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SKG-IIIa - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

980 mutations reported
360 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
RDH13ENSG00000160439ENST00000415061p.S173Lc.518C>TSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.F1842Fc.5526C>TSubstitution - coding silent
HMOX2ENSG00000103415ENST00000219700p.R87Hc.260G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.?c.1794+3G>AUnknown
FBXO41ENSG00000163013ENST00000295133p.E560*c.1678G>TSubstitution - Nonsense
EXOC6BENSG00000144036ENST00000272427p.D371Dc.1113T>CSubstitution - coding silent
EPM2AIP1ENSG00000178567ENST00000322716p.V193Vc.579C>GSubstitution - coding silent
FBXO30ENSG00000118496ENST00000237281p.M643Ic.1929G>TSubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.E385Gc.1154A>GSubstitution - Missense
LHFPL5ENSG00000197753ENST00000373853p.A102Dc.305C>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.M638Tc.1913T>CSubstitution - Missense
NFATC1ENSG00000131196ENST00000329101p.?c.1348-10C>GUnknown
ARAP3ENSG00000120318ENST00000239440p.S1426Cc.4277C>GSubstitution - Missense
CAPNS1ENSG00000126247ENST00000246533p.L209Lc.627C>GSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
USE1ENSG00000053501ENST00000263897p.Q210*c.628C>TSubstitution - Nonsense
LIPEENSG00000079435ENST00000244289p.E617Qc.1849G>CSubstitution - Missense
ENST00000294635_v70p.A76Ac.228C>TSubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.S29Cc.86C>GSubstitution - Missense
CDKL3ENSG00000006837ENST00000521118p.R329Ic.986G>TSubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.K650Ec.1948A>GSubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.L18Mc.52C>ASubstitution - Missense
BOCENSG00000144857ENST00000355385p.T5Tc.15G>ASubstitution - coding silent
SGSM3ENSG00000100359ENST00000248929p.E33Ec.99G>ASubstitution - coding silent
CSNK1A1ENSG00000113712ENST00000377843p.I173Tc.518T>CSubstitution - Missense
ENST00000397266p.E550Kc.1648G>ASubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.P639Lc.1916C>TSubstitution - Missense
BCCIPENSG00000107949ENST00000368759p.Y219Hc.655T>CSubstitution - Missense
PTK2ENSG00000169398ENST00000340930p.L1059Pc.3176T>CSubstitution - Missense
NBPF14ENSG00000122497ENST00000310701p.?c.1023+5G>CUnknown
ENST00000303648p.Q174Qc.522G>ASubstitution - coding silent
SPAG9ENSG00000008294ENST00000505279p.Q967Ec.2899C>GSubstitution - Missense
TACC1ENSG00000147526ENST00000443286p.L753Fc.2257C>TSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.R221Qc.662G>ASubstitution - Missense
ZNF641ENSG00000167528ENST00000448928p.E140Qc.418G>CSubstitution - Missense
BCCIPENSG00000107949ENST00000278100p.Y219Hc.655T>CSubstitution - Missense
SCYL2ENSG00000136021ENST00000360820p.M256Tc.767T>CSubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.M16fs*5c.45_46insAInsertion - Frameshift
CD101ENSG00000134256ENST00000369470p.L763fs*5c.2284_2285insAAInsertion - Frameshift
SCNN1DENSG00000162572ENST00000338555p.R564Qc.1691G>ASubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.M439Ic.1317G>ASubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.H2278Dc.6832C>GSubstitution - Missense
PNNENSG00000100941ENST00000216832p.D127Dc.381C>TSubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379409p.?c.732+10G>AUnknown
CDRT1ENSG00000241322ENST00000395906p.M1Vc.1A>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000381861p.D354Nc.1060G>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.P1878Pc.5634T>ASubstitution - coding silent
NRROSENSG00000174004ENST00000328557p.L117Lc.351C>TSubstitution - coding silent
RTEL1ENSG00000258366ENST00000370018p.?c.1722+3G>AUnknown
XM_291345.2p.T1070Ic.3209C>TSubstitution - Missense
TRIM7ENSG00000146054ENST00000274773p.?c.989-1G>AUnknown
AIMP2ENSG00000106305ENST00000223029p.R257Hc.770G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.V197Mc.589G>ASubstitution - Missense
SRRTENSG00000087087ENST00000347433p.G332Gc.996G>ASubstitution - coding silent
PRDM13ENSG00000112238ENST00000369214p.K660Ec.1978A>GSubstitution - Missense
TLR3ENSG00000164342ENST00000296795p.D366Nc.1096G>ASubstitution - Missense
CDK20ENSG00000156345ENST00000325303p.M58Ic.174G>CSubstitution - Missense
NOL7ENSG00000225921ENST00000451315p.F105Fc.315C>TSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
HIST1H2AGENSG00000196787ENST00000359193p.R18Rc.54C>TSubstitution - coding silent
CPN2ENSG00000178772ENST00000323830p.R541Rc.1623G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.V173Lc.517G>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R273Hc.818G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R2217Hc.6650G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.V191Mc.571G>ASubstitution - Missense
ENST00000377653p.D118Dc.354C>TSubstitution - coding silent
PRLRENSG00000113494ENST00000231423p.P269Pc.807G>ASubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.R109Sc.325C>ASubstitution - Missense
TAS2R7ENSG00000121377ENST00000240687p.I111Mc.333A>GSubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.Q420*c.1258C>TSubstitution - Nonsense
SSR2ENSG00000163479ENST00000295702p.N88Dc.262A>GSubstitution - Missense
PRPF40BENSG00000110844ENST00000380281p.E384Qc.1150G>CSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.R804Rc.2412G>ASubstitution - coding silent
SLC22A24ENSG00000197658ENST00000417740p.A193Tc.577G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.Q359Hc.1077G>CSubstitution - Missense
NM_006312.2p.Q508_Q510delQQQc.1523_1531delAGCAGCAGCDeletion - In frame
CYB561D1ENSG00000174151ENST00000420578p.C169Rc.505T>CSubstitution - Missense
EFCAB11ENSG00000140025ENST00000316738p.E153Kc.457G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.M4436Ic.13308G>CSubstitution - Missense
DRP2ENSG00000102385ENST00000402866p.S886Sc.2658T>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.G29Vc.86G>TSubstitution - Missense
C21orf62ENSG00000205929ENST00000536776p.T97Tc.291G>ASubstitution - coding silent
AURKBENSG00000178999ENST00000585124p.P325Pc.975T>CSubstitution - coding silent
HIRAENSG00000100084ENST00000263208p.V155Vc.465C>TSubstitution - coding silent
BMPR2ENSG00000204217ENST00000374580p.N55Nc.165T>CSubstitution - coding silent
ENST00000375935p.?c.16-8C>TUnknown
KIAA0195ENSG00000177728ENST00000314256p.F647Lc.1941C>GSubstitution - Missense
IQCJENSG00000214216ENST00000451172p.?c.156-3C>TUnknown
TRIM36ENSG00000152503ENST00000282369p.F303Sc.908T>CSubstitution - Missense
IQSEC2ENSG00000124313ENST00000396435p.T1073Ic.3218C>TSubstitution - Missense
SU_SK681p.S1091Lc.3272C>TSubstitution - Missense
HOXA1ENSG00000105991ENST00000343060p.H72_R73insHc.191_192insCCAInsertion - In frame
EPB41L5ENSG00000115109ENST00000443124p.W461Cc.1383G>CSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.?c.1811-9C>GUnknown
RAD17ENSG00000152942ENST00000509734p.R251Qc.752G>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.S675Fc.2024C>TSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.V66Vc.198G>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000378125p.S506Nc.1517G>ASubstitution - Missense
FAM129BENSG00000136830ENST00000373312p.R214Hc.641G>ASubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.Q608*c.1822C>TSubstitution - Nonsense
NBPF14ENSG00000122497ENST00000369219p.?c.1006+5G>CUnknown
COASYENSG00000068120ENST00000590958p.L444Vc.1330C>GSubstitution - Missense
PROCENSG00000115718ENST00000453608p.K248delKc.737_739delAGADeletion - In frame
TUT1ENSG00000149016ENST00000308436p.R613Qc.1838G>ASubstitution - Missense
NUP133ENSG00000069248ENST00000261396p.L155Lc.465A>GSubstitution - coding silent
ENST00000256007p.S52*c.155C>GSubstitution - Nonsense
CATSPER1ENSG00000175294ENST00000312106p.?c.1928-8C>TUnknown
NIT1ENSG00000158793ENST00000368009p.E45Ac.134A>CSubstitution - Missense
CUL5ENSG00000166266ENST00000393094p.T623Tc.1869T>ASubstitution - coding silent
COLGALT2ENSG00000198756ENST00000361927p.?c.832+10G>CUnknown
HOXB3ENSG00000120093ENST00000311626p.P284Sc.850C>TSubstitution - Missense
IL23RENSG00000162594ENST00000347310p.P443Sc.1327C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S4004Ac.12010T>GSubstitution - Missense
ZNF700ENSG00000196757ENST00000254321p.H408Nc.1222C>ASubstitution - Missense
ENST00000405167p.A2534Dc.7601C>ASubstitution - Missense
ZNF773ENSG00000152439ENST00000282292p.N111Kc.333C>GSubstitution - Missense
SHOX2ENSG00000168779ENST00000425436p.A320Ac.960C>GSubstitution - coding silent
CCDC88AENSG00000115355ENST00000263630p.E996Qc.2986G>CSubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.C814fs*22c.2439delCDeletion - Frameshift
ENST00000409867_v68p.H143Rc.428A>GSubstitution - Missense
