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SK-MEL-30 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1164 mutations reported
443 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
TCF4ENSG00000196628ENST00000356073p.D540Nc.1618G>ASubstitution - Missense
DQX1ENSG00000144045ENST00000393951p.F149Fc.447C>TSubstitution - coding silent
LLGL2ENSG00000073350ENST00000167462p.P433Sc.1297C>TSubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.L225Lc.675A>GSubstitution - coding silent
TBC1D24ENSG00000162065ENST00000567020p.Q301*c.901C>TSubstitution - Nonsense
FKBP15ENSG00000119321ENST00000238256p.T205Tc.615C>TSubstitution - coding silent
KHDC3LENSG00000203908ENST00000370367p.S159Lc.476C>TSubstitution - Missense
CAGE1ENSG00000164304ENST00000502583p.E251Kc.751G>ASubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.F149Lc.447C>GSubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.H487Rc.1460A>GSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.E3044Kc.9130G>ASubstitution - Missense
OR2A7ENSG00000243896ENST00000493325p.E307Gc.920A>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.W1272Rc.3814T>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.A1081Tc.3241G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.K301Rc.902A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Q547Qc.1641G>ASubstitution - coding silent
ENSG00000228259ENST00000425471p.D175Nc.523G>ASubstitution - Missense
NIFKENSG00000155438ENST00000285814p.Q248fs*6c.738_739insTCInsertion - Frameshift
NM_007027.2p.V54Vc.162A>GSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.D3344Ec.10032T>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.E1020Kc.3058G>ASubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.A851Tc.2551G>ASubstitution - Missense
C9orf153ENSG00000187753ENST00000376001p.D12Nc.34G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.P1394Pc.4182G>ASubstitution - coding silent
SAMD7ENSG00000187033ENST00000335556p.P116Sc.346C>TSubstitution - Missense
CYP4F8ENSG00000186526ENST00000325723p.L188Lc.564G>ASubstitution - coding silent
PHF1ENSG00000112511ENST00000374516p.C139Wc.417T>GSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.Q1554Qc.4662A>GSubstitution - coding silent
OCA2ENSG00000104044ENST00000354638p.D7Dc.21C>TSubstitution - coding silent
PLD5ENSG00000180287ENST00000536534p.S222Sc.666C>TSubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.L254Lc.762C>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.R757Cc.2269C>TSubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.S1121Fc.3362C>TSubstitution - Missense
ZNF98ENSG00000197360ENST00000357774p.H456Yc.1366C>TSubstitution - Missense
NM_016521.2p.G247Ec.740G>ASubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.P566Sc.1696C>TSubstitution - Missense
ZBP1ENSG00000124256ENST00000541799p.P122Sc.364C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.S234Yc.701C>ASubstitution - Missense
SLC13A2ENSG00000007216ENST00000444914p.L163Lc.489C>TSubstitution - coding silent
KIF13AENSG00000137177ENST00000378814p.K805Kc.2415A>GSubstitution - coding silent
UBN1ENSG00000118900ENST00000396658p.P1110Rc.3329C>GSubstitution - Missense
ARVCFENSG00000099889ENST00000263207p.L148Lc.442C>TSubstitution - coding silent
TCF4ENSG00000196628ENST00000398339p.D642Nc.1924G>ASubstitution - Missense
TRAT1ENSG00000163519ENST00000295756p.?c.303+3G>AUnknown
MUC20ENSG00000176945ENST00000447234p.T648Tc.1944G>ASubstitution - coding silent
CLASP2ENSG00000163539ENST00000539981p.R507Ic.1520G>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.M3590Ic.10770G>ASubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.V141Vc.423A>GSubstitution - coding silent
TTLL8ENSG00000138892ENST00000440475p.R536Cc.1606C>TSubstitution - Missense
PMM1ENSG00000100417ENST00000216259p.V247Vc.741G>ASubstitution - coding silent
EZH2ENSG00000106462ENST00000320356p.W629*c.1886G>ASubstitution - Nonsense
VARS2ENSG00000137411ENST00000321897p.R107*c.319C>TSubstitution - Nonsense
ARHGAP17ENSG00000140750ENST00000289968p.?c.853-2A>GUnknown
ENST00000317011_v70p.R23Rc.69G>ASubstitution - coding silent
KNDC1ENSG00000171798ENST00000368572p.N504Nc.1512C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.A1750Tc.5248G>ASubstitution - Missense
FAM49AENSG00000197872ENST00000381323p.?c.70+7T>GUnknown
OR1S1ENSG00000172774ENST00000309433p.N89Yc.265A>TSubstitution - Missense
TOMM40ENSG00000130204ENST00000592434p.S300Fc.899C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.T1360Ac.4078A>GSubstitution - Missense
TAS2R38ENSG00000257138ENST00000547270p.S259Lc.776C>TSubstitution - Missense
PODXLENSG00000128567ENST00000537928p.S238Sc.714G>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.R859Hc.2576G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.P2131Sc.6391C>TSubstitution - Missense
KRT28ENSG00000173908ENST00000306658p.S46Fc.137C>TSubstitution - Missense
CAP2ENSG00000112186ENST00000229922p.P258Lc.773C>TSubstitution - Missense
C11orf24ENSG00000171067ENST00000304271p.T294Tc.882C>TSubstitution - coding silent
ENST00000368089_v71p.P247Sc.739C>TSubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.?c.982-5C>AUnknown
LTBP2ENSG00000119681ENST00000261978p.G1390Ec.4169G>ASubstitution - Missense
NM_000036.1p.W455*c.1365G>ASubstitution - Nonsense
AP4B1ENSG00000134262ENST00000369569p.L240*c.719T>ASubstitution - Nonsense
FOXR1ENSG00000176302ENST00000317011p.R23Rc.69G>ASubstitution - coding silent
ATP2B4ENSG00000058668ENST00000367218p.Q927*c.2779C>TSubstitution - Nonsense
PTPRGENSG00000144724ENST00000474889p.E1188Kc.3562G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.K111Kc.333G>ASubstitution - coding silent
GABBR2ENSG00000136928ENST00000259455p.Q459*c.1375C>TSubstitution - Nonsense
HEATR3ENSG00000155393ENST00000299192p.P411Sc.1231C>TSubstitution - Missense
CREB3L2ENSG00000182158ENST00000452463p.F120Fc.360C>TSubstitution - coding silent
NLRP2ENSG00000022556ENST00000543010p.G216Sc.646G>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.T685Tc.2055T>CSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.G3526Rc.10576G>ASubstitution - Missense
GDPD4ENSG00000178795ENST00000315938p.E498Kc.1492G>ASubstitution - Missense
ENST00000319957p.D1006Nc.3016G>ASubstitution - Missense
G2E3ENSG00000092140ENST00000206595p.?c.363-2A>TUnknown
SLCO2B1ENSG00000137491ENST00000289575p.E26Qc.76G>CSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.R237Rc.711G>ASubstitution - coding silent
RGS7ENSG00000182901ENST00000366565p.K215Kc.645G>ASubstitution - coding silent
GABRA5ENSG00000186297ENST00000335625p.?c.1089+2T>AUnknown
KIF21BENSG00000116852ENST00000332129p.E430Kc.1288G>ASubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.E198Kc.592G>ASubstitution - Missense
SLC24A4ENSG00000140090ENST00000298877p.P382Sc.1144C>TSubstitution - Missense
GBP7ENSG00000213512ENST00000294671p.?c.1663-6T>AUnknown
ZBTB33ENSG00000177485ENST00000326624p.K500Rc.1499A>GSubstitution - Missense
NM_003319p.T71Sc.211A>TSubstitution - Missense
SPAG16ENSG00000144451ENST00000272898p.K190Kc.570A>GSubstitution - coding silent
ZNF724PENSG00000196081ENST00000418100p.G568Rc.1702G>CSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.F964Lc.2890T>CSubstitution - Missense
SLC13A2ENSG00000007216ENST00000314669p.L114Lc.342C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000328092p.L283Lc.849G>ASubstitution - coding silent
TPX2ENSG00000088325ENST00000300403p.?c.1946-1G>AUnknown
ACY1ENSG00000243989ENST00000458031p.R55Sc.165G>TSubstitution - Missense
CREB3L2ENSG00000182158ENST00000456390p.F120Fc.360C>TSubstitution - coding silent
OR5K3ENSG00000206536ENST00000383695p.G41Gc.123G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.L3366Ic.10096C>ASubstitution - Missense
REV1ENSG00000135945ENST00000258428p.?c.1952-5C>TUnknown
HUWE1ENSG00000086758ENST00000342160p.E1910Kc.5728G>ASubstitution - Missense
CLEC4FENSG00000152672ENST00000272367p.?c.1659-10C>TUnknown
ENST00000314395p.S102Lc.305C>TSubstitution - Missense
ENST00000356517_v68p.Y109fs*16c.323_327delTATATDeletion - Frameshift
STK11IPENSG00000144589ENST00000295641p.V841Ic.2521G>ASubstitution - Missense
ALG12ENSG00000182858ENST00000330817p.G350Rc.1048G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.N1830Nc.5490C>TSubstitution - coding silent
ENPP6ENSG00000164303ENST00000296741p.C429Cc.1287T>CSubstitution - coding silent
COLEC10ENSG00000184374ENST00000332843p.D81Nc.241G>ASubstitution - Missense
ATL2ENSG00000119787ENST00000419554p.?c.499-5C>TUnknown
PKHD1L1ENSG00000205038ENST00000378402p.G195Vc.584G>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.?c.2792-3C>TUnknown
LRRC8AENSG00000136802ENST00000372599p.T479Tc.1437A>GSubstitution - coding silent
GAPTENSG00000175857ENST00000396776p.S51Sc.153C>TSubstitution - coding silent
TCF4ENSG00000196628ENST00000544241p.D469Nc.1405G>ASubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.S451Lc.1352C>TSubstitution - Missense
ENST00000318252p.V1665Mc.4993G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.A1081Tc.3241G>ASubstitution - Missense
TAS1R2ENSG00000179002ENST00000375371p.V136Ac.407T>CSubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.E31Kc.91G>ASubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.S237Fc.710C>TSubstitution - Missense
NM_003319p.T71Ic.212C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T71Sc.211A>TSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.G710Dc.2129G>ASubstitution - Missense
ENST00000262017p.D135Nc.403G>ASubstitution - Missense
ERCC6L2ENSG00000182150ENST00000407474p.R495Kc.1484G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.L476Lc.1426C>TSubstitution - coding silent
SOGA1ENSG00000149639ENST00000237536p.L714Lc.2140C>TSubstitution - coding silent
TTI1ENSG00000101407ENST00000373448p.?c.2793+1G>TUnknown
NM_015461.1p.S526Ac.1576T>GSubstitution - Missense
NIPAL2ENSG00000104361ENST00000341166p.?c.656-4T>CUnknown
LTN1ENSG00000198862ENST00000361371p.L867Vc.2599C>GSubstitution - Missense
ENST00000400156_v68p.E160Kc.478G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.G1514Rc.4540G>ASubstitution - Missense
BBXENSG00000114439ENST00000325805p.R512Cc.1534C>TSubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.?c.1441-10C>TUnknown
CSMD1ENSG00000183117ENST00000537824p.I1222Ic.3666C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.G3365Dc.10094G>ASubstitution - Missense
