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COLO-741 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

830 mutations reported
322 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
NARS2ENSG00000137513ENST00000281038p.F145fs*27c.435_468del34Deletion - Frameshift
DMBT1ENSG00000187908ENST00000368909p.D1059Nc.3175G>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.R1347Cc.4039C>TSubstitution - Missense
SYT9ENSG00000170743ENST00000318881p.R268Wc.802C>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.R1033Qc.3098G>ASubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.G414Gc.1242C>TSubstitution - coding silent
GOLGA6L18ENSG00000215749ENST00000559949p.G155Gc.465G>ASubstitution - coding silent
ACVR1BENSG00000135503ENST00000541224p.A42Dc.125C>ASubstitution - Missense
LDHBENSG00000111716ENST00000396076p.?c.596-7_612>23Unknown
C12orf54ENSG00000177627ENST00000314014p.?c.135+10G>TUnknown
PIK3C2GENSG00000139144ENST00000433979p.G987Gc.2961A>CSubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.G987Gc.2961A>CSubstitution - coding silent
SLCO1B7ENSG00000205754ENST00000421593p.D151Nc.451G>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.?c.2548-10T>CUnknown
GUCY2CENSG00000070019ENST00000261170p.V294Vc.882C>TSubstitution - coding silent
LGALS8ENSG00000116977ENST00000527974p.I17Ic.51C>TSubstitution - coding silent
GALNT9ENSG00000182870ENST00000535228p.?c.331-5_331-1delcgcagUnknown
PCNXL2ENSG00000135749ENST00000258229p.R1814Wc.5440C>TSubstitution - Missense
ENST00000344698_v71p.R466Wc.1396C>TSubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.A223Vc.668C>TSubstitution - Missense
OR6K3ENSG00000203757ENST00000368146p.D311Nc.931G>ASubstitution - Missense
ENST00000328408p.R131Kc.392G>ASubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.L805Lc.2413C>TSubstitution - coding silent
FNBP4ENSG00000109920ENST00000263773p.?c.1581+4deltUnknown
OR51F1ENSG00000188069ENST00000343430p.P131Rc.392C>GSubstitution - Missense
ENST00000402751p.?c.869-7G>TUnknown
LRRC4CENSG00000148948ENST00000278198p.G409Gc.1227T>ASubstitution - coding silent
OR10G8ENSG00000234560ENST00000431524p.D268Gc.803A>GSubstitution - Missense
OR8D2ENSG00000197263ENST00000357438p.D296Nc.886G>ASubstitution - Missense
LIPNENSG00000204020ENST00000404459p.G121Ec.362G>ASubstitution - Missense
SFTPA1ENSG00000122852ENST00000419470p.A22Vc.65C>TSubstitution - Missense
ITIH2ENSG00000151655ENST00000358415p.F230Lc.688T>CSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.G149Gc.447T>CSubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.P1761Lc.5282C>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.L3752Vc.11254C>GSubstitution - Missense
CCNYENSG00000108100ENST00000374706p.Q20Qc.60G>ASubstitution - coding silent
SASS6ENSG00000156876ENST00000287482p.Q74*c.220C>TSubstitution - Nonsense
MYCBP2ENSG00000005810ENST00000407578p.E1771*c.5311G>TSubstitution - Nonsense
NM_015057.1p.E1733*c.5197G>TSubstitution - Nonsense
ACAD10ENSG00000111271ENST00000313698p.G38Ec.113G>ASubstitution - Missense
FNDC3AENSG00000102531ENST00000492622p.?c.1531-9C>TUnknown
ENSG00000215462ENST00000400396p.H7Lc.20A>TSubstitution - Missense
CR1LENSG00000197721ENST00000508064p.R303Rc.909G>ASubstitution - coding silent
CR1LENSG00000197721ENST00000294997p.R311Rc.933G>ASubstitution - coding silent
IFI44LENSG00000137959ENST00000370751p.D120Nc.358G>ASubstitution - Missense
AFMENSG00000079557ENST00000226355p.S131Fc.392C>TSubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.E401Kc.1201G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.M510Tc.1529T>CSubstitution - Missense
CHST11ENSG00000171310ENST00000303694p.H267Pc.800A>CSubstitution - Missense
CTAGE9ENSG00000236761ENST00000314099p.D508Nc.1522G>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.D598Dc.1794C>TSubstitution - coding silent
MORC1ENSG00000114487ENST00000232603p.P780Pc.2340G>ASubstitution - coding silent
OR9Q2ENSG00000186513ENST00000311591p.R53Cc.157C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.T550Tc.1650G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.L29Lc.87G>ASubstitution - coding silent
KCND2ENSG00000184408ENST00000331113p.A152Vc.455C>TSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.A45Vc.134C>TSubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.R285Qc.854G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.L29Lc.87G>ASubstitution - coding silent
FBXO15ENSG00000141665ENST00000269500p.R27Hc.80G>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.R1823Qc.5468G>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.N3982Dc.11944A>GSubstitution - Missense
KIAA0586ENSG00000100578ENST00000261244p.L363Fc.1087C>TSubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.L416Fc.1246C>TSubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.R756Hc.2267G>ASubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.P288Lc.863C>TSubstitution - Missense
C8BENSG00000021852ENST00000371237p.P507Sc.1519C>TSubstitution - Missense
LDLRAP1ENSG00000157978ENST00000374338p.N138Sc.413A>GSubstitution - Missense
PRTGENSG00000166450ENST00000389286p.F556Fc.1668C>TSubstitution - coding silent
FAM227BENSG00000166262ENST00000299338p.?c.406-4C>TUnknown
UNC13CENSG00000137766ENST00000260323p.R182Qc.545G>ASubstitution - Missense
PRELPENSG00000188783ENST00000343110p.P166Sc.496C>TSubstitution - Missense
ZC3H11AENSG00000058673ENST00000367210p.A586Vc.1757C>TSubstitution - Missense
MTX1ENSG00000173171ENST00000368376p.E250Kc.748G>ASubstitution - Missense
LCE2DENSG00000187223ENST00000368784p.P42Sc.124C>TSubstitution - Missense
SLC6A13ENSG00000010379ENST00000343164p.?c.935+5T>CUnknown
CACNA1CENSG00000151067ENST00000344100p.D1334Nc.4000G>ASubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.T426fs*25c.1276delADeletion - Frameshift
HRNRENSG00000197915ENST00000368801p.G443Ec.1328G>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G443Rc.1327G>ASubstitution - Missense
ENST00000450269_v68p.A81Vc.242C>TSubstitution - Missense
BTBD19ENSG00000222009ENST00000450269p.A81Vc.242C>TSubstitution - Missense
TMCO2ENSG00000188800ENST00000372766p.L30fs*5c.83_84insTInsertion - Frameshift
DPM1ENSG00000000419ENST00000371588p.E38Kc.112G>ASubstitution - Missense
DPM1ENSG00000000419ENST00000371584p.R37Hc.110G>ASubstitution - Missense
SEMA4BENSG00000185033ENST00000332496p.R833fs*>5c.2498delGDeletion - Frameshift
SIPA1L1ENSG00000197555ENST00000555818p.V1359Mc.4075G>ASubstitution - Missense
NM_020824.2p.Q911*c.2731C>TSubstitution - Nonsense
ACSM2BENSG00000066813ENST00000329697p.E214Kc.640G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.M3565Tc.10694T>CSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.I482Ic.1446C>TSubstitution - coding silent
WNT2BENSG00000134245ENST00000369684p.G67Gc.201G>ASubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000526355p.V378Vc.1134C>TSubstitution - coding silent
TRIM29ENSG00000137699ENST00000341846p.F458Fc.1374C>TSubstitution - coding silent
NM_005933.1p.V2335Ac.7004T>CSubstitution - Missense
CCDC84ENSG00000186166ENST00000334418p.?c.805+1G>AUnknown
CD163L1ENSG00000177675ENST00000313599p.Q601*c.1801C>TSubstitution - Nonsense
CACNA1EENSG00000198216ENST00000367573p.G133Gc.399G>ASubstitution - coding silent
ALDH9A1ENSG00000143149ENST00000354775p.G494Gc.1482C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.S2120Fc.6359C>TSubstitution - Missense
