PMID: 30030262

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals of the rheumatic diseases
R Carapito, C Carapito, A Morlon, N Paul, AS Vaca Jacome, G Alsaleh, V Rolli, O Tahar, I Aouadi, M Rompais, F Delalande, A Pichot, P Georgel, L Messer, J Sibilia, S Cianferani, A Van Dorsselaer, S Bahram
2018-11

1743 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-9060541-C-T MUC16 c.26905G>A p.Val8969Met Missense 3/84 -
12-51237816-G-A TMPRSS12 c.379G>A p.Ala127Thr Missense 2/5 -
12-11339020-T-C TAS2R42 c.524A>G p.Tyr175Cys Missense 1/1 -
12-28605426-G-A CCDC91 c.940G>A p.Val314Met Missense 11/13 -
2-224849641-A-T SERPINE2 c.712T>A p.Trp238Arg Missense 5/9 -
2-233244930-G-T ALPP c.692G>T p.Arg231Leu Missense 6/11 -
4-110862297-A-C EGF c.323A>C p.Gln108Pro Missense 2/23 -
7-116340216-TC-GG MET c.1078_1079delTCinsGG p.Ser360Gly Missense 2/21 -
19-14991963-C-G OR7A17 c.205G>C p.Ala69Pro Missense 1/1 -
15-42439444-C-T PLA2G4F c.1297G>A p.Ala433Thr Missense 13/20 -
12-110034320-G-A MVK c.1129G>A p.Val377Ile Missense 11/11 -
16-11836572-TCC-AGC TXNDC11 c.13_15delGGAinsAGC p.Gly5Ser Missense 1/12 -
17-15531942-C-G TRIM16 c.1682G>C p.Gly561Ala Missense 9/9 -
17-15531942-C-A TRIM16 c.1682G>T p.Gly561Val Missense 9/9 -
4-38830350-A-G TLR6 c.745T>C p.Ser249Pro Missense 2/2 -
12-129100757-C-G TMEM132C c.1182C>G p.Ser394Arg Missense 4/9 -
12-129100757-C-A TMEM132C c.1182C>A p.Ser394Arg Missense 4/9 -
4-130032843-A-G C4orf33 c.497A>G p.His166Arg Missense 6/6 -
2-111415148-C-T BUB1 c.1591G>A p.Glu531Lys Missense 14/25 -
10-135010568-G-A KNDC1 c.1741G>A p.Gly581Ser Missense 11/30 -
2-224866454-G-A SERPINE2 c.164C>T p.Pro55Leu Missense 2/9 -
6-132014658-T-C ENPP3 c.1306T>C p.Phe436Leu Missense 15/25 -
16-5139186-G-C EEF2KMT c.814C>G p.His272Asp Missense 7/8 -
14-105243076-CCG-TGT AKT1 c.205_207delCGGinsTGT p.Arg69Cys Missense 4/14 -
7-56088811-T-C PSPH c.95A>G p.Asp32Gly Missense 4/8 -
2-170053505-C-A LRP2 c.8614G>T p.Ala2872Ser Missense 46/79 -
2-170053505-C-T LRP2 c.8614G>A p.Ala2872Thr Missense 46/79 -
17-15510888-G-A CDRT1 c.1232C>T p.Thr411Met Missense 6/12 -
6-131973721-CC-TG ENPP3 c.317_318delCCinsTG p.Thr106Met Missense 4/25 -
2-29416481-T-C ALK c.4472A>G p.Lys1491Arg Missense 29/29 -
1-200973526-C-T KIF21B c.958G>A p.Val320Ile Missense 7/35 -
19-8808942-A-T ACTL9 c.110T>A p.Phe37Tyr Missense 1/1 -
19-8808942-A-G ACTL9 c.110T>C p.Phe37Ser Missense 1/1 -
2-224849641-A-G SERPINE2 c.712T>C p.Trp238Arg Missense 5/9 -
5-52781039-C-A FST c.934C>A p.His312Asn Missense 5/6 -
12-52965173-T-G KRT74 c.813A>C p.Glu271Asp Missense 4/9 -
12-52965173-T-A KRT74 c.813A>T p.Glu271Asp Missense 4/9 -
1-152733472-C-T KPRP c.1408C>T p.Pro470Ser Missense 2/2 -
12-47186770-C-T SLC38A4 c.85G>A p.Gly29Arg Missense 2/16 -
16-11782273-G-C TXNDC11 c.1929C>G p.Leu643Leu Synonymous 9/12 -
16-11782273-G-A TXNDC11 c.1929C>T p.Leu643Leu Synonymous 9/12 -
16-11782273-G-T TXNDC11 c.1929C>A p.Leu643Leu Synonymous 9/12 -
11-66824435-T-C RHOD c.62T>C p.Val21Ala Missense 1/5 -
15-40707611-C-T IVD c.809C>T p.Ala270Val Missense 8/11 -
4-110864447-C-T EGF c.365C>T p.Ala122Val Missense 3/23 -
19-37441980-A-G ZNF568 c.1925A>G p.Gln642Arg Missense 7/7 -
1-149858072-A-G HIST2H2BE c.119T>C p.Ile40Thr Missense 1/1 -
19-37441980-A-T ZNF568 c.1925A>T p.Gln642Leu Missense 7/7 -
2-233244930-G-C ALPP c.692G>C p.Arg231Pro Missense 6/11 -
2-233244930-G-A ALPP c.692G>A p.Arg231His Missense 6/11 -
15-75498744-G-C C15orf39 c.355G>C p.Ala119Pro Missense 2/3 -
7-116340012-A-G MET c.874A>G p.Met292Val Missense 2/21 -
7-48315360-A-G ABCA13 c.6097A>G p.Asn2033Asp Missense 17/62 -
1-210577901-T-C HHAT c.562T>C p.Cys188Arg Missense 6/12 -
10-90429652-A-G LIPF c.382A>G p.Thr128Ala Missense 5/10 -
2-227661003-C-G IRS1 c.2452G>C p.Gly818Arg Missense 1/2 -
11-76912636-A-T MYO7A c.4996A>T p.Ser1666Cys Missense 36/49 -
14-105239328-G-C AKT1 c.1059C>G p.Asp353Glu Missense 11/14 -
19-10402938-G-A ICAM5 c.901G>A p.Val301Ile Missense 4/11 -
4-95578600-A-G PDLIM5 c.1160A>G p.Gln387Arg Missense 11/13 -
X-38268220-A-C OTC c.809A>C p.Gln270Pro Missense 8/10 -
X-38268220-A-G OTC c.809A>G p.Gln270Arg Missense 8/10 -
20-48600631-T-C SNAI1 c.353T>C p.Val118Ala Missense 2/3 -
11-19213986-A-G CSRP3 c.10T>C p.Trp4Arg Missense 2/6 -
17-39464487-G-C KRTAP16-1 c.1019C>G p.Pro340Arg Missense 1/1 -
17-39464487-G-T KRTAP16-1 c.1019C>A p.Pro340His Missense 1/1 -
19-14991963-C-A OR7A17 c.205G>T p.Ala69Ser Missense 1/1 -
2-218683139-G-A TNS1 c.3604C>T p.Pro1202Ser Missense 24/33 -
16-11815457-A-T TXNDC11 c.769T>A p.Ser257Thr Missense 5/12 -
3-187089031-C-A RTP4 c.611C>A p.Ala204Asp Missense 2/2 -
19-9062415-T-G MUC16 c.25031A>C p.Asp8344Ala Missense 3/84 -
7-116371752-G-A MET c.1231G>A p.Ala411Thr Missense 3/21 -
3-10276163-T-A IRAK2 c.1293T>A p.Asp431Glu Missense 11/13 -
16-11785598-T-G TXNDC11 c.1448A>C p.Tyr483Ser Missense 8/12 -
2-234750831-T-C HJURP c.595A>G p.Arg199Gly Missense 8/9 -
6-132014660-C-A ENPP3 c.1308C>A p.Phe436Leu Missense 15/25 -
19-36340009-G-A NPHS1 c.881C>T p.Thr294Ile Missense 8/29 -
21-40670460-G-T BRWD1 c.247C>A p.Gln83Lys Missense 5/41 -
21-40670460-G-C BRWD1 c.247C>G p.Gln83Glu Missense 5/41 -
18-77805949-A-C RBFA c.826A>C p.Lys276Gln Missense 7/7 -
4-110908986-GGA-AGC EGF c.2578_2580delGGAinsAGC p.Gly860Ser Missense 17/23 -
14-59112732-C-G DACT1 c.1391C>G p.Ala464Gly Missense 4/4 -
6-132067950-G-C ENPP3 c.2482G>C p.Val828Leu Missense 25/25 -
11-5364742-C-T OR51B5 c.13G>A p.Gly5Ser Missense 5/5 -
12-77235768-A-G ZDHHC17 c.1148A>G p.Asn383Ser Missense 11/17 -
1-171176912-T-C FMO2 c.1239T>C p.Asn413Asn Synonymous 8/9 -
1-171176912-T-A FMO2 c.1239T>A p.Asn413Lys Missense 8/9 -
1-171176912-T-G FMO2 c.1239T>G p.Asn413Lys Missense 8/9 -
21-38524272-G-C TTC3 c.2356G>C p.Glu786Gln Missense 26/46 -
19-37677748-T-A ZNF585B c.691A>T p.Ile231Leu Missense 5/5 -
15-43661802-T-C ZSCAN29 c.310A>G p.Arg104Gly Missense 1/5 -
19-37677748-T-C ZNF585B c.691A>G p.Ile231Val Missense 5/5 -
2-197662526-T-A GTF3C3 c.209A>T p.Asn70Ile Missense 2/9 -
2-73679866-T-C ALMS1 c.6215T>C - missense_variant 8/23 -
2-197662526-T-C GTF3C3 c.209A>G p.Asn70Ser Missense 2/9 -
22-45821956-C-T RIBC2 c.801C>T - synonymous_variant 6/8 -
11-4567335-C-G OR52M1 c.915C>G p.Ser305Arg Missense 1/1 -
1-212216454-TC-GG DTL c.172_173delTCinsGG p.Ser58Gly Missense 2/15 -
22-30891294-G-C SEC14L4 c.370C>G p.Arg124Gly Missense 5/12 -
9-115950114-C-A FKBP15 c.1342G>T p.Asp448Tyr Missense 14/28 -
9-115950114-C-T FKBP15 c.1342G>A p.Asp448Asn Missense 14/28 -
5-52779400-GC-AA FST c.344_345delGCinsAA p.Arg115Gln Missense 3/6 -
15-40702928-TC-GG IVD c.307_308delTCinsGG p.Ser103Gly Missense 3/11 -
2-20818764-C-G HS1BP3 c.1162G>C p.Ala388Pro Missense 7/7 -
12-133384864-G-A GOLGA3 c.791C>T p.Pro264Leu Missense 5/24 -
2-191301368-A-G MFSD6 c.613A>G p.Arg205Gly Missense 3/8 -
2-111431704-A-G BUB1 c.184T>C p.Tyr62His Missense 3/25 -
14-77793237-G-A GSTZ1 c.124G>A p.Gly42Arg Missense 3/9 -
10-29581493-A-C LYZL1 c.185A>C - missense_variant 3/5 -
1-228033197-A-T PRSS38 c.610A>T p.Met204Leu Missense 4/5 -
11-66839038-C-T RHOD c.598C>T p.Arg200Trp Missense 5/5 -
22-45821956-C-G RIBC2 c.801C>G - missense_variant 6/8 -
12-49310787-C-A CCDC65 c.505C>A p.His169Asn Missense 4/8 -
10-129899922-T-C MKI67 c.9305A>G p.Glu3102Gly Missense 14/15 -
2-20818764-C-A HS1BP3 c.1162G>T p.Ala388Ser Missense 7/7 -
X-37953620-C-A SYTL5 c.904C>A p.Arg302Ser Missense 8/17 -
4-95539342-G-A PDLIM5 c.781G>A p.Val261Ile Missense 8/13 -
7-116340288-AG-CA MET c.1150_1151delAGinsCA p.Arg384Gln Missense 2/21 -
12-49314994-A-G CCDC65 c.1223A>G p.Tyr408Cys Missense 8/8 -
19-49898404-G-A CCDC155 c.190G>A p.Val64Met Missense 4/20 -
18-50432602-C-A DCC c.601C>A p.Arg201Arg Synonymous 3/29 -
1-228033197-A-G PRSS38 c.610A>G p.Met204Val Missense 4/5 -
3-50645880-C-G CISH c.165G>C p.Glu55Asp Missense 2/3 -
7-139652440-C-T TBXAS1 c.451-727C>T - intron_variant - 5/12
18-47383243-C-T MYO5B c.3962G>A p.Gly1321Glu Missense 30/40 -
7-116339820-T-A MET c.682T>A p.Phe228Ile Missense 2/21 -
2-111423950-C-T BUB1 c.847G>A p.Ala283Thr Missense 9/25 -
6-132006591-C-T ENPP3 c.1208C>T p.Ala403Val Missense 13/25 -
5-148206440-G-A ADRB2 c.46G>A p.Gly16Arg Missense 1/1 -
14-77845379-T-A SAMD15 c.1618T>A p.Phe540Ile Missense 1/3 -
10-6527143-G-A PRKCQ c.989C>T p.Pro330Leu Missense 10/18 -
4-110897331-G-T EGF c.1993G>T p.Val665Leu Missense 13/23 -
3-50645809-T-A CISH c.236A>T p.Glu79Val Missense 2/3 -
17-38640744-C-T TNS4 c.1493G>A p.Ser498Asn Missense 6/13 -
17-38640744-C-A TNS4 c.1493G>T p.Ser498Ile Missense 6/13 -
19-41633980-C-T CYP2F1 c.1469C>T p.Pro490Leu Missense 10/10 -
19-41633980-C-G CYP2F1 c.1469C>G p.Pro490Arg Missense 10/10 -
1-149858071-G-C HIST2H2BE c.120C>G p.Ile40Met Missense 1/1 -
6-32632818-T-G HLA-DQB1 c.136A>C p.Met46Leu Missense 2/5 -
7-116339720-C-A MET c.582C>A p.Asn194Lys Missense 2/21 -
7-116339720-C-G MET c.582C>G p.Asn194Lys Missense 2/21 -
17-26851602-C-T FOXN1 c.205C>T p.Arg69Cys Missense 2/8 -
2-167262353-C-G SCN7A c.4786G>C p.Val1596Leu Missense 25/25 -
5-52781018-G-C FST c.913G>C p.Gly305Arg Missense 5/6 -
8-11995062-G-A USP17L2 c.1208C>T p.Ala403Val Missense 1/1 -
5-52780983-G-A FST c.878G>A p.Ser293Asn Missense 5/6 -
8-6302154-G-A MCPH1 c.911G>A p.Arg304Lys Missense 8/14 -
8-6302154-G-T MCPH1 c.911G>T p.Arg304Ile Missense 8/14 -
1-232144887-A-G DISC1 c.2307+92A>G - IntronicSNV - 11/12
6-55196587-C-T GFRAL c.97C>T p.Arg33Cys Missense 2/9 -
6-43412865-T-C ABCC10 c.2759T>C p.Ile920Thr Missense 12/20 -
16-5097947-A-G C16orf89 c.887T>C p.Leu296Ser Missense 7/8 -
11-5842310-T-G OR52N2 c.745T>G p.Ser249Ala Missense 1/1 -
11-1101078-A-G MUC2 c.14893A>G - missense_variant 43/51 -
1-232144887-A-C DISC1 c.2307+92A>C - IntronicSNV - 11/12
14-105241456-T-A AKT1 c.524A>T p.Tyr175Phe Missense 6/14 -
16-11792086-G-T TXNDC11 c.1002C>A p.His334Gln Missense 7/12 -
16-11781813-G-C TXNDC11 c.2053C>G p.Leu685Val Missense 10/12 -
16-11792086-G-C TXNDC11 c.1002C>G p.His334Gln Missense 7/12 -
4-110865176-TC-CG EGF c.688_689delTCinsCG p.Ser230Arg Missense 4/23 -
17-3493200-C-A TRPV1 c.945G>T p.Met315Ile Missense 6/16 -
7-150217309-C-T GIMAP7 c.247C>T p.Arg83Cys Missense 2/2 -
17-56448297-C-A RNF43 c.350G>T p.Arg117Leu Missense 3/10 -
8-11990195-C-G USP17L7 c.1324G>C p.Glu442Gln Missense 1/1 -
10-129904477-C-T MKI67 c.5627G>A p.Arg1876Gln Missense 13/15 -
8-11990195-C-T USP17L7 c.1324G>A p.Glu442Lys Missense 1/1 -
5-52779982-C-T FST c.580C>T p.Arg194Trp Missense 4/6 -
14-105243082-CC-AT AKT1 c.200_201delGGinsAT p.Arg67His Missense 4/14 -
3-50645325-C-A CISH c.490G>T p.Val164Leu Missense 3/3 -
3-50645325-C-G CISH c.490G>C p.Val164Leu Missense 3/3 -
7-116417488-GC-AG MET c.3305_3306delGCinsAG p.Gly1102Glu Missense 16/21 -
5-52776628-CGC-TGA FST c.7_9delCGCinsTGA p.Arg3* Nonsense 1/6 -
17-10355763-T-C MYH4 c.3318A>G p.Ile1106Met Missense 26/40 -
5-140186937-G-T PCDHA1 c.2394+18668G>T - IntronicSNV - 1/3
11-18956196-C-T MRGPRX1 c.136G>A p.Ala46Thr Missense 1/1 -
10-126686553-G-A CTBP2 c.545C>T p.Thr182Met Missense 6/11 -
17-47039132-T-C GIP c.307A>G p.Ser103Gly Missense 4/6 -
8-21929924-A-C DMTN c.692A>C p.Lys231Thr Missense 9/16 -
17-36997503-T-C C17orf98 c.140A>G p.Gln47Arg Missense 1/3 -
6-152674464-C-A SYNE1 c.11187G>T p.Lys3729Asn Missense 69/146 -
22-42486801-G-C NDUFA6 c.26C>G p.Ser9Cys Missense 1/3 -
6-131971221-G-A ENPP3 c.209G>A p.Arg70Gln Missense 3/25 -
22-32445946-A-G SLC5A1 c.152A>G p.Asn51Ser Missense 2/15 -
22-41551104-T-C EP300 c.3248T>C p.Leu1083Pro Missense 17/31 -
17-79514112-G-C FAAP100 c.1996C>G p.Pro666Ala Missense 5/9 -
6-132058515-A-T ENPP3 c.2110A>T p.Ser704Cys Missense 22/25 -
1-206634429-A-G SRGAP2 c.3424A>G - missense_variant 20/20 -
2-170502401-G-A CCDC173 c.1609C>T p.Pro537Ser Missense 9/9 -
6-131973776-T-A ENPP3 c.372T>A p.Asp124Glu Missense 4/25 -
22-37581383-C-T C1QTNF6 c.164G>A p.Gly55Asp Missense 2/4 -
2-111416045-G-T BUB1 c.1458C>A p.Asp486Glu Missense 13/25 -
8-72987638-G-A TRPA1 c.7C>T p.Arg3Cys Missense 1/27 -
15-74328141-G-A PML c.1710+1270G>A - IntronicSNV - 7/7
1-111854938-G-T CHIA c.-61+598G>T - intron_variant - 3/9
22-41513378-T-A EP300 c.282T>A p.Asn94Lys Missense 2/31 -
2-111430393-CAG-ATC BUB1 c.265_267delCTGinsATC p.Leu89Ile Missense 4/25 -
6-109480562-T-C CEP57L1 c.913T>C p.Trp305Arg Missense 9/11 -
22-39497404-G-C APOBEC3H c.313G>C p.Gly105Arg Missense 3/5 -
1-186316488-C-T TPR c.2879G>A p.Ser960Asn Missense 22/51 -
15-43170793-A-C TTBK2 c.23T>G p.Leu8Arg Missense 2/15 -
12-7170336-G-A C1S c.356G>A p.Arg119His Missense 4/12 -
15-43170793-A-G TTBK2 c.23T>C p.Leu8Pro Missense 2/15 -
8-17396415-G-A SLC7A2 c.82G>A p.Asp28Asn Missense 1/12 -
8-17396415-G-C SLC7A2 c.82G>C p.Asp28His Missense 1/12 -
6-43581935-A-G POLH c.1783A>G p.Met595Val Missense 11/11 -
16-11792031-G-C TXNDC11 c.1057C>G p.Leu353Val Missense 7/12 -
17-1636934-A-G WDR81 c.1450A>G p.Met484Val Missense 8/11 -
4-110901198-G-A EGF c.2124G>A p.Met708Ile Missense 14/23 -
2-206041244-A-G PARD3B c.1867A>G p.Asn623Asp Missense 13/22 -
2-224845099-T-C SERPINE2 c.1004A>G p.His335Arg Missense 7/9 -
20-33874720-C-T FAM83C c.1862G>A p.Arg621Gln Missense 4/4 -
15-90335788-C-T ANPEP c.2255G>A p.Ser752Asn Missense 17/21 -
