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Saos-2 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

673 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
RB1ENSG00000139687ENST00000267163p.?c.1814+2T>CUnknown
IRS4ENSG00000133124ENST00000372129p.P365Sc.1093C>TSubstitution - Missense
FAM218AENSG00000250486ENST00000513876p.T107Tc.321G>TSubstitution - coding silent
WHSC1ENSG00000109685ENST00000382891p.R501Hc.1502G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.T897Mc.2690C>TSubstitution - Missense
WHSC1ENSG00000109685ENST00000503128p.R501Hc.1502G>ASubstitution - Missense
TRNT1ENSG00000072756ENST00000251607p.K416Ec.1246A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.1814+2T>CUnknown
IFNAR2ENSG00000159110ENST00000404220p.A254Ac.762A>GSubstitution - coding silent
CER1ENSG00000147869ENST00000380911p.V179Lc.535G>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.V2520Ic.7558G>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.K1344Ec.4030A>GSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.K894Ec.2680A>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S215Cc.643A>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S1162Lc.3485C>TSubstitution - Missense
UBE3BENSG00000151148ENST00000434735p.P678Pc.2034G>ASubstitution - coding silent
NBPF3ENSG00000142794ENST00000318249p.L169Fc.507A>TSubstitution - Missense
POLR3AENSG00000148606ENST00000372371p.?c.3430-9A>CUnknown
SLC35G1ENSG00000176273ENST00000371408p.R357Hc.1070G>ASubstitution - Missense
IFIT1BENSG00000204010ENST00000371809p.A112Tc.334G>ASubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.G244Vc.731G>TSubstitution - Missense
SLC37A2ENSG00000134955ENST00000308074p.A434Vc.1301C>TSubstitution - Missense
VWA5AENSG00000110002ENST00000392748p.V465Lc.1393G>CSubstitution - Missense
OR8B2ENSG00000204293ENST00000375013p.F49Fc.147C>TSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000392657p.?c.1985-5A>TUnknown
ACCSLENSG00000205126ENST00000378832p.?c.1140-5T>CUnknown
TTC17ENSG00000052841ENST00000039989p.R357Gc.1069C>GSubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.Y482Sc.1445A>CSubstitution - Missense
SLC4A8ENSG00000050438ENST00000394856p.R23Qc.68G>ASubstitution - Missense
IL16ENSG00000172349ENST00000302987p.S624Fc.1871C>TSubstitution - Missense
KIF7ENSG00000166813ENST00000394412p.?c.3665-3C>TUnknown
ENST00000300053p.?c.2126-3C>TUnknown
DMBT1ENSG00000187908ENST00000368909p.S586Rc.1756A>CSubstitution - Missense
ENST00000368915p.S586Rc.1756A>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.S586Rc.1756A>CSubstitution - Missense
NARS2ENSG00000137513ENST00000281038p.I329Tc.986T>CSubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.?c.263-9C>TUnknown
ACIN1ENSG00000100813ENST00000262710p.T34Tc.102G>ASubstitution - coding silent
EML3ENSG00000149499ENST00000394773p.P74Lc.221C>TSubstitution - Missense
GANABENSG00000089597ENST00000346178p.D214Vc.641A>TSubstitution - Missense
GANABENSG00000089597ENST00000356638p.D192Vc.575A>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.I607Vc.1819A>GSubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.L225Vc.673C>GSubstitution - Missense
FLT3ENSG00000122025ENST00000241453p.T382Sc.1144A>TSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.H1939Hc.5817C>TSubstitution - coding silent
IGSF9ENSG00000085552ENST00000361509p.Q275Hc.825G>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.V1208Gc.3623T>GSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368016p.R852Wc.2554C>TSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
MDM2ENSG00000135679ENST00000462284p.S431Nc.1292G>ASubstitution - Missense
MDM2ENSG00000135679ENST00000462284p.S431Nc.1292G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.I1402Lc.4204A>CSubstitution - Missense
DRD2ENSG00000149295ENST00000362072p.T412Sc.1234A>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.S164Yc.491C>ASubstitution - Missense
TRPC6ENSG00000137672ENST00000344327p.N694Hc.2080A>CSubstitution - Missense
ZNF195ENSG00000005801ENST00000399602p.G378Gc.1134A>GSubstitution - coding silent
SRMENSG00000116649ENST00000376957p.G106Dc.317G>ASubstitution - Missense
NDE1ENSG00000072864ENST00000396354p.A101Vc.302C>TSubstitution - Missense
NM_015133.2p.S1197Fc.3590C>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.F2628Lc.7884C>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.F2628Lc.7884C>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.G900Ac.2699G>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.G1119Ac.3356G>CSubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.R1143Hc.3428G>ASubstitution - Missense
YRDCENSG00000196449ENST00000373044p.S231Ic.692G>TSubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.D384Dc.1152C>TSubstitution - coding silent
PRAMEF12ENSG00000116726ENST00000357726p.?c.863+8A>TUnknown
LINGO4ENSG00000213171ENST00000368820p.G459Gc.1377G>CSubstitution - coding silent
LRFN5ENSG00000165379ENST00000298119p.L542Pc.1625T>CSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.?c.51-3C>TUnknown
DDX11ENSG00000013573ENST00000407793p.?c.2053-3_2053-2ins12Unknown
DDX11ENSG00000013573ENST00000542838p.?c.2053-3_2053-2ins12Unknown
SYT10ENSG00000110975ENST00000228567p.P104Ac.310C>GSubstitution - Missense
CRTC2ENSG00000160741ENST00000368633p.S95Sc.285T>ASubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.E480Dc.1440A>CSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.L418Fc.1252C>TSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.C106Yc.317G>ASubstitution - Missense
NCMAPENSG00000184454ENST00000374392p.?c.168-8C>GUnknown
FGGYENSG00000172456ENST00000303721p.V254Vc.762C>TSubstitution - coding silent
MCOLN2ENSG00000153898ENST00000370608p.T145Ic.434C>TSubstitution - Missense
SH3GLB1ENSG00000097033ENST00000482504p.?c.73-5A>GUnknown
ODF2LENSG00000122417ENST00000370567p.A545fs*20c.1632_1633insTACAInsertion - Frameshift
MTHFD1ENSG00000100714ENST00000555709p.Y402Sc.1205A>CSubstitution - Missense
