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NCI-H522 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

507 mutations reported
151 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
ENST00000447890p.K339Kc.1017G>ASubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.E293Gc.878A>GSubstitution - Missense
BAIAP2L2ENSG00000128298ENST00000381669p.T409Sc.1225A>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.?c.9618+6C>GUnknown
EFHC1ENSG00000096093ENST00000371068p.?c.1493-8C>TUnknown
TTC40ENSG00000171811ENST00000368586p.G1162Rc.3484G>ASubstitution - Missense
LGALS3BPENSG00000108679ENST00000262776p.T291Tc.873G>TSubstitution - coding silent
UBAC2ENSG00000134882ENST00000376440p.Q8Rc.23A>GSubstitution - Missense
NOX4ENSG00000086991ENST00000263317p.S256*c.767C>GSubstitution - Nonsense
PKMENSG00000067225ENST00000319622p.T10fs*52c.27delGDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.L3802Lc.11404C>TSubstitution - coding silent
ENO4ENSG00000188316ENST00000341276p.?c.1732+1G>AUnknown
PTGS2ENSG00000073756ENST00000367468p.S601Sc.1803G>TSubstitution - coding silent
LGI3ENSG00000168481ENST00000306317p.Y272Cc.815A>GSubstitution - Missense
KRTAP16-1ENSG00000212657ENST00000391352p.C319*c.957C>ASubstitution - Nonsense
XM_290799.5p.G1435Gc.4305C>TSubstitution - coding silent
CDH23ENSG00000107736ENST00000442677p.A431Ac.1293C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P191fs*56c.572delCDeletion - Frameshift
KIF18BENSG00000186185ENST00000590129p.P311Lc.932C>TSubstitution - Missense
KDELC1ENSG00000134901ENST00000376004p.V234Fc.700G>TSubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.R360Hc.1079G>ASubstitution - Missense
WTIPENSG00000142279ENST00000270288p.H426Qc.1278C>GSubstitution - Missense
AQRENSG00000021776ENST00000156471p.N1145Sc.3434A>GSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.R618Hc.1853G>ASubstitution - Missense
POSTNENSG00000133110ENST00000379747p.C60Fc.179G>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.G1174Wc.3520G>TSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.E464Kc.1390G>ASubstitution - Missense
DDX24ENSG00000089737ENST00000330836p.N859Tc.2576A>CSubstitution - Missense
BRDTENSG00000137948ENST00000362005p.?c.2003-9C>AUnknown
ENST00000356127p.D6289Vc.18866A>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P191fs*56c.572delCDeletion - Frameshift
ENTPD4ENSG00000197217ENST00000358689p.?c.1374+1G>AUnknown
CXCR4ENSG00000121966ENST00000409817p.S2Yc.5C>ASubstitution - Missense
SIX2ENSG00000170577ENST00000303077p.P250Lc.749C>TSubstitution - Missense
ZNF438ENSG00000183621ENST00000452305p.K138Ec.412A>GSubstitution - Missense
CD40LGENSG00000102245ENST00000370629p.A130Vc.389C>TSubstitution - Missense
TAGLN2ENSG00000158710ENST00000368096p.P180Hc.539C>ASubstitution - Missense
MEF2DENSG00000116604ENST00000340875p.L205Lc.615G>TSubstitution - coding silent
ANKARENSG00000151687ENST00000520309p.L292Sc.875T>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.V286Lc.856G>CSubstitution - Missense
DGKBENSG00000136267ENST00000258767p.Q460Hc.1380G>TSubstitution - Missense
AADACL4ENSG00000204518ENST00000376221p.R350Hc.1049G>ASubstitution - Missense
LCP1ENSG00000136167ENST00000323076p.A471Ec.1412C>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.R918Lc.2753G>TSubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.S1335fs*23c.4003delTDeletion - Frameshift
ZDHHC16ENSG00000171307ENST00000393760p.V286Lc.856G>TSubstitution - Missense
UBQLN4ENSG00000160803ENST00000368309p.?c.741+122_900+883del2552Unknown
UBR7ENSG00000012963ENST00000013070p.L307fs*14c.920delTDeletion - Frameshift
WNK2ENSG00000165238ENST00000297954p.P892Rc.2675C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R23494Hc.70481G>ASubstitution - Missense
LONP1ENSG00000196365ENST00000360614p.G242Gc.726C>ASubstitution - coding silent
SYMPKENSG00000125755ENST00000245934p.?c.172-3C>TUnknown
CCL11ENSG00000172156ENST00000305869p.V62Vc.186G>TSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.P1188Pc.3564A>GSubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.Q949Hc.2847G>CSubstitution - Missense
ANKS1AENSG00000064999ENST00000360359p.I826Ic.2478C>TSubstitution - coding silent
CDH23ENSG00000107736ENST00000299366p.A917Ac.2751C>TSubstitution - coding silent
CEP85LENSG00000111860ENST00000419517p.?c.1139+9A>GUnknown
SPHKAPENSG00000153820ENST00000392056p.V568Lc.1702G>TSubstitution - Missense
TMEFF2ENSG00000144339ENST00000272771p.E220Kc.658G>ASubstitution - Missense
TRIP11ENSG00000100815ENST00000267622p.R1028Qc.3083G>ASubstitution - Missense
TONSLENSG00000160949ENST00000409379p.L663Vc.1987C>GSubstitution - Missense
PGAP3ENSG00000161395ENST00000300658p.S107Lc.320C>TSubstitution - Missense
AMD1ENSG00000123505ENST00000368885p.T282Ac.844A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.S78Cc.232A>TSubstitution - Missense
BDKRB2ENSG00000168398ENST00000554311p.D385Hc.1153G>CSubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.G450Rc.1348G>CSubstitution - Missense
RASSF2ENSG00000101265ENST00000379400p.Y187Fc.560A>TSubstitution - Missense
RETENSG00000165731ENST00000340058p.A281Vc.842C>TSubstitution - Missense
INTS6ENSG00000102786ENST00000311234p.S792fs*8c.2375delCDeletion - Frameshift
ENST00000456956p.G50Gc.150C>TSubstitution - coding silent
NM_014815.2p.L128Lc.384C>GSubstitution - coding silent
NLRP8ENSG00000179709ENST00000291971p.?c.2876+6T>GUnknown
ENST00000344062p.L271Lc.813G>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.P4893Sc.14677C>TSubstitution - Missense
SLC34A2ENSG00000157765ENST00000382051p.?c.928-1G>AUnknown
RTN1ENSG00000139970ENST00000342503p.Q129Hc.387G>TSubstitution - Missense
ANKARENSG00000151687ENST00000313581p.Y222Nc.664T>ASubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.D352Hc.1054G>CSubstitution - Missense
ZNF543ENSG00000178229ENST00000321545p.G547Vc.1640G>TSubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.E538Gc.1613A>GSubstitution - Missense
OR5A2ENSG00000172324ENST00000302040p.T39Kc.116C>ASubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.G675Cc.2023G>TSubstitution - Missense
MOGAT2ENSG00000166391ENST00000198801p.I223Ic.669C>ASubstitution - coding silent
KRTAP5-1ENSG00000205869ENST00000382171p.S26Sc.78C>TSubstitution - coding silent
PRB1ENSG00000251655ENST00000500254p.P196Hc.587C>ASubstitution - Missense