ZNF675ENSG00000197372ENST00000359788p.G430Cc.1288G>TSubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.F296Fc.888C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.F8887Fc.26661C>TSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.Y1246Cc.3737A>GSubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.?c.3710+3T>CUnknown
ZNF500ENSG00000103199ENST00000219478p.P380Lc.1139C>TSubstitution - Missense
SCRT1ENSG00000170616ENST00000332135p.A284Ac.852C>TSubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.I829Rc.2486T>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E10164Kc.30490G>ASubstitution - Missense
AP3M2ENSG00000070718ENST00000396926p.R141*c.421C>TSubstitution - Nonsense
KIAA1841ENSG00000162929ENST00000295031p.E219Ec.657G>ASubstitution - coding silent
ENST00000328199_v68p.R97Gc.289C>GSubstitution - Missense
LHCGRENSG00000138039ENST00000294954p.R653Rc.1959G>ASubstitution - coding silent
SNTB2ENSG00000168807ENST00000336278p.V419Vc.1257G>ASubstitution - coding silent
RASL11BENSG00000128045ENST00000248706p.G40Gc.120C>ASubstitution - coding silent
SLC34A1ENSG00000131183ENST00000324417p.?c.644+6G>AUnknown
SLC25A27ENSG00000153291ENST00000371347p.H216Qc.648C>ASubstitution - Missense
BRSK2ENSG00000174672ENST00000308230p.?c.414-2A>CUnknown
CACNA1IENSG00000100346ENST00000336649p.M1736Ic.5208G>ASubstitution - Missense
SEMA4BENSG00000185033ENST00000379122p.A278Ac.834C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.I1222Ic.3666C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.S246Lc.737C>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.S447Lc.1340C>TSubstitution - Missense
IL25ENSG00000166090ENST00000329715p.R142Wc.424C>TSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.S1735Fc.5204C>TSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.K1536Nc.4608A>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.?c.1411+8G>AUnknown
GALNT9ENSG00000182870ENST00000397325p.V9Mc.25G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.P1311Sc.3931C>TSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.?c.1765-1G>AUnknown
SEMA4BENSG00000185033ENST00000332496p.A283Vc.848C>TSubstitution - Missense
CXCR5ENSG00000160683ENST00000292174p.G118Ec.353G>ASubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.E845Kc.2533G>ASubstitution - Missense
HCAR1ENSG00000196917ENST00000356987p.P87Pc.261C>TSubstitution - coding silent
TPTE2ENSG00000132958ENST00000390680p.F442Lc.1326T>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.F1074Sc.3221T>CSubstitution - Missense
ITPAENSG00000125877ENST00000380113p.A3Pc.7G>CSubstitution - Missense
CPNE1ENSG00000214078ENST00000317677p.S218Sc.654C>TSubstitution - coding silent
NOSIPENSG00000142546ENST00000391853p.R67Hc.200G>ASubstitution - Missense
CORO2AENSG00000106789ENST00000343933p.P276Pc.828C>TSubstitution - coding silent
SKOR2ENSG00000215474ENST00000425639p.R104Hc.311G>ASubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.E512Ec.1536G>ASubstitution - coding silent
ZSCAN5DENSG00000267908ENST00000600684p.P50Pc.150A>GSubstitution - coding silent
NEK10ENSG00000163491ENST00000429845p.V824Ic.2470G>ASubstitution - Missense
NM_152536.2p.?c.2431+7C>TUnknown
PDIA6ENSG00000143870ENST00000272227p.P99Lc.296C>TSubstitution - Missense
STYXL1ENSG00000127952ENST00000359697p.?c.698-6T>CUnknown
DMDENSG00000198947ENST00000357033p.L2023Rc.6068T>GSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.W506*c.1517G>ASubstitution - Nonsense
EYSENSG00000188107ENST00000370621p.S2226Ac.6676T>GSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.R1151Wc.3451C>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.R627Rc.1881C>ASubstitution - coding silent
GALNT10ENSG00000164574ENST00000425427p.G216Ec.647G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.S51Sc.153C>TSubstitution - coding silent
FAM131AENSG00000175182ENST00000383847p.A176Vc.527C>TSubstitution - Missense
CD2APENSG00000198087ENST00000359314p.D218Dc.654C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000377315p.?c.312+10A>GUnknown
NRASENSG00000213281ENST00000369535p.Q61Kc.181C>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.P114Lc.341C>TSubstitution - Missense
NKAIN3ENSG00000185942ENST00000523211p.A35Vc.104C>TSubstitution - Missense
NM_002837.2p.R529Qc.1586G>ASubstitution - Missense
PIK3AP1ENSG00000155629ENST00000339364p.R644Cc.1930C>TSubstitution - Missense
PLEKHH3ENSG00000068137ENST00000293349p.E394Dc.1182G>CSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.G693Gc.2079C>TSubstitution - coding silent
PCDHGB3ENSG00000262209ENST00000576222p.T138Sc.413C>GSubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.S239Fc.716C>TSubstitution - Missense
IL7ENSG00000104432ENST00000379113p.I16Ic.48C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.A2101Pc.6301G>CSubstitution - Missense
OR1B1ENSG00000171484ENST00000304833p.L168Fc.502C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.Q547Qc.1641G>ASubstitution - coding silent
ITPR2ENSG00000123104ENST00000242737p.T84Ic.251C>TSubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.I451Ic.1353C>TSubstitution - coding silent
LY75ENSG00000054219ENST00000263636p.W1336*c.4007G>ASubstitution - Nonsense
GPC5ENSG00000179399ENST00000377067p.D57Nc.169G>ASubstitution - Missense
OS9ENSG00000135506ENST00000315970p.L227Fc.679C>TSubstitution - Missense
BRSK2ENSG00000174672ENST00000382179p.?c.552-2A>CUnknown
INPP5FENSG00000198825ENST00000361976p.S407Lc.1220C>TSubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.W488*c.1464G>ASubstitution - Nonsense
CACNB2ENSG00000165995ENST00000377329p.?c.294+10A>GUnknown
PAPLNENSG00000100767ENST00000427855p.A337Ac.1011C>TSubstitution - coding silent
NNMTENSG00000166741ENST00000299964p.S87*c.260C>GSubstitution - Nonsense
PRG4ENSG00000116690ENST00000445192p.P773Tc.2317C>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.E937Kc.2809G>ASubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.G285Rc.853G>ASubstitution - Missense
ENST00000389961_v65p.E1249Kc.3745G>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.G3059Gc.9177G>ASubstitution - coding silent
SYCP2ENSG00000196074ENST00000357552p.R19Tc.56G>CSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.?c.435+6A>TUnknown
WSB1ENSG00000109046ENST00000262394p.V172Ac.515T>CSubstitution - Missense
SLC38A10ENSG00000157637ENST00000288439p.R737Wc.2209C>TSubstitution - Missense
CALCRENSG00000004948ENST00000359558p.R76*c.226C>TSubstitution - Nonsense
ENST00000356127p.D24641Nc.73921G>ASubstitution - Missense
ENST00000405167p.T1028Tc.3084C>TSubstitution - coding silent
ENST00000405167p.P1600Sc.4798C>TSubstitution - Missense
GADL1ENSG00000144644ENST00000282538p.E93Kc.277G>ASubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.E48_Q54delESPSSLQc.124_144del21Deletion - In frame
UGT1A8ENSG00000241635ENST00000373450p.K425Nc.1275A>CSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.I754Ic.2262C>ASubstitution - coding silent
NHSL2ENSG00000204131ENST00000540800p.P765Sc.2293C>TSubstitution - Missense
COMPENSG00000105664ENST00000222271p.T660Rc.1979C>GSubstitution - Missense
CDKN2AENSG00000147889ENST00000498124p.P114Lc.341C>TSubstitution - Missense
CAGE1ENSG00000164304ENST00000296742p.E115Kc.343G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.M1730Ic.5190G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.D368Nc.1102G>ASubstitution - Missense
EZH1ENSG00000108799ENST00000428826p.R708Rc.2124G>ASubstitution - coding silent
OTOL1ENSG00000182447ENST00000327928p.G386Gc.1158G>CSubstitution - coding silent
CTSLENSG00000135047ENST00000343150p.S326Lc.977C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.F1862Fc.5586C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.S2820Sc.8460C>TSubstitution - coding silent
FAM131AENSG00000175182ENST00000310585p.A145Vc.434C>TSubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417247p.R571Qc.1712G>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.I131Ic.393C>TSubstitution - coding silent
FICDENSG00000198855ENST00000552695p.Y400delYc.1193_1195delACTDeletion - In frame
CR1ENSG00000203710ENST00000367049p.P1515Hc.4544C>ASubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.V175Lc.523G>TSubstitution - Missense
SU_OBSCN.1p.?c.21687-4G>CUnknown
SPCS2ENSG00000118363ENST00000263672p.E109Dc.327G>CSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.N1689Nc.5067C>TSubstitution - coding silent
TDGENSG00000139372ENST00000392872p.P198Lc.593C>TSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.K215Kc.645G>ASubstitution - coding silent
PLD5ENSG00000180287ENST00000366545p.S130Sc.390C>TSubstitution - coding silent
NUDT13ENSG00000166321ENST00000357321p.L309Vc.925C>GSubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.E31Kc.91G>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.R677Qc.2030G>ASubstitution - Missense
TMEM135ENSG00000166575ENST00000305494p.?c.936+9T>GUnknown
MPHOSPH8ENSG00000196199ENST00000361479p.F59Fc.177C>TSubstitution - coding silent
SIRPB2ENSG00000196209ENST00000537284p.?c.37+5G>AUnknown
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
STAM2ENSG00000115145ENST00000263904p.V256Ic.766G>ASubstitution - Missense
UNC5AENSG00000113763ENST00000329542p.L558Fc.1672C>TSubstitution - Missense
ATL2ENSG00000119787ENST00000378954p.?c.499-5C>TUnknown
AP1G1ENSG00000166747ENST00000423132p.V330Mc.988G>ASubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.R6Qc.17G>ASubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.R86Qc.257G>ASubstitution - Missense
BCANENSG00000132692ENST00000361588p.I182Sc.545T>GSubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.V300fs*22c.897_898insTInsertion - Frameshift
PCED1BENSG00000179715ENST00000546455p.S111Lc.332C>TSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.L711Pc.2132T>CSubstitution - Missense
TRIM62ENSG00000116525ENST00000291416p.D411Nc.1231G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.?c.412-10C>TUnknown
HCAR1ENSG00000196917ENST00000356987p.P87Lc.260C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.14009-10C>TUnknown
NTF4ENSG00000225950ENST00000301411p.G72Dc.215G>ASubstitution - Missense
PTPDC1ENSG00000158079ENST00000375360p.Q242Qc.726G>ASubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
RBM47ENSG00000163694ENST00000381793p.G400Ec.1199G>ASubstitution - Missense
CADM2ENSG00000175161ENST00000383699p.E249delEc.743_745delAAGDeletion - In frame
