Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
14-81659174-G-A | GTF2A1 | c.622C>T | p.Pro208Ser | Missense | 7/9 | - |
3-121377132-C-G | HCLS1 | c.63G>C | p.Trp21Cys | Missense | 2/14 | - |
9-139814833-G-C | TRAF2 | c.826G>C | p.Glu276Gln | Missense | 8/11 | - |
X-9000463-C-T | FAM9B | c.68G>A | p.Arg23His | Missense | 3/9 | - |
6-139564150-G-A | TXLNB | c.1568C>T | p.Thr523Ile | Missense | 10/10 | - |
6-139564150-G-T | TXLNB | c.1568C>A | p.Thr523Asn | Missense | 10/10 | - |
2-106497930-G-T | NCK2 | c.373G>T | p.Glu125* | Nonsense | 4/5 | - |
2-106497930-G-C | NCK2 | c.373G>C | p.Glu125Gln | Missense | 4/5 | - |
2-106497930-G-A | NCK2 | c.373G>A | p.Glu125Lys | Missense | 4/5 | - |
17-48503677-G-T | ACSF2 | c.55G>T | p.Gly19Trp | Missense | 1/16 | - |
12-88380137-A-G | C12orf50 | c.874T>C | p.Trp292Arg | Missense | 10/13 | - |
11-6631758-G-A | ILK | c.1275G>A | p.Met425Ile | Missense | 13/13 | - |
3-37067240-T-A | MLH1 | c.1151T>A | p.Val384Asp | Missense | 12/19 | - |
1-24123419-C-T | GALE | c.656G>A | p.Arg219Gln | Missense | 8/12 | - |
6-33380081-C-T | PHF1 | c.41C>T | p.Ser14Leu | Missense | 2/14 | - |
19-46417913-G-C | NANOS2 | c.39C>G | p.Phe13Leu | Missense | 1/1 | - |
17-46257518-T-C | SKAP1 | c.724A>G | p.Ser242Gly | Missense | 9/13 | - |
12-6436628-C-T | PLEKHG6 | c.1879C>T | p.Arg627Trp | Missense | 15/16 | - |
3-37089131-A-T | MLH1 | c.1853A>T | p.Lys618Met | Missense | 16/19 | - |
3-37089131-A-G | MLH1 | c.1853A>G | p.Lys618Arg | Missense | 16/19 | - |
3-37089131-A-C | MLH1 | c.1853A>C | p.Lys618Thr | Missense | 16/19 | - |
19-373509-G-C | THEG | c.526C>G | p.Arg176Gly | Missense | 4/8 | - |
16-71603791-C-T | TAT | c.1091G>A | p.Arg364Gln | Missense | 10/12 | - |
17-39525806-C-T | KRT33B | c.197G>A | p.Arg66His | Missense | 1/7 | - |
1-115601595-C-A | TSPAN2 | c.353G>T | p.Arg118Leu | Missense | 5/8 | - |
1-115601595-C-T | TSPAN2 | c.353G>A | p.Arg118Gln | Missense | 5/8 | - |
4-145041720-A-G | GYPA | c.59T>C | p.Leu20Ser | Missense | 2/7 | - |
4-104016424-T-G | BDH2 | c.87A>C | p.Glu29Asp | Missense | 3/10 | - |
X-49114787-G-C | FOXP3 | c.176C>G | p.Ser59Cys | Missense | 2/12 | - |
3-48965078-A-C | ARIH2 | c.87A>C | p.Glu29Asp | Missense | 3/16 | - |
9-135702319-C-T | AK8 | c.679G>A | p.Val227Ile | Missense | 8/13 | - |
19-19674370-C-T | PBX4 | c.980G>A | p.Arg327Gln | Missense | 7/8 | - |
1-154918654-C-T | PBXIP1 | c.1496G>A | p.Arg499Gln | Missense | 10/11 | - |
11-111941959-G-A | PIH1D2 | c.350C>T | p.Ala117Val | Missense | 4/6 | - |
11-65715204-G-A | TSGA10IP | c.908G>A | p.Arg303Gln | Missense | 3/8 | - |
18-47908556-G-A | SKA1 | c.271G>A | p.Val91Ile | Missense | 4/7 | - |
6-97058547-A-T | FHL5 | c.604A>T | p.Met202Leu | Missense | 6/7 | - |
10-21139389-T-C | NEBL | c.1051A>G | p.Met351Val | Missense | 11/28 | - |
11-46329489-G-A | CREB3L1 | c.454G>A | p.Ala152Thr | Missense | 3/12 | - |
19-48785674-A-G | ZNF114 | c.56A>G | p.Glu19Gly | Missense | 5/6 | - |
19-49339590-G-A | HSD17B14 | c.79C>T | p.Arg27Cys | Missense | 1/9 | - |
6-159407446-C-T | RSPH3 | c.638G>A | p.Arg213Gln | Missense | 3/8 | - |
16-67694302-C-T | ACD | c.80G>A | p.Gly27Glu | Missense | 1/12 | - |
1-15820448-G-T | CASP9 | c.848C>A | p.Thr283Asn | Missense | 8/9 | - |
16-11362729-G-A | TNP2 | c.391C>T | p.Arg131Trp | Missense | 1/2 | - |
19-46417735-G-A | NANOS2 | c.217C>T | p.Arg73Cys | Missense | 1/1 | - |
2-74076511-G-A | STAMBP | c.764G>A | p.Arg255His | Missense | 7/11 | - |
12-110341933-A-C | TCHP | c.380A>C | p.Lys127Thr | Missense | 3/13 | - |
22-43280401-T-A | PACSIN2 | c.776A>T | p.Asn259Ile | Missense | 6/11 | - |
20-31434428-A-G | MAPRE1 | c.602A>G | p.Asn201Ser | Missense | 6/7 | - |
11-70052416-A-T | FADD | c.464A>T | p.Asn155Ile | Missense | 2/2 | - |
3-33893987-A-G | PDCD6IP | c.1664A>G | p.Asn555Ser | Missense | 13/18 | - |
16-4827944-G-A | SEPT12 | c.931C>T | p.Arg311Cys | Missense | 10/10 | - |
3-167413505-T-C | PDCD10 | c.274A>G | p.Met92Val | Missense | 6/9 | - |
3-183906916-C-T | ABCF3 | c.1018C>T | p.Arg340Trp | Missense | 10/21 | - |
10-106039185-A-T | GSTO2 | c.424A>T | p.Asn142Tyr | Missense | 5/7 | - |
9-97333824-C-T | FBP2 | c.487G>A | p.Ala163Thr | Missense | 4/7 | - |
19-16528799-G-C | EPS15L1 | c.1067C>G | p.Pro356Arg | Missense | 11/23 | - |
19-16528799-G-A | EPS15L1 | c.1067C>T | p.Pro356Leu | Missense | 11/23 | - |
22-38934606-T-C | DMC1 | c.598A>G | p.Met200Val | Missense | 10/14 | - |
9-97355870-A-C | FBP2 | c.139T>G | p.Ser47Ala | Missense | 1/7 | - |
7-100853838-G-A | PLOD3 | c.1475C>T | p.Ala492Val | Missense | 13/19 | - |
11-6629323-G-C | ILK | c.137G>C | p.Arg46Pro | Missense | 3/13 | - |
11-6629323-G-A | ILK | c.137G>A | p.Arg46His | Missense | 3/13 | - |
1-32647133-C-T | TXLNA | c.460C>T | p.Arg154* | Nonsense | 3/11 | - |
12-124111627-C-T | EIF2B1 | c.446G>A | p.Ser149Asn | Missense | 5/9 | - |
12-124111627-C-G | EIF2B1 | c.446G>C | p.Ser149Thr | Missense | 5/9 | - |
10-95259979-C-G | CEP55 | c.171C>G | p.His57Gln | Missense | 2/9 | - |
3-122146516-G-A | KPNA1 | c.1298C>T | p.Thr433Met | Missense | 13/14 | - |
1-169823718-T-G | SCYL3 | c.1862A>C | p.Gln621Pro | Missense | 13/14 | - |
2-28004542-C-G | RBKS | c.909G>C | p.Gln303His | Missense | 8/8 | - |
4-38879818-C-T | FAM114A1 | c.119C>T | p.Ser40Leu | Missense | 3/15 | - |
14-20779909-T-C | CCNB1IP1 | c.634A>G | p.Asn212Asp | Missense | 7/7 | - |
7-72745715-G-A | FKBP6 | c.524G>A | p.Arg175Gln | Missense | 5/9 | - |
X-48978819-C-T | GPKOW | c.385G>A | p.Ala129Thr | Missense | 3/11 | - |
X-48978819-C-A | GPKOW | c.385G>T | p.Ala129Ser | Missense | 3/11 | - |
19-41898802-C-T | EXOSC5 | c.232G>A | p.Val78Met | Missense | 2/6 | - |
5-79616059-G-A | SPZ1 | c.25G>A | p.Glu9Lys | Missense | 1/1 | - |
1-24124207-C-G | GALE | c.506G>C | p.Arg169Pro | Missense | 6/12 | - |
5-162909667-A-G | HMMR | c.1402A>G | p.Ser468Gly | Missense | 13/18 | - |
12-49399132-G-C | PRKAG1 | c.266C>G | p.Thr89Ser | Missense | 5/12 | - |
16-23400309-G-T | COG7 | c.2245C>A | p.Gln749Lys | Missense | 17/17 | - |
16-23400309-G-C | COG7 | c.2245C>G | p.Gln749Glu | Missense | 17/17 | - |
3-145938619-T-C | PLSCR4 | c.101A>G | p.Asn34Ser | Missense | 3/9 | - |
6-24785898-A-T | GMNN | c.501A>T | p.Glu167Asp | Missense | 7/7 | - |
6-31610686-A-G | BAG6 | c.1855T>C | p.Ser619Pro | Missense | 14/25 | - |
3-121351338-C-T | HCLS1 | c.1081G>A | p.Glu361Lys | Missense | 12/14 | - |
6-143825104-G-T | FUCA2 | c.698C>A | p.Ala233Glu | Missense | 3/7 | - |
8-6783453-C-A | DEFA6 | c.105G>T | p.Glu35Asp | Missense | 1/2 | - |
3-50614990-T-G | HEMK1 | c.600T>G | p.His200Gln | Missense | 6/11 | - |
3-50614990-T-C | HEMK1 | c.600T>C | p.His200His | Synonymous | 6/11 | - |
18-48591825-G-A | SMAD4 | c.988G>A | p.Glu330Lys | Missense | 9/12 | - |
6-42930068-G-A | GNMT | c.325G>A | p.Asp109Asn | Missense | 2/6 | - |
19-41898783-A-G | EXOSC5 | c.251T>C | p.Ile84Thr | Missense | 2/6 | - |
14-102815042-C-T | CINP | c.491G>A | p.Arg164His | Missense | 5/5 | - |
10-70045156-C-T | PBLD | c.703G>A | p.Ala235Thr | Missense | 9/10 | - |
1-1686081-G-A | NADK | c.745C>T | p.Arg249Trp | Missense | 8/12 | - |
17-40491371-C-T | STAT3 | c.429G>A | p.Met143Ile | Missense | 5/24 | - |
3-37038199-G-C | MLH1 | c.206G>C | p.Arg69Thr | Missense | 2/19 | - |
3-37038199-G-A | MLH1 | c.206G>A | p.Arg69Lys | Missense | 2/19 | - |
2-74074637-G-A | STAMBP | c.499G>A | p.Glu167Lys | Missense | 6/11 | - |
14-62207557-C-T | HIF1A | c.1744C>T | p.Pro582Ser | Missense | 12/15 | - |
18-44560875-C-A | ELOA2 | c.761G>T | p.Cys254Phe | Missense | 1/1 | - |
16-57474740-G-A | CIAPIN1 | c.101C>T | p.Ala34Val | Missense | 2/9 | - |
16-57474740-G-T | CIAPIN1 | c.101C>A | p.Ala34Glu | Missense | 2/9 | - |
10-48371220-T-C | ZNF488 | c.688T>C | p.Cys230Arg | Missense | 2/2 | - |
10-53822301-A-G | PRKG1 | c.800A>G | p.Asn267Ser | Missense | 7/18 | - |
1-51439833-G-A | CDKN2C | c.398G>A | p.Arg133Gln | Missense | 3/3 | - |
17-73126866-C-T | NT5C | c.337-134G>A | - | IntronicSNV | - | 3/3 |
X-40456851-C-T | ATP6AP2 | c.469C>T | p.Arg157Cys | Missense | 5/9 | - |
9-35663006-C-T | ARHGEF39 | c.610G>A | p.Asp204Asn | Missense | 6/9 | - |
19-9449242-T-A | ZNF559-ZNF177 | c.-407T>A | - | 5_prime_UTR_variant | 3/12 | - |
14-94511065-G-A | OTUB2 | c.437G>A | p.Arg146Gln | Missense | 5/6 | - |
14-94511065-G-C | OTUB2 | c.437G>C | p.Arg146Pro | Missense | 5/6 | - |
1-20931528-G-A | CDA | c.262G>A | p.Ala88Thr | Missense | 2/4 | - |
1-236902771-A-T | ACTN2 | c.1046A>T | p.Gln349Leu | Missense | 10/21 | - |
17-66042638-G-T | KPNA2 | c.1516G>T | p.Val506Phe | Missense | 11/11 | - |
17-66042638-G-A | KPNA2 | c.1516G>A | p.Val506Ile | Missense | 11/11 | - |
6-117900146-G-C | GOPC | c.367C>G | p.Leu123Val | Missense | 2/9 | - |
22-42998873-C-T | POLDIP3 | c.353G>A | p.Arg118Gln | Missense | 2/9 | - |
2-25523096-T-G | DNMT3A | c.89A>C | p.Glu30Ala | Missense | 3/23 | - |
2-25523096-T-C | DNMT3A | c.89A>G | p.Glu30Gly | Missense | 3/23 | - |
2-28055626-G-A | RBKS | c.533C>T | p.Pro178Leu | Missense | 6/8 | - |
1-151339230-C-T | SELENBP1 | c.446G>A | p.Arg149Gln | Missense | 5/11 | - |
X-69255382-G-A | EDA | c.1099G>A | p.Ala367Thr | Missense | 8/8 | - |
1-91985753-A-C | CDC7 | c.1247A>C | p.Lys416Thr | Missense | 11/12 | - |
8-145649365-G-A | VPS28 | c.548+59C>T | - | IntronicSNV | - | 9/9 |
12-52885433-G-C | KRT6A | c.628C>G | p.Leu210Val | Missense | 2/9 | - |
12-52885433-G-T | KRT6A | c.628C>A | p.Leu210Met | Missense | 2/9 | - |
3-25611288-C-T | RARB | c.488C>T | p.Ser163Leu | Missense | 4/8 | - |
17-39134528-G-A | KRT40 | c.1217C>T | p.Ser406Leu | Missense | 9/9 | - |
17-43226622-C-T | HEXIM1 | c.65C>T | p.Ala22Val | Missense | 1/1 | - |
1-160252826-G-T | PEX19 | c.254C>A | p.Ala85Glu | Missense | 3/8 | - |
1-160252826-G-A | PEX19 | c.254C>T | p.Ala85Val | Missense | 3/8 | - |
3-137822552-G-A | DZIP1L | c.262C>T | p.Arg88Cys | Missense | 2/16 | - |
3-25611288-C-G | RARB | c.488C>G | p.Ser163Trp | Missense | 4/8 | - |
12-124115018-C-G | EIF2B1 | c.178G>C | p.Asp60His | Missense | 3/9 | - |
11-118849911-G-C | FOXR1 | c.381G>C | p.Trp127Cys | Missense | 3/6 | - |
1-46669276-A-C | LURAP1 | c.178A>C | p.Met60Leu | Missense | 1/2 | - |
1-46669276-A-G | LURAP1 | c.178A>G | p.Met60Val | Missense | 1/2 | - |
2-70096978-G-A | GMCL1 | c.1346G>A | p.Arg449Gln | Missense | 12/14 | - |
6-42930827-C-T | GNMT | c.469C>T | p.Arg157Trp | Missense | 4/6 | - |
19-12781559-G-C | WDR83 | c.430G>C | p.Glu144Gln | Missense | 5/9 | - |
1-93826178-A-T | DR1 | c.513A>T | p.Glu171Asp | Missense | 3/3 | - |
2-25469928-C-T | DNMT3A | c.1114G>A | p.Val372Ile | Missense | 9/23 | - |
9-35735184-A-G | CREB3 | c.514A>G | p.Lys172Glu | Missense | 5/9 | - |
14-24680652-C-T | CHMP4A | c.457G>A | p.Ala153Thr | Missense | 4/6 | - |
12-124109390-C-G | EIF2B1 | c.571G>C | p.Asp191His | Missense | 7/9 | - |
16-69959355-A-G | WWP2 | c.1202A>G | p.His401Arg | Missense | 12/25 | - |
10-91065949-A-T | IFIT2 | c.236A>T | p.Glu79Val | Missense | 2/2 | - |
17-42978446-A-G | CCDC103 | c.80A>G | p.Lys27Arg | Missense | 2/4 | - |
X-38163917-C-G | RPGR | c.905G>C | p.Cys302Ser | Missense | 8/19 | - |
3-184910078-G-A | EHHADH | c.1820C>T | p.Ser607Phe | Missense | 7/7 | - |
11-64807175-C-T | SNX15 | c.940C>T | p.Arg314Cys | Missense | 8/8 | - |
3-32578505-T-A | DYNC1LI1 | c.830A>T | p.Gln277Leu | Missense | 6/13 | - |
11-112104207-C-T | PTS | c.367C>T | p.Pro123Ser | Missense | 6/6 | - |
19-44611654-G-T | ZNF224 | c.1341G>T | p.Gln447His | Missense | 6/6 | - |
20-60882747-C-A | ADRM1 | c.602C>A | p.Thr201Asn | Missense | 6/9 | - |
20-60882747-C-G | ADRM1 | c.602C>G | p.Thr201Ser | Missense | 6/9 | - |
7-75190694-A-G | HIP1 | c.1130T>C | p.Ile377Thr | Missense | 13/31 | - |
12-123352068-C-T | VPS37B | c.453G>A | p.Met151Ile | Missense | 4/4 | - |
X-129059157-A-G | UTP14A | c.1735A>G | p.Thr579Ala | Missense | 12/15 | - |
6-31632088-G-C | GPANK1 | c.168C>G | p.Asp56Glu | Missense | 2/3 | - |
5-639231-C-A | CEP72 | c.1234C>A | p.Pro412Thr | Missense | 8/12 | - |
1-51735793-C-T | RNF11 | c.289C>T | p.Arg97Trp | Missense | 2/3 | - |
1-182356356-C-T | GLUL | c.238G>A | p.Val80Met | Missense | 4/8 | - |
15-45361162-C-T | SORD | c.698C>T | p.Ala233Val | Missense | 7/9 | - |
6-33423395-C-G | ZBTB9 | c.518C>G | p.Ser173Cys | Missense | 2/2 | - |
19-374004-G-A | THEG | c.439C>T | p.Arg147Cys | Missense | 3/8 | - |
10-135123419-G-A | ZNF511 | c.367G>A | p.Asp123Asn | Missense | 3/6 | - |
13-30829650-T-C | KATNAL1 | c.426A>G | p.Ile142Met | Missense | 4/11 | - |
4-110618790-T-C | CASP6 | c.218A>G | p.Asn73Ser | Missense | 3/7 | - |
16-4836054-T-G | SEPT12 | c.219A>C | p.Lys73Asn | Missense | 3/10 | - |
1-12082938-C-A | MIIP | c.511C>A | p.Arg171Ser | Missense | 4/10 | - |
16-4836054-T-C | SEPT12 | c.219A>G | p.Lys73Lys | Synonymous | 3/10 | - |
12-33021934-A-G | PKP2 | c.1097T>C | p.Leu366Pro | Missense | 4/14 | - |
6-28056829-A-T | ZNF165 | c.1039A>T | p.Asn347Tyr | Missense | 4/4 | - |
6-97058553-A-C | FHL5 | c.610A>C | p.Arg204Arg | Synonymous | 6/7 | - |
15-74927810-T-C | EDC3 | c.1132A>G | p.Ile378Val | Missense | 6/7 | - |
12-58144446-G-A | CDK4 | c.625C>T | p.Arg209Cys | Missense | 5/8 | - |
11-103908172-C-G | DDI1 | c.622C>G | p.Arg208Gly | Missense | 1/1 | - |
11-103908172-C-T | DDI1 | c.622C>T | p.Arg208Trp | Missense | 1/1 | - |
7-148950691-G-A | ZNF212 | c.673G>A | p.Glu225Lys | Missense | 5/5 | - |
3-10183725-C-T | VHL | c.194C>T | p.Ser65Leu | Missense | 1/3 | - |
3-10183725-C-G | VHL | c.194C>G | p.Ser65Trp | Missense | 1/3 | - |
3-10183725-C-A | VHL | c.194C>A | p.Ser65* | Nonsense | 1/3 | - |
11-103908172-C-A | DDI1 | c.622C>A | p.Arg208Arg | Synonymous | 1/1 | - |
1-25573396-G-A | RSRP1 | c.59C>T | p.Ser20Leu | Missense | 2/5 | - |
19-48537585-A-G | CABP5 | c.383T>C | p.Val128Ala | Missense | 5/6 | - |
4-110618790-T-G | CASP6 | c.218A>C | p.Asn73Thr | Missense | 3/7 | - |
12-124109390-C-T | EIF2B1 | c.571G>A | p.Asp191Asn | Missense | 7/9 | - |
16-67691668-A-G | ACD | c.1286T>C | - | missense_variant | 11/12 | - |
12-118463608-T-C | RFC5 | c.638T>C | p.Met213Thr | Missense | 7/11 | - |
17-42979917-A-C | CCDC103 | c.461A>C | p.His154Pro | Missense | 4/4 | - |
22-38917703-A-G | DMC1 | c.863T>C | p.Ile288Thr | Missense | 13/14 | - |
6-24781801-A-G | GMNN | c.226A>G | p.Lys76Glu | Missense | 4/7 | - |
22-38917703-A-C | DMC1 | c.863T>G | p.Ile288Ser | Missense | 13/14 | - |
16-85711861-G-A | GINS2 | c.515C>T | p.Thr172Met | Missense | 5/5 | - |
9-139814797-G-A | TRAF2 | c.790G>A | p.Ala264Thr | Missense | 8/11 | - |
16-85711861-G-T | GINS2 | c.515C>A | p.Thr172Lys | Missense | 5/5 | - |
21-37510224-C-T | CBR3 | c.391C>T | p.Pro131Ser | Missense | 2/3 | - |
16-53532453-C-T | AKTIP | c.98G>A | p.Arg33Gln | Missense | 3/10 | - |
6-159414899-T-C | RSPH3 | c.602A>G | p.Asn201Ser | Missense | 2/8 | - |
4-130032843-A-G | C4orf33 | c.497A>G | p.His166Arg | Missense | 6/6 | - |
17-34431350-T-C | CCL4 | c.52T>C | p.Cys18Arg | Missense | 1/3 | - |
3-121354620-G-A | HCLS1 | c.653C>T | p.Pro218Leu | Missense | 9/14 | - |
7-91622257-C-A | AKAP9 | c.464C>A | p.Thr155Asn | Missense | 5/50 | - |
1-909238-G-A | PLEKHN1 | c.1460G>A | p.Arg487His | Missense | 14/16 | - |
6-28053463-C-T | ZNF165 | c.205C>T | p.Arg69Cys | Missense | 2/4 | - |
X-44171953-T-C | EFHC2 | c.92A>G | p.Asn31Ser | Missense | 2/15 | - |
17-7577577-T-A | TP53 | c.704A>T | p.Asn235Ile | Missense | 7/11 | - |
17-7577577-T-C | TP53 | c.704A>G | p.Asn235Ser | Missense | 7/11 | - |
3-122170872-T-C | KPNA1 | c.604A>G | p.Met202Val | Missense | 7/14 | - |
2-219266388-C-G | CTDSP1 | c.169C>G | p.His57Asp | Missense | 2/7 | - |
2-105990062-G-T | FHL2 | c.285C>A | p.Asn95Lys | Missense | 4/7 | - |
1-153784559-G-A | GATAD2B | c.1469C>T | p.Ala490Val | Missense | 9/11 | - |
16-4833691-C-T | SEPT12 | c.589G>A | p.Asp197Asn | Missense | 6/10 | - |
11-77690119-C-T | INTS4 | c.394G>A | p.Asp132Asn | Missense | 4/23 | - |
5-148680759-G-A | AFAP1L1 | c.293G>A | p.Ser98Asn | Missense | 4/19 | - |
2-95537572-C-T | TEKT4 | c.248C>T | p.Thr83Met | Missense | 1/6 | - |
2-95537572-C-A | TEKT4 | c.248C>A | p.Thr83Lys | Missense | 1/6 | - |
13-52604955-G-A | ALG11 | c.*2229G>A | - | IntergenicSNV | 4/4 | - |
1-152785261-C-T | LCE1B | c.339C>T | p.His113His | Synonymous | 1/1 | - |
19-9958804-G-A | PIN1 | c.370G>A | p.Ala124Thr | Missense | 3/4 | - |
19-9958804-G-T | PIN1 | c.370G>T | p.Ala124Ser | Missense | 3/4 | - |
1-156255448-A-G | TMEM79 | c.431A>G | p.Asp144Gly | Missense | 2/4 | - |
6-30126303-T-C | TRIM10 | c.629A>G | p.Gln210Arg | Missense | 3/7 | - |
6-30126303-T-A | TRIM10 | c.629A>T | p.Gln210Leu | Missense | 3/7 | - |
14-65007751-A-G | HSPA2 | c.184A>G | p.Met62Val | Missense | 1/1 | - |
19-48537550-C-G | CABP5 | c.418G>C | p.Glu140Gln | Missense | 5/6 | - |
19-48537550-C-T | CABP5 | c.418G>A | p.Glu140Lys | Missense | 5/6 | - |
X-10535338-C-T | MID1 | c.250G>A | p.Asp84Asn | Missense | 2/10 | - |
18-48591891-G-A | SMAD4 | c.1054G>A | p.Gly352Arg | Missense | 9/12 | - |
17-28598293-T-G | BLMH | c.1142A>C | p.Glu381Ala | Missense | 10/12 | - |
17-49238549-C-T | NME1 | c.257C>T | p.Thr86Met | Missense | 4/5 | - |
3-145917761-T-A | PLSCR4 | c.463A>T | p.Ile155Phe | Missense | 6/9 | - |
7-73097611-G-T | DNAJC30 | c.143C>A | p.Thr48Lys | Missense | 1/1 | - |
7-56082840-G-A | PSPH | c.446C>T | p.Thr149Met | Missense | 7/8 | - |
6-36653548-C-A | CDKN1A | c.466C>A | p.Arg156Arg | Synonymous | 4/4 | - |
7-73097611-G-A | DNAJC30 | c.143C>T | p.Thr48Met | Missense | 1/1 | - |
9-104130469-C-G | BAAT | c.602G>C | p.Arg201Pro | Missense | 3/4 | - |
9-104130469-C-T | BAAT | c.602G>A | p.Arg201His | Missense | 3/4 | - |
4-120981323-T-C | MAD2L1 | c.568A>G | p.Ile190Val | Missense | 5/5 | - |
20-48600631-T-C | SNAI1 | c.353T>C | p.Val118Ala | Missense | 2/3 | - |
12-52881632-C-T | KRT6A | c.1567G>A | p.Val523Ile | Missense | 9/9 | - |
1-236911044-C-A | ACTN2 | c.1484C>A | p.Thr495Lys | Missense | 13/21 | - |
20-5096134-A-G | PCNA | c.667T>C | p.Ser223Pro | Missense | 6/7 | - |
8-17159718-A-G | MTMR7 | c.1565T>C | p.Met522Thr | Missense | 13/14 | - |
1-236911044-C-T | ACTN2 | c.1484C>T | p.Thr495Met | Missense | 13/21 | - |
5-82500641-G-A | XRCC4 | c.646G>A | p.Ala216Thr | Missense | 6/8 | - |
X-47483825-A-T | CFP | c.1259T>A | p.Met420Lys | Missense | 10/10 | - |
X-47483825-A-G | CFP | c.1259T>C | p.Met420Thr | Missense | 10/10 | - |
2-219266385-G-A | CTDSP1 | c.166G>A | p.Ala56Thr | Missense | 2/7 | - |
1-171077274-G-T | FMO3 | c.539G>T | p.Gly180Val | Missense | 5/9 | - |
17-34431344-G-A | CCL4 | c.46G>A | p.Ala16Thr | Missense | 1/3 | - |
15-45361177-G-T | SORD | c.713G>T | p.Gly238Val | Missense | 7/9 | - |
10-127542720-T-G | DHX32 | c.902A>C | p.Asp301Ala | Missense | 4/11 | - |
5-159821755-A-T | ZBED8 | c.743T>A | p.Met248Lys | Missense | 2/2 | - |
1-94140470-A-T | BCAR3 | c.17T>A | p.Phe6Tyr | Missense | 4/14 | - |
16-85722434-T-C | GINS2 | c.71A>G | p.Asp24Gly | Missense | 1/5 | - |