TTC8ENSG00000165533ENST00000380656p.R89Rc.267C>ASubstitution - coding silent
SERPINA5ENSG00000188488ENST00000553780p.L19Fc.55C>TSubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.?c.632-8T>AUnknown
HERC1ENSG00000103657ENST00000443617p.D76Ec.228C>GSubstitution - Missense
BCAR3ENSG00000137936ENST00000260502p.H198Yc.592C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.P1486Tc.4456C>ASubstitution - Missense
GAS6ENSG00000183087ENST00000357389p.R315Hc.944G>ASubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.A698Tc.2092G>ASubstitution - Missense
NUTM1ENSG00000184507ENST00000333756p.A147Pc.439G>CSubstitution - Missense
ENST00000248272p.?c.283-10A>CUnknown
MUC16ENSG00000181143ENST00000397910p.P6976Pc.20928C>ASubstitution - coding silent
ENST00000331986p.P2609Pc.7827C>ASubstitution - coding silent
ZNF699ENSG00000196110ENST00000308650p.Q179*c.535C>TSubstitution - Nonsense
SLC24A3ENSG00000185052ENST00000328041p.I126Vc.376A>GSubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.S179Lc.536C>TSubstitution - Missense
ENST00000429478p.E747Vc.2240A>TSubstitution - Missense
RHOXF2ENSG00000131721ENST00000371388p.L128fs*34c.375_376insGInsertion - Frameshift
MBD3L2ENSG00000230522ENST00000381393p.I175Nc.524T>ASubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.S528Sc.1584C>GSubstitution - coding silent
MZF1ENSG00000099326ENST00000215057p.P600Pc.1800C>TSubstitution - coding silent
NM_144967.2p.D283Gc.848A>GSubstitution - Missense
ARHGAP36ENSG00000147256ENST00000276211p.D283Gc.848A>GSubstitution - Missense
OR2Z1ENSG00000181733ENST00000324060p.P74fs*35c.218_225delGTCCCATGDeletion - Frameshift
ATG4AENSG00000101844ENST00000372232p.?c.547+1G>CUnknown
ATG4AENSG00000101844ENST00000372232p.?c.547+1G>CUnknown
SLC5A10ENSG00000154025ENST00000395647p.H257Rc.770A>GSubstitution - Missense
LGALS9CENSG00000171916ENST00000328114p.?c.39+10G>AUnknown
MYO15AENSG00000091536ENST00000205890p.K2843Rc.8528A>GSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.N581Sc.1742A>GSubstitution - Missense
DPY19L3ENSG00000178904ENST00000342179p.L514Lc.1542T>GSubstitution - coding silent
SCAF1ENSG00000126461ENST00000360565p.S1143Ic.3428G>TSubstitution - Missense
SLC6A16ENSG00000063127ENST00000335875p.N465Sc.1394A>GSubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.R874Qc.2621G>ASubstitution - Missense
LRP3ENSG00000130881ENST00000253193p.G366Gc.1098C>TSubstitution - coding silent
SLC7A10ENSG00000130876ENST00000253188p.?c.357-412_1264-63>CCUnknown
KLK7ENSG00000169035ENST00000304045p.V166Mc.496G>ASubstitution - Missense
VRK3ENSG00000105053ENST00000316763p.Q458Qc.1374G>ASubstitution - coding silent
SLA2ENSG00000101082ENST00000262866p.S42Rc.124A>CSubstitution - Missense
C20orf194ENSG00000088854ENST00000252032p.E762Kc.2284G>ASubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.R928Lc.2783G>TSubstitution - Missense
MCM8ENSG00000125885ENST00000265187p.R671Qc.2012G>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.G758Gc.2274G>ASubstitution - coding silent
FAM205AENSG00000205108ENST00000378788p.S1096Cc.3287C>GSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.S1096Cc.3287C>GSubstitution - Missense
ABHD17BENSG00000107362ENST00000333421p.K136Kc.408A>GSubstitution - coding silent
ARL6IP5ENSG00000144746ENST00000273258p.I71Ic.213C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.?c.6184+9G>AUnknown
FLNBENSG00000136068ENST00000295956p.?c.6091+9G>AUnknown
ENST00000318252p.A3013Ac.9039G>ASubstitution - coding silent
RGS9ENSG00000108370ENST00000262406p.?c.654+5G>AUnknown
TANC2ENSG00000170921ENST00000389520p.D1956Yc.5866G>TSubstitution - Missense
ENST00000389520_v65p.D1956Yc.5866G>TSubstitution - Missense
ENST00000436173p.G591Gc.1773C>TSubstitution - coding silent
PRDM15ENSG00000141956ENST00000269844p.S22Ic.65G>TSubstitution - Missense
KRTAP10-4ENSG00000215454ENST00000400374p.C110Gc.328T>GSubstitution - Missense
KRTAP10-1ENSG00000215455ENST00000400375p.A2Tc.4G>ASubstitution - Missense
GCENSG00000145321ENST00000273951p.?c.1396-8A>GUnknown
ZNF423ENSG00000102935ENST00000262383p.C755*c.2265C>ASubstitution - Nonsense
ZNF423ENSG00000102935ENST00000561648p.C755*c.2265C>ASubstitution - Nonsense
PPLENSG00000118898ENST00000345988p.A678Ac.2034G>ASubstitution - coding silent
C16orf78ENSG00000166152ENST00000299191p.P200Sc.598C>TSubstitution - Missense
KRTAP21-3ENSG00000231068ENST00000444335p.C30Yc.89G>ASubstitution - Missense
ENST00000400482p.V305Gc.914T>GSubstitution - Missense
GUF1ENSG00000151806ENST00000281543p.V287Ic.859G>ASubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.T893Tc.2679A>GSubstitution - coding silent
MST1ENSG00000173531ENST00000449682p.H90Dc.268C>GSubstitution - Missense
BTN1A1ENSG00000124557ENST00000244513p.S6Sc.18C>TSubstitution - coding silent
FAM65BENSG00000111913ENST00000259698p.E674Gc.2021A>GSubstitution - Missense
FAM133BENSG00000234545ENST00000445716p.A17Ac.51G>ASubstitution - coding silent
EPHB6ENSG00000106123ENST00000392957p.P243Pc.729A>TSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.W2139Cc.6417G>CSubstitution - Missense
ENST00000354677p.S809Nc.2426G>ASubstitution - Missense
SERPINB13ENSG00000197641ENST00000344731p.D241Hc.721G>CSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.K37Mc.110A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.V17429Ic.52285G>ASubstitution - Missense
ENST00000356127p.V23799Ic.71395G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.V17496Ic.52486G>ASubstitution - Missense
NM_003319p.V17304Ic.51910G>ASubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
KIF1AENSG00000130294ENST00000320389p.Y1516Yc.4548C>TSubstitution - coding silent
EMILIN1ENSG00000138080ENST00000380320p.S703Tc.2108G>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.I935Lc.2803A>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.V670Fc.2008G>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.V670Fc.2008G>TSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.?c.814+6C>TUnknown