20-42826350-A-G OSER1 c.221T>C p.Val74Ala Missense 4/4 -
20-1426393-C-A NSFL1C c.868G>T p.Asp290Tyr Missense 8/9 -
19-43857873-G-C CD177 c.7G>C p.Ala3Pro Missense 1/9 -
19-43857873-G-A CD177 c.7G>A p.Ala3Thr Missense 1/9 -
2-26798893-A-T C2orf70 c.198A>T p.Gln66His Missense 2/4 -
15-33357262-A-G FMN1 c.1388T>C p.Leu463Pro Missense 2/17 -
20-1426393-C-T NSFL1C c.868G>A p.Asp290Asn Missense 8/9 -
1-181018236-A-G MR1 c.116A>G p.His39Arg Missense 3/7 -
15-43767774-G-T TP53BP1 c.1074C>A p.Asp358Glu Missense 9/28 -
15-43767774-G-C TP53BP1 c.1074C>G p.Asp358Glu Missense 9/28 -
14-105246461-G-C AKT1 c.139C>G p.Gln47Glu Missense 3/14 -
15-89803950-C-T FANCI c.164C>T p.Pro55Leu Missense 4/37 -
3-50645880-C-A CISH c.165G>T p.Glu55Asp Missense 2/3 -
4-169325233-T-A DDX60L c.3238A>T p.Ser1080Cys Missense 25/38 -
17-3101590-C-T OR1A2 c.778C>T p.Arg260Cys Missense 1/1 -
16-4747343-G-C ANKS3 c.1885C>G p.Arg629Gly Missense 16/18 -
17-1782952-A-G RPA1 c.1051A>G p.Thr351Ala Missense 11/17 -
16-4747343-G-A ANKS3 c.1885C>T p.Arg629Cys Missense 16/18 -
4-99027184-T-C STPG2 c.532A>G p.Ile178Val Missense 5/11 -
7-48506642-A-G ABCA13 c.12905A>G p.Gln4302Arg Missense 44/62 -
1-214830617-A-G CENPF c.8827A>G p.Arg2943Gly Missense 18/20 -
20-43851108-C-T SEMG2 c.835C>T p.His279Tyr Missense 2/3 -
1-214830617-A-T CENPF c.8827A>T p.Arg2943* Nonsense 18/20 -
17-39579112-G-A KRT37 c.650C>T p.Ala217Val Missense 3/7 -
15-77176158-T-C SCAPER c.1A>G p.Met1Val Missense 2/32 -
4-95506773-C-G PDLIM5 c.441C>G p.His147Gln Missense 6/13 -
4-74310763-A-G AFP c.767A>G p.Gln256Arg Missense 7/15 -
10-26463130-C-A MYO3A c.3937C>A p.Arg1313Ser Missense 30/35 -
12-66725160-C-T HELB c.2897C>T p.Pro966Leu Missense 12/14 -
19-8183871-G-A FBN3 c.3247C>T p.Arg1083Trp Missense 26/64 -
10-26463130-C-T MYO3A c.3937C>T p.Arg1313Cys Missense 30/35 -
4-110834592-C-G EGF c.101C>G p.Ala34Gly Missense 1/23 -
7-151859683-G-A KMT2C c.10979C>T p.Ser3660Leu Missense 43/59 -
19-15131330-G-A CCDC105 c.733G>A p.Val245Met Missense 3/7 -
6-83667045-C-T UBE3D c.1135G>A p.Val379Met Missense 9/10 -
15-45661678-T-A GATM c.330A>T p.Gln110His Missense 3/9 -
6-90347511-T-C LYRM2 c.136A>G p.Lys46Glu Missense 2/3 -
7-116339584-A-C MET c.446A>C p.Asn149Thr Missense 2/21 -
15-45661678-T-G GATM c.330A>C p.Gln110His Missense 3/9 -
4-40103767-G-T N4BP2 c.302G>T p.Ser101Ile Missense 4/18 -
7-42088222-T-C GLI3 c.547A>G p.Thr183Ala Missense 5/15 -
4-40103767-G-A N4BP2 c.302G>A p.Ser101Asn Missense 4/18 -
18-19154143-G-C ESCO1 c.662C>G p.Thr221Arg Missense 4/12 -
19-9083457-C-A MUC16 c.8358G>T p.Met2786Ile Missense 1/84 -
X-125299467-G-T DCAF12L2 c.441C>A p.His147Gln Missense 1/1 -
10-129903016-T-C MKI67 c.7088A>G p.Asn2363Ser Missense 13/15 -
2-160885442-T-C PLA2R1 c.874A>G p.Met292Val Missense 5/27 -
2-224863012-T-G SERPINE2 c.307A>C p.Lys103Gln Missense 3/9 -
5-52776634-AG-CA FST c.13_14delAGinsCA p.Arg5Gln Missense 1/6 -
18-6985270-C-T LAMA1 c.5626G>A p.Ala1876Thr Missense 39/63 -
10-99350017-G-C C10orf62 c.363G>C p.Glu121Asp Missense 1/1 -
8-105361354-G-C DCSTAMP c.574G>C p.Glu192Gln Missense 2/4 -
12-7080187-C-G EMG1 c.101C>G p.Ala34Gly Missense 1/7 -
6-32632688-T-G HLA-DQB1 c.266A>C p.Asp89Ala Missense 2/5 -
17-7578392-C-T TP53 c.538G>A p.Glu180Lys Missense 5/11 -
6-33037424-T-G HLA-DPA1 c.340A>C p.Thr114Pro Missense 2/5 -
2-196602773-G-A DNAH7 c.11947C>T p.Arg3983Trp Missense 65/65 -
1-228402121-A-G OBSCN c.1505A>G p.Gln502Arg Missense 4/81 -
5-140564263-C-T PCDHB16 c.2129C>T p.Ala710Val Missense 1/1 -
2-224862931-T-C SERPINE2 c.388A>G p.Asn130Asp Missense 3/9 -
2-43625184-T-C THADA c.4153A>G p.Thr1385Ala Missense 29/38 -
18-6985270-C-G LAMA1 c.5626G>C p.Ala1876Pro Missense 39/63 -
14-105258935-C-T AKT1 c.46G>A p.Gly16Arg Missense 2/14 -
7-134216684-C-A AKR1B10 c.259C>A p.Pro87Thr Missense 3/10 -
7-134216684-C-G AKR1B10 c.259C>G p.Pro87Ala Missense 3/10 -
7-134216684-C-T AKR1B10 c.259C>T p.Pro87Ser Missense 3/10 -
2-179605991-G-A TTN c.10361-2904C>T - IntronicSNV - 45/311
17-39458893-G-A KRTAP29-1 c.211C>T p.Arg71Cys Missense 1/1 -
4-110895878-A-T EGF c.1744A>T p.Ser582Cys Missense 12/23 -
15-99670518-T-C SYNM c.1950T>C - synonymous_variant 5/5 -
18-9887857-G-A TXNDC2 c.1180G>A p.Ala394Thr Missense 2/2 -
19-5843784-A-C FUT3 c.1067T>G p.Ile356Arg Missense 3/3 -
1-203696548-C-T ATP2B4 c.3158C>T p.Ser1053Phe Missense 20/22 -
17-7577535-C-A TP53 c.746G>T p.Arg249Met Missense 7/11 -
8-105367121-A-G DCSTAMP c.1046A>G p.Asp349Gly Missense 3/4 -
5-167835539-C-T WWC1 c.748C>T p.Arg250Cys Missense 7/23 -
4-1165748-T-A SPON2 c.112A>T p.Arg38* Nonsense 3/7 -
5-149003627-C-T ARHGEF37 c.1388C>T p.Ala463Val Missense 10/13 -
19-39760191-A-G IFNL2 c.334A>G p.Thr112Ala Missense 4/6 -
14-105930406-G-A MTA1 c.1114G>A p.Val372Ile Missense 13/21 -
4-95497134-TA-AT PDLIM5 c.332_333delTAinsAT p.Leu111His Missense 5/13 -
14-105239328-G-T AKT1 c.1059C>A p.Asp353Glu Missense 11/14 -
16-84256619-C-G KCNG4 c.764G>C p.Cys255Ser Missense 3/3 -
22-30891294-G-A SEC14L4 c.370C>T p.Arg124Cys Missense 5/12 -
4-110865216-A-G EGF c.728A>G p.His243Arg Missense 4/23 -
10-126727569-C-G CTBP2 c.55G>C p.Glu19Gln Missense 3/11 -
17-6704121-C-T TEKT1 c.994G>A p.Val332Ile Missense 7/8 -
12-52946498-C-T KRT71 c.364G>A p.Glu122Lys Missense 1/9 -
3-175473047-T-C NAALADL2 c.2030T>C p.Leu677Ser Missense 13/14 -
10-91487649-A-T KIF20B c.2147A>T p.Asn716Ile Missense 17/33 -
11-66838004-GGA-AGC RHOD c.439_441delGGAinsAGC p.Gly147Ser Missense 4/5 -
7-116380016-CG-AA MET c.1405_1406delCGinsAA p.Arg469Lys Missense 4/21 -
6-131973776-T-G ENPP3 c.372T>G p.Asp124Glu Missense 4/25 -
4-110895951-A-G EGF c.1817A>G p.His606Arg Missense 12/23 -
4-110890253-AG-CA EGF c.1702_1703delAGinsCA p.Arg568Gln Missense 11/23 -
1-175087729-T-C TNN c.2419T>C p.Trp807Arg Missense 11/19 -
15-40308859-G-T EIF2AK4 c.3916G>T p.Gly1306Cys Missense 28/39 -
4-1087531-T-C RNF212 c.247-2905A>G - IntronicSNV - 3/9
12-48526712-G-A PFKM c.299G>A p.Arg100Gln Missense 5/23 -
2-224863057-C-T SERPINE2 c.262G>A p.Val88Ile Missense 3/9 -
18-6993673-T-C LAMA1 c.4975A>G p.Ile1659Val Missense 35/63 -
19-14758168-G-A ADGRE3 c.707C>T p.Ala236Val Missense 8/16 -
19-8138054-C-A FBN3 c.7830G>T p.Glu2610Asp Missense 62/64 -
5-52779429-A-G FST c.373A>G p.Ile125Val Missense 3/6 -
10-126692049-T-C CTBP2 c.71A>G p.Gln24Arg Missense 4/11 -
2-224849602-T-C SERPINE2 c.751A>G p.Ile251Val Missense 5/9 -
1-183184663-G-A LAMC2 c.344G>A p.Arg115Gln Missense 3/23 -
1-183094547-T-C LAMC1 c.2663T>C p.Leu888Pro Missense 15/28 -
4-110915939-AG-CA EGF c.2785_2786delAGinsCA p.Arg929Gln Missense 19/23 -
15-40308859-G-A EIF2AK4 c.3916G>A p.Gly1306Ser Missense 28/39 -
6-26388405-G-A BTN2A2 c.607G>A p.Gly203Ser Missense 4/8 -
7-116340057-AGA-TGT MET c.919_921delAGAinsTGT p.Arg307Cys Missense 2/21 -
10-126691598-C-T CTBP2 c.289G>A p.Ala97Thr Missense 5/11 -
15-83674432-G-A C15orf40 c.379C>T p.Arg127Cys Missense 4/4 -
1-155735012-T-C GON4L c.4252A>G p.Met1418Val Missense 21/21 -
9-134334588-A-G PRRC2B c.1249A>G p.Met417Val Missense 10/31 -
4-55139771-T-C PDGFRA c.1432T>C p.Ser478Pro Missense 10/23 -
19-33600764-T-C GPATCH1 c.1427T>C p.Leu476Pro Missense 11/20 -
11-5602615-A-T OR52B6 c.509A>T p.His170Leu Missense 1/1 -
3-178968660-T-C KCNMB3 c.125A>G p.Asp42Gly Missense 2/4 -
11-5602615-A-G OR52B6 c.509A>G p.His170Arg Missense 1/1 -
7-156469179-C-T RNF32 c.919C>T p.Arg307Cys Missense 9/9 -
3-50645091-G-C CISH c.724C>G p.Pro242Ala Missense 3/3 -
22-50658424-T-C TUBGCP6 c.4129A>G p.Thr1377Ala Missense 17/25 -
3-178968660-T-A KCNMB3 c.125A>T p.Asp42Val Missense 2/4 -
18-3457606-C-T TGIF1 c.874C>T p.Pro292Ser Missense 3/3 -
16-11836566-GC-AA TXNDC11 c.20_21delGCinsAA p.Arg7Gln Missense 1/12 -
5-140626566-A-C PCDHB15 c.1420A>C p.Ser474Arg Missense 1/1 -
21-31587793-A-G CLDN8 c.451T>C p.Ser151Pro Missense 1/1 -
17-56584508-T-C MTMR4 c.838A>G p.Ser280Gly Missense 9/19 -
16-72130103-C-G DHX38 c.47C>G p.Thr16Ser Missense 2/27 -
19-10742170-A-G SLC44A2 c.455A>G p.Gln152Arg Missense 7/22 -
11-5462255-C-G OR51I1 c.490G>C p.Val164Leu Missense 1/1 -
4-95539285-C-T PDLIM5 c.724C>T p.Pro242Ser Missense 8/13 -
4-74318153-T-A AFP c.1464T>A p.His488Gln Missense 12/15 -
4-74318153-T-G AFP c.1464T>G p.His488Gln Missense 12/15 -
4-71114956-G-C CSN3 c.329G>C p.Arg110Pro Missense 4/5 -
12-7281317-C-T RBP5 c.55G>A p.Asp19Asn Missense 1/4 -
19-11916914-A-G ZNF491 c.146A>G p.Tyr49Cys Missense 3/3 -
15-65157482-C-G PLEKHO2 c.868C>G p.Pro290Ala Missense 6/6 -
8-125463250-T-C TRMT12 c.82T>C p.Trp28Arg Missense 1/1 -
19-10670184-C-G KRI1 c.1045G>C - missense_variant 12/19 -
5-140567264-G-T PCDHB9 c.372G>T p.Arg124Ser Missense 1/2 -
2-224840597-A-G SERPINE2 c.1184T>C p.Ile395Thr Missense 9/9 -
7-51096974-C-A COBL c.1819G>T p.Val607Phe Missense 10/13 -
15-75503399-G-A C15orf39 c.3086G>A p.Arg1029Lys Missense 3/3 -
7-116339767-C-T MET c.629C>T p.Pro210Leu Missense 2/21 -
15-65157482-C-T PLEKHO2 c.868C>T p.Pro290Ser Missense 6/6 -
20-25484623-G-A NINL c.826C>T p.Arg276Trp Missense 7/24 -
17-36478450-G-T MRPL45 c.893G>T p.Gly298Val Missense 8/8 -
5-140567264-G-A PCDHB9 c.372G>A p.Arg124Arg Synonymous 1/2 -
4-71114956-G-T CSN3 c.329G>T p.Arg110Leu Missense 4/5 -
22-41537169-C-A EP300 c.1996C>A p.Pro666Thr Missense 10/31 -
8-23167353-T-G LOXL2 c.1708A>C p.Met570Leu Missense 10/14 -
1-115168600-A-T DENND2C c.6T>A p.Asp2Glu Missense 2/18 -
12-9020489-A-G A2ML1 c.3769A>G p.Met1257Val Missense 30/36 -
16-11836498-GA-GG TXNDC11 c.88_89delTCinsGG p.Ser30Gly Missense 1/12 -
4-95561535-A-G PDLIM5 c.890A>G p.Gln297Arg Missense 9/13 -
12-55863224-C-G OR6C70 c.699G>C p.Lys233Asn Missense 1/1 -
9-113276356-C-G SVEP1 c.995G>C p.Gly332Ala Missense 4/48 -
12-11150046-G-T TAS2R20 c.429C>A p.His143Gln Missense 1/1 -
9-113276356-C-T SVEP1 c.995G>A p.Gly332Asp Missense 4/48 -
8-2005883-C-T MYOM2 c.545C>T p.Thr182Met Missense 5/37 -
1-179504043-C-G AXDND1 c.2977C>G p.Gln993Glu Missense 25/26 -
20-1532595-T-C SIRPD c.163A>G p.Asn55Asp Missense 2/4 -
1-212216347-A-C DTL c.65A>C p.Gln22Pro Missense 2/15 -
5-140562739-G-A PCDHB16 c.605G>A p.Arg202Gln Missense 1/1 -
22-41564554-G-A EP300 c.3976G>A p.Val1326Ile Missense 24/31 -
20-1532595-T-A SIRPD c.163A>T p.Asn55Tyr Missense 2/4 -
10-55755491-C-T PCDH15 c.2786G>A p.Arg929Gln Missense 21/33 -
4-155713-A-G ZNF718 c.1040A>G - missense_variant 6/6 -
4-95578682-A-C PDLIM5 c.1242A>C p.Glu414Asp Missense 11/13 -
13-52971687-A-G THSD1 c.701T>C p.Ile234Thr Missense 3/5 -
15-85186837-T-C WDR73 c.1001A>G p.Asp334Gly Missense 8/8 -
15-85186837-T-A WDR73 c.1001A>T p.Asp334Val Missense 8/8 -
17-15554538-C-T TRIM16 c.386G>A p.Arg129Gln Missense 4/9 -
1-111861841-A-G CHIA c.532A>G p.Ile178Val Missense 8/10 -
22-41533710-C-T EP300 c.1676C>T p.Ala559Val Missense 8/31 -
17-7573978-A-G TP53 c.1049T>C p.Leu350Pro Missense 10/11 -
20-23805953-C-A CST2 c.236G>T p.Gly79Val Missense 2/3 -
1-210415570-C-T SERTAD4 c.959C>T p.Thr320Ile Missense 4/4 -
11-66839026-CGC-AAG RHOD c.586_588delCGCinsAAG p.Arg196Lys Missense 5/5 -
22-32200849-C-T DEPDC5 c.1165C>T p.Arg389Cys Missense 17/42 -
8-133984058-C-T TG c.5995C>T p.Arg1999Trp Missense 33/48 -
2-220113159-C-T STK16 c.796C>T p.Arg266Trp Missense 8/8 -
4-110773067-G-A LRIT3 c.524G>A p.Ser175Asn Missense 2/4 -
12-11339020-T-A TAS2R42 c.524A>T p.Tyr175Phe Missense 1/1 -
4-99049593-A-G STPG2 c.373T>C p.Tyr125His Missense 3/11 -
1-212216425-T-C DTL c.143T>C p.Val48Ala Missense 2/15 -
10-55955444-T-G PCDH15 c.1304A>C p.Asp435Ala Missense 11/33 -
15-40705211-T-C IVD c.628T>C p.Ser210Pro Missense 6/11 -
20-23805953-C-T CST2 c.236G>A p.Gly79Asp Missense 2/3 -
10-129901570-C-T MKI67 c.8534G>A p.Arg2845His Missense 13/15 -
17-72584764-C-T CD300LD c.265G>A p.Val89Met Missense 2/4 -
10-104638723-T-A AS3MT c.860T>A p.Met287Lys Missense 9/11 -
2-187693155-A-T ZSWIM2 c.1458T>A p.Asp486Glu Missense 9/9 -
12-129566566-T-C TMEM132D c.1661A>G p.Asp554Gly Missense 7/9 -
16-76486581-A-G CNTNAP4 c.1245A>G - synonymous_variant 9/25 -
10-91468925-C-G KIF20B c.149C>G p.Ala50Gly Missense 3/33 -
4-71114956-G-A CSN3 c.329G>A p.Arg110His Missense 4/5 -
11-5602275-A-G OR52B6 c.169A>G p.Thr57Ala Missense 1/1 -
17-48595988-G-C MYCBPAP c.555G>C - missense_variant 5/19 -
17-48595988-G-T MYCBPAP c.555G>T - missense_variant 5/19 -
2-98277090-T-G ACTR1B c.133A>C p.Met45Leu Missense 3/11 -
6-32632782-G-C HLA-DQB1 c.172C>G p.Leu58Val Missense 2/5 -
17-27889986-T-A ABHD15 c.1000A>T p.Thr334Ser Missense 2/2 -
6-112397201-G-A TUBE1 c.751C>T p.His251Tyr Missense 8/12 -
11-1094761-C-A MUC2 c.13265C>A - missense_variant 33/51 -
2-165578602-C-T COBLL1 c.979G>A p.Val327Met Missense 6/14 -
2-201355106-G-A KCTD18 c.998C>T p.Ala333Val Missense 7/7 -
14-105239690-G-T AKT1 c.855C>A p.Asp285Glu Missense 10/14 -
14-105239690-G-C AKT1 c.855C>G p.Asp285Glu Missense 10/14 -
2-38298203-C-G CYP1B1 c.1294G>C p.Val432Leu Missense 3/3 -
11-4567335-C-A OR52M1 c.915C>A p.Ser305Arg Missense 1/1 -
10-16919052-T-C CUBN c.8950A>G p.Ile2984Val Missense 57/67 -
22-43206950-A-C ARFGAP3 c.1065T>G p.Ser355Arg Missense 12/16 -
20-1546805-G-A SIRPB1 c.1193C>T p.Ala398Val Missense 5/6 -
1-179989742-G-C CEP350 c.2833G>C p.Glu945Gln Missense 12/38 -
