196dupG:p.A66fs 0.6407 SIGLEC12
chr1 51878514 rs780299612 NRD1 NRD1:NM_001101662:exon1:c.101dupG:p.G34fs
NRD1:NM_002525:exon1:c.101dupG:p.G34fs
8.701E-06 NRD1
chr19 52300417 rs398035013 ZNF480 ZNF480:NM_001297624:exon2:c.5_6del:p.L2fs
ZNF480:NM_144684:exon2:c.5_6del:p.L2fs
0.6883 ZNF480
chr19 52383893 rs398101268 ZNF880 ZNF880:NM_001145434:exon4:c.313delA:p.K105fs 0.4718 ZNF880
chr19 52384817 rs755155273 ZNF880 ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGG:p.C413fs 0.1204 ZNF880
chr19 52384820 . ZNF880 ZNF880:NM_001145434:exon4:c.1240_1241insGATCATGAGGTCAGGAGATC:p.G414_K415delinsGSX . ZNF880
chr19 52384821 rs779596445 ZNF880 ZNF880:NM_001145434:exon4:c.1241_1242insAT:p.G414fs 0.0573 ZNF880
chr19 52384821 rs779596445 ZNF880 ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGT:p.G414_K415delinsGSX 0.0121 ZNF880
chr19 52384821 rs779596445 ZNF880 ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGAT:p.G414delinsGSX 0.0162 ZNF880
chr19 52384821 rs779596445 ZNF880 ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGAC:p.G414delinsGSX 0.0097 ZNF880
chr19 52384823 rs777032228 ZNF880 ZNF880:NM_001145434:exon4:c.1243_1244insTG:p.K415fs 0.0227 ZNF880
chr19 52384823 rs777032228 ZNF880 ZNF880:NM_001145434:exon4:c.1243_1244insTGAGGTCAGGAGATCG:p.K415fs 0.0066 ZNF880
chr19 52384824 rs752060609 ZNF880 ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.K415fs 0.0078 ZNF880
chr19 52384824 rs752060609 ZNF880 ZNF880:NM_001145434:exon4:c.1244_1245insGGTCAGG:p.K415fs 0.0116 ZNF880
chr19 52384824 rs752060609 ZNF880 ZNF880:NM_001145434:exon4:c.1244_1245insGGTCAGGAGATCG:p.K415fs 0.0089 ZNF880
chr19 52384826 rs754636078 ZNF880 ZNF880:NM_001145434:exon4:c.1246_1247insGAGATCGAGAC:p.A416fs 0.0083 ZNF880
chr19 52384829 rs773071098 ZNF880 ZNF880:NM_001145434:exon4:c.1249_1250insGAGG:p.F417_R418delinsX 0.0075 ZNF880
chr19 52384830 rs746933147 ZNF880 ZNF880:NM_001145434:exon4:c.1250_1251insCAGGAGA:p.F417fs 0.0075 ZNF880
chr19 52415715 rs769755162 ZNF528 ZNF528:NM_032423:exon7:c.863_866del:p.Q288fs 5.773E-05 ZNF528
chr3 52525282 rs745485897 NT5DC2 NT5DC2:NM_001134231:exon11:c.1132_1133insTTTG:p.D378_F379delinsVX
NT5DC2:NM_022908:exon11:c.1021_1022insTTTG:p.D341_F342delinsVX
0.0002 NT5DC2
chr13 52642567 rs374312718 HNRNPA1L2 HNRNPA1L2:NM_001011725:exon6:c.75delA:p.T25fs
HNRNPA1L2:NM_001011724:exon7:c.75delA:p.T25fs
0.0059 HNRNPA1L2
chr13 52643321 rs112829663 HNRNPA1L2 HNRNPA1L2:NM_001011725:exon6:c.829delA:p.K277fs
HNRNPA1L2:NM_001011724:exon7:c.829delA:p.K277fs
0.0243 HNRNPA1L2
chr12 52675284 rs775992378 KRT1 KRT1:NM_006121:exon9:c.1844delG:p.G615fs 0.0001 KRT1
chr12 52675287 . KRT1 KRT1:NM_006121:exon9:c.1789_1841del:p.G597fs 0.0001 KRT1
chr19 52801216 rs146695045 ZNF28 ZNF28:NM_006969:exon4:c.628_629del:p.M210fs 0.0058 ZNF28
chr12 52813904 rs532967908 KRT4 KRT4:NM_002272:exon1:c.155delT:p.L52fs 0.0004 KRT4
chr12 52834060 rs755319583 KRT79 KRT79:NM_175834:exon1:c.200dupG:p.G67fs 0.0001 KRT79
chr12 52949347 . KRT18 KRT18:NM_000224:exon1:c.174_175insA:p.M58fs
KRT18:NM_199187:exon2:c.174_175insA:p.M58fs
. KRT18
chr1 53214724 rs758425921 C1orf123 C1orf123:NM_001304760:exon6:c.274_277del:p.D92fs
C1orf123:NM_001304759:exon7:c.358_361del:p.D120fs
C1orf123:NM_017887:exon8:c.415_418del:p.D139fs
0.0002 C1orf123
chr1 53327839 rs796779003 LRP8 LRP8:NM_001018054:exon1:c.73_74del:p.Q25fs
LRP8:NM_004631:exon1:c.73_74del:p.Q25fs
LRP8:NM_017522:exon1:c.73_74del:p.Q25fs
LRP8:NM_033300:exon1:c.73_74del:p.Q25fs
0.0032 LRP8
chr1 53327842 rs761955852 LRP8 LRP8:NM_001018054:exon1:c.71delT:p.L24fs
LRP8:NM_004631:exon1:c.71delT:p.L24fs
LRP8:NM_017522:exon1:c.71delT:p.L24fs
LRP8:NM_033300:exon1:c.71delT:p.L24fs
0.0032 LRP8
chr4 53453081 rs143671659 FIP1L1 FIP1L1:NM_001134938:exon13:c.1225_1226del:p.R409fs
FIP1L1:NM_001134937:exon16:c.1429_1430del:p.R477fs
FIP1L1:NM_030917:exon16:c.1447_1448del:p.R483fs
0.1141 FIP1L1
chr1 53459722 rs768785806 DMRTB1 DMRTB1:NM_033067:exon1:c.270dupC:p.V90fs 0.0004 DMRTB1
chr19 53992920 rs575512500 CACNG6 CACNG6:NM_031897:exon1:c.44dupG:p.R15fs
CACNG6:NM_145814:exon1:c.44dupG:p.R15fs
CACNG6:NM_145815:exon1:c.44dupG:p.R15fs
0.0014 CACNG6
chr1 54139645 rs76608277 CDCP2 CDCP2:NM_201546:exon4:c.1224dupC:p.M409fs 0.2702 CDCP2
chr1 54139645 rs76608277 CDCP2 CDCP2:NM_201546:exon4:c.1224_1225insCC:p.M409fs 0.2278 CDCP2
chr1 54139645 rs76608277 CDCP2 CDCP2:NM_201546:exon4:c.1224_1225insCCCC:p.M409fs 0.0016 CDCP2
chr1 54139646 rs36013100 CDCP2 CDCP2:NM_201546:exon4:c.1223_1224insG:p.P408fs 0.6984 CDCP2
chr18 54294321 rs752529922 POLI POLI:NM_007195:exon10:c.2077_2080del:p.R693fs 0.0001 POLI
chr19 54574889 rs764504246 LILRA2 LILRA2:NM_001290270:exon3:c.475_476insGT:p.H159fs
LILRA2:NM_001130917:exon4:c.511_512insGT:p.H171fs
LILRA2:NM_001290271:exon5:c.511_512insGT:p.H171fs
LILRA2:NM_006866:exon5:c.511_512insGT:p.H171fs
0.0003 LILRA2
chr19 54574892 rs752012965 LILRA2 LILRA2:NM_001290270:exon3:c.478_479del:p.A160fs
LILRA2:NM_001130917:exon4:c.514_515del:p.A172fs
LILRA2:NM_001290271:exon5:c.514_515del:p.A172fs
LILRA2:NM_006866:exon5:c.514_515del:p.A172fs
0.0003 LILRA2
chr1 54610465 rs373739034 FAM151A FAM151A:NM_176782:exon7:c.1003_1031del:p.P335fs 0.0309 FAM151A
chr3 54918483 rs573640720 LRTM1 LRTM1:NM_001304389:exon3:c.785_786del:p.E262fs
LRTM1:NM_020678:exon3:c.1013_1014del:p.E338fs
0.0039 LRTM1
chr14 54941591 rs761455247 WDHD1 WDHD1:NM_001008396:exon25:c.2920delG:p.E974fs
WDHD1:NM_007086:exon26:c.3289delG:p.E1097fs
0.0002 WDHD1
chr12 55129803 rs58036029 OR9K2 OR9K2:NM_001005243:exon1:c.35delT:p.I12fs 0.301 OR9K2
chr12 55295155 rs545296708 OR6C6 OR6C6:NM_001005493:exon1:c.77dupT:p.F26fs 0.0004 OR6C6
chr12 55320622 rs80197193 OR6C1 OR6C1:NM_001005182:exon1:c.24dupA:p.T8fs 0.4015 OR6C1
chr11 55343263 rs749534121 OR4A16 OR4A16:NM_001005274:exon1:c.64dupA:p.V21fs 0.0003 OR4A16
chr11 55343756 rs771483821 OR4A16 OR4A16:NM_001005274:exon1:c.556_557del:p.L186fs 0.0011 OR4A16
chr11 55343758 rs746257788 OR4A16 OR4A16:NM_001005274:exon1:c.558_559insCA:p.L186fs 0.0011 OR4A16
chr15 55359582 rs775725329 CCPG1 CCPG1:NM_001204450:exon8:c.2190_2191del:p.Y730fs
CCPG1:NM_004748:exon8:c.2190_2191del:p.Y730fs
CCPG1:NM_020739:exon8:c.2190_2191del:p.Y730fs
CCPG1:NM_001204451:exon9:c.1041_1042del:p.Y347fs
0.0008 CCPG1
chr12 55365701 rs758862006 OR6C75 OR6C75:NM_001005497:exon1:c.592dupT:p.A197fs 4.947E-05 OR6C75
chr12 55400589 rs561426739 OR6C65 OR6C65:NM_001005518:exon1:c.61_62insTACAAGTTGTGATATTCTTC:p.L21fs 0.0012 OR6C65
chr12 55400894 rs765726738 OR6C65 OR6C65:NM_001005518:exon1:c.366delG:p.V122fs 4.122E-05 OR6C65
chr12 55400897 rs750976307 OR6C65 OR6C65:NM_001005518:exon1:c.369delT:p.A123fs 4.124E-05 OR6C65
chr12 55427118 rs58396798 OR6C76 OR6C76:NM_001005183:exon1:c.866dupT:p.L289fs 0.0094 OR6C76
chr12 55427174 rs769942775 OR6C76 OR6C76:NM_001005183:exon1:c.922dupA:p.H307fs 0.134 OR6C76
chr12 55427175 rs57387180 OR6C76 OR6C76:NM_001005183:exon1:c.922delA:p.K308fs 0.3518 OR6C76
chr15 55467044 rs778891601 DYX1C1 DYX1C1:NM_001033559:exon5:c.523delA:p.I175fs
DYX1C1:NM_001033560:exon5:c.523delA:p.I175fs
DYX1C1:NM_130810:exon5:c.523delA:p.I175fs
0.0009 DYX1C1
chr6 55514067 rs776463771 HMGCLL1 HMGCLL1:NM_001287741:exon4:c.426_427del:p.H142fs
HMGCLL1:NM_001042406:exon5:c.522_523del:p.H174fs
HMGCLL1:NM_001287746:exon6:c.225_226del:p.H75fs
HMGCLL1:NM_019036:exon6:c.612_613del:p.H204fs
6.644E-05 HMGCLL1
chr11 55603944 rs555433759 OR4C11 OR4C11:NM_001004700:exon1:c.430delG:p.V144fs 0.0001 OR4C11
chr19 55613816 . ZNF865 ZNF865:NM_001195605:exon1:c.198_201del:p.P66fs . ZNF865
chr19 55913200 rs762288148 NLRP13 NLRP13:NM_176810:exon5:c.617delA:p.N206fs 5.771E-05 NLRP13
chr11 55913949 rs749454129 OR5W2 OR5W2:NM_001001960:exon1:c.634delT:p.S212fs 8.275E-05 OR5W2
chr11 55914168 rs777160441 OR5W2 OR5W2:NM_001001960:exon1:c.415delA:p.R139fs 0.0003 OR5W2
chr7 56064263 rs556111984 SUMF2 SUMF2:NM_001042469:exon1:c.9_10insCC:p.A3fs
SUMF2:NM_001042470:exon1:c.9_10insCC:p.A3fs
SUMF2:NM_001130069:exon1:c.9_10insCC:p.A3fs
SUMF2:NM_015411:exon1:c.9_10insCC:p.A3fs
0.0055 SUMF2
chr11 56093802 rs138372442 OR8I2 OR8I2:NM_001003750:exon1:c.495delT:p.S165fs 0.0653 OR8I2
chr11 56093831 rs144690814 OR8I2 OR8I2:NM_001003750:exon1:c.524delA:p.H175fs 0.0652 OR8I2
chr19 56190479 rs757005180 ZSCAN5B ZSCAN5B:NM_001080456:exon4:c.835_836del:p.E279fs 8.238E-06 ZSCAN5B
chr8 56316028 rs764566437 SDR16C5 SDR16C5:NM_138969:exon2:c.314_320del:p.V105fs 5.782E-05 SDR16C5
chr4 56354103 rs770970036 AASDH AASDH:NM_001286668:exon7:c.1019delT:p.L340fs
AASDH:NM_001286669:exon7:c.860delT:p.L287fs
AASDH:NM_001286671:exon8:c.1319delT:p.L440fs
AASDH:NM_001286672:exon8:c.1319delT:p.L440fs
AASDH:NM_181806:exon8:c.1319delT:p.L440fs
0.0256 AASDH
chr11 56361197 rs56266017 OR8J1 OR8J1:NM_001005205:exon1:c.952dupT:p.X317delinsX 0.0752 OR8J1
chr20 56366257 rs769285884 FAM210B FAM210B:NM_080821:exon3:c.550dupT:p.G183fs 0.0003 FAM210B
chr15 56443725 . MNS1 MNS1:NM_018365:exon6:c.815_816del:p.E272fs . MNS1
chr20 56524918 rs775952021 FAM209A FAM209A:NM_001012971:exon1:c.110_113del:p.Q37fs 0.0002 FAM209A