PLA2G6ENSG00000184381ENST00000332509p.A268Ac.804G>ASubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.L376fs*39c.1125_1126ins13Insertion - Frameshift
PCDHA7ENSG00000204963ENST00000525929p.S506Nc.1517G>ASubstitution - Missense
OR2A12ENSG00000221858ENST00000408949p.I159Nc.476T>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
FAM129BENSG00000136830ENST00000373314p.R201Hc.602G>ASubstitution - Missense
ZNF438ENSG00000183621ENST00000452305p.G388Gc.1164A>GSubstitution - coding silent
NFATC4ENSG00000100968ENST00000413692p.K627Qc.1879A>CSubstitution - Missense
NFATC4ENSG00000100968ENST00000250373p.K564Qc.1690A>CSubstitution - Missense
COX15ENSG00000014919ENST00000016171p.L375Lc.1125G>ASubstitution - coding silent
PLA2G4EENSG00000188089ENST00000413860p.V23Ic.67G>ASubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.G1001Rc.3001G>ASubstitution - Missense
RAB21ENSG00000080371ENST00000261263p.Q145*c.433C>TSubstitution - Nonsense
SCG3ENSG00000104112ENST00000220478p.D73Gc.218A>GSubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.R584Tc.1751G>CSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.Y224Cc.671A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.?c.75-3C>TUnknown
NBNENSG00000104320ENST00000265433p.Q448*c.1342C>TSubstitution - Nonsense
CAAP1ENSG00000120159ENST00000333916p.T109Sc.325A>TSubstitution - Missense
HIST1H3BENSG00000124693ENST00000244661p.I75Vc.223A>GSubstitution - Missense
KRTAP13-2ENSG00000182816ENST00000399889p.R148Hc.443G>ASubstitution - Missense
NOP58ENSG00000055044ENST00000264279p.K206Rc.617A>GSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.M2095Ic.6285G>ASubstitution - Missense
SDHAENSG00000073578ENST00000264932p.?c.1064+5G>AUnknown
NM_004142.1p.T8Ic.23C>TSubstitution - Missense
FBRSENSG00000156860ENST00000356166p.S707Pc.2119T>CSubstitution - Missense
FUT2ENSG00000176920ENST00000425340p.R191Wc.571C>TSubstitution - Missense
EIF3GENSG00000130811ENST00000253108p.D125Dc.375T>CSubstitution - coding silent
XM_046751.7p.H673Hc.2019C>TSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.Q1384Kc.4150C>ASubstitution - Missense
ENST00000331986p.L2036Ic.6106C>ASubstitution - Missense
CYP46A1ENSG00000036530ENST00000261835p.D294Hc.880G>CSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.S707Fc.2120C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.75-3C>TUnknown
PAPD5ENSG00000121274ENST00000436909p.V197Vc.591G>ASubstitution - coding silent
PROM2ENSG00000155066ENST00000317668p.C430Cc.1290C>TSubstitution - coding silent
DLX5ENSG00000105880ENST00000222598p.E204Ec.612G>ASubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.H2471Hc.7413C>TSubstitution - coding silent
PLA2G3ENSG00000100078ENST00000215885p.A287Vc.860C>TSubstitution - Missense
CLCN5ENSG00000171365ENST00000376088p.R350Hc.1049G>ASubstitution - Missense
CCSER1ENSG00000184305ENST00000432775p.T253Ic.758C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S999Lc.2996C>TSubstitution - Missense
NM_001371.1p.Q1928Rc.5783A>GSubstitution - Missense
PNISRENSG00000132424ENST00000369239p.P105Pc.315A>GSubstitution - coding silent
NM_181334.1p.G338Cc.1012G>TSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000346753p.E177Ec.531G>ASubstitution - coding silent
TRIML2ENSG00000179046ENST00000512729p.V115Ac.344T>CSubstitution - Missense
SSRP1ENSG00000149136ENST00000278412p.H151Hc.453C>TSubstitution - coding silent
NFATC4ENSG00000100968ENST00000555453p.K552Qc.1654A>CSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.S707Fc.2120C>TSubstitution - Missense
FAM189BENSG00000160767ENST00000361361p.D282Nc.844G>ASubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.R45Cc.133C>TSubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.Q420*c.1258C>TSubstitution - Nonsense
NIT1ENSG00000158793ENST00000368009p.E45Dc.135A>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.Q567Hc.1701G>CSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.R2548Cc.7642C>TSubstitution - Missense
MITFENSG00000187098ENST00000352241p.?c.1161+5G>AUnknown
HRH3ENSG00000101180ENST00000340177p.L231Lc.693C>ASubstitution - coding silent
TCP10L2ENSG00000166984ENST00000366832p.I54Ic.162C>ASubstitution - coding silent
WRBENSG00000182093ENST00000333781p.M1Ic.3G>CSubstitution - Missense
HNF4GENSG00000164749ENST00000396423p.?c.857-4T>CUnknown
ENST00000360660p.V83fs*38c.246_247insGInsertion - Frameshift
RTEL1ENSG00000258366ENST00000318100p.?c.1722+3G>AUnknown
LILRA6ENSG00000244482ENST00000396365p.M453Vc.1357A>GSubstitution - Missense
MRPS7ENSG00000125445ENST00000245539p.R179Cc.535C>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.T253Ic.758C>TSubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.L373Mc.1117C>ASubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.Q90Hc.270G>CSubstitution - Missense
MAPK14ENSG00000112062ENST00000229794p.?c.682+5C>GUnknown
NFATC1ENSG00000131196ENST00000591814p.?c.1387-10C>GUnknown
ZMYND8ENSG00000101040ENST00000461685p.N1149fs*2c.3444_3445insAInsertion - Frameshift
DDAH2ENSG00000213722ENST00000375787p.D77Nc.229G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P1959Sc.5875C>TSubstitution - Missense
ZNF219ENSG00000165804ENST00000360947p.R126Rc.378C>TSubstitution - coding silent
GSTK1ENSG00000197448ENST00000479303p.?c.283+4A>GUnknown
NUAK1ENSG00000074590ENST00000261402p.K391Rc.1172A>GSubstitution - Missense
OAS1ENSG00000089127ENST00000202917p.L287Lc.861G>CSubstitution - coding silent
TLL2ENSG00000095587ENST00000357947p.?c.818-8T>CUnknown
NTF3ENSG00000185652ENST00000331010p.L31Lc.93C>GSubstitution - coding silent
CINPENSG00000100865ENST00000216756p.T165Tc.495G>ASubstitution - coding silent
C1orf213ENSG00000249087ENST00000335648p.E42Qc.124G>CSubstitution - Missense
ZNF891ENSG00000214029ENST00000397313p.M30Vc.88A>GSubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.E771*c.2311G>TSubstitution - Nonsense
TCF7L2ENSG00000148737ENST00000369397p.P497Pc.1491T>GSubstitution - coding silent
ALDH6A1ENSG00000119711ENST00000553458p.?c.186+6C>TUnknown
NIT1ENSG00000158793ENST00000368007p.E30Ac.89A>CSubstitution - Missense
APOA5ENSG00000110243ENST00000227665p.T184Sc.551C>GSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.N1816Dc.5446A>GSubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.Q462Hc.1386G>CSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.H1222Pc.3665A>CSubstitution - Missense
TBCDENSG00000141556ENST00000397466p.E291Qc.871G>CSubstitution - Missense
ENST00000404649p.R135Rc.405T>GSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.T304Mc.911C>TSubstitution - Missense
SLC18A1ENSG00000036565ENST00000276373p.M295Rc.884T>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.R1506Hc.4517G>ASubstitution - Missense
GNALENSG00000141404ENST00000423027p.C352Cc.1056C>TSubstitution - coding silent
MRPL36ENSG00000171421ENST00000382647p.V90Ic.268G>ASubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000485419p.?c.156-3C>TUnknown
DNPEPENSG00000123992ENST00000273075p.R169Pc.506G>CSubstitution - Missense
EXD3ENSG00000187609ENST00000340951p.Q105*c.313C>TSubstitution - Nonsense
ATRXENSG00000085224ENST00000373344p.S675Fc.2024C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000393845p.F33Fc.99C>TSubstitution - coding silent
SOX10ENSG00000100146ENST00000396884p.?c.428+10C>GUnknown
CDK20ENSG00000156345ENST00000336654p.M71Ic.213G>CSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.?c.942+2_942+6deltaaaaUnknown
ENST00000318009p.R91Kc.272G>ASubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.R87Cc.259C>TSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.W23Cc.69G>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Qc.1532C>ASubstitution - Missense
CHST4ENSG00000140835ENST00000338482p.G358Ac.1073G>CSubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.E193Qc.577G>CSubstitution - Missense
SDR39U1ENSG00000100445ENST00000399395p.I39Vc.115A>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.T633Sc.1898C>GSubstitution - Missense
ENST00000426521p.T39Mc.116C>TSubstitution - Missense
OAS1ENSG00000089127ENST00000445409p.L287Lc.861G>CSubstitution - coding silent
BROXENSG00000162819ENST00000340934p.?c.306-10A>GUnknown
VWA5AENSG00000110002ENST00000392748p.S402Tc.1205G>CSubstitution - Missense
PKD2L1ENSG00000107593ENST00000318222p.V548Ic.1642G>ASubstitution - Missense
RBMXL2ENSG00000170748ENST00000306904p.S275Sc.825C>TSubstitution - coding silent
ABCC8ENSG00000006071ENST00000389817p.V607Mc.1819G>ASubstitution - Missense
TGFB3ENSG00000119699ENST00000238682p.?c.755-3C>GUnknown
ENST00000322367p.D1448Nc.4342G>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.Q508_Q510delQQQc.1523_1531delAGCAGCAGCDeletion - In frame
NM_033086.1p.D363Nc.1087G>ASubstitution - Missense
NM_003319p.S3879Ac.11635T>GSubstitution - Missense