ABCG4ENSG00000172350ENST00000307417p.P356Lc.1067C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D6289Vc.18866A>TSubstitution - Missense
ENGASEENSG00000167280ENST00000579016p.L549Lc.1647G>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.N1246Sc.3737A>GSubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.R164Qc.491G>ASubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.P536Lc.1607C>TSubstitution - Missense
GSNENSG00000148180ENST00000373823p.A562Ec.1685C>ASubstitution - Missense
ENST00000289348p.R67Qc.200G>ASubstitution - Missense
C20orf194ENSG00000088854ENST00000252032p.P1039Tc.3115C>ASubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.E185Kc.553G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.?c.3276+10G>AUnknown
RYR2ENSG00000198626ENST00000366574p.V2111Vc.6333G>TSubstitution - coding silent
ENST00000414575p.T274Rc.821C>GSubstitution - Missense
ATF7ENSG00000170653ENST00000548446p.?c.146-1G>TUnknown
SLC19A2ENSG00000117479ENST00000236137p.A338Ac.1014C>TSubstitution - coding silent
SCNN1DENSG00000162572ENST00000379116p.G629Gc.1887G>CSubstitution - coding silent
MCOLN2ENSG00000153898ENST00000370608p.L327Vc.979C>GSubstitution - Missense
CDK7ENSG00000134058ENST00000256443p.M196Vc.586A>GSubstitution - Missense
HMHB1ENSG00000158497ENST00000289448p.Y39Yc.117T>CSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
KLHL6ENSG00000172578ENST00000341319p.D182Dc.546C>TSubstitution - coding silent
SCNN1DENSG00000162572ENST00000379099p.G282Rc.844G>CSubstitution - Missense
OTOAENSG00000155719ENST00000286149p.?c.1531-10C>AUnknown
GYPCENSG00000136732ENST00000259254p.M49Ic.147G>ASubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.S78Cc.232A>TSubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.P128Lc.383C>TSubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.G668Vc.2003G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R224*c.670C>TSubstitution - Nonsense
C10orf88ENSG00000119965ENST00000481909p.?c.369-1G>CUnknown
TMTC4ENSG00000125247ENST00000342624p.L195Lc.585G>ASubstitution - coding silent
ADAMTS8ENSG00000134917ENST00000257359p.T245Rc.734C>GSubstitution - Missense
METTL11BENSG00000203740ENST00000439373p.A100Sc.298G>TSubstitution - Missense
ANKARENSG00000151687ENST00000313581p.R220fs*21c.658_664delAGATTATDeletion - Frameshift
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
U2AF1ENSG00000160201ENST00000380276p.G238Vc.713G>TSubstitution - Missense
ENST00000405167p.D3653Ec.10959C>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.V1600Lc.4798G>CSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.S983fs*9c.2943_2944insCAInsertion - Frameshift
GRIP1ENSG00000155974ENST00000359742p.G668Rc.2002G>ASubstitution - Missense
OR5M9ENSG00000150269ENST00000279791p.I45Vc.133A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.S73Cc.217A>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000359047p.S78Cc.232A>TSubstitution - Missense
ILF3ENSG00000129351ENST00000318511p.T122Sc.364A>TSubstitution - Missense
WDR26ENSG00000162923ENST00000295024p.A483Vc.1448C>TSubstitution - Missense
NPM3ENSG00000107833ENST00000370110p.G4Sc.10G>ASubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.R1295Wc.3883C>TSubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.G126Cc.376G>TSubstitution - Missense
TAS2R9ENSG00000121381ENST00000240691p.L205Ic.613C>ASubstitution - Missense
TRIM49CENSG00000204449ENST00000448984p.R408Gc.1222C>GSubstitution - Missense
ANKARENSG00000151687ENST00000520309p.R291fs*21c.871_877delAGATTATDeletion - Frameshift
GPR113ENSG00000173567ENST00000311519p.P224Sc.670C>TSubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.T215Ic.644C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
HAVCR2ENSG00000135077ENST00000307851p.E256Dc.768G>TSubstitution - Missense
OR14J1ENSG00000204695ENST00000377160p.P281Tc.841C>ASubstitution - Missense
GSNENSG00000148180ENST00000436847p.A573Ec.1718C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.V1743Lc.5227G>CSubstitution - Missense
PDE4DENSG00000113448ENST00000340635p.E321Kc.961G>ASubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.S550Lc.1649C>TSubstitution - Missense
CWC27ENSG00000153015ENST00000381070p.Y48Cc.143A>GSubstitution - Missense
MIOSENSG00000164654ENST00000405785p.A138Gc.413C>GSubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.V2205fs*30c.6609_6621del13Deletion - Frameshift
NCAPD3ENSG00000151503ENST00000534548p.P1435Pc.4305A>GSubstitution - coding silent
CEP164ENSG00000110274ENST00000278935p.A1319Tc.3955G>ASubstitution - Missense
NCF2ENSG00000116701ENST00000367536p.T148Ac.442A>GSubstitution - Missense
TRIM49CENSG00000204449ENST00000448984p.R408Gc.1222C>GSubstitution - Missense
TAS1R1ENSG00000173662ENST00000333172p.R329fs*1c.984_1000>AComplex - frameshift
PF4ENSG00000163737ENST00000296029p.G79Gc.237A>GSubstitution - coding silent
KRT37ENSG00000108417ENST00000225550p.T339Pc.1015A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D3653Ec.10959C>GSubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.L32Lc.96A>GSubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000326016p.H60Qc.180C>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000392953p.H60Qc.180C>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.D2323Yc.6967G>TSubstitution - Missense
APOL3ENSG00000128284ENST00000397293p.T162Sc.485C>GSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.Q460Hc.1380G>TSubstitution - Missense
ZNF280AENSG00000169548ENST00000302097p.N529Nc.1587C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.V2109Vc.6327G>TSubstitution - coding silent
ZNF251ENSG00000198169ENST00000292562p.R201Gc.601C>GSubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.A284Dc.851C>ASubstitution - Missense
PDE4DENSG00000113448ENST00000503258p.E191Kc.571G>ASubstitution - Missense
TDP1ENSG00000042088ENST00000393454p.K292Ec.874A>GSubstitution - Missense
CDK7ENSG00000134058ENST00000256443p.M196Vc.586A>GSubstitution - Missense
CGNENSG00000143375ENST00000271636p.N1171Kc.3513C>GSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.M1Vc.1A>GSubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.A209Sc.625G>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.E900_Q901insEc.2696_2697insAGAInsertion - In frame