ENST00000407030p.?c.461+1G>CUnknown
SU_caMLCKp.R745*c.2233C>TSubstitution - Nonsense
ENST00000338885p.Q112Hc.336G>TSubstitution - Missense
ENST00000405167p.A2766Tc.8296G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1627Ac.4879A>GSubstitution - Missense
ENST00000405167p.T1627Ac.4879A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2032Lc.6095C>TSubstitution - Missense
ENST00000405167p.P2032Lc.6095C>TSubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.Y1301Hc.3901T>CSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.T173Tc.519A>TSubstitution - coding silent
SSX5ENSG00000165583ENST00000311798p.S189Ac.565T>GSubstitution - Missense
SSX5ENSG00000165583ENST00000403001p.S88Ac.262T>GSubstitution - Missense
XM_098980.6p.W842Cc.2526G>TSubstitution - Missense
AKAP4ENSG00000147081ENST00000358526p.S547Sc.1641T>GSubstitution - coding silent
AKAP4ENSG00000147081ENST00000358526p.S547Cc.1640C>GSubstitution - Missense
AKAP4ENSG00000147081ENST00000358526p.S547Ac.1639T>GSubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.E46Kc.136G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.E33Kc.97G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.V55Vc.165G>CSubstitution - coding silent
ARSGENSG00000141337ENST00000448504p.G265Vc.794G>TSubstitution - Missense
ZNF154ENSG00000179909ENST00000512439p.E190*c.568G>TSubstitution - Nonsense
ZNF211ENSG00000121417ENST00000544273p.R420Qc.1259G>ASubstitution - Missense
ACADVLENSG00000072778ENST00000356839p.G314*c.940G>TSubstitution - Nonsense
NKTRENSG00000114857ENST00000232978p.L869Fc.2605C>TSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.E445Ec.1335G>ASubstitution - coding silent
TSNAXIP1ENSG00000102904ENST00000388833p.G523Gc.1569G>ASubstitution - coding silent
IGSF10ENSG00000152580ENST00000282466p.I2420Tc.7259T>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.L4289Fc.12867G>TSubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.A682Dc.2045C>ASubstitution - Missense
TRIM41ENSG00000146063ENST00000315073p.F195Fc.585C>TSubstitution - coding silent
TRIM41ENSG00000146063ENST00000351937p.F195Fc.585C>TSubstitution - coding silent
FLT4ENSG00000037280ENST00000393347p.L159Vc.475C>GSubstitution - Missense
RAET1EENSG00000164520ENST00000357183p.E123Qc.367G>CSubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.R116Rc.348A>GSubstitution - coding silent
GPNMBENSG00000136235ENST00000381990p.L4Fc.10C>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.S3780Tc.11339G>CSubstitution - Missense
WIPF3ENSG00000122574ENST00000409290p.P351Pc.1053T>ASubstitution - coding silent
WIPF3ENSG00000122574ENST00000409123p.P351Pc.1053T>ASubstitution - coding silent
CD36ENSG00000135218ENST00000447544p.?c.1254+8T>GUnknown
F8ENSG00000185010ENST00000360256p.P1143Pc.3429C>GSubstitution - coding silent
SU_SK681p.P1042Pc.3126G>ASubstitution - coding silent
NM_001001671.1p.P470Pc.1410G>ASubstitution - coding silent
BMXENSG00000102010ENST00000357607p.S187Pc.559T>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.P1143Pc.3429C>GSubstitution - coding silent
SNTG2ENSG00000172554ENST00000308624p.?c.369+3C>GUnknown
GLI2ENSG00000074047ENST00000361492p.S1090Tc.3269G>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.R352Qc.1055G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.R480Qc.1439G>ASubstitution - Missense
KALRNENSG00000160145ENST00000240874p.A415Vc.1244C>TSubstitution - Missense
DIRC2ENSG00000138463ENST00000261038p.T171Ac.511A>GSubstitution - Missense
TTLL8ENSG00000138892ENST00000433387p.?c.298+5C>TUnknown
FBLN1ENSG00000077942ENST00000262722p.I263Vc.787A>GSubstitution - Missense
FBLN1ENSG00000077942ENST00000442170p.I263Vc.787A>GSubstitution - Missense
A4GALTENSG00000128274ENST00000249005p.R325Wc.973C>TSubstitution - Missense
FKBP5ENSG00000096060ENST00000542713p.D68Vc.203A>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.S3142*c.9425C>ASubstitution - Nonsense
ENSG00000228273ENST00000379458p.T301Pc.901A>CSubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.I134Ic.402A>TSubstitution - coding silent
POM121ENSG00000196313ENST00000257622p.G688Rc.2062G>CSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.G688Rc.2062G>CSubstitution - Missense
ZMYM3ENSG00000147130ENST00000314425p.P1009Hc.3026C>ASubstitution - Missense
PDE4CENSG00000105650ENST00000355502p.?c.709-5C>TUnknown
SYMPKENSG00000125755ENST00000245934p.L600Lc.1800G>ASubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.A439Tc.1315G>ASubstitution - Missense
FBXO40ENSG00000163833ENST00000338040p.E167Ec.501G>ASubstitution - coding silent
BOCENSG00000144857ENST00000355385p.S409Fc.1226C>TSubstitution - Missense
CASRENSG00000036828ENST00000296154p.E191Ec.573G>ASubstitution - coding silent
DCHS2ENSG00000197410ENST00000357232p.Q1484Hc.4452G>TSubstitution - Missense
PRMT10ENSG00000164169ENST00000322396p.A12Dc.35C>ASubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.Q688Rc.2063A>GSubstitution - Missense
C4orf47ENSG00000205129ENST00000378850p.?c.101-1G>TUnknown
PRIMPOLENSG00000164306ENST00000314970p.L539Lc.1617T>GSubstitution - coding silent
SEL1L3ENSG00000091490ENST00000399878p.H399Qc.1197C>ASubstitution - Missense
SEL1L3ENSG00000091490ENST00000399878p.H552Qc.1656C>ASubstitution - Missense
WHSC1ENSG00000109685ENST00000503128p.N640Kc.1920C>ASubstitution - Missense
ISOC1ENSG00000066583ENST00000173527p.L104Lc.312C>GSubstitution - coding silent
SHROOM2ENSG00000146950ENST00000380913p.A858Ac.2574G>ASubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.A358Tc.1072G>ASubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.A300Vc.899C>TSubstitution - Missense
ERVFRD-1ENSG00000244476ENST00000472091p.R208Qc.623G>ASubstitution - Missense
ZNF451ENSG00000112200ENST00000370706p.E778Gc.2333A>GSubstitution - Missense
ZNF451ENSG00000112200ENST00000357489p.E778Gc.2333A>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.?c.13995+6A>TUnknown
DSTENSG00000151914ENST00000370769p.?c.21237+6A>TUnknown
