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DB - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

688 mutations reported
222 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
ESRRGENSG00000196482ENST00000408911p.S122Lc.365C>TSubstitution - Missense
ERO1LBENSG00000086619ENST00000354619p.R79*c.235C>TSubstitution - Nonsense
OR56A3ENSG00000184478ENST00000329564p.H29Yc.85C>TSubstitution - Missense
NLRX1ENSG00000160703ENST00000409265p.E531Ac.1592A>CSubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.Q1431Hc.4293G>TSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.P583Lc.1748C>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.F36Fc.108T>CSubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.V381Gc.1142T>GSubstitution - Missense
RELNENSG00000189056ENST00000343529p.Q3057Kc.9169C>ASubstitution - Missense
POU3F2ENSG00000184486ENST00000328345p.S15Sc.45C>TSubstitution - coding silent
SULF2ENSG00000196562ENST00000359930p.F275Fc.825C>TSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000341749p.G543Ec.1628G>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.A962Ac.2886T>CSubstitution - coding silent
MEI1ENSG00000167077ENST00000540880p.P159Sc.475C>TSubstitution - Missense
CAPN14ENSG00000214711ENST00000444918p.?c.1493+1G>AUnknown
DLC1ENSG00000164741ENST00000316609p.D86Dc.258C>TSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.E2386Ec.7158A>GSubstitution - coding silent
ESRRGENSG00000196482ENST00000408911p.A375Dc.1124C>ASubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.K268*c.802A>TSubstitution - Nonsense
PHRF1ENSG00000070047ENST00000416188p.R905Qc.2714G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.R905Qc.2714G>ASubstitution - Missense
PAPLNENSG00000100767ENST00000340738p.M666Tc.1997T>CSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.H72Lc.215A>TSubstitution - Missense
PRMT8ENSG00000111218ENST00000382622p.D112Dc.336C>TSubstitution - coding silent
LLGL1ENSG00000131899ENST00000316843p.L369Mc.1105C>ASubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.M197Lc.589A>TSubstitution - Missense
ATRNENSG00000088812ENST00000262919p.Y245Sc.734A>CSubstitution - Missense
TLK2ENSG00000146872ENST00000326270p.L239*c.716T>ASubstitution - Nonsense
TSPEARENSG00000175894ENST00000323084p.N366Sc.1097A>GSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.K2522Kc.7566G>ASubstitution - coding silent
AGKENSG00000006530ENST00000355413p.Q367Kc.1099C>ASubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.L1435Lc.4305G>ASubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.S575Ic.1724G>TSubstitution - Missense
DYNC1LI1ENSG00000144635ENST00000273130p.D230Nc.688G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S1327Sc.3981T>ASubstitution - coding silent
IP6K2ENSG00000068745ENST00000328631p.Q50*c.148C>TSubstitution - Nonsense
TROENSG00000067445ENST00000173898p.?c.1700+7C>TUnknown
ZNF407ENSG00000215421ENST00000582337p.?c.4803-9A>TUnknown
ENST00000316490_v65p.T3247Tc.9741G>ASubstitution - coding silent
NT5DC2ENSG00000168268ENST00000422318p.I273Ic.819C>TSubstitution - coding silent
BCRENSG00000186716ENST00000398512p.I282Ic.846C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.L119Lc.355C>TSubstitution - coding silent
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
DLC1ENSG00000164741ENST00000511869p.D86Dc.258C>TSubstitution - coding silent
SLC2A14ENSG00000173262ENST00000396589p.R148Hc.443G>ASubstitution - Missense
ENST00000377560_v62p.R3193Rc.9579C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.M5047Lc.15139A>CSubstitution - Missense
NACAENSG00000196531ENST00000550952p.E783Ec.2349A>GSubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.?c.3417+4A>TUnknown
ST8SIA2ENSG00000140557ENST00000268164p.D201Hc.601G>CSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.?c.1854-4_1864>14Unknown
TTC3ENSG00000182670ENST00000354749p.S1872Gc.5614A>GSubstitution - Missense
SSTR2ENSG00000180616ENST00000357585p.P220Pc.660C>GSubstitution - coding silent
SEC22CENSG00000093183ENST00000264454p.G163Wc.487G>TSubstitution - Missense
CEP63ENSG00000182923ENST00000337090p.L520Lc.1558T>CSubstitution - coding silent
EPB41L4BENSG00000095203ENST00000374566p.N624Ic.1871A>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.D567Dc.1701C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.T1234Tc.3702G>ASubstitution - coding silent
ENST00000311946_v70p.F357fs*37c.1067_1194del128Deletion - Frameshift
TRPV1ENSG00000196689ENST00000174621p.A160Ac.480C>ASubstitution - coding silent
OR2G2ENSG00000177489ENST00000320065p.E183Kc.547G>ASubstitution - Missense
SERHL2ENSG00000183569ENST00000327678p.V296Mc.886G>ASubstitution - Missense
CCDC81ENSG00000149201ENST00000445632p.P18Sc.52C>TSubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.P111Lc.332C>TSubstitution - Missense
SPTBENSG00000070182ENST00000542895p.D1088Yc.3262G>TSubstitution - Missense
OSGIN1ENSG00000140961ENST00000343939p.?c.317-3C>AUnknown
TMC6ENSG00000141524ENST00000322914p.Y343Hc.1027T>CSubstitution - Missense
LRRC45ENSG00000169683ENST00000306688p.L174Fc.520C>TSubstitution - Missense
XM_374491.1p.S203Cc.607A>TSubstitution - Missense
KIFC3ENSG00000140859ENST00000379655p.T209Tc.627C>TSubstitution - coding silent
SHISA5ENSG00000164054ENST00000296444p.Y221Sc.662A>CSubstitution - Missense
SH3BP2ENSG00000087266ENST00000356331p.R342Rc.1024C>ASubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.G290Rc.868G>ASubstitution - Missense
LCN1ENSG00000160349ENST00000263598p.P127Pc.381G>ASubstitution - coding silent
ENST00000316490p.T3199Tc.9597G>ASubstitution - coding silent
OR52N4ENSG00000181074ENST00000317254p.F96Yc.287T>ASubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.N172Nc.516C>TSubstitution - coding silent
LMAN1LENSG00000140506ENST00000309664p.K40Ec.118A>GSubstitution - Missense
SPRY2ENSG00000136158ENST00000377104p.N295fs*>21c.884delADeletion - Frameshift
NEURL1ENSG00000107954ENST00000369780p.Y207Yc.621C>TSubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.D1088Yc.3262G>TSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.Y1564*c.4692C>ASubstitution - Nonsense
TRPM3ENSG00000083067ENST00000377105p.A1240Vc.3719C>TSubstitution - Missense
ENST00000242365_v65p.R1162Mc.3485G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
SLC9A4ENSG00000180251ENST00000295269p.V261Vc.783C>TSubstitution - coding silent
ZBTB45ENSG00000119574ENST00000354590p.F15Cc.44T>GSubstitution - Missense