FAIM3ENSG00000162894ENST00000367091p.H234Hc.702C>TSubstitution - coding silent
OR6N2ENSG00000188340ENST00000339258p.P182Tc.544C>ASubstitution - Missense
NUP133ENSG00000069248ENST00000261396p.?c.2076+5G>TUnknown
CD1CENSG00000158481ENST00000368170p.H123Pc.368A>CSubstitution - Missense
KRTAP9-2ENSG00000239886ENST00000377721p.C86Wc.258C>GSubstitution - Missense
APCDD1ENSG00000154856ENST00000355285p.L27Fc.79C>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.?c.2477-3C>AUnknown
OTOAENSG00000155719ENST00000388958p.?c.1489-10C>AUnknown
C1orf110ENSG00000185860ENST00000367911p.E178Qc.532G>CSubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.?c.3781+5C>GUnknown
TMEM2ENSG00000135048ENST00000377044p.V987Vc.2961G>CSubstitution - coding silent
WNK2ENSG00000165238ENST00000427277p.P504Rc.1511C>GSubstitution - Missense
NARS2ENSG00000137513ENST00000281038p.R51Cc.151C>TSubstitution - Missense
FAAH2ENSG00000165591ENST00000374900p.R436Cc.1306C>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.R880Hc.2639G>ASubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.T245Rc.734C>GSubstitution - Missense
SCNN1DENSG00000162572ENST00000338555p.G465Gc.1395G>CSubstitution - coding silent
WDR63ENSG00000162643ENST00000294664p.T214Kc.641C>ASubstitution - Missense
SHROOM3ENSG00000138771ENST00000296043p.P1398Pc.4194C>TSubstitution - coding silent
ENST00000377989p.I87Ic.261T>CSubstitution - coding silent
ENST00000405167p.D3373Ec.10119C>ASubstitution - Missense
ZNF470ENSG00000197016ENST00000330619p.H182Yc.544C>TSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.S921Sc.2763T>GSubstitution - coding silent
PDE4DENSG00000113448ENST00000317118p.E30Kc.88G>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.L236Mc.706T>ASubstitution - Missense
LDB3ENSG00000122367ENST00000372056p.R383Cc.1147C>TSubstitution - Missense
ENST00000368148p.Q471Hc.1413G>TSubstitution - Missense
ENST00000368148p.A1487Tc.4459G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.E1271Ac.3812A>CSubstitution - Missense
PRMT6ENSG00000198890ENST00000370078p.E130Ec.390G>ASubstitution - coding silent
TEX2ENSG00000136478ENST00000258991p.P744Pc.2232G>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.T706Ic.2117C>TSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.P779Sc.2335C>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.V1094Lc.3280G>CSubstitution - Missense
HSD17B7ENSG00000132196ENST00000254521p.A267Tc.799G>ASubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.L187Vc.559C>GSubstitution - Missense
NRG3ENSG00000185737ENST00000372142p.G229Rc.685G>CSubstitution - Missense
C6orf132ENSG00000188112ENST00000356542p.A67Dc.200C>ASubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.L382Fc.1146G>TSubstitution - Missense
KIF18BENSG00000186185ENST00000339151p.P302Lc.905C>TSubstitution - Missense
SLC37A4ENSG00000137700ENST00000330775p.S55Ic.164G>TSubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.K441Mc.1322A>TSubstitution - Missense
CD1DENSG00000158473ENST00000368171p.Y230Cc.689A>GSubstitution - Missense
PJA1ENSG00000181191ENST00000374584p.R153*c.457C>TSubstitution - Nonsense
SLC35C1ENSG00000181830ENST00000314134p.L156Lc.468G>TSubstitution - coding silent
PTGS2ENSG00000073756ENST00000367468p.S601Sc.1803G>TSubstitution - coding silent
ENST00000380781p.G532Dc.1595G>ASubstitution - Missense
MBNL1ENSG00000152601ENST00000324196p.?c.966+9A>TUnknown
OR9G4ENSG00000172457ENST00000302957p.S282Sc.846C>TSubstitution - coding silent
PLD5ENSG00000180287ENST00000427495p.K379Mc.1136A>TSubstitution - Missense
ENST00000324808p.?c.40+8C>TUnknown
GOPCENSG00000047932ENST00000368498p.Q97Ec.289C>GSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.E1358*c.4072G>TSubstitution - Nonsense
PDE4DENSG00000113448ENST00000360047p.E185Kc.553G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.?c.10347+6C>GUnknown
TNFAIP6ENSG00000123610ENST00000243347p.L167Fc.499C>TSubstitution - Missense
ATP13A3ENSG00000133657ENST00000256031p.?c.1710+7C>TUnknown
CPEENSG00000109472ENST00000402744p.A182Tc.544G>ASubstitution - Missense
FGF10ENSG00000070193ENST00000264664p.K124Ic.371A>TSubstitution - Missense
ENST00000373990p.I152Ic.456C>TSubstitution - coding silent
GPR116ENSG00000069122ENST00000265417p.D912Yc.2734G>TSubstitution - Missense
CRISP2ENSG00000124490ENST00000339139p.K128Nc.384G>TSubstitution - Missense
FAM86B1ENSG00000186523ENST00000431227p.?c.742+3A>TUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.G1162Rc.3484G>ASubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.A384Ac.1152A>TSubstitution - coding silent
NDST2ENSG00000166507ENST00000309979p.Q792Qc.2376G>ASubstitution - coding silent
NDST2ENSG00000166507ENST00000429742p.Q73Qc.219G>ASubstitution - coding silent
ZDHHC16ENSG00000171307ENST00000370846p.V216Lc.646G>TSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.Y209Cc.626A>GSubstitution - Missense
ENST00000540389p.G24Rc.70G>ASubstitution - Missense
COLGALT2ENSG00000198756ENST00000367520p.L235Lc.705G>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.T1315Tc.3945G>TSubstitution - coding silent
C15orf39ENSG00000167173ENST00000567617p.Q409Hc.1227G>TSubstitution - Missense
MED24ENSG00000008838ENST00000394128p.L128Lc.384C>GSubstitution - coding silent
ENGASEENSG00000167280ENST00000539857p.L129Pc.386T>CSubstitution - Missense
ILF3ENSG00000129351ENST00000420083p.T122Sc.364A>TSubstitution - Missense
KIAA1468ENSG00000134444ENST00000256858p.T712Rc.2135C>GSubstitution - Missense
ENST00000333145p.L38Pc.113T>CSubstitution - Missense
ANKARENSG00000151687ENST00000313581p.L221Sc.662T>CSubstitution - Missense
ANKARENSG00000151687ENST00000520309p.Y293Nc.877T>ASubstitution - Missense
ELF2ENSG00000109381ENST00000358635p.R224Rc.672G>ASubstitution - coding silent
OR5W2ENSG00000187612ENST00000344514p.F12fs*9c.33_34insGInsertion - Frameshift
PKMENSG00000067225ENST00000449901p.G25fs*15c.74delGDeletion - Frameshift
ATF7ENSG00000170653ENST00000591397p.?c.146-1G>TUnknown
ACTN1ENSG00000072110ENST00000394419p.L382Fc.1146G>TSubstitution - Missense
ENST00000377993p.I87Ic.261T>CSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.T3038Rc.9113C>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.P5036Sc.15106C>TSubstitution - Missense
NKX2-6ENSG00000180053ENST00000325017p.G52Vc.155G>TSubstitution - Missense