SLC35G5ENSG00000177710ENST00000382435p.G192Gc.576C>ASubstitution - coding silent
DSPENSG00000096696ENST00000379802p.Q58*c.172C>TSubstitution - Nonsense
CSMD3ENSG00000164796ENST00000297405p.A1895Tc.5683G>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.L962Lc.2886C>GSubstitution - coding silent
CRLF3ENSG00000176390ENST00000324238p.Y343Cc.1028A>GSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.R785Qc.2354G>ASubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.R785Qc.2354G>ASubstitution - Missense
NFKBIDENSG00000167604ENST00000396901p.S26Sc.78G>ASubstitution - coding silent
NFKBIDENSG00000167604ENST00000352614p.S178Sc.534G>ASubstitution - coding silent
IGFLR1ENSG00000126246ENST00000246532p.D195Dc.585C>TSubstitution - coding silent
CACTINENSG00000105298ENST00000221899p.P720Lc.2159C>TSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.K399Ec.1195A>GSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.L406Vc.1216C>GSubstitution - Missense
SLC7A14ENSG00000013293ENST00000231706p.W655Cc.1965G>TSubstitution - Missense
SOHLH1ENSG00000165643ENST00000425225p.W314Lc.941G>TSubstitution - Missense
C9orf170ENSG00000204446ENST00000375941p.R61Qc.182G>ASubstitution - Missense
DLL3ENSG00000090932ENST00000205143p.P251fs*30c.751_752insGGACInsertion - Frameshift
PDE1CENSG00000154678ENST00000396193p.E655Ec.1965G>ASubstitution - coding silent
PDE1CENSG00000154678ENST00000396191p.E595Ec.1785G>ASubstitution - coding silent
PDE1CENSG00000154678ENST00000396184p.E595Ec.1785G>ASubstitution - coding silent
CYP2A6ENSG00000255974ENST00000301141p.K379Rc.1136A>GSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.L337Vc.1009C>GSubstitution - Missense
BRS3ENSG00000102239ENST00000370648p.S15Tc.43T>ASubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.D52Ac.155A>CSubstitution - Missense
OTTHUMT00000129563.1p.R293Rc.877C>ASubstitution - coding silent
PLXNB3ENSG00000198753ENST00000538966p.L1544Mc.4630C>ASubstitution - Missense
GABREENSG00000102287ENST00000370328p.S105Rc.315C>GSubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.E94Ec.282G>ASubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R359Gc.1075A>GSubstitution - Missense
ENST00000539307p.L156Fc.466C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.L119Fc.355C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
ENST00000257721p.A143Tc.427G>ASubstitution - Missense
ASB10ENSG00000146926ENST00000377867p.A231Ac.693C>TSubstitution - coding silent
ASB10ENSG00000146926ENST00000422024p.A291Ac.873C>TSubstitution - coding silent
GJC3ENSG00000176402ENST00000312891p.L25Fc.73C>TSubstitution - Missense
GJC3ENSG00000176402ENST00000312891p.L24Lc.70T>CSubstitution - coding silent
OR7A5ENSG00000188269ENST00000322301p.Y60Cc.179A>GSubstitution - Missense
PSG3ENSG00000221826ENST00000327495p.?c.989-6C>AUnknown
GSK3AENSG00000105723ENST00000222330p.T201Kc.602C>ASubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.D115Hc.343G>CSubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.P156Sc.466C>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NOSTRINENSG00000163072ENST00000317647p.L366Vc.1096C>GSubstitution - Missense
TGENSG00000042832ENST00000220616p.D1635Ec.4905C>ASubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.I662Ic.1986C>TSubstitution - coding silent
RALGPS1ENSG00000136828ENST00000259351p.E172Gc.515A>GSubstitution - Missense
RALGPS1ENSG00000136828ENST00000373434p.E172Gc.515A>GSubstitution - Missense
NM_003829.1p.P286Lc.857C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.T2134Ic.6401C>TSubstitution - Missense
N4BP3ENSG00000145911ENST00000274605p.P156Tc.466C>ASubstitution - Missense
NEU1ENSG00000204386ENST00000375631p.N129Sc.386A>GSubstitution - Missense
MSH5ENSG00000204410ENST00000375742p.C717Fc.2150G>TSubstitution - Missense
ENST00000491552p.C86Fc.257G>TSubstitution - Missense
IP6K3ENSG00000161896ENST00000451316p.N398Nc.1194C>TSubstitution - coding silent
HLA-DQB2ENSG00000232629ENST00000411527p.S206Gc.616A>GSubstitution - Missense
GPR110ENSG00000153292ENST00000371243p.?c.552+5G>AUnknown
RUNX2ENSG00000124813ENST00000465038p.?c.1021+6G>TUnknown
C6orf223ENSG00000181577ENST00000336600p.A132_G133insAc.397_398insCGGInsertion - In frame
MRPL14ENSG00000180992ENST00000372014p.P94Pc.282C>TSubstitution - coding silent
CRISP3ENSG00000096006ENST00000263045p.K88Nc.264G>TSubstitution - Missense
AKR7A3ENSG00000162482ENST00000361640p.R106*c.316C>TSubstitution - Nonsense
TACC2ENSG00000138162ENST00000369005p.L2261Pc.6782T>CSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.L2265Pc.6794T>CSubstitution - Missense
SLIT1ENSG00000187122ENST00000371041p.G244Vc.731G>TSubstitution - Missense
TTC17ENSG00000052841ENST00000299240p.R357Gc.1069C>GSubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.H157Pc.470A>CSubstitution - Missense
OR51B6ENSG00000176239ENST00000380219p.P282Sc.844C>TSubstitution - Missense
EML3ENSG00000149499ENST00000529309p.P74Lc.221C>TSubstitution - Missense
DCP1BENSG00000151065ENST00000280665p.K117Ec.349A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.A698Tc.2092G>ASubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.A210Tc.628G>ASubstitution - Missense
IGSF9ENSG00000085552ENST00000368094p.Q275Hc.825G>TSubstitution - Missense
PRDM2ENSG00000116731ENST00000376048p.C106Yc.317G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366942p.S215Cc.643A>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S215Cc.643A>TSubstitution - Missense
TTC8ENSG00000165533ENST00000338104p.R79Rc.237C>ASubstitution - coding silent
PIF1ENSG00000140451ENST00000333425p.R439Wc.1315C>TSubstitution - Missense
MYO5AENSG00000197535ENST00000358212p.E480Dc.1440A>CSubstitution - Missense
NDE1ENSG00000072864ENST00000396353p.A101Vc.302C>TSubstitution - Missense
HOXB8ENSG00000120068ENST00000239144p.R173Lc.518G>TSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.G625Vc.1874G>TSubstitution - Missense
MFSD12ENSG00000161091ENST00000355415p.?c.1289+10G>CUnknown
ENST00000496398_v68p.P258Pc.774T>ASubstitution - coding silent