NM_006904p.L1436Lc.4308G>ASubstitution - coding silent
DYSFENSG00000135636ENST00000258104p.K1598*c.4792A>TSubstitution - Nonsense
SEC22CENSG00000093183ENST00000273156p.G163Wc.487G>TSubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.G322Rc.964G>CSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.V260Ic.778G>ASubstitution - Missense
IFNA8ENSG00000120242ENST00000380205p.A163Sc.487G>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.S2139fs*52c.6416delCDeletion - Frameshift
PSG11ENSG00000243130ENST00000401740p.T113Tc.339C>TSubstitution - coding silent
PTGS1ENSG00000095303ENST00000362012p.L14Pc.41T>CSubstitution - Missense
AGLENSG00000162688ENST00000361522p.D58Gc.173A>GSubstitution - Missense
SRSF1ENSG00000136450ENST00000582730p.N121Tc.362A>CSubstitution - Missense
RXRBENSG00000204231ENST00000413614p.V123Fc.367G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.Q2466*c.7396C>TSubstitution - Nonsense
ANKRD30AENSG00000148513ENST00000602533p.S1204Sc.3612C>ASubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.L614Rc.1841T>GSubstitution - Missense
NM_002837.2p.P377Sc.1129C>TSubstitution - Missense
ENST00000414268p.S198Fc.593C>TSubstitution - Missense
IGF2BP1ENSG00000159217ENST00000290341p.N128Sc.383A>GSubstitution - Missense
LEPROTL1ENSG00000104660ENST00000523116p.?c.17-4G>TUnknown
SLC7A6ENSG00000103064ENST00000219343p.Y163fs*51c.485_486insCInsertion - Frameshift
PRMT7ENSG00000132600ENST00000339507p.T84Sc.250A>TSubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.T454Tc.1362C>ASubstitution - coding silent
EHMT2ENSG00000204371ENST00000395728p.P22Pc.66G>TSubstitution - coding silent
CREMENSG00000095794ENST00000487763p.*122Qc.364T>CNonstop extension
PLA2G4CENSG00000105499ENST00000599111p.?c.821-7T>GUnknown
FBXO24ENSG00000106336ENST00000427939p.?c.154-6G>CUnknown
FBXO24ENSG00000106336ENST00000241071p.?c.40-6G>CUnknown
MEF2CENSG00000081189ENST00000424173p.Y69Hc.205T>CSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.V790Ic.2368G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
ZBTB40ENSG00000184677ENST00000404138p.P570Ac.1708C>GSubstitution - Missense
MED13LENSG00000123066ENST00000281928p.T1085Pc.3253A>CSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.Q578Lc.1733A>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.499-9T>AUnknown
PTPRBENSG00000127329ENST00000261266p.P377Sc.1129C>TSubstitution - Missense
GZF1ENSG00000125812ENST00000338121p.T594Ic.1781C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.A1381Vc.4142C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.A1253Vc.3758C>TSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.S889Cc.2665A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.V22685Vc.68055T>CSubstitution - coding silent
VN1R4ENSG00000228567ENST00000311170p.M66Ic.198G>CSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.C868Fc.2603G>TSubstitution - Missense
SLC2A4ENSG00000181856ENST00000317370p.Q321Lc.962A>TSubstitution - Missense
TREML1ENSG00000161911ENST00000373127p.N150Kc.450C>ASubstitution - Missense
NM_053025p.P1098Sc.3292C>TSubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.V204Lc.610G>TSubstitution - Missense
SNX31ENSG00000174226ENST00000311812p.F110Ic.328T>ASubstitution - Missense
PCDHA9ENSG00000204961ENST00000378122p.Q65Rc.194A>GSubstitution - Missense
NEBENSG00000183091ENST00000397345p.K2698Kc.8094G>ASubstitution - coding silent
TLL1ENSG00000038295ENST00000061240p.E939*c.2815G>TSubstitution - Nonsense
KCNH8ENSG00000183960ENST00000328405p.A231Ac.693A>GSubstitution - coding silent
ZNF530ENSG00000183647ENST00000332854p.H285Hc.855C>TSubstitution - coding silent
PDLIM5ENSG00000163110ENST00000538141p.A177Ac.531C>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.Q2736*c.8206C>TSubstitution - Nonsense
MIB2ENSG00000197530ENST00000355826p.R606Wc.1816C>TSubstitution - Missense
ENST00000281753p.Q155Kc.463C>ASubstitution - Missense
PLEKHF1ENSG00000166289ENST00000436066p.P52Lc.155C>TSubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.?c.2070-9G>TUnknown
PREX2ENSG00000046889ENST00000288368p.G606Vc.1817G>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.S575Ic.1724G>TSubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.R171Hc.512G>ASubstitution - Missense
ROPN1BENSG00000114547ENST00000251776p.?c.397-5T>CUnknown
WNT7BENSG00000188064ENST00000339464p.?c.571-4G>AUnknown
ALS2CLENSG00000178038ENST00000318962p.V590Vc.1770G>TSubstitution - coding silent
SRSF1ENSG00000136450ENST00000258962p.V125Gc.374T>GSubstitution - Missense
TRIM26ENSG00000234127ENST00000453195p.T218Mc.653C>TSubstitution - Missense
BCRENSG00000186716ENST00000305877p.I282Ic.846C>TSubstitution - coding silent
PDHXENSG00000110435ENST00000448838p.K445Nc.1335A>TSubstitution - Missense
NEURL1ENSG00000107954ENST00000369777p.Y190Yc.570C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.T1357Mc.4070C>TSubstitution - Missense
AZU1ENSG00000172232ENST00000233997p.R123Lc.368G>TSubstitution - Missense
CHRM5ENSG00000184984ENST00000383263p.E310Vc.929A>TSubstitution - Missense
STAG2ENSG00000101972ENST00000218089p.H73Lc.218A>TSubstitution - Missense
ENST00000309305p.H431Yc.1291C>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.L442Hc.1325T>ASubstitution - Missense
PTGR1ENSG00000106853ENST00000309195p.R266Hc.797G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.D2138Ac.6413A>CSubstitution - Missense
ASIC3ENSG00000213199ENST00000349064p.?c.814-7C>AUnknown
ENPP3ENSG00000154269ENST00000427148p.G45Dc.134G>ASubstitution - Missense
TBCEENSG00000116957ENST00000366601p.V460Dc.1379T>ASubstitution - Missense
NM_130398.2p.Q774Lc.2321A>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.I1566Mc.4698T>GSubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.L1054Vc.3160C>GSubstitution - Missense
ADAM15ENSG00000143537ENST00000356955p.E379Kc.1135G>ASubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.P732Tc.2194C>ASubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.Q1378Hc.4134A>CSubstitution - Missense
HUNKENSG00000142149ENST00000270112p.I90Ic.270A>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.L363Pc.1088T>CSubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.V843Lc.2527G>TSubstitution - Missense
HNRNPA2B1ENSG00000122566ENST00000356674p.W32Lc.95G>TSubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.I367fs*2c.1098_1099delGADeletion - Frameshift
ANXA4ENSG00000196975ENST00000394295p.K59Ec.175A>GSubstitution - Missense
