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COR-L321 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1095 mutations reported
327 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
TP53ENSG00000141510ENST00000269305p.E171*c.511G>TSubstitution - Nonsense
ENST00000414315p.E39*c.115G>TSubstitution - Nonsense
KRT72ENSG00000170486ENST00000293745p.A381Tc.1141G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.E171*c.511G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
ENST00000545858p.R82Hc.245G>ASubstitution - Missense
ENST00000414315p.R43Hc.128G>ASubstitution - Missense
MS4A5ENSG00000166930ENST00000300190p.S29*c.86C>ASubstitution - Nonsense
OR4D6ENSG00000166884ENST00000300127p.V68Dc.203T>ASubstitution - Missense
OR52E6ENSG00000205409ENST00000329322p.R124Gc.370C>GSubstitution - Missense
PSMB5ENSG00000100804ENST00000361611p.V71Vc.213C>TSubstitution - coding silent
CIDEBENSG00000136305ENST00000336557p.L290fs*72c.867_876del10Deletion - Frameshift
OR4M1ENSG00000176299ENST00000315957p.K302Kc.906G>ASubstitution - coding silent
OR4N2ENSG00000176294ENST00000315947p.Y73Dc.217T>GSubstitution - Missense
OR4K1ENSG00000155249ENST00000285600p.S230Sc.690C>ASubstitution - coding silent
GPR123ENSG00000197177ENST00000392607p.?c.131+10G>TUnknown
CEP170BENSG00000099814ENST00000414716p.A369Ac.1107G>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.A299Ac.897G>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000414716p.A370Sc.1108G>TSubstitution - Missense
ENST00000368915p.T2129Tc.6387C>ASubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.T2000Tc.6000C>ASubstitution - coding silent
DHX32ENSG00000089876ENST00000284690p.?c.1352-4C>GUnknown
TROAPENSG00000135451ENST00000257909p.R356Rc.1068G>ASubstitution - coding silent
KRT72ENSG00000170486ENST00000293745p.C380*c.1140C>ASubstitution - Nonsense
KANSL2ENSG00000139620ENST00000420613p.?c.877-7A>GUnknown
CAPN9ENSG00000135773ENST00000271971p.R154Sc.462G>TSubstitution - Missense
MORN1ENSG00000116151ENST00000449373p.V171Vc.513G>TSubstitution - coding silent
NID1ENSG00000116962ENST00000264187p.T681Ac.2041A>GSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.L298Lc.892C>TSubstitution - coding silent
NM_018979p.V35Vc.105G>TSubstitution - coding silent
ENST00000368148p.T8Sc.22A>TSubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.Q39Hc.117G>TSubstitution - Missense
C12orf66ENSG00000174206ENST00000398055p.Y68Yc.204T>CSubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.G1022Cc.3064G>TSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.G1667*c.4999G>TSubstitution - Nonsense
INSRRENSG00000027644ENST00000368195p.C12*c.36C>ASubstitution - Nonsense
INSRRENSG00000027644ENST00000368195p.C12*c.36C>ASubstitution - Nonsense
ARHGAP32ENSG00000134909ENST00000310343p.I559Nc.1676T>ASubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.Q375Hc.1125G>TSubstitution - Missense
C10orf129ENSG00000173124ENST00000341686p.L376Fc.1126C>TSubstitution - Missense
C10orf129ENSG00000173124ENST00000327739p.Y179Yc.537C>TSubstitution - coding silent
C1orf95ENSG00000203685ENST00000366788p.P65Pc.195G>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.G1243Vc.3728G>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.R1104Mc.3311G>TSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.Q1068Lc.3203A>TSubstitution - Missense
DIAPH3ENSG00000139734ENST00000400324p.A852Dc.2555C>ASubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.E81Kc.241G>ASubstitution - Missense
HEXAENSG00000213614ENST00000268097p.?c.986+3A>GUnknown
USH2AENSG00000042781ENST00000307340p.Y3062Cc.9185A>GSubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.M1027Lc.3079A>TSubstitution - Missense
OR10A7ENSG00000179919ENST00000326258p.L39Mc.115T>ASubstitution - Missense
NM_024114.2p.N67Kc.201C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S5291Yc.15872C>ASubstitution - Missense
ENST00000356127p.S5291Yc.15872C>ASubstitution - Missense
C4BPBENSG00000123843ENST00000367076p.A6fs*50c.17delCDeletion - Frameshift
CR2ENSG00000117322ENST00000367057p.G660Ac.1979G>CSubstitution - Missense
HDAC9ENSG00000048052ENST00000405010p.R442Hc.1325G>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000370068p.R156Cc.466C>TSubstitution - Missense
NTNG1ENSG00000162631ENST00000370071p.R156Cc.466C>TSubstitution - Missense
NTNG1ENSG00000162631ENST00000370074p.R156Cc.466C>TSubstitution - Missense
ACKR3ENSG00000144476ENST00000272928p.R197Lc.590G>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.Q639*c.1915C>TSubstitution - Nonsense
FAM135BENSG00000147724ENST00000395297p.Q330Kc.988C>ASubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.V92Ac.275T>CSubstitution - Missense
CA10ENSG00000154975ENST00000285273p.T167Tc.501G>ASubstitution - coding silent
ARHGAP17ENSG00000140750ENST00000303665p.T642Mc.1925C>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.L353*c.1058T>ASubstitution - Nonsense
ERC1ENSG00000082805ENST00000397203p.S410Lc.1229C>TSubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.G323Sc.967G>ASubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.R710Hc.2129G>ASubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.R710Hc.2129G>ASubstitution - Missense
GCNT3ENSG00000140297ENST00000396065p.D38Nc.112G>ASubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.T896Sc.2686A>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.A1530Tc.4588G>ASubstitution - Missense
ENST00000228245p.R59Wc.175C>TSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.L748Sc.2243T>CSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.P1559Lc.4676C>TSubstitution - Missense
FAR2ENSG00000064763ENST00000182377p.Q53Hc.159G>TSubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.S754Cc.2260A>TSubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.G282Gc.846C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.Y1599fs*1c.4797delCDeletion - Frameshift
FSCBENSG00000189139ENST00000340446p.P614Pc.1842A>GSubstitution - coding silent
ADAMTS17ENSG00000140470ENST00000268070p.?c.1888+10T>AUnknown
MROH7ENSG00000184313ENST00000421030p.R997Qc.2990G>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.Q396Kc.1186C>ASubstitution - Missense
CYP4A11ENSG00000187048ENST00000310638p.L45Hc.134T>ASubstitution - Missense
HNF1AENSG00000135100ENST00000257555p.G63Vc.188G>TSubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.E483Kc.1447G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.?c.898-10C>AUnknown
SLC22A12ENSG00000197891ENST00000377574p.G246Sc.736G>ASubstitution - Missense
