PMID: 33875650

Spatially interacting phosphorylation sites and mutations in cancer.

Nature communications
Huang, Kuan-Lin KL, Scott, Adam D AD, Zhou, Daniel Cui DC, Wang, Liang-Bo LB, Weerasinghe, Amila A, Elmas, Abdulkadir A, Liu, Ruiyang R, Wu, Yige Y, Wendl, Michael C MC, Wyczalkowski, Matthew A MA, Baral, Jessika J, Sengupta, Sohini S, Lai, Chin-Wen CW, Ruggles, Kelly K, Payne, Samuel H SH, Raphael, Benjamin B, Fenyƶ, David D, Chen, Ken K, Mills, Gordon G, Ding, Li L
2021-04-19

3006 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-152265607-C-A ESR1 c.1060C>A p.L354M Missense 4/8 -
3-178922321-G-C PIK3CA c.1090G>C p.G364R Missense 6/21 -
7-140453149-C-T BRAF c.1786G>A p.G596S Missense 15/18 -
14-23898246-C-T MYH7 c.1325G>A p.R442H Missense 14/40 -
19-10602335-G-A KEAP1 c.1243C>T p.R415C Missense 3/6 -
20-22563241-G-C FOXA2 c.639C>G p.I213M Missense 2/2 -
2-25467478-T-C DNMT3A c.1598A>G p.Y533C Missense 14/23 -
3-49405963-C-T RHOA c.175G>A p.D59N Missense 3/5 -
2-178098806-G-A NFE2L2 c.239C>T p.T80I Missense 2/5 -
2-178098803-C-G NFE2L2 c.242G>C p.G81A Missense 2/5 -
6-152419910-G-A ESR1 c.1597G>A p.V533M Missense 8/8 -
16-9943692-C-T GRIN2A c.1249G>A p.V417I Missense 5/13 -
3-41266100-T-A CTNNB1 c.97T>A p.S33T Missense 3/15 -
8-54141976-G-A OPRK1 c.1024C>T p.R342W Missense 4/4 -
8-86249258-C-G CA1 c.270G>C p.R90S Missense 4/8 -
8-86249258-C-A CA1 c.270G>T p.R90S Missense 4/8 -
21-33036177-T-G SOD1 c.147T>G p.H49Q Missense 2/5 -
15-67482855-G-A SMAD3 c.1259G>A p.R420H Missense 9/9 -
17-7578396-G-T TP53 c.534C>A p.H178Q Missense 5/11 -
8-74858968-T-A ELOC c.236A>T p.Y79F Missense 4/4 -
9-139840540-G-A C8G c.350G>A p.R117Q Missense 4/7 -
16-68842624-A-G CDH1 c.560A>G p.K187R Missense 5/16 -
19-40742001-T-C AKT2 c.971A>G p.D324G Missense 11/14 -
7-5568127-C-T ACTB c.587G>A p.R196H Missense 4/6 -
6-26156698-C-T H1-4 c.80C>T p.S27F Missense 1/1 -
7-5568978-C-G ACTB c.177G>C p.Q59H Missense 3/6 -
1-149785205-G-A H3C13 c.32C>T p.S11L Missense 1/1 -
7-5568978-C-A ACTB c.177G>T p.Q59H Missense 3/6 -
1-85736384-C-T BCL10 c.263G>A p.R88Q Missense 2/3 -
17-64738870-G-A PRKCA c.1516G>A p.A506T Missense 13/17 -
6-162206857-T-C PRKN c.818A>G p.N273S Missense 7/12 -
19-54394975-G-A PRKCG c.577G>A p.D193N Missense 6/18 -
14-23898240-T-C MYH7 c.1331A>G p.N444S Missense 14/40 -
18-48591894-T-A SMAD4 c.1057T>A p.Y353N Missense 9/12 -
3-178922328-C-G PIK3CA c.1097C>G p.P366R Missense 6/21 -
1-149785212-G-A H3C13 c.25C>T p.R9C Missense 1/1 -
19-40486241-C-T PSMC4 c.967C>T p.R323W Missense 9/11 -
17-12016634-C-T MAP2K4 c.770C>T p.S257F Missense 7/11 -
12-109614034-A-T ACACB c.1403A>T p.E468V Missense 9/53 -
3-30733065-G-C TGFBR2 c.1678G>C p.D560H Missense 7/7 -
5-156675919-TC-AG ITK c.1693_1694delTCinsAG p.S565R Missense 16/17 -
1-16460975-AA-GG EPHA2 c.1669_1670delTTinsCC p.F557P Missense 8/17 -
17-12032599-C-G MAP2K4 c.1035C>G p.N345K Missense 9/11 -
17-12032599-C-A MAP2K4 c.1035C>A p.N345K Missense 9/11 -
15-66782067-A-C MAP2K1 c.1034A>C p.N345T Missense 10/11 -
9-93637085-T-A SYK c.1135T>A p.S379T Missense 9/14 -
17-12032594-GTC-ATG MAP2K4 c.1030_1032delGTCinsATG p.V344M Missense 9/11 -
1-16460401-G-C EPHA2 c.1692C>G p.N564K Missense 9/17 -
1-16460401-G-T EPHA2 c.1692C>A p.N564K Missense 9/17 -
3-41274889-A-G CTNNB1 c.1139A>G p.N380S Missense 8/15 -
22-29090070-G-C CHEK2 c.1411C>G p.P471A Missense 13/15 -
12-120541633-G-A RAB35 c.224C>T p.S75F Missense 3/6 -
11-116707093-A-G APOA1 c.235T>C p.S79P Missense 4/4 -
14-77492022-G-A IRF2BPL c.2114C>T p.S705F Missense 1/1 -
12-54966490-A-G PDE1B c.700A>G p.T234A Missense 7/16 -
12-54966942-C-T PDE1B c.746C>T p.S249L Missense 8/16 -
12-54968932-G-A PDE1B c.1115G>A p.S372N Missense 11/16 -
12-54968991-T-C PDE1B c.1174T>C p.F392L Missense 11/16 -
12-54803355-A-G ITGA5 c.376T>C p.S126P Missense 3/30 -
12-54968993-C-A PDE1B c.1176C>A p.F392L Missense 11/16 -
12-54968993-C-G PDE1B c.1176C>G p.F392L Missense 11/16 -
12-54969802-A-T PDE1B c.1294A>T p.T432S Missense 13/16 -
16-56642595-G-T MT2A c.28G>T p.G10C Missense 1/3 -
16-56642916-C-T MT2A c.41C>T p.T14I Missense 2/3 -
16-56642584-C-T MT2A c.17C>T p.S6F Missense 1/3 -
20-32659947-G-C RALY c.67G>C p.V23L Missense 3/10 -
14-65008064-C-T HSPA2 c.497C>T p.T166M Missense 1/1 -
5-133328037-A-G VDAC1 c.77T>C p.L26S Missense 3/9 -
9-21441038-T-A IFNA1 c.532T>A p.S178T Missense 1/1 -
1-179090794-T-C ABL2 c.896A>G p.Y299C Missense 5/12 -
X-133620520-A-G HPRT1 c.344A>G p.K115R Missense 4/9 -
X-133627577-T-C HPRT1 c.442T>C p.S148P Missense 6/9 -
X-133627578-C-T HPRT1 c.443C>T p.S148F Missense 6/9 -
4-36179582-G-A ARAP2 c.1724C>T p.S575L Missense 9/33 -
4-36179567-G-A ARAP2 c.1739C>T p.S580L Missense 9/33 -
4-36179561-G-C ARAP2 c.1745C>G p.S582C Missense 9/33 -
2-38977291-C-G SRSF7 c.74G>C p.G25A Missense 2/8 -
2-38977271-T-C SRSF7 c.94A>G p.S32G Missense 2/8 -
2-38977264-T-C SRSF7 c.101A>G p.Y34C Missense 2/8 -
2-38977254-T-A SRSF7 c.111A>T p.L37F Missense 2/8 -
5-137542264-T-C CDC23 c.344A>G p.Y115C Missense 3/16 -
2-38977254-T-G SRSF7 c.111A>C p.L37F Missense 2/8 -
12-64889269-A-G TBK1 c.1528A>G p.S510G Missense 14/21 -
2-232573441-A-G PTMA c.25A>G p.S9G Missense 1/5 -
14-55429799-G-C WDHD1 c.2402C>G p.S801C Missense 19/26 -
14-55429793-G-C WDHD1 c.2408C>G p.S803C Missense 19/26 -
1-220835248-A-G MARK1 c.2128A>G p.S710G Missense 18/18 -
6-80746291-C-A TTK c.2024C>A p.T675K Missense 17/22 -
6-80746293-A-G TTK c.2026A>G p.T676A Missense 17/22 -
20-60712472-G-A PSMA7 c.602C>T p.S201L Missense 6/7 -
10-34663884-G-A PARD3 c.1586C>T p.S529L Missense 11/25 -
6-7583574-G-A DSP c.6079G>A p.E2027K Missense 24/24 -
5-137542246-G-A CDC23 c.362C>T p.S121F Missense 3/16 -
5-156672923-C-A ITK c.1547C>A p.T516K Missense 15/17 -
9-21367828-C-T IFNA13 c.182G>A p.G61E Missense 1/1 -
12-9266120-G-A A2M c.106C>T p.P36S Missense 2/36 -
12-9265042-T-C A2M c.361A>G p.M121V Missense 3/36 -
12-9265040-C-G A2M c.363G>C p.M121I Missense 3/36 -
12-9265040-C-T A2M c.363G>A p.M121I Missense 3/36 -
12-9265040-C-A A2M c.363G>T p.M121I Missense 3/36 -
12-9248257-G-T A2M c.1891C>A p.P631T Missense 16/36 -
12-9248254-C-T A2M c.1894G>A p.G632R Missense 16/36 -
12-9248254-C-G A2M c.1894G>C p.G632R Missense 16/36 -
12-9266108-G-C A2M c.118C>G p.H40D Missense 2/36 -
12-9265031-G-C A2M c.372C>G p.N124K Missense 3/36 -
12-9265031-G-T A2M c.372C>A p.N124K Missense 3/36 -
2-44079860-C-T ABCG8 c.817C>T p.R273C Missense 6/13 -
2-44079860-C-G ABCG8 c.817C>G p.R273G Missense 6/13 -
2-44079861-G-A ABCG8 c.818G>A p.R273H Missense 6/13 -
2-44079786-C-A ABCG8 c.743C>A p.A248D Missense 6/13 -
1-179090986-T-C ABL2 c.704A>G p.E235G Missense 5/12 -
1-179090987-C-T ABL2 c.703G>A p.E235K Missense 5/12 -
1-179090987-C-G ABL2 c.703G>C p.E235Q Missense 5/12 -
1-179090797-T-A ABL2 c.893A>T p.Q298L Missense 5/12 -
1-179090747-C-T ABL2 c.943G>A p.A315T Missense 5/12 -
1-179090801-C-T ABL2 c.889G>A p.G297S Missense 5/12 -
1-179090792-C-T ABL2 c.898G>A p.G300R Missense 5/12 -
1-179090792-C-G ABL2 c.898G>C p.G300R Missense 5/12 -
5-32724837-G-A NPR3 c.803G>A p.R268Q Missense 2/8 -
5-32724836-C-T NPR3 c.802C>T p.R268W Missense 2/8 -
5-32780860-G-A NPR3 c.1228G>A p.G410R Missense 5/8 -
5-32780860-G-C NPR3 c.1228G>C p.G410R Missense 5/8 -
5-32712408-C-T NPR3 c.526C>T p.R176C Missense 1/8 -
5-32774933-G-T NPR3 c.1179G>T p.W393C Missense 4/8 -
5-32774933-G-C NPR3 c.1179G>C p.W393C Missense 4/8 -
5-32774938-G-T NPR3 c.1184G>T p.R395I Missense 4/8 -
18-47329196-G-A ACAA2 c.44C>T p.T15M Missense 2/10 -
18-47329197-T-C ACAA2 c.43A>G p.T15A Missense 2/10 -
18-47329193-G-C ACAA2 c.47C>G p.P16R Missense 2/10 -
18-47329199-C-A ACAA2 c.41G>T p.R14L Missense 2/10 -
18-47317959-T-C ACAA2 c.764A>G p.D255G Missense 7/10 -
18-47329202-T-C ACAA2 c.38A>G p.K13R Missense 2/10 -
12-109577350-C-T ACACB c.140C>T p.P47L Missense 2/53 -
12-109604740-C-A ACACB c.728C>A p.T243N Missense 3/53 -
12-109577362-C-G ACACB c.152C>G p.S51C Missense 2/53 -
12-109613964-G-A ACACB c.1333G>A p.E445K Missense 9/53 -
7-5568832-G-A ACTB c.323C>T p.A108V Missense 3/6 -
7-5569251-C-G ACTB c.38G>C p.G13A Missense 2/6 -
7-5568236-T-C ACTB c.478A>G p.T160A Missense 4/6 -
7-5568179-C-T ACTB c.535G>A p.D179N Missense 4/6 -
7-5568185-G-A ACTB c.529C>T p.R177C Missense 4/6 -
7-5567404-G-A ACTB c.1103C>T p.S368F Missense 6/6 -
7-5567405-A-C ACTB c.1102T>G p.S368A Missense 6/6 -
7-5567400-G-C ACTB c.1107C>G p.I369M Missense 6/6 -
7-5568218-A-G ACTB c.496T>C p.Y166H Missense 4/6 -
7-5568986-C-T ACTB c.169G>A p.E57K Missense 3/6 -
7-5568977-T-C ACTB c.178A>G p.S60G Missense 3/6 -
7-5568972-C-G ACTB c.183G>C p.K61N Missense 3/6 -
7-5568972-C-A ACTB c.183G>T p.K61N Missense 3/6 -
7-5568970-C-G ACTB c.185G>C p.R62T Missense 3/6 -
17-79478258-T-A ACTG1 c.758A>T p.E253V Missense 4/6 -
17-79478246-C-T ACTG1 c.770G>A p.C257Y Missense 4/6 -
17-79478433-C-T ACTG1 c.583G>A p.E195K Missense 4/6 -
17-79479155-C-A ACTG1 c.137G>T p.G46V Missense 3/6 -
17-79478513-C-G ACTG1 c.503G>C p.G168A Missense 4/6 -
17-79478514-C-T ACTG1 c.502G>A p.G168S Missense 4/6 -
17-79479165-C-A ACTG1 c.127G>T p.V43F Missense 3/6 -
17-79478286-C-G ACTG1 c.730G>C p.D244H Missense 4/6 -
17-79478289-G-C ACTG1 c.727C>G p.P243A Missense 4/6 -
17-79477962-C-G ACTG1 c.975G>C p.M325I Missense 5/6 -
17-79477962-C-T ACTG1 c.975G>A p.M325I Missense 5/6 -
17-79477962-C-A ACTG1 c.975G>T p.M325I Missense 5/6 -
17-79477963-A-G ACTG1 c.974T>C p.M325T Missense 5/6 -
1-236902780-T-A ACTN2 c.1055T>A p.L352Q Missense 10/21 -
1-236902782-C-T ACTN2 c.1057C>T p.R353W Missense 10/21 -
1-236902788-A-T ACTN2 c.1063A>T p.S355C Missense 10/21 -
1-236902789-G-T ACTN2 c.1064G>T p.S355I Missense 10/21 -
1-236908040-G-A ACTN2 c.1370G>A p.R457H Missense 12/21 -
1-236908036-G-A ACTN2 c.1366G>A p.D456N Missense 12/21 -
1-236908036-G-T ACTN2 c.1366G>T p.D456Y Missense 12/21 -
1-236908035-G-T ACTN2 c.1365G>T p.Q455H Missense 12/21 -
1-236908035-G-C ACTN2 c.1365G>C p.Q455H Missense 12/21 -
1-236906314-A-G ACTN2 c.1226A>G p.K409R Missense 11/21 -
1-236911030-G-T ACTN2 c.1470G>T p.W490C Missense 13/21 -
1-236911030-G-C ACTN2 c.1470G>C p.W490C Missense 13/21 -
1-236914901-C-G ACTN2 c.1788C>G p.S596R Missense 15/21 -
1-236914901-C-A ACTN2 c.1788C>A p.S596R Missense 15/21 -
1-236914899-A-C ACTN2 c.1786A>C p.S596R Missense 15/21 -
1-236912460-C-T ACTN2 c.1552C>T p.H518Y Missense 14/21 -
1-236925894-C-A ACTN2 c.2660C>A p.A887E Missense 21/21 -
1-236925893-G-T ACTN2 c.2659G>T p.A887S Missense 21/21 -
1-236925896-C-A ACTN2 c.2662C>A p.L888I Missense 21/21 -
1-236925903-G-T ACTN2 c.2669G>T p.G890V Missense 21/21 -
1-236925828-G-A ACTN2 c.2594G>A p.R865K Missense 21/21 -
12-52309997-C-T ACVRL1 c.1226C>T p.A409V Missense 8/10 -
12-52310000-G-A ACVRL1 c.1229G>A p.R410H Missense 8/10 -
12-52312784-A-G ACVRL1 c.1262A>G p.Y421C Missense 9/10 -
7-938885-C-A ADAP1 c.881G>T p.R294L Missense 10/11 -
7-938885-C-T ADAP1 c.881G>A p.R294Q Missense 10/11 -
7-939073-A-C ADAP1 c.850T>G p.Y284D Missense 9/11 -
7-939751-C-G ADAP1 c.783G>C p.K261N Missense 8/11 -
7-939751-C-A ADAP1 c.783G>T p.K261N Missense 8/11 -
6-69703712-C-T ADGRB3 c.1787C>T p.S596F Missense 11/32 -
6-69703720-A-G ADGRB3 c.1795A>G p.T599A Missense 11/32 -
6-69685223-G-T ADGRB3 c.1725G>T p.L575F Missense 10/32 -
6-69685223-G-C ADGRB3 c.1725G>C p.L575F Missense 10/32 -
6-69703735-G-A ADGRB3 c.1810G>A p.D604N Missense 11/32 -
6-26123904-C-G H2BC4 c.229G>C p.E77Q Missense 1/1 -
6-26123919-C-G H2BC4 c.214G>C p.E72Q Missense 1/1 -
6-26273441-C-T H2BC10 c.238C>T p.R80C Missense 1/1 -
6-26240930-C-T H4C6 c.277C>T p.R93C Missense 1/1 -
1-149784930-C-T H3C13 c.307G>A p.G103R Missense 1/1 -
1-149784930-C-G H3C13 c.307G>C p.G103R Missense 1/1 -
6-27792087-T-C H4C11 c.185T>C p.F62S Missense 1/1 -
6-26184252-G-A H2BC6 c.229G>A p.E77K Missense 1/1 -
6-26184259-C-T H2BC6 c.236C>T p.S79F Missense 1/1 -
6-26217522-G-A H2AC8 c.320G>A p.G107D Missense 1/1 -
6-26123851-C-G H2BC4 c.282G>C p.E94D Missense 1/1 -
6-26123851-C-A H2BC4 c.282G>T p.E94D Missense 1/1 -
1-149785058-T-G H3C13 c.179A>C p.E60A Missense 1/1 -
1-149784964-C-G H3C13 c.273G>C p.M91I Missense 1/1 -
1-149784964-C-T H3C13 c.273G>A p.M91I Missense 1/1 -
1-149784964-C-A H3C13 c.273G>T p.M91I Missense 1/1 -
1-149784945-C-T H3C13 c.292G>A p.E98K Missense 1/1 -
1-149784945-C-G H3C13 c.292G>C p.E98Q Missense 1/1 -
6-26123915-C-T H2BC4 c.218G>A p.R73H Missense 1/1 -
6-26184240-C-A H2BC6 c.217C>A p.R73S Missense 1/1 -
6-26273498-G-C H2BC10 c.295G>C p.V99L Missense 1/1 -
6-26273498-G-T H2BC10 c.295G>T p.V99L Missense 1/1 -
6-26104393-A-G H4C3 c.218A>G p.Y73C Missense 1/1 -
6-26104332-G-C H4C3 c.157G>C p.E53Q Missense 1/1 -
6-26104441-A-G H4C3 c.266A>G p.Y89C Missense 1/1 -
17-73775164-G-A H3-3B c.92C>T p.P31L Missense 2/4 -
17-73775146-T-A H3-3B c.110A>T p.K37M Missense 2/4 -
1-226252163-G-C H3-3A c.111G>C p.K37N Missense 2/4 -
1-226252163-G-T H3-3A c.111G>T p.K37N Missense 2/4 -
1-226252162-A-G H3-3A c.110A>G p.K37R Missense 2/4 -
3-47142967-A-G SETD2 c.4996T>C p.Y1666H Missense 8/21 -
3-47139519-C-T SETD2 c.5068G>A p.G1690R Missense 9/21 -
3-47139519-C-G SETD2 c.5068G>C p.G1690R Missense 9/21 -
6-27777859-G-A H3C10 c.8G>A p.R3H Missense 1/1 -
6-27858524-G-A H3C12 c.47C>T p.A16V Missense 1/1 -
6-26104341-C-G H4C3 c.166C>G p.R56G Missense 1/1 -
3-28454696-G-T ZCWPW2 c.137G>T p.S46I Missense 3/10 -
6-13601090-C-G SIRT5 c.766C>G p.P256A Missense 9/10 -
6-27858539-G-T H3C12 c.32C>A p.S11Y Missense 1/1 -
6-27858534-C-A H3C12 c.37G>T p.G13C Missense 1/1 -
6-27858549-C-A H3C12 c.22G>T p.A8S Missense 1/1 -
6-27777891-G-T H3C10 c.40G>T p.G14C Missense 1/1 -
6-27777856-C-G H3C10 c.5C>G p.A2G Missense 1/1 -
6-27777869-G-T H3C10 c.18G>T p.Q6H Missense 1/1 -
6-27777869-G-C H3C10 c.18G>C p.Q6H Missense 1/1 -
6-27777876-C-G H3C10 c.25C>G p.R9G Missense 1/1 -
6-27778143-G-A H3C10 c.292G>A p.E98K Missense 1/1 -
12-14923900-C-T H4-16 c.119G>A p.R40Q Missense 1/1 -
X-76939961-A-G ATRX c.787T>C p.W263R Missense 9/35 -
6-26104293-C-G H4C3 c.118C>G p.R40G Missense 1/1 -
4-100869968-C-A H2AZ1 c.325G>T p.G109C Missense 4/5 -
6-26247135-C-T H4C7 c.71G>A p.S24N Missense 1/1 -
6-27791973-G-A H4C11 c.71G>A p.R24H Missense 1/1 -
6-26104245-C-T H4C3 c.70C>T p.R24W Missense 1/1 -
6-25726437-C-T H2AC1 c.319G>A p.G107R Missense 1/1 -
6-25726437-C-G H2AC1 c.319G>C p.G107R Missense 1/1 -
7-44875199-C-A H2AZ2 c.254G>T p.R85L Missense 4/5 -
6-26199227-C-T H2AC7 c.245G>A p.R82Q Missense 1/1 -
6-26217509-A-T H2AC8 c.307A>T p.I103F Missense 1/1 -
6-27778027-C-G H3C10 c.176C>G p.T59S Missense 1/1 -
6-27778026-A-T H3C10 c.175A>T p.T59S Missense 1/1 -
1-226252059-C-T H3-3A c.7C>T p.R3C Missense 2/4 -
1-226252059-C-G H3-3A c.7C>G p.R3G Missense 2/4 -
1-226252060-G-C H3-3A c.8G>C p.R3P Missense 2/4 -
6-27100971-G-A H2AC11 c.121G>A p.A41T Missense 1/1 -
6-27860798-C-G H2AC17 c.130G>C p.V44L Missense 1/1 -
6-26123867-G-C H2BC4 c.266C>G p.T89S Missense 1/1 -
6-26123868-T-A H2BC4 c.265A>T p.T89S Missense 1/1 -
1-226252097-A-C H3-3A c.45A>C p.K15N Missense 2/4 -
1-226252097-A-T H3-3A c.45A>T p.K15N Missense 2/4 -
1-226252066-A-T H3-3A c.14A>T p.K5M Missense 2/4 -
6-26273466-C-G H2BC10 c.263C>G p.S88W Missense 1/1 -
X-76939961-A-T ATRX c.787T>A p.W263R Missense 9/35 -
6-27860756-A-T H2AC17 c.172T>A p.Y58N Missense 1/1 -
6-27100920-C-A H2AC11 c.70C>A p.L24I Missense 1/1 -
6-27860752-A-T H2AC17 c.176T>A p.L59Q Missense 1/1 -
6-26123802-C-G H2BC4 c.331G>C p.A111P Missense 1/1 -
6-26123793-C-T H2BC4 c.340G>A p.E114K Missense 1/1 -
6-26123793-C-G H2BC4 c.340G>C p.E114Q Missense 1/1 -
6-27776148-C-T H2AC13 c.161C>T p.A54V Missense 1/1 -
6-26184370-C-G H2BC6 c.347C>G p.T116S Missense 1/1 -
6-26184369-A-T H2BC6 c.346A>T p.T116S Missense 1/1 -
6-26273543-G-A H2BC10 c.340G>A p.E114K Missense 1/1 -
6-26273547-G-A H2BC10 c.344G>A p.G115D Missense 1/1 -
6-25726691-G-A H2AC1 c.65C>T p.A22V Missense 1/1 -
6-26246947-C-T H4C7 c.259G>A p.V87M Missense 1/1 -
6-26246919-C-T H4C7 c.287G>A p.R96K Missense 1/1 -
6-27778119-G-A H3C10 c.268G>A p.V90M Missense 1/1 -
6-27858284-G-A H3C12 c.287C>T p.A96V Missense 1/1 -
1-228612752-G-A H3-4 c.275C>T p.A92V Missense 1/1 -
6-27792189-G-T H4C11 c.287G>T p.R96L Missense 1/1 -
6-26240939-C-T H4C6 c.286C>T p.R96C Missense 1/1 -
6-25726520-A-T H2AC1 c.236T>A p.I79N Missense 1/1 -
6-25726524-G-A H2AC1 c.232C>T p.R78C Missense 1/1 -
6-26123970-T-C H2BC4 c.163A>G p.I55V Missense 1/1 -
6-26273373-C-G H2BC10 c.170C>G p.S57C Missense 1/1 -
6-26104299-G-C H4C3 c.124G>C p.G42R Missense 1/1 -
6-26104300-G-T H4C3 c.125G>T p.G42V Missense 1/1 -
6-27858432-C-T H3C12 c.139G>A p.V47M Missense 1/1 -
6-26104310-G-C H4C3 c.135G>C p.K45N Missense 1/1 -
6-26104310-G-T H4C3 c.135G>T p.K45N Missense 1/1 -
1-149784921-C-T H3C13 c.316G>A p.E106K Missense 1/1 -
12-31944778-T-A H3-5 c.323A>T p.N108I Missense 1/1 -
14-21822664-G-A SUPT16H c.2696C>T p.S899F Missense 23/26 -
6-27858243-G-C H3C12 c.328C>G p.L110V Missense 1/1 -
1-228612711-C-G H3-4 c.316G>C p.E106Q Missense 1/1 -
1-226253396-G-T H3-3A c.168G>T p.Q56H Missense 3/4 -
1-226253396-G-C H3-3A c.168G>C p.Q56H Missense 3/4 -
X-16881173-G-C RBBP7 c.212C>G p.T71R Missense 3/12 -
2-27016052-T-C CENPA c.328T>C p.Y110H Missense 4/5 -
4-100869668-T-C H2AZ1 c.338A>G p.H113R Missense 5/5 -
17-73775131-T-C H3-3B c.125A>G p.Y42C Missense 2/4 -
1-226253377-G-A H3-3A c.149G>A p.R50H Missense 3/4 -
1-226253376-C-T H3-3A c.148C>T p.R50C Missense 3/4 -
17-73775024-C-A H3-3B c.149G>T p.R50L Missense 3/4 -
17-73775024-C-G H3-3B c.149G>C p.R50P Missense 3/4 -
1-226253371-C-A H3-3A c.143C>A p.A48E Missense 3/4 -
1-226253371-C-T H3-3A c.143C>T p.A48V Missense 3/4 -
6-26217409-C-G H2AC8 c.207C>G p.N69K Missense 1/1 -
6-26217409-C-A H2AC8 c.207C>A p.N69K Missense 1/1 -
6-26217407-A-C H2AC8 c.205A>C p.N69H Missense 1/1 -
6-26217396-A-T H2AC8 c.194A>T p.E65V Missense 1/1 -
6-26217395-G-C H2AC8 c.193G>C p.E65Q Missense 1/1 -
6-26217398-C-G H2AC8 c.196C>G p.L66V Missense 1/1 -
