PMID: 34255132

Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer immunology, immunotherapy : CII
Wang, Chao C, Shi, Min M, Zhang, Lei L, Ji, Jun J, Xie, Ruyan R, Wu, Chao C, Guo, Xianchao X, Yang, Ying Y, Zhou, Wei W, Peng, Chenhong C, Zhang, Henghui H, Yuan, Fei F, Zhang, Jun J
2021-07-13

2335 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
22-30051658-C-T NF2 c.592C>T p.R198* Nonsense 6/16 -
17-7577567-A-C TP53 c.714T>G p.C238W Missense 7/11 -
18-48591918-C-T SMAD4 c.1081C>T p.R361C Missense 9/12 -
12-11244117-A-G TAS2R43 c.712T>C p.C238R Missense 1/1 -
12-11183427-T-G TAS2R31 c.508A>C p.S170R Missense 1/1 -
12-11183421-C-T TAS2R31 c.514G>A p.V172M Missense 1/1 -
12-11183406-C-T TAS2R31 c.529G>A p.A177T Missense 1/1 -
7-16705105-C-T BZW2 c.37C>T p.R13W Missense 2/12 -
16-2369709-G-A ABCA3 c.746C>T p.P249L Missense 8/33 -
12-49445525-TG-T KMT2D c.1940delC p.P647Hfs*283 Frameshift 11/55 -
9-405014-CT-C DOCK8 c.3339delT p.F1113Lfs*2 Frameshift 27/48 -
10-90699305-C-T ACTA2 c.767G>A p.R256H Missense 7/9 -
22-37964429-T-C CDC42EP1 c.778T>C p.S260P Missense 3/3 -
1-155252514-C-T HCN3 c.591C>T p.D197= Synonymous 2/8 -
19-33517507-C-T RHPN2 c.217G>A p.V73M Missense 3/15 -
7-36450671-C-T ANLN c.1291C>T p.R431C Missense 7/24 -
4-190876194-T-C FRG1 c.320T>C p.I107T Missense 5/9 -
2-202344888-G-T STRADB c.1247G>T p.W416L Missense 12/12 -
2-66662994-G-A MEIS1 c.6G>A p.A2= Synonymous 1/13 -
2-219128168-G-A GPBAR1 c.721G>A p.V241M Missense 2/2 -
8-9473124-C-T TNKS c.931C>T p.R311W Missense 3/27 -
X-153008712-G-A ABCD1 c.1903G>A p.V635M Missense 9/10 -
11-71943961-C-A INPPL1 c.1894C>A p.L632I Missense 16/28 -
4-338205-T-C ZNF141 c.212T>C p.V71A Missense 3/4 -
17-7578525-G-T TP53 c.405C>A p.C135* Nonsense 5/11 -
X-41206602-C-T DDX3X c.1807C>T p.R603* Nonsense 16/17 -
2-198267698-C-T SF3B1 c.1781G>A p.R594Q Missense 13/25 -
17-7577526-A-G TP53 c.755T>C p.L252P Missense 7/11 -
1-46752128-GA-G LRRC41 c.400delT p.S134Pfs*116 Frameshift 4/10 -
1-16912136-A-C NBPF1 c.836T>G p.L279W Missense 12/28 -
3-49723111-GT-G MST1 c.1304delA p.N435Tfs*91 Frameshift 11/18 -
14-63174949-G-A KCNH5 c.2244C>T p.T748= Synonymous 11/11 -
4-88536881-AATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGCG-A DSPP c.3085_3120del36 p.N1029_S1040del InFrameDeletion 5/5 -
X-103495256-C-T ESX1 c.874G>A p.A292T Missense 4/4 -
6-108214694-C-T SEC63 c.1666G>A p.V556I Missense 16/21 -
6-161026093-G-T LPA c.2930C>A p.A977E Missense 18/39 -
8-101721692-G-A PABPC1 c.1240C>T p.P414S Missense 8/15 -
16-89986582-C-T MC1R c.916C>T p.R306C Missense 1/1 -
18-32822583-G-A ZNF397 c.149G>A p.R50H Missense 2/4 -
11-134048585-TG-T NCAPD3 c.2725delC p.Q909Rfs*10 Frameshift 22/35 -
X-119500468-C-T ATP1B4 c.152C>T p.S51L Missense 2/8 -
19-33792753-A-G CEBPA c.568T>C p.S190P Missense 1/1 -
22-20780097-G-GC SCARF2 c.2165_2165dup p.L726Afs*45 Frameshift 11/14 -
9-80923396-C-T PSAT1 c.637C>T p.R213C Missense 6/9 -
8-77763332-G-A ZFHX4 c.4175G>A p.R1392H Missense 10/11 -
4-88535868-A-G DSPP c.2054A>G p.N685S Missense 5/5 -
2-212295773-C-T ERBB4 c.2540G>A p.R847H Missense 21/28 -
15-57565319-C-T TCF12 c.1837C>T p.R613C Missense 19/21 -
2-198268383-G-A SF3B1 c.1645C>T p.R549C Missense 12/25 -
16-67655381-G-A CTCF c.1244G>A p.R415Q Missense 7/12 -
1-43394913-C-T SLC2A1 c.940G>A p.G314S Missense 7/10 -
1-172520700-G-A SUCO c.111G>A p.A37= Synonymous 2/24 -
16-56536294-G-A BBS2 c.1015C>T p.R339* Nonsense 9/17 -
3-133320121-A-T TOPBP1 c.4542T>A p.N1514K Missense 28/28 -
16-31102649-G-A VKORC1 c.298C>T p.R100C Missense 3/3 -
16-2220634-G-A TRAF7 c.251G>A p.R84H Missense 5/21 -
6-160998276-C-T LPA c.4523G>A p.R1508Q Missense 28/39 -
17-38975329-GCCGCCGCCGGAGCTT-G KRT10 c.1443_1457del15 p.S482_G486del InFrameDeletion 7/8 -
2-15679451-G-A NBAS c.409C>T p.R137W Missense 7/52 -
8-95392477-T-A RAD54B c.2143A>T p.I715F Missense 12/15 -
12-176120-C-G IQSEC3 c.72C>G p.N24K Missense 1/14 -
9-33395119-A-T AQP7 c.101T>A p.V34E Missense 3/8 -
2-71351575-G-A MCEE c.139C>T p.R47* Nonsense 2/3 -
1-152277698-C-G FLG c.9664G>C p.E3222Q Missense 3/3 -
1-12921485-A-G PRAMEF2 c.1276A>G p.N426D Missense 4/4 -
1-11907340-C-T NPPA c.280G>A p.G94R Missense 2/3 -
1-155448852-C-T ASH1L c.3809G>A p.R1270Q Missense 3/28 -
17-41244185-TATTAA-T BRCA1 c.3359_3363delTTAAT p.V1120Dfs*11 Frameshift 10/23 -
20-62168437-C-T PTK6 c.230+1G>A - IntronicSNV - 1/7
X-37026686-C-T FAM47C c.203C>T p.T68M Missense 1/1 -
11-72946204-C-T P2RY2 c.1000C>T p.R334C Missense 3/3 -
22-37964414-C-A CDC42EP1 c.763C>A p.P255T Missense 3/3 -
8-11995998-T-A USP17L2 c.272A>T p.E91V Missense 1/1 -
11-18637424-C-T SPTY2D1 c.397G>A p.E133K Missense 3/6 -
9-130293979-C-T NIBAN2 c.134G>A p.R45H Missense 2/14 -
19-40331279-G-A FBL c.159C>T p.G53= Synonymous 2/9 -
12-31237922-G-C DDX11 c.500G>C p.R167T Missense 5/27 -
3-195509813-G-A MUC4 c.8638C>T p.P2880S Missense 2/25 -
13-45523879-T-C NUFIP1 c.1116A>G p.S372= Synonymous 8/10 -
22-38119859-C-T TRIOBP c.1296C>T p.C432= Synonymous 7/24 -
1-152277671-A-G FLG c.9691T>C p.W3231R Missense 3/3 -
20-1559265-G-A SIRPB1 c.152C>T p.T51I Missense 2/6 -
16-14968981-G-A NOMO1 c.2143G>A p.E715K Missense 19/31 -
1-33478834-A-G AK2 c.668T>C p.I223T Missense 6/6 -
13-25670803-A-G PABPC3 c.467A>G p.K156R Missense 1/1 -
16-15457767-C-T NPIPA5 c.802G>A p.E268K Missense 8/8 -
9-107593264-C-T ABCA1 c.1834G>A p.E612K Missense 14/50 -
17-58232704-G-A CA4 c.88G>A p.E30K Missense 2/8 -
11-6411930-CCTGGTGCTGGCGCTGGCGCTGGCG-C SMPD1 c.107_130del24 p.V36_L43del InFrameDeletion 1/6 -
11-1017489-G-A MUC6 c.5312C>T p.P1771L Missense 31/33 -
7-100683521-G-A MUC17 c.8824G>A p.G2942S Missense 3/13 -
19-36210898-C-T KMT2B c.649C>T p.R217W Missense 3/37 -
17-1968866-C-T SMG6 c.3943G>A p.E1315K Missense 17/19 -
11-1018329-T-G MUC6 c.4472A>C p.K1491T Missense 31/33 -
1-152275876-C-T FLG c.11486G>A p.R3829H Missense 3/3 -
2-44079509-C-T ABCG8 c.578C>T p.A193V Missense 5/13 -
11-71276909-G-GGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA KRTAP5-10 c.305_306insAGGCTGTGGCTCCTGTGGGGGCTCCAAGGG p.G129_G138dup InFrameInsertion 1/1 -
19-53995312-T-G ZNF813 c.1826T>G p.F609C Missense 4/4 -
19-53855879-C-G ZNF845 c.1951C>G p.Q651E Missense 4/4 -
7-64864312-A-G ZNF92 c.1285A>G p.K429E Missense 4/4 -
2-222301282-C-T EPHA4 c.2183G>A p.R728H Missense 13/18 -
3-47040596-C-T NBEAL2 c.3532C>T p.R1178* Nonsense 24/54 -
8-11188806-G-C SLC35G5 c.191G>C p.G64A Missense 1/1 -
3-195508462-T-G MUC4 c.9989A>C p.H3330P Missense 2/25 -
12-11183393-G-A TAS2R31 c.542C>T p.T181M Missense 1/1 -
1-13697144-T-C PRAMEF19 c.829A>G p.I277V Missense 2/3 -
1-13697151-C-T PRAMEF19 c.822G>A p.M274I Missense 2/3 -
1-13697171-A-T PRAMEF19 c.802T>A p.Y268N Missense 2/3 -
1-13697308-G-A PRAMEF19 c.665C>T p.A222V Missense 2/3 -
1-13697369-C-T PRAMEF19 c.604G>A p.V202I Missense 2/3 -
1-13697447-G-C PRAMEF19 c.526C>G p.R176G Missense 2/3 -
13-25672188-A-T PABPC3 c.1852A>T p.T618S Missense 1/1 -
22-16287690-A-G POTEH c.196T>C p.C66R Missense 1/11 -
X-100749011-G-A ARMCX4 c.5435G>A p.G1812E Missense 2/2 -
19-36002369-C-T DMKN c.862G>A p.G288S Missense 5/16 -
1-152279848-T-C FLG c.7514A>G p.H2505R Missense 3/3 -
19-9324695-GG-CA OR7D4 c.818_819delinsTG p.T273M Missense 2/2 -
X-152813439-G-A ATP2B3 c.1105G>A p.V369M Missense 7/20 -
7-63680490-C-A ZNF735 c.1061C>A p.T354K Missense 4/4 -
3-195505925-G-A MUC4 c.12526C>T p.P4176S Missense 2/25 -
22-21369576-T-G P2RX6 c.113T>G p.V38G Missense 1/12 -
9-21202105-G-T IFNA7 c.60C>A p.C20* Nonsense 1/1 -
2-219694778-G-A PRKAG3 c.556C>T p.R186C Missense 4/14 -
12-102158081-C-T GNPTAB c.2614G>A p.V872I Missense 13/21 -
17-39197615-G-C KRTAP1-1 c.35C>G p.P12R Missense 1/1 -
15-76958035-A-T SCAPER c.2604T>A p.N868K Missense 21/32 -
1-152284136-CCTCA-C FLG c.3222_3225delTGAG p.S1074Rfs*47 Frameshift 3/3 -
1-1959698-C-T GABRD c.658C>T p.R220C Missense 6/9 -
1-40126852-C-T NT5C1A c.640G>A p.A214T Missense 5/6 -
11-47663951-A-G MTCH2 c.67T>C p.Y23H Missense 1/13 -
1-183532642-C-T NCF2 c.1105G>A p.G369R Missense 12/15 -
11-60776306-C-T CD6 c.770C>T p.A257V Missense 4/13 -
10-75868799-C-T VCL c.2630C>T p.P877L Missense 18/22 -
7-65553796-G-A ASL c.721G>A p.E241K Missense 11/17 -
2-38298106-G-GA CYP1B1 c.1390_1390dupT p.S464Ffs*14 Frameshift 3/3 -
7-75933434-C-T HSPB1 c.562C>T p.R188W Missense 3/3 -
13-110436548-G-A IRS2 c.1853C>T p.A618V Missense 1/2 -
16-89357108-C-T ANKRD11 c.526G>A p.A176T Missense 6/13 -
5-236628-C-T SDHA c.1346C>T p.A449V Missense 10/15 -
1-22405060-C-T CDC42 c.89C>T p.S30L Missense 2/6 -
5-71757266-T-C ZNF366 c.58A>G p.K20E Missense 2/5 -
3-148741877-C-T GYG1 c.646C>T p.R216* Nonsense 6/8 -
22-37964417-G-A CDC42EP1 c.766G>A p.A256T Missense 3/3 -
1-53373560-C-T ECHDC2 c.344G>A p.R115Q Missense 4/10 -
16-1501662-G-A CLCN7 c.1409C>T p.P470L Missense 16/25 -
1-175355216-C-T TNR c.1729G>A p.V577I Missense 8/23 -
12-76783456-C-G OSBPL8 c.1321G>C p.D441H Missense 12/24 -
9-37442428-C-T ZBTB5 c.121G>A p.V41M Missense 2/2 -
1-175292546-G-A TNR c.4024C>T p.P1342S Missense 23/23 -
9-108145498-G-A SLC44A1 c.1727G>A p.C576Y Missense 14/16 -
7-100218574-C-T TFR2 c.2312G>A p.R771H Missense 18/18 -
11-40137608-G-A LRRC4C c.235C>T p.R79W Missense 7/7 -
20-30419887-G-A MYLK2 c.1658G>A p.R553H Missense 12/13 -
1-89448896-A-T RBMXL1 c.614T>A p.V205D Missense 3/3 -
1-114942120-C-T TRIM33 c.3079G>A p.D1027N Missense 18/20 -
19-43697534-A-G PSG4 c.1250T>C p.I417T Missense 6/6 -
14-105414377-C-A AHNAK2 c.7411G>T p.V2471L Missense 7/7 -
9-133963151-G-A LAMC3 c.4424G>A p.R1475H Missense 27/28 -
1-12939476-G-C PRAMEF4 c.1326C>G p.N442K Missense 4/4 -
15-67482858-G-A SMAD3 c.1262G>A p.C421Y Missense 9/9 -
3-195507502-A-G MUC4 c.10949T>C p.L3650P Missense 2/25 -
8-89198759-C-T MMP16 c.350G>A p.R117Q Missense 3/10 -
3-126260838-G-A CHST13 c.443G>A p.R148H Missense 3/3 -
19-9361802-C-G OR7E24 c.83C>G p.S28* Nonsense 1/1 -
15-90984776-C-T IQGAP1 c.688C>T p.R230C Missense 8/38 -
1-152282568-C-A FLG c.4794G>T p.R1598S Missense 3/3 -
19-45885913-C-T PPP1R13L c.2320G>A p.G774R Missense 12/13 -
11-57513408-G-A BTBD18 c.337C>T p.R113C Missense 3/3 -
11-35308425-C-T SLC1A2 c.1165G>A p.V389I Missense 8/11 -
9-104153058-C-T MRPL50 c.167G>A p.R56Q Missense 2/2 -
12-132562209-G-A EP400 c.9363G>A p.P3121= Synonymous 53/53 -
7-100218703-G-A TFR2 c.2183C>T p.P728L Missense 18/18 -
15-92459298-G-A SLCO3A1 c.256G>A p.E86K Missense 2/10 -
10-37430853-A-G ANKRD30A c.860A>G p.E343G Missense 7/36 -
7-73922438-G-A GTF2IRD1 c.28G>A p.V10I Missense 2/27 -
11-1619278-G-C KRTAP5-2 c.203C>G p.S68C Missense 1/1 -
19-8563719-C-T PRAM1 c.973G>A p.E325K Missense 2/10 -
3-151542568-C-T AADAC c.549C>T p.I183= Synonymous 4/5 -
3-52172229-C-T POC1A c.769G>A p.D257N Missense 7/11 -
19-10654830-C-T ATG4D c.64C>T p.R22W Missense 1/10 -
1-152276770-G-C FLG c.10592C>G p.T3531R Missense 3/3 -
1-152187060-A-C HRNR c.7045T>G p.W2349G Missense 3/3 -
2-131976323-G-C POTEE c.348G>C p.K116N Missense 4/18 -
10-13647704-G-A PRPF18 c.323G>A p.R108H Missense 4/10 -
5-140589956-T-C PCDHB12 c.1477T>C p.S493P Missense 1/1 -
17-41610048-C-T ETV4 c.805G>A p.D269N Missense 8/13 -
1-201177949-G-C IGFN1 c.3928G>C p.V1310L Missense 12/24 -
1-152282507-A-G FLG c.4855T>C p.Y1619H Missense 3/3 -
7-149983565-TG-CA ACTR3C c.361_362delinsTG p.Q121W Missense 5/8 -
8-48840345-C-T PRKDC c.2245G>A p.V749I Missense 20/87 -
2-234680927-C-T UGT1A6 c.1321C>T p.R441C Missense 5/5 -
17-74134082-C-T FOXJ1 c.618G>A p.L206= Synonymous 3/3 -
18-13038415-C-T CEP192 c.1646C>T p.T549M Missense 13/45 -
17-42289100-C-T UBTF c.921G>A p.L307= Synonymous 10/21 -
X-77392471-TC-T TAF9B c.422delG p.R141Nfs*2 Frameshift 5/7 -
5-149301221-C-A PDE6A c.910G>T p.G304C Missense 5/22 -
19-44418429-G-A ZNF45 c.1159C>T p.P387S Missense 10/10 -
11-67164773-GCCC-G RAD9A c.1000_1002delCCC p.P334del InFrameDeletion 10/11 -
11-66985224-C-T KDM2A c.710C>T p.T237I Missense 9/21 -
8-7830177-C-T USP17L8 c.599G>A p.C200Y Missense 1/1 -
2-242756161-G-A NEU4 c.274G>A p.D92N Missense 3/4 -
2-97531406-G-A SEMA4C c.417C>T p.Y139= Synonymous 5/15 -
17-4699521-C-T PSMB6 c.32C>T p.A11V Missense 1/6 -
3-194062086-C-T CPN2 c.1346G>A p.R449Q Missense 2/2 -
12-57538778-G-A LRP1 c.472G>A p.G158S Missense 5/89 -
15-34396284-C-T PGBD4 c.1552C>T p.R518C Missense 1/1 -
X-125299344-G-A DCAF12L2 c.564C>T p.G188= Synonymous 1/1 -
16-3633395-G-A SLX4 c.4856C>T p.P1619L Missense 14/15 -
13-67799999-G-A PCDH9 c.2574C>T p.S858= Synonymous 2/5 -
7-107114615-C-T GPR22 c.110C>T p.P37L Missense 3/3 -
8-124526525-C-T FBXO32 c.421G>A p.A141T Missense 5/9 -
8-73984102-G-A SBSPON c.413C>T p.P138L Missense 3/5 -
22-50616616-G-GC PANX2 c.1479dupC p.G494Rfs*13 Frameshift 2/3 -
3-195508499-C-G MUC4 c.9952G>C p.A3318P Missense 2/25 -
X-53247093-C-T KDM5C c.407G>A p.R136Q Missense 4/26 -
7-100364675-C-A ZAN c.4655C>A p.T1552N Missense 25/49 -
1-209790831-C-T LAMB3 c.3152G>A p.R1051Q Missense 21/23 -
12-6969385-C-T USP5 c.1201C>T p.R401W Missense 10/20 -
2-32832645-C-T BIRC6 c.14194C>T p.R4732* Nonsense 72/74 -
3-101284584-G-A TRMT10C c.959G>A p.G320D Missense 2/2 -
10-119798711-C-T RAB11FIP2 c.1037G>A p.R346K Missense 3/5 -
21-34861300-C-T DNAJC28 c.401G>A p.R134Q Missense 2/2 -
4-187518176-G-A FAT1 c.12518C>T p.T4173M Missense 25/27 -
20-3802913-G-A AP5S1 c.149G>A p.R50Q Missense 2/3 -
4-104067126-C-T CENPE c.4273G>A p.G1425R Missense 30/49 -
1-109553669-G-A WDR47 c.999C>T p.D333= Synonymous 5/15 -
16-57689372-C-T ADGRG1 c.830C>T p.T277M Missense 6/14 -
X-31089585-C-T FTHL17 c.486G>A p.P162= Synonymous 1/1 -
7-72857084-G-A BAZ1B c.4065C>T p.I1355= Synonymous 18/20 -
8-55372118-A-C SOX17 c.808A>C p.M270L Missense 2/2 -
20-34208862-G-A SPAG4 c.1232G>A p.R411H Missense 12/12 -
19-19655661-C-T CILP2 c.2307C>T p.P769= Synonymous 8/8 -
14-86088446-C-T FLRT2 c.588C>T p.S196= Synonymous 2/2 -
1-186276175-A-G PRG4 c.1324A>G p.K442E Missense 7/13 -
19-2917729-G-A ZNF57 c.1110G>A p.G370= Synonymous 4/4 -
19-47214232-G-A PRKD2 c.443C>T p.A148V Missense 3/18 -
1-46089415-C-T CCDC17 c.167G>A p.R56Q Missense 1/13 -
11-1272055-G-C MUC5B c.13945G>C p.A4649P Missense 31/49 -
14-103576475-C-T EXOC3L4 c.2084C>T p.A695V Missense 11/11 -
12-11175073-A-T TAS2R19 c.98T>A p.I33N Missense 1/1 -
14-100835456-C-T WARS1 c.67G>A p.V23I Missense 2/11 -
1-149879664-C-T SV2A c.1474G>A p.V492I Missense 9/13 -
7-70254895-C-T AUTS2 c.2693C>T p.S898L Missense 19/19 -
4-119626803-G-A METTL14 c.893G>A p.R298H Missense 10/11 -
4-104640357-C-T TACR3 c.476G>A p.R159H Missense 1/5 -
5-141694435-C-T SPRY4 c.239G>A p.R80H Missense 2/2 -
17-77808648-C-T CBX4 c.793G>A p.V265M Missense 5/5 -
7-32598704-G-A AVL9 c.843G>A p.M281I Missense 10/16 -
11-66618614-G-A PC c.2120C>T p.T707M Missense 17/23 -
9-139974547-C-T UAP1L1 c.1131C>T p.N377= Synonymous 6/9 -
19-49797665-G-A SLC6A16 c.1375C>T p.R459C Missense 8/12 -
19-44099324-A-G IRGQ c.167T>C p.L56P Missense 2/3 -
19-9968077-G-A OLFM2 c.442C>T p.R148C Missense 4/6 -
19-22497922-G-C ZNF729 c.1703G>C p.G568A Missense 4/4 -
19-45161085-C-T PVR c.898C>T p.R300C Missense 5/8 -
7-100679070-A-C MUC17 c.4373A>C p.K1458T Missense 3/13 -
7-100679088-A-C MUC17 c.4391A>C p.N1464T Missense 3/13 -
5-57753011-CA-C PLK2 c.1004delT p.L335Cfs*68 Frameshift 7/14 -
14-24424254-G-A DHRS4 c.139G>A p.A47T Missense 2/8 -
19-37311007-G-A ZNF790 c.239C>T p.S80L Missense 5/5 -
3-195505909-CT-TC MUC4 c.12541_12542delinsGA p.S4181D Missense 2/25 -
17-49054522-C-T SPAG9 c.3470G>A p.R1157H Missense 27/30 -
3-71804168-C-T GPR27 c.968C>T p.S323F Missense 1/1 -
1-152279161-T-C FLG c.8201A>G p.H2734R Missense 3/3 -
1-16461015-C-T EPHA2 c.1630G>A p.G544S Missense 8/17 -
19-51955658-G-A SIGLEC8 c.1475C>T p.P492L Missense 7/7 -
11-4411552-C-T TRIM21 c.88G>A p.E30K Missense 2/7 -
X-128963062-G-T ZDHHC9 c.223C>A p.L75I Missense 4/11 -
18-22057484-GC-AT HRH4 c.1131_1132delinsAT p.Q378* Missense 3/3 -
1-21553697-C-T ECE1 c.1804G>A p.G602S Missense 16/19 -
11-1651677-A-T KRTAP5-5 c.607A>T p.S203C Missense 1/1 -
1-152284879-T-C FLG c.2483A>G p.N828S Missense 3/3 -
17-42452083-C-G ITGA2B c.2887G>C p.V963L Missense 28/30 -
19-58199341-GTC-G ZNF551 c.1700_1701delCT p.S567Ffs*2 Frameshift 3/3 -
1-22173003-C-T HSPG2 c.8254G>A p.G2752R Missense 63/97 -
12-125570906-C-T AACS c.389C>T p.T130I Missense 4/18 -
17-56356717-A-G MPO c.619T>C p.F207L Missense 5/12 -
12-125449552-C-T DHX37 c.1736G>A p.G579D Missense 14/27 -
2-204116759-A-C CYP20A1 c.359A>C p.N120T Missense 4/13 -
7-73752966-G-A CLIP2 c.310G>A p.A104T Missense 3/17 -
20-20596737-CA-C RALGAPA2 c.1637delT p.L546* Frameshift 13/40 -
2-26696374-C-T OTOF c.3470G>A p.R1157Q Missense 28/47 -
7-100679345-C-G MUC17 c.4648C>G p.Q1550E Missense 3/13 -
9-100777710-T-A ANP32B c.753T>A p.D251E Missense 7/7 -
22-28193390-C-T MN1 c.3142G>A p.E1048K Missense 1/2 -