HRCENSG00000130528ENST00000252825p.H336Yc.1006C>TSubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.?c.2434-5C>GUnknown
XM_043272.9p.T1597Mc.4790C>TSubstitution - Missense
KRTAP1-4ENSG00000204887ENST00000377747p.P27_Q31delPSCCQc.79_93del15Deletion - In frame
SLC4A4ENSG00000080493ENST00000425175p.?c.2372_2442+334del405Unknown
ZNF628ENSG00000197483ENST00000391718p.R638Rc.1914G>ASubstitution - coding silent
TMLHEENSG00000185973ENST00000334398p.I321Mc.963C>GSubstitution - Missense
SH3KBP1ENSG00000147010ENST00000379698p.E617*c.1849G>TSubstitution - Nonsense
ACPPENSG00000014257ENST00000351273p.W226*c.678G>ASubstitution - Nonsense
DSTENSG00000151914ENST00000370769p.C2200Yc.6599G>ASubstitution - Missense
OR2A4ENSG00000180658ENST00000315453p.A56Tc.166G>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.D341Hc.1021G>CSubstitution - Missense
IFNL2ENSG00000183709ENST00000331982p.D121Dc.363C>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.?c.4130-3C>TUnknown
CRYGSENSG00000213139ENST00000307944p.P89Tc.265C>ASubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.H193Yc.577C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.?c.4548+5G>AUnknown
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
FIBCD1ENSG00000130720ENST00000372338p.L182Lc.546C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000397617p.P1373Pc.4119A>GSubstitution - coding silent
ENST00000354576p.P61Rc.182C>GSubstitution - Missense
ENST00000369212_v70p.A324Vc.971C>TSubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.L347Lc.1039C>TSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.Q1491Kc.4471C>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.I99Ic.297C>TSubstitution - coding silent
SERPINC1ENSG00000117601ENST00000367698p.S282Cc.845C>GSubstitution - Missense
RNF19BENSG00000116514ENST00000356990p.G359Gc.1077G>ASubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.N687Sc.2060A>GSubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.R703Cc.2107C>TSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.I504Ic.1512C>ASubstitution - coding silent
BANPENSG00000172530ENST00000393207p.H419Hc.1257T>CSubstitution - coding silent
SHANK3ENSG00000251322ENST00000262795p.N161Ic.482A>TSubstitution - Missense
TACC1ENSG00000147526ENST00000317827p.L766Fc.2296C>TSubstitution - Missense
CPB1ENSG00000153002ENST00000282957p.?c.373-1G>CUnknown
SLC4A5ENSG00000188687ENST00000394019p.M746Ic.2238G>TSubstitution - Missense
PTCHD1ENSG00000165186ENST00000379361p.L823Vc.2467C>GSubstitution - Missense
TRIM7ENSG00000146054ENST00000393319p.E234Ec.702G>ASubstitution - coding silent
DGKDENSG00000077044ENST00000264057p.V96Vc.288G>ASubstitution - coding silent
FBRSENSG00000156860ENST00000395073p.S99Pc.295T>CSubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.P122Lc.365C>TSubstitution - Missense
KLC3ENSG00000104892ENST00000391946p.S433fs*4c.1294_1295delCTDeletion - Frameshift
MAPK14ENSG00000112062ENST00000229795p.?c.682+5C>GUnknown
EXD3ENSG00000187609ENST00000340951p.Q105*c.313C>TSubstitution - Nonsense
HDXENSG00000165259ENST00000297977p.S378Lc.1133C>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.V228Lc.682G>CSubstitution - Missense
ENST00000346816p.P1251Pc.3753A>GSubstitution - coding silent
GGT2ENSG00000133475ENST00000401924p.K4delKc.10_12delAAGDeletion - In frame
CHD6ENSG00000124177ENST00000373222p.N283Nc.849T>CSubstitution - coding silent
TSHZ1ENSG00000179981ENST00000580243p.S611Lc.1832C>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000537830p.L706Lc.2118C>TSubstitution - coding silent
SEZ6ENSG00000063015ENST00000360295p.T47Ic.140C>TSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.L221Lc.663C>TSubstitution - coding silent
FAM160A2ENSG00000051009ENST00000265978p.R147Qc.440G>ASubstitution - Missense
PLEKHM2ENSG00000116786ENST00000375799p.K989Kc.2967G>ASubstitution - coding silent
PEA15ENSG00000162734ENST00000368076p.A11Vc.32C>TSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.G1696Sc.5086G>ASubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.V161Mc.481G>ASubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.R265Rc.795T>GSubstitution - coding silent
ITGA8ENSG00000077943ENST00000378076p.Y981Yc.2943T>CSubstitution - coding silent
MEF2AENSG00000068305ENST00000453228p.Q417_Q420delQQQQc.1228_1239del12Deletion - In frame
IDH1ENSG00000138413ENST00000345146p.L209Lc.627G>CSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.?c.75-3C>TUnknown
CAPN6ENSG00000077274ENST00000324068p.Q112Rc.335A>GSubstitution - Missense
GRIA3ENSG00000125675ENST00000371256p.S624Yc.1871C>ASubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.R882Wc.2644C>TSubstitution - Missense
RDH13ENSG00000160439ENST00000396247p.S102Lc.305C>TSubstitution - Missense
APMAPENSG00000101474ENST00000451442p.G300Ac.899G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.M632Ic.1896G>ASubstitution - Missense
BRI3ENSG00000164713ENST00000297290p.R66Hc.197G>ASubstitution - Missense
MAOBENSG00000069535ENST00000378069p.R494Gc.1480A>GSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.F303Sc.908T>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.R638Rc.1914G>ASubstitution - coding silent
NM_006904p.R3885Wc.11653C>TSubstitution - Missense
FAM50AENSG00000071859ENST00000393600p.R309Sc.927G>CSubstitution - Missense
CCDC74AENSG00000163040ENST00000295171p.E73Ec.219G>ASubstitution - coding silent
GMIPENSG00000089639ENST00000203556p.E48Kc.142G>ASubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.F885Fc.2655C>TSubstitution - coding silent
NM_006596.3p.N390Nc.1170T>CSubstitution - coding silent
PTPRDENSG00000153707ENST00000381196p.P1780Pc.5340A>GSubstitution - coding silent
ENSG00000260537ENST00000567706p.D232Hc.694G>CSubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.L961Lc.2881C>TSubstitution - coding silent
TRIM64CENSG00000214891ENST00000530230p.W403Lc.1208G>TSubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.S1374Nc.4121G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.D1080Hc.3238G>CSubstitution - Missense
STIM1ENSG00000167323ENST00000300737p.R615Cc.1843C>TSubstitution - Missense
BRF1ENSG00000185024ENST00000546474p.?c.1824+6T>GUnknown
CROCCENSG00000058453ENST00000375541p.E368Kc.1102G>ASubstitution - Missense
IPO9ENSG00000198700ENST00000456707p.G99Gc.297G>ASubstitution - coding silent
PRLRENSG00000113494ENST00000382002p.P269Pc.807G>ASubstitution - coding silent
DUOXA2ENSG00000140274ENST00000323030p.I227Mc.681C>GSubstitution - Missense
KATNBL1ENSG00000134152ENST00000256544p.?c.118-10C>AUnknown
ATP6V1HENSG00000047249ENST00000355221p.S314Sc.942C>TSubstitution - coding silent
RAB40AENSG00000172476ENST00000372633p.S82Cc.245C>GSubstitution - Missense
RSBN1LENSG00000187257ENST00000334955p.Q30Qc.90A>GSubstitution - coding silent
NM_001001671.1p.S519Lc.1556C>TSubstitution - Missense
ATP2A1ENSG00000196296ENST00000357084p.I368Mc.1104C>GSubstitution - Missense
LAS1LENSG00000001497ENST00000374811p.K691Qc.2071A>CSubstitution - Missense
ICAM3ENSG00000076662ENST00000160262p.A352fs*11c.1053delCDeletion - Frameshift
ENST00000238522p.S2805Lc.8414C>TSubstitution - Missense
SLC3A1ENSG00000138079ENST00000260649p.S40*c.119C>GSubstitution - Nonsense
ENST00000376458p.F153Fc.459C>TSubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.T1290Tc.3870C>TSubstitution - coding silent
INVSENSG00000119509ENST00000541287p.I458Kc.1373T>ASubstitution - Missense
CNTNAP3ENSG00000106714ENST00000358144p.D118Dc.354C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.K132Nc.396G>CSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.L2187Vc.6559C>GSubstitution - Missense
SERPINH1ENSG00000149257ENST00000533603p.L54Lc.160T>CSubstitution - coding silent
PAX2ENSG00000075891ENST00000428433p.I135Ic.405C>TSubstitution - coding silent
TMEM61ENSG00000143001ENST00000371268p.D8Dc.24C>TSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000357681p.R834Rc.2502A>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369348p.W114Cc.342G>CSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.A350Ac.1050T>CSubstitution - coding silent
MITFENSG00000187098ENST00000394351p.?c.858+5G>AUnknown
POLR1AENSG00000068654ENST00000263857p.E841Ec.2523G>ASubstitution - coding silent
TBCDENSG00000141556ENST00000397466p.E287*c.859G>TSubstitution - Nonsense
TCP10L2ENSG00000166984ENST00000366832p.I54Ic.162C>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.T633Sc.1898C>GSubstitution - Missense
BANPENSG00000172530ENST00000355163p.H397Hc.1191T>CSubstitution - coding silent
BANPENSG00000172530ENST00000355022p.H391Hc.1173T>CSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.?c.10667+1G>TUnknown
NM_021140.1p.T1299Tc.3897T>CSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.S295Lc.884C>TSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.V112Ac.335T>CSubstitution - Missense