PPP1R13LENSG00000104881ENST00000360957p.G561Rc.1681G>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000308713p.G409Rc.1225G>ASubstitution - Missense
PFKFB1ENSG00000158571ENST00000375006p.R269Hc.806G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.D2138Ac.6413A>CSubstitution - Missense
CCL16ENSG00000161573ENST00000293275p.V68Dc.203T>ASubstitution - Missense
BCRENSG00000186716ENST00000305877p.D225Ac.674A>CSubstitution - Missense
NEBENSG00000183091ENST00000409198p.K2698Kc.8094G>ASubstitution - coding silent
OR5D16ENSG00000205029ENST00000378396p.C262*c.786T>ASubstitution - Nonsense
GOLGA6L4ENSG00000184206ENST00000424966p.?c.8+4G>AUnknown
ERN1ENSG00000178607ENST00000433197p.P97Pc.291T>ASubstitution - coding silent
ST6GAL2ENSG00000144057ENST00000409087p.S102Sc.306C>TSubstitution - coding silent
TAGAPENSG00000164691ENST00000367066p.R453Lc.1358G>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Wc.742C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.D86Dc.258C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000368813p.R242fs*52c.724_725insAInsertion - Frameshift
ESRRBENSG00000119715ENST00000380887p.M227Vc.679A>GSubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.G173*c.517G>TSubstitution - Nonsense
GPR87ENSG00000138271ENST00000260843p.N13Nc.39C>TSubstitution - coding silent
TAGAPENSG00000164691ENST00000367066p.P447_A454delPGSVLPRAc.1338_1361del24Deletion - In frame
BRAT1ENSG00000106009ENST00000340611p.?c.282+10G>AUnknown
GPR4ENSG00000177464ENST00000323040p.L205Lc.613C>TSubstitution - coding silent
LCTENSG00000115850ENST00000264162p.A785Sc.2353G>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R1188Gc.3562A>GSubstitution - Missense
OR2A14ENSG00000221938ENST00000408899p.C126Fc.377G>TSubstitution - Missense
NM_152574.1p.T421Mc.1262C>TSubstitution - Missense
TOX3ENSG00000103460ENST00000407228p.A343Vc.1028C>TSubstitution - Missense
CREMENSG00000095794ENST00000490511p.*114Qc.340T>CNonstop extension
NM_004452.2p.M227Vc.679A>GSubstitution - Missense
GPHNENSG00000171723ENST00000478722p.G18*c.52G>TSubstitution - Nonsense
TRPM3ENSG00000083067ENST00000423814p.A1385Vc.4154C>TSubstitution - Missense
AIREENSG00000160224ENST00000291582p.R92Qc.275G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.L2036Lc.6108G>TSubstitution - coding silent
PDLIM5ENSG00000163110ENST00000317968p.A300Ac.900C>ASubstitution - coding silent
ENST00000396566p.T218Tc.654A>GSubstitution - coding silent
CHN2ENSG00000106069ENST00000539406p.T168Mc.503C>TSubstitution - Missense
NR4A3ENSG00000119508ENST00000338488p.T28Tc.84G>ASubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
SMIM23ENSG00000185662ENST00000330910p.Q134Rc.401A>GSubstitution - Missense
ESRRGENSG00000196482ENST00000391890p.A359Dc.1076C>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.E869Ec.2607G>ASubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.G867Gc.2601C>GSubstitution - coding silent
PROSER2ENSG00000148426ENST00000277570p.T167Pc.499A>CSubstitution - Missense
PROSER2ENSG00000148426ENST00000277570p.D169Dc.507T>CSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.S327Gc.979A>GSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.G359Gc.1077G>ASubstitution - coding silent
NOL9ENSG00000162408ENST00000377705p.S242Cc.725C>GSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.S772Sc.2316G>ASubstitution - coding silent
ENST00000423537_v68p.E308Kc.922G>ASubstitution - Missense
CLUHENSG00000132361ENST00000435359p.P800Lc.2399C>TSubstitution - Missense
NPFFR2ENSG00000056291ENST00000308744p.F385Fc.1155T>CSubstitution - coding silent
DENND2AENSG00000146966ENST00000275884p.?c.996-10C>GUnknown
ZNF117ENSG00000152926ENST00000282869p.N147fs*7c.440_441insAInsertion - Frameshift
CACNA1GENSG00000006283ENST00000354983p.G717Cc.2149G>TSubstitution - Missense
CYP2A6ENSG00000255974ENST00000301141p.Y351*c.1053C>ASubstitution - Nonsense
TANC1ENSG00000115183ENST00000263635p.L219Mc.655C>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.E696Ec.2088A>GSubstitution - coding silent
SRSF1ENSG00000136450ENST00000582730p.V125Gc.374T>GSubstitution - Missense
RXRBENSG00000204231ENST00000544186p.V29Fc.85G>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.S1396Sc.4188T>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.V790Ic.2368G>ASubstitution - Missense
TBCEENSG00000116957ENST00000543662p.V511Dc.1532T>ASubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.H1539Lc.4616A>TSubstitution - Missense
ENST00000260246p.C91Sc.272G>CSubstitution - Missense
ENSG00000234719ENST00000399147p.P379Tc.1135C>ASubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.H72Lc.215A>TSubstitution - Missense
KIAA1045ENSG00000122733ENST00000242315p.S309Gc.925A>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.P800Lc.2399C>TSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.R231Gc.691A>GSubstitution - Missense
ZNF141ENSG00000131127ENST00000240499p.R378Rc.1132C>ASubstitution - coding silent
MC5RENSG00000176136ENST00000324750p.R149Cc.445C>TSubstitution - Missense
IRF8ENSG00000140968ENST00000268638p.Q422fs*>5c.1263delCDeletion - Frameshift
ENST00000226094p.R361Cc.1081C>TSubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.V258Ic.772G>ASubstitution - Missense
HNRNPA2B1ENSG00000122566ENST00000354667p.W44Lc.131G>TSubstitution - Missense
BCAMENSG00000187244ENST00000270233p.G118Gc.354C>TSubstitution - coding silent
ENST00000382675p.K575*c.1723A>TSubstitution - Nonsense
CACNA1GENSG00000006283ENST00000416767p.G717Cc.2149G>TSubstitution - Missense
PHLDB3ENSG00000176531ENST00000292140p.?c.1428+2T>GUnknown
FAM83DENSG00000101447ENST00000217429p.E67Kc.199G>ASubstitution - Missense
CYP2A7ENSG00000198077ENST00000291764p.Y300*c.900C>ASubstitution - Nonsense
PTPRSENSG00000105426ENST00000372412p.R1163Cc.3487C>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.M2068Ic.6204G>ASubstitution - Missense
TOX3ENSG00000103460ENST00000219746p.A348Vc.1043C>TSubstitution - Missense
IARS2ENSG00000067704ENST00000302637p.R784Wc.2350C>TSubstitution - Missense
OGDHENSG00000105953ENST00000222673p.F1014Fc.3042C>TSubstitution - coding silent
RAB6AENSG00000175582ENST00000310653p.R60Rc.178C>ASubstitution - coding silent
XM_048898.8p.P728Pc.2184C>ASubstitution - coding silent
SERINC4ENSG00000184716ENST00000249714p.S48fs*38c.143_144delCTDeletion - Frameshift
KIF16BENSG00000089177ENST00000408042p.R603Rc.1809T>GSubstitution - coding silent