6-26217416-C-G H2AC8 c.214C>G p.R72G Missense 1/1 -
6-26217410-G-A H2AC8 c.208G>A p.A70T Missense 1/1 -
1-228612851-G-A H3-4 c.176C>T p.T59I Missense 1/1 -
1-228612849-C-T H3-4 c.178G>A p.E60K Missense 1/1 -
1-228612733-C-G H3-4 c.294G>C p.E98D Missense 1/1 -
1-228612733-C-A H3-4 c.294G>T p.E98D Missense 1/1 -
6-27100914-G-C H2AC11 c.64G>C p.A22P Missense 1/1 -
6-27100915-C-T H2AC11 c.65C>T p.A22V Missense 1/1 -
6-26123774-G-A H2BC4 c.359C>T p.T120I Missense 1/1 -
6-27100998-G-C H2AC11 c.148G>C p.V50L Missense 1/1 -
6-27100998-G-T H2AC11 c.148G>T p.V50L Missense 1/1 -
6-26123766-T-C H2BC4 c.367A>G p.T123A Missense 1/1 -
6-26123759-G-A H2BC4 c.374C>T p.S125F Missense 1/1 -
6-26104327-T-C H4C3 c.152T>C p.I51T Missense 1/1 -
6-26247065-G-C H4C7 c.141C>G p.I47M Missense 1/1 -
6-26247051-T-A H4C7 c.155A>T p.Y52F Missense 1/1 -
6-26247052-A-G H4C7 c.154T>C p.Y52H Missense 1/1 -
6-26104260-G-T H4C3 c.85G>T p.G29C Missense 1/1 -
6-26104261-G-A H4C3 c.86G>A p.G29D Missense 1/1 -
6-27791998-G-C H4C11 c.96G>C p.K32N Missense 1/1 -
6-27791998-G-T H4C11 c.96G>T p.K32N Missense 1/1 -
17-73774729-T-C H3-3B c.358A>G p.I120V Missense 4/4 -
6-27778216-C-A H3C10 c.365C>A p.P122H Missense 1/1 -
12-14923918-G-A H4-16 c.101C>T p.A34V Missense 1/1 -
6-26247132-T-C H4C7 c.74A>G p.D25G Missense 1/1 -
12-14923946-C-T H4-16 c.73G>A p.D25N Missense 1/1 -
6-27791994-C-A H4C11 c.92C>A p.T31N Missense 1/1 -
6-27791988-G-T H4C11 c.86G>T p.G29V Missense 1/1 -
12-14923933-C-A H4-16 c.86G>T p.G29V Missense 1/1 -
6-26240790-G-A H4C6 c.137G>A p.R46H Missense 1/1 -
6-26240799-G-C H4C6 c.146G>C p.G49A Missense 1/1 -
6-26240823-G-A H4C6 c.170G>A p.G57D Missense 1/1 -
6-26104323-C-G H4C3 c.148C>G p.L50V Missense 1/1 -
6-26104345-G-T H4C3 c.170G>T p.G57V Missense 1/1 -
12-14923862-C-T H4-16 c.157G>A p.E53K Missense 1/1 -
6-162864484-C-A PRKN c.29G>T p.S10I Missense 2/12 -
6-162864494-A-G PRKN c.19T>C p.F7L Missense 2/12 -
6-162864492-G-T PRKN c.21C>A p.F7L Missense 2/12 -
6-162864492-G-C PRKN c.21C>G p.F7L Missense 2/12 -
6-162864488-A-C PRKN c.25T>G p.S9A Missense 2/12 -
6-161970029-G-C PRKN c.940C>G p.R314G Missense 9/12 -
6-26246994-A-G H4C7 c.212T>C p.V71A Missense 1/1 -
6-26246995-C-T H4C7 c.211G>A p.V71M Missense 1/1 -
6-26246971-G-A H4C7 c.235C>T p.R79C Missense 1/1 -
6-26246970-C-G H4C7 c.236G>C p.R79P Missense 1/1 -
12-14923779-C-G H4-16 c.240G>C p.K80N Missense 1/1 -
12-14923779-C-A H4-16 c.240G>T p.K80N Missense 1/1 -
17-7572982-G-C TP53 c.1127C>G p.S376C Missense 11/11 -
6-26246972-C-G H4C7 c.234G>C p.K78N Missense 1/1 -
6-26246972-C-A H4C7 c.234G>T p.K78N Missense 1/1 -
15-43712518-C-T TP53BP1 c.4666G>A p.E1556K Missense 21/28 -
6-27792116-A-G H4C11 c.214A>G p.T72A Missense 1/1 -
6-27792123-C-T H4C11 c.221C>T p.T74I Missense 1/1 -
6-27792156-T-C H4C11 c.254T>C p.M85T Missense 1/1 -
6-27778092-A-G H3C10 c.241A>G p.T81A Missense 1/1 -
6-26240876-G-A H4C6 c.223G>A p.E75K Missense 1/1 -
6-26104417-C-T H4C3 c.242C>T p.T81I Missense 1/1 -
12-14923804-G-A H4-16 c.215C>T p.T72I Missense 1/1 -
6-27100864-G-T H2AC11 c.14G>T p.G5V Missense 1/1 -
6-27100863-G-T H2AC11 c.13G>T p.G5C Missense 1/1 -
6-27860915-C-T H2AC17 c.13G>A p.G5S Missense 1/1 -
6-27775992-C-G H2AC13 c.5C>G p.S2C Missense 1/1 -
6-27775992-C-T H2AC13 c.5C>T p.S2F Missense 1/1 -
6-27775995-G-A H2AC13 c.8G>A p.G3E Missense 1/1 -
6-27100855-C-G H2AC11 c.5C>G p.S2C Missense 1/1 -
6-27100857-G-A H2AC11 c.7G>A p.G3R Missense 1/1 -
6-27100857-G-C H2AC11 c.7G>C p.G3R Missense 1/1 -
6-27100858-G-T H2AC11 c.8G>T p.G3V Missense 1/1 -
6-27860923-G-C H2AC17 c.5C>G p.S2C Missense 1/1 -
12-109613964-G-C ACACB c.1333G>C p.E445Q Missense 9/53 -
12-109613984-G-T ACACB c.1353G>T p.L451F Missense 9/53 -
12-109613984-G-C ACACB c.1353G>C p.L451F Missense 9/53 -
12-109614037-G-T ACACB c.1406G>T p.S469I Missense 9/53 -
6-26123854-C-G H2BC4 c.279G>C p.R93S Missense 1/1 -
6-26123854-C-A H2BC4 c.279G>T p.R93S Missense 1/1 -
6-26123855-C-A H2BC4 c.278G>T p.R93M Missense 1/1 -
6-26123856-T-C H2BC4 c.277A>G p.R93G Missense 1/1 -
6-26184294-A-G H2BC6 c.271A>G p.T91A Missense 1/1 -
8-124348631-G-A ATAD2 c.3193C>T p.P1065S Missense 22/28 -
8-124348628-C-G ATAD2 c.3196G>C p.D1066H Missense 22/28 -
X-70643863-C-T TAF1 c.4675C>T p.P1539S Missense 31/38 -
6-27791909-G-A H4C11 c.7G>A p.G3S Missense 1/1 -
6-27791910-G-T H4C11 c.8G>T p.G3V Missense 1/1 -
6-27791912-C-T H4C11 c.10C>T p.R4C Missense 1/1 -
6-27791912-C-G H4C11 c.10C>G p.R4G Missense 1/1 -
6-27792201-G-A H4C11 c.299G>A p.G100D Missense 1/1 -
12-14923720-C-G H4-16 c.299G>C p.G100A Missense 1/1 -
6-26123951-C-A H2BC4 c.182G>T p.G61V Missense 1/1 -
6-26273408-G-A H2BC10 c.205G>A p.D69N Missense 1/1 -
6-26123939-G-A H2BC4 c.194C>T p.S65F Missense 1/1 -
6-26123936-A-C H2BC4 c.197T>G p.F66C Missense 1/1 -
22-36680157-G-A MYH9 c.5747C>T p.S1916F Missense 40/41 -
22-36680169-C-T MYH9 c.5735G>A p.R1912H Missense 40/41 -
11-5255422-C-A HBD c.114G>T p.W38C Missense 2/3 -
11-5255422-C-G HBD c.114G>C p.W38C Missense 2/3 -
11-5255394-C-A HBD c.142G>T p.D48Y Missense 2/3 -
11-5255382-G-A HBD c.154C>T p.P52S Missense 2/3 -
11-5255402-G-A HBD c.134C>T p.S45F Missense 2/3 -
11-5246842-G-A HBB c.430C>T p.H144Y Missense 3/3 -
11-5246840-G-T HBB c.432C>A p.H144Q Missense 3/3 -
11-5246840-G-C HBB c.432C>G p.H144Q Missense 3/3 -
11-5247854-T-C HBB c.268A>G p.S90G Missense 2/3 -
11-5247820-G-A HBB c.302C>T p.P101L Missense 2/3 -
11-5275577-G-A HBG2 c.260C>T p.A87V Missense 2/3 -
11-5275578-C-T HBG2 c.259G>A p.A87T Missense 2/3 -
11-5275568-C-T HBG2 c.269G>A p.S90N Missense 2/3 -
11-5275568-C-A HBG2 c.269G>T p.S90I Missense 2/3 -
11-5275575-G-T HBG2 c.262C>A p.Q88K Missense 2/3 -
11-5275574-T-C HBG2 c.263A>G p.Q88R Missense 2/3 -
11-5275566-C-T HBG2 c.271G>A p.E91K Missense 2/3 -
11-5275685-G-A HBG2 c.152C>T p.S51F Missense 2/3 -
11-5275588-C-G HBG2 c.249G>C p.K83N Missense 2/3 -
11-5275588-C-A HBG2 c.249G>T p.K83N Missense 2/3 -
11-5274520-G-A HBG2 c.431C>T p.S144F Missense 3/3 -
11-5275596-C-T HBG2 c.241G>A p.D81N Missense 2/3 -
16-223583-C-T HBA2 c.413C>T p.T138I Missense 3/3 -
16-223305-C-T HBA2 c.277C>T p.R93W Missense 2/3 -
11-5248013-G-C HBB c.109C>G p.P37A Missense 2/3 -
11-5247999-C-G HBB c.123G>C p.R41S Missense 2/3 -
11-5247999-C-A HBB c.123G>T p.R41S Missense 2/3 -
11-5255426-G-T HBD c.110C>A p.P37H Missense 2/3 -
11-5275669-C-G HBG2 c.168G>C p.M56I Missense 2/3 -
11-5275669-C-T HBG2 c.168G>A p.M56I Missense 2/3 -
11-5275669-C-A HBG2 c.168G>T p.M56I Missense 2/3 -
11-5275676-G-A HBG2 c.161C>T p.A54V Missense 2/3 -
11-5275677-C-T HBG2 c.160G>A p.A54T Missense 2/3 -
11-5275655-A-G HBG2 c.182T>C p.V61A Missense 2/3 -
11-5275535-G-A HBG2 c.302C>T p.P101L Missense 2/3 -
11-5275536-G-A HBG2 c.301C>T p.P101S Missense 2/3 -
11-5275539-C-A HBG2 c.298G>T p.D100Y Missense 2/3 -
11-5275556-C-A HBG2 c.281G>T p.C94F Missense 2/3 -
11-5275527-A-G HBG2 c.310T>C p.F104L Missense 2/3 -
11-5275525-G-T HBG2 c.312C>A p.F104L Missense 2/3 -
11-5275525-G-C HBG2 c.312C>G p.F104L Missense 2/3 -
11-5274532-C-G HBG2 c.419G>C p.S140T Missense 3/3 -
11-5275542-C-T HBG2 c.295G>A p.V99M Missense 2/3 -
11-5275544-T-A HBG2 c.293A>T p.H98L Missense 2/3 -
11-5275545-G-A HBG2 c.292C>T p.H98Y Missense 2/3 -
16-223537-C-T HBA2 c.367C>T p.H123Y Missense 3/3 -
16-223544-C-T HBA2 c.374C>T p.S125F Missense 3/3 -
16-223546-C-A HBA2 c.376C>A p.L126M Missense 3/3 -
11-5246880-T-C HBB c.392A>G p.Y131C Missense 3/3 -
11-5247811-A-G HBB c.311T>C p.F104S Missense 2/3 -
7-6426860-G-T RAC1 c.53G>T p.C18F Missense 2/6 -
7-6426900-A-C RAC1 c.93A>C p.E31D Missense 2/6 -
7-6426900-A-T RAC1 c.93A>T p.E31D Missense 2/6 -
7-6426904-A-T RAC1 c.97A>T p.I33F Missense 2/6 -
7-6426883-A-G RAC1 c.76A>G p.N26D Missense 2/6 -
3-49405963-C-A RHOA c.175G>T p.D59Y Missense 3/5 -
3-49405962-T-C RHOA c.176A>G p.D59G Missense 3/5 -
3-49412958-A-G RHOA c.65T>C p.L22P Missense 2/5 -
3-49412958-A-C RHOA c.65T>G p.L22R Missense 2/5 -
3-49405956-G-T RHOA c.182C>A p.A61D Missense 3/5 -
3-49405951-G-T RHOA c.187C>A p.Q63K Missense 3/5 -
3-49405959-G-T RHOA c.179C>A p.T60K Missense 3/5 -
3-49412907-A-C RHOA c.116T>G p.F39C Missense 2/5 -
3-49412956-T-G RHOA c.67A>C p.I23L Missense 2/5 -
3-49412956-T-A RHOA c.67A>T p.I23L Missense 2/5 -
3-49412900-G-C RHOA c.123C>G p.N41K Missense 2/5 -
3-49412900-G-T RHOA c.123C>A p.N41K Missense 2/5 -
1-156913742-G-A ARHGEF11 c.3220C>T p.R1074C Missense 32/41 -
7-36461497-C-T ANLN c.2195C>T p.T732I Missense 13/24 -
3-49412946-C-A RHOA c.77G>T p.S26I Missense 2/5 -
3-49412913-G-A RHOA c.110C>T p.T37I Missense 2/5 -
3-49412914-T-A RHOA c.109A>T p.T37S Missense 2/5 -
3-49412903-C-G RHOA c.120G>C p.E40D Missense 2/5 -
3-49412903-C-A RHOA c.120G>T p.E40D Missense 2/5 -
3-49405920-G-A RHOA c.218C>T p.S73F Missense 3/5 -
3-49405921-A-G RHOA c.217T>C p.S73P Missense 3/5 -
10-5494863-G-T NET1 c.574G>T p.D192Y Missense 6/12 -
19-6833256-G-C VAV1 c.1570G>C p.E524Q Missense 16/27 -
3-49405942-A-T RHOA c.196T>A p.Y66N Missense 3/5 -
19-6833257-A-T VAV1 c.1571A>T p.E524V Missense 16/27 -
19-6833546-T-G VAV1 c.1618T>G p.F540V Missense 17/27 -
19-6828654-G-A VAV1 c.1114G>A p.E372K Missense 12/27 -
3-49405953-C-T RHOA c.185G>A p.G62E Missense 3/5 -
3-49405954-C-T RHOA c.184G>A p.G62R Missense 3/5 -
3-49405954-C-G RHOA c.184G>C p.G62R Missense 3/5 -
3-49405933-G-T RHOA c.205C>A p.L69M Missense 3/5 -
3-49405928-C-G RHOA c.210G>C p.R70S Missense 3/5 -
3-49405928-C-A RHOA c.210G>T p.R70S Missense 3/5 -
11-46701805-C-G ARHGAP1 c.848G>C p.R283T Missense 10/13 -
3-49405948-C-G RHOA c.190G>C p.E64Q Missense 3/5 -
2-233244524-G-A ALPP c.535G>A p.A179T Missense 5/11 -
19-17316911-A-G MYO9B c.5207A>G p.K1736R Missense 32/40 -
1-156917573-C-T ARHGEF11 c.2329G>A p.E777K Missense 25/41 -
3-49412965-A-C RHOA c.58T>G p.C20G Missense 2/5 -
18-18548749-C-T ROCK1 c.2987G>A p.R996Q Missense 25/33 -
7-6431650-G-A RAC1 c.203G>A p.R68H Missense 3/6 -
7-6431649-C-A RAC1 c.202C>A p.R68S Missense 3/6 -
7-6431652-C-T RAC1 c.205C>T p.P69S Missense 3/6 -
7-6431634-G-C RAC1 c.187G>C p.D63H Missense 3/6 -
7-6431634-G-A RAC1 c.187G>A p.D63N Missense 3/6 -
20-47324868-T-C PREX1 c.713A>G p.N238S Missense 6/40 -
5-14391097-G-A TRIO c.4216G>A p.D1406N Missense 27/57 -
3-49397732-T-G RHOA c.492A>C p.K164N Missense 5/5 -
6-161127522-A-C PLG c.133A>C p.S45R Missense 2/19 -
3-49397732-T-A RHOA c.492A>T p.K164N Missense 5/5 -
3-49399983-C-G RHOA c.354G>C p.K118N Missense 4/5 -
3-49399983-C-A RHOA c.354G>T p.K118N Missense 4/5 -
3-49397743-C-T RHOA c.481G>A p.A161T Missense 5/5 -
3-49412941-C-A RHOA c.82G>T p.D28Y Missense 2/5 -
19-40742002-C-G AKT2 c.970G>C p.D324H Missense 11/14 -
19-40742005-C-T AKT2 c.967G>A p.E323K Missense 11/14 -
19-40742171-G-A AKT2 c.953C>T p.A318V Missense 10/14 -
4-74275110-A-T ALB c.521A>T p.Y174F Missense 5/15 -
4-74275109-T-C ALB c.520T>C p.Y174H Missense 5/15 -
4-74275112-G-T ALB c.523G>T p.A175S Missense 5/15 -
4-74275115-C-G ALB c.526C>G p.P176A Missense 5/15 -
4-74276060-C-T ALB c.647C>T p.S216L Missense 6/15 -
4-74276063-C-T ALB c.650C>T p.S217F Missense 6/15 -
4-74277802-A-T ALB c.803A>T p.E268V Missense 7/15 -
4-74277801-G-A ALB c.802G>A p.E268K Missense 7/15 -
4-74277796-A-G ALB c.797A>G p.H266R Missense 7/15 -
4-74277830-T-G ALB c.831T>G p.C277W Missense 7/15 -
4-74275124-C-T ALB c.535C>T p.L179F Missense 5/15 -
15-45007713-G-A B2M c.160G>A p.D54N Missense 2/4 -
15-45007714-A-T B2M c.161A>T p.D54V Missense 2/4 -
15-45007801-A-T B2M c.248A>T p.Y83F Missense 2/4 -
19-50017183-C-G FCGRT c.118C>G p.P40A Missense 3/7 -
19-50017180-T-C FCGRT c.115T>C p.S39P Missense 3/7 -
15-45007864-A-G B2M c.311A>G p.H104R Missense 2/4 -
1-158300810-G-C CD1B c.104C>G p.S35C Missense 2/6 -
1-158299912-C-G CD1B c.337G>C p.E113Q Missense 3/6 -
15-45007788-G-T B2M c.235G>T p.D79Y Missense 2/4 -
4-74285252-C-T ALB c.1681C>T p.P561S Missense 13/15 -
4-74285253-C-G ALB c.1682C>G p.P561R Missense 13/15 -
4-74283255-G-T ALB c.1297G>T p.V433F Missense 11/15 -
4-74283925-G-C ALB c.1549G>C p.V517L Missense 12/15 -
4-74274350-C-G ALB c.310C>G p.L104V Missense 4/15 -
4-74274354-G-A ALB c.314G>A p.R105H Missense 4/15 -
4-74274354-G-T ALB c.314G>T p.R105L Missense 4/15 -
4-74274375-C-T ALB c.335C>T p.A112V Missense 4/15 -
4-74272394-T-G ALB c.186T>G p.D62E Missense 3/15 -
4-74272394-T-A ALB c.186T>A p.D62E Missense 3/15 -
9-75531873-C-T ALDH1A1 c.998G>A p.G333E Missense 9/13 -
9-75531867-G-A ALDH1A1 c.1004C>T p.P335L Missense 9/13 -
9-75531868-G-A ALDH1A1 c.1003C>T p.P335S Missense 9/13 -
9-75543923-C-G ALDH1A1 c.327G>C p.M109I Missense 4/13 -
9-75543923-C-T ALDH1A1 c.327G>A p.M109I Missense 4/13 -
9-75543923-C-A ALDH1A1 c.327G>T p.M109I Missense 4/13 -
2-233244506-G-A ALPP c.517G>A p.V173M Missense 5/11 -
2-233245553-G-A ALPP c.1004G>A p.G335D Missense 9/11 -
2-233244495-C-T ALPP c.506C>T p.T169I Missense 5/11 -
2-233244519-C-T ALPP c.530C>T p.S177L Missense 5/11 -
2-233244522-C-T ALPP c.533C>T p.P178L Missense 5/11 -
2-233244528-G-A ALPP c.539G>A p.G180D Missense 5/11 -
2-233246071-G-A ALPP c.1303G>A p.E435K Missense 10/11 -
2-233246210-G-A ALPP c.1313G>A p.S438N Missense 11/11 -
7-38516523-G-A AMPH c.443C>T p.A148V Missense 6/21 -
7-38516524-C-A AMPH c.442G>T p.A148S Missense 6/21 -
7-38516520-C-T AMPH c.446G>A p.R149H Missense 6/21 -
7-38515011-T-G AMPH c.510A>C p.E170D Missense 7/21 -
7-38515011-T-A AMPH c.510A>T p.E170D Missense 7/21 -
1-104162249-A-T AMY2A c.587A>T p.E196V Missense 4/10 -
1-104162248-G-A AMY2A c.586G>A p.E196K Missense 4/10 -
1-104162263-C-G AMY2A c.601C>G p.L201V Missense 4/10 -
1-104162256-G-C AMY2A c.594G>C p.M198I Missense 4/10 -
1-104162256-G-A AMY2A c.594G>A p.M198I Missense 4/10 -
1-104162256-G-T AMY2A c.594G>T p.M198I Missense 4/10 -
12-121766164-A-G ANAPC5 c.1259T>C p.I420T Missense 10/17 -
12-121766168-C-A ANAPC5 c.1255G>T p.D419Y Missense 10/17 -
12-121766167-T-C ANAPC5 c.1256A>G p.D419G Missense 10/17 -
11-71822309-A-C ANAPC15 c.14T>G p.F5C Missense 3/6 -
8-108296931-C-T ANGPT1 c.1184G>A p.G395E Missense 7/9 -
8-108296932-C-T ANGPT1 c.1183G>A p.G395R Missense 7/9 -
8-108296932-C-G ANGPT1 c.1183G>C p.G395R Missense 7/9 -
8-108297037-C-T ANGPT1 c.1078G>A p.E360K Missense 7/9 -
8-108276515-C-T ANGPT1 c.1270G>A p.D424N Missense 8/9 -
8-108276574-T-C ANGPT1 c.1211A>G p.Y404C Missense 8/9 -
4-114195792-C-T ANK2 c.1670C>T p.S557F Missense 15/46 -
4-114195729-T-G ANK2 c.1607T>G p.I536S Missense 15/46 -
4-114195732-C-T ANK2 c.1610C>T p.S537F Missense 15/46 -
4-114195716-A-C ANK2 c.1594A>C p.T532P Missense 15/46 -
4-114195692-G-T ANK2 c.1570G>T p.D524Y Missense 15/46 -
15-90349397-G-A ANPEP c.418C>T p.R140C Missense 2/21 -
15-90349396-C-T ANPEP c.419G>A p.R140H Missense 2/21 -
15-90349393-C-T ANPEP c.422G>A p.G141D Missense 2/21 -
9-72071273-G-A APBA1 c.1678C>T p.R560C Missense 8/13 -
9-72071272-C-T APBA1 c.1679G>A p.R560H Missense 8/13 -
9-72071269-C-T APBA1 c.1682G>A p.R561Q Missense 8/13 -
9-72071267-G-A APBA1 c.1684C>T p.R562W Missense 8/13 -
11-27114840-G-C BBOX1 c.460G>C p.G154R Missense 5/9 -
9-72071206-T-C APBA1 c.1745A>G p.K582R Missense 8/13 -
3-41268778-C-A CTNNB1 c.1016C>A p.T339N Missense 7/15 -
1-147091037-G-T BCL9 c.1076G>T p.R359L Missense 8/10 -
1-147091037-G-A BCL9 c.1076G>A p.R359Q Missense 8/10 -
1-147091036-C-T BCL9 c.1075C>T p.R359W Missense 8/10 -
1-147091046-C-T BCL9 c.1085C>T p.S362F Missense 8/10 -
1-147091042-C-T BCL9 c.1081C>T p.R361C Missense 8/10 -
3-41266838-A-T CTNNB1 c.509A>T p.K170M Missense 5/15 -
3-41266698-G-T CTNNB1 c.495G>T p.Q165H Missense 4/15 -
3-41266698-G-C CTNNB1 c.495G>C p.Q165H Missense 4/15 -
1-147091006-G-A BCL9 c.1045G>A p.D349N Missense 8/10 -
11-116692347-G-C APOA4 c.427C>G p.R143G Missense 3/3 -
11-116692346-C-T APOA4 c.428G>A p.R143H Missense 3/3 -
11-116692347-G-T APOA4 c.427C>A p.R143S Missense 3/3 -
11-116692343-G-A APOA4 c.431C>T p.T144I Missense 3/3 -
11-116691846-A-G APOA4 c.928T>C p.Y310H Missense 3/3 -
11-116692349-A-T APOA4 c.425T>A p.L142Q Missense 3/3 -
21-27254055-G-A APP c.2239C>T p.R747C Missense 18/18 -
21-27254054-C-T APP c.2240G>A p.R747H Missense 18/18 -
21-27254054-C-G APP c.2240G>C p.R747P Missense 18/18 -
6-152265629-C-A ESR1 c.1082C>A p.A361E Missense 4/8 -
6-152265629-C-T ESR1 c.1082C>T p.A361V Missense 4/8 -
11-27114841-G-C BBOX1 c.461G>C p.G154A Missense 5/9 -
17-7578237-C-G TP53 c.612G>C p.E204D Missense 6/11 -
17-7578237-C-A TP53 c.612G>T p.E204D Missense 6/11 -
17-7578239-C-G TP53 c.610G>C p.E204Q Missense 6/11 -
17-7577079-C-G TP53 c.859G>C p.E287Q Missense 8/11 -
17-7578493-C-G TP53 c.437G>C p.W146S Missense 5/11 -
11-102196242-G-T BIRC3 c.899G>T p.R300M Missense 3/9 -
11-102196243-G-C BIRC3 c.900G>C p.R300S Missense 3/9 -
11-102196243-G-T BIRC3 c.900G>T p.R300S Missense 3/9 -
11-102195983-C-G BIRC3 c.743C>G p.S248C Missense 2/9 -
11-102196208-G-A BIRC3 c.865G>A p.D289N Missense 3/9 -
7-140454004-C-T BRAF c.1724G>A p.R575K Missense 14/18 -
X-65253413-C-G VSIG4 c.315G>C p.M105I Missense 2/8 -
X-65253413-C-T VSIG4 c.315G>A p.M105I Missense 2/8 -
X-65253413-C-A VSIG4 c.315G>T p.M105I Missense 2/8 -
X-65253421-G-T VSIG4 c.307C>A p.L103M Missense 2/8 -
X-65253420-A-T VSIG4 c.308T>A p.L103Q Missense 2/8 -
1-57399065-C-T C8B c.1495G>A p.E499K Missense 10/12 -
1-57399057-A-C C8B c.1503T>G p.S501R Missense 10/12 -
1-57399057-A-T C8B c.1503T>A p.S501R Missense 10/12 -
1-57399059-T-G C8B c.1501A>C p.S501R Missense 10/12 -
9-139840549-G-A C8G c.359G>A p.R120Q Missense 4/7 -
1-57373686-G-T C8A c.1280G>T p.S427I Missense 9/11 -
1-57341848-G-A C8A c.430G>A p.E144K Missense 4/11 -
12-53585398-C-T ITGB7 c.2339G>A p.S780N Missense 16/16 -
7-148495743-G-C CUL1 c.2110G>C p.E704Q Missense 20/22 -
7-148484124-A-C CUL1 c.1391A>C p.K464T Missense 13/22 -
13-113914970-A-G CUL4A c.2081A>G p.Y694C Missense 19/20 -
7-148485666-G-C CUL1 c.1497G>C p.E499D Missense 14/22 -
7-148485666-G-T CUL1 c.1497G>T p.E499D Missense 14/22 -
11-104897574-G-A CASP1 c.1111C>T p.R371C Missense 8/9 -
11-104897592-C-A CASP1 c.1093G>T p.D365Y Missense 8/9 -