MANEALENSG00000185090ENST00000329006p.C125Sc.373T>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.T2Tc.6G>ASubstitution - coding silent
LILRA6ENSG00000244482ENST00000270464p.T2Tc.6G>ASubstitution - coding silent
LRRC20ENSG00000172731ENST00000373224p.E128Ec.384G>ASubstitution - coding silent
ENST00000426033p.P2161Sc.6481C>TSubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.T141Kc.422C>ASubstitution - Missense
ENSG00000214670ENST00000338772p.L20Vc.58C>GSubstitution - Missense
SLC39A9ENSG00000029364ENST00000336643p.D100Gc.299A>GSubstitution - Missense
DDX59ENSG00000118197ENST00000331314p.T595Tc.1785A>TSubstitution - coding silent
DENND1BENSG00000213047ENST00000367396p.?c.922-1G>TUnknown
DENND1BENSG00000213047ENST00000235453p.?c.832-1G>TUnknown
PTPRCENSG00000081237ENST00000442510p.?c.1165+8T>CUnknown
ENST00000270720p.V478Mc.1432G>ASubstitution - Missense
ATAD3AENSG00000197785ENST00000378755p.G628Rc.1882G>ASubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.S495Ic.1484G>TSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.K866Nc.2598G>TSubstitution - Missense
WT1ENSG00000184937ENST00000379079p.Q299Kc.895C>ASubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.G1106Ac.3317G>CSubstitution - Missense
AMPD3ENSG00000133805ENST00000396554p.C756Rc.2266T>CSubstitution - Missense
CCT2ENSG00000166226ENST00000299300p.A140Ac.420G>TSubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.Q863Qc.2589G>ASubstitution - coding silent
MRGPRX2ENSG00000183695ENST00000329773p.I192Tc.575T>CSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.V1239Ic.3715G>ASubstitution - Missense
ENSG00000270149ENST00000289779p.?c.591+10G>CUnknown
TMEM82ENSG00000162460ENST00000375782p.E98Vc.293A>TSubstitution - Missense
INSCENSG00000188487ENST00000379554p.T258Nc.773C>ASubstitution - Missense
CD244ENSG00000122223ENST00000368034p.K356*c.1066A>TSubstitution - Nonsense
KIAA1522ENSG00000162522ENST00000373480p.L882Mc.2644C>ASubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.Q920Qc.2760G>ASubstitution - coding silent
NDNENSG00000182636ENST00000331837p.P251Qc.752C>ASubstitution - Missense
ENST00000362058p.R30Wc.88C>TSubstitution - Missense
METTL18ENSG00000171806ENST00000303469p.G332*c.994G>TSubstitution - Nonsense
NME7ENSG00000143156ENST00000367811p.E267*c.799G>TSubstitution - Nonsense
SMAD9ENSG00000120693ENST00000379826p.C412Sc.1234T>ASubstitution - Missense
SMAD9ENSG00000120693ENST00000350148p.C375Sc.1123T>ASubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.A893Sc.2677G>TSubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.Y321Nc.961T>ASubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.A1765Pc.5293G>CSubstitution - Missense
ZNF695ENSG00000197472ENST00000339986p.I396Sc.1187T>GSubstitution - Missense
PCCAENSG00000175198ENST00000376285p.S530Sc.1590A>GSubstitution - coding silent
ENST00000359455p.Q40Kc.118C>ASubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.D3Yc.7G>TSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.R1579Pc.4736G>CSubstitution - Missense
OR10A4ENSG00000170782ENST00000379829p.L14Vc.40C>GSubstitution - Missense
OR2D2ENSG00000166368ENST00000299459p.G219Dc.656G>ASubstitution - Missense
NM_020871.2p.P631Tc.1891C>ASubstitution - Missense
RBMXL3ENSG00000175718ENST00000424776p.R772Sc.2314C>ASubstitution - Missense
SDPRENSG00000168497ENST00000304141p.D240Hc.718G>CSubstitution - Missense
ST18ENSG00000147488ENST00000276480p.Q658Hc.1974G>TSubstitution - Missense
FN1ENSG00000115414ENST00000354785p.V977Lc.2929G>CSubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.R719Sc.2157A>TSubstitution - Missense
CCDC141ENSG00000163492ENST00000343876p.D699Hc.2095G>CSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.R51Tc.152G>CSubstitution - Missense
MAP2ENSG00000078018ENST00000199940p.R51Tc.152G>CSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.G636Wc.1906G>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.D816Dc.2448T>CSubstitution - coding silent
SSTR4ENSG00000132671ENST00000255008p.V235Lc.703G>TSubstitution - Missense
CCDC141ENSG00000163492ENST00000420890p.D1274Hc.3820G>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.T5469Nc.16406C>ASubstitution - Missense
MACROD2ENSG00000172264ENST00000217246p.K173Nc.519A>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.L4083*c.12248T>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.V5782Ac.17345T>CSubstitution - Missense
ENST00000356127p.V5782Ac.17345T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L4206Ic.12616C>ASubstitution - Missense
NM_003319p.L4014Ic.12040C>ASubstitution - Missense
PLEKHM1ENSG00000225190ENST00000430334p.W90Cc.270G>TSubstitution - Missense
PLEKHM1ENSG00000225190ENST00000430334p.W90Lc.269G>TSubstitution - Missense
NECAB2ENSG00000103154ENST00000305202p.L310Qc.929T>ASubstitution - Missense
MBTPS1ENSG00000140943ENST00000343411p.L306Vc.916C>GSubstitution - Missense
GLG1ENSG00000090863ENST00000205061p.G644*c.1930G>TSubstitution - Nonsense
MROH2BENSG00000171495ENST00000399564p.S634Sc.1902A>CSubstitution - coding silent
ADAD2ENSG00000140955ENST00000268624p.L193Mc.577C>ASubstitution - Missense
ADAD2ENSG00000140955ENST00000268624p.L498Mc.1492C>ASubstitution - Missense
XM_031689.7p.N2990Kc.8970C>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.1788+5G>TUnknown
TEX29ENSG00000153495ENST00000283547p.C43Fc.128G>TSubstitution - Missense
SKOR1ENSG00000188779ENST00000389002p.S138Wc.413C>GSubstitution - Missense
MAP2K1ENSG00000169032ENST00000307102p.V60Ec.179T>ASubstitution - Missense
HFM1ENSG00000162669ENST00000370425p.L723Lc.2169G>CSubstitution - coding silent
GBP2ENSG00000162645ENST00000370466p.G60Gc.180G>ASubstitution - coding silent
KCNK13ENSG00000152315ENST00000282146p.E174*c.520G>TSubstitution - Nonsense
RBPMS2ENSG00000166831ENST00000300069p.A182Sc.544G>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.S537Sc.1611C>TSubstitution - coding silent
SYT16ENSG00000139973ENST00000430451p.S207Rc.621T>ASubstitution - Missense
ENST00000358254p.S207Rc.621T>ASubstitution - Missense
RTN1ENSG00000139970ENST00000267484p.G147Cc.439G>TSubstitution - Missense
ENST00000339762_v65p.K224Nc.672G>TSubstitution - Missense
AK5ENSG00000154027ENST00000354567p.E121Qc.361G>CSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.R99Sc.295C>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.R99Sc.295C>ASubstitution - Missense
MSH4ENSG00000057468ENST00000263187p.?c.1781+8C>AUnknown