VAV1ENSG00000141968ENST00000602142p.S528Sc.1584C>GSubstitution - coding silent
ITSN1ENSG00000205726ENST00000399338p.T892Mc.2675C>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.T897Mc.2690C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.Y1617Yc.4851C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.R346Qc.1037G>ASubstitution - Missense
ODF2LENSG00000122417ENST00000294678p.A558fs*20c.1671_1672insTACAInsertion - Frameshift
TENM2ENSG00000145934ENST00000545108p.T2254Ic.6761C>TSubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000435145p.S206Gc.616A>GSubstitution - Missense
FAM65BENSG00000111913ENST00000538035p.E653Gc.1958A>GSubstitution - Missense
CRISP3ENSG00000096006ENST00000433368p.K111Nc.333G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A4122Vc.12365C>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000341462p.T174Tc.522A>TSubstitution - coding silent
ABHD17BENSG00000107362ENST00000377041p.K136Kc.408A>GSubstitution - coding silent
MAP3K15ENSG00000180815ENST00000338883p.P995Pc.2985G>ASubstitution - coding silent
SLC37A2ENSG00000134955ENST00000403796p.A434Vc.1301C>TSubstitution - Missense
CCDC88BENSG00000168071ENST00000359902p.R295Hc.884G>ASubstitution - Missense
FAM129AENSG00000135842ENST00000367511p.?c.187-7C>GUnknown
NOMO1ENSG00000103512ENST00000287667p.S701Ac.2101T>GSubstitution - Missense
SERPINA12ENSG00000165953ENST00000556881p.S80Sc.240T>CSubstitution - coding silent
XM_170754.4p.D571Gc.1712A>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.?c.51-3C>TUnknown
PIH1D3ENSG00000080572ENST00000372453p.Y49Nc.145T>ASubstitution - Missense
LRRC40ENSG00000066557ENST00000370952p.A214Ac.642A>TSubstitution - coding silent
PRKACBENSG00000142875ENST00000394838p.?c.568-10T>CUnknown
CD37ENSG00000104894ENST00000323906p.F16Fc.48C>TSubstitution - coding silent
ADAMTS1ENSG00000154734ENST00000284984p.A899Gc.2696C>GSubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.T165Tc.495A>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.A682Dc.2045C>ASubstitution - Missense
MLH1ENSG00000076242ENST00000231790p.V201Ac.602T>CSubstitution - Missense
PIK3R2ENSG00000105647ENST00000222254p.?c.1560-3C>TUnknown
CYP2S1ENSG00000167600ENST00000310054p.L299Fc.897G>TSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R359Gc.1075A>GSubstitution - Missense
PDPRENSG00000090857ENST00000288050p.R848Sc.2542C>ASubstitution - Missense
RABAC1ENSG00000105404ENST00000222008p.R56Wc.166C>TSubstitution - Missense
FBXO32ENSG00000156804ENST00000517956p.K268Ic.803A>TSubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.C701Fc.2102G>TSubstitution - Missense
RUNX2ENSG00000124813ENST00000352853p.?c.1225+6G>TUnknown
SLC22A8ENSG00000149452ENST00000336232p.F40Fc.120C>TSubstitution - coding silent
MCM8ENSG00000125885ENST00000378886p.R727Qc.2180G>ASubstitution - Missense
MAML2ENSG00000184384ENST00000524717p.A548Dc.1643C>ASubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.V90Lc.268G>TSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.R1063Wc.3187C>TSubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.S1191Fc.3572C>TSubstitution - Missense
MAMDC2ENSG00000165072ENST00000377182p.W190Cc.570G>CSubstitution - Missense
TRMT10BENSG00000165275ENST00000297994p.*317Lc.950G>TNonstop extension
ENST00000339538p.G175Ac.524G>CSubstitution - Missense
CNGA3ENSG00000144191ENST00000272602p.V88Lc.262G>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.I935Lc.2803A>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.S1315Cc.3944C>GSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.K621Kc.1863G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.A1855Tc.5563G>ASubstitution - Missense
CGAENSG00000135346ENST00000369582p.H20Hc.60T>CSubstitution - coding silent
CACTINENSG00000105298ENST00000221899p.P720Sc.2158C>TSubstitution - Missense
ENST00000537425_v68p.G92Rc.274G>ASubstitution - Missense
FGF12ENSG00000114279ENST00000445105p.D40Nc.118G>ASubstitution - Missense
ENST00000328843_v70p.S3780Tc.11339G>CSubstitution - Missense
NEDD8ENSG00000129559ENST00000250495p.E12Gc.35A>GSubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.R103Qc.308G>ASubstitution - Missense
LRRC52ENSG00000162763ENST00000294818p.G23Ec.68G>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.A789Dc.2366C>ASubstitution - Missense
SU_QSKp.R1034Wc.3100C>TSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.L418Fc.1252C>TSubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.S786Sc.2358C>TSubstitution - coding silent
GRTP1ENSG00000139835ENST00000375431p.K308Nc.924A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T4006Ac.12016A>GSubstitution - Missense
MYLK3ENSG00000140795ENST00000394809p.R666*c.1996C>TSubstitution - Nonsense
NHLRC4ENSG00000257108ENST00000424439p.S56Fc.167C>TSubstitution - Missense
MURCENSG00000170681ENST00000307584p.R323Sc.969G>TSubstitution - Missense
TTC29ENSG00000137473ENST00000325106p.A97Tc.289G>ASubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
ENST00000388903p.T2088Ic.6263C>TSubstitution - Missense
MSTO1ENSG00000125459ENST00000452804p.A252Vc.755C>TSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.?c.6091+9G>AUnknown
ENST00000590278p.G240Gc.720C>TSubstitution - coding silent
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
PIF1ENSG00000140451ENST00000268043p.R439Wc.1315C>TSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.L1411Rc.4232T>GSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.L1622Hc.4865T>ASubstitution - Missense
CYP7A1ENSG00000167910ENST00000301645p.S482Sc.1446C>TSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.H637Yc.1909C>TSubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.I74Sc.221T>GSubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.Q242Qc.726A>GSubstitution - coding silent
METTL24ENSG00000053328ENST00000338882p.Q221*c.661C>TSubstitution - Nonsense
DPP4ENSG00000197635ENST00000360534p.S242Cc.725C>GSubstitution - Missense