11-104901226-T-A CASP1 c.458A>T p.Y153F Missense 5/9 -
21-36259202-A-G RUNX1 c.289T>C p.F97L Missense 4/9 -
21-36259200-G-T RUNX1 c.291C>A p.F97L Missense 4/9 -
21-36259200-G-C RUNX1 c.291C>G p.F97L Missense 4/9 -
21-36259201-A-T RUNX1 c.290T>A p.F97Y Missense 4/9 -
21-36259204-T-C RUNX1 c.287A>G p.N96S Missense 4/9 -
16-67100613-A-G CBFB c.311A>G p.N104S Missense 4/6 -
16-67100616-G-A CBFB c.314G>A p.G105E Missense 4/6 -
16-67100608-T-G CBFB c.306T>G p.I102M Missense 4/6 -
21-36252998-C-T RUNX1 c.364G>A p.G122R Missense 5/9 -
21-36252998-C-G RUNX1 c.364G>C p.G122R Missense 5/9 -
6-26156692-G-A H1-4 c.74G>A p.R25H Missense 1/1 -
6-26156697-T-A H1-4 c.79T>A p.S27T Missense 1/1 -
17-37665992-C-T CDK12 c.2644C>T p.R882W Missense 7/14 -
17-37650846-G-A CDK12 c.2318G>A p.R773H Missense 5/14 -
17-37667787-C-T CDK12 c.2672C>T p.P891L Missense 8/14 -
17-37657655-C-T CDK12 c.2572C>T p.R858W Missense 6/14 -
17-37667858-C-T CDK12 c.2743C>T p.P915S Missense 8/14 -
17-37657640-A-C CDK12 c.2557A>C p.K853Q Missense 6/14 -
17-37667826-C-T CDK12 c.2711C>T p.P904L Missense 8/14 -
17-37667825-C-G CDK12 c.2710C>G p.P904A Missense 8/14 -
17-37667820-G-C CDK12 c.2705G>C p.R902P Missense 8/14 -
17-37667820-G-A CDK12 c.2705G>A p.R902Q Missense 8/14 -
17-37667841-G-T CDK12 c.2726G>T p.G909V Missense 8/14 -
16-68842633-A-G CDH1 c.569A>G p.Y190C Missense 5/16 -
16-68844139-G-C CDH1 c.727G>C p.E243Q Missense 6/16 -
16-68842627-T-A CDH1 c.563T>A p.V188D Missense 5/16 -
16-55844441-G-A CES1 c.1306C>T p.R436W Missense 11/14 -
16-55844440-C-T CES1 c.1307G>A p.R436Q Missense 11/14 -
16-55846894-A-T CES1 c.1007T>A p.L336H Missense 9/14 -
1-196799638-G-A CFHR1 c.616G>A p.G206R Missense 5/6 -
1-196799638-G-C CFHR1 c.616G>C p.G206R Missense 5/6 -
1-196799639-G-A CFHR1 c.617G>A p.G206E Missense 5/6 -
1-196800945-G-A CFHR1 c.809G>A p.R270Q Missense 6/6 -
1-196800951-T-C CFHR1 c.815T>C p.I272T Missense 6/6 -
X-153581812-C-G FLNA c.5874G>C p.M1958I Missense 37/48 -
X-153581812-C-T FLNA c.5874G>A p.M1958I Missense 37/48 -
X-153581812-C-A FLNA c.5874G>T p.M1958I Missense 37/48 -
X-153581814-T-G FLNA c.5872A>C p.M1958L Missense 37/48 -
12-53585397-A-T ITGB7 c.2340T>A p.S780R Missense 16/16 -
12-53585399-T-G ITGB7 c.2338A>C p.S780R Missense 16/16 -
X-153580315-C-T FLNA c.6844G>A p.E2282K Missense 42/48 -
17-45384987-G-A ITGB3 c.2285G>A p.R762K Missense 14/15 -
17-45387520-T-C ITGB3 c.2317T>C p.Y773H Missense 15/15 -
17-45387536-C-G ITGB3 c.2333C>G p.S778C Missense 15/15 -
17-45387554-C-T ITGB3 c.2351C>T p.T784M Missense 15/15 -
12-10218182-C-T CLEC9A c.677C>T p.T226M Missense 9/9 -
12-10217374-A-G CLEC9A c.515A>G p.D172G Missense 8/9 -
12-10215734-T-A CLEC9A c.400T>A p.W134R Missense 7/9 -
12-10215734-T-C CLEC9A c.400T>C p.W134R Missense 7/9 -
12-122861982-G-A CLIP1 c.611C>T p.S204L Missense 3/26 -
11-100170065-G-A CNTN5 c.2557G>A p.V853I Missense 20/25 -
11-100169931-G-A CNTN5 c.2423G>A p.G808D Missense 20/25 -
11-100169925-G-T CNTN5 c.2417G>T p.G806V Missense 20/25 -
11-100169914-G-T CNTN5 c.2406G>T p.Q802H Missense 20/25 -
11-100169914-G-C CNTN5 c.2406G>C p.Q802H Missense 20/25 -
11-100170076-T-G CNTN5 c.2568T>G p.N856K Missense 20/25 -
11-100170076-T-A CNTN5 c.2568T>A p.N856K Missense 20/25 -
11-100168359-C-T CNTN5 c.2317C>T p.P773S Missense 19/25 -
10-101816871-C-G CPN1 c.910G>C p.E304Q Missense 6/9 -
10-101816861-A-T CPN1 c.920T>A p.L307Q Missense 6/9 -
10-101825069-G-A CPN1 c.635C>T p.S212L Missense 4/9 -
2-211525315-TT-AG CPS1 c.3863_3864delTTinsAG p.V1288E Missense 32/38 -
16-3778737-C-G CREBBP c.6311G>C p.R2104P Missense 31/31 -
16-3778745-G-C CREBBP c.6303C>G p.I2101M Missense 31/31 -
16-3778746-A-G CREBBP c.6302T>C p.I2101T Missense 31/31 -
4-5862776-A-G CRMP1 c.632T>C p.L211P Missense 3/14 -
4-5862777-G-C CRMP1 c.631C>G p.L211V Missense 3/14 -
4-5862761-G-A CRMP1 c.647C>T p.T216M Missense 3/14 -
4-5862774-C-G CRMP1 c.634G>C p.V212L Missense 3/14 -
4-5862774-C-A CRMP1 c.634G>T p.V212L Missense 3/14 -
22-27019213-G-A CRYBA4 c.55G>A p.E19K Missense 3/6 -
22-27019213-G-C CRYBA4 c.55G>C p.E19Q Missense 3/6 -
22-27019229-G-A CRYBA4 c.71G>A p.G24D Missense 3/6 -
21-45194165-G-C CSTB c.215C>G p.S72C Missense 3/3 -
21-45194163-G-C CSTB c.217C>G p.L73V Missense 3/3 -
21-45194153-T-C CSTB c.227A>G p.E76G Missense 3/3 -
21-45194154-C-T CSTB c.226G>A p.E76K Missense 3/3 -
21-45194157-G-A CSTB c.223C>T p.H75Y Missense 3/3 -
16-67654642-C-T CTCF c.1129C>T p.R377C Missense 6/12 -
16-67654676-G-A CTCF c.1163G>A p.S388N Missense 6/12 -
16-67654694-T-C CTCF c.1181T>C p.L394P Missense 6/12 -
3-41278166-C-T CTNNB1 c.2042C>T p.S681F Missense 13/15 -
3-41278172-T-A CTNNB1 c.2048T>A p.F683Y Missense 13/15 -
3-41277981-G-C CTNNB1 c.1945G>C p.E649Q Missense 12/15 -
19-10610361-C-T KEAP1 c.349G>A p.E117K Missense 2/6 -
2-225422486-G-C CUL3 c.154C>G p.L52V Missense 2/16 -
2-225422486-G-A CUL3 c.154C>T p.L52F Missense 2/16 -
19-10610363-C-G KEAP1 c.347G>C p.R116P Missense 2/6 -
2-225422481-A-C CUL3 c.159T>G p.S53R Missense 2/16 -
2-225422481-A-T CUL3 c.159T>A p.S53R Missense 2/16 -
2-225422483-T-G CUL3 c.157A>C p.S53R Missense 2/16 -
2-225422495-T-C CUL3 c.145A>G p.N49D Missense 2/16 -
8-145151497-G-A CYC1 c.622G>A p.E208K Missense 5/7 -
8-145151504-A-T CYC1 c.629A>T p.Y210F Missense 5/7 -
8-145151503-T-C CYC1 c.628T>C p.Y210H Missense 5/7 -
8-145151968-G-C CYC1 c.804G>C p.K268N Missense 6/7 -
8-145151968-G-T CYC1 c.804G>T p.K268N Missense 6/7 -
8-145150898-C-T CYC1 c.292C>T p.H98Y Missense 2/7 -
10-96535195-C-T CYP2C19 c.380C>T p.S127F Missense 3/9 -
10-96602603-A-G CYP2C19 c.971A>G p.Q324R Missense 7/9 -
10-96535224-G-A CYP2C19 c.409G>A p.G137R Missense 3/9 -
10-96580386-A-C CYP2C19 c.953A>C p.E318A Missense 6/9 -
7-99367813-C-T CYP3A4 c.364G>A p.E122K Missense 5/13 -
7-99367835-C-G CYP3A4 c.342G>C p.M114I Missense 5/13 -
7-99367835-C-T CYP3A4 c.342G>A p.M114I Missense 5/13 -
7-99367835-C-A CYP3A4 c.342G>T p.M114I Missense 5/13 -
7-99367821-G-A CYP3A4 c.356C>T p.S119F Missense 5/13 -
7-99358539-C-T CYP3A4 c.1319G>A p.R440K Missense 12/13 -
7-99358583-G-C CYP3A4 c.1275C>G p.D425E Missense 12/13 -
7-99358583-G-T CYP3A4 c.1275C>A p.D425E Missense 12/13 -
7-99367406-G-A CYP3A4 c.506C>T p.P169L Missense 6/13 -
8-59409293-G-A CYP7A1 c.778C>T p.R260C Missense 3/6 -
8-59409268-G-T CYP7A1 c.803C>A p.S268Y Missense 3/6 -
8-59409268-G-A CYP7A1 c.803C>T p.S268F Missense 3/6 -
9-90219897-C-T DAPK1 c.91C>T p.R31C Missense 3/26 -
9-90114038-G-C DAPK1 c.46G>C p.G16R Missense 2/26 -
9-90219927-G-T DAPK1 c.121G>T p.A41S Missense 3/26 -
9-90219907-G-T DAPK1 c.101G>T p.S34I Missense 3/26 -
9-136508598-G-A DBH c.808G>A p.A270T Missense 4/12 -
9-136508610-G-A DBH c.820G>A p.D274N Missense 4/12 -
9-136508610-G-T DBH c.820G>T p.D274Y Missense 4/12 -
9-136509385-G-T DBH c.967G>T p.G323W Missense 5/12 -
18-50705378-G-C DCC c.1465G>C p.V489L Missense 9/29 -
18-50912418-A-G DCC c.2365A>G p.S789G Missense 16/29 -
18-50912420-T-G DCC c.2367T>G p.S789R Missense 16/29 -
18-50912420-T-A DCC c.2367T>A p.S789R Missense 16/29 -
18-50912418-A-C DCC c.2365A>C p.S789R Missense 16/29 -
18-50912422-C-A DCC c.2369C>A p.S790Y Missense 16/29 -
18-50912421-T-C DCC c.2368T>C p.S790P Missense 16/29 -
18-50866130-A-G DCC c.2212A>G p.T738A Missense 15/29 -
18-50912500-C-T DCC c.2447C>T p.S816F Missense 16/29 -
18-50683800-C-T DCC c.1336C>T p.R446C Missense 8/29 -
18-50683801-G-A DCC c.1337G>A p.R446H Missense 8/29 -
18-50683809-T-A DCC c.1345T>A p.W449R Missense 8/29 -
18-50683809-T-C DCC c.1345T>C p.W449R Missense 8/29 -
18-50705378-G-T DCC c.1465G>T p.V489L Missense 9/29 -
11-61081116-G-A DDB1 c.1924C>T p.R642C Missense 16/27 -
11-61081103-G-A DDB1 c.1937C>T p.T646I Missense 16/27 -
1-15960018-C-T DDI2 c.590C>T p.P197L Missense 4/10 -
1-15956918-G-A DDI2 c.367G>A p.G123R Missense 3/10 -
1-15956918-G-C DDI2 c.367G>C p.G123R Missense 3/10 -
1-15956921-G-C DDI2 c.370G>C p.E124Q Missense 3/10 -
1-15956926-A-G DDI2 c.375A>G p.I125M Missense 3/10 -
1-15956924-A-G DDI2 c.373A>G p.I125V Missense 3/10 -
X-41204467-G-T DDX3X c.1060G>T p.D354Y Missense 11/17 -
X-41205854-A-G DDX3X c.1594A>G p.T532A Missense 14/17 -
X-41204455-G-A DDX3X c.1048G>A p.D350N Missense 11/17 -
X-41202004-G-A DDX3X c.458G>A p.G153E Missense 6/17 -
6-74227622-C-T EEF1A1 c.1300G>A p.A434T Missense 8/8 -
X-41204564-C-G DDX3X c.1157C>G p.P386R Missense 11/17 -
X-41204476-T-C DDX3X c.1069T>C p.F357L Missense 11/17 -
X-41204478-T-A DDX3X c.1071T>A p.F357L Missense 11/17 -
X-41204478-T-G DDX3X c.1071T>G p.F357L Missense 11/17 -
X-41205768-G-C DDX3X c.1508G>C p.R503T Missense 14/17 -
22-20080404-G-T DGCR8 c.1679G>T p.S560I Missense 8/14 -
22-20080352-G-A DGCR8 c.1627G>A p.G543S Missense 8/14 -
22-20080353-G-A DGCR8 c.1628G>A p.G543D Missense 8/14 -
22-20079481-T-C DGCR8 c.1594T>C p.F532L Missense 7/14 -
22-20079483-C-A DGCR8 c.1596C>A p.F532L Missense 7/14 -
22-20079483-C-G DGCR8 c.1596C>G p.F532L Missense 7/14 -
X-153608118-C-T EMD c.151C>T p.P51S Missense 2/6 -
19-14629110-C-T DNAJB1 c.52G>A p.E18K Missense 1/3 -
19-14629110-C-G DNAJB1 c.52G>C p.E18Q Missense 1/3 -
11-65113462-C-G DPF2 c.837C>G p.D279E Missense 8/11 -
11-65113462-C-A DPF2 c.837C>A p.D279E Missense 8/11 -
11-65113460-G-T DPF2 c.835G>T p.D279Y Missense 8/11 -
11-65113439-T-C DPF2 c.814T>C p.Y272H Missense 8/11 -
6-7583553-G-A DSP c.6058G>A p.G2020R Missense 24/24 -
6-7583553-G-C DSP c.6058G>C p.G2020R Missense 24/24 -
6-7583560-C-G DSP c.6065C>G p.S2022C Missense 24/24 -
6-7584100-C-T DSP c.6605C>T p.S2202L Missense 24/24 -
6-7585755-G-A DSP c.8260G>A p.G2754R Missense 24/24 -
6-7585755-G-C DSP c.8260G>C p.G2754R Missense 24/24 -
6-7585756-G-A DSP c.8261G>A p.G2754E Missense 24/24 -
6-7585638-G-A DSP c.8143G>A p.E2715K Missense 24/24 -
6-7585618-C-T DSP c.8123C>T p.S2708L Missense 24/24 -
12-68051877-C-A DYRK2 c.1190C>A p.A397D Missense 3/3 -
12-68051876-G-T DYRK2 c.1189G>T p.A397S Missense 3/3 -
12-68051874-G-A DYRK2 c.1187G>A p.G396E Missense 3/3 -
12-68051862-A-T DYRK2 c.1175A>T p.E392V Missense 3/3 -
19-39306538-A-G ECH1 c.841T>C p.Y281H Missense 9/10 -
19-39306534-G-A ECH1 c.845C>T p.S282F Missense 9/10 -
6-74227972-G-A EEF1A1 c.1045C>T p.H349Y Missense 7/8 -
6-74227631-G-C EEF1A1 c.1291C>G p.Q431E Missense 8/8 -
6-74227633-C-G EEF1A1 c.1289G>C p.R430T Missense 8/8 -
6-74227628-T-A EEF1A1 c.1294A>T p.T432S Missense 8/8 -
6-74227625-C-A EEF1A1 c.1297G>T p.V433F Missense 8/8 -
6-74228875-C-T EEF1A1 c.401G>A p.R134Q Missense 4/8 -
6-74227637-T-C EEF1A1 c.1285A>G p.M429V Missense 8/8 -
6-74227933-C-A EEF1A1 c.1084G>T p.D362Y Missense 7/8 -
6-74229088-A-G EEF1A1 c.296T>C p.I99T Missense 3/8 -
6-74228304-C-T EEF1A1 c.802G>A p.E268K Missense 6/8 -
6-74228303-T-A EEF1A1 c.803A>T p.E268V Missense 6/8 -
6-74228304-C-G EEF1A1 c.802G>C p.E268Q Missense 6/8 -
6-74228300-G-C EEF1A1 c.806C>G p.T269S Missense 6/8 -
6-74228301-T-A EEF1A1 c.805A>T p.T269S Missense 6/8 -
6-74228453-C-T EEF1A1 c.740G>A p.R247H Missense 5/8 -
7-55221744-C-T EGFR c.788C>T p.T263I Missense 7/28 -
7-55221723-A-G EGFR c.767A>G p.D256G Missense 7/28 -
7-55221739-G-C EGFR c.783G>C p.K261N Missense 7/28 -
7-55221739-G-T EGFR c.783G>T p.K261N Missense 7/28 -
7-55221773-A-G EGFR c.817A>G p.T273A Missense 7/28 -
7-55260505-A-G EGFR c.2672A>G p.Y891C Missense 22/28 -
7-55259482-C-A EGFR c.2540C>A p.T847K Missense 21/28 -
7-55268923-T-G EGFR c.2989T>G p.F997V Missense 25/28 -
7-55241699-A-G EGFR c.2147A>G p.K716R Missense 18/28 -
7-55214313-G-A EGFR c.439G>A p.A147T Missense 4/28 -
12-124116905-C-A EIF2B1 c.102G>T p.L34F Missense 2/9 -
12-124116905-C-G EIF2B1 c.102G>C p.L34F Missense 2/9 -
12-124116902-C-G EIF2B1 c.105G>C p.K35N Missense 2/9 -
12-124116902-C-A EIF2B1 c.105G>T p.K35N Missense 2/9 -
12-124116922-T-A EIF2B1 c.85A>T p.T29S Missense 2/9 -
12-124116921-G-A EIF2B1 c.86C>T p.T29M Missense 2/9 -
17-7480675-C-T EIF4A1 c.638C>T p.S213L Missense 7/11 -
17-7478464-C-G EIF4A1 c.233C>G p.S78C Missense 4/11 -
14-103802201-T-C EIF5 c.4T>C p.S2P Missense 3/12 -
14-103802255-C-T EIF5 c.58C>T p.R20C Missense 3/12 -
14-103802255-C-A EIF5 c.58C>A p.R20S Missense 3/12 -
5-95226829-G-A ELL2 c.1739C>T p.S580F Missense 10/12 -
5-95226827-G-A ELL2 c.1741C>T p.P581S Missense 10/12 -
5-95226823-C-A ELL2 c.1745G>T p.G582V Missense 10/12 -
5-95226808-T-C ELL2 c.1760A>G p.Q587R Missense 10/12 -
X-153608125-C-T EMD c.158C>T p.S53L Missense 2/6 -
22-41565574-T-G EP300 c.4240T>G p.Y1414D Missense 26/31 -
22-41572350-C-G EP300 c.4879C>G p.R1627G Missense 30/31 -
22-41565533-G-T EP300 c.4199G>T p.S1400I Missense 26/31 -
22-41566475-A-C EP300 c.4352A>C p.H1451P Missense 27/31 -
22-41566460-A-G EP300 c.4337A>G p.Y1446C Missense 27/31 -
22-41565527-T-C EP300 c.4193T>C p.L1398P Missense 26/31 -
22-41566487-A-G EP300 c.4364A>G p.Q1455R Missense 27/31 -
22-41565523-T-G EP300 c.4189T>G p.Y1397D Missense 26/31 -
22-41566456-G-A EP300 c.4333G>A p.D1445N Missense 27/31 -
22-41564814-G-A EP300 c.4115G>A p.C1372Y Missense 25/31 -
18-5434011-C-A EPB41L3 c.715G>T p.D239Y Missense 7/23 -
18-5434010-T-C EPB41L3 c.716A>G p.D239G Missense 7/23 -
18-5434011-C-T EPB41L3 c.715G>A p.D239N Missense 7/23 -
18-5434014-C-T EPB41L3 c.712G>A p.G238R Missense 7/23 -
18-5434014-C-G EPB41L3 c.712G>C p.G238R Missense 7/23 -
18-5433996-C-T EPB41L3 c.730G>A p.E244K Missense 7/23 -
1-16458611-A-C EPHA2 c.2273T>G p.F758C Missense 13/17 -
1-16458615-C-T EPHA2 c.2269G>A p.D757N Missense 13/17 -
1-16460075-C-T EPHA2 c.1765G>A p.V589M Missense 10/17 -
1-16458680-T-C EPHA2 c.2204A>G p.Y735C Missense 13/17 -
1-16458678-C-G EPHA2 c.2206G>C p.V736L Missense 13/17 -
1-16458678-C-A EPHA2 c.2206G>T p.V736L Missense 13/17 -
1-16458597-C-T EPHA2 c.2287G>A p.V763M Missense 13/17 -
1-169484757-C-A F5 c.6453G>T p.K2151N Missense 24/25 -
3-89468425-G-C EPHA3 c.1959G>C p.K653N Missense 11/17 -
3-89468425-G-T EPHA3 c.1959G>T p.K653N Missense 11/17 -
3-89468424-A-G EPHA3 c.1958A>G p.K653R Missense 11/17 -
3-89480465-T-C EPHA3 c.2302T>C p.S768P Missense 13/17 -
3-89480399-G-A EPHA3 c.2236G>A p.D746N Missense 13/17 -
17-37880223-G-A ERBB2 c.2267G>A p.R756K Missense 19/27 -
2-212615384-G-T ERBB4 c.602C>A p.T201K Missense 5/28 -
2-212615417-T-C ERBB4 c.569A>G p.H190R Missense 5/28 -
2-212615418-G-A ERBB4 c.568C>T p.H190Y Missense 5/28 -
11-46750326-C-G F2 c.1411C>G p.P471A Missense 11/14 -
11-46750326-C-T F2 c.1411C>T p.P471S Missense 11/14 -
11-46749598-C-G F2 c.1183C>G p.L395V Missense 10/14 -
11-46760818-C-T F2 c.1729C>T p.P577S Missense 14/14 -
11-46750990-G-T F2 c.1533G>T p.W511C Missense 12/14 -
11-46750990-G-C F2 c.1533G>C p.W511C Missense 12/14 -
13-113803629-C-T F10 c.1265C>T p.P422L Missense 8/8 -
13-113803629-C-A F10 c.1265C>A p.P422Q Missense 8/8 -
13-113803428-C-T F10 c.1064C>T p.T355M Missense 8/8 -
13-113803395-C-A F10 c.1031C>A p.P344H Missense 8/8 -
13-113801733-G-A F10 c.788G>A p.G263E Missense 7/8 -
13-113803481-C-A F10 c.1117C>A p.Q373K Missense 8/8 -
13-113803614-G-T F10 c.1250G>T p.G417V Missense 8/8 -
2-127453707-T-G GYPC c.376T>G p.Y126D Missense 4/4 -
13-113803392-T-C F10 c.1028T>C p.L343P Missense 8/8 -
13-113803451-G-A F10 c.1087G>A p.G363S Missense 8/8 -
6-6145994-G-T F13A1 c.2057C>A p.P686H Missense 15/15 -
6-6145988-G-A F13A1 c.2063C>T p.S688F Missense 15/15 -
6-6145907-A-G F13A1 c.2144T>C p.L715P Missense 15/15 -
6-6152127-T-G F13A1 c.1964A>C p.N655T Missense 14/15 -
6-6152120-T-A F13A1 c.1971A>T p.L657F Missense 14/15 -
6-6152120-T-G F13A1 c.1971A>C p.L657F Missense 14/15 -
6-6146001-T-A F13A1 c.2050A>T p.I684F Missense 15/15 -
6-6225023-G-A F13A1 c.869C>T p.P290L Missense 7/15 -
6-6225024-G-T F13A1 c.868C>A p.P290T Missense 7/15 -
6-6225029-A-T F13A1 c.863T>A p.V288D Missense 7/15 -
6-6225017-G-T F13A1 c.875C>A p.A292D Missense 7/15 -
6-6225053-C-A F13A1 c.839G>T p.W280L Missense 7/15 -
6-6182361-A-T F13A1 c.1319T>A p.L440H Missense 11/15 -
6-6167798-C-T F13A1 c.1801G>A p.E601K Missense 13/15 -
6-6225059-C-T F13A1 c.833G>A p.G278E Missense 7/15 -
6-6224945-C-A F13A1 c.947G>T p.W316L Missense 7/15 -
6-6305671-G-A F13A1 c.232C>T p.R78C Missense 3/15 -
6-6305670-C-A F13A1 c.233G>T p.R78L Missense 3/15 -
6-6222390-C-T F13A1 c.988G>A p.G330R Missense 8/15 -
6-6222390-C-G F13A1 c.988G>C p.G330R Missense 8/15 -
6-6222389-C-T F13A1 c.989G>A p.G330E Missense 8/15 -
2-127453704-G-C GYPC c.373G>C p.E125Q Missense 4/4 -
6-6266812-G-A F13A1 c.550C>T p.L184F Missense 4/15 -
6-6266803-G-A F13A1 c.559C>T p.P187S Missense 4/15 -
6-6305713-C-T F13A1 c.190G>A p.D64N Missense 3/15 -
6-6305717-C-A F13A1 c.186G>T p.K62N Missense 3/15 -
6-6266798-C-A F13A1 c.564G>T p.W188C Missense 4/15 -
6-6266798-C-G F13A1 c.564G>C p.W188C Missense 4/15 -
6-6266905-A-T F13A1 c.457T>A p.C153S Missense 4/15 -
6-6266904-C-G F13A1 c.458G>C p.C153S Missense 4/15 -
1-169484771-C-G F5 c.6439G>C p.E2147Q Missense 24/25 -
1-169484771-C-T F5 c.6439G>A p.E2147K Missense 24/25 -
1-169484764-T-C F5 c.6446A>G p.Y2149C Missense 24/25 -
1-169484757-C-G F5 c.6453G>C p.K2151N Missense 24/25 -
4-120241839-C-T FABP2 c.226G>A p.G76R Missense 2/4 -
4-120241839-C-G FABP2 c.226G>C p.G76R Missense 2/4 -
4-120241838-C-T FABP2 c.227G>A p.G76E Missense 2/4 -
4-120241841-T-A FABP2 c.224A>T p.D75V Missense 2/4 -
4-120241895-C-A FABP2 c.170G>T p.R57L Missense 2/4 -
4-120240753-G-A FABP2 c.286C>T p.R96W Missense 3/4 -
8-82373746-A-G FABP9 c.13T>C p.F5L Missense 1/4 -
8-82373744-G-T FABP9 c.15C>A p.F5L Missense 1/4 -
8-82373744-G-C FABP9 c.15C>G p.F5L Missense 1/4 -
8-82370842-C-T FABP9 c.343G>A p.V115I Missense 3/4 -
8-82370841-A-G FABP9 c.344T>C p.V115A Missense 3/4 -
8-82370865-C-G FABP9 c.320G>C p.R107T Missense 3/4 -
9-35061056-C-T VCP c.1315G>A p.A439T Missense 11/17 -
9-35061055-G-A VCP c.1316C>T p.A439V Missense 11/17 -
9-35066717-A-T VCP c.400T>A p.Y134N Missense 4/17 -
9-35061086-G-A VCP c.1285C>T p.L429F Missense 11/17 -
9-97355963-G-A FBP2 c.46C>T p.R16C Missense 1/7 -
9-97355890-G-A FBP2 c.119C>T p.T40M Missense 1/7 -
