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SF-295 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

626 mutations reported
200 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
TTC6ENSG00000139865ENST00000553443p.N1461Dc.4381A>GSubstitution - Missense
ZC3H14ENSG00000100722ENST00000318308p.G24Dc.71G>ASubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.A254fs*32c.757delGDeletion - Frameshift
UBE2OENSG00000175931ENST00000319380p.K531delKc.1593_1595delGAADeletion - In frame
PHF2ENSG00000197724ENST00000359246p.G254Gc.762C>ASubstitution - coding silent
SERPINA7ENSG00000123561ENST00000327674p.I204Vc.610A>GSubstitution - Missense
CSE1LENSG00000124207ENST00000262982p.R137Rc.411C>ASubstitution - coding silent
PTK2BENSG00000120899ENST00000544172p.S473Sc.1419C>TSubstitution - coding silent
AMBNENSG00000178522ENST00000322937p.F209Lc.627T>GSubstitution - Missense
KRTAP4-7ENSG00000240871ENST00000391417p.Q53*c.157C>TSubstitution - Nonsense
ENST00000272666p.V2258Mc.6772G>ASubstitution - Missense
ZNF711ENSG00000147180ENST00000373165p.T221Ac.661A>GSubstitution - Missense
ENST00000237177p.E650*c.1948G>TSubstitution - Nonsense
KMT2CENSG00000055609ENST00000262189p.?c.2872-3C>TUnknown
ADAMTS16ENSG00000145536ENST00000274181p.E894Dc.2682G>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.V421Mc.1261G>ASubstitution - Missense
NCAPG2ENSG00000146918ENST00000409423p.?c.925-2A>TUnknown
COA4ENSG00000181924ENST00000355693p.D50Nc.148G>ASubstitution - Missense
ERAP2ENSG00000164308ENST00000437043p.G178Ac.533G>CSubstitution - Missense
IL1RL1ENSG00000115602ENST00000233954p.R439Qc.1316G>ASubstitution - Missense
PWP1ENSG00000136045ENST00000412830p.?c.1078-8C>GUnknown
LRRIQ1ENSG00000133640ENST00000393217p.K314Nc.942G>CSubstitution - Missense
SFRP5ENSG00000120057ENST00000266066p.A133Ac.399C>TSubstitution - coding silent
KCNQ1ENSG00000053918ENST00000155840p.Y111*c.333C>ASubstitution - Nonsense
IL18ENSG00000150782ENST00000280357p.E105Kc.313G>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.A1576Tc.4726G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.E1285Qc.3853G>CSubstitution - Missense
XM_042978.4p.P965Ac.2893C>GSubstitution - Missense
NOTUMENSG00000185269ENST00000409678p.?c.989-5C>TUnknown
ZNF528ENSG00000167555ENST00000360465p.T236Ac.706A>GSubstitution - Missense
CDCA7LENSG00000164649ENST00000406877p.T196Ic.587C>TSubstitution - Missense
PTPLBENSG00000206527ENST00000383657p.I97Vc.289A>GSubstitution - Missense
KCNMB3ENSG00000171121ENST00000314235p.K153Kc.459G>ASubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
DPP6ENSG00000130226ENST00000406326p.Q127*c.379C>TSubstitution - Nonsense
LNX1ENSG00000072201ENST00000306888p.E500Gc.1499A>GSubstitution - Missense
RTN1ENSG00000139970ENST00000342503p.T67Ac.199A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.K2689Kc.8067A>GSubstitution - coding silent
TDRD5ENSG00000162782ENST00000444136p.N673Nc.2019C>TSubstitution - coding silent
CCDC30ENSG00000186409ENST00000390640p.K305Nc.915G>CSubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
ENST00000315946p.G16Wc.46G>TSubstitution - Missense
PRDM4ENSG00000110851ENST00000228437p.?c.11+5G>AUnknown
LPIN3ENSG00000132793ENST00000373257p.R790Wc.2368C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A2427Tc.7279G>ASubstitution - Missense
C11orf57ENSG00000150776ENST00000280352p.?c.170+10C>TUnknown
NM_002837.2p.T1913Tc.5739C>GSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.S962Nc.2885G>ASubstitution - Missense
NXPE4ENSG00000137634ENST00000375478p.?c.96+5G>CUnknown
MUC16ENSG00000181143ENST00000397910p.G1764Ac.5291G>CSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.E1285Qc.3853G>CSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.Q608*c.1822C>TSubstitution - Nonsense
FANCAENSG00000187741ENST00000389301p.E1451Qc.4351G>CSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.V421Mc.1261G>ASubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.V363Vc.1089C>TSubstitution - coding silent
TMEM184CENSG00000164168ENST00000296582p.V141Ic.421G>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.W441Lc.1322G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
LST1ENSG00000204482ENST00000438075p.C90*c.270C>ASubstitution - Nonsense
MAP3K1ENSG00000095015ENST00000399503p.V787Ic.2359G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.L552Ic.1654C>ASubstitution - Missense
POM121ENSG00000196313ENST00000434423p.G953Rc.2857G>CSubstitution - Missense
MAP3K12ENSG00000139625ENST00000267079p.?c.2139+4A>CUnknown
KCNJ8ENSG00000121361ENST00000240662p.I227Vc.679A>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.I111Kc.332T>ASubstitution - Missense
LRRC41ENSG00000132128ENST00000343304p.R521Cc.1561C>TSubstitution - Missense
SSX2IPENSG00000117155ENST00000342203p.P44Tc.130C>ASubstitution - Missense
ENO3ENSG00000108515ENST00000323997p.E67fs*16c.198delGDeletion - Frameshift
NM_019888.2p.N355Kc.1065C>ASubstitution - Missense
PDS5AENSG00000121892ENST00000303538p.D20Nc.58G>ASubstitution - Missense
STARD6ENSG00000174448ENST00000307844p.F64Fc.192C>TSubstitution - coding silent
COL25A1ENSG00000188517ENST00000399126p.A438Ac.1314C>TSubstitution - coding silent
SLC16A6ENSG00000108932ENST00000327268p.I41Vc.121A>GSubstitution - Missense
RAET1GENSG00000203722ENST00000367360p.C242Cc.726C>TSubstitution - coding silent
SSNA1ENSG00000176101ENST00000322310p.E39Gc.116A>GSubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.R324Hc.971G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.H614Yc.1840C>TSubstitution - Missense
ENST00000248668_v71p.A694Tc.2080G>ASubstitution - Missense
NM_002203.2p.E919*c.2755G>TSubstitution - Nonsense
TSNARE1ENSG00000171045ENST00000307180p.C352Sc.1055G>CSubstitution - Missense
SSX2IPENSG00000117155ENST00000370612p.P44Tc.130C>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
MUTYHENSG00000132781ENST00000372098p.V231Mc.691G>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000375408p.S735Nc.2204G>ASubstitution - Missense
TM7SF3ENSG00000064115ENST00000343028p.?c.690+7C>TUnknown
BARHL2ENSG00000143032ENST00000370445p.R253Pc.758G>CSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.R1923Cc.5767C>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.R1923Cc.5767C>TSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.G115Ec.344G>ASubstitution - Missense