G6PDENSG00000160211ENST00000393562p.R222Hc.665G>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.D1260Dc.3780C>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T4219Mc.12656C>TSubstitution - Missense
SKP1ENSG00000113558ENST00000353411p.S24Sc.72T>CSubstitution - coding silent
NUP88ENSG00000108559ENST00000573584p.L594delLc.1781_1783delTATDeletion - In frame
ZNF780AENSG00000197782ENST00000455521p.I602Tc.1805T>CSubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.S198Sc.594G>ASubstitution - coding silent
NOBOXENSG00000106410ENST00000223140p.L333Lc.999G>CSubstitution - coding silent
LIPHENSG00000163898ENST00000296252p.S377Sc.1131T>CSubstitution - coding silent
GRIK3ENSG00000163873ENST00000373093p.H58Hc.174T>CSubstitution - coding silent
ATP12AENSG00000075673ENST00000218548p.Q707Hc.2121G>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000598519p.R642Rc.1926G>ASubstitution - coding silent
GRIA3ENSG00000125675ENST00000541091p.S608Yc.1823C>ASubstitution - Missense
C1orf127ENSG00000175262ENST00000377004p.R496Wc.1486C>TSubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.R211Wc.631C>TSubstitution - Missense
ZNF438ENSG00000183621ENST00000361310p.G398Gc.1194A>GSubstitution - coding silent
KIAA1462ENSG00000165757ENST00000375377p.D309Dc.927C>TSubstitution - coding silent
OR8D1ENSG00000196341ENST00000357821p.T91Ic.272C>TSubstitution - Missense
ENST00000336353p.I64Vc.190A>GSubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.R176Ic.527G>TSubstitution - Missense
RNF151ENSG00000179580ENST00000321392p.R98Hc.293G>ASubstitution - Missense
TRIM49CENSG00000204449ENST00000432771p.?c.762-2A>TUnknown
RFX7ENSG00000181827ENST00000423270p.L835Lc.2503C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.W43Cc.129G>CSubstitution - Missense
FSCBENSG00000189139ENST00000340446p.F265Fc.795C>TSubstitution - coding silent
BCORL1ENSG00000085185ENST00000218147p.G931Gc.2793G>TSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.S690Fc.2069C>TSubstitution - Missense
MAFENSG00000178573ENST00000326043p.S80Sc.240G>CSubstitution - coding silent
C20orf112ENSG00000197183ENST00000326071p.P352Pc.1056T>CSubstitution - coding silent
WNK2ENSG00000165238ENST00000297954p.S1411Nc.4232G>ASubstitution - Missense
COPG2ENSG00000158623ENST00000445977p.V27Ic.79G>ASubstitution - Missense
GGTLC1ENSG00000149435ENST00000278765p.G119Sc.355G>ASubstitution - Missense
PFASENSG00000178921ENST00000314666p.G658Gc.1974G>ASubstitution - coding silent
HAUS1ENSG00000152240ENST00000282058p.E56Qc.166G>CSubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.R834Rc.2502A>CSubstitution - coding silent
ENST00000545858p.?c.75-3C>TUnknown
ENST00000325394p.A21Tc.61G>ASubstitution - Missense
HDGFL1ENSG00000112273ENST00000230012p.P94Rc.281C>GSubstitution - Missense
IMPA2ENSG00000141401ENST00000269159p.?c.97-3C>TUnknown
CREBBPENSG00000005339ENST00000262367p.H1713Hc.5139C>TSubstitution - coding silent
IQSEC2ENSG00000124313ENST00000375365p.T868Ic.2603C>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000316341p.L712Lc.2136C>TSubstitution - coding silent
PGGT1BENSG00000164219ENST00000419445p.N106Sc.317A>GSubstitution - Missense
MFSD9ENSG00000135953ENST00000258436p.L74Fc.220C>TSubstitution - Missense
SCG2ENSG00000171951ENST00000305409p.M169Vc.505A>GSubstitution - Missense
ENST00000287468_v65p.S187Pc.559T>CSubstitution - Missense
EML6ENSG00000214595ENST00000356458p.R1245Tc.3734G>CSubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.A324Vc.971C>TSubstitution - Missense
ARMC6ENSG00000105676ENST00000535612p.R256Cc.766C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.D3432Dc.10296T>CSubstitution - coding silent
SEC63ENSG00000025796ENST00000369002p.?c.515-3C>TUnknown
BCLAF1ENSG00000029363ENST00000531224p.?c.2733_2758-3>22Unknown
NM_002847.2p.?c.2344+5G>AUnknown
AHRENSG00000106546ENST00000242057p.C764Wc.2292T>GSubstitution - Missense
SUPT5HENSG00000196235ENST00000359191p.F373Lc.1119C>GSubstitution - Missense
GSTK1ENSG00000197448ENST00000358406p.?c.283+4A>GUnknown
BCORL1ENSG00000085185ENST00000303743p.G931Gc.2793G>TSubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.P1189Pc.3567T>ASubstitution - coding silent
PABPC4ENSG00000090621ENST00000372857p.R265Rc.795T>GSubstitution - coding silent
AKR1CL1ENSG00000196326ENST00000473890p.Q27Hc.81G>CSubstitution - Missense
UEVLDENSG00000151116ENST00000543987p.Y113Cc.338A>GSubstitution - Missense
HS1BP3ENSG00000118960ENST00000304031p.G188Gc.564C>TSubstitution - coding silent
C1orf173ENSG00000178965ENST00000326665p.T927Ac.2779A>GSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.L345Lc.1033C>TSubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.R787Hc.2360G>ASubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.P1795Sc.5383C>TSubstitution - Missense
NPRL2ENSG00000114388ENST00000232501p.Q207Hc.621G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.C753Cc.2259C>TSubstitution - coding silent
NPBWR2ENSG00000125522ENST00000369768p.P111Lc.332C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000453996p.A494Ac.1482C>TSubstitution - coding silent
DUS2ENSG00000167264ENST00000358896p.R440Rc.1320G>CSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.M848Vc.2542A>GSubstitution - Missense
ACPPENSG00000014257ENST00000336375p.W226*c.678G>ASubstitution - Nonsense
SLC9C1ENSG00000172139ENST00000305815p.S353Sc.1059T>GSubstitution - coding silent
KYENSG00000174611ENST00000423778p.R593Wc.1777C>TSubstitution - Missense
F13A1ENSG00000124491ENST00000264870p.T181Tc.543G>ASubstitution - coding silent
SHROOM2ENSG00000146950ENST00000380913p.R621*c.1861C>TSubstitution - Nonsense
TMEM161BENSG00000164180ENST00000296595p.M348Ic.1044G>ASubstitution - Missense
CLIC5ENSG00000112782ENST00000185206p.V179fs*42c.536_537delTGDeletion - Frameshift
HRH3ENSG00000101180ENST00000317393p.L231Lc.693C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.V173Lc.517G>CSubstitution - Missense
TGM1ENSG00000092295ENST00000206765p.R155Wc.463C>TSubstitution - Missense
ACAD8ENSG00000151498ENST00000281182p.M64fs*41c.191_192insTInsertion - Frameshift
SMG7ENSG00000116698ENST00000347615p.L347Vc.1039C>GSubstitution - Missense
SU_SMG1p.H2274Dc.6820C>GSubstitution - Missense
APBB1IPENSG00000077420ENST00000376236p.R662Tc.1985G>CSubstitution - Missense
SYT17ENSG00000103528ENST00000355377p.L50Lc.148C>TSubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.L738Lc.2212C>TSubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379410p.?c.612+10G>AUnknown
TTNENSG00000155657ENST00000359218p.M4369Ic.13107G>CSubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.S624Yc.1871C>ASubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.R237Hc.710G>ASubstitution - Missense
KANK2ENSG00000197256ENST00000355150p.P321Pc.963G>ASubstitution - coding silent
INTS2ENSG00000108506ENST00000444766p.F252Lc.756C>GSubstitution - Missense
PIK3R5ENSG00000141506ENST00000447110p.A132Tc.394G>ASubstitution - Missense
FOXP3ENSG00000049768ENST00000376207p.G317Ec.950G>ASubstitution - Missense
TRIM7ENSG00000146054ENST00000274773p.E416Ec.1248G>ASubstitution - coding silent
MROH2AENSG00000185038ENST00000389758p.Y1381Cc.4142A>GSubstitution - Missense
NBPF14ENSG00000122497ENST00000444640p.?c.1038+4A>CUnknown
UBR4ENSG00000127481ENST00000375267p.N1816Dc.5446A>GSubstitution - Missense
FUBP1ENSG00000162613ENST00000436586p.S11Sc.33T>CSubstitution - coding silent
FUBP1ENSG00000162613ENST00000370767p.S11Sc.33T>CSubstitution - coding silent
IL23RENSG00000162594ENST00000425614p.I204Ic.612C>TSubstitution - coding silent
NFATC4ENSG00000100968ENST00000556279p.K596Qc.1786A>CSubstitution - Missense
SLC12A4ENSG00000124067ENST00000541864p.L681Lc.2043C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.?c.75-3C>TUnknown
KANK2ENSG00000197256ENST00000432929p.P321Pc.963G>ASubstitution - coding silent
EML2ENSG00000125746ENST00000536630p.L386Fc.1158G>CSubstitution - Missense
ENST00000451442_v70p.G300Ac.899G>CSubstitution - Missense
PCK1ENSG00000124253ENST00000535860p.L129Pc.386T>CSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000381792p.E168Ec.504G>ASubstitution - coding silent
TRIML2ENSG00000179046ENST00000536972p.V165Ac.494T>CSubstitution - Missense
PPA2ENSG00000138777ENST00000357415p.D236Nc.706G>ASubstitution - Missense
ACAD8ENSG00000151498ENST00000543332p.W23fs*14c.67_68insTInsertion - Frameshift
MTMR3ENSG00000100330ENST00000333027p.I737_Q741delIGLHQc.2208_2222del15Deletion - In frame
CTU2ENSG00000174177ENST00000567949p.A565Ac.1695C>TSubstitution - coding silent
ENST00000353411_v70p.S24Sc.72T>CSubstitution - coding silent
CDKL3ENSG00000006837ENST00000435240p.R34Ic.101G>TSubstitution - Missense
PRLRENSG00000113494ENST00000542609p.P269Pc.807G>ASubstitution - coding silent