17-16285604-A-G UBB c.383A>G p.D128G Missense 2/2 -
17-16285603-G-C UBB c.382G>C p.D128H Missense 2/2 -
17-16285513-A-G UBB c.292A>G p.T98A Missense 2/2 -
4-155508759-C-T FGA c.415G>A p.E139K Missense 4/5 -
4-155488798-T-C FGB c.544T>C p.Y182H Missense 4/8 -
3-49062390-G-A IMPDH2 c.1234C>T p.R412C Missense 11/14 -
4-155508742-T-G FGA c.432A>C p.K144N Missense 4/5 -
4-155508742-T-A FGA c.432A>T p.K144N Missense 4/5 -
4-155508746-C-A FGA c.428G>T p.R143L Missense 4/5 -
4-155508735-C-T FGA c.439G>A p.E147K Missense 4/5 -
12-79689913-C-T SYT1 c.539C>T p.P180L Missense 7/11 -
12-79689912-C-T SYT1 c.538C>T p.P180S Missense 7/11 -
12-79689973-G-T SYT1 c.599G>T p.R200L Missense 7/11 -
12-79689987-C-G SYT1 c.613C>G p.P205A Missense 7/11 -
12-79689993-T-C SYT1 c.619T>C p.F207L Missense 7/11 -
12-79689995-C-A SYT1 c.621C>A p.F207L Missense 7/11 -
12-79689995-C-G SYT1 c.621C>G p.F207L Missense 7/11 -
3-49062384-T-C IMPDH2 c.1240A>G p.M414V Missense 11/14 -
12-79689870-G-C SYT1 c.496G>C p.A166P Missense 7/11 -
12-79689976-A-T SYT1 c.602A>T p.K201I Missense 7/11 -
12-79689918-G-A SYT1 c.544G>A p.V182M Missense 7/11 -
12-79689885-G-A SYT1 c.511G>A p.A171T Missense 7/11 -
9-101900330-G-T TGFBR1 c.764G>T p.R255L Missense 4/9 -
9-101900329-C-T TGFBR1 c.763C>T p.R255C Missense 4/9 -
9-101895004-C-T TGFBR1 c.557C>T p.T186M Missense 3/9 -
9-101904899-C-T TGFBR1 c.887C>T p.T296I Missense 5/9 -
9-101900314-C-G TGFBR1 c.748C>G p.Q250E Missense 4/9 -
9-101900342-T-A TGFBR1 c.776T>A p.I259N Missense 4/9 -
20-1356212-G-A FKBP1A c.121C>T p.R41W Missense 3/5 -
20-1356217-G-C FKBP1A c.116C>G p.S39C Missense 3/5 -
20-1356217-G-T FKBP1A c.116C>A p.S39Y Missense 3/5 -
1-152287813-T-G FLG c.120A>C p.E40D Missense 2/3 -
1-152287813-T-A FLG c.120A>T p.E40D Missense 2/3 -
1-152287815-C-T FLG c.118G>A p.E40K Missense 2/3 -
1-152287815-C-G FLG c.118G>C p.E40Q Missense 2/3 -
1-152287816-C-G FLG c.117G>C p.K39N Missense 2/3 -
1-152287816-C-A FLG c.117G>T p.K39N Missense 2/3 -
1-152287830-C-T FLG c.103G>A p.E35K Missense 2/3 -
1-152287821-C-G FLG c.112G>C p.E38Q Missense 2/3 -
1-152287917-C-T FLG c.16G>A p.E6K Missense 2/3 -
11-128680431-G-A FLI1 c.907G>A p.E303K Missense 9/9 -
11-128680432-A-T FLI1 c.908A>T p.E303V Missense 9/9 -
11-128680395-C-T FLI1 c.871C>T p.L291F Missense 9/9 -
11-128680444-G-A FLI1 c.920G>A p.G307E Missense 9/9 -
X-153577354-C-T FLNA c.7807G>A p.E2603K Missense 48/48 -
X-153577312-A-G FLNA c.7849T>C p.S2617P Missense 48/48 -
7-128490862-G-C FLNC c.5404G>C p.V1802L Missense 33/48 -
7-128490862-G-T FLNC c.5404G>T p.V1802L Missense 33/48 -
7-128490862-G-A FLNC c.5404G>A p.V1802M Missense 33/48 -
7-128490861-G-C FLNC c.5403G>C p.E1801D Missense 33/48 -
7-128490861-G-T FLNC c.5403G>T p.E1801D Missense 33/48 -
7-128490892-C-G FLNC c.5434C>G p.P1812A Missense 33/48 -
7-128490967-G-A FLNC c.5509G>A p.G1837R Missense 33/48 -
3-49062375-G-A IMPDH2 c.1249C>T p.L417F Missense 11/14 -
7-128490967-G-C FLNC c.5509G>C p.G1837R Missense 33/48 -
7-128490928-G-C FLNC c.5470G>C p.V1824L Missense 33/48 -
7-128490928-G-T FLNC c.5470G>T p.V1824L Missense 33/48 -
7-128490958-C-T FLNC c.5500C>T p.H1834Y Missense 33/48 -
13-29002024-C-T FLT1 c.1141G>A p.A381T Missense 9/30 -
13-29002018-A-G FLT1 c.1147T>C p.Y383H Missense 9/30 -
13-28608122-A-G FLT3 c.1844T>C p.V615A Missense 15/24 -
13-28589834-C-T FLT3 c.2546G>A p.R849H Missense 21/24 -
20-22563212-A-T FOXA2 c.668T>A p.F223Y Missense 2/2 -
20-22563213-A-G FOXA2 c.667T>C p.F223L Missense 2/2 -
20-22563211-G-T FOXA2 c.669C>A p.F223L Missense 2/2 -
20-22563211-G-C FOXA2 c.669C>G p.F223L Missense 2/2 -
20-22563165-A-T FOXA2 c.715T>A p.W239R Missense 2/2 -
20-22563165-A-G FOXA2 c.715T>C p.W239R Missense 2/2 -
20-22563231-G-A FOXA2 c.649C>T p.L217F Missense 2/2 -
10-26589801-T-C GAD2 c.1669T>C p.F557L Missense 16/16 -
10-26589803-C-A GAD2 c.1671C>A p.F557L Missense 16/16 -
10-26589803-C-G GAD2 c.1671C>G p.F557L Missense 16/16 -
10-26589721-C-T GAD2 c.1589C>T p.A530V Missense 16/16 -
10-26589805-G-A GAD2 c.1673G>A p.R558H Missense 16/16 -
10-26589769-G-A GAD2 c.1637G>A p.S546N Missense 16/16 -
12-6646918-G-A GAPDH c.694G>A p.A232T Missense 8/9 -
12-6645674-G-A GAPDH c.44G>A p.G15E Missense 3/9 -
12-6645673-G-A GAPDH c.43G>A p.G15R Missense 3/9 -
12-6645673-G-C GAPDH c.43G>C p.G15R Missense 3/9 -
12-6646140-G-C GAPDH c.291G>C p.E97D Missense 5/9 -
12-6646140-G-T GAPDH c.291G>T p.E97D Missense 5/9 -
12-6645670-A-G GAPDH c.40A>G p.I14V Missense 3/9 -
10-8106058-T-G GATA3 c.881T>G p.M294R Missense 4/6 -
7-150389535-C-T GIMAP2 c.161C>T p.S54F Missense 3/3 -
7-150389469-G-A GIMAP2 c.95G>A p.G32E Missense 3/3 -
7-150389532-G-A GIMAP2 c.158G>A p.G53D Missense 3/3 -
7-150269298-G-A GIMAP4 c.140G>A p.G47E Missense 3/3 -
7-150269283-G-A GIMAP4 c.125G>A p.G42E Missense 3/3 -
7-150269316-G-A GIMAP4 c.158G>A p.R53Q Missense 3/3 -
7-150269372-C-T GIMAP4 c.214C>T p.R72C Missense 3/3 -
7-150269373-G-T GIMAP4 c.215G>T p.R72L Missense 3/3 -
7-150269289-G-A GIMAP4 c.131G>A p.S44N Missense 3/3 -
7-150269319-A-T GIMAP4 c.161A>T p.K54I Missense 3/3 -
7-150269411-G-C GIMAP4 c.253G>C p.D85H Missense 3/3 -
1-110121878-T-C GNAI3 c.356T>C p.M119T Missense 4/9 -
1-110125079-G-A GNAI3 c.482G>A p.R161K Missense 5/9 -
1-110125084-T-G GNAI3 c.487T>G p.S163A Missense 5/9 -
1-110125089-G-T GNAI3 c.492G>T p.Q164H Missense 5/9 -
1-110125089-G-C GNAI3 c.492G>C p.Q164H Missense 5/9 -
1-110121874-G-A GNAI3 c.352G>A p.V118I Missense 4/9 -
1-110121883-C-G GNAI3 c.361C>G p.P121A Missense 4/9 -
6-161127528-G-A PLG c.139G>A p.E47K Missense 2/19 -
14-52433368-C-T GNG2 c.179C>T p.P60L Missense 4/4 -
14-52433367-C-T GNG2 c.178C>T p.P60S Missense 4/4 -
14-52433353-C-T GNG2 c.164C>T p.P55L Missense 4/4 -
14-52433361-G-C GNG2 c.172G>C p.E58Q Missense 4/4 -
14-52433384-G-C GNG2 c.195G>C p.K65N Missense 4/4 -
14-52433384-G-T GNG2 c.195G>T p.K65N Missense 4/4 -
20-5574005-G-A GPCPD1 c.199C>T p.R67C Missense 4/20 -
20-5574004-C-T GPCPD1 c.200G>A p.R67H Missense 4/20 -
20-5564939-A-G GPCPD1 c.337T>C p.F113L Missense 6/20 -
20-5564937-A-T GPCPD1 c.339T>A p.F113L Missense 6/20 -
20-5564937-A-C GPCPD1 c.339T>G p.F113L Missense 6/20 -
20-5564938-A-G GPCPD1 c.338T>C p.F113S Missense 6/20 -
20-5566867-G-C GPCPD1 c.280C>G p.L94V Missense 5/20 -
12-50501537-G-A GPD1 c.800G>A p.G267E Missense 6/8 -
12-50501359-G-A GPD1 c.622G>A p.A208T Missense 6/8 -
12-50501360-C-T GPD1 c.623C>T p.A208V Missense 6/8 -
11-533878-C-T HRAS c.178G>A p.G60S Missense 3/6 -
5-86674234-G-A RASA1 c.2366G>A p.R789Q Missense 18/25 -
5-86674234-G-T RASA1 c.2366G>T p.R789L Missense 18/25 -
5-86679543-C-G RASA1 c.2704C>G p.L902V Missense 21/25 -
2-39224544-C-A SOS1 c.2814G>T p.L938F Missense 18/23 -
2-39224544-C-G SOS1 c.2814G>C p.L938F Missense 18/23 -
11-534291-G-T HRAS c.32C>A p.A11D Missense 2/6 -
11-533544-A-G HRAS c.359T>C p.L120P Missense 4/6 -
11-533462-C-G HRAS c.441G>C p.K147N Missense 4/6 -
11-533462-C-A HRAS c.441G>T p.K147N Missense 4/6 -
16-9934623-G-A GRIN2A c.1532C>T p.S511L Missense 7/13 -
16-9892293-C-T GRIN2A c.2197G>A p.A733T Missense 11/13 -
16-9934626-C-G GRIN2A c.1529G>C p.G510A Missense 7/13 -
16-9934621-G-A GRIN2A c.1534C>T p.L512F Missense 7/13 -
16-9943707-C-G GRIN2A c.1234G>C p.E412Q Missense 5/13 -
16-9934839-T-A GRIN2A c.1451A>T p.K484M Missense 6/13 -
16-9943701-C-A GRIN2A c.1240G>T p.A414S Missense 5/13 -
16-9934570-C-G GRIN2A c.1585G>C p.V529L Missense 7/13 -
16-9934570-C-A GRIN2A c.1585G>T p.V529L Missense 7/13 -
6-146351225-A-T GRM1 c.572A>T p.D191V Missense 1/8 -
6-146351224-G-T GRM1 c.571G>T p.D191Y Missense 1/8 -
6-146351228-T-G GRM1 c.575T>G p.L192R Missense 1/8 -
6-146351273-C-G GRM1 c.620C>G p.S207C Missense 1/8 -
6-146351216-C-A GRM1 c.563C>A p.T188K Missense 1/8 -
6-146351219-G-A GRM1 c.566G>A p.S189N Missense 1/8 -
1-149785214-G-A H3C13 c.23C>T p.A8V Missense 1/1 -
1-149785212-G-T H3C13 c.25C>A p.R9S Missense 1/1 -
19-42738561-C-T GSK3A c.848G>A p.R283H Missense 6/11 -
19-42738559-A-G GSK3A c.850T>C p.Y284H Missense 6/11 -
1-89329732-G-C GTF2B c.190C>G p.P64A Missense 3/7 -
1-89329731-G-A GTF2B c.191C>T p.P64L Missense 3/7 -
1-89329732-G-A GTF2B c.190C>T p.P64S Missense 3/7 -
20-7894923-G-A HAO1 c.433C>T p.R145W Missense 3/8 -
20-7894922-C-A HAO1 c.434G>T p.R145L Missense 3/8 -
20-7886836-G-T HAO1 c.686C>A p.T229K Missense 4/8 -
5-45353238-T-G HCN1 c.1341A>C p.E447D Missense 5/8 -
5-45353238-T-A HCN1 c.1341A>T p.E447D Missense 5/8 -
5-45353240-C-T HCN1 c.1339G>A p.E447K Missense 5/8 -
5-304319-C-T PDCD6 c.191C>T p.T64I Missense 3/6 -
5-304328-C-T PDCD6 c.200C>T p.S67L Missense 3/6 -
5-311485-G-A PDCD6 c.445G>A p.D149N Missense 5/6 -
5-311488-G-A PDCD6 c.448G>A p.D150N Missense 5/6 -
3-193854434-G-T HES1 c.137G>T p.R46L Missense 2/4 -
3-193854434-G-A HES1 c.137G>A p.R46Q Missense 2/4 -
3-193854434-G-C HES1 c.137G>C p.R46P Missense 2/4 -
4-145628247-C-T HHIP c.992C>T p.P331L Missense 6/13 -
4-145628246-C-A HHIP c.991C>A p.P331T Missense 6/13 -
4-145655934-C-T HHIP c.1802C>T p.A601V Missense 12/13 -
4-145627831-C-T HHIP c.980C>T p.S327F Missense 5/13 -
7-27237897-C-T HOXA13 c.1087G>A p.E363K Missense 2/2 -
7-27237896-T-A HOXA13 c.1088A>T p.E363V Missense 2/2 -
7-27237893-C-A HOXA13 c.1091G>T p.R364L Missense 2/2 -
7-27237921-T-G HOXA13 c.1063A>C p.I355L Missense 2/2 -
7-27237921-T-A HOXA13 c.1063A>T p.I355L Missense 2/2 -
8-99129320-G-A RIDA c.5C>T p.S2L Missense 1/6 -
8-99129313-C-A RIDA c.12G>T p.L4F Missense 1/6 -
8-99129313-C-G RIDA c.12G>C p.L4F Missense 1/6 -
6-31778584-T-C HSPA1L c.1166A>G p.K389R Missense 2/2 -
6-31778583-C-G HSPA1L c.1167G>C p.K389N Missense 2/2 -
6-31778583-C-A HSPA1L c.1167G>T p.K389N Missense 2/2 -
10-124273799-G-T HTRA1 c.1367G>T p.S456I Missense 9/9 -
10-124273856-C-T HTRA1 c.1424C>T p.P475L Missense 9/9 -
4-8295868-G-A HTRA3 c.991G>A p.A331T Missense 6/9 -
4-8295868-G-T HTRA3 c.991G>T p.A331S Missense 6/9 -
4-8295878-C-T HTRA3 c.1001C>T p.S334L Missense 6/9 -
8-42178286-A-G IKBKB c.1612A>G p.M538V Missense 16/22 -
8-42178287-T-C IKBKB c.1613T>C p.M538T Missense 16/22 -
8-42176835-C-T IKBKB c.1412C>T p.S471F Missense 14/22 -
8-42176820-C-G IKBKB c.1397C>G p.S466C Missense 14/22 -
2-113742478-G-A IL36G c.362G>A p.R121H Missense 5/5 -
2-113742477-C-T IL36G c.361C>T p.R121C Missense 5/5 -
2-113737597-G-T IL36G c.172G>T p.V58F Missense 4/5 -
2-113737642-G-A IL36G c.217G>A p.D73N Missense 4/5 -
7-22767230-G-T IL6 c.187G>T p.G63C Missense 2/5 -
7-22767215-C-T IL6 c.172C>T p.R58W Missense 2/5 -
7-22769223-C-G IL6 c.415C>G p.Q139E Missense 4/5 -
7-22769227-C-G IL6 c.419C>G p.A140G Missense 4/5 -
7-22767222-T-A IL6 c.179T>A p.I60N Missense 2/5 -
7-22767218-T-C IL6 c.175T>C p.Y59H Missense 2/5 -
3-49062368-G-A IMPDH2 c.1256C>T p.A419V Missense 11/14 -
3-49062390-G-T IMPDH2 c.1234C>A p.R412S Missense 11/14 -
3-49063774-A-G IMPDH2 c.989T>C p.I330T Missense 9/14 -
7-30795310-C-T INMT c.635C>T p.S212F Missense 3/3 -
7-30795280-C-T INMT c.605C>T p.P202L Missense 3/3 -
19-7174599-C-T INSR c.1118G>A p.G373E Missense 4/22 -
19-7174600-C-T INSR c.1117G>A p.G373R Missense 4/22 -
19-7174600-C-G INSR c.1117G>C p.G373R Missense 4/22 -
19-7172373-C-T INSR c.1196G>A p.R399Q Missense 5/22 -
19-7172370-G-C INSR c.1199C>G p.S400C Missense 5/22 -
19-7172367-T-A INSR c.1202A>T p.Y401F Missense 5/22 -
1-44415600-G-A IPO13 c.596G>A p.G199E Missense 2/20 -
1-44415596-T-G IPO13 c.592T>G p.C198G Missense 2/20 -
1-44415582-G-A IPO13 c.578G>A p.S193N Missense 2/20 -
1-44415398-C-G IPO13 c.394C>G p.L132V Missense 2/20 -
12-54799001-A-C ITGA5 c.1174T>G p.F392V Missense 12/30 -
12-54798991-G-A ITGA5 c.1184C>T p.S395F Missense 12/30 -
12-54798666-C-T ITGA5 c.1238G>A p.G413E Missense 13/30 -
12-54798660-G-A ITGA5 c.1244C>T p.P415L Missense 13/30 -
12-54798534-C-T ITGA5 c.1370G>A p.G457D Missense 13/30 -
10-33217097-C-T ITGB1 c.472G>A p.D158N Missense 5/16 -
10-33217122-C-G ITGB1 c.447G>C p.M149I Missense 5/16 -
10-33217122-C-T ITGB1 c.447G>A p.M149I Missense 5/16 -
10-33217122-C-A ITGB1 c.447G>T p.M149I Missense 5/16 -
10-33217124-T-C ITGB1 c.445A>G p.M149V Missense 5/16 -
10-33212629-A-G ITGB1 c.826T>C p.F276L Missense 7/16 -
10-33212627-A-T ITGB1 c.828T>A p.F276L Missense 7/16 -
10-33212627-A-C ITGB1 c.828T>G p.F276L Missense 7/16 -
10-33214878-A-G ITGB1 c.707T>C p.V236A Missense 6/16 -
5-156649893-A-C ITK c.516A>C p.E172D Missense 6/17 -
5-156649893-A-T ITK c.516A>T p.E172D Missense 6/17 -
5-156649985-G-A ITK c.608G>A p.S203N Missense 6/17 -
11-94731549-G-A KDM4D c.1013G>A p.R338H Missense 3/3 -
11-94731548-C-T KDM4D c.1012C>T p.R338C Missense 3/3 -
11-94731557-G-C KDM4D c.1021G>C p.D341H Missense 3/3 -
11-94731557-G-A KDM4D c.1021G>A p.D341N Missense 3/3 -
11-94731474-G-T KDM4D c.938G>T p.G313V Missense 3/3 -
19-10600002-T-C KEAP1 c.1574A>G p.Y525C Missense 5/6 -
12-118577338-G-T PEBP1 c.328G>T p.G110W Missense 3/4 -
19-10600006-C-A KEAP1 c.1570G>T p.G524C Missense 5/6 -
19-10600474-T-C KEAP1 c.1381A>G p.I461V Missense 4/6 -
19-10602580-C-T KEAP1 c.998G>A p.G333D Missense 3/6 -
19-10602584-C-A KEAP1 c.994G>T p.G332C Missense 3/6 -
19-10602583-C-T KEAP1 c.995G>A p.G332D Missense 3/6 -
19-10597491-C-T KEAP1 c.1712G>A p.G571D Missense 6/6 -
4-55573421-T-G KIT c.1083T>G p.D361E Missense 6/21 -
4-55573421-T-A KIT c.1083T>A p.D361E Missense 6/21 -
4-55573419-G-C KIT c.1081G>C p.D361H Missense 6/21 -
4-55573419-G-A KIT c.1081G>A p.D361N Missense 6/21 -
7-91852193-G-A KRIT1 c.1354C>T p.R452C Missense 13/19 -
4-55594022-T-A KIT c.1808T>A p.V603D Missense 12/21 -
4-55594223-A-C KIT c.1926A>C p.K642N Missense 13/21 -
4-55594223-A-T KIT c.1926A>T p.K642N Missense 13/21 -
4-55593652-C-A KIT c.1718C>A p.P573Q Missense 11/21 -
4-55594211-G-A KIT c.1914G>A p.M638I Missense 13/21 -
4-55594211-G-T KIT c.1914G>T p.M638I Missense 13/21 -
4-55594207-T-A KIT c.1910T>A p.L637H Missense 13/21 -
4-55595513-T-C KIT c.2003T>C p.V668A Missense 14/21 -
17-38508601-C-A RARA c.649C>A p.R217S Missense 6/9 -
4-55602925-T-C KIT c.2635T>C p.F879L Missense 19/21 -
4-55602927-C-A KIT c.2637C>A p.F879L Missense 19/21 -
4-55602927-C-G KIT c.2637C>G p.F879L Missense 19/21 -
3-122152574-C-T KPNA1 c.1184G>A p.R395Q Missense 12/14 -
3-122152575-G-A KPNA1 c.1183C>T p.R395W Missense 12/14 -
3-122156070-C-T KPNA1 c.1069G>A p.E357K Missense 11/14 -
3-122152584-C-A KPNA1 c.1174G>T p.A392S Missense 12/14 -
22-45564125-G-C NUP50 c.67G>C p.E23Q Missense 2/8 -
12-25398269-C-G KRAS c.50G>C p.S17T Missense 2/5 -
12-25398257-A-C KRAS c.62T>G p.I21R Missense 2/5 -
7-91852192-C-T KRIT1 c.1355G>A p.R452H Missense 13/19 -
7-91852190-G-C KRIT1 c.1357C>G p.L453V Missense 13/19 -
6-150004217-G-A LATS1 c.2008C>T p.R670W Missense 4/8 -
6-150001593-C-T LATS1 c.2011G>A p.V671I Missense 5/8 -
6-150001590-C-T LATS1 c.2014G>A p.G672R Missense 5/8 -
6-150001590-C-G LATS1 c.2014G>C p.G672R Missense 5/8 -
6-150001589-C-A LATS1 c.2015G>T p.G672V Missense 5/8 -
1-32742244-G-A LCK c.821G>A p.S274N Missense 9/13 -
1-32742265-C-T LCK c.842C>T p.S281F Missense 9/13 -
1-32742069-C-G LCK c.763C>G p.Q255E Missense 8/13 -
1-32742252-C-A LCK c.829C>A p.Q277K Missense 9/13 -
5-133534831-C-T PPP2CA c.803G>A p.R268H Missense 6/7 -
5-133534841-A-T PPP2CA c.793T>A p.Y265N Missense 6/7 -
5-133534840-T-A PPP2CA c.794A>T p.Y265F Missense 6/7 -
16-25186283-G-A LCMT1 c.910G>A p.E304K Missense 10/11 -
5-133541656-C-T PPP2CA c.269G>A p.G90E Missense 2/7 -
19-48636294-C-T LIG1 c.1670G>A p.R557H Missense 18/28 -
19-48636295-G-A LIG1 c.1669C>T p.R557C Missense 18/28 -
13-36049890-C-A MAB21L1 c.386G>T p.R129L Missense 1/1 -
13-36049891-G-A MAB21L1 c.385C>T p.R129W Missense 1/1 -
13-36049878-T-G MAB21L1 c.398A>C p.Q133P Missense 1/1 -
13-36049877-C-A MAB21L1 c.399G>T p.Q133H Missense 1/1 -
13-36049877-C-G MAB21L1 c.399G>C p.Q133H Missense 1/1 -
13-36049769-C-A MAB21L1 c.507G>T p.Q169H Missense 1/1 -
13-36049769-C-G MAB21L1 c.507G>C p.Q169H Missense 1/1 -
4-74719805-A-T PF4V1 c.281A>T p.Y94F Missense 3/3 -
13-36049768-T-A MAB21L1 c.508A>T p.I170F Missense 1/1 -
13-36049804-C-T MAB21L1 c.472G>A p.V158M Missense 1/1 -
17-11998907-G-A MAP2K4 c.409G>A p.V137M Missense 4/11 -
17-11998893-G-T MAP2K4 c.395G>T p.R132I Missense 4/11 -
17-11999007-G-A MAP2K4 c.509G>A p.R170K Missense 4/11 -
19-7975916-G-A MAP2K7 c.727G>A p.D243N Missense 7/11 -
19-7975916-G-T MAP2K7 c.727G>T p.D243Y Missense 7/11 -
19-7975932-A-G MAP2K7 c.743A>G p.N248S Missense 7/11 -
19-7975970-G-A MAP2K7 c.781G>A p.D261N Missense 7/11 -
19-7975984-C-G MAP2K7 c.795C>G p.S265R Missense 7/11 -
19-7975984-C-A MAP2K7 c.795C>A p.S265R Missense 7/11 -
19-7975982-A-C MAP2K7 c.793A>C p.S265R Missense 7/11 -
22-22142614-T-C MAPK1 c.788A>G p.Y263C Missense 6/9 -
22-22160239-T-C MAPK1 c.392A>G p.Y131C Missense 3/9 -
22-22127173-G-A MAPK1 c.955C>T p.P319S Missense 7/9 -
9-128206877-C-A MAPKAP1 c.1346G>T p.S449I Missense 11/12 -
9-128206874-T-C MAPKAP1 c.1349A>G p.H450R Missense 11/12 -
9-128206818-C-T MAPKAP1 c.1405G>A p.E469K Missense 11/12 -
14-65560460-A-G MAX c.137T>C p.L46S Missense 3/5 -
14-65560493-C-A MAX c.104G>T p.R35L Missense 3/5 -
16-3294556-G-A MEFV c.1643C>T p.T548I Missense 7/10 -
16-3294554-T-C MEFV c.1645A>G p.T549A Missense 7/10 -
16-3293550-G-A MEFV c.1937C>T p.P646L Missense 10/10 -
16-3293550-G-T MEFV c.1937C>A p.P646Q Missense 10/10 -
16-3298935-C-T MEFV c.1330G>A p.G444R Missense 4/10 -
16-3298935-C-G MEFV c.1330G>C p.G444R Missense 4/10 -
16-3294540-T-C MEFV c.1659A>G p.I553M Missense 7/10 -
16-3306572-T-C MEFV c.16A>G p.S6G Missense 1/10 -
16-3306401-C-T MEFV c.187G>A p.E63K Missense 1/10 -
16-3306400-T-A MEFV c.188A>T p.E63V Missense 1/10 -
16-3306389-C-T MEFV c.199G>A p.V67M Missense 1/10 -
7-116423487-T-G MET c.3762T>G p.S1254R Missense 19/21 -
7-116423487-T-A MET c.3762T>A p.S1254R Missense 19/21 -
7-116423485-A-C MET c.3760A>C p.S1254R Missense 19/21 -
12-95889827-G-A METAP2 c.820G>A p.D274N Missense 7/11 -
12-95906601-A-G METAP2 c.1093A>G p.T365A Missense 10/11 -
12-95889798-C-T METAP2 c.791C>T p.A264V Missense 7/11 -
