PMID: 30380422

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell reports
H Cheng, X Yang, H Si, AD Saleh, W Xiao, J Coupar, SM Gollin, RL Ferris, N Issaeva, WG Yarbrough, ME Prince, TE Carey, C Van Waes, Z Chen
2018-10-30

2575 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-145151563-G-A CYC1 c.688G>A p.Gly230Ser Missense 5/7 -
11-17417399-C-A ABCC8 c.4198G>T p.Gly1400Trp Missense 34/39 -
11-17417399-C-T ABCC8 c.4198G>A p.Gly1400Arg Missense 34/39 -
11-1268294-C-A MUC5B c.10184C>A p.Thr3395Asn Missense 31/49 -
11-1267250-C-T MUC5B c.9140C>T p.Thr3047Ile Missense 31/49 -
11-1267250-C-A MUC5B c.9140C>A p.Thr3047Asn Missense 31/49 -
7-42007446-C-T GLI3 c.2179G>A p.Gly727Arg Missense 14/15 -
7-143771429-G-T OR2A25 c.117G>T p.Leu39Phe Missense 1/1 -
3-195515026-G-A MUC4 c.3425C>T p.Thr1142Ile Missense 2/25 -
12-52793896-G-A KRT82 c.815C>T p.Ser272Leu Missense 5/9 -
17-65052209-G-A CACNG1 c.491G>A p.Arg164His Missense 4/4 -
1-152283922-T-C FLG c.3440A>G p.Glu1147Gly Missense 3/3 -
5-180338468-C-T BTNL8 c.527C>T p.Ser176Phe Missense 3/8 -
4-77476772-G-C SHROOM3 c.179G>C p.Gly60Ala Missense 2/11 -
19-40376946-G-A FCGBP c.11476C>T p.Pro3826Ser Missense 24/36 -
17-45214698-C-G CDC27 c.1751G>C p.Ser584Thr Missense 14/19 -
5-32090378-A-G PDZD2 c.6824A>G p.Gln2275Arg Missense 20/25 -
15-42133718-C-T PLA2G4B c.439C>T p.Arg147Trp Missense 7/20 -
18-5419723-C-A EPB41L3 c.1493G>T p.Arg498Leu Missense 12/23 -
18-5419723-C-T EPB41L3 c.1493G>A p.Arg498Gln Missense 12/23 -
2-207027600-A-G EEF1B2 c.671A>G p.Lys224Arg Missense 7/7 -
11-1629221-T-C KRTAP5-3 c.395A>G p.Tyr132Cys Missense 1/1 -
11-1629221-T-G KRTAP5-3 c.395A>C p.Tyr132Ser Missense 1/1 -
5-176759170-C-T LMAN2 c.988G>A p.Ala330Thr Missense 8/8 -
15-75982619-C-T CSPG4 c.787G>A p.Val263Met Missense 3/10 -
15-75982619-C-A CSPG4 c.787G>T p.Val263Leu Missense 3/10 -
22-36684816-C-T MYH9 c.4727G>A p.Arg1576Gln Missense 33/41 -
5-57755583-C-A PLK2 c.204G>T p.Glu68Asp Missense 1/14 -
11-63176187-A-G SLC22A9 c.1437A>G p.Ile479Met Missense 9/10 -
13-78165565-A-G SCEL c.662A>G p.Glu221Gly Missense 11/33 -
16-347957-C-T AXIN1 c.1549G>A p.Val517Ile Missense 6/11 -
5-140745356-G-T PCDHGA1 c.2421+32684G>T - IntronicSNV - 1/3
21-45708249-C-G AIRE c.560C>G p.Ser187* Nonsense 5/14 -
19-41707230-C-T CYP2S1 c.929C>T p.Thr310Met Missense 6/9 -
4-90872862-C-A MMRN1 c.3225C>A p.Asn1075Lys Missense 7/8 -
14-74970041-A-G LTBP2 c.4769T>C p.Val1590Ala Missense 33/36 -
11-48347082-A-G OR4C3 c.509A>G - missense_variant 1/1 -
1-28920430-T-C RAB42 c.119T>C p.Met40Thr Missense 2/2 -
11-108380281-T-C EXPH5 c.5953A>G p.Lys1985Glu Missense 6/6 -
3-129196984-C-T IFT122 c.1096C>T p.Arg366Trp Missense 11/29 -
7-96810340-T-C SDHAF3 c.191T>C p.Leu64Ser Missense 2/2 -
18-7016490-G-A LAMA1 c.2989C>T p.Pro997Ser Missense 21/63 -
5-101593699-T-A SLCO4C1 c.1221A>T p.Lys407Asn Missense 7/13 -
12-58200181-G-C AVIL c.1633C>G p.Leu545Val Missense 13/19 -
2-63101587-C-T EHBP1 c.1210C>T p.Pro404Ser Missense 11/25 -
19-55147971-G-C LILRB1 c.1680G>C p.Gln560His Missense 14/15 -
17-72351378-G-A KIF19 c.2924G>A p.Arg975Gln Missense 20/20 -
12-2058493-G-A DCP1B c.1532C>T p.Ser511Leu Missense 8/9 -
14-93396098-G-A CHGA c.293G>A p.Ser98Asn Missense 5/8 -
3-172165557-A-G GHSR c.647T>C p.Val216Ala Missense 1/1 -
16-55899972-A-T CES5A c.608T>A p.Leu203Gln Missense 5/12 -
2-84886244-C-A DNAH6 c.6035C>A p.Ser2012Tyr Missense 37/77 -
5-180338426-G-A BTNL8 c.485G>A p.Arg162Gln Missense 3/8 -
5-180338426-G-C BTNL8 c.485G>C p.Arg162Pro Missense 3/8 -
16-21042438-T-A DNAH3 c.5368A>T p.Ile1790Phe Missense 37/62 -
2-234638269-C-T UGT1A4 c.867+9936C>T - IntronicSNV - 1/4
6-32632706-G-T HLA-DQB1 c.248C>A p.Thr83Lys Missense 2/5 -
6-32632706-G-C HLA-DQB1 c.248C>G p.Thr83Arg Missense 2/5 -
6-32632706-G-A HLA-DQB1 c.248C>T p.Thr83Met Missense 2/5 -
16-8620007-G-A TMEM114 c.441C>T - splice_region_variant,synonymous_variant 2/2 -
16-8620007-G-T TMEM114 c.441C>A - missense_variant,splice_region_variant 2/2 -
2-234581361-T-C UGT1A10 c.855+35338T>C - IntronicSNV - 1/4
6-153043306-C-G MYCT1 c.626C>G p.Ser209Cys Missense 2/2 -
1-145761322-T-C PDZK1 c.1135T>C p.Cys379Arg Missense 8/10 -
12-53701857-G-C AAAS c.1211C>G p.Pro404Arg Missense 13/15 -
17-8007453-C-T ALOXE3 c.2161G>A p.Ala721Thr Missense 14/16 -
1-20073700-T-C TMCO4 c.569A>G p.Tyr190Cys Missense 8/16 -
20-2797635-C-A TMEM239 c.435C>A p.Gly145Gly Synonymous 2/2 -
3-126214913-G-T UROC1 c.1477C>A p.Arg493Ser Missense 15/20 -
3-126214913-G-A UROC1 c.1477C>T p.Arg493Cys Missense 15/20 -
2-114493367-T-C SLC35F5 c.819A>G p.Leu273Leu Synonymous 8/16 -
2-114493367-T-A SLC35F5 c.819A>T p.Leu273Phe Missense 8/16 -
2-114493367-T-G SLC35F5 c.819A>C p.Leu273Phe Missense 8/16 -
17-7577022-G-T TP53 c.916C>A p.Arg306Arg Synonymous 8/11 -
14-44975349-G-A FSCB c.842C>T p.Ala281Val Missense 1/1 -
2-160832738-T-C PLA2R1 c.2438-2A>G - IntronicSNV - 16/26
11-68821507-C-T TPCN2 c.116C>T p.Ala39Val Missense 2/25 -
13-37678704-T-A CSNK1A1L c.690A>T p.Lys230Asn Missense 1/1 -
3-195506704-T-C MUC4 c.11747A>G p.Asp3916Gly Missense 2/25 -
3-195506579-T-G MUC4 c.11872A>C p.Thr3958Pro Missense 2/25 -
6-108067907-C-T SCML4 c.473G>A p.Gly158Asp Missense 4/8 -
19-9082339-C-T MUC16 c.9475+1G>A - IntronicSNV - 1/83
16-87885387-C-T SLC7A5 c.607G>A p.Ala203Thr Missense 2/10 -
10-93489-G-C TUBB8 c.843C>G p.Tyr281* Nonsense 4/4 -
10-93489-G-A TUBB8 c.843C>T p.Tyr281Tyr Synonymous 4/4 -
18-32844197-G-T ZSCAN30 c.120C>A p.Asn40Lys Missense 2/4 -
3-171431771-C-T PLD1 c.823G>A p.Val275Ile Missense 9/27 -
5-43039618-G-C ANXA2R c.531C>G p.Phe177Leu Missense 1/1 -
12-119968809-G-A CCDC60 c.1492G>A p.Val498Met Missense 13/14 -
8-7679549-C-T DEFB105A c.218G>A p.Cys73Tyr Missense 3/3 -
8-7679549-C-A DEFB105A c.218G>T p.Cys73Phe Missense 3/3 -
1-114454061-C-G DCLRE1B c.847C>G p.Arg283Gly Missense 4/4 -
16-82131688-G-T HSD17B2 c.811G>T p.Gly271Cys Missense 5/5 -
8-56705280-A-C TGS1 c.1304A>C p.Asn435Thr Missense 6/13 -
17-56274589-G-A EPX c.1091G>A p.Arg364His Missense 7/13 -
17-39296412-T-A KRTAP4-6 c.328A>T p.Ser110Cys Missense 1/1 -
17-45367092-A-G ITGB3 c.985A>G p.Asn329Asp Missense 7/15 -
7-23821123-A-G STK31 c.2051A>G p.His684Arg Missense 16/24 -
3-9413122-A-G THUMPD3 c.709A>G p.Lys237Glu Missense 4/10 -
15-50366373-C-G ATP8B4 c.38G>C p.Arg13Pro Missense 3/28 -
9-131094453-G-A COQ4 c.424G>A p.Ala142Thr Missense 5/7 -
17-44067341-C-T MAPT c.1280C>T p.Ser427Phe Missense 8/14 -
6-142724940-G-A ADGRG6 c.1873G>A p.Ala625Thr Missense 13/25 -
20-61957026-C-G COL20A1 c.3355C>G p.Pro1119Ala Missense 29/36 -
19-23937693-A-G ZNF681 c.158T>C p.Ile53Thr Missense 3/4 -
1-247769573-A-T OR2G3 c.686A>T p.Lys229Ile Missense 1/1 -
17-56386607-G-A TSPOAP1 c.4026C>T p.Asp1342Asp Synonymous 22/32 -
15-31197597-C-T FAN1 c.731C>T p.Ala244Val Missense 2/15 -
22-26348304-G-A MYO18B c.5885G>A p.Arg1962Gln Missense 38/44 -
19-46332369-C-T SYMPK c.1844G>A p.Arg615His Missense 14/27 -
19-46332369-C-A SYMPK c.1844G>T p.Arg615Leu Missense 14/27 -
2-135891531-G-A RAB3GAP1 c.1427G>A p.Gly476Glu Missense 15/24 -
3-108072387-G-A HHLA2 c.178G>A p.Val60Ile Missense 4/10 -
1-222837470-G-C MIA3 c.5393G>C p.Arg1798Pro Missense 27/28 -
1-222837470-G-A MIA3 c.5393G>A p.Arg1798Gln Missense 27/28 -
6-110778060-C-G SLC22A16 c.214G>C p.Glu72Gln Missense 2/8 -
10-124380836-C-A DMBT1 c.3277C>A p.His1093Asn Missense 28/40 -
10-124380836-C-T DMBT1 c.3277C>T p.His1093Tyr Missense 28/40 -
10-18931433-C-T NSUN6 c.283G>A p.Val95Met Missense 3/11 -
7-6803602-C-T RSPH10B2 c.443C>T p.Thr148Met Missense 6/21 -
X-49454026-T-C PAGE1 c.413A>G p.Glu138Gly Missense 5/6 -
2-70045787-G-C ANXA4 c.685G>C p.Glu229Gln Missense 10/13 -
2-179482075-G-A TTN c.40033C>T p.Leu13345Phe Missense 203/312 -
14-91739873-A-G CCDC88C c.5183T>C p.Phe1728Ser Missense 30/30 -
12-54422504-C-T HOXC6 c.199C>T p.Arg67Trp Missense 1/2 -
12-54422504-C-A HOXC6 c.199C>A p.Arg67Arg Synonymous 1/2 -
12-54422504-C-G HOXC6 c.199C>G p.Arg67Gly Missense 1/2 -
9-34729338-C-A FAM205A c.87G>T p.Trp29Cys Missense 1/4 -
11-1093324-G-A MUC2 c.12559G>A - missense_variant 32/51 -
11-1093324-G-T MUC2 c.12559G>T - missense_variant 32/51 -
19-43420408-G-A PSG6 c.296C>T p.Thr99Ile Missense 2/6 -
17-28407223-T-C EFCAB5 c.3161T>C p.Leu1054Pro Missense 16/23 -
6-169629723-C-T THBS2 c.2203G>A p.Gly735Arg Missense 15/23 -
6-31779620-C-T HSPA1L c.130G>A p.Val44Met Missense 2/2 -
2-179596478-C-G TTN c.13392G>C p.Gln4464His Missense 55/312 -
3-47318830-C-A KIF9 c.35G>T p.Arg12Leu Missense 3/22 -
3-47318830-C-G KIF9 c.35G>C p.Arg12Pro Missense 3/22 -
4-187540040-C-G FAT1 c.7700G>C p.Arg2567Pro Missense 10/27 -
4-38924409-T-C FAM114A1 c.964T>C p.Ser322Pro Missense 9/15 -
9-33385690-G-C AQP7 c.700C>G p.Arg234Gly Missense 7/8 -
9-33385690-G-T AQP7 c.700C>A p.Arg234Ser Missense 7/8 -
11-55540964-G-T OR5D13 c.51G>T p.Leu17Phe Missense 1/1 -
17-6386883-C-T PITPNM3 c.541G>A p.Val181Ile Missense 6/20 -
2-166221710-G-C SCN2A c.3457G>C p.Glu1153Gln Missense 18/27 -
2-166221710-G-A SCN2A c.3457G>A p.Glu1153Lys Missense 18/27 -
3-115439685-G-A GAP43 c.673G>A p.Glu225Lys Missense 3/3 -
10-115527229-G-A PLEKHS1 c.350G>A p.Gly117Asp Missense 5/12 -
22-33673125-C-T LARGE1 c.1994G>A p.Arg665His Missense 14/15 -
5-140229680-C-T PCDHA1 c.2394+61411C>T - IntronicSNV - 1/3
5-140229680-C-G PCDHA1 c.2394+61411C>G - IntronicSNV - 1/3
9-138376477-G-A PPP1R26 c.121G>A p.Ala41Thr Missense 4/4 -
9-138376477-G-C PPP1R26 c.121G>C p.Ala41Pro Missense 4/4 -
3-130187662-G-T COL6A5 c.6814G>T p.Glu2272* Nonsense 38/40 -
17-31323959-C-T SPACA3 c.442C>T p.Arg148Trp Missense 3/5 -
17-17700914-C-T RAI1 c.4652C>T p.Ser1551Leu Missense 3/6 -
2-95537514-C-A TEKT4 c.190C>A p.Arg64Arg Synonymous 1/6 -
10-5014935-C-A AKR1C1 c.840C>A p.Asn280Lys Missense 7/9 -
10-5014935-C-T AKR1C1 c.840C>T p.Asn280Asn Synonymous 7/9 -
12-44130330-G-A PUS7L c.1579C>T p.Arg527Cys Missense 7/9 -
16-67236109-A-T ELMO3 c.1183A>T - stop_gained 13/20 -
11-102992224-A-C DYNC2H1 c.1484A>C p.Lys495Thr Missense 10/90 -
1-114248781-T-C PHTF1 c.1402A>G p.Asn468Asp Missense 12/18 -
16-75579362-G-A TMEM231 c.629C>T p.Ala210Val Missense 3/6 -
20-1559120-G-A SIRPB1 c.297C>T p.Asn99Asn Synonymous 2/6 -
2-43937434-C-T PLEKHH2 c.2179C>T p.Leu727Phe Missense 13/30 -
2-43937434-C-A PLEKHH2 c.2179C>A p.Leu727Ile Missense 13/30 -
1-230898528-G-A CAPN9 c.532G>A p.Ala178Thr Missense 4/20 -
4-87672235-G-T PTPN13 c.3124G>T p.Asp1042Tyr Missense 19/47 -
11-61908440-T-A INCENP c.1517T>A p.Met506Lys Missense 10/18 -
4-57164405-C-G KIAA1211 c.10C>G p.Arg4Gly Missense 4/11 -
3-125735573-C-G SLC41A3 c.890+1G>C - IntronicSNV - 7/10
5-106717069-C-T EFNA5 c.574G>A p.Val192Ile Missense 5/5 -
5-176317836-G-T HK3 c.521C>A p.Thr174Lys Missense 5/19 -
5-176317836-G-A HK3 c.521C>T p.Thr174Met Missense 5/19 -
19-58132343-A-T ZNF134 c.856A>T p.Arg286Trp Missense 3/3 -
4-77476772-G-T SHROOM3 c.179G>T p.Gly60Val Missense 2/11 -
4-77476772-G-A SHROOM3 c.179G>A p.Gly60Glu Missense 2/11 -
21-45670790-C-T DNMT3L c.812G>A p.Arg271Gln Missense 10/12 -
5-148691681-C-T AFAP1L1 c.934C>T p.Arg312* Nonsense 9/19 -
19-12874383-C-A HOOK2 c.1969G>T p.Glu657* Nonsense 22/23 -
19-12874383-C-T HOOK2 c.1969G>A p.Glu657Lys Missense 22/23 -
6-152737609-T-C SYNE1 c.5963A>G p.Glu1988Gly Missense 41/146 -
7-141755804-A-G MGAM c.3488A>G p.Lys1163Arg Missense 29/48 -
3-75787317-T-A ZNF717 c.1457A>T p.Lys486Ile Missense 5/5 -
1-205500475-G-A CDK18 c.1394G>A p.Arg465Gln Missense 16/16 -
7-5401564-C-T TNRC18 c.4496G>A p.Arg1499His Missense 13/30 -
16-67234818-G-A ELMO3 c.850G>A p.Ala284Thr Missense 10/20 -
4-70074186-A-C UGT2B11 c.885T>G p.Phe295Leu Missense 3/6 -
4-70074186-A-G UGT2B11 c.885T>C p.Phe295Phe Synonymous 3/6 -
13-52343361-C-T DHRS12 c.628G>A p.Ala210Thr Missense 8/8 -
19-49207114-G-A FUT2 c.901G>A p.Gly301Arg Missense 2/2 -
19-55593837-G-C EPS8L1 c.700G>C p.Gly234Arg Missense 7/15 -
7-111958309-G-T ZNF277 c.538G>T p.Glu180* Nonsense 5/12 -
19-55593837-G-T EPS8L1 c.700G>T p.Gly234Trp Missense 7/15 -
8-133764200-C-T TMEM71 c.145G>A p.Gly49Ser Missense 4/10 -
10-5139642-A-G AKR1C3 c.269A>G p.His90Arg Missense 3/9 -
11-57799281-C-T OR6Q1 c.857C>T p.Thr286Met Missense 1/1 -
17-67217999-G-C ABCA10 c.237C>G p.Tyr79* Nonsense 6/40 -
16-89211719-C-T ACSF3 c.1411C>T p.Arg471Trp Missense 9/11 -
17-51901797-G-A KIF2B c.1403G>A p.Gly468Glu Missense 1/1 -
12-6980453-C-T SPSB2 c.695G>A p.Arg232His Missense 3/3 -
16-31391356-C-A ITGAX c.3030C>A p.Phe1010Leu Missense 26/30 -
12-125453089-G-A DHX37 c.1399C>T p.Leu467Leu Synonymous 10/27 -
3-195506387-G-C MUC4 c.12064C>G p.Pro4022Ala Missense 2/25 -
1-155583942-G-A MSTO1 c.1591G>A p.Asp531Asn Missense 14/14 -
10-5139642-A-T AKR1C3 c.269A>T p.His90Leu Missense 3/9 -
17-80367243-C-A OGFOD3 c.423+1G>T - IntronicSNV - 4/9
1-35476384-G-A ZMYM6 c.1316C>T p.Thr439Ile Missense 9/16 -
7-150557707-A-C AOC1 c.1975A>C p.Asn659His Missense 4/5 -
7-114619791-A-G MDFIC c.775A>G p.Lys259Glu Missense 4/5 -
3-75786244-A-T ZNF717 c.2530T>A p.Cys844Ser Missense 5/5 -
6-168463623-C-T FRMD1 c.821G>A p.Arg274His Missense 7/11 -
4-145916666-A-C ANAPC10 c.417T>G p.Ile139Met Missense 5/5 -
16-89809209-T-C FANCA c.3764A>G p.Glu1255Gly Missense 37/43 -
13-24448998-A-G MIPEP c.590T>C p.Leu197Pro Missense 5/19 -
16-89809209-T-G FANCA c.3764A>C p.Glu1255Ala Missense 37/43 -
6-38998103-C-T DNAH8 c.14059C>T p.Arg4687* Nonsense 93/93 -
1-38463148-G-C FHL3 c.772C>G p.Leu258Val Missense 6/6 -
11-92532370-G-C FAT3 c.6191G>C p.Arg2064Pro Missense 9/25 -
19-7512016-C-G ARHGEF18 c.661C>G p.Leu221Val Missense 6/21 -
10-115374621-C-A NRAP c.3058G>T p.Ala1020Ser Missense 27/41 -
17-47241498-G-A B4GALNT2 c.995G>A p.Arg332His Missense 8/11 -
20-2380285-T-C TGM6 c.751T>C p.Trp251Arg Missense 6/13 -
17-66902302-G-T ABCA8 c.2161C>A p.Leu721Ile Missense 17/38 -
17-66902302-G-A ABCA8 c.2161C>T p.Leu721Phe Missense 17/38 -
7-130023245-G-A CPA1 c.497G>A p.Gly166Asp Missense 5/10 -
3-9952627-G-A IL17RE c.881G>A p.Arg294His Missense 9/16 -
11-92532370-G-A FAT3 c.6191G>A p.Arg2064His Missense 9/25 -
19-11322796-A-G DOCK6 c.4523T>C p.Met1508Thr Missense 36/48 -
1-70644596-G-A LRRC40 c.742C>T p.Leu248Phe Missense 6/15 -
9-139091593-C-T LHX3 c.400G>A p.Asp134Asn Missense 3/6 -
8-124440235-C-G WDYHV1 c.155C>G p.Ala52Gly Missense 2/6 -
1-145530980-C-T ITGA10 c.712C>T p.Arg238Trp Missense 7/30 -
1-145530980-C-G ITGA10 c.712C>G p.Arg238Gly Missense 7/30 -
17-77984172-G-A TBC1D16 c.566C>T p.Thr189Met Missense 3/12 -
1-145530980-C-A ITGA10 c.712C>A p.Arg238Arg Synonymous 7/30 -
17-77984172-G-T TBC1D16 c.566C>A p.Thr189Lys Missense 3/12 -
10-103342623-C-T POLL c.1091G>A p.Arg364His Missense 7/9 -
12-52818419-C-T KRT75 c.1538G>A p.Gly513Asp Missense 9/9 -
20-60885242-C-T LAMA5 c.10726G>A p.Glu3576Lys Missense 77/80 -
1-86590578-T-C COL24A1 c.1441A>G p.Met481Val Missense 3/60 -
1-86590578-T-G COL24A1 c.1441A>C p.Met481Leu Missense 3/60 -
16-72057193-C-T DHODH c.949C>T p.Arg317Trp Missense 7/9 -
8-2857641-C-T CSMD1 c.8042G>A p.Gly2681Asp Missense 53/70 -
16-88931970-C-T PABPN1L c.459+1G>A - IntronicSNV - 3/6
15-43571404-C-A TGM7 c.1750G>T p.Val584Leu Missense 11/13 -
15-43571404-C-T TGM7 c.1750G>A p.Val584Met Missense 11/13 -
22-22892314-G-C PRAME c.787C>G p.Arg263Gly Missense 4/5 -
6-150386752-C-T ULBP3 c.410G>A p.Arg137His Missense 3/5 -
6-30071363-C-A TRIM31 c.1228G>T p.Glu410* Nonsense 9/9 -
6-30071363-C-T TRIM31 c.1228G>A p.Glu410Lys Missense 9/9 -
5-33527438-C-G ADAMTS12 c.4640G>C p.Ser1547Thr Missense 24/24 -
14-23315190-G-A MMP14 c.1691G>A p.Arg564His Missense 10/10 -
3-195506579-T-C MUC4 c.11872A>G p.Thr3958Ala Missense 2/25 -
2-3425731-G-A TRAPPC12 c.1244G>A p.Gly415Glu Missense 4/12 -
15-59499896-G-A MYO1E c.1530+984C>T - IntronicSNV - 14/27
8-70515476-A-G SULF1 c.1111A>G p.Ile371Val Missense 11/23 -
20-61595614-C-T SLC17A9 c.857C>T p.Ala286Val Missense 8/13 -
8-39103683-G-A ADAM32 c.1900G>A p.Gly634Arg Missense 17/25 -
18-61379929-T-A SERPINB11 c.357+2T>A - IntronicSNV - 5/8
11-46388933-G-A DGKZ c.821G>A p.Ser274Asn Missense 3/32 -
2-202254210-C-A TRAK2 c.1210G>T p.Val404Leu Missense 12/16 -
4-184180853-A-T WWC2 c.1258A>T p.Thr420Ser Missense 10/23 -
19-35250448-C-T ZNF599 c.1258G>A p.Glu420Lys Missense 4/4 -
19-35250448-C-A ZNF599 c.1258G>T p.Glu420* Nonsense 4/4 -
12-21790075-C-T LDHB c.767G>A p.Ser256Asn Missense 7/8 -
3-125735573-C-T SLC41A3 c.890+1G>A - IntronicSNV - 7/10
21-47717486-C-G YBEY c.442C>G p.Leu148Val Missense 5/5 -
5-34945012-G-A DNAJC21 c.1024G>A p.Val342Met Missense 8/13 -
3-46944251-G-A PTH1R c.1366G>A p.Ala456Thr Missense 15/16 -
3-46944251-G-T PTH1R c.1366G>T p.Ala456Ser Missense 15/16 -
1-12907400-G-A HNRNPCL1 c.743C>T p.Ala248Val Missense 2/2 -
1-152192471-C-T HRNR c.1634G>A p.Arg545His Missense 3/3 -
12-56863347-C-G SPRYD4 c.610C>G p.Pro204Ala Missense 2/2 -
12-56863347-C-T SPRYD4 c.610C>T p.Pro204Ser Missense 2/2 -
22-37875447-T-C MFNG c.497A>G p.Tyr166Cys Missense 4/8 -
7-100457578-T-C SLC12A9 c.1049T>C p.Ile350Thr Missense 8/14 -
6-32015684-G-A TNXB c.10145C>T p.Ser3382Phe Missense 30/44 -
X-135764990-C-T ARHGEF6 c.1406G>A p.Arg469Gln Missense 13/22 -
6-32015684-G-C TNXB c.10145C>G p.Ser3382Cys Missense 30/44 -
22-42525035-C-G CYP2D6 c.505G>C p.Gly169Arg Missense 3/9 -
16-67222999-G-A EXOC3L1 c.131C>T p.Pro44Leu Missense 3/14 -
4-159161483-A-T TMEM144 c.715A>T p.Ile239Phe Missense 10/13 -
19-21239544-C-T ZNF430 c.430C>T p.Gln144* Nonsense 5/5 -
9-139101101-G-A QSOX2 c.1570C>T p.Arg524Trp Missense 12/12 -
4-6302816-C-T WFS1 c.1294C>T p.Leu432Leu Synonymous 8/8 -
19-21239544-C-A ZNF430 c.430C>A p.Gln144Lys Missense 5/5 -
11-71260065-G-A KRTAP5-9 c.362G>A p.Arg121His Missense 1/1 -
4-6302816-C-G WFS1 c.1294C>G p.Leu432Val Missense 8/8 -
7-76126737-C-T DTX2 c.1093C>T p.Arg365Cys Missense 6/11 -
X-30269409-C-T MAGEB1 c.799C>T p.Arg267Cys Missense 4/4 -
2-220405073-G-T CHPF c.1360C>A p.Arg454Ser Missense 4/4 -
4-165961607-A-G TRIM60 c.383A>G p.His128Arg Missense 3/3 -
2-220405073-G-A CHPF c.1360C>T p.Arg454Cys Missense 4/4 -
2-220405073-G-C CHPF c.1360C>G p.Arg454Gly Missense 4/4 -
15-100594247-G-A ADAMTS17 c.2150C>T p.Ser717Leu Missense 16/22 -
19-40520811-G-T ZNF546 c.1634G>T p.Arg545Ile Missense 7/7 -
14-94780642-A-T SERPINA6 c.344T>A p.Leu115His Missense 2/5 -
17-80684784-G-A FN3KRP c.667G>A p.Val223Ile Missense 6/6 -
4-69796345-C-G UGT2A3 c.1223G>C p.Gly408Ala Missense 5/6 -
2-179410721-G-A TTN c.87538C>T p.Arg29180Cys Missense 292/312 -
22-24225971-G-T SLC2A11 c.1018G>T p.Glu340* Nonsense 10/13 -
7-117250575-G-C CFTR c.2991G>C p.Leu997Phe Missense 19/27 -
14-81970587-A-G SEL1L c.572T>C p.Met191Thr Missense 5/21 -
4-69796345-C-T UGT2A3 c.1223G>A p.Gly408Glu Missense 5/6 -
22-19960533-G-A ARVCF c.2465C>T p.Ala822Val Missense 15/20 -
3-19947227-G-A EFHB c.1303C>T p.Arg435* Nonsense 6/13 -
4-56884001-C-T CEP135 c.2990C>T p.Ser997Leu Missense 22/26 -
17-76201182-A-G AFMID c.476A>G p.Tyr159Cys Missense 7/11 -
19-14755002-A-G ADGRE3 c.968T>C p.Leu323Pro Missense 9/16 -
12-113629440-A-G RITA1 c.628A>G p.Thr210Ala Missense 4/4 -
17-6981403-G-A CLEC10A c.97C>T p.Arg33Cys Missense 3/9 -
15-67528353-C-T AAGAB c.415G>A p.Val139Ile Missense 4/10 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
11-64815505-C-G NAALADL1 c.1364G>C p.Arg455Thr Missense 11/18 -
2-240951071-C-T NDUFA10 c.712G>A p.Glu238Lys Missense 6/10 -
