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HSC-2 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1066 mutations reported
408 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
ENST00000454347p.E242Ec.726G>ASubstitution - coding silent
UGT8ENSG00000174607ENST00000394511p.L300Mc.898C>ASubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.L1609Sc.4826T>CSubstitution - Missense
FBLN1ENSG00000077942ENST00000327858p.H688Yc.2062C>TSubstitution - Missense
RAC1ENSG00000136238ENST00000356142p.L196Vc.586C>GSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.?c.1232-1G>CUnknown
ENST00000275189p.F123Fc.369C>TSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ENST00000319379p.Y3281Cc.9842A>GSubstitution - Missense
TOP1ENSG00000198900ENST00000361337p.H81Rc.242A>GSubstitution - Missense
GPR107ENSG00000148358ENST00000347136p.I260Vc.778A>GSubstitution - Missense
TTC16ENSG00000167094ENST00000373289p.W813Rc.2437T>ASubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.K292fs*54c.873_874insCInsertion - Frameshift
MAPKBP1ENSG00000137802ENST00000456763p.S926Cc.2777C>GSubstitution - Missense
ENST00000378024_v70p.H2635Yc.7903C>TSubstitution - Missense
ENST00000379921p.T69Tc.207G>ASubstitution - coding silent
ENST00000545858p.?c.393+1G>AUnknown
SSFA2ENSG00000138434ENST00000431877p.R712Hc.2135G>ASubstitution - Missense
ANKRD13AENSG00000076513ENST00000261739p.D193Hc.577G>CSubstitution - Missense
CLMPENSG00000166250ENST00000448775p.D45fs*6c.132_133insAInsertion - Frameshift
C15orf38ENSG00000242498ENST00000357484p.?c.673-6C>AUnknown
SU_SMG1p.?c.1010-10C>TUnknown
IQSEC3ENSG00000120645ENST00000382841p.L208Rc.623T>GSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.G364Vc.1091G>TSubstitution - Missense
TMEM222ENSG00000186501ENST00000374076p.G81Rc.241G>ASubstitution - Missense
UTP14AENSG00000156697ENST00000394422p.E520fs*14c.1557delADeletion - Frameshift
DNAH9ENSG00000007174ENST00000262442p.E1835Qc.5503G>CSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.A178Vc.533C>TSubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.H467Hc.1401T>CSubstitution - coding silent
ASXL2ENSG00000143970ENST00000435504p.P1320Pc.3960C>TSubstitution - coding silent
ENST00000405167p.T2239Ic.6716C>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.G410Cc.1228G>TSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.C580Sc.1739G>CSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.V1192Vc.3576C>TSubstitution - coding silent
ENST00000396734p.T420Mc.1259C>TSubstitution - Missense
CPNE5ENSG00000124772ENST00000244751p.K222Nc.666G>CSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.D385fs*139c.1153_1159delGATAGCADeletion - Frameshift
RIMS1ENSG00000079841ENST00000521978p.?c.3194+9C>AUnknown
TAF2ENSG00000064313ENST00000378164p.L1105Lc.3313T>CSubstitution - coding silent
RASEFENSG00000165105ENST00000376447p.A572Tc.1714G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.F204Lc.612T>GSubstitution - Missense
PPT2ENSG00000221988ENST00000361568p.S308Pc.922T>CSubstitution - Missense
DRD2ENSG00000149295ENST00000355319p.N176Dc.526A>GSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.L1634Lc.4902G>TSubstitution - coding silent
SEMA6CENSG00000143434ENST00000368913p.N759Nc.2277C>TSubstitution - coding silent
TCEAL6ENSG00000204071ENST00000372773p.C44Gc.130T>GSubstitution - Missense
ALG13ENSG00000101901ENST00000251943p.P190Sc.568C>TSubstitution - Missense
SPATA2ENSG00000158480ENST00000289431p.T31Ac.91A>GSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.T1324Mc.3971C>TSubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.T69Tc.207G>ASubstitution - coding silent
PHOX2BENSG00000109132ENST00000226382p.G90Gc.270C>TSubstitution - coding silent
SLC12A3ENSG00000070915ENST00000438926p.N406Hc.1216A>CSubstitution - Missense
PSAPL1ENSG00000178597ENST00000319098p.G181Ec.542G>ASubstitution - Missense
CASP8ENSG00000064012ENST00000358485p.I498fs*5c.1492delADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.P9016Pc.27048T>GSubstitution - coding silent
LMF1ENSG00000103227ENST00000262301p.?c.1233-5G>AUnknown
RAB37ENSG00000172794ENST00000402449p.E204Kc.610G>ASubstitution - Missense
USP9XENSG00000124486ENST00000324545p.?c.2329-2A>TUnknown
IFNA13ENSG00000233816ENST00000449498p.Y147Hc.439T>CSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.S834Cc.2501C>GSubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.R163Wc.487C>TSubstitution - Missense
ENST00000316490_v65p.R3747Hc.11240G>ASubstitution - Missense
SPAG1ENSG00000104450ENST00000388798p.R819Rc.2457G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.D140Dc.420C>TSubstitution - coding silent
ZNF19ENSG00000157429ENST00000288177p.E259Kc.775G>ASubstitution - Missense
MASP1ENSG00000127241ENST00000296280p.S483Rc.1449T>GSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.R1844Kc.5531G>ASubstitution - Missense
TMEM41AENSG00000163900ENST00000421852p.G204Ac.611G>CSubstitution - Missense
KLHL38ENSG00000175946ENST00000325995p.P83Qc.248C>ASubstitution - Missense
SU_OBSCN.1p.C1920Cc.5760C>TSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
PTPRJENSG00000149177ENST00000418331p.V852Vc.2556C>ASubstitution - coding silent
NM_005056.1p.T1477Kc.4430C>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.?c.5339+10T>AUnknown
ATMENSG00000149311ENST00000278616p.L581Vc.1741T>GSubstitution - Missense
PTHLHENSG00000087494ENST00000354417p.L119Lc.357C>TSubstitution - coding silent
C11orf82ENSG00000165490ENST00000430323p.I838fs*18c.2507_2508insCInsertion - Frameshift
C9orf24ENSG00000164972ENST00000297623p.Y87*c.261C>GSubstitution - Nonsense
NM_032217.3p.P1941Ac.5821C>GSubstitution - Missense
ACY1ENSG00000243989ENST00000458031p.E389Kc.1165G>ASubstitution - Missense
DESENSG00000175084ENST00000373960p.Q465Rc.1394A>GSubstitution - Missense
DMGDHENSG00000132837ENST00000255189p.R153Wc.457C>TSubstitution - Missense
CNTLNENSG00000044459ENST00000380647p.A157Sc.469G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.Y3876Cc.11627A>GSubstitution - Missense
PPARGC1BENSG00000155846ENST00000309241p.A997Tc.2989G>ASubstitution - Missense
BCHEENSG00000114200ENST00000264381p.L358Ic.1072T>ASubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.P1116Lc.3347C>TSubstitution - Missense
NM_133170.2p.H338Qc.1014C>ASubstitution - Missense
EPHX3ENSG00000105131ENST00000221730p.Y115Yc.345C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.L1375Lc.4125G>TSubstitution - coding silent
RUFY1ENSG00000176783ENST00000437570p.P580Pc.1740G>ASubstitution - coding silent
HNRNPA1L2ENSG00000139675ENST00000357495p.S191Cc.572C>GSubstitution - Missense
VCLENSG00000035403ENST00000211998p.L572Lc.1716T>GSubstitution - coding silent
C15orf59ENSG00000205363ENST00000379822p.P128Pc.384C>TSubstitution - coding silent
SPRTNENSG00000010072ENST00000366644p.K2*c.4A>TSubstitution - Nonsense
ENST00000398939p.T115Sc.344C>GSubstitution - Missense
ITPRIPENSG00000148841ENST00000358187p.R496Rc.1488G>ASubstitution - coding silent
NPAP1ENSG00000185823ENST00000329468p.Q396Hc.1188G>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.G1887Ec.5660G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.N815Nc.2445C>TSubstitution - coding silent
IFI27L1ENSG00000165948ENST00000393115p.A57Ac.171C>TSubstitution - coding silent
KAZNENSG00000189337ENST00000376030p.R668Qc.2003G>ASubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.?c.5183-5C>TUnknown
MEIS2ENSG00000134138ENST00000561208p.L312fs*11c.934_937delTTAGDeletion - Frameshift
RPS6KA5ENSG00000100784ENST00000261991p.Q466Hc.1398A>CSubstitution - Missense
PER3ENSG00000049246ENST00000361923p.Q107Ec.319C>GSubstitution - Missense
ADAM33ENSG00000149451ENST00000356518p.Q804Hc.2412A>TSubstitution - Missense
APPENSG00000142192ENST00000346798p.?c.2064+3_2066del5704Unknown
SYNGAP1ENSG00000197283ENST00000293748p.A1045Gc.3134C>GSubstitution - Missense
LRRC15ENSG00000172061ENST00000439944p.R302Wc.904C>TSubstitution - Missense
NELL2ENSG00000184613ENST00000395487p.C423Yc.1268G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.A2623Ac.7869G>ASubstitution - coding silent
GPR107ENSG00000148358ENST00000372406p.I260Vc.778A>GSubstitution - Missense
BCANENSG00000132692ENST00000361588p.S360Fc.1079C>TSubstitution - Missense
KRT3ENSG00000186442ENST00000417996p.L495Vc.1483C>GSubstitution - Missense
MGST1ENSG00000008394ENST00000396207p.N58fs*9c.170_171delAADeletion - Frameshift
OR5A2ENSG00000172324ENST00000302040p.L251Fc.751C>TSubstitution - Missense
GNB1ENSG00000078369ENST00000378609p.A305Ac.915A>TSubstitution - coding silent
NUDT22ENSG00000149761ENST00000279206p.S86Yc.257C>ASubstitution - Missense
AKR7A3ENSG00000162482ENST00000361640p.W319Cc.957G>CSubstitution - Missense
ZNF664ENSG00000179195ENST00000337815p.M20Vc.58A>GSubstitution - Missense
SIK1ENSG00000142178ENST00000270162p.R256Cc.766C>TSubstitution - Missense
KRTAP10-7ENSG00000205441ENST00000380102p.C161Cc.483T>CSubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.C174Wc.522C>GSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.?c.2506-10C>TUnknown
ALS2ENSG00000003393ENST00000264276p.K498Mc.1493A>TSubstitution - Missense
RGS19ENSG00000171700ENST00000395042p.?c.31-6C>TUnknown
HMGXB4ENSG00000100281ENST00000216106p.?c.1297+5G>CUnknown
ZNF836ENSG00000196267ENST00000322146p.Q583Qc.1749A>GSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.K1642Nc.4926A>CSubstitution - Missense
MDFIENSG00000112559ENST00000373051p.T42Ac.124A>GSubstitution - Missense
CCDC8ENSG00000169515ENST00000307522p.S273Cc.818C>GSubstitution - Missense
FNIP1ENSG00000217128ENST00000510461p.N877Sc.2630A>GSubstitution - Missense