17-39727983-C-T KRT9 c.262G>A p.G88S Missense 1/8 -
12-132445275-C-T EP400 c.111C>T p.S37= Synonymous 2/53 -
20-13740390-C-T ESF1 c.1777G>A p.E593K Missense 9/14 -
1-201177949-G-T IGFN1 c.3928G>T p.V1310L Missense 12/24 -
7-139724671-G-A PARP12 c.1795C>T p.R599* Nonsense 12/12 -
3-16475502-C-T RFTN1 c.188G>A p.R63H Missense 3/10 -
2-219609884-C-T TTLL4 c.1714C>T p.R572* Nonsense 6/20 -
19-52888227-G-A ZNF880 c.1394G>A p.R465K Missense 4/4 -
5-150858947-C-T SLC36A1 c.1056C>T p.Y352= Synonymous 10/11 -
14-38061531-G-A FOXA1 c.458C>T p.A153V Missense 2/2 -
4-4199515-A-G OTOP1 c.1046T>C p.M349T Missense 5/6 -
19-621240-C-T POLRMT c.2458G>A p.V820M Missense 10/21 -
7-21893986-C-T DNAH11 c.11115C>T p.Y3705= Synonymous 68/82 -
10-61833630-CT-C ANK3 c.7008delA p.G2337Vfs*36 Frameshift 37/44 -
17-29227550-CA-C TEFM c.525delT p.F175Lfs*15 Frameshift 3/4 -
2-152670717-C-T ARL5A c.221G>A p.R74H Missense 3/6 -
19-21720201-A-G ZNF429 c.1346A>G p.E449G Missense 4/4 -
18-77918358-C-T PARD6G c.427G>A p.V143I Missense 3/3 -
1-233464529-A-C MAP3K21 c.755A>C p.H252P Missense 1/10 -
16-30455973-C-T SEPHS2 c.1076G>A p.R359Q Missense 1/1 -
20-34320031-C-T RBM39 c.128G>A p.R43H Missense 4/17 -
7-100218659-C-T TFR2 c.2227G>A p.A743T Missense 18/18 -
1-152323462-C-A FLG2 c.6800G>T p.G2267V Missense 3/3 -
11-55703010-C-T OR5I1 c.867G>A p.P289= Synonymous 1/1 -
3-194408174-G-A FAM43A c.619G>A p.D207N Missense 1/1 -
16-716291-C-T WDR90 c.4681C>T p.R1561C Missense 37/41 -
1-152328606-T-C FLG2 c.1656A>G p.Q552= Synonymous 3/3 -
2-203162138-A-C NOP58 c.1108A>C p.I370L Missense 11/15 -
12-93210061-C-T EEA1 c.1844G>A p.R615H Missense 15/29 -
4-85418721-A-G NKX6-1 c.661T>C p.C221R Missense 1/3 -
7-97854187-G-A TECPR1 c.2616C>T p.S872= Synonymous 19/26 -
12-34176951-A-G ALG10 c.226A>G p.I76V Missense 2/3 -
2-131414239-A-G POTEJ c.1906A>G p.K636E Missense 15/15 -
12-120572096-T-A GCN1 c.7316A>T p.E2439V Missense 53/58 -
19-13007024-C-T GCDH c.641C>T p.T214M Missense 8/12 -
7-100681128-T-C MUC17 c.6431T>C p.I2144T Missense 3/13 -
1-183205707-C-T LAMC2 c.2569C>T p.R857W Missense 17/23 -
19-37368592-T-A ZNF345 c.860T>A p.V287E Missense 3/3 -
17-263442-G-A C17orf97 c.808G>A p.E270K Missense 2/2 -
5-176827450-A-C PFN3 c.128T>G p.I43S Missense 1/1 -
2-96993849-C-T ITPRIPL1 c.1480C>T p.L494F Missense 3/3 -
6-114181209-GAA-G MARCKS c.463_464delAA p.K155Efs*28 Frameshift 2/2 -
17-26955490-G-A KIAA0100 c.4387C>T p.R1463* Nonsense 24/39 -
17-18074989-C-T MYO15A c.10120C>T p.R3374C Missense 63/66 -
12-99071220-C-T APAF1 c.1811C>T p.T604M Missense 13/27 -
12-123201161-G-A HCAR3 c.124C>T p.L42F Missense 1/1 -
1-27101405-C-T ARID1A c.4687C>T p.P1563S Missense 18/20 -
1-152187096-G-C HRNR c.7009C>G p.Q2337E Missense 3/3 -
9-8636826-C-T PTPRD c.83G>A p.R28Q Missense 13/46 -
19-1646375-C-T TCF3 c.124G>A p.G42R Missense 3/19 -
14-21467909-C-T SLC39A2 c.124C>T p.R42W Missense 2/4 -
15-93555619-G-A CHD2 c.4637G>A p.R1546Q Missense 36/39 -
1-161137245-G-A PPOX c.307G>A p.G103S Missense 4/13 -
3-195511378-GC-TT MUC4 c.7072_7073delinsAA p.A2358N Missense 2/25 -
10-37430813-T-C ANKRD30A c.820T>C p.S330P Missense 7/36 -
1-152084579-TCTC-T TCHH c.1111_1113delGAG p.E371del InFrameDeletion 3/3 -
1-152281991-T-C FLG c.5371A>G p.R1791G Missense 3/3 -
1-12251131-G-A TNFRSF1B c.296G>A p.R99H Missense 3/10 -
X-124097412-CT-TA TENM1 c.190_191delAGinsTA p.R64* Nonsense 1/32 -
6-118475701-C-T SLC35F1 c.267C>T p.H89= Synonymous 2/8 -
3-195508403-T-C MUC4 c.10048A>G p.T3350A Missense 2/25 -
1-221053600-A-C HLX c.401A>C p.Q134P Missense 1/4 -
7-63981590-A-T ZNF680 c.1542T>A p.G514= Synonymous 4/4 -
2-14774340-G-A LRATD1 c.237G>A p.L79= Synonymous 2/2 -
7-94218019-G-A SGCE c.1279C>T p.P427S Missense 10/11 -
4-38776509-G-A TLR10 c.703C>T p.R235* Nonsense 4/4 -
7-100320429-G-A EPO c.389G>A p.R130H Missense 4/5 -
11-1018267-C-A MUC6 c.4534G>T p.A1512S Missense 31/33 -
1-21011372-C-T KIF17 c.2161G>A p.V721M Missense 10/15 -
8-7196209-T-G USP17L4 c.1573T>G p.S525A Missense 1/1 -
8-144460505-G-A RHPN1 c.448G>A p.A150T Missense 5/15 -
1-152286252-T-C FLG c.1110A>G p.A370= Synonymous 3/3 -
12-72026152-C-T ZFC3H1 c.2960G>A p.R987H Missense 15/35 -
4-119606725-GA-G METTL14 c.38delA p.K13Sfs*23 Frameshift 1/11 -
16-15116567-C-T PDXDC1 c.1096C>T p.R366W Missense 13/23 -
1-55472846-G-A BSND c.449G>A p.G150D Missense 3/4 -
17-7417334-G-A POLR2A c.5751G>A p.S1917= Synonymous 29/29 -
2-160139462-C-T WDSUB1 c.119G>A p.R40H Missense 2/11 -
11-4936092-G-A OR51G2 c.802C>T p.R268C Missense 2/2 -
7-47479197-G-A TNS3 c.38C>T p.T13M Missense 6/31 -
11-62371630-C-T EML3 c.2026G>A p.V676I Missense 17/22 -
6-170592157-G-T DLL1 c.2085C>A p.G695= Synonymous 10/11 -
21-45557166-C-T GATD3 c.416C>T p.A139V Missense 4/7 -
11-35229753-C-T CD44 c.1516C>T p.Q506* Nonsense 12/18 -
19-57840274-G-A ZNF543 c.1444G>A p.V482M Missense 4/4 -
7-150174549-C-T GIMAP8 c.1679C>T p.A560V Missense 5/5 -
19-21607675-C-G ZNF493 c.2214C>G p.D738E Missense 4/4 -
19-24270125-A-G ZNF254 c.16A>G p.R6G Missense 1/4 -
8-11188653-C-G SLC35G5 c.38C>G p.S13C Missense 1/1 -
19-38896230-C-G FAM98C c.705C>G p.R235= Synonymous 6/8 -
15-35086946-C-T ACTC1 c.64G>A p.G22S Missense 2/7 -
1-156844729-C-T NTRK1 c.1283C>T p.A428V Missense 11/17 -
9-70918571-C-G FOXD4L3 c.704C>G p.P235R Missense 1/1 -
1-167666953-G-GT RCSD1 c.1092_1093insT p.E365* Nonsense 6/7 -
16-2200035-G-A RAB26 c.289G>A p.V97I Missense 2/9 -
22-22599592-C-T VPREB1 c.281C>T p.A94V Missense 2/2 -
17-66246432-G-A AMZ2 c.104G>A p.R35H Missense 2/7 -
4-1729838-C-T TACC3 c.709C>T p.R237W Missense 4/16 -
19-57328017-C-T PEG3 c.1793G>A p.R598H Missense 10/10 -
1-22167762-G-A HSPG2 c.9345C>T p.S3115= Synonymous 71/97 -
16-24578517-C-T RBBP6 c.1643C>T p.P548L Missense 15/18 -
1-170511646-G-A GORAB c.509G>A p.R145H Missense 3/5 -
19-45926605-C-T ERCC1 c.28G>A p.V10M Missense 2/10 -
12-120114386-G-A PRKAB1 c.577G>A p.V193I Missense 5/7 -
3-129207187-C-T IFT122 c.1939C>T p.R647C Missense 16/30 -
15-72037537-G-A THSD4 c.1999G>A p.E667K Missense 11/17 -
5-140531333-T-G PCDHB6 c.1495T>G p.S499A Missense 1/1 -
15-28387460-C-T HERC2 c.11624G>A p.R3875Q Missense 76/93 -
14-77843363-A-G TMED8 c.34T>C p.S12P Missense 1/6 -
16-2834754-A-G PRSS33 c.734T>C p.L245P Missense 7/7 -
1-1421194-C-T ATAD3B c.939C>T p.D313= Synonymous 9/16 -
9-95869972-C-T CARD19 c.24C>T p.D8= Synonymous 2/6 -
5-35025885-C-T AGXT2 c.946G>A p.V316M Missense 9/14 -
1-78481716-A-G DNAJB4 c.799A>G p.I267V Missense 3/3 -
6-169053839-G-A SMOC2 c.1216G>A p.V406I Missense 11/13 -
2-24522833-C-T ITSN2 c.1289G>A p.R430Q Missense 12/40 -
3-195508501-TC-CT MUC4 c.9949_9950delinsAG p.D3317S Missense 2/25 -
19-1114311-C-T SBNO2 c.1996G>A p.D666N Missense 18/32 -
13-29600822-G-A MTUS2 c.2017G>A p.V663I Missense 3/16 -
16-70551548-C-T COG4 c.350G>A p.R117H Missense 3/19 -
3-13661319-G-A FBLN2 c.2143G>A p.V715M Missense 8/18 -
10-37430820-T-C ANKRD30A c.827T>C p.V332A Missense 7/36 -
7-100634548-G-A MUC12 c.704G>A p.R235H Missense 2/12 -
6-42073661-TGGG-T C6orf132 c.1987_1989delCCC p.P663del InFrameDeletion 4/5 -
16-72822631-T-G ZFHX3 c.9544A>C p.T3182P Missense 10/10 -
8-117784014-G-A UTP23 c.683G>A p.R228K Missense 3/3 -
1-152326027-C-G FLG2 c.4235G>C p.R1412T Missense 3/3 -
12-48381474-C-T COL2A1 c.1141G>A p.G381S Missense 19/54 -
1-209791827-C-T LAMB3 c.2879G>A p.R960H Missense 19/23 -
10-18138665-G-C MRC1 c.1221G>C p.L407F Missense 7/30 -
1-173951871-A-T RC3H1 c.762T>A p.C254* Nonsense 5/20 -
2-219146688-G-A TMBIM1 c.177C>T p.P59= Synonymous 2/12 -
16-84209903-C-T DNAAF1 c.2063C>T p.P688L Missense 11/12 -
19-17927787-A-G INSL3 c.272T>C p.L91P Missense 2/2 -
1-57216797-T-C FYB2 c.1307A>G p.K436R Missense 9/20 -
4-437919-C-T ZNF721 c.337G>A p.E113K Missense 3/3 -
7-72738504-G-A TRIM50 c.282C>T p.N94= Synonymous 2/7 -
3-195505930-CC-GT MUC4 c.12520_12521delinsAC p.G4174T Missense 2/25 -
11-1017562-T-C MUC6 c.5239A>G p.T1747A Missense 31/33 -
7-43827543-G-A BLVRA c.53G>A p.R18Q Missense 3/8 -
5-76344070-C-T AGGF1 c.1286C>T p.T429I Missense 7/14 -
1-117158819-A-G IGSF3 c.304T>C p.S102P Missense 3/11 -
6-27219584-G-C PRSS16 c.773G>C p.G258A Missense 8/12 -
20-35177530-C-T MYL9 c.397C>T p.R133C Missense 4/4 -
7-70227928-C-T AUTS2 c.815C>T p.S272L Missense 7/19 -
12-32890850-G-A DNM1L c.1648G>A p.A550T Missense 15/20 -
19-4792502-C-T FEM1A c.636C>T p.D212= Synonymous 1/1 -
X-105168858-TATAGGCAGTGAAAGA-T NRK c.3149_3163del15 p.I1050_R1054del InFrameDeletion 19/29 -
12-104171678-C-T NT5DC3 c.1576G>A p.E526K Missense 14/14 -
16-836248-C-T RPUSD1 c.641G>A p.R214H Missense 6/6 -
1-116226594-C-T VANGL1 c.976C>T p.R326W Missense 6/8 -
19-40581112-C-A ZNF780A c.1237G>T p.G413C Missense 6/6 -
19-7691072-C-T XAB2 c.607G>A p.V203M Missense 5/19 -
6-170627725-G-A FAM120B c.1247G>A p.C416Y Missense 2/11 -
19-7975638-C-T MAP2K7 c.625C>T p.R209W Missense 6/11 -
19-3474876-C-T SMIM24 c.358G>A p.G120R Missense 4/4 -
22-42910177-C-T RRP7A c.692G>A p.R231Q Missense 6/7 -
16-2546873-C-T TBC1D24 c.724C>T p.R242C Missense 2/8 -
8-144681979-G-A TIGD5 c.1906G>A p.A636T Missense 1/1 -
21-45797643-C-T TRPM2 c.1001C>T p.P334L Missense 7/32 -
17-56833491-T-C PPM1E c.133T>C p.S45P Missense 1/7 -
3-186917437-G-A RTP1 c.371G>A p.R124H Missense 2/2 -
14-86089506-G-A FLRT2 c.1648G>A p.A550T Missense 2/2 -
21-47663396-CG-C MCM3AP c.5278delC p.R1760Gfs*9 Frameshift 24/28 -
1-156500049-G-A IQGAP3 c.4252C>T p.P1418S Missense 34/38 -
3-39139911-G-A GORASP1 c.1139C>T p.A380V Missense 9/9 -
19-33439211-G-T CEP89 c.556C>A p.P186T Missense 5/19 -
19-9018463-T-C MUC16 c.37711A>G p.T12571A Missense 24/84 -
5-177021228-G-A TMED9 c.500G>A p.R167Q Missense 4/5 -
5-102526675-C-T PPIP5K2 c.3485C>T p.A1162V Missense 29/31 -
11-64460322-C-T NRXN2 c.775G>A p.E259K Missense 4/23 -
22-50502469-A-AGCACCCCCACCCCACAGGCCACTCACCTCCCCG MLC1 c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC p.V354_A355insSGLWGGGAGEV InFrameInsertion 11/12 -
19-20117465-T-C ZNF682 c.846A>G p.E282= Synonymous 4/4 -
15-86311539-C-T KLHL25 c.1503G>A p.T501= Synonymous 2/3 -
4-110433153-G-A SEC24B c.1817G>A p.R606Q Missense 9/24 -
7-148963502-C-T ZNF783 c.101C>T p.S34L Missense 2/6 -
6-5085739-G-T PPP1R3G c.20G>T p.R7L Missense 1/1 -
12-133438076-G-A CHFR c.728C>T p.P243L Missense 7/18 -
11-108385425-G-A EXPH5 c.809C>T p.S270F Missense 6/6 -
X-76875919-C-T ATRX c.5216G>A p.R1739Q Missense 20/35 -
16-28734519-G-A EIF3C c.811G>A p.E271K Missense 9/21 -
2-136594257-G-A LCT c.483C>T p.S161= Synonymous 1/17 -
1-152129063-C-T RPTN c.512G>A p.S171N Missense 3/3 -
8-98290028-GT-G TSPYL5 c.44delA p.N15Tfs*149 Frameshift 1/1 -
9-95076878-C-T NOL8 c.2029G>A p.E677K Missense 7/17 -
17-61615449-G-A KCNH6 c.1525G>A p.G509R Missense 7/13 -
19-58265277-GA-G ZNF776 c.784delA p.R262Dfs*130 Frameshift 3/3 -
1-42048518-G-A HIVEP3 c.1951C>T p.R651W Missense 4/9 -
3-113146130-T-C CFAP44 c.157A>G p.K53E Missense 3/35 -
14-92609403-C-T CPSF2 c.905C>T p.P302L Missense 9/16 -
20-8352083-G-A PLCB1 c.232G>A p.A78T Missense 3/32 -
X-9864517-G-A SHROOM2 c.2569G>A p.A857T Missense 4/10 -
17-62857005-T-C LRRC37A3 c.3259A>G p.I1087V Missense 12/15 -
17-38975163-AGCCGCCGCCGCC-A KRT10 c.1612_1623del12 p.G538_G541del InFrameDeletion 7/8 -
8-133150190-C-T KCNQ3 c.1642G>A p.E548K Missense 12/15 -
7-86978418-C-T CROT c.34C>T p.R12* Nonsense 3/18 -
5-109904239-T-C TMEM232 c.1364A>G p.D455G Missense 11/14 -
7-73753054-C-T CLIP2 c.398C>T p.P133L Missense 3/17 -
11-1018246-T-C MUC6 c.4555A>G p.N1519D Missense 31/33 -
1-12837371-GT-AA PRAMEF12 c.1081_1082delinsAA p.V361K Missense 3/3 -
5-173317713-C-T CPEB4 c.977C>T p.T326M Missense 1/10 -
17-6589607-CA-C SLC13A5 c.1625delT p.L542Wfs*22 Frameshift 12/12 -
1-152285877-C-G FLG c.1485G>C p.S495= Synonymous 3/3 -
13-73357764-C-T PIBF1 c.157C>T p.R53* Nonsense 2/18 -
3-51897283-G-A IQCF2 c.392G>A p.G131D Missense 3/3 -
4-106863698-C-T NPNT c.998C>T p.P333L Missense 8/12 -
17-29161577-C-T ATAD5 c.478C>T p.R160C Missense 2/23 -
8-144644176-C-T GSDMD c.871C>T p.R291W Missense 8/11 -
9-135487481-C-T DDX31 c.2302G>A p.V768M Missense 19/20 -
4-125591518-C-T ANKRD50 c.2914G>A p.V972I Missense 4/5 -
5-71490644-C-A MAP1B c.1462C>A p.L488M Missense 5/7 -
20-47872391-C-T ZNFX1 c.2758G>A p.E920K Missense 9/14 -
20-60989551-CCTTCGGGGAGAG-C RBBP8NL c.844_855del12 p.L282_K285del InFrameDeletion 10/14 -
17-75208278-G-A SEC14L1 c.1858G>A p.V620M Missense 15/17 -
11-71715012-C-T NUMA1 c.6257G>A p.R2086H Missense 26/27 -
19-16524628-G-A EPS15L1 c.1222C>T p.R408* Nonsense 13/24 -
18-22056846-G-A HRH4 c.493G>A p.E165K Missense 3/3 -
8-41798766-C-T KAT6A c.2633G>A p.R878H Missense 15/17 -
5-80476045-C-T RASGRF2 c.2738C>T p.T913M Missense 18/27 -
X-118604399-CT-GG SLC25A5 c.662_663delinsGG p.T221R Missense 3/4 -
7-100678514-A-C MUC17 c.3817A>C p.T1273P Missense 3/13 -
2-88387517-G-A SMYD1 c.451G>A p.V151M Missense 3/10 -
19-4323368-C-T FSD1 c.1315C>T p.R439C Missense 12/13 -
3-122003439-G-A CASR c.2638G>A p.A880T Missense 7/7 -
2-33335689-G-A LTBP1 c.904G>A p.G302S Missense 4/34 -
17-48776940-G-T ANKRD40 c.598C>A p.P200T Missense 3/5 -
15-68582696-C-T FEM1B c.1000C>T p.R334W Missense 2/2 -
19-49611055-C-T SNRNP70 c.669C>T p.P223= Synonymous 10/10 -
12-120591612-C-T GCN1 c.3803G>A p.R1268Q Missense 32/58 -
7-76916163-AAGCCTG-A CCDC146 c.2199_2204delGCCTGA p.K733_D735delinsN MultiAAMissense 16/19 -
7-100680105-T-C MUC17 c.5408T>C p.L1803P Missense 3/13 -
9-104171770-G-A ZNF189 c.1720G>A p.D574N Missense 3/3 -
12-42499714-T-C GXYLT1 c.770A>G p.N257S Missense 5/8 -
15-102346824-G-A OR4F6 c.902G>A p.R301Q Missense 2/2 -
19-9018441-GT-CC MUC16 c.37732_37733delinsGG p.T12578G Missense 24/84 -
13-25274964-C-T ATP12A c.1785C>T p.T595= Synonymous 13/23 -
6-148869678-G-T SASH1 c.3728G>T p.G1243V Missense 20/20 -
2-24522816-G-A ITSN2 c.1306C>T p.R436* Nonsense 12/40 -
7-82584741-C-T PCLO c.5528G>A p.R1843H Missense 5/25 -
4-956237-C-T DGKQ c.2200G>A p.A734T Missense 18/23 -
7-45614199-G-A ADCY1 c.57G>A p.G19= Synonymous 1/20 -
15-35196651-CA-C AQR c.1886delT p.L629Wfs*10 Frameshift 19/35 -
16-5140112-A-T EEF2KMT c.715T>A p.F239I Missense 6/8 -
X-54777785-G-A ITIH6 c.3381C>T p.G1127= Synonymous 12/13 -
2-29917782-C-T ALK c.886G>A p.E296K Missense 3/29 -
15-86312557-C-T KLHL25 c.485G>A p.R162H Missense 2/3 -
16-70698297-G-A MTSS2 c.1527C>T p.P509= Synonymous 15/15 -
X-144905887-G-C SLITRK2 c.1944G>C p.K648N Missense 5/5 -
9-35043654-C-T C9orf131 c.1028C>T p.P343L Missense 2/2 -
14-68260450-G-A ZFYVE26 c.2428C>T p.R810W Missense 14/42 -
1-52442658-A-C RAB3B c.132T>G p.D44E Missense 2/5 -
8-10467568-TCTC-T RP1L1 c.4037_4039delGAG p.G1346del InFrameDeletion 4/4 -
7-63981779-G-T ZNF680 c.1353C>A p.N451K Missense 4/4 -
14-64655333-T-A SYNE2 c.17778T>A p.N5926K Missense 98/116 -
1-109792849-G-A CELSR2 c.148G>A p.A50T Missense 1/34 -
1-197070611-A-T ASPM c.7770T>A p.N2590K Missense 18/28 -
10-129903016-T-C MKI67 c.7088A>G p.N2363S Missense 13/15 -
2-88885534-C-T EIF2AK3 c.1475G>A p.R492Q Missense 9/17 -
12-57407142-C-T TAC3 c.238+1G>A - IntronicSNV - 4/6
3-57108279-T-C SPATA12 c.557T>C p.I186T Missense 2/2 -
17-11924286-C-T MAP2K4 c.83C>T p.A28V Missense 1/11 -
15-73996254-G-A CD276 c.988G>A p.V330M Missense 5/10 -
8-145007471-C-T PLEC c.1312G>A p.V438M Missense 13/32 -
18-12699149-C-T CEP76 c.349G>A p.A117T Missense 4/12 -
19-8562693-C-T PRAM1 c.1531G>A p.D511N Missense 4/10 -
8-23082358-C-T TNFRSF10A c.217G>A p.A73T Missense 1/10 -
7-6661841-G-A ZNF853 c.1219G>A p.V407M Missense 3/3 -
4-166963180-TAG-T TLL1 c.1265_1266delGA p.R422Ifs*8 Frameshift 11/21 -
9-140657205-C-T EHMT1 c.1580C>T p.P527L Missense 10/27 -
1-207641913-G-A CR2 c.487G>A p.G163R Missense 3/20 -
17-72926545-C-T OTOP2 c.815C>T p.T272I Missense 6/7 -
3-195505909-C-A MUC4 c.12542G>T p.S4181I Missense 2/25 -
9-90283544-G-A DAPK1 c.1956G>A p.S652= Synonymous 19/26 -
X-37699877-C-T DYNLT3 c.302G>A p.R101Q Missense 5/5 -
4-88536935-G-A DSPP c.3121G>A p.D1041N Missense 5/5 -
5-140531277-T-C PCDHB6 c.1439T>C p.I480T Missense 1/1 -
11-1017590-TCG-GCT MUC6 c.5209_5211delCGAinsAGC p.R1737S Missense 31/33 -
15-90192275-C-T KIF7 c.853G>A p.V285I Missense 4/19 -
6-395003-A-AT IRF4 c.399_400insT p.K134* Nonsense 3/9 -
19-20728254-C-G ZNF737 c.755G>C p.S252T Missense 4/4 -
7-100642059-C-T MUC12 c.8215C>T p.R2739C Missense 2/12 -
20-1559133-AG-CT SIRPB1 c.283_284delCTinsAG p.L95S Missense 2/6 -
5-123983801-G-A ZNF608 c.2276C>T p.T759M Missense 5/10 -
19-58290981-A-G ZNF586 c.1026A>G p.E342= Synonymous 3/3 -
X-48682415-G-C HDAC6 c.3387G>C p.V1129= Synonymous 27/29 -
9-26946924-G-A PLAA c.120C>T p.D40= Synonymous 1/14 -
10-62671243-C-T RHOBTB1 c.58G>A p.V20M Missense 3/11 -
12-109921441-C-T UBE3B c.85C>T p.R29W Missense 3/28 -
11-47663948-C-T MTCH2 c.70G>A p.V24M Missense 1/13 -
