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EFM-19 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

538 mutations reported
170 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
RHOT2ENSG00000140983ENST00000315082p.K150Kc.450G>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.P2333Sc.6997C>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000541256p.S486Rc.1456A>CSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.E859Ec.2577A>GSubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.E870Kc.2608G>ASubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.G711Ec.2132G>ASubstitution - Missense
SLCO4A1ENSG00000101187ENST00000370507p.H350Yc.1048C>TSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.P897Sc.2689C>TSubstitution - Missense
CRTAPENSG00000170275ENST00000320954p.H266Dc.796C>GSubstitution - Missense
EPM2AENSG00000112425ENST00000367519p.G127Vc.380G>TSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.A504Tc.1510G>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.L562Lc.1686G>ASubstitution - coding silent
PLAC9ENSG00000189129ENST00000372267p.E58Vc.173A>TSubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.S397Lc.1190C>TSubstitution - Missense
EPM2AENSG00000112425ENST00000450221p.G27*c.79G>TSubstitution - Nonsense
HSPA14ENSG00000187522ENST00000378372p.A85Vc.254C>TSubstitution - Missense
CAPZA1ENSG00000116489ENST00000263168p.N58Nc.174C>TSubstitution - coding silent
IPPENSG00000197429ENST00000359942p.E159*c.475G>TSubstitution - Nonsense
ARHGAP11AENSG00000198826ENST00000361627p.?c.938-1G>AUnknown
MBTPS1ENSG00000140943ENST00000343411p.A788Sc.2362G>TSubstitution - Missense
SLC6A2ENSG00000103546ENST00000219833p.Y98*c.294C>ASubstitution - Nonsense
LMTK2ENSG00000164715ENST00000297293p.S1310Sc.3930G>ASubstitution - coding silent
CUX1ENSG00000257923ENST00000292538p.E241*c.721G>TSubstitution - Nonsense
RABEP2ENSG00000177548ENST00000358201p.G270Rc.808G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.I1644Vc.4930A>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.T1355Kc.4064C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.A281Ec.842C>ASubstitution - Missense
ARSIENSG00000183876ENST00000328668p.P439Pc.1317G>ASubstitution - coding silent
ETV3ENSG00000117036ENST00000368192p.?c.284+1G>AUnknown
TLDC1ENSG00000140950ENST00000343629p.D373Hc.1117G>CSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.D108Hc.322G>CSubstitution - Missense
NUP54ENSG00000138750ENST00000264883p.L474Lc.1422T>CSubstitution - coding silent
NM_014916p.S1310Sc.3930G>ASubstitution - coding silent
ADAM32ENSG00000197140ENST00000379907p.S727Ic.2180G>TSubstitution - Missense
EYSENSG00000188107ENST00000342421p.A486Sc.1456G>TSubstitution - Missense
SLC29A1ENSG00000112759ENST00000371708p.?c.1060-8G>CUnknown
COL23A1ENSG00000050767ENST00000390654p.?c.295-4T>CUnknown
SCN7AENSG00000136546ENST00000409855p.F888Fc.2664C>TSubstitution - coding silent
RC3H2ENSG00000056586ENST00000335387p.Y273Fc.818A>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.R457Kc.1370G>ASubstitution - Missense
C3orf67ENSG00000163689ENST00000482387p.I631Vc.1891A>GSubstitution - Missense
COL23A1ENSG00000050767ENST00000407622p.?c.214-4T>CUnknown
GPRIN2ENSG00000204175ENST00000374317p.D175Nc.523G>ASubstitution - Missense
OR4K13ENSG00000176253ENST00000315693p.L181Ic.541C>ASubstitution - Missense
MXI1ENSG00000119950ENST00000332674p.P47Rc.140C>GSubstitution - Missense
FAM178AENSG00000119906ENST00000238961p.M947Ic.2841G>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.P605Pc.1815C>ASubstitution - coding silent
TOR1AIP2ENSG00000169905ENST00000367612p.V343fs*9c.1027delGDeletion - Frameshift
SIRPAENSG00000198053ENST00000400068p.P489Pc.1467G>TSubstitution - coding silent
MRC2ENSG00000011028ENST00000303375p.R260Kc.779G>ASubstitution - Missense
SLC6A4ENSG00000108576ENST00000261707p.A441Vc.1322C>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.V3938Dc.11813T>ASubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.P27Sc.79C>TSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.R190Sc.568C>ASubstitution - Missense
CCDC101ENSG00000176476ENST00000317058p.T41Tc.123C>TSubstitution - coding silent
DBHENSG00000123454ENST00000393056p.R296Rc.888C>TSubstitution - coding silent
STAT5AENSG00000126561ENST00000345506p.A603Tc.1807G>ASubstitution - Missense
LCA5ENSG00000135338ENST00000392959p.E599*c.1795G>TSubstitution - Nonsense
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
ENSG00000167970ENST00000454671p.K66Tc.197A>CSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.R1031Rc.3093A>GSubstitution - coding silent
EHMT2ENSG00000204371ENST00000375537p.T252Tc.756G>ASubstitution - coding silent