ENST00000316490_v65p.N2888Sc.8663A>GSubstitution - Missense
CALB2ENSG00000172137ENST00000302628p.Y126Yc.378C>TSubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.L1346Fc.4036C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S3822Pc.11464T>CSubstitution - Missense
TP63ENSG00000073282ENST00000354600p.T61Ic.182C>TSubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.T453Tc.1359G>TSubstitution - coding silent
HOOK3ENSG00000168172ENST00000307602p.E384Kc.1150G>ASubstitution - Missense
CAPN8ENSG00000203697ENST00000430824p.A103Pc.307G>CSubstitution - Missense
HLXENSG00000136630ENST00000366903p.Q287*c.859C>TSubstitution - Nonsense
SIAEENSG00000110013ENST00000263593p.Q382*c.1144C>TSubstitution - Nonsense
LRP5ENSG00000162337ENST00000294304p.S1377*c.4130C>GSubstitution - Nonsense
AHNAK2ENSG00000185567ENST00000333244p.E2558Qc.7672G>CSubstitution - Missense
SPPL2AENSG00000138600ENST00000261854p.D412Hc.1234G>CSubstitution - Missense
MAP2K7ENSG00000076984ENST00000397979p.E204*c.610G>TSubstitution - Nonsense
ALG13ENSG00000101901ENST00000394780p.P294Sc.880C>TSubstitution - Missense
PITPNAENSG00000174238ENST00000313486p.D241Ac.722A>CSubstitution - Missense
NM_080674.1p.R257Qc.770G>ASubstitution - Missense
ADAM33ENSG00000149451ENST00000356518p.V805Ac.2414T>CSubstitution - Missense
PIGSENSG00000087111ENST00000308360p.K99Ec.295A>GSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.Q2061Qc.6183A>GSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.612_615-4del4505Unknown
ENST00000355436_v68p.E151Ec.453G>ASubstitution - coding silent
ENST00000426361p.E172Ec.516G>ASubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.I456fs*5c.1366delADeletion - Frameshift
RTEL1ENSG00000258366ENST00000508582p.G434Cc.1300G>TSubstitution - Missense
MIOXENSG00000100253ENST00000216075p.W115Cc.345G>TSubstitution - Missense
TOM1L1ENSG00000141198ENST00000575882p.R325Rc.975G>TSubstitution - coding silent
ACBD4ENSG00000181513ENST00000431281p.G2Cc.4G>TSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.?c.425-10C>GUnknown
OR51F1ENSG00000188069ENST00000380383p.V254Vc.762G>ASubstitution - coding silent
PTPRJENSG00000149177ENST00000440289p.E336Dc.1008G>TSubstitution - Missense
DIRC2ENSG00000138463ENST00000261038p.V397Mc.1189G>ASubstitution - Missense
AK9ENSG00000155085ENST00000424296p.Q1010Qc.3030G>ASubstitution - coding silent
FNDC1ENSG00000164694ENST00000297267p.R980Hc.2939G>ASubstitution - Missense
SC5DENSG00000109929ENST00000392789p.N202Nc.606T>CSubstitution - coding silent
OR5P3ENSG00000182334ENST00000328375p.M136Tc.407T>CSubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.D72Dc.216T>CSubstitution - coding silent
KMT2AENSG00000118058ENST00000534358p.M2421Vc.7261A>GSubstitution - Missense
SIX6ENSG00000184302ENST00000327720p.G25Sc.73G>ASubstitution - Missense
HPENSG00000257017ENST00000228226p.H145Qc.435C>GSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.?c.5817+1G>CUnknown
SETENSG00000119335ENST00000372688p.?c.1_41-3del1181Unknown
UTRNENSG00000152818ENST00000367526p.I187Vc.559A>GSubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.C462Cc.1386T>CSubstitution - coding silent
CYP2C18ENSG00000108242ENST00000285979p.M345Lc.1033A>CSubstitution - Missense
WBP4ENSG00000120688ENST00000379487p.H226Rc.677A>GSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.?c.622-8C>GUnknown
SEMA4AENSG00000196189ENST00000368285p.P238Sc.712C>TSubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.Y841Yc.2523T>CSubstitution - coding silent
ENST00000298047_v61p.F274Lc.822C>ASubstitution - Missense
CYP4A22ENSG00000162365ENST00000371891p.L274fs*107c.820delCDeletion - Frameshift
LARP6ENSG00000166173ENST00000299213p.P377Pc.1131G>CSubstitution - coding silent
TMEM2ENSG00000135048ENST00000377044p.K1177Rc.3530A>GSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.S697Tc.2089T>ASubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.S697Tc.2089T>ASubstitution - Missense
TMPRSS3ENSG00000160183ENST00000291532p.Q227Qc.681G>ASubstitution - coding silent
PLECENSG00000178209ENST00000354958p.S2210Lc.6629C>TSubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.V348Ic.1042G>ASubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.D1296Hc.3886G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2368Rc.7103C>GSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.G819Gc.2457A>GSubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.K1093Kc.3279A>GSubstitution - coding silent
HIVEP1ENSG00000095951ENST00000379388p.A2409Pc.7225G>CSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.G536Ac.1607G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.R4478fs*13c.13431_13432insTInsertion - Frameshift
NPC1L1ENSG00000015520ENST00000289547p.R176Rc.528C>TSubstitution - coding silent
VIPR2ENSG00000106018ENST00000262178p.?c.152-4C>TUnknown
SONENSG00000159140ENST00000290239p.T579Tc.1737T>GSubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000380399p.Q311Qc.933G>ASubstitution - coding silent
MIOXENSG00000100253ENST00000395733p.G126Vc.377G>TSubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.A90Ac.270T>CSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.?c.672+1G>AUnknown
SSFA2ENSG00000138434ENST00000320370p.R712Hc.2135G>ASubstitution - Missense
TGIF2ENSG00000118707ENST00000373872p.R107Hc.320G>ASubstitution - Missense
ENSG00000203691ENST00000366845p.V71_P72delVPc.211_216delGTGCCADeletion - In frame
NM_033667.1p.C462Cc.1386T>CSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.H2635Yc.7903C>TSubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.Q461Hc.1383G>CSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.T1472Kc.4415C>ASubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.V1000Vc.3000G>ASubstitution - coding silent
PRAMEF12ENSG00000116726ENST00000357726p.F238Lc.714C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.N820Nc.2460C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.?c.10953-3T>CUnknown
SNX1ENSG00000028528ENST00000559844p.?c.808-4G>AUnknown
RYR3ENSG00000198838ENST00000389232p.S2889Sc.8667C>TSubstitution - coding silent
ENST00000215591p.A541Sc.1621G>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.P1217Lc.3650C>TSubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.S264Sc.792C>TSubstitution - coding silent
ESCO2ENSG00000171320ENST00000305188p.?c.52_54-3del794Unknown
DNM2ENSG00000079805ENST00000389253p.?c.1558-7C>AUnknown
PLECENSG00000178209ENST00000354958p.A2615Ac.7845G>ASubstitution - coding silent
MTMR3ENSG00000100330ENST00000401950p.K95Rc.284A>GSubstitution - Missense
ZNF419ENSG00000105136ENST00000347466p.C428Rc.1282T>CSubstitution - Missense
SRP19ENSG00000153037ENST00000505459p.R118Wc.352A>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.D371Nc.1111G>ASubstitution - Missense
SPICE1ENSG00000163611ENST00000295872p.I94Vc.280A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.L1569Lc.4707G>TSubstitution - coding silent
KIF18BENSG00000186185ENST00000339151p.P684Lc.2051C>TSubstitution - Missense
ANAPC4ENSG00000053900ENST00000315368p.K443Rc.1328A>GSubstitution - Missense
C9orf62ENSG00000178243ENST00000320778p.G51Vc.152G>TSubstitution - Missense
CRYGNENSG00000127377ENST00000337323p.T179Sc.536C>GSubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.?c.3858-2A>GUnknown
ESYT2ENSG00000117868ENST00000251527p.R518Sc.1554G>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.M3981Vc.11941A>GSubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.V167Vc.501G>ASubstitution - coding silent
AGBL2ENSG00000165923ENST00000298861p.F493fs*9c.1479delTDeletion - Frameshift
KRTAP5-3ENSG00000196224ENST00000399685p.S117Sc.351C>TSubstitution - coding silent
DCDC1ENSG00000170959ENST00000339794p.G218Wc.652G>TSubstitution - Missense
NM_005933.1p.M2418Vc.7252A>GSubstitution - Missense
DRD2ENSG00000149295ENST00000362072p.N176Dc.526A>GSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.S192Sc.576C>GSubstitution - coding silent
SPPL2AENSG00000138600ENST00000261854p.G411Gc.1233A>TSubstitution - coding silent
CCDC17ENSG00000159588ENST00000343901p.S250Sc.750G>ASubstitution - coding silent
CARS2ENSG00000134905ENST00000257347p.D228Vc.683A>TSubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.Q466Hc.1398A>CSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.G564Sc.1690G>ASubstitution - Missense
STHENSG00000256762ENST00000537309p.*129*c.387G>ASubstitution - coding silent
C8BENSG00000021852ENST00000371237p.R132Rc.396G>ASubstitution - coding silent
MYO1CENSG00000197879ENST00000361007p.T418Tc.1254G>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.A178Vc.533C>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.T579Tc.1737T>GSubstitution - coding silent
ENST00000307164p.P38Qc.113C>ASubstitution - Missense
METAP1DENSG00000172878ENST00000315796p.G77Sc.229G>ASubstitution - Missense
GP6ENSG00000088053ENST00000310373p.P316_A318delPPAc.945_953delCCCTCCCGCDeletion - In frame
ZNF343ENSG00000088876ENST00000278772p.G303Gc.909G>ASubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.L589Qc.1766T>ASubstitution - Missense
CHN2ENSG00000106069ENST00000222792p.R299Qc.896G>ASubstitution - Missense
SIX5ENSG00000177045ENST00000317578p.G712Dc.2135G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.K1099Kc.3297A>GSubstitution - coding silent
NM_032457.1p.P698Pc.2094C>TSubstitution - coding silent
RPAINENSG00000129197ENST00000405578p.Q170Lc.509A>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.?c.3114-7T>CUnknown
PHACTR1ENSG00000112137ENST00000379348p.A123Dc.368C>ASubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.T777Ic.2330C>TSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.I2188Ic.6564C>TSubstitution - coding silent