11-17533545-TA-T USH1C c.1317delT p.N439Kfs*25 Frameshift 16/27 -
11-133814229-G-A IGSF9B c.295C>T p.R99W Missense 3/20 -
4-56875926-C-T CEP135 c.2362C>T p.R788* Nonsense 19/26 -
7-100680762-G-C MUC17 c.6065G>C p.G2022A Missense 3/13 -
21-45539381-G-A PWP2 c.1165G>A p.V389M Missense 10/21 -
19-58385473-A-C ZNF814 c.1285T>G p.F429V Missense 3/3 -
7-12410425-G-T VWDE c.1653C>A p.I551= Synonymous 11/29 -
1-152281309-C-G FLG c.6053G>C p.R2018T Missense 3/3 -
5-21975485-C-T CDH12 c.241G>A p.D81N Missense 6/15 -
9-20414081-C-T MLLT3 c.763G>A p.E255K Missense 5/11 -
2-129025780-C-T HS6ST1 c.1192G>A p.V398M Missense 2/2 -
1-112246078-C-T RAP1A c.304C>T p.R102W Missense 5/8 -
14-21829058-C-T SUPT16H c.2003G>A p.R668H Missense 17/26 -
10-105926425-G-A CFAP43 c.2860C>T p.R954C Missense 23/38 -
12-111856097-C-T SH2B3 c.148C>T p.R50W Missense 2/8 -
9-33395103-G-A AQP7 c.117C>T p.A39= Synonymous 3/8 -
3-183777783-C-T HTR3C c.1093C>T p.P365S Missense 8/9 -
5-174869261-A-C DRD1 c.842T>G p.F281C Missense 2/2 -
16-67470709-G-A HSD11B2 c.1021G>A p.G341S Missense 5/5 -
18-28919768-C-T DSG1 c.1467C>T p.D489= Synonymous 11/15 -
17-3458072-T-C TRPV3 c.73A>G p.I25V Missense 2/18 -
17-56355421-A-T MPO c.971T>A p.I324N Missense 7/12 -
15-51634078-G-T GLDN c.197G>T p.R66L Missense 1/10 -
2-238258810-G-A COL6A3 c.6859C>T p.R2287W Missense 28/44 -
1-11886261-C-T CLCN6 c.697C>T p.R233* Nonsense 9/23 -
1-152328587-A-G FLG2 c.1675T>C p.Y559H Missense 3/3 -
2-71188116-T-A ATP6V1B1 c.651T>A p.H217Q Missense 7/14 -
1-207787754-G-A CR1 c.6581G>A p.R2194Q Missense 40/47 -
5-1033526-C-T NKD2 c.242C>T p.P81L Missense 5/10 -
X-153583312-C-T FLNA c.5098G>A p.V1700M Missense 31/48 -
18-9887119-A-G TXNDC2 c.442A>G p.K148E Missense 2/2 -
16-31123578-C-T BCKDK c.1231C>T p.R411W Missense 12/12 -
X-34150139-G-A FAM47A c.257C>T p.P86L Missense 1/1 -
21-43855023-C-T UBASH3A c.1352C>T p.P451L Missense 10/15 -
8-141551289-C-T AGO2 c.2008G>A p.G670S Missense 15/19 -
5-96127866-G-A ERAP1 c.1218C>T p.D406= Synonymous 8/19 -
4-186324768-T-C UFSP2 c.1203A>G p.G401= Synonymous 11/12 -
21-45564790-G-A GATD3 c.766G>A p.G256R Missense 7/7 -
22-31859741-G-A EIF4ENIF1 c.511C>T p.R171C Missense 5/19 -
14-64746803-C-G ESR2 c.431G>C p.R144T Missense 3/9 -
X-140993751-A-C MAGEC1 c.561A>C p.Q187H Missense 4/4 -
5-140589848-G-A PCDHB12 c.1369G>A p.A457T Missense 1/1 -
5-149562360-G-A CDX1 c.475G>A p.V159M Missense 2/3 -
6-44413411-C-T CDC5L c.2111C>T p.T704M Missense 15/16 -
11-3383014-C-T ZNF195 c.332G>A p.R111H Missense 4/6 -
11-1018399-C-T MUC6 c.4402G>A p.A1468T Missense 31/33 -
12-123812002-C-T SBNO1 c.1663G>A p.V555I Missense 13/32 -
11-1629579-T-C KRTAP5-3 c.37A>G p.S13G Missense 1/1 -
11-1017997-A-G MUC6 c.4804T>C p.Y1602H Missense 31/33 -
1-9780208-C-T PIK3CD c.1378C>T p.R460C Missense 11/24 -
5-76607841-G-A PDE8B c.362G>A p.R121H Missense 2/22 -
16-23540832-C-T EARS2 c.1343G>A p.R448H Missense 7/9 -
16-2124261-G-A TSC2 c.2416G>A p.V806M Missense 22/42 -
12-122294509-G-A HPD c.221C>T p.A74V Missense 5/14 -
17-40269482-C-T KAT2A c.1561G>A p.V521M Missense 10/18 -
1-203150366-C-T CHI3L1 c.635G>A p.W212* Nonsense 7/10 -
11-40137319-C-T LRRC4C c.524G>A p.R175H Missense 7/7 -
X-152830455-C-T ATP2B3 c.3236C>T p.T1079I Missense 19/20 -
16-88932034-G-T PABPN1L c.396C>A p.C132* Nonsense 5/9 -
12-12318202-G-A LRP6 c.1573C>T p.R525* Nonsense 8/23 -
14-60976305-C-T SIX6 c.189C>T p.H63= Synonymous 1/2 -
9-138377302-G-A PPP1R26 c.946G>A p.E316K Missense 4/4 -
1-36230237-T-C CLSPN c.212A>G p.D71G Missense 3/25 -
1-181700355-G-A CACNA1E c.2285G>A p.R762H Missense 19/48 -
16-31144614-C-T PRSS8 c.199G>A p.V67I Missense 3/6 -
9-100777705-G-A ANP32B c.748G>A p.D250N Missense 7/7 -
7-64864643-A-G ZNF92 c.1616A>G p.Y539C Missense 4/4 -
2-55462594-C-T RPS27A c.352C>T p.R118C Missense 6/6 -
19-1460239-C-T APC2 c.1363C>T p.R455W Missense 11/15 -
1-52839003-C-T ORC1 c.2436G>A p.P812= Synonymous 17/17 -
9-138903608-G-A NACC2 c.1518C>T p.I506= Synonymous 6/6 -
13-114776670-C-T RASA3 c.1567G>A p.G523S Missense 16/24 -
9-131847003-G-A DOLPP1 c.133G>A p.V45I Missense 2/8 -
14-92625601-C-A CPSF2 c.2096C>A p.T699N Missense 14/16 -
12-104379396-T-A TDG c.980T>A p.M327K Missense 9/10 -
13-73335834-G-A DIS3 c.2461C>T p.H821Y Missense 18/21 -
1-152278762-A-C FLG c.8600T>G p.I2867S Missense 3/3 -
17-8132101-C-T CTC1 c.3331G>A p.V1111I Missense 21/23 -
1-12837570-G-A PRAMEF12 c.1280G>A p.G427E Missense 3/3 -
11-490448-C-T PTDSS2 c.1330C>T p.R444W Missense 12/12 -
16-784278-G-A CIAO3 c.644C>T p.P215L Missense 6/11 -
17-61911562-G-A SMARCD2 c.1048C>T p.R350W Missense 8/13 -
19-51022054-C-T LRRC4B c.916G>A p.V306M Missense 3/3 -
16-30098167-C-T TBX6 c.845G>A p.R282Q Missense 7/9 -
X-153228808-C-T HCFC1 c.580G>A p.G194R Missense 4/26 -
5-176916394-C-T PDLIM7 c.869G>A p.R290Q Missense 9/13 -
19-6467729-G-A DENND1C c.2192C>T p.T731M Missense 23/23 -
14-24906364-G-A KHNYN c.1910G>A p.R637Q Missense 8/8 -
1-6500839-C-T ESPN c.829C>T p.H277Y Missense 4/13 -
19-53668372-A-T ZNF665 c.1371T>A p.P457= Synonymous 4/4 -
17-73482036-G-A TMEM94 c.229G>A p.V77M Missense 4/32 -
5-140208433-G-A PCDHA6 c.757G>A p.E253K Missense 1/4 -
15-83334252-T-G AP3B2 c.1928A>C p.D643A Missense 16/27 -
1-201178297-G-A IGFN1 c.4276G>A p.E1426K Missense 12/24 -
1-203466160-C-T OPTC c.287C>T p.T96M Missense 3/8 -
11-1586951-C-T DUSP8 c.106G>A p.V36M Missense 2/7 -
16-16281005-C-T ABCC6 c.1843G>A p.V615I Missense 14/31 -
19-9068575-C-G MUC16 c.18871G>C p.D6291H Missense 3/84 -
10-44052224-T-C ZNF239 c.1304A>G p.K435R Missense 4/4 -
14-52508826-C-T NID2 c.1822G>A p.A608T Missense 7/22 -
7-130007373-C-T CPA5 c.999C>T p.Y333= Synonymous 11/13 -
19-48733751-G-T CARD8 c.979C>A p.P327T Missense 10/14 -
2-235962407-G-A SH3BP4 c.2839G>A p.V947I Missense 6/6 -
9-125282233-G-A OR1J4 c.814G>A p.V272I Missense 1/1 -
19-55915741-G-A UBE2S c.257C>T p.P86L Missense 3/4 -
4-860167-C-T GAK c.3028G>A p.D1010N Missense 22/28 -
1-155015235-G-A DCST1 c.917G>A p.R306H Missense 9/17 -
12-132625048-G-A DDX51 c.1593C>T p.D531= Synonymous 11/15 -
8-134232956-G-A CCN4 c.482G>A p.R161H Missense 3/5 -
17-48646309-C-T CACNA1G c.321C>T p.I107= Synonymous 2/38 -
13-25842015-A-T MTMR6 c.206T>A p.V69E Missense 3/14 -
1-16909053-T-G NBPF1 c.1292A>C p.Q431P Missense 14/28 -
19-24309361-C-T ZNF254 c.559C>T p.R187C Missense 4/4 -
X-48826423-G-A KCND1 c.256C>T p.R86C Missense 1/6 -
16-89258726-G-C CDH15 c.1729G>C p.V577L Missense 11/14 -
11-74676946-G-A SPCS2 c.337G>A p.V113I Missense 3/5 -
11-1017673-A-C MUC6 c.5128T>G p.S1710A Missense 31/33 -
1-32669500-G-A CCDC28B c.185G>A p.R62H Missense 3/6 -
4-80954682-C-T ANTXR2 c.740G>A p.G247D Missense 9/17 -
3-127379360-GGAA-G PODXL2 c.495_497delAGA p.E172del InFrameDeletion 3/8 -
12-57604182-C-T LRP1 c.12673C>T p.R4225C Missense 82/89 -
12-48526798-C-T PFKM c.385C>T p.R129C Missense 5/23 -
13-32912007-C-T BRCA2 c.3515C>T p.S1172L Missense 11/27 -
7-5983076-G-A RSPH10B c.1637C>T p.T546M Missense 15/21 -
7-5632855-C-T FSCN1 c.288C>T p.H96= Synonymous 1/5 -
9-34623614-G-A ARID3C c.673C>T p.R225C Missense 5/8 -
16-72048541-G-A DHODH c.404G>A p.R135H Missense 3/9 -
15-59528804-C-T MYO1E c.400G>A p.G134R Missense 5/28 -
19-40745962-G-A AKT2 c.629C>T p.P210L Missense 7/14 -
1-64515467-C-T ROR1 c.268C>T p.R90C Missense 3/9 -
17-65905767-T-A BPTF c.2882T>A p.I961K Missense 10/28 -
22-38120740-G-A TRIOBP c.2177G>A p.R726Q Missense 7/24 -
17-75196590-C-T SEC14L1 c.844C>T p.R282W Missense 9/17 -
1-15986407-G-A RSC1A1 c.44G>A p.R15H Missense 1/1 -
17-4873729-C-T CAMTA2 c.2911G>A p.E971K Missense 17/23 -
3-156413706-G-A TIPARP c.1139G>A p.R380Q Missense 4/6 -
6-94068088-G-A EPHA7 c.874C>T p.Q292* Nonsense 4/17 -
17-40556742-G-A CAVIN1 c.1136C>T p.S379L Missense 2/2 -
11-1017679-A-C MUC6 c.5122T>G p.S1708A Missense 31/33 -
1-94341302-T-C DNTTIP2 c.1705A>G p.S569G Missense 3/7 -
3-42735277-G-A HHATL c.1080C>T p.S360= Synonymous 10/12 -
13-20398692-A-T ZMYM5 c.1935T>A p.N645K Missense 8/8 -
6-170846402-G-T PSMB1 c.460C>A p.P154T Missense 5/6 -
19-12788111-C-T DHPS c.778G>A p.V260I Missense 6/9 -
19-8528519-G-A HNRNPM c.387G>A p.A129= Synonymous 5/16 -
8-11994791-GG-CT USP17L2 c.1478_1479delCCinsAG p.T493K Missense 1/1 -
19-38230134-G-A ZNF573 c.1257C>T p.C419= Synonymous 5/5 -
1-21798156-C-G NBPF3 c.541C>G p.Q181E Missense 5/15 -
13-42179344-C-T VWA8 c.4946G>A p.R1649Q Missense 40/45 -
2-43793849-G-A THADA c.2299C>T p.H767Y Missense 15/38 -
7-44228536-G-A GCK c.17C>T p.A6V Missense 1/10 -
16-1270758-C-T CACNA1H c.6826C>T p.P2276S Missense 35/35 -
17-27225700-C-T DHRS13 c.893G>A p.R298Q Missense 5/5 -
11-64876918-C-T VPS51 c.1610C>T p.A537V Missense 6/10 -
5-140768938-A-C PCDHGB4 c.1487A>C p.Q496P Missense 1/4 -
3-32032212-C-T ZNF860 c.1641C>T p.F547= Synonymous 2/2 -
1-94502298-G-A ABCA4 c.3860C>T p.A1287V Missense 26/50 -
X-99662678-G-A PCDH19 c.918C>T p.Y306= Synonymous 1/6 -
1-152284334-C-T FLG c.3028G>A p.A1010T Missense 3/3 -
11-55904448-C-T OR8J3 c.747G>A p.T249= Synonymous 2/2 -
14-24424266-C-T DHRS4 c.151C>T p.R51C Missense 2/8 -
6-138539357-A-T PBOV1 c.176T>A p.V59E Missense 1/1 -
2-84676772-C-T SUCLG1 c.201+1G>A - IntronicSNV - 2/8
11-118353193-C-A KMT2A c.4069C>A p.Q1357K Missense 8/36 -
12-9083521-C-T PHC1 c.1103C>T p.S368L Missense 7/15 -
2-234746287-G-A HJURP c.2183C>T p.T728M Missense 9/9 -
7-100228530-C-T TFR2 c.1252G>A p.E418K Missense 9/18 -
1-2237642-G-A SKI c.1951G>A p.D651N Missense 6/7 -
16-74678453-G-A RFWD3 c.973C>T p.R325* Nonsense 5/13 -
7-48626772-G-A ABCA13 c.14528G>A p.R4843H Missense 57/62 -
9-33386431-G-A AQP7 c.377C>T p.A126V Missense 5/8 -
19-50385303-C-T TBC1D17 c.533C>T p.P178L Missense 6/17 -
10-115602153-C-A DCLRE1A c.2614G>T p.A872S Missense 6/9 -
12-58025102-GC-G B4GALNT1 c.263delG p.G88Afs*24 Frameshift 3/11 -
1-240371705-C-T FMN2 c.3593C>T p.P1198L Missense 5/18 -
2-44058971-C-G ABCG5 c.438G>C p.E146D Missense 4/13 -
8-7191394-G-C USP17L1 c.1486G>C p.D496H Missense 1/1 -
21-45999772-T-C KRTAP10-5 c.684A>G p.I228M Missense 1/1 -
19-11727866-G-A ZNF627 c.548G>A p.R183Q Missense 4/4 -
1-208061093-G-A CD34 c.1148C>T p.T383I Missense 8/8 -
5-79616592-T-A SPZ1 c.558T>A p.N186K Missense 1/1 -
12-48378824-C-T COL2A1 c.1787G>A p.R596H Missense 27/54 -
3-184104703-A-G CHRD c.2267A>G p.D756G Missense 17/23 -
20-741775-C-T SLC52A3 c.1305G>A p.A435= Synonymous 5/5 -
19-49355561-G-A PLEKHA4 c.1349C>T p.T450M Missense 13/20 -
4-37636621-C-T RELL1 c.568G>A p.D190N Missense 5/7 -
1-156503827-C-T IQGAP3 c.3847G>A p.V1283M Missense 30/38 -
3-53907062-C-T ACTR8 c.1158G>A p.L386= Synonymous 9/13 -
5-65466494-G-A SREK1 c.1203G>A p.R401= Synonymous 9/12 -
4-71347033-C-T MUC7 c.572C>T p.A191V Missense 3/3 -
X-103498997-TGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA-T ESX1 c.308_343del36 p.L103_P114del InFrameDeletion 2/4 -
15-102185334-G-T TM2D3 c.534C>A p.C178* Nonsense 5/6 -
16-70551549-G-A COG4 c.349C>T p.R117C Missense 3/19 -
19-41782071-C-T HNRNPUL1 c.654C>T p.C218= Synonymous 5/15 -
X-16847720-C-T TXLNG c.691C>T p.R231* Nonsense 5/10 -
20-44483831-C-T ACOT8 c.229G>A p.V77M Missense 2/6 -
19-35501256-C-T GRAMD1A c.498C>T p.A166= Synonymous 6/20 -
2-60695878-G-A BCL11A c.476C>T p.P159L Missense 3/4 -
X-55185632-C-A FAM104B c.50G>T p.G17V Missense 2/3 -
1-110883462-GGCACCATAC-G RBM15 c.1444_1452delCGCACCATA p.R482_I484del InFrameDeletion 1/3 -
19-57868652-C-A ZNF304 c.1415C>A p.A472E Missense 3/3 -
1-22167749-C-T HSPG2 c.9358G>A p.G3120S Missense 71/97 -
11-1018398-GC-TG MUC6 c.4402_4403delGCinsCA p.A1468Q Missense 31/33 -
16-84255910-G-A KCNG4 c.1473C>T p.D491= Synonymous 3/3 -
3-140282892-G-A CLSTN2 c.2572G>A p.A858T Missense 16/17 -
7-100635904-C-T MUC12 c.2060C>T p.T687M Missense 2/12 -
7-142723531-C-T OR9A2 c.689G>A p.R230Q Missense 1/1 -
19-50100602-G-A PRR12 c.3010G>A p.E1004K Missense 4/14 -
16-722293-C-T RHOT2 c.1235C>T p.T412M Missense 15/19 -
16-31927702-G-C ZNF267 c.2132G>C p.S711T Missense 4/4 -
21-44840965-C-T SIK1 c.673G>A p.D225N Missense 7/14 -
3-9990883-G-A PRRT3 c.917C>T p.P306L Missense 2/4 -
19-42473065-T-C ATP1A3 c.2691A>G p.T897= Synonymous 20/23 -
19-36517946-A-T CLIP3 c.308T>A p.I103N Missense 4/14 -
19-9009331-C-T MUC16 c.39142G>A p.G13048S Missense 40/84 -
11-68542898-G-A CPT1A c.1461C>T p.Y487= Synonymous 13/19 -
9-4286043-C-G GLIS3 c.383G>C p.G128A Missense 2/11 -
19-4047803-C-T ZBTB7A c.1702G>A p.G568R Missense 3/3 -
16-70286635-C-T AARS1 c.2896G>A p.V966I Missense 21/21 -
8-103663581-G-A KLF10 c.979C>T p.Q327* Nonsense 3/4 -
6-64431511-C-T EYS c.8416G>A p.E2806K Missense 43/43 -
4-13605657-C-T BOD1L1 c.2867G>A p.R956H Missense 10/26 -
10-12142226-C-T DHTKD1 c.1721C>T p.A574V Missense 9/17 -
14-105414377-C-G AHNAK2 c.7411G>C p.V2471L Missense 7/7 -
6-158323041-G-A SNX9 c.584G>A p.R195H Missense 6/18 -
X-135309484-T-C MAP7D3 c.1993A>G p.K665E Missense 12/19 -
2-39213365-C-T SOS1 c.3602G>A p.R1201Q Missense 23/23 -
13-103382056-T-A CCDC168 c.20991A>T p.K6997N Missense 4/4 -
11-1271659-C-T MUC5B c.13549C>T p.P4517S Missense 31/49 -
19-14150609-G-A IL27RA c.421G>A p.E141K Missense 4/14 -
3-148858058-A-G HPS3 c.485A>G p.K162R Missense 2/17 -
13-21172824-A-G IFT88 c.629A>G p.N210S Missense 10/26 -
1-152281801-A-G FLG c.5561T>C p.V1854A Missense 3/3 -
1-161089929-C-T NIT1 c.624C>T p.F208= Synonymous 6/7 -
5-453772-A-G EXOC3 c.652A>G p.R218G Missense 4/13 -
16-74922102-G-A WDR59 c.2311C>T p.R771C Missense 22/26 -
8-11189402-GC-AA SLC35G5 c.787_788delinsAA p.A263N Missense 1/1 -
13-111176078-C-T RAB20 c.639G>A p.P213= Synonymous 2/2 -
20-61951440-G-A COL20A1 c.2966G>A p.R989Q Missense 24/36 -
17-2276286-G-A SGSM2 c.1828G>A p.G610R Missense 16/24 -
8-145066776-C-T GRINA c.966C>T p.C322= Synonymous 6/7 -
7-100855926-CG-C PLOD3 c.889delC p.R297Gfs*61 Frameshift 9/19 -
11-64003371-G-A VEGFB c.190G>A p.V64M Missense 3/7 -
17-57652790-G-A DHX40 c.931G>A p.D311N Missense 7/18 -
2-7170338-C-T RNF144A c.739C>T p.R247W Missense 8/9 -
9-129595486-G-A ZBTB43 c.698G>A p.S233N Missense 3/3 -
11-694955-GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC-G DEAF1 c.54_92del39 p.V19_A31del InFrameDeletion 1/12 -
13-99948102-C-T GPR183 c.298G>A p.G100R Missense 2/2 -
19-1918155-A-G SCAMP4 c.166A>G p.I56V Missense 4/7 -
18-19995689-C-T CTAGE1 c.2086G>A p.V696M Missense 1/1 -
8-91064079-A-C DECR1 c.962A>C p.Q321P Missense 10/10 -
3-180685917-GAGA-G FXR1 c.1281_1283delAGA p.E427del InFrameDeletion 14/17 -
16-57691341-C-T ADGRG1 c.1224C>T p.Y408= Synonymous 10/14 -
19-10789860-C-T ILF3 c.739C>T p.R247* Nonsense 7/20 -
1-22192278-G-A HSPG2 c.4246C>T p.R1416* Nonsense 34/97 -
1-1262961-C-A CPTP c.463C>A p.R155S Missense 3/3 -
17-1651961-C-T SERPINF2 c.785C>T p.T262M Missense 8/10 -
1-201178433-A-G IGFN1 c.4412A>G p.D1471G Missense 12/24 -
20-61050056-G-A GATA5 c.522C>T p.F174= Synonymous 2/7 -
16-88783023-C-T PIEZO1 c.6870G>A p.R2290= Synonymous 47/51 -
14-75514576-C-T MLH3 c.1783G>A p.V595I Missense 2/13 -
16-71718423-C-T PHLPP2 c.691G>A p.E231K Missense 5/19 -
17-1371181-C-T MYO1C c.2920G>A p.D974N Missense 29/32 -
17-46865232-C-T TTLL6 c.1530G>A p.Q510= Synonymous 11/16 -
22-42998976-G-A POLDIP3 c.250C>T p.R84* Nonsense 2/9 -
22-37964383-ACCCCCCAGCCACTACTGCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGCCG-A CDC42EP1 c.732_815del84 p.P245Nfs*35 InFrameDeletion 3/3 -
11-9009168-T-C NRIP3 c.349A>G p.K117E Missense 3/7 -
19-6763695-C-T SH2D3A c.65G>A p.R22H Missense 2/10 -
7-105662735-G-A CDHR3 c.1917G>A p.G639= Synonymous 14/19 -
17-73949651-G-A ACOX1 c.825C>T p.Y275= Synonymous 7/14 -
19-57956042-G-A ZNF749 c.1526G>A p.R509Q Missense 3/3 -
9-32633045-G-A TAF1L c.2533C>T p.R845* Nonsense 1/1 -
17-44110491-C-T KANSL1 c.2792G>A p.R931Q Missense 13/15 -
12-6879363-G-A PTMS c.237G>A p.L79= Synonymous 4/5 -
6-51503696-C-T PKHD1 c.11457G>A p.L3819= Synonymous 64/67 -
11-30034150-G-A KCNA4 c.76C>T p.R26W Missense 2/2 -
19-49472856-G-A GYS1 c.1903C>T p.R635C Missense 16/16 -
19-20045067-G-A ZNF93 c.1303G>A p.V435I Missense 4/4 -
2-132021922-G-C POTEE c.2894G>C p.C965S Missense 18/18 -
19-2917733-G-A ZNF57 c.1114G>A p.A372T Missense 4/4 -
9-136227273-C-T SURF2 c.650C>T p.T217M Missense 5/6 -
17-46154261-C-T CBX1 c.106G>A p.V36M Missense 2/5 -
16-731498-G-A STUB1 c.419G>A p.R140Q Missense 3/7 -
8-623556-C-T ERICH1 c.796G>A p.V266I Missense 4/6 -
7-74193701-C-T NCF1 c.328C>T p.R110C Missense 4/11 -
17-78092476-C-T GAA c.2671C>T p.R891C Missense 19/20 -
10-88478583-G-A LDB3 c.1957G>A p.G653R Missense 12/14 -
17-48674154-C-T CACNA1G c.3128C>T p.T1043M Missense 16/38 -
10-112269788-G-GT DUSP5 c.759_760insT p.E254* Nonsense 4/4 -
13-98655139-A-G IPO5 c.1399A>G p.T449A Missense 16/29 -
19-40360930-G-A FCGBP c.15478C>T p.R5160C Missense 33/36 -
15-22833541-C-G TUBGCP5 c.17C>G p.P6R Missense 1/23 -