FGF12ENSG00000114279ENST00000454309p.D102Nc.304G>ASubstitution - Missense
DCP1BENSG00000151065ENST00000397173p.K15Ec.43A>GSubstitution - Missense
NBPF3ENSG00000142794ENST00000342104p.L169Fc.507A>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.S1162Lc.3485C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S1162Lc.3485C>TSubstitution - Missense
SLC10A2ENSG00000125255ENST00000245312p.E282Ec.846G>ASubstitution - coding silent
TUBGCP4ENSG00000137822ENST00000564079p.P115Tc.343C>ASubstitution - Missense
CFHR3ENSG00000116785ENST00000367425p.G188Gc.564A>GSubstitution - coding silent
ASH1LENSG00000116539ENST00000392403p.R715Ic.2144G>TSubstitution - Missense
LIPCENSG00000166035ENST00000299022p.G61Gc.183C>ASubstitution - coding silent
ENST00000318252p.C3004Cc.9012C>TSubstitution - coding silent
GPR62ENSG00000180929ENST00000322241p.G311Rc.931G>ASubstitution - Missense
ENST00000400482p.V305Vc.915G>TSubstitution - coding silent
UBASH3AENSG00000160185ENST00000319294p.A149Pc.445G>CSubstitution - Missense
MUC20ENSG00000176945ENST00000447234p.S553Pc.1657T>CSubstitution - Missense
ZNF211ENSG00000121417ENST00000240731p.R421Qc.1262G>ASubstitution - Missense
CD36ENSG00000135218ENST00000435819p.?c.1254+8T>GUnknown
SLC26A5ENSG00000170615ENST00000339444p.I134Ic.402A>TSubstitution - coding silent
SERPINB3ENSG00000057149ENST00000283752p.T359Nc.1076C>ASubstitution - Missense
C9orf171ENSG00000188523ENST00000343036p.Y253*c.759T>GSubstitution - Nonsense
DDX39AENSG00000123136ENST00000242776p.L10Lc.30T>GSubstitution - coding silent
FBLN1ENSG00000077942ENST00000348697p.I263Vc.787A>GSubstitution - Missense
IFNAR2ENSG00000159110ENST00000382241p.A254Ac.762A>GSubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.R1440Qc.4319G>ASubstitution - Missense
ZNF33BENSG00000196693ENST00000359467p.F506Cc.1517T>GSubstitution - Missense
GDF3ENSG00000184344ENST00000329913p.G277Vc.830G>TSubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.L484Lc.1452C>TSubstitution - coding silent
CARS2ENSG00000134905ENST00000257347p.E480Qc.1438G>CSubstitution - Missense
FNBP1LENSG00000137942ENST00000260506p.I241Fc.721A>TSubstitution - Missense
ENST00000409172p.V247Mc.739G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P6976Pc.20928C>ASubstitution - coding silent
XPNPEP2ENSG00000122121ENST00000371106p.?c.1831-4G>AUnknown
SMCHD1ENSG00000101596ENST00000261598p.S763Sc.2289G>TSubstitution - coding silent
SEBOX,VTNENSG00000109072ENST00000226218p.R212Lc.635G>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.?c.2274+5_2274+8delttaaUnknown
BMXENSG00000102010ENST00000357607p.Q439Kc.1315C>ASubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.L159Vc.475C>GSubstitution - Missense
REXO1ENSG00000079313ENST00000170168p.T318Tc.954C>TSubstitution - coding silent
CNTNAP1ENSG00000108797ENST00000264638p.C985fs*44c.2953delTDeletion - Frameshift
PLXNB3ENSG00000198753ENST00000361971p.L1521Mc.4561C>ASubstitution - Missense
MED7ENSG00000155868ENST00000286317p.R144Hc.431G>ASubstitution - Missense
TESENSG00000135269ENST00000358204p.A143Tc.427G>ASubstitution - Missense
PCSK4ENSG00000115257ENST00000300954p.V476Ic.1426G>ASubstitution - Missense
ENSG00000167970ENST00000454671p.L23Pc.68T>CSubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.?c.473-9C>TUnknown
TPH1ENSG00000129167ENST00000250018p.H157Pc.470A>CSubstitution - Missense
PSMA6ENSG00000100902ENST00000261479p.K55Nc.165A>TSubstitution - Missense
SKP2ENSG00000145604ENST00000274254p.K43Nc.129A>TSubstitution - Missense
PPEF2ENSG00000156194ENST00000286719p.W446fs*3c.1334_1335insGInsertion - Frameshift
ANKRD11ENSG00000167522ENST00000301030p.L187fs*17c.560_579del20Deletion - Frameshift
ABCA5ENSG00000154265ENST00000392676p.P1555Sc.4663C>TSubstitution - Missense
LPAR2ENSG00000064547ENST00000407877p.N60Sc.179A>GSubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.A439Tc.1315G>ASubstitution - Missense
CEACAM4ENSG00000105352ENST00000221954p.?c.628-9C>GUnknown
MTHFD1ENSG00000100714ENST00000216605p.Y458Sc.1373A>CSubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.P1127Rc.3380C>GSubstitution - Missense
SLC5A10ENSG00000154025ENST00000317977p.H174Rc.521A>GSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.R1754Qc.5261G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.Q1361Lc.4082A>TSubstitution - Missense
NM_003069.2p.A352Gc.1055C>GSubstitution - Missense
FAM133BENSG00000234545ENST00000445716p.A17Ac.51G>ASubstitution - coding silent
ABCA6ENSG00000154262ENST00000284425p.L1544Ic.4630T>ASubstitution - Missense
ZNF837ENSG00000152475ENST00000427624p.R528Cc.1582C>TSubstitution - Missense
MANBAENSG00000109323ENST00000226578p.R550Qc.1649G>ASubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.W422Cc.1266G>CSubstitution - Missense
GPR110ENSG00000153292ENST00000371253p.?c.552+5G>AUnknown
UBE3BENSG00000151148ENST00000280774p.P678Pc.2034G>ASubstitution - coding silent
BCAR3ENSG00000137936ENST00000370247p.H107Yc.319C>TSubstitution - Missense
NEURL4ENSG00000215041ENST00000399464p.P1129Rc.3386C>GSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.S1187Wc.3560C>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.Q1088Lc.3263A>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.I607Vc.1819A>GSubstitution - Missense
SLC37A4ENSG00000137700ENST00000330775p.R285Qc.854G>ASubstitution - Missense
HAO2ENSG00000116882ENST00000325945p.Q239*c.715C>TSubstitution - Nonsense
NEBLENSG00000078114ENST00000377122p.L177Pc.530T>CSubstitution - Missense
SKP2ENSG00000145604ENST00000274255p.K43Nc.129A>TSubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.S179Lc.536C>TSubstitution - Missense
PRKACBENSG00000142875ENST00000370688p.?c.547-10T>CUnknown
FNBP1LENSG00000137942ENST00000271234p.I241Fc.721A>TSubstitution - Missense
TAS2R3ENSG00000127362ENST00000247879p.V8Lc.22G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V23801Ic.71401G>ASubstitution - Missense
STX8ENSG00000170310ENST00000306357p.D138Hc.412G>CSubstitution - Missense
PEX7ENSG00000112357ENST00000318471p.L214Qc.641T>ASubstitution - Missense