NPR3ENSG00000113389ENST00000415685p.?c.863+8C>TUnknown
MYBENSG00000118513ENST00000316528p.M416Ic.1248G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.Q2145Rc.6434A>GSubstitution - Missense
ASB4ENSG00000005981ENST00000428113p.S11Cc.32C>GSubstitution - Missense
BRI3ENSG00000164713ENST00000539286p.R66Hc.197G>ASubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.E383Gc.1148A>GSubstitution - Missense
GCKENSG00000106633ENST00000395796p.P144Pc.432C>GSubstitution - coding silent
TACC1ENSG00000147526ENST00000379931p.L778Fc.2332C>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000400046p.D179Nc.535G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.M632Ic.1896G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.C753Cc.2259C>TSubstitution - coding silent
SETXENSG00000107290ENST00000372169p.S1663Sc.4989T>ASubstitution - coding silent
POMT1ENSG00000130714ENST00000354713p.V223Ic.667G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.P1320Sc.3958C>TSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.S986Nc.2957G>ASubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.T1306Tc.3918T>CSubstitution - coding silent
ENST00000446478p.E34Kc.100G>ASubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.S1044Lc.3131C>TSubstitution - Missense
G6PDENSG00000160211ENST00000369620p.R192Hc.575G>ASubstitution - Missense
PTK6ENSG00000101213ENST00000217185p.P387Sc.1159C>TSubstitution - Missense
CLEC12BENSG00000256660ENST00000338896p.Y244Yc.732T>CSubstitution - coding silent
ENST00000399147_v68p.P366Sc.1096C>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000444640p.?c.1038+3_1038+6delgagtUnknown
FAM189BENSG00000160767ENST00000361361p.R539Lc.1616G>TSubstitution - Missense
MYOGENSG00000122180ENST00000241651p.R147Hc.440G>ASubstitution - Missense
USP24ENSG00000162402ENST00000294383p.K615Kc.1845G>ASubstitution - coding silent
MRPL15ENSG00000137547ENST00000260102p.?c.430-3C>TUnknown
MUC16ENSG00000181143ENST00000397910p.L6403Ic.19207C>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.L404Lc.1212C>TSubstitution - coding silent
MYLK2ENSG00000101306ENST00000375994p.G85Ec.254G>ASubstitution - Missense
IL17RAENSG00000177663ENST00000319363p.R263Qc.788G>ASubstitution - Missense
LATS1ENSG00000131023ENST00000543571p.C814fs*22c.2439delCDeletion - Frameshift
CDH10ENSG00000040731ENST00000264463p.R219Rc.657G>ASubstitution - coding silent
TTC37ENSG00000198677ENST00000358746p.Y1026Yc.3078C>TSubstitution - coding silent
SLC22A4ENSG00000197208ENST00000200652p.A240Vc.719C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.D3432Dc.10296T>CSubstitution - coding silent
INVSENSG00000119509ENST00000262457p.I554Kc.1661T>ASubstitution - Missense
PCDHB1ENSG00000171815ENST00000306549p.R32Cc.94C>TSubstitution - Missense
ENST00000251268_v61p.E1077Qc.3229G>CSubstitution - Missense
PSTKENSG00000179988ENST00000405485p.E200Kc.598G>ASubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.S52*c.155C>GSubstitution - Nonsense
IGSF3ENSG00000143061ENST00000369486p.N667Sc.2000A>GSubstitution - Missense
SMG7ENSG00000116698ENST00000507469p.L347Vc.1039C>GSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.L77Lc.231G>ASubstitution - coding silent
HAUS7ENSG00000213397ENST00000370212p.?c.1137+3G>TUnknown
GALNT10ENSG00000164574ENST00000297107p.R256Qc.767G>ASubstitution - Missense
GALNT10ENSG00000164574ENST00000425427p.R256Qc.767G>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.L128Lc.384A>GSubstitution - coding silent
GSTK1ENSG00000197448ENST00000358406p.?c.283+4_283+5delaaUnknown
GSTK1ENSG00000197448ENST00000479303p.?c.283+4_283+5delaaUnknown
KRBA1ENSG00000133619ENST00000255992p.I994Fc.2980A>TSubstitution - Missense
NOBOXENSG00000106410ENST00000467773p.L365Lc.1095G>CSubstitution - coding silent
GCKENSG00000106633ENST00000345378p.P146Pc.438C>GSubstitution - coding silent
GCKENSG00000106633ENST00000403799p.P145Pc.435C>GSubstitution - coding silent
DDX19AENSG00000168872ENST00000302243p.D231Hc.691G>CSubstitution - Missense
DDX19AENSG00000168872ENST00000302243p.D231Hc.691G>CSubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.H302Qc.906C>GSubstitution - Missense
DNAJB1ENSG00000132002ENST00000254322p.K35Kc.105G>ASubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
DMRTC2ENSG00000142025ENST00000269945p.C344Rc.1030T>CSubstitution - Missense
SLC27A1ENSG00000130304ENST00000442725p.F317Lc.951C>ASubstitution - Missense
SLC27A1ENSG00000130304ENST00000252595p.F317Lc.951C>ASubstitution - Missense
ENST00000319396p.A1134Ac.3402G>ASubstitution - coding silent
ENST00000319396p.A1134Ac.3402G>ASubstitution - coding silent
LIPEENSG00000079435ENST00000244289p.G205Rc.613G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.E1010Qc.3028G>CSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.E618Qc.1852G>CSubstitution - Missense
ZNF225ENSG00000256294ENST00000262894p.S551Tc.1652G>CSubstitution - Missense
PHLDB3ENSG00000176531ENST00000292140p.R321Wc.961C>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.N248Nc.744T>CSubstitution - coding silent
NM_021874.2p.E179Qc.535G>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.N1202fs*2c.3603_3604insAInsertion - Frameshift
EPHA5ENSG00000145242ENST00000273854p.T708Sc.2122A>TSubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.?c.2413+5G>AUnknown
KLHL22ENSG00000099910ENST00000328879p.D607Dc.1821C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.A1059Tc.3175G>ASubstitution - Missense
NM_005607p.L1068Pc.3203T>CSubstitution - Missense
ENST00000395214p.L1001Pc.3002T>CSubstitution - Missense
ENSG00000258417ENST00000262283p.S72Sc.216G>ASubstitution - coding silent
HHLA1ENSG00000132297ENST00000414222p.S330Sc.990G>ASubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.?c.7161-8G>AUnknown
SPTAN1ENSG00000197694ENST00000372731p.?c.7146-8G>AUnknown
POMT1ENSG00000130714ENST00000372228p.V275Ic.823G>ASubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.A846Sc.2536G>TSubstitution - Missense
ENST00000318560_v70p.A827Sc.2479G>TSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.A827Sc.2479G>TSubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.Q502Qc.1506G>ASubstitution - coding silent
IGF2BP2ENSG00000073792ENST00000382199p.?c.1462-3C>GUnknown
IGF2BP2ENSG00000073792ENST00000421047p.?c.1291-3C>GUnknown
AGAENSG00000038002ENST00000264595p.D104Hc.310G>CSubstitution - Missense
GPRIN1ENSG00000169258ENST00000303991p.M300Ic.900G>ASubstitution - Missense
DDAH2ENSG00000213722ENST00000375787p.D215Nc.643G>ASubstitution - Missense
KIFC1ENSG00000237649ENST00000428849p.P322Pc.966G>CSubstitution - coding silent
RPS10ENSG00000124614ENST00000326199p.?c.457-1G>CUnknown
ENST00000326199_v70p.?c.457-1G>CUnknown
TDRD6ENSG00000180113ENST00000316081p.G387Gc.1161C>GSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.K132Nc.396G>CSubstitution - Missense
IL15RAENSG00000134470ENST00000397255p.V76Mc.226G>ASubstitution - Missense
ENST00000340070p.W403Lc.1208G>TSubstitution - Missense
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
LRRC55ENSG00000183908ENST00000497933p.H74Yc.220C>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.T137Mc.410C>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000444640p.?c.1038+5G>CUnknown
NBPF14ENSG00000122497ENST00000369219p.?c.1006+4A>CUnknown
NBPF14ENSG00000122497ENST00000310701p.?c.1023+4A>CUnknown
ATP7AENSG00000165240ENST00000341514p.Q704Rc.2111A>GSubstitution - Missense
NM_000052.2p.Q704Rc.2111A>GSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.M848Vc.2542A>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.E811*c.2431G>TSubstitution - Nonsense
ATP8B3ENSG00000130270ENST00000539485p.E858*c.2572G>TSubstitution - Nonsense
ARMC6ENSG00000105676ENST00000269932p.R231Cc.691C>TSubstitution - Missense
EML2ENSG00000125746ENST00000245925p.L239Fc.717G>CSubstitution - Missense
RAB6CENSG00000222014ENST00000410061p.P175Lc.524C>TSubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.T84Ic.251C>TSubstitution - Missense
ANKRD30BLENSG00000163046ENST00000409867p.H143Rc.428A>GSubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.L645Vc.1933C>GSubstitution - Missense
MAATS1ENSG00000183833ENST00000273390p.R476Wc.1426C>TSubstitution - Missense
PRR23CENSG00000233701ENST00000413199p.P101Pc.303C>TSubstitution - coding silent
KYENSG00000174611ENST00000423778p.R593Wc.1777C>TSubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.L462Lc.1386C>TSubstitution - coding silent
MTNR1AENSG00000168412ENST00000307161p.S185Fc.554C>TSubstitution - Missense
SLC27A6ENSG00000113396ENST00000262462p.I41Kc.122T>ASubstitution - Missense
CDKL3ENSG00000006837ENST00000265334p.R329Ic.986G>TSubstitution - Missense
CDKL3ENSG00000006837ENST00000523832p.R329Ic.986G>TSubstitution - Missense