5-82500641-G-T | XRCC4 | c.646G>T | p.Ala216Ser | Missense | 6/8 | - |
3-52020630-A-G | ACY1 | c.536A>G | p.Asn179Ser | Missense | 8/15 | - |
X-112022687-T-C | AMOT | c.1468A>G | p.Thr490Ala | Missense | 11/12 | - |
11-103907737-T-G | DDI1 | c.187T>G | p.Ser63Ala | Missense | 1/1 | - |
19-39950556-A-G | SUPT5H | c.580A>G | p.Ile194Val | Missense | 9/29 | - |
5-74981103-C-T | POC5 | c.1261G>A | p.Ala421Thr | Missense | 9/11 | - |
2-163213305-A-T | GCA | c.344A>T | p.Lys115Ile | Missense | 5/8 | - |
11-66102557-C-T | RIN1 | c.713G>A | p.Arg238Gln | Missense | 6/10 | - |
5-74981103-C-A | POC5 | c.1261G>T | p.Ala421Ser | Missense | 9/11 | - |
X-48544153-G-A | WAS | c.391G>A | p.Glu131Lys | Missense | 4/12 | - |
12-53225251-G-A | KRT79 | c.637C>T | p.Arg213Trp | Missense | 2/9 | - |
11-61732574-C-G | FTH1 | c.272G>C | p.Cys91Ser | Missense | 3/4 | - |
12-110295424-C-T | GLTP | c.203G>A | p.Arg68Gln | Missense | 3/5 | - |
1-145688131-G-A | RNF115 | c.826G>A | p.Asp276Asn | Missense | 9/9 | - |
10-70044031-T-C | PBLD | c.770A>G | p.His257Arg | Missense | 10/10 | - |
3-145924348-C-A | PLSCR4 | c.319G>T | p.Ala107Ser | Missense | 4/9 | - |
6-136683828-A-G | MAP7 | c.1286T>C | p.Met429Thr | Missense | 11/18 | - |
18-52605235-G-A | CCDC68 | c.298C>T | p.Leu100Leu | Synonymous | 5/12 | - |
1-236849999-A-G | ACTN2 | c.26A>G | p.Gln9Arg | Missense | 1/21 | - |
13-52603896-G-A | ALG11 | c.*1170G>A | - | IntergenicSNV | 4/4 | - |
18-44561100-C-G | ELOA2 | c.536G>C | p.Arg179Pro | Missense | 1/1 | - |
18-44561100-C-A | ELOA2 | c.536G>T | p.Arg179Leu | Missense | 1/1 | - |
6-37250068-C-G | TBC1D22B | c.529C>G | p.Pro177Ala | Missense | 4/13 | - |
6-37250068-C-A | TBC1D22B | c.529C>A | p.Pro177Thr | Missense | 4/13 | - |
17-37985732-G-A | IKZF3 | c.71C>T | p.Ala24Val | Missense | 3/8 | - |
14-75747823-C-T | FOS | c.839C>T | p.Pro280Leu | Missense | 4/4 | - |
5-82500693-C-A | XRCC4 | c.698C>A | p.Thr233Asn | Missense | 6/8 | - |
11-47178652-C-G | C11orf49 | c.530C>G | p.Ser177Trp | Missense | 6/9 | - |
13-47354125-G-A | ESD | c.545C>T | p.Pro182Leu | Missense | 8/10 | - |
18-48581217-C-A | SMAD4 | c.521C>A | p.Thr174Asn | Missense | 5/12 | - |
6-121768751-C-T | GJA1 | c.758C>T | p.Ala253Val | Missense | 2/2 | - |
13-52440112-A-G | CCDC70 | c.598A>G | p.Met200Val | Missense | 2/2 | - |
11-65767578-G-A | EIF1AD | c.142C>T | p.Arg48Cys | Missense | 3/6 | - |
19-55656925-G-T | TNNT1 | c.115C>A | p.Arg39Ser | Missense | 6/14 | - |
1-16095104-G-A | FBLIM1 | c.520G>A | p.Val174Ile | Missense | 4/6 | - |
1-16095104-G-C | FBLIM1 | c.520G>C | p.Val174Leu | Missense | 4/6 | - |
11-65767578-G-C | EIF1AD | c.142C>G | p.Arg48Gly | Missense | 3/6 | - |
6-24495511-G-A | ALDH5A1 | c.287G>A | p.Arg96Gln | Missense | 1/10 | - |
13-47279258-G-T | LRCH1 | c.1456G>T | p.Ala486Ser | Missense | 12/19 | - |
1-228601506-C-T | TRIM17 | c.517G>A | p.Glu173Lys | Missense | 3/7 | - |
8-59343215-A-C | UBXN2B | c.326A>C | p.Asp109Ala | Missense | 3/8 | - |
17-42429500-C-T | GRN | c.1297C>T | p.Arg433Trp | Missense | 11/13 | - |
7-143087744-G-A | ZYX | c.1688G>A | p.Arg563Gln | Missense | 10/10 | - |
7-143087744-G-C | ZYX | c.1688G>C | p.Arg563Pro | Missense | 10/10 | - |
3-181430689-C-T | SOX2 | c.541C>T | p.Pro181Ser | Missense | 1/1 | - |
19-49337577-C-T | HSD17B14 | c.166G>A | p.Ala56Thr | Missense | 3/9 | - |
3-25502773-G-A | RARB | c.247G>A | p.Val83Ile | Missense | 2/8 | - |
3-181430689-C-G | SOX2 | c.541C>G | p.Pro181Ala | Missense | 1/1 | - |
20-60883201-C-T | ADRM1 | c.864C>T | p.Ile288Ile | Synonymous | 7/9 | - |
20-60883201-C-G | ADRM1 | c.864C>G | p.Ile288Met | Missense | 7/9 | - |
11-77931466-C-T | GAB2 | c.1786G>A | p.Val596Ile | Missense | 9/10 | - |
3-108380982-C-A | DZIP3 | c.2301C>A | p.Phe767Leu | Missense | 21/33 | - |
10-71332204-A-G | NEUROG3 | c.596T>C | p.Phe199Ser | Missense | 2/2 | - |
8-27668587-C-G | PBK | c.660G>C | p.Glu220Asp | Missense | 7/8 | - |
1-110655518-G-A | UBL4B | c.362G>A | p.Arg121His | Missense | 1/1 | - |
8-27668587-C-T | PBK | c.660G>A | p.Glu220Glu | Synonymous | 7/8 | - |
3-52021010-G-A | ACY1 | c.590G>A | p.Arg197Gln | Missense | 9/15 | - |
17-73126654-G-A | NT5C | c.415C>T | p.Arg139Trp | Missense | 4/4 | - |
12-122326812-T-C | PSMD9 | c.50T>C | p.Val17Ala | Missense | 1/6 | - |
3-49760117-C-T | GMPPB | c.473G>A | p.Arg158Gln | Missense | 5/8 | - |
16-67144115-G-A | C16orf70 | c.37G>A | p.Gly13Arg | Missense | 1/16 | - |
17-33428252-G-T | RAD51D | c.871C>A | p.Arg291Ser | Missense | 9/10 | - |
11-70052331-G-A | FADD | c.379G>A | p.Asp127Asn | Missense | 2/2 | - |
17-33428252-G-A | RAD51D | c.871C>T | p.Arg291Cys | Missense | 9/10 | - |
16-28617485-C-G | SULT1A1 | c.667G>C | p.Val223Leu | Missense | 7/8 | - |
4-110610559-A-T | CASP6 | c.809T>A | p.Ile270Asn | Missense | 7/7 | - |
20-60883442-G-A | ADRM1 | c.916G>A | p.Ala306Thr | Missense | 8/9 | - |
3-52023042-G-A | ACY1 | c.1178G>A | p.Arg393His | Missense | 15/15 | - |
3-184429332-T-C | MAGEF1 | c.278A>G | p.Lys93Arg | Missense | 1/1 | - |
X-99945125-T-C | SYTL4 | c.755A>G | p.Asp252Gly | Missense | 10/19 | - |
22-43010817-G-T | POLDIP3 | c.47C>A | p.Ala16Glu | Missense | 1/9 | - |
19-804613-G-C | PTBP1 | c.517G>C | p.Ala173Pro | Missense | 6/15 | - |
19-804613-G-A | PTBP1 | c.517G>A | p.Ala173Thr | Missense | 6/15 | - |
17-7577091-G-C | TP53 | c.847C>G | p.Arg283Gly | Missense | 8/11 | - |
12-10251445-C-G | CLEC1A | c.77G>C | p.Gly26Ala | Missense | 1/6 | - |
9-140317999-C-G | NOXA1 | c.18C>G | p.Asp6Glu | Missense | 1/14 | - |
9-116034726-T-C | CDC26 | c.62A>G | p.Asn21Ser | Missense | 3/4 | - |
18-44561619-G-A | ELOA2 | c.17C>T | p.Thr6Ile | Missense | 1/1 | - |
9-125075600-A-G | MRRF | c.646A>G | p.Met216Val | Missense | 6/7 | - |
X-153881552-C-T | CTAG2 | c.238G>A | p.Ala80Thr | Missense | 1/2 | - |
4-110610559-A-G | CASP6 | c.809T>C | p.Ile270Thr | Missense | 7/7 | - |
3-158320703-C-A | MLF1 | c.676C>A | p.Pro226Thr | Missense | 6/7 | - |
10-61112064-T-C | FAM13C | c.290A>G | p.Lys97Arg | Missense | 3/12 | - |
17-56424928-C-T | SUPT4H1 | c.194G>A | p.Ser65Asn | Missense | 3/5 | - |
1-20915740-G-A | CDA | c.118G>A | p.Ala40Thr | Missense | 1/4 | - |
7-148863090-G-C | ZNF398 | c.1-253G>C | - | IntronicSNV | 3/7 | - |
3-37090074-A-G | MLH1 | c.1963A>G | p.Ile655Val | Missense | 17/19 | - |
3-37090074-A-T | MLH1 | c.1963A>T | p.Ile655Phe | Missense | 17/19 | - |
16-28617485-C-T | SULT1A1 | c.667G>A | p.Val223Met | Missense | 7/8 | - |
8-21767240-G-C | DOK2 | c.821C>G | p.Pro274Arg | Missense | 5/5 | - |
8-21767240-G-A | DOK2 | c.821C>T | p.Pro274Leu | Missense | 5/5 | - |
6-41908122-G-A | CCND3 | c.400C>T | p.Pro134Ser | Missense | 2/5 | - |
22-43010817-G-A | POLDIP3 | c.47C>T | p.Ala16Val | Missense | 1/9 | - |
18-44561619-G-T | ELOA2 | c.17C>A | p.Thr6Asn | Missense | 1/1 | - |
19-4446164-G-A | UBXN6 | c.1082C>T | p.Ala361Val | Missense | 10/11 | - |
9-125075600-A-T | MRRF | c.646A>T | p.Met216Leu | Missense | 6/7 | - |
3-149245675-T-A | WWTR1 | c.853A>T | p.Thr285Ser | Missense | 5/7 | - |
X-69255284-G-T | EDA | c.1001G>T | p.Arg334Leu | Missense | 8/8 | - |
X-69255284-G-A | EDA | c.1001G>A | p.Arg334His | Missense | 8/8 | - |
X-69255284-G-C | EDA | c.1001G>C | p.Arg334Pro | Missense | 8/8 | - |
9-139889216-T-G | CLIC3 | c.628A>C | p.Met210Leu | Missense | 6/6 | - |
17-53077063-T-G | STXBP4 | c.358T>G | p.Cys120Gly | Missense | 6/18 | - |
19-41897843-C-T | EXOSC5 | c.287G>A | p.Arg96Gln | Missense | 3/6 | - |
1-236923045-C-T | ACTN2 | c.2323C>T | p.His775Tyr | Missense | 19/21 | - |
13-47354101-C-G | ESD | c.569G>C | p.Gly190Ala | Missense | 8/10 | - |
X-153247926-G-A | TMEM187 | c.413G>A | p.Arg138Gln | Missense | 2/2 | - |
2-70074757-A-C | GMCL1 | c.841A>C | p.Lys281Gln | Missense | 7/14 | - |
15-40558482-A-G | BUB1B-PAK6 | c.644A>G | p.His215Arg | Missense | 5/11 | - |
3-44762859-A-G | ZNF502 | c.550A>G | p.Thr184Ala | Missense | 4/4 | - |
17-48503723-C-T | ACSF2 | c.101C>T | p.Ala34Val | Missense | 1/16 | - |
1-110257831-T-C | GSTM5 | c.536T>C | p.Leu179Pro | Missense | 7/8 | - |
3-49308808-C-T | C3orf62 | c.609G>A | p.Met203Ile | Missense | 3/3 | - |
12-110352361-G-A | TCHP | c.1249G>A | p.Glu417Lys | Missense | 11/13 | - |
5-134782252-G-T | TIFAB | c.*2892C>A | - | IntergenicSNV | 2/2 | - |
3-149193623-C-T | TM4SF4 | c.188C>T | p.Ala63Val | Missense | 2/5 | - |
18-756674-C-G | YES1 | c.154G>C | p.Val52Leu | Missense | 2/12 | - |
16-129562-C-A | MPG | c.163C>A | p.Arg55Ser | Missense | 2/4 | - |
6-97052644-C-T | FHL5 | c.178C>T | p.Arg60Trp | Missense | 4/7 | - |
X-152159323-C-T | PNMA5 | c.820G>A | p.Val274Met | Missense | 2/2 | - |
17-40722029-A-G | MLX | c.668A>G | p.Gln223Arg | Missense | 7/8 | - |
1-152487917-G-A | CRCT1 | c.58G>A | p.Gly20Ser | Missense | 2/2 | - |
1-52732437-G-A | ZFYVE9 | c.2279-1698G>A | - | IntronicSNV | - | 5/17 |
1-52732437-G-C | ZFYVE9 | c.2279-1698G>C | - | IntronicSNV | - | 5/17 |
9-97367786-C-T | FBP1 | c.778G>A | p.Gly260Arg | Missense | 6/7 | - |
5-917145-G-A | TRIP13 | c.1226G>A | p.Gly409Glu | Missense | 13/13 | - |
16-46712896-G-A | VPS35 | c.679C>T | p.Leu227Phe | Missense | 6/17 | - |
X-52893843-T-A | XAGE3 | c.274A>T | p.Ile92Phe | Missense | 4/5 | - |
9-104125056-A-G | BAAT | c.911T>C | p.Val304Ala | Missense | 4/4 | - |
11-32421544-A-G | WT1 | c.1012T>C | - | missense_variant | 5/9 | - |
15-45361219-G-T | SORD | c.755G>T | p.Gly252Val | Missense | 7/9 | - |
1-223116472-G-A | DISP1 | c.307G>A | p.Glu103Lys | Missense | 4/10 | - |
2-48061736-T-C | FBXO11 | c.664A>G | p.Ile222Val | Missense | 7/23 | - |
1-152785261-C-G | LCE1B | c.339C>G | p.His113Gln | Missense | 1/1 | - |
3-184910249-A-G | EHHADH | c.1649T>C | p.Ile550Thr | Missense | 7/7 | - |
17-66038248-G-A | KPNA2 | c.350G>A | p.Arg117Gln | Missense | 5/11 | - |
13-28141835-T-C | LNX2 | c.797A>G | p.Tyr266Cys | Missense | 4/10 | - |
6-36652228-G-A | CDKN1A | c.350G>A | p.Cys117Tyr | Missense | 3/4 | - |
12-113867073-G-C | SDSL | c.323G>C | p.Gly108Ala | Missense | 5/9 | - |
1-223568624-A-G | CCDC185 | c.1807A>G | p.Ser603Gly | Missense | 1/1 | - |
15-40498503-T-C | BUB1B | c.1853T>C | p.Val618Ala | Missense | 15/23 | - |
13-28143388-C-T | LNX2 | c.433G>A | p.Val145Ile | Missense | 3/10 | - |
21-31692277-G-T | KRTAP26-1 | c.77C>A | p.Ser26Tyr | Missense | 1/1 | - |
19-48537550-C-A | CABP5 | c.418G>T | p.Glu140* | Nonsense | 5/6 | - |
1-211652466-C-T | RD3 | c.500G>A | p.Arg167Lys | Missense | 3/3 | - |
3-33906823-G-T | PDCD6IP | c.2348G>T | p.Gly783Val | Missense | 17/18 | - |
16-129562-C-T | MPG | c.163C>T | p.Arg55Cys | Missense | 2/4 | - |
13-48807588-C-T | ITM2B | c.92C>T | p.Pro31Leu | Missense | 1/6 | - |
13-48807588-C-A | ITM2B | c.92C>A | p.Pro31His | Missense | 1/6 | - |
1-16097059-G-A | FBLIM1 | c.697G>A | p.Glu233Lys | Missense | 5/6 | - |
4-56319244-G-T | CLOCK | c.1183C>A | p.Leu395Ile | Missense | 15/23 | - |
5-75001582-A-G | POC5 | c.179T>C | p.Ile60Thr | Missense | 3/11 | - |
9-97367834-G-A | FBP1 | c.730C>T | p.Arg244Trp | Missense | 6/7 | - |
12-12871801-A-G | CDKN1B | c.518A>G | p.Asn173Ser | Missense | 2/3 | - |
2-220072431-C-A | ZFAND2B | c.212C>A | p.Pro71His | Missense | 3/9 | - |
2-219497011-C-A | PLCD4 | c.1425C>A | p.Asn475Lys | Missense | 10/16 | - |
11-6630846-T-C | ILK | c.832T>C | p.Tyr278His | Missense | 9/13 | - |
11-6630846-T-A | ILK | c.832T>A | p.Tyr278Asn | Missense | 9/13 | - |
20-5098283-T-C | PCNA | c.415A>G | p.Met139Val | Missense | 5/7 | - |
X-152160081-A-T | PNMA5 | c.62T>A | p.Leu21Gln | Missense | 2/2 | - |
17-37900864-C-T | GRB7 | c.860C>T | p.Thr287Met | Missense | 8/15 | - |
8-16026259-A-G | MSR1 | c.338T>C | p.Val113Ala | Missense | 4/9 | - |
22-24236972-A-C | MIF | c.122A>C | p.His41Pro | Missense | 2/3 | - |
9-34610915-C-T | RPP25L | c.379G>A | p.Asp127Asn | Missense | 2/2 | - |
17-44249199-T-G | KANSL1 | c.311A>C | p.Lys104Thr | Missense | 2/15 | - |
7-143080060-A-T | ZYX | c.668A>T | p.His223Leu | Missense | 5/10 | - |
10-81926702-G-A | ANXA11 | c.688C>T | p.Arg230Cys | Missense | 8/17 | - |
9-139266496-C-A | CARD9 | c.35G>T | p.Ser12Ile | Missense | 2/13 | - |
22-21354595-C-A | THAP7 | c.504G>T | p.Glu168Asp | Missense | 4/4 | - |
9-140109141-C-T | NDOR1 | c.842C>T | p.Pro281Leu | Missense | 7/14 | - |
X-48207029-C-A | SSX3 | c.477G>T | p.Arg159Ser | Missense | 7/8 | - |
3-145917761-T-C | PLSCR4 | c.463A>G | p.Ile155Val | Missense | 6/9 | - |
20-60883191-C-T | ADRM1 | c.854C>T | p.Ala285Val | Missense | 7/9 | - |
12-7080187-C-G | EMG1 | c.101C>G | p.Ala34Gly | Missense | 1/7 | - |
1-15545913-A-T | TMEM51 | c.436A>T | p.Arg146Trp | Missense | 3/3 | - |
2-28081344-C-T | RBKS | c.184G>A | p.Ala62Thr | Missense | 2/8 | - |
12-53699765-G-A | C12orf10 | c.563G>A | p.Arg188Gln | Missense | 4/7 | - |
X-112048284-G-A | AMOT | c.440C>T | p.Ala147Val | Missense | 6/12 | - |
12-56602002-C-T | RNF41 | c.443G>A | p.Arg148His | Missense | 5/7 | - |
10-124713673-C-G | C10orf88 | c.22G>C | p.Gly8Arg | Missense | 1/6 | - |
6-36653548-C-T | CDKN1A | c.466C>T | p.Arg156Trp | Missense | 4/4 | - |
6-36653548-C-G | CDKN1A | c.466C>G | p.Arg156Gly | Missense | 4/4 | - |
1-20944963-G-A | CDA | c.343G>A | p.Val115Met | Missense | 4/4 | - |
14-96178130-C-T | TCL1A | c.307G>A | p.Val103Met | Missense | 3/4 | - |
17-46929982-A-G | CALCOCO2 | c.817A>G | p.Thr273Ala | Missense | 8/13 | - |
14-96178130-C-A | TCL1A | c.307G>T | p.Val103Leu | Missense | 3/4 | - |
13-52603194-G-T | ALG11 | c.*468G>T | - | 3-UTRSNV | 4/4 | - |
X-149013071-C-T | MAGEA8 | c.25C>T | p.Arg9Cys | Missense | 3/3 | - |
2-70057206-A-C | GMCL1 | c.182A>C | p.Tyr61Ser | Missense | 1/14 | - |
11-112101362-C-T | PTS | c.200C>T | p.Thr67Met | Missense | 4/6 | - |
10-14939212-G-C | SUV39H2 | c.365G>C | p.Ser122Thr | Missense | 2/5 | - |
22-22322028-G-A | TOP3B | c.799C>T | p.Arg267Trp | Missense | 8/18 | - |
17-42429903-C-A | GRN | c.1608C>A | p.Asp536Glu | Missense | 12/13 | - |
6-97058547-A-C | FHL5 | c.604A>C | p.Met202Leu | Missense | 6/7 | - |
17-42429903-C-T | GRN | c.1608C>T | p.Asp536Asp | Synonymous | 12/13 | - |
11-1298304-T-C | TOLLIP | c.790A>G | p.Ile264Val | Missense | 6/6 | - |
19-375735-T-C | THEG | c.236A>G | p.Asp79Gly | Missense | 1/8 | - |
2-95542413-G-A | TEKT4 | c.1207G>A | p.Asp403Asn | Missense | 6/6 | - |
5-74998501-C-T | POC5 | c.367G>A | p.Asp123Asn | Missense | 4/11 | - |
19-46417875-C-T | NANOS2 | c.77G>A | p.Arg26Gln | Missense | 1/1 | - |
19-46417875-C-G | NANOS2 | c.77G>C | p.Arg26Pro | Missense | 1/1 | - |
10-106039185-A-G | GSTO2 | c.424A>G | p.Asn142Asp | Missense | 5/7 | - |
9-35107740-C-T | FAM214B | c.532G>A | p.Ala178Thr | Missense | 3/9 | - |
11-65714583-A-T | TSGA10IP | c.287A>T | p.His96Leu | Missense | 3/8 | - |
6-34498120-A-G | PACSIN1 | c.889A>G | p.Met297Val | Missense | 7/10 | - |
2-95537514-C-T | TEKT4 | c.190C>T | p.Arg64Trp | Missense | 1/6 | - |
1-182353805-C-A | GLUL | c.857G>T | p.Arg286Leu | Missense | 8/8 | - |
16-11643569-C-T | LITAF | c.410G>A | p.Cys137Tyr | Missense | 4/4 | - |
10-95278683-G-A | CEP55 | c.1043G>A | p.Arg348Lys | Missense | 7/9 | - |
19-13996810-T-C | C19orf57 | c.1727A>G | p.Asn576Ser | Missense | 7/8 | - |
18-2595443-G-T | NDC80 | c.1044G>T | p.Glu348Asp | Missense | 11/17 | - |
18-47918537-G-A | SKA1 | c.688G>A | p.Val230Met | Missense | 7/7 | - |
6-42930512-C-G | GNMT | c.347C>G | p.Ala116Gly | Missense | 3/6 | - |
12-99020373-C-A | IKBIP | c.469G>T | p.Asp157Tyr | Missense | 3/3 | - |
3-37089037-A-G | MLH1 | c.1759A>G | p.Met587Val | Missense | 16/19 | - |
3-180327473-G-C | TTC14 | c.1456G>C | p.Glu486Gln | Missense | 12/12 | - |
17-46052883-G-A | CDK5RAP3 | c.517G>A | p.Glu173Lys | Missense | 7/14 | - |
4-4276198-C-T | LYAR | c.728G>A | p.Gly243Asp | Missense | 7/10 | - |
4-4276198-C-A | LYAR | c.728G>T | p.Gly243Val | Missense | 7/10 | - |
5-78421959-G-A | BHMT | c.716G>A | p.Arg239Gln | Missense | 6/8 | - |
15-90903502-G-A | ZNF774 | c.439G>A | p.Val147Ile | Missense | 4/4 | - |
3-37089130-A-G | MLH1 | c.1852A>G | p.Lys618Glu | Missense | 16/19 | - |
19-9449242-T-G | ZNF559-ZNF177 | c.-407T>G | - | 5_prime_UTR_variant | 3/12 | - |
1-182353805-C-T | GLUL | c.857G>A | p.Arg286His | Missense | 8/8 | - |
8-103564221-G-T | ODF1 | c.266G>T | p.Ser89Ile | Missense | 1/2 | - |
2-171822525-C-T | GORASP2 | c.1040C>T | p.Thr347Met | Missense | 10/10 | - |
1-182357821-T-G | GLUL | c.52A>C | p.Met18Leu | Missense | 3/8 | - |
8-66534525-A-G | ARMC1 | c.248T>C | p.Met83Thr | Missense | 3/7 | - |
12-99020373-C-T | IKBIP | c.469G>A | p.Asp157Asn | Missense | 3/3 | - |
14-20781947-C-T | CCNB1IP1 | c.311G>A | p.Arg104His | Missense | 6/7 | - |
16-84778685-A-G | USP10 | c.610A>G | p.Met204Val | Missense | 5/15 | - |
1-60287549-C-T | HOOK1 | c.83C>T | p.Ala28Val | Missense | 2/22 | - |
17-33446143-C-G | RAD51D | c.131G>C | p.Gly44Ala | Missense | 2/10 | - |
17-33446143-C-T | RAD51D | c.131G>A | p.Gly44Asp | Missense | 2/10 | - |
1-154919080-C-T | PBXIP1 | c.1070G>A | p.Gly357Asp | Missense | 10/11 | - |
22-19951103-G-A | COMT | c.304G>A | p.Ala102Thr | Missense | 4/6 | - |
1-60338579-A-G | HOOK1 | c.2129A>G | p.His710Arg | Missense | 22/22 | - |
11-66204624-G-A | MRPL11 | c.424C>T | p.Arg142Cys | Missense | 4/5 | - |
15-41605529-A-T | OIP5 | c.536T>A | p.Ile179Lys | Missense | 4/5 | - |
7-152346007-C-T | XRCC2 | c.563G>A | p.Arg188His | Missense | 3/3 | - |
7-152346007-C-G | XRCC2 | c.563G>C | p.Arg188Pro | Missense | 3/3 | - |
12-53344167-G-A | KRT18 | c.473G>A | p.Arg158His | Missense | 3/8 | - |
5-150431808-G-T | TNIP1 | c.640C>A | p.Gln214Lys | Missense | 7/18 | - |
12-52881632-C-A | KRT6A | c.1567G>T | p.Val523Phe | Missense | 9/9 | - |
17-39137387-C-T | KRT40 | c.704G>A | p.Arg235His | Missense | 6/9 | - |
1-223116474-G-T | DISP1 | c.309G>T | p.Glu103Asp | Missense | 4/10 | - |
14-20784560-A-C | CCNB1IP1 | c.123T>G | p.Phe41Leu | Missense | 5/7 | - |
8-90784979-T-C | RIPK2 | c.776T>C | p.Ile259Thr | Missense | 6/11 | - |
11-103908517-G-A | DDI1 | c.967G>A | p.Asp323Asn | Missense | 1/1 | - |
6-117923294-C-T | GOPC | c.158G>A | p.Gly53Glu | Missense | 1/9 | - |
1-169823707-G-A | SCYL3 | c.1873C>T | p.Leu625Phe | Missense | 13/14 | - |
8-103564006-G-C | ODF1 | c.51G>C | p.Lys17Asn | Missense | 1/2 | - |
22-42912106-C-G | RRP7A | c.253G>C | p.Val85Leu | Missense | 3/7 | - |
4-110618915-A-C | CASP6 | c.93T>G | p.Phe31Leu | Missense | 3/7 | - |
2-231333763-A-G | SP100 | c.1297A>G | p.Met433Val | Missense | 14/25 | - |
X-152159362-T-C | PNMA5 | c.781A>G | p.Thr261Ala | Missense | 2/2 | - |
7-5568097-C-G | ACTB | c.617G>C | p.Arg206Pro | Missense | 4/6 | - |
9-135668127-G-A | AK8 | c.1015C>T | p.Arg339Cys | Missense | 11/13 | - |
12-52882292-C-A | KRT6A | c.1244G>T | p.Arg415Leu | Missense | 7/9 | - |
1-151140742-C-T | SCNM1 | c.521C>T | p.Ala174Val | Missense | 6/7 | - |
13-50205025-T-C | ARL11 | c.442T>C | p.Cys148Arg | Missense | 2/2 | - |
14-94510330-G-A | OTUB2 | c.232G>A | p.Val78Ile | Missense | 4/6 | - |
11-61675714-T-C | RAB3IL1 | c.76A>G | p.Thr26Ala | Missense | 2/10 | - |
