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VAL - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

596 mutations reported
202 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
PLIN4ENSG00000167676ENST00000301286p.L375fs*111c.1121_1122insGInsertion - Frameshift
CCDC90BENSG00000137500ENST00000529689p.T52Tc.156T>CSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.D5149Ac.15446A>CSubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.D14Hc.40G>CSubstitution - Missense
COL4A3BPENSG00000113163ENST00000380494p.R728Rc.2184A>GSubstitution - coding silent
TTC39BENSG00000155158ENST00000512701p.S580Cc.1739C>GSubstitution - Missense
UBXN4ENSG00000144224ENST00000272638p.E464Gc.1391A>GSubstitution - Missense
RNF212ENSG00000178222ENST00000433731p.R9Rc.27C>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.H1910Qc.5730C>GSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.N11Hc.31A>CSubstitution - Missense
CPA2ENSG00000158516ENST00000222481p.Y318*c.954C>ASubstitution - Nonsense
LPIN1ENSG00000134324ENST00000449576p.R468Gc.1402A>GSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000397798p.I187Tc.560T>CSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.Q866Pc.2597A>CSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000370217p.A328fs*11c.975_976insAInsertion - Frameshift
APBB2ENSG00000163697ENST00000295974p.R487Lc.1460G>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.G1148Gc.3444A>CSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.L585Lc.1755C>TSubstitution - coding silent
TWISTNBENSG00000105849ENST00000222567p.I270Ic.810C>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.?c.1400+7C>AUnknown
ITPR1ENSG00000150995ENST00000302640p.A576Ac.1728T>GSubstitution - coding silent
PHKA2ENSG00000044446ENST00000379942p.R727Cc.2179C>TSubstitution - Missense
TPOENSG00000115705ENST00000539820p.R60Gc.178A>GSubstitution - Missense
KLHL6ENSG00000172578ENST00000341319p.R98Mc.293G>TSubstitution - Missense
RCAN3ENSG00000117602ENST00000374395p.P154Lc.461C>TSubstitution - Missense
ENST00000316851_v65p.G754Rc.2260G>ASubstitution - Missense
PVRL1ENSG00000110400ENST00000341398p.K190Kc.570A>GSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.P1839Tc.5515C>ASubstitution - Missense
TMEM53ENSG00000126106ENST00000372244p.P69Lc.206C>TSubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.P533Pc.1599G>ASubstitution - coding silent
MYBENSG00000118513ENST00000341911p.Y324Hc.970T>CSubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.R421Rc.1263G>ASubstitution - coding silent
XPO4ENSG00000132953ENST00000255305p.C796*c.2388T>ASubstitution - Nonsense
RAVER2ENSG00000162437ENST00000371072p.T467Mc.1400C>TSubstitution - Missense
ENST00000314475_v68p.Y174Cc.521A>GSubstitution - Missense
DMAP1ENSG00000178028ENST00000437511p.G85Rc.253G>ASubstitution - Missense
SDCCAG8ENSG00000054282ENST00000366541p.E258Kc.772G>ASubstitution - Missense
FMNL3ENSG00000161791ENST00000335154p.R216Cc.646C>TSubstitution - Missense
TTC39BENSG00000155158ENST00000380850p.S567Cc.1700C>GSubstitution - Missense
YTHDC2ENSG00000047188ENST00000161863p.L1111Hc.3332T>ASubstitution - Missense
SU_EPHA6p.A800Vc.2399C>TSubstitution - Missense
PITPNBENSG00000180957ENST00000335272p.D237Nc.709G>ASubstitution - Missense
PRDM14ENSG00000147596ENST00000276594p.G367Ec.1100G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.S846Sc.2538T>CSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.L977Lc.2931C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.V5222Mc.15664G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
FAM13BENSG00000031003ENST00000425075p.V58Ac.173T>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.A4092Vc.12275C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.P2681Tc.8041C>ASubstitution - Missense
NM_001787p.K36Kc.108A>GSubstitution - coding silent
SLC22A24ENSG00000197658ENST00000417740p.D112Dc.336C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000444484p.A131Vc.392C>TSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.I48Ic.144C>TSubstitution - coding silent
KIAA1429ENSG00000164944ENST00000297591p.P1449Pc.4347A>GSubstitution - coding silent
XPO4ENSG00000132953ENST00000255305p.E1000Dc.3000G>CSubstitution - Missense
PVRL1ENSG00000110400ENST00000264025p.K190Kc.570A>GSubstitution - coding silent
WDR33ENSG00000136709ENST00000322313p.H360Lc.1079A>TSubstitution - Missense
NEU2ENSG00000115488ENST00000233840p.A207Vc.620C>TSubstitution - Missense
UBA1ENSG00000130985ENST00000377351p.?c.1575+10G>CUnknown
NCAM1ENSG00000149294ENST00000316851p.G754Rc.2260G>ASubstitution - Missense
GAS2L3ENSG00000139354ENST00000266754p.G272Gc.816A>TSubstitution - coding silent
UBE4BENSG00000130939ENST00000343090p.S181fs*8c.540_541insCInsertion - Frameshift
BAI3ENSG00000135298ENST00000238918p.A498Ac.1494T>CSubstitution - coding silent
FUBP1ENSG00000162613ENST00000370767p.V597Ic.1789G>ASubstitution - Missense
GPR161ENSG00000143147ENST00000546300p.T216Ic.647C>TSubstitution - Missense
ZNF157ENSG00000147117ENST00000377073p.I493Vc.1477A>GSubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.?c.1137+1G>AUnknown
CCDC132ENSG00000004766ENST00000305866p.?c.226-7T>CUnknown
OR13J1ENSG00000168828ENST00000377981p.S230Sc.690G>ASubstitution - coding silent