UBR2ENSG00000024048ENST00000372883p.E193Vc.578A>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.P664Pc.1992C>ASubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.E857Kc.2569G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.V2201Lc.6601G>CSubstitution - Missense
FZD4ENSG00000174804ENST00000531380p.K147Ec.439A>GSubstitution - Missense
TSPAN4ENSG00000214063ENST00000397397p.T212Mc.635C>TSubstitution - Missense
ENST00000456955p.L610Ic.1828C>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000262547p.I11Vc.31A>GSubstitution - Missense
ENST00000340028p.G153Sc.457G>ASubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.L382Lc.1146G>ASubstitution - coding silent
NM_001702.1p.?c.3313-6C>TUnknown
SEZ6LENSG00000100095ENST00000248933p.I586Sc.1757T>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.S1578Ic.4733G>TSubstitution - Missense
CTNSENSG00000040531ENST00000381870p.L54Lc.162G>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000373670p.Y273Fc.818A>TSubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.H1047Lc.3140A>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.V3938Dc.11813T>ASubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.E1004*c.3010G>TSubstitution - Nonsense
UVRAGENSG00000198382ENST00000356136p.A682Vc.2045C>TSubstitution - Missense
PDZD8ENSG00000165650ENST00000334464p.T115Ic.344C>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.P127Lc.380C>TSubstitution - Missense
CD164L2ENSG00000174950ENST00000374025p.I46fs*15c.136_137delATDeletion - Frameshift
PKD1L2ENSG00000166473ENST00000525539p.G1648Sc.4942G>ASubstitution - Missense
FBXW9ENSG00000132004ENST00000393261p.L270Lc.810G>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.P236Pc.708G>CSubstitution - coding silent
STX4ENSG00000103496ENST00000313843p.I162Sc.485T>GSubstitution - Missense
ENC1ENSG00000171617ENST00000302351p.A533Ac.1599T>CSubstitution - coding silent
THADAENSG00000115970ENST00000405975p.I451Fc.1351A>TSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.R328Sc.982C>ASubstitution - Missense
ACACAENSG00000132142ENST00000360679p.I886Mc.2658C>GSubstitution - Missense
CDH1ENSG00000039068ENST00000261769p.N674Yc.2020A>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
RC3H2ENSG00000056586ENST00000423239p.Y273Fc.818A>TSubstitution - Missense
FBXW9ENSG00000132004ENST00000380339p.L270Lc.810G>TSubstitution - coding silent
SMC6ENSG00000163029ENST00000381272p.I756Tc.2267T>CSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.K1086Kc.3258G>ASubstitution - coding silent
ENST00000414315p.H61Rc.182A>GSubstitution - Missense
PTPN11ENSG00000179295ENST00000351677p.R512Pc.1535G>CSubstitution - Missense
TIMELESSENSG00000111602ENST00000553532p.P1101Pc.3303A>CSubstitution - coding silent
ETV3ENSG00000117036ENST00000326786p.?c.284+1G>AUnknown
DHHENSG00000139549ENST00000266991p.Y45Yc.135C>TSubstitution - coding silent
ARHGAP11BENSG00000187951ENST00000563110p.?c.288_297+3delAGCACTAAAGgtgUnknown
ENST00000291374p.R286Hc.857G>ASubstitution - Missense
GNAT2ENSG00000134183ENST00000351050p.I221Sc.662T>GSubstitution - Missense
SIRPAENSG00000198053ENST00000356025p.P485Pc.1455G>TSubstitution - coding silent
TAC4ENSG00000176358ENST00000334568p.I37Tc.110T>CSubstitution - Missense
DCAF12L1ENSG00000198889ENST00000371126p.K99Nc.297G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S11056Cc.33166A>TSubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.G259Gc.777G>CSubstitution - coding silent
UBAP2ENSG00000137073ENST00000379238p.S1053Lc.3158C>TSubstitution - Missense
SLC6A2ENSG00000103546ENST00000379906p.Y98*c.294C>ASubstitution - Nonsense
ENST00000330166p.V3333fs*4c.9996delGDeletion - Frameshift
CSMD3ENSG00000164796ENST00000297405p.R10Rc.30A>TSubstitution - coding silent
TRIM37ENSG00000108395ENST00000262294p.E100*c.298G>TSubstitution - Nonsense
TAAR1ENSG00000146399ENST00000275216p.L277Ic.829C>ASubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.V453Lc.1357G>CSubstitution - Missense
EPRSENSG00000136628ENST00000366923p.G389Cc.1165G>TSubstitution - Missense
ITPRIPL2ENSG00000205730ENST00000381440p.F484Fc.1452C>TSubstitution - coding silent
KARSENSG00000065427ENST00000319410p.E553Gc.1658A>GSubstitution - Missense
KARSENSG00000065427ENST00000302445p.E525Gc.1574A>GSubstitution - Missense
HS2ST1ENSG00000153936ENST00000370550p.R270Rc.810G>TSubstitution - coding silent
NM_000828.2p.S115Fc.344C>TSubstitution - Missense
ENST00000300671p.T1829Tc.5487C>TSubstitution - coding silent
MED25ENSG00000104973ENST00000312865p.L226Fc.676C>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.V70Vc.210G>ASubstitution - coding silent
AZI1ENSG00000141577ENST00000450824p.?c.1773+9G>CUnknown
ZFAND1ENSG00000104231ENST00000220669p.E102Vc.305A>TSubstitution - Missense
SDHAENSG00000073578ENST00000264932p.V425Lc.1273G>CSubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.G44Gc.132C>TSubstitution - coding silent