1-60314790-G-C | HOOK1 | c.1177G>C | p.Asp393His | Missense | 12/22 | - |
1-60314790-G-T | HOOK1 | c.1177G>T | p.Asp393Tyr | Missense | 12/22 | - |
2-25674488-T-C | DTNB | c.1186A>G | p.Ser396Gly | Missense | 12/20 | - |
22-42912106-C-T | RRP7A | c.253G>A | p.Val85Ile | Missense | 3/7 | - |
19-9267319-G-T | ZNF317 | c.57G>T | p.Gln19His | Missense | 3/7 | - |
7-143000954-G-A | CASP2 | c.1045G>A | p.Gly349Ser | Missense | 9/11 | - |
7-143000954-G-C | CASP2 | c.1045G>C | p.Gly349Arg | Missense | 9/11 | - |
2-39008801-T-G | GEMIN6 | c.271T>G | p.Cys91Gly | Missense | 3/3 | - |
X-152159362-T-A | PNMA5 | c.781A>T | p.Thr261Ser | Missense | 2/2 | - |
19-9267319-G-A | ZNF317 | c.57G>A | p.Gln19Gln | Synonymous | 3/7 | - |
3-37089130-A-T | MLH1 | c.1852A>T | p.Lys618* | Nonsense | 16/19 | - |
12-52882292-C-T | KRT6A | c.1244G>A | p.Arg415His | Missense | 7/9 | - |
3-12421238-C-G | PPARG | c.34C>G | p.Pro12Ala | Missense | 2/7 | - |
11-77932758-C-T | GAB2 | c.1726G>A | p.Asp576Asn | Missense | 8/10 | - |
19-44612231-A-G | ZNF224 | c.1918A>G | p.Lys640Glu | Missense | 6/6 | - |
8-146278038-G-A | C8orf33 | c.73G>A | p.Gly25Arg | Missense | 2/5 | - |
7-148873652-G-A | ZNF398 | c.241G>A | p.Val81Met | Missense | 6/7 | - |
1-154962679-G-A | FLAD1 | c.1310G>A | p.Arg437His | Missense | 4/7 | - |
13-50205025-T-G | ARL11 | c.442T>G | p.Cys148Gly | Missense | 2/2 | - |
8-146278038-G-T | C8orf33 | c.73G>T | p.Gly25* | Nonsense | 2/5 | - |
17-39034610-G-T | KRT20 | c.926C>A | p.Ser309Tyr | Missense | 6/8 | - |
1-19609295-G-A | AKR7A3 | c.926C>T | p.Pro309Leu | Missense | 7/7 | - |
12-122353796-A-C | PSMD9 | c.590A>C | p.Glu197Ala | Missense | 5/6 | - |
5-79616936-A-C | SPZ1 | c.902A>C | p.His301Pro | Missense | 1/1 | - |
18-48581261-C-A | SMAD4 | c.565C>A | p.Arg189Ser | Missense | 5/12 | - |
18-48581261-C-G | SMAD4 | c.565C>G | p.Arg189Gly | Missense | 5/12 | - |
18-48581261-C-T | SMAD4 | c.565C>T | p.Arg189Cys | Missense | 5/12 | - |
12-31944944-G-A | H3F3C | c.157C>T | p.Arg53Cys | Missense | 1/1 | - |
12-31944944-G-T | H3F3C | c.157C>A | p.Arg53Ser | Missense | 1/1 | - |
12-31944944-G-C | H3F3C | c.157C>G | p.Arg53Gly | Missense | 1/1 | - |
19-48543906-G-A | CABP5 | c.194C>T | p.Thr65Met | Missense | 3/6 | - |
19-48543906-G-T | CABP5 | c.194C>A | p.Thr65Lys | Missense | 3/6 | - |
19-48543906-G-C | CABP5 | c.194C>G | p.Thr65Arg | Missense | 3/6 | - |
X-38156584-T-C | RPGR | c.1367A>G | p.Gln456Arg | Missense | 11/19 | - |
13-21742311-C-T | SKA3 | c.559G>A | p.Val187Ile | Missense | 4/9 | - |
17-7529901-C-T | SAT2 | c.377G>A | p.Arg126His | Missense | 6/6 | - |
3-49760431-G-C | GMPPB | c.376C>G | p.His126Asp | Missense | 4/8 | - |
3-49760431-G-A | GMPPB | c.376C>T | p.His126Tyr | Missense | 4/8 | - |
12-44161972-A-T | IRAK4 | c.58A>T | p.Arg20Trp | Missense | 3/13 | - |
7-56087413-A-G | PSPH | c.155T>C | p.Met52Thr | Missense | 5/8 | - |
14-55611955-T-G | LGALS3 | c.719T>G | p.Ile240Arg | Missense | 6/6 | - |
14-55611955-T-C | LGALS3 | c.719T>C | p.Ile240Thr | Missense | 6/6 | - |
17-7529901-C-A | SAT2 | c.377G>T | p.Arg126Leu | Missense | 6/6 | - |
8-27679981-T-C | PBK | c.320A>G | p.Asn107Ser | Missense | 5/8 | - |
6-30126285-C-T | TRIM10 | c.647G>A | p.Arg216Lys | Missense | 3/7 | - |
17-39156084-T-C | KRTAP3-2 | c.22A>G | p.Ser8Gly | Missense | 1/1 | - |
17-39156084-T-G | KRTAP3-2 | c.22A>C | p.Ser8Arg | Missense | 1/1 | - |
17-7130842-C-T | DVL2 | c.1244G>A | p.Arg415Gln | Missense | 12/15 | - |
19-10677955-C-T | CDKN2D | c.280G>A | p.Val94Met | Missense | 3/3 | - |
12-44161948-C-T | IRAK4 | c.34C>T | p.Arg12Cys | Missense | 3/13 | - |
17-28601118-A-G | BLMH | c.743T>C | p.Ile248Thr | Missense | 7/12 | - |
12-58143021-G-T | CDK4 | c.763C>A | p.Arg255Ser | Missense | 7/8 | - |
12-58143021-G-A | CDK4 | c.763C>T | p.Arg255Cys | Missense | 7/8 | - |
20-48522392-G-A | SPATA2 | c.1327C>T | p.Leu443Phe | Missense | 3/3 | - |
3-58553075-T-C | FAM107A | c.187A>G | p.Ser63Gly | Missense | 4/5 | - |
3-58553075-T-G | FAM107A | c.187A>C | p.Ser63Arg | Missense | 4/5 | - |
X-37932876-G-A | SYTL5 | c.479G>A | p.Arg160His | Missense | 5/17 | - |
4-169083694-A-C | ANXA10 | c.211A>C | p.Met71Leu | Missense | 4/12 | - |
2-95542326-A-G | TEKT4 | c.1120A>G | p.Met374Val | Missense | 6/6 | - |
1-15546040-A-G | TMEM51 | c.563A>G | p.Asp188Gly | Missense | 3/3 | - |
5-134782396-T-A | TIFAB | c.*2748A>T | - | IntergenicSNV | 2/2 | - |
16-57283730-G-A | ARL2BP | c.259G>A | p.Glu87Lys | Missense | 4/6 | - |
17-39140183-C-T | KRT40 | c.343G>A | p.Ala115Thr | Missense | 3/9 | - |
20-45318031-G-A | TP53RK | c.23C>T | p.Thr8Met | Missense | 1/2 | - |
16-85711927-A-G | GINS2 | c.449T>C | p.Leu150Ser | Missense | 5/5 | - |
5-56558504-C-G | GPBP1 | c.1347C>G | p.Ser449Arg | Missense | 12/12 | - |
11-34904972-T-C | APIP | c.541A>G | p.Met181Val | Missense | 6/7 | - |
5-148695816-T-C | AFAP1L1 | c.1217T>C | p.Leu406Pro | Missense | 11/19 | - |
10-135053784-A-G | VENTX | c.751A>G | p.Met251Val | Missense | 3/3 | - |
15-101832180-C-T | SNRPA1 | c.296G>A | p.Ser99Asn | Missense | 3/9 | - |
2-225378348-T-C | CUL3 | c.349A>G | p.Ile117Val | Missense | 4/15 | - |
12-58143020-C-T | CDK4 | c.764G>A | p.Arg255His | Missense | 7/8 | - |
12-12871765-C-G | CDKN1B | c.482C>G | p.Ser161Cys | Missense | 2/3 | - |
8-11301625-C-T | FAM167A | c.296G>A | p.Ser99Asn | Missense | 2/3 | - |
8-11301625-C-G | FAM167A | c.296G>C | p.Ser99Thr | Missense | 2/3 | - |
17-79994265-G-A | DCXR | c.502C>T | p.His168Tyr | Missense | 6/8 | - |
6-34496473-A-G | PACSIN1 | c.275A>G | p.Asp92Gly | Missense | 4/10 | - |
5-99871518-A-G | FAM174A | c.284A>G | p.Asp95Gly | Missense | 1/3 | - |
4-104012365-A-G | BDH2 | c.326T>C | p.Met109Thr | Missense | 5/10 | - |
21-46086377-A-G | TSPEAR | c.82+44971T>C | - | IntronicSNV | - | 1/11 |
21-46086377-A-C | TSPEAR | c.82+44971T>G | - | IntronicSNV | - | 1/11 |
17-39135084-A-G | KRT40 | c.1168T>C | p.Trp390Arg | Missense | 8/9 | - |
21-46086377-A-T | TSPEAR | c.82+44971T>A | - | IntronicSNV | - | 1/11 |
13-21732175-G-C | SKA3 | c.1005C>G | p.Asp335Glu | Missense | 7/9 | - |
13-52603266-T-A | ALG11 | c.*540T>A | - | 3-UTRSNV | 4/4 | - |
13-37580078-C-A | EXOSC8 | c.260C>A | p.Pro87His | Missense | 6/11 | - |
17-66039095-C-T | KPNA2 | c.646C>T | p.Pro216Ser | Missense | 6/11 | - |
2-198363548-G-C | HSPD1 | c.25C>G | p.Arg9Gly | Missense | 2/12 | - |
21-37518706-G-A | CBR3 | c.730G>A | p.Val244Met | Missense | 3/3 | - |
13-52603679-A-G | ALG11 | c.*953A>G | - | 3-UTRSNV | 4/4 | - |
17-7137424-G-C | DVL2 | c.158C>G | p.Ala53Gly | Missense | 1/15 | - |
11-18421014-G-A | LDHA | c.163G>A | p.Glu55Lys | Missense | 3/8 | - |
11-34988354-A-G | PDHX | c.809A>G | p.Asn270Ser | Missense | 6/11 | - |
6-41884544-C-T | MED20 | c.148G>A | p.Ala50Thr | Missense | 2/4 | - |
6-41884544-C-A | MED20 | c.148G>T | p.Ala50Ser | Missense | 2/4 | - |
15-90903611-A-C | ZNF774 | c.548A>C | p.Glu183Ala | Missense | 4/4 | - |
7-142988644-T-A | CASP2 | c.86T>A | p.Val29Glu | Missense | 2/11 | - |
19-49316795-T-C | HSD17B14 | c.557A>G | p.Asn186Ser | Missense | 8/9 | - |
19-58773189-A-C | ZNF544 | c.1217A>C | p.Lys406Thr | Missense | 7/7 | - |
1-155300291-G-T | RUSC1 | c.2638G>T | p.Asp880Tyr | Missense | 10/10 | - |
6-159407447-G-C | RSPH3 | c.637C>G | p.Arg213Gly | Missense | 3/8 | - |
9-35079502-G-A | FANCG | c.20C>T | p.Ser7Phe | Missense | 1/14 | - |
11-73122521-G-C | FAM168A | c.338C>G | p.Pro113Arg | Missense | 5/8 | - |
16-88066717-C-T | BANP | c.949C>T | p.Pro317Ser | Missense | 8/12 | - |
12-44148901-T-C | PUS7L | c.148A>G | p.Ile50Val | Missense | 2/9 | - |
2-175939488-G-A | ATF2 | c.1367C>T | p.Ser456Leu | Missense | 14/14 | - |
17-66036837-A-G | KPNA2 | c.257A>G | p.Asn86Ser | Missense | 4/11 | - |
2-105979900-C-T | FHL2 | c.530G>A | p.Arg177Gln | Missense | 6/7 | - |
15-43483843-T-C | CCNDBP1 | c.830T>C | p.Ile277Thr | Missense | 8/11 | - |
19-49469093-G-A | FTL | c.169G>A | p.Glu57Lys | Missense | 2/4 | - |
3-37061893-T-A | MLH1 | c.977T>A | p.Val326Glu | Missense | 11/19 | - |
11-18424407-G-T | LDHA | c.439G>T | p.Ala147Ser | Missense | 5/8 | - |
3-37061893-T-C | MLH1 | c.977T>C | p.Val326Ala | Missense | 11/19 | - |
1-24122482-C-T | GALE | c.1004G>A | p.Arg335His | Missense | 12/12 | - |
1-24122482-C-G | GALE | c.1004G>C | p.Arg335Pro | Missense | 12/12 | - |
12-124107280-G-T | EIF2B1 | c.656C>A | p.Ala219Asp | Missense | 8/9 | - |
3-49716357-T-C | APEH | c.1133T>C | p.Phe378Ser | Missense | 12/22 | - |
6-170862300-G-C | PSMB1 | c.31C>G | p.Pro11Ala | Missense | 1/6 | - |
1-155296421-G-A | RUSC1 | c.1912G>A | p.Gly638Ser | Missense | 8/10 | - |
3-137483946-C-G | SOX14 | c.320C>G | p.Ala107Gly | Missense | 1/1 | - |
3-137483946-C-A | SOX14 | c.320C>A | p.Ala107Glu | Missense | 1/1 | - |
X-38156660-T-A | RPGR | c.1291A>T | p.Ile431Leu | Missense | 11/19 | - |
9-123675629-G-A | TRAF1 | c.682C>T | p.Arg228Cys | Missense | 5/8 | - |
15-40512901-A-C | BUB1B-PAK6 | c.-201+3033A>C | - | intron_variant | - | 1/10 |
6-36652067-C-A | CDKN1A | c.189C>A | p.Phe63Leu | Missense | 3/4 | - |
10-45920506-G-C | ALOX5 | c.760G>C | p.Glu254Gln | Missense | 6/14 | - |
10-45920506-G-A | ALOX5 | c.760G>A | p.Glu254Lys | Missense | 6/14 | - |
7-92244486-T-C | CDK6 | c.949A>G | p.Ser317Gly | Missense | 8/8 | - |
7-92244486-T-G | CDK6 | c.949A>C | p.Ser317Arg | Missense | 8/8 | - |
19-375855-C-T | THEG | c.116G>A | p.Ser39Asn | Missense | 1/8 | - |
22-39918517-G-C | ATF4 | c.966G>C | p.Glu322Asp | Missense | 2/2 | - |
7-38475878-C-G | AMPH | c.1128G>C | p.Met376Ile | Missense | 12/21 | - |
7-38475878-C-T | AMPH | c.1128G>A | p.Met376Ile | Missense | 12/21 | - |
2-95540570-C-G | TEKT4 | c.763C>G | p.Arg255Gly | Missense | 4/6 | - |
11-44089352-G-A | ACCS | c.175G>A | p.Asp59Asn | Missense | 2/15 | - |
16-3085326-C-G | BICDL2 | c.172G>C | p.Glu58Gln | Missense | 1/9 | - |
17-79993919-C-T | DCXR | c.646G>A | p.Ala216Thr | Missense | 8/8 | - |
1-170007449-C-T | KIFAP3 | c.499G>A | p.Glu167Lys | Missense | 5/20 | - |
6-42931103-T-C | GNMT | c.632T>C | p.Ile211Thr | Missense | 5/6 | - |
X-38156660-T-C | RPGR | c.1291A>G | p.Ile431Val | Missense | 11/19 | - |
10-135125249-G-A | ZNF511 | c.584G>A | p.Ser195Asn | Missense | 5/6 | - |
5-56542905-A-G | GPBP1 | c.667A>G | p.Thr223Ala | Missense | 8/12 | - |
8-37996388-C-G | ASH2L | c.1774C>G | p.Arg592Gly | Missense | 15/16 | - |
10-118101700-C-G | CCDC172 | c.435C>G | p.Asn145Lys | Missense | 5/9 | - |
1-182356372-G-C | GLUL | c.222C>G | p.Asn74Lys | Missense | 4/8 | - |
17-56164549-A-G | DYNLL2 | c.98A>G | p.Asn33Ser | Missense | 2/3 | - |
1-182356372-G-A | GLUL | c.222C>T | p.Asn74Asn | Synonymous | 4/8 | - |
13-21742311-C-G | SKA3 | c.559G>C | p.Val187Leu | Missense | 4/9 | - |
2-95537568-C-G | TEKT4 | c.244C>G | p.Arg82Gly | Missense | 1/6 | - |
6-28251663-A-G | PGBD1 | c.73A>G | p.Thr25Ala | Missense | 2/7 | - |
6-37336947-G-C | RNF8 | c.928G>C | p.Val310Leu | Missense | 3/8 | - |
17-49233095-G-A | NME1 | c.80G>A | p.Arg27His | Missense | 2/5 | - |
1-15546187-C-T | TMEM51 | c.710C>T | p.Pro237Leu | Missense | 3/3 | - |
16-30545919-C-T | ZNF747 | c.82G>A | p.Gly28Arg | Missense | 1/2 | - |
6-28264717-C-T | PGBD1 | c.767C>T | p.Pro256Leu | Missense | 5/7 | - |
1-3807510-C-G | C1orf174 | c.241G>C | p.Ala81Pro | Missense | 3/4 | - |
1-3807510-C-T | C1orf174 | c.241G>A | p.Ala81Thr | Missense | 3/4 | - |
20-60883762-A-C | ADRM1 | c.1052A>C | p.Lys351Thr | Missense | 9/9 | - |
1-91973914-A-T | CDC7 | c.295A>T | p.Ile99Leu | Missense | 4/12 | - |
1-91973914-A-G | CDC7 | c.295A>G | p.Ile99Val | Missense | 4/12 | - |
17-46928952-G-A | CALCOCO2 | c.664G>A | p.Glu222Lys | Missense | 7/13 | - |
11-45975130-C-T | PHF21A | c.1043G>A | p.Arg348His | Missense | 10/18 | - |
6-138196060-C-T | TNFAIP3 | c.374C>T | p.Ala125Val | Missense | 3/9 | - |
6-41903782-A-C | CCND3 | c.775T>G | p.Ser259Ala | Missense | 5/5 | - |
6-41903782-A-T | CCND3 | c.775T>A | p.Ser259Thr | Missense | 5/5 | - |
6-41903782-A-G | CCND3 | c.775T>C | p.Ser259Pro | Missense | 5/5 | - |
12-53344142-A-G | KRT18 | c.448A>G | p.Ile150Val | Missense | 3/8 | - |
5-78417158-G-A | BHMT | c.595G>A | p.Gly199Ser | Missense | 5/8 | - |
15-101833366-G-A | SNRPA1 | c.94C>T | p.Pro32Ser | Missense | 2/9 | - |
1-213032149-CTG-TTT | FLVCR1 | c.355_357delCTGinsTTT | p.Leu119Phe | Missense | 1/10 | - |
11-71259822-A-G | KRTAP5-9 | c.119A>G | p.Tyr40Cys | Missense | 1/1 | - |
16-4835850-G-A | SEPT12 | c.332C>T | p.Thr111Met | Missense | 4/10 | - |
16-4835850-G-T | SEPT12 | c.332C>A | p.Thr111Lys | Missense | 4/10 | - |
9-139820309-G-A | TRAF2 | c.1462G>A | p.Asp488Asn | Missense | 11/11 | - |
6-28264681-G-A | PGBD1 | c.731G>A | p.Gly244Glu | Missense | 5/7 | - |
5-78417152-C-T | BHMT | c.589C>T | p.Pro197Ser | Missense | 5/8 | - |
4-54362515-C-T | LNX1 | c.1025G>A | p.Arg342His | Missense | 6/11 | - |
2-171822576-C-T | GORASP2 | c.1091C>T | p.Ser364Phe | Missense | 10/10 | - |
13-30804719-C-T | KATNAL1 | c.898G>A | p.Ala300Thr | Missense | 8/11 | - |
3-56763584-T-C | ARHGEF3 | c.1295A>G | p.Asn432Ser | Missense | 10/10 | - |
11-18528451-C-T | TSG101 | c.501G>A | p.Met167Ile | Missense | 6/10 | - |
10-97023630-T-C | PDLIM1 | c.524A>G | p.Asn175Ser | Missense | 4/7 | - |
4-186425698-G-A | PDLIM3 | c.836C>T | p.Thr279Met | Missense | 7/8 | - |
11-112104157-C-T | PTS | c.317C>T | p.Thr106Met | Missense | 6/6 | - |
3-105421032-C-G | CBLB | c.1865G>C | p.Ser622Thr | Missense | 12/19 | - |
14-65007898-G-T | HSPA2 | c.331G>T | p.Glu111* | Nonsense | 1/1 | - |
3-37067410-G-A | MLH1 | c.1321G>A | p.Ala441Thr | Missense | 12/19 | - |
6-24781753-T-C | GMNN | c.178T>C | p.Ser60Pro | Missense | 4/7 | - |
15-90902172-C-T | ZNF774 | c.194C>T | p.Pro65Leu | Missense | 3/4 | - |
16-11647492-T-C | LITAF | c.274A>G | p.Ile92Val | Missense | 3/4 | - |
7-139107009-A-C | LUC7L2 | c.1102A>C | p.Lys368Gln | Missense | 10/10 | - |
12-33049492-C-A | PKP2 | c.174G>T | p.Glu58Asp | Missense | 1/14 | - |
4-169100440-T-C | ANXA10 | c.701T>C | p.Phe234Ser | Missense | 9/12 | - |
3-105421032-C-T | CBLB | c.1865G>A | p.Ser622Asn | Missense | 12/19 | - |
5-137465138-C-T | NME5 | c.149G>A | p.Ser50Asn | Missense | 3/6 | - |
X-44091828-C-G | EFHC2 | c.1519G>C | p.Glu507Gln | Missense | 10/15 | - |
1-46685792-A-G | LURAP1 | c.620A>G | p.Gln207Arg | Missense | 2/2 | - |
15-74948095-C-T | EDC3 | c.799G>A | p.Val267Met | Missense | 4/7 | - |
7-144380023-A-G | TPK1 | c.164T>C | p.Ile55Thr | Missense | 4/9 | - |
5-137515500-C-T | KIF20A | c.131C>T | p.Ser44Phe | Missense | 2/19 | - |
12-122337698-C-T | PSMD9 | c.400C>T | p.Arg134Trp | Missense | 3/6 | - |
10-103113959-C-A | BTRC | c.22C>A | p.Leu8Met | Missense | 1/15 | - |
19-10678035-G-C | CDKN2D | c.200C>G | p.Pro67Arg | Missense | 3/3 | - |
10-103113959-C-T | BTRC | c.22C>T | p.Leu8Leu | Synonymous | 1/15 | - |
18-52605235-G-C | CCDC68 | c.298C>G | p.Leu100Val | Missense | 5/12 | - |
6-33541983-T-A | BAK1 | c.359A>T | p.Glu120Val | Missense | 5/6 | - |
20-45315769-T-C | TP53RK | c.385A>G | p.Thr129Ala | Missense | 2/2 | - |
3-37081682-C-T | MLH1 | c.1564C>T | p.Arg522Trp | Missense | 14/19 | - |
1-3807507-A-C | C1orf174 | c.244T>G | p.Ser82Ala | Missense | 3/4 | - |
3-37081682-C-G | MLH1 | c.1564C>G | p.Arg522Gly | Missense | 14/19 | - |
22-43010821-C-T | POLDIP3 | c.43G>A | p.Ala15Thr | Missense | 1/9 | - |
8-59488589-A-G | SDCBP | c.371A>G | p.Lys124Arg | Missense | 5/9 | - |
12-122337626-C-A | PSMD9 | c.328C>A | p.Arg110Arg | Synonymous | 3/6 | - |
7-5567921-A-C | ACTB | c.793T>G | p.Ser265Ala | Missense | 4/6 | - |
12-122337626-C-T | PSMD9 | c.328C>T | p.Arg110Trp | Missense | 3/6 | - |
19-17888954-A-G | FCHO1 | c.1268A>G | p.Glu423Gly | Missense | 19/29 | - |
14-23829369-G-T | EFS | c.140C>A | p.Ala47Asp | Missense | 2/6 | - |
1-54477843-C-T | LDLRAD1 | c.313G>A | p.Gly105Ser | Missense | 4/6 | - |
19-36530343-C-G | THAP8 | c.554G>C | p.Arg185Pro | Missense | 3/4 | - |
2-171822603-C-G | GORASP2 | c.1118C>G | p.Ser373Cys | Missense | 10/10 | - |
12-12871237-C-A | CDKN1B | c.464C>A | p.Pro155His | Missense | 1/3 | - |
21-44486463-G-C | CBS | c.341C>G | p.Ala114Gly | Missense | 5/17 | - |
21-44486463-G-A | CBS | c.341C>T | p.Ala114Val | Missense | 5/17 | - |
17-49233067-C-T | NME1 | c.52C>T | p.Arg18Trp | Missense | 2/5 | - |
11-6631029-C-T | ILK | c.931C>T | p.Leu311Leu | Synonymous | 10/13 | - |
11-6631029-C-A | ILK | c.931C>A | p.Leu311Ile | Missense | 10/13 | - |
11-47203983-G-A | PACSIN3 | c.182C>T | p.Ala61Val | Missense | 4/11 | - |
17-56429469-G-C | SUPT4H1 | c.28C>G | p.Leu10Val | Missense | 1/5 | - |
5-137454567-T-C | NME5 | c.495A>G | p.Ile165Met | Missense | 5/6 | - |
5-71739825-C-T | ZNF366 | c.1993G>A | p.Glu665Lys | Missense | 5/5 | - |
1-36605716-T-G | TRAPPC3 | c.94A>C | p.Lys32Gln | Missense | 2/5 | - |
2-56145171-T-G | EFEMP1 | c.146A>C | p.Asp49Ala | Missense | 5/12 | - |
6-136677899-G-A | MAP7 | c.1946C>T | p.Pro649Leu | Missense | 16/18 | - |
6-136677899-G-C | MAP7 | c.1946C>G | p.Pro649Arg | Missense | 16/18 | - |
10-103294560-A-G | BTRC | c.1240A>G | p.Thr414Ala | Missense | 10/15 | - |
10-43678796-C-T | CSGALNACT2 | c.1435C>T | p.Pro479Ser | Missense | 8/8 | - |
17-39137154-C-G | KRT40 | c.858G>C | p.Glu286Asp | Missense | 7/9 | - |
19-54662043-C-T | LENG1 | c.289G>A | p.Glu97Lys | Missense | 2/4 | - |
8-95272605-G-T | GEM | c.127C>A | p.Arg43Ser | Missense | 2/5 | - |
3-127398955-G-A | ABTB1 | c.1157G>A | p.Arg386His | Missense | 11/12 | - |
17-73126653-C-A | NT5C | c.416G>T | p.Arg139Leu | Missense | 4/4 | - |
19-36530343-C-T | THAP8 | c.554G>A | p.Arg185Gln | Missense | 3/4 | - |
11-77931456-C-G | GAB2 | c.1796G>C | p.Gly599Ala | Missense | 9/10 | - |
11-65714925-C-T | TSGA10IP | c.629C>T | p.Ala210Val | Missense | 3/8 | - |
17-56429469-G-A | SUPT4H1 | c.28C>T | p.Leu10Leu | Synonymous | 1/5 | - |
5-71739825-C-G | ZNF366 | c.1993G>C | p.Glu665Gln | Missense | 5/5 | - |
17-46262171-C-T | SKAP1 | c.481G>A | p.Gly161Ser | Missense | 7/13 | - |
6-122733526-A-G | HSF2 | c.102A>G | p.Gln34Gln | Synonymous | 2/13 | - |
18-32920361-G-A | ZNF24 | c.254C>T | p.Thr85Met | Missense | 2/4 | - |
16-69875981-G-A | WWP2 | c.533G>A | p.Arg178Gln | Missense | 7/25 | - |
17-56164541-G-C | DYNLL2 | c.90G>C | p.Glu30Asp | Missense | 2/3 | - |
11-103907809-C-T | DDI1 | c.259C>T | p.Arg87Cys | Missense | 1/1 | - |
9-129595239-C-G | ZBTB43 | c.451C>G | p.Leu151Val | Missense | 2/2 | - |
19-36530428-G-A | THAP8 | c.469C>T | p.Pro157Ser | Missense | 3/4 | - |
11-65715210-G-C | TSGA10IP | c.914G>C | p.Arg305Pro | Missense | 3/8 | - |
6-130415458-C-T | L3MBTL3 | c.1682C>T | p.Pro561Leu | Missense | 18/23 | - |
3-119222842-C-G | TIMMDC1 | c.491C>G | p.Ala164Gly | Missense | 4/7 | - |
7-143080060-A-G | ZYX | c.668A>G | p.His223Arg | Missense | 5/10 | - |
8-102555474-A-G | GRHL2 | c.26A>G | p.Lys9Arg | Missense | 2/16 | - |
8-102555474-A-T | GRHL2 | c.26A>T | p.Lys9Ile | Missense | 2/16 | - |
X-48054735-C-A | SSX5 | c.60G>T | p.Lys20Asn | Missense | 2/9 | - |