GABRB3ENSG00000166206ENST00000311550p.S371Lc.1112C>TSubstitution - Missense
GABRB3ENSG00000166206ENST00000299267p.S371Lc.1112C>TSubstitution - Missense
GABRB3ENSG00000166206ENST00000541819p.S427Lc.1280C>TSubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.E743*c.2227G>TSubstitution - Nonsense
AGO3ENSG00000126070ENST00000373191p.S728Rc.2184T>GSubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.S757Lc.2270C>TSubstitution - Missense
BLZF1ENSG00000117475ENST00000367808p.D249Vc.746A>TSubstitution - Missense
FMO1ENSG00000010932ENST00000354841p.?c.485-1G>AUnknown
FMO1ENSG00000010932ENST00000354841p.G162Dc.485G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.K382Qc.1144A>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.K382Qc.1144A>CSubstitution - Missense
PUS7LENSG00000129317ENST00000344862p.V349Ac.1046T>CSubstitution - Missense
SU_LRRK2p.?c.2241+8T>AUnknown
CEP57ENSG00000166037ENST00000325542p.?c.1273-7G>AUnknown
SLC17A8ENSG00000179520ENST00000323346p.G549Ec.1646G>ASubstitution - Missense
SLC25A3ENSG00000075415ENST00000188376p.A61Tc.181G>ASubstitution - Missense
DEAF1ENSG00000177030ENST00000382409p.V150Vc.450C>TSubstitution - coding silent
ZNF214ENSG00000149050ENST00000278314p.G562Sc.1684G>ASubstitution - Missense
FADS1ENSG00000149485ENST00000350997p.P223Pc.669C>ASubstitution - coding silent
OR52E8ENSG00000183269ENST00000537935p.S222Fc.665C>TSubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.D52Nc.154G>ASubstitution - Missense
OOSP2ENSG00000149507ENST00000278855p.M32Ic.96G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.R423Rc.1269A>GSubstitution - coding silent
LRP10ENSG00000197324ENST00000359591p.V446Lc.1336G>CSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.V4032Vc.12096G>ASubstitution - coding silent
PRSS58ENSG00000258223ENST00000547058p.P71Qc.212C>ASubstitution - Missense
MYLK4ENSG00000145949ENST00000274643p.L224Fc.670C>TSubstitution - Missense
MYLK4ENSG00000145949ENST00000268446p.L224Fc.670C>TSubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.D1629Ec.4887T>GSubstitution - Missense
BSNENSG00000164061ENST00000296452p.E3271Kc.9811G>ASubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.G1351Ec.4052G>ASubstitution - Missense
DOK7ENSG00000175920ENST00000389653p.G500Ac.1499G>CSubstitution - Missense
TBC1D1ENSG00000065882ENST00000261439p.Y861Yc.2583C>TSubstitution - coding silent
ATP2A3ENSG00000074370ENST00000359983p.I214Ic.642C>TSubstitution - coding silent
SMARCE1ENSG00000073584ENST00000348513p.W81Lc.242G>TSubstitution - Missense
IRX6ENSG00000159387ENST00000290552p.P321Sc.961C>TSubstitution - Missense
CAPNS2ENSG00000256812ENST00000457326p.T245Tc.735C>TSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.?c.2515-1G>AUnknown
UGT2B10ENSG00000109181ENST00000265403p.?c.1308-5T>CUnknown
ENST00000265403_v61p.G525Rc.1573G>ASubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.G633Gc.1899G>ASubstitution - coding silent
CHST9ENSG00000154080ENST00000284224p.P441Sc.1321C>TSubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.S824Lc.2471C>TSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.P470Sc.1408C>TSubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.L554Lc.1662G>ASubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.A45Ac.135C>TSubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.A45Ac.135C>TSubstitution - coding silent
SLC7A13ENSG00000164893ENST00000419776p.L334Ic.1000C>ASubstitution - Missense
SLC7A13ENSG00000164893ENST00000297524p.L343Ic.1027C>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.H1343Qc.4029C>ASubstitution - Missense
ACTR8ENSG00000113812ENST00000335754p.N124Sc.371A>GSubstitution - Missense
ENST00000399773p.R120Kc.359G>ASubstitution - Missense
SND1ENSG00000197157ENST00000354725p.R62Qc.185G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.S158Sc.474C>TSubstitution - coding silent
TNPO3ENSG00000064419ENST00000393245p.S158Sc.474C>TSubstitution - coding silent
RNF148ENSG00000235631ENST00000434824p.S28Gc.82A>GSubstitution - Missense
E2F1ENSG00000101412ENST00000343380p.S285Fc.854C>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.?c.793-10C>TUnknown
THOP1ENSG00000172009ENST00000307741p.A12Vc.35C>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.G897Rc.2689G>ASubstitution - Missense
ENST00000428290_v65p.G897Rc.2689G>ASubstitution - Missense
ENST00000428290_v65p.S885Sc.2655A>CSubstitution - coding silent
ENST00000300671p.Q794Kc.2380C>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.P322fs*22c.963_964insAAInsertion - Frameshift
WDR81ENSG00000167716ENST00000409644p.G431Sc.1291G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.L2989Sc.8966T>CSubstitution - Missense
TCEAL3ENSG00000196507ENST00000372628p.G180Sc.538G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8863Tc.26589C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T8779Tc.26337G>ASubstitution - coding silent
ENST00000331986p.T4412Tc.13236G>ASubstitution - coding silent
FBN3ENSG00000142449ENST00000270509p.T837Ic.2510C>TSubstitution - Missense
ENST00000359590p.G213Ec.638G>ASubstitution - Missense
ENST00000446248_v68p.?c.1130+9C>TUnknown
CAMSAP3ENSG00000076826ENST00000160298p.?c.1049+9C>TUnknown
CAMSAP3ENSG00000076826ENST00000446248p.?c.1130+10C>TUnknown
GPC3ENSG00000147257ENST00000394299p.F545Fc.1635C>TSubstitution - coding silent
GPC3ENSG00000147257ENST00000370818p.F522Fc.1566C>TSubstitution - coding silent
RNF113AENSG00000125352ENST00000371442p.R240Rc.720C>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.K3178Kc.9534G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E7764Kc.23290G>ASubstitution - Missense
ENST00000356127p.E7764Kc.23290G>ASubstitution - Missense
FOXA2ENSG00000125798ENST00000377115p.P194Lc.581C>TSubstitution - Missense
MACROD2ENSG00000172264ENST00000217246p.?c.985+1G>AUnknown
ENST00000331986p.G1462Ec.4385G>ASubstitution - Missense
IGF2BP1ENSG00000159217ENST00000290341p.T204Tc.612C>TSubstitution - coding silent
RASGRP1ENSG00000172575ENST00000310803p.H93Hc.279C>TSubstitution - coding silent
SPATA13ENSG00000182957ENST00000382108p.I1066Ic.3198C>TSubstitution - coding silent
LRRC8DENSG00000171492ENST00000337338p.L593Fc.1777C>TSubstitution - Missense
GPHB5ENSG00000179600ENST00000314140p.A12Ac.36C>TSubstitution - coding silent
SNTG2ENSG00000172554ENST00000308624p.D209Nc.625G>ASubstitution - Missense
SLC25A40ENSG00000075303ENST00000341119p.?c.265-3T>CUnknown
TKTL1ENSG00000007350ENST00000369915p.R284Kc.851G>ASubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.D560Nc.1678G>ASubstitution - Missense
CD36ENSG00000135218ENST00000447544p.?c.702-9T>CUnknown
CD36ENSG00000135218ENST00000435819p.?c.702-9T>CUnknown
HGFENSG00000019991ENST00000222390p.V589Vc.1767C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.?c.8338-7C>TUnknown
DNAH11ENSG00000105877ENST00000328843p.L3824Lc.11470C>TSubstitution - coding silent
USTENSG00000111962ENST00000367463p.G130Ec.389G>ASubstitution - Missense
PHACTR2ENSG00000112419ENST00000440869p.T287Sc.860C>GSubstitution - Missense
PHACTR2ENSG00000112419ENST00000305766p.T196Sc.587C>GSubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.E1200Kc.3598G>ASubstitution - Missense
TRIM41ENSG00000146063ENST00000315073p.?c.814-6C>TUnknown
SSR3ENSG00000114850ENST00000265044p.D19Ec.57T>ASubstitution - Missense
PLOD2ENSG00000152952ENST00000282903p.M461Ic.1383G>ASubstitution - Missense