FUBP1ENSG00000162613ENST00000370768p.V597Ic.1789G>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.L960fs*>17c.2879delTDeletion - Frameshift
GPER1ENSG00000164850ENST00000397088p.L348Lc.1044G>ASubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
KCNJ14ENSG00000182324ENST00000391884p.R424Gc.1270C>GSubstitution - Missense
ENST00000334050p.R167Rc.501T>GSubstitution - coding silent
KCNJ13ENSG00000115474ENST00000233826p.Q210Qc.630G>ASubstitution - coding silent
SYNJ2ENSG00000078269ENST00000449859p.R320*c.958C>TSubstitution - Nonsense
NEUROG2ENSG00000178403ENST00000313341p.R89Rc.267C>TSubstitution - coding silent
NEUROD4ENSG00000123307ENST00000242994p.Q121Pc.362A>CSubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.V21Fc.61G>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.V1600Mc.4798G>ASubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.N172Nc.516C>TSubstitution - coding silent
UBE4BENSG00000130939ENST00000377157p.S65fs*8c.192_193insCInsertion - Frameshift
RPS6KC1ENSG00000136643ENST00000366960p.D788Gc.2363A>GSubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.K621fs*7c.1861_1862delAADeletion - Frameshift
CEP70ENSG00000114107ENST00000264982p.S240fs*19c.718_721delTCAGDeletion - Frameshift
RNF212ENSG00000178222ENST00000382968p.R9Rc.27C>TSubstitution - coding silent
KATNAL2ENSG00000167216ENST00000245121p.?c.1159-7G>TUnknown
BCL2ENSG00000171791ENST00000398117p.H55Pc.164A>CSubstitution - Missense
BCL2ENSG00000171791ENST00000444484p.N11Hc.31A>CSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
PITPNC1ENSG00000154217ENST00000580974p.?c.295-3C>TUnknown
MYBENSG00000118513ENST00000316528p.Y324Hc.970T>CSubstitution - Missense
UBE2UENSG00000177414ENST00000371077p.?c.148+4T>AUnknown
BCL6ENSG00000113916ENST00000406870p.N342Yc.1024A>TSubstitution - Missense
FKBP9ENSG00000122642ENST00000242209p.R442Qc.1325G>ASubstitution - Missense
CFHR4ENSG00000134365ENST00000367416p.?c.796+3A>CUnknown
PVRL1ENSG00000110400ENST00000340882p.K190Kc.570A>GSubstitution - coding silent
FESENSG00000182511ENST00000328850p.I567Lc.1699A>CSubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.T240Sc.719C>GSubstitution - Missense
PACS2ENSG00000179364ENST00000325438p.?c.2031+8C>TUnknown
ENST00000557886_v68p.N167Sc.500A>GSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.R392*c.1174C>TSubstitution - Nonsense
STRNENSG00000115808ENST00000263918p.C765Sc.2293T>ASubstitution - Missense
BCL2ENSG00000171791ENST00000444484p.G5Ec.14G>ASubstitution - Missense
STRADAENSG00000266173ENST00000336174p.R367Rc.1101G>ASubstitution - coding silent
PHF20ENSG00000025293ENST00000374012p.L822Lc.2464C>TSubstitution - coding silent
TLE2ENSG00000065717ENST00000262953p.S545fs*51c.1632_1633delTTDeletion - Frameshift
TBC1D17ENSG00000104946ENST00000221543p.?c.1127-4G>AUnknown
TPOENSG00000115705ENST00000337415p.R60Gc.178A>GSubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.T101Ic.302C>TSubstitution - Missense
ZNF430ENSG00000118620ENST00000261560p.C17Cc.51C>TSubstitution - coding silent
SLC1A5ENSG00000105281ENST00000434726p.?c.3+10A>CUnknown
CASRENSG00000036828ENST00000296154p.D217Nc.649G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
SLC22A12ENSG00000197891ENST00000377574p.A368Sc.1102G>TSubstitution - Missense
ENST00000355911p.M267Tc.800T>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
CNPY3ENSG00000137161ENST00000372836p.K229delKc.679_681delAAGDeletion - In frame
ICA1ENSG00000003147ENST00000402384p.A54Ac.162G>ASubstitution - coding silent
NM_147171.1p.K58Kc.174A>GSubstitution - coding silent
APBB2ENSG00000163697ENST00000513140p.R466Lc.1397G>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000295246p.R275Wc.823C>TSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000342704p.I207Tc.620T>CSubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.P573Pc.1719G>ASubstitution - coding silent
ESYT2ENSG00000117868ENST00000251527p.R811Kc.2432G>ASubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.A503Vc.1508C>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.V1607Gc.4820T>GSubstitution - Missense
NM_016340.2p.D863Ec.2589T>ASubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.G361Vc.1082G>TSubstitution - Missense
CAP1ENSG00000131236ENST00000372792p.P35Lc.104C>TSubstitution - Missense
POMT2ENSG00000009830ENST00000261534p.V484Vc.1452C>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.F1116Fc.3348C>TSubstitution - coding silent
SLC22A24ENSG00000197658ENST00000326192p.D112Dc.336C>TSubstitution - coding silent
GLB1L3ENSG00000166105ENST00000389887p.G293Ec.878G>ASubstitution - Missense
NRAPENSG00000197893ENST00000359988p.D1621Dc.4863T>CSubstitution - coding silent
UGT1A9ENSG00000241119ENST00000354728p.S165Sc.495C>TSubstitution - coding silent
ENST00000377445p.?c.431-1C>GUnknown
XPO7ENSG00000130227ENST00000434536p.Y900Hc.2698T>CSubstitution - Missense
TTC27ENSG00000018699ENST00000317907p.K726Rc.2177A>GSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.R159Wc.475C>TSubstitution - Missense
PROM2ENSG00000155066ENST00000317668p.T354Tc.1062C>TSubstitution - coding silent
PWP2ENSG00000241945ENST00000291576p.I118Vc.352A>GSubstitution - Missense
ENST00000433634p.G219Rc.655G>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.K630Tc.1889A>CSubstitution - Missense