CYP27A1ENSG00000135929ENST00000258415p.L189Vc.565C>GSubstitution - Missense
TSC22D4ENSG00000166925ENST00000300181p.S2Sc.6C>TSubstitution - coding silent
AMER3ENSG00000178171ENST00000321420p.P714Tc.2140C>ASubstitution - Missense
CELENSG00000170835ENST00000372080p.A246Vc.737C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.C950*c.2850C>ASubstitution - Nonsense
FAM135BENSG00000147724ENST00000395297p.R457Kc.1370G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.G569Rc.1705G>ASubstitution - Missense
OR4A5ENSG00000221840ENST00000319760p.V81Ac.242T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.P6167Lc.18500C>TSubstitution - Missense
SPAG16ENSG00000144451ENST00000331683p.P319Sc.955C>TSubstitution - Missense
FAM124AENSG00000150510ENST00000280057p.G92Rc.274G>ASubstitution - Missense
CELA2AENSG00000142615ENST00000359621p.R254Qc.761G>ASubstitution - Missense
MAP10ENSG00000212916ENST00000418460p.P337Ac.1009C>GSubstitution - Missense
LGR4ENSG00000205213ENST00000379214p.S478fs*2c.1432_1455>GComplex - frameshift
OR2L8ENSG00000196936ENST00000357191p.T257Tc.771T>ASubstitution - coding silent
KIR3DL3ENSG00000242019ENST00000291860p.L343Pc.1028T>CSubstitution - Missense
PPIL3ENSG00000240344ENST00000286175p.N86Dc.256A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.S1578Ic.4733G>TSubstitution - Missense
CRYBA2ENSG00000163499ENST00000392096p.G73Ec.218G>ASubstitution - Missense
ZNF429ENSG00000197013ENST00000358491p.W352*c.1055G>ASubstitution - Nonsense
EYSENSG00000188107ENST00000370621p.A486Sc.1456G>TSubstitution - Missense
GTPBP1ENSG00000100226ENST00000458073p.K26Tc.77A>CSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.V726Gc.2177T>GSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.R194*c.580C>TSubstitution - Nonsense
CCDC39ENSG00000145075ENST00000273654p.A293fs*23c.876delADeletion - Frameshift
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
ENST00000373969p.N156Kc.468T>GSubstitution - Missense
MTHFD1ENSG00000100714ENST00000216605p.?c.295-1G>AUnknown
PDE6CENSG00000095464ENST00000371447p.E636Ec.1908G>ASubstitution - coding silent
STRAPENSG00000023734ENST00000419869p.G119fs*11c.352delGDeletion - Frameshift
OR6Y1ENSG00000197532ENST00000302617p.L44Lc.132G>TSubstitution - coding silent
MUS81ENSG00000172732ENST00000308110p.?c.351+1G>TUnknown
ZMYND12ENSG00000066185ENST00000372565p.K229Mc.686A>TSubstitution - Missense
NTNG1ENSG00000162631ENST00000370074p.N375Nc.1125C>TSubstitution - coding silent
MIER1ENSG00000198160ENST00000355356p.?c.34+4A>CUnknown
USP10ENSG00000103194ENST00000219473p.L716Lc.2148G>TSubstitution - coding silent
CEP41ENSG00000106477ENST00000223208p.L76Vc.226C>GSubstitution - Missense
C3orf67ENSG00000163689ENST00000295966p.I505Vc.1513A>GSubstitution - Missense
ALOX15BENSG00000179593ENST00000380183p.K180Nc.540G>TSubstitution - Missense
CXCL6ENSG00000124875ENST00000226317p.G13Ac.38G>CSubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.V839Vc.2517G>ASubstitution - coding silent
PPIL3ENSG00000240344ENST00000392283p.N82Dc.244A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.I1604Vc.4810A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.D2470Yc.7408G>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.Q559Kc.1675C>ASubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.V1632Lc.4894G>CSubstitution - Missense
ENST00000369212_v70p.T47Ac.139A>GSubstitution - Missense
NM_006218.1p.H1047Lc.3140A>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000357555p.K570Ec.1708A>GSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.V1834Ic.5500G>ASubstitution - Missense
H6PDENSG00000049239ENST00000377403p.?c.628-8C>AUnknown
PREX2ENSG00000046889ENST00000288368p.E1357*c.4069G>TSubstitution - Nonsense
ROS1ENSG00000047936ENST00000368507p.S560Fc.1679C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.K1069Kc.3207G>ASubstitution - coding silent
XKR6ENSG00000171044ENST00000416569p.L365Vc.1093C>GSubstitution - Missense
PRXENSG00000105227ENST00000324001p.?c.1_5delATGGAUnknown
PLCH1ENSG00000114805ENST00000494598p.E338Ec.1014G>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.L630Lc.1890G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.H193Rc.578A>GSubstitution - Missense
FGFR2ENSG00000066468ENST00000358487p.K659Ec.1975A>GSubstitution - Missense
FGFR2ENSG00000066468ENST00000351936p.K657Ec.1969A>GSubstitution - Missense
ENSG00000180574ENST00000322446p.P168Pc.504T>ASubstitution - coding silent
MICAL2ENSG00000133816ENST00000379612p.S547Gc.1639A>GSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.E863_E866delEEEEc.2565_2576del12Deletion - In frame
FLGENSG00000143631ENST00000368799p.P812Lc.2435C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.Q2059Kc.6175C>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.P1168Lc.3503C>TSubstitution - Missense