1-240656550-G-C GREM2 c.226C>G p.Gln76Glu Missense 2/2 -
19-41622481-G-C CYP2F1 c.293G>C p.Arg98Pro Missense 3/10 -
21-43524057-C-T UMODL1 c.1379C>T p.Ala460Val Missense 9/23 -
20-44815292-C-T CDH22 c.1598G>A p.Arg533His Missense 10/12 -
21-43524057-C-A UMODL1 c.1379C>A p.Ala460Glu Missense 9/23 -
19-49686408-A-C TRPM4 c.1682A>C p.Asp561Ala Missense 12/25 -
2-74754170-G-A AUP1 c.1094C>T p.Pro365Leu Missense 11/12 -
22-50655543-G-T SELENOO c.1831G>T p.Gly611Trp Missense 8/9 -
6-160969693-T-G LPA c.4974-2A>C - IntronicSNV - 30/38
4-165961607-A-T TRIM60 c.383A>T p.His128Leu Missense 3/3 -
9-130575515-C-T FPGS c.1246C>T p.Arg416Cys Missense 15/15 -
16-27374565-A-G IL4R c.1892A>G p.Tyr631Cys Missense 11/11 -
2-15555780-C-T NBAS c.2827G>A p.Glu943Lys Missense 25/52 -
19-50309974-G-A AP2A1 c.2893G>A p.Val965Ile Missense 24/24 -
2-219000267-G-A CXCR2 c.743G>A p.Arg248Gln Missense 3/3 -
5-140209703-C-T PCDHA1 c.2394+41434C>T - IntronicSNV - 1/3
1-86894204-C-T CLCA2 c.428C>T p.Pro143Leu Missense 3/14 -
9-123253728-G-A CDK5RAP2 c.1339C>T p.Arg447Cys Missense 13/38 -
9-106880515-G-C SMC2 c.1855G>C p.Ala619Pro Missense 15/25 -
9-106880515-G-A SMC2 c.1855G>A p.Ala619Thr Missense 15/25 -
9-106880515-G-T SMC2 c.1855G>T p.Ala619Ser Missense 15/25 -
12-120306959-C-T CIT c.143G>A p.Arg48Gln Missense 3/47 -
9-130911821-T-G LCN2 c.17T>G p.Leu6Arg Missense 1/7 -
11-5010915-C-T MMP26 c.137C>T p.Ser46Leu Missense 2/6 -
11-5010915-C-A MMP26 c.137C>A p.Ser46* Nonsense 2/6 -
8-110588094-G-A SYBU c.1030C>T p.Arg344Trp Missense 9/9 -
17-17925164-C-T ATPAF2 c.511G>A p.Val171Met Missense 6/8 -
17-17925164-C-A ATPAF2 c.511G>T p.Val171Leu Missense 6/8 -
11-6623080-A-G RRP8 c.463+2T>C - IntronicSNV - 2/6
2-167133656-G-A SCN9A c.2678C>T p.Thr893Met Missense 16/27 -
11-57427232-A-G CLP1 c.284A>G p.Asn95Ser Missense 2/3 -
2-99901150-C-T LYG1 c.466+1G>A - IntronicSNV - 6/6
19-11943225-C-T ZNF440 c.1234C>T p.Arg412* Nonsense 4/4 -
4-70346545-T-G UGT2B4 c.1394A>C p.Glu465Ala Missense 6/6 -
2-198950258-A-T PLCL1 c.2017A>T p.Thr673Ser Missense 2/6 -
7-48413954-C-G ABCA13 c.11144C>G p.Ser3715Trp Missense 34/62 -
14-23512056-G-A PSMB11 c.622G>A p.Ala208Thr Missense 1/1 -
1-51584465-C-A C1orf185 c.250C>A p.Gln84Lys Missense 3/5 -
1-51584465-C-T C1orf185 c.250C>T p.Gln84* Nonsense 3/5 -
8-104924317-C-A RIMS2 c.1729C>A p.Arg577Ser Missense 6/24 -
6-486705-A-T EXOC2 c.2741T>A p.Phe914Tyr Missense 28/28 -
4-69512863-G-A UGT2B15 c.1552C>T p.Arg518* Nonsense 6/6 -
8-104924317-C-T RIMS2 c.1729C>T p.Arg577Cys Missense 6/24 -
X-117764384-C-A DOCK11 c.3817C>A p.Arg1273Ser Missense 35/53 -
19-45206933-G-A CEACAM16 c.352G>A p.Glu118Lys Missense 3/7 -
7-48413954-C-T ABCA13 c.11144C>T p.Ser3715Leu Missense 34/62 -
1-182787975-G-C NPL c.634G>C p.Ala212Pro Missense 10/13 -
5-121488148-G-A ZNF474 c.463G>A p.Glu155Lys Missense 2/2 -
12-18891703-C-T CAPZA3 c.501C>T p.Asn167Asn Synonymous 1/1 -
8-124975628-C-T FER1L6 c.187C>T p.Pro63Ser Missense 3/41 -
2-39262409-G-A SOS1 c.1018C>T p.Pro340Ser Missense 8/23 -
4-190873331-G-T FRG1 c.148G>T p.Val50Leu Missense 3/9 -
19-12780193-G-A WDR83OS c.25C>T p.Pro9Ser Missense 1/4 -
20-44533618-C-T PLTP c.845G>A p.Arg282Gln Missense 9/16 -
12-96181085-G-C NTN4 c.217C>G p.Arg73Gly Missense 2/10 -
12-96181085-G-A NTN4 c.217C>T p.Arg73Trp Missense 2/10 -
21-46078062-G-A TSPEAR c.82+53286C>T - IntronicSNV - 1/11
2-6990069-C-G CMPK2 c.1262G>C p.Gly421Ala Missense 5/5 -
14-105413876-C-T AHNAK2 c.7912G>A p.Asp2638Asn Missense 7/7 -
2-179410721-G-T TTN c.87538C>A p.Arg29180Ser Missense 292/312 -
1-169500178-G-C F5 c.5054C>G p.Thr1685Ser Missense 15/25 -
8-113649078-C-T CSMD3 c.3371G>A p.Arg1124Gln Missense 21/69 -
1-36053996-G-A TFAP2E c.628G>A p.Gly210Ser Missense 4/7 -
20-54961483-G-A AURKA c.149C>T p.Pro50Leu Missense 3/9 -
2-239040065-G-A ESPNL c.2710G>A p.Val904Met Missense 9/9 -
7-20691167-G-A ABCB5 c.122G>A p.Arg41Gln Missense 4/19 -
17-63149561-A-G RGS9 c.79A>G p.Met27Val Missense 2/19 -
1-9322376-C-T H6PD c.1004C>T p.Pro335Leu Missense 4/5 -
15-48500263-G-C SLC12A1 c.347G>C p.Arg116Pro Missense 2/27 -
14-31774324-C-T HEATR5A c.5026G>A p.Gly1676Arg Missense 32/36 -
1-22895820-G-A EPHA8 c.133G>A p.Gly45Ser Missense 2/17 -
2-216986833-T-A XRCC5 c.540T>A p.Asp180Glu Missense 6/21 -
2-121712926-C-T GLI2 c.563C>T p.Ala188Val Missense 5/14 -
15-42375438-G-C PLA2G4D c.630C>G p.His210Gln Missense 8/20 -
21-42813714-G-A MX1 c.802G>A p.Val268Met Missense 12/19 -
2-107049414-G-A RGPD3 c.2446C>T p.Arg816Cys Missense 17/23 -
3-121212497-G-A POLQ c.2350C>T p.Arg784Cys Missense 15/30 -
3-11076248-C-T SLC6A1 c.1559C>T p.Thr520Met Missense 15/16 -
19-19218779-C-G SLC25A42 c.574C>G p.Pro192Ala Missense 7/8 -
1-17597423-C-T PADI3 c.881C>T p.Ala294Val Missense 8/16 -
2-107049414-G-C RGPD3 c.2446C>G p.Arg816Gly Missense 17/23 -
3-87018099-T-C VGLL3 c.578A>G p.His193Arg Missense 3/4 -
4-175898913-C-T ADAM29 c.2237C>T p.Thr746Met Missense 4/4 -
3-87018099-T-A VGLL3 c.578A>T p.His193Leu Missense 3/4 -
19-17017773-G-T CPAMD8 c.4157C>A p.Ala1386Asp Missense 32/42 -
2-128393336-C-T MYO7B c.5782C>T p.Arg1928Trp Missense 43/47 -
19-17017773-G-A CPAMD8 c.4157C>T p.Ala1386Val Missense 32/42 -
11-73834139-G-C C2CD3 c.1259C>G p.Ser420Cys Missense 8/31 -
7-20406740-A-T ITGB8 c.319A>T p.Ile107Leu Missense 3/14 -
16-5115751-C-A C16orf89 c.159G>T p.Arg53Ser Missense 1/8 -
9-70484397-C-T CBWD5 c.316G>A p.Gly106Ser Missense 3/13 -
9-70484397-C-G CBWD5 c.316G>C p.Gly106Arg Missense 3/13 -
9-70484397-C-A CBWD5 c.316G>T p.Gly106Cys Missense 3/13 -
19-21131930-T-A ZNF85 c.610T>A p.Cys204Ser Missense 4/4 -
19-21131930-T-C ZNF85 c.610T>C p.Cys204Arg Missense 4/4 -
1-186280235-G-A PRG4 c.3569G>A p.Gly1190Asp Missense 9/13 -
19-49123796-G-A SPHK2 c.25G>A p.Glu9Lys Missense 2/7 -
9-125437901-C-T OR1L3 c.493C>T p.Arg165Trp Missense 1/1 -
11-55032500-C-T TRIM48 c.169C>T p.Leu57Phe Missense 2/6 -
15-31359348-G-A TRPM1 c.470C>T p.Ser157Phe Missense 5/27 -
17-56386607-G-T TSPOAP1 c.4026C>A p.Asp1342Glu Missense 22/32 -
14-77808250-C-T TMED8 c.842G>A p.Arg281Gln Missense 6/6 -
12-5154014-G-T KCNA5 c.701G>T p.Arg234Leu Missense 1/1 -
2-21238413-C-G APOB c.3337G>C p.Asp1113His Missense 22/29 -
15-29561606-T-C FAM189A1 c.277-16924A>G - IntronicSNV - 2/10
2-232393197-G-T NMUR1 c.535C>A p.Arg179Ser Missense 2/3 -
1-147096153-G-C BCL9 c.3674G>C p.Arg1225Pro Missense 10/10 -
8-143310853-G-A TSNARE1 c.1534C>T p.Arg512* Nonsense 13/14 -
9-133961026-G-C LAMC3 c.4146G>C p.Arg1382Ser Missense 25/28 -
8-37729024-G-A RAB11FIP1 c.1623-978C>T - IntronicSNV - 3/4
13-108861033-G-A LIG4 c.2584C>T p.His862Tyr Missense 2/2 -
19-41622481-G-A CYP2F1 c.293G>A p.Arg98His Missense 3/10 -
2-170350279-A-G BBS5 c.551A>G p.Asn184Ser Missense 7/12 -
17-66879965-C-T ABCA8 c.3554G>A p.Gly1185Glu Missense 27/38 -
1-110282511-A-G GSTM3 c.68T>C p.Leu23Pro Missense 3/9 -
10-74100811-C-T DNAJB12 c.575G>A - missense_variant 4/8 -
14-20864875-G-A TEP1 c.1564C>T p.Pro522Ser Missense 10/55 -
3-195507874-G-T MUC4 c.10577C>A p.Thr3526Asn Missense 2/25 -
3-195507874-G-A MUC4 c.10577C>T p.Thr3526Ile Missense 2/25 -
13-32869434-C-T FRY c.8879C>T p.Thr2960Met Missense 61/61 -
11-74441891-C-T CHRDL2 c.43G>A p.Ala15Thr Missense 1/11 -
11-66262851-C-T DPP3 c.1378C>T p.Arg460Trp Missense 13/17 -
11-66262851-C-A DPP3 c.1378C>A p.Arg460Arg Synonymous 13/17 -
1-33956900-C-T ZSCAN20 c.1042C>T p.Arg348Trp Missense 6/8 -
19-38579450-G-A SIPA1L3 c.1624G>A p.Gly542Arg Missense 4/22 -
12-112185166-A-T ACAD10 c.2462A>T p.Asn821Ile Missense 16/21 -
6-29910622-C-T HLA-A c.162C>T p.Asp54Asp Synonymous 2/8 -
5-138764299-C-A DNAJC18 c.301G>T p.Ala101Ser Missense 3/8 -
14-90770476-T-A NRDE2 c.808A>T p.Asn270Tyr Missense 5/14 -
12-132400547-C-G ULK1 c.1721C>G p.Pro574Arg Missense 19/28 -
18-44159694-C-T LOXHD1 c.1708G>A p.Asp570Asn Missense 13/40 -
4-1657150-G-T FAM53A c.437C>A p.Thr146Asn Missense 4/5 -
6-90605664-C-T GJA10 c.1477C>T p.Gln493* Nonsense 1/1 -
6-90605664-C-G GJA10 c.1477C>G p.Gln493Glu Missense 1/1 -
11-130275533-C-G ADAMTS8 c.2590G>C p.Gly864Arg Missense 9/9 -
19-5772823-G-T CATSPERD c.1788G>T p.Glu596Asp Missense 20/22 -
7-150772536-C-T SLC4A2 c.3242C>T p.Pro1081Leu Missense 20/23 -
19-5772823-G-C CATSPERD c.1788G>C p.Glu596Asp Missense 20/22 -
15-102462857-C-T OR4F4 c.406G>A p.Gly136Ser Missense 1/1 -
15-102462857-C-G OR4F4 c.406G>C p.Gly136Arg Missense 1/1 -
4-113199046-G-A TIFA c.527C>T p.Pro176Leu Missense 2/2 -
13-77574606-C-A CLN5 c.579C>A - missense_variant 4/4 -
3-194390824-C-T LSG1 c.140G>A p.Arg47His Missense 2/14 -
12-52818419-C-G KRT75 c.1538G>C p.Gly513Ala Missense 9/9 -
19-43414996-G-A PSG6 c.442C>T p.Pro148Ser Missense 3/6 -
10-98064303-C-T DNTT c.49C>T p.Arg17Trp Missense 1/11 -
7-1477769-C-A MICALL2 c.2275G>T p.Val759Leu Missense 12/17 -
5-13864592-C-G DNAH5 c.4510G>C p.Gly1504Arg Missense 28/79 -
5-13864592-C-T DNAH5 c.4510G>A p.Gly1504Arg Missense 28/79 -
19-21910041-G-A ZNF100 c.1073C>T p.Ser358Leu Missense 5/5 -
4-190947069-G-A FRG2 c.484C>T p.Arg162Trp Missense 4/4 -
4-190947069-G-C FRG2 c.484C>G p.Arg162Gly Missense 4/4 -
1-12175658-G-A TNFRSF8 c.818G>A p.Cys273Tyr Missense 8/15 -
12-7805414-C-T APOBEC1 c.62G>A p.Trp21* Nonsense 3/5 -
19-15131276-C-G CCDC105 c.679C>G p.Leu227Val Missense 3/7 -
6-26199324-C-T HIST1H3D c.-257G>A - 5_prime_UTR_variant 1/2 -
8-145235403-C-T MROH1 c.539C>T p.Thr180Met Missense 7/44 -
6-167717457-C-G UNC93A c.676C>G p.Arg226Gly Missense 5/8 -
6-167717457-C-T UNC93A c.676C>T p.Arg226* Nonsense 5/8 -
20-47558417-C-T ARFGEF2 c.169C>T p.Pro57Ser Missense 3/39 -
11-61908440-T-C INCENP c.1517T>C p.Met506Thr Missense 10/18 -
5-115351368-G-C LVRN c.2662G>C p.Glu888Gln Missense 18/20 -
17-7909874-C-T GUCY2D c.1220C>T p.Thr407Met Missense 4/20 -
6-116446633-A-C COL10A1 c.23T>G p.Leu8Trp Missense 2/3 -
17-6979115-C-T CLEC10A c.538G>A p.Glu180Lys Missense 7/9 -
14-65390839-A-G CHURC1 c.251A>G p.Tyr84Cys Missense 2/4 -
8-29989821-G-T MBOAT4 c.946C>A p.Arg316Arg Synonymous 3/3 -
8-29989821-G-A MBOAT4 c.946C>T p.Arg316Trp Missense 3/3 -
8-29989821-G-C MBOAT4 c.946C>G p.Arg316Gly Missense 3/3 -
20-60884427-C-A LAMA5 c.11053G>T p.Gly3685Trp Missense 80/80 -
6-32557446-G-A HLA-DRB1 c.74C>T p.Pro25Leu Missense 1/6 -
11-1017596-T-G MUC6 c.5205A>C p.Gln1735His Missense 31/33 -
5-176025287-C-T GPRIN1 c.1549G>A p.Gly517Arg Missense 2/2 -
7-123516973-A-G HYAL4 c.1210A>G p.Ser404Gly Missense 5/5 -
3-46580676-A-T LRRC2 c.349T>A p.Leu117Met Missense 4/9 -
3-46580676-A-G LRRC2 c.349T>C p.Leu117Leu Synonymous 4/9 -
15-42145904-G-A SPTBN5 c.9856C>T p.Pro3286Ser Missense 58/68 -
5-82789493-G-A VCAN c.574G>A p.Gly192Arg Missense 4/15 -
15-66249932-C-T MEGF11 c.1240G>A p.Asp414Asn Missense 10/23 -
8-18080308-A-T NAT1 c.752A>T p.Asp251Val Missense 3/3 -
12-56823977-C-T TIMELESS c.998G>A p.Arg333His Missense 10/29 -
12-56823977-C-G TIMELESS c.998G>C p.Arg333Pro Missense 10/29 -
12-18435379-A-C PIK3C2G c.364A>C p.Lys122Gln Missense 2/32 -
20-1212260-T-C RAD21L1 c.365T>C p.Met122Thr Missense 4/14 -
17-34893655-C-G PIGW c.705C>G p.His235Gln Missense 2/2 -
17-34893655-C-T PIGW c.705C>T p.His235His Synonymous 2/2 -
2-27355487-G-C PREB c.736C>G p.Arg246Gly Missense 5/9 -
2-27355487-G-A PREB c.736C>T p.Arg246Cys Missense 5/9 -
11-75298765-T-A MAP6 c.1781A>T p.Asp594Val Missense 4/4 -
2-27355487-G-T PREB c.736C>A p.Arg246Ser Missense 5/9 -
11-64882807-G-A TM7SF2 c.914G>A p.Arg305His Missense 8/10 -
20-35441225-G-T SOGA1 c.1625C>A p.Pro542Gln Missense 6/15 -
1-161518315-G-A FCGR3A c.530C>T - missense_variant 3/5 -
6-84798956-G-A MRAP2 c.374G>A p.Arg125His Missense 4/4 -
22-29879534-C-T NEFH c.1054C>T p.Arg352Cys Missense 2/4 -
22-29879534-C-A NEFH c.1054C>A p.Arg352Ser Missense 2/4 -
20-31652478-G-T BPIFB3 c.751G>T p.Val251Leu Missense 8/15 -
8-124701138-C-T ANXA13 c.691G>A p.Asp231Asn Missense 9/11 -
7-37936527-C-G NME8 c.1600C>G p.Arg534Gly Missense 17/18 -
5-179298491-C-T TBC1D9B c.2455G>A p.Glu819Lys Missense 15/21 -
1-248436946-C-T OR2T33 c.171G>A p.Met57Ile Missense 1/1 -
9-34489429-C-G DNAI1 c.370C>G p.Arg124Gly Missense 5/20 -
19-37880227-C-T ZNF527 c.1276C>T p.Arg426Cys Missense 5/5 -
2-238280808-G-A COL6A3 c.3852C>T p.Phe1284Phe Synonymous 9/44 -
16-20387497-C-T PDILT c.436G>A p.Val146Ile Missense 4/12 -
1-108993329-C-T NBPF6 c.106C>T p.Arg36* Nonsense 2/15 -
5-86659294-A-G RASA1 c.1583A>G p.Tyr528Cys Missense 11/25 -
8-39646261-T-A ADAM2 c.571-2A>T - IntronicSNV - 7/20
1-84962049-A-G RPF1 c.1004A>G p.His335Arg Missense 8/9 -
9-127990266-G-A RABEPK c.604G>A p.Gly202Arg Missense 6/8 -
14-76088435-T-C FLVCR2 c.683T>C p.Ile228Thr Missense 2/10 -
2-40656879-A-T SLC8A1 c.542T>A p.Ile181Asn Missense 2/11 -
2-40656879-A-G SLC8A1 c.542T>C p.Ile181Thr Missense 2/11 -
10-27702323-G-A PTCHD3 c.857C>T p.Pro286Leu Missense 1/4 -
7-80117849-A-C GNAT3 c.303+2T>G - IntronicSNV - 3/7
7-6449794-A-G DAGLB c.1787T>C p.Ile596Thr Missense 14/15 -
4-1360144-G-T UVSSA c.1213G>T p.Asp405Tyr Missense 8/14 -
4-1360144-G-A UVSSA c.1213G>A p.Asp405Asn Missense 8/14 -
10-12940631-C-A CCDC3 c.598G>T p.Val200Phe Missense 3/3 -
6-84895060-T-C CEP162 c.1508A>G p.Gln503Arg Missense 13/27 -
12-124220119-A-G ATP6V0A2 c.773A>G p.Glu258Gly Missense 8/20 -
14-65237685-A-C SPTB c.5716T>G p.Phe1906Val Missense 26/35 -
9-21239540-G-A IFNA14 c.395C>T p.Thr132Ile Missense 1/1 -
8-144942387-G-A EPPK1 c.5035C>T p.Arg1679Cys Missense 2/3 -
17-9497560-C-T CFAP52 c.458C>T p.Ala153Val Missense 4/14 -
22-50655543-G-A SELENOO c.1831G>A p.Gly611Arg Missense 8/9 -
12-63541427-T-G AVPR1A c.971-2A>C - IntronicSNV - 1/1
2-99012373-C-T CNGA3 c.740C>T p.Thr247Met Missense 8/8 -
11-308397-A-C IFITM2 c.205A>C p.Thr69Pro Missense 1/2 -
11-55873365-C-T OR8H2 c.847C>T p.Pro283Ser Missense 1/1 -
19-9453539-G-A ZNF559-ZNF177 c.-391+4281G>A - intron_variant - 3/11
2-15555780-C-A NBAS c.2827G>T p.Glu943* Nonsense 25/52 -
17-18003919-G-A DRG2 c.577G>A p.Val193Ile Missense 7/13 -
6-32486332-C-G HLA-DRB5 c.763+1G>C - IntronicSNV - 4/5
2-99949559-T-C TXNDC9 c.115A>G p.Met39Val Missense 2/5 -
15-31822969-C-T OTUD7A c.593G>A p.Arg198Gln Missense 7/14 -
10-1279782-C-A ADARB2 c.1367G>T p.Arg456Leu Missense 6/10 -
10-1279782-C-G ADARB2 c.1367G>C p.Arg456Pro Missense 6/10 -
10-1279782-C-T ADARB2 c.1367G>A p.Arg456Gln Missense 6/10 -
3-155485371-G-T C3orf33 c.281C>A p.Pro94His Missense 5/6 -
2-28081439-C-A RBKS c.90-1G>T - IntronicSNV - 1/7
10-27688101-G-C PTCHD3 c.1426C>G p.Arg476Gly Missense 4/4 -
9-71002414-C-T PGM5 c.607C>T p.Leu203Phe Missense 4/11 -
9-71002414-C-A PGM5 c.607C>A p.Leu203Ile Missense 4/11 -
7-17913195-G-A SNX13 c.709C>T p.Pro237Ser Missense 8/26 -
15-66209174-C-T MEGF11 c.2207G>A p.Cys736Tyr Missense 17/23 -
17-3582983-G-A P2RX5 c.1160C>T p.Pro387Leu Missense 11/12 -
6-154411110-C-G OPRM1 c.440C>G p.Ser147Cys Missense 2/4 -
1-151502589-G-A CGN c.2311G>A p.Glu771Lys Missense 12/21 -
3-130159601-G-C COL6A5 c.6419G>C p.Gly2140Ala Missense 35/40 -
11-57971290-C-T OR1S2 c.364G>A p.Val122Ile Missense 1/1 -
1-156347121-G-A RHBG c.10G>A p.Val4Met Missense 3/12 -
5-149247713-A-G PDE6A c.2144T>C p.Met715Thr Missense 18/22 -
11-82641312-T-C DDIAS c.389T>C p.Val130Ala Missense 5/6 -
2-74040982-T-C C2orf78 c.476T>C p.Met159Thr Missense 2/3 -
2-74040982-T-A C2orf78 c.476T>A p.Met159Lys Missense 2/3 -
11-62289384-T-C AHNAK c.342+13091A>G - IntronicSNV - 4/5
12-53164822-A-G KRT76 c.1445T>C p.Ile482Thr Missense 7/9 -
12-130846146-G-A PIWIL1 c.1970G>A p.Arg657His Missense 16/20 -
12-55357640-T-C TESPA1 c.541A>G p.Ile181Val Missense 8/11 -
19-12502301-G-C ZNF799 c.911C>G p.Thr304Ser Missense 4/4 -
2-219000267-G-T CXCR2 c.743G>T p.Arg248Leu Missense 3/3 -
10-1279753-C-T ADARB2 c.1396G>A p.Val466Met Missense 6/10 -
7-30706883-C-A CRHR2 c.357G>T p.Lys119Asn Missense 4/13 -
19-39760612-C-T IFNL2 c.562C>T p.Arg188* Nonsense 6/6 -
19-39760612-C-G IFNL2 c.562C>G p.Arg188Gly Missense 6/6 -
19-55329814-G-C KIR3DL1 c.115G>C p.Val39Leu Missense 3/9 -
12-124496961-C-G ZNF664 c.270C>G p.Tyr90* Nonsense 5/5 -
12-124496961-C-A ZNF664 c.270C>A p.Tyr90* Nonsense 5/5 -
19-55329814-G-A KIR3DL1 c.115G>A p.Val39Met Missense 3/9 -
13-103338721-T-A METTL21C c.455A>T p.Asn152Ile Missense 4/4 -
20-47863881-C-A ZNFX1 c.5680G>T p.Asp1894Tyr Missense 14/14 -
13-103338721-T-C METTL21C c.455A>G p.Asn152Ser Missense 4/4 -
19-2877663-G-A ZNF556 c.707G>A p.Cys236Tyr Missense 4/4 -
X-50377847-C-T SHROOM4 c.1226G>A p.Arg409His Missense 4/9 -
11-76892529-G-A MYO7A c.2798G>A p.Arg933His Missense 23/49 -
16-2376463-G-T ABCA3 c.5C>A p.Ala2Asp Missense 4/33 -
12-44130330-G-T PUS7L c.1579C>A p.Arg527Ser Missense 7/9 -
8-55541303-A-G RP1 c.4861A>G p.Lys1621Glu Missense 4/4 -
3-195474138-A-C MUC4 c.16148T>G p.Leu5383Arg Missense 25/25 -
22-36691696-A-G MYH9 c.3340T>C p.Ser1114Pro Missense 26/41 -
1-235618996-C-A B3GALNT2 c.1026G>T p.Trp342Cys Missense 9/12 -
16-22545865-G-C NPIPB5 c.1561G>C p.Ala521Pro Missense 7/7 -
15-90210333-G-A PLIN1 c.1043C>T p.Ser348Leu Missense 8/9 -
11-66029351-A-G KLC2 c.367A>G p.Ser123Gly Missense 3/16 -
19-1488218-G-A PCSK4 c.356C>T p.Thr119Met Missense 3/15 -
4-69426271-G-T UGT2B17 c.989C>A p.Ala330Asp Missense 3/6 -
4-69426271-G-A UGT2B17 c.989C>T p.Ala330Val Missense 3/6 -
4-103553381-C-G MANBA c.2473G>C p.Ala825Pro Missense 17/17 -
6-138753437-C-A NHSL1 c.2057G>T p.Arg686Leu Missense 5/7 -
14-70924736-G-A ADAM21 c.520G>A p.Gly174Ser Missense 2/2 -
2-238726562-C-T RBM44 c.1003C>T p.Gln335* Nonsense 3/16 -
8-133945869-G-A TG c.4880G>A p.Cys1627Tyr Missense 24/48 -
1-212799882-A-T FAM71A c.1663A>T p.Lys555* Nonsense 1/1 -
9-140772613-C-T CACNA1B c.228C>T p.Phe76Phe Synonymous 1/47 -
9-140772613-C-G CACNA1B c.228C>G p.Phe76Leu Missense 1/47 -
9-140772613-C-A CACNA1B c.228C>A p.Phe76Leu Missense 1/47 -
11-92623798-G-T FAT3 c.13193G>T p.Gly4398Val Missense 25/25 -
20-1961097-G-A PDYN c.637C>T p.Arg213Cys Missense 3/3 -
1-220313531-G-A IARS2 c.2314G>A p.Glu772Lys Missense 19/23 -
12-11244180-G-C TAS2R43 c.649C>G p.Gln217Glu Missense 1/1 -
17-79683077-G-T SLC25A10 c.416G>T p.Arg139Leu Missense 5/11 -
X-26213125-C-T MAGEB6 c.1162C>T p.Pro388Ser Missense 2/2 -
X-49846497-G-T CLCN5 c.716G>T p.Arg239Leu Missense 6/12 -
19-9237554-G-A OR7G3 c.73C>T p.Pro25Ser Missense 1/1 -
21-46117795-C-T TSPEAR c.82+13553G>A - IntronicSNV - 1/11
10-27688101-G-A PTCHD3 c.1426C>T p.Arg476* Nonsense 4/4 -
17-11583192-C-T DNAH9 c.3472C>T p.Arg1158Trp Missense 18/69 -
7-43917947-A-G URGCP c.986T>C p.Leu329Ser Missense 6/6 -
17-11583192-C-A DNAH9 c.3472C>A p.Arg1158Arg Synonymous 18/69 -
8-28016089-G-A ELP3 c.1196G>A p.Arg399Gln Missense 12/15 -
12-69140450-A-C SLC35E3 c.293A>C p.Asn98Thr Missense 1/5 -
16-15188066-G-A RRN3 c.25C>T p.Arg9Cys Missense 1/18 -
X-149826453-A-G MTM1 c.1213A>G p.Ile405Val Missense 11/15 -
2-101183019-C-T PDCL3 c.61C>T p.Pro21Ser Missense 2/6 -
20-35441225-G-A SOGA1 c.1625C>T p.Pro542Leu Missense 6/15 -
20-35441225-G-C SOGA1 c.1625C>G p.Pro542Arg Missense 6/15 -
12-19518974-G-A PLEKHA5 c.3187G>A p.Glu1063Lys Missense 24/26 -
7-99032529-G-A PTCD1 c.337C>T p.Arg113Trp Missense 2/8 -
15-44067985-A-G ELL3 c.418T>C p.Trp140Arg Missense 4/11 -
19-3179742-G-A S1PR4 c.952G>A p.Val318Met Missense 1/1 -
16-27789939-C-T KIAA0556 c.4846C>T p.Arg1616Trp Missense 28/28 -
10-91497409-G-T KIF20B c.2691G>T p.Gln897His Missense 20/33 -
10-91497409-G-C KIF20B c.2691G>C p.Gln897His Missense 20/33 -