NM_024735.2p.F326Fc.978C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.?c.2886+8A>GUnknown
ICA1LENSG00000163596ENST00000358299p.P375Tc.1123C>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.C130Fc.389G>TSubstitution - Missense
OLFM1ENSG00000130558ENST00000252854p.C57Cc.171C>TSubstitution - coding silent
MAGENSG00000105695ENST00000361922p.A443Tc.1327G>ASubstitution - Missense
LNX1ENSG00000072201ENST00000263925p.E596Gc.1787A>GSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.A646Tc.1936G>ASubstitution - Missense
CYP20A1ENSG00000119004ENST00000356079p.Q322Rc.965A>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.R4447Rc.13341A>TSubstitution - coding silent
KCNA5ENSG00000130037ENST00000252321p.A429Vc.1286C>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.V819Mc.2455G>ASubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.T690Sc.2068A>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2617Gc.7851G>ASubstitution - coding silent
NM_001271.1p.A1514Vc.4541C>TSubstitution - Missense
RGMAENSG00000182175ENST00000557301p.T210Mc.629C>TSubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.C161Cc.483C>TSubstitution - coding silent
UGT2B4ENSG00000156096ENST00000305107p.I62Vc.184A>GSubstitution - Missense
NISCHENSG00000010322ENST00000345716p.Q538Hc.1614G>TSubstitution - Missense
SFI1ENSG00000198089ENST00000400288p.A948Vc.2843C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G2426Gc.7278A>TSubstitution - coding silent
SPATA9ENSG00000145757ENST00000274432p.I147Lc.439A>TSubstitution - Missense
WHSC1ENSG00000109685ENST00000382891p.V805Ac.2414T>CSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.P634Sc.1900C>TSubstitution - Missense
MAGENSG00000105695ENST00000392213p.A443Tc.1327G>ASubstitution - Missense
KCNMB3ENSG00000171121ENST00000349697p.K151Kc.453G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.K800Ec.2398A>GSubstitution - Missense
ACVR1ENSG00000115170ENST00000263640p.I167Ic.501C>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000332007p.Q65*c.193C>TSubstitution - Nonsense
POU2F2ENSG00000028277ENST00000389341p.W248Cc.744G>TSubstitution - Missense
TBC1D13ENSG00000107021ENST00000372648p.N202Sc.605A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264899p.C130Fc.389G>TSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.A2099Vc.6296C>TSubstitution - Missense
PXMP2ENSG00000176894ENST00000317479p.P119Pc.357G>TSubstitution - coding silent
INTS4ENSG00000149262ENST00000534064p.L813Pc.2438T>CSubstitution - Missense
USH1CENSG00000006611ENST00000318024p.V484Mc.1450G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.D2027Nc.6079G>ASubstitution - Missense
SEC31AENSG00000138674ENST00000432794p.?c.2968+7G>AUnknown
SP4ENSG00000105866ENST00000222584p.T661Tc.1983A>GSubstitution - coding silent
MUC13ENSG00000173702ENST00000311075p.?c.511+5G>AUnknown
TBC1D9ENSG00000109436ENST00000442267p.S339Rc.1017C>ASubstitution - Missense
IBTKENSG00000005700ENST00000306270p.?c.654+1G>AUnknown
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense
ENST00000381114p.Q165Hc.495G>CSubstitution - Missense
ENST00000381114p.Q165Hc.495G>CSubstitution - Missense
IRF2BP2ENSG00000168264ENST00000366609p.L199Lc.597G>ASubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.G1219Dc.3656G>ASubstitution - Missense
IL18ENSG00000150782ENST00000280357p.R94Kc.281G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.T2131Tc.6393C>GSubstitution - coding silent
CCDC89ENSG00000179071ENST00000316398p.S216Sc.648C>TSubstitution - coding silent
AHDC1ENSG00000126705ENST00000247087p.L297Mc.889C>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.G830Vc.2489G>TSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.S107Cc.320C>GSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.L41Lc.123G>CSubstitution - coding silent
ZNF667ENSG00000198046ENST00000342634p.V50Ic.148G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.C130Fc.389G>TSubstitution - Missense
GNB4ENSG00000114450ENST00000232564p.T143Tc.429A>GSubstitution - coding silent
KCNMB3ENSG00000171121ENST00000392685p.K149Kc.447G>ASubstitution - coding silent
ENST00000378129p.P727Pc.2181A>CSubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.P140Sc.418C>TSubstitution - Missense
NM_017760.4p.?c.925-2A>TUnknown
IQCDENSG00000166578ENST00000416617p.G374Rc.1120G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.A2465Tc.7393G>ASubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.G304Rc.910G>ASubstitution - Missense
ENST00000376032_v68p.K173Nc.519A>CSubstitution - Missense
TEX30ENSG00000151287ENST00000376021p.K132Nc.396A>CSubstitution - Missense
TEX30ENSG00000151287ENST00000376019p.K132Nc.396A>CSubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.A557Tc.1669G>ASubstitution - Missense
CHTF18ENSG00000127586ENST00000262315p.S742Sc.2226C>TSubstitution - coding silent
CEP95ENSG00000258890ENST00000556440p.R158fs*7c.471_472insGInsertion - Frameshift
CEP95ENSG00000258890ENST00000556440p.R158fs*7c.471_472insGInsertion - Frameshift
KCNS2ENSG00000156486ENST00000287042p.G291Sc.871G>ASubstitution - Missense
DHRS7CENSG00000184544ENST00000330255p.R189Hc.566G>ASubstitution - Missense
ALPPL2ENSG00000163286ENST00000295453p.T67Tc.201G>ASubstitution - coding silent
GIGYF1ENSG00000146830ENST00000275732p.S137Nc.410G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.D178Dc.534C>TSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000341502p.P721Rc.2162C>GSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.R505Hc.1514G>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.P727Lc.2180C>TSubstitution - Missense
NMUR2ENSG00000132911ENST00000255262p.G38Rc.112G>ASubstitution - Missense
MOB3AENSG00000172081ENST00000357066p.K146Nc.438G>CSubstitution - Missense
ENST00000368148p.E23Dc.69G>TSubstitution - Missense
LTA4HENSG00000111144ENST00000228740p.?c.1435-8T>AUnknown
PIGMENSG00000143315ENST00000368090p.A373Dc.1118C>ASubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.K531delKc.1593_1595delGAADeletion - In frame
ZNF18ENSG00000154957ENST00000322748p.A315Dc.944C>ASubstitution - Missense
ENST00000331986p.D5995Ec.17985C>GSubstitution - Missense
IGFBPL1ENSG00000137142ENST00000377694p.V191Vc.573C>ASubstitution - coding silent
CADM2ENSG00000175161ENST00000405615p.D158Yc.472G>TSubstitution - Missense