ACTG2ENSG00000163017ENST00000345517p.M270Ic.810G>ASubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.G837Ec.2510G>ASubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.G370Rc.1108G>CSubstitution - Missense
GADL1ENSG00000144644ENST00000282538p.?c.903+6T>CUnknown
CNOT10ENSG00000182973ENST00000328834p.S603Fc.1808C>TSubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000272238p.R266Sc.798A>CSubstitution - Missense
ZNF324ENSG00000083812ENST00000196482p.F110Fc.330C>TSubstitution - coding silent
IQSEC2ENSG00000124313ENST00000396435p.R531Qc.1592G>ASubstitution - Missense
IQSEC2ENSG00000124313ENST00000375365p.R326Qc.977G>ASubstitution - Missense
XM_291345.2p.R528Qc.1583G>ASubstitution - Missense
ADAM18ENSG00000168619ENST00000265707p.V554Lc.1660G>CSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.I2819Mc.8457T>GSubstitution - Missense
NAA11ENSG00000156269ENST00000286794p.S186Fc.557C>TSubstitution - Missense
GSTCDENSG00000138780ENST00000394730p.P226Lc.677C>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000354552p.R667Qc.2000G>ASubstitution - Missense
FILIP1LENSG00000168386ENST00000331335p.R667Qc.2000G>ASubstitution - Missense
MTTPENSG00000138823ENST00000265517p.R96Rc.288A>GSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.A237Tc.709G>ASubstitution - Missense
TFRCENSG00000072274ENST00000360110p.P289Lc.866C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1640Lc.4919C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2795Sc.8383A>TSubstitution - Missense
TSSC1ENSG00000032389ENST00000382125p.S307Sc.921G>ASubstitution - coding silent
HSPA13ENSG00000155304ENST00000285667p.S249Pc.745T>CSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.S2344Lc.7031C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000536311p.F988Lc.2964C>ASubstitution - Missense
NM_000933.2p.P165Sc.493C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.R563Wc.1687C>TSubstitution - Missense
TATDN2ENSG00000157014ENST00000287652p.Q247*c.739C>TSubstitution - Nonsense
RETNLBENSG00000163515ENST00000295755p.P68Hc.203C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S8904Lc.26711C>TSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.R1039Hc.3116G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.Q15593Pc.46778A>CSubstitution - Missense
NM_003319p.Q9096Pc.27287A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G19773Sc.59317G>ASubstitution - Missense
NM_003319p.G13276Sc.39826G>ASubstitution - Missense
ENST00000356127p.L31846Lc.95538G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L25543Lc.76629G>ASubstitution - coding silent
TUBA8ENSG00000183785ENST00000330423p.P360Lc.1079C>TSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.R1085Qc.3254G>ASubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.R489Qc.1466G>ASubstitution - Missense
TCF4ENSG00000196628ENST00000398339p.P304Sc.910C>TSubstitution - Missense
PKIAENSG00000171033ENST00000352966p.G69Ec.206G>ASubstitution - Missense
ZNF704ENSG00000164684ENST00000327835p.P296Pc.888C>TSubstitution - coding silent
LOXHD1ENSG00000167210ENST00000398722p.Q1871*c.5611C>TSubstitution - Nonsense
KCNB2ENSG00000182674ENST00000523207p.D664Nc.1990G>ASubstitution - Missense
SHARPINENSG00000179526ENST00000398712p.?c.517+9G>CUnknown
EPPK1ENSG00000227184ENST00000525985p.L1058Fc.3172C>TSubstitution - Missense
DYNC1I1ENSG00000158560ENST00000324972p.Q16Qc.48G>ASubstitution - coding silent
ZNF45ENSG00000124459ENST00000269973p.P331Lc.992C>TSubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.D475Nc.1423G>ASubstitution - Missense
ENST00000316490_v65p.P5040Sc.15118C>TSubstitution - Missense
ENST00000316490p.P4992Sc.14974C>TSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.P512Pc.1536C>ASubstitution - coding silent
C7orf72ENSG00000164500ENST00000297001p.A269Sc.805G>TSubstitution - Missense
ABCF2ENSG00000033050ENST00000287844p.H96Yc.286C>TSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.I557Ic.1671C>TSubstitution - coding silent
ENST00000326295p.R33Rc.99G>ASubstitution - coding silent
GEMIN5ENSG00000082516ENST00000285873p.S411Sc.1233C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000318218p.R1100Cc.3298C>TSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.V45Lc.133G>TSubstitution - Missense
NPSR1ENSG00000187258ENST00000359791p.Q128*c.382C>TSubstitution - Nonsense
ENST00000301171p.S218Sc.654G>ASubstitution - coding silent
C19orf47ENSG00000160392ENST00000392035p.R43Rc.129T>CSubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.G1182Gc.3546C>TSubstitution - coding silent
NM_014866.1p.G1182Gc.3546C>TSubstitution - coding silent
SLC6A3ENSG00000142319ENST00000270349p.I435Ic.1305C>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.L295fs*17c.883delCDeletion - Frameshift
NLRP1ENSG00000091592ENST00000572272p.L295fs*17c.883delCDeletion - Frameshift
CD300LGENSG00000161649ENST00000317310p.A297Ac.891G>ASubstitution - coding silent
FKBP10ENSG00000141756ENST00000321562p.T189Tc.567C>GSubstitution - coding silent
DSPENSG00000096696ENST00000379802p.R1705Rc.5115G>ASubstitution - coding silent
CENPWENSG00000203760ENST00000368328p.T60Tc.180A>TSubstitution - coding silent
SYCP2LENSG00000153157ENST00000283141p.S245Lc.734C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.L1501Lc.4503G>ASubstitution - coding silent
NFATC1ENSG00000131196ENST00000329101p.F122Fc.366T>CSubstitution - coding silent
FBXO15ENSG00000141665ENST00000419743p.R103Hc.308G>ASubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.K311Nc.933G>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.K311Nc.933G>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.G657Dc.1970G>ASubstitution - Missense
LMNB1ENSG00000113368ENST00000261366p.R337Cc.1009C>TSubstitution - Missense
SEPSECSENSG00000109618ENST00000382103p.L363Lc.1089G>ASubstitution - coding silent
FGGENSG00000171557ENST00000336098p.L20Lc.60C>TSubstitution - coding silent
LRBAENSG00000198589ENST00000357115p.Q2595*c.7783C>TSubstitution - Nonsense
NEK11ENSG00000114670ENST00000507910p.Y477Cc.1430A>GSubstitution - Missense
ILDR1ENSG00000145103ENST00000344209p.H220Qc.660C>ASubstitution - Missense
MCM6ENSG00000076003ENST00000264156p.I484Ic.1452C>TSubstitution - coding silent
LATENSG00000213658ENST00000395461p.S77Lc.230C>TSubstitution - Missense
LATENSG00000213658ENST00000360872p.S41Lc.122C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.R1324Cc.3970C>TSubstitution - Missense
PPP1R13LENSG00000104881ENST00000360957p.S567Fc.1700C>TSubstitution - Missense
ERCC1ENSG00000012061ENST00000013807p.?c.603-6T>CUnknown
ENST00000427170_v68p.?c.900+8G>AUnknown
SLC25A42ENSG00000181035ENST00000318596p.Q107Qc.321G>ASubstitution - coding silent
OTTHUMT00000036814.1p.L21Lc.63G>ASubstitution - coding silent
TAF9BENSG00000187325ENST00000341864p.P88Qc.263C>ASubstitution - Missense
ERCC6LENSG00000186871ENST00000334463p.Y662Yc.1986C>TSubstitution - coding silent
ABCB7ENSG00000131269ENST00000253577p.H691Hc.2073C>TSubstitution - coding silent
ABCB7ENSG00000131269ENST00000253577p.Q220Qc.660G>ASubstitution - coding silent
NM_138737.1p.?c.1064-7C>TUnknown
FOXR2ENSG00000189299ENST00000339140p.W270*c.809G>ASubstitution - Nonsense
CER1ENSG00000147869ENST00000380911p.G188Gc.564G>ASubstitution - coding silent
WBSCR28ENSG00000175877ENST00000320531p.V124Mc.370G>ASubstitution - Missense
ZNF679ENSG00000197123ENST00000421025p.H318Yc.952C>TSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.N363Nc.1089T>CSubstitution - coding silent