PAK4ENSG00000130669ENST00000358301p.P224Pc.672T>CSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000296794p.P186Lc.557C>TSubstitution - Missense
ALG12ENSG00000182858ENST00000330817p.L406Vc.1216C>GSubstitution - Missense
LIMD1ENSG00000144791ENST00000273317p.G369Ec.1106G>ASubstitution - Missense
SESTD1ENSG00000187231ENST00000428443p.D197fs*3c.588_604del17Deletion - Frameshift
DISP2ENSG00000140323ENST00000267889p.R1188Wc.3562C>TSubstitution - Missense
ZCCHC11ENSG00000134744ENST00000257177p.R376Cc.1126C>TSubstitution - Missense
RABGGTAENSG00000100949ENST00000399409p.K372Ec.1114A>GSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.D523Nc.1567G>ASubstitution - Missense
DYSFENSG00000135636ENST00000410020p.?c.3229-4G>AUnknown
ENST00000544929p.P67Lc.200C>TSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.G5Ec.14G>ASubstitution - Missense
RNF152ENSG00000176641ENST00000312828p.S107Ac.319T>GSubstitution - Missense
CCDC132ENSG00000004766ENST00000251739p.?c.226-7T>CUnknown
APPENSG00000142192ENST00000346798p.T603Tc.1809C>TSubstitution - coding silent
UMODL1ENSG00000177398ENST00000400424p.E965Gc.2894A>GSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.P488Pc.1464G>ASubstitution - coding silent
CHRNA2ENSG00000120903ENST00000407991p.C247Rc.739T>CSubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.M492Ic.1476G>ASubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.L931Lc.2793G>ASubstitution - coding silent
POLR2BENSG00000047315ENST00000381227p.A25Ac.75A>GSubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.C192*c.576T>ASubstitution - Nonsense
ZNF708ENSG00000182141ENST00000356929p.L40Lc.118C>TSubstitution - coding silent
GPR161ENSG00000143147ENST00000367835p.T330Ic.989C>TSubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.H758Hc.2274C>TSubstitution - coding silent
NM_175736.3p.R216Cc.646C>TSubstitution - Missense
LCORENSG00000196233ENST00000371103p.A371Ac.1113T>GSubstitution - coding silent
HYAL2ENSG00000068001ENST00000395139p.R192Cc.574C>TSubstitution - Missense
MYADMENSG00000179820ENST00000391768p.S133Lc.398C>TSubstitution - Missense
PLIN2ENSG00000147872ENST00000276914p.Y82Cc.245A>GSubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.P870Rc.2609C>GSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.H1910Qc.5730C>GSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.G5Ec.14G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.V1809Ic.5425G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.V2706Ic.8116G>ASubstitution - Missense
ENST00000332558_v68p.I24Tc.71T>CSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.C192*c.576T>ASubstitution - Nonsense
C22orf39ENSG00000242259ENST00000542103p.?c.135+2T>GUnknown
SOGA1ENSG00000149639ENST00000237536p.N1109Tc.3326A>CSubstitution - Missense
RPS6KC1ENSG00000136643ENST00000543354p.D491Gc.1472A>GSubstitution - Missense
NEBENSG00000183091ENST00000397345p.V6923Mc.20767G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.A4971Tc.14911G>ASubstitution - Missense
FAM160B2ENSG00000158863ENST00000289921p.Y503Nc.1507T>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.S754Sc.2262C>TSubstitution - coding silent
PTERENSG00000165983ENST00000378000p.F33Sc.98T>CSubstitution - Missense
UNKLENSG00000059145ENST00000397462p.D725Nc.2173G>ASubstitution - Missense
PNLIPRP3ENSG00000203837ENST00000369230p.N120Nc.360T>CSubstitution - coding silent
ENST00000432996p.R946Sc.2838A>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.D507Nc.1519G>ASubstitution - Missense
MYRIPENSG00000170011ENST00000302541p.V818Lc.2452G>TSubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.R1224Hc.3671G>ASubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.R758Hc.2273G>ASubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.G155Gc.465G>ASubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.E1165Gc.3494A>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.I656Mc.1968A>GSubstitution - Missense
GTSF1LENSG00000124196ENST00000373003p.T131Tc.393G>ASubstitution - coding silent
SMAP1ENSG00000112305ENST00000370452p.?c.708+8A>GUnknown
NM_002467.2p.Q113_D118delQSFICDc.335_352del18Deletion - In frame
ENST00000330241p.L24Rc.71T>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
OGNENSG00000106809ENST00000375561p.I79Ic.237A>CSubstitution - coding silent
GABRB2ENSG00000145864ENST00000274547p.G194Gc.582C>ASubstitution - coding silent
AKR7A3ENSG00000162482ENST00000361640p.R64Qc.191G>ASubstitution - Missense
DHRS3ENSG00000162496ENST00000376223p.T88Tc.264T>CSubstitution - coding silent
FLT1ENSG00000102755ENST00000541932p.A80Gc.239C>GSubstitution - Missense
PAAF1ENSG00000175575ENST00000310571p.N234Nc.702C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.G155Ac.464G>CSubstitution - Missense
BCL2ENSG00000171791ENST00000444484p.P91Sc.271C>TSubstitution - Missense
ARHGDIAENSG00000141522ENST00000269321p.F158Fc.474C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000409386p.?c.1433+7C>AUnknown
MAGEC1ENSG00000155495ENST00000285879p.*1143Lc.3428G>TNonstop extension
PITPNBENSG00000180957ENST00000455418p.D239Nc.715G>ASubstitution - Missense
PISDENSG00000241878ENST00000382151p.C147fs*7c.441_442delTGDeletion - Frameshift
BCL2ENSG00000171791ENST00000398117p.L86Vc.256C>GSubstitution - Missense
ANKRD18BENSG00000230453ENST00000290943p.A699Vc.2096C>TSubstitution - Missense