DDHD1ENSG00000100523ENST00000323669p.S345Ic.1034G>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.P1190Tc.3568C>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000371039p.L424Ic.1270T>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000435165p.L126Ic.376T>ASubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.P930Pc.2790A>CSubstitution - coding silent
LEPRENSG00000116678ENST00000349533p.S469Rc.1407C>ASubstitution - Missense
LEPRENSG00000116678ENST00000344610p.S469Rc.1407C>ASubstitution - Missense
LEPRENSG00000116678ENST00000371060p.S469Rc.1407C>ASubstitution - Missense
OR2T5ENSG00000203661ENST00000366473p.K41Nc.123G>TSubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.Q67Kc.199C>ASubstitution - Missense
OR2B11ENSG00000177535ENST00000318749p.L119Lc.357G>TSubstitution - coding silent
GRM5ENSG00000168959ENST00000418177p.R128Lc.383G>TSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.R128Lc.383G>TSubstitution - Missense
AKIP1ENSG00000166452ENST00000309377p.L5Wc.14T>GSubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.L826Lc.2478G>ASubstitution - coding silent
ME3ENSG00000151376ENST00000393324p.R154Sc.462G>TSubstitution - Missense
CTSCENSG00000109861ENST00000227266p.T221Ic.662C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.I449Ic.1347T>ASubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.G124Gc.372C>TSubstitution - coding silent
KIAA0319ENSG00000137261ENST00000378214p.S605Lc.1814C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.R1349Hc.4046G>ASubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.H923Hc.2769C>TSubstitution - coding silent
USP25ENSG00000155313ENST00000400183p.P822Lc.2465C>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.V167Vc.501C>ASubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.P761Pc.2283G>TSubstitution - coding silent
KANSL3ENSG00000114982ENST00000431828p.T792Ac.2374A>GSubstitution - Missense
STX19ENSG00000178750ENST00000315099p.A80Pc.238G>CSubstitution - Missense
CADM2ENSG00000175161ENST00000405615p.?c.1195+5G>AUnknown
CADM2ENSG00000175161ENST00000383699p.?c.1096+5G>AUnknown
FRG2CENSG00000172969ENST00000308062p.K41Ic.122A>TSubstitution - Missense
RGPD1ENSG00000187627ENST00000398193p.P866Ac.2596C>GSubstitution - Missense
ENST00000398193_v68p.P866Ac.2596C>GSubstitution - Missense
ASAP2ENSG00000151693ENST00000281419p.F194Lc.582C>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.G31Rc.91G>CSubstitution - Missense
ZNF433ENSG00000197647ENST00000344980p.V12Ec.35T>ASubstitution - Missense
GCDHENSG00000105607ENST00000222214p.A316Tc.946G>ASubstitution - Missense
ZNF791ENSG00000173875ENST00000343325p.G212Vc.635G>TSubstitution - Missense
ZNF791ENSG00000173875ENST00000343325p.E213Ec.639A>GSubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.G1144Gc.3432C>TSubstitution - coding silent
ENST00000436173p.?c.5905+9C>GUnknown
C17orf70ENSG00000185504ENST00000327787p.I782Fc.2344A>TSubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.I631Fc.1891A>TSubstitution - Missense
HGSENSG00000185359ENST00000329138p.P561Pc.1683C>TSubstitution - coding silent
DSC2ENSG00000134755ENST00000280904p.D534Yc.1600G>TSubstitution - Missense
ABHD15ENSG00000168792ENST00000307201p.D367Dc.1101C>TSubstitution - coding silent
SGSM2ENSG00000141258ENST00000268989p.R395Wc.1183C>TSubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.L676Lc.2028C>TSubstitution - coding silent
XPAENSG00000136936ENST00000375128p.R228Qc.683G>ASubstitution - Missense
HELZENSG00000198265ENST00000358691p.P326Pc.978A>CSubstitution - coding silent
HELZENSG00000198265ENST00000358691p.K90Mc.269A>TSubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.D616Dc.1848C>TSubstitution - coding silent
ATP6V0D2ENSG00000147614ENST00000285393p.G18Cc.52G>TSubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.I682Vc.2044A>GSubstitution - Missense
KIAA1429ENSG00000164944ENST00000297591p.V383Lc.1147G>CSubstitution - Missense
ENST00000377290p.K22Ec.64A>GSubstitution - Missense
ENST00000377290p.L462Lc.1386G>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.F634Fc.1902C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377106p.F506Fc.1518C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377105p.F493Fc.1479C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000423814p.F638Fc.1914C>TSubstitution - coding silent
EXOC4ENSG00000131558ENST00000253861p.D320Yc.958G>TSubstitution - Missense
CPA1ENSG00000091704ENST00000011292p.H82Nc.244C>ASubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.A19Ac.57C>ASubstitution - coding silent
TOPORSENSG00000197579ENST00000360538p.P905Sc.2713C>TSubstitution - Missense
PHACTR3ENSG00000087495ENST00000371015p.?c.281-5G>TUnknown
PPP1R3DENSG00000132825ENST00000370996p.N281Hc.841A>CSubstitution - Missense
LAIR1ENSG00000167613ENST00000391742p.?c.665-7C>TUnknown
SIGLEC9ENSG00000129450ENST00000250360p.S179Cc.536C>GSubstitution - Missense
KLK2ENSG00000167751ENST00000325321p.G28Cc.82G>TSubstitution - Missense
KLK2ENSG00000167751ENST00000358049p.G28Cc.82G>TSubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.Y66Cc.197A>GSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.G556Wc.1666G>TSubstitution - Missense
MADCAM1ENSG00000099866ENST00000215637p.P166Qc.497C>ASubstitution - Missense
ENST00000246798p.R474Pc.1421G>CSubstitution - Missense
ENST00000293218_v68p.T586Tc.1758G>ASubstitution - coding silent
UNKENSG00000132478ENST00000293218p.T510Tc.1530G>ASubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.?c.3941+5G>AUnknown
PGS1ENSG00000087157ENST00000262764p.R451Lc.1352G>TSubstitution - Missense
ENSG00000129951ENST00000359894p.?c.404-6C>GUnknown
FBP1ENSG00000165140ENST00000375326p.G320Rc.958G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.G148Ac.443G>CSubstitution - Missense
LRCH2ENSG00000130224ENST00000317135p.P631Tc.1891C>ASubstitution - Missense
BCORENSG00000183337ENST00000397354p.H256Qc.768C>GSubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.Q974Hc.2922G>TSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.?c.1243-7G>TUnknown
GAKENSG00000178950ENST00000314167p.E831*c.2491G>TSubstitution - Nonsense
DLG1ENSG00000075711ENST00000419354p.G475Vc.1424G>TSubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.T697Tc.2091G>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.T619Tc.1857G>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.T619Tc.1857G>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V2787Lc.8359G>CSubstitution - Missense
ENST00000405167p.V2787Lc.8359G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3757Qc.11271C>GSubstitution - Missense
ENST00000405167p.D3757Ec.11271C>GSubstitution - Missense