OR1I1ENSG00000094661ENST00000209540p.E22Gc.65A>GSubstitution - Missense
SERPIND1ENSG00000099937ENST00000215727p.V458Mc.1372G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.P3073Pc.9219C>TSubstitution - coding silent
HAUS8ENSG00000131351ENST00000253669p.K183Ec.547A>GSubstitution - Missense
SPATA4ENSG00000150628ENST00000280191p.Y149Sc.446A>CSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.L941Lc.2823C>TSubstitution - coding silent
LILRB3ENSG00000204577ENST00000346401p.A391Ac.1173G>ASubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.H338Qc.1014C>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.L1380Lc.4140G>TSubstitution - coding silent
COL9A1ENSG00000112280ENST00000370499p.?c.829-8C>TUnknown
PLECENSG00000178209ENST00000354589p.A2637Ac.7911G>ASubstitution - coding silent
CNTLNENSG00000044459ENST00000262360p.A157Sc.469G>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.A778Vc.2333C>TSubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.V36Vc.108G>ASubstitution - coding silent
BCANENSG00000132692ENST00000329117p.S360Fc.1079C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R1129Qc.3386G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.Y841Yc.2523T>CSubstitution - coding silent
DYNC2H1ENSG00000187240ENST00000398093p.I923Vc.2767A>GSubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.?c.1875+9C>TUnknown
CLCN7ENSG00000103249ENST00000382745p.?c.739-10T>AUnknown
LAG3ENSG00000089692ENST00000203629p.H336Yc.1006C>TSubstitution - Missense
PRAM1ENSG00000133246ENST00000423345p.F281Lc.841T>CSubstitution - Missense
ASXL2ENSG00000143970ENST00000272341p.P803Pc.2409C>TSubstitution - coding silent
TCN2ENSG00000185339ENST00000215838p.?c.581-8A>TUnknown
CDH18ENSG00000145526ENST00000507958p.L202Lc.606C>TSubstitution - coding silent
OR2V2ENSG00000182613ENST00000328275p.G17Rc.49G>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.?c.1461+10C>GUnknown
PRR14ENSG00000156858ENST00000300835p.M187Vc.559A>GSubstitution - Missense
KYENSG00000174611ENST00000423778p.E518Ec.1554G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.R4535fs*13c.13602_13603insTInsertion - Frameshift
HMGB3ENSG00000029993ENST00000325307p.?c.290+1_291-1del937Unknown
DDR1ENSG00000204580ENST00000361741p.*442Kc.1324T>ANonstop extension
OBSCNENSG00000154358ENST00000570156p.?c.11156-8C>TUnknown
ADAMTSL3ENSG00000156218ENST00000286744p.R913Cc.2737C>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.F165Ic.493T>ASubstitution - Missense
NOMO1ENSG00000103512ENST00000287667p.?c.2055-7C>TUnknown
TLN2ENSG00000171914ENST00000306829p.?c.6477+7A>GUnknown
KCNH5ENSG00000140015ENST00000394968p.N345Yc.1033A>TSubstitution - Missense
EIF2S1ENSG00000134001ENST00000256383p.A287Ac.861G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375604p.F183Fc.549C>TSubstitution - coding silent
FAM171BENSG00000144369ENST00000304698p.T233Ac.697A>GSubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.P1214Lc.3641C>TSubstitution - Missense
AMOTENSG00000126016ENST00000371959p.D206Nc.616G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.V973Vc.2919G>CSubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.G617Rc.1849G>ASubstitution - Missense
NME4ENSG00000103202ENST00000219479p.?c.328-3C>AUnknown
TNK2ENSG00000061938ENST00000381916p.L667Qc.2000T>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3456Sc.10366C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.L202Lc.606C>TSubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.C943Yc.2828G>ASubstitution - Missense
ENST00000295872_v68p.I94Vc.280A>GSubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.A422Tc.1264G>ASubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.K146Tc.437A>CSubstitution - Missense
NM_004224.1p.P10Tc.28C>ASubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.D367_V369>Ec.1101_1106delTGTGGTComplex - deletion inframe
OR2H2ENSG00000204657ENST00000383640p.V295Lc.883G>CSubstitution - Missense
ENSG00000167674ENST00000301284p.G552Gc.1656C>TSubstitution - coding silent
AP1M1ENSG00000072958ENST00000291439p.L276Fc.828G>CSubstitution - Missense
NSL1ENSG00000117697ENST00000422588p.P157Lc.470C>TSubstitution - Missense
DNM2ENSG00000079805ENST00000314646p.?c.1558-7C>AUnknown
MUC4ENSG00000145113ENST00000463781p.P1616Sc.4846C>TSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.E336Dc.1008G>TSubstitution - Missense
TET2ENSG00000168769ENST00000380013p.R814Cc.2440C>TSubstitution - Missense
RUFY1ENSG00000176783ENST00000319449p.P688Pc.2064G>ASubstitution - coding silent
NSL1ENSG00000117697ENST00000366977p.P157Lc.470C>TSubstitution - Missense
EEA1ENSG00000102189ENST00000322349p.E1010Gc.3029A>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.L581Vc.1741T>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.T5406Tc.16218A>CSubstitution - coding silent
TRIM66ENSG00000166436ENST00000299550p.P667Pc.2001C>TSubstitution - coding silent
SPPL2AENSG00000138600ENST00000261854p.D412Hc.1234G>CSubstitution - Missense
NM_032133.2p.K475Nc.1425G>TSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.V696Ac.2087T>CSubstitution - Missense
IL33ENSG00000137033ENST00000381434p.G100Wc.298G>TSubstitution - Missense
PPM1DENSG00000170836ENST00000305921p.C346Fc.1037G>TSubstitution - Missense
TMF1ENSG00000144747ENST00000398559p.E462Dc.1386G>TSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.A727Sc.2179G>TSubstitution - Missense
CABS1ENSG00000145309ENST00000273936p.T25Nc.74C>ASubstitution - Missense
ALDH5A1ENSG00000112294ENST00000348925p.K214Ec.640A>GSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.?c.2283+2T>CUnknown
ANKRD36ENSG00000135976ENST00000461153p.N735Nc.2205C>TSubstitution - coding silent
ENST00000265148.1p.E1949Ec.5847A>GSubstitution - coding silent
XIRP1ENSG00000168334ENST00000340369p.R276Qc.827G>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.H369Hc.1107C>TSubstitution - coding silent
PLCH1ENSG00000114805ENST00000340059p.E1054fs*7c.3161_3165delAACAGDeletion - Frameshift
PLCH1ENSG00000114805ENST00000334686p.E1016fs*7c.3047_3051delAACAGDeletion - Frameshift
KPNA4ENSG00000186432ENST00000334256p.L435Vc.1303C>GSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.P1952Pc.5856A>GSubstitution - coding silent
FRG1ENSG00000109536ENST00000226798p.S169Ic.506G>TSubstitution - Missense
RPAINENSG00000129197ENST00000381209p.Q170Lc.509A>TSubstitution - Missense
TTC14ENSG00000163728ENST00000382584p.A418Sc.1252G>TSubstitution - Missense
ENST00000264546_v70p.R497Cc.1489C>TSubstitution - Missense
PMLENSG00000140464ENST00000569477p.S637Fc.1910C>TSubstitution - Missense
BCAS1ENSG00000064787ENST00000371440p.K464fs*31c.1391_1395delAAAGADeletion - Frameshift
ZIC3ENSG00000156925ENST00000370606p.C302Cc.906C>TSubstitution - coding silent
ENST00000381532_v70p.V125Lc.373G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.672+1G>AUnknown
KIAA1549LENSG00000110427ENST00000321505p.T1194Tc.3582G>ASubstitution - coding silent
ENST00000266524p.?c.4167+1G>AUnknown
LHX8ENSG00000162624ENST00000294638p.Q243Qc.729A>GSubstitution - coding silent
LENG8ENSG00000167615ENST00000326764p.S63Ic.188G>TSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.D330Nc.988G>ASubstitution - Missense
PROCA1ENSG00000167525ENST00000301039p.D293Ec.879T>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.R980Sc.2940A>TSubstitution - Missense
KRTAP26-1ENSG00000197683ENST00000360542p.S8Sc.24G>CSubstitution - coding silent
GRSF1ENSG00000132463ENST00000254799p.K480fs?c.1440delADeletion - Frameshift
LILRB3ENSG00000204577ENST00000391750p.A391Ac.1173G>ASubstitution - coding silent
LIMK2ENSG00000182541ENST00000340552p.G574fs*17c.1711_1712insCCInsertion - Frameshift
LILRA6ENSG00000244482ENST00000396365p.A391Ac.1173G>ASubstitution - coding silent
USP53ENSG00000145390ENST00000274030p.G248Gc.744T>ASubstitution - coding silent
IQGAP2ENSG00000145703ENST00000274364p.R49Kc.146G>ASubstitution - Missense
ZNF101ENSG00000181896ENST00000318110p.L28Fc.82C>TSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.L1105Lc.3313T>CSubstitution - coding silent
PSG6ENSG00000170848ENST00000187910p.F204Lc.612T>GSubstitution - Missense
RTDR1ENSG00000100218ENST00000216036p.P29Lc.86C>TSubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.D140Dc.420C>TSubstitution - coding silent
ICKENSG00000112144ENST00000350082p.I78Ic.234C>TSubstitution - coding silent
VWA2ENSG00000165816ENST00000392982p.R591Wc.1771C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.D2012Nc.6034G>ASubstitution - Missense
ENST00000405167p.S2106Yc.6317C>ASubstitution - Missense
ENST00000327303p.D167Hc.499G>CSubstitution - Missense
FNDC3AENSG00000102531ENST00000492622p.E1028Kc.3082G>ASubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.K1515Ec.4543A>GSubstitution - Missense
HPS6ENSG00000166189ENST00000299238p.L494Lc.1482G>ASubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.G1872Sc.5614G>ASubstitution - Missense
SYNMENSG00000182253ENST00000336292p.S1542Tc.4624T>ASubstitution - Missense
ADAT1ENSG00000065457ENST00000307921p.G389Sc.1165G>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.T219Tc.657G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.?c.672+1G>AUnknown
TK1ENSG00000167900ENST00000301634p.R186Rc.558G>TSubstitution - coding silent
FAM205AENSG00000205108ENST00000378788p.V696Ac.2087T>CSubstitution - Missense
DDX27ENSG00000124228ENST00000371764p.E59Kc.175G>ASubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.?c.761_763-3del3522Unknown