ABI2ENSG00000138443ENST00000261017p.L316Hc.947T>ASubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.?c.1544-3C>TUnknown
FLNAENSG00000196924ENST00000369850p.G2426Gc.7278A>TSubstitution - coding silent
STXBP5LENSG00000145087ENST00000273666p.T857Tc.2571C>TSubstitution - coding silent
ENST00000328199_v68p.R291Gc.871C>GSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.A151Tc.451G>ASubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.T239Ic.716C>TSubstitution - Missense
CLTCENSG00000141367ENST00000269122p.K1535Nc.4605G>CSubstitution - Missense
GPR146ENSG00000164849ENST00000397095p.R174Rc.522C>TSubstitution - coding silent
CTNNAL1ENSG00000119326ENST00000325551p.L51Fc.151C>TSubstitution - Missense
LST1ENSG00000204482ENST00000376111p.A35Ec.104C>ASubstitution - Missense
ICKENSG00000112144ENST00000350082p.W418Cc.1254G>TSubstitution - Missense
SIGLEC12ENSG00000254521ENST00000291707p.A66fs*50c.193_194insGInsertion - Frameshift
NUP160ENSG00000030066ENST00000378460p.?c.3849-10T>GUnknown
MS4A10ENSG00000172689ENST00000308287p.G217fs*30c.645_646insAInsertion - Frameshift
PCDH15ENSG00000150275ENST00000414778p.I116Kc.347T>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.P1675Sc.5023C>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.D956Nc.2866G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.C130Fc.389G>TSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.P146Pc.438T>ASubstitution - coding silent
NOL10ENSG00000115761ENST00000345985p.L331Lc.993T>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.S2167Lc.6500C>TSubstitution - Missense
FAM104BENSG00000182518ENST00000332132p.D75Ac.224A>CSubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.Q816*c.2446C>TSubstitution - Nonsense
SCN2AENSG00000136531ENST00000375427p.A344Sc.1030G>TSubstitution - Missense
MSTO1ENSG00000125459ENST00000452804p.A243Gc.728C>GSubstitution - Missense
WHSC1ENSG00000109685ENST00000382888p.V153Ac.458T>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.?c.2238+4A>CUnknown
CR2ENSG00000117322ENST00000367057p.N492Sc.1475A>GSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.A585fs*39c.1750_1751delTGDeletion - Frameshift
POC1BENSG00000139323ENST00000313546p.C233Rc.697T>CSubstitution - Missense
VAX1ENSG00000148704ENST00000369206p.L44Hc.131T>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.K2691Kc.8073A>GSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.I111Kc.332T>ASubstitution - Missense
PLP1ENSG00000123560ENST00000303958p.G154Dc.461G>ASubstitution - Missense
RPN2ENSG00000118705ENST00000237530p.N47Tc.140A>CSubstitution - Missense
TMEM86BENSG00000180089ENST00000327042p.G4Vc.11G>TSubstitution - Missense
ICA1LENSG00000163596ENST00000358299p.G35*c.103G>TSubstitution - Nonsense
ZNF611ENSG00000213020ENST00000319783p.S635Sc.1905A>TSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.K288Kc.864G>ASubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.D358Dc.1074C>TSubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.W443Cc.1329G>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.H1082Yc.3244C>TSubstitution - Missense
DGAT2L6ENSG00000184210ENST00000333026p.S52Fc.155C>TSubstitution - Missense
ECE2ENSG00000145194ENST00000402825p.?c.481-6C>TUnknown
COA4ENSG00000181924ENST00000541455p.D59Nc.175G>ASubstitution - Missense
NAPEPLDENSG00000161048ENST00000341533p.P169Lc.506C>TSubstitution - Missense
CES3ENSG00000172828ENST00000303334p.Y439Hc.1315T>CSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.D1442Hc.4324G>CSubstitution - Missense
MAPKAPK2ENSG00000162889ENST00000294981p.R161Ic.482G>TSubstitution - Missense
ENST00000341155p.P824Pc.2472C>TSubstitution - coding silent
CHD2ENSG00000173575ENST00000394196p.A1514Vc.4541C>TSubstitution - Missense
NM_000036.1p.T657Sc.1969A>TSubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.Q510_P511insQQc.1494_1495insCAGCAGInsertion - In frame
PTPRBENSG00000127329ENST00000261266p.T1913Tc.5739C>GSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.G791Rc.2371G>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.E393Ec.1179A>GSubstitution - coding silent
PAK3ENSG00000077264ENST00000360648p.S293Rc.879C>ASubstitution - Missense
ZNF799ENSG00000196466ENST00000430385p.K520Qc.1558A>CSubstitution - Missense
ENST00000405167p.T3268Tc.9804C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000381916p.?c.1778-3C>TUnknown
ZMAT4ENSG00000165061ENST00000297737p.K171Nc.513G>TSubstitution - Missense
NCK2ENSG00000071051ENST00000233154p.A264Vc.791C>TSubstitution - Missense
NCK2ENSG00000071051ENST00000233154p.A264Vc.791C>TSubstitution - Missense
CER1ENSG00000147869ENST00000380911p.P143Qc.428C>ASubstitution - Missense
C5orf20ENSG00000251380ENST00000503143p.A198Sc.592G>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.D1642Dc.4926C>TSubstitution - coding silent
ENST00000248151p.T427Tc.1281G>ASubstitution - coding silent
ARSIENSG00000183876ENST00000328668p.R215Rc.645C>TSubstitution - coding silent
ALDH2ENSG00000111275ENST00000261733p.L196Lc.588G>TSubstitution - coding silent
ENST00000368148p.I24Vc.70A>GSubstitution - Missense
VWFENSG00000110799ENST00000261405p.R2535Qc.7604G>ASubstitution - Missense
TTC6ENSG00000139865ENST00000382320p.N175Dc.523A>GSubstitution - Missense
WDR16ENSG00000166596ENST00000299764p.V218Vc.654C>TSubstitution - coding silent
ILF3ENSG00000129351ENST00000420083p.I431Mc.1293C>GSubstitution - Missense
TMPRSS3ENSG00000160183ENST00000398397p.S215Sc.645A>GSubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000380399p.S299Sc.897A>GSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.S107Cc.320C>GSubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.Q240Hc.720G>TSubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.Q240Hc.720G>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.P609Sc.1825C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.A2434Tc.7300G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.R125Qc.374G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.S2167Lc.6500C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.L550Mc.1648C>ASubstitution - Missense
CYP11B2ENSG00000179142ENST00000323110p.L451Lc.1353C>TSubstitution - coding silent
ALDH2ENSG00000111275ENST00000261733p.L196Lc.588G>TSubstitution - coding silent