15-75043539-C-T CYP1A2 c.841C>T p.Arg281Trp Missense 3/7 -
5-134344570-C-T CATSPER3 c.715C>T p.Arg239Trp Missense 5/8 -
11-5068437-C-T OR52J3 c.682C>T p.Arg228Cys Missense 1/1 -
1-186277099-G-A PRG4 c.2248G>A p.Ala750Thr Missense 7/13 -
4-69978184-G-T UGT2B7 c.1320G>T p.Glu440Asp Missense 6/6 -
3-195507721-A-G MUC4 c.10730T>C p.Val3577Ala Missense 2/25 -
3-130290069-C-A COL6A6 c.2809C>A p.Arg937Arg Synonymous 6/36 -
11-134073605-C-G NCAPD3 c.1412G>C p.Cys471Ser Missense 11/35 -
18-8784734-C-A MTCL1 c.1624C>A p.Pro542Thr Missense 6/17 -
18-8784734-C-T MTCL1 c.1624C>T p.Pro542Ser Missense 6/17 -
3-195515194-G-C MUC4 c.3257C>G p.Thr1086Ser Missense 2/25 -
19-757515-A-C MISP c.569A>C p.Gln190Pro Missense 2/5 -
7-94058641-A-C COL1A2 c.3853A>C p.Asn1285His Missense 51/52 -
11-48346946-T-C OR4C3 c.373T>C - missense_variant 1/1 -
3-188327445-G-A LPP c.926G>A p.Gly309Asp Missense 6/11 -
12-31815202-G-A ETFBKMT c.314+1G>A - IntronicSNV - 2/3
15-56726449-C-G MNS1 c.1156G>C p.Asp386His Missense 8/10 -
2-239160264-A-G PER2 c.3250T>C p.Cys1084Arg Missense 20/23 -
11-58207494-A-C OR5B12 c.131T>G p.Ile44Ser Missense 1/1 -
11-58207494-A-G OR5B12 c.131T>C p.Ile44Thr Missense 1/1 -
9-19786020-A-C SLC24A2 c.845T>G p.Phe282Cys Missense 1/10 -
4-184129142-G-A WWC2 c.278G>A p.Arg93Lys Missense 3/23 -
16-3432992-G-A ZSCAN32 c.1318C>T p.Arg440* Nonsense 6/6 -
19-50017538-G-A FCGRT c.396G>A p.Lys132Lys Synonymous 4/7 -
18-44635148-G-C HDHD2 c.685C>G p.Arg229Gly Missense 7/7 -
18-44635148-G-A HDHD2 c.685C>T p.Arg229* Nonsense 7/7 -
18-44635148-G-T HDHD2 c.685C>A p.Arg229Arg Synonymous 7/7 -
19-15807728-G-T CYP4F12 c.1408G>T p.Gly470Trp Missense 13/13 -
19-16890270-C-T NWD1 c.2725C>T p.His909Tyr Missense 12/19 -
19-16890270-C-A NWD1 c.2725C>A p.His909Asn Missense 12/19 -
15-75641449-C-T NEIL1 c.203C>T p.Pro68Leu Missense 2/10 -
15-75641449-C-A NEIL1 c.203C>A p.Pro68His Missense 2/10 -
15-28518046-G-A HERC2 c.905C>T p.Thr302Met Missense 8/93 -
15-28518046-G-C HERC2 c.905C>G p.Thr302Arg Missense 8/93 -
15-28518046-G-T HERC2 c.905C>A p.Thr302Lys Missense 8/93 -
13-76423398-A-T LMO7 c.3488A>T p.Glu1163Val Missense 26/30 -
21-47848354-C-T PCNT c.7540C>T p.Arg2514Trp Missense 35/47 -
10-74882044-T-G NUDT13 c.335T>G p.Leu112Arg Missense 4/9 -
17-15642057-G-T TBC1D26 c.410G>T p.Arg137Met Missense 8/15 -
5-33998931-A-G AMACR c.554T>C p.Val185Ala Missense 4/5 -
16-840628-T-C CHTF18 c.856T>C p.Phe286Leu Missense 7/22 -
6-155450378-G-C TIAM2 c.21G>C p.Gln7His Missense 3/26 -
18-28654750-G-A DSC2 c.1787C>T p.Ala596Val Missense 12/17 -
18-28654750-G-C DSC2 c.1787C>G p.Ala596Gly Missense 12/17 -
16-3716025-A-T TRAP1 c.1330T>A p.Tyr444Asn Missense 12/18 -
1-9932101-C-A CTNNBIP1 c.22G>T p.Gly8Trp Missense 4/6 -
1-9932101-C-T CTNNBIP1 c.22G>A p.Gly8Arg Missense 4/6 -
7-84727155-A-G SEMA3D c.278T>C p.Leu93Pro Missense 2/17 -
X-48117260-A-G SSX1 c.149A>G p.Tyr50Cys Missense 3/8 -
1-206230844-T-C AVPR1B c.977T>C p.Leu326Ser Missense 2/2 -
4-4228243-G-A OTOP1 c.349C>T p.His117Tyr Missense 1/6 -
7-84727155-A-T SEMA3D c.278T>A p.Leu93His Missense 2/17 -
1-153752324-C-G SLC27A3 c.1898C>G - missense_variant 10/10 -
10-16528468-C-T PTER c.550C>T p.Leu184Phe Missense 4/6 -
2-218953991-T-C RUFY4 c.1519T>C p.Trp507Arg Missense 12/13 -
14-105414884-C-T AHNAK2 c.6904G>A p.Gly2302Arg Missense 7/7 -
11-85622346-T-G CCDC83 c.695T>G p.Val232Gly Missense 8/12 -
7-150732675-G-A ABCB8 c.773G>A p.Arg258Gln Missense 6/16 -
2-203155896-A-G NOP58 c.683A>G p.Glu228Gly Missense 8/15 -
4-140811893-C-T MAML3 c.697G>A p.Gly233Arg Missense 2/5 -
2-203155896-A-C NOP58 c.683A>C p.Glu228Ala Missense 8/15 -
19-50367485-T-C PNKP c.587A>G p.Tyr196Cys Missense 6/17 -
1-53930362-C-G DMRTB1 c.803C>G p.Pro268Arg Missense 3/4 -
12-57431355-T-A MYO1A c.2032A>T p.Ile678Phe Missense 19/28 -
19-757515-A-G MISP c.569A>G p.Gln190Arg Missense 2/5 -
2-234638269-C-A UGT1A4 c.867+9936C>A - IntronicSNV - 1/4
1-53930362-C-T DMRTB1 c.803C>T p.Pro268Leu Missense 3/4 -
2-74689078-C-T MOGS c.1838G>A p.Arg613Gln Missense 4/4 -
7-138333819-C-A SVOPL c.142G>T p.Gly48Trp Missense 4/12 -
11-55322818-G-A OR4C15 c.874G>A - missense_variant 1/1 -
20-1546802-C-G SIRPB1 c.1196G>C - Missense 5/6 -
1-145704302-G-T CD160 c.115C>A p.Arg39Arg Synonymous 4/6 -
1-145704302-G-A CD160 c.115C>T p.Arg39* Nonsense 4/6 -
11-1028379-C-T MUC6 c.1600G>A p.Gly534Ser Missense 14/33 -
3-195506339-T-C MUC4 c.12112A>G p.Thr4038Ala Missense 2/25 -
3-195506339-T-A MUC4 c.12112A>T p.Thr4038Ser Missense 2/25 -
3-195506339-T-G MUC4 c.12112A>C p.Thr4038Pro Missense 2/25 -
9-115759539-G-C ZNF883 c.1001C>G p.Ser334* Nonsense 5/5 -
7-149558336-C-T ZNF862 c.2087C>T p.Thr696Met Missense 7/8 -
8-39468204-C-T ADAM18 c.501C>T p.Tyr167Tyr Synonymous 6/20 -
8-39468204-C-G ADAM18 c.501C>G p.Tyr167* Nonsense 6/20 -
7-134346707-G-T BPGM c.448G>T p.Asp150Tyr Missense 2/3 -
9-104152782-A-G MRPL50 c.443T>C p.Leu148Pro Missense 2/2 -
19-53268995-C-G ZNF600 c.2014G>C p.Asp672His Missense 3/3 -
5-224611-C-T SDHA c.287C>T p.Thr96Ile Missense 3/15 -
6-152651599-G-A SYNE1 c.14221C>T p.Arg4741Cys Missense 78/146 -
16-56870627-A-G NUP93 c.1897A>G p.Lys633Glu Missense 17/22 -
16-56870627-A-C NUP93 c.1897A>C p.Lys633Gln Missense 17/22 -
19-39233106-C-T CAPN12 c.370G>A p.Val124Met Missense 3/21 -
20-2577902-G-C TMC2 c.1182G>C p.Glu394Asp Missense 10/20 -
16-49430501-C-A C16orf78 c.562C>A p.Arg188Ser Missense 4/5 -
16-49430501-C-T C16orf78 c.562C>T p.Arg188Cys Missense 4/5 -
3-14157941-G-C CHCHD4 c.145C>G p.Pro49Ala Missense 3/4 -
2-136537941-C-A UBXN4 c.1374C>A p.Ser458Arg Missense 12/13 -
2-54870254-C-A SPTBN1 c.3993C>A p.Asp1331Glu Missense 19/36 -
2-141777554-C-T LRP1B c.1907G>A p.Arg636Gln Missense 12/91 -
3-9798475-G-T OGG1 c.923G>T p.Gly308Val Missense 6/7 -
3-9798475-G-A OGG1 c.923G>A p.Gly308Glu Missense 6/7 -
17-5086198-G-A ZNF594 c.1354C>T p.Arg452Cys Missense 2/2 -
2-132021463-C-G POTEE c.2435C>G p.Pro812Arg Missense 15/15 -
2-132021463-C-T POTEE c.2435C>T p.Pro812Leu Missense 15/15 -
6-32557419-C-G HLA-DRB1 c.100+1G>C - IntronicSNV - 1/5
6-32557419-C-T HLA-DRB1 c.100+1G>A - IntronicSNV - 1/5
2-238233459-T-C COL6A3 c.9494-2A>G - IntronicSNV - 43/43
13-22070236-T-A MICU2 c.997A>T p.Ile333Phe Missense 10/12 -
13-22070236-T-C MICU2 c.997A>G p.Ile333Val Missense 10/12 -
3-186572026-G-A ADIPOQ c.268G>A p.Gly90Ser Missense 3/3 -
17-67217999-G-A ABCA10 c.237C>T p.Tyr79Tyr Synonymous 6/40 -
20-45865120-C-T ZMYND8 c.2668G>A p.Ala890Thr Missense 16/23 -
15-92669446-G-A SLCO3A1 c.1330G>A p.Asp444Asn Missense 6/10 -
7-151932997-C-T KMT2C c.2674G>A p.Gly892Arg Missense 16/59 -
2-160994293-C-T ITGB6 c.1312G>A p.Val438Met Missense 10/15 -
22-17586757-T-C IL17RA c.958T>C p.Trp320Arg Missense 11/13 -
22-32109581-G-A PRR14L c.4244C>T p.Ser1415Leu Missense 4/9 -
16-88951594-C-G CBFA2T3 c.977G>C p.Arg326Pro Missense 7/12 -
11-124761326-C-A ROBO4 c.1817G>T p.Arg606Leu Missense 12/18 -
11-124761326-C-T ROBO4 c.1817G>A p.Arg606His Missense 12/18 -
18-32844197-G-C ZSCAN30 c.120C>G p.Asn40Lys Missense 2/4 -
18-32844197-G-A ZSCAN30 c.120C>T p.Asn40Asn Synonymous 2/4 -
3-195515026-G-T MUC4 c.3425C>A p.Thr1142Asn Missense 2/25 -
5-13794053-C-T DNAH5 c.8002G>A p.Gly2668Arg Missense 48/79 -
12-113645566-G-C IQCD c.406C>G p.Leu136Val Missense 2/3 -
20-17596582-C-T RRBP1 c.2641G>A p.Glu881Lys Missense 23/26 -
15-25925284-C-T ATP10A c.3850G>A p.Ala1284Thr Missense 20/21 -
3-27439742-T-C SLC4A7 c.2503A>G p.Thr835Ala Missense 17/25 -
5-140627196-G-T PCDHB15 c.2050G>T p.Asp684Tyr Missense 1/1 -
20-17596582-C-G RRBP1 c.2641G>C p.Glu881Gln Missense 23/26 -
2-179472319-C-A TTN c.45392G>T p.Arg15131Leu Missense 226/312 -
19-45815163-G-A CKM c.497C>T p.Thr166Met Missense 5/8 -
1-43647421-A-G CFAP57 c.374A>G p.Gln125Arg Missense 3/11 -
14-60616886-C-A DHRS7 c.653G>T p.Arg218Leu Missense 5/7 -
4-15572058-T-C CC2D2A c.3533T>C p.Ile1178Thr Missense 29/38 -
10-51584910-G-A NCOA4 c.1009G>A p.Val337Met Missense 8/10 -
12-125453089-G-C DHX37 c.1399C>G p.Leu467Val Missense 10/27 -
19-12429782-G-C ZNF563 c.1057C>G p.Arg353Gly Missense 4/4 -
10-49968432-G-A WDFY4 c.2500G>A p.Val834Met Missense 13/62 -
19-3736189-G-A TJP3 c.1154G>A p.Arg385His Missense 11/21 -
11-1264292-C-T MUC5B c.6182C>T p.Ala2061Val Missense 31/49 -
11-1264292-C-G MUC5B c.6182C>G p.Ala2061Gly Missense 31/49 -
15-76633599-T-A ISL2 c.920T>A p.Phe307Tyr Missense 5/6 -
17-61995725-A-T GH1 c.152T>A p.Phe51Tyr Missense 2/5 -
2-25966027-T-C ASXL2 c.3179A>G p.Lys1060Arg Missense 13/13 -
12-48185724-G-C HDAC7 c.1631C>G p.Pro544Arg Missense 13/25 -
12-48185724-G-A HDAC7 c.1631C>T p.Pro544Leu Missense 13/25 -
11-5878609-G-C OR52E8 c.324C>G p.Phe108Leu Missense 1/1 -
13-92345845-T-G GPC5 c.730T>G p.Phe244Val Missense 3/8 -
19-9449242-T-A ZNF559-ZNF177 c.-407T>A - 5_prime_UTR_variant 3/12 -
20-2591122-G-T TMC2 c.1471G>T p.Ala491Ser Missense 12/20 -
20-2591122-G-A TMC2 c.1471G>A p.Ala491Thr Missense 12/20 -
12-6497581-G-T LTBR c.628G>T p.Ala210Ser Missense 7/10 -
12-122277904-G-C HPD c.1005C>G p.Ile335Met Missense 13/14 -
17-61571309-A-C ACE c.3163A>C p.Met1055Leu Missense 21/25 -
3-110841054-A-C NECTIN3 c.886A>C p.Asn296His Missense 4/6 -
14-56139677-G-A KTN1 c.3634G>A p.Glu1212Lys Missense 39/44 -
3-110841054-A-G NECTIN3 c.886A>G p.Asn296Asp Missense 4/6 -
17-73567097-C-T LLGL2 c.2092C>T p.Arg698Cys Missense 17/25 -
11-65629481-C-G MUS81 c.415C>G p.Arg139Gly Missense 4/16 -
1-151315018-G-A RFX5 c.1495C>T p.Pro499Ser Missense 11/11 -
4-25834624-C-T SEL1L3 c.1091G>A p.Gly364Glu Missense 5/24 -
16-31418867-C-G ITGAD c.736C>G p.Arg246Gly Missense 8/30 -
16-31418867-C-T ITGAD c.736C>T p.Arg246* Nonsense 8/30 -
12-124496961-C-T ZNF664 c.270C>T p.Tyr90Tyr Synonymous 5/5 -
12-52284448-G-A ANKRD33 c.718G>A p.Val240Met Missense 5/5 -
17-27958172-G-A SSH2 c.3959C>T p.Thr1320Ile Missense 15/15 -
1-155255014-G-A HCN3 c.1148G>A p.Arg383His Missense 5/8 -
15-90278755-G-A WDR93 c.1579G>A p.Val527Met Missense 14/17 -
4-3109101-C-T HTT c.698C>T p.Pro233Leu Missense 6/67 -
14-65235830-C-T SPTB c.5944G>A p.Glu1982Lys Missense 28/35 -
20-39992343-G-T EMILIN3 c.449C>A p.Pro150His Missense 3/4 -
10-96534863-C-T CYP2C19 c.217C>T p.Arg73Cys Missense 2/9 -
2-168102971-C-T XIRP2 c.5069C>T p.Thr1690Ile Missense 9/11 -
17-39324333-T-A KRTAP4-3 c.92A>T p.Gln31Leu Missense 1/1 -
17-39324333-T-C KRTAP4-3 c.92A>G p.Gln31Arg Missense 1/1 -
8-133015528-A-G EFR3A c.2356A>G p.Ile786Val Missense 22/23 -
6-32497905-G-A HLA-DRB5 c.97C>T p.Arg33* Nonsense 1/6 -
6-32497905-G-T HLA-DRB5 c.97C>A p.Arg33Arg Synonymous 1/6 -
11-3681156-G-A ART1 c.407G>A p.Arg136His Missense 3/5 -
19-57066576-A-T ZFP28 c.2422A>T p.Thr808Ser Missense 8/8 -
11-101832689-A-G CEP126 c.923A>G p.His308Arg Missense 6/11 -
11-101832689-A-T CEP126 c.923A>T p.His308Leu Missense 6/11 -
19-19162534-G-A ARMC6 c.308G>A p.Arg103His Missense 4/8 -
4-122682720-C-T TMEM155 c.185G>A p.Arg62His Missense 5/6 -
17-78221955-A-T SLC26A11 c.1321A>T p.Thr441Ser Missense 14/18 -
5-176765576-C-T LMAN2 c.346G>A p.Val116Ile Missense 3/8 -
14-92268615-T-G TC2N c.452A>C p.Lys151Thr Missense 4/12 -
14-92268615-T-A TC2N c.452A>T p.Lys151Met Missense 4/12 -
11-1267049-C-T MUC5B c.8939C>T p.Thr2980Met Missense 31/49 -
10-47087502-G-T NPY4R c.719G>T p.Arg240Leu Missense 3/3 -
21-47404305-T-C COL6A1 c.350T>C p.Val117Ala Missense 3/35 -
1-31897692-C-T SERINC2 c.376C>T p.Arg126Trp Missense 3/10 -
2-238280808-G-T COL6A3 c.3852C>A p.Phe1284Leu Missense 9/44 -
17-76528569-C-G DNAH17 c.3109G>C p.Glu1037Gln Missense 20/81 -
3-195512117-C-G MUC4 c.6334G>C p.Ala2112Pro Missense 2/25 -
5-140764394-T-G PCDHGA1 c.2421+51722T>G - IntronicSNV - 1/3
4-69692209-C-A UGT2B10 c.1081C>A p.Leu361Ile Missense 4/6 -
4-69692209-C-T UGT2B10 c.1081C>T p.Leu361Phe Missense 4/6 -
11-124766561-G-A ROBO4 c.406C>T p.Arg136Trp Missense 3/18 -
18-51904603-C-A C18orf54 c.1106C>A p.Ser369* Nonsense 8/8 -
19-44896570-C-T ZNF285 c.76G>A p.Asp26Asn Missense 3/4 -
8-133844543-G-A PHF20L1 c.1808G>A p.Arg603Gln Missense 15/21 -
2-216251538-G-A FN1 c.4213C>T p.Arg1405Trp Missense 27/44 -
19-43414833-T-C PSG6 c.605A>G p.Tyr202Cys Missense 3/6 -
4-74350100-A-T AFM c.263A>T p.Lys88Ile Missense 3/15 -
X-106109125-C-A TBC1D8B c.2524C>A p.Gln842Lys Missense 16/21 -
17-73838602-C-T UNC13D c.481G>A p.Val161Met Missense 6/32 -
18-61647120-T-G SERPINB8 c.254T>G p.Leu85Trp Missense 3/7 -
1-241767722-C-G OPN3 c.533G>C p.Arg178Thr Missense 2/4 -
1-93160880-A-G EVI5 c.1028T>C p.Ile343Thr Missense 7/18 -
22-39222627-G-A NPTXR c.976C>T p.Arg326Trp Missense 3/5 -
13-24995411-T-A PARP4 c.5021A>T p.Glu1674Val Missense 34/34 -
11-5364030-T-G OR51B5 c.725A>C p.His242Pro Missense 5/5 -
16-88752796-C-T SNAI3 c.19G>A p.Val7Met Missense 1/3 -
4-110618790-T-C CASP6 c.218A>G p.Asn73Ser Missense 3/7 -
9-136330532-C-T CACFD1 c.283C>T p.Arg95Trp Missense 3/5 -
13-73317743-GAGT-GAGTGAGT BORA c.454+3_454+6dup - IntronicInsertion - -
4-69512863-G-T UGT2B15 c.1552C>A p.Arg518Arg Synonymous 6/6 -
3-151161572-G-A IGSF10 c.5163C>T p.Tyr1721Tyr Synonymous 5/6 -
21-46012035-C-T TSPEAR c.83-24146G>A - IntronicSNV - 1/11
22-50943506-C-T LMF2 c.1234G>A p.Ala412Thr Missense 9/14 -
17-74073094-G-T GALR2 c.746G>T p.Trp249Leu Missense 2/2 -
11-129991670-G-T APLP2 c.678G>T p.Glu226Asp Missense 5/18 -
8-144994565-C-T PLEC c.9505G>A p.Gly3169Ser Missense 33/33 -
16-10775949-T-C TEKT5 c.764A>G p.Asp255Gly Missense 4/7 -
12-113629440-A-C RITA1 c.628A>C p.Thr210Pro Missense 4/4 -
7-151932945-C-T KMT2C c.2726G>A p.Arg909Lys Missense 16/59 -
16-28734483-A-G EIF3C c.777-2A>G - IntronicSNV - 8/20
11-56510879-G-A OR9G4 c.409C>T p.Arg137Cys Missense 1/1 -
8-87641188-C-T CNGB3 c.1439G>A p.Arg480Gln Missense 12/18 -
19-46733560-T-G IGFL1 c.109T>G p.Cys37Gly Missense 3/4 -
14-60616886-C-T DHRS7 c.653G>A p.Arg218Gln Missense 5/7 -
X-65824281-G-A EDA2R c.334C>T p.Pro112Ser Missense 4/7 -
X-65824281-G-C EDA2R c.334C>G p.Pro112Ala Missense 4/7 -
2-131266379-G-A POTEI c.430C>T p.His144Tyr Missense 1/15 -
17-3324393-T-G OR3A3 c.532T>G p.Cys178Gly Missense 1/1 -
1-160136372-A-G ATP1A4 c.1102A>G p.Asn368Asp Missense 8/22 -
16-56508797-C-T OGFOD1 c.1343C>T p.Thr448Ile Missense 11/13 -
14-19377881-G-A OR11H12 c.288G>A p.Met96Ile Missense 1/1 -
3-49831032-A-G CDHR4 c.1607T>C p.Ile536Thr Missense 12/19 -
7-5940136-T-C CCZ1 c.251T>C p.Leu84Ser Missense 3/15 -
9-131763938-G-A NUP188 c.3974G>A p.Arg1325His Missense 35/44 -
9-131763938-G-C NUP188 c.3974G>C p.Arg1325Pro Missense 35/44 -
3-195512117-C-A MUC4 c.6334G>T p.Ala2112Ser Missense 2/25 -
3-195512117-C-T MUC4 c.6334G>A p.Ala2112Thr Missense 2/25 -
16-14028081-C-T ERCC4 c.1135C>T p.Pro379Ser Missense 7/11 -
19-41633853-C-G CYP2F1 c.1342C>G p.Leu448Val Missense 10/10 -
2-48808125-G-T STON1-GTF2A1L c.353G>T p.Gly118Val Missense 2/11 -
4-110618790-T-G CASP6 c.218A>C p.Asn73Thr Missense 3/7 -
6-31324039-C-G HLA-B c.524G>C p.Arg175Pro Missense 3/8 -
6-31324039-C-T HLA-B c.524G>A p.Arg175His Missense 3/8 -
1-173594022-C-T ANKRD45 c.634G>A p.Glu212Lys Missense 5/6 -
12-124387642-C-T DNAH10 c.9443C>T p.Ser3148Leu Missense 56/78 -
12-124387642-C-G DNAH10 c.9443C>G p.Ser3148Trp Missense 56/78 -
17-15222418-A-G TEKT3 c.710T>C p.Leu237Ser Missense 5/9 -
17-39254126-C-T KRTAP4-8 c.211G>A p.Val71Met Missense 1/1 -
12-57572747-G-T LRP1 c.4681G>T p.Val1561Leu Missense 28/89 -
5-150942985-G-A FAT2 c.3475C>T p.Leu1159Leu Synonymous 2/23 -
5-150942985-G-T FAT2 c.3475C>A p.Leu1159Met Missense 2/23 -
5-41186186-T-G C6 c.712A>C p.Asn238His Missense 6/18 -
19-1993101-G-A BTBD2 c.602C>T p.Ala201Val Missense 3/9 -
12-57572747-G-A LRP1 c.4681G>A p.Val1561Met Missense 28/89 -
13-20038622-G-A TPTE2 c.715C>T p.Gln239* Nonsense 11/21 -
10-46121886-C-T ZFAND4 c.1385G>A p.Arg462Gln Missense 7/10 -
12-54902264-G-A NCKAP1L c.455G>A p.Arg152Gln Missense 5/31 -
11-76371946-C-T LRRC32 c.691G>A p.Glu231Lys Missense 3/3 -
18-712518-C-T ENOSF1 c.70G>A p.Gly24Ser Missense 1/16 -
1-104093571-T-C RNPC3 c.1370T>C p.Ile457Thr Missense 13/15 -
10-54074798-G-T DKK1 c.359G>T p.Arg120Leu Missense 2/4 -
1-152275876-C-T FLG c.11486G>A p.Arg3829His Missense 3/3 -
19-9524098-G-C ZNF266 c.1503C>G p.Phe501Leu Missense 11/11 -
10-124712465-C-A C10orf88 c.248G>T p.Gly83Val Missense 2/6 -
11-65790511-C-A CATSPER1 c.1238G>T p.Arg413Leu Missense 2/12 -
12-53045610-C-T KRT2 c.317G>A p.Ser106Asn Missense 1/9 -
11-5364030-T-C OR51B5 c.725A>G p.His242Arg Missense 5/5 -
17-10212612-C-T MYH13 c.5108G>A p.Arg1703His Missense 35/41 -
5-140431579-A-G PCDHB1 c.524A>G p.Asn175Ser Missense 1/1 -
19-1818839-G-A REXO1 c.2768C>T p.Ala923Val Missense 9/16 -
9-117044596-C-T COL27A1 c.3757C>T p.Arg1253Cys Missense 38/61 -
4-25671384-A-G SLC34A2 c.751A>G p.Ser251Gly Missense 7/13 -
1-235922671-T-G LYST c.6482A>C p.Glu2161Ala Missense 23/53 -
19-10468778-G-A TYK2 c.2212C>T p.Arg738Trp Missense 16/25 -
19-10468778-G-C TYK2 c.2212C>G p.Arg738Gly Missense 16/25 -
5-118850709-G-A HSD17B4 c.1471G>A p.Ala491Thr Missense 17/24 -
9-33385698-A-G AQP7 c.692T>C p.Leu231Pro Missense 7/8 -
14-105418381-G-T AHNAK2 c.3407C>A p.Pro1136Gln Missense 7/7 -
19-8161825-C-T FBN3 c.5353G>A p.Gly1785Ser Missense 43/64 -
9-33466372-G-T NOL6 c.2143C>A p.Arg715Arg Synonymous 17/26 -
8-71646361-T-G XKR9 c.824T>G p.Phe275Cys Missense 5/5 -
8-71646361-T-C XKR9 c.824T>C p.Phe275Ser Missense 5/5 -
21-47423649-A-G COL6A1 c.2809A>G p.Lys937Glu Missense 35/35 -
10-27306447-A-T ANKRD26 c.4487T>A p.Val1496Asp Missense 30/34 -
9-33466372-G-A NOL6 c.2143C>T p.Arg715Trp Missense 17/26 -
3-123426842-C-T MYLK c.2149G>A p.Asp717Asn Missense 16/34 -
1-170961360-G-A MROH9 c.1084G>A p.Val362Met Missense 12/15 -
1-170961360-G-T MROH9 c.1084G>T p.Val362Leu Missense 12/15 -
6-138753437-C-T NHSL1 c.2057G>A p.Arg686His Missense 5/7 -
20-32295716-C-G PXMP4 c.435G>C p.Lys145Asn Missense 4/4 -
8-52321966-G-A PXDNL c.2218C>T p.Pro740Ser Missense 17/23 -
11-56058199-G-A OR8H1 c.340C>T p.Leu114Phe Missense 1/1 -
11-308397-A-T IFITM2 c.205A>T p.Thr69Ser Missense 1/2 -
1-248616418-C-T OR2T2 c.320C>T p.Thr107Ile Missense 1/1 -
6-109796653-G-A ZBTB24 c.1237C>T p.Arg413Cys Missense 5/7 -
5-173416324-C-T C5orf47 c.58C>T p.Arg20Cys Missense 1/5 -
5-140773719-G-A PCDHGB4 c.2397+3871G>A - IntronicSNV - 1/3
19-1792135-C-G ATP8B3 c.2056-1G>C - IntronicSNV - 18/28
13-23915523-T-C SACS c.2492A>G p.Glu831Gly Missense 10/10 -
5-147481363-G-A SPINK5 c.1322G>A p.Arg441His Missense 15/34 -
1-160144384-G-A ATP1A4 c.2158G>A p.Val720Met Missense 15/22 -
4-187118692-G-A CYP4V2 c.610G>A p.Ala204Thr Missense 5/11 -
17-10296261-G-T MYH8 c.5350C>A p.Arg1784Arg Synonymous 37/40 -
17-10296261-G-C MYH8 c.5350C>G p.Arg1784Gly Missense 37/40 -
17-10296261-G-A MYH8 c.5350C>T p.Arg1784Trp Missense 37/40 -
5-94782320-G-A FAM81B c.948G>A p.Trp316* Nonsense 8/10 -
21-45846577-C-T TRPM2 c.3830C>T p.Thr1277Met Missense 26/32 -
1-41540902-G-A SCMH1 c.937C>T p.Pro313Ser Missense 9/16 -
6-26199324-C-G HIST1H3D c.-257G>C - 5_prime_UTR_variant 1/2 -
6-26199324-C-A HIST1H3D c.-257G>T - 5_prime_UTR_variant 1/2 -
1-55317935-C-T DHCR24 c.1522G>A p.Asp508Asn Missense 9/9 -
2-218953991-T-G RUFY4 c.1519T>G p.Trp507Gly Missense 12/13 -
15-31352749-G-T TRPM1 c.1195C>A p.Pro399Thr Missense 10/27 -
15-42149449-G-T SPTBN5 c.8608C>A p.Arg2870Arg Synonymous 51/68 -
15-42149449-G-A SPTBN5 c.8608C>T p.Arg2870Trp Missense 51/68 -