TRAK2ENSG00000115993ENST00000332624p.K912Rc.2735A>GSubstitution - Missense
VITENSG00000205221ENST00000379242p.E282*c.844G>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.T1028Tc.3084C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.A590Tc.1768G>ASubstitution - Missense
ENST00000425471_v68p.D175Nc.523G>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.S523Lc.1568C>TSubstitution - Missense
SU_SPEGp.R3172Qc.9515G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.V116Fc.346G>TSubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.R47Rc.141G>ASubstitution - coding silent
ATP5IENSG00000169020ENST00000304312p.L54Pc.161T>CSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.?c.1696-4T>GUnknown
MAPKBP1ENSG00000137802ENST00000456763p.P1063Lc.3188C>TSubstitution - Missense
CPNE6ENSG00000100884ENST00000537691p.D436Nc.1306G>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.P122Sc.364C>TSubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.L518Fc.1552C>TSubstitution - Missense
ENST00000368148p.?c.531+1G>AUnknown
OR51E1ENSG00000180785ENST00000396952p.A122Tc.364G>ASubstitution - Missense
CPNE6ENSG00000100884ENST00000397016p.D381Nc.1141G>ASubstitution - Missense
FANCIENSG00000140525ENST00000310775p.?c.3350-7C>TUnknown
FANCIENSG00000140525ENST00000300027p.?c.3170-7C>TUnknown
GALNT9ENSG00000182870ENST00000535228p.V126Mc.376G>ASubstitution - Missense
RGS7ENSG00000182901ENST00000407727p.K215Kc.645G>ASubstitution - coding silent
PRPF19ENSG00000110107ENST00000227524p.R303Wc.907C>TSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
ACAP3ENSG00000131584ENST00000354980p.A663Ac.1989G>CSubstitution - coding silent
MAPKBP1ENSG00000137802ENST00000457542p.P1057Lc.3170C>TSubstitution - Missense
TPRENSG00000047410ENST00000367478p.A2045delAc.6132_6134delTGCDeletion - In frame
CRTC2ENSG00000160741ENST00000368633p.S405_T406insSSSSSc.1215_1216ins15Insertion - In frame
DDX11ENSG00000013573ENST00000407793p.V928Vc.2784C>TSubstitution - coding silent
OR2T6ENSG00000198104ENST00000355728p.S171fs*1c.510_552del43Deletion - Frameshift
PRAM1ENSG00000133246ENST00000423345p.L444Pc.1331T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D24643Nc.73927G>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.S258Fc.773C>TSubstitution - Missense
ZNF548ENSG00000188785ENST00000336128p.E322Dc.966G>CSubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.L357fs*40c.1068delCDeletion - Frameshift
TIAM2ENSG00000146426ENST00000318981p.T1331Ac.3991A>GSubstitution - Missense
KPNA4ENSG00000186432ENST00000334256p.?c.1373-5T>GUnknown
CCDC8ENSG00000169515ENST00000307522p.R50Cc.148C>TSubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.?c.571-8C>TUnknown
TIA1ENSG00000116001ENST00000433529p.?c.1035-7C>TUnknown
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
BARHL1ENSG00000125492ENST00000263610p.L267Lc.799C>TSubstitution - coding silent
KRT9ENSG00000171403ENST00000246662p.T453Tc.1359C>TSubstitution - coding silent
ITGA2BENSG00000005961ENST00000262407p.P972Sc.2914C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.S2820Sc.8460C>TSubstitution - coding silent
PSG5ENSG00000204941ENST00000342951p.R200Kc.599G>ASubstitution - Missense
TTPALENSG00000124120ENST00000262605p.R83Hc.248G>ASubstitution - Missense
B4GALT7ENSG00000027847ENST00000029410p.F221Lc.663C>ASubstitution - Missense
SLC34A1ENSG00000131183ENST00000324417p.F213Lc.637T>CSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.E937Kc.2809G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.Q547Qc.1641G>ASubstitution - coding silent
C9orf131ENSG00000174038ENST00000421362p.R943Kc.2828G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.T707Ac.2119A>GSubstitution - Missense
LRRIQ4ENSG00000188306ENST00000340806p.F527Fc.1581C>TSubstitution - coding silent
UNC13BENSG00000198722ENST00000396787p.S219Fc.656C>TSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.R747Qc.2240G>ASubstitution - Missense
PRH2ENSG00000134551ENST00000381847p.G127Ec.380G>ASubstitution - Missense
ENST00000357764p.G208Gc.624T>CSubstitution - coding silent
ENST00000328974p.S138Sc.414C>TSubstitution - coding silent
AP3B2ENSG00000103723ENST00000261722p.R127Cc.379C>TSubstitution - Missense
C1orf204ENSG00000188004ENST00000368102p.L137Lc.409C>TSubstitution - coding silent
ERHENSG00000100632ENST00000557016p.?c.4-8C>TUnknown
DAAM1ENSG00000100592ENST00000351081p.P556Sc.1666C>TSubstitution - Missense
MNAT1ENSG00000020426ENST00000261245p.P47Lc.140C>TSubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.F95Lc.285C>ASubstitution - Missense
ACEENSG00000159640ENST00000290863p.D632Dc.1896C>TSubstitution - coding silent
PIK3C3ENSG00000078142ENST00000262039p.K177Ec.529A>GSubstitution - Missense
GSDMBENSG00000073605ENST00000394175p.F315Fc.945C>TSubstitution - coding silent
SENP5ENSG00000119231ENST00000323460p.P75Pc.225C>TSubstitution - coding silent
SFI1ENSG00000198089ENST00000400288p.R606Tc.1817G>CSubstitution - Missense
DSPPENSG00000152591ENST00000399271p.D194Dc.582C>TSubstitution - coding silent
PRDM5ENSG00000138738ENST00000264808p.T538Ic.1613C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.P258Sc.772C>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.S672Cc.2015C>GSubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.G727Gc.2181G>ASubstitution - coding silent
ENST00000354783_v65p.F41Fc.123C>TSubstitution - coding silent
PGCENSG00000096088ENST00000373025p.P50Sc.148C>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.R2009Rc.6027A>TSubstitution - coding silent
FREM1ENSG00000164946ENST00000380894p.N366Nc.1098C>TSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.S819Sc.2457T>CSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.G2190Ec.6569G>ASubstitution - Missense
ENST00000405167p.A1750Tc.5248G>ASubstitution - Missense
ENST00000356127p.R6197Qc.18590G>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.I2329Tc.6986T>CSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.K464*c.1390A>TSubstitution - Nonsense
PRRX1ENSG00000116132ENST00000239461p.S200Nc.599G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.?c.412-10C>TUnknown
SRRM4ENSG00000139767ENST00000267260p.S568Nc.1703G>ASubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.S665Nc.1994G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.?c.4766-3C>TUnknown
GLULENSG00000135821ENST00000339526p.P146Lc.437C>TSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.A428Gc.1283C>GSubstitution - Missense
TCF12ENSG00000140262ENST00000438423p.S118Fc.353C>TSubstitution - Missense
HOOK1ENSG00000134709ENST00000371208p.?c.1846-10C>TUnknown
ZMYM5ENSG00000132950ENST00000337963p.F596Ic.1786T>ASubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.G285Rc.853G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.T71Sc.211A>TSubstitution - Missense
ZNF98ENSG00000197360ENST00000357774p.H456Yc.1366C>TSubstitution - Missense
ENST00000331986p.S6203Lc.18608C>TSubstitution - Missense
GDF5OSENSG00000204183ENST00000374375p.S209Fc.626C>TSubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.?c.5366+3T>CUnknown
EPB41L3ENSG00000082397ENST00000341928p.L637Hc.1910T>ASubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.H95Yc.283C>TSubstitution - Missense
ACTR3ENSG00000115091ENST00000263238p.D301Dc.903T>CSubstitution - coding silent
TULP1ENSG00000112041ENST00000229771p.G203Gc.609G>ASubstitution - coding silent
KIAA1586ENSG00000168116ENST00000370733p.T190Tc.570C>TSubstitution - coding silent
RIOK2ENSG00000058729ENST00000508447p.V438Vc.1314C>TSubstitution - coding silent
BACH2ENSG00000112182ENST00000257749p.P776Tc.2326C>ASubstitution - Missense
DHRS7CENSG00000184544ENST00000330255p.S17Sc.51C>TSubstitution - coding silent
ENST00000420275p.S26Fc.77C>TSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.L946Lc.2836C>TSubstitution - coding silent
ABHD14AENSG00000248487ENST00000273596p.A104Sc.310G>TSubstitution - Missense
SYN1ENSG00000008056ENST00000295987p.Y252Yc.756C>TSubstitution - coding silent
ENST00000318252p.A319Tc.955G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.S272Sc.816G>ASubstitution - coding silent
TREM2ENSG00000095970ENST00000373122p.?c.41-6C>TUnknown
XM_291321.3p.P396Sc.1186C>TSubstitution - Missense
CAGE1ENSG00000164304ENST00000338150p.E251Kc.751G>ASubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.H639Nc.1915C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.M1695Ic.5085G>ASubstitution - Missense
NAGLUENSG00000108784ENST00000225927p.?c.384-10C>GUnknown
SEPT8ENSG00000164402ENST00000296873p.R388Rc.1164C>TSubstitution - coding silent
TMEM245ENSG00000106771ENST00000374586p.A526Vc.1577C>TSubstitution - Missense
MFSD12ENSG00000161091ENST00000355415p.R479Wc.1435C>TSubstitution - Missense
OR2A2ENSG00000221989ENST00000408979p.D120Dc.360T>CSubstitution - coding silent
SLC2A11ENSG00000133460ENST00000398356p.G163Rc.487G>ASubstitution - Missense
OPN5ENSG00000124818ENST00000371211p.Q317fs*33c.950_954delAAACTDeletion - Frameshift
UBE2L6ENSG00000156587ENST00000287156p.R146*c.436C>TSubstitution - Nonsense
OR51A4ENSG00000205497ENST00000380373p.T139Rc.416C>GSubstitution - Missense
SEMA4BENSG00000185033ENST00000379122p.A278Vc.833C>TSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.E430Kc.1288G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.K78Rc.233A>GSubstitution - Missense
CYP8B1ENSG00000180432ENST00000316161p.I381Ic.1143C>TSubstitution - coding silent
CDKN2AENSG00000147889ENST00000446177p.P114Lc.341C>TSubstitution - Missense
ADCK3ENSG00000163050ENST00000366779p.L316Fc.946C>TSubstitution - Missense
TMEM63AENSG00000196187ENST00000366835p.?c.567-8C>TUnknown
PRKD1ENSG00000184304ENST00000331968p.L905Lc.2715C>TSubstitution - coding silent
PRKD1ENSG00000184304ENST00000331968p.L905Lc.2715C>TSubstitution - coding silent
TCN1ENSG00000134827ENST00000257264p.M133Ic.399G>ASubstitution - Missense
EXOC3L4ENSG00000205436ENST00000380069p.R31Qc.92G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.P911Sc.2731C>TSubstitution - Missense
DET1ENSG00000140543ENST00000564406p.A514Pc.1540G>CSubstitution - Missense
ENST00000393462p.S784_S785insRSc.2331_2332insAGCCGCInsertion - In frame
HYPKENSG00000242028ENST00000406925p.S72Fc.215C>TSubstitution - Missense
KCNJ10ENSG00000177807ENST00000368089p.P247Sc.739C>TSubstitution - Missense
PRRX1ENSG00000116132ENST00000367760p.R200Kc.599G>ASubstitution - Missense