ENSG00000183470ENST00000332558p.I24Tc.71T>CSubstitution - Missense
LRRC4BENSG00000131409ENST00000389201p.K159Rc.476A>GSubstitution - Missense
PEX5ENSG00000139197ENST00000434354p.V50Vc.150G>CSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.L2184Lc.6552G>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.M4007Lc.12019A>CSubstitution - Missense
ENST00000394831p.Y676Fc.2027A>TSubstitution - Missense
SMAP1ENSG00000112305ENST00000370455p.?c.789+8A>GUnknown
GRAP2ENSG00000100351ENST00000344138p.D101Dc.303C>TSubstitution - coding silent
NM_014959.1p.Y19Sc.56A>CSubstitution - Missense
RNF212ENSG00000178222ENST00000333673p.R9Rc.27C>TSubstitution - coding silent
SLC20A2ENSG00000168575ENST00000342228p.D334Nc.1000G>ASubstitution - Missense
TUSC3ENSG00000104723ENST00000503731p.?c.426+9T>AUnknown
C22orf39ENSG00000242259ENST00000399562p.?c.24+2T>GUnknown
TDRD5ENSG00000162782ENST00000444136p.E324Kc.970G>ASubstitution - Missense
DENND5BENSG00000170456ENST00000306833p.L746Fc.2238A>CSubstitution - Missense
KLHL6ENSG00000172578ENST00000341319p.T72Rc.215C>GSubstitution - Missense
FKBP9ENSG00000122642ENST00000490776p.R210Qc.629G>ASubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.Y1325Hc.3973T>CSubstitution - Missense
CYP4B1ENSG00000142973ENST00000271153p.F117Vc.349T>GSubstitution - Missense
DENND5BENSG00000170456ENST00000389082p.L711Fc.2133A>CSubstitution - Missense
GPR161ENSG00000143147ENST00000537209p.T350Ic.1049C>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.C1893Gc.5677T>GSubstitution - Missense
VENTXENSG00000151650ENST00000325980p.T254Mc.761C>TSubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.A1751Vc.5252C>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.P138Lc.413C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.G1141Gc.3423A>CSubstitution - coding silent
GAS2L1ENSG00000185340ENST00000341313p.A86Sc.256G>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.E569Ec.1707G>ASubstitution - coding silent
TRPV6ENSG00000165125ENST00000359396p.D717Dc.2151C>TSubstitution - coding silent
ENST00000237536_v68p.N1109Tc.3326A>CSubstitution - Missense
SMG9ENSG00000105771ENST00000270066p.P124Pc.372A>CSubstitution - coding silent
GABRB2ENSG00000145864ENST00000353437p.G194Gc.582C>ASubstitution - coding silent
HIST1H2BOENSG00000196331ENST00000303806p.Y122Yc.366C>TSubstitution - coding silent
SYDE2ENSG00000097096ENST00000341460p.T1038Ac.3112A>GSubstitution - Missense
CDCP2ENSG00000157211ENST00000371330p.N100Kc.300C>ASubstitution - Missense
FLT1ENSG00000102755ENST00000539099p.A80Gc.239C>GSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1176Lc.3527C>TSubstitution - Missense
GOLGA6L19ENSG00000259243ENST00000557886p.N167Sc.500A>GSubstitution - Missense
IFIT2ENSG00000119922ENST00000371826p.V295Dc.884T>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.T3508Sc.10522A>TSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.P1032Rc.3095C>GSubstitution - Missense
SLC13A1ENSG00000081800ENST00000194130p.T124Mc.371C>TSubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.V442Lc.1324G>CSubstitution - Missense
NFIBENSG00000147862ENST00000397581p.V422Lc.1264G>CSubstitution - Missense
XM_293293.1p.S56Cc.166A>TSubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.K785Ec.2353A>GSubstitution - Missense
LACTB2ENSG00000147592ENST00000522447p.T172Mc.515C>TSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.R334Pc.1001G>CSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.A131Vc.392C>TSubstitution - Missense
FKBP9ENSG00000122642ENST00000538336p.R495Qc.1484G>ASubstitution - Missense
ECT2ENSG00000114346ENST00000540509p.?c.2245+8G>AUnknown
MYCENSG00000136997ENST00000377970p.P75Ac.223C>GSubstitution - Missense
NM_133170.2p.Q898Pc.2693A>CSubstitution - Missense
MYBENSG00000118513ENST00000367814p.Y324Hc.970T>CSubstitution - Missense
ECT2ENSG00000114346ENST00000232458p.?c.2152+8G>AUnknown
GABRG2ENSG00000113327ENST00000356592p.M96Tc.287T>CSubstitution - Missense
ENST00000251268_v61p.L1044Lc.3132C>TSubstitution - coding silent
GRIK5ENSG00000105737ENST00000262895p.V106Mc.316G>ASubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.V106Mc.316G>ASubstitution - Missense
TCF3ENSG00000071564ENST00000344749p.N551Kc.1653T>GSubstitution - Missense
COG7ENSG00000168434ENST00000307149p.M600Ic.1800G>ASubstitution - Missense
DNASE1L2ENSG00000167968ENST00000320700p.I191Mc.573C>GSubstitution - Missense
SNX31ENSG00000174226ENST00000311812p.E389Kc.1165G>ASubstitution - Missense
RNF216ENSG00000011275ENST00000389902p.D796Dc.2388T>CSubstitution - coding silent
DDCENSG00000132437ENST00000357936p.H348Hc.1044T>CSubstitution - coding silent
C7orf65ENSG00000221845ENST00000408988p.L134Fc.400C>TSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.F759Fc.2277C>TSubstitution - coding silent
BCRENSG00000186716ENST00000305877p.R199Hc.596G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
EVCENSG00000072840ENST00000264956p.A774Vc.2321C>TSubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.?c.1695+10A>GUnknown
NEBENSG00000183091ENST00000397345p.A4971Tc.14911G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.V6923Mc.20767G>ASubstitution - Missense
TPOENSG00000115705ENST00000345913p.R60Gc.178A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.L303fs*111c.905_906insGInsertion - Frameshift