4-119626806-G-T METTL14 c.896G>T p.S299I Missense 10/11 -
4-119631275-C-G METTL14 c.1189C>G p.P397A Missense 11/11 -
4-119626811-G-A METTL14 c.901G>A p.D301N Missense 10/11 -
4-119626826-C-T METTL14 c.916C>T p.H306Y Missense 10/11 -
3-154878220-C-T MME c.1643C>T p.S548L Missense 17/23 -
3-154878219-T-A MME c.1642T>A p.S548T Missense 17/23 -
3-154878217-C-T MME c.1640C>T p.S547F Missense 17/23 -
3-154878222-G-A MME c.1645G>A p.G549R Missense 17/23 -
3-154878222-G-C MME c.1645G>C p.G549R Missense 17/23 -
3-154886281-G-T MME c.1781G>T p.G594V Missense 19/23 -
3-154878231-C-G MME c.1654C>G p.Q552E Missense 17/23 -
3-154884801-G-T MME c.1771G>T p.D591Y Missense 18/23 -
3-154886304-G-C MME c.1804G>C p.D602H Missense 19/23 -
3-154890356-C-T MME c.2108C>T p.A703V Missense 22/23 -
3-154884795-G-T MME c.1765G>T p.G589C Missense 18/23 -
11-102649474-C-T MMP10 c.503G>A p.G168E Missense 4/10 -
11-102649475-C-T MMP10 c.502G>A p.G168R Missense 4/10 -
11-102649475-C-G MMP10 c.502G>C p.G168R Missense 4/10 -
11-102649472-C-A MMP10 c.505G>T p.D169Y Missense 4/10 -
11-102649462-G-A MMP10 c.515C>T p.S172F Missense 4/10 -
17-76869934-G-C TIMP2 c.198C>G p.I66M Missense 2/5 -
11-102649977-C-G MMP10 c.463G>C p.E155Q Missense 3/10 -
8-89180161-C-A MMP16 c.446G>T p.R149L Missense 4/10 -
8-89180149-C-T MMP16 c.458G>A p.R153H Missense 4/10 -
8-89180192-C-T MMP16 c.415G>A p.V139I Missense 4/10 -
8-89180156-C-A MMP16 c.451G>T p.A151S Missense 4/10 -
16-55519555-G-T MMP2 c.698G>T p.C233F Missense 5/13 -
16-55519555-G-A MMP2 c.698G>A p.C233Y Missense 5/13 -
16-55519519-T-C MMP2 c.662T>C p.V221A Missense 5/13 -
16-55519518-G-A MMP2 c.661G>A p.V221I Missense 5/13 -
16-55519636-C-G MMP2 c.779C>G p.S260C Missense 5/13 -
16-55519521-C-A MMP2 c.664C>A p.R222S Missense 5/13 -
16-55519539-G-A MMP2 c.682G>A p.A228T Missense 5/13 -
16-55519334-G-A MMP2 c.653G>A p.G218D Missense 4/13 -
16-55523689-C-A MMP2 c.1133C>A p.T378K Missense 7/13 -
16-55523607-T-C MMP2 c.1051T>C p.F351L Missense 7/13 -
16-55523609-C-A MMP2 c.1053C>A p.F351L Missense 7/13 -
16-55523609-C-G MMP2 c.1053C>G p.F351L Missense 7/13 -
16-55523710-G-A MMP2 c.1154G>A p.R385H Missense 7/13 -
13-20216292-C-G MPHOSPH8 c.251C>G p.T84R Missense 2/14 -
13-20216295-C-T MPHOSPH8 c.254C>T p.S85L Missense 2/14 -
13-20216300-G-A MPHOSPH8 c.259G>A p.D87N Missense 2/14 -
1-11193225-A-C MTOR c.5276T>G p.L1759R Missense 38/58 -
1-11174441-C-G MTOR c.7234G>C p.D2412H Missense 53/58 -
6-49419405-C-G MMUT c.1106G>C p.R369P Missense 6/13 -
6-49419397-T-C MMUT c.1114A>G p.I372V Missense 6/13 -
14-23898238-C-T MYH7 c.1333G>A p.A445T Missense 14/40 -
14-23900984-G-T MYH7 c.625C>A p.Q209K Missense 7/40 -
14-23900983-T-C MYH7 c.626A>G p.Q209R Missense 7/40 -
14-23900980-C-T MYH7 c.629G>A p.S210N Missense 7/40 -
14-23894032-C-G MYH7 c.2625G>C p.E875D Missense 22/40 -
14-23894032-C-A MYH7 c.2625G>T p.E875D Missense 22/40 -
14-23894029-C-G MYH7 c.2628G>C p.K876N Missense 22/40 -
14-23894029-C-A MYH7 c.2628G>T p.K876N Missense 22/40 -
14-23894021-G-A MYH7 c.2636C>T p.S879F Missense 22/40 -
14-23894041-C-G MYH7 c.2616G>C p.E872D Missense 22/40 -
12-118577336-C-T PEBP1 c.326C>T p.S109L Missense 3/4 -
14-23894041-C-A MYH7 c.2616G>T p.E872D Missense 22/40 -
12-111353546-C-T MYL2 c.142G>A p.D48N Missense 3/7 -
12-111353546-C-A MYL2 c.142G>T p.D48Y Missense 3/7 -
12-111353531-A-C MYL2 c.157T>G p.F53V Missense 3/7 -
12-111353543-G-T MYL2 c.145C>A p.L49M Missense 3/7 -
2-232322438-C-T NCL c.1363G>A p.D455N Missense 9/14 -
2-232322437-T-A NCL c.1364A>T p.D455V Missense 9/14 -
2-232322434-C-A NCL c.1367G>T p.G456V Missense 9/14 -
2-232322435-C-A NCL c.1366G>T p.G456W Missense 9/14 -
9-137326002-A-G RXRA c.1190A>G p.Y397C Missense 9/10 -
17-38508601-C-T RARA c.649C>T p.R217C Missense 6/9 -
17-38508602-G-A RARA c.650G>A p.R217H Missense 6/9 -
17-38508602-G-C RARA c.650G>C p.R217P Missense 6/9 -
17-38508593-C-T RARA c.641C>T p.S214L Missense 6/9 -
5-149932775-T-C NDST1 c.2530T>C p.S844P Missense 15/15 -
5-149927837-A-G NDST1 c.2203A>G p.T735A Missense 12/15 -
5-149927838-C-A NDST1 c.2204C>A p.T735N Missense 12/15 -
5-149927843-G-C NDST1 c.2209G>C p.G737R Missense 12/15 -
5-149927844-G-T NDST1 c.2210G>T p.G737V Missense 12/15 -
5-149927825-C-T NDST1 c.2191C>T p.H731Y Missense 12/15 -
10-21074831-C-T NEBL c.2890G>A p.D964N Missense 28/28 -
10-21074800-G-A NEBL c.2921C>T p.S974F Missense 28/28 -
2-233899379-G-A NEU2 c.755G>A p.G252E Missense 2/2 -
2-233899378-G-A NEU2 c.754G>A p.G252R Missense 2/2 -
2-233899378-G-C NEU2 c.754G>C p.G252R Missense 2/2 -
2-233899381-C-T NEU2 c.757C>T p.L253F Missense 2/2 -
2-233899250-G-A NEU2 c.626G>A p.G209E Missense 2/2 -
2-233899244-C-T NEU2 c.620C>T p.A207V Missense 2/2 -
11-65426220-C-G RELA c.633G>C p.E211D Missense 7/11 -
11-65426220-C-A RELA c.633G>T p.E211D Missense 7/11 -
11-65426222-C-G RELA c.631G>C p.E211Q Missense 7/11 -
11-65425878-G-A RELA c.757C>T p.R253W Missense 8/11 -
9-139393659-G-A NOTCH1 c.5987C>T p.T1996M Missense 32/34 -
9-139393579-C-T NOTCH1 c.6067G>A p.A2023T Missense 32/34 -
9-139393443-A-G NOTCH1 c.6088T>C p.S2030P Missense 33/34 -
9-139393448-C-T NOTCH1 c.6083G>A p.G2028D Missense 33/34 -
9-139393588-C-G NOTCH1 c.6058G>C p.D2020H Missense 32/34 -
5-32712325-C-T NPR3 c.443C>T p.S148L Missense 1/8 -
5-32712336-C-A NPR3 c.454C>A p.L152M Missense 1/8 -
1-200014674-G-A NR5A2 c.425G>A p.R142H Missense 4/8 -
1-200014572-G-A NR5A2 c.323G>A p.G108E Missense 4/8 -
1-200014571-G-A NR5A2 c.322G>A p.G108R Missense 4/8 -
1-200014571-G-C NR5A2 c.322G>C p.G108R Missense 4/8 -
1-200014698-G-T NR5A2 c.449G>T p.G150V Missense 4/8 -
1-200014658-C-T NR5A2 c.409C>T p.R137C Missense 4/8 -
1-115258734-T-G NRAS c.48A>C p.K16N Missense 2/7 -
1-115258734-T-A NRAS c.48A>T p.K16N Missense 2/7 -
1-115256463-G-C NRAS c.248C>G p.A83G Missense 3/7 -
1-115256457-T-C NRAS c.254A>G p.N85S Missense 3/7 -
10-33515169-C-T NRP1 c.1030G>A p.A344T Missense 7/17 -
10-33515168-G-A NRP1 c.1031C>T p.A344V Missense 7/17 -
10-33510682-G-A NRP1 c.1247C>T p.S416F Missense 8/17 -
10-33510678-C-G NRP1 c.1251G>C p.M417I Missense 8/17 -
10-33510678-C-T NRP1 c.1251G>A p.M417I Missense 8/17 -
10-33510678-C-A NRP1 c.1251G>T p.M417I Missense 8/17 -
10-33515162-G-A NRP1 c.1037C>T p.S346L Missense 7/17 -
1-156849833-G-C NTRK1 c.2089G>C p.E697Q Missense 16/17 -
12-118577335-T-A PEBP1 c.325T>A p.S109T Missense 3/4 -
1-156849143-G-A NTRK1 c.2035G>A p.D679N Missense 15/17 -
15-88423631-C-T NTRK3 c.2204G>A p.R735H Missense 19/20 -
15-88423623-G-T NTRK3 c.2212C>A p.P738T Missense 19/20 -
15-88420209-G-A NTRK3 c.2477C>T p.A826V Missense 20/20 -
15-88420231-C-T NTRK3 c.2455G>A p.E819K Missense 20/20 -
5-37303434-C-A NUP155 c.3245G>T p.W1082L Missense 28/35 -
5-37303429-A-C NUP155 c.3250T>G p.Y1084D Missense 28/35 -
5-37303423-C-T NUP155 c.3256G>A p.E1086K Missense 28/35 -
5-37303498-C-G NUP155 c.3181G>C p.E1061Q Missense 28/35 -
7-135307538-G-C NUP205 c.4344G>C p.M1448I Missense 31/43 -
7-135307538-G-A NUP205 c.4344G>A p.M1448I Missense 31/43 -
7-135307538-G-T NUP205 c.4344G>T p.M1448I Missense 31/43 -
7-135307536-A-C NUP205 c.4342A>C p.M1448L Missense 31/43 -
7-135307536-A-T NUP205 c.4342A>T p.M1448L Missense 31/43 -
8-54141939-C-T OPRK1 c.1061G>A p.R354Q Missense 4/4 -
8-54141940-G-A OPRK1 c.1060C>T p.R354W Missense 4/4 -
8-54141918-C-T OPRK1 c.1082G>A p.R361Q Missense 4/4 -
8-54141954-T-C OPRK1 c.1046A>G p.K349R Missense 4/4 -
8-54141973-C-T OPRK1 c.1027G>A p.D343N Missense 4/4 -
8-54141904-C-T OPRK1 c.1096G>A p.D366N Missense 4/4 -
8-54141948-C-T OPRK1 c.1052G>A p.R351K Missense 4/4 -
8-54163341-C-T OPRK1 c.257G>A p.R86Q Missense 2/4 -
1-17548858-C-T PADI1 c.166C>T p.R56C Missense 2/16 -
1-17548859-G-A PADI1 c.167G>A p.R56H Missense 2/16 -
1-17548870-A-G PADI1 c.178A>G p.K60E Missense 2/16 -
5-140751219-G-A PCDHGB3 c.1258G>A p.V420M Missense 1/4 -
5-140751223-C-T PCDHGB3 c.1262C>T p.T421M Missense 1/4 -
1-55512212-A-G PCSK9 c.416A>G p.H139R Missense 3/12 -
1-55512211-C-T PCSK9 c.415C>T p.H139Y Missense 3/12 -
1-55509580-C-T PCSK9 c.272C>T p.S91L Missense 2/12 -
1-55509579-T-A PCSK9 c.271T>A p.S91T Missense 2/12 -
1-55509595-G-A PCSK9 c.287G>A p.R96H Missense 2/12 -
12-54966391-A-G PDE1B c.601A>G p.T201A Missense 7/16 -
8-66639126-G-C PDE7A c.904C>G p.L302V Missense 9/13 -
8-66639113-C-A PDE7A c.917G>T p.S306I Missense 9/13 -
8-66639114-T-A PDE7A c.916A>T p.S306C Missense 9/13 -
12-118577332-G-T PEBP1 c.322G>T p.G108C Missense 3/4 -
12-118577333-G-A PEBP1 c.323G>A p.G108D Missense 3/4 -
4-74719786-G-A PF4V1 c.262G>A p.D88N Missense 3/3 -
4-74719786-G-T PF4V1 c.262G>T p.D88Y Missense 3/3 -
4-74719545-C-T PF4V1 c.146C>T p.T49I Missense 2/3 -
4-74719555-G-T PF4V1 c.156G>T p.Q52H Missense 2/3 -
4-74719555-G-C PF4V1 c.156G>C p.Q52H Missense 2/3 -
22-41863526-G-A PHF5A c.169C>T p.R57C Missense 3/4 -
22-41863530-C-A PHF5A c.165G>T p.Q55H Missense 3/4 -
22-41863530-C-G PHF5A c.165G>C p.Q55H Missense 3/4 -
3-178916929-G-A PIK3CA c.316G>A p.G106S Missense 2/21 -
3-178916923-C-A PIK3CA c.310C>A p.P104T Missense 2/21 -
19-14208452-C-T PRKACA c.581G>A p.G194D Missense 7/10 -
3-178952075-A-T PIK3CA c.3130A>T p.N1044Y Missense 21/21 -
3-178948096-G-T PIK3CA c.2868G>T p.L956F Missense 20/21 -
3-178948096-G-C PIK3CA c.2868G>C p.L956F Missense 20/21 -
3-178952079-A-T PIK3CA c.3134A>T p.D1045V Missense 21/21 -
3-178948101-A-G PIK3CA c.2873A>G p.Q958R Missense 20/21 -
5-67589592-A-G PIK3R1 c.1355A>G p.Y452C Missense 11/16 -
5-67591137-G-A PIK3R1 c.1730G>A p.R577K Missense 13/16 -
3-178952063-A-G PIK3CA c.3118A>G p.M1040V Missense 21/21 -
5-67589537-G-A PIK3R1 c.1300G>A p.D434N Missense 11/16 -
5-67589556-A-G PIK3R1 c.1319A>G p.D440G Missense 11/16 -
3-178921551-A-C PIK3CA c.1033A>C p.N345H Missense 5/21 -
3-178921551-A-T PIK3CA c.1033A>T p.N345Y Missense 5/21 -
5-67591086-A-G PIK3R1 c.1679A>G p.D560G Missense 13/16 -
3-178922366-T-A PIK3CA c.1135T>A p.S379T Missense 6/21 -
5-67591102-C-G PIK3R1 c.1695C>G p.S565R Missense 13/16 -
5-67591102-C-A PIK3R1 c.1695C>A p.S565R Missense 13/16 -
5-67591100-A-C PIK3R1 c.1693A>C p.S565R Missense 13/16 -
3-178922370-A-G PIK3CA c.1139A>G p.N380S Missense 6/21 -
5-67591077-G-C PIK3R1 c.1670G>C p.R557P Missense 13/16 -
5-67591077-G-A PIK3R1 c.1670G>A p.R557Q Missense 13/16 -
5-67591109-C-A PIK3R1 c.1702C>A p.P568T Missense 13/16 -
3-178927451-C-T PIK3CA c.1214C>T p.S405F Missense 7/21 -
3-178937410-G-A PIK3CA c.1798G>A p.E600K Missense 12/21 -
3-178937411-A-T PIK3CA c.1799A>T p.E600V Missense 12/21 -
5-67589135-G-T PIK3R1 c.1123G>T p.G375W Missense 10/16 -
19-18278076-G-T PIK3R2 c.1696G>T p.D566Y Missense 13/16 -
19-14208295-C-G PRKACA c.643G>C p.G215R Missense 8/10 -
19-14203941-C-G PRKACA c.1039G>C p.E347Q Missense 10/10 -
1-155264372-C-T PKLR c.866G>A p.R289Q Missense 6/11 -
1-155264372-C-A PKLR c.866G>T p.R289L Missense 6/11 -
1-155264172-C-G PKLR c.970G>C p.D324H Missense 7/11 -
1-155264172-C-T PKLR c.970G>A p.D324N Missense 7/11 -
1-155264286-C-T PKLR c.952G>A p.E318K Missense 6/11 -
1-155264460-C-T PKLR c.778G>A p.D260N Missense 6/11 -
15-72502196-C-T PKM c.383G>A p.G128D Missense 5/11 -
15-72502197-C-T PKM c.382G>A p.G128S Missense 5/11 -
6-161139371-G-A PLG c.833G>A p.G278E Missense 8/19 -
6-161139840-C-T PLG c.1066C>T p.P356S Missense 9/19 -
6-161139844-T-A PLG c.1070T>A p.V357E Missense 9/19 -
6-161139847-C-T PLG c.1073C>T p.S358F Missense 9/19 -
6-161139850-C-T PLG c.1076C>T p.T359M Missense 9/19 -
6-161139852-G-A PLG c.1078G>A p.E360K Missense 9/19 -
6-161139829-G-T PLG c.1055G>T p.C352F Missense 9/19 -
6-161134091-G-A PLG c.481G>A p.G161R Missense 5/19 -
6-161134091-G-C PLG c.481G>C p.G161R Missense 5/19 -
6-161134091-G-T PLG c.481G>T p.G161W Missense 5/19 -
6-161134092-G-A PLG c.482G>A p.G161E Missense 5/19 -
6-161134082-G-A PLG c.472G>A p.D158N Missense 5/19 -
6-161134139-G-A PLG c.529G>A p.D177N Missense 5/19 -
6-161134090-G-T PLG c.480G>T p.Q160H Missense 5/19 -
6-161127524-T-A PLG c.135T>A p.S45R Missense 2/19 -
6-161134090-G-C PLG c.480G>C p.Q160H Missense 5/19 -
6-161132143-G-C PLG c.327G>C p.K109N Missense 4/19 -
6-161132143-G-T PLG c.327G>T p.K109N Missense 4/19 -
6-161134133-T-A PLG c.523T>A p.Y175N Missense 5/19 -
6-161134100-T-A PLG c.490T>A p.C164S Missense 5/19 -
6-161134101-G-C PLG c.491G>C p.C164S Missense 5/19 -
6-161132128-G-C PLG c.312G>C p.K104N Missense 4/19 -
6-161132128-G-T PLG c.312G>T p.K104N Missense 4/19 -
6-161139388-C-T PLG c.850C>T p.R284C Missense 8/19 -
6-161139389-G-A PLG c.851G>A p.R284H Missense 8/19 -
6-161139758-C-G PLG c.984C>G p.D328E Missense 9/19 -
6-161139758-C-A PLG c.984C>A p.D328E Missense 9/19 -
6-161139757-A-G PLG c.983A>G p.D328G Missense 9/19 -
6-161139374-C-A PLG c.836C>A p.T279K Missense 8/19 -
6-161139747-C-T PLG c.973C>T p.R325C Missense 9/19 -
6-161139397-G-C PLG c.859G>C p.V287L Missense 8/19 -
6-161139397-G-T PLG c.859G>T p.V287L Missense 8/19 -
6-161139344-C-A PLG c.806C>A p.S269Y Missense 8/19 -
6-161160210-G-A PLG c.1988G>A p.R663Q Missense 16/19 -
6-161173245-A-G PLG c.2224A>G p.T742A Missense 18/19 -
6-161173248-G-A PLG c.2227G>A p.E743K Missense 18/19 -
6-161160215-G-C PLG c.1993G>C p.D665H Missense 16/19 -
6-161173234-G-A PLG c.2213G>A p.R738K Missense 18/19 -
6-161174038-A-C PLG c.2378A>C p.Y793S Missense 19/19 -
6-161127524-T-G PLG c.135T>G p.S45R Missense 2/19 -
6-161127532-A-G PLG c.143A>G p.E48G Missense 2/19 -
18-51810326-C-T POLI c.1010C>T p.S337L Missense 7/10 -
18-51813698-G-A POLI c.1115G>A p.R372H Missense 8/10 -
18-51813701-G-T POLI c.1118G>T p.R373L Missense 8/10 -
18-51813703-T-C POLI c.1120T>C p.Y374H Missense 8/10 -
18-51813712-G-C POLI c.1129G>C p.E377Q Missense 8/10 -
18-51813728-G-T POLI c.1145G>T p.R382L Missense 8/10 -
4-57891066-G-C POLR2B c.2979G>C p.K993N Missense 22/25 -
4-57891066-G-T POLR2B c.2979G>T p.K993N Missense 22/25 -
11-842418-C-G POLR2L c.91G>C p.E31Q Missense 1/2 -
4-57891127-C-G POLR2B c.3040C>G p.L1014V Missense 22/25 -
4-57891140-A-G POLR2B c.3053A>G p.Y1018C Missense 22/25 -
7-124493078-G-A POT1 c.817C>T p.R273W Missense 10/19 -
7-124493080-C-A POT1 c.815G>T p.G272V Missense 10/19 -
7-124503468-T-A POT1 c.482A>T p.Y161F Missense 8/19 -
7-124493170-T-C POT1 c.725A>G p.Y242C Missense 10/19 -
7-124493162-G-A POT1 c.733C>T p.H245Y Missense 10/19 -
7-124532343-G-A POT1 c.101C>T p.P34L Missense 6/19 -
12-81678037-C-T PPFIA2 c.2971G>A p.A991T Missense 25/33 -
12-81678036-G-A PPFIA2 c.2972C>T p.A991V Missense 25/33 -
12-81688628-G-T PPFIA2 c.2911C>A p.P971T Missense 24/33 -
12-81688624-G-A PPFIA2 c.2915C>T p.T972I Missense 24/33 -
6-36823635-C-T PPIL1 c.455G>A p.R152H Missense 4/4 -
6-36823648-T-C PPIL1 c.442A>G p.N148D Missense 4/4 -
6-36823644-G-A PPIL1 c.446C>T p.S149F Missense 4/4 -
20-25255253-G-T PYGB c.554G>T p.R185L Missense 5/20 -
4-101947149-T-A PPP3CA c.1439A>T p.N480I Missense 14/14 -
4-101947148-A-C PPP3CA c.1440T>G p.N480K Missense 14/14 -
4-101947148-A-T PPP3CA c.1440T>A p.N480K Missense 14/14 -
4-101947159-C-A PPP3CA c.1429G>T p.D477Y Missense 14/14 -
4-101947147-C-T PPP3CA c.1441G>A p.E481K Missense 14/14 -
4-102020786-A-T PPP3CA c.478T>A p.F160I Missense 4/14 -
19-46891954-C-T PPP5C c.1321C>T p.R441C Missense 11/13 -
19-46891955-G-A PPP5C c.1322G>A p.R441H Missense 11/13 -
19-46891949-G-A PPP5C c.1316G>A p.G439E Missense 11/13 -
19-46891948-G-A PPP5C c.1315G>A p.G439R Missense 11/13 -
19-46891948-G-C PPP5C c.1315G>C p.G439R Missense 11/13 -
20-25255328-C-G PYGB c.629C>G p.T210S Missense 5/20 -
19-46891878-G-T PPP5C c.1245G>T p.L415F Missense 11/13 -
19-46891878-G-C PPP5C c.1245G>C p.L415F Missense 11/13 -
6-105800950-T-A PREP c.720A>T p.L240F Missense 7/15 -
6-105800950-T-G PREP c.720A>C p.L240F Missense 7/15 -
6-105781321-T-A PREP c.883A>T p.N295Y Missense 8/15 -
6-105816780-C-T PREP c.715G>A p.E239K Missense 6/15 -
6-105800946-C-T PREP c.724G>A p.D242N Missense 7/15 -
6-105800933-T-A PREP c.737A>T p.Y246F Missense 7/15 -
6-105781315-C-T PREP c.889G>A p.G297R Missense 8/15 -
6-105781315-C-G PREP c.889G>C p.G297R Missense 8/15 -
1-57169955-C-T PRKAA2 c.1100C>T p.P367L Missense 7/9 -
1-57169954-C-A PRKAA2 c.1099C>A p.P367T Missense 7/9 -
20-25255327-A-T PYGB c.628A>T p.T210S Missense 5/20 -
1-57169951-C-T PRKAA2 c.1096C>T p.H366Y Missense 7/9 -
1-57169957-G-C PRKAA2 c.1102G>C p.E368Q Missense 7/9 -
17-64738853-G-A PRKCA c.1499G>A p.G500E Missense 13/17 -
17-64738852-G-A PRKCA c.1498G>A p.G500R Missense 13/17 -
17-64738852-G-C PRKCA c.1498G>C p.G500R Missense 13/17 -
17-64738862-A-G PRKCA c.1508A>G p.D503G Missense 13/17 -
19-54394955-T-C PRKCG c.557T>C p.M186T Missense 6/18 -
19-54394954-A-G PRKCG c.556A>G p.M186V Missense 6/18 -
19-54395814-C-G PRKCG c.738C>G p.D246E Missense 7/18 -
19-54395814-C-A PRKCG c.738C>A p.D246E Missense 7/18 -
19-54395818-G-C PRKCG c.742G>C p.D248H Missense 7/18 -
19-54395039-C-A PRKCG c.641C>A p.T214K Missense 6/18 -
19-54395051-C-G PRKCG c.653C>G p.T218R Missense 6/18 -
19-54394966-G-C PRKCG c.568G>C p.G190R Missense 6/18 -
12-3677968-A-G PRMT8 c.578A>G p.Y193C Missense 5/10 -
19-40486221-C-G PSMC4 c.947C>G p.T316S Missense 9/11 -
19-40486220-A-T PSMC4 c.946A>T p.T316S Missense 9/11 -
19-40485867-A-C PSMC4 c.817A>C p.K273Q Missense 7/11 -
19-40480518-C-T PSMC4 c.557C>T p.T186M Missense 5/11 -
14-35778166-C-A PSMA6 c.218C>A p.T73N Missense 3/7 -
14-35780021-C-T PSMA6 c.329C>T p.P110L Missense 4/7 -
14-35780020-C-T PSMA6 c.328C>T p.P110S Missense 4/7 -
17-4701365-G-A PSMB6 c.494G>A p.G165E Missense 5/6 -
17-4701364-G-A PSMB6 c.493G>A p.G165R Missense 5/6 -
17-4701364-G-C PSMB6 c.493G>C p.G165R Missense 5/6 -
17-4701605-C-A PSMB6 c.608C>A p.S203Y Missense 6/6 -
17-4700075-C-T PSMB6 c.155C>T p.S52F Missense 2/6 -
17-4701590-T-C PSMB6 c.593T>C p.M198T Missense 6/6 -
1-36068948-G-A PSMB2 c.526C>T p.P176S Missense 6/6 -
1-36068944-G-A PSMB2 c.530C>T p.T177I Missense 6/6 -
1-36068938-C-G PSMB2 c.536G>C p.S179T Missense 6/6 -
17-30771555-C-G PSMD11 c.14C>G p.A5G Missense 1/14 -