MMP16ENSG00000156103ENST00000286614p.L30Fc.90A>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.R1729Sc.5187A>TSubstitution - Missense
TNPO2ENSG00000105576ENST00000425528p.W370*c.1110G>ASubstitution - Nonsense
ENST00000242365_v65p.?c.3883-3C>TUnknown
SONENSG00000159140ENST00000356577p.T579Tc.1737T>GSubstitution - coding silent
KAAG1ENSG00000146049ENST00000274766p.P44Ac.130C>GSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.K642*c.1924A>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.L19693Lc.59079A>TSubstitution - coding silent
NM_003319p.L19568Lc.58704A>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.S2532*c.7595C>GSubstitution - Nonsense
TTI2ENSG00000129696ENST00000360742p.R472Wc.1414C>TSubstitution - Missense
CMTM2ENSG00000140932ENST00000268595p.W73*c.218G>ASubstitution - Nonsense
APOBEC3HENSG00000100298ENST00000442487p.E70Gc.209A>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.S174fs*1c.521_540del20Deletion - Frameshift
ANKRD32ENSG00000133302ENST00000265140p.M991Ic.2973G>ASubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.R454Hc.1361G>ASubstitution - Missense
DSTENSG00000151914ENST00000370754p.S678fs*1c.2033_2052del20Deletion - Frameshift
ADAM19ENSG00000135074ENST00000257527p.A88Ac.264T>CSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.R175fs*46c.523_524insCInsertion - Frameshift
PLIN4ENSG00000167676ENST00000301286p.G516Sc.1546G>ASubstitution - Missense
PSMB8ENSG00000204264ENST00000374881p.G57Ec.170G>ASubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.I1002Ic.3006T>CSubstitution - coding silent
FAM9CENSG00000187268ENST00000542843p.A2Vc.5C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.S2218Lc.6653C>TSubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.?c.457+2T>CUnknown
DLL4ENSG00000128917ENST00000249749p.R334Hc.1001G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.C2203Cc.6609C>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.R1659fs*34c.4976delGDeletion - Frameshift
EPHA3ENSG00000044524ENST00000336596p.S452Sc.1356C>TSubstitution - coding silent
NRSN1ENSG00000152954ENST00000378491p.C8Cc.24T>CSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.A2664Ac.7992G>ASubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.I456fs*5c.1366delADeletion - Frameshift
RFTN2ENSG00000162944ENST00000295049p.?c.1154+3A>TUnknown
KIR2DS4ENSG00000221957ENST00000391729p.A169Tc.505G>ASubstitution - Missense
MPV17ENSG00000115204ENST00000380044p.A97Tc.289G>ASubstitution - Missense
CDO1ENSG00000129596ENST00000250535p.T163Rc.488C>GSubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.L630Fc.1888C>TSubstitution - Missense
FCHO2ENSG00000157107ENST00000430046p.Y690Cc.2069A>GSubstitution - Missense
SLC16A10ENSG00000112394ENST00000368851p.S210Sc.630C>TSubstitution - coding silent
HMGB3ENSG00000029993ENST00000325307p.?c.464_466-3del474Unknown
BCLAF1ENSG00000029363ENST00000531224p.F869Sc.2606T>CSubstitution - Missense
CCT6BENSG00000132141ENST00000314144p.G493Ac.1478G>CSubstitution - Missense
PWWP2AENSG00000170234ENST00000456329p.S119Lc.356C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.R175fs*46c.523_524insCInsertion - Frameshift
ABCA13ENSG00000179869ENST00000435803p.Y3336Cc.10007A>GSubstitution - Missense
SLC2A11ENSG00000133460ENST00000398356p.S298Sc.894G>ASubstitution - coding silent
HIST1H2AGENSG00000196787ENST00000359193p.G3Ac.8G>CSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.A1045Gc.3134C>GSubstitution - Missense
DEFB110ENSG00000203970ENST00000393660p.F12Fc.36T>CSubstitution - coding silent
TNKS1BP1ENSG00000149115ENST00000358252p.S1229Cc.3686C>GSubstitution - Missense
IZUMO4ENSG00000099840ENST00000395307p.S171Nc.512G>ASubstitution - Missense
FBLN1ENSG00000077942ENST00000348697p.H688Yc.2062C>TSubstitution - Missense
THADAENSG00000115970ENST00000330266p.A182Gc.545C>GSubstitution - Missense
LRIT3ENSG00000183423ENST00000594814p.Y151Cc.452A>GSubstitution - Missense
PLECENSG00000178209ENST00000354589p.S2232Lc.6695C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.V1256Lc.3766G>TSubstitution - Missense
FAM58AENSG00000147382ENST00000406277p.I119Ic.357C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.E613Gc.1838A>GSubstitution - Missense
GALNT6ENSG00000139629ENST00000356317p.A115fs*24c.343_344insGInsertion - Frameshift
HIST3H3ENSG00000168148ENST00000366696p.K5Kc.15G>ASubstitution - coding silent
CABP2ENSG00000167791ENST00000294288p.R216Qc.647G>ASubstitution - Missense
AMER2ENSG00000165566ENST00000515384p.D484Gc.1451A>GSubstitution - Missense
ARHGEF19ENSG00000142632ENST00000270747p.R95Wc.283C>TSubstitution - Missense
CCAR1ENSG00000060339ENST00000265872p.H732Yc.2194C>TSubstitution - Missense
PRC1ENSG00000198901ENST00000394249p.?c.1791+9G>AUnknown
YME1L1ENSG00000136758ENST00000326799p.?c.1891-6G>AUnknown
PPM1AENSG00000100614ENST00000529574p.H206Yc.616C>TSubstitution - Missense
ENST00000343901_v65p.S250Sc.750G>ASubstitution - coding silent
SHANK1ENSG00000161681ENST00000391813p.S91Sc.273G>CSubstitution - coding silent
SAT2ENSG00000141504ENST00000269298p.D93Nc.277G>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000338458p.D362Nc.1084G>ASubstitution - Missense
BMP7ENSG00000101144ENST00000395863p.I378Ic.1134C>TSubstitution - coding silent
ENST00000355436p.E151Ec.453G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L19760Lc.59280A>TSubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.T912Sc.2734A>TSubstitution - Missense
RAPH1ENSG00000173166ENST00000319170p.D1199Dc.3597T>CSubstitution - coding silent
CHN2ENSG00000106069ENST00000409041p.R163Qc.488G>ASubstitution - Missense
NM_001371.1p.D1795Nc.5383G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.S500fs*1c.1499_1518del20Deletion - Frameshift
RNF43ENSG00000108375ENST00000407977p.S607Sc.1821G>ASubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.?c.3114-7T>CUnknown
MCF2LENSG00000126217ENST00000423482p.F124Fc.372C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000361741p.D98_V100>Ec.294_299delTGTGGTComplex - deletion inframe
CEP19ENSG00000174007ENST00000409690p.E28Dc.84A>TSubstitution - Missense
MTMR3ENSG00000100330ENST00000333027p.K95Rc.284A>GSubstitution - Missense
ABCF2ENSG00000033050ENST00000222388p.?c.1401+7G>CUnknown
AK9ENSG00000155085ENST00000355283p.Q89Qc.267G>ASubstitution - coding silent
C3AR1ENSG00000171860ENST00000307637p.L197Lc.591T>CSubstitution - coding silent
FAM111BENSG00000189057ENST00000343597p.K382fs*7c.1142delADeletion - Frameshift
FGD6ENSG00000180263ENST00000343958p.?c.2685+1G>TUnknown
NOTCH2ENSG00000134250ENST00000256646p.Q1634Ec.4900C>GSubstitution - Missense
KCNJ11ENSG00000187486ENST00000339994p.I284Ic.852C>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.R834Qc.2501G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.A760Vc.2279C>TSubstitution - Missense
PROCA1ENSG00000167525ENST00000439862p.D295Ec.885T>ASubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.K475Nc.1425G>TSubstitution - Missense
KIF18BENSG00000186185ENST00000590129p.P693Lc.2078C>TSubstitution - Missense
TK1ENSG00000167900ENST00000588734p.R219Rc.657G>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R1776Cc.5326C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.V1339Vc.4017G>ASubstitution - coding silent
ZNF766ENSG00000196214ENST00000359102p.L189Lc.567G>TSubstitution - coding silent
MAP2K7ENSG00000076984ENST00000545011p.E246*c.736G>TSubstitution - Nonsense
VAV1ENSG00000141968ENST00000602142p.A263Tc.787G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.K548Ec.1642A>GSubstitution - Missense
TMPRSS3ENSG00000160183ENST00000398397p.Q227Qc.681G>ASubstitution - coding silent
APOBEC3HENSG00000100298ENST00000421988p.E70Gc.209A>GSubstitution - Missense
SLC2A11ENSG00000133460ENST00000345044p.S291Sc.873G>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.S2894Sc.8682A>CSubstitution - coding silent
POLR1BENSG00000125630ENST00000541869p.P610Lc.1829C>TSubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.L1634Lc.4902G>TSubstitution - coding silent
ENST00000310397_v70p.Q1144Qc.3432G>ASubstitution - coding silent
HDAC4ENSG00000068024ENST00000345617p.V837Vc.2511G>ASubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.L1040Vc.3118C>GSubstitution - Missense
HSPBAP1ENSG00000169087ENST00000383659p.D150Nc.448G>ASubstitution - Missense
OR4C12ENSG00000221954ENST00000335238p.D189fs*11c.566delADeletion - Frameshift
DUOXA1ENSG00000140254ENST00000560572p.R306delRc.916_918delCGCDeletion - In frame
CYP4A22ENSG00000162365ENST00000371890p.T222fs*61c.665delCDeletion - Frameshift
UTP14AENSG00000156697ENST00000371042p.E352fs*14c.1053delADeletion - Frameshift
PITPNAENSG00000174238ENST00000539476p.D241Ac.722A>CSubstitution - Missense
ENST00000539533_v68p.Y436Hc.1306T>CSubstitution - Missense
ENSG00000255622ENST00000539533p.Y436Hc.1306T>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.P865Pc.2595G>ASubstitution - coding silent
MYBENSG00000118513ENST00000316528p.M416Ic.1248G>ASubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.G364Gc.1092A>TSubstitution - coding silent
NRSN1ENSG00000152954ENST00000378477p.C8Cc.24T>CSubstitution - coding silent
NRSN1ENSG00000152954ENST00000378475p.C8Cc.24T>CSubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.V1212Vc.3636C>TSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372917p.V1121Vc.3363C>TSubstitution - coding silent
COL9A1ENSG00000112280ENST00000370499p.G433Gc.1299T>CSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.P1431Hc.4292C>ASubstitution - Missense
CNTLNENSG00000044459ENST00000380641p.A157Sc.469G>TSubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.P34Pc.102G>ASubstitution - coding silent