X-48054735-C-G | SSX5 | c.60G>C | p.Lys20Asn | Missense | 2/9 | - |
12-12871765-C-T | CDKN1B | c.482C>T | p.Ser161Phe | Missense | 2/3 | - |
2-181922523-T-A | UBE2E3 | c.349T>A | p.Ser117Thr | Missense | 4/6 | - |
3-37053550-G-T | MLH1 | c.637G>T | p.Val213Leu | Missense | 8/19 | - |
19-35175877-G-T | ZNF302 | c.935G>T | p.Arg312Leu | Missense | 5/5 | - |
1-28657228-A-G | MED18 | c.55A>G | p.Met19Val | Missense | 2/3 | - |
19-48342796-G-A | CRX | c.472G>A | p.Ala158Thr | Missense | 4/4 | - |
3-32586499-A-G | DYNC1LI1 | c.437T>C | p.Val146Ala | Missense | 4/13 | - |
14-75470349-C-T | EIF2B2 | c.380C>T | p.Ala127Val | Missense | 3/8 | - |
6-24515423-G-T | ALDH5A1 | c.755G>T | p.Gly252Val | Missense | 5/10 | - |
11-499944-G-A | RNH1 | c.328C>T | p.Arg110Cys | Missense | 4/10 | - |
14-75470349-C-G | EIF2B2 | c.380C>G | p.Ala127Gly | Missense | 3/8 | - |
6-33543117-G-A | BAK1 | c.308C>T | p.Thr103Met | Missense | 4/6 | - |
6-1961185-C-T | GMDS | c.271G>A | p.Ala91Thr | Missense | 5/11 | - |
18-44560732-C-G | ELOA2 | c.904G>C | p.Asp302His | Missense | 1/1 | - |
1-160254899-C-T | PEX19 | c.16G>A | p.Glu6Lys | Missense | 1/8 | - |
2-74074603-G-T | STAMBP | c.465G>T | p.Gln155His | Missense | 6/11 | - |
11-67414492-C-T | ACY3 | c.23G>A | p.Arg8Gln | Missense | 3/8 | - |
11-66109687-T-C | BRMS1 | c.19A>G | p.Ser7Gly | Missense | 2/10 | - |
12-119866533-A-G | CCDC60 | c.136A>G | p.Ile46Val | Missense | 2/14 | - |
X-38163917-C-T | RPGR | c.905G>A | p.Cys302Tyr | Missense | 8/19 | - |
11-64787966-C-T | ARL2 | c.415C>T | p.Arg139Cys | Missense | 4/5 | - |
6-97058553-A-G | FHL5 | c.610A>G | p.Arg204Gly | Missense | 6/7 | - |
19-15794415-C-T | CYP4F12 | c.760C>T | p.Arg254Trp | Missense | 7/13 | - |
19-15794415-C-A | CYP4F12 | c.760C>A | p.Arg254Arg | Synonymous | 7/13 | - |
21-44474003-C-T | CBS | c.1643G>A | p.Arg548Gln | Missense | 17/17 | - |
19-13054563-G-C | CALR | c.1090G>C | p.Glu364Gln | Missense | 9/9 | - |
4-122078317-T-C | TNIP3 | c.295A>G | p.Lys99Glu | Missense | 4/11 | - |
16-71604689-C-T | TAT | c.805G>A | p.Asp269Asn | Missense | 8/12 | - |
15-83428192-C-T | FSD2 | c.2158G>A | p.Glu720Lys | Missense | 13/13 | - |
10-91065949-A-C | IFIT2 | c.236A>C | p.Glu79Ala | Missense | 2/2 | - |
10-91065949-A-G | IFIT2 | c.236A>G | p.Glu79Gly | Missense | 2/2 | - |
6-33423395-C-T | ZBTB9 | c.518C>T | p.Ser173Phe | Missense | 2/2 | - |
10-103310574-C-A | BTRC | c.1775C>A | p.Pro592His | Missense | 14/15 | - |
10-103310574-C-G | BTRC | c.1775C>G | p.Pro592Arg | Missense | 14/15 | - |
3-52021205-T-C | ACY1 | c.700T>C | p.Trp234Arg | Missense | 10/15 | - |
7-143086010-C-T | ZYX | c.1465C>T | p.Arg489Trp | Missense | 8/10 | - |
21-16339360-T-A | NRIP1 | c.1154A>T | p.Lys385Ile | Missense | 4/4 | - |
12-6435693-C-T | PLEKHG6 | c.1624C>T | p.Pro542Ser | Missense | 14/16 | - |
9-116029692-C-G | CDC26 | c.109G>C | p.Glu37Gln | Missense | 4/4 | - |
17-26900817-T-C | ALDOC | c.935A>G | p.Asn312Ser | Missense | 8/9 | - |
1-152785170-G-A | LCE1B | c.248G>A | p.Arg83His | Missense | 1/1 | - |
10-103310574-C-T | BTRC | c.1775C>T | p.Pro592Leu | Missense | 14/15 | - |
12-118463608-T-G | RFC5 | c.638T>G | p.Met213Arg | Missense | 7/11 | - |
12-53227957-G-A | KRT79 | c.88C>T | p.Arg30Cys | Missense | 1/9 | - |
5-71740017-C-T | ZNF366 | c.1801G>A | p.Val601Met | Missense | 5/5 | - |
19-49318380-G-T | HSD17B14 | c.388C>A | p.Arg130Arg | Synonymous | 6/9 | - |
19-49318380-G-A | HSD17B14 | c.388C>T | p.Arg130Trp | Missense | 6/9 | - |
2-198641827-C-T | BOLL | c.232G>A | p.Val78Ile | Missense | 4/11 | - |
20-1293046-G-C | SDCBP2 | c.667C>G | p.Arg223Gly | Missense | 7/9 | - |
3-10183758-T-C | VHL | c.227T>C | p.Phe76Ser | Missense | 1/3 | - |
3-10183758-T-A | VHL | c.227T>A | p.Phe76Tyr | Missense | 1/3 | - |
3-10183758-T-G | VHL | c.227T>G | p.Phe76Cys | Missense | 1/3 | - |
19-48789566-G-A | ZNF114 | c.685G>A | p.Ala229Thr | Missense | 6/6 | - |
13-21732175-G-T | SKA3 | c.1005C>A | p.Asp335Glu | Missense | 7/9 | - |
16-4827944-G-C | SEPT12 | c.931C>G | p.Arg311Gly | Missense | 10/10 | - |
19-12691634-C-G | ZNF490 | c.1255G>C | p.Glu419Gln | Missense | 5/5 | - |
19-12691634-C-T | ZNF490 | c.1255G>A | p.Glu419Lys | Missense | 5/5 | - |
17-39521176-T-C | KRT33B | c.952A>G | p.Ile318Val | Missense | 6/7 | - |
2-70082038-A-G | GMCL1 | c.1018A>G | p.Ile340Val | Missense | 9/14 | - |
11-47178652-C-T | C11orf49 | c.530C>T | p.Ser177Leu | Missense | 6/9 | - |
2-25457176-G-T | DNMT3A | c.2711C>A | p.Pro904Gln | Missense | 23/23 | - |
16-4829726-A-T | SEPT12 | c.788T>A | p.Val263Asp | Missense | 8/10 | - |
19-2321758-C-G | LSM7 | c.233G>C | p.Gly78Ala | Missense | 4/4 | - |
9-97329625-C-T | FBP2 | c.632G>A | p.Ser211Asn | Missense | 5/7 | - |
17-37901569-C-T | GRB7 | c.1085C>T | p.Pro362Leu | Missense | 10/15 | - |
17-41955336-G-A | MPP2 | c.1498C>T | p.Arg500Trp | Missense | 13/13 | - |
12-44161949-G-A | IRAK4 | c.35G>A | p.Arg12His | Missense | 3/13 | - |
17-8644854-C-T | CCDC42 | c.430G>A | p.Ala144Thr | Missense | 4/7 | - |
17-8644854-C-A | CCDC42 | c.430G>T | p.Ala144Ser | Missense | 4/7 | - |
8-42226805-C-G | POLB | c.725C>G | p.Pro242Arg | Missense | 12/14 | - |
16-418597-G-C | MRPL28 | c.480C>G | p.Asp160Glu | Missense | 4/6 | - |
1-909238-G-C | PLEKHN1 | c.1460G>C | p.Arg487Pro | Missense | 14/16 | - |
12-56601490-C-T | RNF41 | c.542G>A | p.Arg181His | Missense | 6/7 | - |
12-53225239-C-A | KRT79 | c.649G>T | p.Asp217Tyr | Missense | 2/9 | - |
15-74925132-C-T | EDC3 | c.1348G>A | p.Glu450Lys | Missense | 7/7 | - |
1-20931468-C-T | CDA | c.202C>T | p.Arg68Trp | Missense | 2/4 | - |
19-45150614-G-A | PVR | c.199G>A | p.Ala67Thr | Missense | 2/8 | - |
14-65009287-C-T | HSPA2 | c.1720C>T | p.Leu574Phe | Missense | 1/1 | - |
14-65009287-C-G | HSPA2 | c.1720C>G | p.Leu574Val | Missense | 1/1 | - |
2-25457176-G-C | DNMT3A | c.2711C>G | p.Pro904Arg | Missense | 23/23 | - |
2-25457176-G-A | DNMT3A | c.2711C>T | p.Pro904Leu | Missense | 23/23 | - |
1-24122673-C-T | GALE | c.956G>A | p.Gly319Glu | Missense | 11/12 | - |
1-154960891-G-A | FLAD1 | c.683G>A | p.Arg228His | Missense | 2/7 | - |
9-139814840-A-C | TRAF2 | c.833A>C | p.Lys278Thr | Missense | 8/11 | - |
1-94037330-G-A | BCAR3 | c.1871C>T | p.Ala624Val | Missense | 11/14 | - |
11-34909969-C-A | APIP | c.332G>T | p.Gly111Val | Missense | 5/7 | - |
11-34909969-C-G | APIP | c.332G>C | p.Gly111Ala | Missense | 5/7 | - |
15-45361161-G-A | SORD | c.697G>A | p.Ala233Thr | Missense | 7/9 | - |
6-42930566-A-G | GNMT | c.401A>G | p.Asp134Gly | Missense | 3/6 | - |
6-135306521-T-C | HBS1L | c.1324A>G | p.Ile442Val | Missense | 11/17 | - |
21-44488720-T-A | CBS | c.215A>T | p.Lys72Ile | Missense | 4/17 | - |
22-43278297-A-T | PACSIN2 | c.799T>A | p.Tyr267Asn | Missense | 7/11 | - |
3-52021009-C-T | ACY1 | c.589C>T | p.Arg197Trp | Missense | 9/15 | - |
7-144462990-C-T | TPK1 | c.98G>A | p.Arg33His | Missense | 3/9 | - |
16-58230665-T-G | CSNK2A2 | c.188A>C | p.Asn63Thr | Missense | 2/12 | - |
19-40199901-T-C | LGALS14 | c.368T>C | p.Met123Thr | Missense | 4/4 | - |
2-95542433-C-T | TEKT4 | c.1227C>T | p.Asn409Asn | Synonymous | 6/6 | - |
22-29141917-A-G | HSCB | c.489A>G | p.Ile163Met | Missense | 4/6 | - |
2-95542433-C-G | TEKT4 | c.1227C>G | p.Asn409Lys | Missense | 6/6 | - |
2-43015704-T-C | HAAO | c.124A>G | p.Thr42Ala | Missense | 2/10 | - |
6-36651971-C-T | CDKN1A | c.93C>T | p.Ser31Ser | Synonymous | 3/4 | - |
6-36651971-C-A | CDKN1A | c.93C>A | p.Ser31Arg | Missense | 3/4 | - |
2-43015704-T-A | HAAO | c.124A>T | p.Thr42Ser | Missense | 2/10 | - |
9-139262205-C-A | CARD9 | c.1153G>T | p.Val385Leu | Missense | 8/13 | - |
9-139262205-C-G | CARD9 | c.1153G>C | p.Val385Leu | Missense | 8/13 | - |
9-139262205-C-T | CARD9 | c.1153G>A | p.Val385Met | Missense | 8/13 | - |
19-375775-G-C | THEG | c.196C>G | p.Pro66Ala | Missense | 1/8 | - |
19-375775-G-A | THEG | c.196C>T | p.Pro66Ser | Missense | 1/8 | - |
16-4833525-C-T | SEPT12 | c.664G>A | p.Val222Ile | Missense | 7/10 | - |
18-48573524-A-C | SMAD4 | c.108A>C | p.Ala36Ala | Synonymous | 2/12 | - |
18-48573524-A-T | SMAD4 | c.108A>T | p.Ala36Ala | Synonymous | 2/12 | - |
6-33541836-C-T | BAK1 | c.506G>A | p.Arg169Gln | Missense | 5/6 | - |
15-91496242-C-T | UNC45A | c.2387C>T | p.Thr796Met | Missense | 18/20 | - |
6-28219661-G-A | ZKSCAN4 | c.98C>T | p.Ser33Phe | Missense | 1/5 | - |
14-105643046-C-T | NUDT14 | c.253G>A | p.Gly85Arg | Missense | 4/5 | - |
6-28219661-G-T | ZKSCAN4 | c.98C>A | p.Ser33Tyr | Missense | 1/5 | - |
12-105600846-T-C | APPL2 | c.614A>G | p.His205Arg | Missense | 8/21 | - |
6-116325142-C-T | FRK | c.364G>A | p.Gly122Arg | Missense | 2/8 | - |
20-1143797-T-C | PSMF1 | c.575T>C | p.Val192Ala | Missense | 6/8 | - |
6-62390920-G-A | KHDRBS2 | c.998C>T | p.Pro333Leu | Missense | 9/9 | - |
17-28618342-G-T | BLMH | c.198C>A | p.Asn66Lys | Missense | 2/12 | - |
4-114378519-G-A | CAMK2D | c.1405C>T | p.Arg469Cys | Missense | 17/19 | - |
7-93540153-G-C | GNGT1 | c.148G>C | p.Glu50Gln | Missense | 3/3 | - |
7-93540153-G-A | GNGT1 | c.148G>A | p.Glu50Lys | Missense | 3/3 | - |
3-184910738-C-T | EHHADH | c.1160G>A | p.Arg387Gln | Missense | 7/7 | - |
20-9547018-C-T | PAK5 | c.1004G>A | p.Arg335Gln | Missense | 6/11 | - |
3-42730389-G-A | KLHL40 | c.1450G>A | p.Asp484Asn | Missense | 4/6 | - |
7-144380018-C-T | TPK1 | c.169G>A | p.Glu57Lys | Missense | 4/9 | - |
17-39135089-G-A | KRT40 | c.1163C>T | p.Thr388Met | Missense | 8/9 | - |
10-17747017-T-C | STAM | c.1049T>C | p.Ile350Thr | Missense | 11/14 | - |
4-99397428-G-A | TSPAN5 | c.653C>T | p.Thr218Met | Missense | 7/8 | - |
11-64807235-C-A | SNX15 | c.1000C>A | p.Arg334Ser | Missense | 8/8 | - |
4-166234488-G-A | KLHL2 | c.1450G>A | p.Ala484Thr | Missense | 12/15 | - |
6-49663567-A-G | CRISP2 | c.586T>C | p.Cys196Arg | Missense | 9/10 | - |
6-28269663-A-G | PGBD1 | c.2032A>G | p.Ile678Val | Missense | 7/7 | - |
12-53227957-G-C | KRT79 | c.88C>G | p.Arg30Gly | Missense | 1/9 | - |
8-17094739-T-C | CNOT7 | c.455A>G | p.Lys152Arg | Missense | 4/7 | - |
3-53326592-G-C | DCP1A | c.890C>G | p.Ala297Gly | Missense | 7/10 | - |
7-75189180-C-T | HIP1 | c.1231G>A | p.Glu411Lys | Missense | 14/31 | - |
1-54479986-G-A | LDLRAD1 | c.125C>T | p.Ser42Phe | Missense | 3/6 | - |
17-28618342-G-A | BLMH | c.198C>T | p.Asn66Asn | Synonymous | 2/12 | - |
11-61732960-C-T | FTH1 | c.142G>A | p.Ala48Thr | Missense | 2/4 | - |
19-48543883-C-T | CABP5 | c.217G>A | p.Gly73Ser | Missense | 3/6 | - |
19-48543883-C-G | CABP5 | c.217G>C | p.Gly73Arg | Missense | 3/6 | - |
1-24124187-T-C | GALE | c.526A>G | p.Lys176Glu | Missense | 6/12 | - |
4-145035851-C-T | GYPA | c.427G>A | p.Glu143Lys | Missense | 6/7 | - |
2-28050468-A-G | RBKS | c.761T>C | p.Ile254Thr | Missense | 7/8 | - |
1-155296503-T-A | RUSC1 | c.1994T>A | p.Phe665Tyr | Missense | 8/10 | - |
1-155296503-T-C | RUSC1 | c.1994T>C | p.Phe665Ser | Missense | 8/10 | - |
9-140108465-G-A | NDOR1 | c.457G>A | p.Val153Ile | Missense | 5/14 | - |
15-41602017-G-A | OIP5 | c.625C>T | p.Arg209Cys | Missense | 5/5 | - |
1-11115948-C-T | SRM | c.655G>A | p.Glu219Lys | Missense | 6/8 | - |
4-186425698-G-T | PDLIM3 | c.836C>A | p.Thr279Lys | Missense | 7/8 | - |
11-120008468-G-C | TRIM29 | c.272C>G | p.Ser91Cys | Missense | 1/9 | - |
13-37582311-A-T | EXOSC8 | c.605A>T | p.Asp202Val | Missense | 9/11 | - |
10-103310600-A-G | BTRC | c.1801A>G | p.Thr601Ala | Missense | 14/15 | - |
19-58773189-A-T | ZNF544 | c.1217A>T | p.Lys406Met | Missense | 7/7 | - |
14-20784560-A-T | CCNB1IP1 | c.123T>A | p.Phe41Leu | Missense | 5/7 | - |
15-57565248-A-G | TCF12 | c.1694A>G | p.Asp565Gly | Missense | 18/20 | - |
1-155282155-G-A | FDPS | c.449G>A | p.Arg150Gln | Missense | 4/11 | - |
1-94032937-T-C | BCAR3 | c.2198A>G | p.Asn733Ser | Missense | 13/14 | - |
15-57565248-A-T | TCF12 | c.1694A>T | p.Asp565Val | Missense | 18/20 | - |
7-25194753-C-T | C7orf31 | c.472G>A | p.Ala158Thr | Missense | 6/10 | - |
17-28576076-T-C | BLMH | c.1327A>G | p.Ile443Val | Missense | 12/12 | - |
11-77931456-C-T | GAB2 | c.1796G>A | p.Gly599Asp | Missense | 9/10 | - |
20-60882864-G-A | ADRM1 | c.719G>A | p.Gly240Glu | Missense | 6/9 | - |
3-119242484-C-T | TIMMDC1 | c.739C>T | p.Pro247Ser | Missense | 7/7 | - |
13-37580280-T-C | EXOSC8 | c.373T>C | p.Cys125Arg | Missense | 7/11 | - |
6-143784092-A-G | PEX3 | c.245A>G | p.Gln82Arg | Missense | 3/12 | - |
7-65546812-G-A | ASL | c.35G>A | p.Arg12Gln | Missense | 3/17 | - |
11-65715005-C-T | TSGA10IP | c.709C>T | p.Arg237Cys | Missense | 3/8 | - |
17-42429903-C-G | GRN | c.1608C>G | p.Asp536Glu | Missense | 12/13 | - |
19-374338-A-C | THEG | c.392T>G | p.Leu131Arg | Missense | 2/8 | - |
3-37092115-G-C | MLH1 | c.2242G>C | p.Asp748His | Missense | 19/19 | - |
3-37092115-G-A | MLH1 | c.2242G>A | p.Asp748Asn | Missense | 19/19 | - |
11-65715005-C-A | TSGA10IP | c.709C>A | p.Arg237Ser | Missense | 3/8 | - |
3-25792697-C-T | NGLY1 | c.550G>A | p.Val184Ile | Missense | 4/12 | - |
11-73122521-G-T | FAM168A | c.338C>A | p.Pro113His | Missense | 5/8 | - |
3-25792697-C-A | NGLY1 | c.550G>T | p.Val184Phe | Missense | 4/12 | - |
8-27680615-T-A | PBK | c.260A>T | p.Lys87Met | Missense | 4/8 | - |
20-1293046-G-A | SDCBP2 | c.667C>T | p.Arg223Cys | Missense | 7/9 | - |
19-19681089-G-A | PBX4 | c.461C>T | p.Thr154Met | Missense | 4/8 | - |
19-41263315-T-C | SNRPA | c.152T>C | p.Met51Thr | Missense | 2/6 | - |
10-135053710-C-A | VENTX | c.677C>A | p.Ala226Glu | Missense | 3/3 | - |
7-100883176-C-T | FIS1 | c.370G>A | p.Val124Met | Missense | 5/5 | - |
2-39008699-G-T | GEMIN6 | c.169G>T | p.Val57Leu | Missense | 3/3 | - |
2-39008699-G-C | GEMIN6 | c.169G>C | p.Val57Leu | Missense | 3/3 | - |
14-20781699-T-C | CCNB1IP1 | c.559A>G | p.Thr187Ala | Missense | 6/7 | - |
11-43940595-A-G | ALKBH3 | c.677A>G | p.Asn226Ser | Missense | 9/10 | - |
2-198001339-G-A | ANKRD44 | c.238C>T | p.Arg80Trp | Missense | 4/10 | - |
18-23637658-C-T | SS18 | c.280G>A | p.Gly94Ser | Missense | 4/11 | - |
2-158978094-G-A | UPP2 | c.628G>A | p.Val210Ile | Missense | 5/7 | - |
11-61669946-G-A | RAB3IL1 | c.967C>T | p.His323Tyr | Missense | 8/10 | - |
17-40277835-T-C | RAB5C | c.617A>G | p.Asn206Ser | Missense | 6/6 | - |
17-40277835-T-G | RAB5C | c.617A>C | p.Asn206Thr | Missense | 6/6 | - |
1-114438951-A-G | AP4B1 | c.1439T>C | p.Leu480Ser | Missense | 9/11 | - |
22-42912136-G-T | RRP7A | c.223C>A | p.Leu75Met | Missense | 3/7 | - |
11-64807235-C-G | SNX15 | c.1000C>G | p.Arg334Gly | Missense | 8/8 | - |
5-132334397-A-G | ZCCHC10 | c.391T>C | p.Ser131Pro | Missense | 4/4 | - |
1-160250012-G-C | PEX19 | c.619C>G | p.Arg207Gly | Missense | 6/8 | - |
1-160250012-G-A | PEX19 | c.619C>T | p.Arg207Trp | Missense | 6/8 | - |
2-242283278-C-G | SEPT2 | c.808C>G | p.His270Asp | Missense | 9/13 | - |
2-198001339-G-T | ANKRD44 | c.238C>A | p.Arg80Arg | Synonymous | 4/10 | - |
14-68123302-C-T | VTI1B | c.371G>A | p.Arg124Gln | Missense | 4/6 | - |
2-198001339-G-C | ANKRD44 | c.238C>G | p.Arg80Gly | Missense | 4/10 | - |
11-32417814-C-A | WT1 | c.1202G>T | - | missense_variant | 6/9 | - |
19-41893502-G-A | EXOSC5 | c.532C>T | p.Arg178Trp | Missense | 5/6 | - |
22-18650682-C-T | USP18 | c.506C>T | p.Thr169Met | Missense | 6/11 | - |
X-38176636-C-T | RPGR | c.552G>A | p.Gln184Gln | Synonymous | 6/19 | - |
1-154938662-T-C | SHC1 | c.1228A>G | p.Met410Val | Missense | 9/12 | - |
X-48972112-A-G | GPKOW | c.1178T>C | p.Val393Ala | Missense | 9/11 | - |
16-75602007-A-G | GABARAPL2 | c.163A>G | p.Ile55Val | Missense | 3/4 | - |
1-32660776-C-G | TXLNA | c.1621C>G | p.Pro541Ala | Missense | 11/11 | - |
1-32660776-C-T | TXLNA | c.1621C>T | p.Pro541Ser | Missense | 11/11 | - |
1-46521559-A-T | PIK3R3 | c.849T>A | p.Asn283Lys | Missense | 7/10 | - |
3-126071170-G-A | KLF15 | c.596C>T | p.Ala199Val | Missense | 2/3 | - |
20-32881908-T-C | AHCY | c.274A>G | p.Ile92Val | Missense | 3/10 | - |
1-29475394-C-G | SRSF4 | c.1013G>C | p.Gly338Ala | Missense | 6/6 | - |
18-44560123-C-T | ELOA2 | c.1513G>A | p.Gly505Arg | Missense | 1/1 | - |
8-6783420-G-C | DEFA6 | c.138C>G | p.Asp46Glu | Missense | 1/2 | - |
1-29475394-C-T | SRSF4 | c.1013G>A | p.Gly338Glu | Missense | 6/6 | - |
12-12871138-C-T | CDKN1B | c.365C>T | p.Pro122Leu | Missense | 1/3 | - |
3-37081687-G-T | MLH1 | c.1569G>T | p.Glu523Asp | Missense | 14/19 | - |
8-19221664-G-T | SH2D4A | c.788G>T | p.Gly263Val | Missense | 7/10 | - |
8-19221664-G-C | SH2D4A | c.788G>C | p.Gly263Ala | Missense | 7/10 | - |
16-4833938-C-T | SEPT12 | c.506G>A | p.Gly169Glu | Missense | 5/10 | - |
3-33877626-G-A | PDCD6IP | c.940G>A | p.Ala314Thr | Missense | 8/18 | - |
17-28598294-C-A | BLMH | c.1141G>T | p.Glu381* | Nonsense | 10/12 | - |
1-160254854-G-C | PEX19 | c.61C>G | p.Leu21Val | Missense | 1/8 | - |
1-160253424-G-T | PEX19 | c.76C>A | p.Leu26Ile | Missense | 2/8 | - |
19-54653359-T-G | CNOT3 | c.1471T>G | p.Ser491Ala | Missense | 13/18 | - |
1-183536089-A-G | NCF2 | c.890T>C | p.Val297Ala | Missense | 9/15 | - |
20-60881736-A-G | ADRM1 | c.370A>G | p.Met124Val | Missense | 4/9 | - |
22-50989793-G-A | SYCE3 | c.148C>T | p.Arg50Cys | Missense | 3/3 | - |
16-69875981-G-T | WWP2 | c.533G>T | p.Arg178Leu | Missense | 7/25 | - |
13-52603448-A-G | ALG11 | c.*722A>G | - | 3-UTRSNV | 4/4 | - |
19-56160797-G-A | CCDC106 | c.160G>A | p.Ala54Thr | Missense | 4/6 | - |
7-152346092-C-T | XRCC2 | c.478G>A | p.Val160Ile | Missense | 3/3 | - |
11-46342283-T-G | CREB3L1 | c.1547T>G | p.Ile516Ser | Missense | 12/12 | - |
7-92244486-T-A | CDK6 | c.949A>T | p.Ser317Cys | Missense | 8/8 | - |
6-28194963-A-G | ZSCAN9 | c.101A>G | p.Gln34Arg | Missense | 2/4 | - |
21-44293744-C-G | WDR4 | c.213G>C | p.Lys71Asn | Missense | 3/11 | - |
10-91162516-G-A | IFIT1 | c.484G>A | p.Ala162Thr | Missense | 2/2 | - |
10-118084551-A-G | CCDC172 | c.28A>G | p.Ile10Val | Missense | 2/9 | - |
6-33543207-T-A | BAK1 | c.218A>T | p.Gln73Leu | Missense | 4/6 | - |
20-30309880-G-A | BCL2L1 | c.142C>T | p.Pro48Ser | Missense | 2/3 | - |
X-149013408-G-T | MAGEA8 | c.362G>T | p.Arg121Leu | Missense | 3/3 | - |
20-1293247-C-T | SDCBP2 | c.544G>A | p.Val182Met | Missense | 6/9 | - |
11-69456169-G-T | CCND1 | c.88G>T | p.Ala30Ser | Missense | 1/5 | - |
11-69456169-G-A | CCND1 | c.88G>A | p.Ala30Thr | Missense | 1/5 | - |
11-5248233-C-T | HBB | c.19G>A | p.Glu7Lys | Missense | 1/3 | - |
12-15073952-C-G | ERP27 | c.364G>C | p.Glu122Gln | Missense | 4/7 | - |
4-71115060-G-A | CSN3 | c.433G>A | p.Ala145Thr | Missense | 4/5 | - |
6-122743891-G-A | HSF2 | c.859G>A | p.Val287Ile | Missense | 9/13 | - |
6-42930505-G-A | GNMT | c.340G>A | p.Glu114Lys | Missense | 3/6 | - |
6-42930505-G-C | GNMT | c.340G>C | p.Glu114Gln | Missense | 3/6 | - |
19-7747293-T-G | TRAPPC5 | c.154T>G | p.Ser52Ala | Missense | 2/2 | - |
2-48063051-T-C | FBXO11 | c.425A>G | p.Tyr142Cys | Missense | 5/23 | - |
17-46929908-T-C | CALCOCO2 | c.743T>C | p.Val248Ala | Missense | 8/13 | - |
4-77045812-C-T | NUP54 | c.1010G>A | p.Arg337Lys | Missense | 8/11 | - |