DHX34ENSG00000134815ENST00000328771p.A981Tc.2941G>ASubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.F15Cc.44T>GSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.N1135Yc.3403A>TSubstitution - Missense
TOP3BENSG00000100038ENST00000413067p.?c.391+7C>TUnknown
BCRENSG00000186716ENST00000398512p.D225Ac.674A>CSubstitution - Missense
SHISA5ENSG00000164054ENST00000426002p.Y118Sc.353A>CSubstitution - Missense
EDEM1ENSG00000134109ENST00000256497p.P157Rc.470C>GSubstitution - Missense
NT5DC2ENSG00000168268ENST00000307076p.I236Ic.708C>TSubstitution - coding silent
SH3BP2ENSG00000087266ENST00000503393p.R399Rc.1195C>ASubstitution - coding silent
SERINC4ENSG00000184716ENST00000319327p.S292fs*38c.875_876delCTDeletion - Frameshift
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQQc.912_913ins21Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQQc.891_892ins21Insertion - In frame
CTAGE5ENSG00000150527ENST00000341502p.G555Ec.1664G>ASubstitution - Missense
HERC5ENSG00000138646ENST00000264350p.F632Fc.1896T>CSubstitution - coding silent
ENST00000330910_v70p.Q134Rc.401A>GSubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.A1123Vc.3368C>TSubstitution - Missense
FAM65BENSG00000111913ENST00000538035p.S868Ic.2603G>TSubstitution - Missense
FAM65BENSG00000111913ENST00000538035p.S868Cc.2602A>TSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.?c.996-10C>GUnknown
CACNA2D1ENSG00000153956ENST00000356253p.N1042Kc.3126T>ASubstitution - Missense
SUN3ENSG00000164744ENST00000453192p.L318Pc.953T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.S3095Lc.9284C>TSubstitution - Missense
TTC39BENSG00000155158ENST00000380850p.T474Mc.1421C>TSubstitution - Missense
PLIN2ENSG00000147872ENST00000380465p.R93Kc.278G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.Q1437Hc.4311G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.S3144Lc.9431C>TSubstitution - Missense
TMTC3ENSG00000139324ENST00000266712p.L725Lc.2175G>ASubstitution - coding silent
C10orf35ENSG00000171224ENST00000421716p.G7Ec.20G>ASubstitution - Missense
SCUBE2ENSG00000175356ENST00000457346p.R874Cc.2620C>TSubstitution - Missense
ZC3H14ENSG00000100722ENST00000318308p.P302Tc.904C>ASubstitution - Missense
HGSENSG00000185359ENST00000329138p.K344*c.1030A>TSubstitution - Nonsense
BCL2ENSG00000171791ENST00000444484p.L119Lc.355C>TSubstitution - coding silent
HAT1ENSG00000128708ENST00000264108p.L305Ic.913T>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.Y251Yc.753C>TSubstitution - coding silent
ALS2ENSG00000003393ENST00000467448p.Q122Qc.366G>ASubstitution - coding silent
PPP2R3AENSG00000073711ENST00000334546p.G414Gc.1242C>ASubstitution - coding silent
PIM1ENSG00000137193ENST00000373509p.?c.607+6C>TUnknown
CACNA1GENSG00000006283ENST00000416767p.G290Rc.868G>ASubstitution - Missense
ENPP3ENSG00000154269ENST00000357639p.G79Dc.236G>ASubstitution - Missense
CDSNENSG00000204539ENST00000376288p.D472Nc.1414G>ASubstitution - Missense
MEI1ENSG00000167077ENST00000540880p.S160Sc.480C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.L119Lc.355C>TSubstitution - coding silent
SNAP25ENSG00000132639ENST00000254976p.R161Cc.481C>TSubstitution - Missense
AGLENSG00000162688ENST00000370163p.D75Gc.224A>GSubstitution - Missense
PTGFRNENSG00000134247ENST00000393203p.L846Lc.2538G>CSubstitution - coding silent
SZT2ENSG00000198198ENST00000562955p.I2408Mc.7224T>GSubstitution - Missense
NLRX1ENSG00000160703ENST00000292199p.E531Ac.1592A>CSubstitution - Missense
ENST00000312105p.P287Pc.861C>ASubstitution - coding silent
SERPINA9ENSG00000170054ENST00000337425p.K391Qc.1171A>CSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.Q698Rc.2093A>GSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.E324Dc.972G>CSubstitution - Missense
ASGR1ENSG00000141505ENST00000380920p.H27Qc.81C>ASubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.T577Tc.1731G>ASubstitution - coding silent
XM_051221.5p.Q69Kc.205C>ASubstitution - Missense
PCCBENSG00000114054ENST00000251654p.P425Lc.1274C>TSubstitution - Missense
TROENSG00000067445ENST00000319167p.?c.1700+7C>TUnknown
MEF2CENSG00000081189ENST00000504921p.Y69Hc.205T>CSubstitution - Missense
NM_016291.1p.Q50*c.148C>TSubstitution - Nonsense
NOTCH1ENSG00000148400ENST00000277541p.G785Gc.2355T>CSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.F2193Yc.6578T>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.K2698Kc.8094G>ASubstitution - coding silent
OVCH2ENSG00000183378ENST00000454689p.Y489Cc.1466A>GSubstitution - Missense
LHX1ENSG00000132130ENST00000254457p.E402Kc.1204G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Wc.742C>TSubstitution - Missense
NIPAL4ENSG00000172548ENST00000311946p.F295fs*37c.881_1008del128Deletion - Frameshift
TRIM26ENSG00000234127ENST00000454678p.T218Mc.653C>TSubstitution - Missense
OR2H1ENSG00000204688ENST00000377132p.M1Ic.3G>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.R362Sc.1086G>TSubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.S106Ac.316T>GSubstitution - Missense
C7orf60ENSG00000164603ENST00000297145p.A126Pc.376G>CSubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.H824Pc.2471A>CSubstitution - Missense
ASIC3ENSG00000213199ENST00000357922p.?c.814-7C>AUnknown
OGDHENSG00000105953ENST00000543843p.F965Fc.2895C>TSubstitution - coding silent
SUN3ENSG00000164744ENST00000395572p.L330Pc.989T>CSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.A916Gc.2747C>GSubstitution - Missense
FIGNL1ENSG00000132436ENST00000395556p.V9Lc.25G>CSubstitution - Missense
ZPBPENSG00000042813ENST00000046087p.G307Gc.921A>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.H1985Rc.5954A>GSubstitution - Missense
ZNF233ENSG00000159915ENST00000391958p.Y606Hc.1816T>CSubstitution - Missense
NM_133170.2p.N1147Yc.3439A>TSubstitution - Missense
SGK2ENSG00000101049ENST00000341458p.P65Lc.194C>TSubstitution - Missense
USP46ENSG00000109189ENST00000441222p.G24Sc.70G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.?c.1204+7C>TUnknown
TOP3BENSG00000100038ENST00000357179p.?c.1204+7C>TUnknown
TBR1ENSG00000136535ENST00000389554p.A259Ac.777G>ASubstitution - coding silent
AKNAENSG00000106948ENST00000307564p.E57Ec.171G>ASubstitution - coding silent
LAMC3ENSG00000050555ENST00000361069p.D841Gc.2522A>GSubstitution - Missense
EPHB3ENSG00000182580ENST00000330394p.V575Mc.1723G>ASubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.A20Sc.58G>TSubstitution - Missense
IL1RAPENSG00000196083ENST00000072516p.A20Sc.58G>TSubstitution - Missense