ENST00000405167p.T2751Tc.8253C>GSubstitution - coding silent
SPDYAENSG00000163806ENST00000334056p.C93Cc.279T>CSubstitution - coding silent
PPP1CBENSG00000213639ENST00000296122p.C93Cc.279T>CSubstitution - coding silent
TRIM54ENSG00000138100ENST00000296098p.D53Ec.159C>ASubstitution - Missense
NM_032546.2p.D37Ec.111C>ASubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.G381Dc.1142G>ASubstitution - Missense
ZNRF3ENSG00000183579ENST00000406323p.L725Lc.2173C>TSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000354587p.P660Lc.1979C>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359125p.R165fs*6c.493delCDeletion - Frameshift
ZNF880ENSG00000221923ENST00000422689p.C186Sc.557G>CSubstitution - Missense
ZNF577ENSG00000161551ENST00000301399p.K249Ec.745A>GSubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.A128Ac.384C>ASubstitution - coding silent
LILRA6ENSG00000244482ENST00000270464p.P3Hc.8C>ASubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.?c.3982-3C>GUnknown
CLUAP1ENSG00000103351ENST00000576634p.K200Ec.598A>GSubstitution - Missense
ENST00000356150_v68p.N2Sc.5A>GSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.R211Lc.632G>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.R98Lc.293G>TSubstitution - Missense
CNGA3ENSG00000144191ENST00000272602p.K250Mc.749A>TSubstitution - Missense
KHKENSG00000138030ENST00000260598p.G293Dc.878G>ASubstitution - Missense
KHKENSG00000138030ENST00000260599p.G293Dc.878G>ASubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.G440Rc.1318G>CSubstitution - Missense
ACTR1BENSG00000115073ENST00000289228p.D162fs*10c.480_481delAGDeletion - Frameshift
OTOFENSG00000115155ENST00000272371p.Y1411*c.4233C>ASubstitution - Nonsense
OTOFENSG00000115155ENST00000402415p.Y721*c.2163C>ASubstitution - Nonsense
OTOFENSG00000115155ENST00000339598p.Y644*c.1932C>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.E8758Kc.26272G>ASubstitution - Missense
ENST00000541862p.?c.703+5A>CUnknown
BOLLENSG00000152430ENST00000392296p.L96Lc.288T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R29349Gc.88045A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R22977Gc.68929A>GSubstitution - Missense
ENST00000356127p.R29347Gc.88039A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R23044Gc.69130A>GSubstitution - Missense
ASXL1ENSG00000171456ENST00000375687p.R1051Cc.3151C>TSubstitution - Missense
CHN1ENSG00000128656ENST00000409900p.?c.147-9G>TUnknown
ZDHHC8ENSG00000099904ENST00000405930p.G295Cc.883G>TSubstitution - Missense
ZDHHC8ENSG00000099904ENST00000334554p.G295Cc.883G>TSubstitution - Missense
PLAGL2ENSG00000126003ENST00000246229p.T480Tc.1440G>ASubstitution - coding silent
DEFB121ENSG00000204548ENST00000376314p.L14Lc.42G>TSubstitution - coding silent
NINLENSG00000101004ENST00000278886p.D1067Dc.3201C>TSubstitution - coding silent
APCDD1ENSG00000154856ENST00000355285p.S448Rc.1344C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G2663Cc.7987G>TSubstitution - Missense
ZCCHC2ENSG00000141664ENST00000269499p.L808Lc.2424G>ASubstitution - coding silent
LIPGENSG00000101670ENST00000261292p.L170Lc.510C>ASubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.L1964Pc.5891T>CSubstitution - Missense
ENST00000292520p.R79Qc.236G>ASubstitution - Missense
KRIT1ENSG00000001631ENST00000394507p.Q354Lc.1061A>TSubstitution - Missense
LY6EENSG00000160932ENST00000292494p.V81Ic.241G>ASubstitution - Missense
CHRM2ENSG00000181072ENST00000320658p.V125Vc.375C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.E976*c.2926G>TSubstitution - Nonsense
MGAMENSG00000257335ENST00000475668p.E976*c.2926G>TSubstitution - Nonsense
SLC17A3ENSG00000124564ENST00000360657p.D78Hc.232G>CSubstitution - Missense
ENST00000319509_v65p.S679Tc.2035T>ASubstitution - Missense
ENSG00000228273ENST00000379458p.G55Wc.163G>TSubstitution - Missense
PNISRENSG00000132424ENST00000369239p.P564Lc.1691C>TSubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.?c.2343+7C>AUnknown
FAM19A5ENSG00000219438ENST00000402357p.T65Tc.195C>ASubstitution - coding silent
PKDREJENSG00000130943ENST00000253255p.G896Sc.2686G>ASubstitution - Missense
NAGAENSG00000198951ENST00000396398p.Q307fs*4c.919delCDeletion - Frameshift
TOPAZ1ENSG00000173769ENST00000309765p.C311Sc.931T>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.C311Sc.931T>ASubstitution - Missense
FAM19A5ENSG00000219438ENST00000402357p.P5Hc.14C>ASubstitution - Missense
POLDIP3ENSG00000100227ENST00000252115p.G341Wc.1021G>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.E164*c.490G>TSubstitution - Nonsense
RHOENSG00000163914ENST00000296271p.L112Sc.335T>CSubstitution - Missense
AAK1ENSG00000115977ENST00000409085p.N181Yc.541A>TSubstitution - Missense
NM_014911p.N181Yc.541A>TSubstitution - Missense
CCT4ENSG00000115484ENST00000394440p.L116Fc.346C>TSubstitution - Missense
KLF15ENSG00000163884ENST00000296233p.N151Tc.452A>CSubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.L424Rc.1271T>GSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.A1356Ac.4068G>TSubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.A1150Ac.3450G>TSubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.V477Fc.1429G>TSubstitution - Missense
XM_051221.5p.V477Fc.1429G>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.?c.1690+5G>AUnknown
STK11IPENSG00000144589ENST00000295641p.?c.2473-4C>GUnknown
ZC3H6ENSG00000188177ENST00000409871p.G342fs*11c.1023delGDeletion - Frameshift
TTLENSG00000114999ENST00000233336p.N333Ic.998A>TSubstitution - Missense
ENST00000381114p.I2198Vc.6592A>GSubstitution - Missense
MAGEB6ENSG00000176746ENST00000379034p.V245Vc.735G>CSubstitution - coding silent
MAGEB6ENSG00000176746ENST00000379034p.L386Sc.1157T>CSubstitution - Missense
DTNBP1ENSG00000047579ENST00000344537p.V39Lc.115G>CSubstitution - Missense
CPVLENSG00000106066ENST00000396276p.A458Ac.1374T>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T1433Tc.4299G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T1433Tc.4299G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.Q3108Lc.9323A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.Q3115Lc.9344A>TSubstitution - Missense
TRIM41ENSG00000146063ENST00000351937p.D449Gc.1346A>GSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.L351Ic.1051C>ASubstitution - Missense
ENST00000326929p.L351Ic.1051C>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.D979Ec.2937C>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.G42Gc.126C>TSubstitution - coding silent
EGFENSG00000138798ENST00000265171p.A302Sc.904G>TSubstitution - Missense