chr20 56524922 rs749426116 FAM209A FAM209A:NM_001012971:exon1:c.114_115insGTGT:p.Y38fs 0.0002 FAM209A
chr20 56533450 rs756419294 FAM209B FAM209B:NM_001013646:exon1:c.109_110insAATA:p.P37fs 0.0005 FAM209B
chr20 56533452 rs780605931 FAM209B FAM209B:NM_001013646:exon1:c.111_114del:p.P37fs 0.0006 FAM209B
chr11 56543062 rs762277965 OR5M11 OR5M11:NM_001005245:exon1:c.193_196del:p.N65fs 0.0002 OR5M11
chr3 56557250 rs60235683 CCDC66 CCDC66:NM_001141947:exon1:c.8_9insGGGGTAAGCA:p.L3_G4delinsLGX 0.6881 CCDC66
chr3 56563828 . CCDC66 CCDC66:NM_001012506:exon4:c.146dupA:p.E49fs
CCDC66:NM_001141947:exon4:c.248dupA:p.E83fs
. CCDC66
chr11 56577368 rs148438199 OR5M10 OR5M10:NM_001004741:exon1:c.347_354del:p.A116fs 0.067 OR5M10
chr11 56613071 rs72003051 OR5M1 OR5M1:NM_001004740:exon1:c.429_432del:p.C143fs 0.1839 OR5M1
chr3 56619394 rs748331545 CCDC66 CCDC66:NM_001012506:exon16:c.2400_2401del:p.T800fs
CCDC66:NM_001141947:exon16:c.2502_2503del:p.T834fs
0.0006 CCDC66
chr6 56620139 . DST DST:NM_001723:exon23:c.3895delG:p.A1299fs . DST
chr12 56686881 rs374710214 PTGES3 PTGES3:NM_001282604:wholegene . PTGES3
chr4 56809985 rs150309687 SPINK2 SPINK2:NM_001271722:exon2:c.404dupA:p.X135delinsX . SPINK2
chr19 57444939 rs560067293 ZNF749 ZNF749:NM_001023561:exon3:c.1791delC:p.Y597X 0.0007 ZNF749
chr19 57445372 rs59258956 ZNF749 ZNF749:NM_001023561:exon3:c.2225dupA:p.Q742fs 0.0145 ZNF749
chr15 57452161 rs781330174 CGNL1 CGNL1:NM_032866:exon6:c.1926_1927del:p.E642fs
CGNL1:NM_001252335:exon7:c.1926_1927del:p.E642fs
0.0006 CGNL1
chr11 57476479 rs762381433 RTN4RL2 RTN4RL2:NM_178570:exon3:c.831_832del:p.Q277fs 0.0018 RTN4RL2
chr12 57622820 rs546541926 SLC26A10 SLC26A10:NM_133489:exon6:c.825_840del:p.E275fs 0.0018 SLC26A10
chr19 57639971 rs34418076 ZNF211 ZNF211:NM_001265598:exon3:c.277delG:p.V93fs
ZNF211:NM_001265597:exon4:c.316delG:p.V106fs
ZNF211:NM_001265599:exon4:c.94delG:p.V32fs
0.2531 ZNF211
chr19 57808155 rs776186979 ZNF552 ZNF552:NM_024762:exon3:c.1108dupC:p.H370fs 1.647E-05 ZNF552
chr12 57810504 . AVIL AVIL:NM_006576:exon6:c.606delT:p.R202fs . AVIL
chr19 57841748 rs762902559 ZNF587B ZNF587B:NM_001204818:exon3:c.1074_1084del:p.E358fs 5.724E-05 ZNF587B
chr19 57841760 . ZNF587B ZNF587B:NM_001204818:exon3:c.1086_1122del:p.S362fs 8.94E-05 ZNF587B
chr19 57926277 rs750922476 ZNF418 ZNF418:NM_133460:exon4:c.1903_1904del:p.T635fs 0.009 ZNF418
chr19 57926279 rs756712461 ZNF418 ZNF418:NM_133460:exon4:c.1901_1902insCC:p.L634fs 0.0085 ZNF418
chr17 57979246 rs746343850 VEZF1 VEZF1:NM_007146:exon5:c.1044delG:p.Q348fs 0.0022 VEZF1
chr17 57979248 rs775689252 VEZF1 VEZF1:NM_007146:exon5:c.1041_1042del:p.Q347fs 0.0018 VEZF1
chr11 58031637 rs34846253 OR6Q1 OR6Q1:NM_001005186:exon1:c.685delC:p.L229fs 0.1521 OR6Q1
chr3 58104061 rs758401425 FLNB FLNB:NM_001164317:exon10:c.1586delG:p.W529fs
FLNB:NM_001164318:exon10:c.1586delG:p.W529fs
FLNB:NM_001164319:exon10:c.1586delG:p.W529fs
FLNB:NM_001457:exon10:c.1586delG:p.W529fs
8.26E-06 FLNB
chr17 58324822 . BZRAP1 BZRAP1:NM_024418:exon4:c.751delG:p.A251fs
BZRAP1:NM_001261835:exon5:c.931delG:p.A311fs
BZRAP1:NM_004758:exon5:c.931delG:p.A311fs
. BZRAP1
chr11 58358688 rs537082834 OR5B17 OR5B17:NM_001005489:exon1:c.382delC:p.L128fs 0.0003 OR5B17
chr10 58388810 rs544132101 TFAM TFAM:NM_001270782:exon4:c.432delA:p.T144fs
TFAM:NM_003201:exon4:c.432delA:p.T144fs
0.0597 TFAM
chr8 58491648 . CYP7A1 CYP7A1:NM_000780:exon6:c.1341_1342del:p.R447fs . CYP7A1
chr16 58543411 rs751489327 CNOT1 CNOT1:NM_206999:exon31:c.4629dupT:p.L1544fs 0.0769 CNOT1
chr16 58543412 rs869278450 CNOT1 CNOT1:NM_206999:exon31:c.4629delT:p.F1543fs 0.4075 CNOT1
chr16 58543412 rs781082353 CNOT1 CNOT1:NM_206999:exon31:c.4628_4629del:p.F1543fs 0.0117 CNOT1
chr11 58955890 . GLYATL1 GLYATL1:NM_001220496:exon7:c.772delA:p.K258fs
GLYATL1:NM_080661:exon7:c.865delA:p.K289fs
GLYATL1:NM_001220494:exon8:c.772delA:p.K258fs
. GLYATL1
chr11 59124489 rs199851144 FAM111B FAM111B:NM_001142704:exon2:c.302delT:p.V101fs
FAM111B:NM_001142703:exon3:c.302delT:p.V101fs
FAM111B:NM_198947:exon4:c.392delT:p.V131fs
0.0258 FAM111B
chr11 59124904 rs768272759 FAM111B FAM111B:NM_001142704:exon2:c.717delA:p.S239fs
FAM111B:NM_001142703:exon3:c.717delA:p.S239fs
FAM111B:NM_198947:exon4:c.807delA:p.S269fs
0.0704 FAM111B
chr11 59152449 rs533676902 FAM111A FAM111A:NM_022074:exon4:c.781_782insGCAGATACTT:p.G261fs
FAM111A:NM_198847:exon4:c.781_782insGCAGATACTT:p.G261fs
FAM111A:NM_001142519:exon5:c.781_782insGCAGATACTT:p.G261fs
FAM111A:NM_001142520:exon5:c.781_782insGCAGATACTT:p.G261fs
FAM111A:NM_001142521:exon5:c.781_782insGCAGATACTT:p.G261fs
0.0058 FAM111A
chr20 59191164 rs750329558 ZNF831 ZNF831:NM_178457:exon1:c.146dupC:p.A49fs 0.0017 ZNF831
chr18 59230436 rs149962068 GRP GRP:NM_001012512:exon3:c.394_397del:p.E132fs
GRP:NM_001012513:exon3:c.396_399del:p.V132fs
GRP:NM_002091:exon3:c.415_418del:p.E139fs
0.0299 GRP
chr11 59457657 rs77048571 OR4D6 OR4D6:NM_001004708:exon1:c.697delC:p.R233fs 0.0207 OR4D6
chr13 60008599 rs767855421 DIAPH3 DIAPH3:NM_001258370:exon3:c.169dupA:p.I57fs
DIAPH3:NM_030932:exon3:c.169dupA:p.I57fs
DIAPH3:NM_001258367:exon7:c.820dupA:p.I274fs
DIAPH3:NM_001258368:exon7:c.748dupA:p.I250fs
DIAPH3:NM_001258366:exon8:c.925dupA:p.I309fs
DIAPH3:NM_001042517:exon9:c.958dupA:p.I320fs
DIAPH3:NM_001258369:exon9:c.958dupA:p.I320fs
4.992E-05 DIAPH3
chr20 60012728 rs370682137 CDH26 CDH26:NM_021810:exon6:c.497dupA:p.X166delinsX
CDH26:NM_177980:exon18:c.2498dupA:p.X833delinsX
0.0157 CDH26
chr11 60093404 rs534720217 MS4A2 MS4A2:NM_001256916:exon4:c.248_249insAGGA:p.R83fs
MS4A2:NM_000139:exon5:c.383_384insAGGA:p.R128fs
0.0006 MS4A2
chr16 60358912 rs199853113 LOC729159 LOC729159:NM_001282301:exon1:c.791delC:p.P264fs . LOC729159
chr11 60396637 rs746982578 MS4A14 MS4A14:NM_001079692:exon1:c.59delA:p.E20fs
MS4A14:NM_001261827:exon1:c.59delA:p.E20fs
MS4A14:NM_001261828:exon1:c.59delA:p.E20fs
MS4A14:NM_032597:exon1:c.59delA:p.E20fs
6.634E-05 MS4A14
chr11 60397880 rs3217518 MS4A14 MS4A14:NM_001079692:exon2:c.167_168del:p.I56fs
MS4A14:NM_001261827:exon2:c.167_168del:p.I56fs
MS4A14:NM_001261828:exon2:c.167_168del:p.I56fs
MS4A14:NM_032597:exon2:c.167_168del:p.I56fs
0.6394 MS4A14
chr11 60873703 rs765516163 ZP1 ZP1:NM_207341:exon9:c.1500delG:p.S500fs 1.648E-05 ZP1
chr2 61186687 rs747355090 AHSA2 AHSA2:NM_152392:exon6:c.315_316insCTAT:p.F105fs 0.0027 AHSA2
chr11 61291480 . VWCE VWCE:NM_152718:exon2:c.187_205del:p.G63fs . VWCE
chr11 61294983 . VWCE VWCE:NM_152718:exon1:c.55delG:p.A19fs . VWCE
chr10 61410429 rs566163349 TMEM26 TMEM26:NM_178505:exon6:c.999dupT:p.E334_S335delinsX 0.0004 TMEM26
chr17 61412434 rs754945497 C17orf82 C17orf82:NM_203425:exon1:c.460dupC:p.F153fs 0.0007 C17orf82
chr14 61768673 rs758866144 SNAPC1 SNAPC1:NM_003082:exon4:c.467_468del:p.E156fs 0.0004 SNAPC1
chr10 62198304 rs564181443 RTKN2 RTKN2:NM_145307:exon12:c.1433_1434insACCA:p.H478fs 0.003 RTKN2
chr20 62200724 rs777539979 MTG2 MTG2:NM_015666:exon7:c.868_869del:p.R290fs 8.424E-06 MTG2
chr20 62331127 rs747079192 LAMA5 LAMA5:NM_005560:exon29:c.3554_3555insTCTCGTCCCTCTGCCTGCAGCA:p.H1185fs 2.638E-05 LAMA5
chr20 62367189 . LAMA5 LAMA5:NM_005560:exon1:c.57delC:p.P19fs . LAMA5
chr11 62602419 . EML3 EML3:NM_001300793:exon22:c.2636_2640del:p.C879fs
EML3:NM_001300794:exon22:c.2633_2637del:p.C878fs
. EML3
chr20 63239199 rs772478876 BIRC7 BIRC7:NM_022161:exon5:c.615_618del:p.R205fs
BIRC7:NM_139317:exon5:c.615_618del:p.R205fs
0.0001 BIRC7
chr11 63382198 rs775903571 SLC22A9 SLC22A9:NM_080866:exon6:c.995dupA:p.Q332fs 0.0927 SLC22A9
chr11 63382199 rs78765214 SLC22A9 SLC22A9:NM_080866:exon6:c.995delA:p.Q332fs 0.0552 SLC22A9
chr1 63453945 rs569350949 ITGB3BP ITGB3BP:NM_014288:exon7:c.454_457del:p.F152fs
ITGB3BP:NM_001206739:exon8:c.571_574del:p.F191fs
0.0005 ITGB3BP
chr20 63564779 rs751419406 HELZ2 HELZ2:NM_033405:exon3:c.2335dupC:p.Q779fs
HELZ2:NM_001037335:exon9:c.4042dupC:p.Q1348fs
2.585E-05 HELZ2
chr20 63861822 rs539544290 ABHD16B ABHD16B:NM_080622:exon1:c.282_283insGGCCAGCTCGCTAGCTACGCGCT:p.P94fs 0.0105 ABHD16B
chr17 64001200 rs773029580 PRR29 PRR29:NM_001164257:exon4:c.360delG:p.P120fs
PRR29:NM_001191029:exon4:c.360delG:p.P120fs
PRR29:NM_001191030:exon4:c.339delG:p.P113fs
0.0026 PRR29
chr5 64728113 rs750306056 SREK1IP1 SREK1IP1:NM_173829:exon4:c.271dupA:p.R91fs 0.0256 SREK1IP1
chr5 64728113 . SREK1IP1 SREK1IP1:NM_173829:exon4:c.271_272insAA:p.R91fs . SREK1IP1
chr11 64747274 rs398124210 PYGM PYGM:NM_001164716:exon16:c.1998delA:p.K666fs
PYGM:NM_005609:exon18:c.2262delA:p.K754fs
0.0001 PYGM
chr7 64978605 rs535488637 ZNF117 ZNF117:NM_015852:exon4:c.963_966del:p.T321fs 0.0007 ZNF117
chr11 65128707 . SYVN1 SYVN1:NM_032431:exon15:c.1600delC:p.R534fs
SYVN1:NM_172230:exon15:c.1603delC:p.R535fs
. SYVN1
chr15 65201908 rs745516539 CILP CILP:NM_003613:exon8:c.1150delG:p.A384fs 8.51E-05 CILP
chr9 65283163 . FOXD4L5 FOXD4L5:NM_001126334:exon1:c.1215delC:p.C405fs . FOXD4L5
chr9 65283490 rs562882568 FOXD4L5 FOXD4L5:NM_001126334:exon1:c.887_888del:p.F296fs 0.2313 FOXD4L5
chr15 65377746 . IGDCC3 IGDCC3:NM_004884:exon1:c.40_43del:p.A14fs . IGDCC3
chr15 65385981 rs771839118 IGDCC4 IGDCC4:NM_020962:exon18:c.3030delC:p.P1010fs 0.0003 IGDCC4