OTOP3ENSG00000182938ENST00000328801p.E55Kc.163G>ASubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.K144Kc.432G>ASubstitution - coding silent
USP37ENSG00000135913ENST00000258399p.Y322Fc.965A>TSubstitution - Missense
FTMTENSG00000181867ENST00000321339p.L16Lc.46C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.?c.21237+5_21237+6insTAAAUnknown
TTLL8ENSG00000138892ENST00000440475p.?c.190+5C>TUnknown
ITPR3ENSG00000096433ENST00000374316p.R1295Hc.3884G>ASubstitution - Missense
DRD2ENSG00000149295ENST00000355319p.T414Sc.1240A>TSubstitution - Missense
DDX39AENSG00000123136ENST00000454233p.L10Lc.30T>GSubstitution - coding silent
MPDZENSG00000107186ENST00000319217p.P286Lc.857C>TSubstitution - Missense
KDRENSG00000128052ENST00000263923p.G671Ec.2012G>ASubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.C128Cc.384C>TSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.H1939Hc.5817C>TSubstitution - coding silent
CELSR2ENSG00000143126ENST00000271332p.T2063Tc.6189G>ASubstitution - coding silent
ZNF195ENSG00000005801ENST00000354599p.G306Gc.918A>GSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.G2505Ac.7514G>CSubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.G1631Dc.4892G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.?c.1_93del1141Unknown
ENST00000315089p.V142Vc.426C>TSubstitution - coding silent
RPTORENSG00000141564ENST00000306801p.H1177Hc.3531C>TSubstitution - coding silent
DLL1ENSG00000198719ENST00000366756p.?c.2167-4C>TUnknown
BACH1ENSG00000156273ENST00000399921p.R46Hc.137G>ASubstitution - Missense
EVX2ENSG00000174279ENST00000308618p.E204*c.610G>TSubstitution - Nonsense
EPM2AIP1ENSG00000178567ENST00000322716p.E535Ec.1605A>GSubstitution - coding silent
ZNF43ENSG00000198521ENST00000354959p.Y454Hc.1360T>CSubstitution - Missense
TTLL8ENSG00000138892ENST00000266182p.?c.190+5C>TUnknown
FYCO1ENSG00000163820ENST00000296137p.R447Hc.1340G>ASubstitution - Missense
ENSG00000196987ENST00000357566p.A124Ec.371C>ASubstitution - Missense
MPDZENSG00000107186ENST00000541718p.P286Lc.857C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.T2255Ic.6764C>TSubstitution - Missense
RPSAP58ENSG00000205246ENST00000496398p.P258Pc.774T>ASubstitution - coding silent
ADIGENSG00000182035ENST00000537425p.G92Rc.274G>ASubstitution - Missense
TTC29ENSG00000137473ENST00000513335p.A123Tc.367G>ASubstitution - Missense
DCP1BENSG00000151065ENST00000397173p.D14_K15>Ec.42_44delTAAComplex - deletion inframe
POM121ENSG00000196313ENST00000434423p.G953Rc.2857G>CSubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.D702Hc.2104G>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.C3275Cc.9825C>TSubstitution - coding silent
CNGA1ENSG00000198515ENST00000358519p.T443Ac.1327A>GSubstitution - Missense
GCENSG00000145321ENST00000504199p.?c.1453-8A>GUnknown
GATSL3ENSG00000239282ENST00000407689p.H168Rc.503A>GSubstitution - Missense
MEFVENSG00000103313ENST00000219596p.E251Qc.751G>CSubstitution - Missense
PLSCR1ENSG00000188313ENST00000342435p.N65Kc.195T>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.P170Sc.508C>TSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.E94Kc.280G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000425967p.T84Tc.252A>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.A3979Vc.11936C>TSubstitution - Missense
PTPRNENSG00000054356ENST00000295718p.T531Ac.1591A>GSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.A341Tc.1021G>ASubstitution - Missense
MAP4K3ENSG00000011566ENST00000263881p.N372Kc.1116T>ASubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.K645Kc.1935G>ASubstitution - coding silent
ASB10ENSG00000146926ENST00000275838p.A246Ac.738C>TSubstitution - coding silent
ENST00000319957p.R76Qc.227G>ASubstitution - Missense
ENST00000264546_v70p.A45Ac.135C>TSubstitution - coding silent
TAOK3ENSG00000135090ENST00000419821p.D384Dc.1152C>TSubstitution - coding silent
LRRC8BENSG00000197147ENST00000330947p.Y688*c.2064T>GSubstitution - Nonsense
HERC1ENSG00000103657ENST00000443617p.D76Ec.228C>GSubstitution - Missense
NOSIPENSG00000142546ENST00000391853p.V209Vc.627G>ASubstitution - coding silent
H2BFWTENSG00000123569ENST00000217926p.R77Rc.231C>TSubstitution - coding silent
PPEF2ENSG00000156194ENST00000286719p.R118Cc.352C>TSubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.S809Nc.2426G>ASubstitution - Missense
TRAK2ENSG00000115993ENST00000332624p.R415Rc.1245G>ASubstitution - coding silent
FGFR1ENSG00000077782ENST00000447712p.T173Tc.519A>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.A2766Tc.8296G>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.S2467Yc.7400C>ASubstitution - Missense
FKBP5ENSG00000096060ENST00000536438p.D68Vc.203A>TSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.T716Ac.2146A>GSubstitution - Missense
SEL1L3ENSG00000091490ENST00000264868p.H517Qc.1551C>ASubstitution - Missense
CD99L2ENSG00000102181ENST00000370377p.?c.655+1G>CUnknown
HLA-CENSG00000204525ENST00000376228p.L119Fc.355C>TSubstitution - Missense
BMPERENSG00000164619ENST00000297161p.P543Tc.1627C>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.R1295Hc.3884G>ASubstitution - Missense
DLL3ENSG00000090932ENST00000356433p.P251fs*30c.751_752insGGACInsertion - Frameshift
SERTAD4ENSG00000082497ENST00000367012p.G294Ac.881G>CSubstitution - Missense
SCGB1C1ENSG00000188076ENST00000342878p.?c.255+10C>TUnknown
DENND4AENSG00000174485ENST00000431932p.?c.632-8T>AUnknown
PRKACBENSG00000142875ENST00000370685p.?c.688-10T>CUnknown
PRKACBENSG00000142875ENST00000370689p.?c.547-10T>CUnknown
CAMTA1ENSG00000171735ENST00000303635p.?c.303-2A>TUnknown
FMN1ENSG00000248905ENST00000334528p.S447Tc.1339T>ASubstitution - Missense
CD37ENSG00000104894ENST00000391859p.F16Fc.48C>TSubstitution - coding silent
IRS4ENSG00000133124ENST00000372129p.G599fs*12c.1794delADeletion - Frameshift
ZNF808ENSG00000198482ENST00000359798p.G657Gc.1971G>TSubstitution - coding silent
TREM1ENSG00000124731ENST00000244709p.K75Kc.225G>ASubstitution - coding silent