ENST00000292562_v68p.R244Gc.730C>GSubstitution - Missense
GSNENSG00000148180ENST00000373818p.A613Ec.1838C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
APTXENSG00000137074ENST00000379813p.R302Gc.904A>GSubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.P892Rc.2675C>GSubstitution - Missense
C6orf132ENSG00000188112ENST00000341865p.A67Dc.200C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.R194*c.580C>TSubstitution - Nonsense
C8orf31ENSG00000177335ENST00000395172p.E89Qc.265G>CSubstitution - Missense
BCORENSG00000183337ENST00000397354p.E756*c.2266G>TSubstitution - Nonsense
RETENSG00000165731ENST00000355710p.A281Vc.842C>TSubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.S414Cc.1241C>GSubstitution - Missense
ENST00000256007p.D428Yc.1282G>TSubstitution - Missense
ALDH3B2ENSG00000132746ENST00000530069p.R6Lc.17G>TSubstitution - Missense
IFT43ENSG00000119650ENST00000314067p.R57Hc.170G>ASubstitution - Missense
RAP1BENSG00000127314ENST00000250559p.R2Rc.6T>CSubstitution - coding silent
ZNF236ENSG00000130856ENST00000253159p.T302Tc.906G>ASubstitution - coding silent
GOPCENSG00000047932ENST00000535237p.Q97Ec.289C>GSubstitution - Missense
PDE4DENSG00000113448ENST00000405755p.E199Kc.595G>ASubstitution - Missense
ZNF880ENSG00000221923ENST00000422689p.N562Hc.1684A>CSubstitution - Missense
NM_022459.3p.Y881Cc.2642A>GSubstitution - Missense
TSEN54ENSG00000182173ENST00000333213p.S248Lc.743C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.R416*c.1246C>TSubstitution - Nonsense
SERPINA5ENSG00000188488ENST00000553780p.S85Fc.254C>TSubstitution - Missense
PKMENSG00000067225ENST00000335181p.T10fs*52c.27delGDeletion - Frameshift
CRADDENSG00000169372ENST00000332896p.R126Rc.378G>ASubstitution - coding silent
OR56A1ENSG00000180934ENST00000316650p.L201Lc.603T>ASubstitution - coding silent
ERLIN2ENSG00000147475ENST00000276461p.S158Sc.474C>TSubstitution - coding silent
PVALBENSG00000100362ENST00000216200p.?c.195-10T>CUnknown
DOPEY2ENSG00000142197ENST00000399151p.V1685Fc.5053G>TSubstitution - Missense
SOX4ENSG00000124766ENST00000244745p.D399Nc.1195G>ASubstitution - Missense
C7orf63ENSG00000105792ENST00000389297p.L394Fc.1182G>CSubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.L394Fc.1182G>CSubstitution - Missense
TCEB3CL2ENSG00000266996ENST00000591973p.S361Lc.1082C>TSubstitution - Missense
TNFRSF11AENSG00000141655ENST00000269485p.L219Lc.657C>TSubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.A315Ac.945C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R29799Hc.89396G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R23427Hc.70280G>ASubstitution - Missense
ENST00000356127p.R29797Hc.89390G>ASubstitution - Missense
NM_003319p.R23302Hc.69905G>ASubstitution - Missense
HSPD1ENSG00000144381ENST00000388968p.G204Gc.612A>CSubstitution - coding silent
C2orf66ENSG00000187944ENST00000342506p.?c.174+1G>TUnknown
ABI2ENSG00000138443ENST00000261017p.Q435*c.1303C>TSubstitution - Nonsense
ABI2ENSG00000138443ENST00000295851p.Q473*c.1417C>TSubstitution - Nonsense
PDIA2ENSG00000185615ENST00000219406p.A357Vc.1070C>TSubstitution - Missense
FPR3ENSG00000187474ENST00000339223p.V85Vc.255C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.D3373Ec.10119C>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.N661Hc.1981A>CSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.S1699_T1709>10c.5091_5126>33Unknown
GRID2ENSG00000152208ENST00000282020p.L583Mc.1747C>ASubstitution - Missense
KCNAB1ENSG00000169282ENST00000302490p.T28Tc.84C>GSubstitution - coding silent
PGRMC2ENSG00000164040ENST00000394276p.R115Rc.345C>GSubstitution - coding silent
ELF2ENSG00000109381ENST00000394235p.R272Rc.816G>ASubstitution - coding silent
CDKL5ENSG00000008086ENST00000379996p.V1002Ic.3004G>ASubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.L32Lc.96A>GSubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.E649Ec.1947G>ASubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.S921Sc.2763T>GSubstitution - coding silent
WDPCPENSG00000143951ENST00000272321p.N670Ic.2009A>TSubstitution - Missense
TSC22D4ENSG00000166925ENST00000300181p.I300Ic.900C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T2895Rc.8684C>GSubstitution - Missense
SLC7A3ENSG00000165349ENST00000374299p.A257Ac.771A>TSubstitution - coding silent
QPCTLENSG00000011478ENST00000012049p.?c.786+1_786+2insTUnknown
SULT1A2ENSG00000197165ENST00000395630p.K230Qc.688A>CSubstitution - Missense
PLEKHB2ENSG00000115762ENST00000404460p.R165Qc.494G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G2846Gc.8538T>ASubstitution - coding silent
DNAJC13ENSG00000138246ENST00000260818p.?c.2550-10T>AUnknown
NM_173823.1p.?c.699-10T>AUnknown
DCHS2ENSG00000197410ENST00000357232p.?c.980-3C>AUnknown
ZNF236ENSG00000130856ENST00000543926p.T302Tc.906G>ASubstitution - coding silent
APOL3ENSG00000128284ENST00000349314p.T233Sc.698C>GSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.E1781*c.5341G>TSubstitution - Nonsense
CEP85LENSG00000111860ENST00000368488p.?c.1148+9A>GUnknown
CEP85LENSG00000111860ENST00000368491p.?c.1139+9A>GUnknown
TAAR6ENSG00000146383ENST00000275198p.G235Dc.704G>ASubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.V323Vc.969G>ASubstitution - coding silent
AOC2ENSG00000131480ENST00000253799p.L243Lc.729G>ASubstitution - coding silent
STXBP4ENSG00000166263ENST00000376352p.E453Gc.1358A>GSubstitution - Missense
ENST00000270288_v71p.H650Qc.1950C>GSubstitution - Missense
FCN1ENSG00000085265ENST00000371806p.S44Cc.131C>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.V351Ec.1052T>ASubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.R313Rc.939G>TSubstitution - coding silent
NM_004224.1p.R313Rc.939G>TSubstitution - coding silent
CTNNA1ENSG00000044115ENST00000302763p.K448Kc.1344G>ASubstitution - coding silent
CDC25CENSG00000158402ENST00000323760p.?c.370-9C>GUnknown
PCDHB11ENSG00000197479ENST00000354757p.G218Rc.652G>ASubstitution - Missense
TRIM15ENSG00000204610ENST00000376694p.V454Vc.1362C>ASubstitution - coding silent
ZNF212ENSG00000170260ENST00000335870p.L471Lc.1413G>TSubstitution - coding silent
KCNH2ENSG00000055118ENST00000262186p.T152fs*14c.451delCDeletion - Frameshift
KCNH2ENSG00000055118ENST00000430723p.T152fs*14c.451delCDeletion - Frameshift
PKD1L1ENSG00000158683ENST00000289672p.A2Ac.6C>GSubstitution - coding silent