chr3 65387175 rs139764373 MAGI1 MAGI1:NM_004742:exon15:c.2467_2468del:p.E823fs
MAGI1:NM_015520:exon15:c.2467_2468del:p.E823fs
0.0245 MAGI1
chr12 66123843 rs532313455 LLPH LLPH:NM_032338:exon3:c.377_387del:p.G126fs 0.0008 LLPH
chr12 66138156 rs762169222 TMBIM4 TMBIM4:NM_001282609:exon7:c.485dupT:p.L162fs
TMBIM4:NM_001282610:exon7:c.427dupT:p.Y143fs
TMBIM4:NM_016056:exon7:c.520dupT:p.Y174fs
TMBIM4:NM_001282606:exon8:c.661dupT:p.Y221fs
0.0424 TMBIM4
chr12 66310494 rs199672632 HELB HELB:NM_033647:exon4:c.1566delG:p.E522fs 0.0178 HELB
chr3 66380395 rs572173862 LRIG1 LRIG1:NM_015541:exon19:c.3149_3150del:p.A1050fs 0.0011 LRIG1
chr8 66444705 rs567577128 ADHFE1 ADHFE1:NM_144650:exon5:c.310delT:p.F104fs 0.0025 ADHFE1
chr3 66500332 rs749651385 LRIG1 LRIG1:NM_015541:exon1:c.76delC:p.L26fs 0 LRIG1
chr9 66990504 . SPATA31A3 SPATA31A3:NM_001083124:exon3:c.249delT:p.A83fs . SPATA31A3
chr5 67166134 rs748310997 MAST4 MAST4:NM_001290227:exon26:c.6172delA:p.K2058fs
MAST4:NM_001297651:exon26:c.6373delA:p.K2125fs
MAST4:NM_001290226:exon27:c.6337delA:p.K2113fs
MAST4:NM_015183:exon28:c.6388delA:p.K2130fs
MAST4:NM_001164664:exon29:c.6955delA:p.K2319fs
0.0004 MAST4
chr16 67202228 rs771652066 ELMO3 ELMO3:NM_024712:exon13:c.1364delG:p.R455fs 0.0001 ELMO3
chr11 67584466 rs568270040 GSTP1 GSTP1:NM_000852:exon3:c.40_41insGCTGCGCGGCCCTGCGCATGCT:p.R14fs 0.0006 GSTP1
chr16 67663251 rs761646044 ENKD1 ENKD1:NM_032140:exon7:c.950_951insGCCA:p.H317fs 8.261E-06 ENKD1
chr16 67665060 rs762750441 ENKD1 ENKD1:NM_032140:exon3:c.388dupC:p.L130fs 0.0001 ENKD1
chr9 67867345 rs550666541 ANKRD20A1,ANKRD20A3 ANKRD20A3:NM_001012419:exon4:c.561_564del:p.K187fs
ANKRD20A1:NM_032250:exon4:c.561_564del:p.K187fs
0.029 ANKRD20A1,ANKRD20A3
chr17 67903834 rs753044214 BPTF BPTF:NM_182641:exon8:c.2590dupA:p.V863fs
BPTF:NM_004459:exon10:c.2968dupA:p.V989fs
0.0003 BPTF
chr17 67903835 rs768059042 BPTF BPTF:NM_182641:exon8:c.2590delA:p.K864fs
BPTF:NM_004459:exon10:c.2968delA:p.K990fs
0.0029 BPTF
chr1 68098710 rs372130459 WLS WLS:NM_001002292:exon12:c.1554delT:p.F518fs 0.0009 WLS
chr9 68303716 . FOXD4L3 FOXD4L3:NM_199135:exon1:c.766dupG:p.P255fs . FOXD4L3
chr8 68331069 rs200653092 C8orf34 C8orf34:NM_001195639:exon1:c.57_70del:p.F19fs
C8orf34:NM_052958:exon1:c.57_70del:p.F19fs
0.0139 C8orf34
chr10 68471790 rs556723627 DNA2 DNA2:NM_001080449:exon1:c.64_74del:p.P22fs 0.0019 DNA2
chr2 68578011 rs149897324 APLF APLF:NM_173545:exon10:c.1525delA:p.K509fs 0.0108 APLF
chr10 68749528 rs147413396 CCAR1 CCAR1:NM_001282959:exon9:c.916_917del:p.E306fs
CCAR1:NM_001282960:exon9:c.916_917del:p.E306fs
CCAR1:NM_018237:exon10:c.961_962del:p.E321fs
0.0165 CCAR1
chr17 69149050 rs3842375 ABCA10 ABCA10:NM_080282:exon39:c.4515_4516del:p.S1505fs 0.0745 ABCA10
chr17 69194396 rs113082690 ABCA10 ABCA10:NM_080282:exon13:c.1331_1334del:p.S444fs 0.0743 ABCA10
chr17 69306770 rs751460805 ABCA5 ABCA5:NM_018672:exon5:c.742dupA:p.I248fs
ABCA5:NM_172232:exon6:c.742dupA:p.I248fs
0.001 ABCA5
chr12 69694440 rs566733141 BEST3 BEST3:NM_001282614:exon3:c.177delA:p.K59fs
BEST3:NM_032735:exon3:c.177delA:p.K59fs
0.0267 BEST3
chr10 70145609 rs753276416 TYSND1 TYSND1:NM_001040273:exon1:c.968_978del:p.L323fs
TYSND1:NM_173555:exon1:c.968_978del:p.L323fs
0.0003 TYSND1
chr10 70146167 rs781654800 TYSND1 TYSND1:NM_001040273:exon1:c.404_420del:p.L135fs
TYSND1:NM_173555:exon1:c.404_420del:p.L135fs
0.0001 TYSND1
chr4 70198141 rs749399644 ODAM ODAM:NM_017855:exon4:c.359delA:p.Q120fs 0.0003 ODAM
chr12 70353913 rs751341232 CNOT2 CNOT2:NM_001199303:exon16:c.1622dupA:p.X541delinsX
CNOT2:NM_014515:exon16:c.1622dupA:p.X541delinsX
CNOT2:NM_001199302:exon17:c.1622dupA:p.X541delinsX
0.0016 CNOT2
chr12 70353913 rs751341232 CNOT2 CNOT2:NM_001199303:exon16:c.1621_1622insAA:p.X541delinsX
CNOT2:NM_014515:exon16:c.1621_1622insAA:p.X541delinsX
CNOT2:NM_001199302:exon17:c.1621_1622insAA:p.X541delinsX
0.0011 CNOT2
chr12 70353914 . CNOT2 CNOT2:NM_001199303:exon16:c.1622_1623del:p.*541fs
CNOT2:NM_014515:exon16:c.1622_1623del:p.*541fs
CNOT2:NM_001199302:exon17:c.1622_1623del:p.*541fs
0.003 CNOT2
chr15 70668039 rs777766591 UACA UACA:NM_001008224:exon16:c.2605_2606del:p.E869fs
UACA:NM_018003:exon16:c.2644_2645del:p.E882fs
1.695E-05 UACA
chr6 70798667 rs770216950 SMAP1 SMAP1:NM_001281439:exon5:c.425delA:p.E142fs
SMAP1:NM_021940:exon5:c.425delA:p.E142fs
SMAP1:NM_001044305:exon6:c.506delA:p.E169fs
SMAP1:NM_001281440:exon6:c.476delA:p.E159fs
0.0712 SMAP1
chr15 70980134 rs34188459 LRRC49 LRRC49:NM_001199017:exon10:c.970delA:p.K324fs
LRRC49:NM_017691:exon10:c.955delA:p.K319fs
LRRC49:NM_001199018:exon11:c.823delA:p.K275fs
LRRC49:NM_001284357:exon11:c.925delA:p.K309fs
. LRRC49
chrX 71911269 . NHSL2 NHSL2:NM_001013627:exon1:c.182_183insGGGGCGCCGCACAGACAGCCTGTACC:p.L61fs . NHSL2
chr13 72727922 rs777981082 BORA BORA:NM_024808:exon1:c.81dupA:p.L27fs 0.0007 BORA
chr13 72743602 rs370727431 BORA BORA:NM_001286747:exon5:c.244_245insGTGA:p.A82fs
BORA:NM_001286746:exon6:c.679_680insGTGA:p.A227fs
BORA:NM_024808:exon6:c.634_635insGTGA:p.A212fs
0.0506 BORA
chr16 72788687 rs754285553 ZFHX3 ZFHX3:NM_001164766:exon9:c.6846_6847insAG:p.Q2283fs
ZFHX3:NM_006885:exon10:c.9588_9589insAG:p.Q3197fs
0.0002 ZFHX3
chr16 72788692 rs762219131 ZFHX3 ZFHX3:NM_001164766:exon9:c.6841_6842insT:p.P2281fs
ZFHX3:NM_006885:exon10:c.9583_9584insT:p.P3195fs
0.0005 ZFHX3
chr3 73062330 rs3832186 EBLN2 EBLN2:NM_018029:exon1:c.250dupA:p.N83fs 0.167 EBLN2
chr14 73105899 rs150988201 RBM25 RBM25:NM_021239:exon11:c.1195_1196del:p.R399fs 0.0989 RBM25
chr5 73128413 rs774414801 TMEM171 TMEM171:NM_001161342:exon3:c.664delC:p.P222fs
TMEM171:NM_173490:exon3:c.664delC:p.P222fs
0.0003 TMEM171
chr17 73245183 rs202220073 C17orf80 C17orf80:NM_001288771:exon5:c.1637_1640del:p.R546fs
C17orf80:NM_001100622:exon6:c.1745_1748del:p.R582fs
0.0091 C17orf80
chr17 73247329 rs542173814 C17orf80 C17orf80:NM_001100621:exon5:c.1710_1711del:p.T570fs
C17orf80:NM_001288770:exon5:c.1710_1711del:p.T570fs
C17orf80:NM_017941:exon6:c.1818_1819del:p.T606fs
0.0004 C17orf80
chr8 73259432 . C8orf89 C8orf89:NM_001243237:exon1:c.27delA:p.K9fs . C8orf89
chr14 73537654 rs777791914 ACOT1 ACOT1:NM_001037161:exon1:c.234dupG:p.M78fs 0.0008 ACOT1
chr14 73592321 rs749641100 ACOT4 ACOT4:NM_152331:exon1:c.363dupC:p.C121fs 0.0012 ACOT4
chr14 73593807 rs373880503 ACOT4 ACOT4:NM_152331:exon2:c.563_564insTCAA:p.L188fs 0.127 ACOT4
chr14 73593810 rs375801976 ACOT4 ACOT4:NM_152331:exon2:c.566_569del:p.A189fs 0.1311 ACOT4
chr10 73647531 rs768606281 SYNPO2L SYNPO2L:NM_024875:exon2:c.1448dupC:p.P483fs
SYNPO2L:NM_001114133:exon4:c.2120dupC:p.P707fs
0.0011 SYNPO2L
chr17 73756361 rs58614631 LOC100134391 LOC100134391:NM_001278587:exon6:c.848_849insT:p.S283fs . LOC100134391
chr7 73861226 rs781822454 WBSCR28 WBSCR28:NM_182504:exon1:c.32delT:p.L11fs 8.308E-06 WBSCR28
chr15 74035820 . PML PML:NM_033250:exon7:c.2215delG:p.V739fs
PML:NM_033239:exon8:c.2359delG:p.V787fs
. PML
chr14 74048021 rs747134194 CCDC176 CCDC176:NM_025057:exon7:c.740dupA:p.Q247fs 1.689E-05 CCDC176
chr1 74109528 rs761276681 LRRIQ3 LRRIQ3:NM_001105659:exon5:c.732dupA:p.Q245fs 0.0384 LRRIQ3
chr4 74174506 rs772183605 MTHFD2L MTHFD2L:NM_001144978:exon2:c.144_145insT:p.R48fs 3.033E-05 MTHFD2L
chr17 74344294 rs532366391 KIF19 KIF19:NM_153209:exon6:c.528delG:p.K176fs 0.0039 KIF19
chr16 74411019 rs529381474 CLEC18B CLEC18B:NM_001011880:exon9:c.999dupG:p.L334fs 0.0009 CLEC18B
chr15 74543974 rs540147284 ARID3B ARID3B:NM_006465:exon2:c.38_39insGC:p.Q13fs 2.907E-05 ARID3B
chr15 74543975 rs529059345 ARID3B ARID3B:NM_006465:exon2:c.39_40insG:p.Q13fs 1.986E-05 ARID3B
chr2 74575428 rs746681618 M1AP M1AP:NM_001281296:exon7:c.1073_1074del:p.L358fs
M1AP:NM_138804:exon7:c.1073_1074del:p.L358fs
0.0001 M1AP
chr11 74625563 rs765075954 POLD3 POLD3:NM_006591:exon8:c.890dupA:p.E297fs 0.0011 POLD3
chr17 74842649 . GRIN2C GRIN2C:NM_000835:exon13:c.3487dupG:p.A1163fs . GRIN2C
chr17 74842991 . GRIN2C GRIN2C:NM_000835:exon13:c.3145_3146insCCCGGAGC:p.L1049fs . GRIN2C
chr14 74955170 . PGF PGF:NM_001207012:exon1:c.73delC:p.Q25fs
PGF:NM_001293643:exon1:c.73delC:p.Q25fs
PGF:NM_002632:exon1:c.73delC:p.Q25fs
. PGF
chr11 74994610 rs552706985 NEU3 NEU3:NM_006656:exon2:c.196delC:p.P66fs 0.0001 NEU3
chr17 75136068 rs555589302 HN1 HN1:NM_001002032:exon4:c.477_480del:p.V159fs 0.0001 HN1
chr18 75285894 . TSHZ1 TSHZ1:NM_005786:exon2:c.352_353del:p.C118fs . TSHZ1
chr18 75285900 . TSHZ1 TSHZ1:NM_005786:exon2:c.358_364del:p.V120fs . TSHZ1
chr18 75285909 . TSHZ1 TSHZ1:NM_005786:exon2:c.367_371del:p.T123fs . TSHZ1
chr12 75293265 rs535656542 CAPS2 CAPS2:NM_001286547:exon11:c.957_958insATCAAATA:p.A320_L321delinsIKX
CAPS2:NM_001286548:exon13:c.507_508insATCAAATA:p.A170_L171delinsIKX
CAPS2:NM_032606:exon13:c.1203_1204insATCAAATA:p.A402_L403delinsIKX
0.0058 CAPS2
chr12 75431104 rs753913763 GLIPR1L2 GLIPR1L2:NM_001270396:exon6:c.978delG:p.E326fs 0.0002 GLIPR1L2
chr12 75431110 rs758875926 GLIPR1L2 GLIPR1L2:NM_001270396:exon6:c.984_985del:p.E328fs 0.0002 GLIPR1L2
chr4 75614395 rs763964952 CDKL2 CDKL2:NM_003948:exon3:c.222dupA:p.R75fs 0.0012 CDKL2