MB21D2ENSG00000180611ENST00000392452p.Q311Ec.931C>GSubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.P1510Pc.4530G>ASubstitution - coding silent
ITGB1ENSG00000150093ENST00000423113p.C462Cc.1386T>CSubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.L452Lc.1356G>ASubstitution - coding silent
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
ENST00000234505p.I295Tc.884T>CSubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.C474Yc.1421G>ASubstitution - Missense
ENST00000298715p.R591Wc.1771C>TSubstitution - Missense
FCGR2BENSG00000072694ENST00000358671p.L295Pc.884T>CSubstitution - Missense
MARCKSL1ENSG00000175130ENST00000329421p.P50Rc.149C>GSubstitution - Missense
SERINC4ENSG00000184716ENST00000319327p.M258fs*45c.772_773insCTInsertion - Frameshift
SEMA6CENSG00000143434ENST00000341697p.N727Nc.2181C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.F274Lc.822C>ASubstitution - Missense
ENST00000338894p.R115Qc.344G>ASubstitution - Missense
PDE4BENSG00000184588ENST00000329654p.?c.747+10G>TUnknown
MYCBPAPENSG00000136449ENST00000323776p.K512Nc.1536G>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.V1139Gc.3416T>GSubstitution - Missense
C9orf129ENSG00000204352ENST00000375419p.S108Lc.323C>TSubstitution - Missense
KIAA1432ENSG00000107036ENST00000381532p.V125Lc.373G>CSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.?c.3223-10C>AUnknown
NM_032682.3p.M101Vc.301A>GSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000413728p.D336Nc.1006G>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.D330Nc.988G>ASubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.?c.1276_1280-5del1715Unknown
HIST1H4KENSG00000197914ENST00000357549p.V66Vc.198G>CSubstitution - coding silent
HLA-AENSG00000206503ENST00000396634p.K292fs*48c.873_874insCInsertion - Frameshift
DDR1ENSG00000204580ENST00000376575p.D367_V369>Ec.1101_1106delTGTGGTComplex - deletion inframe
DDR1ENSG00000204580ENST00000324771p.D367_V369>Ec.1101_1106delTGTGGTComplex - deletion inframe
ENST00000539307p.R52Lc.155G>TSubstitution - Missense
ENST00000539307p.R212fs*46c.634_635insCInsertion - Frameshift
KCND2ENSG00000184408ENST00000331113p.T280Tc.840A>GSubstitution - coding silent
TMEM168ENSG00000146802ENST00000312814p.R34Rc.102G>TSubstitution - coding silent
MICALL2ENSG00000164877ENST00000297508p.D595Dc.1785C>TSubstitution - coding silent
ZNF282ENSG00000170265ENST00000262085p.L157Qc.470T>ASubstitution - Missense
ABCF2ENSG00000033050ENST00000287844p.?c.1401+7G>CUnknown
ACTBENSG00000075624ENST00000331789p.?c.984+1_985-1del112Unknown
VPS13BENSG00000132549ENST00000358544p.L1720Sc.5159T>CSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.L1695Sc.5084T>CSubstitution - Missense
DPYSENSG00000147647ENST00000351513p.K335Ec.1003A>GSubstitution - Missense
ENST00000331116p.Y101Yc.303T>CSubstitution - coding silent
ENST00000309900p.N446Sc.1337A>GSubstitution - Missense
ENST00000316490p.N2840Sc.8519A>GSubstitution - Missense
ENST00000316490p.R3699Hc.11096G>ASubstitution - Missense
HPRENSG00000261701ENST00000540303p.H108Qc.324C>GSubstitution - Missense
REEP6ENSG00000115255ENST00000395484p.Q401Qc.1203G>ASubstitution - coding silent
TEX101ENSG00000131126ENST00000253435p.G103Ac.308G>CSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G444Sc.1330G>ASubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.T600fs*7c.1797delGDeletion - Frameshift
NBASENSG00000151779ENST00000281513p.Y1495Hc.4483T>CSubstitution - Missense
ACTR3BENSG00000133627ENST00000256001p.D270Dc.810C>TSubstitution - coding silent
ELFN1ENSG00000225968ENST00000424383p.M148Ic.444G>ASubstitution - Missense
VIPR2ENSG00000106018ENST00000262178p.T121Mc.362C>TSubstitution - Missense
SERPIND1ENSG00000099937ENST00000215727p.V458Mc.1372G>ASubstitution - Missense
FIGNENSG00000182263ENST00000333129p.A511Vc.1532C>TSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.L1623Lc.4869G>TSubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.A195Sc.583G>TSubstitution - Missense
PHF20L1ENSG00000129292ENST00000395386p.P366Tc.1096C>ASubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.P340Tc.1018C>ASubstitution - Missense
OR1L6ENSG00000171459ENST00000373684p.L135Mc.403C>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.?c.5832+1G>CUnknown
CRATENSG00000095321ENST00000318080p.T201Tc.603G>ASubstitution - coding silent
SETENSG00000119335ENST00000372692p.?c.111_113-3del7162Unknown
SETENSG00000119335ENST00000322030p.?c.1_74-3del1585Unknown
CLCN2ENSG00000114859ENST00000265593p.D894Ec.2682C>ASubstitution - Missense
TP63ENSG00000073282ENST00000264731p.T155Ic.464C>TSubstitution - Missense
TP63ENSG00000073282ENST00000418709p.T155Ic.464C>TSubstitution - Missense
LRRC15ENSG00000172061ENST00000347624p.R296Wc.886C>TSubstitution - Missense
ADAM29ENSG00000168594ENST00000359240p.R353Gc.1057A>GSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.Y122Hc.364T>CSubstitution - Missense
DCAF16ENSG00000163257ENST00000382247p.G94Vc.281G>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.R1844Kc.5531G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.P3138Pc.9414C>TSubstitution - coding silent
PSMB8ENSG00000204264ENST00000374882p.G61Ec.182G>ASubstitution - Missense
RPP40ENSG00000124787ENST00000380051p.?c.894-3C>TUnknown
DEFB110ENSG00000203970ENST00000371148p.F12Fc.36T>CSubstitution - coding silent
MEP1AENSG00000112818ENST00000230588p.P23Pc.69G>ASubstitution - coding silent
FILIP1ENSG00000118407ENST00000393004p.R163Wc.487C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.672+1G>AUnknown
MLIPENSG00000146147ENST00000274897p.V445Ec.1334T>ASubstitution - Missense
ICKENSG00000112144ENST00000350082p.T471Tc.1413G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.F274Lc.822C>ASubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.F132Fc.396C>TSubstitution - coding silent
SNX27ENSG00000143376ENST00000368838p.D181Yc.541G>TSubstitution - Missense
NSL1ENSG00000117697ENST00000366978p.P54Lc.161C>TSubstitution - Missense
MAST2ENSG00000086015ENST00000372008p.E374Ec.1122G>ASubstitution - coding silent
RGS6ENSG00000182732ENST00000553525p.Y293Yc.879T>CSubstitution - coding silent
RGS6ENSG00000182732ENST00000555571p.Y293Yc.879T>CSubstitution - coding silent
RGS6ENSG00000182732ENST00000554782p.Y154Yc.462T>CSubstitution - coding silent
PVRL3ENSG00000177707ENST00000485303p.L344Vc.1030C>GSubstitution - Missense
PVRL3ENSG00000177707ENST00000493615p.L321Vc.961C>GSubstitution - Missense
NM_006596.3p.T2556Rc.7667C>GSubstitution - Missense
KYENSG00000174611ENST00000423778p.E518Ec.1554G>ASubstitution - coding silent
TMEM108ENSG00000144868ENST00000321871p.A123Ec.368C>ASubstitution - Missense
MRPL3ENSG00000114686ENST00000264995p.P59Sc.175C>TSubstitution - Missense
ZBTB38ENSG00000177311ENST00000514251p.Y578Cc.1733A>GSubstitution - Missense
FHDC1ENSG00000137460ENST00000260008p.R592Mc.1775G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.Y3876Cc.11627A>GSubstitution - Missense
TLR3ENSG00000164342ENST00000296795p.R829Gc.2485A>GSubstitution - Missense
PCDH7ENSG00000169851ENST00000361762p.P745Pc.2235C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.D892Ec.2676C>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.D892Ec.2676C>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.?c.1232-1G>CUnknown
MSH3ENSG00000113318ENST00000265081p.I483Vc.1447A>GSubstitution - Missense
NM_002439.1p.I474Vc.1420A>GSubstitution - Missense
ENST00000255667p.M355Ic.1065G>ASubstitution - Missense
POU5F2ENSG00000248483ENST00000510627p.R307Lc.920G>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.R4802Qc.14405G>ASubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.K491Kc.1473G>ASubstitution - coding silent
PRDM13ENSG00000112238ENST00000369214p.K501Kc.1503G>ASubstitution - coding silent
KDM5DENSG00000012817ENST00000317961p.T284Ac.850A>GSubstitution - Missense
SLC16A10ENSG00000112394ENST00000368851p.A303Ac.909A>GSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.S174fs*1c.521_540del20Deletion - Frameshift
DSTENSG00000151914ENST00000370765p.S174fs*1c.521_540del20Deletion - Frameshift
COL9A1ENSG00000112280ENST00000357250p.G676Gc.2028T>CSubstitution - coding silent
COL9A1ENSG00000112280ENST00000320755p.G433Gc.1299T>CSubstitution - coding silent
COL9A1ENSG00000112280ENST00000357250p.?c.1558-8C>TUnknown
COL9A1ENSG00000112280ENST00000320755p.?c.829-8C>TUnknown
CD109ENSG00000156535ENST00000287097p.P26fs*5c.73delGDeletion - Frameshift
GALNT12ENSG00000119514ENST00000375011p.F365Lc.1093T>CSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.L2536Vc.7606T>GSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.I651Mc.1953A>GSubstitution - Missense
MYBENSG00000118513ENST00000367814p.M416Ic.1248G>ASubstitution - Missense
MYBENSG00000118513ENST00000341911p.M537Ic.1611G>ASubstitution - Missense
ENSG00000272514ENST00000369562p.Q367Qc.1101A>GSubstitution - coding silent
ENST00000296885p.Q367Qc.1101A>GSubstitution - coding silent
OR1D2ENSG00000184166ENST00000331459p.T38Mc.113C>TSubstitution - Missense
FAM101BENSG00000183688ENST00000329099p.?c.105-7C>GUnknown
THADAENSG00000115970ENST00000405975p.A472Gc.1415C>GSubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.L584Lc.1752C>GSubstitution - coding silent
ACBD4ENSG00000181513ENST00000398322p.G2Cc.4G>TSubstitution - Missense
RPAINENSG00000129197ENST00000405578p.Q170Qc.510G>ASubstitution - coding silent
RPAINENSG00000129197ENST00000381209p.Q170Qc.510G>ASubstitution - coding silent
APBA3ENSG00000011132ENST00000316757p.?c.577-7C>AUnknown
TTC14ENSG00000163728ENST00000296015p.A418Sc.1252G>TSubstitution - Missense