OTOAENSG00000155719ENST00000388957p.?c.517-10C>AUnknown
NEBENSG00000183091ENST00000427231p.?c.10347+6C>GUnknown
NID1ENSG00000116962ENST00000264187p.E737Kc.2209G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.A879Dc.2636C>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.A879Dc.2636C>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.L3532Lc.10594C>TSubstitution - coding silent
INF2ENSG00000203485ENST00000392634p.L722Lc.2166G>ASubstitution - coding silent
INF2ENSG00000203485ENST00000392634p.L722Lc.2166G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.L3014Lc.9042C>TSubstitution - coding silent
ZP1ENSG00000149506ENST00000278853p.T416Ac.1246A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.T1317Tc.3951G>TSubstitution - coding silent
CNTN5ENSG00000149972ENST00000524871p.T261Tc.783A>GSubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.T261Tc.783A>GSubstitution - coding silent
SU_LRRK2p.V2212fs*30c.6630_6642del13Deletion - Frameshift
TAGLN2ENSG00000158710ENST00000320307p.P159Hc.476C>ASubstitution - Missense
ENST00000563027_v68p.E464Kc.1390G>ASubstitution - Missense
C1orf110ENSG00000185860ENST00000367910p.E183Qc.547G>CSubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.G20Sc.58G>ASubstitution - Missense
TNRENSG00000116147ENST00000367674p.D247Ec.741C>ASubstitution - Missense
COLGALT2ENSG00000198756ENST00000361927p.L498Lc.1494G>TSubstitution - coding silent
GRIP1ENSG00000155974ENST00000398016p.G616Rc.1846G>ASubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.Q77Hc.231G>TSubstitution - Missense
PRMT6ENSG00000198890ENST00000361318p.E71Ec.213G>ASubstitution - coding silent
ARMC4ENSG00000169126ENST00000305242p.A859Ac.2577A>TSubstitution - coding silent
IFT43ENSG00000119650ENST00000238628p.R57Hc.170G>ASubstitution - Missense
TNP2ENSG00000178279ENST00000312693p.M118fs*>22c.348_349insAAInsertion - Frameshift
ENST00000417177p.?c.4383-5C>TUnknown
REEP3ENSG00000165476ENST00000373758p.L156Ic.466T>ASubstitution - Missense
ENST00000398860p.A919Ac.2757C>TSubstitution - coding silent
PPIHENSG00000171960ENST00000372549p.W43*c.129G>ASubstitution - Nonsense
NM_004073p.S459Sc.1377G>ASubstitution - coding silent
SU_KSR2p.Y241Cc.722A>GSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G1030fs*21c.3089delGDeletion - Frameshift
CYP4A11ENSG00000187048ENST00000310638p.N234Kc.702T>GSubstitution - Missense
AK7ENSG00000140057ENST00000267584p.S153Sc.459G>TSubstitution - coding silent
KPRPENSG00000203786ENST00000368773p.S415Sc.1245T>CSubstitution - coding silent
TNNI1ENSG00000159173ENST00000367312p.R154Qc.461G>ASubstitution - Missense
PICALMENSG00000073921ENST00000532317p.K339Kc.1017G>ASubstitution - coding silent
TRIM49CENSG00000204449ENST00000432771p.L341Lc.1023G>TSubstitution - coding silent
AUNIPENSG00000127423ENST00000538789p.R371Rc.1113G>ASubstitution - coding silent
DOCK7ENSG00000116641ENST00000340370p.?c.3688+5C>GUnknown
INADLENSG00000132849ENST00000371158p.L999Lc.2997C>TSubstitution - coding silent
RTN1ENSG00000139970ENST00000267484p.Q697Hc.2091G>TSubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.P436Tc.1306C>ASubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.P436Tc.1306C>ASubstitution - Missense
MON1BENSG00000103111ENST00000248248p.Y339Yc.1017C>TSubstitution - coding silent
IGF2BP1ENSG00000159217ENST00000290341p.P203Pc.609C>TSubstitution - coding silent
IKZF2ENSG00000030419ENST00000457361p.E466fs*22c.1395_1471del77Deletion - Frameshift
ZCCHC16ENSG00000187823ENST00000340433p.L235Fc.705G>TSubstitution - Missense
ZNF558ENSG00000167785ENST00000301475p.K365Kc.1095A>GSubstitution - coding silent
SU_WNK2p.P878Rc.2633C>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.P191fs*56c.572delCDeletion - Frameshift
TP53ENSG00000141510ENST00000413465p.P191fs*56c.572delCDeletion - Frameshift
ENST00000545858p.P98fs*56c.293delCDeletion - Frameshift
ENST00000414315p.P59fs*>32c.176delCDeletion - Frameshift
C20orf112ENSG00000197183ENST00000326071p.G50Gc.150C>TSubstitution - coding silent
CPNE1ENSG00000214078ENST00000317677p.?c.817-3C>TUnknown
HILPDAENSG00000135245ENST00000257696p.L46Vc.136C>GSubstitution - Missense
TAF4BENSG00000141384ENST00000269142p.K810Kc.2430A>GSubstitution - coding silent
SETBP1ENSG00000152217ENST00000282030p.R987Rc.2961G>CSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.P270fs*16c.805_806delCCDeletion - Frameshift
U2AF1ENSG00000160201ENST00000291552p.G238Vc.713G>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.T75Sc.223A>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.R58Sc.174G>TSubstitution - Missense
KRTAP3-1ENSG00000212901ENST00000391588p.G14Sc.40G>ASubstitution - Missense
TNS4ENSG00000131746ENST00000254051p.R224Lc.671G>TSubstitution - Missense
ENGASEENSG00000167280ENST00000579016p.L315Pc.944T>CSubstitution - Missense
SDC3ENSG00000162512ENST00000339394p.K436Rc.1307A>GSubstitution - Missense
ENAHENSG00000154380ENST00000366844p.S29Ac.85T>GSubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.S608Nc.1823G>ASubstitution - Missense
NM_001271.1p.S608Nc.1823G>ASubstitution - Missense
C15orf39ENSG00000167173ENST00000360639p.Q409Hc.1227G>TSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.Y1327Cc.3980A>GSubstitution - Missense
SU_QSKp.K108Nc.324G>CSubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.G10Rc.28G>CSubstitution - Missense
MCM9ENSG00000111877ENST00000316068p.G10Rc.28G>CSubstitution - Missense
KIAA1468ENSG00000134444ENST00000398130p.T712Rc.2135C>GSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.S134Cc.401C>GSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.L1654Vc.4960C>GSubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.M1Lc.1A>TSubstitution - Missense
ENST00000404449p.M2Lc.4A>TSubstitution - Missense
ENST00000292520p.L504Vc.1510C>GSubstitution - Missense
MTORENSG00000198793ENST00000361445p.V1801Gc.5402T>GSubstitution - Missense
CSPP1ENSG00000104218ENST00000262210p.Y520Cc.1559A>GSubstitution - Missense
XPOTENSG00000184575ENST00000332707p.T441Ac.1321A>GSubstitution - Missense
BAZ1BENSG00000009954ENST00000339594p.P1305Lc.3914C>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.R880Hc.2639G>ASubstitution - Missense
PPP1R13BENSG00000088808ENST00000202556p.Q1004Hc.3012G>CSubstitution - Missense
E2F2ENSG00000007968ENST00000361729p.S336Cc.1006A>TSubstitution - Missense