17-45759767-C-T KPNB1 c.-1-3C>T - IntronicSNV - 21/21
15-34159941-T-A AVEN c.728A>T p.Glu243Val Missense 5/6 -
19-8808900-A-T ACTL9 c.152T>A p.Val51Glu Missense 1/1 -
15-34159941-T-G AVEN c.728A>C p.Glu243Ala Missense 5/6 -
3-13399786-G-A NUP210 c.2264C>T p.Ala755Val Missense 16/40 -
8-99101507-G-A ERICH5 c.262G>A p.Val88Ile Missense 2/3 -
4-95583633-A-C PDLIM5 c.1319A>C p.Asp440Ala Missense 12/13 -
2-220354108-A-G SPEG c.8368A>G p.Arg2790Gly Missense 36/41 -
20-5933108-C-A MCM8 c.187C>A p.Gln63Lys Missense 3/19 -
10-129901393-T-C MKI67 c.8711A>G p.Gln2904Arg Missense 13/15 -
10-50678369-T-C ERCC6 c.3637A>G p.Arg1213Gly Missense 18/21 -
10-126678218-T-C CTBP2 c.1207A>G p.Met403Val Missense 11/11 -
2-180810358-C-T CWC22 c.2225G>A p.Arg742Lys Missense 20/20 -
16-11824516-A-T TXNDC11 c.684T>A p.Phe228Leu Missense 4/12 -
8-25364331-G-A CDCA2 c.2149G>A p.Val717Ile Missense 15/15 -
17-43922409-A-G SPPL2C c.137A>G p.Tyr46Cys Missense 1/1 -
6-29364615-G-T OR12D2 c.139G>T p.Val47Phe Missense 1/1 -
10-126683162-C-T CTBP2 c.656G>A p.Arg219Gln Missense 7/11 -
11-130784694-C-T SNX19 c.1141G>A p.Gly381Ser Missense 1/11 -
19-9069892-A-C MUC16 c.17554T>G p.Phe5852Val Missense 3/84 -
20-3128578-A-C UBOX5 c.-42+11834T>G - intron_variant - 1/4
6-131996256-G-A ENPP3 c.799G>A p.Ala267Thr Missense 9/25 -
5-180218668-A-G MGAT1 c.1304T>C p.Leu435Pro Missense 3/3 -
17-46928952-G-A CALCOCO2 c.664G>A p.Glu222Lys Missense 7/13 -
2-214727221-A-C SPAG16 c.1083A>C p.Gln361His Missense 11/16 -
17-79514112-G-A FAAP100 c.1996C>T p.Pro666Ser Missense 5/9 -
5-140563579-C-T PCDHB16 c.1445C>T p.Thr482Ile Missense 1/1 -
20-1546911-C-G SIRPB1 c.1087G>C p.Ala363Pro Missense 5/6 -
2-111416014-C-T BUB1 c.1489G>A p.Glu497Lys Missense 13/25 -
6-132006621-A-G ENPP3 c.1238A>G p.His413Arg Missense 13/25 -
6-32917544-C-T HLA-DMA c.496G>A p.Val166Ile Missense 3/5 -
9-91994433-C-T SEMA4D c.1775G>A p.Gly592Asp Missense 18/18 -
19-9087758-G-A MUC16 c.4057C>T p.His1353Tyr Missense 1/84 -
10-97023630-T-C PDLIM1 c.524A>G p.Asn175Ser Missense 4/7 -
12-11244725-C-G TAS2R43 c.104G>C p.Trp35Ser Missense 1/1 -
11-66839042-G-A RHOD c.602G>A p.Arg201Gln Missense 5/5 -
2-20818764-C-T HS1BP3 c.1162G>A p.Ala388Thr Missense 7/7 -
6-33037522-T-C HLA-DPA1 c.242A>G p.Gln81Arg Missense 2/5 -
1-207760773-C-T CR1 c.4223C>T p.Thr1408Met Missense 26/39 -
12-56092668-C-T ITGA7 c.824G>A p.Arg275His Missense 6/25 -
12-56092668-C-G ITGA7 c.824G>C p.Arg275Pro Missense 6/25 -
X-47842356-G-T ZNF182 c.282C>A p.Asn94Lys Missense 6/7 -
5-52776704-A-G FST c.83A>G p.Gln28Arg Missense 1/6 -
20-30064331-A-C REM1 c.83A>C p.His28Pro Missense 2/5 -
2-1499927-A-G TPO c.2173A>G p.Thr725Ala Missense 12/17 -
2-1499927-A-C TPO c.2173A>C p.Thr725Pro Missense 12/17 -
6-132004248-CTG-TTT ENPP3 c.1066_1068delCTGinsTTT p.Leu356Phe Missense 12/25 -
9-135139901-T-C SETX c.7759A>G p.Ile2587Val Missense 26/26 -
11-46886077-A-T LRP4 c.5165T>A p.Leu1722His Missense 36/38 -
22-41489025-T-C EP300 c.17T>C p.Val6Ala Missense 1/31 -
10-50678717-T-C ERCC6 c.3289A>G p.Met1097Val Missense 18/21 -
6-32634369-C-G HLA-DQB1 c.16G>C p.Ala6Pro Missense 1/5 -
12-48884610-C-T C12orf54 c.184C>T p.Arg62Trp Missense 6/9 -
7-57529392-A-C ZNF716 c.1225A>C p.Lys409Gln Missense 4/4 -
10-129913960-A-T MKI67 c.712T>A p.Trp238Arg Missense 7/15 -
15-50226359-G-T ATP8B4 c.1308C>A p.Phe436Leu Missense 15/28 -
2-111435556-T-C BUB1 c.17A>G p.Asn6Ser Missense 1/25 -
7-116397543-A-G MET c.1915A>G p.Ile639Val Missense 7/21 -
2-111431759-T-C BUB1 c.129A>G p.Glu43Glu Synonymous 3/25 -
16-11785802-G-A TXNDC11 c.1244C>T p.Pro415Leu Missense 8/12 -
16-89167094-T-C ACSF3 c.5T>C p.Leu2Pro Missense 3/11 -
22-39917515-A-T ATF4 c.65A>T p.Gln22Leu Missense 1/2 -
4-74309079-A-C AFP c.631A>C p.Lys211Gln Missense 6/15 -
12-60173356-A-G SLC16A7 c.1333A>G p.Thr445Ala Missense 5/5 -
16-4935061-C-T PPL c.3595G>A p.Glu1199Lys Missense 22/22 -
16-4935061-C-G PPL c.3595G>C p.Glu1199Gln Missense 22/22 -
7-51096974-C-T COBL c.1819G>A p.Val607Ile Missense 10/13 -
22-36587486-A-G APOL4 c.690T>C - synonymous_variant 6/6 -
16-11785553-GA-AA TXNDC11 c.1492_1493delTCinsAA p.Ser498Asn Missense 8/12 -
17-39503163-G-A KRT33A c.809C>T p.Ala270Val Missense 5/7 -
13-45563464-G-C NUFIP1 c.108C>G p.Ser36Arg Missense 1/10 -
6-32552127-C-T HLA-DRB1 c.129G>A p.Glu43Glu Synonymous 2/6 -
9-136029645-G-T GBGT1 c.363C>A p.Tyr121* Nonsense 7/7 -
2-111425380-G-A BUB1 c.614C>T p.Ser205Leu Missense 7/25 -
17-46262171-C-T SKAP1 c.481G>A p.Gly161Ser Missense 7/13 -
6-33169392-G-C SLC39A7 c.370G>C p.Gly124Arg Missense 1/7 -
5-52780973-A-T FST c.868A>T p.Thr290Ser Missense 5/6 -
6-32632688-T-A HLA-DQB1 c.266A>T p.Asp89Val Missense 2/5 -
4-264941-A-G ZNF732 c.1705T>C p.Trp569Arg Missense 4/4 -
16-11824629-A-C TXNDC11 c.571T>G p.Phe191Val Missense 4/12 -
2-98853173-G-A VWA3B c.2653G>A p.Val885Met Missense 19/28 -
11-5842356-A-G OR52N2 c.791A>G p.His264Arg Missense 1/1 -
11-5842356-A-T OR52N2 c.791A>T p.His264Leu Missense 1/1 -
5-149006726-A-T ARHGEF37 c.1552A>T p.Ser518Cys Missense 11/13 -
7-116395428-C-T MET c.1721C>T p.Pro574Leu Missense 6/21 -
14-105239898-C-T AKT1 c.722G>A p.Arg241Gln Missense 9/14 -
6-33048457-C-G HLA-DPB1 c.109C>G p.Leu37Val Missense 2/6 -
14-105243078-G-C AKT1 c.205C>G p.Arg69Gly Missense 4/14 -
1-115168600-A-C DENND2C c.6T>G p.Asp2Glu Missense 2/18 -
12-54734289-A-G COPZ1 c.19-42A>G - IntronicSNV - 1/8
11-111896251-G-C DLAT c.55G>C p.Glu19Gln Missense 1/14 -
5-140183058-G-A PCDHA1 c.2394+14789G>A - IntronicSNV - 1/3
17-39464736-C-G KRTAP16-1 c.770G>C p.Ser257Thr Missense 1/1 -
19-17025292-G-A CPAMD8 c.3803C>T - missense_variant 29/42 -
12-9020489-A-C A2ML1 c.3769A>C p.Met1257Leu Missense 30/36 -
9-91994101-G-A SEMA4D c.2107C>T p.Pro703Ser Missense 18/18 -
2-33246146-G-A LTBP1 c.736G>A p.Glu246Lys Missense 3/34 -
17-8046772-C-G PER1 c.2884G>C p.Ala962Pro Missense 19/23 -
17-33680811-C-A SLFN11 c.1466G>T p.Arg489Leu Missense 4/5 -
7-156469133-C-G RNF32 c.873C>G p.His291Gln Missense 9/9 -
3-50645541-C-T CISH c.274G>A p.Ala92Thr Missense 3/3 -
19-9085643-A-G MUC16 c.6172T>C p.Ser2058Pro Missense 1/84 -
4-110834496-T-C EGF c.5T>C p.Leu2Pro Missense 1/23 -
22-24034288-A-G RGL4 c.71A>G p.Gln24Arg Missense 1/11 -
11-66838002-A-C RHOD c.437A>C p.Asn146Thr Missense 4/5 -
17-74287594-G-A QRICH2 c.2716C>T p.His906Tyr Missense 4/19 -
7-48506566-A-G ABCA13 c.12829A>G p.Asn4277Asp Missense 44/62 -
12-9020489-A-T A2ML1 c.3769A>T p.Met1257Leu Missense 30/36 -
X-106396402-A-C NUP62CL c.530T>G p.Ile177Ser Missense 7/9 -
7-156469133-C-T RNF32 c.873C>T p.His291His Synonymous 9/9 -
1-213068595-C-T FLVCR1 c.1631C>T p.Thr544Met Missense 10/10 -
19-9085643-A-T MUC16 c.6172T>A p.Ser2058Thr Missense 1/84 -
12-25311489-G-A CASC1 c.115C>T p.Arg39Cys Missense 4/16 -
11-5602605-G-C OR52B6 c.499G>C p.Ala167Pro Missense 1/1 -
3-113955320-C-T ZNF80 c.602G>A p.Arg201His Missense 1/1 -
11-5602605-G-A OR52B6 c.499G>A p.Ala167Thr Missense 1/1 -
17-3628212-T-C ITGAE c.3085-1174A>G - IntronicSNV - 26/30
4-6594947-A-C MAN2B2 c.728A>C p.Gln243Pro Missense 6/19 -
15-42982340-C-A STARD9 c.8564C>A p.Thr2855Asn Missense 23/33 -
4-6594947-A-G MAN2B2 c.728A>G p.Gln243Arg Missense 6/19 -
17-2966273-G-A OR1D5 c.629C>T p.Pro210Leu Missense 1/1 -
22-41547996-C-G EP300 c.2977C>G p.Gln993Glu Missense 15/31 -
1-161479745-A-C FCGR2A c.497A>C p.His166Pro Missense 4/7 -
2-111431751-A-G BUB1 c.137T>C p.Ile46Thr Missense 3/25 -
17-2966273-G-C OR1D5 c.629C>G p.Pro210Arg Missense 1/1 -
15-70963392-T-C UACA c.1168A>G p.Met390Val Missense 15/19 -
6-29911306-C-G HLA-A c.605C>G p.Thr202Arg Missense 3/8 -
7-64863392-C-T ZNF92 c.365C>T p.Ala122Val Missense 4/4 -
22-42486801-G-A NDUFA6 c.26C>T p.Ser9Phe Missense 1/3 -
17-3627840-G-A ITGAE c.3085-802C>T - IntronicSNV - 26/30
1-169696946-G-A SELE c.1402C>T p.His468Tyr Missense 9/14 -
2-111408255-C-T BUB1 c.2071G>A p.Ala691Thr Missense 18/25 -
1-156314440-T-G TSACC c.104T>G p.Leu35Arg Missense 3/4 -
10-129901726-C-T MKI67 c.8378G>A p.Ser2793Asn Missense 13/15 -
10-129901726-C-G MKI67 c.8378G>C p.Ser2793Thr Missense 13/15 -
14-105246469-T-C AKT1 c.131A>G p.Asp44Gly Missense 3/14 -
4-110897169-AGA-CAT EGF c.1831_1833delAGAinsCAT p.Arg611His Missense 13/23 -
9-136277482-T-C REXO4 c.395-1289A>G - IntronicSNV - 2/5
18-9570320-T-C PPP4R1 c.1357A>G p.Ile453Val Missense 11/20 -
19-15807884-A-G CYP4F12 c.1564A>G p.Ser522Gly Missense 13/13 -
15-59499228-C-G MYO1E c.1531-1544G>C - IntronicSNV - 14/27
1-169511585-T-A F5 c.2743A>T p.Thr915Ser Missense 13/25 -
19-9048320-C-T MUC16 c.33311G>A p.Ser11104Asn Missense 5/84 -
7-116339779-T-C MET c.641T>C p.Ile214Thr Missense 2/21 -
10-99350017-G-T C10orf62 c.363G>T p.Glu121Asp Missense 1/1 -
17-39633354-C-T KRT35 c.1322G>A p.Cys441Tyr Missense 7/8 -
16-11785481-GA-GG TXNDC11 c.1564_1565delTCinsGG p.Ser522Gly Missense 8/12 -
15-59499228-C-T MYO1E c.1531-1544G>A - IntronicSNV - 14/27
6-131962637-CTG-TTT ENPP3 c.121_123delCTGinsTTT p.Leu41Phe Missense 2/25 -
10-16967586-C-G CUBN c.6459G>C p.Leu2153Phe Missense 42/67 -
17-44109474-G-A KANSL1 c.3029C>T p.Pro1010Leu Missense 14/15 -
4-95539288-GTA-ATG PDLIM5 c.727_729delGTAinsATG p.Val243Met Missense 8/13 -
3-186395113-A-G HRG c.1019A>G p.His340Arg Missense 7/7 -
18-50432602-C-G DCC c.601C>G p.Arg201Gly Missense 3/29 -
3-186395113-A-T HRG c.1019A>T p.His340Leu Missense 7/7 -
17-38545824-C-A TOP2A c.4543G>T p.Ala1515Ser Missense 35/35 -
15-42981806-G-A STARD9 c.8030G>A p.Arg2677His Missense 23/33 -
19-21948570-T-C ZNF100 c.22A>G p.Met8Val Missense 2/5 -
22-45728370-G-A FAM118A c.716G>A p.Arg239His Missense 6/9 -
2-231036860-C-T SP110 c.1737G>A p.Met579Ile Missense 16/19 -
22-45728370-G-T FAM118A c.716G>T p.Arg239Leu Missense 6/9 -
19-9085004-T-C MUC16 c.6811A>G p.Thr2271Ala Missense 1/84 -
3-50645523-T-C CISH c.292A>G p.Lys98Glu Missense 3/3 -
16-11773265-A-G TXNDC11 c.2663T>C p.Leu888Pro Missense 12/12 -
16-11785547-CT-TT TXNDC11 c.1498_1499delAGinsTT p.Ser500Phe Missense 8/12 -
1-236176845-C-T NID1 c.2270G>A p.Arg757His Missense 11/20 -
11-76919478-C-T MYO7A c.5860C>T p.Leu1954Phe Missense 43/49 -
20-31673846-A-G BPIFB4 c.802A>G p.Ile268Val Missense 5/16 -
9-139751164-G-A MAMDC4 c.1723G>A p.Val575Ile Missense 15/27 -
15-43724646-T-G TP53BP1 c.3421A>C p.Lys1141Gln Missense 17/28 -
10-5541230-T-G CALML5 c.172A>C p.Ser58Arg Missense 1/1 -
10-5541230-T-A CALML5 c.172A>T p.Ser58Cys Missense 1/1 -
10-5541230-T-C CALML5 c.172A>G p.Ser58Gly Missense 1/1 -
20-9547018-C-T PAK5 c.1004G>A p.Arg335Gln Missense 6/11 -
6-132006540-T-C ENPP3 c.1157T>C p.Met386Thr Missense 13/25 -
19-2917689-C-T ZNF57 c.1070C>T p.Thr357Met Missense 4/4 -
11-7847129-G-A OR5P3 c.391C>T p.Leu131Phe Missense 1/1 -
6-33371806-G-A KIFC1 c.656G>A p.Arg219Gln Missense 6/11 -
6-33036853-A-G HLA-DPA1 c.571T>C p.Phe191Leu Missense 3/5 -
6-33036853-A-C HLA-DPA1 c.571T>G p.Phe191Val Missense 3/5 -
19-35612159-C-T FXYD3 c.97+10C>T - IntronicSNV - 6/8
11-7847129-G-C OR5P3 c.391C>G p.Leu131Val Missense 1/1 -
15-24921649-T-C NPAP1 c.635T>C p.Val212Ala Missense 1/1 -
19-51841417-C-T VSIG10L c.1775G>A p.Arg592Gln Missense 6/10 -
8-53586706-A-G RB1CC1 c.701T>C p.Met234Thr Missense 7/24 -
1-232144598-A-T DISC1 c.2110A>T p.Ser704Cys Missense 11/13 -
4-110865077-G-A EGF c.589G>A p.Glu197Lys Missense 4/23 -
2-225362478-C-T CUL3 c.1501G>A p.Val501Ile Missense 11/15 -
5-140187322-C-T PCDHA1 c.2394+19053C>T - IntronicSNV - 1/3
2-17897488-T-C SMC6 c.1390A>G p.Arg464Gly Missense 14/27 -
4-39000305-A-T TMEM156 c.313T>A p.Ser105Thr Missense 2/7 -
1-167095881-G-A DUSP27 c.1513G>A p.Ala505Thr Missense 6/6 -
12-51737607-G-A CELA1 c.130C>T p.Arg44Trp Missense 3/8 -
1-111854889-A-G CHIA c.-61+549A>G - intron_variant - 3/9
6-33036853-A-T HLA-DPA1 c.571T>A p.Phe191Ile Missense 3/5 -
19-50865535-A-G NAPSA c.119T>C p.Ile40Thr Missense 2/9 -
7-116339364-G-A MET c.226G>A p.Glu76Lys Missense 2/21 -
19-51841417-C-G VSIG10L c.1775G>C p.Arg592Pro Missense 6/10 -
8-53586706-A-T RB1CC1 c.701T>A p.Met234Lys Missense 7/24 -
2-224862956-T-A SERPINE2 c.363A>T p.Glu121Asp Missense 3/9 -
10-129899778-G-C MKI67 c.9449C>G p.Thr3150Ser Missense 14/15 -
8-124453543-T-G WDYHV1 c.509-3T>G - IntronicSNV - 5/5
8-124453543-T-A WDYHV1 c.509-3T>A - IntronicSNV - 5/5
15-40710436-AGA-TGT IVD c.1165_1167delAGAinsTGT p.Arg389Cys Missense 11/11 -
6-132039819-TC-AG ENPP3 c.1420_1421delTCinsAG p.Ser474Arg Missense 16/25 -
4-39000305-A-G TMEM156 c.313T>C p.Ser105Pro Missense 2/7 -
6-165703523-C-A C6orf118 c.1154G>T p.Arg385Leu Missense 7/9 -
6-132014660-C-G ENPP3 c.1308C>G p.Phe436Leu Missense 15/25 -
11-66839042-GG-AT RHOD c.602_603delGGinsAT p.Arg201His Missense 5/5 -
15-43817404-G-A MAP1A c.3733G>A p.Asp1245Asn Missense 4/6 -
12-27850113-A-T REP15 c.618A>T p.Glu206Asp Missense 1/1 -
2-224862956-T-G SERPINE2 c.363A>C p.Glu121Asp Missense 3/9 -
3-50645430-C-G CISH c.385G>C p.Val129Leu Missense 3/3 -
3-50645430-C-A CISH c.385G>T p.Val129Leu Missense 3/3 -
11-66834256-A-G RHOD c.268A>G p.Ser90Gly Missense 3/5 -
4-110885632-CT-TG EGF c.1514_1515delCTinsTG p.Thr505Met Missense 10/23 -
11-77301341-G-A AQP11 c.304G>A p.Gly102Ser Missense 1/3 -
1-212273764-T-C DTL c.1432T>C p.Ser478Pro Missense 14/15 -
4-95561531-G-A PDLIM5 c.886G>A p.Val296Met Missense 9/13 -