MFN1ENSG00000171109ENST00000263969p.L26Qc.77T>ASubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.T817Ic.2450C>TSubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.K146Tc.437A>CSubstitution - Missense
SDCCAG3ENSG00000165689ENST00000357365p.?c.820-9T>GUnknown
SPATA31E1ENSG00000177992ENST00000325643p.N859Dc.2575A>GSubstitution - Missense
ANLNENSG00000011426ENST00000265748p.R810Gc.2428C>GSubstitution - Missense
BLVRAENSG00000106605ENST00000265523p.?c.134+10A>GUnknown
SPANXN4ENSG00000189326ENST00000446864p.S75Sc.225C>TSubstitution - coding silent
HMGB3ENSG00000029993ENST00000325307p.?c.149_151-3del301Unknown
GPR50ENSG00000102195ENST00000218316p.P10Tc.28C>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.T4035Tc.12105G>ASubstitution - coding silent
NM_023038.2p.A89Ac.267T>CSubstitution - coding silent
NM_023038.2p.P864Pc.2592G>ASubstitution - coding silent
ADAM19ENSG00000135074ENST00000257527p.P863Pc.2589G>ASubstitution - coding silent
MAT2BENSG00000038274ENST00000280969p.P279Lc.836C>TSubstitution - Missense
GABRA6ENSG00000145863ENST00000274545p.G68Gc.204G>TSubstitution - coding silent
ENST00000307063_v68p.S119Lc.356C>TSubstitution - Missense
PWWP2AENSG00000170234ENST00000456329p.S119Lc.356C>TSubstitution - Missense
BCORENSG00000183337ENST00000397354p.S263Sc.789A>CSubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.C461Rc.1381T>CSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.I297Tc.890T>CSubstitution - Missense
RAB37ENSG00000172794ENST00000392613p.E211Kc.631G>ASubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.E204Kc.610G>ASubstitution - Missense
TMEM104ENSG00000109066ENST00000335464p.T92Ac.274A>GSubstitution - Missense
REV1ENSG00000135945ENST00000258428p.?c.3542-9C>TUnknown
CTNNB1ENSG00000168036ENST00000349496p.A622Sc.1864G>TSubstitution - Missense
PDLIM5ENSG00000163110ENST00000317968p.P314Pc.942G>ASubstitution - coding silent
STARD4ENSG00000164211ENST00000296632p.?c.156-3C>AUnknown
CTNND2ENSG00000169862ENST00000304623p.M1187Vc.3559A>GSubstitution - Missense
ATP6V1B1ENSG00000116039ENST00000234396p.R38Cc.112C>TSubstitution - Missense
HPS3ENSG00000163755ENST00000296051p.V150Ic.448G>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.L1040Vc.3118C>GSubstitution - Missense
LRIT3ENSG00000183423ENST00000379920p.Y106Cc.317A>GSubstitution - Missense
USP53ENSG00000145390ENST00000274030p.R476Qc.1427G>ASubstitution - Missense
C4orf29ENSG00000164074ENST00000398965p.E242Ec.726G>ASubstitution - coding silent
MGAT4BENSG00000161013ENST00000337755p.N118Sc.353A>GSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.I2632Vc.7894A>GSubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.L630Fc.1888C>TSubstitution - Missense
NM_001453.1p.G380_A381insGc.1141_1142insGCGInsertion - In frame
MYLIPENSG00000007944ENST00000356840p.E188Qc.562G>CSubstitution - Missense
SYTL3ENSG00000164674ENST00000360448p.G296Gc.888A>TSubstitution - coding silent
CHN2ENSG00000106069ENST00000539406p.R374Qc.1121G>ASubstitution - Missense
CROTENSG00000005469ENST00000331536p.L541Fc.1621C>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.R441Rc.1323G>ASubstitution - coding silent
F8ENSG00000185010ENST00000360256p.D371Nc.1111G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.?c.1461+10C>GUnknown
POLR1BENSG00000125630ENST00000263331p.P572Lc.1715C>TSubstitution - Missense
COL4A3ENSG00000169031ENST00000396578p.L846Sc.2537T>CSubstitution - Missense
ENST00000328380p.L846Sc.2537T>CSubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.Q1237_P1238insQc.3696_3697insCAGInsertion - In frame
GIGYF2ENSG00000204120ENST00000373563p.Q1216_P1217insQc.3633_3634insCAGInsertion - In frame
GKN1ENSG00000169605ENST00000377938p.?c.54+2T>GUnknown
ITGB5ENSG00000082781ENST00000296181p.I672Tc.2015T>CSubstitution - Missense
HSPBAP1ENSG00000169087ENST00000306103p.D150Nc.448G>ASubstitution - Missense
DIRC2ENSG00000138463ENST00000261038p.Y383Cc.1148A>GSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.L633Vc.1897C>GSubstitution - Missense
BRD1ENSG00000100425ENST00000342989p.L228Vc.682C>GSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.K1084Kc.3252A>GSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.P709Pc.2127C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.P270Pc.810C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.P2990Rc.8969C>GSubstitution - Missense
MAP4ENSG00000047849ENST00000264724p.K145Ec.433A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.L1390Lc.4170G>TSubstitution - coding silent
FCHO2ENSG00000157107ENST00000430046p.Y690Cc.2069A>GSubstitution - Missense
JMYENSG00000152409ENST00000396137p.V258Ac.773T>CSubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.?c.146+1G>AUnknown
DNAH8ENSG00000124721ENST00000359357p.D1795Nc.5383G>ASubstitution - Missense
MDFIENSG00000112559ENST00000373051p.S104Sc.312T>CSubstitution - coding silent
MDFIENSG00000112559ENST00000373051p.I222Ic.666C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.P1288Hc.3863C>ASubstitution - Missense
VKORC1L1ENSG00000196715ENST00000360768p.Q98*c.292C>TSubstitution - Nonsense
ZNF138ENSG00000197008ENST00000494380p.S78Nc.233G>ASubstitution - Missense
RAC1ENSG00000136238ENST00000348035p.L177Vc.529C>GSubstitution - Missense
TBL2ENSG00000106638ENST00000305632p.R360Wc.1078C>TSubstitution - Missense
FZD9ENSG00000188763ENST00000344575p.T399Tc.1197G>ASubstitution - coding silent
CDKN2AENSG00000147889ENST00000498124p.?c.457+2T>CUnknown
CDKN2AENSG00000147889ENST00000446177p.?c.457+2T>CUnknown
MED12ENSG00000184634ENST00000374080p.D385fs*139c.1153_1159delGATAGCADeletion - Frameshift
IZUMO4ENSG00000099840ENST00000395301p.S124Nc.371G>ASubstitution - Missense
ENST00000300960p.S124Nc.371G>ASubstitution - Missense
IGFL4ENSG00000204869ENST00000377697p.S79Sc.237T>CSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.S2042Sc.6126T>CSubstitution - coding silent
PIK3R5ENSG00000141506ENST00000447110p.S381*c.1142C>GSubstitution - Nonsense
CEP192ENSG00000101639ENST00000506447p.?c.4822+7T>CUnknown
CEP192ENSG00000101639ENST00000325971p.?c.3034+7T>CUnknown
PIEZO2ENSG00000154864ENST00000302079p.S331Sc.993G>ASubstitution - coding silent
ENST00000424015p.L174Vc.520C>GSubstitution - Missense
PTPRHENSG00000080031ENST00000376350p.C242Cc.726C>TSubstitution - coding silent
TPX2ENSG00000088325ENST00000300403p.K512Ec.1534A>GSubstitution - Missense
POTEHENSG00000198062ENST00000343518p.P168Lc.503C>TSubstitution - Missense
C21orf58ENSG00000160298ENST00000291691p.A41Tc.121G>ASubstitution - Missense
PCNTENSG00000160299ENST00000359568p.E1233Ac.3698A>CSubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.Q466Qc.1398A>GSubstitution - coding silent
PRKRAENSG00000180228ENST00000325748p.Q271Ec.811C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L26065Lc.78195A>TSubstitution - coding silent
ENST00000356127p.L26063Lc.78189A>TSubstitution - coding silent
ENST00000356127p.P9016Pc.27048T>GSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.S1063Fc.3188C>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.Q1144Qc.3432G>ASubstitution - coding silent
VWA3BENSG00000168658ENST00000477737p.Q559Qc.1677A>GSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.N769Nc.2307C>TSubstitution - coding silent
SEC13ENSG00000157020ENST00000350697p.S292Lc.875C>TSubstitution - Missense
ZSCAN10ENSG00000130182ENST00000252463p.G243Ac.728G>CSubstitution - Missense
EMC8ENSG00000131148ENST00000253457p.T7Ic.20C>TSubstitution - Missense
ENST00000570743p.K642*c.1924A>TSubstitution - Nonsense
ZNF432ENSG00000256087ENST00000221315p.S636delSc.1905_1907delCTCDeletion - In frame
VN1R2ENSG00000196131ENST00000341702p.L63Fc.187C>TSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.Q583Qc.1749A>GSubstitution - coding silent
ZNF766ENSG00000196214ENST00000439461p.L174Lc.522G>TSubstitution - coding silent
PRKCGENSG00000126583ENST00000263431p.A217Ac.651C>TSubstitution - coding silent
PRKCGENSG00000126583ENST00000540413p.A217Ac.651C>TSubstitution - coding silent
OGFRENSG00000060491ENST00000370461p.H7Qc.21C>GSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.?c.9361-5C>TUnknown
RTEL1ENSG00000258366ENST00000370018p.G410Cc.1228G>TSubstitution - Missense
ENST00000370006p.H106_C113delHATHNRACc.313_336del24Deletion - In frame
ADRBK2ENSG00000100077ENST00000324198p.P473Sc.1417C>TSubstitution - Missense
ADRBK2ENSG00000100077ENST00000324198p.K644Nc.1932G>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.L510Qc.1529T>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.L492Qc.1475T>ASubstitution - Missense
XBP1ENSG00000100219ENST00000216037p.E129Qc.385G>CSubstitution - Missense
XBP1ENSG00000100219ENST00000344347p.E129Qc.385G>CSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.R1638Qc.4913G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.R1638Qc.4913G>ASubstitution - Missense
MPV17ENSG00000115204ENST00000405983p.A112Tc.334G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2487Sc.7461G>CSubstitution - coding silent
ENST00000405167p.S2487Sc.7461G>CSubstitution - coding silent
ENST00000405167p.P3456Sc.10366C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2239Ic.6716C>TSubstitution - Missense
ENST00000405167p.P2368Rc.7103C>GSubstitution - Missense
ENST00000311566p.E24Dc.72A>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.L589Qc.1766T>ASubstitution - Missense
ZNF385DENSG00000151789ENST00000281523p.T158Tc.474G>ASubstitution - coding silent
LHFPL4ENSG00000156959ENST00000287585p.L134Mc.400T>ASubstitution - Missense
FILIP1LENSG00000168386ENST00000354552p.E728Kc.2182G>ASubstitution - Missense
FILIP1LENSG00000168386ENST00000331335p.E728Kc.2182G>ASubstitution - Missense