15-24923386-A-T NPAP1 c.2372A>T p.D791V Missense 1/1 -
19-39879018-C-T PAF1 c.947G>A p.R316Q Missense 11/14 -
11-1016968-T-G MUC6 c.5833A>C p.T1945P Missense 31/33 -
16-87782364-A-G KLHDC4 c.421T>C p.F141L Missense 5/12 -
17-80369334-C-T OGFOD3 c.377G>A p.R126H Missense 3/9 -
19-880005-C-T MED16 c.1285G>A p.V429I Missense 8/16 -
7-100683876-T-G MUC17 c.9179T>G p.I3060S Missense 3/13 -
12-124832433-G-A NCOR2 c.4010C>T p.P1337L Missense 32/49 -
X-153033326-C-T PLXNB3 c.1044C>T p.T348= Synonymous 3/36 -
14-77908994-G-A VIPAS39 c.643C>T p.R215* Nonsense 10/20 -
6-116864532-G-A TRAPPC3L c.74C>T p.A25V Missense 2/5 -
12-14993600-G-A ART4 c.632C>T p.S211F Missense 2/3 -
3-49725033-G-A MST1 c.311C>T p.T104M Missense 3/18 -
22-20458247-G-A RIMBP3 c.3055C>T p.R1019C Missense 1/1 -
17-80559182-C-T FOXK2 c.1790C>T p.A597V Missense 9/9 -
19-56126102-C-T ZNF865 c.1118C>T p.T373M Missense 2/2 -
19-23543472-A-T ZNF91 c.2309T>A p.F770Y Missense 4/4 -
X-50127814-C-T DGKK c.2356G>A p.E786K Missense 16/29 -
22-17589323-C-G IL17RA c.1214C>G p.A405G Missense 13/13 -
19-40581014-A-G ZNF780A c.1335T>C p.F445= Synonymous 6/6 -
17-6662991-C-T XAF1 c.179C>T p.T60M Missense 3/7 -
16-30750941-C-T SRCAP c.9580C>T p.R3194C Missense 34/34 -
4-190873347-A-G FRG1 c.164A>G p.E55G Missense 3/9 -
17-7366190-C-T ZBTB4 c.2111G>A p.R704Q Missense 4/4 -
16-88801443-G-A PIEZO1 c.1688C>T p.T563M Missense 14/51 -
11-64460332-C-T NRXN2 c.765G>A p.T255= Synonymous 4/23 -
19-30017512-G-A VSTM2B c.22G>A p.G8S Missense 1/5 -
6-16306907-C-T ATXN1 c.2101G>A p.V701M Missense 8/8 -
14-21702291-C-A HNRNPC c.62G>T p.G21V Missense 3/9 -
3-3137099-C-T IL5RA c.739G>A p.A247T Missense 8/12 -
5-114878829-C-T FEM1C c.362G>A p.R121Q Missense 2/3 -
15-81625271-C-T TMC3 c.2792G>A p.R931Q Missense 22/22 -
X-153660205-C-T ATP6AP1 c.318C>T p.G106= Synonymous 3/10 -
19-20045089-A-G ZNF93 c.1325A>G p.K442R Missense 4/4 -
1-156841483-C-T NTRK1 c.786C>T p.N262= Synonymous 7/17 -
12-65110546-C-T GNS c.1634G>A p.R545Q Missense 14/14 -
11-1017662-G-T MUC6 c.5139C>A p.N1713K Missense 31/33 -
12-48372480-C-T COL2A1 c.2795G>A p.R932Q Missense 42/54 -
3-38751102-T-C SCN10A c.4148A>G p.N1383S Missense 25/28 -
9-138379873-C-T PPP1R26 c.3517C>T p.R1173* Nonsense 4/4 -
15-44128384-T-C WDR76 c.578T>C p.I193T Missense 4/13 -
8-11991206-A-C USP17L7 c.313T>G p.S105A Missense 1/1 -
16-28947847-C-T CD19 c.1010C>T p.T337M Missense 7/15 -
14-58563464-C-T ARMH4 c.2067G>A p.W689* Nonsense 5/8 -
6-152485392-G-C SYNE1 c.23696C>G p.T7899S Missense 131/146 -
19-22154858-AC-CT ZNF208 c.2977_2978delGTinsAG p.V993R Missense 4/4 -
7-100676360-C-G MUC17 c.1663C>G p.P555A Missense 3/13 -
7-107115734-G-A GPR22 c.1229G>A p.R410K Missense 3/3 -
4-90169893-C-T GPRIN3 c.1369G>A p.G457S Missense 2/2 -
1-201178426-A-G IGFN1 c.4405A>G p.R1469G Missense 12/24 -
5-132209445-T-C LEAP2 c.57+2T>C - IntronicSNV - 1/2
16-706396-G-A WDR90 c.2061G>A p.T687= Synonymous 18/41 -
2-173292580-G-A ITGA6 c.64G>A p.A22T Missense 1/26 -
19-53855546-C-T ZNF845 c.1618C>T p.R540C Missense 4/4 -
13-73636599-A-C KLF5 c.862A>C p.M288L Missense 2/4 -
11-70171622-G-A PPFIA1 c.548G>A p.R183Q Missense 5/28 -
19-8576567-G-A ZNF414 c.808C>T p.R270C Missense 5/8 -
16-89777062-C-T VPS9D1 c.1190G>A p.R397H Missense 10/15 -
X-71131125-G-A NHSL2 c.188G>A p.R63H Missense 1/8 -
X-25022803-C-T ARX c.1673G>A p.G558D Missense 5/5 -
14-52741522-G-A PTGDR c.920G>A p.R307Q Missense 2/2 -
9-139401801-T-C NOTCH1 c.3599A>G p.D1200G Missense 22/34 -
11-1262217-C-G MUC5B c.4107C>G p.Y1369* Nonsense 31/49 -
17-2238038-C-T TSR1 c.709G>A p.A237T Missense 5/15 -
2-31414273-T-C CAPN14 c.1279A>G p.M427V Missense 12/22 -
1-22161243-G-A HSPG2 c.10649C>T p.A3550V Missense 77/97 -
X-132162147-C-CT USP26 c.101_101dupA p.K35Efs*3 Frameshift 1/1 -
X-140993698-G-T MAGEC1 c.508G>T p.A170S Missense 4/4 -
9-140972680-C-T CACNA1B c.5064C>T p.F1688= Synonymous 36/47 -
15-42979116-G-T STARD9 c.5340G>T p.W1780C Missense 23/33 -
20-16352317-G-A KIF16B c.3440C>T p.T1147M Missense 21/26 -
6-117896421-C-T GOPC c.569G>A p.R190H Missense 4/9 -
20-35547778-C-T SAMHD1 c.841G>A p.E281K Missense 7/16 -
8-126017898-C-T SQLE c.676C>T p.H226Y Missense 3/11 -
1-89448914-A-G RBMXL1 c.596T>C p.L199P Missense 3/3 -
2-26203957-C-T KIF3C c.830G>A p.G277D Missense 1/8 -
4-435904-C-T ZNF721 c.2352G>A p.K784= Synonymous 3/3 -
8-11994883-C-T USP17L2 c.1387G>A p.V463I Missense 1/1 -
X-152959473-G-A SLC6A8 c.1254+1G>A - IntronicSNV - 8/12
11-72421463-G-A ARAP1 c.1383C>T p.V461= Synonymous 10/35 -
5-126734452-C-T MEGF10 c.744C>T p.H248= Synonymous 7/25 -
7-100644122-C-A MUC12 c.10278C>A p.S3426= Synonymous 2/12 -
6-135787207-A-G AHI1 c.494T>C p.V165A Missense 7/29 -
17-26971122-CA-C KIAA0100 c.151delT p.W51Gfs*77 Frameshift 2/39 -
7-100635814-C-T MUC12 c.1970C>T p.P657L Missense 2/12 -
2-102018963-C-T RFX8 c.1180G>A p.V394M Missense 11/12 -
16-16271462-C-T ABCC6 c.2437G>A p.A813T Missense 19/31 -
20-49366396-G-A PARD6B c.490G>A p.G164S Missense 3/3 -
7-102760458-C-T NAPEPLD c.507G>A p.P169= Synonymous 3/5 -
1-110754322-C-T KCNC4 c.201C>T p.D67= Synonymous 1/4 -
10-97388237-C-T ALDH18A1 c.821G>A p.S274N Missense 8/18 -
14-21702294-A-G HNRNPC c.59T>C p.I20T Missense 3/9 -
2-204305555-G-A RAPH1 c.2358C>T p.P786= Synonymous 14/14 -
17-56833485-C-CCCGAACCCGAGT PPM1E c.131_132insACCCGAGTCCGA p.E44_S45insPESE InFrameInsertion 1/7 -
11-96117560-G-A CCDC82 c.352C>T p.H118Y Missense 4/10 -
4-57840027-C-T NOA1 c.1306G>A p.V436I Missense 2/7 -
3-133356908-C-T TOPBP1 c.2332G>A p.V778I Missense 14/28 -
13-52952849-C-T THSD1 c.1256G>A p.G419D Missense 5/5 -
1-201178360-A-G IGFN1 c.4339A>G p.R1447G Missense 12/24 -
19-42473065-T-A ATP1A3 c.2691A>T p.T897= Synonymous 20/23 -
3-154802095-G-A MME c.139G>A p.A47T Missense 2/23 -
3-49724837-G-A MST1 c.430C>T p.P144S Missense 4/18 -
1-150469373-G-A TARS2 c.1009G>A p.A337T Missense 9/18 -
18-33606927-C-T RPRD1A c.725G>A p.R242Q Missense 6/7 -
1-207642168-C-T CR2 c.658C>T p.R220* Nonsense 4/20 -
4-9783875-C-G DRD5 c.222C>G p.N74K Missense 1/1 -
3-58109397-G-A FLNB c.3704G>A p.G1235E Missense 21/46 -
19-55877496-G-A IL11 c.479C>T p.P160L Missense 5/5 -
18-3729188-G-A DLGAP1 c.1538C>T p.S513L Missense 7/13 -
11-71941900-G-A INPPL1 c.1258G>A p.E420K Missense 11/28 -
4-37636680-G-A RELL1 c.509C>T p.T170M Missense 5/7 -
19-10335260-G-A S1PR2 c.322C>T p.R108W Missense 2/2 -
7-135287579-C-T NUP205 c.2539C>T p.Q847* Nonsense 18/43 -
16-89245884-C-T CDH15 c.103C>T p.R35C Missense 2/14 -
19-43529017-C-T PSG11 c.256G>A p.G86S Missense 2/6 -
17-6909324-C-T ALOX12 c.1396C>T p.R466W Missense 10/14 -
1-27697451-G-A FCN3 c.406C>T p.R136C Missense 6/8 -
14-102552221-C-T HSP90AA1 c.403G>A p.G135S Missense 3/11 -
5-137216524-C-T MYOT c.653C>T p.A218V Missense 5/10 -
11-640003-C-A DRD4 c.754C>A p.R252S Missense 3/4 -
7-100463990-C-T SLC12A9 c.2508C>T p.S836= Synonymous 14/14 -
2-210908736-C-T KANSL1L c.1848G>A p.S616= Synonymous 7/15 -
19-17774372-G-A UNC13A c.528C>T p.N176= Synonymous 8/44 -
9-32420940-G-A ACO1 c.885G>A p.T295= Synonymous 8/21 -
1-63789351-A-C FOXD3 c.622A>C p.N208H Missense 1/1 -
3-49724906-C-T MST1 c.361G>A p.V121I Missense 4/18 -
12-132626051-G-A DDX51 c.1096C>T p.R366C Missense 7/15 -
9-84605891-C-T SPATA31D1 c.506C>T p.S169L Missense 4/4 -
6-28121314-C-T ZKSCAN8 c.1256C>T p.A419V Missense 6/6 -
2-27716856-C-T FNDC4 c.395G>A p.R132Q Missense 4/7 -
1-152084581-TC-AG TCHH c.1111_1112delinsCT p.E371L Missense 3/3 -
6-152631851-C-T SYNE1 c.16868G>A p.R5623H Missense 88/146 -
4-4228276-ACAGCAGCTG-A OTOP1 c.307_315delCAGCTGCTG p.Q103_L105del InFrameDeletion 1/6 -
1-155450475-C-T ASH1L c.2186G>A p.R729Q Missense 3/28 -
7-157926380-C-T PTPRN2 c.1545G>A p.V515= Synonymous 9/23 -
17-29653028-G-A NF1 c.5026G>A p.A1676T Missense 37/58 -
1-156499968-G-A IQGAP3 c.4333C>T p.R1445C Missense 34/38 -
12-49434235-C-T KMT2D c.7318G>A p.V2440I Missense 32/55 -
2-68765227-C-G APLF c.1028C>G p.S343C Missense 7/10 -
11-16776468-C-T C11orf58 c.369C>T p.D123= Synonymous 5/5 -
16-22142600-G-A VWA3A c.1727G>A p.R576Q Missense 18/34 -
2-131976219-G-A POTEE c.244G>A p.A82T Missense 4/18 -
19-1063634-C-T ABCA7 c.5804C>T p.A1935V Missense 43/47 -
1-119958079-C-T HSD3B2 c.37C>T p.L13F Missense 2/4 -
12-65564318-A-G LEMD3 c.942A>G p.G314= Synonymous 1/13 -
19-53856405-G-C ZNF845 c.2477G>C p.S826T Missense 4/4 -
1-22162098-G-A HSPG2 c.10388C>T p.T3463M Missense 76/97 -
7-73521416-C-T LIMK1 c.958C>T p.R320C Missense 8/16 -
1-152284319-C-G FLG c.3043G>C p.G1015R Missense 3/3 -
12-369173-G-A SLC6A13 c.46C>T p.P16S Missense 2/15 -
7-92731987-C-T SAMD9 c.3424G>A p.G1142R Missense 3/3 -
1-173450614-G-A PRDX6 c.245G>A p.W82* Nonsense 2/5 -
2-113674788-T-A IL37 c.228T>A p.N76K Missense 4/6 -
5-158139194-A-T EBF1 c.1517T>A p.L506H Missense 14/16 -
16-30750923-C-T SRCAP c.9562C>T p.R3188C Missense 34/34 -
19-42827784-G-A TMEM145 c.1244G>A p.R415H Missense 14/15 -
6-151152567-G-A PLEKHG1 c.2320G>A p.D774N Missense 16/17 -
1-152281307-G-C FLG c.6055C>G p.H2019D Missense 3/3 -
14-47120361-A-C RPL10L c.579T>G p.D193E Missense 1/1 -
7-131195724-C-T PODXL c.569G>A p.R190Q Missense 2/9 -
1-35334352-C-T DLGAP3 c.2339G>A p.R780H Missense 9/12 -
21-44841887-C-T SIK1 c.304G>A p.V102I Missense 4/14 -
5-177577890-G-A NHP2 c.335C>T p.T112M Missense 3/4 -
22-36689392-C-T MYH9 c.4078G>A p.A1360T Missense 30/41 -
10-23728755-G-T OTUD1 c.369G>T p.R123S Missense 1/1 -
9-95063949-C-T NOL8 c.3059G>A p.C1020Y Missense 13/17 -
19-22940944-C-T ZNF99 c.1767G>A p.G589= Synonymous 4/4 -
2-152426810-C-T NEB c.17215G>A p.D5739N Missense 109/182 -
6-43252034-A-C TTBK1 c.3556A>C p.T1186P Missense 14/15 -
14-25042975-G-A CTSG c.636C>T p.H212= Synonymous 5/5 -
7-102210346-C-T POLR2J3 c.76G>A p.V26I Missense 2/9 -
17-12819224-C-A ARHGAP44 c.283C>A p.L95M Missense 5/21 -
1-152281821-C-T FLG c.5541G>A p.T1847= Synonymous 3/3 -
21-45535197-C-T PWP2 c.523C>T p.R175C Missense 6/21 -
19-23544359-A-G ZNF91 c.1422T>C p.S474= Synonymous 4/4 -
X-120182385-TTCA-T GLUD2 c.851_853delTCA p.I284del InFrameDeletion 1/1 -
9-86293405-C-T UBQLN1 c.821G>A p.R274H Missense 5/11 -
8-72127689-C-T EYA1 c.1530G>A p.A510= Synonymous 16/18 -
19-50154749-C-T SCAF1 c.1103C>T p.S368L Missense 7/11 -
13-103390128-T-C CCDC168 c.12919A>G p.K4307E Missense 4/4 -
7-5416554-C-T TNRC18 c.2532G>A p.P844= Synonymous 8/30 -
1-31660917-G-A NKAIN1 c.172C>T p.R58C Missense 2/7 -
7-2581387-G-A BRAT1 c.1099C>T p.R367C Missense 8/14 -
7-73653261-C-T RFC2 c.751G>A p.V251M Missense 8/11 -
1-25883696-G-A LDLRAP1 c.397G>A p.A133T Missense 4/9 -
1-152285302-T-G FLG c.2060A>C p.N687T Missense 3/3 -
1-147096117-C-T BCL9 c.3638C>T p.S1213L Missense 10/10 -
17-72308275-C-T DNAI2 c.1628C>T p.A543V Missense 12/14 -
22-24718499-C-G SPECC1L c.1551C>G p.S517R Missense 5/17 -
11-64496457-C-T RASGRP2 c.1649G>A p.R550H Missense 15/17 -
3-129238525-C-T IFT122 c.3586C>T p.R1196C Missense 29/30 -
11-100999036-C-T PGR c.766G>A p.V256I Missense 1/8 -
12-111801068-C-T PHETA1 c.164G>A p.R55H Missense 3/3 -
1-147091483-C-T BCL9 c.1522C>T p.R508W Missense 8/10 -
20-33000324-C-T ITCH c.216C>T p.I72= Synonymous 5/25 -
X-148059896-C-T AFF2 c.3481C>T p.R1161* Nonsense 18/21 -
17-40273186-G-A KAT2A c.137C>T p.P46L Missense 1/18 -
10-17750779-A-C STAM c.1214A>C p.Y405S Missense 13/14 -
9-139700564-C-T CCDC183 c.983C>T p.T328M Missense 10/14 -
13-32653025-C-T FRY c.125C>T p.T42M Missense 2/61 -
8-39466599-A-G ADAM18 c.227A>G p.N76S Missense 4/20 -
4-88535804-A-G DSPP c.1990A>G p.N664D Missense 5/5 -
12-49440542-C-T KMT2D c.4268G>A p.R1423H Missense 16/55 -
3-49725253-C-T MST1 c.172G>A p.G58R Missense 2/18 -
1-201180767-A-G IGFN1 c.6746A>G p.D2249G Missense 12/24 -
7-2979407-GT-G CARD11 c.839delA p.N280Tfs*86 Frameshift 6/25 -
9-35107952-G-A FAM214B c.320C>T p.P107L Missense 3/9 -
1-89448868-A-T RBMXL1 c.642T>A p.Y214* Nonsense 3/3 -
1-153949460-T-G JTB c.113A>C p.K38T Missense 2/5 -
1-20964499-G-A PINK1 c.552G>A p.V184= Synonymous 2/8 -
22-41634490-C-T CHADL c.586G>A p.V196M Missense 3/6 -
3-14523208-C-T SLC6A6 c.1581C>T p.Y527= Synonymous 14/15 -
1-109804972-G-A CELSR2 c.4450G>A p.V1484M Missense 6/34 -
10-121189899-C-CT GRK5 c.546_547insT p.K183* Nonsense 7/16 -
14-105612177-TC-T JAG2 c.2842delG p.E948Sfs*94 Frameshift 23/26 -
16-88889054-G-A GALNS c.1307C>T p.T436M Missense 12/14 -
2-228564075-G-A SLC19A3 c.356C>T p.A119V Missense 3/6 -
3-47046486-G-A NBEAL2 c.6319G>A p.V2107M Missense 39/54 -
12-14993451-G-A ART4 c.781C>T p.H261Y Missense 2/3 -
11-56511079-A-C OR9G4 c.209T>G p.L70W Missense 1/1 -
1-155887455-C-T KHDC4 c.1275G>A p.M425I Missense 11/14 -
22-20786090-G-A SCARF2 c.276C>T p.C92= Synonymous 3/14 -
10-43316002-G-A BMS1 c.2816G>A p.R939Q Missense 17/23 -
1-176760499-C-G PAPPA2 c.4901C>G p.T1634S Missense 19/23 -
7-100637691-A-G MUC12 c.3847A>G p.T1283A Missense 2/12 -
2-1499888-G-A TPO c.2134G>A p.G712S Missense 12/17 -
15-22383199-C-T OR4N4 c.727C>T p.R243C Missense 1/1 -
3-195508537-AC-GA MUC4 c.9913_9914delinsTC p.V3305S Missense 2/25 -
20-42088752-G-A SRSF6 c.461G>A p.R154H Missense 4/6 -
1-201179821-G-A IGFN1 c.5800G>A p.E1934K Missense 12/24 -
8-63939741-T-C GGH c.359A>G p.Q120R Missense 4/9 -
22-38120698-A-G TRIOBP c.2135A>G p.N712S Missense 7/24 -
7-100678499-T-A MUC17 c.3802T>A p.L1268M Missense 3/13 -
22-38120965-T-C TRIOBP c.2402T>C p.L801P Missense 7/24 -
19-49993506-G-A RPL13A c.106G>A p.V36I Missense 3/8 -
2-27604527-G-A PPM1G c.1580C>T p.S527F Missense 10/10 -
17-28417521-C-T EFCAB5 c.3766C>T p.R1256C Missense 20/23 -
1-109856992-C-T SORT1 c.2372G>A p.R791Q Missense 19/20 -
8-11991076-A-G USP17L7 c.443T>C p.V148A Missense 1/1 -
3-64527541-G-A ADAMTS9 c.5170C>T p.R1724* Nonsense 33/40 -
11-1017470-GC-CT MUC6 c.5330_5331delGCinsAG p.G1777E Missense 31/33 -
19-19822168-T-C ZNF14 c.1922A>G p.K641R Missense 4/4 -
7-100224907-C-T TFR2 c.1975G>A p.E659K Missense 16/18 -
8-89198753-C-T MMP16 c.356G>A p.R119Q Missense 3/10 -
5-140503099-G-A PCDHB4 c.1519G>A p.A507T Missense 1/1 -
1-152278770-ATG-CCA FLG c.8590_8592delinsTGG p.H2864W Missense 3/3 -
15-43476575-G-A TMEM62 c.1723G>A p.V575I Missense 14/14 -
10-85960420-G-A CDHR1 c.502G>A p.G168R Missense 6/17 -
11-1018303-G-A MUC6 c.4498C>T p.P1500S Missense 31/33 -
19-47870349-A-G DHX34 c.1705A>G p.S569G Missense 7/17 -
9-71628906-C-T PRKACG c.103G>A p.A35T Missense 1/1 -
5-140516139-G-A PCDHB5 c.1123G>A p.G375R Missense 1/1 -
5-16762158-C-T MYO10 c.1652G>A p.G551E Missense 16/41 -
2-198950680-G-A PLCL1 c.2439G>A p.T813= Synonymous 2/6 -
22-39413851-G-C APOBEC3C c.255G>C p.K85N Missense 3/4 -
15-52258219-C-T LEO1 c.541G>A p.D181N Missense 2/12 -
19-3282465-C-T CELF5 c.1008C>T p.T336= Synonymous 8/13 -
15-100739581-G-A ADAMTS17 c.1123C>T p.L375F Missense 8/22 -
19-1789688-GGCGCGCGGCTCCTTCCGCAGGGACACCA-G ATP8B3 c.2489_2516del28 p.L830Pfs*6 Frameshift 23/29 -
16-1258118-C-T CACNA1H c.3260C>T p.T1087I Missense 16/35 -
20-31767426-G-A BPIFA2 c.662G>A p.R221H Missense 7/9 -
13-20797228-G-A GJB6 c.392C>T p.S131L Missense 5/5 -
3-44489913-C-T ZNF445 c.1250G>A p.C417Y Missense 8/8 -
1-22175164-C-T HSPG2 c.7709G>A p.R2570H Missense 59/97 -
7-126409979-G-A GRM8 c.1297C>T p.R433* Nonsense 7/11 -
X-27999081-C-T DCAF8L1 c.371G>A p.G124D Missense 1/1 -
2-25463173-C-T DNMT3A c.2320G>A p.E774K Missense 19/23 -
16-4431252-G-A VASN c.374G>A p.R125H Missense 2/2 -
8-61193650-A-C CA8 c.57T>G p.D19E Missense 1/9 -
1-43200780-C-T CLDN19 c.652G>A p.A218T Missense 5/5 -
16-1250477-A-G CACNA1H c.1025A>G p.Q342R Missense 7/35 -
14-34269361-C-T NPAS3 c.1848C>T p.R616= Synonymous 12/12 -
2-65559129-C-T SPRED2 c.430G>A p.V144I Missense 4/6 -
11-64678543-C-T ATG2A c.1433G>A p.R478H Missense 10/41 -
3-125216763-C-T SNX4 c.464G>A p.R155Q Missense 4/14 -
7-100634905-A-T MUC12 c.1061A>T p.H354L Missense 2/12 -
1-201178357-T-G IGFN1 c.4336T>G p.L1446V Missense 12/24 -
2-198353881-C-T HSPD1 c.1060G>A p.D354N Missense 9/12 -
14-24003308-G-A ZFHX2 c.1227C>T p.P409= Synonymous 2/10 -
11-129744735-C-T NFRKB c.1931G>A p.R644Q Missense 19/27 -
19-39423196-C-T MRPS12 c.273C>T p.A91= Synonymous 3/3 -
X-128948665-G-C ZDHHC9 c.594C>G p.V198= Synonymous 6/11 -
17-77769230-C-T CBX8 c.374G>A p.R125Q Missense 5/5 -
11-73067339-G-A ARHGEF17 c.3783G>A p.A1261= Synonymous 6/21 -
8-7196170-A-G USP17L4 c.1534A>G p.T512A Missense 1/1 -
12-105556583-T-A WASHC4 c.3117T>A p.N1039K Missense 30/33 -
19-56133341-G-A ZNF784 c.748C>T p.R250C Missense 2/2 -
19-48244181-A-G EHD2 c.1124A>G p.K375R Missense 6/6 -
1-201022605-C-T CACNA1S c.3777G>A p.T1259= Synonymous 30/44 -
1-175325569-C-G TNR c.3004G>C p.V1002L Missense 16/23 -
7-99909416-C-G SPDYE3 c.588C>G p.C196W Missense 4/11 -
1-183259286-C-T NMNAT2 c.298G>A p.E100K Missense 4/11 -
16-920754-C-T LMF1 c.1207G>A p.V403I Missense 8/11 -