chr14 75622130 rs748711517 FLVCR2 FLVCR2:NM_001195283:exon2:c.106_116del:p.E36fs
FLVCR2:NM_017791:exon2:c.721_731del:p.E241fs
8.236E-06 FLVCR2
chr3 75665674 rs373728386 FRG2C FRG2C:NM_001124759:exon4:c.482delG:p.R161fs . FRG2C
chr3 75732062 rs750314723 ZNF717 ZNF717:NM_001290210:exon5:c.337delG:p.E113fs 0.3478 ZNF717
chr3 75737237 rs758432215 ZNF717 ZNF717:NM_001128223:exon5:c.2385_2386del:p.F795fs
ZNF717:NM_001290208:exon5:c.2385_2386del:p.F795fs
ZNF717:NM_001290209:exon5:c.2235_2236del:p.F745fs
7.052E-05 ZNF717
chr3 75737610 rs145576551 ZNF717 ZNF717:NM_001128223:exon5:c.2013delG:p.G671fs
ZNF717:NM_001290208:exon5:c.2013delG:p.G671fs
ZNF717:NM_001290209:exon5:c.1863delG:p.G621fs
0.4946 ZNF717
chr3 75737744 rs144168413 ZNF717 ZNF717:NM_001128223:exon5:c.1879delA:p.T627fs
ZNF717:NM_001290208:exon5:c.1879delA:p.T627fs
ZNF717:NM_001290209:exon5:c.1729delA:p.T577fs
0.5047 ZNF717
chr3 75738116 rs776210532 ZNF717 ZNF717:NM_001128223:exon5:c.1506_1507del:p.T502fs
ZNF717:NM_001290208:exon5:c.1506_1507del:p.T502fs
ZNF717:NM_001290209:exon5:c.1356_1357del:p.T452fs
0.0099 ZNF717
chr3 75738661 rs143242394 ZNF717 ZNF717:NM_001128223:exon5:c.961dupA:p.S321fs
ZNF717:NM_001290208:exon5:c.961dupA:p.S321fs
ZNF717:NM_001290209:exon5:c.811dupA:p.S271fs
0.0017 ZNF717
chr3 75739225 rs749453662 ZNF717 ZNF717:NM_001128223:exon5:c.397_398insAA:p.T133fs
ZNF717:NM_001290208:exon5:c.397_398insAA:p.T133fs
ZNF717:NM_001290209:exon5:c.247_248insAA:p.T83fs
0.0756 ZNF717
chr3 75741632 . ZNF717 ZNF717:NM_001128223:exon3:c.161_162insTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGAC:p.T54_Y55delinsTYNSLLSLQELASFEEVAMHFTWEEX
ZNF717:NM_001290208:exon3:c.161_162insTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGAC:p.T54_Y55delinsTYNSLLSLQELASFEEVAMHFTWEEX
ZNF717:NM_001290209:exon3:c.11_12insTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGAC:p.T4_Y5delinsTYNSLLSLQELASFEEVAMHFTWEEX
ZNF717:NM_001290210:exon3:c.161_162insTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGAC:p.T54_Y55delinsTYNSLLSLQELASFEEVAMHFTWEEX
0.0595 ZNF717
chr3 75741644 . ZNF717 ZNF717:NM_001128223:exon3:c.149_150insCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACAT:p.V50_M51delinsVLX
ZNF717:NM_001290208:exon3:c.149_150insCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACAT:p.V50_M51delinsVLX
ZNF717:NM_001290210:exon3:c.149_150insCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACAT:p.V50_M51delinsVLX
0.0049 ZNF717
chr3 75741647 rs780497427 ZNF717 ZNF717:NM_001128223:exon3:c.146_147insTGTGATGCTGGAGACTTATAACAGCCTGCTATCATTACAGGAGTTGG:p.D49fs
ZNF717:NM_001290208:exon3:c.146_147insTGTGATGCTGGAGACTTATAACAGCCTGCTATCATTACAGGAGTTGG:p.D49fs
ZNF717:NM_001290210:exon3:c.146_147insTGTGATGCTGGAGACTTATAACAGCCTGCTATCATTACAGGAGTTGG:p.D49fs
0.0051 ZNF717
chr6 75890140 rs551348450 MYO6 MYO6:NM_001300899:exon26:c.2743dupA:p.Q914fs
MYO6:NM_004999:exon26:c.2743dupA:p.Q914fs
0.0044 MYO6
chr17 75899613 rs780016287 MRPL38 MRPL38:NM_032478:exon7:c.771dupC:p.F258fs 4.714E-05 MRPL38
chr12 76031154 rs762049378 PHLDA1 PHLDA1:NM_007350:exon1:c.588delG:p.Q196fs 0.0008 PHLDA1
chr12 76031156 rs763500161 PHLDA1 PHLDA1:NM_007350:exon1:c.582_586del:p.Q194fs 0.0014 PHLDA1
chr17 76077367 rs67693166 GALR2 GALR2:NM_003857:exon2:c.1100_1109del:p.C367fs 0.0316 GALR2
chr4 76082522 rs767677771 ART3 ART3:NM_001130016:exon3:c.768delT:p.C256fs
ART3:NM_001130017:exon3:c.768delT:p.C256fs
ART3:NM_001179:exon3:c.768delT:p.C256fs
0.0002 ART3
chr7 76281745 . SRRM3 SRRM3:NM_001110199:exon12:c.1313delC:p.A438fs
SRRM3:NM_001291831:exon12:c.1313delC:p.A438fs
. SRRM3
chr4 76367437 rs758117451 CCDC158 CCDC158:NM_001042784:exon11:c.1687delG:p.V563X 8.28E-06 CCDC158
chr18 76496529 rs782788867 C18orf65 C18orf65:NM_001272093:exon2:c.330dupG:p.T110fs 0.0012 C18orf65
chr14 77027445 rs774349152 IRF2BPL IRF2BPL:NM_024496:exon1:c.348delG:p.Q116fs 0.0118 IRF2BPL
chr14 77027447 rs761663166 IRF2BPL IRF2BPL:NM_024496:exon1:c.339_346del:p.Q113fs 0.0148 IRF2BPL
chr14 77027447 rs776735350 IRF2BPL IRF2BPL:NM_024496:exon1:c.336_346del:p.Q112fs 0.0083 IRF2BPL
chr14 77027488 . IRF2BPL IRF2BPL:NM_024496:exon1:c.224_305del:p.P75fs 0.0175 IRF2BPL
chr11 77184726 rs143953991 MYO7A MYO7A:NM_001127179:exon27:c.3514_3535del:p.G1172fs 0.3097 MYO7A
chr11 77243743 rs76229203 GDPD4 GDPD4:NM_182833:exon12:c.1191dupT:p.I398fs 0.311 GDPD4
chr5 77693225 rs764175645 TBCA TBCA:NM_001297738:exon3:c.286dupT:p.S96fs 0.0062 TBCA
chr13 77698132 rs71102771 SLAIN1 SLAIN1:NM_001242868:exon1:c.219_220insGG:p.A73fs 0 SLAIN1
chr13 77698141 rs71102772 SLAIN1 SLAIN1:NM_001242868:exon1:c.229dupC:p.Q76fs 0 SLAIN1
chr14 77715860 rs776989213 SLIRP SLIRP:NM_001267863:exon3:c.245_249del:p.H82fs
SLIRP:NM_001267864:exon3:c.245_249del:p.H82fs
SLIRP:NM_031210:exon3:c.245_249del:p.H82fs
8.336E-06 SLIRP
chr4 77720570 rs773856819 CNOT6L CNOT6L:NM_001286790:exon12:c.1528_1529del:p.Q510fs
CNOT6L:NM_144571:exon12:c.1528_1529del:p.Q510fs
4.143E-05 CNOT6L
chr16 77741846 rs528673952 NUDT7 NUDT7:NM_001243661:exon3:c.455dupA:p.E152fs
NUDT7:NM_001105663:exon4:c.614dupA:p.E205fs
NUDT7:NM_001243660:exon4:c.569dupA:p.E190fs
0.0012 NUDT7
chr10 78026126 rs772708260 POLR3A POLR3A:NM_007055:exon2:c.147_148insT:p.P50fs 8.238E-06 POLR3A
chr11 78174332 rs757028799 KCTD21 KCTD21:NM_001029859:exon2:c.223delC:p.Q75fs 2.472E-05 KCTD21
chr15 78593154 rs773626999 CHRNA3,CHRNA5 CHRNA5:NM_000745:exon6:c.1308_1312del:p.L436fs
CHRNA3:NM_001166694:exon6:c.1423_1427del:p.R475fs
8.239E-06 CHRNA3,CHRNA5
chr15 78765841 rs781638345 ADAMTS7 ADAMTS7:NM_014272:exon19:c.4069_4070insGGACCCA:p.K1357fs 0.0101 ADAMTS7
chr17 78997345 rs587776897 CANT1 CANT1:NM_138793:exon2:c.277_278del:p.L93fs
CANT1:NM_001159773:exon3:c.277_278del:p.L93fs
CANT1:NM_001159772:exon4:c.277_278del:p.L93fs
7.454E-05 CANT1
chr13 79344671 rs766396670 RBM26 RBM26:NM_001286632:exon14:c.2109dupA:p.Q704fs
RBM26:NM_022118:exon14:c.2100dupA:p.Q701fs
RBM26:NM_001286631:exon15:c.2187dupA:p.Q730fs
0.0086 RBM26
chr12 79690120 . PAWR PAWR:NM_002583:exon2:c.125delC:p.P42fs . PAWR
chr10 79710486 . NUTM2B NUTM2B:NM_001278495:exon5:c.1456_1457insAGAG:p.H486fs . NUTM2B
chr10 79710490 . NUTM2B NUTM2B:NM_001278495:exon5:c.1460_1463del:p.R487fs . NUTM2B
chr8 79766259 rs142613628 HEY1 HEY1:NM_001282851:wholegene 0.2089 HEY1
chr10 80081665 rs113172526 TMEM254 TMEM254:NM_001270371:exon2:c.114dupA:p.S38fs
TMEM254:NM_001270374:exon2:c.39dupA:p.S13fs
0.1911 TMEM254
chr10 80081665 rs767264184 TMEM254 TMEM254:NM_001270371:exon2:c.113_114insAA:p.S38fs
TMEM254:NM_001270374:exon2:c.38_39insAA:p.S13fs
0.0611 TMEM254
chr10 80081666 rs771123879 TMEM254 TMEM254:NM_001270371:exon2:c.114delA:p.S38fs
TMEM254:NM_001270374:exon2:c.39delA:p.S13fs
0.0369 TMEM254
chr10 80081673 rs143538725 TMEM254 TMEM254:NM_001270371:exon2:c.121_124del:p.K41fs
TMEM254:NM_001270374:exon2:c.46_49del:p.K16fs
0.0625 TMEM254
chr17 80090149 . CCDC40 CCDC40:NM_001243342:exon18:c.2843_2970del:p.R948fs 0.0002 CCDC40
chr17 80090202 . CCDC40 CCDC40:NM_001243342:exon18:c.2896_2959del:p.G966fs 0.0028 CCDC40
chr17 80090234 . CCDC40 CCDC40:NM_001243342:exon18:c.2928_2959del:p.Q976fs 0.0006 CCDC40
chr17 80090318 rs758946774 CCDC40 CCDC40:NM_001243342:exon18:c.3012_3040del:p.T1004fs 0.0043 CCDC40
chr17 80090387 rs71163918 CCDC40 CCDC40:NM_001243342:exon18:c.3081_3124del:p.T1027fs 0.1771 CCDC40
chr12 80549727 rs141686707 PTPRQ PTPRQ:NM_001145026:exon25:c.4278_4285del:p.P1426fs 0.041 PTPRQ
chr5 80654888 rs773094831 MSH3 MSH3:NM_002439:exon1:c.161delC:p.A54fs 0 MSH3
chr5 80654890 rs766982358 MSH3 MSH3:NM_002439:exon1:c.163_179del:p.A55fs 0 MSH3
chr7 80674145 rs77993308 CD36 CD36:NM_001289908:exon10:c.1300_1390del:p.*434fs
CD36:NM_001127444:exon12:c.1417_1714del:p.*473fs
CD36:NM_001289909:exon12:c.1237_1418del:p.*413fs
CD36:NM_001289911:exon12:c.1189_1472del:p.*397fs
CD36:NM_001127443:exon13:c.1417_1539del:p.*473fs
CD36:NM_000072:exon14:c.1417_1833del:p.*473fs
CD36:NM_001001547:exon14:c.1417_1794del:p.*473fs
0.0145 CD36
chr14 80916514 rs762242586 CEP128 CEP128:NM_152446:exon2:c.34delC:p.R12fs 2.475E-05 CEP128
chr16 81208544 rs55980345 PKD1L2 PKD1L2:NM_001076780:exon4:c.706_707del:p.N236fs 0.4641 PKD1L2
chr17 81868811 rs778903662 ARHGDIA ARHGDIA:NM_001301242:exon7:c.568delC:p.Q190fs 0.0005 ARHGDIA
chr17 81868830 rs758232372 ARHGDIA ARHGDIA:NM_001301242:exon7:c.543_549del:p.T181fs 0.0003 ARHGDIA
chr17 82586179 . FOXK2 FOXK2:NM_004514:exon7:c.1555_1576del:p.G519fs 0.0003 FOXK2
chr17 82586179 . FOXK2 FOXK2:NM_004514:exon7:c.1555_1576del:p.G519fs 0.0095 FOXK2
chr17 82657898 rs764520009 RAB40B RAB40B:NM_006822:exon6:c.801dupC:p.K268fs 0.0013 RAB40B
chr17 82718962 rs781761828 FN3KRP FN3KRP:NM_024619:exon2:c.199dupA:p.N66fs 0.0006 FN3KRP
chr15 83008518 rs534261421 C15orf40 C15orf40:NM_001160113:exon3:c.395dupT:p.L132fs 0.185 C15orf40
chr15 83008518 rs534261421 C15orf40 C15orf40:NM_001160113:exon3:c.395_396insTT:p.L132fs 0.0069 C15orf40
chr15 83008519 rs373204607 C15orf40 C15orf40:NM_001160113:exon3:c.395delT:p.L132X 0.2692 C15orf40
chr15 83008519 rs778918314 C15orf40 C15orf40:NM_001160113:exon3:c.394_395del:p.L132fs 0.0151 C15orf40