CRYGSENSG00000213139ENST00000307944p.Y21Cc.62A>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.S228Ac.682T>GSubstitution - Missense
TAF5LENSG00000135801ENST00000366675p.L187Vc.559C>GSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.R1971Hc.5912G>ASubstitution - Missense
GAKENSG00000178950ENST00000314167p.C1068Sc.3203G>CSubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.R743Hc.2228G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.A2983Sc.8947G>TSubstitution - Missense
ENST00000280576p.A1575Sc.4723G>TSubstitution - Missense
PLD5ENSG00000180287ENST00000366545p.K349Mc.1046A>TSubstitution - Missense
C1orf116ENSG00000182795ENST00000359470p.T497Ac.1489A>GSubstitution - Missense
SDC3ENSG00000162512ENST00000336798p.K378Rc.1133A>GSubstitution - Missense
CELA2BENSG00000215704ENST00000375910p.V83Mc.247G>ASubstitution - Missense
CELA2BENSG00000215704ENST00000422901p.V102Mc.304G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.Y4185*c.12555C>ASubstitution - Nonsense
FYTTD1ENSG00000122068ENST00000241502p.G310Wc.928G>TSubstitution - Missense
TAS2R8ENSG00000121314ENST00000240615p.E170*c.508G>TSubstitution - Nonsense
ENST00000279593p.Q1014Hc.3042G>TSubstitution - Missense
ENST00000402998p.R452*c.1354C>TSubstitution - Nonsense
RIMS2ENSG00000176406ENST00000507740p.R224*c.670C>TSubstitution - Nonsense
CPAMD8ENSG00000160111ENST00000291440p.R218Lc.653G>TSubstitution - Missense
ILF3ENSG00000129351ENST00000407004p.T122Sc.364A>TSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.?c.1947+8G>CUnknown
OLFM4ENSG00000102837ENST00000219022p.D384Yc.1150G>TSubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.Y908Cc.2723A>GSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.E880_Q881insEc.2636_2637insAGAInsertion - In frame
FDX1ENSG00000137714ENST00000260270p.C152fs*18c.453_454insGInsertion - Frameshift
GPR112ENSG00000156920ENST00000394143p.G1944*c.5830G>TSubstitution - Nonsense
PJA1ENSG00000181191ENST00000361478p.R341*c.1021C>TSubstitution - Nonsense
BCORENSG00000183337ENST00000378444p.E756*c.2266G>TSubstitution - Nonsense
DSCAMENSG00000171587ENST00000400454p.G1174Vc.3521G>TSubstitution - Missense
GTSF1ENSG00000170627ENST00000305879p.N142Nc.426T>CSubstitution - coding silent
ATF7ENSG00000170653ENST00000328463p.?c.146-1G>TUnknown
COL11A1ENSG00000060718ENST00000358392p.?c.3312+10G>AUnknown
AP3M1ENSG00000185009ENST00000372745p.?c.273+7T>AUnknown
ZMIZ1ENSG00000108175ENST00000334512p.K737Rc.2210A>GSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.L137Lc.411G>ASubstitution - coding silent
CCDC15ENSG00000149548ENST00000344762p.L137Lc.411G>ASubstitution - coding silent
OR8B4ENSG00000198657ENST00000356130p.E195Kc.583G>ASubstitution - Missense
RAG1ENSG00000166349ENST00000299440p.V895Ac.2684T>CSubstitution - Missense
MEF2DENSG00000116604ENST00000348159p.L206Lc.618G>TSubstitution - coding silent
LRRIQ1ENSG00000133640ENST00000393217p.D428Yc.1282G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P191fs*56c.572delCDeletion - Frameshift
SMARCA4ENSG00000127616ENST00000429416p.P270fs*16c.805_806delCCDeletion - Frameshift
LRP2ENSG00000081479ENST00000263816p.R1089Cc.3265C>TSubstitution - Missense
XM_051221.5p.V568Lc.1702G>TSubstitution - Missense
NM_000052.2p.R1295Wc.3883C>TSubstitution - Missense
CHMLENSG00000203668ENST00000366553p.K92Rc.275A>GSubstitution - Missense
C6orf132ENSG00000188112ENST00000341865p.A67Dc.200C>ASubstitution - Missense
ZNF438ENSG00000183621ENST00000361310p.K148Ec.442A>GSubstitution - Missense
WDR26ENSG00000162923ENST00000414423p.A630Vc.1889C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000502484p.E260Kc.778G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000507116p.E257Kc.769G>ASubstitution - Missense
CCDC117ENSG00000159873ENST00000249064p.R257Qc.770G>ASubstitution - Missense
ATPAF2ENSG00000171953ENST00000474627p.R238Hc.713G>ASubstitution - Missense
ZNF850ENSG00000267041ENST00000591344p.Y96Cc.287A>GSubstitution - Missense
ENST00000332454p.Y100Cc.299A>GSubstitution - Missense
GUCY2CENSG00000070019ENST00000261170p.G944Rc.2830G>ASubstitution - Missense
NAGKENSG00000124357ENST00000244204p.G243Sc.727G>ASubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.L601Fc.1801C>TSubstitution - Missense
UNC5CENSG00000182168ENST00000453304p.A556Sc.1666G>TSubstitution - Missense
C2CD2ENSG00000157617ENST00000380486p.P616Lc.1847C>TSubstitution - Missense
TMEM63BENSG00000137216ENST00000259746p.P413Sc.1237C>TSubstitution - Missense
ORC1ENSG00000085840ENST00000371568p.P312Sc.934C>TSubstitution - Missense
C5orf54ENSG00000221886ENST00000408953p.Y461Cc.1382A>GSubstitution - Missense
PRNPENSG00000171867ENST00000379440p.T15Ic.44C>TSubstitution - Missense


COSMIC

168 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
NPM3ENSG00000107833ENST00000370110p.G4Sc.10G>ASubstitution - Missense23856246
SLC16A6ENSG00000108932ENST00000327268p.G126Cc.376G>TSubstitution - Missense23856246
SLC12A4ENSG00000124067ENST00000316341p.C476Yc.1427G>ASubstitution - Missense23856246
CITENSG00000122966ENST00000392521p.R2000Cc.5998C>TSubstitution - Missense23856246
DOPEY2ENSG00000142197ENST00000399151p.L236Mc.706T>ASubstitution - Missense23856246
SLC12A2ENSG00000064651ENST00000262461p.G192_S193insGc.576_577insGGCInsertion - In frame23856246
NM_052947p.F750delFc.2244_2246delCTTDeletion - In frame23856246
FAAH2ENSG00000165591ENST00000374900p.R436Cc.1306C>TSubstitution - Missense23856246
NARS2ENSG00000137513ENST00000281038p.R51Cc.151C>TSubstitution - Missense23856246
TRIP11ENSG00000100815ENST00000267622p.R1028Qc.3083G>ASubstitution - Missense23856246
TRPM6ENSG00000119121ENST00000451710p.S78Cc.232A>TSubstitution - Missense23856246
SU_CRIKp.R1986Cc.5956C>TSubstitution - Missense23856246
BDKRB2ENSG00000168398ENST00000554311p.D385Hc.1153G>CSubstitution - Missense23856246
SPHKAPENSG00000153820ENST00000392056p.V568Lc.1702G>TSubstitution - Missense23856246
CITENSG00000122966ENST00000261833p.R1958Cc.5872C>TSubstitution - Missense23856246
ADAM33ENSG00000149451ENST00000356518p.Q804fs*>8c.2411_2418delAAGTCCAGDeletion - Frameshift23856246
MIOSENSG00000164654ENST00000405785p.A138Gc.413C>GSubstitution - Missense23856246
ZNF816ENSG00000180257ENST00000357666p.S550Lc.1649C>TSubstitution - Missense23856246
