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OCI-M1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

860 mutations reported
307 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
RREB1ENSG00000124782ENST00000379938p.L424Lc.1272C>GSubstitution - coding silent
COLEC10ENSG00000184374ENST00000332843p.K143Kc.429G>ASubstitution - coding silent
CLASRPENSG00000104859ENST00000221455p.G14Sc.40G>ASubstitution - Missense
RBMXENSG00000147274ENST00000431446p.P141Tc.421C>ASubstitution - Missense
FCN1ENSG00000085265ENST00000371806p.A308Ec.923C>ASubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.?c.745+3G>CUnknown
TRUB2ENSG00000167112ENST00000372890p.N121Sc.362A>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.?c.3280+10C>TUnknown
PMLENSG00000140464ENST00000268059p.A713Ac.2139C>GSubstitution - coding silent
PARNENSG00000140694ENST00000437198p.E186Vc.557A>TSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.T1598Tc.4794C>GSubstitution - coding silent
CCNA1ENSG00000133101ENST00000255465p.V187Vc.561A>GSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000313695p.?c.499+8G>CUnknown
RUSC1ENSG00000160753ENST00000368354p.E34delEc.98_100delAGGDeletion - In frame
PTGS2ENSG00000073756ENST00000367468p.R455Cc.1363C>TSubstitution - Missense
KCNS3ENSG00000170745ENST00000304101p.S467Sc.1401C>TSubstitution - coding silent
TBX21ENSG00000073861ENST00000177694p.K136Kc.408A>GSubstitution - coding silent
ATP11AENSG00000068650ENST00000375630p.D913Nc.2737G>ASubstitution - Missense
MYLK2ENSG00000101306ENST00000375994p.R549Hc.1646G>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.R484Cc.1450C>TSubstitution - Missense
MAATS1ENSG00000183833ENST00000273390p.L296Lc.888A>GSubstitution - coding silent
PRRT2ENSG00000167371ENST00000567659p.P381Tc.1141C>ASubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.?c.2+1G>AUnknown
DSTENSG00000151914ENST00000370769p.S6728Yc.20183C>ASubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.V71Ic.211G>ASubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.T428Tc.1284C>ASubstitution - coding silent
TAPBPENSG00000231925ENST00000426633p.V150Dc.449T>ASubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.K1042Ic.3125A>TSubstitution - Missense
ASB2ENSG00000100628ENST00000315988p.T408Ic.1223C>TSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.E1233Qc.3697G>CSubstitution - Missense
SPATA20ENSG00000006282ENST00000006658p.?c.1173+3G>TUnknown
CYP3A5ENSG00000106258ENST00000222982p.?c.670+10C>AUnknown
MLLT4ENSG00000130396ENST00000366806p.?c.2996-3G>AUnknown
UMODL1ENSG00000177398ENST00000408989p.M73Ic.219G>ASubstitution - Missense
OGFOD3ENSG00000181396ENST00000329197p.D139Dc.417C>TSubstitution - coding silent
UBAP2ENSG00000137073ENST00000379238p.G872Ec.2615G>ASubstitution - Missense
ENST00000399933_v61p.S1151*c.3452C>ASubstitution - Nonsense
STT3BENSG00000163527ENST00000295770p.R190Gc.568A>GSubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.?c.4091+10A>TUnknown
ENST00000405167p.P1138Tc.3412C>ASubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.P267Sc.799C>TSubstitution - Missense
KCNK17ENSG00000124780ENST00000373231p.T269Tc.807G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.L2804Rc.8411T>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.N1295Nc.3885C>TSubstitution - coding silent
ULBP3ENSG00000131019ENST00000367339p.R45Ic.134G>TSubstitution - Missense
ENSG00000198843ENST00000471696p.Q113Qc.339A>GSubstitution - coding silent
INCA1ENSG00000196388ENST00000396829p.?c.159-8C>TUnknown
NM_133373.2p.S594Sc.1782A>GSubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.D614Gc.1841A>GSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.I878Ic.2634C>TSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000538872p.P135Sc.403C>TSubstitution - Missense
LRIG3ENSG00000139263ENST00000320743p.L409Lc.1225T>CSubstitution - coding silent
PANX3ENSG00000154143ENST00000284288p.L383Lc.1149C>GSubstitution - coding silent
PAN2ENSG00000135473ENST00000440411p.V1032Vc.3096G>ASubstitution - coding silent
GPN3ENSG00000111231ENST00000228827p.H247Yc.739C>TSubstitution - Missense
ENST00000414315p.L13Rc.38T>GSubstitution - Missense
SPENENSG00000065526ENST00000375759p.G3394Gc.10182G>CSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000437966p.P258Pc.774C>TSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.I1929Vc.5785A>GSubstitution - Missense
SDC3ENSG00000162512ENST00000339394p.I301Ic.903C>TSubstitution - coding silent
VEZTENSG00000028203ENST00000261219p.L230Lc.688C>TSubstitution - coding silent
SFSWAPENSG00000061936ENST00000261674p.D606Nc.1816G>ASubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.C902*c.2706C>ASubstitution - Nonsense
POLR2AENSG00000181222ENST00000322644p.G650Dc.1949G>ASubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.S839Fc.2516C>TSubstitution - Missense
ENST00000405167p.P2802Hc.8405C>ASubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.Q730*c.2188C>TSubstitution - Nonsense
PAF1ENSG00000006712ENST00000221265p.D437Dc.1311C>TSubstitution - coding silent
TERF2ENSG00000132604ENST00000254942p.P269Sc.805C>TSubstitution - Missense
DIP2CENSG00000151240ENST00000381496p.T74Tc.222G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000447510p.I165Ic.495T>CSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370068p.T200Mc.599C>TSubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.H341Rc.1022A>GSubstitution - Missense
RNF38ENSG00000137075ENST00000377877p.T329Ac.985A>GSubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.H52Yc.154C>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372142p.H93Qc.279T>ASubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.S858Yc.2573C>ASubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.M43Vc.127A>GSubstitution - Missense
FGFR2ENSG00000066468ENST00000457416p.I423Mc.1269C>GSubstitution - Missense
PAOXENSG00000148832ENST00000278060p.V183Ic.547G>ASubstitution - Missense
NM_002837.2p.H1517Hc.4551C>TSubstitution - coding silent
ACBD5ENSG00000107897ENST00000375905p.K118Rc.353A>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1276Mc.3827C>TSubstitution - Missense
C7ENSG00000112936ENST00000313164p.?c.2166-8C>AUnknown
CACNA1CENSG00000151067ENST00000399634p.D1713Nc.5137G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.H1517Hc.4551C>TSubstitution - coding silent
DEFB129ENSG00000125903ENST00000246105p.L102Ic.304C>ASubstitution - Missense
ZNF2ENSG00000163067ENST00000340539p.D25Hc.73G>CSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.?c.2971-6C>TUnknown
KALRNENSG00000160145ENST00000240874p.T140Ac.418A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K1749Rc.5246A>GSubstitution - Missense
WASH4PENSG00000234769ENST00000326592p.V159Vc.477G>TSubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.S1231Ac.3691T>GSubstitution - Missense
ARHGEF19ENSG00000142632ENST00000270747p.R489fs*42c.1464delCDeletion - Frameshift
MAP3K6ENSG00000142733ENST00000374040p.A151Ac.453C>TSubstitution - coding silent
POMGNT1ENSG00000085998ENST00000371992p.G94Gc.282T>GSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.D1713Nc.5137G>ASubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.S326*c.977C>ASubstitution - Nonsense
ENST00000399933_v61p.Q1086*c.3256C>TSubstitution - Nonsense
NM_080674.1p.E330Qc.988G>CSubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.T393Ic.1178C>TSubstitution - Missense
MBD2ENSG00000134046ENST00000256429p.L170Rc.509T>GSubstitution - Missense
SKOR2ENSG00000215474ENST00000425639p.N78Nc.234C>TSubstitution - coding silent
ZNF654ENSG00000175105ENST00000309495p.E134Kc.400G>ASubstitution - Missense
SP140LENSG00000185404ENST00000415673p.T576Ic.1727C>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000434900p.L151Lc.453G>ASubstitution - coding silent