2-179449131-G-A TTN c.57443C>T p.Ser19148Leu Missense 260/312 -
17-73753503-T-C ITGB4 c.5336T>C p.Leu1779Pro Missense 40/40 -
17-73753503-T-G ITGB4 c.5336T>G p.Leu1779Arg Missense 40/40 -
2-220355529-A-G SPEG c.9236A>G p.His3079Arg Missense 38/41 -
16-11836586-T-C TXNDC11 c.1A>G p.Met1Val Missense 1/12 -
3-124731485-C-G HEG1 c.2938G>C p.Val980Leu Missense 6/17 -
2-112755001-A-G MERTK c.1552A>G p.Ile518Val Missense 10/19 -
11-6239344-G-C FAM160A2 c.1514C>G p.Thr505Arg Missense 9/12 -
11-6239344-G-A FAM160A2 c.1514C>T p.Thr505Met Missense 9/12 -
22-41521960-T-G EP300 c.822T>G p.Ile274Met Missense 3/31 -
7-134889141-G-A WDR91 c.770C>T p.Pro257Leu Missense 6/15 -
2-111416301-A-C BUB1 c.1295T>G p.Val432Gly Missense 12/25 -
19-1043748-A-G ABCA7 c.955A>G p.Thr319Ala Missense 10/47 -
11-66824458-G-C RHOD c.85G>C p.Gly29Arg Missense 1/5 -
9-136132875-T-C ABO c.294A>G p.Ala98Ala Synonymous 7/8 -
9-136132875-T-G ABO c.294A>C p.Ala98Ala Synonymous 7/8 -
17-47210506-C-A B4GALNT2 c.119C>A p.Ala40Asp Missense 1/11 -
22-31491332-C-T SMTN c.1676C>T p.Ala559Val Missense 12/21 -
9-104335682-C-T GRIN3A c.3122G>A p.Arg1041Gln Missense 9/9 -
13-52440130-A-C CCDC70 c.583A>C - missense_variant 2/2 -
19-41633980-C-A CYP2F1 c.1469C>A p.Pro490Gln Missense 10/10 -
2-234255547-G-A SAG c.1207G>A p.Val403Ile Missense 16/16 -
11-66824380-G-C RHOD c.7G>C p.Ala3Pro Missense 1/5 -
20-10036202-G-A ANKEF1 c.2225G>A p.Arg742Gln Missense 11/11 -
16-11785922-AA-AG TXNDC11 c.1123_1124delTTinsAG p.Leu375Arg Missense 8/12 -
1-145586839-C-G NUDT17 c.849G>C p.Lys283Asn Missense 7/8 -
9-136555629-T-C SARDH c.1942A>G p.Met648Val Missense 16/21 -
15-40700152-G-T IVD c.168G>T p.Gln56His Missense 2/11 -
2-186659184-C-A FSIP2 c.7321C>A - missense_variant 16/23 -
3-109052732-T-C DPPA4 c.163A>G p.Ile55Val Missense 2/7 -
19-17170885-C-T HAUS8 c.244G>A p.Gly82Arg Missense 5/11 -
16-11830078-T-A TXNDC11 c.266A>T p.Asp89Val Missense 2/12 -
10-126678254-T-C CTBP2 c.1171A>G p.Ile391Val Missense 11/11 -
4-110897331-G-C EGF c.1993G>C p.Val665Leu Missense 13/23 -
11-118405068-A-G TMEM25 c.1025A>G p.Gln342Arg Missense 8/9 -
22-26159289-G-C MYO18B c.131G>C p.Gly44Ala Missense 3/44 -
10-28260151-A-T ARMC4 c.1028T>A p.Ile343Asn Missense 8/20 -
16-11830030-GA-GG TXNDC11 c.313_314delTCinsGG p.Ser105Gly Missense 2/12 -
2-17884495-C-T SMC6 c.2071G>A p.Ala691Thr Missense 18/27 -
1-145586839-C-T NUDT17 c.849G>A p.Lys283Lys Synonymous 7/8 -
15-40700152-G-C IVD c.159G>C p.Gln56His Missense 2/11 -
11-111942362-A-G PIH1D2 c.298T>C p.Ser100Pro Missense 3/6 -
19-12462839-G-A ZNF442 c.251C>T p.Pro84Leu Missense 5/6 -
19-17170885-C-A HAUS8 c.244G>T p.Gly82* Nonsense 5/11 -
19-17170885-C-G HAUS8 c.244G>C p.Gly82Arg Missense 5/11 -
1-152329435-C-T FLG2 c.827G>A p.Arg276Gln Missense 3/3 -
4-110902131-G-A EGF c.2371G>A p.Gly791Ser Missense 15/23 -
20-31652292-G-C BPIFB3 c.682G>C p.Val228Leu Missense 7/15 -
19-8808373-G-T ACTL9 c.679C>A p.His227Asn Missense 1/1 -
16-11815447-T-C TXNDC11 c.779A>G p.His260Arg Missense 5/12 -
19-10461586-T-C TYK2 c.3488A>G p.Glu1163Gly Missense 25/25 -
7-116395481-AG-CA MET c.1774_1775delAGinsCA p.Arg592Gln Missense 6/21 -
19-10668673-A-C KRI1 c.1334T>G - missense_variant 14/19 -
12-133503670-T-C ZNF605 c.215A>G p.Tyr72Cys Missense 5/5 -
2-72361960-A-G CYP26B1 c.791T>C p.Leu264Ser Missense 4/6 -
2-111399317-G-T BUB1 c.2527C>A p.Pro843Thr Missense 21/25 -
9-130489743-A-G TTC16 c.1763A>G p.Glu588Gly Missense 12/14 -
10-129245729-G-A DOCK1 c.5377G>A p.Val1793Met Missense 51/52 -
6-131973762-TT-AG ENPP3 c.358_359delTTinsAG p.Leu120Arg Missense 4/25 -
6-32609173-C-G HLA-DQA1 c.169C>G p.Gln57Glu Missense 2/5 -
19-8808373-G-A ACTL9 c.679C>T p.His227Tyr Missense 1/1 -
11-66824458-G-A RHOD c.85G>A p.Gly29Arg Missense 1/5 -
17-74289705-A-G QRICH2 c.605T>C p.Leu202Ser Missense 4/19 -
1-6705874-G-C DNAJC11 c.869C>G p.Thr290Ser Missense 8/16 -
1-153520954-C-T S100A3 c.8G>A p.Arg3Lys Missense 2/3 -
2-111416070-G-A BUB1 c.1433C>T p.Pro478Leu Missense 13/25 -
6-46801071-G-T MEP1A c.1405G>T p.Val469Leu Missense 11/14 -
11-82644904-G-A DDIAS c.2524G>A p.Val842Ile Missense 6/6 -
9-136132875-T-A ABO c.294A>T p.Ala98Ala Synonymous 7/8 -
11-118509877-C-T PHLDB1 c.2647-3C>T - IntronicSNV - 12/23
1-183542387-T-C NCF2 c.542A>G p.Lys181Arg Missense 5/15 -
9-136287582-C-T ADAMTS13 c.19C>T p.Arg7Trp Missense 1/29 -
11-210660-C-T RIC8A c.816C>T p.His272His Synonymous 4/10 -
12-53088484-C-T KRT77 c.1006G>A p.Asp336Asn Missense 5/9 -
9-113251951-T-C SVEP1 c.1909A>G p.Ile637Val Missense 9/48 -
6-132059228-G-T ENPP3 c.2225G>T p.Gly742Val Missense 23/25 -
19-35719076-C-T FAM187B c.508G>A p.Glu170Lys Missense 1/2 -
4-110884380-G-A EGF c.1364G>A p.Ser455Asn Missense 9/23 -
15-74473739-C-G STRA6 c.1581G>C p.Met527Ile Missense 17/19 -
22-41521988-TT-CC EP300 c.850_851delTTinsCC p.Leu284Pro Missense 3/31 -
9-136287582-C-G ADAMTS13 c.19C>G p.Arg7Gly Missense 1/29 -
4-88732918-A-G IBSP c.810A>G p.Glu270Glu Synonymous 7/7 -
6-32487402-C-A HLA-DRB5 c.397G>T p.Ala133Ser Missense 3/6 -
11-210660-C-G RIC8A c.816C>G p.His272Gln Missense 4/10 -
19-38983180-G-T RYR1 c.6178G>T p.Gly2060Cys Missense 38/106 -
14-105241995-G-C AKT1 c.429C>G p.His143Gln Missense 5/14 -
12-70065214-T-G BEST3 c.455A>C p.Gln152Pro Missense 5/6 -
15-59500116-T-G MYO1E c.1530+764A>C - IntronicSNV - 14/27
15-59500116-T-C MYO1E c.1530+764A>G - IntronicSNV - 14/27
17-72540936-G-A CD300C c.212C>T p.Thr71Ile Missense 2/4 -
11-118430519-C-T IFT46 c.26G>A p.Cys9Tyr Missense 3/13 -
21-30255347-C-A N6AMT1 c.181G>T p.Ala61Ser Missense 2/6 -
15-40913840-G-T KNL1 c.1378G>T p.Ala460Ser Missense 10/26 -
1-1959699-G-A GABRD c.659G>A p.Arg220His Missense 6/9 -
1-211840498-T-C NEK2 c.1061A>G p.Asn354Ser Missense 7/8 -
1-236176777-T-G NID1 c.2338A>C p.Thr780Pro Missense 11/20 -
1-236176777-T-C NID1 c.2338A>G p.Thr780Ala Missense 11/20 -
19-39307103-C-T ECH1 c.649G>A p.Gly217Arg Missense 7/10 -
12-319125-A-G SLC6A12 c.28T>C p.Cys10Arg Missense 4/17 -
19-9086318-G-C MUC16 c.5497C>G p.Leu1833Val Missense 1/84 -
2-111416293-T-A BUB1 c.1303A>T p.Thr435Ser Missense 12/25 -
7-116380075-A-C MET c.1464A>C p.Pro488Pro Synonymous 4/21 -
1-212220538-C-T DTL c.323C>T p.Pro108Leu Missense 4/15 -
6-131973758-C-A ENPP3 c.354C>A p.Asp118Glu Missense 4/25 -
6-131973758-C-G ENPP3 c.354C>G p.Asp118Glu Missense 4/25 -
13-52440130-A-G CCDC70 c.583A>G - missense_variant 2/2 -
17-4797305-G-A MINK1 c.2476G>A p.Val826Ile Missense 21/31 -
5-52780865-A-C FST c.760A>C p.Lys254Gln Missense 5/6 -
6-26388405-G-T BTN2A2 c.607G>T p.Gly203Cys Missense 4/8 -
2-1168781-C-A SNTG2 c.503C>A p.Ser168Tyr Missense 8/17 -
6-26388405-G-C BTN2A2 c.607G>C p.Gly203Arg Missense 4/8 -
7-116380939-AGA-TGT MET c.1561_1563delAGAinsTGT p.Arg521Cys Missense 5/21 -
19-2939401-C-A ZNF77 c.8G>T p.Cys3Phe Missense 2/4 -
4-95507582-A-G PDLIM5 c.580A>G p.Thr194Ala Missense 7/13 -
11-5536848-G-A UBQLNL c.824C>T p.Ala275Val Missense 1/1 -
5-52779967-T-C FST c.565T>C p.Cys189Arg Missense 4/6 -
19-5831840-C-T FUT6 c.739G>A p.Glu247Lys Missense 3/3 -
17-7579379-T-C TP53 c.308A>G p.Tyr103Cys Missense 4/11 -
14-105246451-G-C AKT1 c.149C>G p.Ala50Gly Missense 3/14 -
12-25311489-G-T CASC1 c.115C>A p.Arg39Ser Missense 4/16 -
6-29364643-T-A OR12D2 c.167T>A p.Leu56His Missense 1/1 -
6-29364643-T-C OR12D2 c.167T>C p.Leu56Pro Missense 1/1 -
2-29380087-G-A CLIP4 c.1273G>A p.Val425Ile Missense 11/16 -
2-224862838-T-C SERPINE2 c.481A>G p.Thr161Ala Missense 3/9 -
1-180886140-C-T KIAA1614 c.901C>T p.Arg301Cys Missense 2/9 -
15-40708541-T-G IVD c.1037T>G p.Leu346Arg Missense 10/11 -
17-7579580-G-C TP53 c.107C>G p.Pro36Arg Missense 4/11 -
1-204966428-C-T NFASC c.2913C>T p.Ile971Ile Synonymous 25/30 -
2-73717567-G-T ALMS1 c.8484G>T - missense_variant 10/23 -
2-73717567-G-A ALMS1 c.8484G>A - synonymous_variant 10/23 -
2-73717567-G-C ALMS1 c.8484G>C - missense_variant 10/23 -
17-80193913-C-T SLC16A3 c.29C>T p.Pro10Leu Missense 2/5 -
19-8176640-C-T FBN3 c.3976G>A p.Val1326Ile Missense 32/64 -
19-8176640-C-A FBN3 c.3976G>T p.Val1326Phe Missense 32/64 -
1-204966428-C-G NFASC c.2913C>G p.Ile971Met Missense 25/30 -
19-40009396-A-G SELENOV c.851A>G p.Lys284Arg Missense 3/6 -
10-16918997-T-C CUBN c.9005A>G p.Glu3002Gly Missense 57/67 -
22-41513559-A-G EP300 c.463A>G p.Asn155Asp Missense 2/31 -
12-53086645-G-A KRT77 c.1100C>T p.Thr367Met Missense 6/9 -
4-110901274-GTT-ATG EGF c.2200_2202delGTTinsATG p.Val734Met Missense 14/23 -
8-55537560-C-T RP1 c.1118C>T p.Thr373Ile Missense 4/4 -
12-9875356-C-A CLECL1 c.370G>T p.Val124Leu Missense 2/2 -
4-95444900-A-T PDLIM5 c.122A>T p.Gln41Leu Missense 3/13 -
11-46916179-T-G LRP4 c.1501A>C p.Asn501His Missense 12/38 -
6-29274486-T-C OR14J1 c.20T>C p.Met7Thr Missense 1/1 -
15-40702991-C-T IVD c.370C>T p.Pro124Ser Missense 3/11 -
14-105238767-C-T AKT1 c.1195G>A p.Ala399Thr Missense 12/14 -
11-118967758-T-C DPAGT1 c.1177A>G p.Ile393Val Missense 9/9 -
6-152469188-C-G SYNE1 c.24968G>C p.Gly8323Ala Missense 137/146 -
22-45767421-C-T SMC1B c.2243G>A p.Cys748Tyr Missense 14/25 -
2-183699584-G-T FRZB c.970C>A p.Arg324Ser Missense 6/6 -
2-183699584-G-C FRZB c.970C>G p.Arg324Gly Missense 6/6 -
7-134849213-G-A TMEM140 c.20G>A p.Arg7Gln Missense 2/2 -
7-134849213-G-C TMEM140 c.20G>C p.Arg7Pro Missense 2/2 -
12-55887087-G-C OR6C68 c.926G>C p.Arg309Pro Missense 1/1 -
12-55887087-G-T OR6C68 c.926G>T p.Arg309Leu Missense 1/1 -
10-12046546-T-C UPF2 c.1487A>G p.Asn496Ser Missense 5/22 -
22-32112461-T-C PRR14L c.1364A>G p.Asn455Ser Missense 4/9 -
18-22806981-C-T ZNF521 c.901G>A p.Glu301Lys Missense 4/8 -
6-32632782-G-A HLA-DQB1 c.172C>T p.Leu58Phe Missense 2/5 -
20-42826350-A-C OSER1 c.221T>G p.Val74Gly Missense 4/4 -
15-43020983-G-A CDAN1 c.2671C>T p.Arg891Cys Missense 20/28 -
8-17731611-T-A FGL1 c.419A>T p.Tyr140Phe Missense 5/8 -
4-110884451-T-A EGF c.1435T>A p.Ser479Thr Missense 9/23 -
6-121577370-T-C TBC1D32 c.1795A>G p.Ile599Val Missense 16/32 -
7-72418992-C-T POM121 c.2983C>T p.Pro995Ser Missense 16/16 -
1-149858147-GA-GG HIST2H2BE c.43_44delTCinsGG p.Ser15Gly Missense 1/1 -
2-183699584-G-A FRZB c.970C>T p.Arg324Cys Missense 6/6 -
2-231118041-A-C SP140 c.1068A>C p.Leu356Phe Missense 11/27 -
10-50038878-G-C WDFY4 c.6474G>C p.Glu2158Asp Missense 38/62 -
2-220250232-G-T DNPEP c.688C>A p.Leu230Ile Missense 8/15 -
15-76726465-G-T SCAPER c.3265C>A p.Pro1089Thr Missense 26/32 -
4-110865081-C-T EGF c.593C>T p.Thr198Ile Missense 4/23 -
5-52780974-C-G FST c.869C>G p.Thr290Ser Missense 5/6 -
2-220250232-G-C DNPEP c.688C>G p.Leu230Val Missense 8/15 -
2-220250232-G-A DNPEP c.688C>T p.Leu230Phe Missense 8/15 -
17-27889986-T-C ABHD15 c.1000A>G p.Thr334Ala Missense 2/2 -
4-74306473-C-T AFP c.425C>T p.Pro142Leu Missense 4/15 -
4-110864493-A-T EGF c.411A>T p.Glu137Asp Missense 3/23 -
4-110864493-A-C EGF c.411A>C p.Glu137Asp Missense 3/23 -
12-31648826-C-T DENND5B c.155G>A p.Arg52Lys Missense 2/21 -
2-165578602-C-G COBLL1 c.979G>C p.Val327Leu Missense 6/14 -
12-10137557-A-C CLEC12A c.730A>C p.Lys244Gln Missense 6/6 -
11-5372856-A-G OR51B6 c.119A>G p.Asn40Ser Missense 1/1 -
11-111753246-G-A C11orf1 c.200G>A p.Arg67His Missense 2/4 -
9-21816758-G-A MTAP c.166G>A p.Val56Ile Missense 3/8 -
19-2939396-T-C ZNF77 c.13A>G p.Ile5Val Missense 2/4 -
20-31656632-C-G BPIFB3 c.1002C>G p.His334Gln Missense 10/15 -
2-224849562-G-A SERPINE2 c.791C>T p.Pro264Leu Missense 5/9 -
10-129907544-G-C MKI67 c.2560C>G p.Leu854Val Missense 13/15 -
17-3493200-C-G TRPV1 c.945G>C p.Met315Ile Missense 6/16 -
2-97757347-G-A FAHD2B c.97C>T p.Arg33Trp Missense 2/8 -
2-73717656-A-G ALMS1 c.8573A>G - missense_variant 10/23 -
17-3493200-C-T TRPV1 c.945G>A p.Met315Ile Missense 6/16 -
12-18719972-T-G PIK3C2G c.3869T>G p.Val1290Gly Missense 28/32 -
6-131979542-C-T ENPP3 c.544C>T p.Pro182Ser Missense 6/25 -
11-111957665-G-A SDHD c.34G>A p.Gly12Ser Missense 1/4 -
19-14910210-C-G OR7C1 c.739G>C p.Val247Leu Missense 1/1 -
4-110884334-TC-AT EGF c.1318_1319delTCinsAT p.Ser440Ile Missense 9/23 -
14-105239794-T-G AKT1 c.826A>C p.Lys276Gln Missense 9/14 -
10-118368606-T-C PNLIPRP1 c.1382T>C p.Leu461Pro Missense 13/13 -
6-131996317-T-C ENPP3 c.860T>C p.Met287Thr Missense 9/25 -
16-71983772-G-C PKD1L3 c.3528C>G p.Ser1176Arg Missense 21/31 -
6-147136244-A-G ADGB c.4895A>G p.His1632Arg Missense 36/36 -
4-110864572-G-A EGF c.490G>A p.Ala164Thr Missense 3/23 -
11-66824483-T-C RHOD c.110T>C p.Phe37Ser Missense 1/5 -
3-50645469-A-T CISH c.346T>A p.Phe116Ile Missense 3/3 -
12-41946539-G-A PDZRN4 c.511G>A p.Gly171Ser Missense 4/8 -
6-32632688-T-C HLA-DQB1 c.266A>G p.Asp89Gly Missense 2/5 -
17-56448297-C-T RNF43 c.350G>A p.Arg117His Missense 3/10 -
4-110865099-C-A EGF c.611C>A p.Ala204Asp Missense 4/23 -
7-116403288-T-A MET c.2549T>A p.Ile850Asn Missense 11/21 -
20-31656632-C-A BPIFB3 c.1002C>A p.His334Gln Missense 10/15 -
17-7579374-C-G TP53 c.313G>C p.Gly105Arg Missense 4/11 -
9-136199503-G-A SURF6 c.487C>T p.Arg163Trp Missense 4/5 -
8-6500544-C-T MCPH1 c.2482C>T p.Pro828Ser Missense 14/14 -
4-74315761-A-T AFP c.1200A>T p.Glu400Asp Missense 10/15 -
4-74315761-A-C AFP c.1200A>C p.Glu400Asp Missense 10/15 -
19-17743622-C-A UNC13A c.3397G>T p.Ala1133Ser Missense 28/44 -