NRASENSG00000213281ENST00000369535p.G60Gc.180A>TSubstitution - coding silent
ENSG00000230124ENST00000367595p.W99*c.296G>ASubstitution - Nonsense
IGSF21ENSG00000117154ENST00000251296p.?c.306-3C>AUnknown
ITPR2ENSG00000123104ENST00000381340p.T84Ic.251C>TSubstitution - Missense
ENST00000312528p.R119Sc.357G>TSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.E183Kc.547G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.T71Ic.212C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.T284fs*21c.851_852delCADeletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.P11694Lc.35081C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.S234Yc.701C>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.K805Kc.2415A>GSubstitution - coding silent
ENSG00000091436ENST00000338983p.I50Vc.148A>GSubstitution - Missense
IL7ENSG00000104432ENST00000263851p.I16Ic.48C>TSubstitution - coding silent
SYNJ2ENSG00000078269ENST00000355585p.D1395Nc.4183G>ASubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.F267Fc.801C>TSubstitution - coding silent
PRR5ENSG00000186654ENST00000403581p.I301Ic.903C>TSubstitution - coding silent
OBSL1ENSG00000124006ENST00000404537p.H1083Hc.3249C>TSubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000314319p.?c.1619-1G>AUnknown
TMEM245ENSG00000106771ENST00000374586p.?c.1321-9A>GUnknown
MICALL1ENSG00000100139ENST00000215957p.L199Lc.597C>TSubstitution - coding silent
GRAMD1AENSG00000089351ENST00000317991p.F393Fc.1179C>TSubstitution - coding silent
ARSIENSG00000183876ENST00000328668p.F557Fc.1671C>TSubstitution - coding silent
EZH2ENSG00000106462ENST00000350995p.W585*c.1754G>ASubstitution - Nonsense
PPP1R18ENSG00000146112ENST00000399199p.R612Rc.1836G>ASubstitution - coding silent
HS3ST2ENSG00000122254ENST00000261374p.R324*c.970C>TSubstitution - Nonsense
NEBENSG00000183091ENST00000427231p.S2820Sc.8460C>TSubstitution - coding silent
PIWIL3ENSG00000184571ENST00000332271p.E712Kc.2134G>ASubstitution - Missense
PLD5ENSG00000180287ENST00000427495p.S160Sc.480C>TSubstitution - coding silent
NM_032681.1p.T178Pc.532A>CSubstitution - Missense
BCL9LENSG00000186174ENST00000334801p.P450Pc.1350C>TSubstitution - coding silent
AP1G1ENSG00000166747ENST00000393512p.V330Mc.988G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000316664p.P372Sc.1114C>TSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.?c.710-8C>TUnknown
P2RY4ENSG00000186912ENST00000374519p.F110Fc.330C>TSubstitution - coding silent
OR6C65ENSG00000205328ENST00000379665p.A114Vc.341C>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.P1065Hc.3194C>ASubstitution - Missense
MGAT4CENSG00000182050ENST00000332156p.E134Kc.400G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.T516Tc.1548A>GSubstitution - coding silent
ZCCHC17ENSG00000121766ENST00000422613p.P128Sc.382C>TSubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.?c.1021-3C>TUnknown
IL15RAENSG00000134470ENST00000397255p.V248Vc.744G>ASubstitution - coding silent
TCF12ENSG00000140262ENST00000438423p.S118Fc.353C>TSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.G192Ac.575G>CSubstitution - Missense
C7ENSG00000112936ENST00000313164p.E720Kc.2158G>ASubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.P257Lc.770C>TSubstitution - Missense
NM_003954p.?c.1291-7C>TUnknown
XM_209363.4p.?c.748+5G>AUnknown
WDTC1ENSG00000142784ENST00000361771p.N428Nc.1284C>TSubstitution - coding silent
TFDP3ENSG00000183434ENST00000310125p.G307Ec.920G>ASubstitution - Missense
ENST00000331986p.P7327Lc.21980C>TSubstitution - Missense
TUBB1ENSG00000101162ENST00000217133p.E434Kc.1300G>ASubstitution - Missense
CEACAM18ENSG00000213822ENST00000396477p.D55Nc.163G>ASubstitution - Missense
SLC39A3ENSG00000141873ENST00000269740p.L299Lc.895C>TSubstitution - coding silent
MRPL35ENSG00000132313ENST00000337109p.K179Kc.537G>ASubstitution - coding silent
TRAK2ENSG00000115993ENST00000332624p.F620Sc.1859T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.D18271Nc.54811G>ASubstitution - Missense
ENSG00000091436ENST00000409176p.I50Vc.148A>GSubstitution - Missense
ENST00000405167p.P3366Tc.10096C>ASubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.Q1218*c.3652C>TSubstitution - Nonsense
SYN1ENSG00000008056ENST00000340666p.Y252Yc.756C>TSubstitution - coding silent
CAND2ENSG00000144712ENST00000456430p.S365Sc.1095G>ASubstitution - coding silent
SPTBN1ENSG00000115306ENST00000333896p.R1996Rc.5988A>TSubstitution - coding silent
XM_291321.3p.S592fs*11c.1773delCDeletion - Frameshift
RIOK2ENSG00000058729ENST00000283109p.V438Vc.1314C>TSubstitution - coding silent
ENST00000340515p.S283Sc.849C>TSubstitution - coding silent
FNIP1ENSG00000217128ENST00000510461p.Q372Qc.1116G>ASubstitution - coding silent
TMEM98ENSG00000006042ENST00000394642p.?c.264-6C>TUnknown
DLDENSG00000091140ENST00000205402p.S5Nc.14G>ASubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.S835fs*15c.2502_2504CTC>TTComplex - frameshift
CPAMD8ENSG00000160111ENST00000291440p.Q546*c.1636C>TSubstitution - Nonsense
LY75ENSG00000054219ENST00000263636p.G682Rc.2044G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000480013p.R504Ic.1511G>TSubstitution - Missense
HTRA3ENSG00000170801ENST00000382512p.N189Kc.567T>GSubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.R91Qc.272G>ASubstitution - Missense
VCAM1ENSG00000162692ENST00000294728p.M458Ic.1374G>ASubstitution - Missense
OR6K2ENSG00000196171ENST00000359610p.L139Lc.417A>CSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.G79Ec.236G>ASubstitution - Missense
EEF1GENSG00000254772ENST00000329251p.P284Pc.852C>ASubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.N598Kc.1794C>ASubstitution - Missense
AMICA1ENSG00000160593ENST00000356289p.R375Rc.1125G>ASubstitution - coding silent
ATP2B4ENSG00000058668ENST00000357681p.Q927*c.2779C>TSubstitution - Nonsense
SPTBENSG00000070182ENST00000389722p.T2072Tc.6216C>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.G1685Ac.5054G>CSubstitution - Missense
NM_015691.2p.S451Lc.1352C>TSubstitution - Missense
ENST00000356127p.T71Ic.212C>TSubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.R608Wc.1822C>TSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.F1231Fc.3693C>TSubstitution - coding silent
GSG2ENSG00000177602ENST00000325418p.G304Wc.910G>TSubstitution - Missense
GSG2ENSG00000177602ENST00000325418p.G304Wc.910G>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.G961Rc.2881G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.A590Tc.1768G>ASubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.P495Sc.1483C>TSubstitution - Missense
FKBP15ENSG00000119321ENST00000414250p.T230Tc.690C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
AQP7ENSG00000165269ENST00000379507p.K110Kc.330G>ASubstitution - coding silent
AQP7ENSG00000165269ENST00000539936p.K111Kc.333G>ASubstitution - coding silent
AQP7ENSG00000165269ENST00000379503p.K47Kc.141G>ASubstitution - coding silent
AQP7ENSG00000165269ENST00000541274p.K19Kc.57G>ASubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000409386p.A799Vc.2396C>TSubstitution - Missense
OR4K13ENSG00000176253ENST00000315693p.D70Nc.208G>ASubstitution - Missense
TTC9CENSG00000162222ENST00000316461p.Y124*c.372T>GSubstitution - Nonsense
OCA2ENSG00000104044ENST00000382996p.D7Dc.21C>TSubstitution - coding silent
GNPTABENSG00000111670ENST00000299314p.M107Vc.319A>GSubstitution - Missense
FLVCR2ENSG00000119686ENST00000238667p.L304Lc.912C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.?c.15325-5C>TUnknown
SPAG16ENSG00000144451ENST00000331683p.K190Kc.570A>GSubstitution - coding silent
CEP89ENSG00000121289ENST00000305768p.P190Sc.568C>TSubstitution - Missense
LOXL2ENSG00000134013ENST00000389131p.G267Sc.799G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.?c.5366+3T>CUnknown
SYNJ1ENSG00000159082ENST00000433931p.T1522Tc.4566C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.K78Rc.233A>GSubstitution - Missense
PPP1R7ENSG00000115685ENST00000407025p.E62Kc.184G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.D18338Nc.55012G>ASubstitution - Missense
ENST00000356127p.E10164Kc.30490G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1600Sc.4798C>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.D2554Nc.7660G>ASubstitution - Missense
NLRP13ENSG00000173572ENST00000342929p.T362Tc.1086G>ASubstitution - coding silent
ZFP62ENSG00000196670ENST00000512132p.A228Ac.684C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000418609p.G597Gc.1791C>TSubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.N537Sc.1610A>GSubstitution - Missense
C9orf153ENSG00000187753ENST00000339137p.D12Nc.34G>ASubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.R404Cc.1210C>TSubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.K333_A338delKDHKKAc.996_1013del18Deletion - In frame
MARVELD3ENSG00000140832ENST00000299952p.G355Rc.1063G>CSubstitution - Missense
B4GALT7ENSG00000027847ENST00000029410p.I271Ic.813C>TSubstitution - coding silent
TAF11ENSG00000064995ENST00000361288p.F129Lc.387C>ASubstitution - Missense
EEF1GENSG00000254772ENST00000378019p.P334Pc.1002C>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.?c.1086+7C>TUnknown
ABRAENSG00000174429ENST00000311955p.A37Ac.111G>ASubstitution - coding silent
PGS1ENSG00000087157ENST00000262764p.S273Fc.818C>TSubstitution - Missense
SFTPDENSG00000133661ENST00000372292p.L253Lc.759C>TSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000358657p.D1033Nc.3097G>ASubstitution - Missense
SLCO2B1ENSG00000137491ENST00000289575p.E26Ac.77A>CSubstitution - Missense
NM_000655.2p.W142*c.426G>ASubstitution - Nonsense
TTC18ENSG00000156042ENST00000355577p.I275Lc.823A>CSubstitution - Missense
DLSTENSG00000119689ENST00000334220p.?c.200-4C>TUnknown
ARHGAP22ENSG00000128805ENST00000249601p.R661Qc.1982G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.R4029Rc.12087G>ASubstitution - coding silent
ENST00000358254p.?c.523+1G>AUnknown
NM_003954p.?c.1291-8C>TUnknown
SLC9A1ENSG00000090020ENST00000263980p.H349Hc.1047C>TSubstitution - coding silent
PHF2ENSG00000197724ENST00000359246p.I306Ic.918C>TSubstitution - coding silent
CEP112ENSG00000154240ENST00000392769p.R608Wc.1822C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.S234Sc.702C>TSubstitution - coding silent
DCAF7ENSG00000136485ENST00000310827p.L95Lc.285C>TSubstitution - coding silent