7-120979353-G-A WNT16 c.1052G>A p.R351H Missense 4/4 -
3-195935376-C-T ZDHHC19 c.464G>A p.R155H Missense 4/8 -
17-20013841-G-A SPECC1 c.249G>A p.S83= Synonymous 3/15 -
19-4544397-C-T SEMA6B c.1883G>A p.R628Q Missense 17/17 -
5-140035428-C-T IK c.652C>T p.R218* Nonsense 9/20 -
19-53014481-A-G ZNF578 c.847A>G p.S283G Missense 6/6 -
15-30659679-G-A CHRFAM7A c.662C>T p.T221M Missense 9/10 -
19-45418171-C-T APOC1 c.23C>T p.P8L Missense 2/4 -
12-58207035-G-A AVIL c.313C>T p.R105C Missense 3/19 -
1-152084510-G-GCTC TCHH c.1182_1183insGAG p.Q394_L395insE InFrameInsertion 3/3 -
9-140036576-C-T GRIN1 c.370C>T p.R124C Missense 2/20 -
2-109392258-C-T RANBP2 c.8363C>T p.P2788L Missense 24/29 -
7-157151331-C-T DNAJB6 c.65C>T p.A22V Missense 2/10 -
11-48510919-C-T OR4A47 c.575C>T p.A192V Missense 1/1 -
1-161012380-C-T USF1 c.139G>A p.V47I Missense 4/11 -
11-10615137-G-A IRAG1 c.2077C>T p.R693C Missense 17/21 -
19-22271309-A-G ZNF257 c.757A>G p.R253G Missense 4/4 -
18-42532045-C-T SETBP1 c.2740C>T p.R914W Missense 4/6 -
21-46951450-G-A SLC19A1 c.802C>T p.R268C Missense 3/6 -
1-248185794-C-G OR2L5 c.545C>G p.A182G Missense 2/2 -
12-49445445-G-A KMT2D c.2021C>T p.P674L Missense 11/55 -
7-100684200-A-C MUC17 c.9503A>C p.Y3168S Missense 3/13 -
1-6511791-G-A ESPN c.2044G>A p.G682R Missense 9/13 -
11-4127320-C-T RRM1 c.153C>T p.V51= Synonymous 3/19 -
1-22157719-G-A HSPG2 c.11551C>T p.R3851W Missense 84/97 -
3-43641999-C-T ANO10 c.214G>A p.V72I Missense 3/13 -
15-42967930-C-T STARD9 c.1756C>T p.R586W Missense 19/33 -
15-33446037-G-A FMN1 c.1079C>T p.A360V Missense 4/21 -
4-185550578-C-A CASP3 c.682G>T p.D228Y Missense 8/8 -
3-9057395-C-T SRGAP3 c.1699G>A p.D567N Missense 15/22 -
1-152733323-C-T KPRP c.1259C>T p.P420L Missense 2/2 -
1-201180054-G-A IGFN1 c.6033G>A p.G2011= Synonymous 12/24 -
7-127229205-A-T ARF5 c.136A>T p.I46F Missense 2/6 -
19-41307229-G-A EGLN2 c.752G>A p.R251Q Missense 2/6 -
9-132584958-C-T TOR1A c.346G>A p.A116T Missense 2/5 -
19-9361978-G-C OR7E24 c.259G>C p.A87P Missense 1/1 -
13-111563089-G-A ANKRD10 c.239C>T p.A80V Missense 2/6 -
11-121028621-C-T TECTA c.4377C>T p.C1459= Synonymous 14/24 -
12-125570980-C-T AACS c.463C>T p.R155W Missense 4/18 -
4-89425507-G-A HERC5 c.2707G>A p.E903K Missense 21/23 -
9-139571956-C-T AGPAT2 c.235G>A p.E79K Missense 2/6 -
16-31927711-G-A ZNF267 c.2141G>A p.R714K Missense 4/4 -
3-195507166-A-T MUC4 c.11285T>A p.L3762H Missense 2/25 -
14-24546431-C-T CPNE6 c.1368C>T p.I456= Synonymous 15/17 -
1-245852090-G-A KIF26B c.5805G>A p.P1935= Synonymous 12/15 -
22-38328831-G-A MICALL1 c.2170G>A p.D724N Missense 12/16 -
15-41865996-G-A TYRO3 c.2265G>A p.P755= Synonymous 18/19 -
1-231700443-G-A TSNAX c.665G>A p.R222H Missense 6/6 -
16-28856342-C-T TUFM c.449G>A p.C150Y Missense 4/10 -
X-9716625-A-T GPR143 c.537T>A p.P179= Synonymous 4/9 -
9-135152456-C-T SETX c.6926G>A p.R2309Q Missense 22/26 -
2-271936-G-C ACP1 c.114G>C p.E38D Missense 2/6 -
19-1112485-C-T SBNO2 c.2431G>A p.D811N Missense 21/32 -
9-33401235-C-T AQP7 c.26G>A p.R9Q Missense 2/8 -
20-44181876-C-T WFDC8 c.485G>A p.R162H Missense 5/6 -
3-195510821-A-G MUC4 c.7630T>C p.S2544P Missense 2/25 -
7-100225888-C-T TFR2 c.1432G>A p.G478S Missense 11/18 -
2-223773609-C-T ACSL3 c.119C>T p.P40L Missense 4/17 -
1-234743259-G-C IRF2BP2 c.1388C>G p.S463C Missense 2/2 -
2-38604315-C-A ATL2 c.88G>T p.V30F Missense 1/13 -
12-3921333-CA-C PARP11 c.972delT p.F324Lfs*11 Frameshift 8/8 -
X-153668756-C-T GDI1 c.622C>T p.R208C Missense 6/11 -
12-67699565-T-C CAND1 c.2117T>C p.M706T Missense 10/15 -
12-11286360-C-T TAS2R30 c.484G>A p.V162M Missense 1/1 -
20-47872459-A-T ZNFX1 c.2690T>A p.M897K Missense 9/14 -
8-7834438-C-G USP17L3 c.1070G>C p.C357S Missense 1/1 -
20-61341023-C-T NTSR1 c.464C>T p.T155M Missense 1/4 -
6-169637363-C-T THBS2 c.1379G>A p.R460H Missense 9/22 -
2-211459236-T-C CPS1 c.1169T>C p.L390P Missense 12/38 -
3-180334640-G-T CCDC39 c.2380C>A p.P794T Missense 17/20 -
2-219614037-G-A TTLL4 c.2662G>A p.E888K Missense 14/20 -
22-26165090-G-A MYO18B c.1207G>A p.G403R Missense 4/44 -
2-21228198-C-T APOB c.11542G>A p.A3848T Missense 26/29 -
4-89384738-C-T HERC5 c.744C>T p.V248= Synonymous 5/23 -
9-33301323-C-T NFX1 c.1096C>T p.R366C Missense 3/24 -
5-140589939-A-C PCDHB12 c.1460A>C p.N487T Missense 1/1 -
16-700364-T-G WDR90 c.388+2T>G - IntronicSNV - 4/40
12-112910816-C-A PTPN11 c.825C>A p.N275K Missense 7/16 -
1-11900219-G-A CLCN6 c.2549G>A p.R850Q Missense 23/23 -
16-726977-G-A RHBDL1 c.433G>A p.V145M Missense 4/8 -
15-91492019-C-T UNC45A c.1873C>T p.P625S Missense 13/20 -
16-5140182-C-G EEF2KMT c.645G>C p.K215N Missense 6/8 -
7-796447-C-T DNAAF5 c.1286C>T p.T429M Missense 6/13 -
4-1019049-G-C FGFRL1 c.1429G>C p.D477H Missense 7/7 -
9-140508108-G-A ARRDC1 c.322G>A p.V108M Missense 4/8 -
12-6636180-G-A NCAPD2 c.2858G>A p.R953Q Missense 22/32 -
20-42979422-C-T R3HDML c.752C>T p.T251M Missense 5/5 -
3-48506045-G-A ATRIP c.2039G>A p.C680Y Missense 11/13 -
8-22880329-G-A TNFRSF10B c.1178C>T p.T393I Missense 9/9 -
11-74413874-T-C CHRDL2 c.1085A>G p.D362G Missense 9/11 -
2-131976262-A-G POTEE c.287A>G p.N96S Missense 4/18 -
1-11854865-G-A MTHFR c.1087C>T p.R363C Missense 7/12 -
1-120302555-C-T HMGCS2 c.617G>A p.R206H Missense 3/10 -
20-60793558-C-T HRH3 c.406G>A p.V136I Missense 2/3 -
X-2994704-C-T ARSF c.277C>T p.R93* Nonsense 4/11 -
19-47342047-C-T AP2S1 c.277G>A p.E93K Missense 4/5 -
21-45513973-C-T TRAPPC10 c.3027C>T p.F1009= Synonymous 20/23 -
19-56241248-G-A NLRP9 c.1943C>T p.A648V Missense 3/9 -
10-73765635-G-A CHST3 c.35G>A p.R12Q Missense 2/3 -
16-89951029-C-A TCF25 c.394C>A p.Q132K Missense 3/18 -
7-100680786-G-A MUC17 c.6089G>A p.G2030E Missense 3/13 -
5-1320770-C-T CLPTM1L c.1493G>A p.R498Q Missense 16/17 -
11-60899800-G-A VPS37C c.560C>T p.P187L Missense 5/5 -
17-18827258-G-A PRPSAP2 c.765G>A p.T255= Synonymous 10/12 -
2-112944812-C-T FBLN7 c.1049C>T p.T350M Missense 8/8 -
6-53519206-C-T KLHL31 c.865G>A p.V289I Missense 2/3 -
9-136504971-G-A DBH c.343G>A p.A115T Missense 2/12 -
2-207345962-C-A ADAM23 c.439C>A p.H147N Missense 3/26 -
12-133434093-C-T CHFR c.964G>A p.E322K Missense 9/18 -
19-307421-G-A MIER2 c.1314C>T p.P438= Synonymous 13/14 -
3-195511139-C-T MUC4 c.7312G>A p.V2438I Missense 2/25 -
17-39190943-A-C KRTAP1-3 c.131T>G p.F44C Missense 1/1 -
19-47585441-C-T ZC3H4 c.1330G>A p.G444S Missense 10/15 -
1-38297917-C-T MTF1 c.1068G>A p.T356= Synonymous 7/11 -
3-195510889-G-A MUC4 c.7562C>T p.A2521V Missense 2/25 -
1-145578275-T-C PIAS3 c.238T>C p.L80= Synonymous 2/14 -
3-195511212-G-C MUC4 c.7239C>G p.H2413Q Missense 2/25 -
16-30732548-C-T SRCAP c.3292C>T p.R1098W Missense 21/34 -
6-65532667-A-T EYS c.3041T>A p.L1014H Missense 20/43 -
14-105517963-C-T GPR132 c.511G>A p.G171R Missense 4/4 -
15-50152610-G-C ATP8B4 c.3360C>G p.T1120= Synonymous 28/28 -
11-57577663-G-T CTNND1 c.2518G>T p.E840* Nonsense 16/21 -
21-36206775-G-A RUNX1 c.737C>T p.T246M Missense 7/9 -
19-58132308-A-G ZNF134 c.821A>G p.N274S Missense 3/3 -
3-195507145-A-G MUC4 c.11306T>C p.V3769A Missense 2/25 -
16-29898970-C-T SEZ6L2 c.1208G>A p.R403Q Missense 7/18 -
7-63808939-G-A ZNF736 c.698G>A p.G233E Missense 4/4 -
12-123889579-G-A KMT5A c.806G>A p.G269D Missense 7/8 -
2-113943688-C-T PSD4 c.1484C>T p.T495M Missense 5/17 -
2-231307786-G-A SP100 c.242G>A p.R81H Missense 3/29 -
17-80436743-C-T NARF c.588C>T p.S196= Synonymous 6/11 -
7-5401283-C-T TNRC18 c.4603G>A p.A1535T Missense 14/30 -
12-49445472-G-A KMT2D c.1994C>T p.P665L Missense 11/55 -
15-56148349-C-T NEDD4 c.1006G>A p.E336K Missense 12/29 -
19-53303413-C-T ZNF28 c.1685G>A p.R562H Missense 4/4 -
7-44555759-G-A NPC1L1 c.3557C>T p.T1186I Missense 17/19 -
10-112341856-G-A SMC3 c.723G>A p.E241= Synonymous 9/29 -
22-38120229-C-T TRIOBP c.1666C>T p.R556W Missense 7/24 -
2-84756209-G-A DNAH6 c.581G>A p.R194H Missense 4/77 -
10-129903675-G-GT MKI67 c.6428_6429insA p.T2144Hfs*10 Frameshift 13/15 -
6-99856022-C-T PNISR c.799G>A p.E267K Missense 7/12 -
1-9165549-A-C GPR157 c.788T>G p.L263R Missense 3/4 -
21-44592223-C-T CRYAA c.355C>T p.R119C Missense 3/3 -
3-184019343-A-G PSMD2 c.376A>G p.I126V Missense 4/21 -
1-12248895-C-T TNFRSF1B c.121C>T p.R41W Missense 2/10 -
18-55024422-C-T ST8SIA3 c.581C>T p.T194M Missense 3/4 -
11-1016604-AC-GA MUC6 c.6196_6197delGTinsTC p.V2066S Missense 31/33 -
19-23926943-C-A ZNF681 c.1409G>T p.R470I Missense 4/4 -
X-48386832-G-A EBP c.680G>A p.S227N Missense 5/5 -
10-91404921-A-G PANK1 c.139T>C p.W47R Missense 1/7 -
1-40033458-C-A PABPC4 c.937G>T p.E313* Nonsense 7/16 -
20-44672322-T-A SLC12A5 c.1288T>A p.S430T Missense 10/26 -
7-72985585-C-T TBL2 c.812G>A p.R271Q Missense 6/7 -
17-8064967-C-T VAMP2 c.241G>A p.A81T Missense 3/5 -
1-248525291-G-C OR2T4 c.409G>C p.V137L Missense 1/1 -
11-110036168-C-T ZC3H12C c.2358C>T p.A786= Synonymous 6/6 -
X-68058575-C-T EFNB1 c.244C>T p.R82W Missense 2/5 -
12-55969028-C-A OR2AP1 c.830C>A p.T277N Missense 2/2 -
19-2227114-G-A DOT1L c.4594G>A p.G1532S Missense 27/28 -
14-56128253-G-A KTN1 c.3013G>A p.E1005K Missense 32/44 -
4-88537170-A-G DSPP c.3356A>G p.D1119G Missense 5/5 -
11-66260231-C-T DPP3 c.1033C>T p.R345W Missense 10/18 -
9-34306378-G-A KIF24 c.685C>T p.R229* Nonsense 3/13 -
19-2191025-G-A DOT1L c.279G>A p.T93= Synonymous 5/28 -
8-145770709-GA-G ARHGAP39 c.2444delT p.F815Sfs*27 Frameshift 5/11 -
16-396464-C-T AXIN1 c.562G>A p.E188K Missense 2/11 -
19-51171560-C-T SHANK1 c.3657G>A p.S1219= Synonymous 23/24 -
2-71206930-A-C ANKRD53 c.557A>C p.N186T Missense 3/6 -
4-113362095-A-G ALPK1 c.3561A>G p.K1187= Synonymous 15/16 -
5-142680307-A-T NR3C1 c.1490T>A p.I497K Missense 5/9 -
19-33470983-C-T RHPN2 c.1980G>A p.S660= Synonymous 15/15 -
3-47142974-C-T SETD2 c.4989G>A p.T1663= Synonymous 8/21 -
16-4747373-C-T ANKS3 c.1855G>A p.E619K Missense 16/18 -
2-97530559-C-T SEMA4C c.845G>A p.R282Q Missense 9/15 -
17-27287984-G-A SEZ6 c.1248C>T p.C416= Synonymous 6/17 -
3-9425984-G-A THUMPD3 c.1324G>A p.V442I Missense 9/10 -
19-42854331-G-A MEGF8 c.2531G>A p.R844H Missense 15/42 -
2-29296170-G-A PCARE c.958C>T p.R320C Missense 1/2 -
19-42473065-T-G ATP1A3 c.2691A>C p.T897= Synonymous 20/23 -
12-51752025-C-T GALNT6 c.1389G>A p.S463= Synonymous 9/12 -
12-102813324-C-T IGF1 c.365G>A p.R122H Missense 3/4 -
2-63660881-C-G WDPCP c.823G>C p.E275Q Missense 9/18 -
15-25924615-C-T ATP10A c.4373G>A p.R1458Q Missense 21/21 -
3-5024938-G-A BHLHE40 c.800G>A p.R267H Missense 5/5 -
X-140993695-G-T MAGEC1 c.505G>T p.A169S Missense 4/4 -
19-41745198-C-T AXL c.1264C>T p.P422S Missense 9/20 -
22-16449769-C-T OR11H1 c.36G>A p.M12I Missense 1/1 -
7-27169902-G-A HOXA4 c.451C>T p.P151S Missense 1/2 -
14-105410632-T-C AHNAK2 c.11156A>G p.E3719G Missense 7/7 -
7-142723665-G-A OR9A2 c.555C>T p.C185= Synonymous 1/1 -
1-43308271-C-T ERMAP c.796C>T p.R266W Missense 12/12 -
1-21799365-A-C NBPF3 c.691A>C p.K231Q Missense 6/15 -
X-47060979-G-A UBA1 c.781G>A p.G261R Missense 8/26 -
6-45459743-C-T RUNX2 c.751C>T p.R251C Missense 6/9 -
1-45295323-C-T PTCH2 c.1046G>A p.S349N Missense 8/22 -
19-50105131-C-T PRR12 c.4729C>T p.R1577W Missense 6/14 -
12-11285924-C-T TAS2R30 c.920G>A p.R307H Missense 1/1 -
15-26825508-C-T GABRB3 c.640G>A p.V214M Missense 6/9 -
14-39649729-C-T PNN c.816C>T p.I272= Synonymous 9/9 -
3-111432879-G-A PLCXD2 c.770G>A p.R257Q Missense 3/5 -
19-56133211-G-A ZNF784 c.878C>T p.A293V Missense 2/2 -
1-36553672-CA-TG TEKT2 c.1178_1179delinsTG p.T393M Missense 10/10 -
19-40480218-C-T PSMC4 c.340C>T p.R114C Missense 4/11 -
10-112360248-C-T SMC3 c.2479C>T p.R827* Nonsense 22/29 -
3-195511006-A-T MUC4 c.7445T>A p.L2482H Missense 2/25 -
9-135977357-C-T RALGDS c.2179G>A p.V727I Missense 15/18 -
12-52309017-G-A ACVRL1 c.781G>A p.A261T Missense 7/10 -
5-194837-C-T LRRC14B c.914C>T p.P305L Missense 2/2 -
10-88679129-G-A BMPR1A c.1069G>A p.A357T Missense 10/13 -
1-186276052-A-C PRG4 c.1201A>C p.T401P Missense 7/13 -
9-128001003-C-T HSPA5 c.1100G>A p.R367Q Missense 6/8 -
8-30612299-C-T UBXN8 c.400C>T p.L134F Missense 4/9 -
1-66379026-GT-G PDE4B c.29delT p.V10Gfs*15 Frameshift 2/17 -
3-195512606-G-C MUC4 c.5845C>G p.H1949D Missense 2/25 -
10-103371071-C-T FBXW4 c.1216G>A p.V561I Missense 9/9 -
15-50190432-C-G ATP8B4 c.2306G>C p.S769T Missense 22/28 -
3-195513145-A-G MUC4 c.5306T>C p.V1769A Missense 2/25 -
1-21011401-G-A KIF17 c.2132C>T p.P711L Missense 10/15 -
1-180953864-G-A STX6 c.640C>T p.R214W Missense 7/8 -
11-71941304-C-T INPPL1 c.1079C>T p.T360M Missense 9/28 -
4-88535831-GA-AG DSPP c.2017_2018delGAinsAG p.D673S Missense 5/5 -
22-18065380-C-T SLC25A18 c.251C>T p.A84V Missense 6/11 -
10-134015467-C-T DPYSL4 c.1128C>T p.D376= Synonymous 11/14 -
2-241536280-G-A CAPN10 c.1664G>A p.R555H Missense 9/12 -
1-17257059-CC-GT CROCC c.819_820delinsGT p.H273_R274delinsQW MultiAAMissense 7/37 -
10-129903678-C-G MKI67 c.6426G>C p.Q2142H Missense 13/15 -
3-195511396-G-T MUC4 c.7055C>A p.P2352H Missense 2/25 -
9-140158730-C-T NELFB c.817C>T p.R321W Missense 6/13 -
1-161203023-C-T NR1I3 c.344G>A p.R115Q Missense 4/9 -
17-39021184-G-A KRT12 c.681C>T p.G227= Synonymous 3/8 -
22-43289574-G-A PACSIN2 c.106C>T p.R36C Missense 3/11 -
20-42355251-C-T GTSF1L c.84G>A p.S28= Synonymous 1/1 -
9-32448928-G-A ACO1 c.2405G>A p.R802H Missense 20/21 -
9-139412311-G-A NOTCH1 c.1334C>T p.T445M Missense 8/34 -
14-36783804-C-T MBIP c.485G>A p.R162Q Missense 4/9 -
10-102749156-G-A TWNK c.1189G>A p.D397N Missense 1/5 -
3-135820888-C-T PPP2R3A c.2967C>T p.D989= Synonymous 11/14 -
6-150291254-G-A ULBP1 c.728G>A p.G243D Missense 4/5 -
2-189925454-A-T COL5A2 c.2085+2T>A - IntronicSNV - 31/53
17-72954786-C-T HID1 c.1222G>A p.D408N Missense 10/19 -
10-12199945-C-T SEC61A2 c.816C>T p.Y272= Synonymous 9/12 -
X-70823524-G-A GCNA c.397G>A p.G133S Missense 8/13 -
6-138745387-G-A NHSL1 c.4652C>T p.S1551F Missense 8/8 -
15-90212742-C-T PLIN1 c.760G>A p.V254M Missense 6/9 -
19-7117408-G-A INSR c.3808C>T p.R1270C Missense 22/22 -
21-42830598-C-T MX1 c.1902C>T p.S634= Synonymous 17/17 -
19-54312862-G-A NLRP12 c.2051C>T p.A684V Missense 3/10 -
12-133244150-AAGG-A POLE c.2255_2257delCCT p.S752del InFrameDeletion 20/49 -
7-100637673-A-G MUC12 c.3829A>G p.S1277G Missense 2/12 -
19-21476402-T-C ZNF708 c.1366A>G p.T456A Missense 4/4 -
15-33191067-C-T FMN1 c.3682G>A p.V1228I Missense 15/21 -
22-38120900-G-GCCTCCAGA TRIOBP c.2337_2338insCCTCCAGA p.T780Pfs*102 Frameshift 7/24 -
22-49103603-A-G TAFA5 c.337A>G p.N113D Missense 3/4 -
17-50008429-G-A CA10 c.200C>T p.S67L Missense 3/9 -
11-1619274-C-A KRTAP5-2 c.207G>T p.W69C Missense 1/1 -
18-19995662-A-G CTAGE1 c.2113T>C p.S705P Missense 1/1 -
17-66535479-T-C FAM20A c.1360A>G p.M454V Missense 10/11 -
20-60891953-C-T LAMA5 c.7638G>A p.A2546= Synonymous 56/80 -
20-62198504-C-T HELZ2 c.2207G>A p.R736H Missense 7/20 -
1-55525186-G-A PCSK9 c.1531G>A p.A511T Missense 10/12 -
17-67111008-G-A ABCA6 c.1677C>T p.G559= Synonymous 13/39 -
11-1017599-G-C MUC6 c.5202C>G p.S1734R Missense 31/33 -
1-55521680-C-T PCSK9 c.814C>T p.R272W Missense 6/12 -
1-43395434-C-T SLC2A1 c.697G>A p.G233R Missense 6/10 -
9-136081315-G-A OBP2B c.503C>T p.P168L Missense 6/7 -
5-32786413-C-T NPR3 c.1588C>T p.R530W Missense 8/8 -
8-145111924-C-T OPLAH c.1633G>A p.V545M Missense 12/28 -
6-150239424-GGAGCATATGAGGAGACACATGATGAGGAGGCAGCAAAGGATGAGGGTGGTGGCCGTGGC-G RAET1G c.659_737del79 p.A224Qfs*37 Frameshift 4/5 -
3-197420682-G-A RUBCN c.1690C>T p.R564W Missense 11/20 -
2-61331129-G-A SANBR c.1507G>A p.V503I Missense 13/22 -
11-82644860-T-C DDIAS c.2480T>C p.I827T Missense 6/6 -
5-34937551-G-A DNAJC21 c.559G>A p.E187K Missense 5/12 -
19-58290748-G-A ZNF586 c.793G>A p.V265I Missense 3/3 -
X-48775081-G-A PIM2 c.199C>T p.R67C Missense 3/6 -
5-140564001-G-T PCDHB16 c.1867G>T p.E623* Nonsense 1/1 -
2-220089492-G-A ATG9A c.601C>T p.R201C Missense 8/16 -
6-10687303-G-A C6orf52 c.166C>T p.L56F Missense 3/5 -
11-5565854-G-A OR52H1 c.900C>T p.Y300= Synonymous 2/2 -
12-50188683-G-A NCKAP5L c.2960C>T p.A987V Missense 8/13 -
14-102449918-C-T DYNC1H1 c.1433C>T p.A478V Missense 7/78 -
1-161192772-C-T APOA2 c.121G>A p.V41M Missense 3/4 -
1-235600676-C-T TBCE c.1003C>T p.R335W Missense 12/17 -
9-34372046-C-T MYORG c.896G>A p.R299H Missense 2/2 -
7-33019989-C-T FKBP9 c.717C>T p.P239= Synonymous 5/10 -
6-170627667-T-C FAM120B c.1189T>C p.S397P Missense 2/11 -
5-173416554-G-A C5orf47 c.288G>A p.S96= Synonymous 1/5 -
19-12060371-GT-AG ZNF700 c.1532_1533delGTinsAG p.S511K Missense 4/4 -
11-3239249-C-T MRGPRG c.795G>A p.S265= Synonymous 1/1 -
5-169025522-G-A SPDL1 c.1075G>A p.G359S Missense 9/12 -
1-21805886-A-G NBPF3 c.1201A>G p.S401G Missense 10/15 -
15-58938351-C-T ADAM10 c.638G>A p.R213H Missense 6/16 -
X-70824032-C-T GCNA c.905C>T p.S302L Missense 8/13 -
1-155448822-C-T ASH1L c.3839G>A p.R1280Q Missense 3/28 -
4-9784908-A-C DRD5 c.1255A>C p.T419P Missense 1/1 -