TMEM101ENSG00000091947ENST00000206380p.Y56Cc.167A>GSubstitution - Missense23856246
TAX1BP1ENSG00000106052ENST00000396319p.G668Vc.2003G>TSubstitution - Missense23856246
CCDC69ENSG00000198624ENST00000355417p.Q19*c.55C>TSubstitution - Nonsense23856246
ATP1A4ENSG00000132681ENST00000368081p.A634Dc.1901C>ASubstitution - Missense23856246
TRPM6ENSG00000119121ENST00000360774p.S78Cc.232A>TSubstitution - Missense23856246
GYPCENSG00000136732ENST00000259254p.M49Ic.147G>ASubstitution - Missense23856246
RIMS2ENSG00000176406ENST00000507740p.R224*c.670C>TSubstitution - Nonsense23856246
PASKENSG00000115687ENST00000234040p.R880Hc.2639G>ASubstitution - Missense23856246
SPENENSG00000065526ENST00000375759p.S260fs*5c.778_779insAInsertion - Frameshift23856246
RASSF2ENSG00000101265ENST00000379400p.Y187Fc.560A>TSubstitution - Missense23856246
MSH2ENSG00000095002ENST00000233146p.D352Hc.1054G>CSubstitution - Missense23856246
GLI2ENSG00000074047ENST00000361492p.E538Gc.1613A>GSubstitution - Missense23856246
NM_022459.3p.Y881Cc.2642A>GSubstitution - Missense23856246
TSEN54ENSG00000182173ENST00000333213p.S248Lc.743C>TSubstitution - Missense23856246
SERPINA5ENSG00000188488ENST00000553780p.S85Fc.254C>TSubstitution - Missense23856246
TCERG1ENSG00000113649ENST00000296702p.G8Rc.22G>ASubstitution - Missense23856246
RIMS2ENSG00000176406ENST00000406091p.R416*c.1246C>TSubstitution - Nonsense23856246
TP53ENSG00000141510ENST00000269305p.P191fs*56c.571delCDeletion - Frameshift23856246
CDH6ENSG00000113361ENST00000265071p.G675Cc.2023G>TSubstitution - Missense23856246
OR5A2ENSG00000172324ENST00000302040p.T39Kc.116C>ASubstitution - Missense23856246
ZNF543ENSG00000178229ENST00000321545p.G547Vc.1640G>TSubstitution - Missense23856246
PDE11AENSG00000128655ENST00000286063p.S920_S921insPc.2758_2759insCCCInsertion - In frame23856246
ENST00000402998p.R452*c.1354C>TSubstitution - Nonsense23856246
CRYGSENSG00000213139ENST00000307944p.Y21Cc.62A>GSubstitution - Missense23856246
ASPHENSG00000198363ENST00000379454p.Q141Hc.423G>TSubstitution - Missense23856246
SMARCA4ENSG00000127616ENST00000429416p.P270fs*16c.805_806delCCDeletion - Frameshift18386774
SPAG6ENSG00000077327ENST00000376624p.L383Mc.1147C>ASubstitution - Missense23856246
CELSR2ENSG00000143126ENST00000271332p.S228Ac.682T>GSubstitution - Missense23856246
USP49ENSG00000164663ENST00000373006p.D636fs*>7c.1894_1895insGTGGGInsertion - Frameshift23856246
PDGFDENSG00000170962ENST00000393158p.K160fs*41c.478delADeletion - Frameshift23856246
RIMS2ENSG00000176406ENST00000507740p.R224*c.670C>TSubstitution - Nonsense23856246
MTORENSG00000198793ENST00000361445p.V1801Gc.5402T>GSubstitution - Missense23856246
SDC3ENSG00000162512ENST00000336798p.K378Rc.1133A>GSubstitution - Missense23856246
OR52N1ENSG00000181001ENST00000317078p.A235Sc.703G>TSubstitution - Missense23856246
LRP2ENSG00000081479ENST00000263816p.R1089Cc.3265C>TSubstitution - Missense23856246
NPATENSG00000149308ENST00000278612p.S726delSc.2171_2173delCTTDeletion - In frame23856246
DKK3ENSG00000050165ENST00000396505p.N86Kc.258C>GSubstitution - Missense23856246
IFNKENSG00000147896ENST00000276943p.W13fs*4c.37_38insTTGTInsertion - Frameshift23856246
C15orf39ENSG00000167173ENST00000360639p.Q409Hc.1227G>TSubstitution - Missense23856246
WDR17ENSG00000150627ENST00000280190p.V271Ic.811G>ASubstitution - Missense23856246
CSPP1ENSG00000104218ENST00000262210p.Y520Cc.1559A>GSubstitution - Missense23856246
DOPEY2ENSG00000142197ENST00000399151p.Y1327Cc.3980A>GSubstitution - Missense23856246
NM_006596.3p.K1160delKc.3474_3476delAAADeletion - In frame23856246
GPR112ENSG00000156920ENST00000394143p.G1944*c.5830G>TSubstitution - Nonsense23856246
XM_051221.5p.V568Lc.1702G>TSubstitution - Missense23856246
XPO4ENSG00000132953ENST00000255305p.Y908Cc.2723A>GSubstitution - Missense23856246
GUCY2CENSG00000070019ENST00000261170p.G944Rc.2830G>ASubstitution - Missense23856246
C5orf54ENSG00000221886ENST00000408953p.Y461Cc.1382A>GSubstitution - Missense23856246
HAVCR1ENSG00000113249ENST00000339252p.T160_V161insTc.474_475insACAInsertion - In frame23856246
NR1H2ENSG00000131408ENST00000253727p.K172_Q173insRc.517_518insGACInsertion - In frame23856246
CELA2BENSG00000215704ENST00000375910p.V83Mc.247G>ASubstitution - Missense23856246
ENST00000545858p.P98fs*56c.292delCDeletion - Frameshift23856246
TAS1R1ENSG00000173662ENST00000333172p.R329_L334>Mc.986_1000del15Complex - deletion inframe23856246
PDGFDENSG00000170962ENST00000393158p.K160fs*41c.478delADeletion - Frameshift23856246
BCORENSG00000183337ENST00000378444p.E756*c.2266G>TSubstitution - Nonsense23856246
SMARCA4ENSG00000127616ENST00000358026p.P270fs*16c.809_810delCCDeletion - Frameshift23856246
ENST00000279593p.Q1014Hc.3042G>TSubstitution - Missense23856246
SDC3ENSG00000162512ENST00000339394p.K436Rc.1307A>GSubstitution - Missense23856246
XPOTENSG00000184575ENST00000332707p.T441Ac.1321A>GSubstitution - Missense23856246
ENST00000414315p.P59fs*>32c.175delCDeletion - Frameshift23856246
POSTNENSG00000133110ENST00000379747p.C60Fc.179G>TSubstitution - Missense23856246
ADORA1ENSG00000163485ENST00000309502p.A289Dc.866C>ASubstitution - Missense23856246
DSCAMENSG00000171587ENST00000400454p.G1174Wc.3520G>TSubstitution - Missense23856246
TNS1ENSG00000079308ENST00000171887p.R618Hc.1853G>ASubstitution - Missense23856246
KDELC1ENSG00000134901ENST00000376004p.V234Fc.700G>TSubstitution - Missense23856246
PRNPENSG00000171867ENST00000379440p.T15Ic.44C>TSubstitution - Missense23856246
SMARCA4ENSG00000127616ENST00000429416p.P270fs*16c.809_810delCCDeletion - Frameshift23856246
C1orf116ENSG00000182795ENST00000359470p.T497Ac.1489A>GSubstitution - Missense23856246
NM_001271.1p.S608Nc.1823G>ASubstitution - Missense23856246
FBXW8ENSG00000174989ENST00000309909p.V438fs*28c.1312_1313delGTDeletion - Frameshift23856246
KIAA0355ENSG00000166398ENST00000299505p.Q1039_P1042delQPPPc.3116_3127del12Deletion - In frame23856246
MCM9ENSG00000111877ENST00000316068p.G10Rc.28G>CSubstitution - Missense23856246
CHD2ENSG00000173575ENST00000394196p.S608Nc.1823G>ASubstitution - Missense23856246
PREPLENSG00000138078ENST00000260648p.P625Lc.1874C>TSubstitution - Missense23856246
MAP2ENSG00000078018ENST00000360351p.E1358*c.4072G>TSubstitution - Nonsense23856246
PJA1ENSG00000181191ENST00000374584p.R153*c.457C>TSubstitution - Nonsense23856246