SSTENSG00000157005ENST00000287641p.N107Dc.319A>GSubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.R344Rc.1032G>ASubstitution - coding silent
FSTL5ENSG00000168843ENST00000306100p.I832Fc.2494A>TSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.?c.1600-4C>AUnknown
UBE2QL1ENSG00000215218ENST00000399816p.F110Ic.328T>ASubstitution - Missense
RXRBENSG00000204231ENST00000374680p.V219Fc.655G>TSubstitution - Missense
HLA-DMBENSG00000242574ENST00000418107p.L8Pc.23T>CSubstitution - Missense
ENST00000446948p.L8Pc.23T>CSubstitution - Missense
ENST00000309305p.H431Hc.1293C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R248Wc.742C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.P1817Pc.5451T>CSubstitution - coding silent
CREMENSG00000095794ENST00000395895p.*362Qc.1084T>CNonstop extension
ENST00000314657p.F153Sc.458T>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.R3385Lc.10154G>TSubstitution - Missense
ENST00000298047_v61p.R3385Lc.10154G>TSubstitution - Missense
DDX11ENSG00000013573ENST00000251758p.P111Lc.332C>TSubstitution - Missense
ZNF268ENSG00000090612ENST00000228289p.Q241Kc.721C>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.L614Rc.1841T>GSubstitution - Missense
PRAMEF7ENSG00000204510ENST00000330881p.L342Mc.1024C>ASubstitution - Missense
DENND2CENSG00000175984ENST00000393274p.S89Gc.265A>GSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.T1357Mc.4070C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.M5047Lc.15139A>CSubstitution - Missense
ESRRGENSG00000196482ENST00000391890p.S99Lc.296C>TSubstitution - Missense
EXO1ENSG00000174371ENST00000366548p.Q774Lc.2321A>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.A1021Ac.3063T>CSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399408p.G895Vc.2684G>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399410p.G885Vc.2654G>TSubstitution - Missense
ENSG00000262304ENST00000572705p.A162Ac.486C>ASubstitution - coding silent
TRPV1ENSG00000196689ENST00000399756p.A162Ac.486C>ASubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.P97Pc.291T>ASubstitution - coding silent
CLEC10AENSG00000132514ENST00000576617p.A89Ac.267A>CSubstitution - coding silent
ZNF407ENSG00000215421ENST00000577538p.?c.4803-9A>TUnknown
AP3D1ENSG00000065000ENST00000355272p.E179Kc.535G>ASubstitution - Missense
ZNF233ENSG00000159915ENST00000334152p.Y588Hc.1762T>CSubstitution - Missense
ZFP82ENSG00000181007ENST00000392171p.V283Vc.849G>ASubstitution - coding silent
MEI1ENSG00000167077ENST00000300398p.S848Sc.2544C>TSubstitution - coding silent
EFCAB6ENSG00000186976ENST00000262726p.R1441Hc.4322G>ASubstitution - Missense
SMARCC1ENSG00000173473ENST00000254480p.S339*c.1016C>ASubstitution - Nonsense
IP6K2ENSG00000068745ENST00000340879p.Q50*c.148C>TSubstitution - Nonsense
ZNF366ENSG00000178175ENST00000318442p.R475Rc.1425C>ASubstitution - coding silent
SV2CENSG00000122012ENST00000502798p.Y497Yc.1491C>TSubstitution - coding silent
ENSG00000228273ENST00000379458p.S47Ac.139T>GSubstitution - Missense
SBDSENSG00000126524ENST00000246868p.G183fs*4c.548delGDeletion - Frameshift
ZNF117ENSG00000152926ENST00000282869p.N147fs*7c.438_439insAInsertion - Frameshift
TTC39BENSG00000155158ENST00000512701p.T487Mc.1460C>TSubstitution - Missense
PLIN2ENSG00000147872ENST00000276914p.R93Kc.278G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000345016p.E179Kc.535G>ASubstitution - Missense
PLA2G4CENSG00000105499ENST00000413144p.?c.791-7T>GUnknown
C5AR2ENSG00000134830ENST00000257267p.P168Lc.503C>TSubstitution - Missense
TMEM219ENSG00000149932ENST00000279396p.?c.586-8C>TUnknown
SEZ6L2ENSG00000174938ENST00000350527p.G339Rc.1015G>ASubstitution - Missense
POTEFENSG00000196604ENST00000409914p.W786Gc.2356T>GSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.S641Sc.1923A>TSubstitution - coding silent
CCNT2ENSG00000082258ENST00000264157p.S641Sc.1923A>TSubstitution - coding silent
ACMSDENSG00000153086ENST00000356140p.R61fs*21c.181_182insAInsertion - Frameshift
DNAJC13ENSG00000138246ENST00000260818p.N2Hc.4A>CSubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.G1035Gc.3105C>ASubstitution - coding silent
RBP2ENSG00000114113ENST00000232217p.R128Cc.382C>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.E1163Dc.3489G>CSubstitution - Missense
DCHS2ENSG00000197410ENST00000443500p.D567Dc.1701C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.T1234Tc.3702G>ASubstitution - coding silent
CEP120ENSG00000168944ENST00000306467p.P415Lc.1244C>TSubstitution - Missense
MEF2CENSG00000081189ENST00000437473p.Y69Hc.205T>CSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.?c.4803-9A>TUnknown
ZNF407ENSG00000215421ENST00000582337p.E696Ec.2088A>GSubstitution - coding silent
ZNF407ENSG00000215421ENST00000299687p.E696Ec.2088A>GSubstitution - coding silent
GRIN3BENSG00000116032ENST00000234389p.D452Nc.1354G>ASubstitution - Missense
SALL3ENSG00000256463ENST00000537592p.D798Dc.2394C>TSubstitution - coding silent
PICK1ENSG00000100151ENST00000404072p.C413Cc.1239T>CSubstitution - coding silent
NR4A3ENSG00000119508ENST00000330847p.T39Tc.117G>ASubstitution - coding silent
RNF183ENSG00000165188ENST00000297894p.R111Hc.332G>ASubstitution - Missense
ORC3ENSG00000135336ENST00000257789p.H591Hc.1773T>CSubstitution - coding silent
CCL11ENSG00000172156ENST00000305869p.?c.189-4A>GUnknown
TAF15ENSG00000172660ENST00000311979p.R373Wc.1117A>TSubstitution - Missense
TMEM132EENSG00000181291ENST00000321639p.R166Cc.496C>TSubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.L309Vc.925C>GSubstitution - Missense
MTA3ENSG00000057935ENST00000405094p.D511Gc.1532A>GSubstitution - Missense
ENST00000356906p.S32Lc.95C>TSubstitution - Missense
ENST00000356906_v68p.S32Lc.95C>TSubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.L578Fc.1734A>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G717Cc.2149G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G717Cc.2149G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.G290Rc.868G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G290Rc.868G>ASubstitution - Missense
SRSF1ENSG00000136450ENST00000258962p.N121Tc.362A>CSubstitution - Missense
UPK1AENSG00000105668ENST00000222275p.I25fs*12c.71_72delATDeletion - Frameshift
ZNF568ENSG00000198453ENST00000455427p.L125Fc.375G>TSubstitution - Missense
ZFP82ENSG00000181007ENST00000392161p.V283Vc.849G>ASubstitution - coding silent