PPP1R16BENSG00000101445ENST00000299824p.D100Dc.300C>TSubstitution - coding silent
KLHL6ENSG00000172578ENST00000341319p.N60Tc.179A>CSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.S939Sc.2817T>CSubstitution - coding silent
ZNF618ENSG00000157657ENST00000288466p.S846Sc.2538T>CSubstitution - coding silent
C9orf43ENSG00000157653ENST00000374165p.R274*c.820C>TSubstitution - Nonsense
NM_002467.2p.P60Ac.178C>GSubstitution - Missense
MYCENSG00000136997ENST00000377970p.Q128_D133delQSFICDc.380_397del18Deletion - In frame
MYCENSG00000136997ENST00000377970p.S217Nc.650G>ASubstitution - Missense
NM_002467.2p.S202Nc.605G>ASubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.L980Lc.2940G>ASubstitution - coding silent
ZNF354BENSG00000178338ENST00000322434p.T489Tc.1467T>GSubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.?c.1112-5T>CUnknown
OPA1ENSG00000198836ENST00000361510p.R836Qc.2507G>ASubstitution - Missense
KLHL6ENSG00000172578ENST00000341319p.I80fs*23c.238_261>GComplex - frameshift
SRGAP1ENSG00000196935ENST00000357825p.H666Hc.1998C>TSubstitution - coding silent
ANKRD42ENSG00000137494ENST00000393389p.?c.330+5T>CUnknown
PTPRFENSG00000142949ENST00000422171p.F464Fc.1392C>TSubstitution - coding silent
CLEC16AENSG00000038532ENST00000409552p.T238Sc.713C>GSubstitution - Missense
FUBP1ENSG00000162613ENST00000436586p.V618Ic.1852G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.T3508Sc.10522A>TSubstitution - Missense
GRAP2ENSG00000100351ENST00000540310p.D35Dc.105C>TSubstitution - coding silent
C22orf39ENSG00000242259ENST00000333059p.?c.135+2T>GUnknown
BCRENSG00000186716ENST00000398512p.R199Hc.596G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.N1109Tc.3326A>CSubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.N871Tc.2612A>CSubstitution - Missense
PITPNC1ENSG00000154217ENST00000335257p.?c.293-1C>TUnknown
KCNIP3ENSG00000115041ENST00000360990p.E198Kc.592G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.P132Lc.395C>TSubstitution - Missense
ZNF408ENSG00000175213ENST00000311764p.G615Dc.1844G>ASubstitution - Missense
ZFXENSG00000005889ENST00000379188p.E154Gc.461A>GSubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.P453Lc.1358C>TSubstitution - Missense
OGNENSG00000106809ENST00000447356p.I137Ic.411A>CSubstitution - coding silent
PLIN2ENSG00000147872ENST00000380465p.Y82Cc.245A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
TUSC3ENSG00000104723ENST00000382020p.?c.426+9T>AUnknown
XPO7ENSG00000130227ENST00000433566p.Y892Hc.2674T>CSubstitution - Missense
DGKBENSG00000136267ENST00000258767p.S751Nc.2252G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.K232Rc.695A>GSubstitution - Missense
HS1BP3ENSG00000118960ENST00000304031p.V45Lc.133G>TSubstitution - Missense
ENST00000398860p.?c.9214-4G>CUnknown
SSH3ENSG00000172830ENST00000308127p.G465Sc.1393G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
EDNRAENSG00000151617ENST00000324300p.A368Pc.1102G>CSubstitution - Missense
NM_152574.1p.S514Cc.1541C>GSubstitution - Missense
TXNRD3ENSG00000197763ENST00000524230p.D519Vc.1556A>TSubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.T391Mc.1172C>TSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.T331Mc.992C>TSubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.R421Rc.1263G>ASubstitution - coding silent
ATG16L1ENSG00000085978ENST00000392017p.R508Rc.1524T>GSubstitution - coding silent
LPIN1ENSG00000134324ENST00000256720p.R383Gc.1147A>GSubstitution - Missense
COL4A3BPENSG00000113163ENST00000405807p.R600Rc.1800A>GSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.P186Lc.557C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.A591Ac.1773T>GSubstitution - coding silent
ITPR1ENSG00000150995ENST00000456211p.A576Ac.1728T>GSubstitution - coding silent
PKDREJENSG00000130943ENST00000253255p.P1167Pc.3501T>CSubstitution - coding silent
CARD8ENSG00000105483ENST00000391898p.L110Lc.330A>CSubstitution - coding silent
GLTSCR2ENSG00000105373ENST00000246802p.H229Hc.687C>TSubstitution - coding silent
NR2C2APENSG00000184162ENST00000331552p.D96Ec.288C>ASubstitution - Missense
ELLENSG00000105656ENST00000262809p.V358Vc.1074G>CSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.Q916Hc.2748G>TSubstitution - Missense
ZNF12ENSG00000164631ENST00000405858p.N137Sc.410A>GSubstitution - Missense
RNF216ENSG00000011275ENST00000389902p.S149Rc.445A>CSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000307984p.D818Ec.2454T>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000308008p.D813Ec.2439T>ASubstitution - Missense
DTX3LENSG00000163840ENST00000296161p.?c.400-5T>GUnknown
BOCENSG00000144857ENST00000355385p.R1021Hc.3062G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.Y3903*c.11709T>GSubstitution - Nonsense
ITGALENSG00000005844ENST00000356798p.A1144Ac.3432A>TSubstitution - coding silent
GDPD3ENSG00000102886ENST00000406256p.?c.768-7C>TUnknown
SMAP1ENSG00000112305ENST00000316999p.?c.708+8A>GUnknown
DSTENSG00000151914ENST00000370769p.?c.10308+7A>CUnknown
METTL24ENSG00000053328ENST00000338882p.Q242Pc.725A>CSubstitution - Missense
TNRC6BENSG00000100354ENST00000301923p.A933Vc.2798C>TSubstitution - Missense
ENST00000217537p.P685Rc.2054C>GSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.D507Nc.1519G>ASubstitution - Missense