CCDC30ENSG00000186409ENST00000340612p.K516Nc.1548G>CSubstitution - Missense
EXD2ENSG00000081177ENST00000409014p.R394Gc.1180C>GSubstitution - Missense
ZNF287ENSG00000141040ENST00000395824p.P363Pc.1089T>CSubstitution - coding silent
PTK2BENSG00000120899ENST00000397497p.S219Sc.657C>TSubstitution - coding silent
ILF3ENSG00000129351ENST00000407004p.I431Mc.1293C>GSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.?c.483-6C>AUnknown
BCORENSG00000183337ENST00000397354p.Q918Lc.2753A>TSubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.L432Vc.1294C>GSubstitution - Missense
PNLDC1ENSG00000146453ENST00000275275p.V62Vc.186G>TSubstitution - coding silent
SRRTENSG00000087087ENST00000347433p.?c.2429-10T>GUnknown
PLIN4ENSG00000167676ENST00000301286p.G434Gc.1302C>TSubstitution - coding silent
NTN3ENSG00000162068ENST00000293973p.R303Wc.907C>TSubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.A266Sc.796G>TSubstitution - Missense
OTTHUMT00000058153.1p.P484Sc.1450C>TSubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.V1890Lc.5668G>TSubstitution - Missense
DDOSTENSG00000244038ENST00000375048p.F442Cc.1325T>GSubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.G382Gc.1146C>ASubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.L1077Pc.3230T>CSubstitution - Missense
GJA4ENSG00000187513ENST00000342280p.I208Tc.623T>CSubstitution - Missense
C7ENSG00000112936ENST00000313164p.V346Ic.1036G>ASubstitution - Missense
CCBL2ENSG00000137944ENST00000370491p.A56Ac.168A>GSubstitution - coding silent
BRDTENSG00000137948ENST00000362005p.V263Ic.787G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.G1655Sc.4963G>ASubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.L678Lc.2034G>TSubstitution - coding silent
ENST00000242365_v65p.L628Lc.1884G>TSubstitution - coding silent
CCDC11ENSG00000172361ENST00000398545p.R442Lc.1325G>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.D1811Nc.5431G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.?c.2478+8A>GUnknown
ECEL1ENSG00000171551ENST00000304546p.W358Lc.1073G>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.S339Rc.1017C>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.D1636Dc.4908C>TSubstitution - coding silent
RASGRP4ENSG00000171777ENST00000454404p.F69Fc.207C>TSubstitution - coding silent
PCDHGB4ENSG00000253953ENST00000519479p.Q244Ec.730C>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.L550Mc.1648C>ASubstitution - Missense
IKENSG00000113141ENST00000417647p.E424*c.1270G>TSubstitution - Nonsense
ZNF780BENSG00000128000ENST00000434248p.Q816*c.2446C>TSubstitution - Nonsense
ENST00000341597p.A263Tc.787G>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.D184Nc.550G>ASubstitution - Missense
SNRNP35ENSG00000184209ENST00000412157p.R86Wc.256C>TSubstitution - Missense
MALRD1ENSG00000204740ENST00000455457p.G47Dc.140G>ASubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.R1830Hc.5489G>ASubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.S1034Lc.3101C>TSubstitution - Missense
LCE2DENSG00000187223ENST00000368784p.P33Sc.97C>TSubstitution - Missense
CCBL2ENSG00000137944ENST00000260508p.A90Ac.270A>GSubstitution - coding silent
NDUFA3ENSG00000170906ENST00000419113p.L84Lc.250C>TSubstitution - coding silent
GPT2ENSG00000166123ENST00000340124p.G173Sc.517G>ASubstitution - Missense
LRRN1ENSG00000175928ENST00000319331p.G407Gc.1221G>ASubstitution - coding silent
PTPN18ENSG00000072135ENST00000175756p.E278Qc.832G>CSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.R258Rc.772C>ASubstitution - coding silent
NM_021998.2p.T201Ac.601A>GSubstitution - Missense
TRAF3IP2ENSG00000056972ENST00000368761p.E8Kc.22G>ASubstitution - Missense
BMP5ENSG00000112175ENST00000370830p.V315Lc.943G>TSubstitution - Missense
MCM9ENSG00000111877ENST00000316068p.T239Ic.716C>TSubstitution - Missense
IRAK1BP1ENSG00000146243ENST00000369940p.D150Yc.448G>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.V1530Ic.4588G>ASubstitution - Missense
RAB11FIP4ENSG00000131242ENST00000325874p.D339Dc.1017C>TSubstitution - coding silent
TAF15ENSG00000172660ENST00000311979p.R408Cc.1222C>TSubstitution - Missense
THADAENSG00000115970ENST00000405975p.F1852Sc.5555T>CSubstitution - Missense
THADAENSG00000115970ENST00000405975p.N1381Hc.4141A>CSubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.Q956Hc.2868G>TSubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.?c.1034+3A>CUnknown
USP32ENSG00000170832ENST00000300896p.N500Sc.1499A>GSubstitution - Missense
SIENSG00000090402ENST00000264382p.R648Kc.1943G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.R2085Mc.6254G>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.R2124Mc.6371G>TSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.P780Lc.2339C>TSubstitution - Missense
KCNMB3ENSG00000171121ENST00000497599p.K151Kc.453G>ASubstitution - coding silent
DIAPH1ENSG00000131504ENST00000398557p.D329Vc.986A>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.L550Mc.1648C>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000392023p.D111Dc.333C>TSubstitution - coding silent
SPTBN4ENSG00000160460ENST00000352632p.D1435Dc.4305C>TSubstitution - coding silent
PDZD4ENSG00000067840ENST00000164640p.T91Pc.271A>CSubstitution - Missense
TMCO6ENSG00000113119ENST00000394671p.L215Fc.645G>TSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.P727Pc.2181A>CSubstitution - coding silent
ENST00000396121p.C44*c.132C>ASubstitution - Nonsense
KELENSG00000197993ENST00000355265p.N601_H602delNHc.1800_1805delCAACCADeletion - In frame
ENST00000292077p.W264Cc.792G>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G506Gc.1518C>TSubstitution - coding silent
IRGCENSG00000124449ENST00000244314p.G429Rc.1285G>ASubstitution - Missense
ENST00000373263p.P935Sc.2803C>TSubstitution - Missense
NBASENSG00000151779ENST00000281513p.L418Sc.1253T>CSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.E700Kc.2098G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.2872-3C>TUnknown
KMT2CENSG00000055609ENST00000355193p.?c.2976+6C>TUnknown
KMT2CENSG00000055609ENST00000262189p.?c.2976+6C>TUnknown
DPP6ENSG00000130226ENST00000377770p.Q127*c.379C>TSubstitution - Nonsense
DPP6ENSG00000130226ENST00000404039p.Q63*c.187C>TSubstitution - Nonsense