PCDHGA7ENSG00000253537ENST00000518325p.R198Wc.592C>TSubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.S355fs*5c.1063_1066delTCTCDeletion - Frameshift
NOTCH1ENSG00000148400ENST00000277541p.G785Gc.2355T>CSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.L430Lc.1290G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.R1188Gc.3562A>GSubstitution - Missense
CYP2A7ENSG00000198077ENST00000301146p.Y351*c.1053C>ASubstitution - Nonsense
B3GNT8ENSG00000177191ENST00000321702p.G185Ec.554G>ASubstitution - Missense
SFRP4ENSG00000106483ENST00000436072p.A79Dc.236C>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.G333Ac.998G>CSubstitution - Missense
MAGEA12ENSG00000213401ENST00000357916p.L79Pc.236T>CSubstitution - Missense
PCDHA9ENSG00000204961ENST00000532602p.Q65Rc.194A>GSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.S889Ic.2666G>TSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.R1212Mc.3635G>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.K1625Kc.4875G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.K1625Kc.4875G>ASubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.S203Cc.607A>TSubstitution - Missense
PON3ENSG00000105852ENST00000265627p.V345Ac.1034T>CSubstitution - Missense
ENST00000354677p.G606Vc.1817G>TSubstitution - Missense
ACAA2ENSG00000167315ENST00000285093p.V238Ic.712G>ASubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.G752Gc.2256G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000444484p.N172Nc.516C>TSubstitution - coding silent
DEFB121ENSG00000204548ENST00000376314p.T46Pc.136A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V29057Vc.87171T>CSubstitution - coding silent
ENST00000356127p.V29055Vc.87165T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.V22752Vc.68256T>CSubstitution - coding silent
NM_003319p.V22560Vc.67680T>CSubstitution - coding silent
ALS2ENSG00000003393ENST00000264276p.Q122Qc.366G>ASubstitution - coding silent
SLC5A6ENSG00000138074ENST00000310574p.H54Yc.160C>TSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.E329Ec.987G>ASubstitution - coding silent
ITGADENSG00000156886ENST00000389202p.H864Yc.2590C>TSubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.V283Vc.849C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.R1162Cc.3484C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.G2609delGc.7826_7828delGAGDeletion - In frame
IGHV1OR21-1ENSG00000169861ENST00000302092p.D118Dc.354C>TSubstitution - coding silent
CAPN14ENSG00000214711ENST00000403897p.?c.1493+1G>AUnknown
ENST00000322472p.R158Rc.474C>TSubstitution - coding silent
TRAPPC12ENSG00000171853ENST00000382110p.?c.1878-2A>TUnknown
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
NM_016323.1p.F632Fc.1896T>CSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.E869Ec.2607G>ASubstitution - coding silent
ENST00000318252p.E598Ec.1794G>ASubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.N1023Dc.3067A>GSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.R287Rc.859A>CSubstitution - coding silent
FUT5ENSG00000130383ENST00000252675p.V366Vc.1098G>ASubstitution - coding silent
CLEC10AENSG00000132514ENST00000254868p.A89Ac.267A>CSubstitution - coding silent
LLGL2ENSG00000073350ENST00000392550p.V843Lc.2527G>TSubstitution - Missense
GADL1ENSG00000144644ENST00000282538p.T402Tc.1206A>GSubstitution - coding silent
PDLIM5ENSG00000163110ENST00000380180p.A197Ac.591C>ASubstitution - coding silent
PDLIM5ENSG00000163110ENST00000318007p.A177Ac.531C>ASubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.V381Vc.1143G>TSubstitution - coding silent
SETD6ENSG00000103037ENST00000310682p.?c.27+5G>AUnknown
FAM65AENSG00000039523ENST00000379312p.T587Sc.1759A>TSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.T583Sc.1747A>TSubstitution - Missense
SLC7A6ENSG00000103064ENST00000219343p.Y163fs*51c.480_481insCInsertion - Frameshift
DYSFENSG00000135636ENST00000410020p.K1637*c.4909A>TSubstitution - Nonsense
GPR149ENSG00000174948ENST00000389740p.V66Vc.198T>CSubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.T107Pc.319A>CSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.G406Vc.1217G>TSubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.P437Pc.1311G>ASubstitution - coding silent
CDCA7LENSG00000164649ENST00000406877p.?c.922-8T>CUnknown
CHN2ENSG00000106069ENST00000222792p.T93Mc.278C>TSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356860p.N1030Kc.3090T>ASubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.Q570Kc.1708C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S1396Sc.4188T>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.S1396Sc.4188T>ASubstitution - coding silent
ANKZF1ENSG00000163516ENST00000323348p.Q638Ec.1912C>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.M2072Ic.6216G>ASubstitution - Missense
ENST00000373702p.M581Ic.1743G>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.Q69Kc.205C>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.D2296Dc.6888C>TSubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.P3115Pc.9345G>ASubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.I306Ic.918C>TSubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.I306Ic.918C>TSubstitution - coding silent
ACAD9ENSG00000177646ENST00000308982p.V111Ac.332T>CSubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.P847Sc.2539C>TSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.T561Mc.1682C>TSubstitution - Missense
H3F3CENSG00000188375ENST00000340398p.T30Pc.88A>CSubstitution - Missense
DDX11ENSG00000013573ENST00000407793p.P111Lc.332C>TSubstitution - Missense
PRMT8ENSG00000111218ENST00000452611p.D103Dc.309C>TSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.R812Hc.2435G>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.R3652Hc.10955G>ASubstitution - Missense
CCNB2ENSG00000157456ENST00000288207p.T75Ic.224C>TSubstitution - Missense
TRIM66ENSG00000166436ENST00000299550p.A275Sc.823G>TSubstitution - Missense
CCDC81ENSG00000149201ENST00000354755p.P18Sc.52C>TSubstitution - Missense
CREBZFENSG00000137504ENST00000490820p.E249*c.745G>TSubstitution - Nonsense
SCUBE2ENSG00000175356ENST00000309263p.R845Cc.2533C>TSubstitution - Missense
TRIM49CENSG00000204449ENST00000448984p.S327Gc.979A>GSubstitution - Missense
KNTC1ENSG00000184445ENST00000333479p.K1031Nc.3093A>TSubstitution - Missense
RANENSG00000132341ENST00000543796p.I87Nc.260T>ASubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.F173Fc.519C>TSubstitution - coding silent
OR14K1ENSG00000153230ENST00000283225p.V13Ec.38T>ASubstitution - Missense