NM_000273.1p.L352Lc.1056G>CSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.Y5979Dc.17935T>GSubstitution - Missense
FSTL4ENSG00000053108ENST00000265342p.R80Kc.239G>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000509018p.D813Ec.2439T>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.C192*c.576T>ASubstitution - Nonsense
USP17L2ENSG00000223443ENST00000333796p.R34Wc.100C>TSubstitution - Missense
COA3ENSG00000183978ENST00000328434p.G63Gc.189C>TSubstitution - coding silent
DCDC2CENSG00000214866ENST00000399143p.P52Pc.156A>GSubstitution - coding silent
CTNSENSG00000040531ENST00000381870p.?c.562-3C>TUnknown
CTNSENSG00000040531ENST00000046640p.?c.562-3C>TUnknown
RAB11FIP4ENSG00000131242ENST00000325874p.S189Tc.565T>ASubstitution - Missense
DYRK1BENSG00000105204ENST00000593685p.P561Pc.1683G>ASubstitution - coding silent
PCSK5ENSG00000099139ENST00000455778p.G100*c.298G>TSubstitution - Nonsense
TMC1ENSG00000165091ENST00000297784p.A690Ac.2070G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
SPINK5ENSG00000133710ENST00000359874p.?c.2739+9deltUnknown
SPINK5ENSG00000133710ENST00000256084p.?c.2739+9deltUnknown
MCF2L2ENSG00000053524ENST00000328913p.T347Rc.1040C>GSubstitution - Missense
ECT2ENSG00000114346ENST00000427830p.?c.2152+8G>AUnknown
SLC36A2ENSG00000186335ENST00000335244p.P424Pc.1272G>ASubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.A533Ac.1599T>CSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000530339p.A503Vc.1508C>TSubstitution - Missense
FAM13BENSG00000031003ENST00000033079p.V176Ac.527T>CSubstitution - Missense
NSDHLENSG00000147383ENST00000370274p.C340Cc.1020C>TSubstitution - coding silent
ELMO1ENSG00000155849ENST00000310758p.?c.832-3T>CUnknown
VPS41ENSG00000006715ENST00000310301p.?c.1128+3A>CUnknown
EPHA1ENSG00000146904ENST00000275815p.L960fs*>17c.2879delTDeletion - Frameshift
WNT2ENSG00000105989ENST00000265441p.A354Tc.1060G>ASubstitution - Missense
RINT1ENSG00000135249ENST00000257700p.R616Tc.1847G>CSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
HIST1H1BENSG00000184357ENST00000331442p.T99Sc.296C>GSubstitution - Missense
KCNIP3ENSG00000115041ENST00000468529p.E194Kc.580G>ASubstitution - Missense
SLC19A1ENSG00000173638ENST00000311124p.R460Qc.1379G>ASubstitution - Missense
TMPRSS2ENSG00000184012ENST00000398585p.L128Pc.383T>CSubstitution - Missense
TMPRSS2ENSG00000184012ENST00000454499p.L91Pc.272T>CSubstitution - Missense
IQCF1ENSG00000173389ENST00000310914p.E197Qc.589G>CSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.A294Pc.880G>CSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.Y1866Yc.5598C>TSubstitution - coding silent
RAPGEFL1ENSG00000108352ENST00000264644p.G106Sc.316G>ASubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.L663Lc.1989G>ASubstitution - coding silent
TRAM1ENSG00000067167ENST00000262213p.L102Lc.306G>ASubstitution - coding silent
TECPR1ENSG00000205356ENST00000379795p.?c.226-9G>AUnknown
AKAP9ENSG00000127914ENST00000356239p.K46Kc.138A>GSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.V1809Ic.5425G>ASubstitution - Missense
DGKBENSG00000136267ENST00000403951p.S751Nc.2252G>ASubstitution - Missense
HIST1H4BENSG00000124529ENST00000377364p.T83Tc.249T>ASubstitution - coding silent
HIST1H3DENSG00000197409ENST00000356476p.R54Hc.161G>ASubstitution - Missense
POTEHENSG00000198062ENST00000343518p.P9Pc.27G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000444484p.N172Nc.516C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.G155Gc.465G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000444484p.G155Gc.465G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.G155Ac.464G>CSubstitution - Missense
BCL2ENSG00000171791ENST00000444484p.G155Ac.464G>CSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.G145Gc.435G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.G145Gc.435G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000444484p.G145Gc.435G>ASubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.P91Sc.271C>TSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.P91Sc.271C>TSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.L86Vc.256C>GSubstitution - Missense
BCL2ENSG00000171791ENST00000444484p.L86Vc.256C>GSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.H55Pc.164A>CSubstitution - Missense
BCL2ENSG00000171791ENST00000444484p.H55Pc.164A>CSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.I48Ic.144C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000444484p.I48Ic.144C>TSubstitution - coding silent
BCL2ENSG00000171791ENST00000398117p.N11Hc.31A>CSubstitution - Missense
ENST00000541862p.E241Kc.721G>ASubstitution - Missense
TTC30BENSG00000196659ENST00000408939p.K123Kc.369G>ASubstitution - coding silent
PISDENSG00000241878ENST00000439502p.C181fs*7c.543_544delTGDeletion - Frameshift
ENST00000333679p.A86Sc.256G>TSubstitution - Missense
ASCC2ENSG00000100325ENST00000397771p.Q624*c.1870C>TSubstitution - Nonsense
PITPNBENSG00000180957ENST00000335272p.D237Nc.709G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.G1173Gc.3519A>CSubstitution - coding silent
ZNF160ENSG00000170949ENST00000429604p.M177Vc.529A>GSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.L429Fc.1285C>TSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.L429Fc.1285C>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.A894Vc.2681C>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000502694p.A286Vc.857C>TSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.R776Wc.2326C>TSubstitution - Missense