5-476737-C-T SLC9A3 c.1811G>A p.Arg604Gln Missense 12/17 -
19-53994634-A-T ZNF813 c.1148A>T p.Tyr383Phe Missense 4/4 -
1-45810774-C-T TESK2 c.1454G>A p.Arg485His Missense 11/11 -
3-37367989-A-G GOLGA4 c.4612A>G p.Thr1538Ala Missense 14/24 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
1-155228742-C-T SCAMP3 c.392G>A p.Arg131Gln Missense 5/9 -
1-155228742-C-G SCAMP3 c.392G>C p.Arg131Pro Missense 5/9 -
19-50902196-C-T POLD1 c.88C>T p.Arg30Trp Missense 2/27 -
1-171605478-G-A MYOC c.1102C>T p.Gln368* Nonsense 3/3 -
14-68229060-C-T ZFYVE26 c.6229G>A p.Gly2077Arg Missense 34/42 -
2-109276221-G-T LIMS1 c.156+1G>T - IntronicSNV - 2/9
3-4704816-G-A ITPR1 c.1435G>A p.Val479Ile Missense 15/58 -
16-67237746-A-G ELMO3 c.2129A>G - missense_variant 20/20 -
14-20528558-G-A OR4L1 c.355G>A p.Ala119Thr Missense 1/1 -
1-152275876-C-A FLG c.11486G>T p.Arg3829Leu Missense 3/3 -
16-27692833-C-T KIAA0556 c.922C>T p.Gln308* Nonsense 8/28 -
5-137426569-G-A WNT8A c.863G>A p.Arg288His Missense 6/6 -
20-5974291-A-G MCM8 c.2380A>G p.Ile794Val Missense 18/19 -
6-32497986-G-A HLA-DRB5 c.16C>T p.Leu6Phe Missense 1/6 -
16-66788947-G-A TERB1 c.2116C>T p.Arg706Trp Missense 19/19 -
9-133961026-G-A LAMC3 c.4146G>A p.Arg1382Arg Synonymous 25/28 -
10-74645578-T-A MCU c.1054T>A - Missense 8/8 -
10-74645578-T-G MCU c.1054T>G - Missense 8/8 -
15-102358523-T-C OR4F15 c.134T>C p.Ile45Thr Missense 1/1 -
15-102358523-T-A OR4F15 c.134T>A p.Ile45Asn Missense 1/1 -
14-76447073-C-T TGFB3 c.164G>A p.Ser55Asn Missense 1/7 -
14-76447073-C-G TGFB3 c.164G>C p.Ser55Thr Missense 1/7 -
11-60899932-G-A VPS37C c.428C>T p.Ser143Phe Missense 5/5 -
11-60899932-G-C VPS37C c.428C>G p.Ser143Cys Missense 5/5 -
10-46250545-A-G WASHC2C c.1402A>G p.Ser468Gly Missense 15/29 -
2-179448450-G-A TTN c.57755C>T p.Thr19252Ile Missense 261/312 -
1-11766493-C-T DRAXIN c.178C>T p.Arg60Trp Missense 2/7 -
19-38379447-G-A WDR87 c.4747C>T p.Arg1583* Nonsense 6/6 -
16-88951594-C-T CBFA2T3 c.977G>A p.Arg326His Missense 7/12 -
9-133914269-G-C LAMC3 c.995G>C p.Arg332Pro Missense 5/28 -
9-133914269-G-A LAMC3 c.995G>A p.Arg332His Missense 5/28 -
20-62192215-C-T HELZ2 c.7214G>A p.Gly2405Asp Missense 16/20 -
14-23587838-G-T CEBPE c.463C>A p.Leu155Met Missense 1/2 -
16-89836978-G-C FANCA c.2216C>G p.Pro739Arg Missense 24/43 -
16-89836978-G-A FANCA c.2216C>T p.Pro739Leu Missense 24/43 -
1-248652104-T-C OR2T5 c.215T>C p.Leu72Pro Missense 1/1 -
5-72866450-C-T UTP15 c.587C>T p.Thr196Met Missense 6/13 -
8-143958621-C-T CYP11B1 c.413G>A p.Arg138His Missense 3/9 -
3-38167068-C-T ACAA1 c.1187G>A p.Arg396His Missense 11/12 -
20-44469366-A-C SNX21 c.536A>C p.His179Pro Missense 4/4 -
17-47246247-C-T B4GALNT2 c.1480C>T p.Arg494* Nonsense 10/11 -
17-47246247-C-G B4GALNT2 c.1480C>G p.Arg494Gly Missense 10/11 -
1-38148833-C-A C1orf109 c.575-1G>T - IntronicSNV - 4/4
20-33519830-G-A GSS c.941C>T p.Pro314Leu Missense 10/13 -
4-88036358-G-A AFF1 c.2352G>A p.Arg784Arg Synonymous 11/20 -
4-88036358-G-C AFF1 c.2352G>C p.Arg784Ser Missense 11/20 -
17-37985732-G-A IKZF3 c.71C>T p.Ala24Val Missense 3/8 -
20-58342394-C-A PHACTR3 c.695C>A p.Pro232Gln Missense 5/13 -
20-58342394-C-T PHACTR3 c.695C>T p.Pro232Leu Missense 5/13 -
5-73181764-G-A ARHGEF28 c.3145G>A p.Glu1049Lys Missense 25/37 -
12-133363374-C-T GOLGA3 c.2812-1G>A - IntronicSNV - 13/23
4-152499143-G-A FAM160A1 c.647G>A p.Arg216Gln Missense 5/14 -
16-3139999-G-C ZSCAN10 c.1436C>G - missense_variant 6/6 -
6-32944128-C-T BRD2 c.712C>T p.Leu238Phe Missense 6/13 -
3-179051330-G-A ZNF639 c.578G>A p.Trp193* Nonsense 7/7 -
1-156897591-G-T LRRC71 c.889G>T p.Ala297Ser Missense 8/15 -
1-114380656-G-C PTPN22 c.1366C>G p.Gln456Glu Missense 13/21 -
1-114380656-G-T PTPN22 c.1366C>A p.Gln456Lys Missense 13/21 -
9-36170475-G-T CCIN c.976G>T p.Gly326Cys Missense 1/1 -
22-42956273-T-A SERHL2 c.613+2T>A - IntronicSNV - 8/11
11-108175463-A-T ATM c.5558A>T p.Asp1853Val Missense 37/63 -
2-50724817-G-A NRXN1 c.2653C>T p.His885Tyr Missense 15/24 -
3-130290069-C-T COL6A6 c.2809C>T p.Arg937Trp Missense 6/36 -
1-104162275-G-A AMY2A c.613G>A p.Gly205Ser Missense 4/10 -
19-13084333-G-A DAND5 c.455G>A p.Arg152His Missense 2/2 -
11-105923578-C-A KBTBD3 c.1838G>T - Missense 3/3 -
11-85396271-C-A CCDC89 c.903G>T p.Glu301Asp Missense 1/1 -
11-85396271-C-T CCDC89 c.903G>A p.Glu301Glu Synonymous 1/1 -
17-10212612-C-A MYH13 c.5108G>T p.Arg1703Leu Missense 35/41 -
12-51739625-C-A CELA1 c.53G>T p.Arg18Leu Missense 2/8 -
12-51739625-C-T CELA1 c.53G>A p.Arg18His Missense 2/8 -
8-124085043-G-T TBC1D31 c.34G>T p.Gly12Cys Missense 1/22 -
16-334999-T-A PDIA2 c.662T>A p.Val221Glu Missense 4/11 -
8-87591433-G-A CNGB3 c.1829C>T p.Ala610Val Missense 16/18 -
7-23871756-A-G STK31 c.2831A>G p.Asp944Gly Missense 24/24 -
7-23871756-A-T STK31 c.2831A>T p.Asp944Val Missense 24/24 -
19-17749893-G-A UNC13A c.3080C>T p.Pro1027Leu Missense 25/44 -
11-59940500-C-T MS4A6A c.736G>A p.Val246Met Missense 7/7 -
10-98825794-C-T SLIT1 c.463G>A p.Gly155Arg Missense 5/37 -
4-85569724-G-A CDS1 c.1271G>A p.Ser424Asn Missense 13/13 -
11-73834139-G-A C2CD3 c.1259C>T p.Ser420Phe Missense 8/31 -
19-12058390-G-A ZNF700 c.251+1G>A - IntronicSNV - 3/3
11-105923578-C-G KBTBD3 c.1838G>C - Missense 3/3 -
16-57448995-C-G CCL17 c.73C>G p.Arg25Gly Missense 3/4 -
3-122351037-C-T PARP15 c.841C>T p.Arg281* Nonsense 6/8 -
16-57448995-C-T CCL17 c.73C>T p.Arg25* Nonsense 3/4 -
19-55329851-A-G KIR3DL1 c.152A>G p.Tyr51Cys Missense 3/9 -
11-33053036-A-G DEPDC7 c.868A>G p.Lys290Glu Missense 5/9 -
10-72358407-C-T PRF1 c.1070G>A p.Arg357Gln Missense 3/3 -
17-62028889-G-C SCN4A c.2748C>G p.Asn916Lys Missense 14/24 -
9-128003302-AG-GC HSPA5 c.103_104delCTinsGC p.Leu35Ala Missense 1/8 -
16-57965773-G-A CNGB1 c.1382C>T p.Thr461Met Missense 17/33 -
3-123426842-C-A MYLK c.2149G>T p.Asp717Tyr Missense 16/34 -
14-76644266-C-A GPATCH2L c.1053-65C>A - IntronicSNV - 6/9
19-38965975-A-G RYR1 c.4178A>G p.Lys1393Arg Missense 29/106 -
18-9887371-C-T TXNDC2 c.694C>T p.Leu232Phe Missense 2/2 -
2-211179702-G-A MYL1 c.65C>T p.Pro22Leu Missense 1/7 -
11-126162666-G-A TIRAP c.362G>A p.Arg121Gln Missense 5/5 -
12-88519133-C-T CEP290 c.1079G>A p.Arg360Gln Missense 13/54 -
12-58200181-G-A AVIL c.1633C>T p.Leu545Leu Synonymous 13/19 -
22-24984261-G-A GGT1 c.-429+4485G>A - intron_variant - 1/15
4-71346707-C-CC MUC7 c.246_246dup p.Lys83Glnfs*10 Frameshift 3/3 -
17-20353421-C-G LGALS9B c.933G>C p.Leu311Phe Missense 11/11 -
15-31318422-C-G TRPM1 c.3483G>C p.Gln1161His Missense 26/27 -
5-140594923-G-T PCDHB13 c.1228G>T p.Asp410Tyr Missense 1/1 -
5-140594923-G-C PCDHB13 c.1228G>C p.Asp410His Missense 1/1 -
5-149495360-G-A PDGFRB c.3287C>T p.Ala1096Val Missense 23/23 -
14-105415666-G-A AHNAK2 c.6122C>T p.Pro2041Leu Missense 7/7 -
11-59940500-C-A MS4A6A c.736G>T p.Val246Leu Missense 7/7 -
22-24225971-G-A SLC2A11 c.1018G>A p.Glu340Lys Missense 10/13 -
22-24225971-G-C SLC2A11 c.1018G>C p.Glu340Gln Missense 10/13 -
4-175899088-G-T ADAM29 c.2412G>T p.Arg804Ser Missense 4/4 -
4-175899088-G-A ADAM29 c.2412G>A p.Arg804Arg Synonymous 4/4 -
4-175899088-G-C ADAM29 c.2412G>C p.Arg804Ser Missense 4/4 -
5-169535155-C-T FOXI1 c.677C>T p.Thr226Ile Missense 2/2 -
16-72057193-C-G DHODH c.949C>G p.Arg317Gly Missense 7/9 -
17-11840674-C-G DNAH9 c.12495C>G p.Ile4165Met Missense 66/69 -
17-11840674-C-T DNAH9 c.12495C>T p.Ile4165Ile Synonymous 66/69 -
2-31564244-A-G XDH c.3536T>C p.Ile1179Thr Missense 33/36 -
7-122821111-C-T SLC13A1 c.144G>A p.Trp48* Nonsense 2/15 -
17-41245027-G-A BRCA1 c.2521C>T p.Arg841Trp Missense 10/23 -
12-80707293-A-G OTOGL c.3461A>G p.Asp1154Gly Missense 30/58 -
8-133844543-G-C PHF20L1 c.1808G>C p.Arg603Pro Missense 15/21 -
19-14827011-G-T ZNF333 c.688G>T p.Asp230Tyr Missense 9/12 -
1-117487607-A-G PTGFRN c.725A>G p.Gln242Arg Missense 3/9 -
6-47846821-G-T PTCHD4 c.1759C>A p.His587Asn Missense 3/3 -
6-47846821-G-C PTCHD4 c.1759C>G p.His587Asp Missense 3/3 -
1-94054750-C-T BCAR3 c.713G>A p.Arg238His Missense 7/14 -
4-71346706-CC-CCCC MUC7 c.245_246dup p.Lys83Profs*24 Frameshift 3/3 -
12-113552714-C-T RASAL1 c.1072G>A p.Val358Met Missense 13/22 -
19-9324678-G-T OR7D4 c.836C>A p.Ala279Asp Missense 1/1 -
19-9324678-G-A OR7D4 c.836C>T p.Ala279Val Missense 1/1 -
1-152275883-C-A FLG c.11479G>T p.Gly3827Trp Missense 3/3 -
2-219492952-C-T PLCD4 c.973C>T p.Arg325Trp Missense 7/16 -
19-54080061-T-C ZNF331 c.247T>C p.Trp83Arg Missense 7/7 -
12-72278749-G-A TBC1D15 c.502G>A p.Gly168Arg Missense 5/18 -
1-53535618-G-A PODN c.235G>A p.Gly79Ser Missense 2/11 -
21-45994237-T-G TSPEAR c.83-6348A>C - IntronicSNV - 1/11
16-49430501-C-G C16orf78 c.562C>G p.Arg188Gly Missense 4/5 -
21-45994237-T-C TSPEAR c.83-6348A>G - IntronicSNV - 1/11
9-131588396-G-A SPOUT1 c.544C>T p.Arg182Cys Missense 7/12 -
7-140374064-G-C ADCK2 c.933+1G>C - IntronicSNV - 1/7
7-134632291-A-G CALD1 c.1565A>G p.Lys522Arg Missense 8/15 -
3-195506974-G-T MUC4 c.11477C>A p.Pro3826His Missense 2/25 -
2-55898486-T-C PNPT1 c.944A>G p.Lys315Arg Missense 11/28 -
3-195506974-G-A MUC4 c.11477C>T p.Pro3826Leu Missense 2/25 -
10-16882375-G-A CUBN c.9986C>T p.Ser3329Leu Missense 62/67 -
9-133787218-G-C FIBCD1 c.907C>G p.Arg303Gly Missense 5/7 -
9-133787218-G-T FIBCD1 c.907C>A p.Arg303Arg Synonymous 5/7 -
6-29911320-G-T HLA-A c.619G>T p.Asp207Tyr Missense 3/8 -
6-29911320-G-A HLA-A c.619G>A p.Asp207Asn Missense 3/8 -
6-29911320-G-C HLA-A c.619G>C p.Asp207His Missense 3/8 -
12-59308052-C-T LRIG3 c.302G>A p.Arg101Gln Missense 2/19 -
10-51585241-A-G NCOA4 c.1340A>G p.Lys447Arg Missense 8/10 -
11-6048408-C-A OR56A1 c.527G>T p.Cys176Phe Missense 1/1 -
11-6048408-C-T OR56A1 c.527G>A p.Cys176Tyr Missense 1/1 -
8-11995276-C-T USP17L2 c.994G>A p.Asp332Asn Missense 1/1 -
1-43773117-C-T TIE1 c.787C>T p.Arg263Cys Missense 6/23 -
18-9255471-A-G ANKRD12 c.2206A>G p.Thr736Ala Missense 9/13 -
20-33581219-C-T MYH7B c.2516C>T p.Ala839Val Missense 26/45 -
11-8947640-C-A C11orf16 c.574G>T p.Glu192* Nonsense 5/7 -
17-78197116-A-G SLC26A11 c.493A>G p.Ile165Val Missense 5/18 -
22-44127629-T-G EFCAB6 c.707A>C p.Asn236Thr Missense 8/32 -
21-34625037-C-G IFNAR2 c.611C>G p.Thr204Arg Missense 7/9 -
1-64017419-G-A EFCAB7 c.970G>A p.Val324Ile Missense 8/14 -
21-34625037-C-T IFNAR2 c.611C>T p.Thr204Met Missense 7/9 -
11-65790511-C-T CATSPER1 c.1238G>A p.Arg413His Missense 2/12 -
11-4967540-C-T OR51A4 c.791G>A p.Arg264His Missense 1/1 -
19-58850179-G-A ZSCAN22 c.963G>A p.Ala321Ala Synonymous 3/3 -
20-62199849-G-A HELZ2 c.1592C>T p.Pro531Leu Missense 6/20 -
4-103553381-C-A MANBA c.2473G>T p.Ala825Ser Missense 17/17 -
4-103553381-C-T MANBA c.2473G>A p.Ala825Thr Missense 17/17 -
4-184129142-G-T WWC2 c.278G>T p.Arg93Met Missense 3/23 -
19-43420408-G-C PSG6 c.296C>G p.Thr99Arg Missense 2/6 -
3-151161572-G-C IGSF10 c.5163C>G p.Tyr1721* Nonsense 5/6 -
1-28206250-T-C THEMIS2 c.331T>C p.Phe111Leu Missense 3/5 -
7-107621253-A-G LAMB1 c.680T>C p.Leu227Ser Missense 8/34 -
16-67236109-A-C ELMO3 c.1183A>C - missense_variant 13/20 -
8-71646361-T-A XKR9 c.824T>A p.Phe275Tyr Missense 5/5 -
17-66872845-C-G ABCA8 c.4080-1G>C - IntronicSNV - 31/37
1-152191404-C-G HRNR c.2701G>C p.Gly901Arg Missense 3/3 -
1-152191404-C-T HRNR c.2701G>A p.Gly901Arg Missense 3/3 -
10-68139039-G-T CTNNA3 c.1603C>A p.Arg535Ser Missense 12/18 -
19-33639807-G-A WDR88 c.670G>A p.Val224Ile Missense 5/11 -
10-68139039-G-A CTNNA3 c.1603C>T p.Arg535Cys Missense 12/18 -
21-47423649-A-C COL6A1 c.2809A>C p.Lys937Gln Missense 35/35 -
2-18745214-C-T NT5C1B c.1681G>A p.Glu561Lys Missense 10/10 -
14-20404376-T-G OR4K1 c.551T>G p.Val184Gly Missense 1/1 -
1-21009189-T-C KIF17 c.2420A>G p.Glu807Gly Missense 11/15 -
4-877125-C-T GAK c.1382G>A p.Arg461Gln Missense 13/28 -
5-141334721-G-A PCDH12 c.2696C>T p.Ala899Val Missense 1/4 -
5-138764299-C-T DNAJC18 c.301G>A p.Ala101Thr Missense 3/8 -
19-41622188-C-T CYP2F1 c.95C>T p.Pro32Leu Missense 2/10 -
18-21057228-C-T RIOK3 c.1340C>T p.Ser447Leu Missense 11/13 -
9-139925287-G-A FUT7 c.904C>T p.Arg302Cys Missense 2/2 -
1-26189517-C-T PAQR7 c.814G>A p.Gly272Arg Missense 2/2 -
11-60889226-C-T CD5 c.949C>T p.Arg317Trp Missense 6/11 -
1-157773757-C-A FCRL1 c.197G>T p.Ser66Ile Missense 3/11 -
7-108154659-A-C PNPLA8 c.1135T>G p.Cys379Gly Missense 5/12 -
5-89979871-G-A ADGRV1 c.6133G>A p.Gly2045Arg Missense 28/90 -
20-61943283-C-T COL20A1 c.1679C>T p.Pro560Leu Missense 14/36 -
20-62729366-T-C OPRL1 c.445T>C p.Tyr149His Missense 4/5 -
5-71757172-G-A ZNF366 c.152C>T p.Pro51Leu Missense 2/5 -
2-132021741-G-A POTEE c.2713G>A p.Glu905Lys Missense 15/15 -
17-6981403-G-T CLEC10A c.97C>A p.Arg33Ser Missense 3/9 -
X-149102011-G-A CXorf40B c.82C>T p.Arg28Cys Missense 4/5 -
X-149102011-G-C CXorf40B c.82C>G p.Arg28Gly Missense 4/5 -
17-76528569-C-T DNAH17 c.3109G>A p.Glu1037Lys Missense 20/81 -
1-13718418-C-T PRAMEF17 c.881C>T p.Pro294Leu Missense 3/3 -
10-99131888-G-A RRP12 c.2285C>T p.Pro762Leu Missense 20/34 -
9-33941786-G-A UBAP2 c.1790C>T p.Ser597Phe Missense 16/29 -
8-113364697-T-C CSMD3 c.5891A>G p.Tyr1964Cys Missense 38/69 -
18-12274188-G-A CIDEA c.427G>A p.Gly143Ser Missense 4/5 -
10-101639971-G-A DNMBP c.4145C>T p.Thr1382Ile Missense 16/17 -
12-98987808-C-T SLC25A3 c.52C>T p.His18Tyr Missense 2/8 -
1-34008370-C-T CSMD2 c.8795G>A p.Arg2932His Missense 57/70 -
17-66879965-C-A ABCA8 c.3554G>T p.Gly1185Val Missense 27/38 -
22-41632497-G-A CHADL c.2054C>T p.Pro685Leu Missense 4/6 -
11-130275533-C-T ADAMTS8 c.2590G>A p.Gly864Ser Missense 9/9 -
1-156347121-G-T RHBG c.10G>T p.Val4Leu Missense 3/12 -
6-154732088-C-G CNKSR3 c.1259G>C p.Arg420Thr Missense 11/13 -
20-60884427-C-G LAMA5 c.11053G>C p.Gly3685Arg Missense 80/80 -
2-131221213-G-C POTEI c.2404C>G p.Pro802Ala Missense 15/15 -
20-60884427-C-T LAMA5 c.11053G>A p.Gly3685Arg Missense 80/80 -
6-154411110-C-T OPRM1 c.440C>T p.Ser147Phe Missense 2/4 -
2-131221213-G-T POTEI c.2404C>A p.Pro802Thr Missense 15/15 -
2-28081439-C-G RBKS c.90-1G>C - IntronicSNV - 1/7
3-165548187-G-A BCHE c.635C>T p.Ala212Val Missense 2/4 -
16-87935580-G-A CA5A c.556C>T p.Leu186Phe Missense 5/7 -
2-166179835-C-T SCN2A c.1841C>T p.Pro614Leu Missense 12/27 -
10-94025-T-C TUBB8 c.307A>G p.Lys103Glu Missense 4/4 -
19-21991811-G-T ZNF43 c.1028C>A p.Thr343Lys Missense 4/4 -
3-130107567-T-G COL6A5 c.2006T>G p.Val669Gly Missense 6/40 -
22-50655537-G-T SELENOO c.1825G>T p.Glu609* Nonsense 8/9 -
22-50655537-G-A SELENOO c.1825G>A p.Glu609Lys Missense 8/9 -
9-97081451-A-T NUTM2F c.1567T>A p.Ser523Thr Missense 7/7 -
1-178834799-C-G ANGPTL1 c.113G>C p.Arg38Pro Missense 3/6 -
1-178834799-C-T ANGPTL1 c.113G>A p.Arg38His Missense 3/6 -
17-4348380-C-T SPNS3 c.319C>T p.Arg107* Nonsense 3/12 -
11-10523066-G-A AMPD3 c.1798G>A p.Gly600Ser Missense 12/15 -
1-54649890-C-T CYB5RL c.484G>A p.Gly162Arg Missense 6/8 -
12-7173870-C-T C1S c.920C>T p.Ala307Val Missense 8/12 -
19-6760916-C-G SH2D3A c.152G>C p.Cys51Ser Missense 3/10 -
21-46930155-G-A COL18A1 c.4204G>A - missense_variant 39/41 -
3-195506603-T-C MUC4 c.11848A>G p.Thr3950Ala Missense 2/25 -
21-46930155-G-T COL18A1 c.4204G>T - missense_variant 39/41 -
21-46930155-G-C COL18A1 c.4204G>C - missense_variant 39/41 -
17-7667554-C-T DNAH2 c.3299C>T p.Ala1100Val Missense 20/86 -
2-20403741-G-A SDC1 c.460C>T p.His154Tyr Missense 4/6 -
2-20403741-G-T SDC1 c.460C>A p.His154Asn Missense 4/6 -
18-12277150-G-A CIDEA c.541G>A p.Ala181Thr Missense 5/5 -
18-12277150-G-T CIDEA c.541G>T p.Ala181Ser Missense 5/5 -
8-67342186-G-A RRS1 c.820G>A p.Val274Ile Missense 1/1 -
4-56884001-C-A CEP135 c.2990C>A p.Ser997* Nonsense 22/26 -
21-46011995-C-T TSPEAR c.83-24106G>A - IntronicSNV - 1/11
17-18244076-G-A SHMT1 c.571C>T p.Arg191Cys Missense 6/12 -
11-1092998-C-T MUC2 c.10301C>T - missense_variant 31/51 -
17-39240627-T-C KRTAP4-7 c.169T>C p.Ser57Pro Missense 1/1 -
17-10348405-C-T MYH4 c.5354G>A p.Arg1785Gln Missense 37/40 -
17-10348405-C-A MYH4 c.5354G>T p.Arg1785Leu Missense 37/40 -
11-66372978-C-T CCS c.586C>T p.Arg196Cys Missense 7/8 -
11-3239878-C-G MRGPRG c.166G>C p.Ala56Pro Missense 1/1 -
14-91805677-G-C CCDC88C c.754C>G p.Leu252Val Missense 8/30 -
2-198949074-C-T PLCL1 c.833C>T p.Ala278Val Missense 2/6 -
12-6959759-A-C CDCA3 c.122T>G p.Val41Gly Missense 3/6 -
12-113835118-C-T SDS c.505G>A p.Gly169Ser Missense 6/8 -
9-90498092-G-T SPATA31E1 c.286G>T p.Gly96Trp Missense 1/4 -
10-51853633-C-T WASHC2A c.1136C>T p.Thr379Met Missense 13/31 -
3-195507817-A-G MUC4 c.10634T>C p.Val3545Ala Missense 2/25 -
3-75787321-C-T ZNF717 c.1453G>A p.Gly485Arg Missense 5/5 -
19-9449242-T-G ZNF559-ZNF177 c.-407T>G - 5_prime_UTR_variant 3/12 -
2-95537514-C-T TEKT4 c.190C>T p.Arg64Trp Missense 1/6 -
2-179593503-G-T TTN c.15418C>A p.Pro5140Thr Missense 63/312 -
1-1426050-A-C ATAD3B c.1613A>C p.Gln538Pro Missense 15/16 -
17-293175-T-C RFLNB c.491A>G - missense_variant 2/2 -
3-49723551-A-G MST1 c.1091T>C p.Met364Thr Missense 9/18 -
3-49723551-A-C MST1 c.1091T>G p.Met364Arg Missense 9/18 -
6-160969693-T-C LPA c.4974-2A>G - IntronicSNV - 30/38
1-158913694-C-T PYHIN1 c.1117C>T p.Arg373* Nonsense 6/9 -
12-103288671-A-T PAH c.194T>A p.Ile65Asn Missense 3/13 -
12-103288671-A-C PAH c.194T>G p.Ile65Ser Missense 3/13 -
5-147481363-G-T SPINK5 c.1322G>T p.Arg441Leu Missense 15/34 -
12-103288671-A-G PAH c.194T>C p.Ile65Thr Missense 3/13 -
14-94750486-T-C SERPINA10 c.1151A>G p.Gln384Arg Missense 5/5 -
7-100680060-C-T MUC17 c.5363C>T p.Ser1788Leu Missense 3/13 -
18-67266681-C-T DOK6 c.236C>T p.Ala79Val Missense 3/8 -
9-69247573-C-A CBWD6 c.439G>T p.Ala147Ser Missense 5/15 -
5-32090378-A-C PDZD2 c.6824A>C p.Gln2275Pro Missense 20/25 -
11-124623589-C-T ESAM c.1126G>A p.Val376Met Missense 7/7 -
7-142881269-G-A TAS2R39 c.758G>A p.Ser253Asn Missense 1/1 -
1-1638925-C-T CDK11A c.1168G>A p.Asp390Asn Missense 11/20 -
14-51348345-G-T ABHD12B c.486+1G>T - IntronicSNV - 5/12
20-33584960-A-G MYH7B c.3467A>G p.Lys1156Arg Missense 31/45 -
20-33584960-A-T MYH7B c.3467A>T p.Lys1156Met Missense 31/45 -
15-75979661-C-T CSPG4 c.3745G>A p.Val1249Ile Missense 3/10 -
2-220479251-G-A STK11IP c.2852G>A - missense_variant 23/25 -
2-220479251-G-C STK11IP c.2852G>C - missense_variant 23/25 -
3-25833266-G-A OXSM c.755G>A p.Arg252Gln Missense 2/3 -
14-50581011-A-C VCPKMT c.562T>G p.Tyr188Asp Missense 4/6 -
17-26821457-C-T SLC13A2 c.1235C>T p.Thr412Met Missense 9/12 -
4-47887633-C-T NFXL1 c.1706G>A p.Arg569His Missense 14/23 -
14-23828146-G-C EFS c.683C>G p.Pro228Arg Missense 5/6 -
1-238050122-C-T ZP4 c.788G>A p.Arg263Lys Missense 6/12 -
2-166605381-C-T GALNT3 c.1812G>A p.Met604Ile Missense 11/11 -
14-24459396-G-A DHRS4L2 c.50G>A p.Gly17Asp Missense 4/9 -
6-30954999-G-C MUC21 c.1047G>C p.Glu349Asp Missense 2/3 -
12-54902285-A-G NCKAP1L c.476A>G p.Asn159Ser Missense 5/31 -
12-54902285-A-C NCKAP1L c.476A>C p.Asn159Thr Missense 5/31 -
4-159789403-G-C FNIP2 c.1615G>C p.Gly539Arg Missense 13/17 -
12-132325122-C-T MMP17 c.427C>T p.Arg143Trp Missense 4/10 -
12-132325122-C-A MMP17 c.427C>A p.Arg143Arg Synonymous 4/10 -
11-66204624-G-A MRPL11 c.424C>T p.Arg142Cys Missense 4/5 -
20-941065-G-A RSPO4 c.640C>T p.Arg214Cys Missense 5/5 -
4-88036358-G-T AFF1 c.2352G>T p.Arg784Ser Missense 11/20 -
17-78221988-G-A SLC26A11 c.1354G>A p.Gly452Ser Missense 14/18 -
X-118604060-G-T SLC25A5 c.548G>T p.Gly183Val Missense 2/4 -
12-53700853-G-A C12orf10 c.1051G>A p.Gly351Ser Missense 7/7 -