17-30771555-C-T PSMD11 c.14C>T p.A5V Missense 1/14 -
17-30771560-G-T PSMD11 c.19G>T p.V7L Missense 1/14 -
17-30771549-C-T PSMD11 c.8C>T p.A3V Missense 1/14 -
20-25255252-C-T PYGB c.553C>T p.R185C Missense 5/20 -
20-25255253-G-A PYGB c.554G>A p.R185H Missense 5/20 -
20-25255330-C-T PYGB c.631C>T p.P211S Missense 5/20 -
20-25255336-G-A PYGB c.637G>A p.G213S Missense 5/20 -
19-8464939-C-T RAB11B c.233C>T p.S78F Missense 2/5 -
19-8464942-C-T RAB11B c.236C>T p.A79V Missense 2/5 -
19-11446341-C-A RAB3D c.347G>T p.W116L Missense 3/5 -
19-11446342-A-T RAB3D c.346T>A p.W116R Missense 3/5 -
19-11446342-A-G RAB3D c.346T>C p.W116R Missense 3/5 -
19-11446354-C-T RAB3D c.334G>A p.A112T Missense 3/5 -
19-11446353-G-A RAB3D c.335C>T p.A112V Missense 3/5 -
19-11446434-C-T RAB3D c.254G>A p.R85H Missense 3/5 -
19-11446396-A-G RAB3D c.292T>C p.F98L Missense 3/5 -
19-11446394-G-T RAB3D c.294C>A p.F98L Missense 3/5 -
19-11446394-G-C RAB3D c.294C>G p.F98L Missense 3/5 -
2-121036308-G-A RALB c.68G>A p.G23E Missense 2/5 -
2-121036307-G-A RALB c.67G>A p.G23R Missense 2/5 -
2-121036307-G-C RALB c.67G>C p.G23R Missense 2/5 -
2-121043571-G-A RALB c.236G>A p.R79Q Missense 3/5 -
2-121047205-G-T RALB c.373G>T p.V125F Missense 4/5 -
2-121047205-G-A RALB c.373G>A p.V125I Missense 4/5 -
2-121047295-G-A RALB c.463G>A p.V155M Missense 4/5 -
2-121047208-G-C RALB c.376G>C p.V126L Missense 4/5 -
2-121047208-G-T RALB c.376G>T p.V126L Missense 4/5 -
20-32660008-C-T RALY c.128C>T p.S43F Missense 3/10 -
20-32660065-A-G RALY c.185A>G p.Y62C Missense 3/10 -
20-32659995-G-A RALY c.115G>A p.E39K Missense 3/10 -
13-48953757-T-C RB1 c.1360T>C p.Y454H Missense 14/27 -
13-48953748-C-T RB1 c.1351C>T p.R451C Missense 14/27 -
13-48951169-A-T RB1 c.1331A>T p.Q444L Missense 13/27 -
13-48955569-C-A RB1 c.1685C>A p.A562E Missense 17/27 -
13-48955568-G-C RB1 c.1684G>C p.A562P Missense 17/27 -
13-48955572-G-C RB1 c.1688G>C p.W563S Missense 17/27 -
20-18471080-G-A RBBP9 c.293C>T p.A98V Missense 4/5 -
20-18474623-G-A RBBP9 c.227C>T p.S76F Missense 3/5 -
20-18471087-C-T RBBP9 c.286G>A p.V96M Missense 4/5 -
12-21630861-G-T RECQL c.743C>A p.A248E Missense 7/15 -
12-21630862-C-T RECQL c.742G>A p.A248T Missense 7/15 -
12-21643210-C-G RECQL c.317G>C p.G106A Missense 4/15 -
12-21636367-G-C RECQL c.643C>G p.R215G Missense 6/15 -
12-21636387-T-A RECQL c.623A>T p.Y208F Missense 6/15 -
11-65427643-C-T RELA c.379G>A p.E127K Missense 5/11 -
11-65427643-C-G RELA c.379G>C p.E127Q Missense 5/11 -
11-65427630-C-G RELA c.392G>C p.S131T Missense 5/11 -
11-65427624-C-T RELA c.398G>A p.R133H Missense 5/11 -
1-204131262-C-G REN c.128G>C p.R43P Missense 2/10 -
10-43617412-T-A RET c.2749T>A p.W917R Missense 16/20 -
10-43617412-T-C RET c.2749T>C p.W917R Missense 16/20 -
10-43617458-G-C RET c.2795G>C p.S932T Missense 16/20 -
7-151188085-G-A RHEB c.68C>T p.T23M Missense 2/8 -
7-151188083-T-C RHEB c.70A>G p.I24V Missense 2/8 -
14-21360228-G-A RNASE3 c.383G>A p.R128K Missense 2/2 -
14-21360228-G-C RNASE3 c.383G>C p.R128T Missense 2/2 -
14-21360166-A-T RNASE3 c.321A>T p.L107F Missense 2/2 -
14-21360166-A-C RNASE3 c.321A>C p.L107F Missense 2/2 -
14-21360234-G-A RNASE3 c.389G>A p.G130E Missense 2/2 -
14-21360176-G-C RNASE3 c.331G>C p.D111H Missense 2/2 -
3-196229774-T-C RNF168 c.271A>G p.R91G Missense 1/6 -
3-196229767-G-C RNF168 c.278C>G p.S93C Missense 1/6 -
3-196229767-G-A RNF168 c.278C>T p.S93F Missense 1/6 -
3-196229779-T-C RNF168 c.266A>G p.K89R Missense 1/6 -
2-55460509-C-G RPS27A c.59C>G p.S20W Missense 3/6 -
2-55461327-A-G RPS27A c.176A>G p.Y59C Missense 4/6 -
1-45243706-G-T RPS8 c.422G>T p.R141L Missense 5/6 -
1-45243706-G-A RPS8 c.422G>A p.R141Q Missense 5/6 -
3-127816231-C-T RUVBL1 c.928G>A p.E310K Missense 8/11 -
19-49514495-C-T RUVBL2 c.929C>T p.S310F Missense 11/15 -
19-49510338-C-T RUVBL2 c.329C>T p.S110F Missense 5/15 -
19-49510337-T-C RUVBL2 c.328T>C p.S110P Missense 5/15 -
9-137320990-G-T RXRA c.947G>T p.R316L Missense 7/10 -
9-137320989-C-T RXRA c.946C>T p.R316C Missense 7/10 -
9-137321028-G-A RXRA c.985G>A p.G329R Missense 7/10 -
9-137321028-G-C RXRA c.985G>C p.G329R Missense 7/10 -
9-137320981-T-C RXRA c.938T>C p.F313S Missense 7/10 -
11-57099707-G-A SSRP1 c.920C>T p.S307L Missense 8/17 -
9-137320993-C-T RXRA c.950C>T p.S317F Missense 7/10 -
9-137320977-T-G RXRA c.934T>G p.S312A Missense 7/10 -
9-137309139-A-T RXRA c.746A>T p.Y249F Missense 5/10 -
1-35657111-G-C SFPQ c.848C>G p.S283C Missense 2/10 -
1-35657000-T-C SFPQ c.959A>G p.Y320C Missense 2/10 -
1-35656592-G-T SFPQ c.1022C>A p.S341Y Missense 3/10 -
1-35657099-C-T SFPQ c.860G>A p.R287K Missense 2/10 -
1-35657072-C-A SFPQ c.887G>T p.R296L Missense 2/10 -
1-35656577-T-A SFPQ c.1037A>T p.E346V Missense 3/10 -
X-80532630-C-A SH3BGRL c.193C>A p.L65M Missense 2/4 -
X-80532631-T-C SH3BGRL c.194T>C p.L65P Missense 2/4 -
X-80457737-C-T SH3BGRL c.38C>T p.S13F Missense 1/4 -
15-84245363-G-A SH3GL3 c.494G>A p.R165H Missense 6/9 -
15-84245363-G-T SH3GL3 c.494G>T p.R165L Missense 6/9 -
15-84245426-C-T SH3GL3 c.557C>T p.A186V Missense 6/9 -
15-84245374-G-A SH3GL3 c.505G>A p.D169N Missense 6/9 -
3-164786893-C-A SI c.346G>T p.V116F Missense 4/48 -
3-164785163-G-C SI c.600C>G p.S200R Missense 6/48 -
3-164785163-G-T SI c.600C>A p.S200R Missense 6/48 -
3-164785165-T-G SI c.598A>C p.S200R Missense 6/48 -
3-164786890-G-T SI c.349C>A p.Q117K Missense 4/48 -
19-51961268-C-T SIGLEC8 c.374G>A p.R125Q Missense 1/7 -
19-51961269-G-A SIGLEC8 c.373C>T p.R125W Missense 1/7 -
19-51961243-C-A SIGLEC8 c.399G>T p.W133C Missense 1/7 -
19-51961243-C-G SIGLEC8 c.399G>C p.W133C Missense 1/7 -
19-51961455-G-A SIGLEC8 c.187C>T p.H63Y Missense 1/7 -
19-51961271-A-T SIGLEC8 c.371T>A p.F124Y Missense 1/7 -
19-51961275-A-G SIGLEC8 c.367T>C p.F123L Missense 1/7 -
19-51961273-G-T SIGLEC8 c.369C>A p.F123L Missense 1/7 -
19-51961273-G-C SIGLEC8 c.369C>G p.F123L Missense 1/7 -
19-51961425-G-T SIGLEC8 c.217C>A p.P73T Missense 1/7 -
20-1617104-G-A SIRPG c.478C>T p.P160S Missense 3/6 -
20-1617104-G-T SIRPG c.478C>A p.P160T Missense 3/6 -
20-1617094-G-C SIRPG c.488C>G p.T163R Missense 3/6 -
20-1616836-C-T SIRPG c.746G>A p.R249Q Missense 3/6 -
20-1616927-C-T SIRPG c.655G>A p.D219N Missense 3/6 -
18-48591889-A-C SMAD4 c.1052A>C p.D351A Missense 9/12 -
18-48591900-G-T SMAD4 c.1063G>T p.D355Y Missense 9/12 -
18-48591892-G-C SMAD4 c.1055G>C p.G352A Missense 9/12 -
18-48591892-G-T SMAD4 c.1055G>T p.G352V Missense 9/12 -
18-48591924-T-A SMAD4 c.1087T>A p.C363S Missense 9/12 -
18-48591925-G-C SMAD4 c.1088G>C p.C363S Missense 9/12 -
18-48591854-T-A SMAD4 c.1017T>A p.F339L Missense 9/12 -
18-48591854-T-G SMAD4 c.1017T>G p.F339L Missense 9/12 -
18-48593400-G-A SMAD4 c.1151G>A p.G384D Missense 10/12 -
15-67482846-C-T SMAD3 c.1250C>T p.P417L Missense 9/9 -
18-48593393-C-G SMAD4 c.1144C>G p.H382D Missense 10/12 -
18-48604748-T-A SMAD4 c.1570T>A p.W524R Missense 12/12 -
2-85808708-T-C VAMP8 c.172T>C p.F58L Missense 3/3 -
18-48604748-T-C SMAD4 c.1570T>C p.W524R Missense 12/12 -
18-48593397-T-G SMAD4 c.1148T>G p.I383R Missense 10/12 -
18-48593471-T-C SMAD4 c.1222T>C p.F408L Missense 10/12 -
18-48593473-T-A SMAD4 c.1224T>A p.F408L Missense 10/12 -
18-48593473-T-G SMAD4 c.1224T>G p.F408L Missense 10/12 -
18-48604747-C-G SMAD4 c.1569C>G p.C523W Missense 12/12 -
18-48604690-T-G SMAD4 c.1512T>G p.S504R Missense 12/12 -
18-48604690-T-A SMAD4 c.1512T>A p.S504R Missense 12/12 -
18-48604688-A-C SMAD4 c.1510A>C p.S504R Missense 12/12 -
18-48604699-A-C SMAD4 c.1521A>C p.K507N Missense 12/12 -
18-48604699-A-T SMAD4 c.1521A>T p.K507N Missense 12/12 -
2-85808700-C-T VAMP8 c.164C>T p.S55F Missense 3/3 -
2-85808710-C-A VAMP8 c.174C>A p.F58L Missense 3/3 -
2-85808710-C-G VAMP8 c.174C>G p.F58L Missense 3/3 -
15-101827180-T-C SNRPA1 c.392A>G p.Y131C Missense 5/9 -
15-101827177-C-T SNRPA1 c.395G>A p.R132K Missense 5/9 -
21-33036175-C-G SOD1 c.145C>G p.H49D Missense 2/5 -
21-33036176-A-C SOD1 c.146A>C p.H49P Missense 2/5 -
21-33036177-T-A SOD1 c.147T>A p.H49Q Missense 2/5 -
21-33039646-C-G SOD1 c.315C>G p.I105M Missense 4/5 -
21-33038773-G-C SOD1 c.181G>C p.A61P Missense 3/5 -
21-33036154-G-T SOD1 c.124G>T p.G42C Missense 2/5 -
21-33039678-G-T SOD1 c.347G>T p.R116L Missense 4/5 -
2-73118518-C-A SPR c.638C>A p.S213Y Missense 3/3 -
2-73118520-G-A SPR c.640G>A p.V214M Missense 3/3 -
11-57099698-A-G SSRP1 c.929T>C p.L310P Missense 8/17 -
11-57099698-A-C SSRP1 c.929T>G p.L310R Missense 8/17 -
19-1220715-C-T STK11 c.733C>T p.L245F Missense 5/10 -
9-93650807-G-A SYK c.1733G>A p.G578E Missense 13/14 -
9-93650053-C-T SYK c.1604C>T p.P535L Missense 12/14 -
9-93650812-G-A SYK c.1738G>A p.E580K Missense 13/14 -
9-93650814-A-C SYK c.1740A>C p.E580D Missense 13/14 -
9-93650814-A-T SYK c.1740A>T p.E580D Missense 13/14 -
9-93650798-G-A SYK c.1724G>A p.G575E Missense 13/14 -
8-120774820-A-C TAF2 c.2393T>G p.M798R Missense 19/26 -
8-120774830-G-A TAF2 c.2383C>T p.R795C Missense 19/26 -
8-120774829-C-T TAF2 c.2384G>A p.R795H Missense 19/26 -
8-120790278-T-C TAF2 c.2345A>G p.N782S Missense 18/26 -
16-71604239-C-T TAT c.974G>A p.G325E Missense 9/12 -
16-71604240-C-T TAT c.973G>A p.G325R Missense 9/12 -
16-71604240-C-G TAT c.973G>C p.G325R Missense 9/12 -
16-71609874-C-G TAT c.291G>C p.M97I Missense 3/12 -
16-71609874-C-T TAT c.291G>A p.M97I Missense 3/12 -
16-71609874-C-A TAT c.291G>T p.M97I Missense 3/12 -
8-73921154-C-G TERF1 c.33C>G p.S11R Missense 1/10 -
8-73921154-C-A TERF1 c.33C>A p.S11R Missense 1/10 -
8-73921152-A-C TERF1 c.31A>C p.S11R Missense 1/10 -
8-73921159-G-C TERF1 c.38G>C p.R13P Missense 1/10 -
8-73921159-G-T TERF1 c.38G>T p.R13L Missense 1/10 -
3-133478150-G-A TF c.1180G>A p.E394K Missense 9/17 -
3-133496071-G-A TF c.2051G>A p.C684Y Missense 16/17 -
3-133496080-C-T TF c.2060C>T p.S687L Missense 16/17 -
3-30713521-G-C TGFBR2 c.846G>C p.E282D Missense 4/7 -
3-30713521-G-T TGFBR2 c.846G>T p.E282D Missense 4/7 -
X-12939545-C-A TLR8 c.2386C>A p.P796T Missense 2/2 -
X-12939545-C-T TLR8 c.2386C>T p.P796S Missense 2/2 -
X-12939453-C-A TLR8 c.2294C>A p.S765Y Missense 2/2 -
X-12939521-G-C TLR8 c.2362G>C p.D788H Missense 2/2 -
X-12939521-G-A TLR8 c.2362G>A p.D788N Missense 2/2 -
X-12939520-G-C TLR8 c.2361G>C p.M787I Missense 2/2 -
X-12939520-G-A TLR8 c.2361G>A p.M787I Missense 2/2 -
X-12939520-G-T TLR8 c.2361G>T p.M787I Missense 2/2 -
X-12939510-G-A TLR8 c.2351G>A p.R784Q Missense 2/2 -
X-12939468-A-G TLR8 c.2309A>G p.H770R Missense 2/2 -
4-69343137-C-A TMPRSS11E c.758C>A p.P253H Missense 8/10 -
4-69344584-C-T TMPRSS11E c.985C>T p.L329F Missense 9/10 -
4-69343128-C-A TMPRSS11E c.749C>A p.T250K Missense 8/10 -
4-69343128-C-T TMPRSS11E c.749C>T p.T250I Missense 8/10 -
4-69343132-A-G TMPRSS11E c.753A>G p.I251M Missense 8/10 -
4-69343131-T-C TMPRSS11E c.752T>C p.I251T Missense 8/10 -
4-69343140-C-T TMPRSS11E c.761C>T p.S254L Missense 8/10 -
2-152226605-G-A TNFAIP6 c.466G>A p.E156K Missense 4/6 -
2-152226607-A-C TNFAIP6 c.468A>C p.E156D Missense 4/6 -
2-152226607-A-T TNFAIP6 c.468A>T p.E156D Missense 4/6 -
2-152235923-C-T TNFAIP6 c.710C>T p.A237V Missense 6/6 -
17-38556186-G-T TOP2A c.3134C>A p.S1045Y Missense 24/35 -
17-38556186-G-A TOP2A c.3134C>T p.S1045F Missense 24/35 -
17-38556205-C-T TOP2A c.3115G>A p.G1039R Missense 24/35 -
17-38556205-C-G TOP2A c.3115G>C p.G1039R Missense 24/35 -
17-38555031-A-C TOP2A c.3447T>G p.N1149K Missense 26/35 -
17-38555031-A-T TOP2A c.3447T>A p.N1149K Missense 26/35 -
17-7574004-G-T TP53 c.1023C>A p.F341L Missense 10/11 -
17-7574004-G-C TP53 c.1023C>G p.F341L Missense 10/11 -
17-7574033-T-A TP53 c.994A>T p.I332F Missense 10/11 -
3-189585721-G-A TP63 c.982G>A p.E328K Missense 7/14 -
3-189585724-A-C TP63 c.985A>C p.T329P Missense 7/14 -
3-189582120-G-A TP63 c.679G>A p.A227T Missense 5/14 -
18-29175117-A-T TTR c.235A>T p.T79S Missense 3/4 -
12-72388229-C-A TPH2 c.952C>A p.H318N Missense 8/11 -
12-72388230-A-G TPH2 c.953A>G p.H318R Missense 8/11 -
12-72416243-C-A TPH2 c.1133C>A p.A378E Missense 9/11 -
12-72416246-G-A TPH2 c.1136G>A p.G379E Missense 9/11 -
12-72416251-C-A TPH2 c.1141C>A p.L381I Missense 9/11 -
12-72388224-C-G TPH2 c.947C>G p.T316R Missense 8/11 -
12-72372834-G-A TPH2 c.908G>A p.R303Q Missense 7/11 -
7-144288615-C-A TPK1 c.402G>T p.Q134H Missense 7/9 -
7-144288615-C-G TPK1 c.402G>C p.Q134H Missense 7/9 -
7-144288616-T-A TPK1 c.401A>T p.Q134L Missense 7/9 -
7-144288604-G-C TPK1 c.413C>G p.S138C Missense 7/9 -
7-144245652-C-A TPK1 c.545G>T p.W182L Missense 8/9 -
7-144150717-G-A TPK1 c.653C>T p.S218F Missense 9/9 -
7-144320315-C-T TPK1 c.298G>A p.D100N Missense 6/9 -
7-65705779-C-T TPST1 c.367C>T p.R123C Missense 2/6 -
7-65705780-G-A TPST1 c.368G>A p.R123H Missense 2/6 -
7-65751506-G-C TPST1 c.854G>C p.R285T Missense 3/6 -
7-65705773-A-G TPST1 c.361A>G p.K121E Missense 2/6 -
8-72942164-T-A TRPA1 c.2909A>T p.H970L Missense 24/27 -
8-72942163-A-T TRPA1 c.2910T>A p.H970Q Missense 24/27 -
8-72942163-A-C TRPA1 c.2910T>G p.H970Q Missense 24/27 -
8-72942159-A-T TRPA1 c.2914T>A p.S972T Missense 24/27 -
8-72942140-A-G TRPA1 c.2933T>C p.M978T Missense 24/27 -
2-122520583-G-A TSN c.376G>A p.E126K Missense 5/6 -
2-122520583-G-C TSN c.376G>C p.E126Q Missense 5/6 -
2-122520584-A-T TSN c.377A>T p.E126V Missense 5/6 -
2-122520589-G-A TSN c.382G>A p.D128N Missense 5/6 -
14-91196419-C-A TTC7B c.698G>T p.G233V Missense 5/20 -
14-91196420-C-A TTC7B c.697G>T p.G233W Missense 5/20 -
14-91161916-C-A TTC7B c.705G>T p.L235F Missense 6/20 -
14-91161916-C-G TTC7B c.705G>C p.L235F Missense 6/20 -
14-91161915-T-C TTC7B c.706A>G p.T236A Missense 6/20 -
14-91161911-C-T TTC7B c.710G>A p.R237K Missense 6/20 -
14-91161903-C-T TTC7B c.718G>A p.G240R Missense 6/20 -
14-91161903-C-G TTC7B c.718G>C p.G240R Missense 6/20 -
14-91161893-C-G TTC7B c.728G>C p.R243T Missense 6/20 -
18-29172888-G-C TTR c.99G>C p.M33I Missense 2/4 -
18-29172888-G-A TTR c.99G>A p.M33I Missense 2/4 -
18-29172888-G-T TTR c.99G>T p.M33I Missense 2/4 -
1-165875191-G-T UCK2 c.631G>T p.G211C Missense 6/7 -
1-165875192-G-A UCK2 c.632G>A p.G211D Missense 6/7 -
1-165875191-G-A UCK2 c.631G>A p.G211S Missense 6/7 -
1-165865540-C-T UCK2 c.470C>T p.T157I Missense 4/7 -
1-165859448-T-C UCK2 c.107T>C p.V36A Missense 2/7 -
1-165875180-T-A UCK2 c.620T>A p.I207N Missense 6/7 -
12-109540673-C-T UNG c.563C>T p.T188I Missense 5/7 -
12-109539760-C-A UNG c.489C>A p.H163Q Missense 4/7 -
12-109539760-C-G UNG c.489C>G p.H163Q Missense 4/7 -
12-109539758-C-T UNG c.487C>T p.H163Y Missense 4/7 -
12-109540669-T-C UNG c.559T>C p.S187P Missense 5/7 -
12-109539761-G-A UNG c.490G>A p.G164R Missense 4/7 -
12-109539761-G-C UNG c.490G>C p.G164R Missense 4/7 -
3-39136217-C-T WDR48 c.2017C>T p.R673C Missense 19/19 -
3-39136218-G-A WDR48 c.2018G>A p.R673H Missense 19/19 -
3-39136217-C-A WDR48 c.2017C>A p.R673S Missense 19/19 -
7-141419010-C-A WEE2 c.724C>A p.R242S Missense 4/12 -
7-141419011-G-T WEE2 c.725G>T p.R242L Missense 4/12 -
7-141418926-G-A WEE2 c.640G>A p.E214K Missense 4/12 -
7-141418927-A-T WEE2 c.641A>T p.E214V Missense 4/12 -
7-141419018-G-C WEE2 c.732G>C p.M244I Missense 4/12 -
7-141419018-G-A WEE2 c.732G>A p.M244I Missense 4/12 -
7-141419018-G-T WEE2 c.732G>T p.M244I Missense 4/12 -
7-141420826-C-T WEE2 c.850C>T p.H284Y Missense 5/12 -
12-65460514-G-T WIF1 c.637C>A p.L213I Missense 6/10 -
12-65460513-A-G WIF1 c.638T>C p.L213P Missense 6/10 -
12-65460504-G-A WIF1 c.647C>T p.P216L Missense 6/10 -
12-65460509-A-C WIF1 c.642T>G p.C214W Missense 6/10 -
12-65461496-G-T WIF1 c.613C>A p.H205N Missense 5/10 -
12-65460471-G-A WIF1 c.680C>T p.P227L Missense 6/10 -
2-61721114-G-C XPO1 c.1160C>G p.S387C Missense 12/25 -
2-61719862-T-C XPO1 c.1406A>G p.Y469C Missense 14/25 -
X-119389023-C-G ZBTB33 c.1753C>G p.R585G Missense 3/3 -
X-119389023-C-T ZBTB33 c.1753C>T p.R585C Missense 3/3 -
X-119388943-C-T ZBTB33 c.1673C>T p.S558F Missense 3/3 -
11-58384258-G-T ZFP91 c.1172G>T p.R391L Missense 10/11 -
11-58384258-G-A ZFP91 c.1172G>A p.R391Q Missense 10/11 -
11-58384270-C-A ZFP91 c.1184C>A p.T395N Missense 10/11 -
11-58384275-G-A ZFP91 c.1189G>A p.E397K Missense 10/11 -
1-40723960-C-T ZMPSTE24 c.17C>T p.S6L Missense 1/10 -
1-40723960-C-G ZMPSTE24 c.17C>G p.S6W Missense 1/10 -
1-40723965-G-A ZMPSTE24 c.22G>A p.D8N Missense 1/10 -
3-164783068-CG-AT SI c.787_788delCGinsAT p.R263I Missense 7/48 -
6-152332804-G-T ESR1 c.1110G>T p.L370F Missense 5/8 -
6-152332804-G-C ESR1 c.1110G>C p.L370F Missense 5/8 -
6-152332851-T-A ESR1 c.1157T>A p.I386N Missense 5/8 -
6-152332850-A-G ESR1 c.1156A>G p.I386V Missense 5/8 -
6-152163791-A-T ESR1 c.512A>T p.K171M Missense 2/8 -
6-152163775-G-T ESR1 c.496G>T p.A166S Missense 2/8 -
6-152419935-T-A ESR1 c.1622T>A p.L541Q Missense 8/8 -
2-216249612-C-T FN1 c.4700G>A p.R1567K Missense 29/46 -
6-152332811-C-A ESR1 c.1117C>A p.H373N Missense 5/8 -
2-216248799-G-T FN1 c.4838C>A p.T1613N Missense 30/46 -
3-10188264-T-A VHL c.407T>A p.F136Y Missense 2/3 -
3-10183869-G-A VHL c.338G>A p.R113Q Missense 1/3 -
3-10191575-G-T VHL c.568G>T p.D190Y Missense 3/3 -
3-10191501-T-A VHL c.494T>A p.V165D Missense 3/3 -
7-65548157-G-A ASL c.442G>A p.E148K Missense 6/17 -
7-65548157-G-C ASL c.442G>C p.E148Q Missense 6/17 -
7-65557847-T-A ASL c.1343T>A p.V448D Missense 17/17 -
7-65557846-G-A ASL c.1342G>A p.V448I Missense 17/17 -
7-65557837-C-T ASL c.1333C>T p.R445C Missense 17/17 -
8-62475356-C-T ASPH c.1384G>A p.V462M Missense 18/25 -
8-62475342-C-A ASPH c.1398G>T p.L466F Missense 18/25 -
8-62475342-C-G ASPH c.1398G>C p.L466F Missense 18/25 -
8-62475310-T-A ASPH c.1430A>T p.Y477F Missense 18/25 -
9-133333925-A-C ASS1 c.312A>C p.E104D Missense 4/15 -
9-133333925-A-T ASS1 c.312A>T p.E104D Missense 4/15 -
9-133333923-G-A ASS1 c.310G>A p.E104K Missense 4/15 -
9-133333917-C-G ASS1 c.304C>G p.Q102E Missense 4/15 -
11-108170450-G-C ATM c.5015G>C p.G1672A Missense 34/63 -
11-108170454-C-G ATM c.5019C>G p.S1673R Missense 34/63 -
11-108170454-C-A ATM c.5019C>A p.S1673R Missense 34/63 -