OR5H15ENSG00000233412ENST00000356526p.Q266*c.796C>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.T2827Ac.8479A>GSubstitution - Missense
ENST00000405167p.T2827Ac.8479A>GSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.S774Lc.2321C>TSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.S774Lc.2321C>TSubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.P483Pc.1449C>TSubstitution - coding silent
ABCA10ENSG00000154263ENST00000269081p.P344Pc.1032A>GSubstitution - coding silent
ZNF552ENSG00000178935ENST00000391701p.Y324Sc.971A>CSubstitution - Missense
SLC9A7ENSG00000065923ENST00000328306p.A595Tc.1783G>ASubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.E1288Kc.3862G>ASubstitution - Missense
ADAM2ENSG00000104755ENST00000265708p.A148Vc.443C>TSubstitution - Missense
ENSG00000178636ENST00000326780p.D108Gc.323A>GSubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.D353Hc.1057G>CSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.?c.3175-4G>AUnknown
WDR36ENSG00000134987ENST00000506538p.Y109Cc.326A>GSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.R870Qc.2609G>ASubstitution - Missense
NPR3ENSG00000113389ENST00000326958p.R76Sc.228G>CSubstitution - Missense
TMEM53ENSG00000126106ENST00000372242p.R200*c.598C>TSubstitution - Nonsense
SZT2ENSG00000198198ENST00000372442p.P1839Tc.5515C>ASubstitution - Missense
SART1ENSG00000175467ENST00000312397p.T768Ic.2303C>TSubstitution - Missense
LTBP3ENSG00000168056ENST00000322147p.P133Pc.399G>ASubstitution - coding silent
ENST00000398860p.P2556Sc.7666C>TSubstitution - Missense
A1CFENSG00000148584ENST00000373995p.S32Pc.94T>CSubstitution - Missense
SPATA6ENSG00000132122ENST00000371847p.G436Dc.1307G>ASubstitution - Missense
SLC30A4ENSG00000104154ENST00000261867p.W7Gc.19T>GSubstitution - Missense
B3GNT4ENSG00000176383ENST00000324189p.R94Cc.280C>TSubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.S486Sc.1458G>ASubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.G2797Dc.8390G>ASubstitution - Missense
ENST00000280576p.G1389Dc.4166G>ASubstitution - Missense
ANKRD42ENSG00000137494ENST00000393392p.?c.246+5T>CUnknown
XM_046751.7p.A167Tc.499G>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.K3010Nc.9030A>TSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.K170Nc.510A>TSubstitution - Missense
KCNN3ENSG00000143603ENST00000271915p.T232Sc.694A>TSubstitution - Missense
HSPA2ENSG00000126803ENST00000394709p.K500Kc.1500G>ASubstitution - coding silent
OTX2ENSG00000165588ENST00000339475p.L227Rc.680T>GSubstitution - Missense
ST6GALNAC5ENSG00000117069ENST00000477717p.P277Hc.830C>ASubstitution - Missense
CTHENSG00000116761ENST00000370938p.T308Ic.923C>TSubstitution - Missense
UBE2UENSG00000177414ENST00000371076p.?c.148+4T>AUnknown
NM_022459.3p.C769*c.2307T>ASubstitution - Nonsense
NM_022459.3p.E973Dc.2919G>CSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.A328fs*11c.975_976insAInsertion - Frameshift
ERBB4ENSG00000178568ENST00000342788p.T194Ac.580A>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.T194Ac.580A>GSubstitution - Missense
HS1BP3ENSG00000118960ENST00000304031p.E75Ec.225G>ASubstitution - coding silent
STAT1ENSG00000115415ENST00000361099p.P633Pc.1899C>TSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.T868Ic.2603C>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.T868Ic.2603C>TSubstitution - Missense
ENST00000246083p.D218Dc.654T>CSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.D1518Yc.4552G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.D1518Yc.4552G>TSubstitution - Missense
GLAENSG00000102393ENST00000218516p.?c.639+6A>CUnknown
MZF1ENSG00000099326ENST00000215057p.R123Cc.367C>TSubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.P453Lc.1358C>TSubstitution - Missense
ZBTB33ENSG00000177485ENST00000326624p.N23Ic.68A>TSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.G1037Gc.3111A>CSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.L263Lc.789C>TSubstitution - coding silent
CBFA2T2ENSG00000078699ENST00000375279p.I216Tc.647T>CSubstitution - Missense
IRF3ENSG00000126456ENST00000309877p.E310Kc.928G>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.S754Sc.2262C>TSubstitution - coding silent
NM_015024.2p.Y891Hc.2671T>CSubstitution - Missense
ENST00000356512p.Y229Nc.685T>ASubstitution - Missense
CSGALNACT1ENSG00000147408ENST00000332246p.E333Ec.999A>GSubstitution - coding silent
PTPRGENSG00000144724ENST00000474889p.H644Rc.1931A>GSubstitution - Missense
CNTNAP3BENSG00000154529ENST00000377564p.D549fs*25c.1642_1645delACAGDeletion - Frameshift
INSL6ENSG00000120210ENST00000381641p.?c.289+9C>TUnknown
SPAG8ENSG00000137098ENST00000396638p.P442Sc.1324C>TSubstitution - Missense
ENST00000357927_v68p.A80Vc.239C>TSubstitution - Missense
TAS2R16ENSG00000128519ENST00000249284p.L155Lc.465C>TSubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.P781Pc.2343G>ASubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.K199Rc.596A>GSubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.S242Pc.724T>CSubstitution - Missense
ICAM2ENSG00000108622ENST00000449662p.L234fs*>40c.696_703delGGTGTTGCDeletion - Frameshift