14-94849388-G-A SERPINA1 c.187C>T p.Arg63Cys Missense 2/5 -
7-37936527-C-T NME8 c.1600C>T p.Arg534* Nonsense 17/18 -
3-183823141-G-A HTR3E c.691G>A p.Glu231Lys Missense 5/8 -
16-2025255-G-A TBL3 c.703G>A p.Val235Met Missense 8/22 -
6-74331606-G-A SLC17A5 c.899C>T p.Ser300Phe Missense 7/11 -
12-53189619-C-T KRT3 c.208G>A p.Val70Met Missense 1/9 -
18-21114466-T-C NPC1 c.3535A>G p.Met1179Val Missense 23/25 -
12-53189619-C-A KRT3 c.208G>T p.Val70Leu Missense 1/9 -
19-44130960-A-G CADM4 c.475T>C p.Tyr159His Missense 4/9 -
20-39987140-G-A LPIN3 c.2369G>A p.Arg790Gln Missense 19/20 -
20-39987140-G-C LPIN3 c.2369G>C p.Arg790Pro Missense 19/20 -
20-39987140-G-T LPIN3 c.2369G>T p.Arg790Leu Missense 19/20 -
11-92532370-G-T FAT3 c.6191G>T p.Arg2064Leu Missense 9/25 -
4-88584081-G-A DMP1 c.1103G>A p.Ser368Asn Missense 5/5 -
1-146765310-C-T CHD1L c.2410C>T p.Gln804* Nonsense 21/23 -
1-157667667-T-C FCRL3 c.341A>G p.Asp114Gly Missense 5/15 -
6-170052042-A-T WDR27 c.1465T>A p.Tyr489Asn Missense 14/26 -
7-76126737-C-A DTX2 c.1093C>A p.Arg365Ser Missense 6/11 -
15-48500263-G-A SLC12A1 c.347G>A p.Arg116His Missense 2/27 -
1-21009189-T-G KIF17 c.2420A>C p.Glu807Ala Missense 11/15 -
18-61460476-G-A SERPINB7 c.301G>A p.Gly101Arg Missense 4/8 -
17-40042392-T-C ACLY c.2045A>G p.Tyr682Cys Missense 18/29 -
11-64323695-C-T SLC22A11 c.224C>T p.Pro75Leu Missense 1/10 -
18-61460476-G-T SERPINB7 c.301G>T p.Gly101Trp Missense 4/8 -
14-24641956-C-G REC8 c.91C>G p.Arg31Gly Missense 3/20 -
5-156533741-T-C HAVCR2 c.291A>G p.Ile97Met Missense 2/7 -
14-24641956-C-T REC8 c.91C>T p.Arg31Cys Missense 3/20 -
6-89975446-G-A GABRR2 c.775C>T p.Arg259Cys Missense 7/9 -
1-70881670-C-T CTH c.200C>T p.Thr67Ile Missense 2/12 -
1-38023338-A-G DNALI1 c.216A>G - missense_variant 2/6 -
5-39331894-G-A C9 c.499C>T p.Pro167Ser Missense 5/11 -
15-65490046-G-C CILP c.2578C>G p.Arg860Gly Missense 9/9 -
15-65490046-G-A CILP c.2578C>T p.Arg860Cys Missense 9/9 -
18-8825913-C-T MTCL1 c.4405C>T p.Arg1469Trp Missense 15/17 -
6-69949023-C-A ADGRB3 c.2719C>A p.Arg907Ser Missense 20/32 -
15-31355349-A-C TRPM1 c.871T>G p.Phe291Val Missense 7/27 -
1-247615127-G-A OR2B11 c.158C>T p.Ser53Phe Missense 1/1 -
9-90498092-G-A SPATA31E1 c.286G>A p.Gly96Arg Missense 1/4 -
17-19216538-C-A EPN2 c.1093C>A p.Pro365Thr Missense 7/11 -
17-19216538-C-G EPN2 c.1093C>G p.Pro365Ala Missense 7/11 -
22-44528849-G-T PARVB c.692G>T p.Arg231Leu Missense 7/14 -
22-44528849-G-A PARVB c.692G>A p.Arg231His Missense 7/14 -
17-56389516-C-T TSPOAP1 c.2666G>A p.Arg889Gln Missense 17/32 -
12-11545942-C-T PRB2 c.1070G>A p.Arg357Gln Missense 3/4 -
2-152536299-T-C NEB c.3191A>G p.Tyr1064Cys Missense 32/150 -
7-80430097-A-G SEMA3C c.962T>C p.Val321Ala Missense 10/18 -
6-31239598-G-T HLA-C c.121C>A p.Arg41Ser Missense 2/8 -
6-31239598-G-C HLA-C c.121C>G p.Arg41Gly Missense 2/8 -
6-31239598-G-A HLA-C c.121C>T p.Arg41Cys Missense 2/8 -
6-160557646-G-A SLC22A1 c.1025G>A p.Arg342His Missense 6/11 -
2-166605381-C-A GALNT3 c.1812G>T p.Met604Ile Missense 11/11 -
15-72176033-C-T MYO9A c.5300G>A p.Gly1767Glu Missense 28/42 -
11-123624520-A-G OR6X1 c.707T>C p.Phe236Ser Missense 1/1 -
1-12820808-C-T C1orf158 c.509C>T p.Pro170Leu Missense 4/5 -
17-39041228-C-G KRT20 c.210G>C p.Glu70Asp Missense 1/8 -
19-14827011-G-A ZNF333 c.688G>A p.Asp230Asn Missense 9/12 -
1-228509579-C-T OBSCN c.15037C>T p.Arg5013Trp Missense 55/81 -
19-10488926-C-T TYK2 c.157G>A p.Ala53Thr Missense 3/25 -
1-55317935-C-G DHCR24 c.1522G>C p.Asp508His Missense 9/9 -
16-11000810-C-G CIITA c.1461C>G p.Ile487Met Missense 11/20 -
15-63058593-G-C TLN2 c.5168G>C p.Arg1723Pro Missense 38/56 -
15-63058593-G-A TLN2 c.5168G>A p.Arg1723Gln Missense 38/56 -
9-115948556-G-C FKBP15 c.1471C>G p.Pro491Ala Missense 15/28 -
X-85403731-C-T DACH2 c.107C>T p.Pro36Leu Missense 1/12 -
7-23205356-C-T KLHL7 c.832C>T p.Arg278* Nonsense 8/11 -
6-32948385-G-A BRD2 c.2296G>A p.Ala766Thr Missense 13/13 -
15-40309363-T-G EIF2AK4 c.3985T>G p.Phe1329Val Missense 29/39 -
10-84745221-G-A NRG3 c.1951G>A p.Glu651Lys Missense 9/9 -
12-63543693-G-A AVPR1A c.924C>T p.Phe308Phe Synonymous 1/2 -
12-63543693-G-T AVPR1A c.924C>A p.Phe308Leu Missense 1/2 -
12-11545942-C-G PRB2 c.1070G>C p.Arg357Pro Missense 3/4 -
17-4802776-G-C CHRNE c.1019C>G p.Pro340Arg Missense 9/12 -
15-41148988-G-T SPINT1 c.1357G>T p.Ala453Ser Missense 11/11 -
15-41148988-G-A SPINT1 c.1357G>A p.Ala453Thr Missense 11/11 -
12-1908849-A-G CACNA2D4 c.2987T>C p.Phe996Ser Missense 34/38 -
11-124518058-C-T SIAE c.736G>A p.Asp246Asn Missense 6/10 -
16-334899-G-A PDIA2 c.562G>A p.Ala188Thr Missense 4/11 -
7-99129744-G-C ZKSCAN5 c.2392G>C p.Glu798Gln Missense 7/7 -
1-52823304-T-A CC2D1B c.1664A>T p.Lys555Met Missense 15/24 -
11-1090787-A-T MUC2 c.3682A>T p.Ile1228Phe Missense 28/51 -
2-202549798-G-A MPP4 c.563C>T p.Ala188Val Missense 7/22 -
2-169764141-A-C G6PC2 c.620A>C p.Tyr207Ser Missense 5/5 -
17-39346632-C-T KRTAP9-1 c.494C>T p.Pro165Leu Missense 1/1 -
11-55927431-G-T OR8K5 c.363C>A p.Asp121Glu Missense 1/1 -
10-121663608-C-T SEC23IP c.920C>T p.Pro307Leu Missense 4/19 -
11-123624869-G-A OR6X1 c.358C>T p.Arg120Cys Missense 1/1 -
19-53994634-A-G ZNF813 c.1148A>G p.Tyr383Cys Missense 4/4 -
18-29101156-T-G DSG2 c.473T>G p.Val158Gly Missense 5/15 -
20-35632140-C-A RBL1 c.3001G>T p.Ala1001Ser Missense 21/22 -
17-1792132-G-T RPA1 c.1538G>T p.Arg513Leu Missense 14/17 -
2-242593011-G-A ATG4B c.269G>A p.Arg90Gln Missense 4/13 -
9-21206592-C-G IFNA10 c.505G>C p.Ala169Pro Missense 1/1 -
9-21206592-C-T IFNA10 c.505G>A p.Ala169Thr Missense 1/1 -
10-121663608-C-G SEC23IP c.920C>G p.Pro307Arg Missense 4/19 -
11-118071315-G-A JAML c.755C>T p.Pro252Leu Missense 6/9 -
12-63131311-C-A PPM1H c.925G>T p.Glu309* Nonsense 5/10 -
12-63131311-C-T PPM1H c.925G>A p.Glu309Lys Missense 5/10 -
3-195515026-G-C MUC4 c.3425C>G p.Thr1142Ser Missense 2/25 -
1-20073700-T-A TMCO4 c.569A>T p.Tyr190Phe Missense 8/16 -
17-4802776-G-T CHRNE c.1019C>A p.Pro340Gln Missense 9/12 -
6-32489937-G-A HLA-DRB5 c.115C>T p.Gln39* Nonsense 2/6 -
6-32489937-G-C HLA-DRB5 c.115C>G p.Gln39Glu Missense 2/6 -
10-3189807-G-T PITRM1 c.2195C>A p.Thr732Lys Missense 19/27 -
10-3189807-G-A PITRM1 c.2195C>T p.Thr732Met Missense 19/27 -
22-21134223-G-A SERPIND1 c.623G>A p.Arg208His Missense 2/5 -
8-121259902-C-T COL14A1 c.2530C>T p.Arg844Trp Missense 21/48 -
1-152281142-C-A FLG c.6220G>T p.Glu2074* Nonsense 3/3 -
1-152281142-C-G FLG c.6220G>C p.Glu2074Gln Missense 3/3 -
2-128939711-G-C UGGT1 c.4091G>C p.Arg1364Pro Missense 37/41 -
20-826127-C-T FAM110A c.680C>T p.Ala227Val Missense 1/1 -
10-73511484-G-A VSIR c.839C>T p.Ser280Leu Missense 6/7 -
10-73511484-G-T VSIR c.839C>A p.Ser280* Nonsense 6/7 -
1-152282007-G-T FLG c.5355C>A p.Ser1785Arg Missense 3/3 -
1-152282007-G-A FLG c.5355C>T p.Ser1785Ser Synonymous 3/3 -
1-152282007-G-C FLG c.5355C>G p.Ser1785Arg Missense 3/3 -
15-78807407-T-A HYKK c.435T>A p.Tyr145* Nonsense 3/5 -
12-38714237-A-G ALG10B c.644A>G p.Lys215Arg Missense 3/3 -
10-12133603-T-C DHTKD1 c.1079T>C p.Val360Ala Missense 6/17 -
20-33577663-C-T MYH7B c.1834C>T p.Arg612Trp Missense 20/45 -
5-121786403-C-T SNCAIP c.763C>T p.Arg255Cys Missense 8/10 -
11-85627196-G-C CCDC83 c.1093G>C p.Asp365His Missense 11/12 -
5-121786403-C-G SNCAIP c.763C>G p.Arg255Gly Missense 8/10 -
12-111342595-G-A CCDC63 c.1546G>A p.Val516Met Missense 11/12 -
12-96379884-C-A HAL c.482G>T p.Arg161Leu Missense 12/20 -
3-49570423-C-T DAG1 c.2479C>T p.Pro827Ser Missense 6/6 -
12-96379884-C-T HAL c.482G>A p.Arg161Gln Missense 12/20 -
8-67590150-G-A C8orf44-SGK3 c.-481-1806G>A - intron_variant - 1/18
4-79343124-C-T FRAS1 c.4648C>T p.Leu1550Phe Missense 34/42 -
17-70645342-C-G SLC39A11 c.758G>C p.Arg253Pro Missense 8/10 -
17-70645342-C-T SLC39A11 c.758G>A p.Arg253Gln Missense 8/10 -
3-151164674-C-T IGSF10 c.3095G>A p.Arg1032Gln Missense 4/6 -
17-74564841-T-C ST6GALNAC2 c.811A>G p.Lys271Glu Missense 7/9 -
21-41741068-C-T DSCAM c.613G>A p.Gly205Arg Missense 4/33 -
14-21971721-C-T METTL3 c.319-1G>A - IntronicSNV - 2/10
X-106016268-A-T RNF128 c.532A>T p.Asn178Tyr Missense 2/7 -
11-1263818-C-A MUC5B c.5708C>A p.Thr1903Lys Missense 31/49 -
19-41188847-C-G NUMBL c.276G>C p.Glu92Asp Missense 4/10 -
22-19959465-G-A ARVCF c.2725C>T p.Arg909Trp Missense 18/20 -
7-150746207-C-T ASIC3 c.235C>T p.Arg79* Nonsense 1/11 -
1-117619355-C-T TTF2 c.1483C>T p.Leu495Phe Missense 7/23 -
5-132097207-C-T SEPT8 c.905G>A p.Arg302His Missense 7/10 -
10-95134707-G-A MYOF c.2114C>T p.Thr705Met Missense 23/54 -
7-2400417-A-G EIF3B c.572A>G p.Asn191Ser Missense 2/19 -
7-3678664-G-A SDK1 c.487G>A p.Asp163Asn Missense 3/45 -
7-3678664-G-C SDK1 c.487G>C p.Asp163His Missense 3/45 -
19-12384411-G-A ZNF44 c.659C>T p.Thr220Ile Missense 4/4 -
12-122404946-C-T WDR66 c.2578C>T p.Arg860Cys Missense 16/22 -
12-122404946-C-A WDR66 c.2578C>A p.Arg860Ser Missense 16/22 -
1-227165224-G-C COQ8A c.730G>C p.Gly244Arg Missense 5/15 -
1-227165224-G-A COQ8A c.730G>A p.Gly244Arg Missense 5/15 -
15-34649432-G-T NUTM1 c.3139G>T p.Gly1047Cys Missense 8/8 -
7-23871861-C-G STK31 c.2936C>G p.Ser979* Nonsense 24/24 -
8-38105235-C-T DDHD2 c.1130C>T p.Ser377Leu Missense 10/18 -
22-42335161-G-A CENPM c.442C>T p.Arg148Cys Missense 6/6 -
12-53165684-G-A KRT76 c.1234C>T p.Arg412Trp Missense 6/9 -
11-66083591-G-A CD248 c.908C>T p.Ala303Val Missense 1/1 -
14-31806781-C-T HEATR5A c.3268G>A p.Val1090Ile Missense 22/36 -
13-21549385-G-T LATS2 c.2891C>A p.Ala964Asp Missense 8/8 -
12-47163156-C-T SLC38A4 c.1355G>A p.Arg452Gln Missense 14/16 -
20-25448084-C-G NINL c.3364G>C p.Glu1122Gln Missense 19/24 -
16-57413660-C-T CX3CL1 c.185C>T p.Ala62Val Missense 2/3 -
10-101964331-A-G CHUK c.1439T>C p.Leu480Ser Missense 13/21 -
21-46032417-T-G TSPEAR c.83-44528A>C - IntronicSNV - 1/11
1-110301709-C-T EPS8L3 c.436G>A p.Ala146Thr Missense 6/19 -
2-231077628-G-T SP110 c.431C>A p.Pro144His Missense 4/19 -
20-31023663-A-G ASXL1 c.3148A>G p.Met1050Val Missense 13/13 -
9-101594229-G-A GALNT12 c.907G>A p.Asp303Asn Missense 4/10 -
12-49495266-G-A LMBR1L c.997C>T p.Arg333* Nonsense 12/17 -
6-31928234-C-T SKIV2L c.380C>T p.Ser127Leu Missense 5/28 -
16-70162749-C-T PDPR c.424C>T p.Arg142Cys Missense 5/19 -
1-152277622-G-A FLG c.9740C>T p.Ser3247Leu Missense 3/3 -
1-152277622-G-T FLG c.9740C>A p.Ser3247* Nonsense 3/3 -
20-1184297-T-C C20orf202 c.135+2T>C - IntronicSNV - 1/1
17-65989037-A-G C17orf58 c.226T>C - Missense 2/3 -
11-77336017-C-T CLNS1A c.463G>A p.Glu155Lys Missense 4/7 -
3-11389502-C-T ATG7 c.1277C>T p.Pro426Leu Missense 12/19 -
6-109962806-C-T AK9 c.848G>A p.Arg283Gln Missense 10/41 -
1-207108056-C-T PIGR c.1414G>A p.Ala472Thr Missense 6/11 -
12-57441459-G-A MYO1A c.277C>T p.Arg93* Nonsense 4/28 -
12-57441459-G-T MYO1A c.277C>A p.Arg93Arg Synonymous 4/28 -
5-66449305-C-T MAST4 c.3545C>T p.Pro1182Leu Missense 26/29 -
3-52553322-G-T STAB1 c.5077G>T p.Asp1693Tyr Missense 49/69 -
3-52553322-G-A STAB1 c.5077G>A p.Asp1693Asn Missense 49/69 -
3-52553322-G-C STAB1 c.5077G>C p.Asp1693His Missense 49/69 -
18-50683828-C-T DCC c.1364C>T p.Ala455Val Missense 8/29 -
11-34129779-C-G NAT10 c.7C>G p.Arg3Gly Missense 2/29 -
X-153206946-G-C RENBP c.930C>G p.Asn310Lys Missense 8/11 -
2-179472319-C-G TTN c.45392G>C p.Arg15131Pro Missense 226/312 -
2-179472319-C-T TTN c.45392G>A p.Arg15131His Missense 226/312 -
17-39262103-A-T KRTAP4-9 c.463A>T p.Ser155Cys Missense 1/1 -
18-29101156-T-C DSG2 c.473T>C p.Val158Ala Missense 5/15 -
2-84899498-A-G DNAH6 c.6502A>G p.Met2168Val Missense 40/77 -
17-60470939-G-A EFCAB3 c.301G>A p.Gly101Arg Missense 5/10 -
2-84899498-A-T DNAH6 c.6502A>T p.Met2168Leu Missense 40/77 -
1-176709309-G-C PAPPA2 c.4128G>C p.Glu1376Asp Missense 14/23 -
7-48312200-G-T ABCA13 c.2937G>T p.Gln979His Missense 17/62 -
20-35632140-C-T RBL1 c.3001G>A p.Ala1001Thr Missense 21/22 -
7-48312200-G-C ABCA13 c.2937G>C p.Gln979His Missense 17/62 -
3-135969266-C-A PCCB c.49C>A p.Leu17Met Missense 1/15 -
16-56868680-G-T NUP93 c.1772G>T p.Gly591Val Missense 16/22 -
3-135969266-C-T PCCB c.49C>T p.Leu17Leu Synonymous 1/15 -
3-135969266-C-G PCCB c.49C>G p.Leu17Val Missense 1/15 -
15-77407313-G-A PEAK1 c.4426C>T p.Arg1476* Nonsense 8/8 -
1-160011793-T-C KCNJ10 c.530A>G p.Glu177Gly Missense 2/2 -
3-52282182-C-T PPM1M c.724C>T p.Arg242Trp Missense 5/10 -
11-61250246-G-A PPP1R32 c.347G>A p.Arg116Gln Missense 4/14 -
3-52857988-C-T ITIH4 c.1204G>A p.Val402Met Missense 10/24 -
15-72958366-T-G GOLGA6B c.1851T>G p.His617Gln Missense 17/18 -
17-39253949-T-A KRTAP4-8 c.388A>T p.Ser130Cys Missense 1/1 -
1-152681694-G-GCTGTAGCTCTGGGGGCTG LCE4A c.143_144insCTGTAGCTCTGGGGGCTG p.Cys48_gly49insCysserserglyglycys InFrameInsertion 1/1 -
1-46740279-C-T RAD54L c.1759C>T p.Arg587Trp Missense 16/18 -
1-36558902-C-T ADPRHL2 c.1007C>T p.Pro336Leu Missense 6/6 -
19-2078238-G-C MOB3A c.322C>G p.Arg108Gly Missense 3/5 -
18-43212334-C-T SLC14A2 c.541C>T p.Leu181Phe Missense 6/21 -
17-11711183-G-A DNAH9 c.8555G>A p.Arg2852His Missense 44/69 -
17-39674602-T-C KRT15 c.478A>G p.Ile160Val Missense 1/8 -
17-11711183-G-T DNAH9 c.8555G>T p.Arg2852Leu Missense 44/69 -
11-55873365-C-G OR8H2 c.847C>G p.Pro283Ala Missense 1/1 -
6-32557503-A-G HLA-DRB1 c.17T>C p.Leu6Pro Missense 1/6 -
1-207785099-G-T CR1 c.5023G>T p.Val1675Leu Missense 30/39 -
1-207785099-G-C CR1 c.5023G>C p.Val1675Leu Missense 30/39 -
6-49754822-C-T PGK2 c.79G>A p.Val27Ile Missense 1/1 -
17-27945951-C-T CORO6 c.490G>A p.Gly164Arg Missense 4/10 -
6-99365567-T-C FBXL4 c.541A>G p.Thr181Ala Missense 5/10 -
X-151092264-C-G MAGEA4 c.128C>G p.Ser43Cys Missense 3/3 -
X-151092264-C-T MAGEA4 c.128C>T p.Ser43Phe Missense 3/3 -
4-41648248-A-G LIMCH1 c.1207A>G p.Ser403Gly Missense 11/27 -
4-41648248-A-C LIMCH1 c.1207A>C p.Ser403Arg Missense 11/27 -
1-206650040-G-T IKBKE c.305G>T p.Arg102Leu Missense 6/21 -
1-156897591-G-A LRRC71 c.889G>A p.Ala297Thr Missense 8/15 -
22-36681327-T-C MYH9 c.5323A>G p.Lys1775Glu Missense 38/41 -
16-3714439-G-A TRAP1 c.1405C>T p.Arg469Cys Missense 13/18 -
4-71347281-G-T MUC7 c.820G>T p.Ala274Ser Missense 3/3 -
4-71347281-G-A MUC7 c.820G>A p.Ala274Thr Missense 3/3 -
2-108998283-C-T SULT1C4 c.235C>T p.Arg79Trp Missense 2/7 -
3-180359874-G-A CCDC39 c.1781C>T p.Thr594Ile Missense 13/20 -
15-43531101-G-A TGM5 c.1013C>T p.Thr338Met Missense 8/12 -
15-65239676-G-A ANKDD1A c.1214G>A p.Arg405Gln Missense 13/15 -
1-22927503-G-A EPHA8 c.2651G>A p.Arg884His Missense 15/17 -
11-59575275-G-T MRPL16 c.169C>A p.Pro57Thr Missense 3/4 -
1-1848601-T-C CALML6 c.515T>C p.Met172Thr Missense 6/6 -
20-45131134-G-A ZNF334 c.841C>T p.Arg281* Nonsense 6/6 -
20-45131134-G-C ZNF334 c.841C>G p.Arg281Gly Missense 6/6 -
5-42799816-C-G CCDC152 c.698C>G p.Thr233Ser Missense 9/9 -
19-4233176-C-G EBI3 c.251C>G p.Pro84Arg Missense 3/5 -
13-113834511-T-C PCID2 c.821A>G p.Tyr274Cys Missense 11/15 -
11-47593180-G-C PTPMT1 c.605G>C - Missense 4/4 -
1-159752046-A-T DUSP23 c.371A>T p.Glu124Val Missense 3/3 -
9-137648614-C-T COL5A1 c.1831C>T p.Arg611Trp Missense 17/66 -
14-21424396-C-A RNASE2 c.466C>A p.His156Asn Missense 2/2 -
17-4802776-G-A CHRNE c.1019C>T p.Pro340Leu Missense 9/12 -
22-44064909-G-C EFCAB6 c.1657C>G p.Gln553Glu Missense 16/32 -
10-69565364-G-A DNAJC12 c.479C>T p.Ser160Phe Missense 4/5 -
2-118587033-G-C DDX18 c.1861G>C p.Val621Leu Missense 13/14 -
2-118587033-G-A DDX18 c.1861G>A p.Val621Ile Missense 13/14 -
8-42611279-T-A CHRNA6 c.1018A>T p.Met340Leu Missense 4/5 -
22-20024596-C-G TANGO2 c.56+219C>G - IntronicSNV - 2/8
6-145103205-A-G UTRN c.8780A>G p.Asn2927Ser Missense 60/74 -
8-8185740-T-C PRAG1 c.2552A>G p.Glu851Gly Missense 5/6 -
19-11285230-C-T KANK2 c.2011G>A p.Ala671Thr Missense 7/11 -
7-148947431-C-T ZNF212 c.206C>T p.Thr69Met Missense 2/5 -
17-73238508-T-C GGA3 c.656A>G p.Glu219Gly Missense 8/17 -
1-90180132-G-A LRRC8C c.2003G>A p.Ser668Asn Missense 3/3 -
10-28224092-C-A ARMC4 c.2342G>T p.Gly781Val Missense 16/20 -
4-110791526-A-G LRIT3 c.1621A>G p.Ile541Val Missense 4/4 -
12-53298582-C-A KRT8 c.184G>T p.Gly62Cys Missense 1/8 -
4-90872862-C-G MMRN1 c.3225C>G p.Asn1075Lys Missense 7/8 -
5-134345125-A-G CATSPER3 c.881A>G p.Lys294Arg Missense 6/8 -
7-7571257-A-G COL28A1 c.403T>C p.Tyr135His Missense 3/35 -
1-248616418-C-A OR2T2 c.320C>A p.Thr107Asn Missense 1/1 -
5-147506583-A-G SPINK5 c.2995A>G p.Lys999Glu Missense 31/34 -
2-113082151-A-G ZC3H6 c.1763A>G p.Tyr588Cys Missense 10/12 -
7-6476161-G-C DAGLB c.251C>G p.Thr84Arg Missense 3/15 -
7-6476161-G-A DAGLB c.251C>T p.Thr84Met Missense 3/15 -
7-23821123-A-T STK31 c.2051A>T p.His684Leu Missense 16/24 -
2-95537605-G-A TEKT4 c.281G>A p.Arg94Gln Missense 1/6 -
2-114257242-A-G FOXD4L1 c.409A>G p.Ile137Val Missense 1/1 -
2-114257242-A-T FOXD4L1 c.409A>T p.Ile137Phe Missense 1/1 -
17-39316834-C-G KRTAP4-4 c.110G>C p.Arg37Pro Missense 1/1 -
17-31323959-C-A SPACA3 c.442C>A p.Arg148Arg Synonymous 3/5 -
17-31323959-C-G SPACA3 c.442C>G p.Arg148Gly Missense 3/5 -
11-1254407-G-A MUC5B c.2230G>A p.Gly744Ser Missense 18/49 -
1-114248781-T-A PHTF1 c.1402A>T p.Asn468Tyr Missense 12/18 -
15-62989963-C-T TLN2 c.1369C>T p.Arg457Cys Missense 12/56 -
7-1477769-C-T MICALL2 c.2275G>A p.Val759Met Missense 12/17 -
7-1477769-C-G MICALL2 c.2275G>C p.Val759Leu Missense 12/17 -
11-60617428-C-G CCDC86 c.904C>G p.Arg302Gly Missense 3/4 -
11-60617428-C-T CCDC86 c.904C>T p.Arg302Trp Missense 3/4 -
1-84417585-T-C TTLL7 c.100A>G p.Lys34Glu Missense 3/21 -
20-60903022-G-C LAMA5 c.4697C>G p.Pro1566Arg Missense 36/80 -
20-60903022-G-A LAMA5 c.4697C>T p.Pro1566Leu Missense 36/80 -
X-30269409-C-A MAGEB1 c.799C>A p.Arg267Ser Missense 4/4 -
X-153043867-C-T PLXNB3 c.5560C>T p.Arg1854Cys Missense 35/37 -
11-903039-G-A CHID1 c.184C>T p.Leu62Phe Missense 3/13 -
10-75147454-T-C ANXA7 c.626A>G p.Tyr209Cys Missense 7/13 -
1-214558119-T-G PTPN14 c.1079A>C p.His360Pro Missense 13/19 -
1-214558119-T-C PTPN14 c.1079A>G p.His360Arg Missense 13/19 -
6-33248300-C-G WDR46 c.1430-1G>C - IntronicSNV - 11/14
5-40716359-G-C TTC33 c.677C>G p.Ser226* Nonsense 5/5 -
16-425368-T-C TMEM8A c.1292A>G p.Asn431Ser Missense 7/13 -
X-23933912-G-A CXorf58 c.311+1G>A - IntronicSNV - 4/8
13-37453762-A-G SMAD9 c.65T>C p.Leu22Pro Missense 2/6 -
19-33392223-A-G CEP89 c.1661T>C p.Leu554Ser Missense 15/19 -
1-155026438-C-T ADAM15 c.316C>T p.Arg106Trp Missense 4/21 -
11-123810603-T-G OR4D5 c.280T>G p.Phe94Val Missense 1/1 -
11-5080130-C-T OR52E2 c.728G>A p.Gly243Asp Missense 1/1 -
1-226046964-T-C TMEM63A c.1309A>G p.Thr437Ala Missense 15/25 -
17-80049119-G-A FASN c.1471C>T p.Pro491Ser Missense 9/43 -
16-88752796-C-G SNAI3 c.19G>C p.Val7Leu Missense 1/3 -
22-22892314-G-A PRAME c.787C>T p.Arg263Cys Missense 4/5 -
15-77067254-T-C SCAPER c.977A>G p.Glu326Gly Missense 9/32 -
15-59499896-G-C MYO1E c.1530+984C>G - IntronicSNV - 14/27
6-139206888-C-A ECT2L c.2180C>A p.Thr727Asn Missense 18/22 -
6-139206888-C-T ECT2L c.2180C>T p.Thr727Ile Missense 18/22 -
5-34945012-G-C DNAJC21 c.1024G>C p.Val342Leu Missense 8/13 -
1-17296403-G-A CROCC c.5425G>A p.Glu1809Lys Missense 33/37 -
17-73567801-G-T LLGL2 c.2230G>T p.Ala744Ser Missense 18/25 -
17-73567801-G-A LLGL2 c.2230G>A p.Ala744Thr Missense 18/25 -
19-12430462-G-A ZNF563 c.377C>T p.Ser126Phe Missense 4/4 -
19-12430462-G-C ZNF563 c.377C>G p.Ser126Cys Missense 4/4 -
8-100994257-G-A RGS22 c.3268C>T p.Pro1090Ser Missense 22/28 -
19-57987104-C-T ZNF772 c.123G>A p.Trp41* Nonsense 3/5 -