14-99642104-C-T BCL11B c.1069G>A p.D357N Missense 4/4 -
2-54895554-G-T SPTBN1 c.6943G>T p.A2315S Missense 36/36 -
1-152192775-T-A HRNR c.1330A>T p.T444S Missense 3/3 -
8-11990447-C-T USP17L7 c.1072G>A p.G358S Missense 1/1 -
1-186276568-C-A PRG4 c.1717C>A p.P573T Missense 7/13 -
10-94397186-C-T KIF11 c.2044C>T p.L682= Synonymous 16/22 -
15-84909046-TG-CA GOLGA6L4 c.709_710delTGinsCA p.C314H Missense 6/9 -
19-47570284-G-A ZC3H4 c.3241C>T p.R1081W Missense 15/15 -
20-25205903-G-A ENTPD6 c.1306G>A p.V436I Missense 14/15 -
1-152282468-T-G FLG c.4894A>C p.N1632H Missense 3/3 -
15-79586821-G-A ANKRD34C c.1195G>A p.G399S Missense 2/2 -
19-55853647-C-T KMT5C c.175C>T p.R59W Missense 3/9 -
4-85750273-G-A WDFY3 c.840C>T p.V280= Synonymous 9/68 -
19-37005329-A-G ZNF260 c.812T>C p.I271T Missense 3/3 -
5-10992668-C-T CTNND2 c.3206G>A p.R1069H Missense 19/22 -
4-8417647-C-T ACOX3 c.224G>A p.R75H Missense 3/18 -
5-140953085-G-A DIAPH1 c.2332C>T p.Q778* Nonsense 16/28 -
7-73467535-C-T ELN c.992C>T p.P331L Missense 18/33 -
19-49230356-C-T RASIP1 c.1931G>A p.R644Q Missense 7/12 -
1-27101294-G-A ARID1A c.4576G>A p.V1526M Missense 18/20 -
17-40269499-C-T KAT2A c.1544G>A p.R515Q Missense 10/18 -
7-101892122-C-T CUX1 c.4318C>T p.P1440S Missense 24/24 -
11-58206930-C-T OR5B12 c.695G>A p.R232H Missense 2/2 -
1-152192394-G-A HRNR c.1711C>T p.R571C Missense 3/3 -
1-201180199-GT-AC IGFN1 c.6178_6179delGTinsAC p.V2060T Missense 12/24 -
16-8994476-C-T USP7 c.2220G>A p.P740= Synonymous 21/31 -
8-90937687-C-T OSGIN2 c.1577C>T p.T526I Missense 6/6 -
19-51191310-G-A SHANK1 c.2178C>T p.N726= Synonymous 18/24 -
7-32598699-AGTC-A AVL9 c.838_840delGTC p.V280del InFrameDeletion 10/16 -
12-58196029-C-T AVIL c.2065G>A p.D689N Missense 16/19 -
15-102264365-C-A TARS3 c.226G>T p.A76S Missense 1/19 -
5-891829-C-T BRD9 c.193G>A p.E65K Missense 2/16 -
20-13763292-A-T ESF1 c.495T>A p.N165K Missense 2/14 -
11-61977995-G-A SCGB2A1 c.166G>A p.A56T Missense 2/3 -
6-52878617-C-T CILK1 c.995G>A p.R332Q Missense 9/14 -
5-10618562-G-A ANKRD33B c.484G>A p.A162T Missense 2/4 -
7-93055847-G-A CALCR c.1246C>T p.R416C Missense 14/14 -
7-100780311-G-A SERPINE1 c.1117G>A p.E373K Missense 8/9 -
9-99699477-C-T NUTM2G c.1114C>T p.P372S Missense 5/7 -
19-49951141-C-T PIH1D1 c.424G>A p.V142M Missense 5/9 -
3-44763346-G-C ZNF502 c.1037G>C p.S346T Missense 3/3 -
16-24583639-C-G RBBP6 c.5252C>G p.A1751G Missense 18/18 -
1-44446914-G-A B4GALT2 c.82G>A p.V28I Missense 2/7 -
3-122287543-C-T DTX3L c.607C>T p.P203S Missense 3/5 -
12-11175060-G-C TAS2R19 c.111C>G p.N37K Missense 1/1 -
15-43021301-GA-G CDAN1 c.2564delT p.F855Sfs*12 Frameshift 19/28 -
11-71950937-G-A PHOX2A c.711C>T p.G237= Synonymous 3/3 -
6-128561269-C-A PTPRK c.604G>T p.G202W Missense 5/30 -
2-132021688-A-G POTEE c.2660A>G p.D887G Missense 18/18 -
11-1018401-T-C MUC6 c.4400A>G p.H1467R Missense 31/33 -
11-57099257-G-A SSRP1 c.1108C>T p.R370C Missense 9/17 -
13-53418857-G-A PCDH8 c.3051C>T p.V1017= Synonymous 3/3 -
11-62415898-G-T INTS5 c.1654C>A p.L552M Missense 2/2 -
10-61829988-C-T ANK3 c.10651G>A p.D3551N Missense 37/44 -
14-21543610-C-T ARHGEF40 c.1570C>T p.P524S Missense 4/24 -
19-12154708-C-T ZNF878 c.1508G>A p.G503E Missense 4/4 -
12-4920527-G-A KCNA6 c.1320G>A p.S440= Synonymous 1/2 -
6-41010728-C-T TSPO2 c.4C>T p.R2W Missense 2/4 -
X-135427780-A-G ADGRG4 c.1915A>G p.T639A Missense 6/26 -
18-9256635-G-A ANKRD12 c.3370G>A p.E1124K Missense 9/13 -
2-75106023-G-A HK2 c.1240G>A p.G414S Missense 9/18 -
11-65178819-G-A FRMD8 c.1383G>A p.L461= Synonymous 11/11 -
4-9245693-C-G USP17L17 c.89C>G p.A30G Missense 1/1 -
19-20044448-A-C ZNF93 c.684A>C p.P228= Synonymous 4/4 -
1-12854098-G-T PRAMEF1 c.322G>T p.V108F Missense 3/4 -
19-52133085-C-T SIGLEC5 c.421+1G>A - IntronicSNV - 2/8
3-53531364-C-T CACNA1D c.253C>T p.R85C Missense 2/48 -
16-31200999-C-T FUS c.950C>T p.T317M Missense 10/15 -
6-52288805-G-A EFHC1 c.125G>A p.R42H Missense 2/11 -
3-195505906-GT-AG MUC4 c.12544_12545delinsCT p.T4182L Missense 2/25 -
18-29038467-C-T DSG3 c.276C>T p.I92= Synonymous 4/16 -
22-45939366-C-T FBLN1 c.1281C>T p.S427= Synonymous 11/17 -
17-39305625-T-C KRTAP4-5 c.395A>G p.H132R Missense 1/1 -
15-42110259-G-T MAPKBP1 c.1957G>T p.G653C Missense 17/31 -
13-99127079-G-A STK24 c.593C>T p.S198L Missense 5/11 -
3-49933162-C-T MST1R c.2948G>A p.R983Q Missense 12/20 -
7-70255159-G-A AUTS2 c.2957G>A p.R986Q Missense 19/19 -
9-136342228-C-T SLC2A6 c.391G>A p.G131S Missense 3/10 -
17-51900507-A-C KIF2B c.113A>C p.D38A Missense 1/1 -
11-6423807-TC-T APBB1 c.1252delG p.E418Kfs*14 Frameshift 7/15 -
16-89874701-C-T FANCA c.596+1G>A - IntronicSNV - 6/42
2-60688333-G-A BCL11A c.1714C>T p.R572C Missense 4/4 -
17-39305655-C-T KRTAP4-5 c.365G>A p.R122H Missense 1/1 -
7-19738018-C-T POLR1F c.938G>A p.R313K Missense 4/4 -
3-93768354-C-T ARL13B c.1129C>T p.P377S Missense 8/10 -
3-49723115-C-T MST1 c.1301G>A p.R434Q Missense 11/18 -
1-152280936-C-T FLG c.6426G>A p.P2142= Synonymous 3/3 -
17-62856573-C-T LRRC37A3 c.3691G>A p.V1231I Missense 12/15 -
13-21557739-CT-C LATS2 c.2105delA p.K702Rfs*4 Frameshift 5/8 -
9-139973828-G-A UAP1L1 c.964G>A p.G322R Missense 5/9 -
11-57466516-G-A ZDHHC5 c.1608G>A p.L536= Synonymous 11/12 -
1-24134780-C-T HMGCL c.595G>A p.E199K Missense 7/9 -
X-21996108-G-A SMS c.536G>A p.R179Q Missense 6/11 -
16-11933554-C-T RSL1D1 c.1144G>A p.E382K Missense 8/9 -
3-195509987-C-T MUC4 c.8464G>A p.A2822T Missense 2/25 -
12-53691636-G-A PFDN5 c.210G>A p.M70I Missense 4/6 -
20-61990990-G-A CHRNA4 c.138C>T p.S46= Synonymous 2/6 -
19-53058113-A-G ZNF808 c.1944A>G p.E648= Synonymous 5/5 -
19-53668375-C-T ZNF665 c.1368G>A p.K456= Synonymous 4/4 -
19-23544955-G-T ZNF91 c.826C>A p.L276I Missense 4/4 -
6-165715075-C-T C6orf118 c.736G>A p.E246K Missense 2/9 -
10-43606702-C-T RET c.1311C>T p.N437= Synonymous 7/20 -
2-24952646-C-T NCOA1 c.3163C>T p.R1055* Nonsense 17/23 -
8-85717017-G-A RALYL c.345G>A p.K115= Synonymous 4/9 -
5-140031713-C-T IK c.217C>T p.R73* Nonsense 4/20 -
14-20925252-G-A APEX1 c.542G>A p.R181Q Missense 5/5 -
1-21795189-C-T NBPF3 c.142C>T p.P48S Missense 3/15 -
14-103395767-G-A AMN c.654G>A p.A218= Synonymous 7/12 -
7-150837173-C-T AGAP3 c.1774C>T p.R592* Nonsense 13/18 -
2-37316910-C-T GPATCH11 c.253C>T p.R63C Missense 3/9 -
12-675137-C-T NINJ2 c.379G>A p.G81S Missense 2/4 -
1-175067548-G-A TNN c.1936G>A p.A646T Missense 9/19 -
3-113858411-C-T DRD3 c.659G>A p.R220Q Missense 5/7 -
2-172584922-T-C DYNC1I2 c.1251T>C p.H417= Synonymous 13/18 -
2-230910821-C-T SLC16A14 c.1021G>A p.V341I Missense 4/5 -
X-99662827-C-T PCDH19 c.769G>A p.V257I Missense 1/6 -
21-44840992-C-T SIK1 c.646G>A p.V216I Missense 7/14 -
4-88536263-GATAGCGACAGCAGCA-G DSPP c.2455_2469del15 p.D819_S823del InFrameDeletion 5/5 -
4-119625104-G-T METTL14 c.753G>T p.W251C Missense 9/11 -
8-144548006-A-T ZC3H3 c.2188T>A p.S730T Missense 9/12 -
2-113999621-C-T PAX8 c.565G>A p.A189T Missense 6/12 -
3-10858098-C-T SLC6A11 c.148C>T p.R50C Missense 1/14 -
7-100637686-C-T MUC12 c.3842C>T p.T1281I Missense 2/12 -
14-100758928-C-T SLC25A29 c.604G>A p.V202M Missense 4/4 -
16-67644869-C-T CTCF c.134C>T p.T45M Missense 3/12 -
8-7190272-T-G USP17L1 c.364T>G p.C122G Missense 1/1 -
19-12502775-C-T ZNF799 c.437G>A p.R146H Missense 4/4 -
17-33521102-C-A SLC35G3 c.225G>T p.W75C Missense 1/1 -
9-135946921-C-G CEL c.2041C>G p.P678A Missense 11/11 -
20-25204793-G-A ENTPD6 c.1243G>A p.V415M Missense 13/15 -
3-52429059-G-A DNAH1 c.10952G>A p.R3651H Missense 68/78 -
16-88747926-G-A SNAI3 c.273C>T p.S91= Synonymous 2/3 -
1-155209829-G-A GBA c.155C>T p.S52L Missense 3/11 -
19-58370430-G-A ZNF587 c.650G>A p.R217H Missense 3/3 -
3-38156512-G-A DLEC1 c.3824G>A p.R1275Q Missense 27/37 -
19-23926945-T-C ZNF681 c.1407A>G p.K469= Synonymous 4/4 -
15-59009846-GT-G ADAM10 c.135delA p.K45Nfs*18 Frameshift 2/16 -
7-93090243-T-A CALCR c.538A>T p.R180W Missense 8/14 -
15-77057303-C-T SCAPER c.1724G>A p.R575K Missense 14/32 -
3-151163900-G-C IGSF10 c.3869C>G p.P1290R Missense 6/8 -
12-50513849-C-T COX14 c.23C>T p.A8V Missense 2/2 -
17-56353006-C-T MPO c.1262G>A p.R421Q Missense 8/12 -
14-100118844-G-C HHIPL1 c.539G>C p.G180A Missense 2/9 -
19-23159220-C-T ZNF728 c.919G>A p.A307T Missense 4/4 -
8-109455911-C-T EMC2 c.24C>T p.Y8= Synonymous 1/11 -
14-71444781-G-A PCNX1 c.1727G>A p.R576Q Missense 6/36 -
X-73963270-C-T NEXMIF c.1122G>A p.G374= Synonymous 3/4 -
7-64388306-A-T ZNF273 c.600A>T p.Q200H Missense 4/4 -
19-6475761-C-T DENND1C c.781G>A p.A261T Missense 12/23 -
16-89877407-G-C FANCA c.356C>G p.S119C Missense 4/43 -
1-231339666-G-A TRIM67 c.1588G>A p.V530I Missense 6/10 -
8-7190308-T-C USP17L1 c.400T>C p.W134R Missense 1/1 -
19-44890674-A-G ZNF285 c.1733T>C p.L578P Missense 4/4 -
12-53452939-C-T TNS2 c.1514C>T p.P505L Missense 18/29 -
16-30780598-G-A RNF40 c.2339G>A p.R780Q Missense 16/20 -
22-41922402-G-A ACO2 c.1898G>A p.R633H Missense 15/18 -
17-33310065-G-A LIG3 c.41G>A p.R14H Missense 2/20 -
22-30051615-G-A NF2 c.549G>A p.M183I Missense 6/16 -
8-117868492-C-T RAD21 c.850G>A p.V284I Missense 8/14 -
7-5401318-C-T TNRC18 c.4568G>A p.R1523H Missense 14/30 -
19-12060380-A-G ZNF700 c.1541A>G p.E514G Missense 4/4 -
1-152279974-T-C FLG c.7388A>G p.H2463R Missense 3/3 -
10-102116299-C-T SCD c.658C>T p.P220S Missense 5/6 -
14-21878015-T-C CHD8 c.2359A>G p.R787G Missense 11/38 -
21-34121007-G-A PAXBP1 c.1726C>T p.R576* Nonsense 11/18 -
12-9256872-T-G A2M c.1229A>C p.N410T Missense 11/36 -
21-47409551-G-A COL6A1 c.888G>A p.G296= Synonymous 10/35 -
10-71021005-G-A HKDC1 c.2327G>A p.R776Q Missense 16/18 -
7-5567486-T-C ACTB c.1021A>G p.I341V Missense 6/6 -
5-148407854-C-T SH3TC2 c.1441G>A p.D481N Missense 11/17 -
1-152327063-A-G FLG2 c.3199T>C p.Y1067H Missense 3/3 -
16-67470505-G-A HSD11B2 c.817G>A p.V273M Missense 5/5 -
15-59464193-C-T MYO1E c.2383G>A p.G795R Missense 22/28 -
12-52470762-T-C ATG101 c.445T>C p.C149R Missense 4/4 -
16-56544770-C-T BBS2 c.534+1G>A - IntronicSNV - 4/16
2-128945144-C-T UGGT1 c.4598C>T p.T1533M Missense 40/41 -
1-149898357-C-T SF3B4 c.617G>A p.R206H Missense 3/6 -
12-39124093-C-T CPNE8 c.790G>A p.V264I Missense 11/20 -
15-99434581-C-T IGF1R c.668C>T p.A223V Missense 3/21 -
4-113189560-C-T AP1AR c.904C>T p.R302* Nonsense 10/10 -
16-599138-C-T CAPN15 c.1595C>T p.T532M Missense 5/14 -
5-96503589-C-T RIOK2 c.979G>A p.E327K Missense 8/10 -
19-17443751-C-T ANO8 c.574G>A p.D192N Missense 5/18 -
20-31767473-G-A BPIFA2 c.709G>A p.D237N Missense 7/9 -
1-226026409-C-T EPHX1 c.419C>T p.T140I Missense 4/9 -
8-30669900-C-T PPP2CB c.38G>A p.W13* Nonsense 1/7 -
12-48398092-C-G COL2A1 c.13G>C p.G5R Missense 1/54 -
3-195511667-C-T MUC4 c.6784G>A p.A2262T Missense 2/25 -
5-140229282-A-T PCDHA9 c.1202A>T p.Y401F Missense 1/4 -
19-44635462-T-A ZNF225 c.695T>A p.F232Y Missense 5/5 -
3-44795758-C-T KIAA1143 c.211G>A p.E71K Missense 2/3 -
4-88537178-A-G DSPP c.3364A>G p.N1122D Missense 5/5 -
4-338202-T-C ZNF141 c.209T>C p.I70T Missense 3/4 -
11-1271657-C-A MUC5B c.13547C>A p.T4516K Missense 31/49 -
3-42265167-G-A TRAK1 c.2800G>A p.V934M Missense 16/16 -
15-74032774-C-T INSYN1 c.366G>A p.S122= Synonymous 3/3 -
14-51375669-C-T PYGL c.2182G>A p.E728K Missense 18/20 -
7-151842344-G-A KMT2C c.14068C>T p.R4690* Nonsense 54/59 -
17-33935314-G-A AP2B1 c.433G>A p.V145M Missense 5/22 -
15-73995251-T-C CD276 c.557T>C p.L186P Missense 4/10 -
12-55969079-A-T OR2AP1 c.881A>T p.Q294L Missense 2/2 -
X-73962809-C-T NEXMIF c.1583G>A p.R528K Missense 3/4 -
22-43570360-C-T TTLL12 c.1084G>A p.E362K Missense 8/14 -
10-61112053-C-T FAM13C c.301G>A p.G101R Missense 3/14 -
6-13620462-G-A NOL7 c.523G>A p.V175I Missense 6/8 -
10-91222253-C-T SLC16A12 c.83G>A p.R28K Missense 3/8 -
7-137569837-C-T CREB3L2 c.1174G>A p.G392S Missense 10/12 -
6-43275393-G-T CRIP3 c.285C>A p.F95L Missense 4/8 -
15-91025233-A-G IQGAP1 c.3371A>G p.H1124R Missense 27/38 -
1-22181841-C-T HSPG2 c.5953G>A p.A1985T Missense 47/97 -
16-30794763-C-T ZNF629 c.886G>A p.G296R Missense 3/3 -
9-33385103-G-A AQP7 c.929C>T p.T310M Missense 8/8 -
X-34150199-T-A FAM47A c.197A>T p.E66V Missense 1/1 -
1-154560602-G-A ADAR c.3018C>T p.N1006= Synonymous 11/15 -
16-30732092-C-T SRCAP c.3046C>T p.R1016W Missense 20/34 -
4-40351406-G-A CHRNA9 c.873G>A p.P291= Synonymous 4/5 -
19-51728548-C-T CD33 c.112C>T p.L38F Missense 2/7 -
10-68686977-C-T LRRTM3 c.303C>T p.D101= Synonymous 2/3 -
10-79750924-G-A POLR3A c.2789C>T p.A930V Missense 21/31 -
2-84954958-C-T DNAH6 c.10138C>T p.R3380C Missense 61/77 -
20-55012399-G-A CASS4 c.216G>A p.T72= Synonymous 2/6 -
14-100759128-A-G SLC25A29 c.404T>C p.L135P Missense 4/4 -
19-4037836-G-A PIAS4 c.1496G>A p.R499H Missense 11/11 -
14-64498054-G-A SYNE2 c.7200G>A p.E2400= Synonymous 45/116 -
10-70450936-C-T TET1 c.5776C>T p.P1926S Missense 12/12 -
10-127685159-G-A FANK1 c.439G>A p.A147T Missense 5/11 -
8-7190902-G-A USP17L1 c.994G>A p.D332N Missense 1/1 -
12-53041536-T-C KRT2 c.1226A>G p.E409G Missense 6/9 -
2-220422131-C-T OBSL1 c.4000G>A p.G1334R Missense 12/21 -
3-51395449-C-T DOCK3 c.4825C>T p.R1609W Missense 46/53 -
6-136888814-C-T MAP3K5 c.3716G>A p.R1239Q Missense 26/30 -
X-153220610-G-A HCFC1 c.3240C>T p.C1080= Synonymous 17/26 -
1-179561767-G-A TDRD5 c.17G>A p.R6H Missense 2/18 -
8-11990900-A-G USP17L7 c.619T>C p.Y207H Missense 1/1 -
20-60884849-T-C LAMA5 c.10871A>G p.Q3624R Missense 79/80 -
2-127826569-G-A BIN1 c.450C>T p.Y150= Synonymous 6/19 -
9-84607033-C-T SPATA31D1 c.1648C>T p.P550S Missense 4/4 -
7-100856443-C-T PLOD3 c.722G>A p.R241Q Missense 7/19 -
12-53069266-C-T KRT1 c.1646G>A p.R549H Missense 9/9 -
19-58265280-A-C ZNF776 c.782A>C p.K261T Missense 3/3 -
11-20622869-C-T SLC6A5 c.198C>T p.D66= Synonymous 2/16 -
3-195509401-AT-GC MUC4 c.9049_9050delinsGC p.I3017A Missense 2/25 -
1-48865184-C-T SPATA6 c.619G>A p.E207K Missense 7/13 -
19-57839645-G-A ZNF543 c.815G>A p.R272Q Missense 4/4 -
8-10467550-T-C RP1L1 c.4058A>G p.E1353G Missense 4/4 -
6-161532927-G-A MAP3K4 c.4456G>A p.V1486I Missense 24/27 -
3-156877638-T-G CCNL1 c.246A>C p.L82F Missense 1/11 -
4-79462132-A-G FRAS1 c.11893A>G p.N3965D Missense 74/74 -
11-67225884-C-T CABP4 c.694C>T p.R232W Missense 5/6 -
16-30018407-G-A DOC2A c.659C>T p.A220V Missense 7/11 -
1-152327251-G-A FLG2 c.3011C>T p.S1004F Missense 3/3 -
10-63852089-G-A ARID5B c.2867G>A p.R956Q Missense 10/10 -
5-75954380-G-A IQGAP2 c.2417G>A p.R806Q Missense 21/36 -
19-1556821-C-T MEX3D c.697G>A p.V233M Missense 2/2 -
16-14969087-C-T NOMO1 c.2249C>T p.S750L Missense 19/31 -
19-36297966-T-A PRODH2 c.883A>T p.S219C Missense 5/10 -
13-113980289-G-A GRTP1 c.680C>T p.T227M Missense 6/8 -
2-99439644-G-A CRACDL c.1092C>T p.P364= Synonymous 7/10 -
19-35836593-G-A CD22 c.2297G>A p.R766H Missense 12/14 -
4-39236495-C-T WDR19 c.2363C>T p.A788V Missense 20/37 -
1-182443519-C-T RGSL1 c.1273C>T p.R425C Missense 6/22 -
1-185259890-C-CT SWT1 c.2658_2659insT p.K887* Nonsense 19/19 -
12-33579158-C-T SYT10 c.424G>A p.A142T Missense 2/7 -
7-23300113-G-T GPNMB c.739G>T p.D247Y Missense 6/11 -
1-32742015-G-A LCK c.709G>A p.E237K Missense 8/13 -
1-27056236-C-T ARID1A c.1232C>T p.P411L Missense 2/20 -
22-30163407-C-A UQCR10 c.20C>A p.T7N Missense 1/2 -
12-121151124-C-T UNC119B c.292C>T p.R98C Missense 2/5 -
9-27949161-G-A LINGO2 c.1509C>T p.F503= Synonymous 7/7 -
19-1528365-C-T PLK5 c.266C>T p.P89L Missense 8/14 -
7-64389272-T-C ZNF273 c.1566T>C p.A522= Synonymous 4/4 -
15-70351148-C-A TLE3 c.772G>T p.A258S Missense 11/20 -
9-123875984-G-A CNTRL c.1327G>A p.E443K Missense 10/44 -
17-48736617-C-T ABCC3 c.694C>T p.R232W Missense 7/31 -
17-48917231-C-T WFIKKN2 c.582C>T p.H194= Synonymous 2/2 -
9-131072146-A-G TRUB2 c.679T>C p.C227R Missense 8/8 -
8-53558314-C-T RB1CC1 c.3935G>A p.R1312K Missense 16/24 -
8-55372118-A-T SOX17 c.808A>T p.M270L Missense 2/2 -
8-101154082-C-T FBXO43 c.400G>A p.E134K Missense 2/5 -
11-640064-G-A DRD4 c.815G>A p.G272D Missense 3/4 -
16-16244559-C-T ABCC6 c.4279G>A p.E1427K Missense 30/31 -
2-60688471-C-T BCL11A c.1576G>A p.E526K Missense 4/4 -
1-145415683-G-A HJV c.502G>A p.A168T Missense 3/4 -
2-152497129-G-A NEB c.8425C>T p.R2809* Nonsense 61/182 -
11-1271864-C-T MUC5B c.13754C>T p.P4585L Missense 31/49 -
19-58863703-C-T A1BG c.559G>A p.D187N Missense 4/8 -
X-55514607-CA-C USP51 c.765delT p.F255Lfs*20 Frameshift 3/3 -
7-64438941-C-T ZNF117 c.1008G>A p.E336= Synonymous 4/4 -
19-57868480-G-A ZNF304 c.1243G>A p.G415R Missense 3/3 -
12-106632968-G-A CKAP4 c.1643C>T p.A548V Missense 2/2 -
13-47469853-C-T HTR2A c.189G>A p.P63= Synonymous 2/4 -
2-129025806-C-T HS6ST1 c.1166G>A p.R389Q Missense 2/2 -
11-119183263-G-A MCAM c.835C>T p.P279S Missense 7/16 -
1-152084549-G-C TCHH c.1144C>G p.Q382E Missense 3/3 -
1-152084513-G-C TCHH c.1180C>G p.Q394E Missense 3/3 -