NUP54ENSG00000138750ENST00000264883p.Q97Ec.289C>GSubstitution - Missense
SULT1B1ENSG00000173597ENST00000310613p.F277Cc.830T>GSubstitution - Missense
GRPEL1ENSG00000109519ENST00000264954p.A99Ac.297A>TSubstitution - coding silent
SETD5ENSG00000168137ENST00000402198p.N982Nc.2946C>TSubstitution - coding silent
SETD5ENSG00000168137ENST00000302463p.N884Nc.2652C>TSubstitution - coding silent
ENST00000420871_v68p.R105Wc.313C>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.R105Wc.313C>TSubstitution - Missense
KCNIP3ENSG00000115041ENST00000295225p.E220Kc.658G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R4042Hc.12125G>ASubstitution - Missense
HVCN1ENSG00000122986ENST00000356742p.Y42Cc.125A>GSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.A131Vc.392C>TSubstitution - Missense
BCL2ENSG00000171791ENST00000398117p.N172Nc.516C>TSubstitution - coding silent
STARD3ENSG00000131748ENST00000336308p.A424Vc.1271C>TSubstitution - Missense
C6orf10ENSG00000204296ENST00000447241p.E99*c.295G>TSubstitution - Nonsense
PIGMENSG00000143315ENST00000368090p.R419Ic.1256G>TSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.G957Vc.2870G>TSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.Y602Nc.1804T>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.Q232*c.694C>TSubstitution - Nonsense
MDN1ENSG00000112159ENST00000369393p.L4459Pc.13376T>CSubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.Y646Nc.1936T>ASubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.S534Tc.1600T>ASubstitution - Missense
MMP2ENSG00000087245ENST00000219070p.S152Sc.456C>TSubstitution - coding silent
TCEAL6ENSG00000204071ENST00000372773p.E81Kc.241G>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.T537Ac.1609A>GSubstitution - Missense
HIST2H2BEENSG00000184678ENST00000369155p.I95Mc.285C>GSubstitution - Missense
ENST00000339267p.S32Sc.96G>ASubstitution - coding silent
ENST00000282251_v68p.E92*c.274G>TSubstitution - Nonsense
CBWD6ENSG00000204790ENST00000377457p.?c.431-1C>GUnknown
NTRK3ENSG00000140538ENST00000394480p.V21Fc.61G>TSubstitution - Missense
NTRK3ENSG00000140538ENST00000317501p.V21Fc.61G>TSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.A1292Ac.3876T>CSubstitution - coding silent
DUSP10ENSG00000143507ENST00000366899p.Y183Nc.547T>ASubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.S181fs*8c.540_541insCInsertion - Frameshift
ABCC4ENSG00000125257ENST00000376887p.P1032Rc.3095C>GSubstitution - Missense
RPH3AENSG00000089169ENST00000389385p.G225Rc.673G>ASubstitution - Missense
SLC39A5ENSG00000139540ENST00000266980p.R69Qc.206G>ASubstitution - Missense
OR6C4ENSG00000179626ENST00000394256p.M196Rc.587T>GSubstitution - Missense
OR52K1ENSG00000196778ENST00000307632p.V17Ic.49G>ASubstitution - Missense
ENST00000358313p.P573Pc.1719G>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.A1751Tc.5251G>ASubstitution - Missense
ENST00000412131p.R1715Hc.5144G>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.A1131Tc.3391G>ASubstitution - Missense
ADCY6ENSG00000174233ENST00000307885p.V1002Ac.3005T>CSubstitution - Missense
PXMP2ENSG00000176894ENST00000545677p.R96Rc.288G>ASubstitution - coding silent
SYT1ENSG00000067715ENST00000393240p.G385Gc.1155C>TSubstitution - coding silent
SRGAP1ENSG00000196935ENST00000355086p.H689Hc.2067C>TSubstitution - coding silent
KDM2AENSG00000173120ENST00000529006p.V110Vc.330C>TSubstitution - coding silent
GIFENSG00000134812ENST00000257248p.I223Ic.669C>ASubstitution - coding silent
ZFP91ENSG00000186660ENST00000316059p.R150Wc.448C>TSubstitution - Missense
ZFP91-CNTFENSG00000255073ENST00000389919p.R150Wc.448C>TSubstitution - Missense
SIVA1ENSG00000184990ENST00000329967p.A12Tc.34G>ASubstitution - Missense
C12orf40ENSG00000180116ENST00000398716p.F360Ic.1078T>ASubstitution - Missense
CHPT1ENSG00000111666ENST00000229266p.?c.564-5T>CUnknown
GPR83ENSG00000123901ENST00000243673p.T421Tc.1263G>ASubstitution - coding silent
SH3PXD2AENSG00000107957ENST00000355946p.T511Mc.1532C>TSubstitution - Missense
C10orf76ENSG00000120029ENST00000370033p.R387Sc.1161G>TSubstitution - Missense
CDK11AENSG00000008128ENST00000357760p.K36Kc.108A>GSubstitution - coding silent
ST14ENSG00000149418ENST00000278742p.E158Kc.472G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.C1893Gc.5677T>GSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.A80Gc.239C>GSubstitution - Missense
C1QTNF5ENSG00000223953ENST00000528368p.A219Vc.656C>TSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.S435Sc.1305G>ASubstitution - coding silent
PEX5ENSG00000139197ENST00000266564p.?c.147+3G>CUnknown
TDRD5ENSG00000162782ENST00000367614p.E324Kc.970G>ASubstitution - Missense
AXDND1ENSG00000162779ENST00000367618p.E258Ec.774A>GSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
COPB1ENSG00000129083ENST00000249923p.S624Lc.1871C>TSubstitution - Missense
ADAMTS15ENSG00000166106ENST00000299164p.A132Ac.396C>TSubstitution - coding silent
FESENSG00000182511ENST00000328850p.I567Lc.1699A>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.L2184Lc.6552G>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.M4007Lc.12019A>CSubstitution - 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
CREBBPENSG00000005339ENST00000262367p.Q232*c.694C>TSubstitution - Nonsense21390126