CRIPTENSG00000119878ENST00000238892p.T99Tc.297A>TSubstitution - coding silent
PLCD3ENSG00000161714ENST00000322765p.S593Sc.1779A>GSubstitution - coding silent
PPM1FENSG00000100034ENST00000263212p.A78Vc.233C>TSubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.S517Fc.1550C>TSubstitution - Missense
ENST00000264546_v70p.R513Cc.1537C>TSubstitution - Missense
C6orf25ENSG00000204420ENST00000375809p.P62Lc.185C>TSubstitution - Missense
NCAPGENSG00000109805ENST00000251496p.H862Rc.2585A>GSubstitution - Missense
NM_021874.2p.?c.1665+6G>AUnknown
TNFRSF13BENSG00000240505ENST00000437538p.R152Hc.455G>ASubstitution - Missense
PTOV1ENSG00000104960ENST00000221557p.C166Fc.497G>TSubstitution - Missense
ENST00000344371p.A66Vc.197C>TSubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.D929Ec.2787T>ASubstitution - Missense
ATF7ENSG00000170653ENST00000548446p.P487Sc.1459C>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S1407Sc.4221A>GSubstitution - coding silent
SDC3ENSG00000162512ENST00000336798p.I243Ic.729C>TSubstitution - coding silent
SORCS3ENSG00000156395ENST00000369701p.G500Vc.1499G>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000357555p.I333Mc.999C>GSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.I96Tc.287T>CSubstitution - Missense
EEA1ENSG00000102189ENST00000322349p.I941Tc.2822T>CSubstitution - Missense
NM_182507.1p.R331Lc.992G>TSubstitution - Missense
OSBPL5ENSG00000021762ENST00000263650p.G81Rc.241G>ASubstitution - Missense
TNFRSF13BENSG00000240505ENST00000261652p.R198Hc.593G>ASubstitution - Missense
SEPT11ENSG00000138758ENST00000264893p.?c.142+9T>CUnknown
DCAF4L2ENSG00000176566ENST00000319675p.P319Tc.955C>ASubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.H257Qc.771C>GSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.S871Rc.2613T>ASubstitution - Missense
CLIC6ENSG00000159212ENST00000349499p.K633Ec.1897A>GSubstitution - Missense
CCDC170ENSG00000120262ENST00000239374p.R39Qc.116G>ASubstitution - Missense
FDXRENSG00000161513ENST00000581530p.K273Nc.819G>CSubstitution - Missense
SMIM19ENSG00000176209ENST00000417410p.F37Fc.111C>TSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.L133Lc.399G>CSubstitution - coding silent
RUVBL1ENSG00000175792ENST00000322623p.?c.753+6G>TUnknown
USP34ENSG00000115464ENST00000398571p.W2805*c.8415G>ASubstitution - Nonsense
PCDHB6ENSG00000113211ENST00000231136p.L53Mc.157C>ASubstitution - Missense
C19orf47ENSG00000160392ENST00000582783p.A292Ac.876C>TSubstitution - coding silent
PDZRN3ENSG00000121440ENST00000535920p.A350Ac.1050C>GSubstitution - coding silent
MYL1ENSG00000168530ENST00000341685p.R93Hc.278G>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000454250p.P377Pc.1131C>TSubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.P1707Pc.5121G>ASubstitution - coding silent
ENST00000270720p.S166Sc.498C>TSubstitution - coding silent
ZNF556ENSG00000172000ENST00000307635p.R247Hc.740G>ASubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.?c.1602+6G>AUnknown
AHNAKENSG00000124942ENST00000378024p.G3076Vc.9227G>TSubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.P741Pc.2223A>GSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.Q1391Qc.4173A>GSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.A502Ac.1506T>GSubstitution - coding silent
AMBRA1ENSG00000110497ENST00000314845p.N242Sc.725A>GSubstitution - Missense
SH2D2AENSG00000027869ENST00000368199p.G338Sc.1012G>ASubstitution - Missense
C1RLENSG00000139178ENST00000266542p.Q192Qc.576G>ASubstitution - coding silent
PROZENSG00000126231ENST00000375547p.?c.235-7T>CUnknown
VEZTENSG00000028203ENST00000436874p.L278Lc.832C>TSubstitution - coding silent
AAMDCENSG00000087884ENST00000526415p.G48Rc.142G>CSubstitution - Missense
ZBTB7BENSG00000160685ENST00000292176p.G370Gc.1110C>TSubstitution - coding silent
SARSENSG00000031698ENST00000234677p.G182Sc.544G>ASubstitution - Missense
DIRAS3ENSG00000162595ENST00000370981p.L223Rc.668T>GSubstitution - Missense
USP39ENSG00000168883ENST00000409470p.N112Sc.335A>GSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
DPYSL3ENSG00000113657ENST00000398514p.S319Ac.955T>GSubstitution - Missense
FBXO38ENSG00000145868ENST00000340253p.I1001Vc.3001A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.V1781fs*43c.5341delGDeletion - Frameshift
DNAJC6ENSG00000116675ENST00000371069p.?c.2634+10G>AUnknown
SARSENSG00000031698ENST00000369923p.G182Sc.544G>ASubstitution - Missense
SUPT20HENSG00000102710ENST00000350612p.D251Dc.753T>CSubstitution - coding silent
KLRF1ENSG00000150045ENST00000279544p.D3Nc.7G>ASubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.L1263Fc.3787C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1276Mc.3827C>TSubstitution - Missense
LSM7ENSG00000130332ENST00000252622p.K4Nc.12G>CSubstitution - Missense
ENST00000545858p.?c.394-2A>CUnknown
FAM120AENSG00000048828ENST00000277165p.H341Rc.1022A>GSubstitution - Missense
CERKLENSG00000188452ENST00000410087p.T34Tc.102G>TSubstitution - coding silent
NCKAP1ENSG00000061676ENST00000360982p.T768Kc.2303C>ASubstitution - Missense
OTOP1ENSG00000163982ENST00000296358p.H600Hc.1800C>TSubstitution - coding silent
TM2D2ENSG00000169490ENST00000456397p.G22Ac.65G>CSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.K332Rc.995A>GSubstitution - Missense
MST1ENSG00000173531ENST00000449682p.Q290Ec.868C>GSubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.I443Vc.1327A>GSubstitution - Missense
PLGENSG00000122194ENST00000308192p.R786Cc.2356C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.S4687Tc.14059T>ASubstitution - Missense
HAUS7ENSG00000213397ENST00000370212p.S413Sc.1239C>TSubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000274609p.H356Hc.1068C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.T4334Mc.13001C>TSubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.R684Hc.2051G>ASubstitution - Missense
MEIOBENSG00000162039ENST00000412554p.V437Ic.1309G>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000419506p.L58Lc.174G>ASubstitution - coding silent
GORABENSG00000120370ENST00000367763p.L286Hc.857T>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.M596Vc.1786A>GSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
HIP1RENSG00000130787ENST00000253083p.S192Tc.574T>ASubstitution - Missense
VPS4BENSG00000119541ENST00000238497p.K85Mc.254A>TSubstitution - Missense
SFTPBENSG00000168878ENST00000393822p.S278Sc.834C>ASubstitution - coding silent
TTC39CENSG00000168234ENST00000304621p.?c.278-10C>TUnknown
RAB11FIP1ENSG00000156675ENST00000330843p.S195Rc.585C>ASubstitution - Missense
CACNG7ENSG00000105605ENST00000391767p.P104Pc.312C>TSubstitution - coding silent
SATB2ENSG00000119042ENST00000417098p.L297Rc.890T>GSubstitution - Missense
GYPBENSG00000250361ENST00000283126p.T23Nc.68C>ASubstitution - Missense
SAP130ENSG00000136715ENST00000357702p.P166Hc.497C>ASubstitution - Missense
RMND1ENSG00000155906ENST00000367303p.E286Dc.858A>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.S3333Nc.9998G>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.I726Tc.2177T>CSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.G230Rc.688G>ASubstitution - Missense
CASTENSG00000153113ENST00000309190p.S30fs*25c.81_82insAInsertion - Frameshift
CCDC13ENSG00000244607ENST00000310232p.A677Sc.2029G>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.S11Yc.32C>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.?c.3332-8T>CUnknown
VPS13AENSG00000197969ENST00000376634p.S665Tc.1994G>CSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.P306Tc.916C>ASubstitution - Missense
CACNB4ENSG00000182389ENST00000539935p.S183Rc.547A>CSubstitution - Missense