C9orf131ENSG00000174038ENST00000312292p.R991Kc.2972G>ASubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.E326Dc.978A>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.D287Hc.859G>CSubstitution - Missense
ENST00000398685p.Y98Yc.294C>TSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.L955Fc.2863C>TSubstitution - Missense
TGM4ENSG00000163810ENST00000296125p.L456Fc.1366C>TSubstitution - Missense
FAM160A1ENSG00000164142ENST00000435205p.S826Sc.2478C>TSubstitution - coding silent
TFECENSG00000105967ENST00000265440p.I313Vc.937A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G429Rc.1285G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.P953Pc.2859C>TSubstitution - coding silent
SLC2A11ENSG00000133460ENST00000398356p.L210Lc.630C>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.P1455Lc.4364C>TSubstitution - Missense
MTSS1ENSG00000170873ENST00000518547p.P520Sc.1558C>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.Q1554Qc.4662A>GSubstitution - coding silent
ST6GALNAC4ENSG00000136840ENST00000335791p.A221Tc.661G>ASubstitution - Missense
ARPC5LENSG00000136950ENST00000353214p.L82Lc.246G>CSubstitution - coding silent
LCP2ENSG00000043462ENST00000046794p.?c.1100+3T>CUnknown
LCP2ENSG00000043462ENST00000046794p.?c.1100+3T>CUnknown
PKHD1ENSG00000170927ENST00000371117p.W1272Rc.3814T>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.D135Nc.403G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.V1936Mc.5806G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
KNDC1ENSG00000171798ENST00000368572p.N1565Kc.4695C>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.?c.291+10A>GUnknown
PIK3AP1ENSG00000155629ENST00000371109p.R243Cc.727C>TSubstitution - Missense
OR4C12ENSG00000221954ENST00000335238p.F209Fc.627C>TSubstitution - coding silent
ENST00000327733p.T337Pc.1009A>CSubstitution - Missense
UBE2L6ENSG00000156587ENST00000287156p.L145Lc.435C>TSubstitution - coding silent
GNPTABENSG00000111670ENST00000549940p.M107Vc.319A>GSubstitution - Missense
GDPD4ENSG00000178795ENST00000376217p.E498Kc.1492G>ASubstitution - Missense
BSCL2ENSG00000168000ENST00000433053p.F294Fc.882C>TSubstitution - coding silent
ITPR2ENSG00000123104ENST00000242737p.T84Tc.252C>TSubstitution - coding silent
ENST00000377560_v62p.?c.733-9C>TUnknown
WSCD2ENSG00000075035ENST00000261400p.I131Ic.393C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000457511p.F586Sc.1757T>CSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.H819Yc.2455C>TSubstitution - Missense
AP4B1ENSG00000134262ENST00000369566p.L147*c.440T>ASubstitution - Nonsense
SELLENSG00000188404ENST00000236147p.W155*c.465G>ASubstitution - Nonsense
SLC9A1ENSG00000090020ENST00000374086p.H349Hc.1047C>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000422171p.P113Pc.339C>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000422171p.R114Cc.340C>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.T516Tc.1548A>GSubstitution - coding silent
MARK3ENSG00000075413ENST00000429436p.?c.1483-6T>GUnknown
SERF2ENSG00000140264ENST00000594896p.S118Fc.353C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.?c.412-10C>TUnknown
AP1G1ENSG00000166747ENST00000433195p.V350Mc.1048G>ASubstitution - Missense
ZSCAN32ENSG00000140987ENST00000396852p.P477Lc.1430C>TSubstitution - Missense
NPLOC4ENSG00000182446ENST00000374747p.?c.435+6A>TUnknown
GCDHENSG00000105607ENST00000422947p.?c.1112-3C>TUnknown
KANK2ENSG00000197256ENST00000432929p.E569*c.1705G>TSubstitution - Nonsense
TSHZ1ENSG00000179981ENST00000580243p.E1065Kc.3193G>ASubstitution - Missense
CEP89ENSG00000121289ENST00000590597p.P190Sc.568C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000446217p.L311Lc.933G>ASubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359689p.P420Qc.1259C>ASubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.G29Ec.86G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.?c.2054-1G>AUnknown
SLC2A11ENSG00000133460ENST00000345044p.G156Rc.466G>ASubstitution - Missense
SLC2A11ENSG00000133460ENST00000345044p.L203Lc.609C>TSubstitution - coding silent
PDIA6ENSG00000143870ENST00000381611p.P104Lc.311C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.M1695Ic.5085G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.Q547Qc.1641G>ASubstitution - coding silent
ENST00000356127p.Q547Qc.1641G>ASubstitution - coding silent
NM_003319p.Q547Qc.1641G>ASubstitution - coding silent
UGT1A8ENSG00000241635ENST00000360418p.K428Nc.1284A>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.S523Lc.1568C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.G859Ac.2576G>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.T284fs*21c.851_852delCADeletion - Frameshift
ARRB1ENSG00000137486ENST00000393505p.?c.618+7G>AUnknown
BMPR1BENSG00000138696ENST00000440890p.S220Lc.659C>TSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.R357Wc.1069C>TSubstitution - Missense
SLC25A27ENSG00000153291ENST00000411689p.H216Qc.648C>ASubstitution - Missense
ENST00000425120p.H146Qc.438C>ASubstitution - Missense
PODXLENSG00000128567ENST00000541194p.S272Sc.816G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.G907Ac.2720G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.G867Ac.2600G>CSubstitution - Missense
PSMC3IPENSG00000131470ENST00000393795p.I93Vc.277A>GSubstitution - Missense
PSMC3IPENSG00000131470ENST00000253789p.I93Vc.277A>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.G907Ac.2720G>CSubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.G1038Rc.3112G>ASubstitution - Missense
ENST00000315066p.G303Rc.907G>ASubstitution - Missense
EZH1ENSG00000108799ENST00000428826p.R708Qc.2123G>ASubstitution - Missense
MPOENSG00000005381ENST00000225275p.L547Lc.1641C>TSubstitution - coding silent
MPOENSG00000005381ENST00000340482p.L579Lc.1737C>TSubstitution - coding silent
RABEP1ENSG00000029725ENST00000262477p.D320Ec.960T>GSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.F149Lc.447C>GSubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.H447Rc.1340A>GSubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.S1178_S1179insGSSSSc.3526_3527ins15Insertion - In frame
DIAPH1ENSG00000131504ENST00000398557p.P704Lc.2111C>TSubstitution - Missense
ENST00000576222_v68p.T138Sc.413C>GSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.R627Rc.1881C>ASubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.A788Vc.2363C>TSubstitution - Missense
SOHLH1ENSG00000165643ENST00000425225p.D367Nc.1099G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.F597Fc.1791C>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.F597Fc.1791C>TSubstitution - coding silent
EGLN2ENSG00000269858ENST00000303961p.K281Kc.843G>ASubstitution - coding silent
CYP2A13ENSG00000197838ENST00000330436p.L241Lc.723G>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.?c.2792-3C>TUnknown
SPANXCENSG00000198573ENST00000358993p.P64Sc.190C>TSubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.D426Dc.1278C>TSubstitution - coding silent
PCDHB12ENSG00000120328ENST00000239450p.F368Ic.1102T>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.R190Rc.570G>ASubstitution - coding silent
GALNT10ENSG00000164574ENST00000297107p.G216Ec.647G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.P1105Rc.3314C>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.P1105Rc.3314C>GSubstitution - Missense
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
DLDENSG00000091140ENST00000205402p.S5Nc.14G>ASubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.E108Kc.322G>ASubstitution - Missense
OR2A7ENSG00000243896ENST00000493325p.E307Gc.920A>GSubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.L369Lc.1105T>CSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.I2638Vc.7912A>GSubstitution - Missense
ENST00000319379p.I2583Vc.7747A>GSubstitution - Missense
ENST00000319379p.F1807Fc.5421C>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.?c.3962+3A>TUnknown
MARVELD3ENSG00000140832ENST00000299952p.G270Gc.810C>TSubstitution - coding silent
AP1G1ENSG00000166747ENST00000299980p.V327Mc.979G>ASubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.?c.853-2A>GUnknown
FSD1ENSG00000105255ENST00000221856p.P454Pc.1362G>ASubstitution - coding silent
PSG3ENSG00000221826ENST00000327495p.R220Rc.660G>ASubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.P1759Lc.5276C>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.P1367Lc.4100C>TSubstitution - Missense
ENST00000251268_v61p.P1826Lc.5477C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G501Ec.1502G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G429Ec.1286G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G501Rc.1501G>ASubstitution - Missense
PCIF1ENSG00000100982ENST00000372409p.R55Rc.165G>CSubstitution - coding silent
EYA2ENSG00000064655ENST00000327619p.G263Ec.788G>ASubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.S615Sc.1845C>TSubstitution - coding silent
ENST00000334436p.S518Sc.1554C>TSubstitution - coding silent
PLA2R1ENSG00000153246ENST00000283243p.W1173*c.3518G>ASubstitution - Nonsense
CYTIPENSG00000115165ENST00000264192p.R301Rc.903G>ASubstitution - coding silent
POLR2BENSG00000047315ENST00000381227p.A476Ac.1428G>ASubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.E404Ec.1212G>ASubstitution - coding silent
VIPR2ENSG00000106018ENST00000262178p.S185Cc.554C>GSubstitution - Missense
RBMS1ENSG00000153250ENST00000348849p.N159Dc.475A>GSubstitution - Missense
ENST00000392753_v71p.N159Dc.475A>GSubstitution - Missense
UGT1A4ENSG00000244474ENST00000373409p.K429Nc.1287A>CSubstitution - Missense
UGT1A3ENSG00000243135ENST00000482026p.K429Nc.1287A>CSubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.K428Nc.1284A>CSubstitution - Missense
UGT1A6ENSG00000167165ENST00000305139p.K427Nc.1281A>CSubstitution - Missense
KIAA1841ENSG00000162929ENST00000402291p.E219Ec.657G>ASubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.T570Ic.1709C>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.A133Tc.397G>ASubstitution - Missense
ENST00000358511_v70p.K350Nc.1050A>CSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.K350Nc.1050A>CSubstitution - Missense
NM_148674.1p.V116Fc.346G>TSubstitution - Missense
PRR5ENSG00000186654ENST00000336985p.I278Ic.834C>TSubstitution - coding silent
ARHGAP8ENSG00000241484ENST00000389774p.Y130Yc.390C>TSubstitution - coding silent
TTLL8ENSG00000138892ENST00000266182p.R556Cc.1666C>TSubstitution - Missense
TTLL8ENSG00000138892ENST00000433387p.R572Cc.1714C>TSubstitution - Missense