KRTAP9-2ENSG00000239886ENST00000377721p.C86Fc.257G>TSubstitution - Missense
TPD52ENSG00000076554ENST00000379097p.V201_S204delVLNSc.602_613del12Deletion - In frame
NM_007023.1p.?c.537+1G>AUnknown
ENST00000231589p.I109Vc.325A>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.T1355Kc.4064C>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.K2599Rc.7796A>GSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.G569Rc.1705G>ASubstitution - Missense
ENSG00000180574ENST00000538173p.A154Ac.462A>GSubstitution - coding silent
CHRNB4ENSG00000117971ENST00000261751p.G296Gc.888C>ASubstitution - coding silent
ACSL5ENSG00000197142ENST00000356116p.R584Rc.1752C>ASubstitution - coding silent
VASH1ENSG00000071246ENST00000167106p.Y128Cc.383A>GSubstitution - Missense
SYPL2ENSG00000143028ENST00000369872p.W231Gc.691T>GSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.K1023Kc.3069G>ASubstitution - coding silent
ENST00000331986p.H871Yc.2611C>TSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.K260Ec.778A>GSubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.R264Hc.791G>ASubstitution - Missense
RHBDD3ENSG00000100263ENST00000216085p.?c.984-3C>TUnknown
SYNE1ENSG00000131018ENST00000265368p.P6555Lc.19664C>TSubstitution - Missense
RPS6ENSG00000137154ENST00000380394p.L15Lc.45C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000457511p.G429Gc.1287G>ASubstitution - coding silent
KIAA0226LENSG00000102445ENST00000322896p.G80Rc.238G>CSubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.N476Nc.1428C>TSubstitution - coding silent
MIER1ENSG00000198160ENST00000357692p.?c.85+4A>CUnknown
MIER1ENSG00000198160ENST00000371014p.?c.193+4A>CUnknown
SDR39U1ENSG00000100445ENST00000399395p.?c.473-10C>TUnknown
NKD1ENSG00000140807ENST00000268459p.S109Sc.327C>TSubstitution - coding silent
SUZ12ENSG00000178691ENST00000322652p.?c.274+8T>CUnknown
STAT5AENSG00000126561ENST00000452307p.A600Tc.1798G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.T1820Tc.5460C>TSubstitution - coding silent
DNAH17-AS1ENSG00000268470ENST00000598378p.G153Sc.457G>ASubstitution - Missense
ENST00000335056_v70p.G259Gc.777G>CSubstitution - coding silent
DZANK1ENSG00000089091ENST00000329494p.I11Vc.31A>GSubstitution - Missense
MDH1BENSG00000138400ENST00000392214p.E87Dc.261G>TSubstitution - Missense
ANKMY1ENSG00000144504ENST00000405523p.L355Pc.1064T>CSubstitution - Missense
THADAENSG00000115970ENST00000330266p.I161Fc.481A>TSubstitution - Missense
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.P6484Lc.19451C>TSubstitution - Missense
EPM2AENSG00000112425ENST00000435470p.G47*c.139G>TSubstitution - Nonsense
EHMT2ENSG00000204371ENST00000395728p.T309Tc.927G>ASubstitution - coding silent
SLC29A1ENSG00000112759ENST00000313248p.?c.1297-8G>CUnknown
CADPS2ENSG00000081803ENST00000313070p.P1127Lc.3380C>TSubstitution - Missense
BRINP1ENSG00000078725ENST00000373964p.N156Kc.468T>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.C623*c.1869C>ASubstitution - Nonsense
GRIA3ENSG00000125675ENST00000541091p.S99Fc.296C>TSubstitution - Missense
SDR39U1ENSG00000100445ENST00000399390p.?c.188-10C>TUnknown
ATP10DENSG00000145246ENST00000273859p.?c.2541+10C>TUnknown
ANKMY1ENSG00000144504ENST00000361678p.L355Pc.1064T>CSubstitution - Missense
C22orf31ENSG00000100249ENST00000216071p.S73Sc.219C>TSubstitution - coding silent
HDAC4ENSG00000068024ENST00000345617p.S512Rc.1534A>CSubstitution - Missense
YTHDF1ENSG00000149658ENST00000370339p.V476Vc.1428C>TSubstitution - coding silent
EPN1ENSG00000063245ENST00000270460p.G297Dc.890G>ASubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.A314Vc.941C>TSubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.P1030Pc.3090G>CSubstitution - coding silent
KDM1AENSG00000004487ENST00000542151p.N283Tc.848A>CSubstitution - Missense
RPS6ENSG00000137154ENST00000380381p.L15Lc.45C>TSubstitution - coding silent
PLECENSG00000178209ENST00000356346p.V3924Dc.11771T>ASubstitution - Missense
KMOENSG00000117009ENST00000366559p.K179Kc.537G>ASubstitution - coding silent
VASH1ENSG00000071246ENST00000554237p.Y128Cc.383A>GSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.E1406Kc.4216G>ASubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.R1346Sc.4038G>CSubstitution - Missense
ENSG00000267561ENST00000370548p.R244Rc.732G>TSubstitution - coding silent
GRIA3ENSG00000125675ENST00000371256p.S115Fc.344C>TSubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.G255Gc.765G>ASubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.V70Vc.210G>ASubstitution - coding silent
PLECENSG00000178209ENST00000354958p.V3916Dc.11747T>ASubstitution - Missense
ZSCAN5CENSG00000204532ENST00000534327p.K428Nc.1284G>CSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.?c.1366-5A>TUnknown
WBSCR28ENSG00000175877ENST00000320531p.T222Tc.666G>ASubstitution - coding silent