1-74540443-G-C LRRIQ3 c.899C>G p.S300C Missense 6/8 -
11-7110655-C-T RBMXL2 c.304C>T p.R102C Missense 1/1 -
1-152280946-C-T FLG c.6416G>A p.R2139H Missense 3/3 -
1-165712486-G-C TMCO1 c.539C>G p.S129C Missense 6/7 -
22-50685109-C-T HDAC10 c.1570G>A p.G524R Missense 16/20 -
5-140554571-C-T PCDHB7 c.2155C>T p.P719S Missense 1/1 -
13-73357614-C-T PIBF1 c.7C>T p.R3* Nonsense 2/18 -
11-67201945-A-C RPS6KB2 c.1145A>C p.Q382P Missense 13/15 -
6-35436613-C-T RPL10A c.43C>T p.R15W Missense 2/6 -
17-36891606-G-A PCGF2 c.905C>T p.P302L Missense 11/11 -
19-19765998-C-T ATP13A1 c.1585G>A p.V529M Missense 12/26 -
19-46288852-C-T DMWD c.1902G>A p.A634= Synonymous 3/5 -
19-42373123-C-T RPS19 c.195C>T p.Y65= Synonymous 4/6 -
X-124029892-C-T TENM1 c.416G>A p.R139Q Missense 2/32 -
20-44598108-C-T ZNF335 c.424G>A p.G142R Missense 3/28 -
9-107331656-G-A OR13C8 c.208G>A p.D70N Missense 1/1 -
6-25762199-C-T SLC17A4 c.9C>T p.T3= Synonymous 2/12 -
16-1273573-G-A TPSG1 c.95C>T p.S32L Missense 3/6 -
19-58868615-T-C ZNF497 c.387A>G p.T129= Synonymous 3/3 -
12-48741828-T-A ZNF641 c.46A>T p.M16L Missense 2/6 -
5-37019480-C-A NIPBL c.4988C>A p.T1663N Missense 25/47 -
11-55032585-GA-AT TRIM48 c.254_255delinsAT p.R85H Missense 2/6 -
20-18523722-C-A SEC23B c.1571C>A p.A524E Missense 14/20 -
14-105413516-CG-GC AHNAK2 c.8271_8272delinsGC p.N2757_V2758delinsKL MultiAAMissense 7/7 -
X-70823719-G-A GCNA c.592G>A p.D198N Missense 8/13 -
X-114427162-G-A RBMXL3 c.3158G>A p.R1053H Missense 1/1 -
1-155205047-C-T GBA c.1444G>A p.D482N Missense 10/11 -
16-1557654-C-T TELO2 c.2344C>T p.P782S Missense 20/21 -
17-79477823-T-C ACTG1 c.1021A>G p.I341V Missense 6/6 -
1-152285294-T-C FLG c.2068A>G p.S690G Missense 3/3 -
19-53014964-C-T ZNF578 c.1330C>T p.R444C Missense 6/6 -
3-49349017-A-G USP4 c.766T>C p.S256P Missense 7/22 -
1-44365286-G-A ST3GAL3 c.631G>A p.E211K Missense 9/12 -
17-79993879-G-A DCXR c.692C>T p.T231M Missense 8/8 -
1-164761953-C-T PBX1 c.488C>T p.T163M Missense 3/9 -
14-105417103-G-A AHNAK2 c.4685C>T p.P1562L Missense 7/7 -
12-10783822-G-A STYK1 c.273C>T p.S91= Synonymous 5/11 -
8-56699328-G-C TGS1 c.871G>C p.D291H Missense 4/13 -
4-146567305-G-A MMAA c.730G>A p.V244I Missense 4/7 -
16-2514204-C-T TEDC2 c.1129C>T p.L377= Synonymous 9/10 -
16-87446214-G-A ZCCHC14 c.1702C>T p.P705S Missense 12/13 -
11-36300124-G-A COMMD9 c.220C>T p.R74C Missense 3/6 -
17-4053247-G-A CYB5D2 c.313G>A p.V105I Missense 2/4 -
2-240969798-G-A OR6B2 c.49C>T p.L17F Missense 1/1 -
9-121971050-G-A BRINP1 c.1092C>T p.F364= Synonymous 7/8 -
17-1581823-G-A PRPF8 c.1843C>T p.R615C Missense 13/43 -
18-44757329-T-C SKOR2 c.2795A>G p.K932R Missense 5/9 -
7-73480044-G-A ELN c.2014G>A p.A672T Missense 30/33 -
16-57775719-A-G KATNB1 c.161A>G p.N54S Missense 3/20 -
8-23156424-C-T LOXL2 c.2170G>A p.D724N Missense 13/14 -
4-114278644-C-T ANK2 c.8870C>T p.S2957F Missense 38/46 -
6-24701767-C-T ACOT13 c.347C>T p.T116I Missense 3/3 -
2-55920814-C-T PNPT1 c.145G>A p.V49M Missense 1/28 -
2-69734616-C-T AAK1 c.2101G>A p.D701N Missense 15/22 -
8-7190507-G-A USP17L1 c.599G>A p.C200Y Missense 1/1 -
18-19029756-C-T GREB1L c.1679C>T p.A560V Missense 12/33 -
14-103371613-C-T TRAF3 c.1199C>T p.A400V Missense 12/12 -
19-10943889-C-T TMED1 c.466G>A p.E156K Missense 4/4 -
12-6442966-C-T TNFRSF1A c.259G>A p.G87S Missense 3/10 -
4-141446649-C-T ELMOD2 c.67C>T p.R23* Nonsense 2/9 -
18-43450609-C-T EPG5 c.6148G>A p.A2050T Missense 36/44 -
20-45315691-C-T TP53RK c.463G>A p.D155N Missense 2/2 -
2-16743284-C-T CYRIA c.424G>A p.D142N Missense 6/12 -
11-12525936-G-A PARVA c.737G>A p.R206Q Missense 6/13 -
1-32742054-C-T LCK c.748C>T p.R250W Missense 8/13 -
1-161310401-C-T SDHC c.197C>T p.A66V Missense 4/6 -
10-120801755-T-A EIF3A c.3277A>T p.M1093L Missense 19/22 -
4-16040587-G-C PROM1 c.258C>G p.S86= Synonymous 3/28 -
9-140260994-G-C EXD3 c.607C>G p.L203V Missense 7/22 -
15-75580622-C-T GOLGA6D c.481C>T p.R161C Missense 7/18 -
3-184099597-A-G CHRD c.605A>G p.Y202C Missense 5/23 -
9-111617614-G-A ACTL7B c.597C>T p.S199= Synonymous 1/1 -
9-37357033-G-A ZCCHC7 c.1400G>A p.R467H Missense 9/9 -
19-5455519-C-T ZNRF4 c.17C>T p.P6L Missense 1/1 -
18-10487720-C-T APCDD1 c.1230C>T p.C410= Synonymous 5/5 -
12-62785104-C-T USP15 c.2128C>T p.R710* Nonsense 16/22 -
22-39445435-C-T APOBEC3F c.572C>T p.P191L Missense 5/7 -
1-200822548-C-A CAMSAP2 c.3748C>A p.Q1250K Missense 13/17 -
3-52434427-C-T DNAH1 c.12763C>T p.R4255C Missense 78/78 -
17-73568084-C-T LLGL2 c.2399C>T p.S800L Missense 19/26 -
11-100999560-G-C PGR c.242C>G p.S81W Missense 1/8 -
5-112177447-GC-G APC c.6158delC p.P2053Lfs*20 Frameshift 16/16 -
17-78188873-C-T SGSH c.314G>A p.R105Q Missense 3/8 -
1-155583260-A-T MSTO1 c.1291A>T p.T431S Missense 12/14 -
1-227170628-C-T COQ8A c.973C>T p.R325W Missense 8/15 -
19-50463832-T-C SIGLEC11 c.437A>G p.N146S Missense 2/11 -
1-163307846-G-A NUF2 c.472G>A p.A158T Missense 7/14 -
3-74535738-C-T CNTN3 c.227G>A p.R76H Missense 3/22 -
6-42933787-C-T PEX6 c.2357G>A p.R786Q Missense 12/17 -
1-201178696-G-T IGFN1 c.4675G>T p.G1559W Missense 12/24 -
19-5661808-C-T SAFB c.2142C>T p.Y714= Synonymous 15/21 -
3-195507710-C-G MUC4 c.10741G>C p.D3581H Missense 2/25 -
7-129760653-C-T KLHDC10 c.540C>T p.N180= Synonymous 4/10 -
12-53708553-C-T AAAS c.527G>A p.R176H Missense 6/16 -
19-9009652-C-T MUC16 c.39074G>A p.G13025E Missense 39/84 -
X-67283812-C-T OPHN1 c.2042G>A p.G681E Missense 21/25 -
8-103287977-C-G UBR5 c.6589G>C p.G2197R Missense 46/59 -
16-5140288-C-T EEF2KMT c.539G>A p.R180H Missense 6/8 -
5-112384868-G-A MCC c.2577C>T p.S859= Synonymous 16/19 -
19-45452047-G-A APOC2 c.145G>A p.E49K Missense 3/4 -
1-152188225-C-G HRNR c.5880G>C p.Q1960H Missense 3/3 -
3-195511102-G-T MUC4 c.7349C>A p.P2450H Missense 2/25 -
19-8999478-TG-CA MUC16 c.40696_40697delinsTG p.Q13566W Missense 56/84 -
6-131944519-C-T MED23 c.368G>A p.R123Q Missense 5/29 -
5-179320308-T-G TBC1D9B c.737A>C p.N246T Missense 5/21 -
19-49611273-G-A SNRNP70 c.887G>A p.R296Q Missense 10/10 -
16-23555853-C-T EARS2 c.467G>A p.R156Q Missense 3/9 -
22-38120707-C-T TRIOBP c.2144C>T p.T715I Missense 7/24 -
10-78729731-C-T KCNMA1 c.2360+1G>A - IntronicSNV - 20/27
11-27016378-G-A FIBIN c.305G>A p.S102N Missense 1/1 -
14-31597161-G-A HECTD1 c.4811C>T p.T1604I Missense 26/43 -
19-3751438-G-A APBA3 c.1509C>T p.D503= Synonymous 9/11 -
1-209799314-C-T LAMB3 c.1655G>A p.R552H Missense 14/23 -
5-32090117-C-A PDZD2 c.6563C>A p.S2188* Nonsense 20/25 -
15-25971098-C-T ATP10A c.979G>A p.G327R Missense 5/21 -
2-185801474-C-T ZNF804A c.1351C>T p.P451S Missense 4/4 -
2-74782426-A-T DOK1 c.206A>T p.E69V Missense 2/5 -
17-76993512-C-T CANT1 c.193G>A p.A65T Missense 3/5 -
19-57088462-G-A ZNF470 c.665G>A p.R222H Missense 6/6 -
12-8374456-G-A FAM90A1 c.1357C>T p.P453S Missense 7/7 -
19-36303284-G-A PRODH2 c.577C>T p.P117S Missense 2/10 -
16-29891370-C-T SEZ6L2 c.1388G>A p.R463H Missense 9/18 -
8-61693566-C-T CHD7 c.1673C>T p.P558L Missense 3/38 -
19-10334696-G-A S1PR2 c.886C>T p.R296W Missense 2/2 -
7-32598702-A-C AVL9 c.841A>C p.M281L Missense 10/16 -
11-799873-C-T PIDD1 c.2416G>A p.V806M Missense 15/16 -
12-111855955-C-T SH2B3 c.6C>T p.N2= Synonymous 2/8 -
15-90610564-C-T ZNF710 c.195C>T p.D65= Synonymous 2/5 -
20-40714373-C-T PTPRT c.3967G>A p.A1323T Missense 28/31 -
5-5303417-G-A ADAMTS16 c.2826G>A p.T942= Synonymous 19/23 -
X-39922894-C-A BCOR c.3814G>T p.E1272* Nonsense 8/15 -
1-240370967-C-G FMN2 c.2855C>G p.A952G Missense 5/18 -
12-95603414-C-T FGD6 c.1646G>A p.R549H Missense 2/21 -
3-50329713-AC-A IFRD2 c.184delG - Frameshift 1/12 -
19-6468041-G-A DENND1C c.1880C>T p.S627L Missense 23/23 -
16-2373640-G-A ABCA3 c.497C>T p.T166I Missense 7/33 -
10-121586975-G-A INPP5F c.3082G>A p.V1028I Missense 20/20 -
8-11995369-G-C USP17L2 c.901C>G p.L301V Missense 1/1 -
19-6495596-G-A TUBB4A c.914C>T p.P305L Missense 4/4 -
19-1979024-C-T CSNK1G2 c.614C>T p.P205L Missense 6/12 -
1-152284885-C-T FLG c.2477G>A p.R826Q Missense 3/3 -
7-19184847-G-A FERD3L c.139C>T p.R47* Nonsense 1/1 -
16-24581457-G-A RBBP6 c.3446G>A p.R1149K Missense 17/18 -
X-21875706-C-CT YY2 c.1104_1105insT p.K369* Nonsense 1/1 -
19-40743884-C-T AKT2 c.823G>A p.D275N Missense 9/14 -
1-152285306-G-C FLG c.2056C>G p.Q686E Missense 3/3 -
9-95609234-AT-TC ZNF484 c.1834_1835delATinsGA p.I612D Missense 5/5 -
9-125627855-G-A RC3H2 c.1407C>T p.V469= Synonymous 10/21 -
6-43308092-T-C ZNF318 c.3644A>G p.K1215R Missense 10/10 -
21-34921885-C-A SON c.348C>A p.N116K Missense 3/12 -
1-6511939-G-A ESPN c.2108G>A p.R703Q Missense 10/13 -
12-8075518-C-T SLC2A3 c.1171G>A p.E391K Missense 9/10 -
8-145753141-C-T C8orf82 c.236G>A p.R79H Missense 3/3 -
1-29070263-G-A YTHDF2 c.1481G>A p.R494H Missense 4/5 -
X-152770773-C-T BGN c.316C>T p.R106C Missense 3/8 -
14-20482703-A-G OR4K14 c.650T>C p.I217T Missense 2/2 -
4-9784917-A-G DRD5 c.1264A>G p.N422D Missense 1/1 -
7-100683565-G-C MUC17 c.8868G>C p.R2956S Missense 3/13 -
6-37140854-C-A PIM1 c.690C>A p.I230= Synonymous 5/6 -
12-124979698-G-A NCOR2 c.100C>T p.H34Y Missense 3/49 -
3-110852834-C-A NECTIN3 c.1422C>A p.N474K Missense 6/6 -
21-45096627-C-T RRP1B c.628C>T p.Q210* Nonsense 8/16 -
6-21065449-C-T CDKAL1 c.1226C>T p.P409L Missense 12/16 -
3-48643250-TCA-T UQCRC1 c.249_250delTG p.K85Efs*2 Frameshift 3/13 -
2-39934249-G-A TMEM178A c.575G>A p.C192Y Missense 3/4 -
15-73852171-C-T REC114 c.715C>T p.R239C Missense 6/6 -
4-144620730-C-T FREM3 c.1099G>A p.D367N Missense 1/8 -
11-764816-C-T TALDO1 c.985C>T p.R329* Nonsense 8/8 -
11-1016970-C-T MUC6 c.5831G>A p.S1944N Missense 31/33 -
8-12044215-A-G FAM86B1 c.368T>C p.I123T Missense 4/7 -
12-57601886-C-T LRP1 c.11925C>T p.T3975= Synonymous 77/89 -
3-50155887-T-A RBM5 c.2446T>A p.*816Rext*27 Missense 25/25 -
8-101725362-T-C PABPC1 c.691A>G p.K231E Missense 5/15 -
5-11397183-C-T CTNND2 c.572G>A p.R191Q Missense 6/22 -
13-77581682-T-TA FBXL3 c.884_884dupT p.L295Ffs*3 Frameshift 5/5 -
3-151163820-C-T IGSF10 c.3949G>A p.A1317T Missense 6/8 -
1-149898375-G-A SF3B4 c.599C>T p.P200L Missense 3/6 -
3-137786407-C-T DZIP1L c.1968G>A p.S656= Synonymous 14/16 -
11-1263791-C-T MUC5B c.5681C>T p.T1894M Missense 31/49 -
1-9780277-G-A PIK3CD c.1447G>A p.V483M Missense 11/24 -
1-162336895-G-A NOS1AP c.1159G>A p.V387M Missense 10/10 -
6-44279946-G-A AARS2 c.298C>T p.R100* Nonsense 2/22 -
22-29876386-C-T NEFH c.135C>T p.S45= Synonymous 1/4 -
19-1854601-C-T KLF16 c.616G>A p.A206T Missense 2/2 -
1-153660685-G-A NPR1 c.2405G>A p.R802H Missense 15/22 -
3-196054303-C-A TM4SF19 c.159G>T p.R53S Missense 2/5 -
8-30657062-C-A PPP2CB c.312G>T p.K104N Missense 2/7 -
1-150529978-C-T ADAMTSL4 c.2056C>T p.R686C Missense 13/19 -
8-125498880-A-T RNF139 c.990A>T p.L330F Missense 2/2 -
12-4835773-G-A GALNT8 c.287G>A p.R96H Missense 2/11 -
15-70351139-G-A TLE3 c.781C>T p.R261W Missense 11/20 -
6-43008716-C-T CUL7 c.3743G>A p.C1248Y Missense 20/26 -
10-120801755-T-G EIF3A c.3277A>C p.M1093L Missense 19/22 -
1-205033485-C-T CNTN2 c.1276C>T p.R426C Missense 11/23 -
15-91454701-C-T MAN2A2 c.2030C>T p.S677L Missense 14/23 -
17-4858840-G-A ENO3 c.806G>A p.R269Q Missense 8/12 -
8-7190262-G-T USP17L1 c.354G>T p.Q118H Missense 1/1 -
1-228612893-C-T H3-4 c.134G>A p.G45D Missense 1/1 -
1-152084546-G-GCTC TCHH c.1146_1147insGAG p.Q382_L383insE InFrameInsertion 3/3 -
16-64984894-C-T CDH11 c.1670G>A p.R557H Missense 12/13 -
5-38523550-G-A LIFR c.532C>T p.R178C Missense 5/20 -
4-435906-T-C ZNF721 c.2350A>G p.K784E Missense 3/3 -
1-54417813-C-T LRRC42 c.141C>T p.F47= Synonymous 3/9 -
5-140026904-G-C NDUFA2 c.145C>G p.P49A Missense 2/3 -
X-39921558-C-T BCOR c.4262G>A p.R1421H Missense 10/15 -
X-154528179-G-A CLIC2 c.212C>T p.P71L Missense 3/6 -
4-13605828-C-T BOD1L1 c.2696G>A p.R899Q Missense 10/26 -
5-112896785-G-A YTHDC2 c.2225G>A p.R742Q Missense 18/30 -
10-96331171-T-A HELLS c.462T>A p.N154K Missense 7/22 -
2-101606788-C-T NPAS2 c.1898C>T p.P633L Missense 18/21 -
1-152280000-C-T FLG c.7362G>A p.T2454= Synonymous 3/3 -
19-37880707-G-A ZNF527 c.1756G>A p.E586K Missense 5/5 -
11-640051-G-A DRD4 c.802G>A p.G268S Missense 3/4 -
9-131117380-G-A SLC27A4 c.1373G>A p.R458H Missense 10/13 -
1-85547086-A-AT DNAI3 c.273_274insT p.K92* Nonsense 4/23 -
12-49165672-C-T ADCY6 c.2872G>A p.A958T Missense 19/22 -
7-36450695-C-T ANLN c.1315C>T p.R439C Missense 7/24 -
6-401481-C-T IRF4 c.803C>T p.T268M Missense 7/9 -
X-70823810-G-A GCNA c.683G>A p.S228N Missense 8/13 -
17-48696228-C-T CACNA1G c.5640C>T p.P1880= Synonymous 33/38 -
8-144992579-G-C PLEC c.11410C>G p.L3804V Missense 32/32 -
6-158327186-C-T SNX9 c.647C>T p.T216M Missense 7/18 -
X-37663264-C-T CYBB c.1032C>T p.S344= Synonymous 9/13 -
16-18903646-C-T SMG1 c.443G>A p.R148Q Missense 4/63 -
1-22161394-C-T HSPG2 c.10498G>A p.V3500M Missense 77/97 -
8-7190321-G-A USP17L1 c.413G>A p.S138N Missense 1/1 -
1-152084549-G-GCTC TCHH c.1143_1144insGAG p.Q381_Q382insE InFrameInsertion 3/3 -
5-140626647-A-G PCDHB15 c.1501A>G p.T501A Missense 1/1 -
1-115053498-AC-A TRIM33 c.199delG p.V67Wfs*112 Frameshift 1/20 -
12-13061280-ACGGTGGCCACAGCCGGGGTTGTGACCT-A GPRC5A c.106_132del27 p.T36_A44del InFrameDeletion 2/4 -
3-32031053-C-T ZNF860 c.482C>T p.S161L Missense 2/2 -
11-12902559-C-T TEAD1 c.473C>T p.P158L Missense 7/13 -
16-4491493-G-A DNAJA3 c.547G>A p.E183K Missense 4/12 -
14-70039672-C-T CCDC177 c.668G>A p.G223D Missense 2/2 -
12-56437276-C-T RPS26 c.311C>T p.A104V Missense 3/4 -
11-47754093-C-T FNBP4 c.1816G>A p.D606N Missense 11/17 -
6-33644692-G-A ITPR3 c.3430G>A p.A1144T Missense 26/58 -
19-17488022-G-T PLVAP c.76C>A p.R26S Missense 1/6 -
7-1785988-G-A ELFN1 c.1756G>A p.V586I Missense 3/3 -
19-56125431-C-T ZNF865 c.447C>T p.I149= Synonymous 2/2 -
5-156378736-T-G TIMD4 c.466A>C p.T156P Missense 3/9 -
22-50648673-C-A SELENOO c.1003C>A p.L335I Missense 4/9 -
7-130364130-T-C TSGA13 c.250A>G p.M84V Missense 5/8 -
5-140476585-GA-TC PCDHB2 c.2211_2212delinsTC p.Q737_M738delinsHL MultiAAMissense 1/1 -
14-73743938-C-T NUMB c.1304G>A p.R435H Missense 13/13 -
21-18981307-C-T BTG3 c.156G>A p.S52= Synonymous 2/5 -
10-75397636-C-T MYOZ1 c.118G>A p.V40I Missense 3/6 -
13-113202448-G-A TUBGCP3 c.1009C>T p.R337* Nonsense 9/22 -
10-96336455-C-T HELLS c.925C>T p.R309C Missense 10/22 -
7-87913527-C-T STEAP4 c.58G>A p.E20K Missense 2/5 -
2-178482604-C-T TTC30A c.826G>A p.D276N Missense 1/1 -
19-58420810-C-T ZNF417 c.836G>A p.R279Q Missense 3/3 -
11-1862294-C-T TNNI2 c.310C>T p.R104W Missense 7/8 -
19-12791137-G-A DHPS c.210C>T p.I70= Synonymous 2/9 -
19-14164556-T-C PALM3 c.1883A>G p.E643G Missense 7/7 -
4-39472861-C-T LIAS c.889C>T p.R297C Missense 9/11 -
22-36902258-C-T FOXRED2 c.212G>A p.R71H Missense 2/9 -
3-195515027-T-C MUC4 c.3424A>G p.T1142A Missense 2/25 -
19-21240552-T-A ZNF430 c.1438T>A p.S480T Missense 5/5 -
12-57432740-C-T MYO1A c.1386G>A p.V462= Synonymous 16/28 -
22-47073086-G-A GRAMD4 c.1675G>A p.E559K Missense 19/19 -
3-5248940-CT-C EDEM1 c.1325delT p.F442Sfs*7 Frameshift 7/12 -
1-152284328-T-A FLG c.3034A>T p.T1012S Missense 3/3 -
11-1619361-A-G KRTAP5-2 c.120T>C p.S40= Synonymous 1/1 -
1-152277275-G-A FLG c.10087C>T p.P3363S Missense 3/3 -
2-158115079-A-G GALNT5 c.485A>G p.Q162R Missense 1/10 -
14-78217743-C-T SNW1 c.249G>A p.S83= Synonymous 3/14 -
12-122691456-G-A B3GNT4 c.658G>A p.D220N Missense 3/3 -
5-140754383-C-T PCDHGA6 c.733C>T p.P245S Missense 1/4 -
18-7117716-G-A LAMA1 c.4C>T p.R2C Missense 1/63 -
2-43452433-G-A ZFP36L2 c.510C>T p.Y170= Synonymous 2/2 -
1-232649782-C-G SIPA1L2 c.1304G>C p.S435T Missense 3/23 -
17-42284694-G-A UBTF c.2211C>T p.D737= Synonymous 21/21 -
8-101725374-T-C PABPC1 c.679A>G p.S227G Missense 5/15 -
17-79526404-C-T NPLOC4 c.1708G>A p.G570S Missense 17/17 -
20-30388794-C-T TPX2 c.2155C>T p.R719C Missense 18/18 -
11-1017579-C-T MUC6 c.5222G>A p.S1741N Missense 31/33 -
15-86311459-C-T KLHL25 c.1583G>A p.R528H Missense 2/3 -
5-132150057-C-T SOWAHA c.744C>T p.S248= Synonymous 1/1 -
3-130128890-A-G COL6A5 c.4580A>G p.K1527R Missense 19/41 -
1-152323466-A-C FLG2 c.6796T>G p.W2266G Missense 3/3 -
12-53722288-GC-AA SP7 c.937_938delinsTT p.A313F Missense 3/3 -
4-1019088-T-A FGFRL1 c.1468T>A p.S490T Missense 7/7 -
1-89448924-T-C RBMXL1 c.586A>G p.R196G Missense 3/3 -
X-34149331-G-T FAM47A c.1065C>A p.S355= Synonymous 1/1 -
10-46967443-C-T SYT15 c.634G>A p.E212K Missense 4/8 -
22-38120897-C-CT TRIOBP c.2334_2335insT p.R779* Nonsense 7/24 -
1-12014921-G-A PLOD1 c.614G>A p.R205H Missense 6/19 -
7-2632682-C-T IQCE c.1271C>T p.A424V Missense 15/22 -
17-76198638-C-T AFMID c.213C>T p.G71= Synonymous 3/11 -
10-102249825-C-T SEC31B c.2905G>A p.D969N Missense 21/26 -
X-117527091-C-T WDR44 c.683C>T p.T228I Missense 4/20 -
13-110436583-C-T IRS2 c.1818G>A p.S606= Synonymous 1/2 -
11-121033032-G-A TECTA c.5225G>A p.R1742H Missense 16/24 -