3-127395847-T-A ABTB1 c.564T>A p.Cys188* Nonsense 7/12 -
15-40699856-A-T IVD c.145-282A>T - intron_variant - 1/10
17-43535766-G-T PLEKHM1 c.1348C>A p.Pro450Thr Missense 6/12 -
9-123253728-G-C CDK5RAP2 c.1339C>G p.Arg447Gly Missense 13/38 -
2-61538750-A-C USP34 c.3742T>G p.Leu1248Val Missense 27/80 -
11-66366682-G-A CCS c.208G>A p.Gly70Arg Missense 3/8 -
11-124413265-A-G OR8B12 c.286T>C p.Cys96Arg Missense 1/1 -
10-129216807-T-C DOCK1 c.4629+2T>C - splice_donor_variant - 45/51
10-12940631-C-T CCDC3 c.598G>A p.Val200Ile Missense 3/3 -
5-79616400-G-A SPZ1 c.366G>A p.Met122Ile Missense 1/1 -
3-137807295-G-A DZIP1L c.925C>T p.Arg309* Nonsense 6/16 -
3-137807295-G-T DZIP1L c.925C>A p.Arg309Arg Synonymous 6/16 -
7-141490219-G-A TAS2R5 c.58G>A p.Gly20Ser Missense 1/1 -
1-147096153-G-A BCL9 c.3674G>A p.Arg1225Gln Missense 10/10 -
X-117764384-C-T DOCK11 c.3817C>T p.Arg1273Cys Missense 35/53 -
12-133253180-A-T POLE c.861T>A p.Asp287Glu Missense 9/49 -
19-37383115-A-G ZNF829 c.578T>C p.Phe193Ser Missense 6/6 -
1-203192681-T-C CHIT1 c.422A>G p.Tyr141Cys Missense 5/11 -
19-9584995-C-T ZNF560 c.37G>A p.Val13Met Missense 4/10 -
11-6592054-C-T DNHD1 c.13312C>T p.Arg4438* Nonsense 42/43 -
2-187702100-G-T ZSWIM2 c.676C>A p.Leu226Met Missense 5/9 -
16-31196420-C-T FUS c.684C>T p.Gly228Gly Synonymous 6/15 -
3-51928928-A-G IQCF1 c.596T>C p.Ile199Thr Missense 4/4 -
6-46672913-A-G PLA2G7 c.1166T>C p.Leu389Ser Missense 11/12 -
7-5982989-G-A RSPH10B c.1724C>T p.Thr575Met Missense 15/21 -
2-1271281-G-A SNTG2 c.1222G>A p.Glu408Lys Missense 14/17 -
11-112064369-A-C BCO2 c.364A>C p.Asn122His Missense 3/12 -
19-47177800-C-T PRKD2 c.2617G>A p.Glu873Lys Missense 18/18 -
9-43816717-G-A CNTNAP3B c.823G>A p.Val275Ile Missense 6/24 -
9-43816717-G-T CNTNAP3B c.823G>T p.Val275Phe Missense 6/24 -
10-27688101-G-T PTCHD3 c.1426C>A p.Arg476Arg Synonymous 4/4 -
3-112647783-T-C CD200R1 c.649A>G p.Ser217Gly Missense 5/8 -
2-45829224-T-C SRBD1 c.81-2A>G - IntronicSNV - 2/20
5-82816987-T-A VCAN c.2862T>A p.Phe954Leu Missense 7/15 -
10-103340100-G-A POLL c.1268C>T p.Ala423Val Missense 8/9 -
16-2376463-G-A ABCA3 c.5C>T p.Ala2Val Missense 4/33 -
5-82816987-T-G VCAN c.2862T>G p.Phe954Leu Missense 7/15 -
16-80718728-C-T CDYL2 c.323G>A p.Arg108Gln Missense 2/7 -
9-37711382-G-C FRMPD1 c.398G>C p.Arg133Pro Missense 5/16 -
9-37711382-G-A FRMPD1 c.398G>A p.Arg133His Missense 5/16 -
17-10433181-C-T MYH2 c.2908G>A p.Val970Ile Missense 23/40 -
14-89210371-A-C EML5 c.521T>G p.Ile174Ser Missense 4/44 -
11-499944-G-A RNH1 c.328C>T p.Arg110Cys Missense 4/10 -
20-58342394-C-G PHACTR3 c.695C>G p.Pro232Arg Missense 5/13 -
7-92730678-A-G SAMD9 c.4733T>C p.Ile1578Thr Missense 3/3 -
11-823586-C-T PNPLA2 c.756C>T p.Asn252Asn Synonymous 6/10 -
11-823586-C-G PNPLA2 c.756C>G p.Asn252Lys Missense 6/10 -
16-3486593-T-C ZNF597 c.1106A>G p.His369Arg Missense 4/4 -
7-2296552-A-G SNX8 c.1241T>C p.Ile414Thr Missense 10/11 -
7-2296552-A-C SNX8 c.1241T>G p.Ile414Ser Missense 10/11 -
1-159856388-C-T CFAP45 c.680G>A p.Arg227Gln Missense 6/12 -
7-138333819-C-T SVOPL c.142G>A p.Gly48Arg Missense 4/12 -
1-46662456-C-T POMGNT1 c.301G>A p.Val101Ile Missense 4/22 -
1-248367306-T-A OR2M3 c.937T>A - Missense 1/1 -
15-42133718-C-G PLA2G4B c.439C>G p.Arg147Gly Missense 7/20 -
16-2030971-C-T NOXO1 c.116G>A p.Arg39His Missense 2/8 -
22-32108594-G-A PRR14L c.5231C>T p.Pro1744Leu Missense 4/9 -
19-51738927-C-T CD33 c.920C>T p.Ser307Phe Missense 6/7 -
1-120934449-C-T FCGR1B c.239G>A p.Ser80Asn Missense 3/5 -
12-122277904-G-T HPD c.1005C>A p.Ile335Ile Synonymous 13/14 -
19-55898126-T-TT RPL28 c.205+65_205+65dup - IntronicInsertion - 3/4
2-234638269-C-G UGT1A4 c.867+9936C>G - IntronicSNV - 1/4
11-3681156-G-T ART1 c.407G>T p.Arg136Leu Missense 3/5 -
14-70515576-A-G SLC8A3 c.428T>C p.Ile143Thr Missense 5/6 -
10-96534863-C-A CYP2C19 c.217C>A p.Arg73Ser Missense 2/9 -
16-841233-C-T CHTF18 c.967C>T p.Arg323Trp Missense 8/22 -
7-141794453-A-T MGAM c.4652A>T p.Tyr1551Phe Missense 39/48 -
16-46708292-C-T VPS35 c.1094G>A p.Arg365His Missense 10/17 -
17-10231335-C-T MYH13 c.2539G>A p.Ala847Thr Missense 22/41 -
19-36046460-T-A ATP4A c.2039A>T p.Gln680Leu Missense 14/22 -
X-128884450-C-T XPNPEP2 c.644C>T p.Thr215Ile Missense 8/21 -
10-7765529-A-G ITIH2 c.983A>G p.Gln328Arg Missense 9/21 -
3-150908578-G-T MED12L c.1828G>T p.Asp610Tyr Missense 13/43 -
22-50714320-C-T PLXNB2 c.5410G>A p.Glu1804Lys Missense 36/37 -
3-119528981-C-T NR1I2 c.271C>T p.Arg91Trp Missense 3/9 -
3-119528981-C-A NR1I2 c.271C>A p.Arg91Arg Synonymous 3/9 -
3-119528981-C-G NR1I2 c.271C>G p.Arg91Gly Missense 3/9 -
16-20802007-C-T ACSM3 c.1323C>T p.Tyr441Tyr Synonymous 10/14 -
16-20802007-C-G ACSM3 c.1323C>G p.Tyr441* Nonsense 10/14 -
2-196723434-C-T DNAH7 c.7831G>A p.Ala2611Thr Missense 43/65 -
5-118850709-G-T HSD17B4 c.1471G>T p.Ala491Ser Missense 17/24 -
22-41257566-G-T XPNPEP3 c.64+4317G>T - IntronicSNV - 1/9
22-41257566-G-A XPNPEP3 c.64+4317G>A - IntronicSNV - 1/9
14-105418381-G-A AHNAK2 c.3407C>T p.Pro1136Leu Missense 7/7 -
14-105418381-G-C AHNAK2 c.3407C>G p.Pro1136Arg Missense 7/7 -
16-3139999-G-T ZSCAN10 c.1436C>A - missense_variant 6/6 -
19-39379770-C-T SIRT2 c.347G>A p.Arg116His Missense 7/13 -
2-170428403-C-T FASTKD1 c.137G>A p.Cys46Tyr Missense 2/15 -
2-54587521-A-G C2orf73 c.686A>G p.Gln229Arg Missense 5/5 -
2-38298394-C-T CYP1B1 c.1103G>A p.Arg368His Missense 3/3 -
5-179252184-A-G SQSTM1 c.460A>G p.Lys154Glu Missense 6/9 -
3-9792107-G-C OGG1 c.137G>C p.Arg46Pro Missense 1/7 -
3-9792107-G-A OGG1 c.137G>A p.Arg46Gln Missense 1/7 -
17-78022555-G-C CCDC40 c.850G>C p.Asp284His Missense 5/18 -
17-78022555-G-A CCDC40 c.850G>A p.Asp284Asn Missense 5/18 -
17-76219591-G-A BIRC5 c.385G>A p.Glu129Lys Missense 4/4 -
6-38840444-A-C DNAH8 c.7123A>C p.Asn2375His Missense 50/93 -
1-63270864-C-A ATG4C c.98C>A p.Thr33Lys Missense 3/11 -
6-121562641-C-T TBC1D32 c.2215G>A p.Ala739Thr Missense 19/32 -
1-176833571-C-T ASTN1 c.3734G>A p.Arg1245His Missense 23/23 -
17-39316834-C-T KRTAP4-4 c.110G>A p.Arg37His Missense 1/1 -
5-137894331-C-T HSPA9 c.1426G>A p.Ala476Thr Missense 12/17 -
21-45960009-A-G TSPEAR c.304-6203T>C - IntronicSNV - 2/11
X-37027156-C-G FAM47C c.673C>G p.Gln225Glu Missense 1/1 -
7-105660972-C-T CDHR3 c.1807C>T p.Arg603Cys Missense 13/19 -
3-125824595-T-C ALDH1L1 c.2627A>G p.Lys876Arg Missense 22/23 -
14-88431885-C-T GALC c.997G>A p.Gly333Arg Missense 9/17 -
2-131487691-C-T GPR148 c.967C>T p.Arg323Cys Missense 1/1 -
2-136107663-T-C ZRANB3 c.482A>G p.Tyr161Cys Missense 5/21 -
18-9887437-G-A TXNDC2 c.760G>A p.Ala254Thr Missense 2/2 -
4-122682720-C-A TMEM155 c.185G>T p.Arg62Leu Missense 5/6 -
17-10265747-A-G MYH13 c.278T>C p.Met93Thr Missense 4/41 -
1-27223977-G-C GPATCH3 c.691C>G p.Arg231Gly Missense 2/7 -
15-75341523-G-A PPCDC c.562G>A p.Val188Met Missense 6/6 -
19-6427496-A-C SLC25A41 c.641T>G p.Leu214Trp Missense 5/7 -
1-183532364-T-A NCF2 c.1256A>T p.Asn419Ile Missense 13/15 -
12-43887001-A-T ADAMTS20 c.923T>A p.Val308Glu Missense 5/39 -
12-43887001-A-C ADAMTS20 c.923T>G p.Val308Gly Missense 5/39 -
20-2797635-C-T TMEM239 c.435C>T p.Gly145Gly Synonymous 2/2 -
16-4935615-C-T PPL c.3041G>A p.Arg1014Gln Missense 22/22 -
14-105413876-C-G AHNAK2 c.7912G>C p.Asp2638His Missense 7/7 -
3-58852298-G-C C3orf67 c.877C>G p.Gln293Glu Missense 11/16 -
17-4720307-G-A PLD2 c.1658G>A p.Arg553Gln Missense 16/25 -
11-36614810-C-T RAG2 c.909G>A p.Glu303Glu Synonymous 2/2 -
11-36614810-C-A RAG2 c.909G>T p.Glu303Asp Missense 2/2 -
21-47952128-T-C DIP2A c.1283T>C p.Ile428Thr Missense 10/38 -
17-7577022-G-A TP53 c.916C>T p.Arg306* Nonsense 8/11 -
3-98188554-T-C OR5K1 c.134T>C p.Leu45Ser Missense 1/1 -
15-34649336-G-A NUTM1 c.3043G>A p.Glu1015Lys Missense 8/8 -
7-51095669-G-A COBL c.3124C>T p.Arg1042Cys Missense 10/13 -
7-51095669-G-C COBL c.3124C>G p.Arg1042Gly Missense 10/13 -
20-58558126-G-A CDH26 c.541+1G>A - IntronicSNV - 5/17
X-50658966-G-A BMP15 c.538G>A p.Ala180Thr Missense 2/2 -
X-50658966-G-T BMP15 c.538G>T p.Ala180Ser Missense 2/2 -
15-50366373-C-T ATP8B4 c.38G>A p.Arg13Gln Missense 3/28 -
7-150693984-G-A NOS3 c.553G>A p.Val185Met Missense 5/27 -
4-951980-C-T TMEM175 c.1211C>T p.Thr404Met Missense 11/11 -
3-130107567-T-C COL6A5 c.2006T>C p.Val669Ala Missense 6/40 -
4-951980-C-A TMEM175 c.1211C>A p.Thr404Lys Missense 11/11 -
11-118067537-C-G JAML c.976-1G>C - IntronicSNV - 7/8
21-47965873-C-T DIP2A c.2393C>T p.Pro798Leu Missense 20/38 -
8-22459488-C-T C8orf58 c.661C>T p.Pro221Ser Missense 4/7 -
2-27259421-G-A TMEM214 c.787G>A p.Gly263Ser Missense 6/17 -
11-10622593-G-A MRVI1 c.1865C>T p.Ser622Leu Missense 14/20 -
19-41188847-C-T NUMBL c.276G>A p.Glu92Glu Synonymous 4/10 -
18-14513780-C-T POTEC c.1414G>A p.Glu472Lys Missense 10/11 -
7-132192810-C-T PLXNA4 c.643G>A p.Ala215Thr Missense 3/5 -
1-85020695-A-G CTBS c.1145T>C p.Leu382Pro Missense 7/7 -
1-158517543-A-T OR6Y1 c.353T>A p.Ile118Asn Missense 1/1 -
14-102514328-C-T DYNC1H1 c.13181C>T p.Thr4394Met Missense 73/78 -
18-44470854-C-T PIAS2 c.188G>A p.Arg63His Missense 2/14 -
5-176759170-C-A LMAN2 c.988G>T p.Ala330Ser Missense 8/8 -
22-18904466-T-C PRODH c.1463A>G p.Asn488Ser Missense 13/15 -
3-195506704-T-A MUC4 c.11747A>T p.Asp3916Val Missense 2/25 -
6-69949023-C-T ADGRB3 c.2719C>T p.Arg907Cys Missense 20/32 -
8-37734755-G-A RAB11FIP1 c.686C>T p.Thr229Met Missense 2/5 -
7-99084519-T-C ZNF789 c.686T>C p.Phe229Ser Missense 5/5 -
14-53003450-C-T TXNDC16 c.379G>A p.Ala127Thr Missense 6/21 -
2-25384048-G-C POMC c.706C>G p.Arg236Gly Missense 4/4 -
7-48311884-C-T ABCA13 c.2621C>T p.Ser874Phe Missense 17/62 -
5-33989503-C-G AMACR c.844G>C p.Glu282Gln Missense 5/5 -
14-101005562-C-T BEGAIN c.526G>A p.Asp176Asn Missense 7/7 -
7-55902239-G-A SEPT14 c.599C>T p.Ser200Phe Missense 6/10 -
7-55902239-G-C SEPT14 c.599C>G p.Ser200Cys Missense 6/10 -
12-45059357-G-A NELL2 c.1354C>T p.Arg452Cys Missense 14/21 -
16-20749269-T-C THUMPD1 c.416A>G p.Lys139Arg Missense 3/4 -
19-2917857-C-T ZNF57 c.1238C>T p.Thr413Met Missense 4/4 -
6-121433664-C-G TBC1D32 c.3311G>C p.Arg1104Thr Missense 29/32 -
19-43860249-G-T CD177 c.608G>T p.Cys203Phe Missense 5/9 -
6-42643926-A-G UBR2 c.4384A>G p.Thr1462Ala Missense 39/47 -
19-43860249-G-A CD177 c.608G>A p.Cys203Tyr Missense 5/9 -
10-46321892-G-T AGAP4 c.1463C>A p.Thr488Asn Missense 7/7 -
22-37273825-C-T NCF4 c.980C>T p.Thr327Met Missense 10/10 -
17-46058836-C-T CDK5RAP3 c.1489C>T p.Arg497Cys Missense 14/14 -
6-31473478-A-C MICB c.155A>C p.Asp52Ala Missense 2/6 -
16-3641280-C-T SLX4 c.2359G>A p.Glu787Lys Missense 12/15 -
1-184764181-G-A FAM129A c.2717C>T p.Ser906Leu Missense 14/14 -
X-57162325-G-T SPIN2A c.706C>A p.Pro236Thr Missense 2/2 -
X-57162325-G-A SPIN2A c.706C>T p.Pro236Ser Missense 2/2 -
10-103921974-G-A NOLC1 c.2048G>A p.Arg683Gln Missense 13/13 -
11-55322818-G-T OR4C15 c.874G>T - stop_gained 1/1 -
1-214819463-G-A CENPF c.6550G>A p.Val2184Ile Missense 13/20 -
8-17930774-G-A ASAH1 c.174-1875C>T - IntronicSNV - 2/13
1-45469395-G-A HECTD3 c.2447C>T p.Ala816Val Missense 20/21 -
11-66083816-G-A CD248 c.683C>T p.Pro228Leu Missense 1/1 -
10-13330395-C-T PHYH c.343G>A p.Gly115Ser Missense 5/8 -
20-56137758-C-T PCK1 c.413C>T p.Thr138Ile Missense 4/10 -
4-190873403-G-A FRG1 c.220G>A p.Asp74Asn Missense 3/9 -
4-151199033-G-A LRBA c.8437C>T p.Arg2813Trp Missense 56/57 -
3-75790832-T-C ZNF717 c.113A>G p.Asp38Gly Missense 3/5 -
1-201294893-A-T PKP1 c.2096A>T p.Lys699Met Missense 13/15 -
1-152681694-G-GCTGAGCTCTGGGGGCTG LCE4A c.143_144insCTGAGCTCTGGGGGCTG p.Gly49*fs*1 Nonsense 1/1 -
6-51944754-C-T PKHD1 c.334G>A p.Gly112Arg Missense 5/67 -
22-25124143-C-T PIWIL3 c.1932+1G>A - IntronicSNV - 15/20
2-220413919-G-C TMEM198 c.788G>C p.Arg263Pro Missense 4/5 -
2-220413919-G-A TMEM198 c.788G>A p.Arg263Gln Missense 4/5 -
12-9020954-G-C A2ML1 c.4061+1G>C - IntronicSNV - 31/35
12-9020954-G-A A2ML1 c.4061+1G>A - IntronicSNV - 31/35
6-42666208-G-A PRPH2 c.866C>T p.Ser289Leu Missense 3/3 -
20-30789888-G-A PLAGL2 c.94C>T p.Arg32Trp Missense 2/3 -
20-30789888-G-C PLAGL2 c.94C>G p.Arg32Gly Missense 2/3 -
9-140437947-G-A PNPLA7 c.368C>T p.Thr123Met Missense 5/34 -
5-6623335-G-A NSUN2 c.529C>T p.His177Tyr Missense 5/19 -
3-195512567-G-T MUC4 c.5884C>A p.Pro1962Thr Missense 2/25 -
3-195512567-G-A MUC4 c.5884C>T p.Pro1962Ser Missense 2/25 -
13-39544348-G-A STOML3 c.463C>T p.Arg155* Nonsense 6/8 -
4-170398474-A-C NEK1 c.2235T>G p.Asn745Lys Missense 26/36 -
11-85622346-T-C CCDC83 c.695T>C p.Val232Ala Missense 8/12 -
16-841233-C-G CHTF18 c.967C>G p.Arg323Gly Missense 8/22 -
X-49021639-C-T MAGIX c.619C>T p.Arg207Trp Missense 5/6 -
3-124456423-C-T UMPS c.319C>T p.Arg107Cys Missense 3/6 -
16-31160463-C-T PRSS36 c.203G>A p.Gly68Asp Missense 4/15 -
3-49725184-G-A MST1 c.241C>T p.Arg81Trp Missense 2/18 -
20-43129073-G-A SERINC3 c.1286C>T p.Pro429Leu Missense 10/10 -
5-132652314-C-A FSTL4 c.440G>T p.Arg147Leu Missense 5/16 -
5-132652314-C-T FSTL4 c.440G>A p.Arg147His Missense 5/16 -
17-39261759-G-A KRTAP4-9 c.119G>A p.Cys40Tyr Missense 1/1 -
3-45152112-C-T CDCP1 c.877G>A p.Glu293Lys Missense 4/9 -
5-80628348-T-G ACOT12 c.1339A>C p.Lys447Gln Missense 13/15 -
4-69962375-T-C UGT2B7 c.137T>C p.Leu46Pro Missense 1/6 -
5-140764394-T-A PCDHGA1 c.2421+51722T>A - IntronicSNV - 1/3
5-140719283-A-T PCDHGA1 c.2421+6611A>T - IntronicSNV - 1/3
5-79033758-C-T CMYA5 c.9170C>T p.Thr3057Ile Missense 2/13 -
17-39296361-A-G KRTAP4-6 c.379T>C p.Ser127Pro Missense 1/1 -
21-45959261-C-A TSPEAR c.304-5455G>T - IntronicSNV - 2/11
21-45959261-C-T TSPEAR c.304-5455G>A - IntronicSNV - 2/11
5-43039618-G-T ANXA2R c.531C>A p.Phe177Leu Missense 1/1 -
9-90498092-G-C SPATA31E1 c.286G>C p.Gly96Arg Missense 1/4 -
9-114840913-C-T SUSD1 c.1658G>A p.Cys553Tyr Missense 12/17 -
1-186121912-G-A HMCN1 c.14927G>A p.Arg4976Gln Missense 96/107 -
12-105440542-C-T ALDH1L2 c.1809G>A p.Trp603* Nonsense 15/23 -
12-105440542-C-G ALDH1L2 c.1809G>C p.Trp603Cys Missense 15/23 -
22-24911223-G-A UPB1 c.676G>A p.Gly226Arg Missense 6/10 -
1-155255014-G-T HCN3 c.1148G>T p.Arg383Leu Missense 5/8 -
1-155255014-G-C HCN3 c.1148G>C p.Arg383Pro Missense 5/8 -
19-51649312-C-T SIGLEC7 c.682C>T p.Arg228* Nonsense 3/6 -
19-13007041-G-A GCDH c.658G>A p.Asp220Asn Missense 8/12 -
9-139925490-C-T FUT7 c.701G>A p.Arg234His Missense 2/2 -
5-140719283-A-G PCDHGA1 c.2421+6611A>G - IntronicSNV - 1/3
1-183187613-C-T LAMC2 c.493C>T p.Arg165Cys Missense 4/23 -
15-43244587-G-A UBR1 c.4895C>T p.Ala1632Val Missense 45/47 -
X-149100781-G-T CXorf40B c.458C>A p.Pro153His Missense 5/5 -
3-195515102-G-C MUC4 c.3349C>G p.His1117Asp Missense 2/25 -
7-100226902-C-T TFR2 c.1364G>A p.Arg455Gln Missense 10/18 -
17-7673930-A-G DNAH2 c.4154A>G p.Tyr1385Cys Missense 26/86 -
3-137816662-T-C DZIP1L c.529A>G p.Asn177Asp Missense 3/16 -
19-53208925-C-T ZNF611 c.1383G>A p.Lys461Lys Synonymous 7/7 -
19-53208925-C-G ZNF611 c.1383G>C p.Lys461Asn Missense 7/7 -
10-93257-G-A TUBB8 c.1075C>T p.Arg359Trp Missense 4/4 -
6-32729439-T-C HLA-DQB2 c.362A>G p.Gln121Arg Missense 2/5 -
19-58153465-T-A ZNF211 c.1806T>A p.Tyr602* Nonsense 5/5 -
1-152284450-C-G FLG c.2912G>C p.Arg971Pro Missense 3/3 -
1-152284450-C-T FLG c.2912G>A p.Arg971His Missense 3/3 -
11-618833-G-C CDHR5 c.1726C>G p.Pro576Ala Missense 13/15 -
3-98188554-T-A OR5K1 c.134T>A p.Leu45* Nonsense 1/1 -
12-66773075-C-T GRIP1 c.2450G>A p.Arg817Gln Missense 19/23 -
7-24901298-C-T OSBPL3 c.961G>A p.Asp321Asn Missense 10/23 -
1-94466624-C-T ABCA4 c.6320G>A p.Arg2107His Missense 46/50 -
1-94466624-C-G ABCA4 c.6320G>C p.Arg2107Pro Missense 46/50 -
15-31246972-C-T MTMR10 c.1060G>A p.Val354Ile Missense 10/16 -
15-31246972-C-G MTMR10 c.1060G>C p.Val354Leu Missense 10/16 -
7-117188750-C-T CFTR c.1265C>T p.Ser422Phe Missense 10/27 -
7-99250236-G-T CYP3A5 c.1193C>A p.Thr398Asn Missense 11/13 -
3-195511465-G-A MUC4 c.6986C>T p.Ala2329Val Missense 2/25 -
7-80292448-C-T CD36 c.572C>T p.Pro191Leu Missense 6/14 -
2-103340233-C-T MFSD9 c.563G>A p.Gly188Asp Missense 5/6 -
2-135076243-C-T MGAT5 c.506C>T p.Ser169Leu Missense 4/16 -
16-1652418-C-T IFT140 c.322G>A p.Val108Met Missense 4/31 -
2-27804758-A-C C2orf16 c.5319A>C p.Arg1773Ser Missense 1/1 -
11-92577352-G-T FAT3 c.10819G>T p.Ala3607Ser Missense 18/25 -
1-222716993-C-G HHIPL2 c.860G>C p.Arg287Pro Missense 2/9 -
1-222716993-C-A HHIPL2 c.860G>T p.Arg287Leu Missense 2/9 -
17-29182208-C-T ATAD5 c.2498C>T p.Ala833Val Missense 7/23 -
17-29182208-C-G ATAD5 c.2498C>G p.Ala833Gly Missense 7/23 -
14-24709965-G-A TINF2 c.721C>T p.Pro241Ser Missense 6/9 -
11-1263818-C-T MUC5B c.5708C>T p.Thr1903Met Missense 31/49 -
4-107249368-A-G AIMP1 c.359A>G p.Glu120Gly Missense 4/7 -
3-42234663-C-T TRAK1 c.692C>T p.Ser231Leu Missense 7/13 -
22-21331032-C-T AIFM3 c.1123C>T p.Arg375Cys Missense 12/21 -
11-3239878-C-T MRGPRG c.166G>A p.Ala56Thr Missense 1/1 -
1-153279596-C-T PGLYRP3 c.203G>A p.Arg68Gln Missense 2/7 -
6-31324556-C-T HLA-B c.252G>A p.Trp84* Nonsense 2/8 -
6-31324556-C-G HLA-B c.252G>C p.Trp84Cys Missense 2/8 -
19-12502301-G-A ZNF799 c.911C>T p.Thr304Ile Missense 4/4 -
19-52538303-C-T ZNF432 c.629G>A p.Cys210Tyr Missense 5/5 -
6-30883962-G-A VARS2 c.607G>A p.Gly203Arg Missense 7/30 -
7-98449223-C-T TMEM130 c.827G>A p.Arg276His Missense 6/8 -
16-454979-G-A DECR2 c.104G>A p.Gly35Glu Missense 2/9 -
X-54776483-G-A ITIH6 c.3787C>T p.Arg1263* Nonsense 13/13 -
2-189855743-G-A COL3A1 c.812G>A p.Arg271Gln Missense 11/51 -
21-46308800-C-T ITGB2 c.1888G>A p.Glu630Lys Missense 14/16 -
2-131221622-C-T POTEI c.1995G>A p.Met665Ile Missense 15/15 -
17-76046849-C-T TNRC6C c.1706C>T p.Pro569Leu Missense 4/21 -
11-75298765-T-C MAP6 c.1781A>G p.Asp594Gly Missense 4/4 -
9-138395567-G-A MRPS2 c.479G>A p.Arg160His Missense 4/4 -
5-140790021-C-T PCDHGB4 c.2397+20173C>T - IntronicSNV - 1/3
1-146672962-T-C FMO5 c.955A>G p.Arg319Gly Missense 7/9 -
16-89613145-C-T SPG7 c.1529C>T p.Ala510Val Missense 11/17 -
18-8826164-C-G MTCL1 c.4656C>G p.His1552Gln Missense 15/17 -
18-8826164-C-T MTCL1 c.4656C>T p.His1552His Synonymous 15/17 -
1-35222995-C-G GJB5 c.64C>G p.Arg22Gly Missense 2/2 -
1-35222995-C-T GJB5 c.64C>T p.Arg22Cys Missense 2/2 -
5-640648-G-T CEP72 c.1468G>T p.Glu490* Nonsense 9/12 -
17-46054090-G-A CDK5RAP3 c.811G>A p.Asp271Asn Missense 9/14 -
9-21187362-G-A IFNA4 c.169C>T p.His57Tyr Missense 1/1 -
9-21187362-G-C IFNA4 c.169C>G p.His57Asp Missense 1/1 -
9-21187362-G-T IFNA4 c.169C>A p.His57Asn Missense 1/1 -
7-151945256-G-A KMT2C c.2263C>T p.Gln755* Nonsense 14/59 -
3-127327309-G-A MCM2 c.1186G>A p.Ala396Thr Missense 7/16 -
21-43546473-G-A UMODL1 c.3166G>A p.Val1056Met Missense 18/23 -
11-56058358-A-G OR8H1 c.181T>C p.Phe61Leu Missense 1/1 -
1-152080976-T-C TCHH c.4717A>G p.Ser1573Gly Missense 3/3 -
1-152080976-T-G TCHH c.4717A>C p.Ser1573Arg Missense 3/3 -
1-99161184-C-A SNX7 c.750C>A p.Phe250Leu Missense 5/9 -
1-99161184-C-G SNX7 c.750C>G p.Phe250Leu Missense 5/9 -
11-47712109-G-C AGBL2 c.1150C>G p.Pro384Ala Missense 10/19 -
12-122359542-G-T WDR66 c.331G>T p.Glu111* Nonsense 2/22 -
4-151749473-T-C LRBA c.5030A>G p.Asn1677Ser Missense 30/57 -
1-236749128-A-C HEATR1 c.2041T>G p.Leu681Val Missense 16/45 -
8-61748826-T-C CHD7 c.3973T>C p.Tyr1325His Missense 16/38 -
3-151045976-T-C MED12L c.2146-21871T>C - IntronicSNV - 14/42
9-136899924-T-C BRD3 c.1964A>G p.Lys655Arg Missense 11/12 -
1-58996320-C-A OMA1 c.1093G>T p.Asp365Tyr Missense 6/9 -