SLC26A5ENSG00000170615ENST00000339444p.N363Nc.1089T>CSubstitution - coding silent
SLC26A5ENSG00000170615ENST00000393735p.N363Nc.1089T>CSubstitution - coding silent
MUC3AENSG00000169894ENST00000319509p.I126Lc.376A>TSubstitution - Missense
ENST00000319509_v65p.I126Lc.376A>TSubstitution - Missense
KLC4ENSG00000137171ENST00000259708p.N602Dc.1804A>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.Q497Qc.1491A>GSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000544262p.F173Fc.519C>TSubstitution - coding silent
VIL1ENSG00000127831ENST00000248444p.G825Gc.2475A>GSubstitution - coding silent
ENST00000328843_v70p.?c.8338-7C>TUnknown
MUC12ENSG00000205277ENST00000379442p.F4567Fc.13701C>TSubstitution - coding silent
CRISP3ENSG00000096006ENST00000433368p.G149Cc.445G>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000435847p.R774Cc.2320C>TSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.V551Gc.1652T>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.G84Gc.252G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P322fs*>21c.960_961insAAInsertion - Frameshift
ENST00000312652p.E675Kc.2023G>ASubstitution - Missense
RBMS3ENSG00000144642ENST00000456853p.M290Ic.870G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000497079p.F192Fc.576C>TSubstitution - coding silent
ENSG00000182329ENST00000541917p.Q149Qc.447G>ASubstitution - coding silent
TPOENSG00000115705ENST00000337415p.P512Lc.1535C>TSubstitution - Missense
LIMS1ENSG00000169756ENST00000409441p.H291Yc.871C>TSubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.P165Sc.493C>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.P577Sc.1729C>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.T955Kc.2864C>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.Q794Kc.2380C>ASubstitution - Missense
NPLOC4ENSG00000182446ENST00000374747p.P470Sc.1408C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.L1478Lc.4432T>CSubstitution - coding silent
ABCA8ENSG00000141338ENST00000430352p.I221Mc.663A>GSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.Y609Hc.1825T>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.N367Dc.1099A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.?c.802-5C>TUnknown
LPHN2ENSG00000117114ENST00000370715p.?c.1199-5C>TUnknown
USH2AENSG00000042781ENST00000366943p.L1283Lc.3849G>ASubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.I413Ic.1239C>TSubstitution - coding silent
IGSF9ENSG00000085552ENST00000368094p.G22Gc.66G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.L29Lc.87G>ASubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.P1548Lc.4643C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.P1536Lc.4607C>TSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.A1350Ac.4050A>GSubstitution - coding silent
NBEAENSG00000172915ENST00000400445p.P1781Sc.5341C>TSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.V1342Vc.4026T>CSubstitution - coding silent
ACAD10ENSG00000111271ENST00000455480p.G38Ec.113G>ASubstitution - Missense
EEF1GENSG00000254772ENST00000378019p.I411Ic.1233C>ASubstitution - coding silent
CYB5R2ENSG00000166394ENST00000524790p.R6Kc.17G>ASubstitution - Missense
OR8K5ENSG00000181752ENST00000313447p.L43Lc.127C>TSubstitution - coding silent
ENST00000314657p.P168Sc.502C>TSubstitution - Missense
ARHGAP21ENSG00000107863ENST00000376410p.Q902*c.2704C>TSubstitution - Nonsense
RBFOX1ENSG00000078328ENST00000547372p.E207Kc.619G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.R182Qc.545G>ASubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.V378Vc.1134C>TSubstitution - coding silent
DGKBENSG00000136267ENST00000258767p.I557Ic.1671C>TSubstitution - coding silent
KLHL31ENSG00000124743ENST00000370905p.I263Ic.789C>TSubstitution - coding silent
GLYATL3ENSG00000203972ENST00000371197p.E196Kc.586G>ASubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.L137Lc.411C>TSubstitution - coding silent
CPEENSG00000109472ENST00000402744p.E268Kc.802G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.L886Lc.2658C>TSubstitution - coding silent
CIZ1ENSG00000148337ENST00000372938p.V704Vc.2112G>ASubstitution - coding silent
GOLGA2ENSG00000167110ENST00000421699p.P958Pc.2874C>TSubstitution - coding silent
ODF2ENSG00000136811ENST00000372814p.T542Pc.1624A>CSubstitution - Missense
OR1N1ENSG00000171505ENST00000304880p.F112Fc.336C>TSubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.Y1734Dc.5200T>GSubstitution - Missense
ALADENSG00000148218ENST00000409155p.P51Qc.152C>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.P819Lc.2456C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.P726Lc.2177C>TSubstitution - Missense
TBR1ENSG00000136535ENST00000389554p.V356Mc.1066G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.R1131Qc.3392G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.R1131Qc.3392G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.R1131Qc.3392G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.?c.8266-7A>GUnknown
NEBENSG00000183091ENST00000409198p.?c.8266-7A>GUnknown
NCOA3ENSG00000124151ENST00000371998p.P215Lc.644C>TSubstitution - Missense
ZNF641ENSG00000167528ENST00000301042p.P83Lc.248C>TSubstitution - Missense
MTPAPENSG00000107951ENST00000358107p.F327Fc.981C>TSubstitution - coding silent
ENST00000539592p.V402Lc.1204G>TSubstitution - Missense
CTAGE9ENSG00000236761ENST00000314099p.D508Nc.1522G>ASubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.A45Vc.134C>TSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.T1196Mc.3587C>TSubstitution - Missense
RIPK1ENSG00000137275ENST00000259808p.L386Fc.1156C>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.L295fs*17c.883delCDeletion - Frameshift
POMGNT2ENSG00000144647ENST00000344697p.P253Sc.757C>TSubstitution - Missense
ELNENSG00000049540ENST00000252034p.G224Ec.671G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S3144Lc.9431C>TSubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.E364Kc.1090G>ASubstitution - Missense
CD36ENSG00000135218ENST00000435819p.?c.702-9T>CUnknown
EMID1ENSG00000186998ENST00000334018p.G244Ec.731G>ASubstitution - Missense
SYN3ENSG00000185666ENST00000358763p.W206*c.618G>ASubstitution - Nonsense
NM_020777.1p.G671Ec.2012G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.?c.1199-5C>TUnknown
DNAJC11ENSG00000007923ENST00000451196p.A300Tc.898G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.E184Kc.550G>ASubstitution - Missense
INO80ENSG00000128908ENST00000361937p.?c.4454-7C>TUnknown
ENST00000340286p.E25Kc.73G>ASubstitution - Missense
IL22ENSG00000127318ENST00000328087p.?c.186+4T>CUnknown
MTF1ENSG00000188786ENST00000373036p.V543Vc.1629C>TSubstitution - coding silent
DUSP12ENSG00000081721ENST00000367943p.?c.578-8T>CUnknown
SLC38A4ENSG00000139209ENST00000266579p.A333Ac.999C>GSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.?c.1564-8C>TUnknown
PTPN14ENSG00000152104ENST00000366956p.A856Pc.2566G>CSubstitution - Missense
ETV3ENSG00000117036ENST00000368192p.R353Rc.1059G>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.E1733*c.5197G>TSubstitution - Nonsense
ARHGEF5ENSG00000050327ENST00000056217p.P820Pc.2460G>ASubstitution - coding silent
ALADENSG00000148218ENST00000448137p.P60Qc.179C>ASubstitution - Missense
NPSR1ENSG00000187258ENST00000381539p.Q128*c.382C>TSubstitution - Nonsense
MYH10ENSG00000133026ENST00000396239p.L1478Lc.4434A>GSubstitution - coding silent