SERPINB8ENSG00000166401ENST00000397985p.C348Cc.1044T>CSubstitution - coding silent
KLHL4ENSG00000102271ENST00000373114p.V228Lc.682G>CSubstitution - Missense
ENST00000217537p.Q73Ec.217C>GSubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.S566Lc.1697C>TSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000442782p.E177Ec.531G>ASubstitution - coding silent
TAB1ENSG00000100324ENST00000216160p.?c.1144+8T>CUnknown
FAM227AENSG00000184949ENST00000355830p.T62Tc.186C>TSubstitution - coding silent
COL10A1ENSG00000123500ENST00000327673p.G52Vc.155G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.P2400Tc.7198C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.P2360Tc.7078C>ASubstitution - Missense
KCNV1ENSG00000164794ENST00000524391p.S107Lc.320C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.M638Tc.1913T>CSubstitution - Missense
ENST00000357132p.M94Lc.280A>CSubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.I573Ic.1719C>TSubstitution - coding silent
GATA4ENSG00000136574ENST00000335135p.P407Qc.1220C>ASubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.F442Fc.1326C>TSubstitution - coding silent
ATAD2ENSG00000156802ENST00000287394p.?c.931+10A>GUnknown
ACTL7AENSG00000187003ENST00000333999p.K345_D347delKCDc.1031_1039delACAAGTGTGDeletion - In frame
ZNF462ENSG00000148143ENST00000277225p.P1748Pc.5244G>ASubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.P1748Pc.5244G>ASubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.K912fs*>9c.2733delGDeletion - Frameshift
MYBENSG00000118513ENST00000367814p.M416Ic.1248G>ASubstitution - Missense
MYBENSG00000118513ENST00000341911p.M537Ic.1611G>ASubstitution - Missense
FHL5ENSG00000112214ENST00000326771p.P80Ac.238C>GSubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.L347Lc.1039C>TSubstitution - coding silent
PREPLENSG00000138078ENST00000260648p.D587Hc.1759G>CSubstitution - Missense
COASYENSG00000068120ENST00000393818p.L415Vc.1243C>GSubstitution - Missense
ERLEC1ENSG00000068912ENST00000185150p.?c.268-6T>CUnknown
SPAG9ENSG00000008294ENST00000262013p.Q977Ec.2929C>GSubstitution - Missense
SPAG9ENSG00000008294ENST00000357122p.Q963Ec.2887C>GSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.V869Vc.2607G>TSubstitution - coding silent
SLITRK3ENSG00000121871ENST00000241274p.G868Rc.2602G>CSubstitution - Missense
LAMP3ENSG00000078081ENST00000265598p.L236Vc.706C>GSubstitution - Missense
SETXENSG00000107290ENST00000224140p.S1663Sc.4989T>ASubstitution - coding silent
TTF1ENSG00000125482ENST00000334270p.P324Pc.972A>GSubstitution - coding silent
CSNK1A1ENSG00000113712ENST00000515768p.I201Tc.602T>CSubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.P1374Pc.4122A>GSubstitution - coding silent
PTPRDENSG00000153707ENST00000381196p.P1780Pc.5340A>GSubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.P1370Pc.4110A>GSubstitution - coding silent
C9orf153ENSG00000187753ENST00000376001p.F2Lc.6C>ASubstitution - Missense
C9orf153ENSG00000187753ENST00000339137p.F2Lc.6C>ASubstitution - Missense
ZNF780AENSG00000197782ENST00000340963p.I567Tc.1700T>CSubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.L448Vc.1342C>GSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.W23Cc.69G>TSubstitution - Missense
FANCBENSG00000181544ENST00000324138p.M290Tc.869T>CSubstitution - Missense
MRPS18CENSG00000163319ENST00000295491p.C100Cc.300T>CSubstitution - coding silent
CCSER1ENSG00000184305ENST00000509176p.T253Ic.758C>TSubstitution - Missense
NM_006904p.?c.10670+1G>TUnknown
PRKDCENSG00000253729ENST00000314191p.R3884Wc.11650C>TSubstitution - Missense
PLEKHA2ENSG00000169499ENST00000420274p.I330Ic.990C>TSubstitution - coding silent
CXorf30ENSG00000205081ENST00000378657p.E429Kc.1285G>ASubstitution - Missense
XM_098980.6p.E971Kc.2911G>ASubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.T1299Tc.3897T>CSubstitution - coding silent
EFHC2ENSG00000183690ENST00000420999p.R160Wc.478C>TSubstitution - Missense
ENST00000333807p.R132Wc.394C>TSubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.K361Nc.1083G>TSubstitution - Missense
CLCN5ENSG00000171365ENST00000376108p.R280Hc.839G>ASubstitution - Missense
AKAP4ENSG00000147081ENST00000358526p.D166Hc.496G>CSubstitution - Missense
CHMP2AENSG00000130724ENST00000312547p.*223Rc.667T>CNonstop extension
CHRNB1ENSG00000170175ENST00000306071p.M465Tc.1394T>CSubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.H42Hc.126C>TSubstitution - coding silent
GOLGA4ENSG00000144674ENST00000361924p.Q494Rc.1481A>GSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.R840Cc.2518C>TSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.L311Fc.933G>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.S1834Fc.5501C>TSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.V112Ac.335T>CSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.L369Mc.1105C>ASubstitution - Missense
INO80BENSG00000115274ENST00000233331p.L354Wc.1061T>GSubstitution - Missense
NM_031288.1p.L341Wc.1022T>GSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.M746Ic.2238G>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S1705Lc.5114C>TSubstitution - Missense
FBXO41ENSG00000163013ENST00000521871p.E499*c.1495G>TSubstitution - Nonsense
XM_377742.2p.E123*c.367G>TSubstitution - Nonsense
ENST00000313019p.A155Ac.465C>GSubstitution - coding silent
IQCJENSG00000214216ENST00000397832p.?c.156-3C>TUnknown
CCNA2ENSG00000145386ENST00000274026p.E83Ec.249G>ASubstitution - coding silent
PCDH10ENSG00000138650ENST00000264360p.I867fs*12c.2597_2598delATDeletion - Frameshift
TRIM7ENSG00000146054ENST00000393319p.?c.443-1G>AUnknown
NPR3ENSG00000113389ENST00000265074p.?c.1514+8C>TUnknown
HIVEP2ENSG00000010818ENST00000012134p.E905_A906insKEc.2714_2715insGAAGGAInsertion - In frame
FAM221AENSG00000188732ENST00000344962p.K284Kc.852G>ASubstitution - coding silent
ENST00000291567p.R192Hc.575G>ASubstitution - Missense
FAM50AENSG00000071859ENST00000393600p.?c.781-5C>GUnknown
SH3KBP1ENSG00000147010ENST00000397821p.E654*c.1960G>TSubstitution - Nonsense
RAI2ENSG00000131831ENST00000331511p.P415Rc.1244C>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.D1260Dc.3780C>TSubstitution - coding silent
POLA1ENSG00000101868ENST00000379059p.L1346Lc.4036T>CSubstitution - coding silent
CXorf58ENSG00000165182ENST00000379211p.H67Hc.201C>TSubstitution - coding silent
CXorf58ENSG00000165182ENST00000379211p.H67Hc.201C>TSubstitution - coding silent
NM_173495.1p.L718Vc.2152C>GSubstitution - Missense
PROCENSG00000115718ENST00000234071p.K193delKc.572_574delAGADeletion - In frame
KLHL30ENSG00000168427ENST00000409223p.L148Qc.443T>ASubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.L148Qc.443T>ASubstitution - Missense
PRLHENSG00000071677ENST00000165524p.P39Ac.115C>GSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.E995Qc.2983G>CSubstitution - Missense
RUVBL1ENSG00000175792ENST00000322623p.I15Mc.45C>GSubstitution - Missense
RRP7AENSG00000189306ENST00000323013p.P279Pc.837G>CSubstitution - coding silent
ARHGAP8ENSG00000241484ENST00000389774p.G333Cc.997G>TSubstitution - Missense
DHX30ENSG00000132153ENST00000445061p.?c.2576-8C>TUnknown
CSPG5ENSG00000114646ENST00000383738p.H506Dc.1516C>GSubstitution - Missense
RAD17ENSG00000152942ENST00000361732p.R240Qc.719G>ASubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.P603Pc.1809G>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.Q1928Rc.5783A>GSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.S2805Lc.8414C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.A3090Ac.9270T>CSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.E644Kc.1930G>ASubstitution - Missense
NM_139238.1p.E644Kc.1930G>ASubstitution - Missense
ZXDBENSG00000198455ENST00000374888p.P663Pc.1989G>ASubstitution - coding silent
XM_291322.3p.F290Yc.869T>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000340595p.?c.2240_2310+334del405Unknown
ENST00000377747_v68p.P27_Q31delPSCCQc.79_93del15Deletion - In frame
TNS4ENSG00000131746ENST00000254051p.S242Ic.725G>TSubstitution - Missense
APPENSG00000142192ENST00000346798p.?c.1458+9C>TUnknown
PIGPENSG00000185808ENST00000464265p.P22Pc.66A>GSubstitution - coding silent
ENST00000290186p.T97Tc.291G>ASubstitution - coding silent
ARAP2ENSG00000047365ENST00000303965p.?c.3000+9A>GUnknown
RBM15BENSG00000179837ENST00000323686p.I143Lc.427A>CSubstitution - Missense
NPRL2ENSG00000114388ENST00000232501p.Q338Qc.1014G>ASubstitution - coding silent
FRMD1ENSG00000153303ENST00000283309p.A2Ac.6G>ASubstitution - coding silent
GPLD1ENSG00000112293ENST00000230036p.E754Gc.2261A>GSubstitution - Missense
ASB4ENSG00000005981ENST00000325885p.S11Cc.32C>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000297488p.D273Nc.817G>ASubstitution - Missense