FAPENSG00000078098ENST00000188790p.Q65Kc.193C>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.A344Sc.1030G>TSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.D184Nc.550G>ASubstitution - Missense
PHF20L1ENSG00000129292ENST00000395386p.?c.2388-8G>TUnknown
PHF20L1ENSG00000129292ENST00000220847p.?c.2310-8G>TUnknown
DFNB31ENSG00000095397ENST00000374057p.F330fs*>16c.989delTDeletion - Frameshift
TTC16ENSG00000167094ENST00000373289p.S113Sc.339G>ASubstitution - coding silent
ECE2ENSG00000145194ENST00000357474p.?c.265-6C>TUnknown
ECE2ENSG00000145194ENST00000359140p.?c.40-6C>TUnknown
MASP1ENSG00000127241ENST00000296280p.G162Gc.486C>ASubstitution - coding silent
MASP1ENSG00000127241ENST00000337774p.G162Gc.486C>ASubstitution - coding silent
MASP1ENSG00000127241ENST00000169293p.G162Gc.486C>ASubstitution - coding silent
ITGA2ENSG00000164171ENST00000296585p.E919*c.2755G>TSubstitution - Nonsense
NM_139056.1p.E894Dc.2682G>TSubstitution - Missense
XM_042066p.V624Ic.1870G>ASubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.L1111Lc.3333G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
ENST00000280357_v70p.E105Kc.313G>ASubstitution - Missense
ENST00000280357_v70p.R94Kc.281G>ASubstitution - Missense
NM_032681.1p.G214Rc.640G>ASubstitution - Missense
ENST00000327733p.G373Rc.1117G>ASubstitution - Missense
CLP1ENSG00000172409ENST00000533682p.I416Vc.1246A>GSubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.D919Yc.2755G>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000329601p.V819Mc.2455G>ASubstitution - Missense
ENST00000263187_v70p.?c.2355+5T>CUnknown
CTAGE5ENSG00000150527ENST00000341749p.P709Rc.2126C>GSubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.R776Rc.2328C>TSubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.P146Pc.438T>ASubstitution - coding silent
LRRC3BENSG00000179796ENST00000396641p.R10Gc.28C>GSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.A438Ac.1314C>TSubstitution - coding silent
SGMS2ENSG00000164023ENST00000394684p.R286*c.856C>TSubstitution - Nonsense
SEC31AENSG00000138674ENST00000395310p.?c.2968+7G>AUnknown
FAM47CENSG00000198173ENST00000358047p.K288Kc.864G>ASubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.G407Rc.1219G>ASubstitution - Missense
BCORENSG00000183337ENST00000378444p.Q918Lc.2753A>TSubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.R230Cc.688C>TSubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.G118Gc.354C>ASubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.D358Dc.1074C>TSubstitution - coding silent
ZNF772ENSG00000197128ENST00000343280p.A61Sc.181G>TSubstitution - Missense
ZNF587BENSG00000269343ENST00000442832p.C300Cc.900T>CSubstitution - coding silent
MAP4K4ENSG00000071054ENST00000350878p.G833Sc.2497G>ASubstitution - Missense
NOL10ENSG00000115761ENST00000381685p.L381Lc.1143T>GSubstitution - coding silent
NOL10ENSG00000115761ENST00000381685p.R293Qc.878G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.E985Kc.2953G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000397459p.E657Kc.1969G>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.P230Qc.689C>ASubstitution - Missense
ATOH1ENSG00000172238ENST00000306011p.A251Ac.753G>ASubstitution - coding silent
FERENSG00000151422ENST00000281092p.V713Mc.2137G>ASubstitution - Missense
CLRN1ENSG00000163646ENST00000327047p.Q52Kc.154C>ASubstitution - Missense
P2RY1ENSG00000169860ENST00000305097p.S190Lc.569C>TSubstitution - Missense
AADACENSG00000114771ENST00000232892p.Y311Sc.932A>CSubstitution - Missense
ENST00000314241p.A129Tc.385G>ASubstitution - Missense
IL21ENSG00000138684ENST00000264497p.?c.205-3C>GUnknown
BOD1L1ENSG00000038219ENST00000040738p.T2515Tc.7545G>ASubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.L88Vc.262T>GSubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.P1008Pc.3024A>GSubstitution - coding silent
LATS1ENSG00000131023ENST00000543571p.P1008Pc.3024A>GSubstitution - coding silent
CCDC146ENSG00000135205ENST00000285871p.E195Qc.583G>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2167Lc.6500C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2098Lc.6293C>TSubstitution - Missense
GPR64ENSG00000173698ENST00000357991p.S63Cc.188C>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.H1082Yc.3244C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.V2014Mc.6040G>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.?c.1060-2A>CUnknown
NEU2ENSG00000115488ENST00000233840p.H48Nc.142C>ASubstitution - Missense
KALRNENSG00000160145ENST00000291478p.S669Sc.2007C>TSubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.S2366Sc.7098C>TSubstitution - coding silent
ZNF662ENSG00000182983ENST00000440367p.R265Gc.793C>GSubstitution - Missense
SACM1LENSG00000211456ENST00000389061p.L455Sc.1364T>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.D1627Dc.4881C>TSubstitution - coding silent
RPL7L1ENSG00000146223ENST00000493763p.?c.422+10G>AUnknown
FBXO24ENSG00000106336ENST00000427939p.R296Rc.886C>ASubstitution - coding silent
RELNENSG00000189056ENST00000343529p.H132Hc.396C>TSubstitution - coding silent
GRID2IPENSG00000215045ENST00000457091p.?c.584+7C>TUnknown
GRID2IPENSG00000215045ENST00000457091p.?c.584+7C>TUnknown
POM121ENSG00000196313ENST00000257622p.G688Rc.2062G>CSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.G688Rc.2062G>CSubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.?c.841-6G>AUnknown
FAM104BENSG00000182518ENST00000425133p.D75Ac.224A>CSubstitution - Missense
FAM104BENSG00000182518ENST00000332132p.V90Lc.268G>CSubstitution - Missense
ZNF253ENSG00000256771ENST00000355650p.G168Ec.503G>ASubstitution - Missense
ZNF736ENSG00000234444ENST00000355095p.G168Ec.503G>ASubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.?c.6118-6C>TUnknown
PVRL3ENSG00000177707ENST00000485303p.D456Gc.1367A>GSubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.S794Tc.2381G>CSubstitution - Missense
BOCENSG00000144857ENST00000355385p.D1017Nc.3049G>ASubstitution - Missense
PRR23CENSG00000233701ENST00000413199p.G129Vc.386G>TSubstitution - Missense
DBR1ENSG00000138231ENST00000260803p.?c.322+1G>AUnknown
SMARCA5ENSG00000153147ENST00000283131p.H660Hc.1980T>CSubstitution - coding silent
ACSL6ENSG00000164398ENST00000296869p.P634Sc.1900C>TSubstitution - Missense
PDE7AENSG00000205268ENST00000401827p.D68Yc.202G>TSubstitution - Missense
PDE7AENSG00000205268ENST00000379419p.D42Yc.124G>TSubstitution - Missense