ATP1B3ENSG00000069849ENST00000286371p.V88Mc.262G>ASubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.E851Gc.2552A>GSubstitution - Missense
FAHD1ENSG00000180185ENST00000382666p.S132Sc.396C>TSubstitution - coding silent
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H193Rc.578A>GSubstitution - Missense
IL20ENSG00000162891ENST00000367098p.G45Vc.134G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.Q3958Ec.11872C>GSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.Q684Lc.2051A>TSubstitution - Missense
SMAD9ENSG00000120693ENST00000350148p.H294fs*2c.881delADeletion - Frameshift
ENST00000415091p.R286Hc.857G>ASubstitution - Missense
DBX1ENSG00000109851ENST00000227256p.D210Ec.630C>ASubstitution - Missense
DTWD1ENSG00000104047ENST00000403028p.G196Dc.587G>ASubstitution - Missense
ATG4CENSG00000125703ENST00000317868p.W231Cc.693G>CSubstitution - Missense
DZANK1ENSG00000089091ENST00000262547p.I11Vc.31A>GSubstitution - Missense
LRCH2ENSG00000130224ENST00000317135p.D346Ec.1038C>ASubstitution - Missense
ABCE1ENSG00000164163ENST00000296577p.D280Yc.838G>TSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.Y333Sc.998A>CSubstitution - Missense
EDIL3ENSG00000164176ENST00000296591p.V125Ic.373G>ASubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.T47Ac.139A>GSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.*1097*c.3291A>GSubstitution - coding silent
CYTH4ENSG00000100055ENST00000248901p.P304Ac.910C>GSubstitution - Missense
GTPBP1ENSG00000100226ENST00000216044p.K448Tc.1343A>CSubstitution - Missense
ZUFSPENSG00000153975ENST00000368576p.Q279delQc.836_838delAACDeletion - In frame
DCBLD1ENSG00000164465ENST00000296955p.S103Ic.308G>TSubstitution - Missense
DCBLD1ENSG00000164465ENST00000338728p.S103Ic.308G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.D2510Yc.7528G>TSubstitution - Missense
USP17L2ENSG00000223443ENST00000333796p.A403Ec.1208C>ASubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.Q431Pc.1292A>CSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.K1075Kc.3225G>ASubstitution - coding silent
ATAD5ENSG00000176208ENST00000321990p.?c.3233+57_3608-2287del8231Unknown
TMEM132EENSG00000181291ENST00000321639p.V433Ic.1297G>ASubstitution - Missense
CTNSENSG00000040531ENST00000046640p.L54Lc.162G>TSubstitution - coding silent
ACACAENSG00000132142ENST00000353139p.I981Mc.2943C>GSubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.R152Qc.455G>ASubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.A209fs*23c.624delADeletion - Frameshift
PRUNE2ENSG00000106772ENST00000376718p.T341Tc.1023T>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.Q559Kc.1675C>ASubstitution - Missense
CYP2A6ENSG00000255974ENST00000301141p.Q239*c.715C>TSubstitution - Nonsense
PRXENSG00000105227ENST00000291825p.?c.1_5delATGGAUnknown
MAGEA3ENSG00000221867ENST00000370278p.L309Fc.927G>TSubstitution - Missense
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
DNAJB9ENSG00000128590ENST00000249356p.F179Fc.537T>CSubstitution - coding silent
CLCN1ENSG00000188037ENST00000343257p.Y517Fc.1550A>TSubstitution - Missense
OR10H3ENSG00000171936ENST00000305892p.P264Sc.790C>TSubstitution - Missense
ZNF155ENSG00000204920ENST00000270014p.E173Kc.517G>ASubstitution - Missense
SRSF6ENSG00000124193ENST00000244020p.D158Nc.472G>ASubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.A6Ac.18G>ASubstitution - coding silent
ZNF334ENSG00000198185ENST00000347606p.A447Tc.1339G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.L562Lc.1686G>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.L562Lc.1686G>ASubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
LZTR1ENSG00000099949ENST00000215739p.T181Pc.541A>CSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.S773Lc.2318C>TSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.F888Fc.2664C>TSubstitution - coding silent
UBR3ENSG00000144357ENST00000392632p.V485Lc.1453G>CSubstitution - Missense
KIAA0196ENSG00000164961ENST00000318410p.?c.979-10_979-1delatttgtcaagUnknown
DENND3ENSG00000105339ENST00000262585p.A332Tc.994G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.G569Rc.1705G>ASubstitution - Missense
CHRDENSG00000090539ENST00000204604p.C814*c.2442C>ASubstitution - Nonsense
WDR17ENSG00000150627ENST00000280190p.C399Yc.1196G>ASubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.I985Vc.2953A>GSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.R1075Rc.3223C>ASubstitution - coding silent
NM_052909.1p.R266Rc.796C>ASubstitution - coding silent
CCNOENSG00000152669ENST00000282572p.?c.567+4C>GUnknown
HLA-DPA1ENSG00000231389ENST00000419277p.R16Kc.47G>ASubstitution - Missense
ZBTB22ENSG00000236104ENST00000418724p.P203Sc.607C>TSubstitution - Missense
RCAN2ENSG00000172348ENST00000330430p.L110Lc.330C>ASubstitution - coding silent