TET2ENSG00000168769ENST00000305737p.R814Cc.2440C>TSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.E1949Ec.5847A>GSubstitution - coding silent
BDH2ENSG00000164039ENST00000296424p.I129delIc.386_388delTCADeletion - In frame
OSTCENSG00000198856ENST00000361564p.?c.140-5T>AUnknown
FAM175AENSG00000163322ENST00000321945p.Y219Cc.656A>GSubstitution - Missense
HTRA3ENSG00000170801ENST00000307358p.E390Ec.1170G>ASubstitution - coding silent
GAKENSG00000178950ENST00000314167p.Y338Yc.1014C>TSubstitution - coding silent
ADAM18ENSG00000168619ENST00000265707p.?c.1526-3A>GUnknown
NM_006904p.S2533*c.7598C>GSubstitution - Nonsense
OTTHUMT00000056248.1p.?c.2308-2A>TUnknown
BCORENSG00000183337ENST00000378444p.S263Sc.789A>CSubstitution - coding silent
ENST00000331986p.T6846Ic.20537C>TSubstitution - Missense
PRPF8ENSG00000174231ENST00000304992p.A930Ac.2790C>TSubstitution - coding silent
SMCR8ENSG00000176994ENST00000406438p.A649Tc.1945G>ASubstitution - Missense
FLIIENSG00000177731ENST00000327031p.K870Tc.2609A>CSubstitution - Missense
ENST00000293218_v68p.C166Fc.497G>TSubstitution - Missense
UNKENSG00000132478ENST00000293218p.C90Fc.269G>TSubstitution - Missense
SENP3ENSG00000161956ENST00000429205p.V340Vc.1020A>GSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.V1139Gc.3416T>GSubstitution - Missense
EFNB3ENSG00000108947ENST00000226091p.H194Hc.582C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.T1359Ic.4076C>TSubstitution - Missense
ENST00000300671p.R1785Cc.5353C>TSubstitution - Missense
ENST00000300671p.V1340Vc.4020G>ASubstitution - coding silent
TK1ENSG00000167900ENST00000301634p.R186Rc.558G>TSubstitution - coding silent
ENSG00000178404ENST00000322630p.R86Qc.257G>ASubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.P157Tc.469C>ASubstitution - Missense
ZNF77ENSG00000175691ENST00000314531p.A276Sc.826G>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.S704Sc.2112G>CSubstitution - coding silent
BCAS1ENSG00000064787ENST00000395961p.K433fs*53c.1298_1302delAAAGADeletion - Frameshift
KANK1ENSG00000107104ENST00000382303p.?c.3697-10C>AUnknown
KANK1ENSG00000107104ENST00000382286p.?c.433-10C>AUnknown
APPL1ENSG00000157500ENST00000288266p.A394Ac.1182T>CSubstitution - coding silent
ADAMTS9ENSG00000163638ENST00000498707p.G1240Rc.3718G>ASubstitution - Missense
PNMA2ENSG00000240694ENST00000522362p.E231Ec.693A>GSubstitution - coding silent
MTDHENSG00000147649ENST00000336273p.N403Nc.1209T>CSubstitution - coding silent
ENST00000375112p.I96_V97>Mc.288_290delAGTComplex - deletion inframe
MARCH10ENSG00000173838ENST00000311269p.T599Tc.1797A>GSubstitution - coding silent
CBX2ENSG00000173894ENST00000310942p.R247Wc.739C>TSubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.N179Sc.536A>GSubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.?c.1102_1104-3del1078Unknown
FOXK2ENSG00000141568ENST00000335255p.?c.1575_1577-3del862Unknown
OGFOD3ENSG00000181396ENST00000329197p.I125Ic.375T>CSubstitution - coding silent
OGFOD3ENSG00000181396ENST00000313056p.I125Ic.375T>CSubstitution - coding silent
SLC16A3ENSG00000141526ENST00000392341p.A37Ac.111C>TSubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.E69Kc.205G>ASubstitution - Missense
DNM2ENSG00000079805ENST00000359692p.?c.1558-7C>AUnknown
TNPO2ENSG00000105576ENST00000441499p.W370*c.1110G>ASubstitution - Nonsense
MX1ENSG00000157601ENST00000398598p.I346Vc.1036A>GSubstitution - Missense
ENST00000380102_v68p.C161Cc.483T>CSubstitution - coding silent
KRTAP10-2ENSG00000205445ENST00000391621p.L43Lc.129G>ASubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.G382Rc.1144G>ASubstitution - Missense
ENST00000420871_v68p.R980Sc.2940A>TSubstitution - Missense
IMMTENSG00000132305ENST00000410111p.A615Ac.1845T>CSubstitution - coding silent
EPHA3ENSG00000044524ENST00000452448p.S452Sc.1356C>TSubstitution - coding silent
CDKL2ENSG00000138769ENST00000429927p.V304Ac.911T>CSubstitution - Missense
G3BP2ENSG00000138757ENST00000395719p.?c.352-10T>CUnknown
ROGDIENSG00000067836ENST00000322048p.?c.823-10C>TUnknown
GPR179ENSG00000188888ENST00000342292p.M1517Ic.4551G>ASubstitution - Missense
CNGA1ENSG00000198515ENST00000358519p.I396Tc.1187T>CSubstitution - Missense
NIPAL1ENSG00000163293ENST00000295461p.C31Rc.91T>CSubstitution - Missense
NICN1ENSG00000145029ENST00000273598p.H69Hc.207C>TSubstitution - coding silent
ACY1ENSG00000243989ENST00000404366p.E299Kc.895G>ASubstitution - Missense
BTN3A1ENSG00000026950ENST00000289361p.T506Mc.1517C>TSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.?c.4033-3C>TUnknown
MGAMENSG00000257335ENST00000549489p.I526Vc.1576A>GSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.I526Vc.1576A>GSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.I526Vc.1576A>GSubstitution - Missense
PLECENSG00000178209ENST00000322810p.A2774Ac.8322G>ASubstitution - coding silent
PLECENSG00000178209ENST00000345136p.A2637Ac.7911G>ASubstitution - coding silent
PLECENSG00000178209ENST00000322810p.S2369Lc.7106C>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.S2259Lc.6776C>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.S2232Lc.6695C>TSubstitution - Missense
XKR9ENSG00000221947ENST00000408926p.D126fs*2c.373_376delATAGDeletion - Frameshift
PAG1ENSG00000076641ENST00000220597p.S67Nc.200G>ASubstitution - Missense
PI15ENSG00000137558ENST00000260113p.W256*c.768G>ASubstitution - Nonsense
RBM19ENSG00000122965ENST00000392561p.E486Kc.1456G>ASubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.G893Wc.2677G>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.C1544Yc.4631G>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.Q1925Hc.5775G>CSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.L590Lc.1770G>CSubstitution - coding silent
SNX27ENSG00000143376ENST00000368843p.D274Yc.820G>TSubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.S242Sc.726C>TSubstitution - coding silent
MAPKBP1ENSG00000137802ENST00000457542p.S920Cc.2759C>GSubstitution - Missense
DUOXA1ENSG00000140254ENST00000267803p.R306delRc.916_918delCGCDeletion - In frame
MAST2ENSG00000086015ENST00000361297p.E489Ec.1467G>ASubstitution - coding silent
SLC1A7ENSG00000162383ENST00000371494p.A467Ac.1401G>ASubstitution - coding silent
ADAMTS17ENSG00000140470ENST00000268070p.G655Sc.1963G>ASubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.L511Rc.1532T>GSubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.?c.569-8A>TUnknown
PTHLHENSG00000087494ENST00000201015p.L119Lc.357C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S333Fc.998C>TSubstitution - Missense
SPPL2AENSG00000138600ENST00000261854p.G411Gc.1233A>TSubstitution - coding silent
GTF2A2ENSG00000140307ENST00000396061p.?c.305-9G>AUnknown
CHORDC1ENSG00000110172ENST00000320585p.P252Sc.754C>TSubstitution - Missense
AACSENSG00000081760ENST00000316519p.S400Cc.1198A>TSubstitution - Missense
MMP17ENSG00000198598ENST00000360564p.D432Dc.1296C>TSubstitution - coding silent
NM_016155.3p.G432Gc.1296C>TSubstitution - coding silent
GPR133ENSG00000111452ENST00000261654p.S191Sc.573T>CSubstitution - coding silent
OR2G6ENSG00000188558ENST00000343414p.C50Fc.149G>TSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.L185Wc.554T>GSubstitution - Missense
C1orf168ENSG00000187889ENST00000343433p.?c.1543+10G>AUnknown
CYP2J2ENSG00000134716ENST00000371204p.E368Qc.1102G>CSubstitution - Missense
PDE4BENSG00000184588ENST00000423207p.?c.702+10G>TUnknown
PDE4BENSG00000184588ENST00000371045p.?c.231+10G>TUnknown
WDR63ENSG00000162643ENST00000294664p.S864Nc.2591G>ASubstitution - Missense
GPR135ENSG00000181619ENST00000395116p.V314Mc.940G>ASubstitution - Missense
TMEM260ENSG00000070269ENST00000261556p.P597Qc.1790C>ASubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.N403Yc.1207A>TSubstitution - Missense
PPM1AENSG00000100614ENST00000325642p.H279Yc.835C>TSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.I772Lc.2314A>TSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.I772Lc.2314A>TSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.F130Fc.390C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000375608p.F156Fc.468C>TSubstitution - coding silent
F10ENSG00000126218ENST00000375559p.T399Ic.1196C>TSubstitution - Missense
MEIS2ENSG00000134138ENST00000424352p.L312fs*11c.934_937delTTAGDeletion - Frameshift
TYRO3ENSG00000092445ENST00000263798p.I789Ic.2367C>TSubstitution - coding silent
NM_006293p.I781Ic.2343C>TSubstitution - coding silent
PKD1L2ENSG00000166473ENST00000525539p.Y1221Fc.3662A>TSubstitution - Missense
SPNS3ENSG00000182557ENST00000355530p.T159Ic.476C>TSubstitution - Missense
CRISPLD2ENSG00000103196ENST00000262424p.R473Rc.1419G>ASubstitution - coding silent
USP10ENSG00000103194ENST00000219473p.I113Ic.339C>TSubstitution - coding silent
RSAD1ENSG00000136444ENST00000258955p.Q89Qc.267A>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S677Fc.2030C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S677Fc.2030C>TSubstitution - Missense
FAM171BENSG00000144369ENST00000304698p.?c.472+1G>AUnknown
PTH2RENSG00000144407ENST00000272847p.F141Vc.421T>GSubstitution - Missense
NM_006904p.I363Ic.1089C>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.I363Ic.1089C>TSubstitution - coding silent
MRPL15ENSG00000137547ENST00000260102p.N170Hc.508A>CSubstitution - Missense
DCAF12L2ENSG00000198354ENST00000360028p.L239Lc.717C>TSubstitution - coding silent
DCAF12L2ENSG00000198354ENST00000538699p.L239Lc.717C>TSubstitution - coding silent
MZF1ENSG00000099326ENST00000215057p.P596Lc.1787C>TSubstitution - Missense
FAM9CENSG00000187268ENST00000380625p.A2Vc.5C>TSubstitution - Missense