MICU3ENSG00000155970ENST00000318063p.L355Fc.1063C>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.D1107Nc.3319G>ASubstitution - Missense
ENSG00000182319ENST00000330777p.A1158Tc.3472G>ASubstitution - Missense
SU_SgK223p.A1160Tc.3478G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.P2004Sc.6010C>TSubstitution - Missense
NM_004133.3p.?c.746-4T>CUnknown
KCNB2ENSG00000182674ENST00000523207p.E522Kc.1564G>ASubstitution - Missense
HAUS1ENSG00000152240ENST00000282058p.D21Dc.63T>CSubstitution - coding silent
ENSG00000173213ENST00000308911p.T107Tc.321A>CSubstitution - coding silent
AURKBENSG00000178999ENST00000585124p.P325Pc.975T>CSubstitution - coding silent
ENST00000526991_v68p.K27Ec.79A>GSubstitution - Missense
GNALENSG00000141404ENST00000334049p.C429Cc.1287C>TSubstitution - coding silent
ENST00000424015p.L174Vc.520C>GSubstitution - Missense
CHMP1BENSG00000255112ENST00000526991p.K27Ec.79A>GSubstitution - Missense
GGTLC1ENSG00000149435ENST00000335694p.G119Sc.355G>ASubstitution - Missense
TTLL9ENSG00000131044ENST00000375938p.?c.70-8C>TUnknown
APMAPENSG00000101474ENST00000217456p.G315Gc.945G>CSubstitution - coding silent
PRMT2ENSG00000160310ENST00000397637p.P161Sc.481C>TSubstitution - Missense
PRMT2ENSG00000160310ENST00000334494p.P161Sc.481C>TSubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.R956Gc.2866A>GSubstitution - Missense
NFE2L2ENSG00000116044ENST00000397062p.D29Vc.86A>TSubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.?c.2175-1G>AUnknown
NOP58ENSG00000055044ENST00000264279p.R133Rc.399T>CSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.S1330Rc.3988A>CSubstitution - Missense
ENST00000388944p.S40Rc.118A>CSubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.?c.2867-3C>GUnknown
CARFENSG00000138380ENST00000320443p.I338Tc.1013T>CSubstitution - Missense
IFT57ENSG00000114446ENST00000264538p.S120Sc.360C>GSubstitution - coding silent
PDIA2ENSG00000185615ENST00000219406p.V394Ec.1181T>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.Q1879*c.5635C>TSubstitution - Nonsense
CREBBPENSG00000005339ENST00000262367p.I1776Mc.5328C>GSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.L1668Lc.5004C>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.K1169Kc.3507G>ASubstitution - coding silent
CTU2ENSG00000174177ENST00000312060p.L475Lc.1423C>TSubstitution - coding silent
JPH3ENSG00000154118ENST00000284262p.Y15Yc.45C>TSubstitution - coding silent
ZNF880ENSG00000221923ENST00000422689p.N201Dc.601A>GSubstitution - Missense
ENSG00000268500ENST00000429354p.E205fs*11c.612delCDeletion - Frameshift
VSTM1ENSG00000189068ENST00000338372p.A33Tc.97G>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.G452Gc.1356C>TSubstitution - coding silent
PRPF6ENSG00000101161ENST00000266079p.V784Mc.2350G>ASubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.R135Cc.403C>TSubstitution - Missense
CHRNA4ENSG00000101204ENST00000370263p.L138Lc.414G>ASubstitution - coding silent
MTMR3ENSG00000100330ENST00000401950p.I737_Q741delIGLHQc.2208_2222del15Deletion - In frame
THOC5ENSG00000100296ENST00000397871p.L233Lc.699C>GSubstitution - coding silent
PLA2G3ENSG00000100078ENST00000215885p.A287Vc.860C>TSubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.G470Rc.1408G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.S295Lc.884C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2534Dc.7601C>ASubstitution - Missense
ZDHHC19ENSG00000163958ENST00000296326p.S168Lc.503C>TSubstitution - Missense
PPA2ENSG00000138777ENST00000341695p.D221Nc.661G>ASubstitution - Missense
IL17RCENSG00000163702ENST00000295981p.V184Vc.552G>ASubstitution - coding silent
KNTC1ENSG00000184445ENST00000333479p.?c.1399-7G>AUnknown
TMEM132CENSG00000181234ENST00000315208p.G617Rc.1849G>ASubstitution - Missense
AACSENSG00000081760ENST00000316519p.S400Cc.1198A>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.T137Mc.410C>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.S365Tc.1093T>ASubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.V307Vc.921G>ASubstitution - coding silent
LRRC53ENSG00000162621ENST00000416014p.A76Ac.228C>TSubstitution - coding silent
C1orf141ENSG00000203963ENST00000371007p.L314Lc.942C>GSubstitution - coding silent
FUBP1ENSG00000162613ENST00000370768p.S11Sc.33T>CSubstitution - coding silent
DLGAP5ENSG00000126787ENST00000247191p.Q324Qc.972A>GSubstitution - coding silent
CLCA2ENSG00000137975ENST00000370565p.Q812Hc.2436A>CSubstitution - Missense
FAM181AENSG00000140067ENST00000267594p.S96Sc.288C>TSubstitution - coding silent
RIN3ENSG00000100599ENST00000216487p.C341Yc.1022G>ASubstitution - Missense
IQCHENSG00000103599ENST00000335894p.?c.386_387+8delAGgtaggtatUnknown
IQCHENSG00000103599ENST00000512104p.?c.386_387+8delAGgtaggtatUnknown
PLEKHO2ENSG00000241839ENST00000323544p.V482Vc.1446G>ASubstitution - coding silent
HFM1ENSG00000162669ENST00000370425p.I668Mc.2004C>GSubstitution - Missense
LATS2ENSG00000150457ENST00000382592p.W818*c.2454G>ASubstitution - Nonsense
NM_014572p.W818*c.2454G>ASubstitution - Nonsense
TMEM255BENSG00000184497ENST00000375353p.C162Cc.486C>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000381946p.Q701Hc.2103G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L6403Ic.19207C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.S4071Ac.12211T>GSubstitution - Missense
NM_003319p.M4244Ic.12732G>CSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.Q1384Kc.4150C>ASubstitution - Missense
ATP6V1HENSG00000047249ENST00000359530p.S332Sc.996C>TSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.S690Tc.2068T>ASubstitution - Missense
NM_000828.2p.S624Yc.1871C>ASubstitution - Missense
PTBP1ENSG00000011304ENST00000356948p.H331Hc.993C>TSubstitution - coding silent
SU_WNK2p.S1360Nc.4079G>ASubstitution - Missense
FGD3ENSG00000127084ENST00000375482p.D363Nc.1087G>ASubstitution - Missense
TRMT2BENSG00000188917ENST00000545398p.T128Mc.383C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.G29Vc.86G>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.P1314Sc.3940C>TSubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.M1Vc.1A>GSubstitution - Missense
ELAC2ENSG00000006744ENST00000338034p.E174Kc.520G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.G270Ec.809G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.G270Ec.809G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.75-3C>TUnknown
TDRD12ENSG00000173809ENST00000444215p.R141Qc.422G>ASubstitution - Missense
SCAF1ENSG00000126461ENST00000360565p.E131Kc.391G>ASubstitution - Missense
CGB2ENSG00000104818ENST00000359342p.T16Ac.46A>GSubstitution - Missense
KLK1ENSG00000167748ENST00000301420p.L172Fc.514C>TSubstitution - Missense
SPIBENSG00000269404ENST00000270632p.S37*c.110C>ASubstitution - Nonsense
ENST00000456956p.P390Pc.1170T>CSubstitution - coding silent
SYCP2ENSG00000196074ENST00000357552p.P1178delPc.3532_3534delCCADeletion - In frame
PCK1ENSG00000124253ENST00000319441p.L261Pc.782T>CSubstitution - Missense
CNTNAP3BENSG00000154529ENST00000377564p.G559Gc.1677G>ASubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000297668p.D206Dc.618C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.R1634Hc.4901G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.R1493Hc.4478G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.R1638Hc.4913G>ASubstitution - Missense
MITFENSG00000187098ENST00000314589p.?c.1113+5G>AUnknown
MITFENSG00000187098ENST00000328528p.?c.1158+5G>AUnknown
TNFRSF10BENSG00000120889ENST00000276431p.R162Tc.485G>CSubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.L951Lc.2853G>TSubstitution - coding silent
GEMIN4ENSG00000179409ENST00000319004p.L951Lc.2853G>TSubstitution - coding silent
ICAM2ENSG00000108622ENST00000449662p.A164Vc.491C>TSubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.T337Mc.1010C>TSubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.T47Ic.140C>TSubstitution - Missense
FLOT2ENSG00000132589ENST00000394908p.?c.1248+4T>AUnknown
TBCDENSG00000141556ENST00000397466p.*312Sc.935G>CNonstop extension
TRAPPC8ENSG00000153339ENST00000283351p.V1138Vc.3414A>TSubstitution - coding silent
BRWD1ENSG00000185658ENST00000333229p.P1795Sc.5383C>TSubstitution - Missense
PNPENSG00000198805ENST00000361505p.?c.462-5C>TUnknown
OR10V1ENSG00000172289ENST00000307552p.L55Pc.164T>CSubstitution - Missense
MS4A4EENSG00000214787ENST00000398986p.V18Mc.52G>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.A591Gc.1772C>GSubstitution - Missense
GALEENSG00000117308ENST00000374497p.?c.988+7G>AUnknown
TCF7L2ENSG00000148737ENST00000543371p.P503Pc.1509T>GSubstitution - coding silent
PNLIPENSG00000175535ENST00000369221p.N336Hc.1006A>CSubstitution - Missense
PNLIPENSG00000175535ENST00000369221p.N336Hc.1006A>CSubstitution - Missense
TDRD1ENSG00000095627ENST00000251864p.L1158Fc.3472C>TSubstitution - Missense