17-56557545-C-T HSF5 c.634G>A p.Asp212Asn Missense 2/6 -
19-17743622-C-T UNC13A c.3397G>A p.Ala1133Thr Missense 28/44 -
7-116380075-A-T MET c.1464A>T p.Pro488Pro Synonymous 4/21 -
8-22136913-G-A PIWIL2 c.14G>A p.Arg5Gln Missense 2/23 -
8-22136913-G-T PIWIL2 c.14G>T p.Arg5Leu Missense 2/23 -
17-7579377-G-C TP53 c.310C>G p.Gln104Glu Missense 4/11 -
10-129901825-T-C MKI67 c.8279A>G p.Asp2760Gly Missense 13/15 -
10-126692016-A-C CTBP2 c.104T>G p.Leu35Arg Missense 4/11 -
17-37840860-G-C PGAP3 c.422C>G p.Ala141Gly Missense 3/8 -
12-9316773-T-C PZP c.2570A>G p.Asn857Ser Missense 20/36 -
11-115085467-A-C CADM1 c.855T>G p.Asp285Glu Missense 7/10 -
22-44342116-A-G PNPLA3 c.1300A>G p.Lys434Glu Missense 9/9 -
19-8188812-C-T FBN3 c.2812G>A p.Val938Ile Missense 23/64 -
10-16919052-T-G CUBN c.8950A>C p.Ile2984Leu Missense 57/67 -
15-40707675-C-G IVD c.864C>G p.His291Gln Missense 8/11 -
10-11797500-G-A ECHDC3 c.484G>A p.Asp162Asn Missense 4/5 -
15-85341859-G-A ZNF592 c.2777G>A p.Ser926Asn Missense 8/11 -
19-33605312-T-C GPATCH1 c.2183T>C p.Leu728Ser Missense 15/20 -
2-27424636-G-A SLC5A6 c.1442C>T p.Ser481Phe Missense 14/17 -
15-43661802-T-A ZSCAN29 c.310A>T p.Arg104* Nonsense 1/5 -
10-91488979-A-T KIF20B c.2246A>T p.His749Leu Missense 18/33 -
2-111430250-T-C BUB1 c.410A>G p.Gln137Arg Missense 4/25 -
8-106814656-G-C ZFPM2 c.2346G>C p.Glu782Asp Missense 8/8 -
17-7579332-C-G TP53 c.355G>C p.Ala119Pro Missense 4/11 -
12-51723499-T-C CELA1 c.728A>G p.Gln243Arg Missense 7/8 -
6-33048661-A-G HLA-DPB1 c.313A>G p.Met105Val Missense 2/6 -
22-39498038-G-C APOBEC3H c.534G>C p.Glu178Asp Missense 4/5 -
4-110864509-A-G EGF c.427A>G p.Thr143Ala Missense 3/23 -
15-40707675-C-A IVD c.873C>A p.His291Gln Missense 8/11 -
1-152733472-C-A KPRP c.1408C>A p.Pro470Thr Missense 2/2 -
12-56092668-C-A ITGA7 c.824G>T p.Arg275Leu Missense 6/25 -
17-4689313-G-C VMO1 c.230C>G p.Thr77Ser Missense 2/3 -
1-212276196-C-T DTL c.2107C>T p.Pro703Ser Missense 15/15 -
4-74303989-GA-AC AFP c.236_237delGAinsAC p.Gly79Asp Missense 3/15 -
1-175046789-A-G TNN c.235A>G p.Arg79Gly Missense 2/19 -
17-79662836-G-C HGS c.1200G>C p.Glu400Asp Missense 15/22 -
20-31676804-A-C BPIFB4 c.959A>C p.Asn320Thr Missense 6/16 -
6-29364835-T-A OR12D2 c.359T>A p.Leu120His Missense 1/1 -
17-73949540-G-C ACOX1 c.822C>G p.Ile274Met Missense 7/14 -
5-149006726-A-C ARHGEF37 c.1552A>C p.Ser518Arg Missense 11/13 -
8-124710664-C-T ANXA13 c.322G>A p.Val108Ile Missense 4/11 -
7-116339725-T-C MET c.587T>C p.Phe196Ser Missense 2/21 -
22-45258351-C-T PRR5-ARHGAP8 c.1544C>T p.Ala515Val Missense 15/15 -
8-21976710-T-C HR c.3064A>G p.Thr1022Ala Missense 15/19 -
6-29364835-T-G OR12D2 c.359T>G p.Leu120Arg Missense 1/1 -
22-36587280-A-C APOL4 c.897T>G p.Pro299Pro Synonymous 6/6 -
1-161761276-G-C ATF6 c.433G>C p.Ala145Pro Missense 5/16 -
11-47370041-T-C MYBPC3 c.706A>G p.Ser236Gly Missense 6/35 -
1-183085755-A-G LAMC1 c.1372A>G p.Ile458Val Missense 7/28 -
1-161479745-A-G FCGR2A c.497A>G p.His166Arg Missense 4/7 -
22-41513378-T-G EP300 c.282T>G p.Asn94Lys Missense 2/31 -
6-111696091-T-C REV3L c.3467A>G p.Tyr1156Cys Missense 14/33 -
10-28260151-A-G ARMC4 c.1028T>C p.Ile343Thr Missense 8/20 -
9-136277482-T-G REXO4 c.395-1289A>C - IntronicSNV - 2/5
17-40065774-T-G ACLY c.525A>C p.Glu175Asp Missense 5/29 -
11-3039145-C-G CARS c.1420G>C p.Val474Leu Missense 14/22 -
10-16967586-C-T CUBN c.6459G>A p.Leu2153Leu Synonymous 42/67 -
1-145536082-G-A ITGA10 c.2174G>A p.Arg725Gln Missense 17/30 -
22-39496336-G-A APOBEC3H c.53G>A p.Arg18His Missense 2/5 -
22-39496336-G-T APOBEC3H c.53G>T p.Arg18Leu Missense 2/5 -
7-116340212-T-G MET c.1074T>G p.Asp358Glu Missense 2/21 -
7-116340212-T-A MET c.1074T>A p.Asp358Glu Missense 2/21 -
16-11824516-A-C TXNDC11 c.684T>G p.Phe228Leu Missense 4/12 -
15-42235316-C-T EHD4 c.460G>A p.Val154Ile Missense 3/6 -
20-31652292-G-A BPIFB3 c.682G>A p.Val228Met Missense 7/15 -
17-39388811-C-A KRTAP9-3 c.58C>A p.Gln20Lys Missense 1/1 -
2-187693003-A-T ZSWIM2 c.1610T>A p.Phe537Tyr Missense 9/9 -
2-198359436-T-C HSPD1 c.551A>G p.Asn184Ser Missense 5/12 -
15-65494212-A-G CILP c.1184T>C p.Ile395Thr Missense 8/9 -
20-3025107-C-T GNRH2 c.47C>T p.Ala16Val Missense 2/4 -
17-40065774-T-C ACLY c.525A>G p.Glu175Glu Synonymous 5/29 -
11-3039145-C-T CARS c.1420G>A p.Val474Ile Missense 14/22 -
2-111406903-GA-AA BUB1 c.2254_2255delTCinsAA p.Ser752Asn Missense 19/25 -
2-224866589-AA-CC SERPINE2 c.28_29delTTinsCC p.Leu10Pro Missense 2/9 -
8-72984041-C-G TRPA1 c.173G>C p.Arg58Thr Missense 2/27 -
16-11829911-C-G TXNDC11 c.433G>C p.Ala145Pro Missense 2/12 -
2-187698707-C-T ZSWIM2 c.794G>A p.Cys265Tyr Missense 6/9 -
10-43319197-G-A BMS1 c.3421G>A p.Val1141Ile Missense 21/23 -
22-44395451-T-C PARVB c.109T>C p.Trp37Arg Missense 2/14 -
22-44395451-T-A PARVB c.109T>A p.Trp37Arg Missense 2/14 -
2-111430241-T-A BUB1 c.419A>T p.Tyr140Phe Missense 4/25 -
2-111430241-T-C BUB1 c.419A>G p.Tyr140Cys Missense 4/25 -
17-80352303-G-A OGFOD3 c.940C>T p.Pro314Ser Missense 9/10 -
19-1045173-G-A ABCA7 c.1388G>A p.Arg463His Missense 12/47 -
19-1045173-G-T ABCA7 c.1388G>T p.Arg463Leu Missense 12/47 -
7-116340049-G-T MET c.911G>T p.Arg304Ile Missense 2/21 -
5-140181734-A-G PCDHA1 c.2394+13465A>G - IntronicSNV - 1/3
11-5602438-T-A OR52B6 c.332T>A p.Leu111His Missense 1/1 -
6-110620177-T-C METTL24 c.734A>G p.His245Arg Missense 4/5 -
17-33433487-C-T RAD51D c.494G>A p.Arg165Gln Missense 6/10 -
15-40698150-G-A IVD c.131G>A p.Gly44Glu Missense 1/11 -
4-74313184-A-T AFP c.849A>T p.Lys283Asn Missense 8/15 -
1-161967681-A-G OLFML2B c.1408T>C p.Trp470Arg Missense 6/8 -
4-74313184-A-C AFP c.849A>C p.Lys283Asn Missense 8/15 -
1-161967681-A-T OLFML2B c.1408T>A p.Trp470Arg Missense 6/8 -
12-11149711-C-T TAS2R20 c.764G>A p.Arg255Gln Missense 1/1 -
4-5690902-T-C EVC2 c.688A>G p.Ser230Gly Missense 5/22 -
19-9362443-C-T OR7E24 c.724C>T p.Pro242Ser Missense 1/1 -
2-24413298-A-G FAM228A c.419A>G p.Tyr140Cys Missense 6/6 -
2-224866499-T-C SERPINE2 c.119A>G p.Asn40Ser Missense 2/9 -
2-196825238-C-A DNAH7 c.2637G>T p.Met879Ile Missense 18/65 -
22-25424579-C-A KIAA1671 c.613C>A p.Pro205Thr Missense 1/11 -
4-89668859-C-A FAM13A c.1327G>T p.Val443Phe Missense 12/18 -
7-116339550-AGA-TGT MET c.412_414delAGAinsTGT p.Arg138Cys Missense 2/21 -
2-111430271-G-T BUB1 c.389C>A p.Ala130Asp Missense 4/25 -
4-89668859-C-T FAM13A c.1327G>A p.Val443Ile Missense 12/18 -
22-32487700-G-A SLC5A1 c.1231G>A p.Ala411Thr Missense 11/15 -
19-9083457-C-T MUC16 c.8358G>A p.Met2786Ile Missense 1/84 -
7-116380075-A-G MET c.1464A>G p.Pro488Pro Synonymous 4/21 -
4-57173854-G-T KIAA1211 c.274G>T p.Ala92Ser Missense 5/11 -
4-57173854-G-A KIAA1211 c.274G>A p.Ala92Thr Missense 5/11 -
1-212245548-T-C DTL c.1028T>C p.Ile343Thr Missense 11/15 -
22-41573092-G-A EP300 c.5377G>A p.Ala1793Thr Missense 31/31 -
X-108708552-A-G GUCY2F c.851T>C p.Leu284Pro Missense 3/20 -
1-230845794-A-G AGT c.803T>C p.Met268Thr Missense 2/5 -
8-23001988-A-G TNFRSF10D c.929T>C p.Leu310Ser Missense 7/9 -
19-7831628-G-A CLEC4M c.871G>A p.Asp291Asn Missense 5/7 -
6-46806809-C-T MEP1A c.2177C>T p.Thr726Met Missense 14/14 -
4-95539327-CGG-ATC PDLIM5 c.766_768delCGGinsATC p.Arg256Ile Missense 8/13 -
22-45723807-G-C FAM118A c.385G>C p.Val129Leu Missense 4/9 -
15-99670278-C-T SYNM c.1710C>T - synonymous_variant 5/5 -
5-169310213-A-C DOCK2 c.2799+42357A>C - IntronicSNV - 27/51
17-79514112-G-T FAAP100 c.1996C>A p.Pro666Thr Missense 5/9 -
19-7763248-G-C FCER2 c.184C>G p.Arg62Gly Missense 4/11 -
20-40049450-T-A CHD6 c.5825A>T p.His1942Leu Missense 31/37 -
4-95539300-G-C PDLIM5 c.739G>C p.Gly247Arg Missense 8/13 -
1-175049379-G-A TNN c.865G>A p.Asp289Asn Missense 4/19 -
15-99670278-C-G SYNM c.1710C>G - missense_variant 5/5 -
22-44489868-T-C PARVB c.272T>C p.Val91Ala Missense 3/14 -
3-9956279-G-A IL17RE c.1344G>A p.Pro448Pro Synonymous 14/16 -
14-105246505-T-C AKT1 c.95A>G p.Asp32Gly Missense 3/14 -
19-7763248-G-A FCER2 c.184C>T p.Arg62Trp Missense 4/11 -
1-175049379-G-T TNN c.865G>T p.Asp289Tyr Missense 4/19 -
4-110790911-A-G LRIT3 c.1006A>G p.Met336Val Missense 4/4 -
11-111899635-A-G DLAT c.626A>G p.Gln209Arg Missense 4/14 -
4-110790911-A-T LRIT3 c.1006A>T p.Met336Leu Missense 4/4 -
19-35612159-C-G FXYD3 c.97+10C>G - IntronicSNV - 6/8
7-116146074-C-G CAV2 c.388C>G p.Gln130Glu Missense 3/3 -
7-116339190-TT-CC MET c.52_53delTTinsCC p.Leu18Pro Missense 2/21 -
7-139026152-T-G FMC1 c.22T>G p.Ser8Ala Missense 1/2 -
17-39464046-G-C KRTAP16-1 c.1460C>G p.Ala487Gly Missense 1/1 -
2-111419262-C-T BUB1 c.1114G>A p.Ala372Thr Missense 10/25 -
17-39464046-G-T KRTAP16-1 c.1460C>A p.Ala487Asp Missense 1/1 -
4-3215835-T-C HTT c.6931T>C - missense_variant 50/67 -
11-66824389-G-T RHOD c.16G>T p.Ala6Ser Missense 1/5 -
6-33048641-A-G HLA-DPB1 c.293A>G p.Lys98Arg Missense 2/6 -
2-85893766-C-T SFTPB c.403G>A p.Val135Ile Missense 6/12 -
12-53004603-G-A KRT73 c.1127C>T p.Thr376Met Missense 7/9 -
2-111435550-A-G BUB1 c.23T>C p.Leu8Pro Missense 1/25 -
15-40698113-G-A IVD c.94G>A p.Ala32Thr Missense 1/11 -
15-40708359-A-G IVD c.962A>G p.Asp321Gly Missense 9/11 -
2-28824793-C-G PLB1 c.2602C>G p.His868Asp Missense 37/57 -
2-28824793-C-A PLB1 c.2602C>A p.His868Asn Missense 37/57 -
12-53069014-T-C KRT1 c.1898A>G p.Lys633Arg Missense 9/9 -
19-9060085-C-T MUC16 c.27361G>A p.Ala9121Thr Missense 3/84 -
15-74328141-G-T PML c.1710+1270G>T - IntronicSNV - 7/7
2-44004010-T-G DYNC2LI1 c.98T>G p.Phe33Cys Missense 2/13 -
2-44004010-T-C DYNC2LI1 c.98T>C p.Phe33Ser Missense 2/13 -
X-24382870-G-A SUPT20HL1 c.1993G>A p.Ala665Thr Missense 1/1 -
2-25022598-A-G CENPO c.101A>G p.Gln34Arg Missense 3/8 -
3-172428660-T-G NCEH1 c.211A>C p.Thr71Pro Missense 2/5 -
9-2644954-C-T VLDLR c.1187-3C>T - IntronicSNV - 8/18
9-2644954-C-G VLDLR c.1187-3C>G - IntronicSNV - 8/18
1-111854938-G-A CHIA c.-61+598G>A - intron_variant - 3/9
3-183753777-G-A HTR3D c.1-411G>A - IntronicSNV - 2/5
3-124728626-A-T HEG1 c.3116T>A p.Met1039Lys Missense 8/17 -
4-1087393-G-T RNF212 c.247-2767C>A - IntronicSNV - 3/9
4-8588986-G-A GPR78 c.988G>A p.Ala330Thr Missense 3/3 -
10-126692001-T-C CTBP2 c.119A>G p.Asp40Gly Missense 4/11 -
9-130495633-C-G TOR2A c.624G>C p.Trp208Cys Missense 3/3 -
8-87060843-T-C PSKH2 c.1006A>G p.Ile336Val Missense 3/3 -
12-14656768-G-C PLBD1 c.1600C>G p.Pro534Ala Missense 11/11 -
4-74319498-GTG-ATC AFP c.1669_1671delGTGinsATC p.Val557Ile Missense 13/15 -
1-149857910-T-A HIST2H2BE c.281A>T p.Glu94Val Missense 1/1 -
17-7579562-T-C TP53 c.125A>G p.Asp42Gly Missense 4/11 -
19-15793235-T-C CYP4F12 c.562T>C p.Cys188Arg Missense 6/13 -
4-74313216-C-T AFP c.881C>T p.Thr294Ile Missense 8/15 -
3-124728626-A-G HEG1 c.3116T>C p.Met1039Thr Missense 8/17 -
3-113955187-A-T ZNF80 c.735T>A p.Tyr245* Nonsense 1/1 -
3-113955187-A-C ZNF80 c.735T>G p.Tyr245* Nonsense 1/1 -
3-113955187-A-G ZNF80 c.735T>C p.Tyr245Tyr Synonymous 1/1 -
8-17500162-T-A PDGFRL c.980T>A p.Ile327Asn Missense 7/7 -
8-17500162-T-C PDGFRL c.980T>C p.Ile327Thr Missense 7/7 -
2-111419225-G-A BUB1 c.1151C>T p.Pro384Leu Missense 10/25 -
2-205986458-A-T PARD3B c.950A>T p.Lys317Ile Missense 8/22 -
2-205986458-A-G PARD3B c.950A>G p.Lys317Arg Missense 8/22 -
3-50645291-C-T CISH c.524G>A p.Ser175Asn Missense 3/3 -
17-15611495-T-C ZNF286A c.268T>C p.Tyr90His Missense 5/6 -
17-15611495-T-A ZNF286A c.268T>A p.Tyr90Asn Missense 5/6 -
2-224863011-T-C SERPINE2 c.308A>G p.Lys103Arg Missense 3/9 -
2-223559089-T-C MOGAT1 c.487T>C p.Ser163Pro Missense 4/6 -
2-183703336-G-A FRZB c.598C>T p.Arg200Trp Missense 4/6 -
20-1552430-T-C SIRPB1 c.687A>G p.Ile229Met Missense 3/6 -
12-52946543-C-T KRT71 c.319G>A p.Val107Ile Missense 1/9 -
15-40703508-C-T IVD c.425C>T p.Ala142Val Missense 4/11 -
17-3632836-G-A ITGAE c.2848C>T p.Arg950Trp Missense 24/31 -
12-10954258-C-T TAS2R7 c.912G>A p.Met304Ile Missense 1/1 -
15-45393014-G-T DUOX2 c.2944C>A p.Pro982Thr Missense 23/34 -
15-45393014-G-A DUOX2 c.2944C>T p.Pro982Ser Missense 23/34 -
15-45393014-G-C DUOX2 c.2944C>G p.Pro982Ala Missense 23/34 -
19-49340661-C-A PLEKHA4 c.*177G>T - 3_prime_UTR_variant 17/17 -
5-140517174-T-C PCDHB5 c.2158T>C p.Ser720Pro Missense 1/1 -
4-88732918-A-T IBSP c.810A>T p.Glu270Asp Missense 7/7 -
22-41533664-A-G EP300 c.1630A>G p.Met544Val Missense 8/31 -
7-116380940-G-C MET c.1562G>C p.Arg521Thr Missense 5/21 -
16-11785259-CT-CA TXNDC11 c.1786_1787delAGinsCA p.Arg596Gln Missense 8/12 -
X-153041868-T-A PLXNB3 c.4856T>A p.Val1619Glu Missense 29/37 -
X-153041868-T-G PLXNB3 c.4856T>G p.Val1619Gly Missense 29/37 -
2-111399257-C-T BUB1 c.2587G>A p.Val863Ile Missense 21/25 -
5-140517174-T-G PCDHB5 c.2158T>G p.Ser720Ala Missense 1/1 -
5-140182101-G-T PCDHA1 c.2394+13832G>T - IntronicSNV - 1/3
2-68607947-G-C PLEK c.291G>C p.Lys97Asn Missense 3/9 -
9-116191244-G-A C9orf43 c.1171+1G>A - IntronicSNV - 13/13
8-124448804-T-A WDYHV1 c.346T>A p.Phe116Ile Missense 4/6 -
6-43638636-G-A RSPH9 c.781G>A p.Val261Ile Missense 5/5 -
19-49376584-G-C PPP1R15A c.94G>C p.Ala32Pro Missense 2/3 -
4-95578682-A-T PDLIM5 c.1242A>T p.Glu414Asp Missense 11/13 -
19-49376584-G-A PPP1R15A c.94G>A p.Ala32Thr Missense 2/3 -
12-657404-G-A B4GALNT3 c.794G>A p.Arg265Gln Missense 9/20 -
4-110862272-AG-CA EGF c.298_299delAGinsCA p.Arg100Gln Missense 2/23 -