SLC26A5ENSG00000170615ENST00000306312p.I134Ic.402A>TSubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.A415Vc.1244C>TSubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.R480Qc.1439G>ASubstitution - Missense
PRR23CENSG00000233701ENST00000413199p.V87Ic.259G>ASubstitution - Missense
ASB10ENSG00000146926ENST00000420175p.A246Ac.738C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.R1349Qc.4046G>ASubstitution - Missense
GCLCENSG00000001084ENST00000229416p.P233Pc.699G>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.R1408Qc.4223G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.S511Cc.1532C>GSubstitution - Missense
KIAA0368ENSG00000136813ENST00000338205p.L784Lc.2352C>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.S3285*c.9854C>ASubstitution - Nonsense
KRTDAPENSG00000188508ENST00000338897p.P4Pc.12G>ASubstitution - coding silent
CEP290ENSG00000198707ENST00000552810p.E2142Ec.6426A>GSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.?c.3032-5A>TUnknown
DCP1BENSG00000151065ENST00000280665p.D116_K117>Ec.348_350delTAAComplex - deletion inframe
SPTBN5ENSG00000137877ENST00000320955p.T1836Tc.5508C>TSubstitution - coding silent
MYO5CENSG00000128833ENST00000261839p.T638Sc.1913C>GSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.G1648Sc.4942G>ASubstitution - Missense
SLX4IPENSG00000149346ENST00000334534p.E39Kc.115G>ASubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.Q946Qc.2838A>GSubstitution - coding silent
ZNF98ENSG00000197360ENST00000357774p.S167Lc.500C>TSubstitution - Missense
ENST00000305812p.E279Ac.836A>CSubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.S763Sc.2289G>TSubstitution - coding silent
SMCHD1ENSG00000101596ENST00000261598p.S211Sc.633G>TSubstitution - coding silent
PSMC5ENSG00000087191ENST00000310144p.?c.96+6G>AUnknown
MCM5ENSG00000100297ENST00000216122p.P205Lc.614C>TSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
ABHD1ENSG00000143994ENST00000316470p.A336Gc.1007C>GSubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.I38Ic.114A>TSubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.?c.1504+1G>CUnknown
ZNF544ENSG00000198131ENST00000269829p.Q618Ec.1852C>GSubstitution - Missense
CXorf30ENSG00000205081ENST00000378657p.W300Cc.900G>TSubstitution - Missense
CASKENSG00000147044ENST00000378166p.M559Ic.1677G>ASubstitution - Missense
PSKH1ENSG00000159792ENST00000291041p.N401Tc.1202A>CSubstitution - Missense
ALDH8A1ENSG00000118514ENST00000265605p.V35Vc.105G>CSubstitution - coding silent
MFSD12ENSG00000161091ENST00000389395p.?c.1289+10G>CUnknown
RSPO2ENSG00000147655ENST00000276659p.R123Lc.368G>TSubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.N697Nc.2091C>TSubstitution - coding silent
L1CAMENSG00000198910ENST00000370060p.R287Gc.859C>GSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.T2027Tc.6081C>TSubstitution - coding silent
NOSTRINENSG00000163072ENST00000444448p.L423Vc.1267C>GSubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.R920Qc.2759G>ASubstitution - Missense
RALGPS1ENSG00000136828ENST00000394022p.E172Gc.515A>GSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.?c.1303-8C>TUnknown
ENST00000212369p.?c.73-5A>GUnknown
SLC24A3ENSG00000185052ENST00000328041p.A528Dc.1583C>ASubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.R687Qc.2060G>ASubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.N581Sc.1742A>GSubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.I125Fc.373A>TSubstitution - Missense
ZBTB49ENSG00000168826ENST00000337872p.S52Nc.155G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.V42Vc.126G>CSubstitution - coding silent
DYNC1LI1ENSG00000144635ENST00000273130p.L126Qc.377T>ASubstitution - Missense
FBLN1ENSG00000077942ENST00000327858p.I263Vc.787A>GSubstitution - Missense
VIL1ENSG00000127831ENST00000248444p.P220Rc.659C>GSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.S418Pc.1252T>CSubstitution - Missense
MFSD12ENSG00000161091ENST00000398558p.?c.1289+10G>CUnknown
SOHLH1ENSG00000165643ENST00000298466p.W314Lc.941G>TSubstitution - Missense
CYTIPENSG00000115165ENST00000264192p.L213Lc.639G>ASubstitution - coding silent
ODF2LENSG00000122417ENST00000359242p.A574fs*20c.1719_1720insTACAInsertion - Frameshift
CYP4F3ENSG00000186529ENST00000585846p.M198Tc.593T>CSubstitution - Missense
GOLGA6AENSG00000159289ENST00000290438p.G503Rc.1507G>ASubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.R76Qc.227G>ASubstitution - Missense
OR10V1ENSG00000172289ENST00000307552p.A189Dc.566C>ASubstitution - Missense
DRAP1ENSG00000175550ENST00000312515p.A188Vc.563C>TSubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.?c.730-4A>TUnknown
NPAS3ENSG00000151322ENST00000356141p.?c.141-3C>TUnknown
ZNF98ENSG00000197360ENST00000357774p.S167Lc.500C>TSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.A3284Ac.9852G>ASubstitution - coding silent
TTC26ENSG00000105948ENST00000464848p.T456Ac.1366A>GSubstitution - Missense
FERMT1ENSG00000101311ENST00000217289p.G175Ac.524G>CSubstitution - Missense
CXorf67ENSG00000187690ENST00000342995p.P451Rc.1352C>GSubstitution - Missense
NM_203407.1p.P451Rc.1352C>GSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.T173Tc.519A>TSubstitution - coding silent
CD36ENSG00000135218ENST00000394788p.?c.1254+8T>GUnknown
CD36ENSG00000135218ENST00000435819p.?c.1254+8T>GUnknown
IGF2RENSG00000197081ENST00000356956p.G2462Gc.7386G>CSubstitution - coding silent
DIRC2ENSG00000138463ENST00000261038p.T171Kc.512C>ASubstitution - Missense
KLHL26ENSG00000167487ENST00000300976p.S306Sc.918G>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.?c.13995+5_13995+6insTAAAUnknown
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
CYP4F3ENSG00000186529ENST00000221307p.M198Tc.593T>CSubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.A348Tc.1042G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000341321p.?c.141-3C>TUnknown


COSMIC

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