X-109459826-T-C | AMMECR1 | c.508A>G | p.Arg170Gly | Missense | 2/5 | - |
9-135703450-G-A | AK8 | c.506C>T | p.Thr169Met | Missense | 7/13 | - |
4-114381380-C-T | CAMK2D | c.1127G>A | p.Gly376Asp | Missense | 16/19 | - |
22-38935367-T-C | DMC1 | c.545A>G | p.Asp182Gly | Missense | 9/14 | - |
12-21620419-G-A | PYROXD1 | c.1121G>A | p.Arg374Lys | Missense | 11/12 | - |
2-175742774-C-G | CHN1 | c.343G>C | p.Asp115His | Missense | 6/13 | - |
2-175742774-C-T | CHN1 | c.343G>A | p.Asp115Asn | Missense | 6/13 | - |
22-39176990-G-A | DNAL4 | c.94C>T | p.Arg32Cys | Missense | 3/4 | - |
22-39176990-G-C | DNAL4 | c.94C>G | p.Arg32Gly | Missense | 3/4 | - |
19-48789176-C-A | ZNF114 | c.295C>A | p.His99Asn | Missense | 6/6 | - |
11-6630580-G-T | ILK | c.669G>T | p.Lys223Asn | Missense | 8/13 | - |
16-71610194-G-A | TAT | c.125C>T | p.Ser42Phe | Missense | 2/12 | - |
12-56602003-G-A | RNF41 | c.442C>T | p.Arg148Cys | Missense | 5/7 | - |
22-26902371-T-G | TFIP11 | c.418A>C | p.Met140Leu | Missense | 7/16 | - |
17-46929928-A-G | CALCOCO2 | c.763A>G | p.Thr255Ala | Missense | 8/13 | - |
1-51439640-A-G | CDKN2C | c.205A>G | p.Thr69Ala | Missense | 3/3 | - |
12-15073952-C-T | ERP27 | c.364G>A | p.Glu122Lys | Missense | 4/7 | - |
22-27024258-C-T | CRYBA4 | c.307C>T | p.Arg103Cys | Missense | 5/6 | - |
2-95540570-C-T | TEKT4 | c.763C>T | p.Arg255Cys | Missense | 4/6 | - |
2-95540570-C-A | TEKT4 | c.763C>A | p.Arg255Ser | Missense | 4/6 | - |
14-55655692-C-T | DLGAP5 | c.206G>A | p.Gly69Glu | Missense | 2/19 | - |
18-2616457-G-C | NDC80 | c.1813G>C | p.Ala605Pro | Missense | 17/17 | - |
17-39140417-T-C | KRT40 | c.109A>G | p.Thr37Ala | Missense | 3/9 | - |
20-62595882-C-T | ZNF512B | c.1222G>A | p.Ala408Thr | Missense | 6/17 | - |
10-91163390-T-G | IFIT1 | c.1358T>G | p.Met453Arg | Missense | 2/2 | - |
10-91163390-T-C | IFIT1 | c.1358T>C | p.Met453Thr | Missense | 2/2 | - |
3-58487265-A-G | KCTD6 | c.620A>G | p.Asn207Ser | Missense | 2/2 | - |
4-1206045-C-T | CTBP1 | c.1306G>A | p.Ala436Thr | Missense | 9/9 | - |
X-37700332-C-T | DYNLT3 | c.223G>A | p.Ala75Thr | Missense | 4/5 | - |
13-28143229-A-G | LNX2 | c.592T>C | p.Ser198Pro | Missense | 3/10 | - |
21-46086758-C-T | TSPEAR | c.82+44590G>A | - | IntronicSNV | - | 1/11 |
16-3339435-G-A | ZNF263 | c.929G>A | p.Cys310Tyr | Missense | 6/6 | - |
19-33702432-C-G | SLC7A10 | c.800G>C | p.Arg267Pro | Missense | 6/11 | - |
16-3339435-G-T | ZNF263 | c.929G>T | p.Cys310Phe | Missense | 6/6 | - |
19-34942926-G-T | UBA2 | c.912G>T | p.Gln304His | Missense | 10/17 | - |
3-17349498-T-C | TBC1D5 | c.1124A>G | p.Tyr375Cys | Missense | 14/22 | - |
1-154938662-T-A | SHC1 | c.1228A>T | p.Met410Leu | Missense | 9/12 | - |
9-35733402-A-G | CREB3 | c.355A>G | p.Arg119Gly | Missense | 4/9 | - |
17-79993919-C-A | DCXR | c.646G>T | p.Ala216Ser | Missense | 8/8 | - |
19-371213-T-C | THEG | c.745A>G | p.Met249Val | Missense | 6/8 | - |
2-163213305-A-G | GCA | c.344A>G | p.Lys115Arg | Missense | 5/8 | - |
8-144643921-G-C | GSDMD | c.746G>C | p.Arg249Pro | Missense | 7/11 | - |
8-144643921-G-A | GSDMD | c.746G>A | p.Arg249His | Missense | 7/11 | - |
9-123605169-C-A | PSMD5 | c.19G>T | p.Ala7Ser | Missense | 1/10 | - |
19-48790091-A-G | ZNF114 | c.1210A>G | p.Lys404Glu | Missense | 6/6 | - |
19-49339623-C-T | HSD17B14 | c.46G>A | p.Gly16Arg | Missense | 1/9 | - |
17-42979790-C-A | CCDC103 | c.334C>A | p.His112Asn | Missense | 4/4 | - |
12-53225406-C-T | KRT79 | c.482G>A | p.Arg161Gln | Missense | 2/9 | - |
1-110280921-C-T | GSTM3 | c.257G>A | p.Arg86His | Missense | 5/9 | - |
19-35613689-G-A | FXYD3 | c.118G>A | p.Gly40Ser | Missense | 7/9 | - |
9-110084388-C-G | RAD23B | c.806C>G | p.Thr269Arg | Missense | 7/10 | - |
6-31632134-C-T | GPANK1 | c.122G>A | p.Arg41Gln | Missense | 2/3 | - |
6-31632134-C-A | GPANK1 | c.122G>T | p.Arg41Leu | Missense | 2/3 | - |
7-91623968-G-A | AKAP9 | c.610G>A | p.Asp204Asn | Missense | 6/50 | - |
17-47010577-T-C | SNF8 | c.554A>G | p.Gln185Arg | Missense | 6/8 | - |
3-184910042-A-G | EHHADH | c.1856T>C | p.Leu619Ser | Missense | 7/7 | - |
11-61732299-T-C | FTH1 | c.452A>G | p.Asp151Gly | Missense | 4/4 | - |
7-43978084-G-A | UBE2D4 | c.79G>A | p.Gly27Ser | Missense | 2/7 | - |
X-99931103-C-T | SYTL4 | c.1938G>A | p.Met646Ile | Missense | 19/19 | - |
9-123675628-C-T | TRAF1 | c.683G>A | p.Arg228His | Missense | 5/8 | - |
16-30594465-G-A | ZNF785 | c.634C>T | p.Arg212Cys | Missense | 3/3 | - |
19-371266-C-T | THEG | c.692G>A | p.Arg231His | Missense | 6/8 | - |
17-28601131-T-C | BLMH | c.730A>G | p.Lys244Glu | Missense | 7/12 | - |
6-28219695-G-A | ZKSCAN4 | c.64C>T | p.Leu22Phe | Missense | 1/5 | - |
3-128356666-G-C | RPN1 | c.609C>G | p.Phe203Leu | Missense | 3/10 | - |
17-42992526-G-C | GFAP | c.329C>G | p.Thr110Ser | Missense | 1/9 | - |
8-6783420-G-T | DEFA6 | c.138C>A | p.Asp46Glu | Missense | 1/2 | - |
16-731811-G-C | JMJD8 | c.*983C>G | - | 3-UTRSNV | 9/9 | - |
11-6500456-G-C | ARFIP2 | c.229C>G | p.Pro77Ala | Missense | 4/8 | - |
1-29475394-C-A | SRSF4 | c.1013G>T | p.Gly338Val | Missense | 6/6 | - |
6-10877559-C-G | GCM2 | c.157G>C | p.Asp53His | Missense | 2/5 | - |
6-10877559-C-T | GCM2 | c.157G>A | p.Asp53Asn | Missense | 2/5 | - |
16-731811-G-T | JMJD8 | c.*983C>A | - | 3-UTRSNV | 9/9 | - |
16-731811-G-A | JMJD8 | c.*983C>T | - | 3-UTRSNV | 9/9 | - |
7-75189102-G-T | HIP1 | c.1309C>A | p.Leu437Met | Missense | 14/31 | - |
19-373485-T-C | THEG | c.550A>G | p.Thr184Ala | Missense | 4/8 | - |
2-88825941-A-G | TEX37 | c.46A>G | p.Ile16Val | Missense | 3/4 | - |
22-38084910-T-C | NOL12 | c.292T>C | p.Tyr98His | Missense | 4/6 | - |
22-38084910-T-A | NOL12 | c.292T>A | p.Tyr98Asn | Missense | 4/6 | - |
17-40277865-C-T | RAB5C | c.587G>A | p.Arg196Gln | Missense | 6/6 | - |
11-73990475-G-A | P4HA3 | c.1133C>T | p.Ser378Leu | Missense | 8/13 | - |
3-37089037-A-C | MLH1 | c.1759A>C | p.Met587Leu | Missense | 16/19 | - |
1-233802497-G-A | KCNK1 | c.512G>A | p.Arg171His | Missense | 2/3 | - |
14-65009276-A-G | HSPA2 | c.1709A>G | p.Lys570Arg | Missense | 1/1 | - |
17-79954429-C-T | ASPSCR1 | c.640C>T | p.Arg214Cys | Missense | 7/16 | - |
6-34497563-C-T | PACSIN1 | c.733C>T | p.Leu245Phe | Missense | 6/10 | - |
15-57545644-C-T | TCF12 | c.1373C>T | p.Ala458Val | Missense | 15/20 | - |
20-37547160-C-T | PPP1R16B | c.1555C>T | p.Pro519Ser | Missense | 11/11 | - |
11-562421-G-A | RASSF7 | c.467G>A | p.Arg156Gln | Missense | 3/6 | - |
11-562421-G-C | RASSF7 | c.467G>C | p.Arg156Pro | Missense | 3/6 | - |
1-151743565-G-A | OAZ3 | c.578G>A | - | missense_variant | 5/5 | - |
18-48593468-G-C | SMAD4 | c.1219G>C | p.Val407Leu | Missense | 10/12 | - |
3-137787041-C-T | DZIP1L | c.1784G>A | p.Gly595Glu | Missense | 13/16 | - |
12-124111627-C-A | EIF2B1 | c.446G>T | p.Ser149Ile | Missense | 5/9 | - |
15-67457698-A-G | SMAD3 | c.508A>G | p.Ile170Val | Missense | 3/9 | - |
9-92220760-G-A | GADD45G | c.334G>A | p.Gly112Ser | Missense | 3/4 | - |
1-19635011-C-G | AKR7A2 | c.424G>C | p.Ala142Pro | Missense | 2/7 | - |
1-19635011-C-T | AKR7A2 | c.424G>A | p.Ala142Thr | Missense | 2/7 | - |
20-18513350-G-A | SEC23B | c.1276G>A | p.Val426Ile | Missense | 11/20 | - |
3-123695759-A-C | ROPN1 | c.186T>G | p.Cys62Trp | Missense | 4/7 | - |
1-60338498-C-T | HOOK1 | c.2048C>T | p.Ser683Phe | Missense | 22/22 | - |
5-150436422-C-T | TNIP1 | c.532G>A | p.Gly178Ser | Missense | 6/18 | - |
10-118100258-T-C | CCDC172 | c.178T>C | p.Phe60Leu | Missense | 4/9 | - |
4-95561480-C-T | PDLIM5 | c.835C>T | p.Pro279Ser | Missense | 9/13 | - |
10-17747630-G-A | STAM | c.1099G>A | p.Ala367Thr | Missense | 12/14 | - |
19-39322087-T-G | ECH1 | c.122A>C | p.Glu41Ala | Missense | 2/10 | - |
8-6783453-C-G | DEFA6 | c.105G>C | p.Glu35Asp | Missense | 1/2 | - |
8-6783453-C-T | DEFA6 | c.105G>A | p.Glu35Glu | Synonymous | 1/2 | - |
10-92631778-G-A | RPP30 | c.35G>A | p.Gly12Asp | Missense | 1/11 | - |
2-70057253-G-A | GMCL1 | c.229G>A | p.Glu77Lys | Missense | 1/14 | - |
2-70057253-G-C | GMCL1 | c.229G>C | p.Glu77Gln | Missense | 1/14 | - |
10-92631778-G-T | RPP30 | c.35G>T | p.Gly12Val | Missense | 1/11 | - |
13-52604648-G-A | ALG11 | c.*1922G>A | - | IntergenicSNV | 4/4 | - |
9-97321276-G-T | FBP2 | c.964C>A | p.Pro322Thr | Missense | 7/7 | - |
17-28598294-C-T | BLMH | c.1141G>A | p.Glu381Lys | Missense | 10/12 | - |
6-30128442-C-T | TRIM10 | c.194G>A | p.Arg65His | Missense | 1/7 | - |
12-12870793-C-G | CDKN1B | c.20C>G | p.Ser7Cys | Missense | 1/3 | - |
10-95259983-C-T | CEP55 | c.175C>T | p.Leu59Phe | Missense | 2/9 | - |
18-32823206-C-T | ZNF397 | c.505C>T | p.Pro169Ser | Missense | 3/6 | - |
3-119219573-A-G | TIMMDC1 | c.226A>G | p.Asn76Asp | Missense | 2/7 | - |
18-32823206-C-G | ZNF397 | c.505C>G | p.Pro169Ala | Missense | 3/6 | - |
6-28268824-A-G | PGBD1 | c.1193A>G | p.Asn398Ser | Missense | 7/7 | - |
8-57026379-T-C | MOS | c.163A>G | p.Ile55Val | Missense | 1/1 | - |
19-10677955-C-A | CDKN2D | c.280G>T | p.Val94Leu | Missense | 3/3 | - |
19-34942926-G-A | UBA2 | c.912G>A | p.Gln304Gln | Synonymous | 10/17 | - |
6-41903760-G-A | CCND3 | c.797C>T | p.Ala266Val | Missense | 5/5 | - |
12-122353796-A-G | PSMD9 | c.590A>G | p.Glu197Gly | Missense | 5/6 | - |
1-156255327-T-A | TMEM79 | c.310T>A | p.Ser104Thr | Missense | 2/4 | - |
2-158978085-C-T | UPP2 | c.619C>T | p.Pro207Ser | Missense | 5/7 | - |
9-123675635-G-A | TRAF1 | c.676C>T | p.Arg226Cys | Missense | 5/8 | - |
3-37090471-A-G | MLH1 | c.2066A>G | p.Gln689Arg | Missense | 18/19 | - |
2-163208893-T-G | GCA | c.238T>G | p.Ser80Ala | Missense | 3/8 | - |
1-20931529-C-T | CDA | c.263C>T | p.Ala88Val | Missense | 2/4 | - |
12-56554090-G-T | MYL6 | c.413G>T | p.Cys138Phe | Missense | 5/7 | - |
12-56554090-G-C | MYL6 | c.413G>C | p.Cys138Ser | Missense | 5/7 | - |
1-246810698-C-T | CNST | c.1195C>T | p.Arg399Cys | Missense | 9/11 | - |
9-139265402-C-T | CARD9 | c.518G>A | p.Arg173His | Missense | 4/13 | - |
19-8578000-G-A | ZNF414 | c.229C>T | p.Pro77Ser | Missense | 2/6 | - |
2-28081430-G-A | RBKS | c.98C>T | p.Ser33Phe | Missense | 2/8 | - |
20-45315786-C-T | TP53RK | c.368G>A | p.Arg123Gln | Missense | 2/2 | - |
20-31421567-A-G | MAPRE1 | c.166A>G | p.Ile56Val | Missense | 3/7 | - |
2-105990062-G-A | FHL2 | c.285C>T | p.Asn95Asn | Synonymous | 4/7 | - |
12-88379752-T-C | C12orf50 | c.1001A>G | p.Tyr334Cys | Missense | 11/13 | - |
12-56554090-G-A | MYL6 | c.413G>A | p.Cys138Tyr | Missense | 5/7 | - |
3-37092025-C-T | MLH1 | c.2152C>T | p.His718Tyr | Missense | 19/19 | - |
11-102248406-A-G | BIRC2 | c.1546A>G | p.Lys516Glu | Missense | 7/9 | - |
15-74925156-T-C | EDC3 | c.1324A>G | p.Ile442Val | Missense | 7/7 | - |
8-37996388-C-T | ASH2L | c.1774C>T | p.Arg592Cys | Missense | 15/16 | - |
7-56082831-G-A | PSPH | c.455C>T | p.Thr152Ile | Missense | 7/8 | - |
11-65715171-G-A | TSGA10IP | c.875G>A | p.Ser292Asn | Missense | 3/8 | - |
7-56082831-G-T | PSPH | c.455C>A | p.Thr152Lys | Missense | 7/8 | - |
13-47355699-T-C | ESD | c.433A>G | p.Ile145Val | Missense | 7/10 | - |
15-83447631-T-G | FSD2 | c.998A>C | p.Lys333Thr | Missense | 6/13 | - |
2-39006154-G-A | GEMIN6 | c.22G>A | p.Gly8Ser | Missense | 2/3 | - |
16-4833960-C-T | SEPT12 | c.484G>A | p.Val162Met | Missense | 5/10 | - |
7-123109348-T-A | IQUB | c.1501A>T | p.Ile501Phe | Missense | 9/13 | - |
22-38341124-T-G | C22orf23 | c.406A>C | p.Met136Leu | Missense | 5/7 | - |
19-58640327-T-C | ZNF329 | c.544A>G | p.Asn182Asp | Missense | 4/4 | - |
18-61077645-G-C | VPS4B | c.174C>G | p.Ile58Met | Missense | 3/11 | - |
2-71351487-G-A | MCEE | c.227C>T | p.Ala76Val | Missense | 2/3 | - |
2-70098882-G-A | GMCL1 | c.1370G>A | p.Arg457His | Missense | 13/14 | - |
11-6631234-G-A | ILK | c.1046G>A | p.Arg349His | Missense | 11/13 | - |
6-36652067-C-T | CDKN1A | c.189C>T | p.Phe63Phe | Synonymous | 3/4 | - |
11-6631234-G-T | ILK | c.1046G>T | p.Arg349Leu | Missense | 11/13 | - |
2-242265432-C-G | SEPT2 | c.34C>G | p.Pro12Ala | Missense | 3/13 | - |
16-85722428-A-G | GINS2 | c.77T>C | p.Ile26Thr | Missense | 1/5 | - |
15-65256074-G-C | SPG21 | c.814C>G | p.His272Asp | Missense | 9/9 | - |
6-30303553-T-C | TRIM39-RPP21 | c.581T>C | p.Leu194Ser | Missense | 3/10 | - |
2-132290464-G-A | CCDC74A | c.904G>A | p.Gly302Arg | Missense | 6/8 | - |
4-114378518-C-T | CAMK2D | c.1406G>A | p.Arg469His | Missense | 17/19 | - |
2-39006206-G-A | GEMIN6 | c.74G>A | p.Ser25Asn | Missense | 2/3 | - |
11-77937972-T-A | GAB2 | c.746A>T | p.Tyr249Phe | Missense | 4/10 | - |
11-77937972-T-C | GAB2 | c.746A>G | p.Tyr249Cys | Missense | 4/10 | - |
12-105611448-T-C | APPL2 | c.209A>G | p.Lys70Arg | Missense | 3/21 | - |
3-57271566-A-G | APPL1 | c.200A>G | p.Glu67Gly | Missense | 3/22 | - |
3-57271566-A-C | APPL1 | c.200A>C | p.Glu67Ala | Missense | 3/22 | - |
18-52604083-T-C | CCDC68 | c.452A>G | p.Asp151Gly | Missense | 6/12 | - |
15-57355989-G-C | TCF12 | c.190G>C | p.Gly64Arg | Missense | 4/20 | - |
3-10183605-C-T | VHL | c.74C>T | p.Pro25Leu | Missense | 1/3 | - |
2-231333763-A-T | SP100 | c.1297A>T | p.Met433Leu | Missense | 14/25 | - |
4-114378518-C-A | CAMK2D | c.1406G>T | p.Arg469Leu | Missense | 17/19 | - |
21-44488631-T-G | CBS | c.304A>C | p.Lys102Gln | Missense | 4/17 | - |
19-48789501-T-C | ZNF114 | c.620T>C | p.Val207Ala | Missense | 6/6 | - |
17-4892176-C-A | INCA1 | c.414G>T | p.Glu138Asp | Missense | 7/8 | - |
17-4892176-C-G | INCA1 | c.414G>C | p.Glu138Asp | Missense | 7/8 | - |
13-52604894-G-A | ALG11 | c.*2168G>A | - | IntergenicSNV | 4/4 | - |
3-52023020-C-T | ACY1 | c.1156C>T | p.Arg386Cys | Missense | 15/15 | - |
17-42811497-T-C | DBF4B | c.596T>C | p.Leu199Ser | Missense | 7/15 | - |
2-99232993-A-G | UNC50 | c.640A>G | p.Ser214Gly | Missense | 5/6 | - |
4-166184433-G-A | KLHL2 | c.478G>A | p.Val160Ile | Missense | 5/15 | - |
6-155154230-A-G | SCAF8 | c.3517A>G | p.Met1173Val | Missense | 20/20 | - |
1-182354972-C-T | GLUL | c.526G>A | p.Val176Met | Missense | 6/8 | - |
17-7129898-G-T | DVL2 | c.1604C>A | p.Thr535Asn | Missense | 14/15 | - |
1-19634722-G-A | AKR7A2 | c.521C>T | p.Ala174Val | Missense | 3/7 | - |
19-13059148-C-T | RAD23A | c.392C>T | p.Thr131Met | Missense | 3/9 | - |
22-39917960-A-G | ATF4 | c.409A>G | p.Thr137Ala | Missense | 2/2 | - |
22-39917960-A-T | ATF4 | c.409A>T | p.Thr137Ser | Missense | 2/2 | - |
7-143001811-G-A | CASP2 | c.1162G>A | p.Glu388Lys | Missense | 10/11 | - |
19-44739328-C-A | ZNF227 | c.745C>A | p.Pro249Thr | Missense | 6/6 | - |
19-13059148-C-A | RAD23A | c.392C>A | p.Thr131Lys | Missense | 3/9 | - |
6-35782525-G-C | LHFPL5 | c.615G>C | p.Lys205Asn | Missense | 2/4 | - |
6-35782525-G-A | LHFPL5 | c.615G>A | p.Lys205Lys | Synonymous | 2/4 | - |
14-105642889-C-T | NUDT14 | c.410G>A | p.Arg137His | Missense | 4/5 | - |
1-15832543-T-C | CASP9 | c.413A>G | p.Gln138Arg | Missense | 5/9 | - |
1-15832543-T-A | CASP9 | c.413A>T | p.Gln138Leu | Missense | 5/9 | - |
14-75747512-G-A | FOS | c.528G>A | p.Lys176Lys | Synonymous | 4/4 | - |
14-75747512-G-C | FOS | c.528G>C | p.Lys176Asn | Missense | 4/4 | - |
6-30529700-C-T | PRR3 | c.259C>T | p.Arg87Trp | Missense | 3/4 | - |
2-95537563-C-T | TEKT4 | c.239C>T | p.Ala80Val | Missense | 1/6 | - |
11-43904670-G-T | ALKBH3 | c.115G>T | p.Gly39Cys | Missense | 3/10 | - |
5-134364518-C-G | PITX1 | c.896G>C | p.Gly299Ala | Missense | 3/3 | - |
X-69176938-G-A | EDA | c.458G>A | p.Arg153His | Missense | 2/8 | - |
2-201768238-C-T | NIF3L1 | c.890C>T | p.Thr297Ile | Missense | 7/7 | - |
19-804613-G-T | PTBP1 | c.517G>T | p.Ala173Ser | Missense | 6/15 | - |
6-122741351-A-T | HSF2 | c.665A>T | p.Asp222Val | Missense | 7/13 | - |
14-67759282-C-G | MPP5 | c.422C>G | p.Ser141Cys | Missense | 4/15 | - |
14-67759282-C-A | MPP5 | c.422C>A | p.Ser141Tyr | Missense | 4/15 | - |
14-67759282-C-T | MPP5 | c.422C>T | p.Ser141Phe | Missense | 4/15 | - |
7-97487664-C-T | ASNS | c.829G>A | p.Ala277Thr | Missense | 7/13 | - |
8-16026259-A-T | MSR1 | c.338T>A | p.Val113Asp | Missense | 4/9 | - |
17-7574013-G-A | TP53 | c.1014C>T | p.Phe338Phe | Synonymous | 10/11 | - |
17-7574013-G-C | TP53 | c.1014C>G | p.Phe338Leu | Missense | 10/11 | - |
17-73127348-G-A | NT5C | c.203C>T | p.Pro68Leu | Missense | 2/4 | - |
19-12786370-G-A | WDR83 | c.832G>A | p.Gly278Ser | Missense | 9/9 | - |
19-12786370-G-T | WDR83 | c.832G>T | p.Gly278Cys | Missense | 9/9 | - |
1-12082938-C-T | MIIP | c.511C>T | p.Arg171Cys | Missense | 4/10 | - |
X-9000463-C-G | FAM9B | c.68G>C | p.Arg23Pro | Missense | 3/9 | - |
8-57026229-C-A | MOS | c.313G>T | p.Ala105Ser | Missense | 1/1 | - |
8-57026229-C-G | MOS | c.313G>C | p.Ala105Pro | Missense | 1/1 | - |
22-50989747-G-C | SYCE3 | c.194C>G | p.Ala65Gly | Missense | 3/3 | - |
15-90904468-C-T | ZNF774 | c.1405C>T | p.Arg469Cys | Missense | 4/4 | - |
8-22021460-G-A | SFTPC | c.500G>A | p.Arg167Gln | Missense | 5/6 | - |
11-103908233-A-C | DDI1 | c.683A>C | p.Asn228Thr | Missense | 1/1 | - |
11-103908233-A-G | DDI1 | c.683A>G | p.Asn228Ser | Missense | 1/1 | - |
1-169345883-A-G | BLZF1 | c.134A>G | p.His45Arg | Missense | 3/8 | - |
7-99170307-C-G | ZNF655 | c.576C>G | p.Ser192Arg | Missense | 3/3 | - |
12-10251445-C-A | CLEC1A | c.77G>T | p.Gly26Val | Missense | 1/6 | - |
14-31071310-C-T | G2E3 | c.983C>T | p.Pro328Leu | Missense | 10/15 | - |
2-198361866-C-T | HSPD1 | c.425G>A | p.Arg142Lys | Missense | 3/12 | - |
12-113867073-G-A | SDSL | c.323G>A | p.Gly108Glu | Missense | 5/9 | - |
19-12786370-G-C | WDR83 | c.832G>C | p.Gly278Arg | Missense | 9/9 | - |
22-39918323-C-G | ATF4 | c.772C>G | p.Pro258Ala | Missense | 2/2 | - |
9-139811005-G-A | TRAF2 | c.616G>A | p.Val206Ile | Missense | 7/11 | - |
3-53324848-C-G | DCP1A | c.1422G>C | p.Gln474His | Missense | 8/10 | - |
1-24124195-T-G | GALE | c.518A>C | p.Gln173Pro | Missense | 6/12 | - |
19-45593574-C-T | GEMIN7 | c.202C>T | p.Arg68Cys | Missense | 2/2 | - |
19-46417748-G-T | NANOS2 | c.204C>A | p.His68Gln | Missense | 1/1 | - |
6-130415458-C-A | L3MBTL3 | c.1682C>A | p.Pro561Gln | Missense | 18/23 | - |
19-35175877-G-A | ZNF302 | c.935G>A | p.Arg312His | Missense | 5/5 | - |
1-156105062-A-G | LMNA | c.895A>G | p.Ile299Val | Missense | 5/12 | - |
19-54659488-G-A | LENG1 | c.766C>T | p.Arg256Cys | Missense | 4/4 | - |
3-37045902-G-A | MLH1 | c.317G>A | p.Ser106Asn | Missense | 4/19 | - |
14-65009260-A-G | HSPA2 | c.1693A>G | p.Ile565Val | Missense | 1/1 | - |
19-54659488-G-T | LENG1 | c.766C>A | p.Arg256Ser | Missense | 4/4 | - |
3-44763037-A-C | ZNF502 | c.728A>C | p.Glu243Ala | Missense | 4/4 | - |
3-44763037-A-T | ZNF502 | c.728A>T | p.Glu243Val | Missense | 4/4 | - |
14-65008138-T-A | HSPA2 | c.571T>A | p.Cys191Ser | Missense | 1/1 | - |
3-137786501-C-T | DZIP1L | c.1874G>A | p.Arg625His | Missense | 14/16 | - |
6-33543133-G-A | BAK1 | c.292C>T | p.Gln98* | Nonsense | 4/6 | - |
19-14000170-T-C | C19orf57 | c.1499A>G | p.Gln500Arg | Missense | 6/8 | - |
17-15217437-C-A | TEKT3 | c.845G>T | p.Gly282Val | Missense | 6/9 | - |