ZNF662ENSG00000182983ENST00000440367p.R37Gc.109C>GSubstitution - Missense
ENST00000328199_v68p.R97fs*25c.289_315>GAGGComplex - frameshift
ZNF662ENSG00000182983ENST00000440367p.R37fs*20c.109_135>GAGGComplex - frameshift
FYCO1ENSG00000163820ENST00000296137p.S3Sc.9C>TSubstitution - coding silent
PFKFB4ENSG00000114268ENST00000232375p.L324Fc.970C>TSubstitution - Missense
PFKFB4ENSG00000114268ENST00000232375p.V323Vc.969C>TSubstitution - coding silent
ENST00000238522p.A851Tc.2551G>ASubstitution - Missense
PGCENSG00000096088ENST00000425343p.P50Sc.148C>TSubstitution - Missense
APOBEC2ENSG00000124701ENST00000244669p.E206Kc.616G>ASubstitution - Missense
TREM2ENSG00000095970ENST00000373113p.?c.41-6C>TUnknown
TREM2ENSG00000095970ENST00000338469p.?c.41-6C>TUnknown
LRFN2ENSG00000156564ENST00000338305p.G581Dc.1742G>ASubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.G581Sc.1741G>ASubstitution - Missense
PRKRIP1ENSG00000128563ENST00000496391p.F79Fc.237C>TSubstitution - coding silent
ZNF117ENSG00000152926ENST00000282869p.G273Vc.818G>TSubstitution - Missense
ZNF92ENSG00000146757ENST00000328747p.E457Ac.1370A>CSubstitution - Missense
TROENSG00000067445ENST00000173898p.P1390Lc.4169C>TSubstitution - Missense
NHSL2ENSG00000204131ENST00000540800p.S961fs*11c.2880delCDeletion - Frameshift
ENST00000373468p.L1492Lc.4476C>TSubstitution - coding silent
TOMM40ENSG00000130204ENST00000252487p.S300Fc.899C>TSubstitution - Missense
AP2S1ENSG00000042753ENST00000263270p.V41Vc.123C>TSubstitution - coding silent
CCDC8ENSG00000169515ENST00000307522p.G49Gc.147C>TSubstitution - coding silent
EML2ENSG00000125746ENST00000245925p.?c.1255-4T>GUnknown
THSD7BENSG00000144229ENST00000272643p.?c.4467+2T>GUnknown
THSD7BENSG00000144229ENST00000413152p.?c.4374+2T>GUnknown
ENST00000409867_v68p.L124Lc.372C>TSubstitution - coding silent
ANKRD30BLENSG00000163046ENST00000409867p.L124Lc.372C>TSubstitution - coding silent
POU4F2ENSG00000151615ENST00000281321p.E105Ec.315G>ASubstitution - coding silent
CLGNENSG00000153132ENST00000325617p.P598Pc.1794G>ASubstitution - coding silent
FAM160A1ENSG00000164142ENST00000435205p.S826Sc.2478C>TSubstitution - coding silent
TERTENSG00000164362ENST00000310581p.?c.3296-4G>AUnknown
NM_198255.1p.?c.3260-4G>AUnknown
FNIP1ENSG00000217128ENST00000510461p.T167Nc.500C>ASubstitution - Missense
ZFYVE16ENSG00000039319ENST00000338008p.R1357Wc.4069C>TSubstitution - Missense
SERPINB2ENSG00000197632ENST00000299502p.W208*c.624G>ASubstitution - Nonsense
SYCP2LENSG00000153157ENST00000283141p.E710Ec.2130A>GSubstitution - coding silent
GCNT6ENSG00000205318ENST00000417671p.T111Tc.333G>ASubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.N537Sc.1610A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.E1692Kc.5074G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.E1652Kc.4954G>ASubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.T230Tc.690C>TSubstitution - coding silent
PALM2-AKAP2ENSG00000157654ENST00000374530p.A750Gc.2249C>GSubstitution - Missense
AKAP2ENSG00000241978ENST00000374525p.A608Gc.1823C>GSubstitution - Missense
THEMISENSG00000172673ENST00000368248p.?c.710-8C>TUnknown
HIVEP1ENSG00000095951ENST00000379388p.G1979Sc.5935G>ASubstitution - Missense
ALDH8A1ENSG00000118514ENST00000265605p.S184Sc.552A>GSubstitution - coding silent
SNAP91ENSG00000065609ENST00000369694p.?c.2526+7G>AUnknown
SNAP91ENSG00000065609ENST00000439399p.?c.2526+7G>AUnknown
ATAD5ENSG00000176208ENST00000321990p.S248Cc.743C>GSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.P776Tc.2326C>ASubstitution - Missense
SNX17ENSG00000115234ENST00000233575p.L346fs*9c.1035_1037CCT>TCComplex - frameshift
ALKENSG00000171094ENST00000389048p.P279Lc.836C>TSubstitution - Missense
ENST00000381954p.T459Tc.1377G>ASubstitution - coding silent
SENP5ENSG00000119231ENST00000323460p.L76Fc.226C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.P435Sc.1303C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.P372Sc.1114C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.P372Sc.1114C>TSubstitution - Missense
CRYBG3ENSG00000080200ENST00000182096p.L59Fc.175C>TSubstitution - Missense
SU_NEK10p.V824Ic.2470G>ASubstitution - Missense
NEK10ENSG00000163491ENST00000357467p.V221Ic.661G>ASubstitution - Missense
HTRA3ENSG00000170801ENST00000307358p.N189Kc.567T>GSubstitution - Missense
BMP3ENSG00000152785ENST00000282701p.W168*c.503G>ASubstitution - Nonsense
ENST00000318252p.I951Ic.2853C>TSubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.P334Lc.1001C>TSubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.H472Yc.1414C>TSubstitution - Missense
XM_497119.1p.E1773Kc.5317G>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.E512Ec.1536G>ASubstitution - coding silent
ZSCAN5DENSG00000267908ENST00000600684p.E51Kc.151G>ASubstitution - Missense
FUT3ENSG00000171124ENST00000303225p.D40Nc.118G>ASubstitution - Missense
NEURL4ENSG00000215041ENST00000399464p.L357fs*40c.1068delCDeletion - Frameshift
ASGR2ENSG00000161944ENST00000380952p.?c.353-4C>TUnknown
LLGL2ENSG00000073350ENST00000392550p.P433Sc.1297C>TSubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.I761Ic.2283C>TSubstitution - coding silent
NPAS2ENSG00000170485ENST00000335681p.P155Lc.464C>TSubstitution - Missense
NPAS2ENSG00000170485ENST00000542504p.P220Lc.659C>TSubstitution - Missense
ITGA9ENSG00000144668ENST00000264741p.L664Lc.1992C>TSubstitution - coding silent
CLASP2ENSG00000163539ENST00000333778p.R737Ic.2210G>TSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.R286Kc.857G>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.E711Kc.2131G>ASubstitution - Missense
BMPR1BENSG00000138696ENST00000515059p.S190Lc.569C>TSubstitution - Missense
BMPR1BENSG00000138696ENST00000515059p.S190Lc.569C>TSubstitution - Missense
ENST00000543338p.S709Cc.2126C>GSubstitution - Missense
APCENSG00000134982ENST00000457016p.G1339Rc.4015G>CSubstitution - Missense
TMEM232ENSG00000186952ENST00000455884p.V144Ic.430G>ASubstitution - Missense
TMEM232ENSG00000186952ENST00000429839p.V144Ic.430G>ASubstitution - Missense
DAPENSG00000112977ENST00000230895p.A73Ac.219G>ASubstitution - coding silent
RAB40CENSG00000197562ENST00000535977p.I112Ic.336C>ASubstitution - coding silent
CLEC4FENSG00000152672ENST00000272367p.T404Ic.1211C>TSubstitution - Missense
M1APENSG00000159374ENST00000290536p.I221Tc.662T>CSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.?c.3154+7C>TUnknown
PLSCR5ENSG00000231213ENST00000443512p.K175Ec.523A>GSubstitution - Missense
AADACL2ENSG00000197953ENST00000356517p.Y87fs*16c.257_261delTATATDeletion - Frameshift
MYOZ2ENSG00000172399ENST00000307128p.S101Lc.302C>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.P629Sc.1885C>TSubstitution - Missense
NMBRENSG00000135577ENST00000258042p.M303Ic.909G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.W506*c.1517G>ASubstitution - Nonsense
CA5BENSG00000169239ENST00000318636p.R27Kc.80G>ASubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.G276Sc.826G>ASubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.G276Sc.826G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.L2019Rc.6056T>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.L2019Rc.6056T>GSubstitution - Missense
ENST00000378682p.L682Rc.2045T>GSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.G534Gc.1602G>ASubstitution - coding silent
EPB41L5ENSG00000115109ENST00000263713p.M14Vc.40A>GSubstitution - Missense
EPB41L5ENSG00000115109ENST00000443124p.M14Vc.40A>GSubstitution - Missense
ATG9AENSG00000198925ENST00000396761p.T410Tc.1230C>TSubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.V841Ic.2521G>ASubstitution - Missense
SU_SPEGp.R3172Rc.9516G>ASubstitution - coding silent
PSMD1ENSG00000173692ENST00000308696p.R601Cc.1801C>TSubstitution - Missense
UGT1A10ENSG00000242515ENST00000344644p.K425Nc.1275A>CSubstitution - Missense
UGT1A9ENSG00000241119ENST00000354728p.K425Nc.1275A>CSubstitution - Missense
UGT1A7ENSG00000244122ENST00000373426p.K425Nc.1275A>CSubstitution - Missense
TSPYL6ENSG00000178021ENST00000317802p.S214Sc.642C>TSubstitution - coding silent
UGT1A5ENSG00000240224ENST00000373414p.K429Nc.1287A>CSubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.S316Sc.948C>TSubstitution - coding silent
KRTAP20-3ENSG00000206104ENST00000382826p.M1Vc.1A>GSubstitution - Missense
KRTAP20-3ENSG00000206104ENST00000382826p.M1Vc.1A>GSubstitution - Missense
NM_003895.2p.T1483Tc.4449C>TSubstitution - coding silent
ARAP2ENSG00000047365ENST00000303965p.Y851Fc.2552A>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.S3354Fc.10061C>TSubstitution - Missense
ABHD14AENSG00000248487ENST00000273596p.K103Kc.309G>ASubstitution - coding silent
ACY1ENSG00000243989ENST00000458031p.R55Kc.164G>ASubstitution - Missense
RAD54L2ENSG00000164080ENST00000409535p.E355Gc.1064A>GSubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.K805Kc.2415A>GSubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.D386Nc.1156G>ASubstitution - Missense
ENST00000242365_v65p.D336Nc.1006G>ASubstitution - Missense
CREB3L2ENSG00000182158ENST00000330387p.F120Fc.360C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.V396Vc.1188C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.V396Vc.1188C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.V396Vc.1188C>TSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.E275Kc.823G>ASubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.I1223Ic.3669C>ASubstitution - coding silent
CALCRENSG00000004948ENST00000394441p.R58*c.172C>TSubstitution - Nonsense
PUF60ENSG00000179950ENST00000526683p.S232Cc.695C>GSubstitution - Missense
CYP11B2ENSG00000179142ENST00000323110p.A29Sc.85G>TSubstitution - Missense
SHARPINENSG00000179526ENST00000398712p.P147Ac.439C>GSubstitution - Missense
ZNF705GENSG00000215372ENST00000400156p.E160Kc.478G>ASubstitution - Missense
SLCO5A1ENSG00000137571ENST00000260126p.K642Nc.1926A>TSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.R1639Rc.4917G>ASubstitution - coding silent
CTIFENSG00000134030ENST00000256413p.S74Fc.221C>TSubstitution - Missense
HDHD2ENSG00000167220ENST00000300605p.P240Sc.718C>TSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.S630Fc.1889C>TSubstitution - Missense
CTC1ENSG00000178971ENST00000315684p.P1101Sc.3301C>TSubstitution - Missense