AZU1ENSG00000172232ENST00000233997p.T147Tc.441C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.D10362Ec.31086C>GSubstitution - Missense
PTPDC1ENSG00000158079ENST00000288976p.L299Ic.895C>ASubstitution - Missense
PTPDC1ENSG00000158079ENST00000375360p.L247Ic.739C>ASubstitution - Missense
FRMPD3ENSG00000147234ENST00000276185p.P916Ac.2746C>GSubstitution - Missense
FLIIENSG00000177731ENST00000327031p.N1062Nc.3186C>TSubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.Y376Dc.1126T>GSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
FERMT1ENSG00000101311ENST00000217289p.T568Tc.1704C>ASubstitution - coding silent
IQUBENSG00000164675ENST00000324698p.D695Nc.2083G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.R125Qc.374G>ASubstitution - Missense
ENST00000399933_v61p.G1846Rc.5536G>CSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.G1021Rc.3061G>CSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.S846Pc.2536T>CSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.G858Vc.2573G>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.G858Vc.2573G>TSubstitution - Missense
GPR27ENSG00000170837ENST00000304411p.A329Vc.986C>TSubstitution - Missense
PTK2BENSG00000120899ENST00000397501p.S473Sc.1419C>TSubstitution - coding silent
LAPTM4BENSG00000104341ENST00000445593p.T292Mc.875C>TSubstitution - Missense
RPL23AENSG00000198242ENST00000422514p.T95Ic.284C>TSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.A1874Ac.5622G>TSubstitution - coding silent
ENST00000411702p.A3850Ac.11550G>TSubstitution - coding silent
ENST00000330917p.?c.791-5C>TUnknown
B4GALT6ENSG00000118276ENST00000306851p.I173Nc.518T>ASubstitution - Missense
CELF4ENSG00000101489ENST00000361795p.V227Vc.681C>ASubstitution - coding silent
ILF3ENSG00000129351ENST00000318511p.I431Mc.1293C>GSubstitution - Missense
ENST00000357979p.K307Qc.919A>CSubstitution - Missense
HMGN1ENSG00000205581ENST00000361263p.I112Tc.335T>CSubstitution - Missense
TMPRSS3ENSG00000160183ENST00000291532p.S215Sc.645A>GSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.D1705Nc.5113G>ASubstitution - Missense
ENST00000420871_v68p.D956Nc.2866G>ASubstitution - Missense
CIAO1ENSG00000144021ENST00000488633p.R222Lc.665G>TSubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.Q240Hc.720G>TSubstitution - Missense
CADM2ENSG00000175161ENST00000383699p.D165Yc.493G>TSubstitution - Missense
CBLN1ENSG00000102924ENST00000219197p.G179fs*>15c.532delGDeletion - Frameshift
SLC12A3ENSG00000070915ENST00000438926p.A797Ac.2391G>ASubstitution - coding silent
NR1D1ENSG00000126368ENST00000246672p.?c.1248+6G>AUnknown
ENST00000377734p.Q53*c.157C>TSubstitution - Nonsense
DOPEY2ENSG00000142197ENST00000399151p.S1755Sc.5265G>TSubstitution - coding silent
PDS5AENSG00000121892ENST00000503396p.D20Nc.58G>ASubstitution - Missense
GABRB1ENSG00000163288ENST00000295454p.D389Dc.1167C>TSubstitution - coding silent
GNL3ENSG00000163938ENST00000418458p.R70Rc.210G>ASubstitution - coding silent
HIST1H3BENSG00000124693ENST00000244661p.T12Sc.34A>TSubstitution - Missense
SVOPLENSG00000157703ENST00000419765p.G267Ec.800G>ASubstitution - Missense
CDK14ENSG00000058091ENST00000265741p.?c.772+2T>CUnknown
CDK14ENSG00000058091ENST00000380050p.?c.826+2T>CUnknown
SLC14A1ENSG00000141469ENST00000436407p.L278Lc.832T>CSubstitution - coding silent
SLC14A1ENSG00000141469ENST00000321925p.L222Lc.664T>CSubstitution - coding silent
WDR16ENSG00000166596ENST00000352665p.V208Vc.624C>TSubstitution - coding silent
SYNDIG1ENSG00000101463ENST00000376862p.R119Qc.356G>ASubstitution - Missense
ABI2ENSG00000138443ENST00000295851p.L383Hc.1148T>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.S107Cc.320C>GSubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.S107Cc.320C>GSubstitution - Missense
ABI3BPENSG00000154175ENST00000284322p.?c.483-6C>AUnknown
FBXO31ENSG00000103264ENST00000311635p.F498Fc.1494C>TSubstitution - coding silent
ARFGAP1ENSG00000101199ENST00000370275p.E315Ec.945A>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3268Tc.9804C>TSubstitution - coding silent
ENST00000405167p.T2708Tc.8124C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2708Tc.8124C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.?c.1544-3C>TUnknown
MUC4ENSG00000145113ENST00000463781p.R201Qc.602G>ASubstitution - Missense
ENST00000405167p.R201Qc.602G>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.?c.3387+1G>CUnknown
MUC19ENSG00000205592ENST00000425730p.D785Dc.2355C>TSubstitution - coding silent
USH1CENSG00000006611ENST00000005226p.V784Mc.2350G>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.S962Nc.2885G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.N673Nc.2019C>TSubstitution - coding silent
ENST00000381363p.?c.305-1G>CUnknown
AMY2BENSG00000240038ENST00000361355p.W73Cc.219G>CSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.G801Vc.2402G>TSubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.N39Nc.117C>TSubstitution - coding silent
HIPK3ENSG00000110422ENST00000303296p.R339Mc.1016G>TSubstitution - Missense
PEX14ENSG00000142655ENST00000356607p.Q180Kc.538C>ASubstitution - Missense
CHIAENSG00000134216ENST00000369740p.D73Dc.219T>CSubstitution - coding silent
RBM15ENSG00000162775ENST00000369784p.A881Ac.2643C>GSubstitution - coding silent
ATAD3AENSG00000197785ENST00000378755p.N314Sc.941A>GSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.K2982Ec.8944A>GSubstitution - Missense
CFHENSG00000000971ENST00000367429p.K183Kc.549G>ASubstitution - coding silent
UCHL5ENSG00000116750ENST00000367448p.L323Pc.968T>CSubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.R519Gc.1555C>GSubstitution - Missense
NM_014381.1p.A557Tc.1669G>ASubstitution - Missense
RGMAENSG00000182175ENST00000329082p.T202Mc.605C>TSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.?c.2924+9A>GUnknown
ENST00000417177p.I116Kc.347T>ASubstitution - Missense
HERC4ENSG00000148634ENST00000395198p.L726Ic.2176C>ASubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.E896*c.2686G>TSubstitution - Nonsense
CCDC88BENSG00000168071ENST00000359902p.E48*c.142G>TSubstitution - Nonsense
DNHD1ENSG00000179532ENST00000254579p.Q2151Qc.6453G>ASubstitution - coding silent
DNHD1ENSG00000179532ENST00000254579p.Q809Qc.2427G>ASubstitution - coding silent
IQCDENSG00000166578ENST00000299732p.G272Rc.814G>ASubstitution - Missense