17-79662836-G-A HGS c.1200G>A p.Glu400Glu Synonymous 15/22 -
16-81323953-G-C BCO1 c.1415G>C p.Gly472Ala Missense 11/11 -
9-135277007-C-T TTF1 c.1202G>A p.Arg401Gln Missense 2/11 -
2-98277090-T-A ACTR1B c.133A>T p.Met45Leu Missense 3/11 -
1-157648543-T-C FCRL3 c.2162A>G p.Asn721Ser Missense 15/15 -
2-98277090-T-C ACTR1B c.133A>G p.Met45Val Missense 3/11 -
19-8808900-A-C ACTL9 c.152T>G p.Val51Gly Missense 1/1 -
16-11773550-G-T TXNDC11 c.2378C>A p.Ala793Glu Missense 12/12 -
19-8808900-A-G ACTL9 c.152T>C p.Val51Ala Missense 1/1 -
22-30888494-C-T SEC14L4 c.631G>A p.Glu211Lys Missense 8/12 -
6-116446506-A-T COL10A1 c.150T>A p.Ser50Arg Missense 2/3 -
7-123508328-A-G HYAL4 c.1A>G p.Met1Val Missense 3/5 -
17-39671724-T-C KRT15 c.1247A>G p.Lys416Arg Missense 6/8 -
5-52776628-C-T FST c.7C>T p.Arg3Cys Missense 1/6 -
7-116339383-C-T MET c.245C>T p.Ala82Val Missense 2/21 -
20-31897554-G-A BPIFB1 c.1436G>A p.Ser479Asn Missense 16/16 -
1-232561520-G-A SIPA1L2 c.4445C>T p.Ser1482Leu Missense 16/21 -
4-74313341-G-A AFP c.1006G>A p.Asp336Asn Missense 8/15 -
10-129902158-C-T MKI67 c.7946G>A p.Arg2649His Missense 13/15 -
20-31897554-G-C BPIFB1 c.1436G>C p.Ser479Thr Missense 16/16 -
X-37953620-C-T SYTL5 c.904C>T p.Arg302Cys Missense 8/17 -
17-7579870-T-A TP53 c.43A>T p.Ser15Cys Missense 2/11 -
15-57925836-C-G GCOM1 c.830C>G p.Ala277Gly Missense 8/14 -
17-4936972-G-A SLC52A1 c.812C>T p.Ala271Val Missense 3/5 -
5-52780027-A-G FST c.625A>G p.Asn209Asp Missense 4/6 -
8-21929924-A-G DMTN c.692A>G p.Lys231Arg Missense 9/16 -
12-53088484-C-G KRT77 c.1006G>C p.Asp336His Missense 5/9 -
8-106814656-G-T ZFPM2 c.2346G>T p.Glu782Asp Missense 8/8 -
14-105246460-T-C AKT1 c.140A>G p.Gln47Arg Missense 3/14 -
6-117683821-G-A ROS1 c.3326C>T p.Ser1109Leu Missense 21/43 -
17-56270442-A-G EPX c.120A>G p.Ile40Met Missense 2/13 -
1-179852074-T-C TOR1AIP1 c.437T>C p.Met146Thr Missense 1/10 -
1-179852074-T-G TOR1AIP1 c.437T>G p.Met146Arg Missense 1/10 -
4-3189553-C-A HTT c.5165C>A p.Thr1722Lys Missense 39/67 -
15-40707091-C-T IVD c.707C>T p.Ala236Val Missense 7/11 -
8-21929924-A-T DMTN c.692A>T p.Lys231Met Missense 9/16 -
11-66834247-C-T RHOD c.259C>T p.Pro87Ser Missense 3/5 -
2-234255547-G-T SAG c.1207G>T p.Val403Phe Missense 16/16 -
22-39497404-G-T APOBEC3H c.313G>T p.Gly105Cys Missense 3/5 -
22-39497404-G-A APOBEC3H c.313G>A p.Gly105Ser Missense 3/5 -
16-11782250-A-G TXNDC11 c.1952T>C p.Leu651Pro Missense 9/12 -
17-65212042-C-T HELZ c.220G>A p.Val74Met Missense 5/33 -
2-197521750-G-A CCDC150 c.466G>A p.Glu156Lys Missense 4/28 -
1-201869257-G-A LMOD1 c.884C>T p.Thr295Met Missense 2/3 -
4-74306431-A-G AFP c.383A>G p.His128Arg Missense 4/15 -
21-22746187-T-C NCAM2 c.1049T>C p.Leu350Pro Missense 9/18 -
1-111891192-C-A PIFO c.313C>A p.His105Asn Missense 4/6 -
16-71318001-G-T CMTR2 c.1823C>A p.Thr608Lys Missense 3/3 -
16-71318001-G-A CMTR2 c.1823C>T p.Thr608Ile Missense 3/3 -
9-136509370-G-A DBH c.952G>A p.Ala318Thr Missense 5/12 -
19-10395208-C-T ICAM1 c.1055C>T p.Pro352Leu Missense 5/7 -
17-43923180-G-T SPPL2C c.908G>T p.Arg303Leu Missense 1/1 -
12-48596241-A-G OR10AD1 c.835T>C p.Tyr279His Missense 1/1 -
6-132006560-A-G ENPP3 c.1177A>G p.Ile393Val Missense 13/25 -
X-99890204-C-T TSPAN6 c.58G>A p.Ala20Thr Missense 3/8 -
19-18329784-C-T PDE4C c.1031G>A p.Arg344Gln Missense 10/16 -
11-7687715-T-C CYB5R2 c.625A>G p.Asn209Asp Missense 8/9 -
11-7687715-T-G CYB5R2 c.625A>C p.Asn209His Missense 8/9 -
17-72588778-C-T C17orf77 c.593C>T p.Thr198Ile Missense 3/3 -
22-18912678-A-G PRODH c.553T>C p.Trp185Arg Missense 5/15 -
16-11794379-G-A TXNDC11 c.835C>T p.His279Tyr Missense 6/12 -
19-49398405-C-G TULP2 c.364G>C p.Gly122Arg Missense 6/13 -
19-49398405-C-T TULP2 c.364G>A p.Gly122Ser Missense 6/13 -
2-98165911-T-C ANKRD36B c.1448A>G p.Glu483Gly Missense 20/44 -
17-15645289-G-A TBC1D26 c.700G>A p.Gly234Ser Missense 11/15 -
2-98853173-G-C VWA3B c.2653G>C p.Val885Leu Missense 19/28 -
16-11785914-T-C TXNDC11 c.1132A>G p.Asn378Asp Missense 8/12 -
15-77450964-C-T PEAK1 c.3212G>A p.Arg1071Lys Missense 6/8 -
19-41387647-A-G CYP2A7 c.190+279T>C - IntronicSNV - 1/7
2-111430350-C-T BUB1 c.310G>A p.Ala104Thr Missense 4/25 -
17-41931375-A-G CD300LG c.682A>G p.Thr228Ala Missense 4/7 -
2-111423963-CCT-CAT BUB1 c.832_834delAGGinsCAT p.Arg278His Missense 9/25 -
20-44352620-G-A SPINT4 c.217G>A p.Gly73Ser Missense 2/3 -
19-38378539-G-C WDR87 c.5655C>G p.Asn1885Lys Missense 6/6 -
12-40657700-C-A LRRK2 c.1653C>A p.Asn551Lys Missense 14/51 -
12-40657700-C-G LRRK2 c.1653C>G p.Asn551Lys Missense 14/51 -
3-9426224-G-A THUMPD3 c.1376G>A p.Arg459Gln Missense 10/10 -
21-38494273-C-G TTC3 c.1057C>G p.Leu353Val Missense 12/46 -
14-105246468-CATC-C AKT1 c.131_133delATG p.Asp44delAsp InFrameDeletion 3/14 -
4-74315092-GTC-ATG AFP c.1099_1101delGTCinsATG p.Val367Met Missense 9/15 -
7-129663496-C-A ZC3HC1 c.1088G>T p.Arg363Leu Missense 8/10 -
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
12-53004603-G-C KRT73 c.1127C>G p.Thr376Arg Missense 7/9 -
8-124206324-G-T FAM83A c.709G>T p.Ala237Ser Missense 4/5 -
20-32266134-C-T E2F1 c.598G>A p.Gly200Ser Missense 4/7 -
11-1264183-G-A MUC5B c.6073G>A p.Ala2025Thr Missense 31/49 -
1-207782707-A-G CR1 c.4619A>G p.Asn1540Ser Missense 29/39 -
2-112751928-G-A MERTK c.1397G>A p.Arg466Lys Missense 9/19 -
2-112751928-G-C MERTK c.1397G>C p.Arg466Thr Missense 9/19 -
19-10668673-A-G KRI1 c.1334T>C - missense_variant 14/19 -
4-110862149-A-G EGF c.175A>G p.Ile59Val Missense 2/23 -
19-9056989-C-A MUC16 c.30457G>T p.Glu10153* Nonsense 3/84 -
11-8752598-G-C ST5 c.239C>G p.Pro80Arg Missense 6/23 -
19-9074073-G-T MUC16 c.13373C>A p.Pro4458His Missense 3/84 -
19-9074073-G-A MUC16 c.13373C>T p.Pro4458Leu Missense 3/84 -
4-74313236-G-A AFP c.901G>A p.Glu301Lys Missense 8/15 -
1-157062739-C-G ETV3L c.788G>C p.Gly263Ala Missense 5/5 -
19-50862768-C-T NAPSA c.928G>A p.Ala310Thr Missense 7/9 -
5-52780090-TC-GG FST c.688_689delTCinsGG p.Ser230Gly Missense 4/6 -
7-116371903-G-A MET c.1382G>A p.Arg461His Missense 3/21 -
7-116339271-A-G MET c.133A>G p.Asn45Asp Missense 2/21 -
20-30064331-A-G REM1 c.83A>G p.His28Arg Missense 2/5 -
19-3000655-C-T TLE2 c.2114G>A p.Ser705Asn Missense 19/20 -
17-7573988-C-T TP53 c.1039G>A p.Ala347Thr Missense 10/11 -
5-140563579-C-G PCDHB16 c.1445C>G p.Thr482Ser Missense 1/1 -
17-37840860-G-A PGAP3 c.422C>T p.Ala141Val Missense 3/8 -
17-7579482-C-A TP53 c.205G>T p.Ala69Ser Missense 4/11 -
8-124206324-G-A FAM83A c.709G>A p.Ala237Thr Missense 4/5 -
15-50226359-G-C ATP8B4 c.1308C>G p.Phe436Leu Missense 15/28 -
6-147136212-A-T ADGB c.4863A>T p.Glu1621Asp Missense 36/36 -
6-147136212-A-C ADGB c.4863A>C p.Glu1621Asp Missense 36/36 -
2-98373842-A-T TMEM131 c.5372T>A p.Val1791Asp Missense 41/41 -
17-74387284-C-T UBE2O c.3619G>A p.Gly1207Ser Missense 18/18 -
19-50862768-C-A NAPSA c.928G>T p.Ala310Ser Missense 7/9 -
19-1058176-A-G ABCA7 c.5057A>G p.Gln1686Arg Missense 37/47 -
2-191354491-T-C MFSD6 c.1793-3T>C - IntronicSNV - 5/7
3-50645125-GAC-ATG CISH c.688_690delGTCinsATG p.Val230Met Missense 3/3 -
12-21329738-A-T SLCO1B1 c.388A>T p.Asn130Tyr Missense 5/15 -
13-23907909-A-G SACS c.10106T>C p.Val3369Ala Missense 10/10 -
4-95561457-C-T PDLIM5 c.812C>T p.Ala271Val Missense 9/13 -
13-23907909-A-C SACS c.10106T>G p.Val3369Gly Missense 10/10 -
5-52780093-A-C FST c.691A>C p.Ile231Leu Missense 4/6 -
5-52780093-A-G FST c.691A>G p.Ile231Val Missense 4/6 -
17-38547868-C-T TOP2A c.4157G>A p.Gly1386Asp Missense 33/35 -
12-55886489-T-G OR6C68 c.328T>G p.Phe110Val Missense 1/1 -
12-55886489-T-A OR6C68 c.328T>A p.Phe110Ile Missense 1/1 -
2-187692983-T-C ZSWIM2 c.1630A>G p.Met544Val Missense 9/9 -
19-9060085-C-A MUC16 c.27361G>T p.Ala9121Ser Missense 3/84 -
3-187088812-C-G RTP4 c.392C>G p.Thr131Arg Missense 2/2 -
3-187088812-C-T RTP4 c.392C>T p.Thr131Met Missense 2/2 -
1-153277423-C-T PGLYRP3 c.376G>A p.Gly126Ser Missense 3/7 -
7-116399447-G-T MET c.2267G>T p.Gly756Val Missense 10/21 -
10-104638723-T-C AS3MT c.860T>C p.Met287Thr Missense 9/11 -
5-140168070-A-G PCDHA1 c.2195A>G p.Tyr732Cys Missense 1/4 -
6-165706935-C-G C6orf118 c.1087G>C p.Val363Leu Missense 6/9 -
6-117086378-C-A FAM162B c.213G>T p.Gln71His Missense 2/4 -
15-76017452-C-T ODF3L1 c.122C>T p.Pro41Leu Missense 2/4 -
6-117086378-C-G FAM162B c.213G>C p.Gln71His Missense 2/4 -
6-117086378-C-T FAM162B c.213G>A p.Gln71Gln Synonymous 2/4 -
8-6338306-C-A MCPH1 c.2045C>A p.Thr682Asn Missense 11/14 -
5-140203432-C-T PCDHA1 c.2394+35163C>T - IntronicSNV - 1/3
12-18649057-C-T PIK3C2G c.2732C>T p.Pro911Leu Missense 20/32 -
8-6338306-C-G MCPH1 c.2045C>G p.Thr682Ser Missense 11/14 -
21-30341891-A-G LTN1 c.1208T>C - missense_variant 9/30 -
22-32110163-G-A PRR14L c.3662C>T p.Ser1221Leu Missense 4/9 -
22-32110163-G-C PRR14L c.3662C>G p.Ser1221Trp Missense 4/9 -
16-11785354-C-A TXNDC11 c.1692G>T p.Met564Ile Missense 8/12 -
16-11785354-C-G TXNDC11 c.1692G>C p.Met564Ile Missense 8/12 -
15-42602621-C-G GANC c.863C>G p.Ser288Trp Missense 9/24 -
6-138584685-T-C ARFGEF3 c.2065T>C p.Ser689Pro Missense 12/34 -
17-56277684-C-T EPX c.1636C>T p.Arg546Trp Missense 10/13 -
22-32506050-C-G SLC5A1 c.1845C>G p.His615Gln Missense 15/15 -
7-116339934-A-T MET c.796A>T p.Arg266Trp Missense 2/21 -
17-74287389-T-C QRICH2 c.2921A>G p.His974Arg Missense 4/19 -
16-11836429-C-T TXNDC11 c.158G>A p.Arg53His Missense 1/12 -
6-4116262-G-A C6orf201 c.285-5921G>A - IntronicSNV - 3/5
6-4116262-G-C C6orf201 c.285-5921G>C - IntronicSNV - 3/5
7-116339397-GGG-AGC MET c.259_261delGGGinsAGC p.Gly87Ser Missense 2/21 -
6-24551664-T-C KIAA0319 c.3038A>G p.Tyr1013Cys Missense 20/21 -
1-228402121-A-C OBSCN c.1505A>C p.Gln502Pro Missense 4/81 -
16-81208515-G-A PKD1L2 c.2588C>T p.Ala863Val Missense 16/18 -
11-66834233-G-A RHOD c.245G>A p.Arg82Gln Missense 3/5 -
22-41551067-G-A EP300 c.3211G>A p.Glu1071Lys Missense 17/31 -
15-85341859-G-C ZNF592 c.2777G>C p.Ser926Thr Missense 8/11 -
13-25075864-T-C PARP4 c.241A>G p.Ile81Val Missense 3/34 -
19-5832209-G-A FUT6 c.370C>T p.Pro124Ser Missense 3/3 -
10-51748684-G-A AGAP6 c.209G>A p.Arg70Gln Missense 1/8 -
9-113457799-A-G MUSK c.475A>G p.Ser159Gly Missense 4/14 -
9-113457799-A-C MUSK c.475A>C p.Ser159Arg Missense 4/14 -
12-28412372-G-A CCDC91 c.106G>A p.Ala36Thr Missense 3/13 -
8-17731611-T-C FGL1 c.419A>G p.Tyr140Cys Missense 5/8 -
10-14974905-T-C DCLRE1C c.383A>G p.His128Arg Missense 8/13 -
16-11785354-C-T TXNDC11 c.1692G>A p.Met564Ile Missense 8/12 -
14-105237160-C-T AKT1 c.1285G>A p.Val429Ile Missense 13/14 -
15-42602621-C-T GANC c.863C>T p.Ser288Leu Missense 9/24 -
6-138584685-T-G ARFGEF3 c.2065T>G p.Ser689Ala Missense 12/34 -
4-110925731-AG-CA EGF c.3121_3122delAGinsCA p.Arg1041Gln Missense 21/23 -
17-63683-G-A RPH3AL c.908C>T p.Ala303Val Missense 10/10 -
22-32506050-C-T SLC5A1 c.1845C>T p.His615His Synonymous 15/15 -
14-81297635-A-G CEP128 c.1061T>C p.Val354Ala Missense 13/25 -
19-9362443-C-A OR7E24 c.724C>A p.Pro242Thr Missense 1/1 -
6-131996248-T-C ENPP3 c.791T>C p.Leu264Ser Missense 9/25 -
4-95506783-AG-CC PDLIM5 c.451_452delAGinsCC p.Ser151Pro Missense 6/13 -
3-50645445-G-T CISH c.370C>A p.Arg124Ser Missense 3/3 -
19-49949652-G-A PIH1D1 c.860C>T p.Pro287Leu Missense 9/9 -
19-49949652-G-T PIH1D1 c.860C>A p.Pro287Gln Missense 9/9 -
8-131124559-T-C ASAP1 c.2182A>G p.Ile728Val Missense 24/30 -
16-81208515-G-T PKD1L2 c.2588C>A p.Ala863Glu Missense 16/18 -
17-47587819-C-T NGFR c.614C>T p.Ser205Leu Missense 4/6 -
20-42331457-A-G MYBL2 c.1279A>G p.Ser427Gly Missense 8/14 -
19-3821408-G-A ZFR2 c.1561C>T p.Arg521Cys Missense 10/19 -
4-110862208-C-G EGF c.234C>G p.Ile78Met Missense 2/23 -
13-21205192-G-A IFT88 c.1337G>A p.Ser446Asn Missense 16/26 -
16-11785590-C-A TXNDC11 c.1456G>T p.Ala486Ser Missense 8/12 -
17-6406883-C-T PITPNM3 c.238G>A p.Ala80Thr Missense 4/20 -
2-26798893-A-G C2orf70 c.198A>G p.Gln66Gln Synonymous 2/4 -
17-64210757-C-A APOH c.796G>T p.Val266Leu Missense 7/8 -
17-64210757-C-G APOH c.796G>C p.Val266Leu Missense 7/8 -
1-111861974-T-C CHIA c.578T>C p.Phe193Ser Missense 9/10 -
8-39873053-G-A IDO2 c.1195G>A p.Ala399Thr Missense 11/11 -
2-224856633-C-A SERPINE2 c.572G>T p.Gly191Val Missense 4/9 -
15-40707652-G-A IVD c.850G>A p.Ala284Thr Missense 8/11 -
2-1271230-A-T SNTG2 c.1171A>T p.Ile391Phe Missense 14/17 -
14-68193731-G-A RDH12 c.482G>A p.Arg161Gln Missense 7/9 -
2-1271230-A-G SNTG2 c.1171A>G p.Ile391Val Missense 14/17 -
15-40705232-G-A IVD c.649G>A p.Gly217Arg Missense 6/11 -
14-59112732-C-T DACT1 c.1391C>T p.Ala464Val Missense 4/4 -
15-40705232-G-C IVD c.640G>C p.Gly217Arg Missense 6/11 -
20-43851375-G-C SEMG2 c.1102G>C p.Gly368Arg Missense 2/3 -
17-56584508-T-A MTMR4 c.838A>T p.Ser280Cys Missense 9/19 -
15-84442272-T-C ADAMTSL3 c.190-3T>C - IntronicSNV - 3/29
15-57925836-C-T GCOM1 c.830C>T p.Ala277Val Missense 8/14 -
17-48625928-C-G SPATA20 c.310C>G p.Gln104Glu Missense 4/17 -
1-212274358-TC-AA DTL c.2026_2027delTCinsAA p.Ser676Asn Missense 14/15 -
1-157504422-C-T FCRL5 c.1663G>A p.Val555Met Missense 8/17 -
10-6002368-T-G IL15RA c.545A>C p.Asn182Thr Missense 4/7 -
16-11792027-A-G TXNDC11 c.1061T>C p.Phe354Ser Missense 7/12 -
19-11508177-G-A RGL3 c.1861C>T p.Arg621Cys Missense 17/19 -
19-21606429-G-T ZNF493 c.584G>T p.Cys195Phe Missense 2/2 -