chr15 83010334 rs762519924 C15orf40 C15orf40:NM_001160113:exon2:c.138_141del:p.E46fs
C15orf40:NM_001160114:exon2:c.138_141del:p.E46fs
C15orf40:NM_001160115:exon2:c.138_141del:p.E46fs
C15orf40:NM_001160116:exon2:c.138_141del:p.E46fs
C15orf40:NM_144597:exon2:c.138_141del:p.E46fs
4.942E-05 C15orf40
chr15 83011537 rs370388542 C15orf40 C15orf40:NM_001160113:exon1:c.67_71del:p.L23fs
C15orf40:NM_001160114:exon1:c.67_71del:p.L23fs
C15orf40:NM_001160115:exon1:c.67_71del:p.L23fs
C15orf40:NM_001160116:exon1:c.67_71del:p.L23fs
C15orf40:NM_144597:exon1:c.67_71del:p.L23fs
0.0005 C15orf40
chrX 84321908 rs773909683 HDX HDX:NM_001177478:exon10:c.1880delA:p.N627fs
HDX:NM_144657:exon10:c.2054delA:p.N685fs
HDX:NM_001177479:exon11:c.2054delA:p.N685fs
0 HDX
chr1 85132996 rs145165915 WDR63 WDR63:NM_001288563:exon22:c.2558dupA:p.X853delinsX
WDR63:NM_145172:exon23:c.2675dupA:p.X892delinsX
0.0605 WDR63
chr12 85244868 rs5799725 LRRIQ1 LRRIQ1:NM_001079910:exon27:c.5096delA:p.E1699fs 0.2853 LRRIQ1
chr11 85635776 rs776794034 TMEM126B TMEM126B:NM_001256547:exon3:c.369_370insAAGTAAGT:p.T123_K124delinsTKX
TMEM126B:NM_018480:exon4:c.507_508insAAGTAAGT:p.T169_K170delinsTKX
TMEM126B:NM_001193537:exon5:c.447_448insAAGTAAGT:p.T149_K150delinsTKX
TMEM126B:NM_001193538:exon5:c.417_418insAAGTAAGT:p.T139_K140delinsTKX
TMEM126B:NM_001256546:exon5:c.417_418insAAGTAAGT:p.T139_K140delinsTKX
0.0001 TMEM126B
chr8 86069587 rs766162647 PSKH2 PSKH2:NM_033126:exon1:c.36delG:p.G12fs 0.0001 PSKH2
chr8 86214406 rs56993779 SLC7A13 SLC7A13:NM_138817:exon4:c.1413_1511del:p.*471fs 0.1957 SLC7A13
chr4 87313945 rs80182459 HSD17B13 HSD17B13:NM_001136230:exon4:c.465delC:p.A155fs
HSD17B13:NM_178135:exon5:c.573delC:p.A191fs
0.0186 HSD17B13
chr7 87444965 rs765735641 ABCB4 ABCB4:NM_000443:exon10:c.1015dupT:p.S339fs
ABCB4:NM_018849:exon10:c.1015dupT:p.S339fs
ABCB4:NM_018850:exon10:c.1015dupT:p.S339fs
0.0032 ABCB4
chr4 87615924 rs753065199 DSPP DSPP:NM_014208:exon5:c.3262delA:p.S1088fs 0.0015 DSPP
chr4 87615926 rs757342069 DSPP DSPP:NM_014208:exon5:c.3264_3274del:p.S1088fs 0.0005 DSPP
chr9 87887264 rs781119549 SPATA31E1 SPATA31E1:NM_178828:exon4:c.2777_2778insGCAGGAGGGAGTCCAGAGGCCAG:p.E926fs 2.49E-05 SPATA31E1
chr9 87919276 rs758896527 SPATA31C1 SPATA31C1:NM_001145124:exon2:c.211_221del:p.H71fs 0.0003 SPATA31C1
chr9 87919291 rs776971060 SPATA31C1 SPATA31C1:NM_001145124:exon2:c.226_232del:p.C76fs 0.0001 SPATA31C1
chr9 87922765 rs777655689 SPATA31C1 SPATA31C1:NM_001145124:exon4:c.2858delG:p.S953fs 8.704E-06 SPATA31C1
chr12 88118527 rs769761100 CEP290 CEP290:NM_025114:exon17:c.1666dupA:p.I556fs 0.0073 CEP290
chr16 88533288 rs796900280 ZFPM1 ZFPM1:NM_153813:exon10:c.1330_1331del:p.E444fs 0.9736 ZFPM1
chr16 88533293 rs67322929 ZFPM1 ZFPM1:NM_153813:exon10:c.1335delT:p.P445fs 0.977 ZFPM1
chr16 88534143 . ZFPM1 ZFPM1:NM_153813:exon10:c.2185delC:p.P729fs . ZFPM1
chr16 88534224 . ZFPM1 ZFPM1:NM_153813:exon10:c.2266delC:p.P756fs . ZFPM1
chr16 88611284 rs771230771 ZC3H18 ZC3H18:NM_144604:exon8:c.1223_1224del:p.R408fs
ZC3H18:NM_001294340:exon9:c.1295_1296del:p.R432fs
0.0039 ZC3H18
chr16 88714227 rs571090098 CTU2 CTU2:NM_001012759:exon10:c.1097_1098insGTGT:p.R366fs
CTU2:NM_001012762:exon10:c.1097_1098insGTGT:p.R366fs
0.4838 CTU2
chr16 88714227 rs397761749 CTU2 CTU2:NM_001012759:exon10:c.1097_1097del:p.R366fs
CTU2:NM_001012762:exon10:c.1097_1097del:p.R366fs
0.8037 CTU2
chr10 88726859 rs749596272 LIPK LIPK:NM_001080518:exon2:c.170_174del:p.Y57fs 0.0001 LIPK
chr16 88950257 . LOC100129697 LOC100129697:NM_001290330:exon2:c.139_140insTCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGA:p.V47fs 0 LOC100129697
chr1 88983825 rs772008437 RBMXL1 RBMXL1:NM_019610:exon2:c.1dupA:p.M1fs
RBMXL1:NM_001162536:exon3:c.1dupA:p.M1fs
0.01 RBMXL1
chr1 88983826 rs745448340 RBMXL1 RBMXL1:NM_019610:exon2:c.1delA:p.M1fs
RBMXL1:NM_001162536:exon3:c.1delA:p.M1fs
0.2354 RBMXL1
chr1 89007758 rs548474277 GBP3 GBP3:NM_018284:exon11:c.1753dupA:p.T585fs 0.018 GBP3
chr1 89133286 rs769532145 GBP7 GBP7:NM_207398:exon10:c.1633_1634insA:p.L545fs 6.719E-05 GBP7
chr1 89190242 rs557520852 GBP4 GBP4:NM_052941:exon7:c.992_993del:p.T331fs 0.0001 GBP4
chr16 89224802 rs113560259 ZNF778 ZNF778:NM_001201407:exon5:c.328_329insGTGA:p.E110fs 0.8138 ZNF778
chr1 89263884 rs556565480 GBP5 GBP5:NM_001134486:exon8:c.1214delG:p.C405fs
GBP5:NM_052942:exon9:c.1214delG:p.C405fs
0.0045 GBP5
chr10 89418295 rs760371571 IFIT5 IFIT5:NM_012420:exon2:c.1096delC:p.R366fs 0.0002 IFIT5
chr16 89589901 . CPNE7 CPNE7:NM_153636:exon11:c.1066_1067del:p.K356fs
CPNE7:NM_014427:exon13:c.1291_1292del:p.K431fs
. CPNE7
chr11 89711442 rs553410308 TRIM77 TRIM77:NM_001146162:exon2:c.445dupA:p.W148fs
TRIM77:NM_001271942:exon2:c.445dupA:p.W148fs
0.0128 TRIM77
chr10 89723990 rs765982617 KIF20B KIF20B:NM_001284259:exon14:c.1750dupA:p.L583fs
KIF20B:NM_016195:exon14:c.1750dupA:p.L583fs
0.0014 KIF20B
chr15 89751073 rs759335947 MESP1 MESP1:NM_018670:exon1:c.158dupC:p.A53fs 0.0957 MESP1
chr15 89751075 rs763577487 MESP1 MESP1:NM_018670:exon1:c.156_157insCCGAGCCCCGT:p.A53fs 0.064 MESP1
chr15 89776915 rs760347135 MESP2 MESP2:NM_001039958:exon1:c.558_562del:p.Q186fs 0.01 MESP2
chr15 89776924 rs765075155 MESP2 MESP2:NM_001039958:exon1:c.567_585del:p.G189fs 0.0006 MESP2
chr6 89867988 rs527250207 CASP8AP2 CASP8AP2:NM_001137667:exon8:c.4698delG:p.L1566fs
CASP8AP2:NM_001137668:exon8:c.4698delG:p.L1566fs
CASP8AP2:NM_012115:exon8:c.4698delG:p.L1566fs
0.0843 CASP8AP2
chr6 89867993 rs537929246 CASP8AP2 CASP8AP2:NM_001137667:exon8:c.4703_4719del:p.S1568fs
CASP8AP2:NM_001137668:exon8:c.4703_4719del:p.S1568fs
CASP8AP2:NM_012115:exon8:c.4703_4719del:p.S1568fs
0.0828 CASP8AP2
chr16 89971820 rs151289005 CENPBD1 CENPBD1:NM_145039:exon1:c.102dupT:p.E35_A36delinsX 0.0223 CENPBD1
chr11 90086720 rs377696645 UBTFL1 UBTFL1:NM_001143975:exon1:c.772dupT:p.R257fs 0.1951 UBTFL1
chr11 90086946 rs753371457 UBTFL1 UBTFL1:NM_001143975:exon1:c.997_1003del:p.L333fs 0 UBTFL1
chr10 91842188 rs780353534 TNKS2 TNKS2:NM_025235:exon16:c.1857dupA:p.T619fs 0.0032 TNKS2
chr10 91908847 . FGFBP3 FGFBP3:NM_152429:exon2:c.123delC:p.P41fs . FGFBP3
chr7 92042077 . AKAP9 AKAP9:NM_005751:exon19:c.4949_4950insAG:p.S1650fs
AKAP9:NM_147185:exon19:c.4949_4950insAG:p.S1650fs
. AKAP9
chr14 92071009 rs763461489 ATXN3 ATXN3:NM_001164782:exon2:c.68_69insC:p.G23fs
ATXN3:NM_001164774:exon3:c.233_234insC:p.G78fs
ATXN3:NM_001164777:exon3:c.113_114insC:p.G38fs
ATXN3:NM_001164776:exon4:c.278_279insC:p.G93fs
ATXN3:NM_001164778:exon6:c.431_432insC:p.G144fs
ATXN3:NM_001164779:exon6:c.553_554insC:p.G185fs
ATXN3:NM_001164780:exon7:c.379_380insC:p.G127fs
ATXN3:NM_001127697:exon8:c.763_764insC:p.G255fs
ATXN3:NM_001164781:exon8:c.706_707insC:p.G236fs
ATXN3:NM_001127696:exon9:c.871_872insC:p.G291fs
ATXN3:NM_030660:exon9:c.751_752insC:p.G251fs
ATXN3:NM_004993:exon10:c.916_917insC:p.G306fs
0.3624 ATXN3
chr14 92071034 rs775879957 ATXN3 ATXN3:NM_001164782:exon2:c.43_44insG:p.T15fs
ATXN3:NM_001164774:exon3:c.208_209insG:p.T70fs
ATXN3:NM_001164777:exon3:c.88_89insG:p.T30fs
ATXN3:NM_001164776:exon4:c.253_254insG:p.T85fs
ATXN3:NM_001164778:exon6:c.406_407insG:p.T136fs
ATXN3:NM_001164779:exon6:c.528_529insG:p.Q177fs
ATXN3:NM_001164780:exon7:c.354_355insG:p.Q119fs
ATXN3:NM_001127697:exon8:c.738_739insG:p.Q247fs
ATXN3:NM_001164781:exon8:c.681_682insG:p.Q228fs
ATXN3:NM_001127696:exon9:c.846_847insG:p.Q283fs
ATXN3:NM_030660:exon9:c.726_727insG:p.Q243fs
ATXN3:NM_004993:exon10:c.891_892insG:p.Q298fs
0.0271 ATXN3
chr14 92071035 rs760924707 ATXN3 ATXN3:NM_001164782:exon2:c.42_43insGCAGCAGCAGC:p.T15fs
ATXN3:NM_001164774:exon3:c.207_208insGCAGCAGCAGC:p.T70fs
ATXN3:NM_001164777:exon3:c.87_88insGCAGCAGCAGC:p.T30fs
ATXN3:NM_001164776:exon4:c.252_253insGCAGCAGCAGC:p.T85fs
ATXN3:NM_001164778:exon6:c.405_406insGCAGCAGCAGC:p.T136fs
ATXN3:NM_001164779:exon6:c.527_528insGCAGCAGCAGC:p.Q176fs
ATXN3:NM_001164780:exon7:c.353_354insGCAGCAGCAGC:p.Q118fs
ATXN3:NM_001127697:exon8:c.737_738insGCAGCAGCAGC:p.Q246fs
ATXN3:NM_001164781:exon8:c.680_681insGCAGCAGCAGC:p.Q227fs
ATXN3:NM_001127696:exon9:c.845_846insGCAGCAGCAGC:p.Q282fs
ATXN3:NM_030660:exon9:c.725_726insGCAGCAGCAGC:p.Q242fs
ATXN3:NM_004993:exon10:c.890_891insGCAGCAGCAGC:p.Q297fs
0.0013 ATXN3
chr14 92071035 rs760924707 ATXN3 ATXN3:NM_001164782:exon2:c.42_43insGCAGCAGCAGCAGC:p.T15fs
ATXN3:NM_001164774:exon3:c.207_208insGCAGCAGCAGCAGC:p.T70fs
ATXN3:NM_001164777:exon3:c.87_88insGCAGCAGCAGCAGC:p.T30fs
ATXN3:NM_001164776:exon4:c.252_253insGCAGCAGCAGCAGC:p.T85fs
ATXN3:NM_001164778:exon6:c.405_406insGCAGCAGCAGCAGC:p.T136fs
ATXN3:NM_001164779:exon6:c.527_528insGCAGCAGCAGCAGC:p.Q176fs
ATXN3:NM_001164780:exon7:c.353_354insGCAGCAGCAGCAGC:p.Q118fs
ATXN3:NM_001127697:exon8:c.737_738insGCAGCAGCAGCAGC:p.Q246fs
ATXN3:NM_001164781:exon8:c.680_681insGCAGCAGCAGCAGC:p.Q227fs
ATXN3:NM_001127696:exon9:c.845_846insGCAGCAGCAGCAGC:p.Q282fs
ATXN3:NM_030660:exon9:c.725_726insGCAGCAGCAGCAGC:p.Q242fs
ATXN3:NM_004993:exon10:c.890_891insGCAGCAGCAGCAGC:p.Q297fs
0.0383 ATXN3
chr14 92071042 rs754789530 ATXN3 ATXN3:NM_001164782:exon2:c.35_36insGC:p.K12fs