RBMXENSG00000147274ENST00000320676p.?c.389-2A>GUnknown
UTRNENSG00000152818ENST00000367526p.A948Ac.2844G>TSubstitution - coding silent
CASTENSG00000153113ENST00000395813p.S135fs*25c.396_397insAInsertion - Frameshift
IL12RB1ENSG00000096996ENST00000593993p.R484Cc.1450C>TSubstitution - Missense
SLC16A1ENSG00000155380ENST00000433570p.V22Mc.64G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.L145Rc.434T>GSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.F1273Fc.3819C>TSubstitution - coding silent
OPRM1ENSG00000112038ENST00000414028p.L58Lc.174G>ASubstitution - coding silent
ANO4ENSG00000151572ENST00000392979p.W426Lc.1277G>TSubstitution - Missense
XM_048898.8p.F1269Fc.3807C>TSubstitution - coding silent
RASGRF1ENSG00000058335ENST00000419573p.D202Nc.604G>ASubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.N1432Sc.4295A>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.?c.3280+10C>TUnknown
SLC6A5ENSG00000165970ENST00000525748p.F475Lc.1425C>ASubstitution - Missense
VPS11ENSG00000160695ENST00000300793p.L256Fc.768G>TSubstitution - Missense
MRGPRX4ENSG00000179817ENST00000314254p.A69Ac.207C>TSubstitution - coding silent
INADLENSG00000132849ENST00000371158p.?c.3492+3A>GUnknown
TGFBR3ENSG00000069702ENST00000212355p.A791Ac.2373G>ASubstitution - coding silent
ATP12AENSG00000075673ENST00000381946p.T101Mc.302C>TSubstitution - Missense
CADPSENSG00000163618ENST00000283269p.A1290Tc.3868G>ASubstitution - Missense
ENST00000399933_v61p.Q1128*c.3382C>TSubstitution - Nonsense
PBRM1ENSG00000163939ENST00000296302p.S1367Fc.4100C>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.?c.1922-9T>AUnknown
KRTAP1-3ENSG00000221880ENST00000344363p.F44Cc.131T>GSubstitution - Missense
NM_015009.1p.A628Ac.1884C>GSubstitution - coding silent
FNDC1ENSG00000164694ENST00000297267p.V1664Mc.4990G>ASubstitution - Missense
HPS4ENSG00000100099ENST00000336873p.E324_N325insACPDGRKEc.948_949ins24Insertion - In frame
DYNC1I2ENSG00000077380ENST00000397119p.E59Dc.177A>TSubstitution - Missense
DGCR2ENSG00000070413ENST00000263196p.S223Lc.668C>TSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.S2976Gc.8926A>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000471181p.D1799Gc.5396A>GSubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.P152Qc.455C>ASubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.Q869Hc.2607G>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.T3059Tc.9177T>ASubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.G174Gc.522G>ASubstitution - coding silent
AEBP2ENSG00000139154ENST00000398864p.?c.880-5A>CUnknown
HPENSG00000257017ENST00000228226p.Y12fs*96c.18_19insGTInsertion - Frameshift
HIST3H3ENSG00000168148ENST00000366696p.R129Cc.385C>TSubstitution - Missense
NTNG1ENSG00000162631ENST00000370074p.T200Mc.599C>TSubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.P348Pc.1044C>TSubstitution - coding silent
FMO2ENSG00000094963ENST00000209929p.R165Gc.493A>GSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.?c.703+2T>AUnknown
KLC1ENSG00000126214ENST00000452929p.?c.572-8C>TUnknown
CACNA1CENSG00000151067ENST00000399634p.D1946Hc.5836G>CSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.Q2810Hc.8430G>CSubstitution - Missense
ATP6V0A2ENSG00000185344ENST00000330342p.P367Lc.1100C>TSubstitution - Missense
PGBD2ENSG00000185220ENST00000329291p.Q569*c.1705C>TSubstitution - Nonsense
LEPRENSG00000116678ENST00000344610p.C99Yc.296G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.F1056Fc.3168C>TSubstitution - coding silent
SLC16A3ENSG00000141526ENST00000392341p.N305Nc.915C>TSubstitution - coding silent
OGFOD3ENSG00000181396ENST00000313056p.D139Dc.417C>TSubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.N322Nc.966C>TSubstitution - coding silent
TMEM35ENSG00000126950ENST00000372930p.L53Lc.159G>ASubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.R496Cc.1486C>TSubstitution - Missense
GPR64ENSG00000173698ENST00000357991p.P345Lc.1034C>TSubstitution - Missense
TIMMDC1ENSG00000113845ENST00000494664p.?c.194+1G>CUnknown
NPHP3ENSG00000113971ENST00000337331p.H1173Hc.3519C>TSubstitution - coding silent
MGLLENSG00000074416ENST00000398104p.R240Hc.719G>ASubstitution - Missense
ENST00000317726p.S66Pc.196T>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MAP3K10ENSG00000130758ENST00000253055p.R512Rc.1534C>ASubstitution - coding silent
HNRNPLENSG00000104824ENST00000221419p.T98Tc.294C>TSubstitution - coding silent
LEPRENSG00000116678ENST00000371059p.C99Yc.296G>ASubstitution - Missense
SUPT20HENSG00000102710ENST00000360252p.D252Dc.756T>CSubstitution - coding silent
FAM196BENSG00000204767ENST00000377365p.P77Pc.231C>ASubstitution - coding silent
KRT80ENSG00000167767ENST00000394815p.R296Lc.887G>TSubstitution - Missense
MAP3K12ENSG00000139625ENST00000267079p.S741Sc.2223C>TSubstitution - coding silent
TRAF5ENSG00000082512ENST00000336184p.E262fs*10c.785delADeletion - Frameshift
HSPG2ENSG00000142798ENST00000374695p.V2749Mc.8245G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.T181Tc.543G>ASubstitution - coding silent
PARNENSG00000140694ENST00000437198p.E186Vc.557A>TSubstitution - Missense
CYP3A5ENSG00000106258ENST00000343703p.L26Lc.78G>TSubstitution - coding silent
FGFR2ENSG00000066468ENST00000351936p.I422Mc.1266C>GSubstitution - Missense
IRF9ENSG00000213928ENST00000396864p.V138Lc.412G>TSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.T477Tc.1431C>TSubstitution - coding silent
BTG4ENSG00000137707ENST00000356018p.?c.662+5C>TUnknown
MSLNENSG00000102854ENST00000382862p.P417Rc.1250C>GSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R34Wc.100C>TSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.V857Vc.2571C>TSubstitution - coding silent
IRAK2ENSG00000134070ENST00000256458p.P267Lc.800C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000453996p.H257Qc.771C>GSubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.P364Lc.1091C>TSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.N19Nc.57C>TSubstitution - coding silent
IFNW1ENSG00000177047ENST00000380229p.A140Vc.419C>TSubstitution - Missense
ENST00000357909p.R78Wc.232C>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000310351p.T759Ac.2275A>GSubstitution - Missense
AGFG1ENSG00000173744ENST00000409979p.A484Vc.1451C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K1749Rc.5246A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P1027Lc.3080C>TSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.T1193Mc.3578C>TSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.3143-7T>GUnknown
IPO11ENSG00000086200ENST00000325324p.D190Dc.570C>TSubstitution - coding silent
PDGFRAENSG00000134853ENST00000257290p.S285Tc.854G>CSubstitution - Missense
ENST00000378024_v70p.G3076Vc.9227G>TSubstitution - Missense
ENST00000393822_v70p.S290Sc.870C>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000543373p.I156Ic.468T>CSubstitution - coding silent
CASTENSG00000153113ENST00000338252p.S52fs*25c.147_148insAInsertion - Frameshift
ABHD14BENSG00000114779ENST00000315877p.A184Ac.552G>TSubstitution - coding silent
ENSG00000150076ENST00000302316p.H125Rc.374A>GSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.R309Lc.926G>TSubstitution - Missense
TGM5ENSG00000104055ENST00000220420p.V76Mc.226G>ASubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.P142Pc.426G>ASubstitution - coding silent
ACIN1ENSG00000100813ENST00000338631p.K94Rc.281A>GSubstitution - Missense
ENST00000327087_v68p.A501Ac.1503T>GSubstitution - coding silent
AMBRA1ENSG00000110497ENST00000458649p.N242Sc.725A>GSubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.S774Sc.2322C>TSubstitution - coding silent
NEUROD4ENSG00000123307ENST00000242994p.T78Ic.233C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.V514Vc.1542A>CSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.C1007Yc.3020G>ASubstitution - Missense