CD70ENSG00000125726ENST00000245903p.I153Vc.457A>GSubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.A556Sc.1666G>TSubstitution - Missense
ENST00000327607p.Q62*c.184C>TSubstitution - Nonsense
LRRC8EENSG00000171017ENST00000306708p.F719Fc.2157C>TSubstitution - coding silent
ENSG00000183248ENST00000539422p.Q792*c.2374C>TSubstitution - Nonsense
MUC16ENSG00000181143ENST00000397910p.T11213Ic.33638C>TSubstitution - Missense
WHAMMENSG00000156232ENST00000286760p.I295Tc.884T>CSubstitution - Missense
LAMTOR1ENSG00000149357ENST00000278671p.N39Ic.116A>TSubstitution - Missense
UVRAGENSG00000198382ENST00000356136p.M458Tc.1373T>CSubstitution - Missense
FRMD4AENSG00000151474ENST00000357447p.G888_D889insGc.2665_2666insGCGInsertion - In frame
FRMD4AENSG00000151474ENST00000357447p.R464Cc.1390C>TSubstitution - Missense
OR4K13ENSG00000176253ENST00000315693p.P129Hc.386C>ASubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.?c.41-9C>GUnknown
DAGLAENSG00000134780ENST00000257215p.L40Lc.120C>TSubstitution - coding silent
DAGLAENSG00000134780ENST00000257215p.L840Lc.2520G>TSubstitution - coding silent
MYRFENSG00000124920ENST00000327797p.D447Nc.1339G>ASubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.G2644Gc.7932C>TSubstitution - coding silent
C11orf24ENSG00000171067ENST00000304271p.T135_P147>11c.403_441>33Unknown
SHANK2ENSG00000162105ENST00000338508p.G45Gc.135C>TSubstitution - coding silent
ADRB1ENSG00000043591ENST00000369295p.A84Pc.250G>CSubstitution - Missense
HABP2ENSG00000148702ENST00000351270p.S28Sc.84T>GSubstitution - coding silent
SEC31BENSG00000075826ENST00000370345p.D633Gc.1898A>GSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.F165Ic.493T>ASubstitution - Missense
GNPTABENSG00000111670ENST00000549940p.L486Fc.1456C>TSubstitution - Missense
CLEC1BENSG00000165682ENST00000298527p.T206Sc.617C>GSubstitution - Missense
ABCD2ENSG00000173208ENST00000308666p.N6Kc.18T>GSubstitution - Missense
C12orf5ENSG00000078237ENST00000179259p.E71Ec.213G>ASubstitution - coding silent
KDM5AENSG00000073614ENST00000399788p.S803Sc.2409C>TSubstitution - coding silent
NM_005056.1p.S803Sc.2409C>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.W128Rc.382T>CSubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.C424Yc.1271G>ASubstitution - Missense
AMER2ENSG00000165566ENST00000357816p.D365Gc.1094A>GSubstitution - Missense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
ZAR1LENSG00000189167ENST00000345108p.A207Ac.621C>ASubstitution - coding silent
USPL1ENSG00000132952ENST00000255304p.L747Lc.2241G>CSubstitution - coding silent
NBEAENSG00000172915ENST00000379922p.?c.289-9C>AUnknown
FMO3ENSG00000007933ENST00000367755p.P282Sc.844C>TSubstitution - Missense
PROSER1ENSG00000120685ENST00000352251p.H133Yc.397C>TSubstitution - Missense
DLGAP3ENSG00000116544ENST00000373347p.S308Lc.923C>TSubstitution - Missense
ZMYM6ENSG00000163867ENST00000357182p.A659Ac.1977A>GSubstitution - coding silent
NM_004667.3p.G2615Rc.7843G>CSubstitution - Missense
ACRBPENSG00000111644ENST00000229243p.L380Fc.1140G>TSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.Q173fs*46c.517delCDeletion - Frameshift
TMPRSS5ENSG00000166682ENST00000299882p.Q173fs*46c.517delCDeletion - Frameshift
MUC6ENSG00000184956ENST00000421673p.G1887Ec.5660G>ASubstitution - Missense
TRPC6ENSG00000137672ENST00000344327p.K808Nc.2424G>CSubstitution - Missense
GRIA4ENSG00000152578ENST00000282499p.S892Lc.2675C>TSubstitution - Missense
ATMENSG00000149311ENST00000278616p.I2606Vc.7816A>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.I2606Vc.7816A>GSubstitution - Missense
CD44ENSG00000026508ENST00000428726p.S615Sc.1845C>GSubstitution - coding silent
KIAA1549LENSG00000110427ENST00000265654p.T1200Tc.3600G>ASubstitution - coding silent
CLCC1ENSG00000121940ENST00000369971p.D390Hc.1168G>CSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.D340Hc.1018G>CSubstitution - Missense
GNAT2ENSG00000134183ENST00000351050p.N241Nc.723T>CSubstitution - coding silent
B3GALT2ENSG00000162630ENST00000367434p.I327Sc.980T>GSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.?c.1022-10C>TUnknown
SLC39A12ENSG00000148482ENST00000377369p.I167Mc.501C>GSubstitution - Missense
SLC39A12ENSG00000148482ENST00000377374p.I167Mc.501C>GSubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.I397delIc.1189_1191delATTDeletion - In frame
NM_014381.1p.I397delIc.1189_1191delATTDeletion - In frame
YLPM1ENSG00000119596ENST00000325680p.Q476Qc.1428G>ASubstitution - coding silent
FURINENSG00000140564ENST00000268171p.R683Qc.2048G>ASubstitution - Missense
SYNMENSG00000182253ENST00000328642p.S1230Tc.3688T>ASubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.E752Dc.2256A>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.N815Nc.2445C>TSubstitution - coding silent
ENST00000417177p.N820Nc.2460C>TSubstitution - coding silent
NUDT22ENSG00000149761ENST00000279206p.P76Pc.228A>CSubstitution - coding silent
PLCB3ENSG00000149782ENST00000279230p.S297Rc.889A>CSubstitution - Missense
PACS1ENSG00000175115ENST00000320580p.I258Vc.772A>GSubstitution - Missense
COL9A2ENSG00000049089ENST00000372748p.A501Ac.1503C>ASubstitution - coding silent
NM_006218.1p.H1047Rc.3140A>GSubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.H1047Rc.3140A>GSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.672+1G>AUnknown
VPS13AENSG00000197969ENST00000376634p.?c.9190-8T>CUnknown
ACO1ENSG00000122729ENST00000379923p.T69Tc.207G>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.R834Qc.2501G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.R834Qc.2501G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.Q83Ec.247C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.V1256Lc.3766G>TSubstitution - Missense
ENST00000341338_v68p.Q89Qc.267G>ASubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.R2247Rc.6739C>ASubstitution - coding silent
PTPRJENSG00000149177ENST00000418331p.E336Dc.1008G>TSubstitution - Missense
USP31ENSG00000103404ENST00000219689p.K216Nc.648G>TSubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.A263Tc.787G>ASubstitution - Missense
COLEC11ENSG00000118004ENST00000236693p.F211Fc.633C>TSubstitution - coding silent
COLEC11ENSG00000118004ENST00000418971p.F228Fc.684C>TSubstitution - coding silent
PDGFCENSG00000145431ENST00000502773p.V297Ic.889G>ASubstitution - Missense
OR4D5ENSG00000171014ENST00000307033p.M81Ic.243G>TSubstitution - Missense
ZIC3ENSG00000156925ENST00000287538p.C302Cc.906C>TSubstitution - coding silent
NM_152274.2p.I87Ic.261C>TSubstitution - coding silent
CD200ENSG00000091972ENST00000473539p.F176Lc.528C>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.C2104Cc.6312C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.C1920Cc.5760C>TSubstitution - coding silent
WNT2ENSG00000105989ENST00000265441p.N353Nc.1059C>TSubstitution - coding silent
TNFRSF8ENSG00000120949ENST00000263932p.S369Sc.1107C>TSubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.R638*c.1912C>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.S2106Yc.6317C>ASubstitution - Missense
ENST00000405167p.P1616Sc.4846C>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.M4019Vc.12055A>GSubstitution - Missense
MXI1ENSG00000119950ENST00000332674p.P28Rc.83C>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S3822Pc.11464T>CSubstitution - Missense
CYP1A2ENSG00000140505ENST00000343932p.T284Tc.852G>ASubstitution - coding silent
PMLENSG00000140464ENST00000268059p.P624Sc.1870C>TSubstitution - Missense
LOXL1ENSG00000129038ENST00000261921p.R494Rc.1482C>GSubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.L452Lc.1356G>ASubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.?c.622-8C>GUnknown
GPC5ENSG00000179399ENST00000377067p.I207Lc.619A>CSubstitution - Missense
RBM26ENSG00000139746ENST00000267229p.D167Hc.499G>CSubstitution - Missense
UGGT2ENSG00000102595ENST00000376747p.?c.4402-1G>AUnknown
NBPF3ENSG00000142794ENST00000342104p.C337Rc.1009T>CSubstitution - Missense
CAPN8ENSG00000203697ENST00000366872p.A628Pc.1882G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R1129Qc.3386G>ASubstitution - Missense
SU_OBSCN.1p.R1129Qc.3386G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R1129Qc.3386G>ASubstitution - Missense
HTR7ENSG00000148680ENST00000336152p.L28Lc.84G>TSubstitution - coding silent
HTR7ENSG00000148680ENST00000371721p.L28Lc.84G>TSubstitution - coding silent
ENST00000349637p.E616Gc.1847A>GSubstitution - Missense
OR51F1ENSG00000188069ENST00000343430p.V247Vc.741G>ASubstitution - coding silent
PTPRJENSG00000149177ENST00000418331p.V852Vc.2556C>ASubstitution - coding silent
CELA2AENSG00000142615ENST00000359621p.S264Lc.791C>TSubstitution - Missense
FCRL4ENSG00000163518ENST00000271532p.G394Ac.1181G>CSubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.G931Vc.2792G>TSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
SU_OBSCN.1p.?c.10766-8C>TUnknown
OBSCNENSG00000154358ENST00000284548p.?c.10604-8C>TUnknown
OBSCNENSG00000154358ENST00000359599p.?c.11453-8C>TUnknown
EPHA8ENSG00000070886ENST00000166244p.M582Kc.1745T>ASubstitution - Missense
ARHGDIBENSG00000111348ENST00000228945p.L52Lc.156G>ASubstitution - coding silent
KCNA6ENSG00000151079ENST00000280684p.I178Vc.532A>GSubstitution - Missense
SPATS2ENSG00000123352ENST00000321898p.S507Pc.1519T>CSubstitution - Missense


COSMIC

4 mutations reported
1 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
NM_006218.1p.H1047Rc.3140A>GSubstitution - Missense18097548
CDKN2AENSG00000147889ENST00000304494p.?c.457+2T>CUnknown10694947
NM_006218.1p.H1047Rc.3140A>GSubstitution - Missense17052259
NM_006218.1p.H1047Rc.3140A>GSubstitution - Missense21227397