ATXN3:NM_001164774:exon3:c.200_201insGC:p.K67fs
ATXN3:NM_001164777:exon3:c.80_81insGC:p.K27fs
ATXN3:NM_001164776:exon4:c.245_246insGC:p.K82fs
ATXN3:NM_001164778:exon6:c.398_399insGC:p.K133fs
ATXN3:NM_001164779:exon6:c.520_521insGC:p.K174fs
ATXN3:NM_001164780:exon7:c.346_347insGC:p.K116fs
ATXN3:NM_001127697:exon8:c.730_731insGC:p.K244fs
ATXN3:NM_001164781:exon8:c.673_674insGC:p.K225fs
ATXN3:NM_001127696:exon9:c.838_839insGC:p.K280fs
ATXN3:NM_030660:exon9:c.718_719insGC:p.K240fs
ATXN3:NM_004993:exon10:c.883_884insGC:p.K295fs
5.827E-05 ATXN3
chr14 92071043 rs780906123 ATXN3 ATXN3:NM_001164782:exon2:c.34_35insGC:p.K12fs
ATXN3:NM_001164774:exon3:c.199_200insGC:p.K67fs
ATXN3:NM_001164777:exon3:c.79_80insGC:p.K27fs
ATXN3:NM_001164776:exon4:c.244_245insGC:p.K82fs
ATXN3:NM_001164778:exon6:c.397_398insGC:p.K133fs
ATXN3:NM_001164779:exon6:c.519_520insGC:p.K174fs
ATXN3:NM_001164780:exon7:c.345_346insGC:p.K116fs
ATXN3:NM_001127697:exon8:c.729_730insGC:p.K244fs
ATXN3:NM_001164781:exon8:c.672_673insGC:p.K225fs
ATXN3:NM_001127696:exon9:c.837_838insGC:p.K280fs
ATXN3:NM_030660:exon9:c.717_718insGC:p.K240fs
ATXN3:NM_004993:exon10:c.882_883insGC:p.K295fs
0.0001 ATXN3
chr14 92071044 . ATXN3 ATXN3:NM_001164782:exon2:c.33_34insGCAGCAGCAGCAGC:p.K12fs
ATXN3:NM_001164774:exon3:c.198_199insGCAGCAGCAGCAGC:p.K67fs
ATXN3:NM_001164777:exon3:c.78_79insGCAGCAGCAGCAGC:p.K27fs
ATXN3:NM_001164776:exon4:c.243_244insGCAGCAGCAGCAGC:p.K82fs
ATXN3:NM_001164778:exon6:c.396_397insGCAGCAGCAGCAGC:p.K133fs
ATXN3:NM_001164779:exon6:c.518_519insGCAGCAGCAGCAGC:p.Q173fs
ATXN3:NM_001164780:exon7:c.344_345insGCAGCAGCAGCAGC:p.Q115fs
ATXN3:NM_001127697:exon8:c.728_729insGCAGCAGCAGCAGC:p.Q243fs
ATXN3:NM_001164781:exon8:c.671_672insGCAGCAGCAGCAGC:p.Q224fs
ATXN3:NM_001127696:exon9:c.836_837insGCAGCAGCAGCAGC:p.Q279fs
ATXN3:NM_030660:exon9:c.716_717insGCAGCAGCAGCAGC:p.Q239fs
ATXN3:NM_004993:exon10:c.881_882insGCAGCAGCAGCAGC:p.Q294fs
. ATXN3
chr14 92071044 rs747804276 ATXN3 ATXN3:NM_001164782:exon2:c.33_34insGCAGCAGCAGCAGCAGC:p.K12fs
ATXN3:NM_001164774:exon3:c.198_199insGCAGCAGCAGCAGCAGC:p.K67fs
ATXN3:NM_001164777:exon3:c.78_79insGCAGCAGCAGCAGCAGC:p.K27fs
ATXN3:NM_001164776:exon4:c.243_244insGCAGCAGCAGCAGCAGC:p.K82fs
ATXN3:NM_001164778:exon6:c.396_397insGCAGCAGCAGCAGCAGC:p.K133fs
ATXN3:NM_001164779:exon6:c.518_519insGCAGCAGCAGCAGCAGC:p.Q173fs
ATXN3:NM_001164780:exon7:c.344_345insGCAGCAGCAGCAGCAGC:p.Q115fs
ATXN3:NM_001127697:exon8:c.728_729insGCAGCAGCAGCAGCAGC:p.Q243fs
ATXN3:NM_001164781:exon8:c.671_672insGCAGCAGCAGCAGCAGC:p.Q224fs
ATXN3:NM_001127696:exon9:c.836_837insGCAGCAGCAGCAGCAGC:p.Q279fs
ATXN3:NM_030660:exon9:c.716_717insGCAGCAGCAGCAGCAGC:p.Q239fs
ATXN3:NM_004993:exon10:c.881_882insGCAGCAGCAGCAGCAGC:p.Q294fs
0.0001 ATXN3
chr14 92071052 rs777278826 ATXN3 ATXN3:NM_001164782:exon2:c.25_26insG:p.T9fs
ATXN3:NM_001164774:exon3:c.190_191insG:p.T64fs
ATXN3:NM_001164777:exon3:c.70_71insG:p.T24fs
ATXN3:NM_001164776:exon4:c.235_236insG:p.T79fs
ATXN3:NM_001164778:exon6:c.388_389insG:p.T130fs
ATXN3:NM_001164779:exon6:c.510_511insG:p.Q171fs
ATXN3:NM_001164780:exon7:c.336_337insG:p.Q113fs
ATXN3:NM_001127697:exon8:c.720_721insG:p.Q241fs
ATXN3:NM_001164781:exon8:c.663_664insG:p.Q222fs
ATXN3:NM_001127696:exon9:c.828_829insG:p.Q277fs
ATXN3:NM_030660:exon9:c.708_709insG:p.Q237fs
ATXN3:NM_004993:exon10:c.873_874insG:p.Q292fs
0.0494 ATXN3
chr14 92071052 . ATXN3 ATXN3:NM_001164782:exon2:c.25_26insGCAGCAG:p.T9fs
ATXN3:NM_001164774:exon3:c.190_191insGCAGCAG:p.T64fs
ATXN3:NM_001164777:exon3:c.70_71insGCAGCAG:p.T24fs
ATXN3:NM_001164776:exon4:c.235_236insGCAGCAG:p.T79fs
ATXN3:NM_001164778:exon6:c.388_389insGCAGCAG:p.T130fs
ATXN3:NM_001164779:exon6:c.510_511insGCAGCAG:p.Q171fs
ATXN3:NM_001164780:exon7:c.336_337insGCAGCAG:p.Q113fs
ATXN3:NM_001127697:exon8:c.720_721insGCAGCAG:p.Q241fs
ATXN3:NM_001164781:exon8:c.663_664insGCAGCAG:p.Q222fs
ATXN3:NM_001127696:exon9:c.828_829insGCAGCAG:p.Q277fs
ATXN3:NM_030660:exon9:c.708_709insGCAGCAG:p.Q237fs
ATXN3:NM_004993:exon10:c.873_874insGCAGCAG:p.Q292fs
. ATXN3
chr14 92071052 rs777278826 ATXN3 ATXN3:NM_001164782:exon2:c.25_26insGCAGCAGCAG:p.T9fs
ATXN3:NM_001164774:exon3:c.190_191insGCAGCAGCAG:p.T64fs
ATXN3:NM_001164777:exon3:c.70_71insGCAGCAGCAG:p.T24fs
ATXN3:NM_001164776:exon4:c.235_236insGCAGCAGCAG:p.T79fs
ATXN3:NM_001164778:exon6:c.388_389insGCAGCAGCAG:p.T130fs
ATXN3:NM_001164779:exon6:c.510_511insGCAGCAGCAG:p.Q171fs
ATXN3:NM_001164780:exon7:c.336_337insGCAGCAGCAG:p.Q113fs
ATXN3:NM_001127697:exon8:c.720_721insGCAGCAGCAG:p.Q241fs
ATXN3:NM_001164781:exon8:c.663_664insGCAGCAGCAG:p.Q222fs
ATXN3:NM_001127696:exon9:c.828_829insGCAGCAGCAG:p.Q277fs
ATXN3:NM_030660:exon9:c.708_709insGCAGCAGCAG:p.Q237fs
ATXN3:NM_004993:exon10:c.873_874insGCAGCAGCAG:p.Q292fs
0.007 ATXN3
chr14 92071052 rs777278826 ATXN3 ATXN3:NM_001164782:exon2:c.25_26insGCAGCAGCAGCAGCAGCAG:p.T9fs
ATXN3:NM_001164774:exon3:c.190_191insGCAGCAGCAGCAGCAGCAG:p.T64fs
ATXN3:NM_001164777:exon3:c.70_71insGCAGCAGCAGCAGCAGCAG:p.T24fs
ATXN3:NM_001164776:exon4:c.235_236insGCAGCAGCAGCAGCAGCAG:p.T79fs
ATXN3:NM_001164778:exon6:c.388_389insGCAGCAGCAGCAGCAGCAG:p.T130fs
ATXN3:NM_001164779:exon6:c.510_511insGCAGCAGCAGCAGCAGCAG:p.Q171fs
ATXN3:NM_001164780:exon7:c.336_337insGCAGCAGCAGCAGCAGCAG:p.Q113fs
ATXN3:NM_001127697:exon8:c.720_721insGCAGCAGCAGCAGCAGCAG:p.Q241fs
ATXN3:NM_001164781:exon8:c.663_664insGCAGCAGCAGCAGCAGCAG:p.Q222fs
ATXN3:NM_001127696:exon9:c.828_829insGCAGCAGCAGCAGCAGCAG:p.Q277fs
ATXN3:NM_030660:exon9:c.708_709insGCAGCAGCAGCAGCAGCAG:p.Q237fs
ATXN3:NM_004993:exon10:c.873_874insGCAGCAGCAGCAGCAGCAG:p.Q292fs
0.0045 ATXN3
chr14 92071052 . ATXN3 ATXN3:NM_001164782:exon2:c.25_26insGCAGCAGCAGCAGCAGCAGCAG:p.T9fs
ATXN3:NM_001164774:exon3:c.190_191insGCAGCAGCAGCAGCAGCAGCAG:p.T64fs
ATXN3:NM_001164777:exon3:c.70_71insGCAGCAGCAGCAGCAGCAGCAG:p.T24fs
ATXN3:NM_001164776:exon4:c.235_236insGCAGCAGCAGCAGCAGCAGCAG:p.T79fs
ATXN3:NM_001164778:exon6:c.388_389insGCAGCAGCAGCAGCAGCAGCAG:p.T130fs
ATXN3:NM_001164779:exon6:c.510_511insGCAGCAGCAGCAGCAGCAGCAG:p.Q171fs
ATXN3:NM_001164780:exon7:c.336_337insGCAGCAGCAGCAGCAGCAGCAG:p.Q113fs
ATXN3:NM_001127697:exon8:c.720_721insGCAGCAGCAGCAGCAGCAGCAG:p.Q241fs
ATXN3:NM_001164781:exon8:c.663_664insGCAGCAGCAGCAGCAGCAGCAG:p.Q222fs
ATXN3:NM_001127696:exon9:c.828_829insGCAGCAGCAGCAGCAGCAGCAG:p.Q277fs
ATXN3:NM_030660:exon9:c.708_709insGCAGCAGCAGCAGCAGCAGCAG:p.Q237fs
ATXN3:NM_004993:exon10:c.873_874insGCAGCAGCAGCAGCAGCAGCAG:p.Q292fs
. ATXN3
chr14 92071053 rs776061658 ATXN3 ATXN3:NM_001164782:exon2:c.24_25insCAGC:p.T9fs
ATXN3:NM_001164774:exon3:c.189_190insCAGC:p.T64fs
ATXN3:NM_001164777:exon3:c.69_70insCAGC:p.T24fs
ATXN3:NM_001164776:exon4:c.234_235insCAGC:p.T79fs
ATXN3:NM_001164778:exon6:c.387_388insCAGC:p.T130fs
ATXN3:NM_001164779:exon6:c.509_510insCAGC:p.K170fs
ATXN3:NM_001164780:exon7:c.335_336insCAGC:p.K112fs
ATXN3:NM_001127697:exon8:c.719_720insCAGC:p.K240fs
ATXN3:NM_001164781:exon8:c.662_663insCAGC:p.K221fs
ATXN3:NM_001127696:exon9:c.827_828insCAGC:p.K276fs
ATXN3:NM_030660:exon9:c.707_708insCAGC:p.K236fs
ATXN3:NM_004993:exon10:c.872_873insCAGC:p.K291fs
0.0294 ATXN3
chr14 92071053 rs776061658 ATXN3 ATXN3:NM_001164782:exon2:c.24_25insCAGCAGCAGC:p.T9fs
ATXN3:NM_001164774:exon3:c.189_190insCAGCAGCAGC:p.T64fs
ATXN3:NM_001164777:exon3:c.69_70insCAGCAGCAGC:p.T24fs
ATXN3:NM_001164776:exon4:c.234_235insCAGCAGCAGC:p.T79fs
ATXN3:NM_001164778:exon6:c.387_388insCAGCAGCAGC:p.T130fs
ATXN3:NM_001164779:exon6:c.509_510insCAGCAGCAGC:p.K170fs
ATXN3:NM_001164780:exon7:c.335_336insCAGCAGCAGC:p.K112fs
ATXN3:NM_001127697:exon8:c.719_720insCAGCAGCAGC:p.K240fs
ATXN3:NM_001164781:exon8:c.662_663insCAGCAGCAGC:p.K221fs
ATXN3:NM_001127696:exon9:c.827_828insCAGCAGCAGC:p.K276fs
ATXN3:NM_030660:exon9:c.707_708insCAGCAGCAGC:p.K236fs
ATXN3:NM_004993:exon10:c.872_873insCAGCAGCAGC:p.K291fs
0.032 ATXN3
chr14 92071053 rs776061658 ATXN3 ATXN3:NM_001164782:exon2:c.24_25insCAGCAGCAGCAGC:p.T9fs
ATXN3:NM_001164774:exon3:c.189_190insCAGCAGCAGCAGC:p.T64fs
ATXN3:NM_001164777:exon3:c.69_70insCAGCAGCAGCAGC:p.T24fs
ATXN3:NM_001164776:exon4:c.234_235insCAGCAGCAGCAGC:p.T79fs
ATXN3:NM_001164778:exon6:c.387_388insCAGCAGCAGCAGC:p.T130fs
ATXN3:NM_001164779:exon6:c.509_510insCAGCAGCAGCAGC:p.K170fs
ATXN3:NM_001164780:exon7:c.335_336insCAGCAGCAGCAGC:p.K112fs
ATXN3:NM_001127697:exon8:c.719_720insCAGCAGCAGCAGC:p.K240fs
ATXN3:NM_001164781:exon8:c.662_663insCAGCAGCAGCAGC:p.K221fs
ATXN3:NM_001127696:exon9:c.827_828insCAGCAGCAGCAGC:p.K276fs
ATXN3:NM_030660:exon9:c.707_708insCAGCAGCAGCAGC:p.K236fs
ATXN3:NM_004993:exon10:c.872_873insCAGCAGCAGCAGC:p.K291fs
0.0524 ATXN3
chr14 92071053 rs776061658 ATXN3 ATXN3:NM_001164782:exon2:c.24_25insCAGCAGCAGCAGCAGC:p.T9fs
ATXN3:NM_001164774:exon3:c.189_190insCAGCAGCAGCAGCAGC:p.T64fs
ATXN3:NM_001164777:exon3:c.69_70insCAGCAGCAGCAGCAGC:p.T24fs
ATXN3:NM_001164776:exon4:c.234_235insCAGCAGCAGCAGCAGC:p.T79fs
ATXN3:NM_001164778:exon6:c.387_388insCAGCAGCAGCAGCAGC:p.T130fs
ATXN3:NM_001164779:exon6:c.509_510insCAGCAGCAGCAGCAGC:p.K170fs
ATXN3:NM_001164780:exon7:c.335_336insCAGCAGCAGCAGCAGC:p.K112fs
ATXN3:NM_001127697:exon8:c.719_720insCAGCAGCAGCAGCAGC:p.K240fs