NM_004389.1p.E94Dc.282G>TSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.G332Ac.995G>CSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.G332Ac.995G>CSubstitution - Missense
EGR4ENSG00000135625ENST00000545030p.L240Mc.718T>ASubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.S510Yc.1529C>ASubstitution - Missense
NAE1ENSG00000159593ENST00000290810p.A356Sc.1066G>TSubstitution - Missense
C16orf70ENSG00000125149ENST00000219139p.?c.796-6C>TUnknown
XIRP1ENSG00000168334ENST00000340369p.A74Dc.221C>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.L1722Lc.5166G>TSubstitution - coding silent
NLGN2ENSG00000169992ENST00000302926p.V271Ac.812T>CSubstitution - Missense
TMEM104ENSG00000109066ENST00000335464p.Y157Cc.470A>GSubstitution - Missense
ZNF135ENSG00000176293ENST00000401053p.L91Ic.271C>ASubstitution - Missense
ZNF135ENSG00000176293ENST00000313434p.L79Ic.235C>ASubstitution - Missense
ZNF135ENSG00000176293ENST00000401053p.P92Sc.274C>TSubstitution - Missense
ZNF135ENSG00000176293ENST00000313434p.P80Sc.238C>TSubstitution - Missense
CD300AENSG00000167851ENST00000360141p.?c.534-2A>GUnknown
CD300LDENSG00000204345ENST00000375352p.T22Ac.64A>GSubstitution - Missense
ZIM2ENSG00000269699ENST00000221722p.S320Tc.958T>ASubstitution - Missense
ZNF329ENSG00000181894ENST00000358067p.P150Hc.449C>ASubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.R81Rc.243A>TSubstitution - coding silent
CACNA1FENSG00000102001ENST00000376265p.?c.4294-5C>TUnknown
LSM1ENSG00000175324ENST00000311351p.R61Qc.182G>ASubstitution - Missense
BCORENSG00000183337ENST00000378444p.H256Qc.768C>GSubstitution - Missense
PCDHA8ENSG00000204962ENST00000531613p.R134Rc.402G>TSubstitution - coding silent
PCDHA8ENSG00000204962ENST00000378123p.R134Rc.402G>TSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.T410Tc.1230A>TSubstitution - coding silent
FGF13ENSG00000129682ENST00000370603p.G176Gc.528C>ASubstitution - coding silent
FGF13ENSG00000129682ENST00000305414p.G113Gc.339C>ASubstitution - coding silent
SNRPAENSG00000077312ENST00000243563p.Q188Hc.564G>TSubstitution - Missense
DPY19L1ENSG00000173852ENST00000310974p.R61Lc.182G>TSubstitution - Missense
CEACAM21ENSG00000007129ENST00000401445p.I241Ic.723C>TSubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000357081p.K591fs*21c.1770delGDeletion - Frameshift
RYR1ENSG00000196218ENST00000359596p.E1912Dc.5736G>TSubstitution - Missense
CARD9ENSG00000187796ENST00000371732p.Q117Qc.351G>ASubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.P919Lc.2756C>TSubstitution - Missense
MRPS2ENSG00000122140ENST00000371785p.Q276Pc.827A>CSubstitution - Missense
OBP2AENSG00000122136ENST00000340780p.F66Ic.196T>ASubstitution - Missense
DBHENSG00000123454ENST00000393056p.?c.487-7G>AUnknown
SMG8ENSG00000167447ENST00000300917p.?c.1760-1G>TUnknown
CLIP3ENSG00000105270ENST00000360535p.?c.1590-9C>AUnknown
SLITRK3ENSG00000121871ENST00000241274p.Q357Kc.1069C>ASubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.S1233Cc.3698C>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A164Sc.490G>TSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.P623Tc.1867C>ASubstitution - Missense
CRIPTENSG00000119878ENST00000238892p.L34Qc.101T>ASubstitution - Missense
CRIPTENSG00000119878ENST00000238892p.L34Lc.102G>CSubstitution - coding silent
C17orf102ENSG00000197322ENST00000357754p.P9Lc.26C>TSubstitution - Missense
FHL5ENSG00000112214ENST00000326771p.D59Ec.177C>ASubstitution - Missense
MMS22LENSG00000146263ENST00000275053p.S88Sc.264A>TSubstitution - coding silent
NCOA7ENSG00000111912ENST00000368357p.R777Rc.2329C>ASubstitution - coding silent
NCOA7ENSG00000111912ENST00000433571p.R87Rc.259C>ASubstitution - coding silent
ENST00000374581p.T154Ac.460A>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.Q1020Hc.3060G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.P1587Hc.4760C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.R2811Kc.8432G>ASubstitution - Missense
EYSENSG00000188107ENST00000342421p.V29Vc.87G>TSubstitution - coding silent
GRIN3BENSG00000116032ENST00000234389p.V428Ac.1283T>CSubstitution - Missense
CBLN2ENSG00000141668ENST00000269503p.P44Pc.132C>GSubstitution - coding silent
NETO1ENSG00000166342ENST00000327305p.C311Fc.932G>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.N449Nc.1347T>CSubstitution - coding silent
TSTENSG00000128311ENST00000249042p.A151Ac.453C>ASubstitution - coding silent
KLHL4ENSG00000102271ENST00000373119p.R224Sc.672G>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.V164Fc.490G>TSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.I1396Vc.4186A>GSubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.M409Vc.1225A>GSubstitution - Missense
POU4F2ENSG00000151615ENST00000281321p.A407Ac.1221C>ASubstitution - coding silent
DBR1ENSG00000138231ENST00000260803p.S464Sc.1392T>CSubstitution - coding silent
ACAD11ENSG00000240303ENST00000264990p.E234Dc.702G>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.A597Gc.1790C>GSubstitution - Missense
PLA1AENSG00000144837ENST00000273371p.?c.276-2A>TUnknown
TOPBP1ENSG00000163781ENST00000260810p.E177fs*8c.529delGDeletion - Frameshift
ENST00000451531_v68p.P798Tc.2392C>ASubstitution - Missense
ATP2A1ENSG00000196296ENST00000357084p.E439Kc.1315G>ASubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.D556Yc.1666G>TSubstitution - Missense
HS3ST4ENSG00000182601ENST00000331351p.S403Rc.1209C>ASubstitution - Missense
FAM46DENSG00000174016ENST00000538312p.L218Mc.652T>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.V115Vc.345C>TSubstitution - coding silent
BTBD2ENSG00000133243ENST00000255608p.R400Rc.1200C>ASubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.G1279Rc.3835G>ASubstitution - Missense
ENST00000359737p.G1092Rc.3274G>ASubstitution - Missense
KLHL9ENSG00000198642ENST00000359039p.V36Vc.108A>TSubstitution - coding silent
CCDC171ENSG00000164989ENST00000380701p.M1096Ic.3288G>CSubstitution - Missense
ENST00000380689p.M363Ic.1089G>CSubstitution - Missense
PLIN2ENSG00000147872ENST00000276914p.R167Pc.500G>CSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.R504Lc.1511G>TSubstitution - Missense
NSUN5ENSG00000130305ENST00000438747p.T442Sc.1324A>TSubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.S679Tc.2035T>ASubstitution - Missense
ESRRGENSG00000196482ENST00000391890p.S196Cc.586A>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.Y3062Cc.9185A>GSubstitution - Missense
ATAD3AENSG00000197785ENST00000339113p.R565Hc.1694G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257880p.M1067Lc.3199A>TSubstitution - Missense