BCL6ENSG00000113916ENST00000406870p.C254Sc.760T>ASubstitution - Missense
ENST00000395333p.G143Ec.428G>ASubstitution - Missense
NPSR1ENSG00000187258ENST00000360581p.Q128*c.382C>TSubstitution - Nonsense
CDH7ENSG00000081138ENST00000323011p.G657Dc.1970G>ASubstitution - Missense
KLC4ENSG00000137171ENST00000394056p.N584Dc.1750A>GSubstitution - Missense
TFCP2L1ENSG00000115112ENST00000263707p.R78Rc.232C>ASubstitution - coding silent
ENST00000396566p.?c.351+6T>CUnknown
USP7ENSG00000187555ENST00000344836p.P273Lc.818C>TSubstitution - Missense
RAB27BENSG00000041353ENST00000262094p.W113*c.339G>ASubstitution - Nonsense
DYTNENSG00000232125ENST00000452335p.E75Kc.223G>ASubstitution - Missense
ENST00000446248_v68p.?c.1130+10C>TUnknown
RALGAPA2ENSG00000188559ENST00000202677p.I914Vc.2740A>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.A1136Ac.3408C>TSubstitution - coding silent
CLPXENSG00000166855ENST00000300107p.S617Fc.1850C>TSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.L177Lc.531G>ASubstitution - coding silent
OR2M4ENSG00000171180ENST00000306687p.I214Ic.642C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.?c.2416-10C>TUnknown
LRRK2ENSG00000188906ENST00000298910p.?c.2241+8T>AUnknown
ENST00000350997_v71p.P280Pc.840C>ASubstitution - coding silent
GALNT9ENSG00000182870ENST00000328957p.?c.1078-5_1078-1delcgcagUnknown
FSD2ENSG00000186628ENST00000334574p.D642Gc.1925A>GSubstitution - Missense
OR52B4ENSG00000221996ENST00000408920p.G201Rc.601G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.L1283Lc.3849G>ASubstitution - coding silent
VCX3BENSG00000205642ENST00000444481p.E209Qc.625G>CSubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.P53Lc.158C>TSubstitution - Missense
SYTL4ENSG00000102362ENST00000372981p.I171Ic.513C>TSubstitution - coding silent
OTTHUMT00000058758.1p.?c.63-1G>CUnknown
HEPHENSG00000089472ENST00000519389p.?c.1226-7C>TUnknown
DAPK1ENSG00000196730ENST00000469640p.K1289Kc.3867G>ASubstitution - coding silent
ELNENSG00000049540ENST00000358929p.G224Ec.671G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.P4493Sc.13477C>TSubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.C528Cc.1584C>TSubstitution - coding silent
MRPL3ENSG00000114686ENST00000264995p.R156Cc.466C>TSubstitution - Missense
ADCENSG00000142920ENST00000358680p.R62Qc.185G>ASubstitution - Missense
GPATCH2ENSG00000092978ENST00000366934p.V321Vc.963C>TSubstitution - coding silent
IL17AENSG00000112115ENST00000340057p.E80Ec.240G>ASubstitution - coding silent
KMT2EENSG00000005483ENST00000257745p.?c.417-7T>CUnknown
OTOL1ENSG00000182447ENST00000327928p.P321Sc.961C>TSubstitution - Missense
SEPSECSENSG00000109618ENST00000302922p.L284Lc.852G>ASubstitution - coding silent
MAGEB4ENSG00000120289ENST00000378982p.D186Nc.556G>ASubstitution - Missense
MMEENSG00000196549ENST00000360490p.E504Kc.1510G>ASubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000381661p.R266Sc.798A>CSubstitution - Missense
TGFBR2ENSG00000163513ENST00000359013p.M512Lc.1534A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G13468Sc.40402G>ASubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.?c.1473-10T>GUnknown
TP53ENSG00000141510ENST00000455263p.P322fs*22c.960_961insAAInsertion - Frameshift
DYTNENSG00000232125ENST00000452335p.E75Kc.223G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.?c.1199-5C>TUnknown
PCSK2ENSG00000125851ENST00000262545p.A387Tc.1159G>ASubstitution - Missense
CFHENSG00000000971ENST00000367429p.H773Yc.2317C>TSubstitution - Missense
MTF1ENSG00000188786ENST00000373036p.L544Lc.1630C>TSubstitution - coding silent
PLA2G4EENSG00000188089ENST00000413860p.P16Lc.47C>TSubstitution - Missense
TTBK2ENSG00000128881ENST00000267890p.P1140Sc.3418C>TSubstitution - Missense
TGM5ENSG00000104055ENST00000220420p.I313Ic.939C>TSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.K1457Kc.4371G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.V355Vc.1065C>TSubstitution - coding silent
PIK3AP1ENSG00000155629ENST00000339364p.R733Wc.2197C>TSubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.T927Ac.2779A>GSubstitution - Missense
SLC24A3ENSG00000185052ENST00000328041p.E410Kc.1228G>ASubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.Q497Qc.1491A>GSubstitution - coding silent
SORCS2ENSG00000184985ENST00000329016p.G649Ec.1946G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366942p.L1283Lc.3849G>ASubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.Y609Hc.1825T>CSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.E505Kc.1513G>ASubstitution - Missense
ENST00000374173p.P80Qc.239C>ASubstitution - Missense
PIK3AP1ENSG00000155629ENST00000371109p.R332Wc.994C>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.S1041Sc.3123C>TSubstitution - coding silent
MAVSENSG00000088888ENST00000428216p.R102Cc.304C>TSubstitution - Missense
ZNF334ENSG00000198185ENST00000347606p.E573Kc.1717G>ASubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.D475Nc.1423G>ASubstitution - Missense
EGFRENSG00000146648ENST00000344576p.P512Pc.1536C>ASubstitution - coding silent
SLC5A5ENSG00000105641ENST00000222248p.V574Vc.1722G>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.F4424Fc.13272C>TSubstitution - coding silent
MAGI2ENSG00000187391ENST00000354212p.Q1231Hc.3693G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Q9221Pc.27662A>CSubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.I214Ic.642C>TSubstitution - coding silent
PHF12ENSG00000109118ENST00000332830p.V836Mc.2506G>ASubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.P356Sc.1066C>TSubstitution - Missense
RNF148ENSG00000235631ENST00000434824p.S28Gc.82A>GSubstitution - Missense
OSGIN2ENSG00000164823ENST00000297438p.Y103*c.309T>ASubstitution - Nonsense
RBM39ENSG00000131051ENST00000253363p.S125Sc.375C>TSubstitution - coding silent
TLDC2ENSG00000101342ENST00000217320p.G185Gc.555G>ASubstitution - coding silent
ESF1ENSG00000089048ENST00000202816p.L74Fc.220C>TSubstitution - Missense
C1SENSG00000182326ENST00000328916p.?c.518-3T>CUnknown
LRP6ENSG00000070018ENST00000261349p.G326Gc.978T>CSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.I1820Ic.5460C>TSubstitution - coding silent
TMEM62ENSG00000137842ENST00000260403p.A421Ac.1263A>GSubstitution - coding silent
ADCENSG00000142920ENST00000373443p.R62Qc.185G>ASubstitution - Missense
NBEAENSG00000172915ENST00000310336p.P1781Sc.5341C>TSubstitution - Missense
NUF2ENSG00000143228ENST00000367900p.?c.1260+8T>CUnknown
CD248ENSG00000174807ENST00000311330p.Q542Qc.1626G>ASubstitution - coding silent
LRFN4ENSG00000173621ENST00000309602p.S442Sc.1326C>TSubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.N1584Kc.4752C>ASubstitution - Missense
RERGLENSG00000111404ENST00000229002p.E180Kc.538G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.D1059Nc.3175G>ASubstitution - Missense
ENST00000265403_v61p.?c.1308-5T>CUnknown
UGT2B10ENSG00000109181ENST00000265403p.G525Rc.1573G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8779Tc.26337G>ASubstitution - coding silent
TRPC6ENSG00000137672ENST00000344327p.G76Gc.228G>ASubstitution - coding silent
EEF1GENSG00000254772ENST00000329251p.I361Ic.1083C>ASubstitution - coding silent
WHAMMENSG00000156232ENST00000286760p.R733Cc.2197C>TSubstitution - Missense
PRDM4ENSG00000110851ENST00000228437p.L416Lc.1248C>TSubstitution - coding silent