22-19222190-A-G CLTCL1 c.1009T>C p.Y337H Missense 7/33 -
1-209974601-T-C IRF6 c.158A>G p.E53G Missense 3/9 -
1-152327269-T-C FLG2 c.2993A>G p.N998S Missense 3/3 -
9-14619050-CA-C ZDHHC21 c.711delT p.F237Lfs*50 Frameshift 10/10 -
7-47854969-G-A PKD1L1 c.7052C>T p.P2351L Missense 47/57 -
8-27823974-G-A SCARA5 c.198C>T p.Y66= Synonymous 3/9 -
12-56847452-C-T MIP c.448G>A p.D150N Missense 2/4 -
14-81609925-C-T TSHR c.1523C>T p.S508L Missense 10/10 -
1-110051333-G-A AMIGO1 c.202C>T p.L68F Missense 2/2 -
14-105418729-A-G AHNAK2 c.3059T>C p.L1020S Missense 7/7 -
18-13008607-C-T CEP192 c.443C>T p.A148V Missense 4/45 -
2-11767167-G-T GREB1 c.4386G>T p.A1462= Synonymous 25/33 -
11-32610641-C-T EIF3M c.398C>T p.S133F Missense 4/11 -
9-79326091-A-T PRUNE2 c.1099T>A p.S367T Missense 8/19 -
5-140867037-G-C PCDHGC4 c.2297G>C p.G766A Missense 1/4 -
1-152277014-A-G FLG c.10348T>C p.Y3450H Missense 3/3 -
3-9970170-C-T IL17RC c.1059C>T p.D353= Synonymous 11/19 -
1-146758174-G-A CHD1L c.2218G>A p.V740I Missense 18/23 -
17-79517608-G-A FAAP100 c.912C>T p.D304= Synonymous 3/9 -
6-52546620-C-T TMEM14A c.80C>T p.P27L Missense 3/5 -
1-152286257-T-C FLG c.1105A>G p.T369A Missense 3/3 -
6-42073632-AGTGGTGTGGCTGGCCCAAGTGTGGCCTTGG-A C6orf132 c.1988_2017del30 p.P663_P672del InFrameDeletion 4/5 -
15-90191978-G-A KIF7 c.951C>T p.N317= Synonymous 5/19 -
6-132892037-G-A TAAR6 c.577G>A p.V193I Missense 1/1 -
19-51857430-C-T ETFB c.190G>A p.V64I Missense 2/6 -
10-51751465-G-A AGAP6 c.322G>A p.E108K Missense 3/8 -
6-7606374-G-A SNRNP48 c.917G>A p.R306K Missense 8/9 -
22-38120899-G-GA TRIOBP c.2336_2337insA p.T780Dfs*6 Frameshift 7/24 -
1-186084475-A-G HMCN1 c.11490A>G p.I3830M Missense 75/107 -
2-241973259-C-T SNED1 c.609C>T p.G203= Synonymous 3/32 -
X-48767103-C-T SLC35A2 c.262G>A p.A88T Missense 2/5 -
5-72743849-CCCGCCGCCGCCCGCGCCG-C FOXD1 c.321_338del18 p.G108_G113del InFrameDeletion 1/2 -
19-39330801-C-G HNRNPL c.1168G>C p.D390H Missense 8/13 -
13-79177428-C-A POU4F1 c.34G>T p.A12S Missense 1/2 -
10-88260203-T-C WAPL c.797A>G p.D266G Missense 3/19 -
5-140768950-C-T PCDHGB4 c.1499C>T p.S500L Missense 1/4 -
11-47663963-G-A MTCH2 c.55C>T p.Q19* Nonsense 1/13 -
7-149152522-T-A ZNF777 c.592A>T p.K198* Nonsense 2/6 -
10-129902712-A-G MKI67 c.7392T>C p.C2464= Synonymous 13/15 -
12-419049-C-T KDM5A c.3298G>A p.E1100K Missense 22/28 -
9-21974767-CGCGGCCGTGGCCA-C CDKN2A c.47_59del13 p.L16Rfs*6 Frameshift 1/3 -
16-87902663-C-G SLC7A5 c.366G>C p.E122D Missense 1/10 -
1-145608644-A-G POLR3C c.163T>C p.C55R Missense 3/16 -
18-19995998-G-C CTAGE1 c.1777C>G p.Q593E Missense 1/1 -
12-48381483-C-T COL2A1 c.1132G>A p.G378S Missense 19/54 -
1-152284339-G-C FLG c.3023C>G p.P1008R Missense 3/3 -
13-46358075-C-T SIAH3 c.253G>A p.A85T Missense 2/2 -
7-100679103-A-G MUC17 c.4406A>G p.N1469S Missense 3/13 -
7-74193734-C-T NCF1 c.361C>T p.R121C Missense 4/11 -
3-195508478-G-C MUC4 c.9973C>G p.H3325D Missense 2/25 -
17-44952521-C-T WNT9B c.389C>T p.T130I Missense 3/4 -
20-2384465-G-A TGM6 c.1332G>A p.P444= Synonymous 9/13 -
2-75105831-C-T HK2 c.1048C>T p.R350W Missense 9/18 -
1-22175468-G-A HSPG2 c.7503C>T p.Y2501= Synonymous 58/97 -
5-7773179-C-T ADCY2 c.2349C>T p.H783= Synonymous 18/25 -
16-784850-G-A CIAO3 c.461C>T p.T154I Missense 5/11 -
16-960936-C-T LMF1 c.658G>A p.G220R Missense 4/11 -
19-33502679-C-T RHPN2 c.499G>A p.G167R Missense 6/15 -
14-75514337-A-AT MLH3 c.2021_2021dupA p.N674Kfs*13 Frameshift 2/13 -
8-41584768-T-G ANK1 c.426A>C p.E142D Missense 5/43 -
10-97096997-G-A SORBS1 c.2920C>T p.R974C Missense 30/33 -
1-23208924-C-T EPHB2 c.1376C>T p.P459L Missense 6/16 -
2-171248118-A-G MYO3B c.1666A>G p.K556E Missense 15/35 -
15-25971182-G-A ATP10A c.895C>T p.R299C Missense 5/21 -
15-93545443-C-A CHD2 c.4174C>A p.Q1392K Missense 33/39 -
10-129904928-A-T MKI67 c.5176T>A p.S1726T Missense 13/15 -
9-26892577-G-A CAAP1 c.137C>T p.A46V Missense 1/6 -
10-134218337-C-T PWWP2B c.333C>T p.A111= Synonymous 2/3 -
19-1828329-G-A REXO1 c.459C>T p.P153= Synonymous 2/16 -
2-202245429-G-T TRAK2 c.2582C>A p.A861E Missense 16/16 -
8-7190267-C-A USP17L1 c.359C>A p.P120H Missense 1/1 -
5-145531424-C-T LARS1 c.1425+1G>A - IntronicSNV - 14/31
4-74005724-T-C ANKRD17 c.2609A>G p.Q870R Missense 15/34 -
11-3707238-C-G NUP98 c.4641G>C p.W1547C Missense 29/33 -
1-12837548-G-A PRAMEF12 c.1258G>A p.A420T Missense 3/3 -
7-100491446-G-A ACHE c.408C>T p.Y136= Synonymous 2/5 -
19-9012826-T-C MUC16 c.38618A>G p.H12873R Missense 34/84 -
8-145533491-C-T HSF1 c.397C>T p.R133C Missense 4/13 -
2-132021721-A-G POTEE c.2693A>G p.Y898C Missense 18/18 -
1-201180577-G-A IGFN1 c.6556G>A p.E2186K Missense 12/24 -
1-51001044-G-A FAF1 c.1491C>T p.D497= Synonymous 15/19 -
10-134942522-C-T ADGRA1 c.1190C>T p.A397V Missense 7/7 -
13-20220976-G-A MPHOSPH8 c.763G>A p.E255K Missense 3/14 -
9-134073090-C-T NUP214 c.4209C>T p.T1403= Synonymous 29/36 -
19-6426476-G-A SLC25A41 c.1037C>T p.T346M Missense 7/7 -
19-4816574-G-A TICAM1 c.1816C>T p.R606* Nonsense 2/2 -
19-50881013-G-A NR1H2 c.67G>A p.A23T Missense 4/10 -
5-140580869-A-G PCDHB11 c.1522A>G p.T508A Missense 1/1 -
2-74742926-G-A TLX2 c.567G>A p.A189= Synonymous 2/3 -
19-36223997-C-T KMT2B c.6547C>T p.P2183S Missense 28/37 -
14-70040173-ACTTCTG-A CCDC177 c.161_166delCAGAAG p.A54_E55del InFrameDeletion 2/2 -
19-3381753-G-A NFIC c.74G>A p.R25H Missense 2/11 -
19-18313429-C-T RAB3A c.122G>A p.R41H Missense 2/5 -
15-75977114-T-C CSPG4 c.4412A>G p.D1471G Missense 5/10 -
11-49076860-G-A TRIM64C c.859+2C>T - IntronicSNV - 5/5
2-162275500-T-G TBR1 c.1067T>G p.V356G Missense 4/6 -
13-77589682-C-T FBXL3 c.505G>A p.V169I Missense 4/5 -
14-105517793-C-T GPR132 c.681G>A p.K227= Synonymous 4/4 -
17-41594645-G-A DHX8 c.2754G>A p.P918= Synonymous 18/23 -
4-83748562-A-G SEC31A c.3251T>C p.I1084T Missense 24/27 -
1-152285875-T-C FLG c.1487A>G p.H496R Missense 3/3 -
X-77392472-T-A TAF9B c.421A>T p.R141* Nonsense 5/7 -
2-3392080-C-T TRAPPC12 c.686C>T p.T229I Missense 2/12 -
12-6838486-A-C COPS7A c.401A>C p.E134A Missense 5/8 -
1-152281813-T-C FLG c.5549A>G p.E1850G Missense 3/3 -
7-102963180-C-T DNAJC2 c.781G>A p.E261K Missense 8/17 -
16-771868-C-T ANTKMT c.335C>T p.A112V Missense 3/5 -
7-107341561-A-G SLC26A4 c.1723A>G p.I575V Missense 16/21 -
4-6599958-TC-AT MAN2B2 c.1282_1283delinsAT p.S428I Missense 9/19 -
5-33527351-GA-G ADAMTS12 c.4727delT p.I1576Tfs*40 Frameshift 24/24 -
4-157732093-C-T PDGFC c.391G>A p.G131R Missense 3/6 -
10-5693283-G-A ASB13 c.275C>T p.A92V Missense 3/6 -
3-37514928-C-T ITGA9 c.397C>T p.P133S Missense 3/28 -
16-2239276-G-A CASKIN1 c.449C>T p.T150M Missense 5/20 -
1-201180797-A-G IGFN1 c.6776A>G p.E2259G Missense 12/24 -
11-1017021-T-A MUC6 c.5780A>T p.H1927L Missense 31/33 -
3-14197875-C-T XPC c.1993G>A p.A665T Missense 10/16 -
19-1008150-G-A GRIN3B c.2326G>A p.G776R Missense 6/9 -
10-75457492-A-G AGAP5 c.22T>C p.C8R Missense 1/8 -
5-36985705-G-A NIPBL c.2423G>A p.R808Q Missense 10/47 -
3-128984575-T-A COPG1 c.1408T>A p.S470T Missense 14/24 -
15-89876592-C-T POLG c.394G>A p.G132R Missense 2/23 -
12-109835558-C-T MYO1H c.463C>T p.L155F Missense 4/31 -
19-2291060-G-A LINGO3 c.716C>T p.A239V Missense 2/2 -
14-75276278-C-T YLPM1 c.4717C>T p.R1573* Nonsense 7/21 -
20-16717984-G-A SNRPB2 c.316G>A p.E106K Missense 4/7 -
2-131976384-G-C POTEE c.409G>C p.G137R Missense 4/18 -
3-184911089-G-A EHHADH c.1097C>T p.T366I Missense 7/7 -
3-195507241-G-A MUC4 c.11210C>T p.A3737V Missense 2/25 -
16-89350733-C-T ANKRD11 c.2217G>A p.S739= Synonymous 9/13 -
13-32918790-G-A BRCA2 c.6937G>A p.G2313S Missense 12/27 -
17-80285083-C-T SECTM1 c.34G>A p.V12I Missense 2/5 -
2-107041368-C-T RGPD3 c.3055G>A p.G1019S Missense 20/23 -
11-1016957-T-G MUC6 c.5844A>C p.R1948S Missense 31/33 -
11-65315427-C-T LTBP3 c.1810G>A p.G604S Missense 12/28 -
12-76786495-T-A OSBPL8 c.795A>T p.K265N Missense 10/24 -
6-138539364-C-T PBOV1 c.169G>A p.E57K Missense 1/1 -
19-53454475-C-T ZNF816 c.553G>A p.G185S Missense 4/4 -
12-57538777-C-T LRP1 c.471C>T p.Y157= Synonymous 5/89 -
16-84229938-C-T ADAD2 c.1488C>T p.I496= Synonymous 8/10 -
14-55902592-A-C TBPL2 c.669T>G p.H223Q Missense 3/7 -
12-16055853-G-A STRAP c.994G>A p.E332K Missense 10/10 -
X-48403294-C-T TBC1D25 c.271C>T p.R91W Missense 3/6 -
1-220445670-A-G RAB3GAP2 c.10T>C p.S4P Missense 1/35 -
1-156038188-G-A RAB25 c.367G>A p.V123M Missense 3/5 -
1-236399611-A-G ERO1B c.593T>C p.V198A Missense 7/16 -
15-75498685-AAGGCCCTG-A C15orf39 c.299_306delGCCCTGAG p.G100Efs*9 Frameshift 2/3 -
3-55504435-C-A WNT5A c.828G>T p.M276I Missense 5/5 -
1-152283530-T-C FLG c.3832A>G p.R1278G Missense 3/3 -
22-28195320-G-T MN1 c.1212C>A p.H404Q Missense 1/2 -
3-195511348-G-C MUC4 c.7103C>G p.P2368R Missense 2/25 -
16-722003-G-A RHOT2 c.1097+1G>A - IntronicSNV - 13/18
16-89916766-G-A SPIRE2 c.343G>A p.E115K Missense 3/15 -
22-50659342-G-A TUBGCP6 c.3446C>T p.S1149L Missense 16/25 -
18-59483338-C-T RNF152 c.359G>A p.R120H Missense 2/2 -
16-15045638-T-A NPIPA1 c.809T>A p.L270Q Missense 8/8 -
6-70944280-T-A COL9A1 c.2276A>T p.D759V Missense 35/38 -
15-41680677-C-T NDUFAF1 c.803G>A p.R268Q Missense 4/5 -
1-12023613-C-T PLOD1 c.1122C>T p.S374= Synonymous 11/19 -
X-152159601-CT-C PNMA5 c.542delA p.Q181Rfs*5 Frameshift 4/4 -
14-77948948-G-A ISM2 c.690C>T p.P230= Synonymous 4/7 -
14-35074841-G-A SNX6 c.389C>T p.T118M Missense 5/14 -
6-64431666-T-A EYS c.8261A>T p.N2754I Missense 43/43 -
14-104212794-C-T PPP1R13B c.1066G>A p.G356R Missense 9/17 -
13-101184591-C-T GGACT c.255G>A p.P85= Synonymous 3/3 -
8-17722145-C-G FGL1 c.895G>C p.V299L Missense 8/8 -
8-17157456-C-T MTMR7 c.1898G>A p.R633Q Missense 14/14 -
19-53912106-G-C ZNF765 c.1298G>C p.S433T Missense 4/4 -
13-26125489-C-T ATP8A2 c.905C>T p.A302V Missense 11/37 -
8-11994886-T-C USP17L2 c.1384A>G p.N462D Missense 1/1 -
20-47838011-G-A DDX27 c.209G>A p.R39Q Missense 2/21 -
4-2831753-C-T SH3BP2 c.1120C>T p.P374S Missense 8/13 -
22-28395130-G-A TTC28 c.4517C>T p.S1506L Missense 16/23 -
14-102476276-G-A DYNC1H1 c.6074G>A p.R2025Q Missense 30/78 -
4-1017706-C-T FGFRL1 c.535C>T p.R179W Missense 5/7 -
8-100866373-C-T VPS13B c.10756C>T p.H3586Y Missense 56/62 -
4-71347345-C-T MUC7 c.884C>T p.P295L Missense 3/3 -
3-37559076-G-A ITGA9 c.1117G>A p.D373N Missense 10/28 -
9-33385762-C-T AQP7 c.628G>A p.V210M Missense 7/8 -
1-145273301-G-A NOTCH2NLA c.155G>A p.R52Q Missense 3/5 -
X-53263488-C-T IQSEC2 c.4380G>A p.P1460= Synonymous 15/15 -
8-38066606-C-T BAG4 c.709C>T p.R237* Nonsense 4/5 -
6-151130360-C-T PLEKHG1 c.1032C>T p.F344= Synonymous 9/17 -
4-4199440-A-G OTOP1 c.1121T>C p.I374T Missense 5/6 -
16-68379668-G-A PRMT7 c.1018G>A p.D340N Missense 10/19 -
1-172628494-G-A FASLG c.153G>A p.P51= Synonymous 1/4 -
17-58372107-C-A USP32 c.348G>T p.M116I Missense 4/34 -
6-147581791-T-C STXBP5 c.472T>C p.Y158H Missense 5/28 -
17-66041975-C-A KPNA2 c.1435C>A p.H479N Missense 10/11 -
20-126259-G-A DEFB126 c.262G>A p.A88T Missense 2/2 -
16-71318787-A-G CMTR2 c.1037T>C p.L346P Missense 3/3 -
5-173416365-C-T C5orf47 c.99C>T p.G33= Synonymous 1/5 -
1-203150351-C-T CHI3L1 c.650G>A p.G217D Missense 7/10 -
4-4285447-G-A LYAR c.23C>T p.A8V Missense 3/10 -
8-69050713-T-C PREX2 c.4048T>C p.F1350L Missense 33/40 -
14-74756192-C-T ABCD4 c.1450G>A p.D484N Missense 14/19 -
20-58452528-G-T SYCP2 c.3062C>A p.T1021K Missense 33/45 -
5-71615997-G-C MRPS27 c.52C>G p.L18V Missense 1/11 -
1-22214527-C-T HSPG2 c.607G>A p.E203K Missense 7/97 -
15-22933578-G-A CYFIP1 c.587G>A p.R196H Missense 7/31 -
7-65554665-G-A ASL c.1045G>A p.V349I Missense 14/17 -
19-5931445-G-A RANBP3 c.663C>T p.S221= Synonymous 8/17 -
5-136963989-C-T KLHL3 c.1588G>A p.A530T Missense 13/15 -
3-195515006-G-C MUC4 c.3445C>G p.H1149D Missense 2/25 -
12-14659937-GGCTC-G PLBD1 c.1298_1301delGAGC p.R433Pfs*11 Frameshift 9/11 -
19-15839023-C-T OR10H2 c.170C>T p.T57M Missense 1/1 -
9-88938305-A-G TUT7 c.2360T>C p.L787S Missense 13/27 -
22-38120930-C-T TRIOBP c.2367C>T p.D789= Synonymous 7/24 -
X-10166061-G-A CLCN4 c.515G>A p.R172H Missense 6/13 -
10-44139947-G-A ZNF32 c.373C>T p.R125W Missense 3/3 -
19-10273413-C-T DNMT1 c.938G>A p.R313Q Missense 13/41 -
3-48604606-G-A COL7A1 c.8064C>T p.D2688= Synonymous 110/119 -
7-129350272-G-A NRF1 c.824G>A p.R275Q Missense 7/11 -
19-3574460-G-A HMG20B c.227G>A p.G76D Missense 4/10 -
7-44184830-C-T GCK c.1303G>A p.E435K Missense 10/10 -
16-2012895-C-T RPS2 c.391G>A p.G131R Missense 5/7 -
19-1854672-G-A KLF16 c.545C>T p.T182M Missense 2/2 -
16-23546254-C-T EARS2 c.913G>A p.D305N Missense 4/9 -
7-100225729-C-T TFR2 c.1504G>A p.V502I Missense 12/18 -
2-234669555-C-T UGT1A1 c.622C>T p.Q208* Nonsense 1/5 -
7-90014278-C-T GTPBP10 c.974C>T p.S325F Missense 10/10 -
18-43437926-C-T EPG5 c.7334G>A p.R2445Q Missense 42/44 -
3-157921031-G-A RSRC1 c.491G>A p.R164H Missense 4/10 -
6-3298361-T-A SLC22A23 c.1174A>T p.M392L Missense 5/10 -
6-26225540-G-A H3C6 c.158G>A p.R53H Missense 1/1 -
9-140772483-G-A CACNA1B c.98G>A p.G33D Missense 1/47 -
2-95943682-C-T PROM2 c.980C>T p.P327L Missense 8/24 -
22-24829404-C-T ADORA2A c.32C>T p.T11M Missense 2/3 -
11-1017441-G-A MUC6 c.5360C>T p.S1787L Missense 31/33 -
19-44891089-A-T ZNF285 c.1318T>A p.C440S Missense 4/4 -
11-62189879-T-C SCGB1A1 c.242T>C p.M81T Missense 2/3 -
12-124497020-C-T ZNF664 c.329C>T p.T110I Missense 5/5 -
19-58216263-G-A ZNF154 c.118C>T p.R40C Missense 2/3 -
19-22155518-A-C ZNF208 c.2318T>G p.V773G Missense 4/4 -
17-2203768-G-A SMG6 c.279C>T p.P93= Synonymous 2/19 -
7-100641802-G-A MUC12 c.7958G>A p.G2653D Missense 2/12 -
19-22272175-C-A ZNF257 c.1623C>A p.N541K Missense 4/4 -
19-59059485-C-T TRIM28 c.1039C>T p.R347C Missense 7/17 -
6-90368050-C-T MDN1 c.15061G>A p.V5021M Missense 90/102 -
22-50615737-C-T PANX2 c.596C>T p.A199V Missense 2/3 -
7-73477518-G-A ELN c.1822G>A p.A608T Missense 27/33 -
8-95683790-G-A ESRP1 c.1343G>A p.R448H Missense 11/16 -
19-20229146-T-A ZNF90 c.783T>A p.D261E Missense 4/4 -
15-74238812-C-T LOXL1 c.1266C>T p.F422= Synonymous 3/7 -
10-93083-C-T TUBB8 c.1249G>A p.D417N Missense 4/4 -
4-71693639-C-A GRSF1 c.1065G>T p.M355I Missense 6/10 -
16-24583212-CAA-C RBBP6 c.4825_4826delAA p.K1609Efs*6 Frameshift 18/18 -
12-52962038-C-T KRT74 c.1270G>A p.E424K Missense 7/9 -
14-94935625-C-T SERPINA9 c.607G>A p.G185R Missense 2/5 -
1-152277035-T-C FLG c.10327A>G p.R3443G Missense 3/3 -
16-67701876-A-G C16orf86 c.428A>G p.Q143R Missense 3/4 -
6-147022179-G-A ADGB c.1680G>A p.L560= Synonymous 13/36 -
12-176563-CCTCCGCCCTCGG-C IQSEC3 c.517_528del12 p.S173_G176del InFrameDeletion 1/14 -
12-8375183-G-C FAM90A1 c.630C>G p.I210M Missense 7/7 -
3-16419470-C-T RFTN1 c.581G>A p.R194H Missense 5/10 -
17-12666860-G-T MYOCD c.2860G>T p.A954S Missense 14/14 -
1-182555316-G-A RNASEL c.626C>T p.A209V Missense 2/7 -
16-1825329-G-A EME2 c.583G>A p.V195I Missense 5/8 -
20-44685855-G-A SLC12A5 c.3172G>A p.E1058K Missense 25/26 -
11-130785480-G-A SNX19 c.355C>T p.R119C Missense 1/11 -
7-92734256-A-T SAMD9 c.1155T>A p.N385K Missense 3/3 -
17-909330-G-A ABR c.2570C>T p.T857I Missense 23/23 -
17-17699434-C-T RAI1 c.3172C>T p.R1058C Missense 3/6 -
2-25141450-C-T ADCY3 c.407G>A p.R136H Missense 2/22 -
14-21561079-C-T ZNF219 c.377G>A p.R126H Missense 3/5 -
19-6833210-G-A VAV1 c.1524G>A p.P508= Synonymous 16/27 -
19-17008734-C-T CPAMD8 c.5061G>A p.A1640= Synonymous 38/42 -
2-242189300-C-T HDLBP c.1468G>A p.V490M Missense 12/28 -
8-11991486-G-C USP17L7 c.33C>G p.D11E Missense 1/1 -
19-1044612-C-T ABCA7 c.1084C>T p.P362S Missense 11/47 -
15-101555564-CT-C LRRK1 c.1571delT p.F524Sfs*23 Frameshift 12/34 -
11-95825867-C-T MAML2 c.1328G>A p.R443H Missense 2/5 -
7-100678635-A-C MUC17 c.3938A>C p.N1313T Missense 3/13 -
7-82997122-G-A SEMA3E c.2108C>T p.S703L Missense 17/17 -
X-45013360-C-T DIPK2B c.756G>A p.P252= Synonymous 4/5 -
11-89531612-C-T TRIM49 c.1045G>A p.D349N Missense 8/8 -
3-196387091-A-G NRROS c.577A>G p.I193V Missense 3/3 -
8-43052118-G-C HGSNAT c.1492G>C p.A498P Missense 15/18 -
6-132695829-T-A MOXD1 c.352A>T p.T118S Missense 2/12 -
19-9048431-A-G MUC16 c.33200T>C p.L11067P Missense 5/84 -
10-127459042-A-G MMP21 c.1098T>C p.L366= Synonymous 5/7 -
7-100677275-TA-CC MUC17 c.2578_2579delinsCC p.Y860P Missense 3/13 -
12-54577511-A-G SMUG1 c.214T>C p.Y72H Missense 3/4 -
20-47261019-G-A PREX1 c.3529C>T p.R1177* Nonsense 27/40 -
10-103530295-C-T FGF8 c.526G>A p.E176K Missense 6/6 -
1-152324164-T-G FLG2 c.6098A>C p.Y2033S Missense 3/3 -
9-117736-G-T FOXD4 c.384C>A p.S128R Missense 1/1 -
20-43940488-C-T RBPJL c.338C>T p.A113V Missense 5/12 -
19-48908216-G-A GRIN2D c.691G>A p.V231M Missense 4/14 -
19-9002587-CG-TT MUC16 c.40228_40229delinsAA p.R13410K Missense 51/84 -
10-61834370-G-A ANK3 c.6269C>T p.T2090I Missense 37/44 -
15-50888542-C-T TRPM7 c.3200G>A p.G1067D Missense 23/39 -
1-248458861-G-A OR2T12 c.20C>T p.T7I Missense 3/3 -