2-111399362-G-A BUB1 c.2482C>T p.Pro828Ser Missense 21/25 -
15-42982340-C-G STARD9 c.8564C>G p.Thr2855Ser Missense 23/33 -
1-212273668-TCA-AAC DTL c.1336_1338delTCAinsAAC p.Ser446Asn Missense 14/15 -
22-42912097-C-T RRP7A c.262G>A p.Val88Ile Missense 3/7 -
22-39918175-A-G ATF4 c.624A>G p.Ile208Met Missense 2/2 -
19-48806094-C-T CCDC114 c.986G>A p.Arg329His Missense 10/14 -
1-149858028-T-C HIST2H2BE c.163A>G p.Ile55Val Missense 1/1 -
19-9362297-C-T OR7E24 c.578C>T p.Ser193Phe Missense 1/1 -
1-111862952-T-G CHIA c.812T>G p.Val271Gly Missense 10/10 -
1-175092707-C-T TNN c.2822C>T p.Thr941Met Missense 12/19 -
8-81733727-C-A ZNF704 c.103G>T p.Ala35Ser Missense 2/9 -
2-205969220-G-A PARD3B c.575G>A p.Arg192Lys Missense 5/22 -
16-11836403-G-A TXNDC11 c.184C>T p.Arg62Trp Missense 1/12 -
6-165703523-C-T C6orf118 c.1154G>A p.Arg385Gln Missense 7/9 -
4-95497115-T-C PDLIM5 c.313T>C p.Ser105Pro Missense 5/13 -
17-45917605-T-C SCRN2 c.308A>G p.Lys103Arg Missense 3/8 -
6-121577370-T-A TBC1D32 c.1795A>T p.Ile599Leu Missense 16/32 -
6-32634369-C-A HLA-DQB1 c.16G>T p.Ala6Ser Missense 1/5 -
7-116339873-C-G MET c.735C>G p.Tyr245* Nonsense 2/21 -
7-116339873-C-A MET c.735C>A p.Tyr245* Nonsense 2/21 -
15-42982340-C-T STARD9 c.8564C>T p.Thr2855Ile Missense 23/33 -
22-42912097-C-G RRP7A c.262G>C p.Val88Leu Missense 3/7 -
19-48806094-C-G CCDC114 c.986G>C p.Arg329Pro Missense 10/14 -
19-48806094-C-A CCDC114 c.986G>T p.Arg329Leu Missense 10/14 -
20-3285140-T-C C20orf194 c.1729A>G p.Arg577Gly Missense 21/37 -
19-15853080-G-A OR10H3 c.878G>A p.Ser293Asn Missense 1/1 -
2-231072709-C-T SP110 c.895G>A p.Gly299Arg Missense 8/19 -
4-110890187-CGA-TGG EGF c.1636_1638delCGAinsTGG p.Arg546Trp Missense 11/23 -
19-8979223-G-C MUC16 c.42148C>G p.Pro14050Ala Missense 71/84 -
19-38056763-C-T ZNF571 c.567G>A p.Gln189Gln Synonymous 4/4 -
19-38056763-C-G ZNF571 c.567G>C p.Gln189His Missense 4/4 -
19-38056763-C-A ZNF571 c.567G>T p.Gln189His Missense 4/4 -
22-45258351-C-G PRR5-ARHGAP8 c.1544C>G p.Ala515Gly Missense 15/15 -
4-95494544-G-C PDLIM5 c.291G>C p.Lys97Asn Missense 4/13 -
4-95494544-G-T PDLIM5 c.291G>T p.Lys97Asn Missense 4/13 -
22-39917515-A-C ATF4 c.65A>C p.Gln22Pro Missense 1/2 -
4-95506773-C-A PDLIM5 c.441C>A p.His147Gln Missense 6/13 -
19-49658367-C-T HRC c.128G>A p.Ser43Asn Missense 1/6 -
17-28505174-A-G NSRP1 c.257A>G p.Lys86Arg Missense 4/7 -
17-28505174-A-C NSRP1 c.257A>C p.Lys86Thr Missense 4/7 -
5-52776628-CGC-AAG FST c.7_9delCGCinsAAG p.Arg3Lys Missense 1/6 -
4-74318161-CT-TG AFP c.1472_1473delCTinsTG p.Thr491Met Missense 12/15 -
15-40915190-A-G KNL1 c.2728A>G p.Arg910Gly Missense 10/26 -
17-56277684-C-G EPX c.1636C>G p.Arg546Gly Missense 10/13 -
17-39458476-A-T KRTAP29-1 c.628T>A p.Cys210Ser Missense 1/1 -
2-24435599-G-A ITSN2 c.4009C>T p.Arg1337Trp Missense 33/40 -
10-126686637-T-C CTBP2 c.461A>G p.Gln154Arg Missense 6/11 -
10-126681855-T-C CTBP2 c.955A>G p.Thr319Ala Missense 9/11 -
14-105239650-C-G AKT1 c.895G>C p.Gly299Arg Missense 10/14 -
20-9547018-C-G PAK5 c.1004G>C p.Arg335Pro Missense 6/11 -
22-41513418-G-A EP300 c.322G>A p.Ala108Thr Missense 2/31 -
1-9017204-A-G CA6 c.268A>G p.Ser90Gly Missense 3/8 -
7-150217309-C-G GIMAP7 c.247C>G p.Arg83Gly Missense 2/2 -
22-41548008-A-G EP300 c.2989A>G p.Ile997Val Missense 15/31 -
2-24524958-C-T ITSN2 c.871G>A p.Val291Ile Missense 10/40 -
9-102677589-T-C STX17 c.68T>C p.Ile23Thr Missense 2/8 -
11-32781773-T-C CCDC73 c.17A>G p.Asn6Ser Missense 2/18 -
6-131999064-G-C ENPP3 c.995G>C p.Gly332Ala Missense 11/25 -
14-105239694-T-C AKT1 c.851A>G p.Lys284Arg Missense 10/14 -
9-18829952-A-G ADAMTSL1 c.4226A>G p.Asp1409Gly Missense 23/29 -
1-173516871-G-C SLC9C2 c.1514C>G p.Ala505Gly Missense 13/28 -
22-41525915-GA-AT EP300 c.1190_1191delGAinsAT p.Arg397His Missense 5/31 -
2-111414657-T-G BUB1 c.1654A>C p.Thr552Pro Missense 15/25 -
10-129911856-C-A MKI67 c.1491G>T p.Glu497Asp Missense 8/15 -
10-129911856-C-G MKI67 c.1491G>C p.Glu497Asp Missense 8/15 -
9-108366734-G-A FKTN c.608G>A p.Arg203Gln Missense 5/10 -
10-126686566-T-C CTBP2 c.532A>G p.Ile178Val Missense 6/11 -
15-42681199-G-A CAPN3 c.706G>A p.Ala236Thr Missense 5/24 -
10-126681781-TCG-TGT CTBP2 c.1027_1029delCGAinsTGT p.Arg343Cys Missense 9/11 -
12-129559421-C-T TMEM132D c.2299G>A p.Val767Ile Missense 9/9 -
11-118405068-A-C TMEM25 c.1025A>C p.Gln342Pro Missense 8/9 -
5-52780929-C-G FST c.824C>G p.Pro275Arg Missense 5/6 -
14-54417522-A-G BMP4 c.455T>C p.Val152Ala Missense 4/4 -
5-52779543-AGA-TGG FST c.487_489delAGAinsTGG p.Arg163Trp Missense 3/6 -
19-9056989-C-G MUC16 c.30457G>C p.Glu10153Gln Missense 3/84 -
17-39967442-T-A P3H4 c.557A>T p.Gln186Leu Missense 2/8 -
17-39967442-T-C P3H4 c.557A>G p.Gln186Arg Missense 2/8 -
4-95561597-A-G PDLIM5 c.952A>G p.Ile318Val Missense 9/13 -
6-12122174-A-G HIVEP1 c.2146A>G p.Thr716Ala Missense 4/9 -
17-39742807-C-T KRT14 c.280G>A p.Ala94Thr Missense 1/8 -
16-11836459-GA-AA TXNDC11 c.127_128delTCinsAA p.Ser43Asn Missense 1/12 -
15-76496232-G-C TMEM266 c.1172G>C p.Arg391Pro Missense 11/11 -
17-505129-A-G VPS53 c.1037T>C p.Leu346Pro Missense 11/18 -
22-30888527-C-T SEC14L4 c.598G>A p.Val200Met Missense 8/12 -
10-50667105-T-C ERCC6 c.4238A>G p.Gln1413Arg Missense 21/21 -
8-124121749-A-G TBC1D31 c.1325A>G p.Glu442Gly Missense 10/22 -
8-17924739-A-G ASAH1 c.420T>C p.Asp140Asp Synonymous 5/14 -
14-105239808-A-C AKT1 c.812T>G p.Val271Gly Missense 9/14 -
8-17924739-A-T ASAH1 c.420T>A p.Asp140Glu Missense 5/14 -
17-61623052-C-T KCNH6 c.2774C>T p.Thr925Met Missense 14/14 -
19-8176640-C-G FBN3 c.3976G>C p.Val1326Leu Missense 32/64 -
2-228135631-C-A COL4A3 c.1721C>A p.Pro574Gln Missense 25/52 -
2-228135631-C-T COL4A3 c.1721C>T p.Pro574Leu Missense 25/52 -
9-135042352-G-A NTNG2 c.134G>A p.Arg45His Missense 2/8 -
8-52233408-C-T PXDNL c.4196G>A p.Arg1399Lys Missense 22/23 -
6-33048461-T-A HLA-DPB1 c.113T>A p.Phe38Tyr Missense 2/6 -
9-140267490-G-A EXD3 c.329C>T p.Ala110Val Missense 5/22 -
9-140267490-G-C EXD3 c.329C>G p.Ala110Gly Missense 5/22 -
17-7578401-G-A TP53 c.529C>T p.Pro177Ser Missense 5/11 -
16-11836428-AC-AA TXNDC11 c.158_159delGTinsAA p.Arg53Gln Missense 1/12 -
17-33680811-C-T SLFN11 c.1466G>A p.Arg489His Missense 4/5 -
9-130495633-C-A TOR2A c.624G>T p.Trp208Cys Missense 3/3 -
9-130495633-C-T TOR2A c.624G>A p.Trp208* Nonsense 3/3 -
19-15918802-C-G OR10H1 c.46G>C p.Gly16Arg Missense 1/1 -
7-139026152-T-A FMC1 c.22T>A p.Ser8Thr Missense 1/2 -
16-84256619-C-T KCNG4 c.764G>A p.Cys255Tyr Missense 3/3 -
17-4689572-T-C VMO1 c.76A>G p.Thr26Ala Missense 1/3 -
17-36486004-T-C GPR179 c.3448A>G p.Lys1150Glu Missense 11/11 -
11-76919478-C-G MYO7A c.5860C>G p.Leu1954Val Missense 43/49 -
3-119379186-C-T POPDC2 c.85G>A p.Val29Ile Missense 1/4 -
15-81598269-T-G IL16 c.3441T>G p.Asn1147Lys Missense 17/19 -
11-66837957-CT-TG RHOD c.392_393delCTinsTG p.Thr131Met Missense 4/5 -
18-19154143-G-A ESCO1 c.662C>T p.Thr221Met Missense 4/12 -
6-32629129-T-C HLA-DQB1 c.767A>G p.Gln256Arg Missense 4/5 -
19-49658209-A-C HRC c.286T>G p.Ser96Ala Missense 1/6 -
6-131974015-TC-GG ENPP3 c.448_449delTCinsGG p.Ser150Gly Missense 5/25 -
21-16339172-G-C NRIP1 c.1342C>G p.Arg448Gly Missense 4/4 -
17-33513337-T-A UNC45B c.2555T>A p.Ile852Asn Missense 19/19 -
9-130475442-A-C CFAP157 c.1448A>C p.Tyr483Ser Missense 8/9 -
2-26679362-G-A DRC1 c.2200G>A p.Val734Met Missense 17/17 -
15-85188839-C-T WDR73 c.746G>A p.Arg249His Missense 7/8 -
8-17612875-A-C MTUS1 c.442T>G p.Cys148Gly Missense 2/15 -
8-17612875-A-T MTUS1 c.442T>A p.Cys148Ser Missense 2/15 -
12-132399004-C-G ULK1 c.1355C>G p.Thr452Ser Missense 16/28 -
1-227216775-C-G CDC42BPA c.3667G>C p.Val1223Leu Missense 28/35 -
1-227216775-C-A CDC42BPA c.3667G>T p.Val1223Leu Missense 28/35 -
1-227216775-C-T CDC42BPA c.3667G>A p.Val1223Ile Missense 28/35 -
6-131958592-T-C ENPP3 c.68T>C p.Ile23Thr Missense 1/25 -
1-156347834-T-A RHBG c.221T>A p.Val74Asp Missense 4/12 -
1-156347834-T-C RHBG c.221T>C p.Val74Ala Missense 4/12 -
19-9084299-T-C MUC16 c.7516A>G p.Thr2506Ala Missense 1/84 -
20-23345243-A-T GZF1 c.223A>T p.Thr75Ser Missense 2/6 -
17-7578385-C-G TP53 c.545G>C p.Cys182Ser Missense 5/11 -
5-118860938-T-C HSD17B4 c.1531T>C p.Trp511Arg Missense 18/24 -
11-6891605-A-G OR10A2 c.620A>G p.His207Arg Missense 1/1 -
19-9046876-G-T MUC16 c.34755C>A p.Ser11585Arg Missense 5/84 -
1-222803204-A-G MIA3 c.2642A>G p.Glu881Gly Missense 4/28 -
12-11149711-C-A TAS2R20 c.764G>T p.Arg255Leu Missense 1/1 -
16-84035446-C-T NECAB2 c.1057C>T p.Leu353Leu Synonymous 12/13 -
7-47436435-C-T TNS3 c.986G>A p.Arg329His Missense 16/31 -
16-84035446-C-G NECAB2 c.1057C>G p.Leu353Val Missense 12/13 -
16-84035446-C-A NECAB2 c.1057C>A p.Leu353Met Missense 12/13 -
7-47436435-C-G TNS3 c.986G>C p.Arg329Pro Missense 16/31 -
7-47436435-C-A TNS3 c.986G>T p.Arg329Leu Missense 16/31 -
22-26159289-G-A MYO18B c.131G>A p.Gly44Glu Missense 3/44 -
22-51009953-C-T CPT1B c.1591G>A p.Glu531Lys Missense 14/20 -
4-110862147-G-C EGF c.173G>C p.Arg58Thr Missense 2/23 -
1-2938989-G-C ACTRT2 c.739G>C p.Gly247Arg Missense 1/1 -
1-2938989-G-A ACTRT2 c.739G>A p.Gly247Arg Missense 1/1 -
17-7577506-C-T TP53 c.775G>A p.Asp259Asn Missense 7/11 -
6-35923246-T-C SLC26A8 c.1915A>G p.Ile639Val Missense 17/20 -
17-7574023-C-G TP53 c.1004G>C p.Arg335Pro Missense 10/11 -
6-131962605-C-A ENPP3 c.89C>A p.Ala30Asp Missense 2/25 -
7-128394606-C-G CALU c.415+97C>G - IntronicSNV - 3/6
7-128394606-C-T CALU c.415+97C>T - IntronicSNV - 3/6
15-43023482-T-C CDAN1 c.1787A>G p.Gln596Arg Missense 12/28 -
6-32629129-T-G HLA-DQB1 c.767A>C p.Gln256Pro Missense 4/5 -
2-111416045-G-C BUB1 c.1458C>G p.Asp486Glu Missense 13/25 -
2-29380087-G-T CLIP4 c.1273G>T p.Val425Phe Missense 11/16 -
9-136029645-G-A GBGT1 c.363C>T p.Tyr121Tyr Synonymous 7/7 -
8-22428658-T-C SORBS3 c.1667T>C p.Ile556Thr Missense 18/21 -
6-106536253-G-A PRDM1 c.220G>A p.Gly74Ser Missense 2/7 -
11-66833406-C-G RHOD c.172C>G p.Leu58Val Missense 2/5 -
10-50098739-G-C WDFY4 c.7283G>C p.Gly2428Ala Missense 44/62 -
19-1045173-G-C ABCA7 c.1388G>C p.Arg463Pro Missense 12/47 -
1-114680310-G-A SYT6 c.623C>T p.Thr208Ile Missense 3/8 -
17-40996656-A-G AOC2 c.13A>G p.Ile5Val Missense 1/4 -
4-168155178-A-G SPOCK3 c.147T>C p.Ser49Ser Synonymous 2/11 -
15-76496232-G-A TMEM266 c.1172G>A p.Arg391His Missense 11/11 -
2-160885418-G-C PLA2R1 c.898C>G p.His300Asp Missense 5/27 -
6-132067992-G-A ENPP3 c.2524G>A p.Val842Ile Missense 25/25 -
1-152323132-G-T FLG2 c.7130C>A p.Ser2377* Nonsense 3/3 -
12-11174795-T-G TAS2R19 c.376A>C p.Lys126Gln Missense 1/1 -
11-108381247-C-T EXPH5 c.4987G>A p.Gly1663Arg Missense 6/6 -
1-152323132-G-A FLG2 c.7130C>T p.Ser2377Leu Missense 3/3 -
3-175473047-T-G NAALADL2 c.2030T>G p.Leu677* Nonsense 13/14 -
4-1165748-T-C SPON2 c.112A>G p.Arg38Gly Missense 3/7 -
15-40705196-C-A IVD c.613C>A p.Pro205Thr Missense 6/11 -
6-4133855-C-A ECI2 c.51G>T p.Met17Ile Missense 2/10 -
2-44028013-A-T DYNC2LI1 c.688A>T p.Ile230Leu Missense 9/13 -
6-4133855-C-T ECI2 c.51G>A p.Met17Ile Missense 2/10 -
14-68193731-G-C RDH12 c.482G>C p.Arg161Pro Missense 7/9 -
12-11338957-A-G TAS2R42 c.587T>C p.Phe196Ser Missense 1/1 -
7-158536267-T-C ESYT2 c.1684A>G - missense_variant 16/22 -
15-85198606-C-T NMB c.365G>A - Synonymous 3/3 -
4-74308039-A-G AFP c.509A>G p.His170Arg Missense 5/15 -
17-72927123-G-C OTOP2 c.1393G>C p.Gly465Arg Missense 6/7 -
17-72927123-G-A OTOP2 c.1393G>A p.Gly465Arg Missense 6/7 -
22-41513499-A-G EP300 c.403A>G p.Asn135Asp Missense 2/31 -
2-224847402-TA-AC SERPINE2 c.980_981delTAinsAC p.Ile327Asn Missense 6/9 -
22-36587280-A-G APOL4 c.897T>C p.Pro299Pro Synonymous 6/6 -
21-31768847-G-A KRTAP13-1 c.443G>A p.Arg148His Missense 1/1 -
2-111416299-C-T BUB1 c.1297G>A p.Ala433Thr Missense 12/25 -
7-116398524-G-A MET c.2114G>A p.Ser705Asn Missense 9/21 -
17-33286664-A-C CCT6B c.143T>G p.Val48Gly Missense 2/14 -
17-33286664-A-G CCT6B c.143T>C p.Val48Ala Missense 2/14 -
11-6007772-G-A OR52L1 c.389C>T p.Ser130Leu Missense 1/1 -
17-72927123-G-T OTOP2 c.1393G>T p.Gly465Trp Missense 6/7 -
20-17950545-A-T MGME1 c.43A>T p.Ser15Cys Missense 2/5 -
3-128204951-C-T GATA2 c.490G>A p.Ala164Thr Missense 3/6 -
3-186445052-T-G KNG1 c.591T>G p.Ile197Met Missense 5/10 -
20-35441225-G-T SOGA1 c.1625C>A p.Pro542Gln Missense 6/15 -
15-74473739-C-T STRA6 c.1581G>A p.Met527Ile Missense 17/19 -
10-102684380-C-A SLF2 c.1622C>A p.Ser541Tyr Missense 5/19 -
2-219755011-T-A WNT10A c.682T>A p.Phe228Ile Missense 3/4 -
4-110865041-G-A EGF c.553G>A p.Ala185Thr Missense 4/23 -
15-40703882-G-A IVD c.598G>A p.Val200Met Missense 5/11 -
1-152331240-G-A FLG2 c.121C>T p.Leu41Phe Missense 2/3 -
1-220344453-T-C RAB3GAP2 c.2587A>G p.Thr863Ala Missense 24/35 -
7-158590740-A-T ESYT2 c.400T>A - missense_variant 3/22 -
12-59274489-C-A LRIG3 c.1675G>T p.Val559Leu Missense 13/19 -
19-9088330-G-A MUC16 c.3485C>T p.Thr1162Ile Missense 1/84 -
4-95561433-CC-GG PDLIM5 c.788_789delCCinsGG p.Ser263Trp Missense 9/13 -
17-80280054-A-C SECTM1 c.730T>G p.Tyr244Asp Missense 5/5 -
2-224862933-CT-CA SERPINE2 c.385_386delAGinsCA p.Arg129Gln Missense 3/9 -
17-80280054-A-G SECTM1 c.730T>C p.Tyr244His Missense 5/5 -
1-180886140-C-A KIAA1614 c.901C>A p.Arg301Ser Missense 2/9 -