ASB2ENSG00000100628ENST00000315988p.T192Ic.575C>TSubstitution - Missense
AJAP1ENSG00000196581ENST00000378190p.N323Hc.967A>CSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.Y670*c.2010C>GSubstitution - Nonsense
KCNA4ENSG00000182255ENST00000328224p.T601Sc.1802C>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.S871*c.2612C>GSubstitution - Nonsense
PTOV1ENSG00000104960ENST00000391842p.C198Fc.593G>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.S362Sc.1086C>TSubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.N361Hc.1081A>CSubstitution - Missense
APOBENSG00000084674ENST00000233242p.G493Vc.1478G>TSubstitution - Missense
N4BP1ENSG00000102921ENST00000262384p.F438Cc.1313T>GSubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.V1170Lc.3508G>CSubstitution - Missense
FOXL1ENSG00000176678ENST00000320241p.A33Ac.99C>ASubstitution - coding silent
BTBD9ENSG00000183826ENST00000403056p.I272Ic.816A>TSubstitution - coding silent
SPNS1ENSG00000169682ENST00000311008p.N91Nc.273C>TSubstitution - coding silent
MYO1DENSG00000176658ENST00000318217p.L139Lc.417T>CSubstitution - coding silent
SECISBP2ENSG00000187742ENST00000375807p.E522*c.1564G>TSubstitution - Nonsense
BRCA1ENSG00000012048ENST00000357654p.D1778Gc.5333A>GSubstitution - Missense
NEDD9ENSG00000111859ENST00000504387p.I726Tc.2177T>CSubstitution - Missense
NM_139056.1p.Q869Hc.2607G>TSubstitution - Missense
TAPBPENSG00000231925ENST00000434618p.V150Dc.449T>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.G174Gc.522G>ASubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.V1301Lc.3901G>CSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.?c.583+8G>CUnknown
GPRIN2ENSG00000204175ENST00000374317p.E267Ec.801G>ASubstitution - coding silent
OR10V1ENSG00000172289ENST00000307552p.R194Rc.582C>TSubstitution - coding silent
MAGI2ENSG00000187391ENST00000535697p.D501Gc.1502A>GSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.R522Cc.1564C>TSubstitution - Missense
MYL1ENSG00000168530ENST00000352451p.R137Hc.410G>ASubstitution - Missense
GRIK1ENSG00000171189ENST00000399907p.A749Vc.2246C>TSubstitution - Missense
GRIK1ENSG00000171189ENST00000389125p.A734Vc.2201C>TSubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.G1258Gc.3774C>GSubstitution - coding silent
ENST00000317571_v68p.?c.461-10C>TUnknown
REPS1ENSG00000135597ENST00000258062p.S73Sc.219G>ASubstitution - coding silent
PCDH18ENSG00000189184ENST00000344876p.D191Ec.573T>GSubstitution - Missense
HLTFENSG00000071794ENST00000310053p.V134Gc.401T>GSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.S963Sc.2889C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2802Hc.8405C>ASubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.K692Ec.2074A>GSubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.F362Cc.1085T>GSubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.D228Ec.684C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P1027Lc.3080C>TSubstitution - Missense
C9orf172ENSG00000232434ENST00000436881p.Y712Hc.2134T>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.D244Nc.730G>ASubstitution - Missense
ARHGAP10ENSG00000071205ENST00000336498p.L416Lc.1248G>ASubstitution - coding silent
SEMG2ENSG00000124157ENST00000372769p.I14Vc.40A>GSubstitution - Missense
KCNK15ENSG00000124249ENST00000372861p.N133Sc.398A>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.V1301Lc.3901G>CSubstitution - Missense
DYNC1I2ENSG00000077380ENST00000358002p.E59Dc.177A>TSubstitution - Missense
LRIG3ENSG00000139263ENST00000379141p.S1021Lc.3062C>TSubstitution - Missense
OR5I1ENSG00000167825ENST00000301532p.L168Lc.504G>ASubstitution - coding silent
RALGPS1ENSG00000136828ENST00000259351p.S453Cc.1358C>GSubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.P152Qc.455C>ASubstitution - Missense
TMEM14AENSG00000096092ENST00000211314p.?c.260+4A>CUnknown
RFX1ENSG00000132005ENST00000254325p.V600Ic.1798G>ASubstitution - Missense
GOPCENSG00000047932ENST00000535237p.E161Gc.482A>GSubstitution - Missense
CABP4ENSG00000175544ENST00000325656p.S174Lc.521C>TSubstitution - Missense
TAPBPLENSG00000139192ENST00000266556p.I124Tc.371T>CSubstitution - Missense
FOXJ2ENSG00000065970ENST00000162391p.Q162Qc.486A>GSubstitution - coding silent
SLC17A6ENSG00000091664ENST00000263160p.?c.573+9C>AUnknown
SOS2ENSG00000100485ENST00000216373p.S754Nc.2261G>ASubstitution - Missense
ENST00000313929p.T60Ac.178A>GSubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.A83Tc.247G>ASubstitution - Missense
ITGA3ENSG00000005884ENST00000320031p.?c.1157-7T>CUnknown
SLX4IPENSG00000149346ENST00000334534p.N244Tc.731A>CSubstitution - Missense
RBMXL1ENSG00000213516ENST00000321792p.S257*c.770C>ASubstitution - Nonsense
CYP3A5ENSG00000106258ENST00000222982p.L36Lc.108G>TSubstitution - coding silent
ABHD14BENSG00000114779ENST00000361143p.A186Ac.558G>TSubstitution - coding silent
PBRM1ENSG00000163939ENST00000356770p.S1335Fc.4004C>TSubstitution - Missense
PPM1MENSG00000164088ENST00000409502p.Y57Sc.170A>CSubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.M1Ic.3G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.H1796Hc.5388C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P973Lc.2918C>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.R180Qc.539G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.S78Tc.232T>ASubstitution - Missense
MRPL22ENSG00000082515ENST00000523037p.G21Gc.63G>TSubstitution - coding silent
IGFLR1ENSG00000126246ENST00000246532p.P220Lc.659C>TSubstitution - Missense
ACBD5ENSG00000107897ENST00000375888p.K151Rc.452A>GSubstitution - Missense
TGENSG00000042832ENST00000220616p.A28Vc.83C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.V1781fs*43c.5341delGDeletion - Frameshift
PSG2ENSG00000242221ENST00000406487p.?c.964+3A>GUnknown
ENST00000258062_v70p.S125Sc.375G>ASubstitution - coding silent
ENST00000339254p.S183Rc.547A>CSubstitution - Missense
CLIC6ENSG00000159212ENST00000360731p.K651Ec.1951A>GSubstitution - Missense
COL3A1ENSG00000168542ENST00000317840p.E930Qc.2788G>CSubstitution - Missense
COL16A1ENSG00000084636ENST00000271069p.L59Fc.175C>TSubstitution - Missense
KIF2CENSG00000142945ENST00000455186p.R231Qc.692G>ASubstitution - Missense
SCAMP2ENSG00000140497ENST00000268099p.A46Vc.137C>TSubstitution - Missense
KIF17ENSG00000117245ENST00000247986p.P559Lc.1676C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.L145Rc.434T>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.N1192Nc.3576C>TSubstitution - coding silent
FOXJ2ENSG00000065970ENST00000428177p.Q162Qc.486A>GSubstitution - coding silent
KLC1ENSG00000126214ENST00000334553p.?c.572-8C>TUnknown
AGBL4ENSG00000186094ENST00000371836p.S149Fc.446C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.L498Lc.1494C>TSubstitution - coding silent
APOBRENSG00000184730ENST00000564831p.S962*c.2885C>GSubstitution - Nonsense
MYO9AENSG00000066933ENST00000424560p.D929Ec.2787T>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.673-2A>CUnknown
FDXRENSG00000161513ENST00000455107p.K223Nc.669G>CSubstitution - Missense
USP6ENSG00000129204ENST00000304328p.S128Sc.384C>GSubstitution - coding silent
KIF18BENSG00000186185ENST00000590129p.R620Qc.1859G>ASubstitution - Missense
ETV2ENSG00000105672ENST00000402764p.P160Pc.480C>GSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.L145Rc.434T>GSubstitution - Missense
NLRP7ENSG00000167634ENST00000446217p.S899Rc.2697T>ASubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.?c.562+6T>CUnknown
ITGAVENSG00000138448ENST00000433736p.N216Sc.647A>GSubstitution - Missense
PPM1MENSG00000164088ENST00000457351p.Y269Sc.806A>CSubstitution - Missense