SASS6ENSG00000156876ENST00000287482p.Q73Hc.219G>CSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.G330Ec.989G>ASubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.C528Cc.1584C>TSubstitution - coding silent
FOLH1ENSG00000086205ENST00000256999p.E437Kc.1309G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
DAPK1ENSG00000196730ENST00000358077p.K1264Kc.3792G>ASubstitution - coding silent
TAGAPENSG00000164691ENST00000367066p.I235Ic.705C>TSubstitution - coding silent
ZNF667ENSG00000198046ENST00000292069p.K334Qc.1000A>CSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.?c.2435+7G>AUnknown
ENST00000309305p.H431Yc.1291C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.L415Lc.1245G>TSubstitution - coding silent
ZNF169ENSG00000175787ENST00000395395p.R503Gc.1507C>GSubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.L456Lc.1368G>ASubstitution - coding silent
HCFC2ENSG00000111727ENST00000229330p.P426Lc.1277C>TSubstitution - Missense
AUHENSG00000148090ENST00000375731p.A227Vc.680C>TSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.K910Kc.2730G>ASubstitution - coding silent
ENST00000316490p.K910Kc.2730G>ASubstitution - coding silent
WNT2BENSG00000134245ENST00000369686p.G48Gc.144G>ASubstitution - coding silent
GCLCENSG00000001084ENST00000229416p.P184Sc.550C>TSubstitution - Missense
NFATC1ENSG00000131196ENST00000591814p.F135Fc.405T>CSubstitution - coding silent
MRPS27ENSG00000113048ENST00000261413p.L331Mc.991C>ASubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.A521Tc.1561G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.F192Fc.576C>TSubstitution - coding silent
ENST00000356127p.Q15593Pc.46778A>CSubstitution - Missense
ENST00000356127p.S8904Lc.26711C>TSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.?c.1393-9G>AUnknown
C16orf78ENSG00000166152ENST00000299191p.R82Cc.244C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.A278Tc.832G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P322fs*24c.960_961insAAInsertion - Frameshift
FAM171BENSG00000144369ENST00000304698p.S632Fc.1895C>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.V2338Ac.7013T>CSubstitution - Missense
NUF2ENSG00000143228ENST00000271452p.?c.1260+8T>CUnknown
TYSND1ENSG00000156521ENST00000287078p.T498Ic.1493C>TSubstitution - Missense
ENST00000355746p.Y11Yc.33T>CSubstitution - coding silent
OR10A6ENSG00000175393ENST00000309838p.S161Lc.482C>TSubstitution - Missense
ABCF2ENSG00000033050ENST00000222388p.H96Yc.286C>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.T955Kc.2864C>ASubstitution - Missense
SPATA13ENSG00000182957ENST00000343003p.I385Ic.1155C>TSubstitution - coding silent
ZNF618ENSG00000157657ENST00000288466p.P726Lc.2177C>TSubstitution - Missense
MAP3K10ENSG00000130758ENST00000253055p.G500Gc.1500G>TSubstitution - coding silent
C19orf47ENSG00000160392ENST00000582783p.R110Rc.330T>CSubstitution - coding silent
TRIML1ENSG00000184108ENST00000332517p.E152Gc.455A>GSubstitution - Missense
CYP4F31PENSG00000178206ENST00000416266p.A89Tc.265G>ASubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.K462Qc.1384A>CSubstitution - Missense
TSSC1ENSG00000032389ENST00000382125p.E308Kc.922G>ASubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.L1457Lc.4371A>GSubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.P2432Sc.7294C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P322fs*24c.963_964insAAInsertion - Frameshift
TP53ENSG00000141510ENST00000269305p.P322fs*24c.960_961insAAInsertion - Frameshift
TUBB1ENSG00000101162ENST00000217133p.D448Nc.1342G>ASubstitution - Missense
IGSF9ENSG00000085552ENST00000361509p.G22Gc.66G>ASubstitution - coding silent
OR6A2ENSG00000184933ENST00000332601p.M1Ic.3G>ASubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.D158Nc.472G>ASubstitution - Missense
AGTENSG00000135744ENST00000366667p.F212Fc.636C>TSubstitution - coding silent
RERGLENSG00000111404ENST00000229002p.E180Kc.538G>ASubstitution - Missense
GPATCH2ENSG00000092978ENST00000366935p.V321Vc.963C>TSubstitution - coding silent
KRT4ENSG00000170477ENST00000293774p.S70Lc.209C>TSubstitution - Missense
GYPAENSG00000170180ENST00000360771p.H60Nc.178C>ASubstitution - Missense
RAB3AENSG00000105649ENST00000222256p.?c.229-1G>AUnknown
LRP1BENSG00000168702ENST00000389484p.H4365Yc.13093C>TSubstitution - Missense
RAPGEF5ENSG00000136237ENST00000344041p.D170Nc.508G>ASubstitution - Missense
CD36ENSG00000135218ENST00000394788p.?c.702-9T>CUnknown
GLCCI1ENSG00000106415ENST00000223145p.S290Lc.869C>TSubstitution - Missense
SPATA5ENSG00000145375ENST00000274008p.L665Fc.1993C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.I2819Mc.8457T>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G13401Sc.40201G>ASubstitution - Missense
ENST00000356127p.G19771Sc.59311G>ASubstitution - Missense
ENST00000424147p.G10Gc.30T>ASubstitution - coding silent
HIST1H1AENSG00000124610ENST00000244573p.K193Kc.579G>ASubstitution - coding silent
SU_SgK085p.L224Fc.670C>TSubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.D1581Ec.4743T>GSubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.E382Qc.1144G>CSubstitution - Missense
BTBD8ENSG00000189195ENST00000342818p.S373Sc.1119C>TSubstitution - coding silent
YME1L1ENSG00000136758ENST00000326799p.I621Ic.1863C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.E531Kc.1591G>ASubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.G85Dc.254G>ASubstitution - Missense
PLCB3ENSG00000149782ENST00000279230p.P266Lc.797C>TSubstitution - Missense
ENST00000451649p.?c.781-10T>CUnknown
GRIK4ENSG00000149403ENST00000527524p.P301Sc.901C>TSubstitution - Missense
MTPAPENSG00000107951ENST00000263063p.F197Fc.591C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369348p.L166Lc.498G>ASubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.M510Tc.1529T>CSubstitution - Missense
CCNYENSG00000108100ENST00000374704p.Q74Qc.222G>ASubstitution - coding silent
OR51F1ENSG00000188069ENST00000380383p.P138Rc.413C>GSubstitution - Missense
TMEM71ENSG00000165071ENST00000356838p.P53Hc.158C>ASubstitution - Missense
NME8ENSG00000086288ENST00000199447p.E238Kc.712G>ASubstitution - Missense
DSPENSG00000096696ENST00000379802p.L1822Lc.5464C>TSubstitution - coding silent
ENSG00000179066ENST00000313865p.G15Vc.44G>TSubstitution - Missense
USP38ENSG00000170185ENST00000307017p.A665Tc.1993G>ASubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.A581Tc.1741G>ASubstitution - Missense
SEMA4FENSG00000135622ENST00000357877p.T289Tc.867G>ASubstitution - coding silent
NM_003319p.L25351Lc.76053G>ASubstitution - coding silent
TEAD2ENSG00000074219ENST00000311227p.T17Tc.51G>ASubstitution - coding silent
SPATA13ENSG00000182957ENST00000382095p.I441Ic.1323C>TSubstitution - coding silent
TMCO5AENSG00000166069ENST00000319669p.K222Ec.664A>GSubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.?c.2884-3C>TUnknown
PZPENSG00000126838ENST00000381997p.S1203Cc.3607A>TSubstitution - Missense
CR1LENSG00000197721ENST00000508064p.D304Hc.910G>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.P1356Lc.4067C>TSubstitution - Missense
SPOCK1ENSG00000152377ENST00000394945p.L404Lc.1212G>TSubstitution - coding silent
CERS3ENSG00000154227ENST00000284382p.R111Cc.331C>TSubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.S680Lc.2039C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.P53Lc.158C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000535697p.D397Nc.1189G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.L1542Lc.4626G>ASubstitution - coding silent