ATXN3:NM_001164781:exon8:c.662_663insCAGCAGCAGCAGCAGC:p.K221fs
ATXN3:NM_001127696:exon9:c.827_828insCAGCAGCAGCAGCAGC:p.K276fs
ATXN3:NM_030660:exon9:c.707_708insCAGCAGCAGCAGCAGC:p.K236fs
ATXN3:NM_004993:exon10:c.872_873insCAGCAGCAGCAGCAGC:p.K291fs
0.0179 ATXN3
chr7 92164508 . LRRD1 LRRD1:NM_001161528:exon1:c.691_695del:p.S231fs . LRRD1
chr7 92241101 . KRIT1 KRIT1:NM_001013406:exon4:c.151_154del:p.K51fs
KRIT1:NM_004912:exon5:c.151_154del:p.K51fs
KRIT1:NM_194454:exon5:c.151_154del:p.K51fs
KRIT1:NM_194455:exon5:c.151_154del:p.K51fs
KRIT1:NM_194456:exon6:c.151_154del:p.K51fs
. KRIT1
chr9 92494122 rs755081251 ECM2 ECM2:NM_001197296:exon10:c.1892_1893del:p.T631fs 8.872E-06 ECM2
chr1 92693809 rs760182064 EVI5 EVI5:NM_005665:exon9:c.1222delA:p.M408X 1.668E-05 EVI5
chr15 92997085 rs752940775 CHD2 CHD2:NM_001271:exon29:c.3725dupA:p.E1242fs 0.0075 CHD2
chr9 93111935 rs559300160 C9orf89 C9orf89:NM_032310:exon4:c.361_362del:p.R121fs 7.272E-05 C9orf89
chr9 93185037 . WNK2 WNK2:NM_001282394:exon1:c.108delG:p.P36fs
WNK2:NM_006648:exon1:c.108delG:p.P36fs
. WNK2
chr1 93192093 rs766180131 CCDC18 CCDC18:NM_206886:exon5:c.556delG:p.D186fs 0.0002 CCDC18
chr1 93201958 rs746565576 CCDC18 CCDC18:NM_206886:exon7:c.766dupA:p.Y255fs 0.0006 CCDC18
chr14 94563677 rs757267105 SERPINA4 SERPINA4:NM_001289032:exon2:c.306_315del:p.L102fs
SERPINA4:NM_001289033:exon2:c.195_204del:p.L65fs
SERPINA4:NM_006215:exon2:c.195_204del:p.L65fs
8.277E-06 SERPINA4
chr10 94735284 rs772029846 CYP2C18 CYP2C18:NM_001128925:exon8:c.1137dupG:p.E379fs
CYP2C18:NM_000772:exon9:c.1314dupG:p.E438fs
0.0001 CYP2C18
chr13 95939983 rs752822761 UGGT2 UGGT2:NM_020121:exon16:c.1786delC:p.H596fs 3.304E-05 UGGT2
chr2 96327593 rs776751632 ITPRIPL1 ITPRIPL1:NM_178495:exon1:c.986delG:p.W329fs
ITPRIPL1:NM_001163523:exon2:c.938delG:p.W313fs
ITPRIPL1:NM_001163524:exon2:c.938delG:p.W313fs
ITPRIPL1:NM_001008949:exon3:c.962delG:p.W321fs
0.0002 ITPRIPL1
chr2 97113751 rs141447363 ANKRD36 ANKRD36:NM_001164315:exon1:c.12delC:p.G4fs 0.0734 ANKRD36
chr2 97152524 rs746371426 ANKRD36 ANKRD36:NM_001164315:exon14:c.1183_1184del:p.A395fs 0.027 ANKRD36
chr2 97152527 rs772505240 ANKRD36 ANKRD36:NM_001164315:exon14:c.1186_1187insTT:p.V396fs 0.0286 ANKRD36
chr2 97243866 . ANKRD36 ANKRD36:NM_001164315:exon70:c.4406_4410del:p.K1469fs 0.0014 ANKRD36
chr9 97330460 rs745520951 CCDC180 CCDC180:NM_020893:exon18:c.2099_2100del:p.E700fs 0.0002 CCDC180
chr8 97775937 rs776687962 LAPTM4B LAPTM4B:NM_018407:exon1:c.201_202insGGCGGGCTCCAGGCGA:p.R67fs 0.1297 LAPTM4B
chr3 98087856 rs11369970 OR5AC2 OR5AC2:NM_054106:exon1:c.685dupA:p.L228fs 0.0119 OR5AC2
chr3 98150103 rs545465596 OR5H14 OR5H14:NM_001005514:exon1:c.718delA:p.T240fs 0.0007 OR5H14
chr3 98169000 rs377659479 OR5H15 OR5H15:NM_001005515:exon1:c.301delT:p.F101fs 0.0282 OR5H15
chr7 98212344 . BHLHA15 BHLHA15:NM_177455:exon1:c.35delC:p.A12fs . BHLHA15
chr9 98244038 rs573723711 TBC1D2 TBC1D2:NM_001267571:exon3:c.602dupC:p.P201fs
TBC1D2:NM_018421:exon3:c.602dupC:p.P201fs
0.0002 TBC1D2
chr2 98270851 rs557144998 VWA3B VWA3B:NM_144992:exon22:c.3013delA:p.K1005fs 0.0002 VWA3B
chr3 98354748 rs398102322 OR5K4 OR5K4:NM_001005517:exon1:c.895delA:p.K299fs 0.4741 OR5K4
chr3 98391562 rs145803525 OR5K3 OR5K3:NM_001005516:exon1:c.898dupA:p.M299fs 0.4754 OR5K3
chr15 98968575 rs5814919 PGPEP1L PGPEP1L:NM_001102612:exon5:c.493dupG:p.V165fs
PGPEP1L:NM_001167902:exon5:c.331dupG:p.V111fs
0.5109 PGPEP1L
chr4 99126623 rs769728282 ADH4 ADH4:NM_000670:exon8:c.1086_1089del:p.S362fs 0.0001 ADH4
chr2 99244045 rs767670251 LYG2 LYG2:NM_175735:exon5:c.462_474del:p.E154fs 8.242E-06 LYG2
chr10 99330276 rs757259018 CNNM1 CNNM1:NM_020348:exon1:c.889_892del:p.L297fs 6.069E-05 CNNM1
chr2 99371654 rs564773049 EIF5B EIF5B:NM_015904:exon9:c.1478_1478del:p.E493fs 0.0033 EIF5B
chr2 99593873 rs201754690 AFF3 AFF3:NM_001025108:exon14:c.1863delC:p.A621fs
AFF3:NM_002285:exon14:c.1788delC:p.A596fs
0.0168 AFF3
chr2 99593876 rs774601244 AFF3 AFF3:NM_001025108:exon14:c.1856_1860del:p.T619fs
AFF3:NM_002285:exon14:c.1781_1785del:p.T594fs
0.019 AFF3
chr7 99676187 rs200579169 CYP3A5 CYP3A5:NM_000777:exon2:c.92dupG:p.G31fs
CYP3A5:NM_001190484:exon2:c.92dupG:p.G31fs
CYP3A5:NM_001291830:exon3:c.62dupG:p.G21fs
0.0075 CYP3A5
chr11 99819752 rs766473062 CNTN5 CNTN5:NM_001243270:exon3:c.264_265insAACTGAGGAACCAGGCA:p.A88_F89delinsANX
CNTN5:NM_001243271:exon4:c.264_265insAACTGAGGAACCAGGCA:p.A88_F89delinsANX
CNTN5:NM_014361:exon4:c.264_265insAACTGAGGAACCAGGCA:p.A88_F89delinsANX
0.0581 CNTN5
chr11 99819752 rs766473062 CNTN5 CNTN5:NM_001243270:exon3:c.264_265insAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAA:p.A88_F89delinsANX
CNTN5:NM_001243271:exon4:c.264_265insAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAA:p.A88_F89delinsANX
CNTN5:NM_014361:exon4:c.264_265insAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAA:p.A88_F89delinsANX
0.0199 CNTN5
chr11 99819753 rs756565975 CNTN5 CNTN5:NM_001243270:exon3:c.265_266insGAGGAACCAGGCATTATTTTG:p.F89delinsX
CNTN5:NM_001243271:exon4:c.265_266insGAGGAACCAGGCATTATTTTG:p.F89delinsX
CNTN5:NM_014361:exon4:c.265_266insGAGGAACCAGGCATTATTTTG:p.F89delinsX
0.2646 CNTN5
chr11 99819754 rs749845332 CNTN5 CNTN5:NM_001243270:exon3:c.266_267insATTTTGTCGATAGATC:p.F89_K90delinsLFCRX
CNTN5:NM_001243271:exon4:c.266_267insATTTTGTCGATAGATC:p.F89_K90delinsLFCRX
CNTN5:NM_014361:exon4:c.266_267insATTTTGTCGATAGATC:p.F89_K90delinsLFCRX
0.3442 CNTN5
chr7 99836455 rs61469810 CYP3A43 CYP3A43:NM_001278921:exon2:c.74delA:p.Y25fs
CYP3A43:NM_022820:exon2:c.74delA:p.Y25fs
CYP3A43:NM_057095:exon2:c.74delA:p.Y25fs
CYP3A43:NM_057096:exon2:c.74delA:p.Y25fs
0.0547 CYP3A43
chr7 99908616 rs756622593 TRIM4 TRIM4:NM_033091:exon3:c.685dupG:p.E229fs
TRIM4:NM_033017:exon4:c.763dupG:p.E255fs
0.0001 TRIM4
chr7 100064889 rs71689664 ZNF3 ZNF3:NM_017715:exon6:c.292_295del:p.T98fs 0.2731 ZNF3
chr10 100164021 . ERLIN1 ERLIN1:NM_006459:exon8:c.637_638del:p.R213fs
ERLIN1:NM_001100626:exon9:c.637_638del:p.R213fs
. ERLIN1
chr4 100187719 rs796856504 DDIT4L DDIT4L:NM_145244:exon3:c.540delA:p.K180fs 0.0809 DDIT4L
chr7 100221192 rs201164505 PVRIG PVRIG:NM_024070:exon6:c.922_923insCT:p.T308fs 0.0158 PVRIG
chr8 100240753 rs780342865 SPAG1 SPAG1:NM_003114:exon18:c.2632dupA:p.S877fs
SPAG1:NM_172218:exon18:c.2632dupA:p.S877fs
5.932E-05 SPAG1
chr7 100430445 rs760012501 MEPCE MEPCE:NM_019606:exon1:c.427delG:p.G143fs 0.0002 MEPCE
chr8 100706997 rs758404026 PABPC1 PABPC1:NM_002568:exon10:c.1336_1337insACCTCATC:p.P446fs 0.0223 PABPC1
chr8 100709705 rs112966887 PABPC1 PABPC1:NM_002568:exon8:c.999delA:p.K333fs 0.1541 PABPC1
chr8 100717808 rs545344384 PABPC1 PABPC1:NM_002568:exon3:c.467_468insG:p.E156fs 0.2756 PABPC1
chr7 100779516 rs141127397 ZAN ZAN:NM_003386:exon35:c.6388_6389insGGGC:p.R2130fs
ZAN:NM_173059:exon35:c.6388_6389insGGGC:p.R2130fs
0.0325 ZAN
chr7 100787940 rs72364644 ZAN ZAN:NM_003386:exon38:c.7031_7065del:p.G2344fs
ZAN:NM_173059:exon38:c.7031_7065del:p.G2344fs
0.3732 ZAN
chr7 100794217 rs534693391 ZAN ZAN:NM_003386:exon44:c.8084delA:p.E2695fs 0.0003 ZAN
chr7 100952832 . MUC3A MUC3A:NM_005960:exon2:c.1053_1054insAG:p.I351fs . MUC3A
chr7 100952834 . MUC3A MUC3A:NM_005960:exon2:c.1055_1056del:p.A352fs . MUC3A
chr7 100960582 rs764123091 MUC3A MUC3A:NM_005960:exon2:c.8803_8804del:p.S2935fs 0.0983 MUC3A
chr7 100960585 rs756000364 MUC3A MUC3A:NM_005960:exon2:c.8806_8807insGT:p.R2936fs 0.1102 MUC3A
chr10 101010669 . PDZD7 PDZD7:NM_001195263:exon15:c.2220delC:p.P740fs . PDZD7
chr7 101035448 . MUC17 MUC17:NM_001040105:exon3:c.4032_4033insAG:p.V1344fs . MUC17
chr7 101035954 rs761694272 MUC17 MUC17:NM_001040105:exon3:c.4538delG:p.S1513fs 3.306E-05 MUC17
chr7 101035956 rs767447285 MUC17 MUC17:NM_001040105:exon3:c.4541dupC:p.T1514fs 2.479E-05 MUC17
chr7 101037013 . MUC17 MUC17:NM_001040105:exon3:c.5597delG:p.S1866fs . MUC17
chr7 101037015 . MUC17 MUC17:NM_001040105:exon3:c.5600dupC:p.T1867fs . MUC17
chr7 101050491 rs774878027 MUC17 MUC17:NM_001040105:exon7:c.12730_12731insGTGTGGTGGTGGAGCATGACGTCCTCCT:p.S4244fs 0.0002 MUC17
chrX 101494051 . ARMCX4 ARMCX4:NM_001256155:exon2:c.5462delC:p.A1821fs 0.0833 ARMCX4
chrX 101494053 . ARMCX4 ARMCX4:NM_001256155:exon2:c.5464_5468del:p.E1822fs 0.1189 ARMCX4
chr11 101891348 rs199645342 ANGPTL5 ANGPTL5:NM_178127:exon9:c.1097dupA:p.N366fs 0.002 ANGPTL5
chrX 102140808 rs377261254 TCEAL6 TCEAL6:NM_001006938:exon3:c.523dupC:p.Q175fs 0.9926 TCEAL6
chr2 102176724 rs376163784 IL1R1 IL1R1:NM_000877:exon12:c.1675delA:p.K559fs
IL1R1:NM_001288706:exon12:c.1582delA:p.K528fs
0.0033 IL1R1
chr7 102178640 rs781843485 CUX1 CUX1:NM_001202544:exon10:c.985delA:p.K329fs
CUX1:NM_001202545:exon10:c.895delA:p.K299fs
CUX1:NM_001202546:exon10:c.916delA:p.K306fs
CUX1:NM_001202543:exon11:c.1033delA:p.K345fs
CUX1:NM_001913:exon11:c.1033delA:p.K345fs
CUX1:NM_181500:exon11:c.1027delA:p.K343fs
CUX1:NM_181552:exon11:c.1000delA:p.K334fs
9.672E-05 CUX1
chr8 102238611 rs5893603 RRM2B RRM2B:NM_001172477:exon1:c.211dupC:p.R71fs 0.0531 RRM2B
chr7 102321473 . SH2B2 SH2B2:NM_020979:exon9:c.1871delC:p.A624fs . SH2B2