2-179623734-C-T TTN c.10280G>A p.Ser3427Asn Missense 44/312 -
16-74447510-G-A CLEC18B c.521C>T p.Ala174Val Missense 4/13 -
19-9048281-G-T MUC16 c.33350C>A p.Thr11117Asn Missense 5/84 -
12-54756641-T-C GPR84 c.995A>G p.Tyr332Cys Missense 2/2 -
6-26446011-G-A BTN3A3 c.513G>A p.Trp171* Nonsense 5/11 -
1-31897692-C-G SERINC2 c.376C>G p.Arg126Gly Missense 3/10 -
1-110146113-G-A GNAT2 c.928C>T p.Leu310Phe Missense 8/8 -
19-4538472-C-T LRG1 c.524G>A p.Arg175His Missense 2/2 -
2-29084010-C-G TRMT61B c.967G>C p.Asp323His Missense 3/7 -
14-23371570-G-T RBM23 c.952C>A p.Arg318Arg Synonymous 11/14 -
19-41600254-C-A CYP2A13 c.1078C>A p.Gln360Lys Missense 7/9 -
2-28821560-G-A PLB1 c.2374G>A p.Val792Met Missense 34/57 -
2-28821560-G-T PLB1 c.2374G>T p.Val792Leu Missense 34/57 -
3-195507733-C-T MUC4 c.10718G>A p.Ser3573Asn Missense 2/25 -
6-90077873-C-G RRAGD c.1105G>C p.Glu369Gln Missense 7/7 -
2-74040948-A-G C2orf78 c.442A>G p.Thr148Ala Missense 2/3 -
11-134073605-C-A NCAPD3 c.1412G>T p.Cys471Phe Missense 11/35 -
3-130188161-A-G COL6A5 c.7313A>G p.Tyr2438Cys Missense 38/40 -
11-134073605-C-T NCAPD3 c.1412G>A p.Cys471Tyr Missense 11/35 -
6-24476431-T-C GPLD1 c.308A>G p.Asn103Ser Missense 4/25 -
1-109794593-C-T CELSR2 c.1892C>T p.Thr631Met Missense 1/34 -
9-33798042-G-C PRSS3 c.416G>C p.Cys139Ser Missense 3/5 -
3-130188161-A-C COL6A5 c.7313A>C p.Tyr2438Ser Missense 38/40 -
19-56599452-G-C ZNF787 c.1089C>G p.Asp363Glu Missense 3/3 -
19-15234344-G-A ILVBL c.179C>T p.Ala60Val Missense 3/16 -
19-56599452-G-A ZNF787 c.1089C>T p.Asp363Asp Synonymous 3/3 -
22-43576914-C-A TTLL12 c.380G>T p.Arg127Leu Missense 3/14 -
22-43576914-C-T TTLL12 c.380G>A p.Arg127His Missense 3/14 -
11-65147013-C-T SLC25A45 c.173G>A p.Gly58Glu Missense 5/7 -
3-195511465-G-C MUC4 c.6986C>G p.Ala2329Gly Missense 2/25 -
17-39680396-A-C KRT19 c.947T>G p.Met316Arg Missense 5/6 -
5-140307271-A-G PCDHAC1 c.794A>G p.Asn265Ser Missense 1/4 -
12-55357640-T-A TESPA1 c.541A>T p.Ile181Leu Missense 8/11 -
2-120204460-G-A SCTR c.1015C>T p.Arg339Cys Missense 11/13 -
6-38818036-C-T DNAH8 c.5209C>T p.Arg1737Cys Missense 38/93 -
17-39643230-G-A KRT36 c.1180C>T p.Arg394Cys Missense 6/7 -
1-94528142-A-C ABCA4 c.1928T>G p.Val643Gly Missense 13/50 -
17-39643230-G-C KRT36 c.1180C>G p.Arg394Gly Missense 6/7 -
17-10415792-C-T MYH1 c.1080G>A p.Met360Ile Missense 12/40 -
12-70065214-T-G BEST3 c.455A>C p.Gln152Pro Missense 5/6 -
17-80045629-T-C FASN c.2975A>G p.Lys992Arg Missense 19/43 -
19-22941111-T-G ZNF99 c.1600A>C p.Lys534Gln Missense 4/4 -
2-219000000-G-A CXCR2 c.476G>A p.Arg159His Missense 3/3 -
12-52793896-G-T KRT82 c.815C>A p.Ser272* Nonsense 5/9 -
1-202128421-C-T PTPN7 c.425G>A p.Arg142Gln Missense 2/10 -
1-202128421-C-G PTPN7 c.425G>C p.Arg142Pro Missense 2/10 -
7-143956006-G-C OR2A7 c.716C>G p.Thr239Ser Missense 1/1 -
9-20413729-G-A MLLT3 c.1115C>T p.Ser372Phe Missense 5/11 -
9-20413729-G-C MLLT3 c.1115C>G p.Ser372Cys Missense 5/11 -
12-112182585-A-T ACAD10 c.1853A>T p.Tyr618Phe Missense 13/21 -
1-43675513-C-T CFAP57 c.1855C>T p.Arg619Cys Missense 11/11 -
10-46250545-A-T WASHC2C c.1402A>T p.Ser468Cys Missense 15/29 -
12-112182585-A-G ACAD10 c.1853A>G p.Tyr618Cys Missense 13/21 -
5-140589614-G-C PCDHB12 c.1135G>C p.Gly379Arg Missense 1/1 -
11-1093393-G-A MUC2 c.12628G>A - missense_variant 32/51 -
11-56143274-A-G OR8U1 c.175A>G p.Met59Val Missense 1/1 -
12-48090135-T-C RPAP3 c.469A>G p.Thr157Ala Missense 5/17 -
1-152277622-G-C FLG c.9740C>G p.Ser3247* Nonsense 3/3 -
10-133769275-G-C PPP2R2D c.1313G>C - missense_variant 7/7 -
10-133769275-G-T PPP2R2D c.1313G>T - missense_variant 7/7 -
6-10874806-T-C GCM2 c.943A>G p.Asn315Asp Missense 5/5 -
4-187540040-C-T FAT1 c.7700G>A p.Arg2567His Missense 10/27 -
1-62739433-C-T KANK4 c.1343G>A p.Arg448Gln Missense 3/10 -
19-50391023-T-G TBC1D17 c.1591T>G p.Cys531Gly Missense 15/17 -
19-50391023-T-C TBC1D17 c.1591T>C p.Cys531Arg Missense 15/17 -
7-45148545-T-G TBRG4 c.292A>C p.Asn98His Missense 2/9 -
19-19218779-C-T SLC25A42 c.574C>T p.Pro192Ser Missense 7/8 -
1-207286467-C-A C4BPA c.97C>A p.Leu33Ile Missense 2/12 -
1-207286467-C-G C4BPA c.97C>G p.Leu33Val Missense 2/12 -
19-17396325-G-A ANKLE1 c.1624G>A p.Gly542Ser Missense 8/9 -
19-17396325-G-C ANKLE1 c.1624G>C p.Gly542Arg Missense 8/9 -
X-69563562-G-T KIF4A c.1276G>T p.Ala426Ser Missense 12/31 -
8-70498702-C-T SULF1 c.523C>T p.Arg175Cys Missense 7/23 -
14-19553451-C-T POTEG c.35C>T p.Ser12Phe Missense 1/11 -
16-88931970-C-A PABPN1L c.459+1G>T - IntronicSNV - 3/6
16-20570613-T-C ACSM2B c.334A>G p.Met112Val Missense 4/15 -
22-42263057-C-T SREBF2 c.311C>T p.Ala104Val Missense 2/19 -
2-43937434-C-G PLEKHH2 c.2179C>G p.Leu727Val Missense 13/30 -
13-114077172-C-T ADPRHL1 c.1030G>A p.Ala344Thr Missense 7/7 -
15-89864088-G-A POLG c.2890C>T p.Arg964Cys Missense 18/23 -
11-36614561-G-T RAG2 c.1158C>A p.Phe386Leu Missense 2/2 -
17-28505192-A-C NSRP1 c.275A>C p.Lys92Thr Missense 4/7 -
12-18891703-C-A CAPZA3 c.501C>A p.Asn167Lys Missense 1/1 -
22-46790142-G-A CELSR1 c.5861C>T p.Pro1954Leu Missense 14/35 -
5-169111233-C-T DOCK2 c.640C>T p.Arg214Trp Missense 8/52 -
17-48431214-G-A XYLT2 c.359G>A p.Arg120His Missense 2/11 -
6-46988476-G-A ADGRF1 c.602C>T p.Thr201Ile Missense 7/15 -
19-22941111-T-C ZNF99 c.1600A>G p.Lys534Glu Missense 4/4 -
11-76371946-C-G LRRC32 c.691G>C p.Glu231Gln Missense 3/3 -
19-49703585-C-T TRPM4 c.2674C>T p.Arg892Cys Missense 18/25 -
12-50561046-A-G CERS5 c.35T>C p.Leu12Pro Missense 1/10 -
1-26356156-G-A EXTL1 c.939G>A p.Trp313* Nonsense 3/11 -
1-21924946-T-C RAP1GAP c.1826A>G p.Tyr609Cys Missense 22/25 -
2-132021709-C-T POTEE c.2681C>T p.Thr894Ile Missense 15/15 -
2-31593316-C-A XDH c.1885G>T p.Val629Phe Missense 18/36 -
9-34255988-A-C KIF24 c.3617T>G p.Leu1206Arg Missense 11/13 -
3-10331519-C-T GHRL c.152G>A p.Arg51Gln Missense 4/6 -
2-31593316-C-T XDH c.1885G>A p.Val629Ile Missense 18/36 -
1-171173107-G-T FMO2 c.731G>T p.Arg244Leu Missense 6/9 -
21-47931447-G-T DIP2A c.1022G>T p.Arg341Leu Missense 8/38 -
7-151859899-G-A KMT2C c.10763C>T p.Ser3588Leu Missense 43/59 -
5-140794814-C-T PCDHGB4 c.2397+24966C>T - IntronicSNV - 1/3
12-527789-C-T CCDC77 c.400C>T p.Arg134* Nonsense 5/13 -
4-1657150-G-C FAM53A c.437C>G p.Thr146Ser Missense 4/5 -
11-55032663-T-C TRIM48 c.332T>C p.Ile111Thr Missense 2/6 -
17-6979331-A-G CLEC10A c.412T>C p.Cys138Arg Missense 6/9 -
2-31593316-C-G XDH c.1885G>C p.Val629Leu Missense 18/36 -
3-51907870-C-T IQCF5 c.326G>A p.Arg109His Missense 2/2 -
X-46360125-C-T ZNF674 c.899G>A p.Arg300Gln Missense 6/6 -
6-32557446-G-C HLA-DRB1 c.74C>G p.Pro25Arg Missense 1/6 -
5-176025287-C-G GPRIN1 c.1549G>C p.Gly517Arg Missense 2/2 -
12-124317700-T-C DNAH10 c.4231T>C p.Phe1411Leu Missense 26/78 -
14-23866269-C-T MYH6 c.2071G>A p.Val691Ile Missense 18/39 -
6-116446613-A-C COL10A1 c.43T>G p.Leu15Val Missense 2/3 -
19-55831502-G-A TMEM150B c.229C>T p.Leu77Phe Missense 6/8 -
19-56539284-G-A NLRP5 c.1685G>A p.Arg562His Missense 7/15 -
16-5046919-C-G SEC14L5 c.844C>G p.Arg282Gly Missense 8/16 -
14-24619652-C-T RNF31 c.1192C>T p.Leu398Phe Missense 7/21 -
16-5046919-C-T SEC14L5 c.844C>T p.Arg282Trp Missense 8/16 -
11-1266479-G-A MUC5B c.8369G>A p.Gly2790Glu Missense 31/49 -
11-1266479-G-T MUC5B c.8369G>T p.Gly2790Val Missense 31/49 -
22-36691052-G-A MYH9 c.3556C>T p.Gln1186* Nonsense 27/41 -
7-33427746-C-A BBS9 c.2000C>A p.Thr667Asn Missense 18/22 -
19-50367485-T-A PNKP c.587A>T p.Tyr196Phe Missense 6/17 -
2-6990069-C-T CMPK2 c.1262G>A p.Gly421Asp Missense 5/5 -
7-64864143-T-A ZNF92 c.1116T>A p.Asp372Glu Missense 4/4 -
3-195474138-A-G MUC4 c.16148T>C p.Leu5383Pro Missense 25/25 -
4-8235241-G-A SH3TC1 c.3282+1G>A - IntronicSNV - 14/17
4-88537197-A-G DSPP c.3383A>G p.Asp1128Gly Missense 5/5 -
8-17478577-G-A PDGFRL c.371G>A p.Arg124His Missense 4/7 -
6-80203376-T-C LCA5 c.812A>G p.Asn271Ser Missense 5/9 -
3-47318830-C-T KIF9 c.35G>A p.Arg12His Missense 3/22 -
11-113607367-C-G ZW10 c.2194G>C p.Ala732Pro Missense 15/16 -
14-31771546-G-A HEATR5A c.5419C>T p.Leu1807Phe Missense 33/36 -
19-15807728-G-A CYP4F12 c.1408G>A p.Gly470Arg Missense 13/13 -
19-15807728-G-C CYP4F12 c.1408G>C p.Gly470Arg Missense 13/13 -
11-66358182-G-A CCDC87 c.2305C>T p.Arg769* Nonsense 1/1 -
6-51889483-G-A PKHD1 c.5125C>T p.Leu1709Phe Missense 32/67 -
6-51889483-G-C PKHD1 c.5125C>G p.Leu1709Val Missense 32/67 -
1-208257789-C-T PLXNA2 c.2234G>A p.Gly745Glu Missense 10/32 -
X-153690631-G-A PLXNA3 c.1298G>A p.Arg433His Missense 4/33 -
14-20692353-T-C OR11H6 c.485T>C p.Leu162Pro Missense 1/1 -
8-126021283-A-G SQLE c.893A>G p.Asn298Ser Missense 5/11 -
8-126021283-A-T SQLE c.893A>T p.Asn298Ile Missense 5/11 -
10-49968432-G-T WDFY4 c.2500G>T p.Val834Leu Missense 13/62 -
19-40392496-C-T FCGBP c.8008G>A p.Gly2670Arg Missense 16/36 -
19-12429782-G-A ZNF563 c.1057C>T p.Arg353* Nonsense 4/4 -
3-138193195-G-T ESYT3 c.2468+1G>T - IntronicSNV - 20/22
3-138193195-G-A ESYT3 c.2468+1G>A - IntronicSNV - 20/22
2-120834823-G-A EPB41L5 c.645G>A p.Gln215Gln Synonymous 9/25 -
2-120834823-G-C EPB41L5 c.645G>C p.Gln215His Missense 9/25 -
9-123785738-G-T C5 c.1060C>A p.Leu354Met Missense 10/41 -
11-56511025-T-C OR9G4 c.263A>G p.Tyr88Cys Missense 1/1 -
6-32014101-G-A TNXB c.10451C>T p.Thr3484Met Missense 31/44 -
6-32014101-G-C TNXB c.10451C>G p.Thr3484Arg Missense 31/44 -
6-32014101-G-T TNXB c.10451C>A p.Thr3484Lys Missense 31/44 -
4-169299603-C-T DDX60L c.4387G>A p.Val1463Met Missense 33/38 -
6-32497905-G-C HLA-DRB5 c.97C>G p.Arg33Gly Missense 1/6 -
19-42224098-G-A CEACAM5 c.1742G>A p.Arg581His Missense 7/10 -
8-133885382-C-T TG c.554C>T p.Ala185Val Missense 5/48 -
3-112991493-G-A BOC c.904G>A p.Asp302Asn Missense 7/20 -
3-194790454-G-A XXYLT1 c.1172C>T p.Pro391Leu Missense 4/4 -
11-1269965-C-A MUC5B c.11855C>A p.Thr3952Asn Missense 31/49 -
4-84518066-G-C GPAT3 c.910G>C p.Gly304Arg Missense 8/12 -
4-84518066-G-A GPAT3 c.910G>A p.Gly304Arg Missense 8/12 -
20-1212260-T-A RAD21L1 c.365T>A p.Met122Lys Missense 4/14 -
X-49846497-G-A CLCN5 c.716G>A p.Arg239His Missense 6/12 -
19-53770879-G-A VN1R4 c.40C>T p.Gln14* Nonsense 1/1 -
19-22847688-C-T ZNF492 c.1217C>T p.Ser406Leu Missense 4/4 -
2-204073435-G-A NBEAL1 c.7495G>A p.Gly2499Ser Missense 51/55 -
1-205495233-C-T CDK18 c.497C>T p.Thr166Met Missense 6/16 -
2-158978085-C-T UPP2 c.619C>T p.Pro207Ser Missense 5/7 -
18-56964146-A-T CPLX4 c.267T>A p.Asp89Glu Missense 3/3 -
6-161071463-G-C LPA c.116C>G p.Thr39Arg Missense 2/39 -
6-161071463-G-A LPA c.116C>T p.Thr39Met Missense 2/39 -
7-116340177-G-A MET c.1039G>A p.Ala347Thr Missense 2/21 -
7-116340177-G-T MET c.1039G>T p.Ala347Ser Missense 2/21 -
2-158156095-A-C GALNT5 c.2033A>C p.Asp678Ala Missense 6/10 -
8-37732333-G-A RAB11FIP1 c.1322C>T p.Thr441Met Missense 3/5 -
16-87925430-T-C CA5A c.749A>G p.Glu250Gly Missense 6/7 -
5-36049244-A-G UGT3A2 c.590T>C p.Phe197Ser Missense 4/7 -
15-45388079-G-A DUOX2 c.4027C>T p.Leu1343Phe Missense 30/34 -
19-46181024-T-G GIPR c.911T>G p.Leu304Arg Missense 10/14 -
19-44585249-T-C ZNF284 c.97T>C p.Tyr33His Missense 3/5 -
17-43922716-C-G SPPL2C c.444C>G p.Ile148Met Missense 1/1 -
17-27958172-G-T SSH2 c.3959C>A p.Thr1320Asn Missense 15/15 -
22-37866063-G-A MFNG c.904C>T p.Arg302Cys Missense 8/8 -
1-209849340-A-G G0S2 c.311A>G - Missense 2/2 -
7-63538544-T-C ZNF727 c.1117T>C p.Cys373Arg Missense 4/4 -
17-15642057-G-A TBC1D26 c.410G>A p.Arg137Lys Missense 8/15 -
12-6127833-T-C VWF c.4751A>G p.Tyr1584Cys Missense 28/52 -
2-179588813-C-T TTN c.17441G>A p.Gly5814Asp Missense 70/312 -
12-57441459-G-C MYO1A c.277C>G p.Arg93Gly Missense 4/28 -
22-31658205-C-T LIMK2 c.574C>T p.Arg192Cys Missense 5/15 -
10-7213927-C-T SFMBT2 c.2345G>A p.Arg782His Missense 19/21 -
15-58971445-T-C ADAM10 c.362A>G p.Asp121Gly Missense 4/16 -
11-2443430-A-G TRPM5 c.239T>C p.Met80Thr Missense 2/24 -
16-2028044-G-A TBL3 c.2044G>A p.Val682Met Missense 19/22 -
2-132249560-G-C MZT2A c.208C>G p.Leu70Val Missense 2/3 -
5-205939-C-T CCDC127 c.256G>A p.Ala86Thr Missense 3/3 -
17-56772522-G-A RAD51C c.376G>A p.Ala126Thr Missense 2/9 -
5-205939-C-A CCDC127 c.256G>T p.Ala86Ser Missense 3/3 -
2-131414410-G-C POTEJ c.2077G>C p.Val693Leu Missense 15/15 -
1-206772388-T-C EIF2D c.1261A>G p.Lys421Glu Missense 11/15 -
6-52138549-C-T MCM3 c.1402G>A - missense_variant 9/16 -
14-47770643-A-T MDGA2 c.-499T>A - 5_prime_UTR_variant 2/17 -
12-18234381-A-G RERGL c.362T>C p.Val121Ala Missense 6/6 -
3-108218302-G-A MYH15 c.584C>T p.Thr195Ile Missense 6/42 -
7-44573443-G-A NPC1L1 c.2176C>T p.Arg726Trp Missense 7/20 -
17-29161517-G-A ATAD5 c.418G>A p.Asp140Asn Missense 2/23 -
16-67034867-C-G CES4A c.510C>G p.His170Gln Missense 4/12 -
16-1262118-G-C CACNA1H c.4739G>C p.Arg1580Pro Missense 25/34 -
16-1262118-G-A CACNA1H c.4739G>A p.Arg1580His Missense 25/34 -
10-115374621-C-T NRAP c.3058G>A p.Ala1020Thr Missense 27/41 -
11-116707044-A-T APOA1 c.284T>A p.Phe95Tyr Missense 4/4 -
18-50683828-C-G DCC c.1364C>G p.Ala455Gly Missense 8/29 -
11-55371817-T-C OR4C11 c.33A>G p.Ile11Met Missense 1/1 -
7-34118597-G-A BMPER c.1207G>A p.Val403Met Missense 13/16 -
14-76644266-C-T GPATCH2L c.1053-65C>T - IntronicSNV - 6/9
11-123753867-C-A TMEM225 c.656G>T p.Arg219Leu Missense 4/4 -
11-123753867-C-T TMEM225 c.656G>A p.Arg219His Missense 4/4 -
17-79683077-G-A SLC25A10 c.416G>A p.Arg139His Missense 5/11 -
20-1559120-G-T SIRPB1 c.297C>A p.Asn99Lys Missense 2/6 -
20-55027464-C-G CASS4 c.1232C>G p.Ser411Cys Missense 5/6 -
2-135757586-C-T MAP3K19 c.236-1G>A - IntronicSNV - 3/9
3-38743419-C-T SCN10A c.4568G>A p.Cys1523Tyr Missense 26/27 -
11-71249529-G-A KRTAP5-8 c.428G>A p.Cys143Tyr Missense 1/1 -
X-153206946-G-T RENBP c.930C>A p.Asn310Lys Missense 8/11 -
9-69247573-C-T CBWD6 c.439G>A p.Ala147Thr Missense 5/15 -
11-92623798-G-A FAT3 c.13193G>A p.Gly4398Asp Missense 25/25 -
9-712567-G-A KANK1 c.1801G>A p.Glu601Lys Missense 3/12 -
19-5844228-C-T FUT3 c.623G>A p.Arg208His Missense 3/3 -
16-2158680-C-T PKD1 c.6488G>A p.Arg2163Gln Missense 15/46 -
16-2158680-C-A PKD1 c.6488G>T p.Arg2163Leu Missense 15/46 -
4-57164405-C-T KIAA1211 c.10C>T p.Arg4Trp Missense 4/11 -
1-70881670-C-A CTH c.200C>A p.Thr67Asn Missense 2/12 -
5-167990955-G-A PANK3 c.751C>T p.Arg251Cys Missense 4/7 -
21-40619680-G-A BRWD1 c.2428C>T p.Arg810Cys Missense 21/41 -
21-40619680-G-T BRWD1 c.2428C>A p.Arg810Ser Missense 21/41 -
18-9887371-C-A TXNDC2 c.694C>A p.Leu232Ile Missense 2/2 -
6-116574977-A-C TSPYL4 c.195T>G p.Asp65Glu Missense 1/1 -
2-159166142-C-T CCDC148 c.913G>A p.Glu305Lys Missense 9/14 -
12-54756701-G-A GPR84 c.935C>T p.Ser312Leu Missense 2/2 -
11-5173229-C-A OR52A1 c.371G>T p.Arg124Leu Missense 1/1 -
7-151970859-C-T KMT2C c.943G>A p.Gly315Ser Missense 7/59 -
7-151970859-C-A KMT2C c.943G>T p.Gly315Cys Missense 7/59 -
16-70286740-C-T AARS c.2791G>A p.Gly931Ser Missense 21/21 -
2-27353509-A-G ABHD1 c.1115A>G p.Tyr372Cys Missense 9/9 -
4-6612871-C-T MAN2B2 c.2429C>T p.Thr810Met Missense 15/19 -
2-128939711-G-A UGGT1 c.4091G>A p.Arg1364Gln Missense 37/41 -
13-76423398-A-G LMO7 c.3488A>G p.Glu1163Gly Missense 26/30 -
2-242078094-G-A PASK c.716C>T p.Ser239Leu Missense 5/18 -
1-236749128-A-G HEATR1 c.2041T>C p.Leu681Leu Synonymous 16/45 -
10-51853633-C-G WASHC2A c.1136C>G p.Thr379Arg Missense 13/31 -
11-34129779-C-T NAT10 c.7C>T p.Arg3Trp Missense 2/29 -
11-65061679-G-C POLA2 c.1300G>C p.Val434Leu Missense 14/18 -
11-65061679-G-A POLA2 c.1300G>A p.Val434Met Missense 14/18 -
16-28604816-T-TT SULT1A2 c.446_446dup p.Tyr149*fs*1 Nonsense 5/8 -
17-6663899-G-T XAF1 c.400G>T p.Glu134* Nonsense 4/7 -
1-203192681-T-G CHIT1 c.422A>C p.Tyr141Ser Missense 5/11 -
15-41021729-C-G RAD51 c.671C>G p.Ala224Gly Missense 8/10 -
15-72958366-T-C GOLGA6B c.1851T>C p.His617His Synonymous 17/18 -
9-13150558-A-C MPDZ c.3582T>G p.Ser1194Arg Missense 25/46 -
14-68029286-C-T PLEKHH1 c.938C>T p.Pro313Leu Missense 7/29 -
16-3714439-G-C TRAP1 c.1405C>G p.Arg469Gly Missense 13/18 -
22-47086093-T-C CERK c.1337A>G p.Asp446Gly Missense 12/13 -
1-1277179-C-T DVL1 c.473G>A p.Arg158Gln Missense 5/15 -
18-28991146-C-T DSG4 c.2138-48C>T - IntronicSNV - 14/15
18-28991146-C-A DSG4 c.2138-48C>A - IntronicSNV - 14/15
1-200539111-T-C KIF14 c.3589A>G p.Arg1197Gly Missense 23/30 -
12-109954670-G-A UBE3B c.2057G>A p.Arg686His Missense 19/28 -
19-49206736-C-T FUT2 c.523C>T p.Arg175Trp Missense 2/2 -
19-49206736-C-G FUT2 c.523C>G p.Arg175Gly Missense 2/2 -
1-214820457-A-C CENPF c.7544A>C p.Gln2515Pro Missense 13/20 -
6-155503390-G-A TIAM2 c.2738G>A p.Arg913His Missense 12/26 -
7-151878292-T-G KMT2C c.6653A>C p.Tyr2218Ser Missense 36/59 -
10-7765529-A-T ITIH2 c.983A>T p.Gln328Leu Missense 9/21 -
20-35632140-C-G RBL1 c.3001G>C p.Ala1001Pro Missense 21/22 -
11-55587587-C-T OR5D18 c.482C>T p.Thr161Met Missense 1/1 -
11-55587587-C-A OR5D18 c.482C>A p.Thr161Lys Missense 1/1 -
1-207890884-G-A CR1L c.1490G>A p.Gly497Glu Missense 11/12 -
13-20279800-A-G PSPC1 c.1386+2T>C - IntronicSNV - 9/9
17-650739-A-G GEMIN4 c.544T>C p.Phe182Leu Missense 2/2 -
13-95118870-C-T DCT c.638G>A p.Gly213Glu Missense 3/10 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
2-162875278-A-G DPP4 c.1381T>C p.Phe461Leu Missense 16/26 -
16-46638219-T-A SHCBP1 c.844A>T p.Met282Leu Missense 6/13 -
2-85628704-C-T CAPG c.299G>A p.Gly100Asp Missense 4/10 -
2-234371307-G-A DGKD c.2980G>A p.Val994Ile Missense 25/29 -
17-11597744-A-C DNAH9 c.4852A>C p.Asn1618His Missense 22/69 -
20-10625624-C-T JAG1 c.2231G>A p.Arg744Gln Missense 18/26 -
19-44661962-G-T ZNF234 c.1793G>T p.Cys598Phe Missense 6/6 -
11-4967964-C-A OR51A4 c.367G>T p.Asp123Tyr Missense 1/1 -
11-4967964-C-G OR51A4 c.367G>C p.Asp123His Missense 1/1 -
2-43968094-C-T PLEKHH2 c.3133C>T p.Leu1045Phe Missense 21/30 -
16-30123523-C-A GDPD3 c.503G>T p.Arg168Leu Missense 6/10 -
11-124180643-G-T OR8D1 c.20C>A p.Ser7Tyr Missense 1/1 -
4-100240016-A-G ADH1B c.46T>C p.Trp16Arg Missense 2/9 -
1-152187588-C-T HRNR c.6517G>A p.Gly2173Ser Missense 3/3 -
19-15784370-C-T CYP4F12 c.31C>T p.Leu11Phe Missense 2/13 -
3-52857988-C-G ITIH4 c.1204G>C p.Val402Leu Missense 10/24 -
12-80735746-C-T OTOGL c.5042C>T p.Pro1681Leu Missense 43/58 -
16-30123523-C-T GDPD3 c.503G>A p.Arg168His Missense 6/10 -
11-92577352-G-A FAT3 c.10819G>A p.Ala3607Thr Missense 18/25 -
1-167734930-G-A MPZL1 c.202G>A p.Gly68Arg Missense 2/5 -
1-167734930-G-C MPZL1 c.202G>C p.Gly68Arg Missense 2/5 -
1-27223977-G-A GPATCH3 c.691C>T p.Arg231Cys Missense 2/7 -
1-240371414-C-T FMN2 c.3302C>T p.Pro1101Leu Missense 5/18 -
11-621883-C-G CDHR5 c.334G>C p.Val112Leu Missense 4/15 -
14-51224551-A-T NIN c.3197T>A p.Val1066Asp Missense 18/30 -
9-33798042-G-A PRSS3 c.416G>A p.Cys139Tyr Missense 3/5 -
1-231335934-G-A TRIM67 c.1304G>A p.Arg435His Missense 4/10 -
1-161723013-T-A DUSP12 c.823T>A p.Trp275Arg Missense 5/6 -
17-18052106-G-A MYO15A c.6796G>A p.Val2266Met Missense 33/66 -
11-621883-C-T CDHR5 c.334G>A p.Val112Met Missense 4/15 -
1-113661918-C-A LRIG2 c.2744C>A p.Thr915Asn Missense 17/18 -
1-113661918-C-T LRIG2 c.2744C>T p.Thr915Ile Missense 17/18 -
15-79059102-C-T ADAMTS7 c.3151G>A p.Glu1051Lys Missense 19/24 -
11-66029325-C-T KLC2 c.341C>T p.Ala114Val Missense 3/16 -
6-112671145-C-T RFPL4B c.235C>T p.Arg79* Nonsense 3/3 -
5-5303788-C-T ADAMTS16 c.3095C>T p.Ser1032Phe Missense 20/23 -
17-40318431-G-A KCNH4 c.1724C>T p.Ser575Leu Missense 10/17 -