ETV5ENSG00000244405ENST00000537818p.P194Qc.581C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.D244Nc.730G>ASubstitution - Missense
ATG4BENSG00000168397ENST00000405546p.R201Wc.601C>TSubstitution - Missense
ATG4BENSG00000168397ENST00000474739p.R187Wc.559C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.F1101Lc.3303C>ASubstitution - Missense
ARHGEF19ENSG00000142632ENST00000449495p.R178fs*42c.530delCDeletion - Frameshift
RGS12ENSG00000159788ENST00000338806p.G610Gc.1830C>GSubstitution - coding silent
PDZRN3ENSG00000121440ENST00000263666p.A628Ac.1884C>GSubstitution - coding silent
SLIT3ENSG00000184347ENST00000404867p.N1192Nc.3576C>TSubstitution - coding silent
CTU2ENSG00000174177ENST00000567949p.H328Qc.984C>GSubstitution - Missense
OPRM1ENSG00000112038ENST00000435918p.L58Lc.174G>ASubstitution - coding silent
IPO11ENSG00000086200ENST00000409296p.D230Dc.690C>TSubstitution - coding silent
DOPEY1ENSG00000083097ENST00000237163p.T1174Mc.3521C>TSubstitution - Missense
CRISP3ENSG00000096006ENST00000433368p.A75Ec.224C>ASubstitution - Missense
CYP3A5ENSG00000106258ENST00000343703p.?c.640+10C>AUnknown
PCLOENSG00000186472ENST00000423517p.P1027Lc.3080C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.K1749Rc.5246A>GSubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.V658Fc.1972G>TSubstitution - Missense
CNKSR2ENSG00000149970ENST00000279451p.?c.1904+1G>AUnknown
SH2D2AENSG00000027869ENST00000392306p.G348Sc.1042G>ASubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.H314Qc.942T>ASubstitution - Missense
GLRXENSG00000173221ENST00000237858p.T97Mc.290C>TSubstitution - Missense
PTP4A2ENSG00000184007ENST00000344035p.K36Tc.107A>CSubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.?c.1285+4A>CUnknown
INO80DENSG00000114933ENST00000403263p.T544Tc.1632C>ASubstitution - coding silent
ZBTB5ENSG00000168795ENST00000307750p.M187Vc.559A>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.S877Lc.2630C>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.N361Sc.1082A>GSubstitution - Missense
N4BP1ENSG00000102921ENST00000262384p.F391Cc.1172T>GSubstitution - Missense
ZNF654ENSG00000175105ENST00000309495p.E173Kc.517G>ASubstitution - Missense
ZNF579ENSG00000218891ENST00000325421p.G366_Q367insGc.1095_1096insGGCInsertion - In frame
ENST00000319509_v65p.S279Cc.836C>GSubstitution - Missense
NMUR2ENSG00000132911ENST00000255262p.L93Lc.279G>ASubstitution - coding silent
GOLM1ENSG00000135052ENST00000388712p.Q145Qc.435G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.E1879Vc.5636A>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.S3373Nc.10118G>ASubstitution - Missense
CACNB4ENSG00000182389ENST00000534999p.S149Rc.445A>CSubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.N304Sc.911A>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.T3059Tc.9177T>ASubstitution - coding silent
RBMXENSG00000147274ENST00000320676p.R223Rc.669A>GSubstitution - coding silent
GPR182ENSG00000166856ENST00000300098p.A217Ac.651G>ASubstitution - coding silent
FRMD4AENSG00000151474ENST00000357447p.R480Cc.1438C>TSubstitution - Missense
KLC1ENSG00000126214ENST00000389744p.?c.572-8C>TUnknown
LRIG3ENSG00000139263ENST00000320743p.S1081Lc.3242C>TSubstitution - Missense
ACBD5ENSG00000107897ENST00000396271p.K153Rc.458A>GSubstitution - Missense
LIFRENSG00000113594ENST00000263409p.R418Lc.1253G>TSubstitution - Missense
WDR70ENSG00000082068ENST00000265107p.G447Gc.1341A>GSubstitution - coding silent
CADPSENSG00000163618ENST00000383710p.A1329Tc.3985G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.A893Ac.2679G>ASubstitution - coding silent
NM_014209.1p.P188Pc.564C>GSubstitution - coding silent
VPS13AENSG00000197969ENST00000360280p.S665Tc.1994G>CSubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.S665Tc.1994G>CSubstitution - Missense
SIRT6ENSG00000077463ENST00000337491p.P27Pc.81G>ASubstitution - coding silent
C19orf47ENSG00000160392ENST00000392035p.A225Ac.675C>TSubstitution - coding silent
SUPT5HENSG00000196235ENST00000359191p.D810Gc.2429A>GSubstitution - Missense
RBMXENSG00000147274ENST00000320676p.S249Yc.746C>ASubstitution - Missense
MYOTENSG00000120729ENST00000239926p.M269Tc.806T>CSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.D37Nc.109G>ASubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.P1316Lc.3947C>TSubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.V709Ac.2126T>CSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.S11Yc.32C>ASubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.R328*c.982C>TSubstitution - Nonsense
HIST1H3JENSG00000197153ENST00000359303p.I52Ic.156C>TSubstitution - coding silent
PCDHB14ENSG00000120327ENST00000239449p.A635Ac.1905G>CSubstitution - coding silent
CDHR3ENSG00000128536ENST00000317716p.S78Tc.232T>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.S78Tc.232T>ASubstitution - Missense
ENST00000319379p.S4632Tc.13894T>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L3059Lc.9177C>ASubstitution - coding silent
ENST00000319379p.L3004Lc.9012C>ASubstitution - coding silent
ENST00000450194p.?c.2016-1G>TUnknown
ASZ1ENSG00000154438ENST00000284629p.L233fs*5c.699_702delACTTDeletion - Frameshift
NWD1ENSG00000188039ENST00000339803p.V1338fs*5c.4013delTDeletion - Frameshift
OR10H5ENSG00000172519ENST00000308940p.P269Pc.807G>ASubstitution - coding silent
CCNFENSG00000162063ENST00000397066p.?c.1715+7T>AUnknown
CCNFENSG00000162063ENST00000397066p.?c.1715+7T>AUnknown
MBD5ENSG00000204406ENST00000407073p.S512Sc.1536C>TSubstitution - coding silent
CACNB4ENSG00000182389ENST00000539935p.S183Rc.547A>CSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.V116fs*38c.343_346delTGTGDeletion - Frameshift
C8orf48ENSG00000164743ENST00000297324p.T22Ic.65C>TSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.P229Pc.687A>GSubstitution - coding silent
OR1L4ENSG00000136939ENST00000259466p.H245Qc.735C>ASubstitution - Missense
ENST00000373926p.T207Tc.621T>GSubstitution - coding silent
CIZ1ENSG00000148337ENST00000372938p.?c.682+6G>AUnknown
RALGPS1ENSG00000136828ENST00000373434p.S411Cc.1232C>GSubstitution - Missense
LURAP1LENSG00000153714ENST00000319264p.G55_C56insGGc.147_148insGGTGGCInsertion - In frame
KNG1ENSG00000113889ENST00000265023p.V312Gc.935T>GSubstitution - Missense
KNG1ENSG00000113889ENST00000287611p.V312Gc.935T>GSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.?c.2347+3A>TUnknown
HRH2ENSG00000113749ENST00000377291p.G258Gc.774G>ASubstitution - coding silent
HRH2ENSG00000113749ENST00000231683p.G258Gc.774G>ASubstitution - coding silent
GABRPENSG00000094755ENST00000518525p.Q235Hc.705G>CSubstitution - Missense
ISL1ENSG00000016082ENST00000230658p.F105Lc.315C>ASubstitution - Missense
DOK3ENSG00000146094ENST00000357198p.S389Cc.1165A>TSubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.M1Ic.3G>ASubstitution - Missense
C6orf25ENSG00000204420ENST00000375806p.P62Lc.185C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.A3969Sc.11905G>TSubstitution - Missense
CRISP3ENSG00000096006ENST00000263045p.A52Ec.155C>ASubstitution - Missense
ENSG00000150076ENST00000375025p.H125Rc.374A>GSubstitution - Missense
FGFR2ENSG00000066468ENST00000369056p.I423Mc.1269C>GSubstitution - Missense
ZNF30ENSG00000168661ENST00000426813p.C153Cc.459C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.F966Fc.2898C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370715p.F1028Fc.3084C>TSubstitution - coding silent
UVRAGENSG00000198382ENST00000538870p.G147Rc.439G>ASubstitution - Missense
LRIG3ENSG00000139263ENST00000379141p.L349Lc.1045T>CSubstitution - coding silent
KRT80ENSG00000167767ENST00000313234p.R296Lc.887G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.?c.703+2T>AUnknown
CABP4ENSG00000175544ENST00000438189p.S69Lc.206C>TSubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.T316Ac.946A>GSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.?c.580+8G>CUnknown
NTNG1ENSG00000162631ENST00000542803p.T200Mc.599C>TSubstitution - Missense
UBE4BENSG00000130939ENST00000377157p.H518Hc.1554T>CSubstitution - coding silent
ATP12AENSG00000075673ENST00000218548p.T101Mc.302C>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000360422p.L58Lc.174G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.K1680Rc.5039A>GSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.D664Gc.1991A>GSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.?c.1904+1G>AUnknown
GPR64ENSG00000173698ENST00000357991p.P345Tc.1033C>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.N1295Nc.3885C>TSubstitution - coding silent
USP37ENSG00000135913ENST00000258399p.D85Ec.255C>ASubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.P166Hc.497C>ASubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.L45Mc.133C>ASubstitution - Missense
AGFG1ENSG00000173744ENST00000310078p.A460Vc.1379C>TSubstitution - Missense
KALRNENSG00000160145ENST00000291478p.S1279Gc.3835A>GSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.T140Ac.418A>GSubstitution - Missense
CCDC14ENSG00000175455ENST00000433542p.T878Ac.2632A>GSubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.T919Ac.2755A>GSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.A1168Ac.3504C>ASubstitution - coding silent
LMF2ENSG00000100258ENST00000216080p.A667Ac.2001C>TSubstitution - coding silent
ARFGAP3ENSG00000242247ENST00000263245p.L479Lc.1437G>ASubstitution - coding silent
ROPN1BENSG00000114547ENST00000251776p.G196Gc.588T>CSubstitution - coding silent
CCR5ENSG00000160791ENST00000343801p.C20Sc.58T>ASubstitution - Missense
UPK3BLENSG00000267368ENST00000340457p.V174Mc.520G>ASubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.S279Cc.836C>GSubstitution - Missense
BTBD9ENSG00000183826ENST00000314100p.I204Ic.612A>TSubstitution - coding silent
GLO1ENSG00000124767ENST00000373365p.G126Ac.377G>CSubstitution - Missense
BRPF3ENSG00000096070ENST00000357641p.?c.3083+10C>TUnknown
BNC2ENSG00000173068ENST00000380672p.K1005Nc.3015G>TSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.M774Ic.2322G>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.R180Qc.539G>ASubstitution - Missense
APOBRENSG00000184730ENST00000328423p.S953*c.2858C>GSubstitution - Nonsense
NAPAENSG00000105402ENST00000263354p.G289Gc.867C>TSubstitution - coding silent
ENST00000317082p.K1042Ic.3125A>TSubstitution - Missense
ENST00000317082_v61p.K1042Ic.3125A>TSubstitution - Missense
SPOPLENSG00000144228ENST00000280098p.V51Vc.153G>TSubstitution - coding silent
MCM6ENSG00000076003ENST00000264156p.Q212Qc.636A>GSubstitution - coding silent
MAATS1ENSG00000183833ENST00000273390p.E459Qc.1375G>CSubstitution - Missense
GYPBENSG00000250361ENST00000502664p.T23Nc.68C>ASubstitution - Missense
STIM2ENSG00000109689ENST00000237364p.?c.1064+4A>CUnknown
GPR98ENSG00000164199ENST00000405460p.S1555Lc.4664C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.N2588Sc.7763A>GSubstitution - Missense
PDXPENSG00000241360ENST00000215904p.L209fs*44c.626delTDeletion - Frameshift
RAVER1ENSG00000161847ENST00000293677p.L150Lc.450G>CSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.?c.7338-1G>TUnknown
KAL1ENSG00000011201ENST00000262648p.Q242Qc.726G>ASubstitution - coding silent
ZC3H7BENSG00000100403ENST00000352645p.A118Ac.354G>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.S4314Yc.12941C>ASubstitution - Missense
GOPCENSG00000047932ENST00000368498p.E161Gc.482A>GSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.I726Tc.2177T>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.E1919Vc.5756A>TSubstitution - Missense
DDX43ENSG00000080007ENST00000370336p.?c.927-8C>GUnknown
EEF1A1ENSG00000156508ENST00000316292p.V441Vc.1323G>ASubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.L424Lc.1272C>GSubstitution - coding silent
PHIPENSG00000146247ENST00000275034p.G1242Vc.3725G>TSubstitution - Missense
CCL18ENSG00000006074ENST00000004921p.P40Ac.118C>GSubstitution - Missense
RDM1ENSG00000187456ENST00000293273p.V238Ic.712G>ASubstitution - Missense
RFFLENSG00000092871ENST00000394597p.E143Dc.429G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.D244Nc.730G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.D244Nc.730G>ASubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.?c.966+5C>GUnknown
COX11ENSG00000166260ENST00000576370p.R73Rc.219G>TSubstitution - coding silent
USP6ENSG00000129204ENST00000250066p.S445Sc.1335C>GSubstitution - coding silent
NM_004505.1p.S445Sc.1335C>GSubstitution - coding silent
INCA1ENSG00000196388ENST00000355025p.?c.159-8C>TUnknown
KIF18BENSG00000186185ENST00000339151p.R611Qc.1832G>ASubstitution - Missense
ENST00000335500p.N1158Tc.3473A>CSubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.R257Rc.771G>ASubstitution - coding silent
GRIK1ENSG00000171189ENST00000535441p.A751Vc.2252C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.T2497Tc.7491A>GSubstitution - coding silent
ZBTB49ENSG00000168826ENST00000337872p.G531Rc.1591G>ASubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.R786Ic.2357G>TSubstitution - Missense
BTN3A3ENSG00000111801ENST00000244519p.A60Vc.179C>TSubstitution - Missense
DCDC2ENSG00000146038ENST00000378450p.M46Ic.138G>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.S1367Fc.4100C>TSubstitution - Missense
C7orf55ENSG00000164898ENST00000297534p.H84Pc.251A>CSubstitution - Missense
SMURF1ENSG00000198742ENST00000361125p.P307Qc.920C>ASubstitution - Missense
ENSG00000173213ENST00000308911p.L240Lc.720G>TSubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.E1295*c.3883G>TSubstitution - Nonsense
NLRP7ENSG00000167634ENST00000448121p.S843Rc.2529T>ASubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.N19Nc.57C>TSubstitution - coding silent
ENST00000424015p.L33Lc.99G>TSubstitution - coding silent
ENST00000424015p.V266Vc.798G>CSubstitution - coding silent
MBD2ENSG00000134046ENST00000583046p.L170Rc.509T>GSubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.A24Vc.71C>TSubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.R84Lc.251G>TSubstitution - Missense
COMMD7ENSG00000149600ENST00000278980p.?c.299-4A>GUnknown
CST5ENSG00000170367ENST00000304710p.R92Qc.275G>ASubstitution - Missense
ENST00000544929p.L192Vc.574C>GSubstitution - Missense
ATG4BENSG00000168397ENST00000404914p.R201Wc.601C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.F1000Lc.3000C>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.?c.4281-2A>GUnknown
OR1F1ENSG00000168124ENST00000304646p.A119fs*18c.354delGDeletion - Frameshift
ITFG3ENSG00000167930ENST00000450082p.S531Lc.1592C>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.S1077Sc.3231C>TSubstitution - coding silent
ATP2B2ENSG00000157087ENST00000360273p.Q775*c.2323C>TSubstitution - Nonsense
IRAK2ENSG00000134070ENST00000256458p.P267Sc.799C>TSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.P267Lc.800C>TSubstitution - Missense
SENP7ENSG00000138468ENST00000394095p.V409Dc.1226T>ASubstitution - Missense
NM_020654.2p.V343Dc.1028T>ASubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.K692Ec.2074A>GSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.R793Rc.2379A>TSubstitution - coding silent
EMC8ENSG00000131148ENST00000253457p.A25Pc.73G>CSubstitution - Missense
HPS4ENSG00000100099ENST00000398141p.E337_N338insACPDGRKEc.987_988ins24Insertion - In frame
MUC4ENSG00000145113ENST00000463781p.P1138Tc.3412C>ASubstitution - Missense
TSSC1ENSG00000032389ENST00000382125p.P264Tc.790C>ASubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.A575Gc.1724C>GSubstitution - Missense
CYP2U1ENSG00000155016ENST00000332884p.K476*c.1426A>TSubstitution - Nonsense
SEC24BENSG00000138802ENST00000265175p.S987Rc.2959A>CSubstitution - Missense
SEC24BENSG00000138802ENST00000399100p.S952Rc.2854A>CSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.A575Gc.1724C>GSubstitution - Missense
UBA1ENSG00000130985ENST00000377269p.A23Ac.69C>ASubstitution - coding silent
ENST00000269290p.W29*c.87G>ASubstitution - Nonsense
TMPPEENSG00000188167ENST00000342462p.A252Ac.756C>TSubstitution - coding silent
ANAPC1ENSG00000153107ENST00000341068p.L723Fc.2167C>TSubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.D150Vc.449A>TSubstitution - Missense
ATP5HENSG00000167863ENST00000301587p.L8Lc.24A>GSubstitution - coding silent
FDXRENSG00000161513ENST00000581530p.K273Nc.819G>CSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.S963Fc.2888C>TSubstitution - Missense
SMPD3ENSG00000103056ENST00000219334p.P239Pc.717G>ASubstitution - coding silent
WASH4PENSG00000234769ENST00000538848p.V132Vc.396G>TSubstitution - coding silent
NR2C2ENSG00000177463ENST00000323373p.A336Gc.1007C>GSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.A251Ac.753C>TSubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000251582p.H356Hc.1068C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.I1681Sc.5042T>GSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.P4882Tc.14644C>ASubstitution - Missense
PRSS12ENSG00000164099ENST00000296498p.?c.2320+6G>CUnknown
UTRNENSG00000152818ENST00000367545p.A3393Ac.10179G>TSubstitution - coding silent
GPR126ENSG00000112414ENST00000296932p.?c.2+1G>AUnknown
PLGENSG00000122194ENST00000308192p.R786Lc.2357G>TSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.V1358Vc.4074G>TSubstitution - coding silent
OPRM1ENSG00000112038ENST00000229768p.L58Lc.174G>ASubstitution - coding silent
PLEKHG3ENSG00000126822ENST00000247226p.R426Tc.1277G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.L429Fc.1287A>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.F1028Fc.3084C>TSubstitution - coding silent
SERPINA12ENSG00000165953ENST00000556881p.E114Kc.340G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.C1007Yc.3020G>ASubstitution - Missense
GRK1ENSG00000185974ENST00000335678p.F58Sc.173T>CSubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.D913Nc.2737G>ASubstitution - Missense
TNFSF13BENSG00000102524ENST00000375887p.?c.340-5C>TUnknown
ARHGAP29ENSG00000137962ENST00000260526p.A497Ac.1491C>GSubstitution - coding silent
RANBP3LENSG00000164188ENST00000296604p.H145Rc.434A>GSubstitution - Missense
RAD51ENSG00000051180ENST00000267868p.*340Rc.1018T>CNonstop extension
ARHGAP11AENSG00000198826ENST00000361627p.Q284Kc.850C>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.Y4478fs*1c.13432_13433insAInsertion - Frameshift
NM_014363.3p.Y4331fs*1c.12991_12992insAInsertion - Frameshift
ENST00000446427p.P417Rc.1250C>GSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.E770*c.2308G>TSubstitution - Nonsense
LIFRENSG00000113594ENST00000263409p.R418Lc.1253G>TSubstitution - Missense
ITGA3ENSG00000005884ENST00000007722p.?c.1157-7T>CUnknown
ITGAVENSG00000138448ENST00000261023p.N262Sc.785A>GSubstitution - Missense
CERKLENSG00000188452ENST00000339098p.T34Tc.102G>TSubstitution - coding silent
C2orf43ENSG00000118961ENST00000237822p.A64Ac.192A>GSubstitution - coding silent
INO80DENSG00000114933ENST00000403263p.T649Tc.1947C>ASubstitution - coding silent
ENST00000361576p.T130Tc.390C>TSubstitution - coding silent
FAM120AENSG00000048828ENST00000375389p.H341Rc.1022A>GSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.S362Sc.1086C>TSubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.N361Sc.1082A>GSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.N361Hc.1081A>CSubstitution - Missense
ENST00000252622_v68p.K4Nc.12G>CSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.N322Nc.966C>TSubstitution - coding silent
ENST00000300671p.T4306Mc.12917C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.673-2A>CUnknown
TP53ENSG00000141510ENST00000455263p.?c.673-2A>CUnknown
TP53ENSG00000141510ENST00000413465p.?c.673-2A>CUnknown
GALK1ENSG00000108479ENST00000225614p.?c.356-3C>TUnknown
ENST00000374477p.R81Cc.241C>TSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.?c.562+6T>CUnknown
ENST00000301415p.?c.562+6T>CUnknown
ZNF800ENSG00000048405ENST00000393313p.A573Gc.1718C>GSubstitution - Missense
ZNF800ENSG00000048405ENST00000393312p.A573Gc.1718C>GSubstitution - Missense
SMC5ENSG00000198887ENST00000361138p.N395Dc.1183A>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.Q303*c.907C>TSubstitution - Nonsense
ENST00000399933_v61p.I1099Ic.3297C>TSubstitution - coding silent
KIAA2026ENSG00000183354ENST00000399933p.I274Ic.822C>TSubstitution - coding silent
KIAA2026ENSG00000183354ENST00000399933p.Q261*c.781C>TSubstitution - Nonsense
ENST00000399933_v61p.S1702Lc.5105C>TSubstitution - Missense
ENST00000399933_v61p.S1696*c.5087C>GSubstitution - Nonsense
ENST00000399933_v61p.V1682Vc.5046C>TSubstitution - coding silent
ENST00000399933_v61p.S1664Fc.4991C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.?c.2767-6C>TUnknown
ENST00000377824p.P307Pc.921G>ASubstitution - coding silent
RNF38ENSG00000137075ENST00000259605p.T405Ac.1213A>GSubstitution - Missense
IL17RBENSG00000056736ENST00000288167p.P202Pc.606C>TSubstitution - coding silent
CDCA2ENSG00000184661ENST00000330560p.R765Kc.2294G>ASubstitution - Missense
PAFAH1B1ENSG00000007168ENST00000397195p.E26Dc.78G>CSubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.L435Lc.1303T>CSubstitution - coding silent
SLC47A1ENSG00000142494ENST00000270570p.V279Vc.837C>TSubstitution - coding silent
LAMA3ENSG00000053747ENST00000313654p.H1138Qc.3414C>ASubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.P1139Ac.3415C>GSubstitution - Missense
TBCDENSG00000141556ENST00000355528p.A1145Ac.3435G>ASubstitution - coding silent
FASNENSG00000169710ENST00000306749p.Q1730Hc.5190G>TSubstitution - Missense
HGSENSG00000185359ENST00000329138p.S240Gc.718A>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.N926Ic.2777A>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.N926Ic.2777A>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.F48Fc.144C>TSubstitution - coding silent
USPL1ENSG00000132952ENST00000255304p.D785Yc.2353G>TSubstitution - Missense
PHC2ENSG00000134686ENST00000257118p.S158Ac.472T>GSubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.L59Fc.175C>TSubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.P525Pc.1575G>TSubstitution - coding silent
UEVLDENSG00000151116ENST00000543987p.A83Tc.247G>ASubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.Q363Qc.1089A>GSubstitution - coding silent
HMBSENSG00000256269ENST00000278715p.K62Rc.185A>GSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.H1735Hc.5205C>TSubstitution - coding silent
SLC16A1ENSG00000155380ENST00000369626p.V22Mc.64G>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000370071p.T200Mc.599C>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.R455Cc.1363C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.8787+2T>AUnknown
CUBNENSG00000107611ENST00000377833p.A3140Tc.9418G>ASubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.I671Vc.2011A>GSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.I671Vc.2011A>GSubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.V502Lc.1504G>CSubstitution - Missense
EXD2ENSG00000081177ENST00000409014p.V377Lc.1129G>CSubstitution - Missense
ZNF488ENSG00000165388ENST00000395702p.R327Pc.980G>CSubstitution - Missense
FAM169BENSG00000185087ENST00000558256p.H37Rc.110A>GSubstitution - Missense
HNRNPH3ENSG00000096746ENST00000265866p.Y262Yc.786T>CSubstitution - coding silent
TET1ENSG00000138336ENST00000373644p.P856Qc.2567C>ASubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.A73fs*2c.217_227del11Deletion - Frameshift
MUTYHENSG00000132781ENST00000372098p.Y101*c.303C>ASubstitution - Nonsense
KIF2CENSG00000142945ENST00000372224p.R240Qc.719G>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.Y4039Cc.12116A>GSubstitution - Missense
TNFRSF4ENSG00000186827ENST00000379236p.L227fs*>51c.678delGDeletion - Frameshift
MAP1AENSG00000166963ENST00000300231p.P1511Lc.4532C>TSubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.M833Tc.2498T>CSubstitution - Missense
POGZENSG00000143442ENST00000271715p.P54Pc.162C>TSubstitution - coding silent
PCSK9ENSG00000169174ENST00000302118p.L411Vc.1231T>GSubstitution - Missense
ZCCHC11ENSG00000134744ENST00000257177p.?c.3436-6A>GUnknown
AGBL4ENSG00000186094ENST00000371839p.S149Fc.446C>TSubstitution - Missense
AGBL4ENSG00000186094ENST00000371838p.S149Fc.446C>TSubstitution - Missense
POMGNT1ENSG00000085998ENST00000371984p.G94Gc.282T>GSubstitution - coding silent
ENST00000322367p.D1410Hc.4228G>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.D1761Nc.5281G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.D1754Nc.5260G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.D1791Nc.5371G>ASubstitution - Missense
ENST00000322367p.D1248Nc.3742G>ASubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.S754Nc.2261G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.D1923Hc.5767G>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.D1916Hc.5746G>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.D1910Hc.5728G>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.D1988Hc.5962G>CSubstitution - Missense
ENST00000312528p.L158Ic.472T>ASubstitution - Missense
LAD1ENSG00000159166ENST00000391967p.T285Ac.853A>GSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.N1510Kc.4530C>GSubstitution - Missense
MRPL20ENSG00000242485ENST00000344843p.R57Qc.170G>ASubstitution - Missense
VWA1ENSG00000179403ENST00000476993p.R81Qc.242G>ASubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.V184Vc.552G>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.A3298Ac.9894C>TSubstitution - coding silent
ENST00000280576p.A1890Ac.5670C>TSubstitution - coding silent
ENST00000280576p.Q1402Hc.4206G>CSubstitution - Missense
MED17ENSG00000042429ENST00000251871p.Q547Hc.1641A>TSubstitution - Missense
C1orf87ENSG00000162598ENST00000371201p.L312Lc.936A>GSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000493901p.A151Ac.453C>TSubstitution - coding silent
UBXN11ENSG00000158062ENST00000374222p.V63Gc.188T>GSubstitution - Missense
PGBD2ENSG00000185220ENST00000355360p.Q318*c.952C>TSubstitution - Nonsense
OR2T33ENSG00000177212ENST00000318021p.D269Dc.807C>TSubstitution - coding silent
FAM73AENSG00000180488ENST00000370791p.R274Gc.820A>GSubstitution - Missense
ZZZ3ENSG00000036549ENST00000370801p.S349Sc.1047C>TSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000395325p.?c.2463+10G>AUnknown
LEPRENSG00000116678ENST00000349533p.C99Yc.296G>ASubstitution - Missense
LEPRENSG00000116678ENST00000371060p.C99Yc.296G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.L145Rc.434T>GSubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.I878Ic.2634C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.?c.673-2A>CUnknown
ENST00000319946p.F30Fc.90C>TSubstitution - coding silent
KCNRGENSG00000198553ENST00000312942p.K271Nc.813G>TSubstitution - Missense
OLFML1ENSG00000183801ENST00000329293p.Y176Cc.527A>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.L517Fc.1549C>TSubstitution - Missense
MAMDC2ENSG00000165072ENST00000377182p.L100Lc.300G>ASubstitution - coding silent
MEIOBENSG00000162039ENST00000325962p.V164Ic.490G>ASubstitution - Missense
CNR1ENSG00000118432ENST00000369499p.F381Lc.1143C>ASubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.S457Lc.1370C>TSubstitution - Missense
ZNF30ENSG00000168661ENST00000439785p.C235Cc.705C>TSubstitution - coding silent
SEMA7AENSG00000138623ENST00000261918p.R622Hc.1865G>ASubstitution - Missense
ADCK1ENSG00000063761ENST00000238561p.R135Qc.404G>ASubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.R379Cc.1135C>TSubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.R379Cc.1135C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.R454Lc.1361G>TSubstitution - Missense
TRAF5ENSG00000082512ENST00000336184p.E219Dc.657G>TSubstitution - Missense
RBMXENSG00000147274ENST00000431446p.E115Gc.344A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.L145Rc.434T>GSubstitution - Missense
ENST00000545858p.L52Rc.155T>GSubstitution - Missense
ATF7ENSG00000170653ENST00000328463p.P487Sc.1459C>TSubstitution - Missense
SP1ENSG00000185591ENST00000327443p.Q470Qc.1410G>ASubstitution - coding silent
NPTNENSG00000156642ENST00000345330p.R117Gc.349A>GSubstitution - Missense
SETDB2ENSG00000136169ENST00000317257p.I559Tc.1676T>CSubstitution - Missense
GPN3ENSG00000111231ENST00000543199p.H286Yc.856C>TSubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.H763Hc.2289T>CSubstitution - coding silent
UBE4BENSG00000130939ENST00000253251p.H634Hc.1902T>CSubstitution - coding silent
HS6ST3ENSG00000185352ENST00000376705p.*472Rc.1414T>ANonstop extension
LBRENSG00000143815ENST00000272163p.A7Ac.21C>TSubstitution - coding silent
HSPG2ENSG00000142798ENST00000453796p.V164Mc.490G>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.L17Lc.49C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.L17Lc.49C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.L69Lc.205C>TSubstitution - coding silent
FZD8ENSG00000177283ENST00000374694p.S606Sc.1818C>TSubstitution - coding silent
ANO9ENSG00000185101ENST00000332826p.Y438Cc.1313A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T2279Sc.6836C>GSubstitution - Missense
ENST00000349637p.T2282Sc.6845C>GSubstitution - Missense
SDR9C7ENSG00000170426ENST00000293502p.D237Yc.709G>TSubstitution - Missense
ENST00000328408p.I49Tc.146T>CSubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.I202Tc.605T>CSubstitution - Missense
BCANENSG00000132692ENST00000329117p.R605Gc.1813A>GSubstitution - Missense
BCANENSG00000132692ENST00000361588p.R605Gc.1813A>GSubstitution - Missense
OR4S1ENSG00000176555ENST00000319988p.F26Lc.76T>CSubstitution - Missense
LIN7AENSG00000111052ENST00000552864p.E41Kc.121G>ASubstitution - Missense
GAPDHENSG00000111640ENST00000229239p.A21Ac.63T>ASubstitution - coding silent
TBK1ENSG00000183735ENST00000331710p.T210Tc.630A>TSubstitution - coding silent
TBK1ENSG00000183735ENST00000331710p.T210Tc.630A>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.A501Ac.1503T>GSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000204726p.M596Vc.1786A>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.M596Vc.1786A>GSubstitution - Missense
UVRAGENSG00000198382ENST00000356136p.G591Rc.1771G>ASubstitution - Missense
C11orf30ENSG00000158636ENST00000334736p.S704Lc.2111C>TSubstitution - Missense
PAOXENSG00000148832ENST00000357296p.V183Ic.547G>ASubstitution - Missense
ENST00000368915p.?c.3280+10C>TUnknown
ACIN1ENSG00000100813ENST00000262710p.K821Rc.2462A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S365Rc.1095C>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.F1273Fc.3819C>TSubstitution - coding silent
VEZTENSG00000028203ENST00000436874p.L278Lc.832C>TSubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.N1282Kc.3846C>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000358487p.I422Mc.1266C>GSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369248p.V514Vc.1542A>CSubstitution - coding silent
ALG5ENSG00000120697ENST00000239891p.K93Ec.277A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.I1929Vc.5785A>GSubstitution - Missense


COSMIC

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