RAVER2ENSG00000162437ENST00000371072p.N521Dc.1561A>GSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.?c.1854-4_1864>14Unknown
RIN3ENSG00000100599ENST00000216487p.F587Fc.1761C>TSubstitution - coding silent
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQQc.912_913ins21Insertion - In frame
SERPINA9ENSG00000170054ENST00000337425p.T390Nc.1169C>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.R2210Qc.6629G>ASubstitution - Missense
KBTBD13ENSG00000234438ENST00000432196p.T395Mc.1184C>TSubstitution - Missense
CILPENSG00000138615ENST00000261883p.R900Qc.2699G>ASubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.E1384Ac.4151A>CSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.I1434Vc.4300A>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.A4581Sc.13741G>TSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.S198Fc.593C>TSubstitution - Missense
ENST00000355290p.P251Sc.751C>TSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.P312Sc.934C>TSubstitution - Missense
CFDP1ENSG00000153774ENST00000283882p.?c.65-1G>AUnknown
SP6ENSG00000189120ENST00000342234p.A273Vc.818C>TSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.R603Rc.1809T>GSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.Q155Kc.463C>ASubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.H544Lc.1631A>TSubstitution - Missense
STAG2ENSG00000101972ENST00000371160p.H73Lc.218A>TSubstitution - Missense
DCAF12L1ENSG00000198889ENST00000371126p.I197Mc.591C>GSubstitution - Missense
BTKENSG00000010671ENST00000308731p.?c.895-6T>GUnknown
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
ZNF77ENSG00000175691ENST00000314531p.L507Lc.1521T>CSubstitution - coding silent
LILRA1ENSG00000104974ENST00000251372p.Y378*c.1134C>ASubstitution - Nonsense
ADNPENSG00000101126ENST00000349014p.L948Pc.2843T>CSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.A417Ac.1251G>ASubstitution - coding silent
ASB15ENSG00000146809ENST00000451558p.A353Ac.1059G>ASubstitution - coding silent
SLC13A1ENSG00000081800ENST00000194130p.A35Ec.104C>ASubstitution - Missense
FAM221BENSG00000204930ENST00000423537p.E308Kc.922G>ASubstitution - Missense
MFHAS1ENSG00000147324ENST00000276282p.A400Pc.1198G>CSubstitution - Missense
LEPROTL1ENSG00000104660ENST00000321250p.?c.17-4G>TUnknown
MTDHENSG00000147649ENST00000336273p.E35Ec.105G>ASubstitution - coding silent
TLK2ENSG00000146872ENST00000346027p.L239*c.716T>ASubstitution - Nonsense
TLK2ENSG00000146872ENST00000346027p.L239*c.716T>ASubstitution - Nonsense
CDRT15L2ENSG00000214819ENST00000399044p.Y226Sc.677A>CSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.P583Lc.1748C>TSubstitution - Missense
SPAG5ENSG00000076382ENST00000321765p.L980fs*48c.2938delCDeletion - Frameshift
NM_015461.1p.E583Ec.1749G>ASubstitution - coding silent
PTCD3ENSG00000132300ENST00000254630p.G402*c.1204G>TSubstitution - Nonsense
CNNM3ENSG00000168763ENST00000305510p.C311Cc.933C>TSubstitution - coding silent
UGT2B4ENSG00000156096ENST00000305107p.?c.1091-7A>CUnknown
TOP2AENSG00000131747ENST00000423485p.S1428Pc.4282T>CSubstitution - Missense
CASC3ENSG00000108349ENST00000264645p.L616Lc.1848G>ASubstitution - coding silent
NM_003895.2p.?c.1953-9G>TUnknown
TTC3ENSG00000182670ENST00000354749p.K1939Ec.5815A>GSubstitution - Missense
RPL9ENSG00000163682ENST00000295955p.S110Sc.330T>GSubstitution - coding silent
THBS2ENSG00000186340ENST00000366787p.F962Lc.2886C>ASubstitution - Missense
CREMENSG00000095794ENST00000395887p.*283Qc.847T>CNonstop extension
C10orf10ENSG00000165507ENST00000298295p.E114Kc.340G>ASubstitution - Missense
SKIENSG00000157933ENST00000378536p.P424Lc.1271C>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.P194Sc.580C>TSubstitution - Missense
IFIT1ENSG00000185745ENST00000371804p.R462Wc.1384C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.W1534Cc.4602G>TSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.L60fs*14c.174_178delTACTTDeletion - Frameshift
C11orf49ENSG00000149179ENST00000378618p.R308fs*>19c.919_920delGADeletion - Frameshift
ZNF408ENSG00000175213ENST00000311764p.T48Ic.143C>TSubstitution - Missense
NACAENSG00000196531ENST00000356769p.E73Ec.219A>GSubstitution - coding silent
NACAENSG00000196531ENST00000454682p.E1936Ec.5808A>GSubstitution - coding silent
LTBRENSG00000111321ENST00000228918p.G352Gc.1056C>TSubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.I1505Vc.4513A>GSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.V472Mc.1414G>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.V472Mc.1414G>ASubstitution - Missense
EFTUD1ENSG00000140598ENST00000268206p.L565Vc.1693C>GSubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.D1093Hc.3277G>CSubstitution - Missense
ENST00000510439_v68p.E160Kc.478G>ASubstitution - Missense
GOLGA6L4ENSG00000184206ENST00000510439p.E160Kc.478G>ASubstitution - Missense
RAB6AENSG00000175582ENST00000336083p.R60Rc.178C>ASubstitution - coding silent
RNF169ENSG00000166439ENST00000299563p.R365Hc.1094G>ASubstitution - Missense
ENST00000331572p.Y489Cc.1466A>GSubstitution - Missense
PPP1R13BENSG00000088808ENST00000202556p.R278Rc.834T>ASubstitution - coding silent
PRKD1ENSG00000184304ENST00000331968p.K268*c.802A>TSubstitution - Nonsense
ENST00000355911p.L110Fc.328C>TSubstitution - Missense
BEST1ENSG00000167995ENST00000378043p.G34Gc.102C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.V131Mc.391G>ASubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.G927Wc.2779G>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.?c.3456+4A>TUnknown
VDRENSG00000111424ENST00000535672p.S2Pc.4T>CSubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.V534Dc.1601T>ASubstitution - Missense
COLGALT2ENSG00000198756ENST00000361927p.Q149Pc.446A>CSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.L1054Vc.3160C>GSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.L1054Vc.3160C>GSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.P595Sc.1783C>TSubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.T272Mc.815C>TSubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.T272Mc.815C>TSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.L1398Lc.4192T>CSubstitution - coding silent
ATHL1ENSG00000142102ENST00000409548p.P464Pc.1392C>ASubstitution - coding silent
LGR4ENSG00000205213ENST00000379214p.L815Lc.2443C>TSubstitution - coding silent
EHFENSG00000135373ENST00000257831p.M9Vc.25A>GSubstitution - Missense
PDHXENSG00000110435ENST00000227868p.K460Nc.1380A>TSubstitution - Missense