11-108170452-A-C ATM c.5017A>C p.S1673R Missense 34/63 -
11-108170460-G-T ATM c.5025G>T p.L1675F Missense 34/63 -
11-108170460-G-C ATM c.5025G>C p.L1675F Missense 34/63 -
11-108170468-T-G ATM c.5033T>G p.V1678G Missense 34/63 -
11-108192066-A-G ATM c.6491A>G p.E2164G Missense 45/63 -
11-27114840-G-A BBOX1 c.460G>A p.G154R Missense 5/9 -
11-27114841-G-A BBOX1 c.461G>A p.G154E Missense 5/9 -
11-27114851-C-G BBOX1 c.471C>G p.D157E Missense 5/9 -
11-27114851-C-A BBOX1 c.471C>A p.D157E Missense 5/9 -
11-27114762-G-A BBOX1 c.382G>A p.E128K Missense 5/9 -
11-27114843-G-A BBOX1 c.463G>A p.A155T Missense 5/9 -
11-27114756-G-A BBOX1 c.376G>A p.D126N Missense 5/9 -
1-85736385-G-C BCL10 c.262C>G p.R88G Missense 2/3 -
1-85736391-T-G BCL10 c.256A>C p.I86L Missense 2/3 -
1-85736391-T-C BCL10 c.256A>G p.I86V Missense 2/3 -
17-7579325-G-T TP53 c.362C>A p.S121Y Missense 4/11 -
17-7577593-T-G TP53 c.688A>C p.T230P Missense 7/11 -
17-7578449-C-G TP53 c.481G>C p.A161P Missense 5/11 -
5-39308392-T-A C9 c.1180A>T p.I394F Missense 8/11 -
7-140449176-A-T BRAF c.1903T>A p.F635I Missense 16/18 -
7-140481423-C-G BRAF c.1385G>C p.R462T Missense 11/18 -
15-66779609-G-T MAP2K1 c.939G>T p.L313F Missense 8/11 -
15-66779609-G-C MAP2K1 c.939G>C p.L313F Missense 8/11 -
15-66774216-C-T MAP2K1 c.692C>T p.S231L Missense 6/11 -
15-66777338-T-A MAP2K1 c.704T>A p.L235H Missense 7/11 -
15-66774204-G-A MAP2K1 c.680G>A p.R227K Missense 6/11 -
7-140449091-T-G BRAF c.1988A>C p.D663A Missense 16/18 -
15-66782079-G-A MAP2K1 c.1046G>A p.R349K Missense 10/11 -
X-65253415-T-C VSIG4 c.313A>G p.M105V Missense 2/8 -
X-153581814-T-A FLNA c.5872A>T p.M1958L Missense 37/48 -
9-139840445-C-T C8G c.340C>T p.L114F Missense 3/7 -
1-57378088-C-T C8A c.1393C>T p.H465Y Missense 10/11 -
1-57351757-G-A C8A c.1013G>A p.G338D Missense 7/11 -
1-57349275-G-C C8A c.776G>C p.S259T Missense 6/11 -
1-57378134-G-T C8A c.1439G>T p.R480L Missense 10/11 -
1-57378148-C-A C8A c.1453C>A p.R485S Missense 10/11 -
1-57415368-G-A C8B c.724C>T p.R242C Missense 6/12 -
1-57415368-G-C C8B c.724C>G p.R242G Missense 6/12 -
1-57415354-C-G C8B c.738G>C p.E246D Missense 6/12 -
1-57415354-C-A C8B c.738G>T p.E246D Missense 6/12 -
5-39316014-G-T C9 c.733C>A p.P245T Missense 6/11 -
5-39308390-G-C C9 c.1182C>G p.I394M Missense 8/11 -
8-86250502-C-T CA1 c.214G>A p.E72K Missense 3/8 -
8-86249260-T-C CA1 c.268A>G p.R90G Missense 4/8 -
8-86250486-C-A CA1 c.230G>T p.R77L Missense 3/8 -
8-86250493-C-T CA1 c.223G>A p.D75N Missense 3/8 -
8-86250539-T-G CA1 c.177A>C p.E59D Missense 3/8 -
8-86250539-T-A CA1 c.177A>T p.E59D Missense 3/8 -
8-86250555-G-T CA1 c.161C>A p.P54Q Missense 3/8 -
8-86354352-C-T CA3 c.283C>T p.L95F Missense 3/7 -
8-86354383-C-G CA3 c.314C>G p.S105C Missense 3/7 -
8-86354416-C-T CA3 c.347C>T p.A116V Missense 3/7 -
8-86354361-G-T CA3 c.292G>T p.G98C Missense 3/7 -
8-86360276-G-T CA3 c.677G>T p.R226L Missense 7/7 -
12-53585397-A-C ITGB7 c.2340T>G p.S780R Missense 16/16 -
8-86360267-C-A CA3 c.668C>A p.A223D Missense 7/7 -
8-86358512-G-C CA3 c.649G>C p.V217L Missense 6/7 -
8-86358512-G-T CA3 c.649G>T p.V217L Missense 6/7 -
8-86356323-G-T CA3 c.412G>T p.D138Y Missense 4/7 -
8-86354322-C-T CA3 c.253C>T p.P85S Missense 3/7 -
8-86354332-A-T CA3 c.263A>T p.Y88F Missense 3/7 -
X-131188764-G-A STK26 c.148G>A p.V50I Missense 3/12 -
X-131188771-T-G STK26 c.155T>G p.I52S Missense 3/12 -
X-131197486-A-G STK26 c.299A>G p.E100G Missense 4/12 -
X-131197492-T-C STK26 c.305T>C p.L102P Missense 4/12 -
X-131188767-G-T STK26 c.151G>T p.A51S Missense 3/12 -
X-131188767-G-A STK26 c.151G>A p.A51T Missense 3/12 -
2-27465263-C-T CAD c.6190C>T p.R2064C Missense 40/44 -
2-27465275-G-A CAD c.6202G>A p.G2068R Missense 40/44 -
2-27465275-G-C CAD c.6202G>C p.G2068R Missense 40/44 -
6-27860917-C-A H2AC17 c.11G>T p.R4L Missense 1/1 -
3-41266124-A-G CTNNB1 c.121A>G p.T41A Missense 3/15 -
2-27465276-G-T CAD c.6203G>T p.G2068V Missense 40/44 -
7-44302628-G-A CAMK2B c.196C>T p.R66C Missense 3/24 -
7-44298523-G-A CAMK2B c.223C>T p.R75C Missense 4/24 -
7-44298522-C-T CAMK2B c.224G>A p.R75H Missense 4/24 -
7-44302625-G-A CAMK2B c.199C>T p.L67F Missense 3/24 -
7-44286744-A-T CAMK2B c.389T>A p.M130K Missense 6/24 -
7-44283039-G-T CAMK2B c.502C>A p.Q168K Missense 7/24 -
22-41368482-A-G RBX1 c.317A>G p.Y106C Missense 5/5 -
7-148495743-G-A CUL1 c.2110G>A p.E704K Missense 20/22 -
1-115256528-T-A NRAS c.183A>T p.Q61H Missense 3/7 -
11-534288-C-A HRAS c.35G>T p.G12V Missense 2/6 -
7-6426892-C-T RAC1 c.85C>T p.P29S Missense 2/6 -
3-49412898-T-C RHOA c.125A>G p.Y42C Missense 2/5 -
17-7578526-C-A TP53 c.404G>T p.C135F Missense 5/11 -
3-41266137-C-A CTNNB1 c.134C>A p.S45Y Missense 3/15 -
X-41204458-C-T DDX3X c.1051C>T p.R351W Missense 11/17 -
12-25398262-C-G KRAS c.57G>C p.L19F Missense 2/5 -
12-25398262-C-A KRAS c.57G>T p.L19F Missense 2/5 -
17-37881000-G-C ERBB2 c.2329G>C p.V777L Missense 20/27 -
17-37880220-T-C ERBB2 c.2264T>C p.L755S Missense 19/27 -
2-209113113-G-C IDH1 c.394C>G p.R132G Missense 4/10 -
10-96535210-G-A CYP2C19 c.395G>A p.R132Q Missense 3/9 -
17-7578457-C-G TP53 c.473G>C p.R158P Missense 5/11 -
2-209113113-G-T IDH1 c.394C>A p.R132S Missense 4/10 -
3-41266098-A-G CTNNB1 c.95A>G p.D32G Missense 3/15 -
2-209113112-C-A IDH1 c.395G>T p.R132L Missense 4/10 -
15-90631838-C-A IDH2 c.515G>T p.R172M Missense 4/11 -
15-90631837-C-A IDH2 c.516G>T p.R172S Missense 4/11 -
15-90631839-T-C IDH2 c.514A>G p.R172G Missense 4/11 -
3-41266098-A-T CTNNB1 c.95A>T p.D32V Missense 3/15 -
3-41266104-G-T CTNNB1 c.101G>T p.G34V Missense 3/15 -
3-41266104-G-A CTNNB1 c.101G>A p.G34E Missense 3/15 -
3-41266103-G-A CTNNB1 c.100G>A p.G34R Missense 3/15 -
3-41266103-G-C CTNNB1 c.100G>C p.G34R Missense 3/15 -
3-41266100-T-C CTNNB1 c.97T>C p.S33P Missense 3/15 -
3-41266101-C-A CTNNB1 c.98C>A p.S33Y Missense 3/15 -
3-41266101-C-T CTNNB1 c.98C>T p.S33F Missense 3/15 -
3-41266101-C-G CTNNB1 c.98C>G p.S33C Missense 3/15 -
3-178921553-T-A PIK3CA c.1035T>A p.N345K Missense 5/21 -
3-178952090-G-C PIK3CA c.3145G>C p.G1049R Missense 21/21 -
3-178928079-G-A PIK3CA c.1357G>A p.E453K Missense 8/21 -
3-41266097-G-T CTNNB1 c.94G>T p.D32Y Missense 3/15 -
3-41266125-C-T CTNNB1 c.122C>T p.T41I Missense 3/15 -
7-140453146-G-C BRAF c.1789C>G p.L597V Missense 15/18 -
11-534289-C-T HRAS c.34G>A p.G12S Missense 2/6 -
17-7578280-G-A TP53 c.569C>T p.P190L Missense 6/11 -
4-55593661-T-C KIT c.1727T>C p.L576P Missense 11/21 -
14-23900998-C-T MYH7 c.611G>A p.R204H Missense 7/40 -
13-28592640-A-C FLT3 c.2505T>G p.D835E Missense 20/24 -
13-28592640-A-T FLT3 c.2505T>A p.D835E Missense 20/24 -
17-7579313-G-A TP53 c.374C>T p.T125M Missense 4/11 -
4-55593667-A-G KIT c.1733A>G p.Y578C Missense 11/21 -
19-10602581-C-A KEAP1 c.997G>T p.G333C Missense 3/6 -
17-7578413-C-T TP53 c.517G>A p.V173M Missense 5/11 -
7-55241722-G-A EGFR c.2170G>A p.G724S Missense 18/28 -
12-25398255-G-T KRAS c.64C>A p.Q22K Missense 2/5 -
7-140453136-A-C BRAF c.1799T>G p.V600G Missense 15/18 -
3-178916944-A-G PIK3CA c.331A>G p.K111E Missense 2/21 -
3-178952074-G-A PIK3CA c.3129G>A p.M1043I Missense 21/21 -
3-178952074-G-T PIK3CA c.3129G>T p.M1043I Missense 21/21 -
7-151188091-G-A RHEB c.62C>T p.S21L Missense 2/8 -
17-7577099-C-G TP53 c.839G>C p.R280T Missense 8/11 -
17-7577532-G-A TP53 c.749C>T p.P250L Missense 7/11 -
3-178916854-G-A PIK3CA c.241G>A p.E81K Missense 2/21 -
17-7577114-C-A TP53 c.824G>T p.C275F Missense 8/11 -
17-7578508-C-T TP53 c.422G>A p.C141Y Missense 5/11 -
17-7577559-G-T TP53 c.722C>A p.S241Y Missense 7/11 -
17-7577566-T-C TP53 c.715A>G p.N239D Missense 7/11 -
3-178921552-A-C PIK3CA c.1034A>C p.N345T Missense 5/21 -
17-7578461-C-A TP53 c.469G>T p.V157F Missense 5/11 -
17-7578536-T-C TP53 c.394A>G p.K132E Missense 5/11 -
17-7577547-C-T TP53 c.734G>A p.G245D Missense 7/11 -
18-48591901-A-T SMAD4 c.1064A>T p.D355V Missense 9/12 -
17-7578463-C-G TP53 c.467G>C p.R156P Missense 5/11 -
17-7577559-G-C TP53 c.722C>G p.S241C Missense 7/11 -
18-48591918-C-T SMAD4 c.1081C>T p.R361C Missense 9/12 -
17-7577559-G-A TP53 c.722C>T p.S241F Missense 7/11 -
18-48591919-G-A SMAD4 c.1082G>A p.R361H Missense 9/12 -
17-7577127-C-T TP53 c.811G>A p.E271K Missense 8/11 -
18-48593406-G-T SMAD4 c.1157G>T p.G386V Missense 10/12 -
17-7578532-A-T TP53 c.398T>A p.M133K Missense 5/11 -
3-41266136-T-C CTNNB1 c.133T>C p.S45P Missense 3/15 -
17-7577547-C-A TP53 c.734G>T p.G245V Missense 7/11 -
17-7577141-C-T TP53 c.797G>A p.G266E Missense 8/11 -
17-7577557-A-G TP53 c.724T>C p.C242R Missense 7/11 -
17-7578416-C-A TP53 c.514G>T p.V172F Missense 5/11 -
17-7577586-A-G TP53 c.695T>C p.I232T Missense 7/11 -
17-7578394-T-A TP53 c.536A>T p.H179L Missense 5/11 -
17-7578202-A-C TP53 c.647T>G p.V216G Missense 6/11 -
17-7577557-A-T TP53 c.724T>A p.C242S Missense 7/11 -
17-7577581-A-T TP53 c.700T>A p.Y234N Missense 7/11 -
17-7577117-A-T TP53 c.821T>A p.V274D Missense 8/11 -
17-7577093-C-T TP53 c.845G>A p.R282Q Missense 8/11 -
17-7578507-G-C TP53 c.423C>G p.C141W Missense 5/11 -
4-55599340-T-G KIT c.2466T>G p.N822K Missense 17/21 -
12-25380277-G-T KRAS c.181C>A p.Q61K Missense 3/5 -
17-7574017-C-T TP53 c.1010G>A p.R337H Missense 10/11 -
6-152419922-T-A ESR1 c.1609T>A p.Y537N Missense 8/8 -
12-25378561-G-A KRAS c.437C>T p.A146V Missense 4/5 -
3-178922324-G-A PIK3CA c.1093G>A p.E365K Missense 6/21 -
17-7577085-C-T TP53 c.853G>A p.E285K Missense 8/11 -
7-140453137-C-T BRAF c.1798G>A p.V600M Missense 15/18 -
17-7577568-C-T TP53 c.713G>A p.C238Y Missense 7/11 -
1-236906323-C-T ACTN2 c.1235C>T p.T412M Missense 11/21 -
17-7578427-T-C TP53 c.503A>G p.H168R Missense 5/11 -
17-7577120-C-A TP53 c.818G>T p.R273L Missense 8/11 -
17-7577108-C-A TP53 c.830G>T p.C277F Missense 8/11 -
17-7578464-G-A TP53 c.466C>T p.R156C Missense 5/11 -
1-11190804-C-T MTOR c.5395G>A p.E1799K Missense 39/58 -
17-7578266-T-A TP53 c.583A>T p.I195F Missense 6/11 -
17-7577570-C-A TP53 c.711G>T p.M237I Missense 7/11 -
17-7577570-C-G TP53 c.711G>C p.M237I Missense 7/11 -
17-7577570-C-T TP53 c.711G>A p.M237I Missense 7/11 -
17-7578393-A-C TP53 c.537T>G p.H179Q Missense 5/11 -
12-25398279-C-T KRAS c.40G>A p.V14I Missense 2/5 -
11-534286-C-A HRAS c.37G>T p.G13C Missense 2/6 -
11-534288-C-G HRAS c.35G>C p.G12A Missense 2/6 -
17-7577509-C-T TP53 c.772G>A p.E258K Missense 7/11 -
17-7577548-C-A TP53 c.733G>T p.G245C Missense 7/11 -
17-7577118-C-G TP53 c.820G>C p.V274L Missense 8/11 -
17-7578208-T-C TP53 c.641A>G p.H214R Missense 6/11 -
17-7578389-G-A TP53 c.541C>T p.R181C Missense 5/11 -
17-7578464-G-C TP53 c.466C>G p.R156G Missense 5/11 -
4-55594221-A-G KIT c.1924A>G p.K642E Missense 13/21 -
17-7577106-G-T TP53 c.832C>A p.P278T Missense 8/11 -
7-140481411-C-A BRAF c.1397G>T p.G466V Missense 11/18 -
7-140481402-C-A BRAF c.1406G>T p.G469V Missense 11/18 -
17-7578479-G-A TP53 c.451C>T p.P151S Missense 5/11 -
17-7578403-C-A TP53 c.527G>T p.C176F Missense 5/11 -
17-7577114-C-T TP53 c.824G>A p.C275Y Missense 8/11 -
17-7577105-G-C TP53 c.833C>G p.P278R Missense 8/11 -
17-7578268-A-C TP53 c.581T>G p.L194R Missense 6/11 -
4-55599320-G-C KIT c.2446G>C p.D816H Missense 17/21 -
17-7574018-G-A TP53 c.1009C>T p.R337C Missense 10/11 -
17-7578395-G-A TP53 c.535C>T p.H179Y Missense 5/11 -
4-55599320-G-T KIT c.2446G>T p.D816Y Missense 17/21 -
12-25398211-T-C KRAS c.108A>G p.I36M Missense 2/5 -
17-7578535-T-C TP53 c.395A>G p.K132R Missense 5/11 -
17-7577142-C-T TP53 c.796G>A p.G266R Missense 8/11 -
17-7577581-A-G TP53 c.700T>C p.Y234H Missense 7/11 -
17-7578191-A-G TP53 c.658T>C p.Y220H Missense 6/11 -
17-7578502-A-G TP53 c.428T>C p.V143A Missense 5/11 -
17-7577538-C-A TP53 c.743G>T p.R248L Missense 7/11 -
17-7578478-G-T TP53 c.452C>A p.P151H Missense 5/11 -
17-7578413-C-G TP53 c.517G>C p.V173L Missense 5/11 -
17-7578413-C-A TP53 c.517G>T p.V173L Missense 5/11 -
17-7577568-C-A TP53 c.713G>T p.C238F Missense 7/11 -
11-533875-G-T HRAS c.181C>A p.Q61K Missense 3/6 -
17-7577124-C-T TP53 c.814G>A p.V272M Missense 8/11 -
22-22127164-C-T MAPK1 c.964G>A p.E322K Missense 7/9 -
1-115258744-C-T NRAS c.38G>A p.G13D Missense 2/7 -
4-119626803-G-C METTL14 c.893G>C p.R298P Missense 10/11 -
7-140453154-T-C BRAF c.1781A>G p.D594G Missense 15/18 -
7-140481411-C-T BRAF c.1397G>A p.G466E Missense 11/18 -
17-7578388-C-G TP53 c.542G>C p.R181P Missense 5/11 -
17-7578388-C-T TP53 c.542G>A p.R181H Missense 5/11 -
15-90631839-T-A IDH2 c.514A>T p.R172W Missense 4/11 -
17-7578235-T-C TP53 c.614A>G p.Y205C Missense 6/11 -
22-41565529-G-T EP300 c.4195G>T p.D1399Y Missense 26/31 -
3-178916933-A-G PIK3CA c.320A>G p.N107S Missense 2/21 -
12-25380283-C-T KRAS c.175G>A p.A59T Missense 3/5 -
17-7578466-G-A TP53 c.464C>T p.T155I Missense 5/11 -
17-7578271-T-C TP53 c.578A>G p.H193R Missense 6/11 -
3-178952072-A-C PIK3CA c.3127A>C p.M1043L Missense 21/21 -
3-178952072-A-T PIK3CA c.3127A>T p.M1043L Missense 21/21 -
17-7578395-G-C TP53 c.535C>G p.H179D Missense 5/11 -
17-7578395-G-T TP53 c.535C>A p.H179N Missense 5/11 -
17-7577098-T-G TP53 c.840A>C p.R280S Missense 8/11 -
17-7577098-T-A TP53 c.840A>T p.R280S Missense 8/11 -
17-7577120-C-G TP53 c.818G>C p.R273P Missense 8/11 -
13-28592642-C-G FLT3 c.2503G>C p.D835H Missense 20/24 -
1-115258747-C-G NRAS c.35G>C p.G12A Missense 2/7 -
1-115258748-C-A NRAS c.34G>T p.G12C Missense 2/7 -
1-115258747-C-A NRAS c.35G>T p.G12V Missense 2/7 -
1-115258748-C-T NRAS c.34G>A p.G12S Missense 2/7 -
17-7578191-A-C TP53 c.658T>G p.Y220D Missense 6/11 -
17-7578190-T-G TP53 c.659A>C p.Y220S Missense 6/11 -
17-7574026-C-A TP53 c.1001G>T p.G334V Missense 10/11 -
17-7577517-A-T TP53 c.764T>A p.I255N Missense 7/11 -
13-28592642-C-T FLT3 c.2503G>A p.D835N Missense 20/24 -
1-115258745-C-G NRAS c.37G>C p.G13R Missense 2/7 -
17-7577094-G-C TP53 c.844C>G p.R282G Missense 8/11 -
11-534288-C-T HRAS c.35G>A p.G12D Missense 2/6 -
11-533874-T-C HRAS c.182A>G p.Q61R Missense 3/6 -
7-140453155-C-T BRAF c.1780G>A p.D594N Missense 15/18 -
17-7577084-T-A TP53 c.854A>T p.E285V Missense 8/11 -
4-55602664-G-C KIT c.2485G>C p.A829P Missense 18/21 -
17-7577544-A-C TP53 c.737T>G p.M246R Missense 7/11 -
17-7577574-T-C TP53 c.707A>G p.Y236C Missense 7/11 -
3-178921566-G-A PIK3CA c.1048G>A p.D350N Missense 5/21 -
3-178928079-G-C PIK3CA c.1357G>C p.E453Q Missense 8/21 -
11-533874-T-A HRAS c.182A>T p.Q61L Missense 3/6 -
17-7577105-G-A TP53 c.833C>T p.P278L Missense 8/11 -
17-7577105-G-T TP53 c.833C>A p.P278H Missense 8/11 -
17-7577557-A-C TP53 c.724T>G p.C242G Missense 7/11 -
7-55221822-C-A EGFR c.866C>A p.A289D Missense 7/28 -
7-55221822-C-T EGFR c.866C>T p.A289V Missense 7/28 -
1-156849818-C-T NTRK1 c.2074C>T p.R692C Missense 16/17 -
17-7578407-G-A TP53 c.523C>T p.R175C Missense 5/11 -
3-10191506-C-T VHL c.499C>T p.R167W Missense 3/3 -
7-140481417-C-T BRAF c.1391G>A p.G464E Missense 11/18 -
7-140481411-C-G BRAF c.1397G>C p.G466A Missense 11/18 -
17-37880257-C-G ERBB2 c.2301C>G p.I767M Missense 19/27 -
17-7578525-G-C TP53 c.405C>G p.C135W Missense 5/11 -
17-7578550-G-A TP53 c.380C>T p.S127F Missense 5/11 -
17-7577547-C-G TP53 c.734G>C p.G245A Missense 7/11 -
17-7579355-A-G TP53 c.332T>C p.L111P Missense 4/11 -
17-7579355-A-T TP53 c.332T>A p.L111Q Missense 4/11 -
22-22162014-C-T MAPK1 c.241G>A p.E81K Missense 2/9 -
17-7577567-A-C TP53 c.714T>G p.C238W Missense 7/11 -
3-178916924-C-T PIK3CA c.311C>T p.P104L Missense 2/21 -
3-178921567-A-G PIK3CA c.1049A>G p.D350G Missense 5/21 -
3-178921549-T-G PIK3CA c.1031T>G p.V344G Missense 5/21 -
4-55573425-C-T KIT c.1087C>T p.P363S Missense 6/21 -
17-7578475-G-T TP53 c.455C>A p.P152Q Missense 5/11 -
17-7578527-A-G TP53 c.403T>C p.C135R Missense 5/11 -
17-7577144-A-G TP53 c.794T>C p.L265P Missense 8/11 -
17-7578542-G-C TP53 c.388C>G p.L130V Missense 5/11 -
10-96535209-C-T CYP2C19 c.394C>T p.R132W Missense 3/9 -
10-96535224-G-C CYP2C19 c.409G>C p.G137R Missense 3/9 -
10-96535204-C-T CYP2C19 c.389C>T p.T130M Missense 3/9 -
17-7578272-G-A TP53 c.577C>T p.H193Y Missense 6/11 -
17-37676268-G-A CDK12 c.3023G>A p.R1008Q Missense 11/14 -
7-140481417-C-A BRAF c.1391G>T p.G464V Missense 11/18 -
3-178927974-G-A PIK3CA c.1252G>A p.E418K Missense 8/21 -
3-178916930-G-T PIK3CA c.317G>T p.G106V Missense 2/21 -
11-534286-C-G HRAS c.37G>C p.G13R Missense 2/6 -
17-7578508-C-A TP53 c.422G>T p.C141F Missense 5/11 -
17-7579355-A-C TP53 c.332T>G p.L111R Missense 4/11 -
17-7579358-C-A TP53 c.329G>T p.R110L Missense 4/11 -
17-7578206-T-C TP53 c.643A>G p.S215G Missense 6/11 -
17-7578454-G-A TP53 c.476C>T p.A159V Missense 5/11 -
6-49419405-C-T MMUT c.1106G>A p.R369H Missense 6/13 -
17-7578401-G-A TP53 c.529C>T p.P177S Missense 5/11 -
4-55599338-A-T KIT c.2464A>T p.N822Y Missense 17/21 -
17-7577580-T-C TP53 c.701A>G p.Y234C Missense 7/11 -
3-178952084-C-T PIK3CA c.3139C>T p.H1047Y Missense 21/21 -
17-7578528-A-C TP53 c.402T>G p.F134L Missense 5/11 -
17-7577130-A-T TP53 c.808T>A p.F270I Missense 8/11 -
17-7577535-C-A TP53 c.746G>T p.R249M Missense 7/11 -
17-7578526-C-T TP53 c.404G>A p.C135Y Missense 5/11 -
17-7578469-C-A TP53 c.461G>T p.G154V Missense 5/11 -
17-7578536-T-G TP53 c.394A>C p.K132Q Missense 5/11 -
1-115258748-C-G NRAS c.34G>C p.G12R Missense 2/7 -
12-25378646-A-T KRAS c.352T>A p.C118S Missense 4/5 -
12-25378645-C-G KRAS c.353G>C p.C118S Missense 4/5 -
3-178952077-T-A PIK3CA c.3132T>A p.N1044K Missense 21/21 -
7-55249007-G-C EGFR c.2305G>C p.V769L Missense 20/28 -
7-55249007-G-T EGFR c.2305G>T p.V769L Missense 20/28 -
7-55249022-G-A EGFR c.2320G>A p.V774M Missense 20/28 -
3-178952073-T-C PIK3CA c.3128T>C p.M1043T Missense 21/21 -
3-178952072-A-G PIK3CA c.3127A>G p.M1043V Missense 21/21 -
3-41266137-C-T CTNNB1 c.134C>T p.S45F Missense 3/15 -
12-52310003-G-A ACVRL1 c.1232G>A p.R411Q Missense 8/10 -
17-37879658-G-A ERBB2 c.2033G>A p.R678Q Missense 17/27 -
7-55241708-G-A EGFR c.2156G>A p.G719D Missense 18/28 -
12-25398281-C-A KRAS c.38G>T p.G13V Missense 2/5 -
12-25378562-C-G KRAS c.436G>C p.A146P Missense 4/5 -
12-25378647-T-A KRAS c.351A>T p.K117N Missense 4/5 -