RCAN2ENSG00000172348ENST00000371374p.L156Lc.468C>ASubstitution - coding silent
ITFG3ENSG00000167930ENST00000450082p.S21Lc.62C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.S21Lc.62C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.H193Rc.578A>GSubstitution - Missense
FAM178AENSG00000119906ENST00000370269p.M947Ic.2841G>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000369056p.K660Ec.1978A>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.C651Cc.1953C>TSubstitution - coding silent
ENST00000349637p.P2336Sc.7006C>TSubstitution - Missense
UVRAGENSG00000198382ENST00000538870p.A238Vc.713C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.G917Gc.2751G>ASubstitution - coding silent
C4orf40ENSG00000187533ENST00000344526p.P50Pc.150T>CSubstitution - coding silent
KRTAP24-1ENSG00000188694ENST00000340345p.P88Pc.264G>TSubstitution - coding silent
SETD4ENSG00000185917ENST00000399215p.W339Rc.1015T>CSubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.V839Vc.2517G>ASubstitution - coding silent
KIF13AENSG00000137177ENST00000259711p.V839Vc.2517G>ASubstitution - coding silent
NM_001702.1p.?c.3313-4G>CUnknown
PLECENSG00000178209ENST00000322810p.V4075Dc.12224T>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.V3965Dc.11894T>ASubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.Y384Hc.1150T>CSubstitution - Missense
TPD52ENSG00000076554ENST00000518937p.V184_S187delVLNSc.551_562del12Deletion - In frame
AFG3L2ENSG00000141385ENST00000269143p.D304Nc.910G>ASubstitution - Missense
NLRP2ENSG00000022556ENST00000543010p.T516Ac.1546A>GSubstitution - Missense
ITGA6ENSG00000091409ENST00000264106p.D290Nc.868G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.I730Tc.2189T>CSubstitution - Missense
RAD51AP2ENSG00000214842ENST00000399080p.C779Yc.2336G>ASubstitution - Missense
ANKMY1ENSG00000144504ENST00000391987p.L496Pc.1487T>CSubstitution - Missense
ENST00000407030p.K119Nc.357G>TSubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.S396Lc.1187C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.P1908Lc.5723C>TSubstitution - Missense
CABLES2ENSG00000149679ENST00000279101p.?c.605+1G>AUnknown
EIF4ENIF1ENSG00000184708ENST00000397525p.?c.2207-7C>TUnknown
CCDC157ENSG00000187860ENST00000338306p.V675Gc.2024T>GSubstitution - Missense
ENST00000600108p.K138Nc.414G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.S1578Ic.4733G>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.?c.1366-5A>TUnknown
JADE3ENSG00000102221ENST00000397189p.E191Ec.573A>GSubstitution - coding silent
SHROOM4ENSG00000158352ENST00000289292p.A199Sc.595G>TSubstitution - Missense
EPN1ENSG00000063245ENST00000411543p.G383Dc.1148G>ASubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.T1477Ac.4429A>GSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.C333fs*26c.996_997delATDeletion - Frameshift
PEG3ENSG00000198300ENST00000326441p.R1280Kc.3839G>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.R1280Kc.3839G>ASubstitution - Missense
C17orf77ENSG00000182352ENST00000392620p.H148Hc.444C>TSubstitution - coding silent
SOX9ENSG00000125398ENST00000245479p.P501Ac.1501C>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.E3255Dc.9765A>CSubstitution - Missense
CCNL1ENSG00000163660ENST00000295926p.K359Rc.1076A>GSubstitution - Missense
GMPSENSG00000163655ENST00000496455p.L401Vc.1201T>GSubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.E338Ec.1014G>ASubstitution - coding silent
PLCH1ENSG00000114805ENST00000447496p.E338Ec.1014G>ASubstitution - coding silent
RSRC1ENSG00000174891ENST00000295930p.R49Ic.146G>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.V3333fs*4c.9996delGDeletion - Frameshift
PRDM5ENSG00000138738ENST00000264808p.A332fs*4c.994delGDeletion - Frameshift
TBC1D9BENSG00000197226ENST00000356834p.P1086Pc.3258A>GSubstitution - coding silent
TBC1D9BENSG00000197226ENST00000355235p.P1069Pc.3207A>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.P6555Lc.19664C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.P6484Lc.19451C>TSubstitution - Missense
ENST00000367213p.S477Rc.1431C>ASubstitution - Missense
RSPH3ENSG00000130363ENST00000252655p.C87Cc.261C>TSubstitution - coding silent
NOD1ENSG00000106100ENST00000222823p.R223Qc.668G>ASubstitution - Missense
TIA1ENSG00000116001ENST00000433529p.A163Tc.487G>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.F338fs*9c.1014_1023del10Deletion - Frameshift
CELSR1ENSG00000075275ENST00000262738p.L1798Lc.5392T>CSubstitution - coding silent
TRMUENSG00000100416ENST00000290846p.G242Rc.724G>CSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.E689Vc.2066A>TSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.E230*c.688G>TSubstitution - Nonsense
CCDC9ENSG00000105321ENST00000221922p.?c.946_949+11>CATAAUnknown