GPSM2ENSG00000121957ENST00000406462p.L634Fc.1900C>TSubstitution - Missense
RGS13ENSG00000127074ENST00000391995p.L25Lc.73T>CSubstitution - coding silent
IFT140ENSG00000187535ENST00000426508p.Y978Cc.2933A>GSubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.F870Lc.2610C>ASubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.M693Tc.2078T>CSubstitution - Missense
VPS33BENSG00000184056ENST00000333371p.E214Ec.642G>ASubstitution - coding silent
ENST00000399147_v68p.P379Tc.1135C>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000323868p.Q211*c.631C>TSubstitution - Nonsense
C10orf71ENSG00000177354ENST00000374144p.Q211*c.631C>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000361849p.N1526Yc.4576A>TSubstitution - Missense
ENST00000417177p.N1533Yc.4597A>TSubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.V427Gc.1280T>GSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.L896Fc.2686C>TSubstitution - Missense
DPH2ENSG00000132768ENST00000255108p.C362Yc.1085G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.I1566Mc.4698T>GSubstitution - Missense
SDSENSG00000135094ENST00000257549p.V228Ac.683T>CSubstitution - Missense
SDSLENSG00000139410ENST00000345635p.T233Mc.698C>TSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.K1871Rc.5612A>GSubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.S89Gc.265A>GSubstitution - Missense
CGNENSG00000143375ENST00000271636p.R796Rc.2388G>ASubstitution - coding silent
CTAGE5ENSG00000150527ENST00000280083p.G555Ec.1664G>ASubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.A45Ac.135G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.Y646Nc.1936T>ASubstitution - Missense
ENST00000545858p.R155Wc.463C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
MEF2BENSG00000213999ENST00000424583p.D83Vc.248A>TSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.Y602Nc.1804T>ASubstitution - Missense
GPR153ENSG00000158292ENST00000377893p.R108Cc.322C>TSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.D123Nc.367G>ASubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.G174Gc.522C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.N172Nc.516C>TSubstitution - coding silent
MEF2CENSG00000081189ENST00000514028p.Y69Hc.205T>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P480fs*205c.1439delCDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.P480fs*450c.1439delCDeletion - Frameshift
MEF2BNB-MEF2BENSG00000064489ENST00000444486p.D83Vc.248A>TSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000361686p.S102Sc.306C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.T1357Mc.4070C>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.?c.3126-6G>TUnknown
SMARCA2ENSG00000080503ENST00000349721p.?c.3126-6G>TUnknown
SNAP25ENSG00000132639ENST00000304886p.R161Cc.481C>TSubstitution - Missense
PRSS55ENSG00000184647ENST00000328655p.N127Nc.381C>TSubstitution - coding silent
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
RIMS1ENSG00000079841ENST00000521978p.A102Ac.306G>ASubstitution - coding silent
GNA13ENSG00000120063ENST00000439174p.Q27Hc.81G>CSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.C222*c.666C>ASubstitution - Nonsense
C12orf10ENSG00000139637ENST00000267103p.V94Gc.281T>GSubstitution - Missense
RPP25ENSG00000178718ENST00000322177p.A136Ac.408C>TSubstitution - coding silent
FNDC3AENSG00000102531ENST00000492622p.R635Hc.1904G>ASubstitution - Missense
PIBF1ENSG00000083535ENST00000326291p.L495Mc.1483T>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.R2943Rc.8829C>TSubstitution - coding silent
SVILENSG00000197321ENST00000355867p.L67Vc.199C>GSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.S1204Sc.3612C>ASubstitution - coding silent
CREMENSG00000095794ENST00000361599p.*271Qc.811T>CNonstop extension


COSMIC

31 mutations reported
6 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
BCL2ENSG00000171791ENST00000398117p.N172Nc.516C>TSubstitution - coding silent21796119
AQRENSG00000021776ENST00000156471p.A1013Gc.3038C>GSubstitution - Missense21796119
KMT2DENSG00000167548ENST00000301067p.L4076Lc.12228G>TSubstitution - coding silent21796119
TP53ENSG00000141510ENST00000413465p.R248Wc.742C>TSubstitution - Missense21796119
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense21796119
MAST1ENSG00000105613ENST00000251472p.A74Tc.220G>ASubstitution - Missense21796119
MEF2CENSG00000081189ENST00000424173p.Y69Hc.205T>CSubstitution - Missense21796119
BCL2ENSG00000171791ENST00000398117p.L119Lc.355C>TSubstitution - coding silent21796119
BCL2ENSG00000171791ENST00000398117p.L119Lc.355C>TSubstitution - coding silent21796119
KMT2DENSG00000167548ENST00000301067p.Q2736*c.8206C>TSubstitution - Nonsense21796119
EP300ENSG00000100393ENST00000263253p.G1506Vc.4517G>TSubstitution - Missense21390126
SPTBN1ENSG00000115306ENST00000356805p.D1331Ec.3993C>ASubstitution - Missense21796119
DBN1ENSG00000113758ENST00000309007p.R226Qc.677G>ASubstitution - Missense21796119
KMT2DENSG00000167548ENST00000301067p.Q2466*c.7396C>TSubstitution - Nonsense21796119
MEF2BENSG00000213999ENST00000424583p.D83Vc.248A>TSubstitution - Missense21796119
BCL2ENSG00000171791ENST00000398117p.N172Nc.516C>TSubstitution - coding silent21796119
EZH2ENSG00000106462ENST00000350995p.Y602Nc.1804T>ASubstitution - Missense21796119
KMT2DENSG00000167548ENST00000301067p.L3806Lc.11418G>TSubstitution - coding silent21796119
MEF2BNB-MEF2BENSG00000064489ENST00000444486p.D83Vc.248A>TSubstitution - Missense21796119
EZH2ENSG00000106462ENST00000320356p.Y646Nc.1936T>ASubstitution - Missense21796119
MEF2CENSG00000081189ENST00000514028p.Y69Hc.205T>CSubstitution - Missense21796119
KMT2DENSG00000167548ENST00000301067p.P480fs*450c.1439delCDeletion - Frameshift21796119
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense21796119
MAST1ENSG00000105613ENST00000251472p.A74Tc.220G>ASubstitution - Missense21796119
KMT2DENSG00000167548ENST00000301067p.P480fs*205c.1439delCDeletion - Frameshift21796119
ENST00000545858p.R155Wc.463C>TSubstitution - Missense21796119
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense22493355
CDKN2AENSG00000147889ENST00000304494p.R58*c.172C>TSubstitution - Nonsense22493355
EZH2ENSG00000106462ENST00000320356p.Y646Nc.1936T>ASubstitution - Missense20081860
EZH2ENSG00000106462ENST00000320356p.Y646Nc.1936T>ASubstitution - Missense22323599
KMT2DENSG00000167548ENST00000301067p.R1526Wc.4576C>TSubstitution - Missense21804550