6-33543133-G-C | BAK1 | c.292C>G | p.Gln98Glu | Missense | 4/6 | - |
3-52022837-C-T | ACY1 | c.1057C>T | p.Arg353Cys | Missense | 14/15 | - |
11-5248232-T-G | HBB | c.20A>C | p.Glu7Ala | Missense | 1/3 | - |
11-5248232-T-A | HBB | c.20A>T | p.Glu7Val | Missense | 1/3 | - |
11-102221475-A-G | BIRC2 | c.890A>G | p.Tyr297Cys | Missense | 2/9 | - |
19-14000870-C-T | C19orf57 | c.799G>A | p.Gly267Arg | Missense | 6/8 | - |
3-160156200-G-A | TRIM59 | c.772C>T | p.Arg258Cys | Missense | 3/3 | - |
10-61083752-G-A | FAM13C | c.439C>T | p.Pro147Ser | Missense | 4/12 | - |
10-103310600-A-T | BTRC | c.1801A>T | p.Thr601Ser | Missense | 14/15 | - |
17-39521248-A-C | KRT33B | c.880T>G | p.Tyr294Asp | Missense | 6/7 | - |
19-49337595-C-T | HSD17B14 | c.148G>A | p.Glu50Lys | Missense | 3/9 | - |
12-110341016-G-A | TCHP | c.185G>A | p.Arg62Gln | Missense | 2/13 | - |
13-30784457-A-T | KATNAL1 | c.1270T>A | p.Cys424Ser | Missense | 10/11 | - |
18-44560429-C-A | ELOA2 | c.1207G>T | p.Ala403Ser | Missense | 1/1 | - |
5-159820931-C-A | ZBED8 | c.1567G>T | p.Ala523Ser | Missense | 2/2 | - |
18-44560429-C-T | ELOA2 | c.1207G>A | p.Ala403Thr | Missense | 1/1 | - |
2-71337203-C-T | MCEE | c.428G>A | p.Arg143His | Missense | 3/3 | - |
X-153609258-G-C | EMD | c.466G>C | p.Gly156Arg | Missense | 6/6 | - |
X-153609258-G-A | EMD | c.466G>A | p.Gly156Ser | Missense | 6/6 | - |
2-71337203-C-A | MCEE | c.428G>T | p.Arg143Leu | Missense | 3/3 | - |
12-113355447-T-C | OAS1 | c.980T>C | p.Leu327Pro | Missense | 5/6 | - |
10-103541585-C-T | NPM3 | c.445G>A | p.Glu149Lys | Missense | 5/6 | - |
5-78417152-C-A | BHMT | c.589C>A | p.Pro197Thr | Missense | 5/8 | - |
5-82500729-G-A | XRCC4 | c.734G>A | p.Gly245Glu | Missense | 6/8 | - |
4-77053834-T-C | NUP54 | c.605A>G | p.Asn202Ser | Missense | 5/11 | - |
5-176931871-C-T | DOK3 | c.686G>A | p.Arg229His | Missense | 5/6 | - |
12-44165088-C-T | IRAK4 | c.227C>T | p.Thr76Ile | Missense | 4/13 | - |
22-31583129-G-A | RNF185 | c.49G>A | p.Ala17Thr | Missense | 2/7 | - |
17-73127192-A-G | NT5C | c.284T>C | p.Val95Ala | Missense | 3/4 | - |
19-56156364-C-T | ZNF581 | c.427C>T | p.Arg143Trp | Missense | 2/2 | - |
12-91347643-C-A | CCER1 | c.877G>T | p.Glu293* | Nonsense | 1/1 | - |
19-13867018-C-G | CCDC130 | c.65C>G | p.Ser22Cys | Missense | 4/10 | - |
7-73609092-G-C | EIF4H | c.491G>C | p.Gly164Ala | Missense | 6/7 | - |
7-73609092-G-T | EIF4H | c.491G>T | p.Gly164Val | Missense | 6/7 | - |
1-110888948-G-A | RBM15 | c.*59G>A | - | 3_prime_UTR_variant | 3/3 | - |
1-110888948-G-C | RBM15 | c.*59G>C | - | 3_prime_UTR_variant | 3/3 | - |
3-49313882-T-C | C3orf62 | c.424A>G | p.Asn142Asp | Missense | 1/3 | - |
6-13321321-A-C | TBC1D7 | c.200T>G | p.Leu67Trp | Missense | 4/8 | - |
17-47022048-C-T | SNF8 | c.49G>A | p.Ala17Thr | Missense | 1/8 | - |
3-52022997-G-A | ACY1 | c.1133G>A | p.Arg378Gln | Missense | 15/15 | - |
12-52884427-C-T | KRT6A | c.1003G>A | p.Ala335Thr | Missense | 5/9 | - |
4-155719189-T-G | RBM46 | c.378T>G | p.Ile126Met | Missense | 3/5 | - |
1-182356326-G-A | GLUL | c.268C>T | p.Arg90Cys | Missense | 4/8 | - |
18-44561619-G-C | ELOA2 | c.17C>G | p.Thr6Ser | Missense | 1/1 | - |
12-91347643-C-T | CCER1 | c.877G>A | p.Glu293Lys | Missense | 1/1 | - |
4-55599320-G-C | KIT | c.2446G>C | p.Asp816His | Missense | 17/21 | - |
7-27135238-G-C | HOXA1 | c.294C>G | p.Ser98Arg | Missense | 1/2 | - |
X-149013408-G-A | MAGEA8 | c.362G>A | p.Arg121His | Missense | 3/3 | - |
6-52615415-T-G | GSTA2 | c.629A>C | p.Glu210Ala | Missense | 7/7 | - |
19-15794470-G-A | CYP4F12 | c.815G>A | p.Arg272Gln | Missense | 7/13 | - |
1-3807360-G-A | C1orf174 | c.391C>T | p.Arg131Cys | Missense | 3/4 | - |
22-26906216-C-T | TFIP11 | c.23G>A | p.Arg8Gln | Missense | 5/16 | - |
4-110615839-C-T | CASP6 | c.325G>A | p.Ala109Thr | Missense | 5/7 | - |
8-26365716-C-T | PNMA2 | c.556G>A | p.Glu186Lys | Missense | 3/3 | - |
9-97382706-C-T | FBP1 | c.238G>A | p.Asp80Asn | Missense | 2/7 | - |
9-97382706-C-G | FBP1 | c.238G>C | p.Asp80His | Missense | 2/7 | - |
5-150444611-C-T | TNIP1 | c.46G>A | p.Val16Met | Missense | 2/18 | - |
5-150444611-C-G | TNIP1 | c.46G>C | p.Val16Leu | Missense | 2/18 | - |
14-20781942-A-G | CCNB1IP1 | c.316T>C | p.Tyr106His | Missense | 6/7 | - |
20-9543622-C-G | PAK5 | c.1532G>C | p.Ser511Thr | Missense | 7/11 | - |
20-9543622-C-T | PAK5 | c.1532G>A | p.Ser511Asn | Missense | 7/11 | - |
16-71602131-C-T | TAT | c.1281G>A | p.Met427Ile | Missense | 12/12 | - |
1-32660697-C-G | TXLNA | c.1542C>G | p.Ser514Arg | Missense | 11/11 | - |
17-66038247-C-T | KPNA2 | c.349C>T | p.Arg117Trp | Missense | 5/11 | - |
4-114458513-G-T | CAMK2D | c.501C>A | p.Asp167Glu | Missense | 7/19 | - |
11-6629316-G-C | ILK | c.130G>C | p.Glu44Gln | Missense | 3/13 | - |
11-118842694-A-G | FOXR1 | c.53A>G | p.Glu18Gly | Missense | 1/6 | - |
5-75003678-T-C | POC5 | c.32A>G | p.His11Arg | Missense | 2/11 | - |
5-75003678-T-A | POC5 | c.32A>T | p.His11Leu | Missense | 2/11 | - |
12-92537956-T-C | BTG1 | c.416A>G | p.Asn139Ser | Missense | 2/2 | - |
12-3782647-A-T | CRACR2A | c.636T>A | p.His212Gln | Missense | 7/11 | - |
2-95542327-T-A | TEKT4 | c.1121T>A | p.Met374Lys | Missense | 6/6 | - |
9-135703450-G-T | AK8 | c.506C>A | p.Thr169Lys | Missense | 7/13 | - |
2-95542327-T-C | TEKT4 | c.1121T>C | p.Met374Thr | Missense | 6/6 | - |
19-19042160-G-A | HOMER3 | c.868C>T | p.Arg290Cys | Missense | 9/10 | - |
14-75747681-C-G | FOS | c.697C>G | p.Pro233Ala | Missense | 4/4 | - |
12-99020285-A-C | IKBIP | c.557T>G | p.Val186Gly | Missense | 3/3 | - |
2-88828651-T-C | TEX37 | c.202T>C | p.Tyr68His | Missense | 4/4 | - |
7-25181912-T-C | C7orf31 | c.899A>G | p.His300Arg | Missense | 9/10 | - |
16-71604296-C-T | TAT | c.917G>A | p.Arg306Gln | Missense | 9/12 | - |
6-28219524-C-T | ZKSCAN4 | c.235G>A | p.Gly79Arg | Missense | 1/5 | - |
6-28219524-C-G | ZKSCAN4 | c.235G>C | p.Gly79Arg | Missense | 1/5 | - |
1-11119353-C-G | SRM | c.217G>C | p.Glu73Gln | Missense | 2/8 | - |
11-6631039-T-A | ILK | c.941T>A | p.Leu314His | Missense | 10/13 | - |
6-24784327-C-G | GMNN | c.287C>G | p.Ser96Cys | Missense | 5/7 | - |
3-12447548-G-A | PPARG | c.703G>A | p.Ala235Thr | Missense | 5/7 | - |
1-24125119-G-A | GALE | c.223C>T | p.Arg75Cys | Missense | 4/12 | - |
19-19042139-C-G | HOMER3 | c.889G>C | p.Val297Leu | Missense | 9/10 | - |
15-57554332-A-G | TCF12 | c.1436A>G | p.Asn479Ser | Missense | 16/20 | - |
X-48767196-C-T | SLC35A2 | c.169G>A | p.Ala57Thr | Missense | 2/5 | - |
X-154490199-C-G | RAB39B | c.531G>C | p.Arg177Ser | Missense | 2/2 | - |
2-33810638-T-G | FAM98A | c.847A>C | p.Ser283Arg | Missense | 7/8 | - |
2-33810638-T-C | FAM98A | c.847A>G | p.Ser283Gly | Missense | 7/8 | - |
X-154490199-C-A | RAB39B | c.531G>T | p.Arg177Ser | Missense | 2/2 | - |
7-142997061-C-G | CASP2 | c.793C>G | p.Arg265Gly | Missense | 7/11 | - |
7-87537029-A-G | DBF4 | c.1576A>G | p.Ile526Val | Missense | 12/12 | - |
11-43923243-C-T | ALKBH3 | c.637C>T | p.Arg213Cys | Missense | 8/10 | - |
17-53077063-T-C | STXBP4 | c.358T>C | p.Cys120Arg | Missense | 6/18 | - |
7-56087368-G-T | PSPH | c.200C>A | p.Ala67Asp | Missense | 5/8 | - |
3-57294729-C-T | APPL1 | c.1769C>T | p.Thr590Ile | Missense | 19/22 | - |
14-20757838-C-A | TTC5 | c.1271G>T | p.Gly424Val | Missense | 10/10 | - |
14-55611839-A-T | LGALS3 | c.603A>T | p.Gln201His | Missense | 6/6 | - |
12-56600323-C-T | RNF41 | c.862G>A | p.Val288Met | Missense | 7/7 | - |
1-25571666-A-G | RSRP1 | c.647T>C | p.Val216Ala | Missense | 3/5 | - |
5-137464978-T-G | NME5 | c.309A>C | p.Leu103Phe | Missense | 3/6 | - |
9-139802555-A-G | TRAF2 | c.400A>G | p.Thr134Ala | Missense | 5/11 | - |
10-17726729-G-T | STAM | c.181G>T | p.Val61Phe | Missense | 3/14 | - |
10-17726729-G-A | STAM | c.181G>A | p.Val61Ile | Missense | 3/14 | - |
2-202900223-C-T | FZD7 | c.853C>T | p.Pro285Ser | Missense | 1/1 | - |
1-152785245-G-A | LCE1B | c.323G>A | p.Gly108Glu | Missense | 1/1 | - |
15-57524982-G-A | TCF12 | c.898G>A | p.Gly300Ser | Missense | 11/20 | - |
13-47354101-C-T | ESD | c.569G>A | p.Gly190Glu | Missense | 8/10 | - |
15-57524982-G-T | TCF12 | c.898G>T | p.Gly300Cys | Missense | 11/20 | - |
13-30804719-C-A | KATNAL1 | c.898G>T | p.Ala300Ser | Missense | 8/11 | - |
17-39595574-C-A | KRT38 | c.613G>T | p.Ala205Ser | Missense | 3/7 | - |
19-373508-C-T | THEG | c.527G>A | p.Arg176Gln | Missense | 4/8 | - |
3-180328106-A-G | TTC14 | c.2089A>G | p.Ser697Gly | Missense | 12/12 | - |
9-123675689-C-T | TRAF1 | c.622G>A | p.Val208Met | Missense | 5/8 | - |
11-65715210-G-A | TSGA10IP | c.914G>A | p.Arg305Gln | Missense | 3/8 | - |
13-50056926-G-A | SETDB2 | c.1246G>A | p.Gly416Arg | Missense | 10/15 | - |
1-91973915-T-A | CDC7 | c.296T>A | p.Ile99Lys | Missense | 4/12 | - |
1-91973915-T-C | CDC7 | c.296T>C | p.Ile99Thr | Missense | 4/12 | - |
6-28264692-C-G | PGBD1 | c.742C>G | p.Gln248Glu | Missense | 5/7 | - |
1-3807168-C-T | C1orf174 | c.583G>A | p.Val195Met | Missense | 3/4 | - |
15-91485730-C-G | UNC45A | c.751C>G | p.Gln251Glu | Missense | 7/20 | - |
15-91485730-C-T | UNC45A | c.751C>T | p.Gln251* | Nonsense | 7/20 | - |
7-144462990-C-A | TPK1 | c.98G>T | p.Arg33Leu | Missense | 3/9 | - |
17-79650152-C-T | ARL16 | c.197G>A | p.Gly66Asp | Missense | 3/5 | - |
17-79650152-C-G | ARL16 | c.197G>C | p.Gly66Ala | Missense | 3/5 | - |
6-30126971-G-C | TRIM10 | c.481C>G | p.Gln161Glu | Missense | 2/7 | - |
15-45361235-C-G | SORD | c.771C>G | p.Ile257Met | Missense | 7/9 | - |
13-37580090-C-A | EXOSC8 | c.272C>A | p.Ser91* | Nonsense | 6/11 | - |
3-44762830-A-G | ZNF502 | c.521A>G | p.Gln174Arg | Missense | 4/4 | - |
13-37580090-C-G | EXOSC8 | c.272C>G | p.Ser91Trp | Missense | 6/11 | - |
16-71610194-G-C | TAT | c.125C>G | p.Ser42Cys | Missense | 2/12 | - |
11-102220814-G-A | BIRC2 | c.229G>A | p.Val77Met | Missense | 2/9 | - |
12-110293524-C-T | GLTP | c.347G>A | p.Arg116Gln | Missense | 4/5 | - |
3-39139776-G-A | GORASP1 | c.1274C>T | p.Thr425Met | Missense | 9/9 | - |
10-72164174-G-C | EIF4EBP2 | c.17G>C | p.Gly6Ala | Missense | 1/3 | - |
11-102248377-C-G | BIRC2 | c.1517C>G | p.Ala506Gly | Missense | 7/9 | - |
17-7530310-C-A | SAT2 | c.255G>T | p.Lys85Asn | Missense | 4/6 | - |
15-40558145-C-T | BUB1B-PAK6 | c.307C>T | p.Arg103Cys | Missense | 5/11 | - |
20-44751363-C-T | CD40 | c.371C>T | p.Ser124Leu | Missense | 4/9 | - |
17-39140221-C-T | KRT40 | c.305G>A | p.Ser102Asn | Missense | 3/9 | - |
10-72164174-G-A | EIF4EBP2 | c.17G>A | p.Gly6Asp | Missense | 1/3 | - |
12-33049492-C-T | PKP2 | c.174G>A | p.Glu58Glu | Synonymous | 1/14 | - |
1-151141485-G-A | SCNM1 | c.617G>A | p.Arg206Gln | Missense | 7/7 | - |
4-4322847-G-A | ZBTB49 | c.2102G>A | p.Gly701Asp | Missense | 8/8 | - |
X-16717075-C-T | CTPS2 | c.308G>A | p.Arg103His | Missense | 3/19 | - |
5-170827900-T-C | NPM1 | c.640T>C | p.Ser214Pro | Missense | 8/11 | - |
1-11115915-C-T | SRM | c.688G>A | p.Val230Met | Missense | 6/8 | - |
13-37576686-T-A | EXOSC8 | c.116T>A | p.Ile39Asn | Missense | 3/11 | - |
19-56156032-A-C | ZNF581 | c.95A>C | p.Glu32Ala | Missense | 2/2 | - |
X-48213485-T-C | SSX3 | c.229A>G | p.Thr77Ala | Missense | 4/8 | - |
22-27024258-C-G | CRYBA4 | c.307C>G | p.Arg103Gly | Missense | 5/6 | - |
9-97321404-A-G | FBP2 | c.836T>C | p.Leu279Pro | Missense | 7/7 | - |
18-32706953-C-T | MAPRE2 | c.652C>T | p.Pro218Ser | Missense | 5/7 | - |
1-116675909-A-G | MAB21L3 | c.1012A>G | p.Thr338Ala | Missense | 7/7 | - |
5-162902516-T-A | HMMR | c.1103T>A | p.Val368Asp | Missense | 11/18 | - |
1-51439785-G-C | CDKN2C | c.350G>C | p.Arg117Pro | Missense | 3/3 | - |
1-51439785-G-A | CDKN2C | c.350G>A | p.Arg117Gln | Missense | 3/3 | - |
14-81659174-G-C | GTF2A1 | c.622C>G | p.Pro208Ala | Missense | 7/9 | - |
X-38182130-T-C | RPGR | c.223A>G | p.Ile75Val | Missense | 3/19 | - |
X-37965888-G-A | SYTL5 | c.1198G>A | p.Asp400Asn | Missense | 11/17 | - |
15-65262475-C-T | SPG21 | c.538G>A | p.Ala180Thr | Missense | 6/9 | - |
4-169060721-T-C | ANXA10 | c.185T>C | p.Met62Thr | Missense | 3/12 | - |
17-72915752-C-T | USH1G | c.1179G>A | p.Glu393Glu | Synonymous | 2/3 | - |
6-139569043-T-C | TXLNB | c.1081A>G | p.Thr361Ala | Missense | 8/10 | - |
17-72915752-C-A | USH1G | c.1179G>T | p.Glu393Asp | Missense | 2/3 | - |
12-44177511-G-A | IRAK4 | c.1172G>A | p.Arg391His | Missense | 11/13 | - |
17-39139370-G-A | KRT40 | c.458C>T | p.Thr153Met | Missense | 4/9 | - |
4-95223349-A-G | HPGDS | c.383T>C | p.Met128Thr | Missense | 5/6 | - |
3-145938619-T-G | PLSCR4 | c.101A>C | p.Asn34Thr | Missense | 3/9 | - |
17-39139370-G-T | KRT40 | c.458C>A | p.Thr153Lys | Missense | 4/9 | - |
12-110341933-A-G | TCHP | c.380A>G | p.Lys127Arg | Missense | 3/13 | - |
15-40457337-C-T | BUB1B | c.119C>T | p.Thr40Met | Missense | 2/23 | - |
22-43280404-G-T | PACSIN2 | c.773C>A | p.Ser258Tyr | Missense | 6/11 | - |
22-43280401-T-C | PACSIN2 | c.776A>G | p.Asn259Ser | Missense | 6/11 | - |
4-4304599-G-A | ZBTB49 | c.1036G>A | p.Glu346Lys | Missense | 3/8 | - |
13-21750534-G-A | SKA3 | c.83C>T | p.Ala28Val | Missense | 1/9 | - |
3-32578505-T-C | DYNC1LI1 | c.830A>G | p.Gln277Arg | Missense | 6/13 | - |
19-19675819-G-A | PBX4 | c.848C>T | p.Thr283Met | Missense | 6/8 | - |
14-65009135-A-G | HSPA2 | c.1568A>G | p.Gln523Arg | Missense | 1/1 | - |
16-53532453-C-G | AKTIP | c.98G>C | p.Arg33Pro | Missense | 3/10 | - |
8-23113997-C-T | CHMP7 | c.682C>T | p.Arg228Cys | Missense | 5/11 | - |
19-48543969-C-T | CABP5 | c.131G>A | p.Arg44Gln | Missense | 3/6 | - |
3-121354620-G-C | HCLS1 | c.653C>G | p.Pro218Arg | Missense | 9/14 | - |
19-14001206-G-C | C19orf57 | c.463C>G | p.Leu155Val | Missense | 6/8 | - |
19-14001206-G-A | C19orf57 | c.463C>T | p.Leu155Phe | Missense | 6/8 | - |
4-56325147-C-T | CLOCK | c.704G>A | p.Gly235Glu | Missense | 11/23 | - |
2-25851163-C-A | DTNB | c.239G>T | p.Arg80Leu | Missense | 4/20 | - |
1-23637261-A-T | HNRNPR | c.1588T>A | p.Ser530Thr | Missense | 11/11 | - |
2-25851163-C-T | DTNB | c.239G>A | p.Arg80His | Missense | 4/20 | - |
2-105990062-G-C | FHL2 | c.285C>G | p.Asn95Lys | Missense | 4/7 | - |
22-39918522-C-G | ATF4 | c.971C>G | p.Ala324Gly | Missense | 2/2 | - |
22-39918522-C-T | ATF4 | c.971C>T | p.Ala324Val | Missense | 2/2 | - |
5-150444568-T-G | TNIP1 | c.89A>C | p.Lys30Thr | Missense | 2/18 | - |
9-139266496-C-T | CARD9 | c.35G>A | p.Ser12Asn | Missense | 2/13 | - |
1-228602686-T-C | TRIM17 | c.88A>G | p.Thr30Ala | Missense | 2/7 | - |
10-95276973-G-C | CEP55 | c.961G>C | p.Glu321Gln | Missense | 6/9 | - |
10-95276973-G-A | CEP55 | c.961G>A | p.Glu321Lys | Missense | 6/9 | - |
1-38464670-C-T | FHL3 | c.307G>A | p.Ala103Thr | Missense | 3/6 | - |
1-151742689-T-C | OAZ3 | c.521T>C | - | missense_variant | 4/5 | - |
6-24781735-C-T | GMNN | c.160C>T | p.Arg54Trp | Missense | 4/7 | - |
17-39137297-C-T | KRT40 | c.794G>A | p.Cys265Tyr | Missense | 6/9 | - |
11-61675644-T-C | RAB3IL1 | c.146A>G | p.Gln49Arg | Missense | 2/10 | - |
6-24781719-G-C | GMNN | c.144G>C | p.Leu48Phe | Missense | 4/7 | - |
6-24784754-A-G | GMNN | c.440A>G | p.His147Arg | Missense | 6/7 | - |
1-24125170-G-A | GALE | c.172C>T | p.Arg58Cys | Missense | 4/12 | - |
3-33906823-G-C | PDCD6IP | c.2348G>C | p.Gly783Ala | Missense | 17/18 | - |
17-7577091-G-T | TP53 | c.847C>A | p.Arg283Ser | Missense | 8/11 | - |
19-49334972-G-A | HSD17B14 | c.322C>T | p.Arg108Cys | Missense | 5/9 | - |
4-124322855-G-A | SPRY1 | c.109G>A | p.Ala37Thr | Missense | 3/3 | - |
12-53223865-T-C | KRT79 | c.797A>G | p.His266Arg | Missense | 4/9 | - |
10-95263099-G-A | CEP55 | c.413G>A | p.Arg138Gln | Missense | 3/9 | - |
7-91622236-A-G | AKAP9 | c.443A>G | p.Gln148Arg | Missense | 5/50 | - |
7-75197518-A-T | HIP1 | c.788T>A | p.Met263Lys | Missense | 9/31 | - |
9-97329610-T-C | FBP2 | c.647A>G | p.Tyr216Cys | Missense | 5/7 | - |
1-153534027-C-T | S100A2 | c.185G>A | - | missense_variant | 3/3 | - |
8-95479680-G-C | RAD54B | c.88C>G | p.Leu30Val | Missense | 2/15 | - |
16-88039818-C-T | BANP | c.485C>T | p.Ala162Val | Missense | 5/12 | - |
11-124564263-G-A | SPA17 | c.377G>A | p.Arg126Gln | Missense | 5/5 | - |
1-32647133-C-G | TXLNA | c.460C>G | p.Arg154Gly | Missense | 3/11 | - |
1-146639505-C-T | PRKAB2 | c.164G>A | p.Gly55Glu | Missense | 3/8 | - |
3-149193623-C-A | TM4SF4 | c.188C>A | p.Ala63Glu | Missense | 2/5 | - |
14-105639473-G-A | NUDT14 | c.554C>T | p.Pro185Leu | Missense | 5/5 | - |
17-7496382-C-T | FXR2 | c.1448G>A | p.Arg483Gln | Missense | 13/17 | - |
1-25573016-A-G | RSRP1 | c.439T>C | p.Tyr147His | Missense | 2/5 | - |
16-4833551-T-C | SEPT12 | c.638A>G | p.Gln213Arg | Missense | 7/10 | - |
3-37092019-G-A | MLH1 | c.2146G>A | p.Val716Met | Missense | 19/19 | - |
3-37092019-G-T | MLH1 | c.2146G>T | p.Val716Leu | Missense | 19/19 | - |
17-7577091-G-A | TP53 | c.847C>T | p.Arg283Cys | Missense | 8/11 | - |
19-44739328-C-T | ZNF227 | c.745C>T | p.Pro249Ser | Missense | 6/6 | - |
19-57722962-G-A | ZNF264 | c.497G>A | p.Gly166Asp | Missense | 4/4 | - |
2-98264555-A-G | COX5B | c.374A>G | p.Gln125Arg | Missense | 4/4 | - |
2-198607803-C-T | BOLL | c.810G>A | p.Met270Ile | Missense | 10/11 | - |
19-8577305-T-C | ZNF414 | c.496A>G | p.Ser166Gly | Missense | 4/6 | - |
1-15821810-G-A | CASP9 | c.757C>T | p.Pro253Ser | Missense | 7/9 | - |
5-86703854-T-G | CCNH | c.464A>C | p.Asn155Thr | Missense | 4/9 | - |
13-21732137-G-A | SKA3 | c.1043C>T | p.Thr348Met | Missense | 7/9 | - |
6-33541855-G-C | BAK1 | c.487C>G | p.Leu163Val | Missense | 5/6 | - |
1-24123212-T-C | GALE | c.770A>G | p.Lys257Arg | Missense | 9/12 | - |
18-48573524-A-G | SMAD4 | c.108A>G | p.Ala36Ala | Synonymous | 2/12 | - |
6-33541855-G-A | BAK1 | c.487C>T | p.Leu163Leu | Synonymous | 5/6 | - |
6-36652125-C-T | CDKN1A | c.247C>T | p.Arg83Trp | Missense | 3/4 | - |
15-41605529-A-G | OIP5 | c.536T>C | p.Ile179Thr | Missense | 4/5 | - |
11-116633862-G-A | BUD13 | c.443C>T | p.Pro148Leu | Missense | 4/10 | - |
17-7579548-G-A | TP53 | c.139C>T | p.Pro47Ser | Missense | 4/11 | - |
1-169345868-A-G | BLZF1 | c.119A>G | p.Gln40Arg | Missense | 3/8 | - |
17-8644901-C-T | CCDC42 | c.383G>A | p.Arg128His | Missense | 4/7 | - |
11-61732941-T-C | FTH1 | c.161A>G | p.Lys54Arg | Missense | 2/4 | - |
7-148514393-A-G | EZH2 | c.1331T>C | p.Met444Thr | Missense | 11/20 | - |
17-7579548-G-T | TP53 | c.139C>A | p.Pro47Thr | Missense | 4/11 | - |
13-21735998-T-C | SKA3 | c.760A>G | p.Thr254Ala | Missense | 5/9 | - |
3-59999794-T-C | FHIT | c.188A>G | p.Gln63Arg | Missense | 6/10 | - |
2-3625325-G-A | RPS7 | c.317G>A | p.Arg106Gln | Missense | 5/7 | - |
19-58850178-C-T | ZSCAN22 | c.962C>T | p.Ala321Val | Missense | 3/3 | - |
9-35076755-G-A | FANCG | c.890C>T | p.Thr297Ile | Missense | 7/14 | - |
11-103907956-G-A | DDI1 | c.406G>A | p.Gly136Ser | Missense | 1/1 | - |
6-139564138-A-G | TXLNB | c.1580T>C | p.Ile527Thr | Missense | 10/10 | - |
16-3339435-G-C | ZNF263 | c.929G>C | p.Cys310Ser | Missense | 6/6 | - |
6-16145325-A-G | MYLIP | c.1025A>G | p.Asn342Ser | Missense | 6/7 | - |