2-102644771-C-T IL1R2 c.1114C>T p.Arg372Trp Missense 9/9 -
13-29287326-C-T SLC46A3 c.551G>A p.Gly184Glu Missense 3/6 -
13-29287326-C-A SLC46A3 c.551G>T p.Gly184Val Missense 3/6 -
19-3827650-G-A ZFR2 c.854C>T p.Thr285Ile Missense 6/19 -
15-90764249-G-A SEMA4B c.519G>A p.Lys173Lys Synonymous 5/14 -
15-90764249-G-C SEMA4B c.519G>C p.Lys173Asn Missense 5/14 -
4-120422353-A-G PDE5A c.2462T>C p.Ile821Thr Missense 20/21 -
1-63270864-C-T ATG4C c.98C>T p.Thr33Met Missense 3/11 -
19-50017538-G-C FCGRT c.396G>C p.Lys132Asn Missense 4/7 -
8-116632015-G-A TRPS1 c.310C>T p.Pro104Ser Missense 3/7 -
19-41355876-G-A CYP2A6 c.190C>T p.Arg64Cys Missense 2/9 -
19-41355876-G-T CYP2A6 c.190C>A p.Arg64Ser Missense 2/9 -
3-38663892-C-A SCN5A c.481G>T p.Glu161* Nonsense 4/28 -
3-38663892-C-G SCN5A c.481G>C p.Glu161Gln Missense 4/28 -
3-38663892-C-T SCN5A c.481G>A p.Glu161Lys Missense 4/28 -
13-113783895-C-T F10 c.200C>T p.Ala67Val Missense 2/8 -
19-11486354-C-A SWSAP1 c.352C>A p.Leu118Ile Missense 2/2 -
1-89655720-C-T GBP4 c.1197+1G>A - IntronicSNV - 7/10
19-11486354-C-T SWSAP1 c.415C>T - missense_variant 2/2 -
3-108672558-C-A GUCA1C c.52G>T p.Glu18* Nonsense 1/4 -
19-2078238-G-A MOB3A c.322C>T p.Arg108Trp Missense 3/5 -
1-171173107-G-A FMO2 c.731G>A p.Arg244His Missense 6/9 -
8-30948045-A-C WRN c.1717A>C p.Thr573Pro Missense 14/35 -
3-97887833-G-A OR5H15 c.290G>A p.Cys97Tyr Missense 1/1 -
8-30948045-A-G WRN c.1717A>G p.Thr573Ala Missense 14/35 -
8-17478577-G-T PDGFRL c.371G>T p.Arg124Leu Missense 4/7 -
1-206650040-G-A IKBKE c.305G>A p.Arg102Gln Missense 6/21 -
18-43212334-C-A SLC14A2 c.541C>A p.Leu181Ile Missense 6/21 -
10-48389841-C-T RBP3 c.1037G>A p.Arg346His Missense 1/4 -
5-140501759-C-T PCDHB4 c.179C>T p.Ser60Phe Missense 1/1 -
4-114279628-T-C ANK2 c.9854T>C p.Ile3285Thr Missense 38/46 -
3-195511081-G-T MUC4 c.7370C>A p.Ala2457Glu Missense 2/25 -
3-195511081-G-A MUC4 c.7370C>T p.Ala2457Val Missense 2/25 -
7-134678327-C-T AGBL3 c.208C>T p.Arg70Cys Missense 4/17 -
15-40477831-G-A BUB1B c.1046G>A p.Arg349Gln Missense 8/23 -
19-33878884-T-C PEPD c.1256A>G p.Asp419Gly Missense 14/15 -
1-152187276-C-T HRNR c.6829G>A p.Gly2277Ser Missense 3/3 -
2-63101587-C-G EHBP1 c.1210C>G p.Pro404Ala Missense 11/25 -
5-169021633-A-G SPDL1 c.839A>G p.Gln280Arg Missense 7/12 -
9-120476456-G-T TLR4 c.2050G>T p.Asp684Tyr Missense 3/3 -
2-167141294-C-T SCN9A c.1643G>A p.Arg548Gln Missense 12/27 -
17-16203203-G-T PIGL c.337G>T p.Asp113Tyr Missense 3/7 -
22-16267050-G-T POTEH c.1399C>A p.Pro467Thr Missense 9/11 -
19-9048281-G-A MUC16 c.33350C>T p.Thr11117Ile Missense 5/84 -
19-54745659-G-C LILRA6 c.451C>G p.His151Asp Missense 4/8 -
19-54745659-G-A LILRA6 c.451C>T p.His151Tyr Missense 4/8 -
11-5173229-C-T OR52A1 c.371G>A p.Arg124His Missense 1/1 -
2-233321379-C-G ALPI c.274C>G p.Arg92Gly Missense 3/11 -
2-233321379-C-T ALPI c.274C>T p.Arg92Cys Missense 3/11 -
10-5141642-G-A AKR1C3 c.570+1G>A - IntronicSNV - 5/8
10-5141642-G-C AKR1C3 c.570+1G>C - IntronicSNV - 5/8
8-27462662-G-A CLU c.608C>T p.Thr203Ile Missense 5/9 -
22-16267050-G-A POTEH c.1399C>T p.Pro467Ser Missense 9/11 -
5-79034658-G-A CMYA5 c.10070G>A p.Ser3357Asn Missense 2/13 -
5-79034658-G-C CMYA5 c.10070G>C p.Ser3357Thr Missense 2/13 -
1-213244366-C-A RPS6KC1 c.124C>A p.Pro42Thr Missense 2/15 -
15-20740002-T-C GOLGA6L6 c.1748A>G p.Glu583Gly Missense 10/11 -
11-1265831-T-C MUC5B c.7721T>C p.Val2574Ala Missense 31/49 -
1-213244366-C-T RPS6KC1 c.124C>T p.Pro42Ser Missense 2/15 -
10-47087498-C-A NPY4R c.715C>A p.Arg239Arg Synonymous 3/3 -
9-130911821-T-C LCN2 c.17T>C p.Leu6Pro Missense 1/7 -
10-47087498-C-T NPY4R c.715C>T p.Arg239Trp Missense 3/3 -
3-58109169-C-T FLNB c.3476C>T p.Ser1159Leu Missense 21/46 -
16-57921881-C-T CNGB1 c.3340G>A p.Ala1114Thr Missense 32/33 -
16-57921881-C-G CNGB1 c.3340G>C p.Ala1114Pro Missense 32/33 -
8-25174610-C-T DOCK5 c.1406C>T p.Thr469Met Missense 14/52 -
9-130911821-T-A LCN2 c.17T>A p.Leu6Gln Missense 1/7 -
1-152278702-T-C FLG c.8660A>G p.Gln2887Arg Missense 3/3 -
6-26189276-C-T HIST1H4D c.29G>A p.Gly10Asp Missense 1/1 -
6-152651656-C-G SYNE1 c.14164G>C p.Glu4722Gln Missense 78/146 -
6-152651656-C-T SYNE1 c.14164G>A p.Glu4722Lys Missense 78/146 -
1-45524416-G-A ZSWIM5 c.1117C>T p.Arg373Trp Missense 4/14 -
2-191792077-G-T GLS c.1294G>T p.Ala432Ser Missense 12/15 -
7-117450854-C-T CTTNBP2 c.379G>A p.Ala127Thr Missense 3/23 -
7-141736753-C-T MGAM c.2207C>T p.Thr736Met Missense 18/48 -
1-111777571-C-A CHI3L2 c.372C>A p.Phe124Leu Missense 5/11 -
17-10364373-T-C MYH4 c.1009-2A>G - IntronicSNV - 11/39
17-10364373-T-G MYH4 c.1009-2A>C - IntronicSNV - 11/39
14-71060081-C-T MED6 c.289G>A p.Asp97Asn Missense 4/8 -
2-128412068-G-C LIMS2 c.361C>G p.Pro121Ala Missense 4/10 -
2-128412068-G-A LIMS2 c.361C>T p.Pro121Ser Missense 4/10 -
15-42160751-C-T SPTBN5 c.5902G>A p.Val1968Met Missense 33/68 -
22-45608215-G-A KIAA0930 c.65-227C>T - IntronicSNV - 1/9
6-160966559-G-A LPA c.5311C>T p.Arg1771Cys Missense 33/39 -
2-103340233-C-A MFSD9 c.563G>T p.Gly188Val Missense 5/6 -
6-29910718-G-A HLA-A c.258G>A p.Gln86Gln Synonymous 2/8 -
12-11244536-A-G TAS2R43 c.293T>C p.Leu98Pro Missense 1/1 -
11-114574754-T-C NXPE2 c.908T>C p.Ile303Thr Missense 4/6 -
4-38798640-C-A TLR1 c.1813G>T p.Asp605Tyr Missense 4/4 -
4-38798640-C-T TLR1 c.1813G>A p.Asp605Asn Missense 4/4 -
16-3716025-A-G TRAP1 c.1330T>C p.Tyr444His Missense 12/18 -
16-2293191-G-A ECI1 c.547C>T p.Arg183Trp Missense 6/7 -
1-100346262-T-G AGL c.1810T>G p.Phe604Val Missense 14/34 -
2-179412307-C-T TTN c.86342G>A p.Arg28781His Missense 288/312 -
5-38407060-C-T EGFLAM c.959C>T p.Thr320Met Missense 8/22 -
6-49754822-C-A PGK2 c.79G>T p.Val27Phe Missense 1/1 -
11-65046262-G-A POLA2 c.523G>A p.Gly175Ser Missense 6/18 -
3-190578589-G-T GMNC c.62C>A p.Pro21Gln Missense 2/5 -
3-190578589-G-C GMNC c.62C>G p.Pro21Arg Missense 2/5 -
3-190578589-G-A GMNC c.62C>T p.Pro21Leu Missense 2/5 -
1-53668063-C-T CPT2 c.302C>T p.Ala101Val Missense 3/5 -
11-1093430-C-A MUC2 c.12665C>A - missense_variant 32/51 -
11-1093430-C-G MUC2 c.12665C>G - missense_variant 32/51 -
15-34825091-T-A GOLGA8B c.241A>T p.Arg81Trp Missense 11/24 -
5-40962201-A-G C7 c.1676A>G p.His559Arg Missense 13/18 -
2-170428436-C-T FASTKD1 c.104G>A p.Ser35Asn Missense 2/15 -
19-16060577-T-C OR10H4 c.760T>C p.Tyr254His Missense 1/1 -
1-64011657-A-G EFCAB7 c.875A>G p.Tyr292Cys Missense 7/14 -
9-100962566-G-A TBC1D2 c.2515C>T p.Arg839Cys Missense 12/13 -
6-7230174-C-G RREB1 c.1842C>G p.Ile614Met Missense 10/12 -
2-242051654-C-T PASK c.3533+1G>A - IntronicSNV - 15/17
5-176314737-C-A HK3 c.1315G>T p.Val439Phe Missense 11/19 -
14-23371570-G-A RBM23 c.952C>T p.Arg318Trp Missense 11/14 -
11-71189477-C-T NADSYN1 c.835C>T p.Arg279Trp Missense 10/21 -
19-59073801-G-A MZF1 c.1843C>T p.His615Tyr Missense 6/6 -
19-59073801-G-T MZF1 c.1843C>A p.His615Asn Missense 6/6 -
11-85622430-A-C CCDC83 c.779A>C p.Asp260Ala Missense 8/12 -
17-8219399-G-C ARHGEF15 c.1637G>C p.Arg546Pro Missense 9/16 -
17-8219399-G-A ARHGEF15 c.1637G>A p.Arg546Gln Missense 9/16 -
17-8219399-G-T ARHGEF15 c.1637G>T p.Arg546Leu Missense 9/16 -
6-7230174-C-T RREB1 c.1842C>T p.Ile614Ile Synonymous 10/12 -
22-19263266-C-A CLTCL1 c.130G>T p.Val44Phe Missense 2/33 -
20-10393406-A-G MKKS c.757T>C p.Ser253Pro Missense 3/6 -
8-110499005-C-T PKHD1L1 c.9835C>T p.Arg3279Cys Missense 59/78 -
5-176759170-C-G LMAN2 c.988G>C p.Ala330Pro Missense 8/8 -
21-45708249-C-T AIRE c.560C>T p.Ser187Leu Missense 5/14 -
22-45255688-C-T PRR5-ARHGAP8 c.1348C>T - missense_variant 14/15 -
4-4228243-G-T OTOP1 c.349C>A p.His117Asn Missense 1/6 -
19-55593837-G-A EPS8L1 c.700G>A p.Gly234Arg Missense 7/15 -
5-112174677-T-C APC c.3386T>C p.Leu1129Ser Missense 16/16 -
5-10448375-T-A ROPN1L c.135T>A p.Tyr45* Nonsense 2/5 -
11-7984946-G-A NLRP10 c.97C>T p.Arg33Trp Missense 1/2 -
1-114454061-C-T DCLRE1B c.847C>T p.Arg283Cys Missense 4/4 -
1-248722578-A-G OR2T29 c.215T>C p.Leu72Pro Missense 1/1 -
9-33385690-G-A AQP7 c.700C>T p.Arg234Cys Missense 7/8 -
10-45486414-A-G RASSF4 c.704A>G p.Asp235Gly Missense 9/11 -
3-195506387-G-T MUC4 c.12064C>A p.Pro4022Thr Missense 2/25 -
9-96860287-A-G PTPDC1 c.1433A>G p.Gln478Arg Missense 6/9 -
10-47087502-G-A NPY4R c.719G>A p.Arg240His Missense 3/3 -
3-108072387-G-T HHLA2 c.178G>T p.Val60Leu Missense 4/10 -
4-69811110-A-T UGT2A3 c.778T>A p.Trp260Arg Missense 2/6 -
4-69811110-A-C UGT2A3 c.778T>G p.Trp260Gly Missense 2/6 -
16-67208848-G-A NOL3 c.609+1G>A - IntronicSNV - 3/3
16-67208848-G-T NOL3 c.609+1G>T - IntronicSNV - 3/3
1-247769573-A-G OR2G3 c.686A>G p.Lys229Arg Missense 1/1 -
1-11106630-G-A MASP2 c.395C>T p.Ala132Val Missense 3/11 -
10-97625940-G-C ENTPD1 c.1333G>C p.Gly445Arg Missense 10/10 -
7-87005024-C-T CROT c.733C>T p.Arg245* Nonsense 8/18 -
9-35707870-A-G TLN1 c.4490T>C p.Ile1497Thr Missense 35/57 -
17-16593725-G-A CCDC144A c.11G>A p.Trp4* Nonsense 1/18 -
19-58118178-C-T ZNF530 c.1285C>T p.His429Tyr Missense 3/3 -
1-185976370-A-G HMCN1 c.4586A>G p.Asn1529Ser Missense 30/107 -
8-37968307-C-T ASH2L c.541C>T p.Arg181* Nonsense 5/16 -
8-37968307-C-G ASH2L c.541C>G p.Arg181Gly Missense 5/16 -
1-1686116-C-T NADK c.710G>A p.Arg237Gln Missense 8/12 -
5-6652043-G-A SRD5A1 c.382G>A p.Gly128Ser Missense 2/5 -
22-42525035-C-A CYP2D6 c.505G>T p.Gly169* Nonsense 3/9 -
7-150878244-G-A ASB10 c.841C>T p.Arg281* Nonsense 3/6 -
5-147207616-G-A SPINK1 c.163C>T p.Pro55Ser Missense 4/5 -
5-147207616-G-C SPINK1 c.163C>G p.Pro55Ala Missense 4/5 -
1-24123555-A-G GALE c.611T>C p.Ile204Thr Missense 7/12 -
11-56127742-C-T OR8J1 c.20C>T p.Thr7Ile Missense 1/1 -
16-55907799-G-A CES5A c.224C>T p.Pro75Leu Missense 2/12 -
17-56343598-G-A LPO c.1355G>A p.Arg452His Missense 9/11 -
1-196918738-C-T CFHR2 c.212C>T p.Thr71Met Missense 2/5 -
22-37396024-G-C TEX33 c.236C>G p.Ala79Gly Missense 4/6 -
9-84228372-G-A TLE1 c.983C>T p.Thr328Met Missense 12/20 -
12-11244017-T-G TAS2R43 c.812A>C p.Tyr271Ser Missense 1/1 -
12-11244017-T-C TAS2R43 c.812A>G p.Tyr271Cys Missense 1/1 -
9-27062666-G-A IFT74 c.1735G>A p.Val579Met Missense 20/20 -
3-46621330-G-C TDGF1 c.325G>C p.Asp109His Missense 4/6 -
11-77749678-C-T NDUFC2-KCTD14 c.*32G>A - IntronicSNV 4/4 -
15-31260201-T-C MTMR10 c.487A>G p.Ile163Val Missense 6/16 -
6-30166475-C-T TRIM26 c.406G>A p.Val136Ile Missense 4/10 -
2-232393197-G-A NMUR1 c.535C>T p.Arg179Cys Missense 2/3 -
15-65239676-G-T ANKDD1A c.1214G>T p.Arg405Leu Missense 13/15 -
3-49848255-C-A UBA7 c.1241G>T p.Arg414Leu Missense 11/24 -
3-49848255-C-G UBA7 c.1241G>C p.Arg414Pro Missense 11/24 -
3-49848255-C-T UBA7 c.1241G>A p.Arg414His Missense 11/24 -
15-28234746-C-T OCA2 c.1182+1G>A - IntronicSNV - 11/23
17-1792132-G-A RPA1 c.1538G>A p.Arg513His Missense 14/17 -
9-69423550-G-T ANKRD20A4 c.1846G>T p.Ala616Ser Missense 15/15 -
16-2523469-G-T NTN3 c.1358G>T p.Arg453Leu Missense 5/6 -
22-42525035-C-T CYP2D6 c.505G>A p.Gly169Arg Missense 3/9 -
1-248084629-A-T OR2T8 c.310A>T p.Thr104Ser Missense 1/1 -
2-48809385-G-T STON1-GTF2A1L c.1613G>T p.Gly538Val Missense 2/11 -
1-7887262-G-A PER3 c.2249G>A p.Ser750Asn Missense 18/22 -
16-70190676-C-T PDPR c.2534C>T p.Ala845Val Missense 19/19 -
14-103969503-C-T MARK3 c.2201C>T p.Ser734Leu Missense 18/18 -
18-51863542-A-G STARD6 c.220T>C p.Trp74Arg Missense 5/8 -
18-51863542-A-T STARD6 c.220T>A p.Trp74Arg Missense 5/8 -
8-33246645-A-G FUT10 c.1048T>C p.Tyr350His Missense 4/5 -
19-15905280-G-A OR10H5 c.422G>A p.Cys141Tyr Missense 1/1 -
1-17274980-G-A CROCC c.2669G>A p.Arg890His Missense 18/37 -
9-34489429-C-T DNAI1 c.370C>T p.Arg124Cys Missense 5/20 -
21-47931447-G-A DIP2A c.1022G>A p.Arg341His Missense 8/38 -
11-56344713-A-T OR5M10 c.485T>A p.Leu162Gln Missense 1/1 -
12-63541427-T-C AVPR1A c.971-2A>G - IntronicSNV - 1/1
6-29910718-G-T HLA-A c.258G>T p.Gln86His Missense 2/8 -
6-29910718-G-C HLA-A c.258G>C p.Gln86His Missense 2/8 -
17-45915985-G-A SCRN2 c.850C>T p.Arg284Cys Missense 6/8 -
17-45915985-G-C SCRN2 c.850C>G p.Arg284Gly Missense 6/8 -
9-90321260-G-A DAPK1 c.3274G>A p.Ala1092Thr Missense 26/26 -
7-47971562-C-T PKD1L1 c.490G>A p.Ala164Thr Missense 5/57 -
19-44351815-G-T ZNF283 c.1062G>T p.Lys354Asn Missense 7/7 -
12-69263103-A-G CPM c.787+2T>C - IntronicSNV - 6/8
6-24476437-C-T GPLD1 c.302G>A p.Arg101Gln Missense 4/25 -
11-114574754-T-A NXPE2 c.908T>A p.Ile303Asn Missense 4/6 -
1-19609287-C-T AKR7A3 c.934G>A p.Val312Met Missense 7/7 -
19-44351815-G-A ZNF283 c.1062G>A p.Lys354Lys Synonymous 7/7 -
2-150432256-A-G MMADHC c.578T>C p.Val193Ala Missense 6/8 -
10-118363545-G-T PNLIPRP1 c.1067G>T p.Trp356Leu Missense 11/13 -
6-151281448-C-T MTHFD1L c.1841C>T p.Ala614Val Missense 18/28 -
1-183914681-T-A COLGALT2 c.1154A>T p.Gln385Leu Missense 9/12 -
5-42799816-C-T CCDC152 c.698C>T p.Thr233Ile Missense 9/9 -
2-88071741-G-A RGPD2 c.5183C>T p.Thr1728Met Missense 22/23 -
9-113065962-C-G TXNDC8 c.348G>C - Missense 6/6 -
22-41660751-C-G RANGAP1 c.397G>C p.Glu133Gln Missense 5/16 -
9-139266445-C-A CARD9 c.86G>T p.Arg29Leu Missense 2/13 -
9-139266445-C-T CARD9 c.86G>A p.Arg29His Missense 2/13 -
3-195487932-A-G MUC4 c.14671T>C p.Phe4891Leu Missense 16/25 -
5-40852608-C-T CARD6 c.1174C>T p.Arg392Cys Missense 3/3 -
22-41660751-C-T RANGAP1 c.397G>A p.Glu133Lys Missense 5/16 -
4-89425507-G-A HERC5 c.2707G>A p.Glu903Lys Missense 21/23 -
16-2293191-G-C ECI1 c.547C>G p.Arg183Gly Missense 6/7 -
4-87769901-A-G SLC10A6 c.368T>C p.Met123Thr Missense 1/6 -
14-20864875-G-C TEP1 c.1564C>G p.Pro522Ala Missense 10/55 -
5-174948943-C-T SFXN1 c.796C>T p.Pro266Ser Missense 9/11 -
19-2416756-G-A TMPRSS9 c.1864G>A p.Val622Met Missense 11/17 -
9-108467928-A-G TMEM38B c.163A>G p.Met55Val Missense 2/6 -
2-136537941-C-G UBXN4 c.1374C>G p.Ser458Arg Missense 12/13 -
12-108686555-A-C CMKLR1 c.185T>G p.Ile62Ser Missense 4/4 -
6-31324110-G-C HLA-B c.453C>G p.Asn151Lys Missense 3/8 -
6-31324110-G-A HLA-B c.453C>T p.Asn151Asn Synonymous 3/8 -
12-9345166-T-A PZP c.1424A>T p.His475Leu Missense 12/36 -
2-179457531-G-A TTN c.51611C>T p.Pro17204Leu Missense 249/312 -
10-26513468-G-A GAD2 c.612G>A p.Met204Ile Missense 6/17 -
9-133787218-G-A FIBCD1 c.907C>T p.Arg303* Nonsense 5/7 -
16-68397716-G-A SMPD3 c.1609C>T p.Arg537Cys Missense 6/9 -
16-14951389-G-T NOMO1 c.1097G>T p.Arg366Leu Missense 11/31 -
6-31324039-C-A HLA-B c.524G>T p.Arg175Leu Missense 3/8 -
6-158438287-C-T SYNJ2 c.179C>T p.Ala60Val Missense 2/27 -
16-55907799-G-T CES5A c.224C>A p.Pro75Gln Missense 2/12 -
14-21546455-G-A ARHGEF40 c.1-89G>A - IntronicSNV 9/24 -
13-41373319-G-A SLC25A15 c.182G>A p.Arg61His Missense 3/7 -
8-24774791-G-A NEFM c.1423G>A p.Ala475Thr Missense 3/3 -
2-179412307-C-A TTN c.86342G>T p.Arg28781Leu Missense 288/312 -
15-75977979-C-T CSPG4 c.3853G>A p.Gly1285Ser Missense 4/10 -
12-69140450-A-G SLC35E3 c.293A>G p.Asn98Ser Missense 1/5 -
6-31324110-G-T HLA-B c.453C>A p.Asn151Lys Missense 3/8 -
14-91772264-C-A CCDC88C c.3202G>T p.Ala1068Ser Missense 19/30 -
11-65629481-C-T MUS81 c.415C>T p.Arg139* Nonsense 4/16 -
10-61832027-G-A ANK3 c.8612C>T p.Ser2871Leu Missense 37/44 -
15-49627649-C-A FAM227B c.1316G>T p.Arg439Ile Missense 14/16 -
17-80367243-C-T OGFOD3 c.423+1G>A - IntronicSNV - 4/9
3-39229118-C-A XIRP1 c.1819G>T p.Ala607Ser Missense 2/2 -
5-180166899-G-A OR2Y1 c.160C>T p.Arg54Trp Missense 1/1 -
19-43414833-T-A PSG6 c.605A>T p.Tyr202Phe Missense 3/6 -
11-56510879-G-T OR9G4 c.409C>A p.Arg137Ser Missense 1/1 -
1-184764181-G-C FAM129A c.2717C>G p.Ser906* Nonsense 14/14 -
3-58116478-C-G FLNB c.4233C>G p.Phe1411Leu Missense 25/46 -
16-14951389-G-A NOMO1 c.1097G>A p.Arg366His Missense 11/31 -
9-6255967-G-C IL33 c.613-1G>C - IntronicSNV - 7/7
7-64168681-A-G ZNF107 c.1999A>G p.Lys667Glu Missense 7/7 -
16-334920-C-T PDIA2 c.583C>T p.Gln195* Nonsense 4/11 -
4-186384203-T-G CCDC110 c.116A>C p.Glu39Ala Missense 3/7 -
12-11244015-G-A TAS2R43 c.814C>T p.Pro272Ser Missense 1/1 -
15-65684513-C-T IGDCC4 c.2081G>A p.Arg694Gln Missense 11/20 -
2-120204460-G-T SCTR c.1015C>A p.Arg339Ser Missense 11/13 -
10-48426758-C-T GDF10 c.1249G>A p.Val417Ile Missense 3/3 -
1-114682286-G-A SYT6 c.208C>T p.Arg70Cys Missense 2/8 -
12-27840420-C-T PPFIBP1 c.2350C>T p.Arg784Trp Missense 25/30 -
19-51961358-C-T SIGLEC8 c.284G>A p.Arg95Gln Missense 1/7 -
5-148691681-C-G AFAP1L1 c.934C>G p.Arg312Gly Missense 9/19 -
16-57091999-G-A NLRC5 c.3769G>A p.Asp1257Asn Missense 27/48 -
4-178283446-G-T NEIL3 c.1639G>T p.Ala547Ser Missense 10/10 -
14-104433097-A-G TDRD9 c.694A>G p.Thr232Ala Missense 5/36 -
17-38856296-C-T KRT24 c.1097G>A p.Arg366His Missense 5/8 -
1-17318282-G-A ATP13A2 c.2198C>T p.Thr733Met Missense 20/29 -
3-132213034-A-G DNAJC13 c.3872A>G p.Glu1291Gly Missense 34/56 -
2-168106126-A-G XIRP2 c.8224A>G p.Thr2742Ala Missense 9/11 -
7-80302093-G-T CD36 c.1133G>T p.Gly378Val Missense 12/14 -
6-26189276-C-A HIST1H4D c.29G>T p.Gly10Val Missense 1/1 -
9-34725112-C-T FAM205A c.2125G>A p.Ala709Thr Missense 4/4 -
20-31652478-G-A BPIFB3 c.751G>A p.Val251Met Missense 8/15 -
1-16464805-C-T EPHA2 c.944G>A p.Arg315Gln Missense 4/17 -
16-14959013-G-A NOMO1 c.1669+1G>A - IntronicSNV - 14/30
X-153581714-G-A FLNA c.5972C>T p.Ser1991Leu Missense 37/48 -
1-196920053-A-G CFHR2 c.325A>G p.Thr109Ala Missense 3/5 -
19-37880227-C-A ZNF527 c.1276C>A p.Arg426Ser Missense 5/5 -
6-39282816-G-A KCNK16 c.892C>T p.Gln298* Nonsense 6/6 -
2-141081479-C-T LRP1B c.12497G>A p.Arg4166His Missense 81/91 -
7-74212518-G-A GTF2IRD2 c.1333C>T p.Pro445Ser Missense 16/16 -
X-148627258-C-T CXorf40A c.82C>T p.Arg28Cys Missense 4/5 -
14-55468812-T-A WDHD1 c.692A>T p.Gln231Leu Missense 8/26 -
11-75153470-G-A GDPD5 c.1105C>T p.Arg369Cys Missense 12/17 -
6-33693264-G-T IP6K3 c.719C>A p.Ala240Glu Missense 5/6 -
15-79059029-T-G ADAMTS7 c.3224A>C p.Asp1075Ala Missense 19/24 -
6-33693264-G-A IP6K3 c.719C>T p.Ala240Val Missense 5/6 -
1-152278702-T-G FLG c.8660A>C p.Gln2887Pro Missense 3/3 -
1-89734459-G-T GBP5 c.271C>A p.His91Asn Missense 4/12 -
15-89448988-C-T MFGE8 c.685G>A p.Gly229Arg Missense 5/8 -
3-195506597-G-A MUC4 c.11854C>T p.Pro3952Ser Missense 2/25 -
3-195506597-G-T MUC4 c.11854C>A p.Pro3952Thr Missense 2/25 -
2-179459149-G-A TTN c.50368C>T p.Arg16790Cys Missense 245/312 -
5-176314737-C-T HK3 c.1315G>A p.Val439Ile Missense 11/19 -
X-114414073-C-T LRCH2 c.781G>A p.Glu261Lys Missense 5/21 -
2-95542416-A-G TEKT4 c.1210A>G p.Ile404Val Missense 6/6 -
1-204985634-G-A NFASC c.3690G>A p.Thr1230Thr Synonymous 30/30 -
1-103354135-G-C COL11A1 c.4258C>G p.Pro1420Ala Missense 60/65 -
16-2004002-C-T RPL3L c.151G>A p.Ala51Thr Missense 2/10 -
3-48682550-C-T CELSR3 c.7890G>A p.Met2630Ile Missense 25/35 -
8-101721839-C-A PABPC1 c.1093G>T p.Val365Leu Missense 8/15 -
15-44153571-C-T WDR76 c.1603C>T p.Leu535Phe Missense 12/13 -
22-25024072-G-T GGT1 c.1361G>T p.Cys454Phe Missense 14/16 -
17-60522259-C-T METTL2A c.871C>T p.Arg291* Nonsense 7/9 -
6-39581012-C-T KIF6 c.592G>A p.Ala198Thr Missense 6/23 -
4-87653856-G-C PTPN13 c.1795G>C p.Asp599His Missense 12/47 -
4-87653856-G-T PTPN13 c.1795G>T p.Asp599Tyr Missense 12/47 -
4-187629339-C-T FAT1 c.1643G>A p.Arg548His Missense 2/27 -
4-187629339-C-A FAT1 c.1643G>T p.Arg548Leu Missense 2/27 -
19-9020059-T-C MUC16 c.37436A>G p.Glu12479Gly Missense 21/84 -
19-9020059-T-G MUC16 c.37436A>C p.Glu12479Ala Missense 21/84 -
14-51348345-G-A ABHD12B c.486+1G>A - IntronicSNV - 5/12
6-7230174-C-A RREB1 c.1842C>A p.Ile614Ile Synonymous 10/12 -