PIGNENSG00000197563ENST00000357637p.P838Pc.2514C>TSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.E357Kc.1069G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.L283Lc.849G>ASubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.E357Kc.1069G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.V704Vc.2112T>ASubstitution - coding silent
DNMT3BENSG00000088305ENST00000201963p.V696Vc.2088T>ASubstitution - coding silent
DEFB124ENSG00000180383ENST00000317676p.P63Sc.187C>TSubstitution - Missense
TTC30BENSG00000196659ENST00000408939p.L468Lc.1402C>TSubstitution - coding silent
NM_003319p.D18146Nc.54436G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E10146Kc.30436G>ASubstitution - Missense
ENST00000356127p.E10146Kc.30436G>ASubstitution - Missense
NOP58ENSG00000055044ENST00000264279p.N178fs*15c.532_538delAACTACADeletion - Frameshift
MATN3ENSG00000132031ENST00000407540p.E98Ec.294A>GSubstitution - coding silent
GTF3C3ENSG00000119041ENST00000263956p.N742Nc.2226T>CSubstitution - coding silent
RAPH1ENSG00000173166ENST00000319170p.V567Ic.1699G>ASubstitution - Missense
RAPH1ENSG00000173166ENST00000308091p.V619Ic.1855G>ASubstitution - Missense
ENSG00000182329ENST00000541917p.P572Sc.1714C>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.I716Rc.2147T>GSubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.P388Sc.1162C>TSubstitution - Missense
BBXENSG00000114439ENST00000415149p.R512Cc.1534C>TSubstitution - Missense
ENST00000398685p.?c.1457+1_1457+2insAGUnknown
DPPA2ENSG00000163530ENST00000478945p.N59Kc.177T>GSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.A244Gc.731C>GSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000304926p.P265Lc.794C>TSubstitution - Missense
ENST00000398617p.S70Sc.210G>ASubstitution - coding silent
ENST00000304488p.A55Tc.163G>ASubstitution - Missense
ZNF577ENSG00000161551ENST00000301399p.P423Pc.1269G>ASubstitution - coding silent
ZNF649ENSG00000198093ENST00000354957p.H107Hc.321C>TSubstitution - coding silent
VN1R2ENSG00000196131ENST00000341702p.R393Rc.1179G>ASubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359125p.P420Qc.1259C>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.G280Ec.839G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.R409Rc.1227G>ASubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.S240Fc.719C>TSubstitution - Missense
PAK7ENSG00000101349ENST00000378429p.A651Ac.1953G>ASubstitution - coding silent
ENST00000333679p.R447Lc.1340G>TSubstitution - Missense
PTPDC1ENSG00000158079ENST00000288976p.Q294Qc.882G>ASubstitution - coding silent
MYOCDENSG00000141052ENST00000425538p.P846Sc.2536C>TSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.P798Sc.2392C>TSubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.?c.999+7C>TUnknown
TP53ENSG00000141510ENST00000455263p.T284fs*21c.851_852delCADeletion - Frameshift
POLR2AENSG00000181222ENST00000322644p.I717Fc.2149A>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.T284fs*21c.851_852delCADeletion - Frameshift
ZNF554ENSG00000172006ENST00000317243p.G198Rc.592G>ASubstitution - Missense
ZNF675ENSG00000197372ENST00000359788p.L187Ic.559C>ASubstitution - Missense
ENST00000418100_v65p.G568Rc.1702G>CSubstitution - Missense
LINGO3ENSG00000220008ENST00000404279p.S336Rc.1008C>ASubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.L183Fc.547C>TSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.?c.496-10C>TUnknown
LILRA1ENSG00000104974ENST00000251372p.P286Sc.856C>TSubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.D116Nc.346G>ASubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.?c.632-1G>AUnknown
ENST00000374375_v68p.S209Fc.626C>TSubstitution - Missense
CEP250ENSG00000126001ENST00000397527p.?c.600-8G>AUnknown
ENST00000237536_v68p.L714Lc.2140C>TSubstitution - coding silent
SOGA1ENSG00000149639ENST00000237536p.L714Lc.2140C>TSubstitution - coding silent
MCM8ENSG00000125885ENST00000378896p.G29Ec.86G>ASubstitution - Missense
MCM8ENSG00000125885ENST00000265187p.G29Ec.86G>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000371173p.P122Sc.364C>TSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.H264Yc.790C>TSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.H264Yc.790C>TSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.S270Sc.810G>ASubstitution - coding silent
UNC13BENSG00000198722ENST00000378495p.S207Fc.620C>TSubstitution - Missense
ERMP1ENSG00000099219ENST00000339450p.K393Tc.1178A>CSubstitution - Missense
LGI3ENSG00000168481ENST00000306317p.T190fs*73c.567_568insGTGGTInsertion - Frameshift
HRENSG00000168453ENST00000381418p.P428Sc.1282C>TSubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.G650Rc.1948G>ASubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.Y214fs*1c.637_638delGTDeletion - Frameshift
CNBD1ENSG00000176571ENST00000518476p.Y214fs*1c.637_638delGTDeletion - Frameshift
MBOAT4ENSG00000177669ENST00000320542p.M394Ic.1182G>ASubstitution - Missense
MBOAT4ENSG00000177669ENST00000320542p.M288Ic.864G>ASubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.P337Sc.1009C>TSubstitution - Missense
ACEENSG00000159640ENST00000290866p.D1206Dc.3618C>TSubstitution - coding silent
ACEENSG00000159640ENST00000490216p.D632Dc.1896C>TSubstitution - coding silent
KCNJ12ENSG00000184185ENST00000331718p.V297Vc.891C>TSubstitution - coding silent
MFAP4ENSG00000166482ENST00000395592p.D158Nc.472G>ASubstitution - Missense
MFAP4ENSG00000166482ENST00000299610p.D134Nc.400G>ASubstitution - Missense
KPNA2ENSG00000182481ENST00000330459p.F381Fc.1143C>TSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.S234Sc.702C>TSubstitution - coding silent
ENST00000436173p.D2538Nc.7612G>ASubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.A586Ac.1758G>ASubstitution - coding silent
KANK2ENSG00000197256ENST00000355150p.E561*c.1681G>TSubstitution - Nonsense
GCDHENSG00000105607ENST00000222214p.?c.1244-3C>TUnknown
KRTAP10-4ENSG00000215454ENST00000400374p.P44Tc.130C>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.G977Rc.2929G>ASubstitution - Missense
ARID5AENSG00000196843ENST00000357485p.H400Yc.1198C>TSubstitution - Missense
HTR1FENSG00000179097ENST00000319595p.S42Sc.126C>TSubstitution - coding silent
CADM2ENSG00000175161ENST00000405615p.E242delEc.722_724delAAGDeletion - In frame
AFMENSG00000079557ENST00000226355p.K190*c.568A>TSubstitution - Nonsense
CCDC158ENSG00000163749ENST00000388914p.L80Lc.240G>ASubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.S835Fc.2504C>TSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.L299Fc.895C>TSubstitution - Missense
NKD1ENSG00000140807ENST00000268459p.P376Sc.1126C>TSubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.L240Vc.718C>GSubstitution - Missense
MMP2ENSG00000087245ENST00000219070p.R385Cc.1153C>TSubstitution - Missense
ATP2A3ENSG00000074370ENST00000359983p.D738Nc.2212G>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.D738Nc.2212G>ASubstitution - Missense
GSDMBENSG00000073605ENST00000418519p.F337Fc.1011C>TSubstitution - coding silent
KRT33BENSG00000131738ENST00000251646p.L317Lc.949C>TSubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.S316Sc.948C>TSubstitution - coding silent
MRPL9ENSG00000143436ENST00000368830p.T230Ic.689C>TSubstitution - Missense
AGBL4ENSG00000186094ENST00000371839p.?c.1267+5C>TUnknown
FAM151AENSG00000162391ENST00000302250p.?c.800+1G>AUnknown
LRRC42ENSG00000116212ENST00000319223p.P351Sc.1051C>TSubstitution - Missense
ORC1ENSG00000085840ENST00000371568p.L671Lc.2013G>CSubstitution - coding silent
HEATR5AENSG00000129493ENST00000389961p.E1249Kc.3745G>ASubstitution - Missense
VCPKMTENSG00000100483ENST00000395860p.S59Sc.177T>CSubstitution - coding silent
ITPR2ENSG00000123104ENST00000381340p.T84Tc.252C>TSubstitution - coding silent
OR4M2ENSG00000182974ENST00000332663p.Y243Fc.728A>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.?c.970+9C>TUnknown
DDX11ENSG00000013573ENST00000407793p.S237Fc.710C>TSubstitution - Missense
UBAP2LENSG00000143569ENST00000361546p.K290Rc.869A>GSubstitution - Missense
UBAP2LENSG00000143569ENST00000343815p.K290Rc.869A>GSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.T1044Kc.3131C>ASubstitution - Missense
LAD1ENSG00000159166ENST00000391967p.?c.1249-5C>TUnknown
PKP1ENSG00000081277ENST00000263946p.A488Vc.1463C>TSubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.A467Vc.1400C>TSubstitution - Missense
MFSD4ENSG00000174514ENST00000367147p.L278Lc.832C>TSubstitution - coding silent
TCF12ENSG00000140262ENST00000452095p.S114Fc.341C>TSubstitution - Missense
GCNT3ENSG00000140297ENST00000396065p.S355Lc.1064C>TSubstitution - Missense
OR2M4ENSG00000171180ENST00000306687p.I226Ic.678C>TSubstitution - coding silent
WDTC1ENSG00000142784ENST00000361771p.P429Sc.1285C>TSubstitution - Missense
LPAR3ENSG00000171517ENST00000370611p.W25*c.74G>ASubstitution - Nonsense
SYT16ENSG00000139973ENST00000430451p.?c.523+1G>AUnknown
PLEKHH1ENSG00000054690ENST00000329153p.P218Lc.653C>TSubstitution - Missense
SPTBENSG00000070182ENST00000542895p.T2072Tc.6216C>TSubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.?c.5938-8C>TUnknown
SPTBENSG00000070182ENST00000542895p.?c.5938-8C>TUnknown
STON2ENSG00000140022ENST00000267540p.S346Fc.1037C>TSubstitution - Missense
SLC24A4ENSG00000140090ENST00000532405p.P399Sc.1195C>TSubstitution - Missense
RBPMS2ENSG00000166831ENST00000300069p.P95Lc.284C>TSubstitution - Missense
RPL4ENSG00000174444ENST00000307961p.I224Ic.672C>TSubstitution - coding silent
FNBP1LENSG00000137942ENST00000271234p.?c.1274+9C>TUnknown
FNBP1LENSG00000137942ENST00000260506p.?c.1100+9C>TUnknown
CARKDENSG00000213995ENST00000309957p.S371Lc.1112C>TSubstitution - Missense
ARGLU1ENSG00000134884ENST00000400198p.K106*c.316A>TSubstitution - Nonsense
MPHOSPH8ENSG00000196199ENST00000414242p.F59Fc.177C>TSubstitution - coding silent
TPTE2ENSG00000132958ENST00000400230p.F519Lc.1557T>GSubstitution - Missense
SPEF2ENSG00000152582ENST00000303129p.R223Qc.668G>ASubstitution - Missense
ZFP1ENSG00000184517ENST00000393430p.C242Yc.725G>ASubstitution - Missense
C9ENSG00000113600ENST00000263408p.E558Kc.1672G>ASubstitution - Missense
NUDT7ENSG00000140876ENST00000268533p.L99Lc.297C>TSubstitution - coding silent
ADAD2ENSG00000140955ENST00000268624p.P405Pc.1215C>TSubstitution - coding silent
HSD17B2ENSG00000086696ENST00000199936p.G296Dc.887G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.D88Nc.262G>ASubstitution - Missense
SIRPB2ENSG00000196209ENST00000359801p.?c.451+5G>AUnknown