10-103294635-A-G | BTRC | c.1315A>G | p.Ile439Val | Missense | 10/15 | - |
19-10677811-G-A | CDKN2D | c.424C>T | p.Pro142Ser | Missense | 3/3 | - |
17-71282336-T-C | CDC42EP4 | c.304A>G | p.Met102Val | Missense | 2/2 | - |
1-24124207-C-T | GALE | c.506G>A | p.Arg169Gln | Missense | 6/12 | - |
18-2575049-T-C | NDC80 | c.163T>C | p.Ser55Pro | Missense | 3/17 | - |
9-110068787-C-A | RAD23B | c.356C>A | p.Pro119His | Missense | 4/10 | - |
9-110068787-C-G | RAD23B | c.356C>G | p.Pro119Arg | Missense | 4/10 | - |
X-48207029-C-G | SSX3 | c.477G>C | p.Arg159Ser | Missense | 7/8 | - |
22-26890200-G-A | TFIP11 | c.2063C>T | p.Ser688Leu | Missense | 15/16 | - |
1-236914923-A-G | ACTN2 | c.1810A>G | p.Met604Val | Missense | 15/21 | - |
10-98708945-C-T | LCOR | c.131C>T | p.Thr44Met | Missense | 6/8 | - |
17-39521726-T-C | KRT33B | c.668A>G | p.Gln223Arg | Missense | 4/7 | - |
11-112104210-G-T | PTS | c.370G>T | p.Val124Leu | Missense | 6/6 | - |
9-139820270-G-A | TRAF2 | c.1423G>A | p.Val475Ile | Missense | 11/11 | - |
16-30664261-G-T | PRR14 | c.341G>T | p.Arg114Leu | Missense | 5/12 | - |
15-74948095-C-G | EDC3 | c.799G>C | p.Val267Leu | Missense | 4/7 | - |
2-88828978-C-T | TEX37 | c.529C>T | p.Pro177Ser | Missense | 4/4 | - |
19-41903199-C-T | EXOSC5 | c.35G>A | p.Arg12His | Missense | 1/6 | - |
17-39140272-A-G | KRT40 | c.254T>C | p.Phe85Ser | Missense | 3/9 | - |
16-30664261-G-A | PRR14 | c.341G>A | p.Arg114His | Missense | 5/12 | - |
15-57484486-C-T | TCF12 | c.521C>T | p.Ala174Val | Missense | 7/20 | - |
17-39137104-A-G | KRT40 | c.908T>C | p.Met303Thr | Missense | 7/9 | - |
17-79650828-T-C | ARL16 | c.28A>G | p.Ser10Gly | Missense | 1/5 | - |
17-79650828-T-G | ARL16 | c.28A>C | p.Ser10Arg | Missense | 1/5 | - |
10-95276718-T-C | CEP55 | c.706T>C | p.Cys236Arg | Missense | 6/9 | - |
4-110610545-C-A | CASP6 | c.823G>T | p.Val275Phe | Missense | 7/7 | - |
6-42930538-G-A | GNMT | c.373G>A | p.Val125Met | Missense | 3/6 | - |
11-118842663-G-A | FOXR1 | c.22G>A | p.Ala8Thr | Missense | 1/6 | - |
11-5248232-T-C | HBB | c.20A>G | p.Glu7Gly | Missense | 1/3 | - |
7-56084934-GTA-AAG | PSPH | c.412_414delTACinsAAG | p.Tyr138Lys | Missense | 6/8 | - |
1-155295681-C-T | RUSC1 | c.1841C>T | p.Ser614Phe | Missense | 7/10 | - |
20-62595547-C-T | ZNF512B | c.1357G>A | p.Ala453Thr | Missense | 8/17 | - |
17-39156027-G-A | KRTAP3-2 | c.79C>T | p.Arg27Cys | Missense | 1/1 | - |
1-180243524-A-G | LHX4 | c.983A>G | p.Asn328Ser | Missense | 6/6 | - |
17-7578184-G-A | TP53 | c.665C>T | p.Pro222Leu | Missense | 6/11 | - |
19-48789566-G-C | ZNF114 | c.685G>C | p.Ala229Pro | Missense | 6/6 | - |
1-203053787-C-T | MYOG | c.541G>A | p.Ala181Thr | Missense | 2/3 | - |
X-48207029-C-T | SSX3 | c.477G>A | p.Arg159Arg | Synonymous | 7/8 | - |
12-56602037-C-G | RNF41 | c.408G>C | p.Lys136Asn | Missense | 5/7 | - |
6-31130292-C-G | TCF19 | c.836C>G | p.Ala279Gly | Missense | 4/4 | - |
3-52022996-C-T | ACY1 | c.1132C>T | p.Arg378Trp | Missense | 15/15 | - |
6-31130292-C-T | TCF19 | c.836C>T | p.Ala279Val | Missense | 4/4 | - |
19-10678035-G-A | CDKN2D | c.200C>T | p.Pro67Leu | Missense | 3/3 | - |
17-37948995-T-C | IKZF3 | c.355A>G | p.Asn119Asp | Missense | 4/8 | - |
18-53128285-T-C | TCF4 | c.269A>G | p.Asn90Ser | Missense | 5/20 | - |
11-70052416-A-G | FADD | c.464A>G | p.Asn155Ser | Missense | 2/2 | - |
21-46101993-C-T | TSPEAR | c.82+29355G>A | - | IntronicSNV | - | 1/11 |
21-46101993-C-G | TSPEAR | c.82+29355G>C | - | IntronicSNV | - | 1/11 |
17-79987456-G-A | LRRC45 | c.1439G>A | p.Arg480His | Missense | 14/17 | - |
1-60338597-G-A | HOOK1 | c.2147G>A | p.Arg716Lys | Missense | 22/22 | - |
12-53227788-C-T | KRT79 | c.257G>A | p.Gly86Glu | Missense | 1/9 | - |
20-1293040-C-T | SDCBP2 | c.673G>A | p.Gly225Arg | Missense | 7/9 | - |
6-37250068-C-T | TBC1D22B | c.529C>T | p.Pro177Ser | Missense | 4/13 | - |
6-36652078-G-A | CDKN1A | c.200G>A | p.Arg67His | Missense | 3/4 | - |
X-55651001-T-C | FOXR2 | c.857T>C | p.Val286Ala | Missense | 1/1 | - |
6-36652078-G-T | CDKN1A | c.200G>T | p.Arg67Leu | Missense | 3/4 | - |
10-95275259-C-T | CEP55 | c.626C>T | p.Thr209Met | Missense | 5/9 | - |
9-97333757-A-G | FBP2 | c.554T>C | p.Phe185Ser | Missense | 4/7 | - |
10-102796855-G-A | SFXN3 | c.628G>A | p.Val210Met | Missense | 8/12 | - |
19-54662043-C-G | LENG1 | c.289G>C | p.Glu97Gln | Missense | 2/4 | - |
X-38176636-C-A | RPGR | c.552G>T | p.Gln184His | Missense | 6/19 | - |
10-94070914-A-G | MARCH5 | c.58A>G | p.Thr20Ala | Missense | 2/6 | - |
22-39918517-G-A | ATF4 | c.966G>A | p.Glu322Glu | Synonymous | 2/2 | - |
22-26902371-T-C | TFIP11 | c.418A>G | p.Met140Val | Missense | 7/16 | - |
9-35662724-G-A | ARHGEF39 | c.688C>T | p.Arg230Cys | Missense | 7/9 | - |
11-5248233-C-G | HBB | c.19G>C | p.Glu7Gln | Missense | 1/3 | - |
16-3085326-C-T | BICDL2 | c.172G>A | p.Glu58Lys | Missense | 1/9 | - |
21-44479397-C-A | CBS | c.1162G>T | p.Asp388Tyr | Missense | 13/17 | - |
18-580623-T-C | CETN1 | c.215T>C | p.Met72Thr | Missense | 1/1 | - |
21-44479397-C-T | CBS | c.1162G>A | p.Asp388Asn | Missense | 13/17 | - |
7-25182405-G-A | C7orf31 | c.713C>T | p.Pro238Leu | Missense | 8/10 | - |
11-6631207-T-G | ILK | c.1019T>G | p.Val340Gly | Missense | 11/13 | - |
3-49313978-C-T | C3orf62 | c.328G>A | p.Glu110Lys | Missense | 1/3 | - |
3-37067306-G-A | MLH1 | c.1217G>A | p.Ser406Asn | Missense | 12/19 | - |
13-30805522-C-T | KATNAL1 | c.814G>A | p.Val272Ile | Missense | 7/11 | - |
19-18897440-T-C | COMP | c.1156A>G | p.Asn386Asp | Missense | 11/19 | - |
10-95276742-G-C | CEP55 | c.730G>C | p.Ala244Pro | Missense | 6/9 | - |
9-139815565-G-A | TRAF2 | c.1036G>A | p.Glu346Lys | Missense | 9/11 | - |
20-1292989-C-G | SDCBP2 | c.724G>C | p.Gly242Arg | Missense | 7/9 | - |
11-6631386-G-C | ILK | c.1086G>C | p.Gln362His | Missense | 12/13 | - |
20-1292989-C-T | SDCBP2 | c.724G>A | p.Gly242Arg | Missense | 7/9 | - |
2-28004583-T-C | RBKS | c.868A>G | p.Met290Val | Missense | 8/8 | - |
2-28004583-T-G | RBKS | c.868A>C | p.Met290Leu | Missense | 8/8 | - |
6-24777517-A-C | GMNN | c.43A>C | p.Asn15His | Missense | 2/7 | - |
3-183909003-G-A | ABCF3 | c.1529G>A | p.Arg510His | Missense | 16/21 | - |
13-37580280-T-G | EXOSC8 | c.373T>G | p.Cys125Gly | Missense | 7/11 | - |
4-56319244-G-A | CLOCK | c.1183C>T | p.Leu395Phe | Missense | 15/23 | - |
2-95537514-C-A | TEKT4 | c.190C>A | p.Arg64Arg | Synonymous | 1/6 | - |
19-34922797-C-T | UBA2 | c.254C>T | p.Pro85Leu | Missense | 3/17 | - |
5-137451417-T-C | NME5 | c.592A>G | p.Asn198Asp | Missense | 6/6 | - |
6-30128548-C-T | TRIM10 | c.88G>A | p.Asp30Asn | Missense | 1/7 | - |
5-639213-G-A | CEP72 | c.1216G>A | p.Gly406Arg | Missense | 8/12 | - |
19-35613689-G-C | FXYD3 | c.118G>C | p.Gly40Arg | Missense | 7/9 | - |
12-44130330-G-A | PUS7L | c.1579C>T | p.Arg527Cys | Missense | 7/9 | - |
14-68123146-C-T | VTI1B | c.527G>A | p.Arg176His | Missense | 4/6 | - |
10-17746996-T-C | STAM | c.1028T>C | p.Ile343Thr | Missense | 11/14 | - |
14-68123146-C-A | VTI1B | c.527G>T | p.Arg176Leu | Missense | 4/6 | - |
2-9728422-C-T | YWHAQ | c.454G>A | p.Ala152Thr | Missense | 4/6 | - |
2-9728422-C-A | YWHAQ | c.454G>T | p.Ala152Ser | Missense | 4/6 | - |
2-25468174-T-C | DNMT3A | c.1502A>G | p.Asn501Ser | Missense | 13/23 | - |
12-44165080-C-G | IRAK4 | c.219C>G | p.Asp73Glu | Missense | 4/13 | - |
16-30666367-C-T | PRR14 | c.1076C>T | p.Pro359Leu | Missense | 8/12 | - |
12-44165080-C-T | IRAK4 | c.219C>T | p.Asp73Asp | Synonymous | 4/13 | - |
17-49238593-C-T | NME1 | c.301C>T | p.Pro101Ser | Missense | 4/5 | - |
8-19218766-A-G | SH2D4A | c.647A>G | p.Glu216Gly | Missense | 6/10 | - |
14-93650418-C-T | MOAP1 | c.170G>A | p.Arg57Lys | Missense | 3/3 | - |
17-17924447-T-C | ATPAF2 | c.722A>G | p.Glu241Gly | Missense | 7/8 | - |
12-53345296-G-C | KRT18 | c.689G>C | p.Ser230Thr | Missense | 5/8 | - |
20-60878783-C-G | ADRM1 | c.159C>G | p.Asp53Glu | Missense | 2/9 | - |
8-117864867-A-C | RAD21 | c.1242T>G | p.Asp414Glu | Missense | 10/14 | - |
2-98264524-C-T | COX5B | c.343C>T | p.Arg115Cys | Missense | 4/4 | - |
8-117864867-A-T | RAD21 | c.1242T>A | p.Asp414Glu | Missense | 10/14 | - |
1-91989635-A-T | CDC7 | c.1368A>T | p.Gln456His | Missense | 12/12 | - |
10-21115407-C-T | NEBL | c.1838G>A | p.Arg613Gln | Missense | 18/28 | - |
12-52886513-G-A | KRT6A | c.460C>T | p.Pro154Ser | Missense | 1/9 | - |
12-52886513-G-C | KRT6A | c.460C>G | p.Pro154Ala | Missense | 1/9 | - |
9-116029710-T-A | CDC26 | c.91A>T | p.Lys31* | Nonsense | 4/4 | - |
9-116029710-T-C | CDC26 | c.91A>G | p.Lys31Glu | Missense | 4/4 | - |
13-21729883-C-G | SKA3 | c.1187G>C | p.Arg396Thr | Missense | 8/9 | - |
13-21729883-C-T | SKA3 | c.1187G>A | p.Arg396Lys | Missense | 8/9 | - |
13-21729883-C-A | SKA3 | c.1187G>T | p.Arg396Met | Missense | 8/9 | - |
5-150436503-G-C | TNIP1 | c.451C>G | p.Pro151Ala | Missense | 6/18 | - |
9-123605169-C-T | PSMD5 | c.19G>A | p.Ala7Thr | Missense | 1/10 | - |
15-57212144-A-G | TCF12 | c.33A>G | p.Ile11Met | Missense | 2/20 | - |
5-150436503-G-A | TNIP1 | c.451C>T | p.Pro151Ser | Missense | 6/18 | - |
1-152785074-G-T | LCE1B | c.152G>T | p.Cys51Phe | Missense | 1/1 | - |
1-152785074-G-A | LCE1B | c.152G>A | p.Cys51Tyr | Missense | 1/1 | - |
19-15794470-G-C | CYP4F12 | c.815G>C | p.Arg272Pro | Missense | 7/13 | - |
19-15794470-G-T | CYP4F12 | c.815G>T | p.Arg272Leu | Missense | 7/13 | - |
3-160156143-T-C | TRIM59 | c.829A>G | p.Ile277Val | Missense | 3/3 | - |
16-69905774-C-T | WWP2 | c.643C>T | p.Arg215Trp | Missense | 8/25 | - |
16-4833730-A-T | SEPT12 | c.550T>A | p.Cys184Ser | Missense | 6/10 | - |
7-87530185-C-A | DBF4 | c.916C>A | p.Leu306Ile | Missense | 10/12 | - |
19-373509-G-A | THEG | c.526C>T | p.Arg176Trp | Missense | 4/8 | - |
19-49339623-C-A | HSD17B14 | c.46G>T | p.Gly16Trp | Missense | 1/9 | - |
13-52603448-A-C | ALG11 | c.*722A>C | - | 3-UTRSNV | 4/4 | - |
X-129058882-T-C | UTP14A | c.1460T>C | p.Val487Ala | Missense | 12/15 | - |
17-66039095-C-A | KPNA2 | c.646C>A | p.Pro216Thr | Missense | 6/11 | - |
2-70064786-A-G | GMCL1 | c.368A>G | p.Lys123Arg | Missense | 2/14 | - |
6-31660879-C-A | ABHD16A | c.452G>T | p.Arg151Leu | Missense | 5/18 | - |
8-16012615-G-A | MSR1 | c.856C>T | p.Pro286Ser | Missense | 6/9 | - |
6-31660879-C-T | ABHD16A | c.452G>A | p.Arg151His | Missense | 5/18 | - |
8-144643548-C-T | GSDMD | c.691C>T | p.Leu231Phe | Missense | 6/11 | - |
8-16012615-G-T | MSR1 | c.856C>A | p.Pro286Thr | Missense | 6/9 | - |
17-7495219-T-C | FXR2 | c.1951A>G | p.Lys651Glu | Missense | 17/17 | - |
7-56084931-AAA-AAG | PSPH | c.415_417delTTTinsAAG | p.Phe139Lys | Missense | 6/8 | - |
19-55656925-G-A | TNNT1 | c.115C>T | p.Arg39Cys | Missense | 6/14 | - |
1-154938871-C-T | SHC1 | c.1106G>A | p.Arg369Gln | Missense | 8/12 | - |
9-34610830-C-T | RPP25L | c.464G>A | p.Arg155Gln | Missense | 2/2 | - |
13-28143273-G-A | LNX2 | c.548C>T | p.Thr183Ile | Missense | 3/10 | - |
3-49314128-C-T | C3orf62 | c.178G>A | p.Val60Met | Missense | 1/3 | - |
2-158980384-T-C | UPP2 | c.788T>C | p.Met263Thr | Missense | 6/7 | - |
17-48941231-A-T | TOB1 | c.148T>A | p.Tyr50Asn | Missense | 3/3 | - |
9-97369105-A-G | FBP1 | c.697T>C | p.Phe233Leu | Missense | 5/7 | - |
10-91162516-G-T | IFIT1 | c.484G>T | p.Ala162Ser | Missense | 2/2 | - |
9-97369105-A-T | FBP1 | c.697T>A | p.Phe233Ile | Missense | 5/7 | - |
9-97369105-A-C | FBP1 | c.697T>G | p.Phe233Val | Missense | 5/7 | - |
12-33031023-G-A | PKP2 | c.791C>T | p.Ala264Val | Missense | 3/14 | - |
19-50409853-C-T | IL4I1 | c.1-4879G>A | - | IntronicSNV | - | 2/9 |
15-45361173-G-A | SORD | c.709G>A | p.Glu237Lys | Missense | 7/9 | - |
8-19221784-A-C | SH2D4A | c.908A>C | p.Lys303Thr | Missense | 7/10 | - |
8-19221784-A-G | SH2D4A | c.908A>G | p.Lys303Arg | Missense | 7/10 | - |
8-124440235-C-G | WDYHV1 | c.155C>G | p.Ala52Gly | Missense | 2/6 | - |
7-102098035-G-A | ALKBH4 | c.715C>T | p.Arg239Cys | Missense | 3/3 | - |
16-4833669-C-T | SEPT12 | c.611G>A | p.Arg204Gln | Missense | 6/10 | - |
16-4833669-C-A | SEPT12 | c.611G>T | p.Arg204Leu | Missense | 6/10 | - |
19-41903142-A-G | EXOSC5 | c.92T>C | p.Phe31Ser | Missense | 1/6 | - |
9-97372293-G-T | FBP1 | c.477C>A | p.Asn159Lys | Missense | 4/7 | - |
19-7547074-A-C | PEX11G | c.273T>G | p.Cys91Trp | Missense | 3/5 | - |
9-97372293-G-C | FBP1 | c.477C>G | p.Asn159Lys | Missense | 4/7 | - |
9-18928083-G-A | SAXO1 | c.1392C>T | p.Asn464Asn | Synonymous | 4/4 | - |
18-48573454-A-G | SMAD4 | c.38A>G | p.Asn13Ser | Missense | 2/12 | - |
9-18928083-G-T | SAXO1 | c.1392C>A | p.Asn464Lys | Missense | 4/4 | - |
17-49238549-C-A | NME1 | c.257C>A | p.Thr86Lys | Missense | 4/5 | - |
7-105177041-A-T | RINT1 | c.118A>T | p.Ser40Cys | Missense | 3/15 | - |
6-28056829-A-G | ZNF165 | c.1039A>G | p.Asn347Asp | Missense | 4/4 | - |
X-1720422-C-T | ASMT | c.-68+5997C>T | - | intron_variant | - | 1/9 |
X-102334397-G-A | NXF3 | c.1225C>T | p.Arg409Trp | Missense | 15/20 | - |
17-8644901-C-A | CCDC42 | c.383G>T | p.Arg128Leu | Missense | 4/7 | - |
5-79616936-A-G | SPZ1 | c.902A>G | p.His301Arg | Missense | 1/1 | - |
17-39041052-C-T | KRT20 | c.386G>A | p.Ser129Asn | Missense | 1/8 | - |
17-34431360-C-T | CCL4 | c.62C>T | p.Ala21Val | Missense | 1/3 | - |
6-52303121-A-G | EFHC1 | c.305A>G | p.Tyr102Cys | Missense | 3/11 | - |
14-55609418-G-A | LGALS3 | c.548G>A | p.Arg183Lys | Missense | 5/6 | - |
17-73263012-C-T | MIF4GD | c.580G>A | p.Glu194Lys | Missense | 7/7 | - |
1-54477834-C-T | LDLRAD1 | c.322G>A | p.Glu108Lys | Missense | 4/6 | - |
11-59564795-G-A | STX3 | c.826G>A | p.Gly276Ser | Missense | 10/11 | - |
11-102220611-T-G | BIRC2 | c.26T>G | p.Leu9Arg | Missense | 2/9 | - |
16-72120629-G-C | TXNL4B | c.357C>G | p.Ile119Met | Missense | 4/4 | - |
6-36652129-G-A | CDKN1A | c.251G>A | p.Arg84Gln | Missense | 3/4 | - |
1-15545952-C-T | TMEM51 | c.475C>T | p.Pro159Ser | Missense | 3/3 | - |
4-186427735-G-A | PDLIM3 | c.734C>T | p.Thr245Ile | Missense | 6/8 | - |
14-54997751-C-T | CGRRF1 | c.553C>T | p.Arg185Trp | Missense | 4/6 | - |
6-159401898-C-T | RSPH3 | c.1193G>A | p.Arg398Gln | Missense | 6/8 | - |
3-184910520-T-C | EHHADH | c.1378A>G | p.Arg460Gly | Missense | 7/7 | - |
3-52019935-C-T | ACY1 | c.332C>T | p.Ala111Val | Missense | 5/15 | - |
6-31540784-C-A | LTA | c.179C>A | p.Thr60Asn | Missense | 3/4 | - |
1-38463367-C-T | FHL3 | c.677G>A | p.Arg226His | Missense | 5/6 | - |
14-105639582-T-A | NUDT14 | c.445A>T | p.Thr149Ser | Missense | 5/5 | - |
4-95496882-C-T | PDLIM5 | c.292-212C>T | - | IntronicSNV | - | 4/12 |
11-63994230-G-T | NUDT22 | c.106G>T | p.Gly36Cys | Missense | 2/6 | - |
20-9547018-C-G | PAK5 | c.1004G>C | p.Arg335Pro | Missense | 6/11 | - |
16-71606588-C-T | TAT | c.412G>A | p.Val138Ile | Missense | 5/12 | - |
12-52881524-T-C | KRT6A | c.1675A>G | p.Arg559Gly | Missense | 9/9 | - |
17-46939658-C-A | CALCOCO2 | c.1165C>A | p.Pro389Thr | Missense | 12/13 | - |
17-46939658-C-G | CALCOCO2 | c.1165C>G | p.Pro389Ala | Missense | 12/13 | - |
22-43523748-C-G | BIK | c.207C>G | p.Asp69Glu | Missense | 3/5 | - |
5-74722269-C-T | COL4A3BP | c.383G>A | p.Arg128His | Missense | 4/18 | - |
18-47908542-A-G | SKA1 | c.257A>G | p.His86Arg | Missense | 4/7 | - |
13-103346806-C-G | METTL21C | c.43G>C | p.Gly15Arg | Missense | 1/4 | - |
13-103346806-C-A | METTL21C | c.43G>T | p.Gly15Trp | Missense | 1/4 | - |
1-168206005-C-T | SFT2D2 | c.410C>T | p.Thr137Met | Missense | 6/8 | - |
1-154938871-C-A | SHC1 | c.1106G>T | p.Arg369Leu | Missense | 8/12 | - |
5-624591-C-T | CEP72 | c.409C>T | p.Arg137Cys | Missense | 4/12 | - |
16-71606588-C-A | TAT | c.412G>T | p.Val138Phe | Missense | 5/12 | - |
8-144463859-G-A | RHPN1 | c.1606G>A | p.Ala536Thr | Missense | 13/15 | - |
8-144463859-G-T | RHPN1 | c.1606G>T | p.Ala536Ser | Missense | 13/15 | - |
2-70066643-A-G | GMCL1 | c.439A>G | p.Ile147Val | Missense | 3/14 | - |
9-123675628-C-A | TRAF1 | c.683G>T | p.Arg228Leu | Missense | 5/8 | - |
22-43523748-C-T | BIK | c.207C>T | p.Asp69Asp | Synonymous | 3/5 | - |
1-60331623-G-A | HOOK1 | c.1824G>A | p.Met608Ile | Missense | 19/22 | - |
18-47908542-A-T | SKA1 | c.257A>T | p.His86Leu | Missense | 4/7 | - |
1-165397996-G-A | RXRG | c.257C>T | p.Ala86Val | Missense | 2/10 | - |
1-168206005-C-G | SFT2D2 | c.410C>G | p.Thr137Arg | Missense | 6/8 | - |
1-91973936-A-G | CDC7 | c.317A>G | p.Gln106Arg | Missense | 4/12 | - |
1-15833492-G-A | CASP9 | c.283C>T | p.Arg95Cys | Missense | 4/9 | - |
13-103346806-C-T | METTL21C | c.43G>A | p.Gly15Arg | Missense | 1/4 | - |
2-43015719-T-C | HAAO | c.109A>G | p.Ile37Val | Missense | 2/10 | - |
3-33905566-C-T | PDCD6IP | c.2204C>T | p.Ser735Leu | Missense | 16/18 | - |
15-74948200-G-T | EDC3 | c.694C>A | p.Arg232Ser | Missense | 4/7 | - |
2-27663326-G-A | NRBP1 | c.1093G>A | p.Val365Ile | Missense | 12/18 | - |
15-74948200-G-C | EDC3 | c.694C>G | p.Arg232Gly | Missense | 4/7 | - |
15-74948200-G-A | EDC3 | c.694C>T | p.Arg232Cys | Missense | 4/7 | - |
17-39525750-C-T | KRT33B | c.253G>A | p.Glu85Lys | Missense | 1/7 | - |
17-15234518-G-T | TEKT3 | c.385C>A | p.Gln129Lys | Missense | 3/9 | - |
19-17384726-G-A | BABAM1 | c.358G>A | p.Ala120Thr | Missense | 4/9 | - |
12-53700067-G-A | C12orf10 | c.728G>A | p.Arg243Gln | Missense | 5/7 | - |
6-52303291-C-T | EFHC1 | c.475C>T | p.Arg159Trp | Missense | 3/11 | - |
3-10191563-G-T | VHL | c.556G>T | p.Glu186* | Nonsense | 3/3 | - |
12-124427306-T-A | CCDC92 | c.208A>T | p.Ser70Cys | Missense | 4/5 | - |
6-52303291-C-G | EFHC1 | c.475C>G | p.Arg159Gly | Missense | 3/11 | - |
15-57554344-T-G | TCF12 | c.1448T>G | p.Leu483Arg | Missense | 16/20 | - |
17-72915673-G-C | USH1G | c.1258C>G | p.Leu420Val | Missense | 2/3 | - |
17-72915673-G-A | USH1G | c.1258C>T | p.Leu420Leu | Synonymous | 2/3 | - |
14-104026667-T-G | BAG5 | c.835A>C | p.Ile279Leu | Missense | 2/2 | - |
2-95537622-A-G | TEKT4 | c.298A>G | p.Ser100Gly | Missense | 1/6 | - |
12-3042686-G-A | TULP3 | c.799G>A | p.Gly267Ser | Missense | 7/11 | - |
12-3042686-G-T | TULP3 | c.799G>T | p.Gly267Cys | Missense | 7/11 | - |
22-43280453-G-A | PACSIN2 | c.724C>T | p.Arg242Cys | Missense | 6/11 | - |
X-140271172-A-T | LDOC1 | c.35T>A | p.Leu12His | Missense | 1/1 | - |
3-167437888-T-C | PDCD10 | c.58A>G | p.Met20Val | Missense | 3/9 | - |
17-73126653-C-T | NT5C | c.416G>A | p.Arg139Gln | Missense | 4/4 | - |
10-103310580-G-A | BTRC | c.1781G>A | p.Arg594His | Missense | 14/15 | - |
10-103310580-G-C | BTRC | c.1781G>C | p.Arg594Pro | Missense | 14/15 | - |
10-103310580-G-T | BTRC | c.1781G>T | p.Arg594Leu | Missense | 14/15 | - |
15-40557146-G-A | BUB1B-PAK6 | c.160G>A | p.Val54Met | Missense | 4/11 | - |
11-102220814-G-T | BIRC2 | c.229G>T | p.Val77Leu | Missense | 2/9 | - |
3-186572089-T-C | ADIPOQ | c.331T>C | p.Tyr111His | Missense | 3/3 | - |
17-42426587-C-T | GRN | c.55C>T | p.Arg19Trp | Missense | 2/13 | - |
3-184910133-G-T | EHHADH | c.1765C>A | p.Gln589Lys | Missense | 7/7 | - |
9-138456155-C-T | PAEP | c.376C>T | p.Gln126* | Nonsense | 4/7 | - |