chr7 102321592 rs781870075 SH2B2 SH2B2:NM_020979:exon9:c.1990_1991del:p.R664fs 0.0682 SH2B2
chr7 102348512 rs782219786 SPDYE6 SPDYE6:NM_001146210:exon6:c.921delC:p.P307fs 2.557E-05 SPDYE6
chr10 102399656 rs775012625 NFKB2 NFKB2:NM_001261403:exon13:c.1407_1408del:p.D469fs
NFKB2:NM_001077494:exon14:c.1407_1408del:p.D469fs
NFKB2:NM_001288724:exon14:c.1407_1408del:p.D469fs
NFKB2:NM_002502:exon14:c.1407_1408del:p.D469fs
0.0055 NFKB2
chrX 102463310 rs782116629 TCP11X2 TCP11X2:NM_001277423:exon7:c.460delG:p.A154fs . TCP11X2
chr7 102496610 rs756463971 RASA4B RASA4B:NM_001277335:exon10:c.859_865del:p.P287fs 0.0737 RASA4B
chr2 102619926 . SLC9A2 SLC9A2:NM_003048:exon1:c.78delG:p.A26fs . SLC9A2
chr13 102741232 rs764729578 CCDC168 CCDC168:NM_001146197:exon4:c.9464_9465del:p.E3155fs 0.0001 CCDC168
chr13 102741468 . CCDC168 CCDC168:NM_001146197:exon4:c.9228_9229del:p.T3076fs . CCDC168
chr11 102779663 rs746110396 MMP10 MMP10:NM_002425:exon2:c.187dupA:p.I63fs 6.618E-05 MMP10
chr11 102796716 rs17879749 MMP1 MMP1:NM_001145938:exon4:c.375delT:p.I125fs
MMP1:NM_002421:exon4:c.573delT:p.I191fs
0.0116 MMP1
chr4 102901326 rs753242024 SLC9B1 SLC9B1:NM_139173:exon12:c.1338_1339del:p.V446fs 0.0024 SLC9B1
chr13 103052649 rs781456338 SLC10A2 SLC10A2:NM_000452:exon3:c.556delT:p.W186fs 0.0002 SLC10A2
chrX 103377474 rs748764160 NGFRAP1 NGFRAP1:NM_001282674:exon2:c.224dupA:p.E75fs 0.0012 NGFRAP1
chr1 103533844 rs748882456 RNPC3 RNPC3:NM_017619:exon3:c.347dupA:p.E116fs 0.1163 RNPC3
chr1 103533845 rs772963253 RNPC3 RNPC3:NM_017619:exon3:c.347delA:p.E116fs 0.3086 RNPC3
chr12 103979950 rs151041931 TDG TDG:NM_003211:exon3:c.287dupA:p.E96fs 0.4489 TDG
chr12 103984920 rs764159587 TDG TDG:NM_003211:exon8:c.965dupA:p.E322fs 1.686E-05 TDG
chr12 103984920 . TDG TDG:NM_003211:exon8:c.964_965insAGGATGCAAA:p.E322fs . TDG
chr12 103984920 . TDG TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAA:p.E322fs . TDG
chr12 103984920 . TDG TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.E322fs . TDG
chr12 103985728 rs765686214 TDG TDG:NM_003211:exon9:c.1090_1091insTTGAGAGC:p.I364fs 0.012 TDG
chr12 103985728 rs765686214 TDG TDG:NM_003211:exon9:c.1090_1091insTTGAGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGT:p.I364fs 0.0011 TDG
chr8 104348800 rs766538166 DCSTAMP DCSTAMP:NM_001257317:exon2:c.248delT:p.L83fs
DCSTAMP:NM_030788:exon2:c.248delT:p.L83fs
0.0004 DCSTAMP
chr9 104598488 rs869050059 OR13C5 OR13C5:NM_001004482:exon1:c.926delA:p.H309fs 0.2936 OR13C5
chr9 104598898 rs202235686 OR13C5 OR13C5:NM_001004482:exon1:c.513_516del:p.N171fs 0.0101 OR13C5
chr9 104605112 rs143198170 OR13C2 OR13C2:NM_001004481:exon1:c.513_516del:p.N171fs 0.2651 OR13C2
chr9 104605384 rs377668801 OR13C2 OR13C2:NM_001004481:exon1:c.243_244del:p.T81fs 0.2845 OR13C2
chr14 104931766 rs567905345 PLD4 PLD4:NM_138790:exon8:c.937_944del:p.C313fs 0.0021 PLD4
chr14 104950994 rs781528403 AHNAK2 AHNAK2:NM_138420:exon7:c.4456_4457insG:p.L1486fs 4.719E-05 AHNAK2
chr14 104994623 rs768988926 C14orf79 C14orf79:NM_174891:exon5:c.842_843del:p.Q281fs 0.0004 C14orf79
chr11 105007313 rs112680102 CASP5 CASP5:NM_001136109:exon2:c.28dupA:p.T10fs
CASP5:NM_001136112:exon3:c.241dupA:p.T81fs
CASP5:NM_004347:exon3:c.202dupA:p.T68fs
0.1226 CASP5
chr11 105008959 rs771539338 CASP5 CASP5:NM_001136112:exon2:c.67dupA:p.R23fs
CASP5:NM_004347:exon2:c.28dupA:p.R10fs
0.0039 CASP5
chr11 105008960 rs372526393 CASP5 CASP5:NM_001136112:exon2:c.67delA:p.R23fs
CASP5:NM_004347:exon2:c.28delA:p.R10fs
0.2147 CASP5
chr12 106346522 rs758758933 TCP11L2 TCP11L2:NM_152772:exon10:c.1552_1555del:p.T518fs 8.393E-06 TCP11L2
chr2 106424124 rs542018772 RGPD3 RGPD3:NM_001144013:exon20:c.3842dupA:p.N1281fs 0.001 RGPD3
chrX 106694025 rs779247842 RNF128 RNF128:NM_024539:exon1:c.23_29del:p.S8fs 0.004 RNF128
chr12 107775725 rs201513808 ASCL4 ASCL4:NM_203436:exon1:c.510delG:p.E170fs 0.0296 ASCL4
chr13 107866355 rs757208456 FAM155A FAM155A:NM_001080396:exon1:c.241_242del:p.Q81fs 1.761E-05 FAM155A
chr13 107866358 rs745413816 FAM155A FAM155A:NM_001080396:exon1:c.218_239del:p.Q73fs 1.752E-05 FAM155A
chr13 107866364 rs746638102 FAM155A FAM155A:NM_001080396:exon1:c.232_233del:p.Q78fs 0.0013 FAM155A
chr11 108593438 rs747145285 EXPH5 EXPH5:NM_015065:exon1:c.89_99del:p.E30fs 2.471E-05 EXPH5
chr3 108757146 rs5851607 RETNLB RETNLB:NM_032579:exon1:c.39_40insTAATCCCC:p.L14_L15delinsX 0.1355 RETNLB
chr3 108963571 rs778904772 MORC1 MORC1:NM_014429:exon27:c.2641dupA:p.I881fs 0.0004 MORC1
chr12 109102855 rs769537890 UNG UNG:NM_003362:exon4:c.523_524del:p.K175fs
UNG:NM_080911:exon5:c.550_551del:p.K184fs
8.244E-06 UNG
chr6 109159087 rs531772922 CEP57L1 CEP57L1:NM_001271852:exon8:c.807delT:p.P269fs
CEP57L1:NM_001271853:exon8:c.807delT:p.P269fs
CEP57L1:NM_173830:exon8:c.807delT:p.P269fs
CEP57L1:NM_001083535:exon10:c.807delT:p.P269fs
0.0006 CEP57L1
chr6 109563596 rs757788579 AK9 AK9:NM_001145128:exon24:c.2747_2751del:p.E916fs 0.0003 AK9
chr6 109632908 rs775435592 AK9 AK9:NM_145025:exon12:c.1266_1343del:p.*422fs 0.0006 AK9
chr4 110011233 rs79786166 EGF EGF:NM_001178130:exon23:c.3280dupC:p.E1093fs
EGF:NM_001178131:exon23:c.3277dupC:p.E1092fs
EGF:NM_001963:exon24:c.3403dupC:p.E1134fs
0.0415 EGF
chr9 110207465 rs201081105 C9orf152 C9orf152:NM_001012993:exon1:c.115delA:p.I39fs 0.0174 C9orf152
chr1 110379349 rs748856309 SLC16A4 SLC16A4:NM_001201548:exon4:c.203_204insAAAT:p.L68fs
SLC16A4:NM_001201546:exon5:c.389_390insAAAT:p.L130fs
SLC16A4:NM_001201547:exon5:c.347_348insAAAT:p.L116fs
SLC16A4:NM_004696:exon6:c.533_534insAAAT:p.L178fs
0.0001 SLC16A4
chr1 110379352 rs757228801 SLC16A4 SLC16A4:NM_001201548:exon4:c.200_201insTATCGCT:p.A67fs
SLC16A4:NM_001201546:exon5:c.386_387insTATCGCT:p.A129fs
SLC16A4:NM_001201547:exon5:c.344_345insTATCGCT:p.A115fs
SLC16A4:NM_004696:exon6:c.530_531insTATCGCT:p.A177fs
0.0001 SLC16A4
chr11 110430242 . FDX1 FDX1:NM_004109:exon1:c.122delG:p.R41fs . FDX1
chr12 110582954 rs71083132 PPTC7 PPTC7:NM_139283:exon1:c.77_78insGG:p.A26fs 0.0004 PPTC7
chr12 110582955 rs773773443 PPTC7 PPTC7:NM_139283:exon1:c.76_77insT:p.A26fs 0.0002 PPTC7
chr13 110641548 rs575601185 CARS2 CARS2:NM_024537:exon15:c.1683dupA:p.S562fs 0.0015 CARS2
chr12 110873854 rs778868812 CCDC63 CCDC63:NM_001286244:exon3:c.146dupA:p.E49fs
CCDC63:NM_001286243:exon4:c.263dupA:p.E88fs
CCDC63:NM_152591:exon5:c.383dupA:p.E128fs
0.0003 CCDC63
chr12 111598972 rs761449369 ATXN2 ATXN2:NM_002973:exon1:c.543delG:p.Q181fs 9.321E-05 ATXN2
chr12 111598975 rs757862555 ATXN2 ATXN2:NM_002973:exon1:c.540delG:p.Q180fs 0.0072 ATXN2
chr12 111598977 rs767766545 ATXN2 ATXN2:NM_002973:exon1:c.534_538del:p.Q178fs 0.0021 ATXN2
chr12 111598990 . ATXN2 ATXN2:NM_002973:exon1:c.525delG:p.Q175fs . ATXN2
chr12 111598992 . ATXN2 ATXN2:NM_002973:exon1:c.522_523del:p.Q174fs . ATXN2
chr12 111598993 rs780952627 ATXN2 ATXN2:NM_002973:exon1:c.522delG:p.Q174fs 0.0145 ATXN2
chr12 111598995 rs772627768 ATXN2 ATXN2:NM_002973:exon1:c.519_520del:p.Q173fs 0.0122 ATXN2
chr3 111884143 rs764903717 PHLDB2 PHLDB2:NM_001134438:exon2:c.66_67del:p.S22fs
PHLDB2:NM_001134439:exon2:c.66_67del:p.S22fs
PHLDB2:NM_145753:exon2:c.66_67del:p.S22fs
PHLDB2:NM_001134437:exon3:c.147_148del:p.S49fs
. PHLDB2
chr1 111991124 rs553069029 LOC643355 LOC643355:NM_001270945:exon1:c.229dupT:p.S76fs 0.0016 LOC643355
chr9 112175224 . SUSD1 SUSD1:NM_001282640:exon1:c.12delG:p.G4fs
SUSD1:NM_001282643:exon1:c.12delG:p.G4fs
SUSD1:NM_022486:exon1:c.12delG:p.G4fs
. SUSD1
chr6 112253874 rs782813834 LAMA4 LAMA4:NM_001105208:exon2:c.276_277del:p.S92fs
LAMA4:NM_001105209:exon2:c.276_277del:p.S92fs
0.0007 LAMA4
chr4 112278129 rs551083357 TIFA TIFA:NM_052864:exon2:c.288delG:p.L96fs 0.0005 TIFA
chr1 112491081 rs552143676 WNT2B WNT2B:NM_004185:exon2:c.125delG:p.R42fs 0.0011 WNT2B
chr3 112534211 rs570214747 ATG3 ATG3:NM_001278712:exon11:c.920dupT:p.L307fs 0.5882 ATG3
chr3 112534211 rs570214747 ATG3 ATG3:NM_001278712:exon11:c.920_921insTT:p.L307fs 0.0106 ATG3
chr2 112542424 rs746900769 POLR1B POLR1B:NM_001282772:exon2:c.44_45insTCCGGCGTGTACCGAGAGACTGGCG:p.L15fs 1.762E-05 POLR1B
chr2 112542425 rs138896228 POLR1B POLR1B:NM_001282772:exon2:c.45_69del:p.L15fs 0.1116 POLR1B
chr4 112657326 rs779739953 LARP7 LARP7:NM_015454:exon13:c.1749dupA:p.X583delinsX
LARP7:NM_016648:exon13:c.1749dupA:p.X583delinsX
LARP7:NM_001267039:exon15:c.1770dupA:p.X590delinsX
0.0363 LARP7
chr3 112827064 rs58161637 CD200R1L CD200R1L:NM_001008784:exon4:c.608delA:p.H203fs
CD200R1L:NM_001199215:exon5:c.545delA:p.H182fs
0.2642 CD200R1L
chr13 113319653 rs563136954 LAMP1 LAMP1:NM_005561:exon5:c.747_750del:p.N249fs 0.0032 LAMP1
chr13 113433679 . ADPRHL1 ADPRHL1:NM_138430:exon3:c.498_505del:p.H166fs
ADPRHL1:NM_199162:exon3:c.252_259del:p.H84fs
. ADPRHL1
chr9 113594042 rs765066898 RGS3 RGS3:NM_144489:exon1:c.124dupT:p.E41fs 7.591E-05 RGS3
chr2 113635064 rs201528381 RABL2A RABL2A:NM_007082:exon5:c.231delG:p.T77fs
RABL2A:NM_013412:exon5:c.231delG:p.T77fs
0.0315 RABL2A
chr3 113658634 rs766218926 KIAA2018 KIAA2018:NM_001009899:exon7:c.3047dupA:p.N1016fs 0.0752 KIAA2018
chr10 113679882 rs10553596 CASP7 CASP7:NM_001267057:exon1:c.128_129del:p.L43fs 0.2927 CASP7
chr2