KANSL2ENSG00000139620ENST00000357861p.?c.292-7A>GUnknown
PDZRN4ENSG00000165966ENST00000298919p.Y61Nc.181T>ASubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.E81Kc.241G>ASubstitution - Missense
OR4A16ENSG00000181961ENST00000314721p.L278Lc.834C>GSubstitution - coding silent
WT1ENSG00000184937ENST00000332351p.Q514Kc.1540C>ASubstitution - Missense
NM_139056.1p.S882Sc.2646C>ASubstitution - coding silent
SLC39A7ENSG00000112473ENST00000374675p.Y117*c.351T>ASubstitution - Nonsense
NEK1ENSG00000137601ENST00000507142p.Q849Qc.2547A>GSubstitution - coding silent
MARCH1ENSG00000145416ENST00000503008p.N51Yc.151A>TSubstitution - Missense
HTR3DENSG00000186090ENST00000334128p.V158Mc.472G>ASubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.V134Lc.400G>TSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.?c.3953+7C>TUnknown
FAM135BENSG00000147724ENST00000395297p.S329Sc.987C>GSubstitution - coding silent
OR1J4ENSG00000239590ENST00000340750p.F168Yc.503T>ASubstitution - Missense
GSNENSG00000148180ENST00000373818p.V606Vc.1818G>ASubstitution - coding silent
GSNENSG00000148180ENST00000373823p.V555Vc.1665G>ASubstitution - coding silent
ENST00000373969p.V194Fc.580G>TSubstitution - Missense
CERCAMENSG00000167123ENST00000372842p.L517Ic.1549C>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.N1097Tc.3290A>CSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.P709Hc.2126C>ASubstitution - Missense
TANKENSG00000136560ENST00000259075p.?c.99+1G>AUnknown
MTSS1ENSG00000170873ENST00000518547p.M64Vc.190A>GSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.I248Nc.743T>ASubstitution - Missense
NM_138995p.I248Nc.743T>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.P844Pc.2532C>TSubstitution - coding silent
PRAMEENSG00000185686ENST00000398741p.R3Pc.8G>CSubstitution - Missense
IGLL1ENSG00000128322ENST00000330377p.K150Nc.450G>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.G1470Ac.4409G>CSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.G1470Ac.4409G>CSubstitution - Missense
NM_002847.2p.L314Mc.940C>ASubstitution - Missense
NM_002847.2p.?c.277+9G>TUnknown
PTPRN2ENSG00000155093ENST00000404321p.?c.346+9G>TUnknown
KMT2CENSG00000055609ENST00000355193p.K289*c.865A>TSubstitution - Nonsense
KMT2CENSG00000055609ENST00000262189p.K289*c.865A>TSubstitution - Nonsense
KMT2CENSG00000055609ENST00000355193p.A286Vc.857C>TSubstitution - Missense
LY75ENSG00000054219ENST00000263636p.A1418Ac.4254A>GSubstitution - coding silent
PLTPENSG00000100979ENST00000372431p.G159Gc.477A>GSubstitution - coding silent
PCIF1ENSG00000100982ENST00000372409p.Y175Sc.524A>CSubstitution - Missense
PIGTENSG00000124155ENST00000279036p.Y281Cc.842A>GSubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.P357Hc.1070C>ASubstitution - Missense
TPOENSG00000115705ENST00000345913p.G803Sc.2407G>ASubstitution - Missense
PHLDB3ENSG00000176531ENST00000292140p.I625Vc.1873A>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.R640Rc.1920C>TSubstitution - coding silent
XM_375550.2p.K561fs*21c.1677delGDeletion - Frameshift
ENST00000293882_v62p.E116Qc.346G>CSubstitution - Missense
JMJD8ENSG00000161999ENST00000293882p.E116Qc.346G>CSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.L2039Lc.6117G>TSubstitution - coding silent
FZD6ENSG00000164930ENST00000522566p.Q407Lc.1220A>TSubstitution - Missense
ENST00000316490p.?c.262-1G>TUnknown
HYDINENSG00000157423ENST00000393550p.?c.262-1G>TUnknown
ZFP57ENSG00000204644ENST00000376883p.S291Rc.873C>ASubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.T34Tc.102A>TSubstitution - coding silent
SCAND3ENSG00000232040ENST00000452236p.T295Sc.883A>TSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.M662Ic.1986G>ASubstitution - Missense
C5orf54ENSG00000221886ENST00000408953p.A59Tc.175G>ASubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.C759Fc.2276G>TSubstitution - Missense
PCDHA2ENSG00000204969ENST00000378132p.C759Fc.2276G>TSubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.E784Vc.2351A>TSubstitution - Missense
PCDHA2ENSG00000204969ENST00000378132p.E784Vc.2351A>TSubstitution - Missense
ASB11ENSG00000165192ENST00000537676p.L244Hc.731T>ASubstitution - Missense
SHC2ENSG00000129946ENST00000264554p.K200fs*21c.594delGDeletion - Frameshift
HYDINENSG00000157423ENST00000538248p.?c.343-1G>TUnknown
ZNF230ENSG00000159882ENST00000429154p.C397Sc.1190G>CSubstitution - Missense
ENST00000333984p.A143Sc.427G>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.?c.6559-3C>GUnknown
GPR112ENSG00000156920ENST00000394143p.Q1708Kc.5122C>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.?c.2883+7C>AUnknown
SMG8ENSG00000167447ENST00000300917p.E591*c.1771G>TSubstitution - Nonsense
SURF6ENSG00000148296ENST00000372022p.K296Kc.888G>ASubstitution - coding silent
MPOENSG00000005381ENST00000225275p.P397Pc.1191C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.L1002Lc.3006G>TSubstitution - coding silent
DTWD2ENSG00000169570ENST00000510708p.L113Lc.339A>GSubstitution - coding silent
GPR45ENSG00000135973ENST00000258456p.G169Gc.507C>TSubstitution - coding silent
PDCD1ENSG00000188389ENST00000334409p.L138Mc.412C>ASubstitution - Missense
CAPN10ENSG00000142330ENST00000354082p.G179Gc.537C>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000405249p.A19Ac.57C>ASubstitution - coding silent
PARP12ENSG00000059378ENST00000263549p.D439Gc.1316A>GSubstitution - Missense
RSAD1ENSG00000136444ENST00000258955p.G385Gc.1155A>GSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.V977Lc.2929G>CSubstitution - Missense
SGIP1ENSG00000118473ENST00000371037p.L621Ic.1861T>ASubstitution - Missense
SHBGENSG00000129214ENST00000380450p.E205Kc.613G>ASubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.H494Nc.1480C>ASubstitution - Missense
UBXN10ENSG00000162543ENST00000375099p.D219Ec.657T>ASubstitution - Missense
KCNS3ENSG00000170745ENST00000304101p.T489Tc.1467A>TSubstitution - coding silent
FAM171BENSG00000144369ENST00000304698p.F646fs*33c.1932_1933insCInsertion - Frameshift
NM_024426.2p.Q446Kc.1336C>ASubstitution - Missense
ENST00000251757p.?c.2253+8C>TUnknown
NEUROD4ENSG00000123307ENST00000242994p.A94Dc.281C>ASubstitution - Missense
ENST00000326184p.V37Ac.110T>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.T2000Tc.6000C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.V164Fc.490G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R175Hc.524G>ASubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.R687Rc.2059C>ASubstitution - coding silent