7-116339511-T-C MET c.373T>C p.Tyr125His Missense 2/21 -
17-4936898-C-T SLC52A1 c.886G>A p.Val296Met Missense 3/5 -
2-111414635-CT-TT BUB1 c.1675_1676delAGinsTT p.Ser559Phe Missense 15/25 -
1-112999339-A-G CTTNBP2NL c.1225A>G p.Ser409Gly Missense 6/6 -
21-33757947-A-T URB1 c.189T>A p.Asp63Glu Missense 2/39 -
10-105882765-A-G SFR1 c.17A>G p.Asp6Gly Missense 2/4 -
7-116339625-T-C MET c.487T>C p.Ser163Pro Missense 2/21 -
2-73679990-T-A ALMS1 c.6339T>A - missense_variant 8/23 -
16-11785853-G-A TXNDC11 c.1193C>T p.Ala398Val Missense 8/12 -
15-63433766-G-A LACTB c.1406G>A p.Arg469Lys Missense 6/6 -
22-43936219-C-T EFCAB6 c.3667G>A p.Glu1223Lys Missense 28/32 -
9-136269143-G-A STKLD1 c.1703G>A p.Arg568Gln Missense 16/18 -
9-136269143-G-C STKLD1 c.1703G>C p.Arg568Pro Missense 16/18 -
17-505129-A-C VPS53 c.1037T>G p.Leu346Arg Missense 11/18 -
12-21329738-A-G SLCO1B1 c.388A>G p.Asn130Asp Missense 5/15 -
20-24994289-C-T ACSS1 c.1462G>A p.Val488Met Missense 10/14 -
19-9062415-T-C MUC16 c.25031A>G p.Asp8344Gly Missense 3/84 -
6-131997916-T-A ENPP3 c.913T>A p.Trp305Arg Missense 10/25 -
17-7579401-A-C TP53 c.286T>G p.Ser96Ala Missense 4/11 -
3-50645511-C-T CISH c.304G>A p.Gly102Ser Missense 3/3 -
14-105236724-C-T AKT1 c.1397G>A p.Arg466Lys Missense 14/14 -
20-3090942-A-G UBOX5 c.1436T>C p.Leu479Pro Missense 5/5 -
19-2939401-C-G ZNF77 c.8G>C p.Cys3Ser Missense 2/4 -
7-116380079-GTG-ATC MET c.1468_1470delGTGinsATC p.Val490Ile Missense 4/21 -
22-42336172-G-A CENPM c.403-972C>T - IntronicSNV - 5/5
22-42336172-G-C CENPM c.403-972C>G - IntronicSNV - 5/5
15-40698066-C-T IVD c.47C>T p.Ala16Val Missense 1/11 -
2-111427030-C-G BUB1 c.567G>C p.Gln189His Missense 6/25 -
2-111427030-C-A BUB1 c.567G>T p.Gln189His Missense 6/25 -
19-2939401-C-T ZNF77 c.8G>A p.Cys3Tyr Missense 2/4 -
9-140267490-G-T EXD3 c.329C>A p.Ala110Glu Missense 5/22 -
10-126691933-G-T CTBP2 c.187C>A p.Gln63Lys Missense 4/11 -
7-150490376-C-T TMEM176B c.400G>A p.Ala134Thr Missense 5/7 -
6-12124855-G-A HIVEP1 c.4827G>A p.Met1609Ile Missense 4/9 -
14-105241511-C-T AKT1 c.469G>A p.Gly157Ser Missense 6/14 -
1-214826196-G-A CENPF c.8186G>A p.Arg2729Gln Missense 16/20 -
7-128363287-G-A FAM71F1 c.724G>A p.Glu242Lys Missense 4/7 -
2-170053505-C-G LRP2 c.8614G>C p.Ala2872Pro Missense 46/79 -
4-74310787-A-G AFP c.791A>G p.His264Arg Missense 7/15 -
7-116397756-T-C MET c.2030T>C p.Leu677Ser Missense 8/21 -
15-49293194-C-T SECISBP2L c.1993G>A p.Val665Ile Missense 14/17 -
15-49293194-C-A SECISBP2L c.1993G>T p.Val665Leu Missense 14/17 -
2-167313451-T-G SCN7A c.1219A>C p.Ile407Leu Missense 10/25 -
2-167313451-T-C SCN7A c.1219A>G p.Ile407Val Missense 10/25 -
19-5844792-A-C FUT3 c.59T>G p.Leu20Arg Missense 3/3 -
4-152682046-G-T GATB c.89C>A p.Ala30Asp Missense 1/13 -
6-32634313-C-G HLA-DQB1 c.72G>C p.Met24Ile Missense 1/5 -
16-11792101-CC-AT TXNDC11 c.986_987delGGinsAT p.Arg329His Missense 7/12 -
19-5844792-A-T FUT3 c.59T>A p.Leu20Gln Missense 3/3 -
19-5844792-A-G FUT3 c.59T>C p.Leu20Pro Missense 3/3 -
20-23731494-A-G CST1 c.10T>C p.Tyr4His Missense 1/3 -
12-60173356-A-T SLC16A7 c.1333A>T p.Thr445Ser Missense 5/5 -
1-145368461-A-C NBPF10 c.10658A>C - missense_variant 86/86 -
X-38226603-A-G OTC c.137A>G p.Lys46Arg Missense 2/10 -
6-131962625-C-G ENPP3 c.109C>G p.Leu37Val Missense 2/25 -
4-128741710-T-C HSPA4L c.1802T>C p.Ile601Thr Missense 14/19 -
4-95506825-AG-CA PDLIM5 c.493_494delAGinsCA p.Arg165Gln Missense 6/13 -
20-35441225-G-C SOGA1 c.1625C>G p.Pro542Arg Missense 6/15 -
20-35441225-G-A SOGA1 c.1625C>T p.Pro542Leu Missense 6/15 -
4-95561516-G-A PDLIM5 c.871G>A p.Asp291Asn Missense 9/13 -
2-111431775-A-T BUB1 c.113T>A p.Phe38Tyr Missense 3/25 -
6-165713917-C-T C6orf118 c.812G>A p.Gly271Glu Missense 3/9 -
22-44368122-A-G SAMM50 c.329A>G p.Asp110Gly Missense 5/15 -
9-136279935-C-T REXO4 c.244G>A p.Gly82Arg Missense 2/6 -
16-11836566-GCG-TGG TXNDC11 c.19_21delCGCinsTGG p.Arg7Trp Missense 1/12 -
7-116339889-C-T MET c.751C>T p.His251Tyr Missense 2/21 -
2-239237953-G-A TRAF3IP1 c.885G>A p.Lys295Lys Synonymous 5/17 -
2-239237953-G-T TRAF3IP1 c.885G>T p.Lys295Asn Missense 5/17 -
14-105239908-G-C AKT1 c.712C>G p.His238Asp Missense 9/14 -
19-44793278-A-G ZNF235 c.310T>C p.Ser104Pro Missense 5/5 -
16-11785838-G-C TXNDC11 c.1208C>G p.Ser403Cys Missense 8/12 -
19-9086318-G-A MUC16 c.5497C>T p.Leu1833Phe Missense 1/84 -
4-74316459-G-C AFP c.1417G>C p.Gly473Arg Missense 11/15 -
11-5080844-T-C OR52E2 c.14A>G p.Asn5Ser Missense 1/1 -
11-43876698-C-T HSD17B12 c.839C>T p.Ser280Leu Missense 11/11 -
4-89625427-G-C HERC3 c.2836G>C p.Glu946Gln Missense 24/26 -
11-130275749-T-C ADAMTS8 c.2374A>G p.Thr792Ala Missense 9/9 -
19-6430106-C-T SLC25A41 c.430G>A p.Gly144Ser Missense 3/7 -
12-52284668-C-G ANKRD33 c.938C>G p.Thr313Ser Missense 5/5 -
12-52284668-C-A ANKRD33 c.938C>A p.Thr313Asn Missense 5/5 -
17-59667953-G-A NACA2 c.589C>T p.Arg197* Nonsense 1/1 -
1-208390469-C-T PLXNA2 c.799G>A p.Ala267Thr Missense 2/32 -
19-9058624-G-A MUC16 c.28822C>T p.Pro9608Ser Missense 3/84 -
19-9058624-G-T MUC16 c.28822C>A p.Pro9608Thr Missense 3/84 -
12-11149769-T-G TAS2R20 c.706A>C p.Ile236Leu Missense 1/1 -
12-20905250-C-T SLCO1C1 c.1927C>T p.Leu643Leu Synonymous 15/15 -
12-11149769-T-C TAS2R20 c.706A>G p.Ile236Val Missense 1/1 -
12-11149769-T-A TAS2R20 c.706A>T p.Ile236Leu Missense 1/1 -
1-179858444-G-A TOR1AIP1 c.554-4G>A - IntronicSNV - 2/9
1-216538391-C-A USH2A c.688G>T p.Val230Leu Missense 4/21 -
3-111710398-A-G ABHD10 c.751A>G p.Ile251Val Missense 5/5 -
1-216538391-C-T USH2A c.688G>A p.Val230Met Missense 4/21 -
10-115381747-G-A NRAP c.2545C>T p.Arg849Cys Missense 23/41 -
7-64864607-G-A ZNF92 c.1580G>A p.Arg527His Missense 4/4 -
2-224862949-C-G SERPINE2 c.370G>C p.Val124Leu Missense 3/9 -
2-224862949-C-A SERPINE2 c.370G>T p.Val124Leu Missense 3/9 -
2-224866420-C-G SERPINE2 c.198G>C p.Gln66His Missense 2/9 -
4-110883054-A-G EGF c.1225A>G p.Ser409Gly Missense 8/23 -
2-224866420-C-A SERPINE2 c.198G>T p.Gln66His Missense 2/9 -
16-84879464-A-G CRISPLD2 c.313A>G p.Ser105Gly Missense 3/15 -
16-81095091-A-G C16orf46 c.863T>C p.Ile288Thr Missense 4/4 -
4-110901146-C-T EGF c.2072C>T p.Ala691Val Missense 14/23 -
11-66838936-GTG-ATC RHOD c.496_498delGTGinsATC p.Val166Ile Missense 5/5 -
14-105241995-G-T AKT1 c.429C>A p.His143Gln Missense 5/14 -
15-40702890-G-A IVD c.269G>A p.Arg90Gln Missense 3/11 -
19-14992031-A-G OR7A17 c.137T>C p.Ile46Thr Missense 1/1 -
2-191862645-C-T STAT1 c.722G>A p.Arg241Gln Missense 9/25 -
10-126678206-T-C CTBP2 c.1219A>G p.Ile407Val Missense 11/11 -
22-41522031-G-T EP300 c.893G>T p.Gly298Val Missense 3/31 -
10-25888180-A-G GPR158 c.3625A>G p.Ile1209Val Missense 11/11 -
3-113955164-T-G ZNF80 c.758A>C p.Asp253Ala Missense 1/1 -
20-44314609-A-G WFDC10B c.23T>C p.Leu8Pro Missense 3/4 -
17-43923180-G-C SPPL2C c.908G>C p.Arg303Pro Missense 1/1 -
2-111430392-A-G BUB1 c.268T>C p.Tyr90His Missense 4/25 -
12-133381403-G-A GOLGA3 c.1496C>T p.Ala499Val Missense 7/24 -
17-43923180-G-A SPPL2C c.908G>A p.Arg303His Missense 1/1 -
2-1460004-G-T TPO c.769G>T p.Ala257Ser Missense 7/17 -
2-183616913-A-C DNAJC10 c.1549A>C p.Met517Leu Missense 16/24 -
11-108384207-C-T EXPH5 c.2027G>A p.Ser676Asn Missense 6/6 -
2-1460004-G-A TPO c.769G>A p.Ala257Thr Missense 7/17 -
11-108384207-C-G EXPH5 c.2027G>C p.Ser676Thr Missense 6/6 -
14-105239650-C-T AKT1 c.895G>A p.Gly299Arg Missense 10/14 -
6-29911306-C-T HLA-A c.605C>T p.Thr202Met Missense 3/8 -
17-66538239-G-T FAM20A c.996C>A p.Asn332Lys Missense 7/11 -
17-66538239-G-C FAM20A c.996C>G p.Asn332Lys Missense 7/11 -
2-43625184-T-A THADA c.4153A>T p.Thr1385Ser Missense 29/38 -
9-136509370-G-T DBH c.952G>T p.Ala318Ser Missense 5/12 -
X-106396402-A-G NUP62CL c.530T>C p.Ile177Thr Missense 7/9 -
21-34003786-C-T SYNJ1 c.4358G>A p.Gly1453Glu Missense 32/32 -
20-36946848-G-A BPI c.634G>A - missense_variant 6/15 -
20-36946848-G-C BPI c.634G>C - missense_variant 6/15 -
17-33768601-G-T SLFN13 c.1903C>A p.Pro635Thr Missense 5/6 -
17-38450248-G-A CDC6 c.883G>A p.Asp295Asn Missense 6/12 -
1-212251534-C-T DTL c.1055C>T p.Pro352Leu Missense 12/15 -
12-132325239-G-T MMP17 c.544G>T p.Ala182Ser Missense 4/10 -
12-132325239-G-A MMP17 c.544G>A p.Ala182Thr Missense 4/10 -
8-52232487-G-T PXDNL c.4356C>A p.Asp1452Glu Missense 23/23 -
2-234761225-C-T HJURP c.226G>A p.Glu76Lys Missense 3/9 -
4-6606864-A-G MAN2B2 c.1622A>G p.Asn541Ser Missense 11/19 -
19-51728641-A-G CD33 c.205A>G p.Arg69Gly Missense 2/7 -
2-68607947-G-T PLEK c.291G>T p.Lys97Asn Missense 3/9 -
19-14910321-A-G OR7C1 c.628T>C p.Ser210Pro Missense 1/1 -
6-33037424-T-C HLA-DPA1 c.340A>G p.Thr114Ala Missense 2/5 -
6-33037424-T-A HLA-DPA1 c.340A>T p.Thr114Ser Missense 2/5 -
19-44057574-G-A XRCC1 c.580C>T p.Arg194Trp Missense 6/17 -
19-5843784-A-T FUT3 c.1067T>A p.Ile356Lys Missense 3/3 -
2-186667360-A-C FSIP2 c.13327A>C - missense_variant 17/23 -
4-126412106-C-G FAT4 c.14129C>G p.Ser4710Cys Missense 17/17 -
5-52779468-A-G FST c.412A>G p.Thr138Ala Missense 3/6 -
9-130475442-A-G CFAP157 c.1448A>G p.Tyr483Cys Missense 8/9 -
10-129899578-T-C MKI67 c.9649A>G p.Lys3217Glu Missense 14/15 -
7-56088825-T-A PSPH c.81A>T p.Arg27Ser Missense 4/8 -
14-105239896-C-T AKT1 c.724G>A p.Glu242Lys Missense 9/14 -
1-212240202-T-G DTL c.688T>G p.Leu230Val Missense 8/15 -
16-5139186-G-A EEF2KMT c.814C>T p.His272Tyr Missense 7/8 -
16-11830064-C-T TXNDC11 c.280G>A p.Ala94Thr Missense 2/12 -
15-40707090-G-A IVD c.706G>A p.Ala236Thr Missense 7/11 -
22-41553200-A-G EP300 c.3289A>G p.Met1097Val Missense 18/31 -
5-52776679-C-A FST c.58C>A p.Gln20Lys Missense 1/6 -
22-42522613-G-C CYP2D6 c.1457C>G p.Thr486Ser Missense 9/9 -
12-49312540-C-T CCDC65 c.880C>T p.Arg294Cys Missense 6/8 -
14-105239324-C-G AKT1 c.1063G>C p.Glu355Gln Missense 11/14 -
4-6303354-G-A WFS1 c.1832G>A p.Arg611His Missense 8/8 -
4-95539331-C-T PDLIM5 c.770C>T p.Pro257Leu Missense 8/13 -
2-224840619-C-T SERPINE2 c.1162G>A p.Ala388Thr Missense 9/9 -
11-6891113-A-G OR10A2 c.128A>G p.His43Arg Missense 1/1 -
2-111416302-C-G BUB1 c.1294G>C p.Val432Leu Missense 12/25 -
19-10403368-G-A ICAM5 c.1042G>A p.Ala348Thr Missense 5/11 -
6-132004197-A-G ENPP3 c.1015A>G p.Ile339Val Missense 12/25 -
3-50645195-T-C CISH c.620A>G p.His207Arg Missense 3/3 -
15-42373810-G-T PLA2G4D c.824C>A p.Pro275His Missense 11/20 -
19-50905074-G-A POLD1 c.356G>A p.Arg119His Missense 4/27 -
17-79668135-G-T HGS c.2197G>T p.Ala733Ser Missense 21/22 -
15-42373810-G-C PLA2G4D c.824C>G p.Pro275Arg Missense 11/20 -
14-105238769-T-G AKT1 c.1193A>C p.Asp398Ala Missense 12/14 -
2-24431184-C-T ITSN2 c.4600G>A p.Ala1534Thr Missense 37/40 -
2-24431184-C-A ITSN2 c.4600G>T p.Ala1534Ser Missense 37/40 -
11-76919478-C-A MYO7A c.5860C>A p.Leu1954Ile Missense 43/49 -
4-110932598-A-G EGF c.3488A>G p.Glu1163Gly Missense 23/23 -
15-40703478-T-C IVD c.395T>C p.Ile132Thr Missense 4/11 -
5-149212430-G-A PPARGC1B c.794G>A p.Arg265Gln Missense 5/12 -
12-46321514-A-T SCAF11 c.1970T>A p.Phe657Tyr Missense 11/15 -
2-111419315-T-C BUB1 c.1061A>G p.Asn354Ser Missense 10/25 -
3-125648356-T-C ALG1L c.403A>G p.Asn135Asp Missense 6/6 -
8-17612875-A-G MTUS1 c.442T>C p.Cys148Arg Missense 2/15 -
1-161761312-C-T ATF6 c.469C>T p.Pro157Ser Missense 5/16 -
6-131997916-T-C ENPP3 c.913T>C p.Trp305Arg Missense 10/25 -
11-6588228-G-A DNHD1 c.11489G>A p.Arg3830His Missense 36/43 -
16-11824518-A-G TXNDC11 c.682T>C p.Phe228Leu Missense 4/12 -
7-116380978-C-G MET c.1600C>G p.Pro534Ala Missense 5/21 -
3-186337713-T-C AHSG c.743T>C p.Met248Thr Missense 6/7 -
22-26157068-C-G MYO18B c.9C>G p.Ile3Met Missense 2/44 -
4-15709192-G-A BST1 c.374G>A p.Arg125His Missense 3/9 -
12-54109659-C-T CALCOCO1 c.1178G>A p.Arg393Lys Missense 9/15 -
11-77583266-G-A AAMDC c.274G>A p.Val92Met Missense 4/4 -
2-185801559-A-C ZNF804A c.1436A>C p.Asp479Ala Missense 4/4 -
15-45398438-T-C DUOX2 c.2033A>G p.His678Arg Missense 17/34 -
14-65053999-T-C PPP1R36 c.799T>C p.Phe267Leu Missense 10/12 -
19-49376584-G-T PPP1R15A c.94G>T p.Ala32Ser Missense 2/3 -
2-185801559-A-G ZNF804A c.1436A>G p.Asp479Gly Missense 4/4 -
12-55887087-G-A OR6C68 c.926G>A p.Arg309His Missense 1/1 -
2-234761225-C-G HJURP c.226G>C p.Glu76Gln Missense 3/9 -
1-111854895-G-A CHIA c.-61+555G>A - intron_variant - 3/9
1-212236249-G-A DTL c.484G>A p.Asp162Asn Missense 6/15 -
8-18729647-C-T PSD3 c.727G>A p.Val243Met Missense 3/16 -
2-237149941-C-T ASB18 c.310G>A p.Ala104Thr Missense 2/6 -
17-38955961-G-A KRT28 c.185C>T p.Ala62Val Missense 1/8 -
20-1559259-C-T SIRPB1 c.158G>A p.Arg53His Missense 2/6 -
11-8936464-T-C AKIP1 c.395T>C p.Ile132Thr Missense 4/6 -
15-25926179-C-A ATP10A c.3535G>T p.Ala1179Ser Missense 18/21 -
15-25926179-C-T ATP10A c.3535G>A p.Ala1179Thr Missense 18/21 -
10-118364967-G-C PNLIPRP1 c.1242G>C p.Glu414Asp Missense 12/13 -
19-6670070-C-A TNFSF14 c.11G>T p.Ser4Ile Missense 2/5 -
9-136305530-C-G ADAMTS13 c.1852C>G p.Pro618Ala Missense 16/29 -
2-111435567-G-T BUB1 c.6C>A p.Asp2Glu Missense 1/25 -
2-111435567-G-C BUB1 c.6C>G p.Asp2Glu Missense 1/25 -
16-11794311-TG-GT TXNDC11 c.902_903delCAinsGT p.Ser301Cys Missense 6/12 -
12-130841638-G-A PIWIL1 c.1580G>A p.Arg527Lys Missense 13/20 -
6-132004212-GTA-ATG ENPP3 c.1030_1032delGTAinsATG p.Val344Met Missense 12/25 -