CD19ENSG00000177455ENST00000324662p.G521Rc.1561G>ASubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.H1112Nc.3334C>ASubstitution - Missense
C3orf30ENSG00000163424ENST00000295622p.K465Ec.1393A>GSubstitution - Missense
ARHGAP31ENSG00000031081ENST00000264245p.V969Lc.2905G>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
AMOTL2ENSG00000114019ENST00000249883p.H271Hc.813C>TSubstitution - coding silent
PIK3CBENSG00000051382ENST00000477593p.Q637Qc.1911A>GSubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.V881Mc.2641G>ASubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.A531Ec.1592C>ASubstitution - Missense
GALNT16ENSG00000100626ENST00000337827p.G198Rc.592G>CSubstitution - Missense
GALNT16ENSG00000100626ENST00000553669p.G198Rc.592G>CSubstitution - Missense
TTLL5ENSG00000119685ENST00000298832p.A183Tc.547G>ASubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.?c.5154-1G>CUnknown
ENST00000440800p.V232Ic.694G>ASubstitution - Missense
PRKCQENSG00000065675ENST00000263125p.R703Qc.2108G>ASubstitution - Missense
MUS81ENSG00000172732ENST00000308110p.?c.351+1G>TUnknown
RIMS3ENSG00000117016ENST00000372683p.A269Ac.807G>ASubstitution - coding silent
KCNQ4ENSG00000117013ENST00000347132p.S229Sc.687A>CSubstitution - coding silent
ATP6V0BENSG00000117410ENST00000472174p.?c.201-10C>TUnknown
RAB35ENSG00000111737ENST00000432953p.E21_P23delEVPc.61_69delGAGGTTCCTDeletion - In frame
ADAM30ENSG00000134249ENST00000369400p.S224Cc.671C>GSubstitution - Missense
CGNENSG00000143375ENST00000271636p.Q1138Rc.3413A>GSubstitution - Missense
IPPENSG00000197429ENST00000396478p.E159*c.475G>TSubstitution - Nonsense
ZCCHC11ENSG00000134744ENST00000257177p.?c.1266+3A>GUnknown
FAM177A1ENSG00000151327ENST00000280987p.E218Qc.652G>CSubstitution - Missense
FAM177A1ENSG00000151327ENST00000396472p.E195Qc.583G>CSubstitution - Missense
C2CD5ENSG00000111731ENST00000333957p.Q442*c.1324C>TSubstitution - Nonsense
C2CD5ENSG00000111731ENST00000544930p.Q257*c.769C>TSubstitution - Nonsense
ENST00000266524p.V1378fs*53c.4131delADeletion - Frameshift
S100A14ENSG00000189334ENST00000476873p.D76Ac.227A>CSubstitution - Missense
PGLYRP3ENSG00000159527ENST00000290722p.S74Sc.222C>TSubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.V1834Ic.5500G>ASubstitution - Missense
ENST00000331998p.S141Pc.421T>CSubstitution - Missense
CD164L2ENSG00000174950ENST00000374027p.I46fs*15c.136_137delATDeletion - Frameshift
ATG4CENSG00000125703ENST00000371120p.W231Cc.693G>CSubstitution - Missense
MIER1ENSG00000198160ENST00000401041p.?c.193+4A>CUnknown
SLC44A5ENSG00000137968ENST00000370855p.G248Sc.742G>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.G248Sc.742G>ASubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.V864Gc.2591T>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.V836Gc.2507T>GSubstitution - Missense
C14orf39ENSG00000179008ENST00000321731p.N162fs*5c.486_489delTGAADeletion - Frameshift
MTHFD1ENSG00000100714ENST00000555709p.?c.127-1G>AUnknown
SYNE2ENSG00000054654ENST00000358025p.K1815Rc.5444A>GSubstitution - Missense
GPR65ENSG00000140030ENST00000267549p.I25Ic.75T>CSubstitution - coding silent
ENSG00000117598ENST00000263177p.L8Ic.22C>ASubstitution - Missense
ENSG00000117600ENST00000370185p.S109Gc.325A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.G917Gc.2751G>ASubstitution - coding silent
ING1ENSG00000153487ENST00000375774p.A12Vc.35C>TSubstitution - Missense
CHST14ENSG00000169105ENST00000306243p.L137Lc.411G>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.H5238Yc.15712C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H5238Yc.15712C>TSubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.R370Lc.1109G>TSubstitution - Missense
MDH1BENSG00000138400ENST00000374412p.E87Dc.261G>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.Q2059Kc.6175C>ASubstitution - Missense
NM_020871.2p.D346Ec.1038C>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.S115Fc.344C>TSubstitution - Missense
ENST00000361576p.D535Nc.1603G>ASubstitution - Missense
ENST00000331986p.S6689Cc.20065A>TSubstitution - Missense
HIATL2ENSG00000196312ENST00000375223p.P111Pc.333C>TSubstitution - coding silent
SENP3ENSG00000161956ENST00000429205p.P216Sc.646C>TSubstitution - Missense
CANT1ENSG00000171302ENST00000392446p.R306Cc.916C>TSubstitution - Missense
ENST00000312881p.L226Fc.676C>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.P151Pc.453C>TSubstitution - coding silent
ZNF831ENSG00000124203ENST00000371030p.P147Pc.441G>ASubstitution - coding silent
MTG2ENSG00000101181ENST00000370823p.?c.204+1G>TUnknown
ANKRD18BENSG00000230453ENST00000290943p.L695Lc.2085G>TSubstitution - coding silent
ENST00000357927_v68p.L76Lc.228G>TSubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.A640Tc.1918G>ASubstitution - Missense
AZI1ENSG00000141577ENST00000374782p.?c.1773+9G>CUnknown
