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