ENST00000356127p.?c.14009-10C>TUnknown
TTNENSG00000155657ENST00000342992p.R6197Qc.18590G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.T71Ic.212C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.T71Ic.212C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T71Sc.211A>TSubstitution - Missense
ENST00000356127p.T71Sc.211A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T71Sc.211A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T71Ic.212C>TSubstitution - Missense
SPAG16ENSG00000144451ENST00000331683p.A498Ac.1494A>GSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.R2266Rc.6798G>ASubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.E700Kc.2098G>ASubstitution - Missense
ENST00000429478p.T1264Ic.3791C>TSubstitution - Missense
C3ENSG00000125730ENST00000245907p.K1050Kc.3150G>ASubstitution - coding silent
MYO1FENSG00000142347ENST00000338257p.P985Sc.2953C>TSubstitution - Missense
ENST00000331986p.F4520Fc.13560C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.F8887Fc.26661C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S10570Lc.31709C>TSubstitution - Missense
ARMCX1ENSG00000126947ENST00000372829p.P186Lc.557C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.P911Sc.2731C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.N1689Nc.5067C>TSubstitution - coding silent
KNDC1ENSG00000171798ENST00000304613p.N504Nc.1512C>TSubstitution - coding silent
KNDC1ENSG00000171798ENST00000304613p.N1563Kc.4689C>ASubstitution - Missense
PPP1R13BENSG00000088808ENST00000202556p.?c.278-1G>AUnknown
MARK3ENSG00000075413ENST00000416682p.?c.1552-6T>GUnknown
MARK3ENSG00000075413ENST00000216288p.?c.1435-6T>GUnknown
RPGRIP1ENSG00000092200ENST00000400017p.T132Tc.396A>GSubstitution - coding silent
BSCL2ENSG00000168000ENST00000403550p.F230Fc.690C>TSubstitution - coding silent
RPS6KB2ENSG00000175634ENST00000312629p.V300fs*22c.897_898insTInsertion - Frameshift
WNK1ENSG00000060237ENST00000537687p.S730Lc.2189C>TSubstitution - Missense
HALENSG00000084110ENST00000261208p.N443Kc.1329C>GSubstitution - Missense
PNRC2ENSG00000189266ENST00000334351p.S34Sc.102C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.A1094_A1095ins11c.3263_3264ins33Insertion - In frame
SLKENSG00000065613ENST00000369755p.T181Tc.543G>ASubstitution - coding silent
AP2A2ENSG00000183020ENST00000448903p.D473Dc.1419C>TSubstitution - coding silent
CNTN1ENSG00000018236ENST00000547849p.G607Vc.1820G>TSubstitution - Missense
STOML3ENSG00000133115ENST00000379631p.?c.157-7C>TUnknown
ENST00000368102_v68p.L137Lc.409C>TSubstitution - coding silent
C11orf44ENSG00000175728ENST00000317019p.S37Sc.111C>TSubstitution - coding silent
BRSK2ENSG00000174672ENST00000308219p.?c.414-2A>CUnknown
SU_BRSK2p.?c.414-2A>CUnknown
LAMC1ENSG00000135862ENST00000258341p.P717Lc.2150C>TSubstitution - Missense
GLULENSG00000135821ENST00000339526p.P146Pc.438C>TSubstitution - coding silent
ATN1ENSG00000111676ENST00000396684p.P633Sc.1897C>TSubstitution - Missense
GPR162ENSG00000250510ENST00000311268p.V219Vc.657G>ASubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.?c.4682-3C>TUnknown
CHD4ENSG00000111642ENST00000357008p.?c.4682-3C>TUnknown
ENST00000290575p.Q270Qc.810G>ASubstitution - coding silent
NM_182557.1p.P450Pc.1350C>TSubstitution - coding silent
ENST00000392849p.P450Pc.1350C>TSubstitution - coding silent
AMICA1ENSG00000160593ENST00000292067p.R365Rc.1095G>ASubstitution - coding silent
DSCAML1ENSG00000177103ENST00000321322p.E1881Kc.5641G>ASubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.R965Qc.2894G>ASubstitution - Missense
TSPAN32ENSG00000064201ENST00000182290p.L318Fc.952C>TSubstitution - Missense
DENND2DENSG00000162777ENST00000357640p.L236Fc.708G>CSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.E764Gc.2291A>GSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.P765Tc.2293C>ASubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.E772Gc.2315A>GSubstitution - Missense
CFHR4ENSG00000134365ENST00000367416p.F447Fc.1341C>TSubstitution - coding silent
CFHR4ENSG00000134365ENST00000251424p.F201Fc.603C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.R4029Rc.12087G>ASubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.W836*c.2507G>ASubstitution - Nonsense
CACNB2ENSG00000165995ENST00000352115p.?c.456+10A>GUnknown
CACNB2ENSG00000165995ENST00000396576p.?c.291+10A>GUnknown
MYO3AENSG00000095777ENST00000265944p.I1441Vc.4321A>GSubstitution - Missense
PAPLNENSG00000100767ENST00000340738p.A310Ac.930C>TSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.G1390Gc.4170G>ASubstitution - coding silent
BLMENSG00000197299ENST00000355112p.S499Fc.1496C>TSubstitution - Missense
SEMA4BENSG00000185033ENST00000332496p.A283Ac.849C>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.A1081Tc.3241G>ASubstitution - Missense
DNA2ENSG00000138346ENST00000399180p.P835Sc.2503C>TSubstitution - Missense
DNA2ENSG00000138346ENST00000358410p.P749Sc.2245C>TSubstitution - Missense
ENST00000398860p.E1645Dc.4935G>TSubstitution - Missense
MEN1ENSG00000133895ENST00000312049p.?c.654+9C>TUnknown
KCNQ4ENSG00000117013ENST00000347132p.R547Rc.1641G>ASubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.P756Pc.2268C>TSubstitution - coding silent
EBNA1BP2ENSG00000117395ENST00000431635p.A169Ac.507C>TSubstitution - coding silent
EBNA1BP2ENSG00000117395ENST00000236051p.A114Ac.342C>TSubstitution - coding silent
SDSENSG00000135094ENST00000257549p.G289Rc.865G>ASubstitution - Missense
EIF2B3ENSG00000070785ENST00000360403p.Q363Hc.1089G>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.S568Nc.1703G>ASubstitution - Missense
ACAP3ENSG00000131584ENST00000354700p.A738Ac.2214G>CSubstitution - coding silent
HAO2ENSG00000116882ENST00000325945p.D54Ec.162T>GSubstitution - Missense
APCENSG00000134982ENST00000457016p.Q1406*c.4216C>TSubstitution - Nonsense
OR1A1ENSG00000172146ENST00000304094p.R293Wc.877C>TSubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.P1504Lc.4511C>TSubstitution - Missense
COX18ENSG00000163626ENST00000295890p.F287Fc.861C>TSubstitution - coding silent
PRSS1ENSG00000204983ENST00000311737p.T137Tc.411G>ASubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.E985Kc.2953G>ASubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.F1563Fc.4689C>TSubstitution - coding silent
GRIN2CENSG00000161509ENST00000293190p.I761Ic.2283C>TSubstitution - coding silent
CRATENSG00000095321ENST00000318080p.R181*c.541C>TSubstitution - Nonsense
ENST00000361570_v62p.A169Ac.507C>TSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.R859Hc.2576G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.R529Qc.1586G>ASubstitution - Missense
PCIF1ENSG00000100982ENST00000372409p.R55Qc.164G>ASubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.A820Vc.2459C>TSubstitution - Missense
ST5ENSG00000166444ENST00000534127p.P420Pc.1260T>CSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.V1936Mc.5806G>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.S429Lc.1286C>TSubstitution - Missense
TMPRSS11BENSG00000185873ENST00000332644p.G188Ec.563G>ASubstitution - Missense
LAMB3ENSG00000196878ENST00000367030p.T1000Tc.3000C>ASubstitution - coding silent
OR6C1ENSG00000205330ENST00000379668p.D50Nc.148G>ASubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.E516Ec.1548A>GSubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.S1735Fc.5204C>TSubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.G143Sc.427G>ASubstitution - Missense
GIT2ENSG00000139436ENST00000355312p.I349Sc.1046T>GSubstitution - Missense
GIT2ENSG00000139436ENST00000547815p.I349Sc.1046T>GSubstitution - Missense
RPH3AENSG00000089169ENST00000389385p.W150*c.449G>ASubstitution - Nonsense
ENST00000377560_v62p.I2579Tc.7736T>CSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.S521Lc.1562C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.S246Lc.737C>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.S3238Gc.9712A>GSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.A2839Ac.8517A>CSubstitution - coding silent
ZBTB40ENSG00000184677ENST00000404138p.V423Lc.1267G>TSubstitution - Missense
NM_020247p.L37Fc.109C>TSubstitution - Missense
SNCGENSG00000173267ENST00000372017p.E84Kc.250G>ASubstitution - Missense
HECTD2ENSG00000165338ENST00000298068p.G222Sc.664G>ASubstitution - Missense
ENST00000349637p.G3505Rc.10513G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T2778Ic.8333C>TSubstitution - Missense
ENST00000349637p.T2757Ic.8270C>TSubstitution - Missense
AGBL2ENSG00000165923ENST00000298861p.L71Lc.211C>TSubstitution - coding silent
PSMC3ENSG00000165916ENST00000298852p.D419Ec.1257C>GSubstitution - Missense
BCANENSG00000132692ENST00000329117p.I182Sc.545T>GSubstitution - Missense
OR10J5ENSG00000184155ENST00000334857p.S266Lc.797C>TSubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.?c.2055+1G>TUnknown
MON2ENSG00000061987ENST00000393632p.H819Yc.2455C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.C4391Yc.13172G>ASubstitution - Missense
SU_OBSCN.1p.C4261Yc.12782G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.C4490Yc.13469G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.?c.22077-4G>CUnknown
NID1ENSG00000116962ENST00000264187p.Y651Hc.1951T>CSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.F779Fc.2337C>TSubstitution - coding silent
GALNT9ENSG00000182870ENST00000328957p.V375Mc.1123G>ASubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.E375Kc.1123G>ASubstitution - Missense
PRPF40BENSG00000110844ENST00000380281p.R412Cc.1234C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.L761Lc.2283A>GSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000453097p.D1006Nc.3016G>ASubstitution - Missense
ZNF592ENSG00000166716ENST00000299927p.K471Kc.1413G>ASubstitution - coding silent
ARRB1ENSG00000137486ENST00000360025p.?c.618+7G>AUnknown
SLCO2B1ENSG00000137491ENST00000289575p.N27Dc.79A>GSubstitution - Missense
SLCO2B1ENSG00000137491ENST00000289575p.N27Sc.80A>GSubstitution - Missense
C10orf88ENSG00000119965ENST00000481909p.P258Sc.772C>TSubstitution - Missense


COSMIC

4 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
NRASENSG00000213281ENST00000369535p.Q61Kc.181C>ASubstitution - Missense10766161
NRASENSG00000213281ENST00000369535p.Q61Kc.?Substitution - Missense21725359
CDKN2AENSG00000147889ENST00000304494p.P114Lc.341C>TSubstitution - Missense8895759
NRASENSG00000213281ENST00000369535p.Q61Kc.180_181AC>TASubstitution - Missense14961576