DACH1ENSG00000165659ENST00000305425p.P529Pc.1587G>TSubstitution - coding silent
COL24A1ENSG00000171502ENST00000370571p.E871Kc.2611G>ASubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.Q375Hc.1125G>TSubstitution - Missense
GSNENSG00000148180ENST00000436847p.V566Vc.1698G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.G2618Cc.7852G>TSubstitution - Missense
EXOC4ENSG00000131558ENST00000393161p.D320Yc.958G>TSubstitution - Missense
ENST00000328843_v70p.L4266Sc.12797T>CSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.T34Tc.102A>TSubstitution - coding silent
DTNBP1ENSG00000047579ENST00000355917p.V39Lc.115G>CSubstitution - Missense
HTR5A-AS1ENSG00000220575ENST00000543018p.D33Yc.97G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.T1440Tc.4320G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.Q3147Lc.9440A>TSubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.R856Hc.2567G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.?c.898-10C>AUnknown
KCNIP3ENSG00000115041ENST00000360990p.T22Ic.65C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.A164Sc.490G>TSubstitution - Missense
CAPN10ENSG00000142330ENST00000391982p.G179Gc.537C>TSubstitution - coding silent
HTR3DENSG00000186090ENST00000428798p.V283Mc.847G>ASubstitution - Missense
ZNRF3ENSG00000183579ENST00000544604p.L825Lc.2473C>TSubstitution - coding silent
TPOENSG00000115705ENST00000337415p.?c.1339-3C>GUnknown
TPOENSG00000115705ENST00000337415p.G803Sc.2407G>ASubstitution - Missense
PLTPENSG00000100979ENST00000542937p.G179Gc.537A>GSubstitution - coding silent
PTOV1ENSG00000104960ENST00000221557p.?c.1073+5G>CUnknown
STAT5AENSG00000126561ENST00000452307p.P728Lc.2183C>TSubstitution - Missense
GCDHENSG00000105607ENST00000422947p.A272Tc.814G>ASubstitution - Missense
AMDHD2ENSG00000162066ENST00000413459p.A173Sc.517G>TSubstitution - Missense
LEPRENSG00000116678ENST00000371059p.S469Rc.1407C>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.L652Ic.1954T>ASubstitution - Missense
ENST00000263187_v70p.?c.1781+8C>AUnknown
C1orf95ENSG00000203685ENST00000366789p.P65Pc.195G>TSubstitution - coding silent
ENST00000540389p.A221Ac.663C>ASubstitution - coding silent
OR4C13ENSG00000258817ENST00000555099p.V110Vc.330C>ASubstitution - coding silent
VIMENSG00000026025ENST00000544301p.T266Mc.797C>TSubstitution - Missense
ENST00000535226p.R40Wc.118C>TSubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.L337Mc.1009C>ASubstitution - Missense
HTR5AENSG00000157219ENST00000287907p.S103Yc.308C>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.V2838fs*19c.8510_8511insAInsertion - Frameshift
ENST00000349653p.G407Sc.1219G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P1329Lc.3986C>TSubstitution - Missense
ICA1ENSG00000003147ENST00000402384p.L218Ic.652C>ASubstitution - Missense
GSAPENSG00000186088ENST00000257626p.V193Gc.578T>GSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.P3Hc.8C>ASubstitution - Missense
GPR15ENSG00000154165ENST00000284311p.I68Mc.204C>GSubstitution - Missense
KCNIP3ENSG00000115041ENST00000295225p.T22Ic.65C>TSubstitution - Missense
TBCDENSG00000141556ENST00000355528p.L445Lc.1333C>TSubstitution - coding silent
MTUS1ENSG00000129422ENST00000297488p.?c.122-8T>CUnknown
DOCK3ENSG00000088538ENST00000266037p.H923Hc.2769C>TSubstitution - coding silent
CRHR1ENSG00000120088ENST00000314537p.I159Lc.475A>CSubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.T444Sc.1330A>TSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.R225fs*76c.672_673insGInsertion - Frameshift
ADAMTS3ENSG00000156140ENST00000286657p.K274Nc.822A>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.I1121Mc.3363A>GSubstitution - Missense
SIRPB1ENSG00000101307ENST00000381605p.V385Vc.1155T>ASubstitution - coding silent
RNF111ENSG00000157450ENST00000348370p.P631Lc.1892C>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.L193Lc.579G>CSubstitution - coding silent
SGPP1ENSG00000126821ENST00000247225p.P356Sc.1066C>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.P177Pc.531A>GSubstitution - coding silent
NM_015133.2p.G876Vc.2627G>TSubstitution - Missense
ZNF697ENSG00000143067ENST00000421812p.S394Sc.1182G>CSubstitution - coding silent
ENST00000426033p.M1044Ic.3132G>TSubstitution - Missense
ENST00000307147p.G165Sc.493G>ASubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.L647*c.1940T>ASubstitution - Nonsense
VPS13DENSG00000048707ENST00000358136p.M3769Lc.11305A>CSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.T867Tc.2601T>CSubstitution - coding silent
ARHGAP17ENSG00000140750ENST00000289968p.T720Mc.2159C>TSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000440804p.S179Cc.536C>GSubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.P3Hc.8C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.Q3115Lc.9344A>TSubstitution - Missense
C6orf25ENSG00000204420ENST00000375806p.L203_P207delLDQEPc.607_621del15Deletion - In frame
C6orf25ENSG00000204420ENST00000375809p.P209_E214>Qc.626_640del15Complex - deletion inframe
ENST00000316490_v65p.?c.262-1G>TUnknown
CERCAMENSG00000167123ENST00000372838p.L595Ic.1783C>ASubstitution - Missense
NUB1ENSG00000013374ENST00000566856p.E392Kc.1174G>ASubstitution - Missense
FGF13ENSG00000129682ENST00000315930p.G166Gc.498C>ASubstitution - coding silent
METENSG00000105976ENST00000318493p.I583Mc.1749A>GSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.G5370Gc.16110G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.G2825Cc.8473G>TSubstitution - Missense
CCDC146ENSG00000135205ENST00000285871p.E12Ec.36G>ASubstitution - coding silent
SLC22A1ENSG00000175003ENST00000366963p.M368Tc.1103T>CSubstitution - Missense
BTNL3ENSG00000168903ENST00000342868p.M1Kc.2T>ASubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.S786Tc.2357G>CSubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.S641Cc.1922C>GSubstitution - Missense
NMSENSG00000204640ENST00000376865p.C18Rc.52T>CSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S1246Sc.3738C>TSubstitution - coding silent
SLC17A3ENSG00000124564ENST00000397060p.D78Hc.232G>CSubstitution - Missense
ELANEENSG00000197561ENST00000263621p.R193Lc.578G>TSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375066p.L318Lc.954C>TSubstitution - coding silent
AK5ENSG00000154027ENST00000354567p.V45fs*1c.128delADeletion - Frameshift
PLEKHG3ENSG00000126822ENST00000247226p.D614Vc.1841A>TSubstitution - Missense
OR5B3ENSG00000172769ENST00000309403p.H227Lc.680A>TSubstitution - Missense
EXO5ENSG00000164002ENST00000372703p.R200Cc.598C>TSubstitution - Missense