2-171822603-C-T | GORASP2 | c.1118C>T | p.Ser373Phe | Missense | 10/10 | - |
17-39658806-C-T | KRT13 | c.1064G>A | p.Arg355His | Missense | 6/8 | - |
19-33701398-C-T | SLC7A10 | c.1238G>A | p.Arg413Gln | Missense | 9/11 | - |
1-155294914-T-C | RUSC1 | c.1478T>C | p.Val493Ala | Missense | 4/10 | - |
4-37592128-G-A | C4orf19 | c.451G>A | p.Ala151Thr | Missense | 3/3 | - |
15-41624579-C-G | OIP5 | c.181G>C | p.Ala61Pro | Missense | 1/5 | - |
20-57016076-G-A | VAPB | c.212-3057G>A | - | IntronicSNV | - | 2/2 |
6-41903798-C-T | CCND3 | c.759G>A | p.Glu253Glu | Synonymous | 5/5 | - |
13-37580090-C-T | EXOSC8 | c.272C>T | p.Ser91Leu | Missense | 6/11 | - |
10-81926702-G-C | ANXA11 | c.688C>G | p.Arg230Gly | Missense | 8/17 | - |
2-158991295-G-A | UPP2 | c.847G>A | p.Asp283Asn | Missense | 7/7 | - |
3-37090447-C-T | MLH1 | c.2042C>T | p.Ala681Val | Missense | 18/19 | - |
12-53039173-G-C | KRT2 | c.1550C>G | p.Ala517Gly | Missense | 9/9 | - |
12-10223961-G-A | CLEC1A | c.814C>T | p.Pro272Ser | Missense | 6/6 | - |
8-144644666-A-G | GSDMD | c.1187A>G | p.Gln396Arg | Missense | 10/11 | - |
6-42930887-C-A | GNMT | c.529C>A | p.His177Asn | Missense | 4/6 | - |
9-138456155-C-A | PAEP | c.376C>A | p.Gln126Lys | Missense | 4/7 | - |
18-52586545-A-G | CCDC68 | c.746T>C | p.Val249Ala | Missense | 9/12 | - |
2-175939488-G-C | ATF2 | c.1367C>G | p.Ser456Trp | Missense | 14/14 | - |
12-3043690-C-A | TULP3 | c.887C>A | p.Ala296Glu | Missense | 8/11 | - |
22-21991072-T-C | CCDC116 | c.1555T>C | p.Cys519Arg | Missense | 5/5 | - |
1-155296892-G-A | RUSC1 | c.2383G>A | p.Ala795Thr | Missense | 8/10 | - |
7-56082857-ATA-AAG | PSPH | c.427_429delTATinsAAG | p.Tyr143Lys | Missense | 7/8 | - |
17-44249199-T-A | KANSL1 | c.311A>T | p.Lys104Met | Missense | 2/15 | - |
19-41892582-G-A | EXOSC5 | c.664C>T | p.Arg222Cys | Missense | 6/6 | - |
6-159398803-C-T | RSPH3 | c.1450G>A | p.Glu484Lys | Missense | 8/8 | - |
6-159398803-C-A | RSPH3 | c.1450G>T | p.Glu484* | Nonsense | 8/8 | - |
19-33701398-C-G | SLC7A10 | c.1238G>C | p.Arg413Pro | Missense | 9/11 | - |
13-48807588-C-G | ITM2B | c.92C>G | p.Pro31Arg | Missense | 1/6 | - |
1-169823718-T-A | SCYL3 | c.1862A>T | p.Gln621Leu | Missense | 13/14 | - |
1-169823718-T-C | SCYL3 | c.1862A>G | p.Gln621Arg | Missense | 13/14 | - |
11-6500093-G-A | ARFIP2 | c.412C>T | p.Arg138Cys | Missense | 5/8 | - |
19-34942921-C-T | UBA2 | c.907C>T | p.Pro303Ser | Missense | 10/17 | - |
4-4304443-T-C | ZBTB49 | c.880T>C | p.Cys294Arg | Missense | 3/8 | - |
2-95542417-T-C | TEKT4 | c.1211T>C | p.Ile404Thr | Missense | 6/6 | - |
6-41903798-C-G | CCND3 | c.759G>C | p.Glu253Asp | Missense | 5/5 | - |
6-41903798-C-A | CCND3 | c.759G>T | p.Glu253Asp | Missense | 5/5 | - |
7-123152019-C-T | IQUB | c.376G>A | p.Val126Met | Missense | 2/13 | - |
1-230824279-G-A | COG2 | c.1765G>A | p.Val589Ile | Missense | 15/18 | - |
11-65715021-C-T | TSGA10IP | c.725C>T | p.Ser242Leu | Missense | 3/8 | - |
1-230824279-G-C | COG2 | c.1765G>C | p.Val589Leu | Missense | 15/18 | - |
21-46387009-C-T | FAM207A | c.413C>T | p.Thr138Met | Missense | 4/6 | - |
7-72755347-C-A | FKBP6 | c.859C>A | p.His287Asn | Missense | 7/9 | - |
4-4304522-A-C | ZBTB49 | c.959A>C | p.Tyr320Ser | Missense | 3/8 | - |
19-33702432-C-T | SLC7A10 | c.800G>A | p.Arg267His | Missense | 6/11 | - |
1-16096973-A-G | FBLIM1 | c.611A>G | p.Tyr204Cys | Missense | 5/6 | - |
7-25182405-G-T | C7orf31 | c.713C>A | p.Pro238Gln | Missense | 8/10 | - |
18-44560300-C-T | ELOA2 | c.1336G>A | p.Ala446Thr | Missense | 1/1 | - |
18-48584802-A-G | SMAD4 | c.880A>G | p.Met294Val | Missense | 7/12 | - |
1-246784899-A-G | CNST | c.548A>G | p.Gln183Arg | Missense | 3/11 | - |
2-158974403-G-A | UPP2 | c.407G>A | p.Arg136Gln | Missense | 4/7 | - |
2-158974403-G-C | UPP2 | c.407G>C | p.Arg136Pro | Missense | 4/7 | - |
4-166150008-T-G | KLHL2 | c.214T>G | p.Ser72Ala | Missense | 3/15 | - |
16-30393481-T-A | SEPT1 | c.129A>T | p.Lys85Asn | Missense | 4/12 | - |
16-30393481-T-G | SEPT1 | c.255A>C | p.Lys85Asn | Missense | 4/12 | - |
11-59560904-C-T | STX3 | c.592C>T | p.His198Tyr | Missense | 8/11 | - |
16-5140541-G-C | EEF2KMT | c.368C>G | p.Ser123Cys | Missense | 5/8 | - |
1-171076966-G-A | FMO3 | c.472G>A | p.Glu158Lys | Missense | 4/9 | - |
11-102248377-C-T | BIRC2 | c.1517C>T | p.Ala506Val | Missense | 7/9 | - |
13-52439732-G-A | CCDC70 | c.185G>A | - | missense_variant | 2/2 | - |
1-15833506-C-T | CASP9 | c.269G>A | p.Arg90His | Missense | 4/9 | - |
1-15833506-C-G | CASP9 | c.269G>C | p.Arg90Pro | Missense | 4/9 | - |
12-50848116-G-C | LARP4 | c.1037G>C | p.Ser346Thr | Missense | 10/16 | - |
7-99621814-G-C | ZKSCAN1 | c.464G>C | p.Arg155Thr | Missense | 3/6 | - |
4-124322817-G-A | SPRY1 | c.71G>A | p.Arg24His | Missense | 3/3 | - |
19-36530332-G-A | THAP8 | c.565C>T | p.Arg189Trp | Missense | 3/4 | - |
10-48370747-C-T | ZNF488 | c.215C>T | p.Ala72Val | Missense | 2/2 | - |
12-88380094-T-C | C12orf50 | c.917A>G | p.Gln306Arg | Missense | 10/13 | - |
17-37901172-C-T | GRB7 | c.946C>T | p.Arg316Trp | Missense | 9/15 | - |
1-229438687-G-A | RAB4A | c.620G>A | p.Arg207His | Missense | 7/8 | - |
1-40137610-T-C | NT5C1A | c.101A>G | p.Tyr34Cys | Missense | 1/6 | - |
1-110282511-A-G | GSTM3 | c.68T>C | p.Leu23Pro | Missense | 3/9 | - |
7-148950895-C-T | ZNF212 | c.877C>T | p.His293Tyr | Missense | 5/5 | - |
5-74990645-T-C | POC5 | c.450A>G | p.Ile150Met | Missense | 5/11 | - |
1-15832495-T-G | CASP9 | c.461A>C | p.His154Pro | Missense | 5/9 | - |
15-34635241-C-G | NOP10 | c.34G>C | p.Asp12His | Missense | 1/2 | - |
9-131897161-A-C | PTPA | c.548A>C | p.Lys183Thr | Missense | 7/11 | - |
21-44273831-C-T | WDR4 | c.820G>A | p.Ala274Thr | Missense | 9/11 | - |
19-10677874-C-A | CDKN2D | c.361G>T | p.Ala121Ser | Missense | 3/3 | - |
19-41704370-G-A | CYP2S1 | c.497G>A | p.Arg166His | Missense | 4/9 | - |
3-49314110-T-G | C3orf62 | c.196A>C | p.Arg66Arg | Synonymous | 1/3 | - |
3-49314110-T-C | C3orf62 | c.196A>G | p.Arg66Gly | Missense | 1/3 | - |
16-71609894-G-C | TAT | c.271C>G | p.Pro91Ala | Missense | 3/12 | - |
19-44571050-T-G | ZNF223 | c.1069T>G | p.Ser357Ala | Missense | 5/5 | - |
18-44560143-C-T | ELOA2 | c.1493G>A | p.Arg498Gln | Missense | 1/1 | - |
19-49339098-T-C | HSD17B14 | c.91A>G | p.Asn31Asp | Missense | 2/9 | - |
10-102295836-C-G | HIF1AN | c.121C>G | p.Pro41Ala | Missense | 1/8 | - |
7-142989780-G-A | CASP2 | c.464G>A | p.Arg155His | Missense | 4/11 | - |
5-74986278-C-T | POC5 | c.830G>A | p.Arg277Lys | Missense | 7/11 | - |
1-156256257-G-A | TMEM79 | c.964G>A | p.Val322Ile | Missense | 3/4 | - |
12-12871237-C-G | CDKN1B | c.464C>G | p.Pro155Arg | Missense | 1/3 | - |
1-151141485-G-C | SCNM1 | c.617G>C | p.Arg206Pro | Missense | 7/7 | - |
7-99621814-G-A | ZKSCAN1 | c.464G>A | p.Arg155Lys | Missense | 3/6 | - |
9-97082748-G-T | NUTM2F | c.1110C>A | p.Asn370Lys | Missense | 5/7 | - |
9-97082748-G-C | NUTM2F | c.1110C>G | p.Asn370Lys | Missense | 5/7 | - |
9-97082748-G-A | NUTM2F | c.1110C>T | p.Asn370Asn | Synonymous | 5/7 | - |
12-110032921-G-A | MVK | c.974G>A | p.Arg325His | Missense | 10/11 | - |
7-92404051-C-T | CDK6 | c.328G>A | p.Asp110Asn | Missense | 3/8 | - |
3-58552329-C-G | FAM107A | c.421G>C | p.Glu141Gln | Missense | 5/5 | - |
15-45361227-G-T | SORD | c.763G>T | p.Ala255Ser | Missense | 7/9 | - |
15-45361227-G-A | SORD | c.763G>A | p.Ala255Thr | Missense | 7/9 | - |
10-70048739-T-C | PBLD | c.461A>G | p.Tyr154Cys | Missense | 7/10 | - |
X-129054446-G-A | UTP14A | c.766G>A | p.Val256Met | Missense | 9/15 | - |
22-37158985-G-A | IFT27 | c.422C>T | p.Ala141Val | Missense | 6/7 | - |
17-15231385-C-T | TEKT3 | c.587G>A | p.Arg196Gln | Missense | 4/9 | - |
8-26492404-G-T | DPYSL2 | c.799G>T | p.Ala267Ser | Missense | 8/14 | - |
1-233802497-G-T | KCNK1 | c.512G>T | p.Arg171Leu | Missense | 2/3 | - |
16-30364712-G-A | CD2BP2 | c.785C>T | p.Thr262Ile | Missense | 5/7 | - |
1-15545913-A-G | TMEM51 | c.436A>G | p.Arg146Gly | Missense | 3/3 | - |
5-145442133-G-C | SH3RF2 | c.2059G>C | p.Val687Leu | Missense | 10/10 | - |
5-145442133-G-A | SH3RF2 | c.2059G>A | p.Val687Ile | Missense | 10/10 | - |
9-123675733-T-C | TRAF1 | c.578A>G | p.Lys193Arg | Missense | 5/8 | - |
12-124114804-A-G | EIF2B1 | c.281T>C | p.Ile94Thr | Missense | 4/9 | - |
1-20915731-C-A | CDA | c.109C>A | p.Pro37Thr | Missense | 1/4 | - |
19-367089-G-A | THEG | c.889C>T | p.His297Tyr | Missense | 7/8 | - |
8-95272605-G-C | GEM | c.127C>G | p.Arg43Gly | Missense | 2/5 | - |
17-42429839-G-C | GRN | c.1544G>C | p.Gly515Ala | Missense | 12/13 | - |
9-18941703-T-C | SAXO1 | c.353A>G | p.Asp118Gly | Missense | 3/4 | - |
17-7529902-G-A | SAT2 | c.376C>T | p.Arg126Cys | Missense | 6/6 | - |
1-227152821-G-T | COQ8A | c.298G>T | p.Asp100Tyr | Missense | 3/15 | - |
11-64807235-C-T | SNX15 | c.1000C>T | p.Arg334Cys | Missense | 8/8 | - |
17-39135207-A-G | KRT40 | c.1045T>C | p.Cys349Arg | Missense | 8/9 | - |
16-69942692-C-T | WWP2 | c.943C>T | p.Arg315Cys | Missense | 10/25 | - |
2-95537568-C-A | TEKT4 | c.244C>A | p.Arg82Ser | Missense | 1/6 | - |
10-95441272-G-A | FRA10AC1 | c.752C>T | p.Ser251Phe | Missense | 11/14 | - |
7-127224417-C-G | GCC1 | c.820G>C | p.Ala274Pro | Missense | 1/2 | - |
20-61869789-A-G | BIRC7 | c.491A>G | p.His164Arg | Missense | 3/7 | - |
10-6152057-C-T | RBM17 | c.671C>T | p.Thr224Ile | Missense | 7/12 | - |
7-87537188-A-G | DBF4 | c.1735A>G | p.Lys579Glu | Missense | 12/12 | - |
14-75746805-A-G | FOS | c.367A>G | p.Ile123Val | Missense | 2/4 | - |
19-48789063-A-T | ZNF114 | c.182A>T | p.Asp61Val | Missense | 6/6 | - |
21-40800371-C-T | LCA5L | c.49G>A | p.Gly17Ser | Missense | 4/10 | - |
7-5567417-C-T | ACTB | c.1090G>A | p.Glu364Lys | Missense | 6/6 | - |
21-44480591-G-A | CBS | c.1105C>T | p.Arg369Cys | Missense | 12/17 | - |
1-60309107-A-G | HOOK1 | c.625A>G | p.Thr209Ala | Missense | 9/22 | - |
3-128204951-C-T | GATA2 | c.490G>A | p.Ala164Thr | Missense | 3/6 | - |
11-103907809-C-A | DDI1 | c.259C>A | p.Arg87Ser | Missense | 1/1 | - |
1-227152821-G-A | COQ8A | c.298G>A | p.Asp100Asn | Missense | 3/15 | - |
17-40926690-A-G | VPS25 | c.226A>G | p.Ile76Val | Missense | 3/6 | - |
4-124323633-G-A | SPRY1 | c.887G>A | p.Arg296Lys | Missense | 3/3 | - |
2-95537568-C-T | TEKT4 | c.244C>T | p.Arg82Cys | Missense | 1/6 | - |
1-203054944-G-T | MYOG | c.146C>A | p.Pro49His | Missense | 1/3 | - |
11-61674027-A-G | RAB3IL1 | c.568T>C | p.Ser190Pro | Missense | 5/10 | - |
1-24125170-G-T | GALE | c.172C>A | p.Arg58Ser | Missense | 4/12 | - |
7-27135238-G-T | HOXA1 | c.294C>A | p.Ser98Arg | Missense | 1/2 | - |
7-127224417-C-T | GCC1 | c.820G>A | p.Ala274Thr | Missense | 1/2 | - |
17-38510699-C-G | RARA | c.953C>G | p.Pro318Arg | Missense | 7/9 | - |
13-48833078-T-C | ITM2B | c.710T>C | p.Ile237Thr | Missense | 5/6 | - |
17-38510699-C-A | RARA | c.953C>A | p.Pro318His | Missense | 7/9 | - |
2-208477802-C-G | METTL21A | c.625G>C | p.Ala209Pro | Missense | 4/4 | - |
17-79986156-C-T | LRRC45 | c.1094C>T | p.Ala365Val | Missense | 10/17 | - |
7-5567417-C-G | ACTB | c.1090G>C | p.Glu364Gln | Missense | 6/6 | - |
16-89971453-T-C | TCF25 | c.1577T>C | p.Val526Ala | Missense | 14/18 | - |
5-94989878-A-C | RFESD | c.113A>C | p.Asp38Ala | Missense | 3/5 | - |
3-119222842-C-A | TIMMDC1 | c.491C>A | p.Ala164Asp | Missense | 4/7 | - |
1-20931448-C-T | CDA | c.182C>T | p.Pro61Leu | Missense | 2/4 | - |
8-95272605-G-A | GEM | c.127C>T | p.Arg43Cys | Missense | 2/5 | - |
6-42930812-G-A | GNMT | c.454G>A | p.Asp152Asn | Missense | 4/6 | - |
11-1298430-C-T | TOLLIP | c.664G>A | p.Ala222Thr | Missense | 6/6 | - |
11-1298430-C-A | TOLLIP | c.664G>T | p.Ala222Ser | Missense | 6/6 | - |
12-52881544-G-C | KRT6A | c.1655C>G | p.Thr552Ser | Missense | 9/9 | - |
3-167184878-T-C | SERPINI2 | c.443A>G | p.Glu148Gly | Missense | 3/9 | - |
1-52492993-G-A | TXNDC12 | c.239C>T | p.Thr80Met | Missense | 4/7 | - |
9-97367746-T-C | FBP1 | c.818A>G | p.Asn273Ser | Missense | 6/7 | - |
1-26369919-G-A | SLC30A2 | c.395C>T | p.Thr132Met | Missense | 3/7 | - |
3-183963381-T-C | ALG3 | c.319A>G | p.Ile107Val | Missense | 3/9 | - |
1-11115941-C-T | SRM | c.662G>A | p.Arg221Gln | Missense | 6/8 | - |
6-122733526-A-C | HSF2 | c.102A>C | p.Gln34His | Missense | 2/13 | - |
19-49337604-G-C | HSD17B14 | c.139C>G | p.Arg47Gly | Missense | 3/9 | - |
19-49337604-G-A | HSD17B14 | c.139C>T | p.Arg47Trp | Missense | 3/9 | - |
22-43287153-C-T | PACSIN2 | c.253G>A | p.Ala85Thr | Missense | 4/11 | - |
7-99171127-T-G | ZNF655 | c.1396T>G | p.Cys466Gly | Missense | 3/3 | - |
15-74925233-T-G | EDC3 | c.1247A>C | p.Asn416Thr | Missense | 7/7 | - |
20-60878783-C-T | ADRM1 | c.159C>T | p.Asp53Asp | Synonymous | 2/9 | - |
14-23828893-G-C | EFS | c.287C>G | p.Ser96Cys | Missense | 4/6 | - |
14-23828893-G-A | EFS | c.287C>T | p.Ser96Phe | Missense | 4/6 | - |
17-7137424-G-A | DVL2 | c.158C>T | p.Ala53Val | Missense | 1/15 | - |
2-220367140-G-A | GMPPA | c.466G>A | p.Val156Ile | Missense | 6/13 | - |
2-73868328-A-G | NAT8 | c.428T>C | p.Phe143Ser | Missense | 2/2 | - |
X-1714407-G-A | ASMT | c.-86G>A | - | 5_prime_UTR_variant | 1/10 | - |
4-110610604-T-G | CASP6 | c.764A>C | p.Lys255Thr | Missense | 7/7 | - |
16-71603792-G-A | TAT | c.1090C>T | p.Arg364Trp | Missense | 10/12 | - |
1-182354972-C-A | GLUL | c.526G>T | p.Val176Leu | Missense | 6/8 | - |
12-44180295-G-A | IRAK4 | c.1282G>A | p.Ala428Thr | Missense | 12/13 | - |
1-1686081-G-C | NADK | c.745C>G | p.Arg249Gly | Missense | 8/12 | - |
6-159407447-G-A | RSPH3 | c.637C>T | p.Arg213Trp | Missense | 3/8 | - |
6-26271230-G-C | HIST1H3G | c.383C>G | p.Ala128Gly | Missense | 1/1 | - |
3-25781075-A-G | NGLY1 | c.874T>C | p.Phe292Leu | Missense | 5/12 | - |
6-30126225-A-G | TRIM10 | c.707T>C | p.Ile236Thr | Missense | 3/7 | - |
7-56088812-C-T | PSPH | c.94G>A | p.Asp32Asn | Missense | 4/8 | - |
13-25876011-G-A | NUP58 | c.100G>A | p.Ala34Thr | Missense | 1/15 | - |
19-34942921-C-A | UBA2 | c.907C>A | p.Pro303Thr | Missense | 10/17 | - |
17-7216780-C-T | GPS2 | c.643G>A | p.Ala215Thr | Missense | 8/11 | - |
8-11157617-C-T | MTMR9 | c.377C>T | p.Ser126Phe | Missense | 3/10 | - |
5-82406873-G-A | XRCC4 | c.166G>A | p.Ala56Thr | Missense | 3/8 | - |
11-65713221-C-G | TSGA10IP | c.75C>G | p.Asp25Glu | Missense | 1/8 | - |
11-65713221-C-T | TSGA10IP | c.75C>T | p.Asp25Asp | Synonymous | 1/8 | - |
10-135051543-T-C | VENTX | c.125T>C | p.Leu42Pro | Missense | 1/3 | - |
10-135051543-T-G | VENTX | c.125T>G | p.Leu42Arg | Missense | 1/3 | - |
8-11157617-C-G | MTMR9 | c.377C>G | p.Ser126Cys | Missense | 3/10 | - |
2-70057206-A-G | GMCL1 | c.182A>G | p.Tyr61Cys | Missense | 1/14 | - |
17-15217437-C-G | TEKT3 | c.845G>C | p.Gly282Ala | Missense | 6/9 | - |
11-65714940-T-G | TSGA10IP | c.644T>G | p.Val215Gly | Missense | 3/8 | - |
11-65714940-T-C | TSGA10IP | c.644T>C | p.Val215Ala | Missense | 3/8 | - |
12-54394337-C-T | HOXC9 | c.365C>T | p.Ala122Val | Missense | 1/2 | - |
X-38156677-C-T | RPGR | c.1274G>A | p.Arg425Lys | Missense | 11/19 | - |
X-152159208-C-T | PNMA5 | c.935G>A | p.Arg312Gln | Missense | 2/2 | - |
14-65007898-G-C | HSPA2 | c.331G>C | p.Glu111Gln | Missense | 1/1 | - |
3-37053550-G-A | MLH1 | c.637G>A | p.Val213Met | Missense | 8/19 | - |
11-119989017-G-A | TRIM29 | c.1541C>T | p.Ser514Phe | Missense | 7/9 | - |
11-111942004-G-T | PIH1D2 | c.305C>A | p.Ala102Asp | Missense | 4/6 | - |
2-39006206-G-C | GEMIN6 | c.74G>C | p.Ser25Thr | Missense | 2/3 | - |
14-105639591-C-T | NUDT14 | c.436G>A | p.Val146Met | Missense | 5/5 | - |
19-44611654-G-A | ZNF224 | c.1341G>A | p.Gln447Gln | Synonymous | 6/6 | - |
9-123675634-C-T | TRAF1 | c.677G>A | p.Arg226His | Missense | 5/8 | - |
12-6437037-G-A | PLEKHG6 | c.2288G>A | p.Arg763Gln | Missense | 15/16 | - |
5-162902516-T-C | HMMR | c.1103T>C | p.Val368Ala | Missense | 11/18 | - |
11-33796016-G-A | FBXO3 | c.28C>T | p.Pro10Ser | Missense | 1/11 | - |
3-49866894-C-A | TRAIP | c.1284G>T | p.Gln428His | Missense | 14/15 | - |
X-151092258-C-T | MAGEA4 | c.122C>T | p.Ser41Phe | Missense | 3/3 | - |
17-66521899-A-G | PRKAR1A | c.554A>G | p.Tyr185Cys | Missense | 8/12 | - |
20-44757524-C-T | CD40 | c.679C>T | p.Pro227Ser | Missense | 9/9 | - |
20-44757524-C-G | CD40 | c.679C>G | p.Pro227Ala | Missense | 9/9 | - |
1-203054651-G-A | MYOG | c.439C>T | p.Arg147Cys | Missense | 1/3 | - |
3-10191563-G-A | VHL | c.556G>A | p.Glu186Lys | Missense | 3/3 | - |
6-159399348-A-G | RSPH3 | c.1316T>C | p.Met439Thr | Missense | 7/8 | - |
15-57213240-T-A | TCF12 | c.92T>A | p.Val31Asp | Missense | 3/20 | - |
17-7129898-G-A | DVL2 | c.1604C>T | p.Thr535Ile | Missense | 14/15 | - |
5-78417158-G-C | BHMT | c.595G>C | p.Gly199Arg | Missense | 5/8 | - |
6-159398700-C-T | RSPH3 | c.1553G>A | p.Gly518Asp | Missense | 8/8 | - |
13-52603241-A-G | ALG11 | c.*515A>G | - | 3-UTRSNV | 4/4 | - |
19-48789951-A-C | ZNF114 | c.1070A>C | p.Gln357Pro | Missense | 6/6 | - |
12-44130330-G-T | PUS7L | c.1579C>A | p.Arg527Ser | Missense | 7/9 | - |
11-77931466-C-A | GAB2 | c.1786G>T | p.Val596Phe | Missense | 9/10 | - |
10-70044031-T-A | PBLD | c.770A>T | p.His257Leu | Missense | 10/10 | - |
15-57213240-T-C | TCF12 | c.92T>C | p.Val31Ala | Missense | 3/20 | - |
1-156255456-G-A | TMEM79 | c.439G>A | p.Val147Met | Missense | 2/4 | - |
13-30054431-C-A | MTUS2 | c.3329C>A | - | missense_variant | 8/14 | - |
X-37961637-T-C | SYTL5 | c.1105T>C | p.Ser369Pro | Missense | 10/17 | - |
13-30054431-C-T | MTUS2 | c.3329C>T | - | missense_variant | 8/14 | - |
22-43289562-C-T | PACSIN2 | c.118G>A | p.Asp40Asn | Missense | 3/11 | - |
21-44485379-G-A | CBS | c.670C>T | p.Arg224Cys | Missense | 8/17 | - |
17-44248837-T-C | KANSL1 | c.673A>G | p.Asn225Asp | Missense | 2/15 | - |
1-169953815-A-C | KIFAP3 | c.1301T>G | p.Phe434Cys | Missense | 12/20 | - |
16-71602132-A-G | TAT | c.1280T>C | p.Met427Thr | Missense | 12/12 | - |
2-198646549-G-T | BOLL | c.26C>A | p.Ser9Tyr | Missense | 2/11 | - |
4-4322624-C-G | ZBTB49 | c.1879C>G | p.Pro627Ala | Missense | 8/8 | - |
17-42985473-T-C | GFAP | c.1216A>G | p.Arg406Gly | Missense | 8/9 | - |
X-153609400-G-A | EMD | c.608G>A | p.Arg203His | Missense | 6/6 | - |
3-53326488-G-T | DCP1A | c.994C>A | p.Pro332Thr | Missense | 7/10 | - |
2-106002865-C-A | FHL2 | c.109G>T | p.Ala37Ser | Missense | 3/7 | - |
7-75189125-T-C | HIP1 | c.1286A>G | p.Asp429Gly | Missense | 14/31 | - |
6-97051559-G-T | FHL5 | c.70G>T | p.Asp24Tyr | Missense | 3/7 | - |
6-97051559-G-A | FHL5 | c.70G>A | p.Asp24Asn | Missense | 3/7 | - |
15-40512818-A-G | BUB1B-PAK6 | c.-201+2950A>G | - | intron_variant | - | 1/10 |
9-139820231-G-A | TRAF2 | c.1384G>A | p.Asp462Asn | Missense | 11/11 | - |
12-102455044-A-T | WASHC3 | c.132T>A | p.Phe44Leu | Missense | 2/7 | - |
12-3043690-C-T | TULP3 | c.887C>T | p.Ala296Val | Missense | 8/11 | - |
9-97369149-C-T | FBP1 | c.653G>A | p.Arg218Lys | Missense | 5/7 | - |
2-106002865-C-T | FHL2 | c.109G>A | p.Ala37Thr | Missense | 3/7 | - |