ANKRD36CENSG00000174501ENST00000456556p.T466Ic.1397C>TSubstitution - Missense
NPFFR2ENSG00000056291ENST00000308744p.D94Gc.281A>GSubstitution - Missense
PLCH1ENSG00000114805ENST00000334686p.E320Ec.960G>ASubstitution - coding silent
ITFG3ENSG00000167930ENST00000301678p.S21Lc.62C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H193Rc.578A>GSubstitution - Missense
ENST00000545858p.H100Rc.299A>GSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.S551Fc.1652C>TSubstitution - Missense
KCNJ14ENSG00000182324ENST00000391884p.V269Mc.805G>ASubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.R897Qc.2690G>ASubstitution - Missense
ENST00000256007p.R897Qc.2690G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000457416p.K660Ec.1978A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H193Rc.578A>GSubstitution - Missense
FCAMRENSG00000162897ENST00000324852p.R356Gc.1066A>GSubstitution - Missense
ENST00000367087p.R332Gc.994A>GSubstitution - Missense
IL20ENSG00000162891ENST00000367098p.G45Gc.135A>TSubstitution - coding silent
KCTD3ENSG00000136636ENST00000259154p.P104Qc.311C>ASubstitution - Missense
ENSG00000180574ENST00000322446p.A154Ac.462A>GSubstitution - coding silent
ENSG00000180574ENST00000538173p.P168Pc.504T>ASubstitution - coding silent
ATP2A2ENSG00000174437ENST00000539276p.E825Ec.2475A>GSubstitution - coding silent
IPO5ENSG00000065150ENST00000261574p.N387Ic.1160A>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.P1477Sc.4429C>TSubstitution - Missense
OR13A1ENSG00000256574ENST00000553795p.K313Rc.938A>GSubstitution - Missense
ZNF487ENSG00000243660ENST00000431662p.G338Ac.1013G>CSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.D1415Yc.4243G>TSubstitution - Missense
PLAC9ENSG00000189129ENST00000372263p.*98Cc.294A>TNonstop extension
KCNMA1ENSG00000156113ENST00000406533p.C718Cc.2154C>TSubstitution - coding silent
MICAL2ENSG00000133816ENST00000256194p.S547Gc.1639A>GSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.?c.762+7T>AUnknown
ANO9ENSG00000185101ENST00000332826p.?c.1490+9C>TUnknown
IQGAP3ENSG00000183856ENST00000361170p.A793Tc.2377G>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.S353Sc.1059C>TSubstitution - coding silent
MAP10ENSG00000212916ENST00000418460p.P337Ac.1009C>GSubstitution - Missense
KDM1AENSG00000004487ENST00000356634p.N263Tc.788A>CSubstitution - Missense
KDM1AENSG00000004487ENST00000400181p.N283Tc.848A>CSubstitution - Missense
ZNF84ENSG00000198040ENST00000392319p.E171*c.511G>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.Q4228Ec.12682C>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.P1797Pc.5391C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.P1797Pc.5391C>TSubstitution - coding silent
ENST00000336353p.?c.548-10C>TUnknown
CD5ENSG00000110448ENST00000347785p.G167Sc.499G>ASubstitution - Missense
MS4A14ENSG00000166928ENST00000300187p.P259Pc.777C>GSubstitution - coding silent
MTL5ENSG00000132749ENST00000255087p.V211Lc.631G>TSubstitution - Missense
NUDT4ENSG00000173598ENST00000337179p.S155Ac.463T>GSubstitution - Missense
ENST00000359455p.Q40Kc.118C>ASubstitution - Missense
IL22RA1ENSG00000142677ENST00000270800p.T369fs*72c.1106_1113CCCCCGAA>GComplex - frameshift
MAML2ENSG00000184384ENST00000524717p.S1010Pc.3028T>CSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.L75Ic.223C>ASubstitution - Missense
ANO4ENSG00000151572ENST00000538618p.L276Ic.826C>ASubstitution - Missense
METTL18ENSG00000171806ENST00000303469p.S29Sc.87C>TSubstitution - coding silent
SMAD9ENSG00000120693ENST00000379826p.H331fs*2c.992delADeletion - Frameshift
ENSG00000270149ENST00000289779p.?c.241+8G>TUnknown
UFC1ENSG00000143222ENST00000368003p.D85Dc.255C>TSubstitution - coding silent
TPH1ENSG00000129167ENST00000341556p.L453Vc.1357C>GSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.G810Gc.2430C>GSubstitution - coding silent
ADMENSG00000148926ENST00000278175p.P70Sc.208C>TSubstitution - Missense
GUCY1A2ENSG00000152402ENST00000526355p.A314Vc.941C>TSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.D1461Dc.4383C>TSubstitution - coding silent
DBX1ENSG00000109851ENST00000227256p.?c.367+9G>AUnknown
NTNG1ENSG00000162631ENST00000370068p.N476Nc.1428C>TSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370071p.N417Nc.1251C>TSubstitution - coding silent
RBM15ENSG00000162775ENST00000369784p.A430Tc.1288G>ASubstitution - Missense
IGSF21ENSG00000117154ENST00000251296p.?c.1295-4A>GUnknown
HMCN1ENSG00000143341ENST00000271588p.G5344Ec.16031G>ASubstitution - Missense
FAHD1ENSG00000180185ENST00000427358p.S132Sc.396C>TSubstitution - coding silent


COSMIC

2 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TP53ENSG00000141510ENST00000269305p.H193Rc.?Substitution - Missense19372580
NM_006218.1p.H1047Lc.?Substitution - Missense19372580