ACTN1ENSG00000072110ENST00000193403p.L382Fc.1146G>TSubstitution - Missense23856246
ZNF408ENSG00000175213ENST00000311764p.V194_V197delVTEVc.581_592del12Deletion - In frame23856246
TP53ENSG00000141510ENST00000269305p.P191fs*56c.571delCDeletion - Frameshift23856246
PLD5ENSG00000180287ENST00000536534p.K441Mc.1322A>TSubstitution - Missense23856246
TAF5LENSG00000135801ENST00000258281p.L187Vc.559C>GSubstitution - Missense23856246
FAT2ENSG00000086570ENST00000261800p.K2750Nc.8250G>TSubstitution - Missense23856246
CD1DENSG00000158473ENST00000368171p.Y230Cc.689A>GSubstitution - Missense23856246
SPAG6ENSG00000077327ENST00000376603p.L459Mc.1375C>ASubstitution - Missense23856246
AQRENSG00000021776ENST00000156471p.N1145Sc.3434A>GSubstitution - Missense23856246
ILF3ENSG00000129351ENST00000318511p.T122Sc.364A>TSubstitution - Missense23856246
ENAHENSG00000154380ENST00000366844p.S29Ac.85T>GSubstitution - Missense23856246
TDP1ENSG00000042088ENST00000393454p.K292Ec.874A>GSubstitution - Missense23856246
FAM120CENSG00000184083ENST00000375180p.P111_Q112insPPc.314_315insGCCGCCInsertion - In frame23856246
HSPG2ENSG00000142798ENST00000374695p.R1971Hc.5912G>ASubstitution - Missense23856246
PBXIP1ENSG00000163346ENST00000368463p.E576*c.1726G>TSubstitution - Nonsense23856246
CNDP1ENSG00000150656ENST00000358821p.L20_E21insLc.60_61insCTGInsertion - In frame23856246
AADACL4ENSG00000204518ENST00000376221p.R350Hc.1049G>ASubstitution - Missense23856246
OLFM4ENSG00000102837ENST00000219022p.D384Yc.1150G>TSubstitution - Missense23856246
BZRAP1ENSG00000005379ENST00000355701p.S1417fs*40c.4247_4248insAInsertion - Frameshift23856246
FDX1ENSG00000137714ENST00000260270p.C152fs*18c.453_454insGInsertion - Frameshift23856246
ORC1ENSG00000085840ENST00000371568p.P312Sc.934C>TSubstitution - Missense23856246
ALPK2ENSG00000198796ENST00000361673p.F1389delFc.4161_4163delCTTDeletion - In frame23856246
CELA2BENSG00000215704ENST00000422901p.V102Mc.304G>ASubstitution - Missense23856246
MTX1ENSG00000173171ENST00000368376p.M1Lc.1A>TSubstitution - Missense23856246
TLR6ENSG00000174130ENST00000381950p.Q27*c.79C>TSubstitution - Nonsense23856246
PCDHA4ENSG00000204967ENST00000356878p.L528Vc.1582C>GSubstitution - Missense23856246
PASKENSG00000115687ENST00000234040p.R880Hc.2639G>ASubstitution - Missense23856246
CKAP5ENSG00000175216ENST00000529230p.S1335fs*23c.4003delTDeletion - Frameshift23856246
IFI27ENSG00000165949ENST00000298902p.A43_V44insMAAc.128_129insCATGGCGGCInsertion - In frame23856246
TAS2R8ENSG00000121314ENST00000240615p.E170*c.508G>TSubstitution - Nonsense23856246
TCHHENSG00000159450ENST00000368804p.R918Lc.2753G>TSubstitution - Missense23856246
LCP1ENSG00000136167ENST00000323076p.A471Ec.1412C>ASubstitution - Missense23856246
IGSF3ENSG00000143061ENST00000369483p.E900_Q901insEc.2696_2697insAGAInsertion - In frame23856246
BAZ1BENSG00000009954ENST00000339594p.P1305Lc.3914C>TSubstitution - Missense23856246
MCM9ENSG00000111877ENST00000316316p.G10Rc.28G>CSubstitution - Missense23856246
PDE11AENSG00000128655ENST00000358450p.S670_S671insPc.2008_2009insCCCInsertion - In frame23856246
TP53ENSG00000141510ENST00000413465p.P191fs*56c.571delCDeletion - Frameshift23856246
IGSF3ENSG00000143061ENST00000369486p.E880_Q881insEc.2636_2637insAGAInsertion - In frame23856246
RIMS2ENSG00000176406ENST00000436393p.R194*c.580C>TSubstitution - Nonsense23856246
C8orf31ENSG00000177335ENST00000395172p.E89Qc.265G>CSubstitution - Missense23856246
BCORENSG00000183337ENST00000397354p.E756*c.2266G>TSubstitution - Nonsense23856246
HMGCS2ENSG00000134240ENST00000369406p.R406Gc.1216A>GSubstitution - Missense23856246
NOX4ENSG00000086991ENST00000263317p.S256*c.767C>GSubstitution - Nonsense23856246
OR13A1ENSG00000256574ENST00000553795p.Y269fs*>61c.804_805insTInsertion - Frameshift23856246
UBAC2ENSG00000134882ENST00000376440p.Q8Rc.23A>GSubstitution - Missense23856246
OR5M9ENSG00000150269ENST00000279791p.L218Ic.652C>ASubstitution - Missense23856246
SPENENSG00000065526ENST00000438066p.S219fs*5c.655_656insAInsertion - Frameshift23856246
NAGKENSG00000124357ENST00000244204p.G243Sc.727G>ASubstitution - Missense23856246
TP53ENSG00000141510ENST00000455263p.P191fs*56c.571delCDeletion - Frameshift23856246
CLCN2ENSG00000114859ENST00000265593p.R646_Q647insRc.1928_1929insCCGInsertion - In frame23856246
CPAMD8ENSG00000160111ENST00000291440p.R218Lc.653G>TSubstitution - Missense23856246
TNS1ENSG00000079308ENST00000446903p.R743Hc.2228G>ASubstitution - Missense23856246
ZNF438ENSG00000183621ENST00000361310p.K148Ec.442A>GSubstitution - Missense23856246
BZRAP1ENSG00000005379ENST00000343736p.S1417fs*40c.4247_4248insAInsertion - Frameshift23856246
PLD5ENSG00000180287ENST00000366545p.K349Mc.1046A>TSubstitution - Missense23856246
PJA1ENSG00000181191ENST00000361478p.R341*c.1021C>TSubstitution - Nonsense23856246
CHMLENSG00000203668ENST00000366553p.K92Rc.275A>GSubstitution - Missense23856246
SU_LRRK2p.V2212fs*30c.6631_6643del13Deletion - Frameshift23856246
PCDHA3ENSG00000255408ENST00000522353p.E176fs*20c.526_529delGAATDeletion - Frameshift23856246
GAKENSG00000178950ENST00000314167p.C1068Sc.3203G>CSubstitution - Missense23856246
CCDC117ENSG00000159873ENST00000249064p.R257Qc.770G>ASubstitution - Missense23856246
TEKT3ENSG00000125409ENST00000395930p.Y12fs*1c.34_35insAInsertion - Frameshift23856246
FYTTD1ENSG00000122068ENST00000241502p.G310Wc.928G>TSubstitution - Missense23856246
GGNENSG00000179168ENST00000334928p.Q647*c.1939C>TSubstitution - Nonsense23856246
TAF5LENSG00000135801ENST00000366675p.L187Vc.559C>GSubstitution - Missense23856246
UPK1BENSG00000114638ENST00000264234p.A58Dc.173C>ASubstitution - Missense23856246
LRRK2ENSG00000188906ENST00000298910p.V2205fs*30c.6610_6622del13Deletion - Frameshift23856246
ENST00000378129p.E176fs*20c.526_529delGAATDeletion - Frameshift23856246
ILF3ENSG00000129351ENST00000407004p.T122Sc.364A>TSubstitution - Missense23856246
PCDHA4ENSG00000204967ENST00000530339p.L528Vc.1582C>GSubstitution - Missense23856246
DSCAMENSG00000171587ENST00000400454p.G1174Vc.3521G>TSubstitution - Missense23856246
SUPT6HENSG00000109111ENST00000314616p.L601Fc.1801C>TSubstitution - Missense23856246
PPP1R13BENSG00000088808ENST00000202556p.Q1004Hc.3012G>CSubstitution - Missense23856246
FAT2ENSG00000086570ENST00000261800p.Y4185*c.12555C>ASubstitution - Nonsense23856246