PAX2ENSG00000075891ENST00000361791p.I135Ic.405C>TSubstitution - coding silent
UHRF1BP1LENSG00000111647ENST00000279907p.G116Sc.346G>ASubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000356828p.G116Sc.346G>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.D796Nc.2386G>ASubstitution - Missense
RNF19BENSG00000116514ENST00000373456p.G169Gc.507G>ASubstitution - coding silent
KIAA1522ENSG00000162522ENST00000373480p.P991Sc.2971C>TSubstitution - Missense
MARCKSL1ENSG00000175130ENST00000329421p.Q141Ec.421C>GSubstitution - Missense
GRIK3ENSG00000163873ENST00000373091p.H58Hc.174T>CSubstitution - coding silent
NIT1ENSG00000158793ENST00000368007p.E30Dc.90A>TSubstitution - Missense
LY9ENSG00000122224ENST00000368041p.V339Mc.1015G>ASubstitution - Missense
ENST00000420314p.K1092Kc.3276G>ASubstitution - coding silent
CD48ENSG00000117091ENST00000368046p.E182Qc.544G>CSubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.Y113Cc.338A>GSubstitution - Missense
KIAA1614ENSG00000135835ENST00000367588p.E570Ec.1710G>ASubstitution - coding silent
SWT1ENSG00000116668ENST00000367501p.V252Vc.756C>ASubstitution - coding silent
TRMT1LENSG00000121486ENST00000367506p.G173Gc.519A>CSubstitution - coding silent
TRMT1LENSG00000121486ENST00000367504p.G17Gc.51A>CSubstitution - coding silent
TMPRSS4ENSG00000137648ENST00000437212p.L324Vc.970C>GSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.K1155Kc.3465A>GSubstitution - coding silent
NBPF4ENSG00000196427ENST00000415641p.T633Tc.1899G>ASubstitution - coding silent
LRIG2ENSG00000198799ENST00000361127p.V825Fc.2473G>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.?c.1006+3_1006+6delgagtUnknown
NBPF14ENSG00000122497ENST00000310701p.?c.1023+3_1023+6delgagtUnknown
FAM188AENSG00000148481ENST00000277632p.L365Vc.1093C>GSubstitution - Missense
YME1L1ENSG00000136758ENST00000326799p.L33Lc.99C>GSubstitution - coding silent
ZNF410ENSG00000119725ENST00000555044p.S435Sc.1305T>GSubstitution - coding silent
ACOT4ENSG00000177465ENST00000326303p.L289Fc.865C>TSubstitution - Missense
SNW1ENSG00000100603ENST00000261531p.E93Ec.279A>GSubstitution - coding silent
BLMENSG00000197299ENST00000355112p.E546Dc.1638A>TSubstitution - Missense
ENSG00000234719ENST00000399147p.P366Sc.1096C>TSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.Q193Qc.579G>ASubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.R1308Hc.3923G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000355288p.S752Cc.2255C>GSubstitution - Missense
PALD1ENSG00000107719ENST00000263563p.L744Lc.2232G>CSubstitution - coding silent
SLC22A24ENSG00000197658ENST00000326192p.A193Tc.577G>ASubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.A391Ac.1173G>ASubstitution - coding silent
RPS8ENSG00000142937ENST00000396651p.A118Vc.353C>TSubstitution - Missense
UNC119BENSG00000175970ENST00000344651p.A243Ac.729T>CSubstitution - coding silent
WDR66ENSG00000158023ENST00000288912p.?c.998+5G>TUnknown
KDM2BENSG00000089094ENST00000377071p.V192Mc.574G>ASubstitution - Missense
SCNN1DENSG00000162572ENST00000379116p.R728Qc.2183G>ASubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.S29Cc.86C>GSubstitution - Missense
GLIS1ENSG00000174332ENST00000312233p.R119Wc.355C>TSubstitution - Missense
MEF2AENSG00000068305ENST00000354410p.Q419_Q422delQQQQc.1234_1245del12Deletion - In frame
ENST00000346108p.Q427_Q430delQQQQc.1258_1269del12Deletion - In frame
ITPR2ENSG00000123104ENST00000381340p.P338Ac.1012C>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.D1961Nc.5881G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.D1954Nc.5860G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.D1948Nc.5842G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.D2026Nc.6076G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.D1984Nc.5950G>ASubstitution - Missense
S100A4ENSG00000196154ENST00000368714p.Q56Hc.168G>TSubstitution - Missense
PPFIA4ENSG00000143847ENST00000272198p.H16Hc.48C>TSubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367187p.G1597Ec.4790G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.Q501Hc.1503G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.S1761*c.5282C>GSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.V173Lc.517G>CSubstitution - Missense
ARHGEF5ENSG00000050327ENST00000056217p.D1535Dc.4605C>TSubstitution - coding silent
ENST00000545858p.V80Lc.238G>CSubstitution - Missense
ENST00000414315p.V41Lc.121G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.V173Lc.517G>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.V173Lc.517G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.A3624Ac.10872T>CSubstitution - coding silent
PEG3ENSG00000198300ENST00000326441p.G920Gc.2760C>TSubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.G920Gc.2760C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.K132Nc.396G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.K132Nc.396G>CSubstitution - Missense
ENST00000545858p.K39Nc.117G>CSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.R1749Hc.5246G>ASubstitution - Missense
PDZD11ENSG00000120509ENST00000239666p.P11Pc.33G>ASubstitution - coding silent
C1orf127ENSG00000175262ENST00000377008p.R329Wc.985C>TSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.S793Lc.2378C>TSubstitution - Missense
ZNF525ENSG00000203326ENST00000474037p.Q155*c.463C>TSubstitution - Nonsense
KCNB2ENSG00000182674ENST00000523207p.V198Mc.592G>ASubstitution - Missense
IL15RAENSG00000134470ENST00000379977p.V76Mc.226G>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.R574Hc.1721G>ASubstitution - Missense
PES1ENSG00000100029ENST00000354694p.E270Kc.808G>ASubstitution - Missense
PLIN1ENSG00000166819ENST00000300055p.A136Vc.407C>TSubstitution - Missense
MYEOVENSG00000172927ENST00000308946p.W272fs*>42c.807delGDeletion - Frameshift
TUT1ENSG00000149016ENST00000278279p.R575Qc.1724G>ASubstitution - Missense
SUPT16HENSG00000092201ENST00000216297p.T736Tc.2208G>ASubstitution - coding silent
KIAA1522ENSG00000162522ENST00000401073p.P1050Sc.3148C>TSubstitution - Missense
PLBD2ENSG00000151176ENST00000280800p.P559Pc.1677G>ASubstitution - coding silent
CA1ENSG00000133742ENST00000523953p.L186Fc.556C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R273Hc.818G>ASubstitution - Missense
LYPLAL1ENSG00000143353ENST00000366928p.A17Vc.50C>TSubstitution - Missense
PAHENSG00000171759ENST00000553106p.S250Fc.749C>TSubstitution - Missense
IL24ENSG00000162892ENST00000294984p.L206Fc.616C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.K132Nc.396G>CSubstitution - Missense
NUAK1ENSG00000074590ENST00000261402p.K391Rc.1172A>GSubstitution - Missense
DACH1ENSG00000165659ENST00000305425p.P439Sc.1315C>TSubstitution - Missense
DACH1ENSG00000165659ENST00000359684p.P491Sc.1471C>TSubstitution - Missense
TAS2R10ENSG00000121318ENST00000240619p.I133Vc.397A>GSubstitution - Missense
OAS1ENSG00000089127ENST00000452357p.L287Lc.861G>CSubstitution - coding silent
ZNF25ENSG00000175395ENST00000302609p.R334Qc.1001G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.P413Pc.1239A>GSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000602533p.P413Pc.1239A>GSubstitution - coding silent
GRID1ENSG00000182771ENST00000327946p.A832Tc.2494G>ASubstitution - Missense
VDAC2ENSG00000165637ENST00000313132p.E22Qc.64G>CSubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.R221Qc.662G>ASubstitution - Missense
ACCSLENSG00000205126ENST00000378832p.L301Lc.903C>TSubstitution - coding silent
FCRL2ENSG00000132704ENST00000361516p.E208Kc.622G>ASubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.V779Ic.2335G>ASubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.Q37Qc.111G>ASubstitution - coding silent
EPS8ENSG00000151491ENST00000281172p.Y723Yc.2169C>TSubstitution - coding silent
ZNF268ENSG00000090612ENST00000228289p.K535Kc.1605A>GSubstitution - coding silent
ZNF605ENSG00000196458ENST00000360187p.G361Gc.1083A>CSubstitution - coding silent
ZNF641ENSG00000167528ENST00000301042p.E163Qc.487G>CSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.D1080Hc.3238G>CSubstitution - Missense
GALNT6ENSG00000139629ENST00000356317p.G519Gc.1557G>ASubstitution - coding silent
ARHGEF17ENSG00000110237ENST00000263674p.L1965Lc.5895C>TSubstitution - coding silent
FANCIENSG00000140525ENST00000310775p.E700Kc.2098G>ASubstitution - Missense
FANCIENSG00000140525ENST00000300027p.E700Kc.2098G>ASubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.I99Ic.297C>TSubstitution - coding silent
PSTKENSG00000179988ENST00000368887p.E200Kc.598G>ASubstitution - Missense
BCCIPENSG00000107949ENST00000299130p.Y219Hc.655T>CSubstitution - Missense
BRF1ENSG00000185024ENST00000440513p.?c.1545+6T>GUnknown


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID