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Huh-7 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

962 mutations reported
363 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
SLMAPENSG00000163681ENST00000428312p.R731Qc.2192G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T1748Ic.5243C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.G959Sc.2875G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.A201Vc.602C>TSubstitution - Missense
POTEFENSG00000196604ENST00000357462p.Q668Qc.2004G>ASubstitution - coding silent
ENST00000372191p.G142Rc.424G>CSubstitution - Missense
PLEKHH3ENSG00000068137ENST00000293349p.E35Kc.103G>ASubstitution - Missense
NM_004440p.A863Ac.2589T>ASubstitution - coding silent
C19orf57ENSG00000132016ENST00000346736p.P301Pc.903C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.T1273Ic.3818C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000446217p.L142Lc.426A>GSubstitution - coding silent
DUOX1ENSG00000137857ENST00000561166p.R392Rc.1176G>ASubstitution - coding silent
ENST00000396394_v70p.?c.624+1_625-1del3105Unknown
NEK11ENSG00000114670ENST00000511262p.V164Ic.490G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
ENST00000328843_v70p.R815Wc.2443A>TSubstitution - Missense
CDONENSG00000064309ENST00000263577p.S37Tc.109T>ASubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.V559Fc.1675G>TSubstitution - Missense
GOT1ENSG00000120053ENST00000370508p.?c.1102+1_1103-1del4893Unknown
ENST00000450802_v68p.A204Vc.611C>TSubstitution - Missense
NM_000926.2p.M924Lc.2770A>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.S784Yc.2351C>ASubstitution - Missense
FANCCENSG00000158169ENST00000289081p.R185*c.553C>TSubstitution - Nonsense
ANKRD20A4ENSG00000172014ENST00000357336p.L60Vc.178C>GSubstitution - Missense
HELZENSG00000198265ENST00000358691p.G498Dc.1493G>ASubstitution - Missense
IMPA1ENSG00000133731ENST00000256108p.E162Ec.486G>ASubstitution - coding silent
PIEZO2ENSG00000154864ENST00000302079p.E465Kc.1393G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T931Tc.2793C>ASubstitution - coding silent
SLC16A5ENSG00000170190ENST00000580123p.A337Ac.1011G>ASubstitution - coding silent
HPSEENSG00000173083ENST00000311412p.A84Dc.251C>ASubstitution - Missense
C2orf73ENSG00000177994ENST00000398634p.V91Ic.271G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.V3877Lc.11629G>TSubstitution - Missense
PLCL2ENSG00000154822ENST00000418129p.V837Lc.2509G>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.P486Pc.1458C>TSubstitution - coding silent
ENST00000296885p.K475Rc.1424A>GSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.E1276Kc.3826G>ASubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.L305Lc.913C>TSubstitution - coding silent
TAOK2ENSG00000149930ENST00000416441p.S920Sc.2760A>GSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.Y220Cc.659A>GSubstitution - Missense
RPH3AENSG00000089169ENST00000389385p.K503Rc.1508A>GSubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1082Hc.3245C>ASubstitution - Missense
ACANENSG00000157766ENST00000439576p.G1697Rc.5089G>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.G62Gc.186C>GSubstitution - coding silent
HPSE2ENSG00000172987ENST00000370546p.D355Nc.1063G>ASubstitution - Missense
TMC5ENSG00000103534ENST00000396229p.H119Qc.357C>GSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.D797Ec.2391C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.R3298Rc.9892C>ASubstitution - coding silent
NPAS3ENSG00000151322ENST00000346562p.P417Pc.1251C>GSubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.T1757Tc.5271C>GSubstitution - coding silent
MANFENSG00000145050ENST00000528157p.T129Ic.386C>TSubstitution - Missense
NM_003319p.A14546Ac.43638G>ASubstitution - coding silent
HIRAENSG00000100084ENST00000263208p.N245Hc.733A>CSubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.M210Kc.629T>ASubstitution - Missense
NPHP1ENSG00000144061ENST00000316534p.E183Gc.548A>GSubstitution - Missense
TSEN54ENSG00000182173ENST00000333213p.F518Lc.1552T>CSubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.Q196Qc.588G>ASubstitution - coding silent
ST6GAL2ENSG00000144057ENST00000361686p.G245Rc.733G>CSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.R815Wc.2443A>TSubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.Q473Qc.1419A>GSubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.S1746Fc.5237C>TSubstitution - Missense
PRR16ENSG00000184838ENST00000407149p.K4Mc.11A>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.A627Vc.1880C>TSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.G967Gc.2901G>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
PRXENSG00000105227ENST00000324001p.D651Nc.1951G>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.E1340Vc.4019A>TSubstitution - Missense
HS3ST1ENSG00000002587ENST00000002596p.R205Cc.613C>TSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.?c.137+10A>GUnknown
GAL3ST4ENSG00000197093ENST00000360039p.Y171_S174delYYKSc.511_522del12Deletion - In frame
HIPK4ENSG00000160396ENST00000291823p.R50Gc.148C>GSubstitution - Missense
HIST1H2BJENSG00000124635ENST00000541790p.K58Nc.174G>TSubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.P583Lc.1748C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.S1019Cc.3056C>GSubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.F705Lc.2113T>CSubstitution - Missense
SPRR2DENSG00000163216ENST00000368756p.P46Tc.136C>ASubstitution - Missense
UBAC2ENSG00000134882ENST00000376440p.T203fs*18c.606_607insCCInsertion - Frameshift
SNAP47ENSG00000143740ENST00000366759p.K103Rc.308A>GSubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.?c.2216+10G>AUnknown
KMT2DENSG00000167548ENST00000301067p.P2978Pc.8934T>CSubstitution - coding silent
ENST00000563027_v68p.L478Rc.1433T>GSubstitution - Missense
TPSAB1ENSG00000172236ENST00000338844p.Y270Cc.809A>GSubstitution - Missense
SZT2ENSG00000198198ENST00000372450p.?c.492+6G>TUnknown
MYO3AENSG00000095777ENST00000543632p.G105Gc.315A>TSubstitution - coding silent
PIWIL1ENSG00000125207ENST00000245255p.T18Sc.52A>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.L268Lc.804A>GSubstitution - coding silent
OR2T4ENSG00000196944ENST00000366475p.L167Vc.499C>GSubstitution - Missense
ZMYM5ENSG00000132950ENST00000337963p.H278Rc.833A>GSubstitution - Missense
VCPIP1ENSG00000175073ENST00000310421p.R1106Lc.3317G>TSubstitution - Missense
MTERFD1ENSG00000156469ENST00000287025p.N81Tc.242A>CSubstitution - Missense
CPNE2ENSG00000140848ENST00000290776p.R195Tc.584G>CSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.D73Ec.219T>ASubstitution - Missense
KIFC2ENSG00000167702ENST00000301332p.?c.1486-10C>AUnknown
DTNBENSG00000138101ENST00000406818p.S294Cc.881C>GSubstitution - Missense
LRCH3ENSG00000186001ENST00000438796p.S318Nc.953G>ASubstitution - Missense
LLGL2ENSG00000073350ENST00000392550p.A547Tc.1639G>ASubstitution - Missense
SLCO4C1ENSG00000173930ENST00000310954p.G243Gc.729A>TSubstitution - coding silent
LHFPL5ENSG00000197753ENST00000373853p.E217Gc.650A>GSubstitution - Missense
PRR11ENSG00000068489ENST00000262293p.A72Ac.216A>GSubstitution - coding silent
SOX30ENSG00000039600ENST00000265007p.C574Rc.1720T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.?c.18732+7_18825+10>CTTAGUnknown
PTPRN2ENSG00000155093ENST00000404321p.S645Tc.1933T>ASubstitution - Missense
GSX2ENSG00000180613ENST00000326902p.V45Lc.133G>CSubstitution - Missense
FAM32AENSG00000105058ENST00000263384p.L37Lc.111C>GSubstitution - coding silent
PRPF40AENSG00000196504ENST00000410080p.S614Tc.1841G>CSubstitution - Missense
PRPF40AENSG00000196504ENST00000354363p.S510Tc.1529G>CSubstitution - Missense
FGFR4ENSG00000160867ENST00000292408p.L305Lc.913C>TSubstitution - coding silent
ITGA1ENSG00000213949ENST00000282588p.L764Lc.2290T>CSubstitution - coding silent
NTMENSG00000182667ENST00000427481p.T209Tc.627C>TSubstitution - coding silent
C1orf110ENSG00000185860ENST00000367911p.K64Rc.191A>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.V1337Mc.4009G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
MPHOSPH10ENSG00000124383ENST00000244230p.I658Tc.1973T>CSubstitution - Missense
PTGISENSG00000124212ENST00000244043p.P30Sc.88C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.R269Gc.805C>GSubstitution - Missense
TUBA1BENSG00000123416ENST00000336023p.V363Vc.1089G>TSubstitution - coding silent
INTS5ENSG00000185085ENST00000330574p.T158Ac.472A>GSubstitution - Missense
SUPT16HENSG00000092201ENST00000216297p.G915Cc.2743G>TSubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.R1005Cc.3013C>TSubstitution - Missense
CDC123ENSG00000151465ENST00000281141p.E163Dc.489G>CSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.S191Sc.573G>ASubstitution - coding silent
RFX7ENSG00000181827ENST00000317318p.R560Rc.1680A>GSubstitution - coding silent
IFI6ENSG00000126709ENST00000361157p.S36Sc.108C>TSubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.K932Kc.2796G>ASubstitution - coding silent
ENST00000389520_v65p.T158Ac.472A>GSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.M7Vc.19A>GSubstitution - Missense
CDH15ENSG00000129910ENST00000289746p.P390Sc.1168C>TSubstitution - Missense
ANTXR2ENSG00000163297ENST00000307333p.R427Rc.1281G>ASubstitution - coding silent
GPD1LENSG00000152642ENST00000282541p.M78Vc.232A>GSubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.A547Tc.1639G>ASubstitution - Missense
POU3F3ENSG00000198914ENST00000361360p.A387Ac.1161G>TSubstitution - coding silent
AMER1ENSG00000184675ENST00000330258p.R350fs*27c.1050_1051delAGDeletion - Frameshift
NM_152424.1p.A229Vc.686C>TSubstitution - Missense
FABP7ENSG00000164434ENST00000368444p.?c.247-1G>TUnknown
FABP7ENSG00000164434ENST00000356535p.?c.247-1G>TUnknown
AIM1ENSG00000112297ENST00000369066p.P160Sc.478C>TSubstitution - Missense
TMEM247ENSG00000187600ENST00000434431p.F196delFc.581_583delTCTDeletion - In frame
LPOENSG00000167419ENST00000262290p.L669Vc.2005C>GSubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.A235fs*26c.702delADeletion - Frameshift
KMT2CENSG00000055609ENST00000262189p.L3234Fc.9700C>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.P486Pc.1458C>TSubstitution - coding silent
ZNF226ENSG00000167380ENST00000454662p.T771fs*10c.2311_2312insAInsertion - Frameshift
AQP8ENSG00000103375ENST00000219660p.I249Tc.746T>CSubstitution - Missense
ENST00000376664p.?c.160-5T>CUnknown
OR8I2ENSG00000172154ENST00000302124p.F113Lc.339C>ASubstitution - Missense
SLC45A2ENSG00000164175ENST00000345083p.V144fs*11c.429_430insAAGTInsertion - Frameshift
C19orf55ENSG00000167595ENST00000535581p.R310*c.928C>TSubstitution - Nonsense
SGCDENSG00000170624ENST00000447401p.?c.192+2T>CUnknown
CR2ENSG00000117322ENST00000367057p.G176Vc.527G>TSubstitution - Missense
ENST00000357329p.L86Lc.258G>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.P147fs*63c.437delCDeletion - Frameshift
STARD9ENSG00000159433ENST00000290607p.E743Dc.2229G>TSubstitution - Missense
ATL3ENSG00000184743ENST00000398868p.F231Ic.691T>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.?c.498+6G>TUnknown
XYLT1ENSG00000103489ENST00000261381p.Q931Hc.2793G>CSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.R3148Wc.9442C>TSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.Q804*c.2410C>TSubstitution - Nonsense
RUSC1ENSG00000160753ENST00000368354p.E92Vc.275A>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.E328Dc.984A>TSubstitution - Missense
CCDC68ENSG00000166510ENST00000337363p.M16Tc.47T>CSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.V1389fs*33c.4162_4175del14Deletion - Frameshift
RGS11ENSG00000076344ENST00000397770p.?c.863+1G>AUnknown
MUC12ENSG00000205277ENST00000536621p.T1605Ic.4814C>TSubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.?c.605+5G>AUnknown
FCHO1ENSG00000130475ENST00000252771p.A286Vc.857C>TSubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.R208Qc.623G>ASubstitution - Missense
SGCDENSG00000170624ENST00000337851p.?c.192+2T>CUnknown
FUKENSG00000157353ENST00000288078p.A233Ac.699C>TSubstitution - coding silent
NEK11ENSG00000114670ENST00000507910p.V164Ic.490G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.V2050Mc.6148G>ASubstitution - Missense
USP28ENSG00000048028ENST00000003302p.R247*c.739C>TSubstitution - Nonsense
ESYT1ENSG00000139641ENST00000394048p.?c.2115+10G>CUnknown
OBSCNENSG00000154358ENST00000284548p.R3893Wc.11677C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.E1261Dc.3783A>TSubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.?c.3571-7G>TUnknown
PPP1R32ENSG00000162148ENST00000338608p.?c.381+5G>AUnknown
AHNAK2ENSG00000185567ENST00000333244p.V2178Lc.6532G>TSubstitution - Missense
PAN3ENSG00000152520ENST00000380958p.S291Sc.873C>TSubstitution - coding silent
PPHLN1ENSG00000134283ENST00000358314p.R344Wc.1030C>TSubstitution - Missense
NTMENSG00000182667ENST00000374786p.T218Tc.654C>TSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.N1551Yc.4651A>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.G105Gc.315A>TSubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.L3375Lc.10125G>ASubstitution - coding silent
EXTL1ENSG00000158008ENST00000374280p.V522Gc.1565T>GSubstitution - Missense
AIM1LENSG00000176092ENST00000475866p.R125Cc.373C>TSubstitution - Missense
DCXENSG00000077279ENST00000338081p.I299Nc.896T>ASubstitution - Missense
APBA1ENSG00000107282ENST00000265381p.E158Ec.474G>ASubstitution - coding silent
ZNF721ENSG00000182903ENST00000338977p.R502Gc.1504A>GSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.G475Rc.1423G>CSubstitution - Missense
HIST1H1TENSG00000187475ENST00000338379p.K162Rc.485A>GSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.L96Vc.286C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A14738Ac.44214G>ASubstitution - coding silent
FGFR1ENSG00000077782ENST00000425967p.Q245Qc.735A>GSubstitution - coding silent
NOX3ENSG00000074771ENST00000159060p.G137Gc.411A>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.V876fs*33c.2623_2636del14Deletion - Frameshift
FPR3ENSG00000187474ENST00000339223p.T36Sc.107C>GSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.A703Ac.2109G>ASubstitution - coding silent
SEMA3AENSG00000075213ENST00000265362p.T457Tc.1371C>TSubstitution - coding silent
CNTN6ENSG00000134115ENST00000446702p.L7Lc.19C>TSubstitution - coding silent
C3orf52ENSG00000114529ENST00000431717p.I70Ic.210C>TSubstitution - coding silent
GRIN3AENSG00000198785ENST00000361820p.I218Vc.652A>GSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S2639Sc.7917C>TSubstitution - coding silent
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
TP53ENSG00000141510ENST00000420246p.Y220Cc.659A>GSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R2106Cc.6316C>TSubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.D651Ec.1953T>ASubstitution - Missense
ENST00000396394_v70p.?c.735+1_736-1del2407Unknown
CARD9ENSG00000187796ENST00000371734p.I355Vc.1063A>GSubstitution - Missense
ENST00000335203p.Q411Kc.1231C>ASubstitution - Missense
MTHFSENSG00000136371ENST00000258874p.I101Vc.301A>GSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P147fs*63c.437delCDeletion - Frameshift
CPSF3LENSG00000127054ENST00000435064p.D59Dc.177C>TSubstitution - coding silent
FAM214AENSG00000047346ENST00000261844p.S1032Tc.3094T>ASubstitution - Missense
SLTMENSG00000137776ENST00000380516p.?c.2690+6T>CUnknown
C12orf77ENSG00000226397ENST00000549828p.N124Nc.372C>TSubstitution - coding silent
RRBP1ENSG00000125844ENST00000360807p.I322Vc.964A>GSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.I755Vc.2263A>GSubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.Q764Rc.2291A>GSubstitution - Missense
GET4ENSG00000239857ENST00000265857p.N158Nc.474C>TSubstitution - coding silent
ENST00000304488p.L52Vc.154C>GSubstitution - Missense
POLR1BENSG00000125630ENST00000263331p.G232Sc.694G>ASubstitution - Missense
CRLF1ENSG00000006016ENST00000392386p.L100Lc.300G>ASubstitution - coding silent
C3orf52ENSG00000114529ENST00000430855p.I70Ic.210C>TSubstitution - coding silent
AIM1ENSG00000112297ENST00000369066p.N188Sc.563A>GSubstitution - Missense
BCKDHBENSG00000083123ENST00000356489p.?c.633+6T>CUnknown
ENST00000342288p.K739Rc.2216A>GSubstitution - Missense
NM_144685p.R50Gc.148C>GSubstitution - Missense
NFKBIBENSG00000104825ENST00000313582p.E71Vc.212A>TSubstitution - Missense
PPHLN1ENSG00000134283ENST00000432191p.?c.859+6C>TUnknown
PGRENSG00000082175ENST00000325455p.M924Lc.2770A>TSubstitution - Missense
POLR1BENSG00000125630ENST00000541869p.G270Sc.808G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.L1481Mc.4441C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.Y220Cc.659A>GSubstitution - Missense
METTL7AENSG00000185432ENST00000332160p.M1Ic.3G>ASubstitution - Missense
COX15ENSG00000014919ENST00000016171p.S292Cc.875C>GSubstitution - Missense
HPSE2ENSG00000172987ENST00000370552p.D355Nc.1063G>ASubstitution - Missense
PAN3ENSG00000152520ENST00000399613p.S91Sc.273C>TSubstitution - coding silent
CAPN1ENSG00000014216ENST00000279247p.?c.1864-5C>TUnknown
PSMA1ENSG00000129084ENST00000418988p.?c.562+5_566del2618Unknown
OCA2ENSG00000104044ENST00000382996p.V467Ac.1400T>CSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.?c.498+7C>AUnknown
XCL1ENSG00000143184ENST00000367818p.D85Hc.253G>CSubstitution - Missense
SLC17A6ENSG00000091664ENST00000263160p.V340Vc.1020C>ASubstitution - coding silent
ABI1ENSG00000136754ENST00000376142p.S81Sc.243T>GSubstitution - coding silent
PTCHD3ENSG00000182077ENST00000438700p.G626Vc.1877G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S586*c.1757C>GSubstitution - Nonsense
NM_006575p.E773Qc.2317G>CSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.P436Pc.1308C>GSubstitution - coding silent
PROZENSG00000126231ENST00000375547p.?c.71-9C>TUnknown
MAP2ENSG00000078018ENST00000360351p.E898Kc.2692G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.T2265Tc.6795C>TSubstitution - coding silent
CPA4ENSG00000128510ENST00000222482p.F294Fc.882C>TSubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.Q726Rc.2177A>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.H864Qc.2592C>ASubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.H864Qc.2592C>ASubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.Y689Yc.2067C>TSubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.F839Fc.2517C>TSubstitution - coding silent
TRAK1ENSG00000182606ENST00000341421p.S667Fc.2000C>TSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.Q1267Qc.3801A>GSubstitution - coding silent
MYOFENSG00000138119ENST00000359263p.I776Nc.2327T>ASubstitution - Missense
PRMT5ENSG00000100462ENST00000324366p.S439Sc.1317A>CSubstitution - coding silent
PPHLN1ENSG00000134283ENST00000395580p.R351Wc.1051C>TSubstitution - Missense
PPAPDC1AENSG00000203805ENST00000398250p.E250Ec.750G>ASubstitution - coding silent
KCNK4ENSG00000182450ENST00000422670p.L174Ic.520C>ASubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.G190Ec.569G>ASubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.E666Vc.1997A>TSubstitution - Missense
MAXENSG00000125952ENST00000358664p.F134Fc.402C>TSubstitution - coding silent
BICD2ENSG00000185963ENST00000356884p.A831Vc.2492C>TSubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.V1179Ic.3535G>ASubstitution - Missense
TANC2ENSG00000170921ENST00000389520p.T158Ac.472A>GSubstitution - Missense
ZNF440ENSG00000171295ENST00000304060p.H306Nc.916C>ASubstitution - Missense
LIASENSG00000121897ENST00000261434p.?c.393+10G>AUnknown
SLC9A4ENSG00000180251ENST00000295269p.H573fs*20c.1714delCDeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.C610Sc.1828T>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.A163Ac.489C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.?c.9964-9T>CUnknown
LRBAENSG00000198589ENST00000357115p.R1317Cc.3949C>TSubstitution - Missense
HIST1H2BOENSG00000196331ENST00000303806p.M1Lc.1A>TSubstitution - Missense
ERFENSG00000105722ENST00000222329p.V396Vc.1188A>CSubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.Y552Cc.1655A>GSubstitution - Missense
MMP9ENSG00000100985ENST00000372330p.L702Lc.2104C>TSubstitution - coding silent
CRIP3ENSG00000146215ENST00000274990p.P105Pc.315C>ASubstitution - coding silent
PPAPDC1AENSG00000203805ENST00000369073p.E240Ec.720G>ASubstitution - coding silent
CDKL4ENSG00000205111ENST00000378803p.G179Vc.536G>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.L85Lc.255G>TSubstitution - coding silent
PI4K2AENSG00000155252ENST00000555577p.V76Ic.226G>ASubstitution - Missense
RELTENSG00000054967ENST00000064780p.C32Cc.96C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1152Pc.3456C>TSubstitution - coding silent
MYRFENSG00000124920ENST00000265460p.?c.1089-6C>TUnknown
PEX14ENSG00000142655ENST00000356607p.I216Mc.648T>GSubstitution - Missense
ATP6V0A2ENSG00000185344ENST00000330342p.G82Ec.245G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
ENST00000454347p.S315Cc.943A>TSubstitution - Missense
LRRTM1ENSG00000162951ENST00000295057p.Q196Qc.588G>ASubstitution - coding silent
ZNF107ENSG00000196247ENST00000395391p.N92Sc.275A>GSubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.A163Vc.488C>TSubstitution - Missense
RABEP2ENSG00000177548ENST00000358201p.A220Sc.658G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.T2607Ac.7819A>GSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.S1109Ac.3325T>GSubstitution - Missense
TIGD4ENSG00000169989ENST00000304337p.P168Sc.502C>TSubstitution - Missense
VNN1ENSG00000112299ENST00000367928p.R55Wc.163C>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.?c.3114-7T>CUnknown
MAGEC1ENSG00000155495ENST00000285879p.S462Sc.1386C>ASubstitution - coding silent
GRIK5ENSG00000105737ENST00000262895p.P583Lc.1748C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
CRIP3ENSG00000146215ENST00000372569p.P105Pc.315C>ASubstitution - coding silent
ANO8ENSG00000074855ENST00000159087p.G693Gc.2079G>TSubstitution - coding silent
MAD2L2ENSG00000116670ENST00000376672p.?c.232-5T>CUnknown
DHRS2ENSG00000100867ENST00000250383p.S260Yc.779C>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.C610Sc.1828T>ASubstitution - Missense
LIN7CENSG00000148943ENST00000278193p.A163Tc.487G>ASubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.R461Cc.1381C>TSubstitution - Missense
GRK1ENSG00000185974ENST00000335678p.A294Tc.880G>ASubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.R440Wc.1318C>TSubstitution - Missense
CR1LENSG00000197721ENST00000294997p.?c.301+1G>CUnknown
SCAPERENSG00000140386ENST00000324767p.?c.2954+10G>AUnknown
DNAJA4ENSG00000140403ENST00000446172p.C170Sc.508T>ASubstitution - Missense
SOCS2ENSG00000120833ENST00000340600p.P92Tc.274C>ASubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.?c.1672-9A>CUnknown
UTS2ENSG00000049247ENST00000054668p.R16Rc.48G>ASubstitution - coding silent
PLEKHJ1ENSG00000104886ENST00000326631p.R112Wc.334C>TSubstitution - Missense
MANFENSG00000145050ENST00000528157p.T129Ic.386C>TSubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.A204Vc.611C>TSubstitution - Missense
C1orf110ENSG00000185860ENST00000367910p.K69Rc.206A>GSubstitution - Missense
PDZRN4ENSG00000165966ENST00000539469p.R328Gc.982A>GSubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.G1402Cc.4204G>TSubstitution - Missense
NLRX1ENSG00000160703ENST00000409265p.S56Sc.168G>TSubstitution - coding silent
TPRENSG00000047410ENST00000367478p.E1247Dc.3741G>TSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.L1859Lc.5577A>GSubstitution - coding silent
PARP4ENSG00000102699ENST00000381989p.A1381Vc.4142C>TSubstitution - Missense
ITGA3ENSG00000005884ENST00000007722p.N507Tc.1520A>CSubstitution - Missense
XAB2ENSG00000076924ENST00000358368p.R838Wc.2512C>TSubstitution - Missense
ITCHENSG00000078747ENST00000374864p.L633Lc.1899C>GSubstitution - coding silent
CCDC178ENSG00000166960ENST00000383096p.E726Ec.2178G>ASubstitution - coding silent
KLHL5ENSG00000109790ENST00000504108p.E381_A386>TVLTPc.1141_1156>13Complex - deletion inframe
FAM212AENSG00000185614ENST00000333323p.R217Cc.649C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1678Tc.5032G>ASubstitution - Missense
NEFHENSG00000100285ENST00000310624p.E508Qc.1522G>CSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.D117Hc.349G>CSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.S534Sc.1602T>CSubstitution - coding silent
CCL26ENSG00000006606ENST00000394905p.P43Pc.129C>ASubstitution - coding silent
ZNF662ENSG00000182983ENST00000440367p.C194Yc.581G>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.D523Yc.1567G>TSubstitution - Missense
RINT1ENSG00000135249ENST00000257700p.H729Hc.2187T>CSubstitution - coding silent
KELENSG00000197993ENST00000355265p.R14Hc.41G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.G3338Ac.10013G>CSubstitution - Missense
NOL10ENSG00000115761ENST00000345985p.S220Gc.658A>GSubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.Y475Yc.1425C>TSubstitution - coding silent
DIAPH3ENSG00000139734ENST00000400324p.V339Lc.1015G>TSubstitution - Missense
SU_OBSCN.1p.R4475Wc.13423C>TSubstitution - Missense
KRT6AENSG00000205420ENST00000330722p.L306Mc.916C>ASubstitution - Missense
OCA2ENSG00000104044ENST00000354638p.V467Ac.1400T>CSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R2608Cc.7822C>TSubstitution - Missense
NOMO1ENSG00000103512ENST00000287667p.E794Kc.2380G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.R746Rc.2238G>ASubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000307138p.I190Vc.568A>GSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000389698p.I190Vc.568A>GSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.D56Ec.168T>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L12912Lc.38736C>GSubstitution - coding silent
ELP3ENSG00000134014ENST00000256398p.A505Tc.1513G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.V1179Ic.3535G>ASubstitution - Missense
GSDMDENSG00000104518ENST00000262580p.I90Vc.268A>GSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.S534Sc.1602T>CSubstitution - coding silent
ADRB3ENSG00000188778ENST00000345060p.A403Pc.1207G>CSubstitution - Missense
KLHL40ENSG00000157119ENST00000287777p.V482Vc.1446C>GSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.E3258fs*33c.9772delGDeletion - Frameshift
SIDT1ENSG00000072858ENST00000264852p.F700Lc.2098T>CSubstitution - Missense
ZNF43ENSG00000198521ENST00000354959p.N807Dc.2419A>GSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.A229Vc.686C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.G184Vc.551G>TSubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.R208Qc.623G>ASubstitution - Missense
KCNG3ENSG00000171126ENST00000306078p.I73Fc.217A>TSubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.Q300Rc.899A>GSubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.?c.957+7C>TUnknown
KIAA1009ENSG00000135315ENST00000403245p.D255Yc.763G>TSubstitution - Missense
PRXENSG00000105227ENST00000324001p.R542Qc.1625G>ASubstitution - Missense
NM_002847.2p.S622Tc.1864T>ASubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.D1722Gc.5165A>GSubstitution - Missense
SNAP47ENSG00000143740ENST00000315781p.K103Rc.308A>GSubstitution - Missense
C19orf55ENSG00000167595ENST00000535581p.Q288Rc.863A>GSubstitution - Missense
C20orf26ENSG00000089101ENST00000377306p.E328Dc.984A>TSubstitution - Missense
HFEENSG00000010704ENST00000470149p.Y228delYc.677_679delACTDeletion - In frame
COL4A5ENSG00000188153ENST00000328300p.N1534Nc.4602C>TSubstitution - coding silent
FAM120BENSG00000112584ENST00000537664p.Q446Qc.1338A>GSubstitution - coding silent
XRCC4ENSG00000152422ENST00000338635p.E295*c.883G>TSubstitution - Nonsense
GPR180ENSG00000152749ENST00000376958p.L151Lc.453A>GSubstitution - coding silent
TEX33ENSG00000185264ENST00000402860p.F87Fc.261C>TSubstitution - coding silent
TOPAZ1ENSG00000173769ENST00000309765p.S559Yc.1676C>ASubstitution - Missense
FCN1ENSG00000085265ENST00000371806p.H194Nc.580C>ASubstitution - Missense
SU_CDKL4p.G179Vc.536G>TSubstitution - Missense
STAT3ENSG00000168610ENST00000264657p.P689Pc.2067A>GSubstitution - coding silent
DCHS2ENSG00000197410ENST00000443500p.Q96Kc.286C>ASubstitution - Missense
ZNF540ENSG00000171817ENST00000316433p.I404Tc.1211T>CSubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.R1907Hc.5720G>ASubstitution - Missense
ENST00000316490p.Y2221Yc.6663C>TSubstitution - coding silent
ENST00000359961p.S641Tc.1922G>CSubstitution - Missense
MYOFENSG00000138119ENST00000371501p.I776Nc.2327T>ASubstitution - Missense
DYDC1ENSG00000170788ENST00000421924p.V21Vc.63G>ASubstitution - coding silent
RNF139ENSG00000170881ENST00000303545p.L126Pc.377T>CSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.I1353Lc.4057A>CSubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.A894Ac.2682G>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.S191Sc.573G>ASubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.E2767Dc.8301G>TSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.R772Wc.2314C>TSubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.P579Lc.1736C>TSubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.?c.170-10G>TUnknown
EPN3ENSG00000049283ENST00000268933p.?c.1250-4C>AUnknown
ABCA7ENSG00000064687ENST00000263094p.G1202fs*15c.3603delGDeletion - Frameshift
CPNE2ENSG00000140848ENST00000290776p.R195Sc.585G>TSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.G304Dc.911G>ASubstitution - Missense
SLC45A2ENSG00000164175ENST00000296589p.V144fs*11c.429_430insAAGTInsertion - Frameshift
MUC17ENSG00000169876ENST00000306151p.A1786Gc.5357C>GSubstitution - Missense
FTLENSG00000087086ENST00000331825p.?c.102_103-2del160Unknown
TEX33ENSG00000185264ENST00000405091p.F172Fc.516C>TSubstitution - coding silent
RAPGEF1ENSG00000107263ENST00000372190p.G465Rc.1393G>CSubstitution - Missense
SEC62ENSG00000008952ENST00000337002p.?c.37-4G>AUnknown
LRRC34ENSG00000171757ENST00000316515p.N165Sc.494A>GSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.G967Vc.2900G>TSubstitution - Missense
ENST00000376710p.P130Pc.390G>ASubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.?c.3114-7T>CUnknown
DDX19AENSG00000168872ENST00000302243p.L270Lc.810G>TSubstitution - coding silent
CPED1ENSG00000106034ENST00000310396p.R247Cc.739C>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.?c.23835+7_23928+10>CTTAGUnknown
STAP1ENSG00000035720ENST00000396225p.Y65Hc.193T>CSubstitution - Missense
MYRFENSG00000124920ENST00000278836p.?c.1116-6C>TUnknown
KCNT1ENSG00000107147ENST00000263604p.P1222Pc.3666C>TSubstitution - coding silent
MRS2ENSG00000124532ENST00000443868p.H334Hc.1002C>TSubstitution - coding silent
DUPD1ENSG00000188716ENST00000338487p.Q210Rc.629A>GSubstitution - Missense
OS9ENSG00000135506ENST00000315970p.C181Cc.543C>TSubstitution - coding silent
PPHLN1ENSG00000134283ENST00000395568p.?c.1024+6C>TUnknown
SZT2ENSG00000198198ENST00000372450p.?c.492+7C>AUnknown
EGFLAMENSG00000164318ENST00000322350p.L268Lc.804A>GSubstitution - coding silent
LILRA1ENSG00000104974ENST00000251372p.R370Sc.1110A>TSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.R732Gc.2194A>GSubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.A321Vc.962C>TSubstitution - Missense
PES1ENSG00000100029ENST00000354694p.D573Gc.1718A>GSubstitution - Missense
RFPL4AENSG00000223638ENST00000434937p.Q7*c.19C>TSubstitution - Nonsense
ZNF142ENSG00000115568ENST00000411696p.R1125Qc.3374G>ASubstitution - Missense
PNPT1ENSG00000138035ENST00000447944p.?c.2342_2352del11Unknown
ROS1ENSG00000047936ENST00000368507p.S1104Ac.3310T>GSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.S559Yc.1676C>ASubstitution - Missense
ENSG00000272514ENST00000369562p.K475Rc.1424A>GSubstitution - Missense
FIGNENSG00000182263ENST00000333129p.S65Yc.194C>ASubstitution - Missense
NELL2ENSG00000184613ENST00000395487p.V508Fc.1522G>TSubstitution - Missense
OR4C6ENSG00000181903ENST00000314259p.L67Fc.201G>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.I190Vc.568A>GSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.S1388_E1390>Nc.4163_4170GTTACGAG>ACComplex - deletion inframe
DYDC1ENSG00000170788ENST00000372202p.V21Vc.63G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.P2668Lc.8003C>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.T343Tc.1029C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000371502p.I776Nc.2327T>ASubstitution - Missense
OR4C6ENSG00000181903ENST00000314259p.S73Tc.217T>ASubstitution - Missense
ATL3ENSG00000184743ENST00000332645p.F258Ic.772T>ASubstitution - Missense
GIT2ENSG00000139436ENST00000343646p.D492Ec.1476T>ASubstitution - Missense
TMEM52BENSG00000165685ENST00000381923p.C84Sc.251G>CSubstitution - Missense
PDZRN4ENSG00000165966ENST00000298919p.R326Gc.976A>GSubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.?c.2145+10G>CUnknown
ENST00000458043_v65p.D328Nc.982G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000442173p.L85Lc.255G>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.V3087Ic.9259G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373388p.?c.1008-6G>AUnknown
RPA2ENSG00000117748ENST00000373909p.V85Vc.255G>CSubstitution - coding silent
EYA3ENSG00000158161ENST00000373863p.?c.1503+5C>GUnknown
DHRS2ENSG00000100867ENST00000344777p.L264Ic.790C>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000360295p.L811Pc.2432T>CSubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.L811Pc.2432T>CSubstitution - Missense
EPN3ENSG00000049283ENST00000537145p.?c.1334-4C>AUnknown
GTPBP3ENSG00000130299ENST00000361619p.V72Vc.216G>TSubstitution - coding silent
CYP2A7ENSG00000198077ENST00000291764p.S352Sc.1056C>TSubstitution - coding silent
ENST00000204005_v70p.T750Tc.2250T>CSubstitution - coding silent
CECR2ENSG00000099954ENST00000342247p.L95Vc.283C>GSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000409087p.G245Rc.733G>CSubstitution - Missense
DTNBENSG00000138101ENST00000288642p.S294Cc.881C>GSubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.D651Ec.1953T>ASubstitution - Missense
IL17RDENSG00000144730ENST00000427856p.L208Hc.623T>ASubstitution - Missense
ENST00000396394_v70p.?c.544+5_548del2618Unknown
DNAH8ENSG00000124721ENST00000449981p.E3475fs*33c.10423delGDeletion - Frameshift
KLHL5ENSG00000109790ENST00000359687p.E381_A386>TVLTPc.1141_1156>13Complex - deletion inframe
KLHL5ENSG00000109790ENST00000381930p.E381_A386>TVLTPc.1141_1156>13Complex - deletion inframe
RPL6ENSG00000089009ENST00000424576p.T278Mc.833C>TSubstitution - Missense
TRDNENSG00000186439ENST00000542443p.G29*c.85G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000448038p.L1422Mc.4264C>ASubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.A163Ac.489C>TSubstitution - coding silent
EPHA7ENSG00000135333ENST00000369303p.A863Ac.2589T>ASubstitution - coding silent
CPED1ENSG00000106034ENST00000450913p.R247Cc.739C>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.P146Pc.438C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000302728p.Y1465Yc.4395T>CSubstitution - coding silent
RAPGEF1ENSG00000107263ENST00000372195p.G464Rc.1390G>CSubstitution - Missense
RNF38ENSG00000137075ENST00000377877p.?c.1258-9G>TUnknown
TP53BP2ENSG00000143514ENST00000391878p.R332Cc.994C>TSubstitution - Missense
ENST00000545858p.Y127Cc.380A>GSubstitution - Missense
VSTM4ENSG00000165633ENST00000332853p.R208Qc.623G>ASubstitution - Missense
NM_053025p.E1066Vc.3197A>TSubstitution - Missense
GIT2ENSG00000139436ENST00000355312p.D602Ec.1806T>ASubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.K117Nc.351G>CSubstitution - Missense
ENST00000330762p.T280Ac.838A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.D2037Ec.6111C>GSubstitution - Missense
MS4A14ENSG00000166928ENST00000300187p.Q451Rc.1352A>GSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.L3495Lc.10483C>TSubstitution - coding silent
SERINC4ENSG00000184716ENST00000319327p.M258fs*45c.772_773insCTInsertion - Frameshift
CYB5RLENSG00000215883ENST00000419823p.V216Fc.646G>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.P449Pc.1347C>GSubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.Q804*c.2410C>TSubstitution - Nonsense
ITGA3ENSG00000005884ENST00000320031p.N507Tc.1520A>CSubstitution - Missense
KLHL14ENSG00000197705ENST00000359358p.Y397Cc.1190A>GSubstitution - Missense
HFEENSG00000010704ENST00000357618p.Y231delYc.686_688delACTDeletion - In frame
NEFHENSG00000100285ENST00000310624p.A626Gc.1877C>GSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.M157Kc.470T>ASubstitution - Missense
ENST00000333535_v68p.G862Gc.2586C>GSubstitution - coding silent
SLC16A5ENSG00000170190ENST00000450736p.A337Ac.1011G>ASubstitution - coding silent
WDR54ENSG00000005448ENST00000348227p.P214Lc.641C>TSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.I195Ic.585T>ASubstitution - coding silent
KCTD19ENSG00000168676ENST00000304372p.L521Lc.1563G>ASubstitution - coding silent
TRMUENSG00000100416ENST00000290846p.L386Lc.1158G>ASubstitution - coding silent
SYKENSG00000165025ENST00000375751p.K133Ec.397A>GSubstitution - Missense
DAPK3ENSG00000167657ENST00000301264p.I188Ic.564T>CSubstitution - coding silent
LTBP4ENSG00000090006ENST00000308370p.T787Tc.2361T>CSubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.S40fs*36c.119delCDeletion - Frameshift
ADCK4ENSG00000123815ENST00000324464p.S40fs*36c.119delCDeletion - Frameshift
CYP2A7ENSG00000198077ENST00000301146p.S403Sc.1209C>TSubstitution - coding silent
CEACAM5ENSG00000105388ENST00000221992p.R17Rc.51G>ASubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.L667Lc.1999C>TSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.T221Tc.663T>GSubstitution - coding silent
FAM13BENSG00000031003ENST00000033079p.T280Tc.840G>ASubstitution - coding silent
FAM13BENSG00000031003ENST00000425075p.T162Tc.486G>ASubstitution - coding silent
NDST1ENSG00000070614ENST00000261797p.P83Pc.249G>TSubstitution - coding silent
MARCH11ENSG00000183654ENST00000332432p.T400Tc.1200T>ASubstitution - coding silent
LHFPL3ENSG00000187416ENST00000543266p.?c.683-7C>AUnknown
DOCK4ENSG00000128512ENST00000437633p.K751Rc.2252A>GSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.P163Lc.488C>TSubstitution - Missense
ACTR3CENSG00000106526ENST00000252071p.G36Vc.107G>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.L3234Fc.9700C>TSubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.I17Vc.49A>GSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.Y3822Yc.11466T>CSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.Y3797Yc.11391T>CSubstitution - coding silent
NUDCD1ENSG00000120526ENST00000239690p.R565Ic.1694G>TSubstitution - Missense
FUKENSG00000157353ENST00000378912p.A265Ac.795C>TSubstitution - coding silent
DDX19AENSG00000168872ENST00000302243p.L270Lc.810G>TSubstitution - coding silent
TERF2ENSG00000132604ENST00000254942p.T287Tc.861T>CSubstitution - coding silent
CHTF8ENSG00000168802ENST00000306585p.T133Ic.398C>TSubstitution - Missense
ENST00000316490_v65p.Y2269Yc.6807C>TSubstitution - coding silent
ENST00000316490_v65p.N1481Kc.4443T>ASubstitution - Missense
ENST00000316490p.N1433Kc.4299T>ASubstitution - Missense
AQP8ENSG00000103375ENST00000219660p.I249Tc.746T>CSubstitution - Missense
GTPBP3ENSG00000130299ENST00000358792p.V50Vc.150G>TSubstitution - coding silent
TMEM145ENSG00000167619ENST00000301204p.?c.1074-7C>TUnknown
SEMG1ENSG00000124233ENST00000372781p.E354Vc.1061A>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.?c.23835+7_23928+10>CTTAGUnknown
ORC4ENSG00000115947ENST00000264169p.V90Mc.268G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.?c.593-8T>CUnknown
NEBENSG00000183091ENST00000427231p.T1273Ic.3818C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.T1273Ic.3818C>TSubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.L247Ic.739C>ASubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.R1134Rc.3402C>TSubstitution - coding silent
MFSD7ENSG00000169026ENST00000322224p.R529Cc.1585C>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.M261Ic.783G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000405010p.M258Ic.774G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.M261Ic.783G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.Y5Yc.15C>TSubstitution - coding silent
FAM91A1ENSG00000176853ENST00000334705p.R512Lc.1535G>TSubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.R752Rc.2256G>ASubstitution - coding silent
DENND3ENSG00000105339ENST00000262585p.P753Tc.2257C>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.R448Lc.1343G>TSubstitution - Missense
PSMD2ENSG00000175166ENST00000310118p.Y71Cc.212A>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.V1337Mc.4009G>ASubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.T427Tc.1281A>GSubstitution - coding silent
RANBP17ENSG00000204764ENST00000523189p.S395Sc.1185A>CSubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.V224Vc.672G>ASubstitution - coding silent
IP6K3ENSG00000161896ENST00000451316p.P301Rc.902C>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.I917Lc.2749A>CSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.I917Lc.2749A>CSubstitution - Missense
CAPN11ENSG00000137225ENST00000398776p.K562*c.1684A>TSubstitution - Nonsense
SSUH2ENSG00000125046ENST00000544814p.R268Qc.803G>ASubstitution - Missense
ENST00000455773p.E121Dc.363G>CSubstitution - Missense
SFR1ENSG00000156384ENST00000336358p.V238Vc.714C>GSubstitution - coding silent
KNDC1ENSG00000171798ENST00000368572p.D493Dc.1479C>TSubstitution - coding silent
ZNF33AENSG00000189180ENST00000432900p.G425Rc.1273G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.S1720Fc.5159C>TSubstitution - Missense
MAPK11ENSG00000185386ENST00000449719p.L185Rc.554T>GSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.V774Mc.2320G>ASubstitution - Missense
ENST00000328199_v68p.C220Yc.659G>ASubstitution - Missense
TGM4ENSG00000163810ENST00000296125p.?c.1777-10C>GUnknown
PTPN23ENSG00000076201ENST00000265562p.L1191_D1192insLc.3572_3573insTCTInsertion - In frame
ALS2CLENSG00000178038ENST00000318962p.H898Yc.2692C>TSubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.Q653Qc.1959A>GSubstitution - coding silent
SV2CENSG00000122012ENST00000502798p.L591Lc.1771T>CSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.A163Ac.489C>TSubstitution - coding silent
NM_001371.1p.E3258fs*33c.9772delGDeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.G3195Ac.9584G>CSubstitution - Missense
ENST00000222857p.S152Sc.456C>GSubstitution - coding silent
IFNA1ENSG00000197919ENST00000276927p.H81Qc.243T>ASubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.Q1015Qc.3045G>ASubstitution - coding silent
ENST00000380689p.Q282Qc.846G>ASubstitution - coding silent
WNK3ENSG00000196632ENST00000354646p.P1589fs*15c.4764delADeletion - Frameshift
XM_293293.1p.P377Pc.1131C>ASubstitution - coding silent
TAF1ENSG00000147133ENST00000449580p.G1706Ec.5117G>ASubstitution - Missense
FTLENSG00000087086ENST00000331825p.?c.375+1_376-1del176Unknown
ZKSCAN2ENSG00000155592ENST00000328086p.A454Sc.1360G>TSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.?c.137+10A>GUnknown
TAOK2ENSG00000149930ENST00000308893p.S1093Sc.3279A>GSubstitution - coding silent
FBRSENSG00000156860ENST00000356166p.A228Ac.684G>ASubstitution - coding silent
POTEFENSG00000196604ENST00000409914p.Q668Qc.2004G>ASubstitution - coding silent
UGGT1ENSG00000136731ENST00000259253p.A1158Tc.3472G>ASubstitution - Missense
C3orf52ENSG00000114529ENST00000264848p.I70Ic.210C>TSubstitution - coding silent
TIMMDC1ENSG00000113845ENST00000494664p.?c.517+9T>GUnknown
NEK11ENSG00000114670ENST00000429253p.V164Ic.490G>ASubstitution - Missense
GRK7ENSG00000114124ENST00000264952p.G525Ac.1574G>CSubstitution - Missense
POU4F2ENSG00000151615ENST00000281321p.K25Mc.74A>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.Q96Kc.286C>ASubstitution - Missense
CCKARENSG00000163394ENST00000295589p.V311Vc.933G>ASubstitution - coding silent
XRCC4ENSG00000152422ENST00000282268p.E295*c.883G>TSubstitution - Nonsense
PCSK1ENSG00000175426ENST00000311106p.S307Lc.920C>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.A391Vc.1172C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.E881Vc.2642A>TSubstitution - Missense
PREPENSG00000085377ENST00000369110p.L100Lc.300A>GSubstitution - coding silent
KIAA1586ENSG00000168116ENST00000370733p.I115Vc.343A>GSubstitution - Missense
EYSENSG00000188107ENST00000370621p.?c.6726-2138_6793>TAUnknown
SVEP1ENSG00000165124ENST00000401783p.Y1465Yc.4395T>CSubstitution - coding silent
TRDNENSG00000186439ENST00000398178p.G29*c.85G>TSubstitution - Nonsense
MCM9ENSG00000111877ENST00000316316p.S663Fc.1988C>TSubstitution - Missense
TAAR6ENSG00000146383ENST00000275198p.S164Sc.492C>TSubstitution - coding silent
ENST00000237177p.K1245Nc.3735G>TSubstitution - Missense
SHPKENSG00000197417ENST00000225519p.T151fs*12c.450delCDeletion - Frameshift
VPS53ENSG00000141252ENST00000437048p.Q716Kc.2146C>ASubstitution - Missense
TOM1L1ENSG00000141198ENST00000575882p.M224Tc.671T>CSubstitution - Missense
RBM42ENSG00000126254ENST00000262633p.G478Cc.1432G>TSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.A1217Ac.3651C>TSubstitution - coding silent
ZNF585BENSG00000245680ENST00000532828p.G136Gc.408A>CSubstitution - coding silent
PLCL2ENSG00000154822ENST00000396755p.V837Lc.2509G>TSubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.?c.1204-5A>GUnknown
PCDHGA5ENSG00000253485ENST00000518069p.D373Dc.1119T>CSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.D373Dc.1119T>CSubstitution - coding silent
PCDHGB1ENSG00000254221ENST00000523390p.A627Vc.1880C>TSubstitution - Missense
TCERG1ENSG00000113649ENST00000296702p.S311Sc.933A>GSubstitution - coding silent
AFAP1L1ENSG00000157510ENST00000296721p.G471Sc.1411G>ASubstitution - Missense
KCNT1ENSG00000107147ENST00000298480p.P1248Pc.3744C>TSubstitution - coding silent
FCN2ENSG00000160339ENST00000291744p.A205Gc.614C>GSubstitution - Missense
CARD9ENSG00000187796ENST00000371732p.I355Vc.1063A>GSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.P130Pc.390G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000360280p.R208Qc.623G>ASubstitution - Missense
SYKENSG00000165025ENST00000375754p.K133Ec.397A>GSubstitution - Missense
ZNF175ENSG00000105497ENST00000262259p.R53Qc.158G>ASubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.N592Kc.1776C>GSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.M157Kc.470T>ASubstitution - Missense
ZNF525ENSG00000203326ENST00000474037p.Q178Qc.534A>GSubstitution - coding silent
DIDO1ENSG00000101191ENST00000395343p.S1019Cc.3056C>GSubstitution - Missense
LILRA3ENSG00000170866ENST00000251390p.D112fs*7c.335delADeletion - Frameshift
HELZ2ENSG00000130589ENST00000467148p.I749Ic.2247T>CSubstitution - coding silent
ENST00000358393p.R47Qc.140G>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.D99Hc.295G>CSubstitution - Missense
NIPSNAP1ENSG00000184117ENST00000216121p.?c.272+7A>CUnknown
ALKENSG00000171094ENST00000389048p.S277Sc.831C>TSubstitution - coding silent
ENST00000405167p.A1678Tc.5032G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1935Ac.5803A>GSubstitution - Missense
ENST00000405167p.T1935Ac.5803A>GSubstitution - Missense
ENST00000405167p.T931Tc.2793C>ASubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.T335Ic.1004C>TSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.T335Ic.1004C>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.S318Nc.953G>ASubstitution - Missense
LRCH3ENSG00000186001ENST00000425562p.S318Nc.953G>ASubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.S404Lc.1211C>TSubstitution - Missense
ANTXR2ENSG00000163297ENST00000403729p.R427Rc.1281G>ASubstitution - coding silent
CCSER1ENSG00000184305ENST00000432775p.S534Sc.1602T>CSubstitution - coding silent
UNC5DENSG00000156687ENST00000404895p.R777fs*49c.2327delCDeletion - Frameshift
UNC5DENSG00000156687ENST00000287272p.R772fs*49c.2312delCDeletion - Frameshift
C8orf4ENSG00000176907ENST00000315792p.S15Sc.45G>ASubstitution - coding silent
ADAM18ENSG00000168619ENST00000265707p.T628Ic.1883C>TSubstitution - Missense
ENST00000354247p.S245Gc.733A>GSubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.P1970Pc.5910T>ASubstitution - coding silent
ZNF524ENSG00000171443ENST00000301073p.R35Lc.104G>TSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.S691fs*2c.2068_2069insGTAGInsertion - Frameshift
REV1ENSG00000135945ENST00000258428p.?c.2812-3T>CUnknown
NOL10ENSG00000115761ENST00000381685p.S220Gc.658A>GSubstitution - Missense
ENST00000333535_v68p.A226Vc.677C>TSubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.A226Vc.677C>TSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.G862Gc.2586C>GSubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.G862Gc.2586C>GSubstitution - coding silent
XYLBENSG00000093217ENST00000207870p.V69Vc.207C>TSubstitution - coding silent
ZNF705AENSG00000196946ENST00000402465p.G339Ec.1016G>ASubstitution - Missense
ZNF619ENSG00000177873ENST00000447116p.Y412Fc.1235A>TSubstitution - Missense
ZNF619ENSG00000177873ENST00000314686p.Y356Fc.1067A>TSubstitution - Missense
MYRIPENSG00000170011ENST00000302541p.W474Lc.1421G>TSubstitution - Missense
ENTPD3ENSG00000168032ENST00000301825p.D241Nc.721G>ASubstitution - Missense
FERENSG00000151422ENST00000281092p.R707Lc.2120G>TSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.I195Ic.585T>ASubstitution - coding silent
TRAM1L1ENSG00000174599ENST00000310754p.K5fs*91c.13_38del26Deletion - Frameshift
SEC24DENSG00000150961ENST00000280551p.L809Vc.2425C>GSubstitution - Missense
C4orf29ENSG00000164074ENST00000398965p.S315Cc.943A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L1415Mc.4243C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L1415Mc.4243C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.L1422Mc.4264C>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.M823Ic.2469G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.M378Ic.1134G>ASubstitution - Missense
IQCEENSG00000106012ENST00000402050p.T238Tc.714C>TSubstitution - coding silent
PORENSG00000127948ENST00000450476p.R4Rc.12G>ASubstitution - coding silent
HEATR2ENSG00000164818ENST00000297440p.R465*c.1393C>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.C610Sc.1828T>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.C556Sc.1666T>ASubstitution - Missense
APOOENSG00000184831ENST00000379226p.Y74Hc.220T>CSubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.S778Nc.2333G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.S771Nc.2312G>ASubstitution - Missense
TMEM87BENSG00000153214ENST00000283206p.?c.1578-3C>TUnknown
ENST00000396788p.R962Qc.2885G>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.P1683Pc.5049T>CSubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.V1113Lc.3337G>CSubstitution - Missense
UHRF2ENSG00000147854ENST00000276893p.?c.1909-7C>TUnknown
TMEM2ENSG00000135048ENST00000377044p.P768Qc.2303C>ASubstitution - Missense
C3orf67ENSG00000163689ENST00000482387p.S527Sc.1581G>ASubstitution - coding silent
SLMAPENSG00000163681ENST00000295951p.R714Qc.2141G>ASubstitution - Missense
IL17RDENSG00000144730ENST00000296318p.L232Hc.695T>ASubstitution - Missense
IL17RDENSG00000144730ENST00000320057p.L88Hc.263T>ASubstitution - Missense
MITFENSG00000187098ENST00000314589p.Y18Cc.53A>GSubstitution - Missense
NM_032682.3p.?c.1348+3A>TUnknown
TMOD1ENSG00000136842ENST00000259365p.L187Qc.560T>ASubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.R336Hc.1007G>ASubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.R336Hc.1007G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.S3794Sc.11382C>TSubstitution - coding silent
FASNENSG00000169710ENST00000306749p.I520Ic.1560C>TSubstitution - coding silent
EMILIN2ENSG00000132205ENST00000254528p.P166Sc.496C>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000300227p.E688Ec.2064G>ASubstitution - coding silent
RAD23AENSG00000179262ENST00000316856p.S100Ac.298T>GSubstitution - Missense
TMEM150AENSG00000168890ENST00000334462p.G223Gc.669C>TSubstitution - coding silent
COL6A2ENSG00000142173ENST00000300527p.G991Dc.2972G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
GRM7ENSG00000196277ENST00000389335p.D651Ec.1953T>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.R181Qc.542G>ASubstitution - Missense
SSUH2ENSG00000125046ENST00000341795p.R246Qc.737G>ASubstitution - Missense
CYLDENSG00000083799ENST00000311559p.T822Nc.2465C>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.G475Rc.1423G>CSubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.I329Nc.986T>ASubstitution - Missense
KRTAP4-16PENSG00000241241ENST00000440582p.P171fs*30c.506_507insTTCCCInsertion - Frameshift
KRT33AENSG00000006059ENST00000007735p.K184Mc.551A>TSubstitution - Missense
RNF123ENSG00000164068ENST00000327697p.M862Ic.2586G>TSubstitution - Missense
RAD54L2ENSG00000164080ENST00000409535p.S1365Ic.4094G>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.T1757Tc.5271C>GSubstitution - coding silent
FAM120BENSG00000112584ENST00000476287p.Q423Qc.1269A>GSubstitution - coding silent
HDGFL1ENSG00000112273ENST00000230012p.L79Lc.237G>ASubstitution - coding silent
MRS2ENSG00000124532ENST00000378386p.H331Hc.993C>TSubstitution - coding silent
CALD1ENSG00000122786ENST00000361675p.R484Lc.1451G>TSubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.R249Lc.746G>TSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.D951Ac.2852A>CSubstitution - Missense
PDGFRLENSG00000104213ENST00000251630p.A250Ac.750C>TSubstitution - coding silent
ENST00000360191p.P159Pc.477G>ASubstitution - coding silent
IMPA1ENSG00000133731ENST00000449740p.E221Ec.663G>ASubstitution - coding silent
ENST00000262719_v68p.V1389fs*33c.4162_4175del14Deletion - Frameshift
NLRP7ENSG00000167634ENST00000328092p.L114Lc.342A>GSubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.L114Lc.342A>GSubstitution - coding silent
NINLENSG00000101004ENST00000278886p.L245Vc.733C>GSubstitution - Missense
ACSS1ENSG00000154930ENST00000537502p.S56Sc.168T>GSubstitution - coding silent
ENSG00000088899ENST00000329152p.G644Rc.1930G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.L115Vc.343C>GSubstitution - Missense
TRMT2AENSG00000099899ENST00000252136p.A417Ac.1251C>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000404751p.A417Ac.1251C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.A21043Ac.63129G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A14671Ac.44013G>ASubstitution - coding silent
ENST00000356127p.A21041Ac.63123G>ASubstitution - coding silent
BOLLENSG00000152430ENST00000321801p.N57Nc.171C>TSubstitution - coding silent
BOLLENSG00000152430ENST00000392296p.N45Nc.135C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.A320Vc.959C>TSubstitution - Missense
CADENSG00000084774ENST00000264705p.?c.957_1255-21del1015Unknown
NXPE3ENSG00000144815ENST00000273347p.V375Ac.1124T>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.Y689Yc.2067C>TSubstitution - coding silent
IMPG2ENSG00000081148ENST00000193391p.S804Ic.2411G>TSubstitution - Missense
BBXENSG00000114439ENST00000325805p.S178Sc.534A>GSubstitution - coding silent
BBXENSG00000114439ENST00000415149p.S178Sc.534A>GSubstitution - coding silent
VASNENSG00000168140ENST00000304735p.Q87Rc.260A>GSubstitution - Missense
TMEM8AENSG00000129925ENST00000431232p.Q311Hc.933G>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.P1144Lc.3431C>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.L529Qc.1586T>ASubstitution - Missense
NM_006341.2p.?c.232-5T>CUnknown
TAS1R3ENSG00000169962ENST00000339381p.M110Tc.329T>CSubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.P333Pc.999G>CSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.M1336Lc.4006A>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.G645Gc.1935T>GSubstitution - coding silent
LRRK1ENSG00000154237ENST00000284395p.G642Gc.1926T>GSubstitution - coding silent
SU_LRRK1p.S796Yc.2387C>ASubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.S781Yc.2342C>ASubstitution - Missense
ENST00000266524p.M178Ic.534G>CSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.P1159Sc.3475C>TSubstitution - Missense
ETNK2ENSG00000143845ENST00000367202p.A381Vc.1142C>TSubstitution - Missense
MYOGENSG00000122180ENST00000241651p.C73Fc.218G>TSubstitution - Missense
RFX7ENSG00000181827ENST00000423270p.R657Rc.1971A>GSubstitution - coding silent
TCTN2ENSG00000168778ENST00000303372p.V298Mc.892G>ASubstitution - Missense
RPA2ENSG00000117748ENST00000373912p.V77Vc.231G>CSubstitution - coding silent
RPA2ENSG00000117748ENST00000313433p.V165Vc.495G>CSubstitution - coding silent
EYA3ENSG00000158161ENST00000373871p.?c.1641+5C>GUnknown
TAS1R1ENSG00000173662ENST00000333172p.R555Cc.1663C>TSubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.F378Yc.1133T>ASubstitution - Missense
DEPDC1ENSG00000024526ENST00000456315p.T718Tc.2154T>GSubstitution - coding silent
DEPDC1ENSG00000024526ENST00000370966p.T434Tc.1302T>GSubstitution - coding silent
WDHD1ENSG00000198554ENST00000360586p.N999Sc.2996A>GSubstitution - Missense
KIAA0586ENSG00000100578ENST00000261244p.P45Lc.134C>TSubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.P57Lc.170C>TSubstitution - Missense
PELI2ENSG00000139946ENST00000267460p.S312Tc.935G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.L3297Lc.9891T>ASubstitution - coding silent
ZWILCHENSG00000174442ENST00000307897p.N570Nc.1710C>TSubstitution - coding silent
LCTLENSG00000188501ENST00000341509p.K460Kc.1380G>ASubstitution - coding silent
ZMYM5ENSG00000132950ENST00000382905p.H278Rc.833A>GSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.E738Kc.2212G>ASubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.E666Kc.1996G>ASubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.S380Sc.1140C>TSubstitution - coding silent
NT5C1BENSG00000185013ENST00000359846p.R526Qc.1577G>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.E1658Vc.4973A>TSubstitution - Missense
MCM4ENSG00000104738ENST00000523944p.K269Nc.807G>CSubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.R355Sc.1065A>CSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.F294Sc.881T>CSubstitution - Missense
NKRFENSG00000186416ENST00000542113p.T390Rc.1169C>GSubstitution - Missense
NKRFENSG00000186416ENST00000371527p.T375Rc.1124C>GSubstitution - Missense
DCXENSG00000077279ENST00000356915p.I218Nc.653T>ASubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.D82Ec.246T>GSubstitution - Missense
ENST00000215591p.S1176Sc.3528C>TSubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.S1191Sc.3573C>TSubstitution - coding silent
INSRENSG00000171105ENST00000302850p.T858Ac.2572A>GSubstitution - Missense
INSRENSG00000171105ENST00000302850p.T858Ac.2572A>GSubstitution - Missense
ENST00000380947p.L64Lc.192C>GSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.N1528Nc.4584C>TSubstitution - coding silent
SCARF1ENSG00000074660ENST00000263071p.A425Tc.1273G>ASubstitution - Missense
FLIIENSG00000177731ENST00000327031p.P724Pc.2172G>ASubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.I1285Lc.3853A>CSubstitution - Missense
ENST00000300671p.S1389_E1391>Nc.4166_4173GTTACGAG>ACComplex - deletion inframe
ZNF729ENSG00000196350ENST00000357491p.K165Tc.494A>CSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.S82Gc.244A>GSubstitution - Missense
ZNF57ENSG00000171970ENST00000306908p.P279Pc.837C>GSubstitution - coding silent
PRR12ENSG00000126464ENST00000418929p.R1834Rc.5502G>TSubstitution - coding silent
ENST00000246798p.R1014Rc.3042G>TSubstitution - coding silent
ZNF473ENSG00000142528ENST00000391821p.K81Rc.242A>GSubstitution - Missense
CHGBENSG00000089199ENST00000378961p.E312Kc.934G>ASubstitution - Missense
KLHDC10ENSG00000128607ENST00000335420p.T434Tc.1302A>TSubstitution - coding silent
STRIP2ENSG00000128578ENST00000249344p.S556Cc.1666A>TSubstitution - Missense
STRIP2ENSG00000128578ENST00000249344p.Q723Qc.2169A>GSubstitution - coding silent
MKLN1ENSG00000128585ENST00000352689p.D235Dc.705T>CSubstitution - coding silent
FAM189A2ENSG00000135063ENST00000257515p.I353Nc.1058T>ASubstitution - Missense
FAM189A2ENSG00000135063ENST00000377216p.I140Nc.419T>ASubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.I328fs*2c.979_980insTInsertion - Frameshift
MKI67ENSG00000148773ENST00000368654p.T1655Kc.4964C>ASubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.D493Dc.1479C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.T598Ic.1793C>TSubstitution - Missense
PRMT5ENSG00000100462ENST00000397441p.S422Sc.1266A>CSubstitution - coding silent
OR56A4ENSG00000183389ENST00000330728p.H336Yc.1006C>TSubstitution - Missense
OR5A1ENSG00000172320ENST00000302030p.L295Fc.885G>CSubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.Q107Hc.321G>TSubstitution - Missense
M6PRENSG00000003056ENST00000000412p.S184Sc.552C>TSubstitution - coding silent
TMTC4ENSG00000125247ENST00000342624p.L392Lc.1174C>TSubstitution - coding silent
ENST00000374536p.S668fs*7c.2001_2002delCTDeletion - Frameshift
FMN2ENSG00000155816ENST00000319653p.E782Ac.2345A>CSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.K584Qc.1750A>CSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.K584Qc.1750A>CSubstitution - Missense
GOT1ENSG00000120053ENST00000370508p.?c.959+2_960del746Unknown
HPS6ENSG00000166189ENST00000299238p.A437Sc.1309G>TSubstitution - Missense
SFR1ENSG00000156384ENST00000369729p.V163Vc.489C>GSubstitution - coding silent
NR1H4ENSG00000012504ENST00000548884p.?c.79+10C>AUnknown
TMEM52BENSG00000165685ENST00000298530p.C64Sc.191G>CSubstitution - Missense
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
KIF21AENSG00000139116ENST00000361961p.S1304Sc.3912C>TSubstitution - coding silent
PDZRN4ENSG00000165966ENST00000402685p.R586Gc.1756A>GSubstitution - Missense
HDAC7ENSG00000061273ENST00000080059p.R228Wc.682C>TSubstitution - Missense
NM_015401.1p.R189Wc.565C>TSubstitution - Missense
C12orf5ENSG00000078237ENST00000179259p.P119Pc.357G>ASubstitution - coding silent
NELL2ENSG00000184613ENST00000429094p.V509Fc.1525G>TSubstitution - Missense
PAN3ENSG00000152520ENST00000399613p.K342Ec.1024A>GSubstitution - Missense
PAN3ENSG00000152520ENST00000282391p.K230Ec.688A>GSubstitution - Missense
FRYENSG00000073910ENST00000380250p.S1946Rc.5836A>CSubstitution - Missense
PAN3ENSG00000152520ENST00000380958p.K542Ec.1624A>GSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.Q667Hc.2001G>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.?c.6717-6G>AUnknown
CSMD2ENSG00000121904ENST00000373381p.?c.6711-6G>AUnknown
GOLGA8MENSG00000188626ENST00000563027p.L478Rc.1433T>GSubstitution - Missense
NTMENSG00000182667ENST00000374791p.T218Tc.654C>TSubstitution - coding silent
NTMENSG00000182667ENST00000539799p.T218Tc.654C>TSubstitution - coding silent
PSMA1ENSG00000129084ENST00000418988p.?c.753+1_754-1del2407Unknown
PSMA1ENSG00000129084ENST00000418988p.?c.642+1_643-1del3105Unknown
SOAT1ENSG00000057252ENST00000367619p.?c.1314_1315-2del1353Unknown
PAPPA2ENSG00000116183ENST00000367662p.L968Lc.2904G>TSubstitution - coding silent
TOR1AIP2ENSG00000169905ENST00000367612p.I199Mc.597T>GSubstitution - Missense
MPZL2ENSG00000149573ENST00000278937p.R44Wc.130C>TSubstitution - Missense
NLRX1ENSG00000160703ENST00000292199p.S56Sc.168G>TSubstitution - coding silent
IGSF21ENSG00000117154ENST00000251296p.?c.1295-2A>GUnknown
PTGS2ENSG00000073756ENST00000367468p.?c.457+8A>TUnknown
PTGS2ENSG00000073756ENST00000367468p.?c.457+8A>TUnknown
ZNF281ENSG00000162702ENST00000367353p.R356Wc.1066A>TSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.P818Tc.2452C>ASubstitution - Missense
ENSG00000005189ENST00000261377p.S78Cc.233C>GSubstitution - Missense
RPL3LENSG00000140986ENST00000268661p.H55Qc.165C>GSubstitution - Missense
SIPA1L1ENSG00000197555ENST00000555818p.S1200Fc.3599C>TSubstitution - Missense
TTC9ENSG00000133985ENST00000256367p.A183Ec.548C>ASubstitution - Missense
UNC45AENSG00000140553ENST00000418476p.L237Lc.709C>TSubstitution - coding silent
MCTP2ENSG00000140563ENST00000357742p.P79Hc.236C>ASubstitution - Missense
PARGENSG00000227345ENST00000402038p.Q587Qc.1761A>GSubstitution - coding silent
ENST00000265870p.Y168Cc.503A>GSubstitution - Missense
NM_013266.1p.T867Sc.2599A>TSubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.T867Sc.2599A>TSubstitution - Missense
NM_013266.1p.G793Ec.2378G>ASubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.G793Ec.2378G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.R2106Cc.6316C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.E1937fs*38c.5807_5808insGInsertion - Frameshift
SZT2ENSG00000198198ENST00000372442p.E1937fs*38c.5807_5808insGInsertion - Frameshift
SZT2ENSG00000198198ENST00000562955p.E2779fs*38c.8333_8334insGInsertion - Frameshift
NM_152424.1p.R350fs*27c.1050_1051delAGDeletion - Frameshift
TP53ENSG00000141510ENST00000413465p.Y220Cc.659A>GSubstitution - Missense
RNF38ENSG00000137075ENST00000259605p.?c.1487-10G>TUnknown
ENST00000343819p.V90Lc.268G>CSubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.D1720Gc.5159A>GSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.Y403Yc.1209C>TSubstitution - coding silent
MTIF2ENSG00000085760ENST00000394600p.F659Cc.1976T>GSubstitution - Missense
SPATC1ENSG00000186583ENST00000377470p.Q502Kc.1504C>ASubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.R950Cc.2848C>TSubstitution - Missense
RARS2ENSG00000146282ENST00000369536p.R6Rc.18C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.Y220Cc.659A>GSubstitution - Missense
CR1LENSG00000197721ENST00000508064p.?c.277+1G>CUnknown
CR2ENSG00000117322ENST00000367057p.P92Ac.274C>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.V3087Ic.9259G>ASubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.G22Sc.64G>ASubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.N323Kc.969C>GSubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.V571Vc.1713C>TSubstitution - coding silent
ISL2ENSG00000159556ENST00000290759p.?c.58+9T>GUnknown
STYK1ENSG00000060140ENST00000075503p.H249Hc.747T>CSubstitution - coding silent
POLR3BENSG00000013503ENST00000228347p.L1086Lc.3258G>CSubstitution - coding silent
TAS2R13ENSG00000212128ENST00000390677p.L256Lc.768G>TSubstitution - coding silent
RPL6ENSG00000089009ENST00000202773p.T278Mc.833C>TSubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.N762Ic.2285A>TSubstitution - Missense
FAM109AENSG00000198324ENST00000450786p.N263Dc.787A>GSubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.L86Lc.258G>TSubstitution - coding silent
DOCK9ENSG00000088387ENST00000448493p.L97Lc.291G>TSubstitution - coding silent
ZNF33AENSG00000189180ENST00000307441p.G418Rc.1252G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.?c.498+9C>AUnknown
DNAH14ENSG00000185842ENST00000445597p.?c.879+9C>AUnknown
DNAH14ENSG00000185842ENST00000430092p.?c.2424+5G>AUnknown
DNAH14ENSG00000185842ENST00000366848p.?c.498+9C>AUnknown
KIF20BENSG00000138182ENST00000260753p.Q1197Qc.3591A>GSubstitution - coding silent
NUTM2AENSG00000184923ENST00000381707p.T353Ac.1057A>GSubstitution - Missense
CYP2C19ENSG00000165841ENST00000371321p.F425Fc.1275C>TSubstitution - coding silent
HOGA1ENSG00000241935ENST00000370646p.V239Ic.715G>ASubstitution - Missense
TECTAENSG00000109927ENST00000392793p.A1735Ac.5205C>TSubstitution - coding silent
SLC37A2ENSG00000134955ENST00000308074p.?c.142-4C>AUnknown
SLC37A2ENSG00000134955ENST00000403796p.?c.142-4C>AUnknown
CKAP5ENSG00000175216ENST00000529230p.P1159Pc.3477T>CSubstitution - coding silent
MTCH2ENSG00000109919ENST00000302503p.H60Rc.179A>GSubstitution - Missense
OR10X1ENSG00000186400ENST00000368150p.C49*c.147T>ASubstitution - Nonsense
OBSCNENSG00000154358ENST00000570156p.R4605Wc.13813C>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.D385Dc.1155T>CSubstitution - coding silent
TARBP1ENSG00000059588ENST00000040877p.S1285Sc.3855T>CSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000204726p.G62Gc.186C>GSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000456883p.G62Gc.186C>GSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.F24Fc.72C>TSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.F24Fc.72C>TSubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.I1353Lc.4057A>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.D1767Ec.5301C>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P2708Pc.8124T>CSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.P2938Lc.8813C>TSubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.A1208Tc.3622G>ASubstitution - Missense
DNAJA4ENSG00000140403ENST00000343789p.C197Sc.589T>ASubstitution - Missense
KRT74ENSG00000170484ENST00000305620p.T116fs*31c.345_348delCACTDeletion - Frameshift
KRT75ENSG00000170454ENST00000252245p.V254Lc.760G>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.E1261Dc.3783A>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.T343Tc.1029C>TSubstitution - coding silent
ENST00000268134p.G1697Rc.5089G>ASubstitution - Missense
PEX11AENSG00000166821ENST00000300056p.E172Ac.515A>CSubstitution - Missense
POLD3ENSG00000077514ENST00000263681p.K109Rc.326A>GSubstitution - Missense
POLD3ENSG00000077514ENST00000263681p.K109Rc.326A>GSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.I328fs*2c.979_980insTInsertion - Frameshift


COSMIC

1 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TERTENSG00000164362ENST00000310581p.?c.1-124C>TUnknown23887712