7-6431629-A-G RAC1 c.182A>G p.Q61R Missense 3/6 -
17-7578449-C-T TP53 c.481G>A p.A161T Missense 5/11 -
7-55211080-G-A EGFR c.323G>A p.R108K Missense 3/28 -
17-7578202-A-T TP53 c.647T>A p.V216E Missense 6/11 -
17-7578457-C-T TP53 c.473G>A p.R158H Missense 5/11 -
22-22127167-C-T MAPK1 c.961G>A p.D321N Missense 7/9 -
17-7578554-A-C TP53 c.376T>G p.Y126D Missense 5/11 -
17-7578271-T-G TP53 c.578A>C p.H193P Missense 6/11 -
17-7577529-A-C TP53 c.752T>G p.I251S Missense 7/11 -
17-7578450-C-T TP53 c.480G>A p.M160I Missense 5/11 -
17-7578450-C-A TP53 c.480G>T p.M160I Missense 5/11 -
17-7578400-G-C TP53 c.530C>G p.P177R Missense 5/11 -
17-7578532-A-C TP53 c.398T>G p.M133R Missense 5/11 -
17-7578400-G-A TP53 c.530C>T p.P177L Missense 5/11 -
17-7578542-G-A TP53 c.388C>T p.L130F Missense 5/11 -
17-7578460-A-C TP53 c.470T>G p.V157G Missense 5/11 -
11-108192065-G-A ATM c.6490G>A p.E2164K Missense 45/63 -
3-10183797-T-A VHL c.266T>A p.L89H Missense 1/3 -
17-7577518-T-A TP53 c.763A>T p.I255F Missense 7/11 -
17-7578450-C-G TP53 c.480G>C p.M160I Missense 5/11 -
3-178916936-G-A PIK3CA c.323G>A p.R108H Missense 2/21 -
17-7577520-A-C TP53 c.761T>G p.I254S Missense 7/11 -
17-7578403-C-T TP53 c.527G>A p.C176Y Missense 5/11 -
17-7578475-G-A TP53 c.455C>T p.P152L Missense 5/11 -
11-65426222-C-T RELA c.631G>A p.E211K Missense 7/11 -
17-7577556-C-A TP53 c.725G>T p.C242F Missense 7/11 -
18-48591889-A-G SMAD4 c.1052A>G p.D351G Missense 9/12 -
17-7578455-C-G TP53 c.475G>C p.A159P Missense 5/11 -
7-140453145-A-T BRAF c.1790T>A p.L597Q Missense 15/18 -
17-7577121-G-C TP53 c.817C>G p.R273G Missense 8/11 -
17-7577096-T-A TP53 c.842A>T p.D281V Missense 8/11 -
17-7577096-T-G TP53 c.842A>C p.D281A Missense 8/11 -
17-7577097-C-G TP53 c.841G>C p.D281H Missense 8/11 -
17-7577097-C-T TP53 c.841G>A p.D281N Missense 8/11 -
17-7577095-G-C TP53 c.843C>G p.D281E Missense 8/11 -
17-7577095-G-T TP53 c.843C>A p.D281E Missense 8/11 -
11-534286-C-T HRAS c.37G>A p.G13S Missense 2/6 -
17-7578478-G-C TP53 c.452C>G p.P151R Missense 5/11 -
17-7578479-G-C TP53 c.451C>G p.P151A Missense 5/11 -
17-7578479-G-T TP53 c.451C>A p.P151T Missense 5/11 -
12-25380282-G-T KRAS c.176C>A p.A59E Missense 3/5 -
17-7578265-A-G TP53 c.584T>C p.I195T Missense 6/11 -
17-7578268-A-G TP53 c.581T>C p.L194P Missense 6/11 -
17-7578265-A-T TP53 c.584T>A p.I195N Missense 6/11 -
17-7577548-C-G TP53 c.733G>C p.G245R Missense 7/11 -
17-7578458-G-T TP53 c.472C>A p.R158S Missense 5/11 -
17-7578406-C-A TP53 c.524G>T p.R175L Missense 5/11 -
21-33039573-A-G SOD1 c.242A>G p.H81R Missense 4/5 -
17-79478568-C-T ACTG1 c.448G>A p.G150S Missense 4/6 -
17-79478295-C-T ACTG1 c.721G>A p.E241K Missense 4/6 -
17-7578203-C-T TP53 c.646G>A p.V216M Missense 6/11 -
17-7578271-T-A TP53 c.578A>T p.H193L Missense 6/11 -
3-49412973-C-G RHOA c.50G>C p.G17A Missense 2/5 -
17-7577097-C-A TP53 c.841G>T p.D281Y Missense 8/11 -
17-7578553-T-C TP53 c.377A>G p.Y126C Missense 5/11 -
17-7577550-C-T TP53 c.731G>A p.G244D Missense 7/11 -
17-7578499-T-G TP53 c.431A>C p.Q144P Missense 5/11 -
17-7577539-G-C TP53 c.742C>G p.R248G Missense 7/11 -
17-7578253-C-A TP53 c.596G>T p.G199V Missense 6/11 -
17-7577106-G-C TP53 c.832C>G p.P278A Missense 8/11 -
17-7578448-G-T TP53 c.482C>A p.A161D Missense 5/11 -
17-7577506-C-A TP53 c.775G>T p.D259Y Missense 7/11 -
17-7577507-T-G TP53 c.774A>C p.E258D Missense 7/11 -
3-178916946-G-C PIK3CA c.333G>C p.K111N Missense 2/21 -
3-178916946-G-T PIK3CA c.333G>T p.K111N Missense 2/21 -
3-49412973-C-T RHOA c.50G>A p.G17E Missense 2/5 -
17-7577124-C-G TP53 c.814G>C p.V272L Missense 8/11 -
17-7577124-C-A TP53 c.814G>T p.V272L Missense 8/11 -
12-25380271-C-T KRAS c.187G>A p.E63K Missense 3/5 -
7-140453124-C-A BRAF c.1811G>T p.W604L Missense 15/18 -
17-7578235-T-A TP53 c.614A>T p.Y205F Missense 6/11 -
17-7577130-A-G TP53 c.808T>C p.F270L Missense 8/11 -
17-7577128-A-T TP53 c.810T>A p.F270L Missense 8/11 -
17-7577128-A-C TP53 c.810T>G p.F270L Missense 8/11 -
17-7577565-T-C TP53 c.716A>G p.N239S Missense 7/11 -
17-7578509-A-G TP53 c.421T>C p.C141R Missense 5/11 -
12-25380276-T-G KRAS c.182A>C p.Q61P Missense 3/5 -
3-41266100-T-G CTNNB1 c.97T>G p.S33A Missense 3/15 -
17-7578272-G-C TP53 c.577C>G p.H193D Missense 6/11 -
17-7578496-A-C TP53 c.434T>G p.L145R Missense 5/11 -
17-37883158-G-C ERBB2 c.3061G>C p.E1021Q Missense 25/27 -
7-55259449-G-A EGFR c.2507G>A p.R836H Missense 21/28 -
7-140481408-G-A BRAF c.1400C>T p.S467L Missense 11/18 -
18-48593406-G-A SMAD4 c.1157G>A p.G386D Missense 10/12 -
3-189586386-G-A TP63 c.1010G>A p.R337Q Missense 8/14 -
17-7577507-T-A TP53 c.774A>T p.E258D Missense 7/11 -
17-7578534-C-G TP53 c.396G>C p.K132N Missense 5/11 -
11-534285-C-T HRAS c.38G>A p.G13D Missense 2/6 -
17-7578448-G-A TP53 c.482C>T p.A161V Missense 5/11 -
7-55221821-G-A EGFR c.865G>A p.A289T Missense 7/28 -
5-67591097-A-G PIK3R1 c.1690A>G p.N564D Missense 13/16 -
7-55221743-A-C EGFR c.787A>C p.T263P Missense 7/28 -
5-67591099-C-G PIK3R1 c.1692C>G p.N564K Missense 13/16 -
5-67591099-C-A PIK3R1 c.1692C>A p.N564K Missense 13/16 -
5-67591128-G-C PIK3R1 c.1721G>C p.R574T Missense 13/16 -
5-67591085-G-T PIK3R1 c.1678G>T p.D560Y Missense 13/16 -
5-67591085-G-C PIK3R1 c.1678G>C p.D560H Missense 13/16 -
17-7577536-T-A TP53 c.745A>T p.R249W Missense 7/11 -
17-7578457-C-A TP53 c.473G>T p.R158L Missense 5/11 -
17-7578505-G-A TP53 c.425C>T p.P142L Missense 5/11 -
5-67591106-A-G PIK3R1 c.1699A>G p.K567E Missense 13/16 -
4-55599340-T-A KIT c.2466T>A p.N822K Missense 17/21 -
3-10191480-T-A VHL c.473T>A p.L158Q Missense 3/3 -
17-7577506-C-T TP53 c.775G>A p.D259N Missense 7/11 -
17-11998899-G-A MAP2K4 c.401G>A p.R134Q Missense 4/11 -
2-209110144-CT-TG IDH1 c.418_419delAGinsCA p.R140Q Missense 5/10 -
17-37881000-G-T ERBB2 c.2329G>T p.V777L Missense 20/27 -
17-7578476-G-A TP53 c.454C>T p.P152S Missense 5/11 -
17-7577077-C-G TP53 c.861G>C p.E287D Missense 8/11 -
17-7577077-C-A TP53 c.861G>T p.E287D Missense 8/11 -
17-7577115-A-C TP53 c.823T>G p.C275G Missense 8/11 -
17-7577100-T-C TP53 c.838A>G p.R280G Missense 8/11 -
17-7577556-C-T TP53 c.725G>A p.C242Y Missense 7/11 -
17-7578466-G-T TP53 c.464C>A p.T155N Missense 5/11 -
15-90631837-C-G IDH2 c.516G>C p.R172S Missense 4/11 -
17-7577099-C-A TP53 c.839G>T p.R280I Missense 8/11 -
17-7577121-G-T TP53 c.817C>A p.R273S Missense 8/11 -
17-7578467-T-G TP53 c.463A>C p.T155P Missense 5/11 -
17-7578440-T-C TP53 c.490A>G p.K164E Missense 5/11 -
17-7578204-A-T TP53 c.645T>A p.S215R Missense 6/11 -
17-7578206-T-G TP53 c.643A>C p.S215R Missense 6/11 -
17-79478454-A-G ACTG1 c.562T>C p.Y188H Missense 4/6 -
7-55220295-A-T EGFR c.685A>T p.S229C Missense 6/28 -
17-7579349-A-C TP53 c.338T>G p.F113C Missense 4/11 -
17-7578550-G-T TP53 c.380C>A p.S127Y Missense 5/11 -
3-178951955-A-G PIK3CA c.3010A>G p.M1004V Missense 21/21 -
17-7577153-C-A TP53 c.785G>T p.G262V Missense 8/11 -
17-7578402-G-C TP53 c.528C>G p.C176W Missense 5/11 -
17-7578407-G-C TP53 c.523C>G p.R175G Missense 5/11 -
3-178928226-C-T PIK3CA c.1412C>T p.P471L Missense 9/21 -
17-7577509-C-G TP53 c.772G>C p.E258Q Missense 7/11 -
7-55259557-A-G EGFR c.2615A>G p.E872G Missense 21/28 -
17-7578412-A-C TP53 c.518T>G p.V173G Missense 5/11 -
17-7577129-A-C TP53 c.809T>G p.F270C Missense 8/11 -
17-7577129-A-G TP53 c.809T>C p.F270S Missense 8/11 -
17-7577551-C-A TP53 c.730G>T p.G244C Missense 7/11 -
17-7577551-C-G TP53 c.730G>C p.G244R Missense 7/11 -
17-7577551-C-T TP53 c.730G>A p.G244S Missense 7/11 -
17-7578538-T-A TP53 c.392A>T p.N131I Missense 5/11 -
17-7577550-C-A TP53 c.731G>T p.G244V Missense 7/11 -
17-7578503-C-T TP53 c.427G>A p.V143M Missense 5/11 -
3-178952088-A-G PIK3CA c.3143A>G p.H1048R Missense 21/21 -
5-67589607-A-C PIK3R1 c.1370A>C p.Q457P Missense 11/16 -
17-7577090-C-G TP53 c.848G>C p.R283P Missense 8/11 -
3-41268766-A-C CTNNB1 c.1004A>C p.K335T Missense 7/15 -
17-7578217-G-A TP53 c.632C>T p.T211I Missense 6/11 -
17-7577112-C-G TP53 c.826G>C p.A276P Missense 8/11 -
17-7577569-A-T TP53 c.712T>A p.C238S Missense 7/11 -
17-7577568-C-G TP53 c.713G>C p.C238S Missense 7/11 -
17-7574017-C-A TP53 c.1010G>T p.R337L Missense 10/11 -
17-7578204-A-C TP53 c.645T>G p.S215R Missense 6/11 -
17-7577569-A-G TP53 c.712T>C p.C238R Missense 7/11 -
17-7578445-A-T TP53 c.485T>A p.I162N Missense 5/11 -
17-7578205-C-A TP53 c.644G>T p.S215I Missense 6/11 -
17-7578269-G-A TP53 c.580C>T p.L194F Missense 6/11 -
3-178952086-T-A PIK3CA c.3141T>A p.H1047Q Missense 21/21 -
3-41266097-G-A CTNNB1 c.94G>A p.D32N Missense 3/15 -
9-35061056-C-A VCP c.1315G>T p.A439S Missense 11/17 -
7-55221716-T-A EGFR c.760T>A p.F254I Missense 7/28 -
22-41565529-G-A EP300 c.4195G>A p.D1399N Missense 26/31 -
17-7578412-A-G TP53 c.518T>C p.V173A Missense 5/11 -
17-7578412-A-T TP53 c.518T>A p.V173E Missense 5/11 -
3-178921548-G-A PIK3CA c.1030G>A p.V344M Missense 5/21 -
17-7577569-A-C TP53 c.712T>G p.C238G Missense 7/11 -
17-7578541-A-G TP53 c.389T>C p.L130P Missense 5/11 -
17-7579358-C-G TP53 c.329G>C p.R110P Missense 4/11 -
2-178098799-T-G NFE2L2 c.246A>C p.E82D Missense 2/5 -
2-178098799-T-A NFE2L2 c.246A>T p.E82D Missense 2/5 -
18-48591891-G-A SMAD4 c.1054G>A p.G352R Missense 9/12 -
18-48591891-G-C SMAD4 c.1054G>C p.G352R Missense 9/12 -
18-48591888-G-T SMAD4 c.1051G>T p.D351Y Missense 9/12 -
17-7577545-T-C TP53 c.736A>G p.M246V Missense 7/11 -
17-7577118-C-A TP53 c.820G>T p.V274F Missense 8/11 -
17-7577144-A-C TP53 c.794T>G p.L265R Missense 8/11 -
17-7577560-A-G TP53 c.721T>C p.S241P Missense 7/11 -
17-7577106-G-A TP53 c.832C>T p.P278S Missense 8/11 -
17-7577081-T-C TP53 c.857A>G p.E286G Missense 8/11 -
17-7578530-A-G TP53 c.400T>C p.F134L Missense 5/11 -
17-7578236-A-G TP53 c.613T>C p.Y205H Missense 6/11 -
17-7577535-C-G TP53 c.746G>C p.R249T Missense 7/11 -
18-29175121-C-T TTR c.239C>T p.T80I Missense 3/4 -
11-533881-C-T HRAS c.175G>A p.A59T Missense 3/6 -
3-178922364-G-A PIK3CA c.1133G>A p.C378Y Missense 6/21 -
17-7577082-C-T TP53 c.856G>A p.E286K Missense 8/11 -
18-48591852-T-C SMAD4 c.1015T>C p.F339L Missense 9/12 -
17-7577108-C-T TP53 c.830G>A p.C277Y Missense 8/11 -
17-7579362-A-C TP53 c.325T>G p.F109V Missense 4/11 -
2-178098810-C-T NFE2L2 c.235G>A p.E79K Missense 2/5 -
3-41268766-A-T CTNNB1 c.1004A>T p.K335I Missense 7/15 -
11-534285-C-A HRAS c.38G>T p.G13V Missense 2/6 -
2-178098810-C-G NFE2L2 c.235G>C p.E79Q Missense 2/5 -
19-1220699-G-T STK11 c.717G>T p.W239C Missense 5/10 -
19-1220699-G-C STK11 c.717G>C p.W239C Missense 5/10 -
17-7578509-A-C TP53 c.421T>G p.C141G Missense 5/11 -
3-41266110-A-C CTNNB1 c.107A>C p.H36P Missense 3/15 -
17-7577572-T-C TP53 c.709A>G p.M237V Missense 7/11 -
2-178098815-T-C NFE2L2 c.230A>G p.D77G Missense 2/5 -
7-140453155-C-A BRAF c.1780G>T p.D594Y Missense 15/18 -
17-37880998-G-T ERBB2 c.2327G>T p.G776V Missense 20/27 -
3-178951957-G-C PIK3CA c.3012G>C p.M1004I Missense 21/21 -
12-25380282-G-C KRAS c.176C>G p.A59G Missense 3/5 -
3-10183766-C-G VHL c.235C>G p.R79G Missense 1/3 -
3-10191489-G-A VHL c.482G>A p.R161Q Missense 3/3 -
17-7577111-G-T TP53 c.827C>A p.A276D Missense 8/11 -
3-178951957-G-T PIK3CA c.3012G>T p.M1004I Missense 21/21 -
3-178951957-G-A PIK3CA c.3012G>A p.M1004I Missense 21/21 -
1-115256527-C-T NRAS c.184G>A p.E62K Missense 3/7 -
22-29091699-A-G CHEK2 c.1258T>C p.C420R Missense 11/15 -
15-88423622-G-T NTRK3 c.2213C>A p.P738H Missense 19/20 -
17-7577139-G-A TP53 c.799C>T p.R267W Missense 8/11 -
17-7577141-C-A TP53 c.797G>T p.G266V Missense 8/11 -
17-7578524-G-C TP53 c.406C>G p.Q136E Missense 5/11 -
17-7577113-A-C TP53 c.825T>G p.C275W Missense 8/11 -
17-7577575-A-G TP53 c.706T>C p.Y236H Missense 7/11 -
17-7577517-A-G TP53 c.764T>C p.I255T Missense 7/11 -
3-41266097-G-C CTNNB1 c.94G>C p.D32H Missense 3/15 -
3-41266137-C-G CTNNB1 c.134C>G p.S45C Missense 3/15 -
17-11998898-C-T MAP2K4 c.400C>T p.R134W Missense 4/11 -
17-7578478-G-A TP53 c.452C>T p.P151L Missense 5/11 -
5-67591125-T-C PIK3R1 c.1718T>C p.L573P Missense 13/16 -
3-178921552-A-T PIK3CA c.1034A>T p.N345I Missense 5/21 -
19-18278070-A-G PIK3R2 c.1690A>G p.K564E Missense 13/16 -
4-55594211-G-C KIT c.1914G>C p.M638I Missense 13/21 -
11-533877-C-A HRAS c.179G>T p.G60V Missense 3/6 -
X-41205842-C-T DDX3X c.1582C>T p.R528C Missense 14/17 -
X-41205855-C-T DDX3X c.1595C>T p.T532M Missense 14/17 -
16-67654615-C-T CTCF c.1102C>T p.R368C Missense 6/12 -
16-67654646-C-T CTCF c.1133C>T p.P378L Missense 6/12 -
16-67654616-G-A CTCF c.1103G>A p.R368H Missense 6/12 -
19-18278049-G-C PIK3R2 c.1669G>C p.D557H Missense 13/16 -
7-6426860-G-A RAC1 c.53G>A p.C18Y Missense 2/6 -
10-43617398-G-A RET c.2735G>A p.R912Q Missense 16/20 -
4-55599309-G-T KIT c.2435G>T p.G812V Missense 17/21 -
13-28592630-C-G FLT3 c.2515G>C p.D839H Missense 20/24 -
3-178952054-G-A PIK3CA c.3109G>A p.E1037K Missense 21/21 -
2-209113181-C-T IDH1 c.326G>A p.R109K Missense 4/10 -
3-178916924-C-G PIK3CA c.311C>G p.P104R Missense 2/21 -
17-37879903-C-T ERBB2 c.2198C>T p.T733I Missense 18/27 -
10-43619124-C-T RET c.2807C>T p.S936F Missense 17/20 -
3-178922325-A-T PIK3CA c.1094A>T p.E365V Missense 6/21 -
3-178928074-G-T PIK3CA c.1352G>T p.G451V Missense 8/21 -
13-28608116-C-T FLT3 c.1850G>A p.G617E Missense 15/24 -
7-140481403-C-T BRAF c.1405G>A p.G469R Missense 11/18 -
3-178951964-G-C PIK3CA c.3019G>C p.G1007R Missense 21/21 -
3-178916929-G-C PIK3CA c.316G>C p.G106R Missense 2/21 -
3-178916936-G-T PIK3CA c.323G>T p.R108L Missense 2/21 -
7-140453148-C-T BRAF c.1787G>A p.G596D Missense 15/18 -
3-178951958-A-G PIK3CA c.3013A>G p.M1005V Missense 21/21 -
3-178916945-A-G PIK3CA c.332A>G p.K111R Missense 2/21 -
3-178937422-T-C PIK3CA c.1810T>C p.C604R Missense 12/21 -
3-178928073-G-A PIK3CA c.1351G>A p.G451R Missense 8/21 -
12-25398260-G-C KRAS c.59C>G p.T20R Missense 2/5 -
7-55221765-A-G EGFR c.809A>G p.Y270C Missense 7/28 -
11-108192065-G-C ATM c.6490G>C p.E2164Q Missense 45/63 -
12-25380274-C-T KRAS c.184G>A p.E62K Missense 3/5 -
3-178922319-G-C PIK3CA c.1088G>C p.G363A Missense 6/21 -
7-140453155-C-G BRAF c.1780G>C p.D594H Missense 15/18 -
11-534226-C-T HRAS c.97G>A p.D33N Missense 2/6 -
7-55221722-G-T EGFR c.766G>T p.D256Y Missense 7/28 -
7-55211097-G-A EGFR c.340G>A p.E114K Missense 3/28 -
7-55211008-A-T EGFR c.251A>T p.E84V Missense 3/28 -
7-55241711-C-G EGFR c.2159C>G p.S720C Missense 18/28 -
12-25378594-C-G KRAS c.404G>C p.R135T Missense 4/5 -
17-7578236-A-T TP53 c.613T>A p.Y205N Missense 6/11 -
18-48591888-G-C SMAD4 c.1051G>C p.D351H Missense 9/12 -
17-7578236-A-C TP53 c.613T>G p.Y205D Missense 6/11 -
17-7578260-C-T TP53 c.589G>A p.V197M Missense 6/11 -
7-77240143-C-G PTPN12 c.824C>G p.S275C Missense 10/18 -
17-30771560-G-C PSMD11 c.19G>C p.V7L Missense 1/14 -
17-7578535-T-A TP53 c.395A>T p.K132M Missense 5/11 -
17-7577561-A-T TP53 c.720T>A p.S240R Missense 7/11 -
17-7578534-C-A TP53 c.396G>T p.K132N Missense 5/11 -
17-7578496-A-G TP53 c.434T>C p.L145P Missense 5/11 -
17-7577561-A-C TP53 c.720T>G p.S240R Missense 7/11 -
17-7577505-T-A TP53 c.776A>T p.D259V Missense 7/11 -
7-6426892-C-A RAC1 c.85C>A p.P29T Missense 2/6 -
17-7578551-A-G TP53 c.379T>C p.S127P Missense 5/11 -
2-178098803-C-T NFE2L2 c.242G>A p.G81D Missense 2/5 -
17-7578404-A-G TP53 c.526T>C p.C176R Missense 5/11 -
17-7578513-C-A TP53 c.417G>T p.K139N Missense 5/11 -
17-7579329-T-C TP53 c.358A>G p.K120E Missense 4/11 -
3-49412905-C-G RHOA c.118G>C p.E40Q Missense 2/5 -
17-7578458-G-C TP53 c.472C>G p.R158G Missense 5/11 -
18-48593466-C-T SMAD4 c.1217C>T p.A406V Missense 10/12 -
17-7578264-G-C TP53 c.585C>G p.I195M Missense 6/11 -
17-7577115-A-G TP53 c.823T>C p.C275R Missense 8/11 -
17-7577536-T-C TP53 c.745A>G p.R249G Missense 7/11 -
17-7579374-C-G TP53 c.313G>C p.G105R Missense 4/11 -
17-7578449-C-A TP53 c.481G>T p.A161S Missense 5/11 -
12-25398218-G-A KRAS c.101C>T p.P34L Missense 2/5 -
17-7577082-C-G TP53 c.856G>C p.E286Q Missense 8/11 -
17-7578528-A-T TP53 c.402T>A p.F134L Missense 5/11 -
17-7578196-A-T TP53 c.653T>A p.V218E Missense 6/11 -
3-189582118-G-A TP63 c.677G>A p.R226H Missense 5/14 -
17-7578554-A-T TP53 c.376T>A p.Y126N Missense 5/11 -
17-7578177-C-A TP53 c.672G>T p.E224D Missense 6/11 -
17-7577517-A-C TP53 c.764T>G p.I255S Missense 7/11 -
17-7577530-T-A TP53 c.751A>T p.I251F Missense 7/11 -
17-7579374-C-A TP53 c.313G>T p.G105C Missense 4/11 -
17-7577563-T-G TP53 c.718A>C p.S240R Missense 7/11 -
7-151181836-T-A RHEB c.179A>T p.D60V Missense 3/8 -
2-178098800-T-G NFE2L2 c.245A>C p.E82A Missense 2/5 -
17-7577081-T-A TP53 c.857A>T p.E286V Missense 8/11 -
16-23695342-C-T PLK1 c.968C>T p.P323L Missense 5/10 -
17-37881021-C-T ERBB2 c.2350C>T p.R784C Missense 20/27 -
17-7578488-C-T TP53 c.442G>A p.D148N Missense 5/11 -
17-7578410-T-A TP53 c.520A>T p.R174W Missense 5/11 -
3-178916861-T-C PIK3CA c.248T>C p.F83S Missense 2/21 -
17-7577560-A-C TP53 c.721T>G p.S241A Missense 7/11 -
4-120243201-C-G FABP2 c.57G>C p.M19I Missense 1/4 -
18-48591901-A-G SMAD4 c.1064A>G p.D355G Missense 9/12 -
2-178098808-C-A NFE2L2 c.237G>T p.E79D Missense 2/5 -
4-120243201-C-A FABP2 c.57G>T p.M19I Missense 1/4 -
4-120243201-C-T FABP2 c.57G>A p.M19I Missense 1/4 -
8-54141901-G-A OPRK1 c.1099C>T p.P367S Missense 4/4 -
11-534289-C-G HRAS c.34G>C p.G12R Missense 2/6 -
17-7578396-G-C TP53 c.534C>G p.H178Q Missense 5/11 -
19-14208443-C-A PRKACA c.590G>T p.W197L Missense 7/10 -
7-55211104-C-T EGFR c.347C>T p.S116F Missense 3/28 -
7-55210075-T-G EGFR c.185T>G p.L62R Missense 2/28 -
2-178098807-T-C NFE2L2 c.238A>G p.T80A Missense 2/5 -
17-7577514-G-A TP53 c.767C>T p.T256I Missense 7/11 -
17-7578427-T-A TP53 c.503A>T p.H168L Missense 5/11 -
18-48591895-A-G SMAD4 c.1058A>G p.Y353C Missense 9/12 -
17-7577538-C-G TP53 c.743G>C p.R248P Missense 7/11 -
1-226252155-G-A H3-3A c.103G>A p.G35R Missense 2/4 -
17-7577543-C-T TP53 c.738G>A p.M246I Missense 7/11 -
17-7574017-C-G TP53 c.1010G>C p.R337P Missense 10/11 -
17-7578498-C-A TP53 c.432G>T p.Q144H Missense 5/11 -
3-49412905-C-T RHOA c.118G>A p.E40K Missense