CNOT10ENSG00000182973ENST00000454516p.S663Fc.1988C>TSubstitution - Missense
ENST00000303890p.T474Pc.1420A>CSubstitution - Missense
OR1N2ENSG00000171501ENST00000373688p.Y269Cc.806A>GSubstitution - Missense
TNFSF8ENSG00000106952ENST00000223795p.V61Vc.183C>TSubstitution - coding silent
TPOENSG00000115705ENST00000345913p.P512Lc.1535C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000442283p.R1100Cc.3298C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.M2798Ic.8394G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.G924Rc.2770G>ASubstitution - Missense
CERS1ENSG00000223802ENST00000427170p.?c.900+8G>AUnknown
MLC1ENSG00000100427ENST00000395876p.?c.414_423+19del29Unknown
FBXW12ENSG00000164049ENST00000296438p.G370Sc.1108G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.R1324Cc.3970C>TSubstitution - Missense
MARCOENSG00000019169ENST00000327097p.G301Ec.902G>ASubstitution - Missense
GSTCDENSG00000138780ENST00000515279p.P313Lc.938C>TSubstitution - Missense
TCF4ENSG00000196628ENST00000356073p.P202Sc.604C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L31848Lc.95544G>ASubstitution - coding silent
NM_003242p.M487Lc.1459A>TSubstitution - Missense
RBMS3ENSG00000144642ENST00000383767p.M277Ic.831G>ASubstitution - Missense
NPNTENSG00000168743ENST00000379987p.P365Qc.1094C>ASubstitution - Missense
STK17BENSG00000081320ENST00000263955p.P304Lc.911C>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.Q2087*c.6259C>TSubstitution - Nonsense
TRPM2ENSG00000142185ENST00000397928p.R1067Rc.3201C>TSubstitution - coding silent
ENST00000377689p.T202Tc.606G>ASubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.G1025Rc.3073G>ASubstitution - Missense
ENST00000331986p.T4496Tc.13488C>ASubstitution - coding silent
HCN3ENSG00000143630ENST00000368358p.R146*c.436C>TSubstitution - Nonsense
MDM2ENSG00000135679ENST00000462284p.L321Fc.961C>TSubstitution - Missense
ZC3H11AENSG00000058673ENST00000367210p.A586Ac.1758C>TSubstitution - coding silent
MED13LENSG00000123066ENST00000281928p.L742Lc.2224C>TSubstitution - coding silent
GCN1L1ENSG00000089154ENST00000300648p.P1541Pc.4623C>TSubstitution - coding silent
MPLENSG00000117400ENST00000372470p.H412Hc.1236C>TSubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.A1350Ac.4050A>GSubstitution - coding silent
ITGBL1ENSG00000198542ENST00000376180p.D182Nc.544G>ASubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.N1560Kc.4680C>ASubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.?c.146-8C>TUnknown
ZNF641ENSG00000167528ENST00000448928p.P69Lc.206C>TSubstitution - Missense
NM_020328p.A42Dc.125C>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.?c.1564-8C>TUnknown
HOMER2ENSG00000103942ENST00000304231p.G351Gc.1053C>TSubstitution - coding silent
NM_133170.2p.P577Sc.1729C>TSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.P131Sc.391C>TSubstitution - Missense
NPSR1ENSG00000187258ENST00000381553p.Q128*c.382C>TSubstitution - Nonsense
AP1M1ENSG00000072958ENST00000291439p.P257Sc.769C>TSubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.R258Lc.773G>TSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.V45Lc.133G>TSubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.Q408Qc.1224G>ASubstitution - coding silent
DCDC2CENSG00000214866ENST00000399143p.E41Gc.122A>GSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.P53Lc.158C>TSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.G629Rc.1885G>ASubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.A662Tc.1984G>ASubstitution - Missense
LIMS1ENSG00000169756ENST00000393310p.H254Yc.760C>TSubstitution - Missense
ENSG00000182329ENST00000295844p.Q205Qc.615G>ASubstitution - coding silent
MYH10ENSG00000133026ENST00000269243p.L1457Lc.4369T>CSubstitution - coding silent
ANKRD18BENSG00000230453ENST00000290943p.?c.206+4G>CUnknown
CAMSAP3ENSG00000076826ENST00000160298p.?c.1049+10C>TUnknown
COL4A6ENSG00000197565ENST00000334504p.?c.1427-5C>GUnknown
RBFOX1ENSG00000078328ENST00000311745p.E184Kc.550G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.E164Kc.490G>ASubstitution - Missense
KIAA0430ENSG00000166783ENST00000396368p.T1021Tc.3063C>GSubstitution - coding silent
VAV3ENSG00000134215ENST00000370056p.G675Ec.2024G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.M3565Tc.10694T>CSubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.G344Ec.1031G>ASubstitution - Missense
NM_000696.2p.G470Gc.1410C>TSubstitution - coding silent
CYB5R2ENSG00000166394ENST00000299498p.R6Kc.17G>ASubstitution - Missense
ENST00000327087_v68p.A223Vc.668C>TSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.?c.2548-10T>CUnknown
ENST00000368915p.D1059Nc.3175G>ASubstitution - Missense
IFI44LENSG00000137959ENST00000342282p.D81Nc.241G>ASubstitution - Missense
BMP2KENSG00000138756ENST00000335016p.D743Yc.2227G>TSubstitution - Missense
VN1R1ENSG00000178201ENST00000321039p.L66Lc.198C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.L1501Lc.4503G>ASubstitution - coding silent
NLRC5ENSG00000140853ENST00000262510p.V291Vc.873C>TSubstitution - coding silent
CPN2ENSG00000178772ENST00000323830p.L164Fc.490C>TSubstitution - Missense
CRISP3ENSG00000096006ENST00000263045p.G126Cc.376G>TSubstitution - Missense
TAP2ENSG00000204267ENST00000374897p.S445Fc.1334C>TSubstitution - Missense
ENST00000372796p.T498Pc.1492A>CSubstitution - Missense
GGA2ENSG00000103365ENST00000309859p.S413Sc.1239T>CSubstitution - coding silent
EMR3ENSG00000131355ENST00000253673p.G471Sc.1411G>ASubstitution - Missense
SERPINI2ENSG00000114204ENST00000476257p.F5Fc.15C>TSubstitution - coding silent
MUSKENSG00000030304ENST00000374448p.E414Kc.1240G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P322fs*24c.963_964insAAInsertion - Frameshift
SORCS2ENSG00000184985ENST00000507866p.G821Ec.2462G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.?c.8266-7A>GUnknown
CACNA1IENSG00000100346ENST00000402142p.L1536Lc.4608G>ASubstitution - coding silent
MAGEE2ENSG00000186675ENST00000373359p.E464Kc.1390G>ASubstitution - Missense
TBL2ENSG00000106638ENST00000305632p.Q65*c.193C>TSubstitution - Nonsense
TTC30BENSG00000196659ENST00000408939p.K411Nc.1233G>TSubstitution - Missense
ENST00000253720p.?c.1035+7G>AUnknown
ENST00000314140_v61p.A12Ac.36C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.L95Lc.285G>ASubstitution - coding silent
GOLGA3ENSG00000090615ENST00000204726p.?c.2548-10T>CUnknown
RHOHENSG00000168421ENST00000505618p.G61Sc.181G>ASubstitution - Missense
DEGS1ENSG00000143753ENST00000391877p.S208Fc.623C>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.G330Ec.989G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.R182Qc.545G>ASubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.R254*c.760C>TSubstitution - Nonsense
KMT2EENSG00000005483ENST00000476671p.?c.417-7T>CUnknown
MPLENSG00000117400ENST00000413998p.H412Hc.1236C>TSubstitution - coding silent
CCDC175ENSG00000151838ENST00000537690p.R756Hc.2267G>ASubstitution - Missense
MPP7ENSG00000150054ENST00000445954p.R237Qc.710G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.K1264Kc.3792G>ASubstitution - coding silent
LRBAENSG00000198589ENST00000357115p.M147Ic.441G>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.K446Kc.1338A>GSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.?c.13560+3A>CUnknown
SLC12A9ENSG00000146828ENST00000354161p.N446Sc.1337A>GSubstitution - Missense
ERCC1ENSG00000012061ENST00000300853p.?c.603-6T>CUnknown