RAB35ENSG00000111737ENST00000432953p.T20Tc.60G>ASubstitution - coding silent
TTF2ENSG00000116830ENST00000369466p.T629Mc.1886C>TSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.G173Dc.518G>ASubstitution - Missense
GATMENSG00000171766ENST00000396659p.A123Sc.367G>TSubstitution - Missense
ARHGAP5ENSG00000100852ENST00000345122p.V1374Gc.4121T>GSubstitution - Missense
CTAGE5ENSG00000150527ENST00000280083p.P721Rc.2162C>GSubstitution - Missense
SEC23AENSG00000100934ENST00000307712p.?c.604-10C>GUnknown
SEC23AENSG00000100934ENST00000536508p.?c.226-10C>GUnknown
S100A14ENSG00000189334ENST00000476873p.N8Nc.24C>TSubstitution - coding silent
WDR72ENSG00000166415ENST00000396328p.P511Pc.1533A>CSubstitution - coding silent
DLG2ENSG00000150672ENST00000418306p.H31Pc.92A>CSubstitution - Missense
NM_006312.2p.Q510_P511insQQc.1494_1495insCAGCAGInsertion - In frame
ENST00000331998p.A181fs*111c.539_540insGInsertion - Frameshift
PRAMEF17ENSG00000204479ENST00000376098p.E466Qc.1396G>CSubstitution - Missense
OR1C1ENSG00000221888ENST00000408896p.I256Ic.768C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.P1675Sc.5023C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.P1631Sc.4891C>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000531382p.T449Nc.1346C>ASubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.T440Nc.1319C>ASubstitution - Missense
MSH4ENSG00000057468ENST00000263187p.?c.2355+5T>CUnknown
SEL1LENSG00000071537ENST00000336735p.V307Ic.919G>ASubstitution - Missense
AGRNENSG00000188157ENST00000379370p.L1468Vc.4402C>GSubstitution - Missense
SLC25A47ENSG00000140107ENST00000361529p.?c.73-10T>CUnknown
RYR3ENSG00000198838ENST00000389232p.P977Sc.2929C>TSubstitution - Missense
CTRB1ENSG00000168925ENST00000361017p.A247Tc.739G>ASubstitution - Missense
GSE1ENSG00000131149ENST00000253458p.P715Pc.2145A>CSubstitution - coding silent
CHTF18ENSG00000127586ENST00000317063p.S951Sc.2853C>TSubstitution - coding silent
COL1A1ENSG00000108821ENST00000225964p.P1086Pc.3258C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.G1764Ac.5291G>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.A395Ac.1185C>TSubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.K440Kc.1320G>ASubstitution - coding silent
ANKARENSG00000151687ENST00000520309p.G144Rc.430G>ASubstitution - Missense
ANKARENSG00000151687ENST00000313581p.G73Rc.217G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.L552Ic.1654C>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.L552Ic.1654C>ASubstitution - Missense
PAK3ENSG00000077264ENST00000446737p.S257Rc.771C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.M745Ic.2235G>CSubstitution - Missense
MRPL12ENSG00000262814ENST00000333676p.T194Tc.582C>GSubstitution - coding silent
ADAMTS5ENSG00000154736ENST00000284987p.R700Lc.2099G>TSubstitution - Missense
ZNF17ENSG00000186272ENST00000307658p.R398Cc.1192C>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.D1844Yc.5530G>TSubstitution - Missense
PNLIPRP1ENSG00000187021ENST00000358834p.N138Kc.414C>ASubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.K389Nc.1167G>CSubstitution - Missense
FBXO43ENSG00000156509ENST00000428847p.G50Wc.148G>TSubstitution - Missense
XM_209918.4p.G16Wc.46G>TSubstitution - Missense
NAPEPLDENSG00000161048ENST00000455523p.P242Lc.725C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A2427Tc.7279G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.A2434Tc.7300G>ASubstitution - Missense
ERAP2ENSG00000164308ENST00000510309p.G178Ac.533G>CSubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.V1890Lc.5668G>TSubstitution - Missense
ACTRT3ENSG00000184378ENST00000330368p.A328Pc.982G>CSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.D985Yc.2953G>TSubstitution - Missense
GABREENSG00000102287ENST00000370328p.G91Ec.272G>ASubstitution - Missense
THOC2ENSG00000125676ENST00000245838p.P563Sc.1687C>TSubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.V494Lc.1480G>CSubstitution - Missense
USP25ENSG00000155313ENST00000285679p.E297Dc.891G>CSubstitution - Missense
USP25ENSG00000155313ENST00000400183p.E297Dc.891G>CSubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.L67Mc.199C>ASubstitution - Missense
OR1F1ENSG00000168124ENST00000304646p.V225Fc.673G>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.K1158Nc.3474A>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.K1158Nc.3474A>CSubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.E755Vc.2264A>TSubstitution - Missense
RTN1ENSG00000139970ENST00000267484p.T635Ac.1903A>GSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.E355Qc.1063G>CSubstitution - Missense
SNRNP35ENSG00000184209ENST00000526639p.R81Wc.241C>TSubstitution - Missense
CER1ENSG00000147869ENST00000380911p.V179Lc.535G>TSubstitution - Missense
MAPKAPK2ENSG00000162889ENST00000367103p.R161Ic.482G>TSubstitution - Missense
FAM71AENSG00000162771ENST00000294829p.V395Ic.1183G>ASubstitution - Missense
OR6C74ENSG00000197706ENST00000343870p.A280Sc.838G>TSubstitution - Missense
INTS6ENSG00000102786ENST00000311234p.N707Dc.2119A>GSubstitution - Missense
TMEM119ENSG00000183160ENST00000392806p.S212Sc.636C>TSubstitution - coding silent
MMABENSG00000139428ENST00000545712p.V103Vc.309C>ASubstitution - coding silent
ZNF248ENSG00000198105ENST00000395867p.V88Mc.262G>ASubstitution - Missense
LIPKENSG00000204021ENST00000404190p.F195Fc.585T>CSubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.F195Fc.585T>CSubstitution - coding silent
SFRP5ENSG00000120057ENST00000266066p.A133Ac.399C>TSubstitution - coding silent
DNTTENSG00000107447ENST00000371174p.Q422Hc.1266G>TSubstitution - Missense
ENST00000256007p.K314Nc.942G>CSubstitution - Missense
ENSG00000143674ENST00000366624p.P751Pc.2253G>ASubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.L913Ic.2737C>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.L913Ic.2737C>ASubstitution - Missense
HAPLN3ENSG00000140511ENST00000359595p.R243*c.727C>TSubstitution - Nonsense
DHRS4ENSG00000157326ENST00000313250p.T25Pc.73A>CSubstitution - Missense
FGF3ENSG00000186895ENST00000334134p.Y111Yc.333C>TSubstitution - coding silent
LTA4HENSG00000111144ENST00000413268p.?c.1363-8T>AUnknown
TEX30ENSG00000151287ENST00000376032p.K173Nc.519A>CSubstitution - Missense
VAX1ENSG00000148704ENST00000277905p.L44Hc.131T>ASubstitution - Missense


COSMIC

75 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
KELENSG00000197993ENST00000355265p.N601_H602delNHc.1799_1804delACAACCDeletion - In frame23856246
SNRNP35ENSG00000184209ENST00000526639p.R81Wc.241C>TSubstitution - Missense23856246
GON4LENSG00000116580ENST00000437809p.H1139delHc.3411_3413delCCADeletion - In frame23856246
UBE2OENSG00000175931ENST00000319380p.K531delKc.1587_1589delGAADeletion - In frame23856246
NF1ENSG00000196712ENST00000358273p.L2711fs*19c.8132_8133insTInsertion - Frameshift23856246
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense23856246
ITPR2ENSG00000123104ENST00000381340p.R505Hc.1514G>ASubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000337114p.N236fs*26c.705_706delAADeletion - Frameshift23856246
MS4A10ENSG00000172689ENST00000308287p.G217fs*30c.648_649insAInsertion - Frameshift23856246
HTTENSG00000197386ENST00000355072p.P727Lc.2180C>TSubstitution - Missense23856246
MOB3AENSG00000172081ENST00000357066p.K146Nc.438G>CSubstitution - Missense23856246
PTENENSG00000171862ENST00000371953p.R233*c.?Substitution - Nonsense20530683
OSBPL1AENSG00000141447ENST00000319481p.L67Mc.199C>ASubstitution - Missense23856246
GON4LENSG00000116580ENST00000437809p.H1139delHc.3411_3413delCCADeletion - In frame23856246
RETNLBENSG00000163515ENST00000295755p.L14fs*1c.29_30insCCTAATCCInsertion - Frameshift23856246
NMUR2ENSG00000132911ENST00000255262p.G38Rc.112G>ASubstitution - Missense23856246
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense23856246
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense23856246
ENST00000381114p.Q165Hc.495G>CSubstitution - Missense23856246
ENST00000381114p.Q165Hc.495G>CSubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000525539p.N236fs*26c.705_706delAADeletion - Frameshift23856246
ESPL1ENSG00000135476ENST00000257934p.A2099Vc.6296C>TSubstitution - Missense23856246
NTN3ENSG00000162068ENST00000293973p.R303Wc.907C>TSubstitution - Missense23856246
PCDHB12ENSG00000120328ENST00000239450p.A266Sc.796G>TSubstitution - Missense23856246
NIPBLENSG00000164190ENST00000448238p.V1890Lc.5668G>TSubstitution - Missense23856246
OTTHUMT00000058153.1p.P484Sc.1450C>TSubstitution - Missense23856246
AMOTENSG00000126016ENST00000371959p.P1028_A1029insPc.3080_3081insTCCInsertion - In frame23856246
CYP20A1ENSG00000119004ENST00000356079p.Q322Rc.965A>GSubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000265368p.A2427Tc.7279G>ASubstitution - Missense23856246
OTOFENSG00000115155ENST00000272371p.Y1603*c.4809C>ASubstitution - Nonsense23856246
ACSS3ENSG00000111058ENST00000548058p.A585fs*39c.1752_1753delTGDeletion - Frameshift23856246
PNLIPRP1ENSG00000187021ENST00000358834p.N138Kc.414C>ASubstitution - Missense23856246
THOC2ENSG00000125676ENST00000245838p.P563Sc.1687C>TSubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000423061p.A2434Tc.7300G>ASubstitution - Missense23856246
AMOTENSG00000126016ENST00000304758p.P619_A620insPc.1853_1854insTCCInsertion - In frame23856246
DNAH3ENSG00000158486ENST00000261383p.K1158Nc.3474A>CSubstitution - Missense23856246
FAM208BENSG00000108021ENST00000328090p.K389Nc.1167G>CSubstitution - Missense23856246
KCNT2ENSG00000162687ENST00000294725p.D985Yc.2953G>TSubstitution - Missense23856246
UBE2OENSG00000175931ENST00000319380p.K531delKc.1587_1589delGAADeletion - In frame23856246
NF1ENSG00000196712ENST00000358273p.L2711fs*19c.8132_8133insTInsertion - Frameshift23856246
USP25ENSG00000155313ENST00000285679p.E297Dc.891G>CSubstitution - Missense23856246
XM_209918.4p.G16Wc.46G>TSubstitution - Missense23856246
OTOFENSG00000115155ENST00000402415p.Y913*c.2739C>ASubstitution - Nonsense23856246
ENO3ENSG00000108515ENST00000323997p.E67fs*16c.199delGDeletion - Frameshift23856246
CBLN1ENSG00000102924ENST00000219197p.G179fs*>15c.531delGDeletion - Frameshift23856246
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense23856246
GABREENSG00000102287ENST00000370328p.G91Ec.272G>ASubstitution - Missense23856246
DNAH3ENSG00000158486ENST00000261383p.K1158Nc.3474A>CSubstitution - Missense23856246
HAVCR1ENSG00000113249ENST00000339252p.T160_V161insTc.474_475insACAInsertion - In frame23856246
NIPBLENSG00000164190ENST00000282516p.V1890Lc.5668G>TSubstitution - Missense23856246
RTN1ENSG00000139970ENST00000267484p.T635Ac.1903A>GSubstitution - Missense23856246
ENST00000545858p.R155Qc.464G>ASubstitution - Missense23856246
LPIN3ENSG00000132793ENST00000373257p.R790Wc.2368C>TSubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000265368p.A2427Tc.7279G>ASubstitution - Missense23856246
ENST00000315946p.G16Wc.46G>TSubstitution - Missense23856246
COL6A3ENSG00000163359ENST00000295550p.D1442Hc.4324G>CSubstitution - Missense23856246
NAPEPLDENSG00000161048ENST00000341533p.P169Lc.506C>TSubstitution - Missense23856246
CES3ENSG00000172828ENST00000303334p.Y439Hc.1315T>CSubstitution - Missense23856246
FBXO43ENSG00000156509ENST00000428847p.G50Wc.148G>TSubstitution - Missense23856246
CNDP1ENSG00000150656ENST00000358821p.L20_E21insLc.60_61insCTGInsertion - In frame23856246
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense23856246
ZNF17ENSG00000186272ENST00000307658p.R398Cc.1192C>TSubstitution - Missense23856246
FOXRED2ENSG00000100350ENST00000397223p.V494Lc.1480G>CSubstitution - Missense23856246
ACTRT3ENSG00000184378ENST00000330368p.A328Pc.982G>CSubstitution - Missense23856246
OR1F1ENSG00000168124ENST00000304646p.V225Fc.673G>TSubstitution - Missense23856246
OTOFENSG00000115155ENST00000339598p.Y836*c.2508C>ASubstitution - Nonsense23856246
ERAP2ENSG00000164308ENST00000510309p.G178Ac.533G>CSubstitution - Missense23856246
GON4LENSG00000116580ENST00000361040p.H1139delHc.3411_3413delCCADeletion - In frame23856246
USP25ENSG00000155313ENST00000400183p.E297Dc.891G>CSubstitution - Missense23856246
FAN1ENSG00000198690ENST00000362065p.E755Vc.2264A>TSubstitution - Missense23856246
NAPEPLDENSG00000161048ENST00000455523p.P242Lc.725C>TSubstitution - Missense23856246
ERAP2ENSG00000164308ENST00000437043p.G178Ac.533G>CSubstitution - Missense23856246
OR8U1ENSG00000172199ENST00000302270p.L131Mc.391T>ASubstitution - Missense23856246
COA4ENSG00000181924ENST00000355693p.D50Nc.148G>ASubstitution - Missense23856246
PLEKHG3ENSG00000126822ENST00000247226p.E355Qc.1063G>CSubstitution - Missense23856246