SU_SPEGp.V1416Vc.4248G>ASubstitution - coding silent
PRKAR1AENSG00000108946ENST00000358598p.V36fs*9c.103_104insTInsertion - Frameshift
CCDC121ENSG00000176714ENST00000394775p.E395Ec.1185A>GSubstitution - coding silent
ENST00000405167p.S1640Lc.4919C>TSubstitution - Missense
ENST00000405167p.T2795Sc.8383A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.Q9288Pc.27863A>CSubstitution - Missense
RIOK3ENSG00000101782ENST00000339486p.?c.1013+6G>TUnknown
BSNENSG00000164061ENST00000296452p.S252Sc.756C>TSubstitution - coding silent
ENST00000399773_v68p.R120Kc.359G>ASubstitution - Missense
OSGIN2ENSG00000164823ENST00000451899p.Y147*c.441T>ASubstitution - Nonsense
NUGGCENSG00000189233ENST00000413272p.Q713Kc.2137C>ASubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.Q713Kc.2137C>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.?c.1430-5C>GUnknown
LIN28AENSG00000131914ENST00000326279p.A32Vc.95C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G5829Ec.17486G>ASubstitution - Missense
MACROD2ENSG00000172264ENST00000378058p.?c.280+1G>AUnknown
ERBB4ENSG00000178568ENST00000402597p.A1126Ac.3378C>TSubstitution - coding silent
TMCO5AENSG00000166069ENST00000319669p.K223Kc.669G>ASubstitution - coding silent
MDM2ENSG00000135679ENST00000462284p.L321Fc.961C>TSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.K316Kc.948G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.G133Gc.399G>ASubstitution - coding silent
PZPENSG00000126838ENST00000261336p.S1417Cc.4249A>TSubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.?c.5057+7C>AUnknown
VCAM1ENSG00000162692ENST00000294728p.G586*c.1756G>TSubstitution - Nonsense
ENST00000316490_v65p.K910Kc.2730G>ASubstitution - coding silent
ENST00000328843_v70p.L3824Lc.11470C>TSubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.Q497Qc.1491A>GSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P322fs*>21c.963_964insAAInsertion - Frameshift
TMEM71ENSG00000165071ENST00000377901p.P53Hc.158C>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.G571Gc.1713G>ASubstitution - coding silent
OTOL1ENSG00000182447ENST00000327928p.K414Nc.1242G>CSubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.P53Lc.158C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.P53Lc.158C>TSubstitution - Missense
CCDC125ENSG00000183323ENST00000396496p.S11*c.32C>GSubstitution - Nonsense
CUX1ENSG00000257923ENST00000292535p.?c.2907+7G>TUnknown
PCLOENSG00000186472ENST00000333891p.P4493Sc.13477C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S761Tc.2282G>CSubstitution - Missense
TRIM41ENSG00000146063ENST00000351937p.?c.814-6C>TUnknown
VCX3BENSG00000205642ENST00000381029p.E207Qc.619G>CSubstitution - Missense
MUSKENSG00000030304ENST00000189978p.E420Kc.1258G>ASubstitution - Missense
MUSKENSG00000030304ENST00000374438p.G5Ec.14G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.R1190Qc.3569G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.L886Lc.2658C>TSubstitution - coding silent
TCF4ENSG00000196628ENST00000544241p.P131Sc.391C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.F1877Fc.5631C>TSubstitution - coding silent
SOX7ENSG00000171056ENST00000304501p.S41Sc.123C>GSubstitution - coding silent
ABCA1ENSG00000165029ENST00000423487p.?c.721-6T>CUnknown
SYTL4ENSG00000102362ENST00000372989p.I171Ic.513C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.F199Fc.597C>TSubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.I221Mc.663A>GSubstitution - Missense
NPNTENSG00000168743ENST00000305572p.P365Qc.1094C>ASubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.F961Lc.2883C>ASubstitution - Missense
CCDC121ENSG00000176714ENST00000324364p.E233Ec.699A>GSubstitution - coding silent
KIF13AENSG00000137177ENST00000259711p.D1629Ec.4887T>GSubstitution - Missense
DSC2ENSG00000134755ENST00000251081p.S824Lc.2471C>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S885Sc.2655A>CSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.I914Vc.2740A>GSubstitution - Missense
C3ENSG00000125730ENST00000245907p.?c.683-4C>GUnknown
MUC16ENSG00000181143ENST00000397910p.T8863Tc.26589C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.G5829Ec.17486G>ASubstitution - Missense
VAV3ENSG00000134215ENST00000415432p.G115Ec.344G>ASubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.K316Kc.948G>ASubstitution - coding silent
MPP7ENSG00000150054ENST00000375732p.R362Qc.1085G>ASubstitution - Missense
HPCAL4ENSG00000116983ENST00000372844p.F22Lc.64T>CSubstitution - Missense
PRB1ENSG00000251655ENST00000500254p.P101Lc.302C>TSubstitution - Missense
ADCENSG00000142920ENST00000398167p.R62Qc.185G>ASubstitution - Missense
MON2ENSG00000061987ENST00000393632p.V1341Vc.4023T>CSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.A224Vc.671C>TSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.K937Kc.2811G>ASubstitution - coding silent
SLC12A9ENSG00000146828ENST00000540482p.N446Sc.1337A>GSubstitution - Missense
PRKCBENSG00000166501ENST00000321728p.D475Nc.1423G>ASubstitution - Missense
ZNF19ENSG00000157429ENST00000288177p.G48Wc.142G>TSubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.C1267Rc.3799T>CSubstitution - Missense
ENST00000458336p.S445Fc.1334C>TSubstitution - Missense
SERINC3ENSG00000132824ENST00000255175p.P429Sc.1285C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.R1075Cc.3223C>TSubstitution - Missense
SLC7A14ENSG00000013293ENST00000231706p.G741Sc.2221G>ASubstitution - Missense
RBFAENSG00000101546ENST00000306735p.G14Dc.41G>ASubstitution - Missense
NETO1ENSG00000166342ENST00000327305p.I135Nc.404T>ASubstitution - Missense
NETO1ENSG00000166342ENST00000397929p.I134Nc.401T>ASubstitution - Missense
ILDR1ENSG00000145103ENST00000344209p.R221Cc.661C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P4493Sc.13477C>TSubstitution - Missense
HGFENSG00000019991ENST00000222390p.I147Mc.441C>GSubstitution - Missense
DKK4ENSG00000104371ENST00000220812p.Q124Qc.372A>GSubstitution - coding silent
LIMS1ENSG00000169756ENST00000542845p.H316Yc.946C>TSubstitution - Missense
TMX4ENSG00000125827ENST00000246024p.G81Sc.241G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2789Ic.8366G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.L25476Lc.76428G>ASubstitution - coding silent
WSCD1ENSG00000179314ENST00000317744p.N364Sc.1091A>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S1013Sc.3039A>CSubstitution - coding silent
ZSWIM2ENSG00000163012ENST00000295131p.G506Gc.1518G>ASubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000446248p.?c.1130+9C>TUnknown
INO80ENSG00000128908ENST00000361937p.?c.4454-7C>TUnknown
SIK2ENSG00000170145ENST00000304987p.G497Wc.1489G>TSubstitution - Missense
MKXENSG00000150051ENST00000375790p.M242Ic.726G>TSubstitution - Missense
C11orf65ENSG00000166323ENST00000393084p.V29Vc.87C>TSubstitution - coding silent
LINGO4ENSG00000213171ENST00000368820p.E470Kc.1408G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.R423Rc.1269A>GSubstitution - coding silent
RAG2ENSG00000175097ENST00000311485p.D450Nc.1348G>ASubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.Y18Dc.52T>GSubstitution - Missense
CR1LENSG00000197721ENST00000294997p.D312Hc.934G>CSubstitution - Missense
OR5F1ENSG00000149133ENST00000278409p.S312Fc.935C>TSubstitution - Missense


COSMIC

1 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
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense12068308