CARD9ENSG00000187796ENST00000371734p.Q117Qc.351G>ASubstitution - coding silent
HDAC9ENSG00000048052ENST00000417496p.R440Hc.1319G>ASubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.Q330Kc.988C>ASubstitution - Missense
LACE1ENSG00000135537ENST00000368977p.?c.363+1G>TUnknown
PCDHGB6ENSG00000253305ENST00000520790p.S744Gc.2230A>GSubstitution - Missense
VCANENSG00000038427ENST00000265077p.S37Cc.110C>GSubstitution - Missense
ENST00000331870p.P14Lc.41C>TSubstitution - Missense
DTNBP1ENSG00000047579ENST00000338950p.V39Lc.115G>CSubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.D556Yc.1666G>TSubstitution - Missense
POTEIENSG00000196834ENST00000451531p.P798Tc.2392C>ASubstitution - Missense
NM_016323.1p.L820Ic.2458C>ASubstitution - Missense
ENST00000322472p.A107Vc.320C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1981Hc.5943C>TSubstitution - coding silent
ENST00000405167p.H1981Hc.5943C>TSubstitution - coding silent
C2orf50ENSG00000150873ENST00000381585p.G34Cc.100G>TSubstitution - Missense
MMEENSG00000196549ENST00000360490p.C80Sc.238T>ASubstitution - Missense
C17orf77ENSG00000182352ENST00000392620p.C207Yc.620G>ASubstitution - Missense
HNF4GENSG00000164749ENST00000396423p.G364Dc.1091G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000344425p.R165fs*6c.493delCDeletion - Frameshift
STAC2ENSG00000141750ENST00000333461p.C161Cc.483C>TSubstitution - coding silent
ADAM17ENSG00000151694ENST00000310823p.L334Wc.1001T>GSubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.L634Sc.1901T>CSubstitution - Missense
SLC35F4ENSG00000151812ENST00000339762p.K224Nc.672G>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.S576Sc.1728C>TSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.R878Sc.2632C>ASubstitution - Missense
EFCAB13ENSG00000178852ENST00000331493p.E823Vc.2468A>TSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.S345Ic.1034G>TSubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.?c.877-7A>GUnknown
AKAP3ENSG00000111254ENST00000545990p.D569Yc.1705G>TSubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.D569Yc.1705G>TSubstitution - Missense
TLX1ENSG00000107807ENST00000370196p.D294Vc.881A>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.?c.6451-3C>GUnknown
ZNF214ENSG00000149050ENST00000278314p.Q112Hc.336A>TSubstitution - Missense
OR2T12ENSG00000177201ENST00000317996p.P180Pc.540C>TSubstitution - coding silent
OXCT1ENSG00000083720ENST00000196371p.G290Vc.869G>TSubstitution - Missense
TANKENSG00000136560ENST00000457476p.?c.99+1G>AUnknown
ENST00000371287p.R66Qc.197G>ASubstitution - Missense
VIMENSG00000026025ENST00000421459p.T92Mc.275C>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S329Sc.987C>GSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.P3484Pc.10452A>TSubstitution - coding silent
CAMK2AENSG00000070808ENST00000398376p.G482Vc.1445G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G2865Cc.8593G>TSubstitution - Missense
ZBED6CLENSG00000188707ENST00000343855p.Q152Hc.456G>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.L563Lc.1689G>TSubstitution - coding silent
CCDC80ENSG00000091986ENST00000206423p.G285Vc.854G>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.P1278Ac.3832C>GSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.Y2063Cc.6188A>GSubstitution - Missense
NPVFENSG00000105954ENST00000222674p.L183fs*5c.547_553CTATTCA>AGComplex - frameshift
ADAMTS2ENSG00000087116ENST00000251582p.T383Ic.1148C>TSubstitution - Missense
CLIP4ENSG00000115295ENST00000320081p.A344Pc.1030G>CSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.T61Tc.183G>TSubstitution - coding silent
FPR2ENSG00000171049ENST00000340023p.A350Pc.1048G>CSubstitution - Missense
PTPRHENSG00000080031ENST00000376350p.G177Gc.531A>GSubstitution - coding silent
ENSG00000105520ENST00000251473p.?c.255+9A>GUnknown
TONSLENSG00000160949ENST00000409379p.R238Qc.713G>ASubstitution - Missense
TMC8ENSG00000167895ENST00000318430p.E276Gc.827A>GSubstitution - Missense
ZNF491ENSG00000177599ENST00000323169p.A116Ac.348A>GSubstitution - coding silent
NM_080928.2p.?c.107+5T>AUnknown
MROH7ENSG00000184313ENST00000421030p.R997Qc.2990G>ASubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.E1036*c.3106G>TSubstitution - Nonsense
CHTOPENSG00000160679ENST00000368694p.R201*c.601C>TSubstitution - Nonsense
DLG2ENSG00000150672ENST00000280241p.I488Ic.1464T>ASubstitution - coding silent
MANEALENSG00000185090ENST00000373045p.C347Sc.1039T>ASubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.P392Sc.1174C>TSubstitution - Missense
STOML3ENSG00000133115ENST00000379631p.P76Pc.228A>TSubstitution - coding silent
KLRD1ENSG00000134539ENST00000336164p.E41Qc.121G>CSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.R1104Mc.3311G>TSubstitution - Missense
NM_007027.2p.E90fs*8c.268delGDeletion - Frameshift
RAB17ENSG00000124839ENST00000264601p.Q145Hc.435G>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.E976*c.2926G>TSubstitution - Nonsense
OR5K1ENSG00000232382ENST00000332650p.H56Lc.167A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2751Tc.8253C>GSubstitution - coding silent
CHRNA1ENSG00000138435ENST00000261007p.F169Lc.507T>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.L1366Qc.4097T>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.E171*c.511G>TSubstitution - Nonsense
ALOXE3ENSG00000179148ENST00000318227p.D443Yc.1327G>TSubstitution - Missense
PRAM1ENSG00000133246ENST00000423345p.H55Nc.163C>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.D1547Yc.4639G>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.R878Sc.2632C>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.Q695Hc.2085G>TSubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.W119Cc.357G>TSubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.P634Pc.1902G>ASubstitution - coding silent
RPE65ENSG00000116745ENST00000262340p.*534Rc.1600T>CNonstop extension
YLPM1ENSG00000119596ENST00000325680p.A802Tc.2404G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.S1262Cc.3784A>TSubstitution - Missense
OR6F1ENSG00000169214ENST00000302084p.P183Rc.548C>GSubstitution - Missense
PDCENSG00000116703ENST00000391997p.E10*c.28G>TSubstitution - Nonsense
FXYD6ENSG00000137726ENST00000260282p.G40Vc.119G>TSubstitution - Missense
TBL3ENSG00000183751ENST00000568546p.A312Tc.934G>ASubstitution - Missense
PSMB5ENSG00000100804ENST00000493471p.V71Vc.213C>TSubstitution - coding silent
CDHR5ENSG00000099834ENST00000358353p.T534Tc.1602T>ASubstitution - coding silent
FCRL2ENSG00000132704ENST00000361516p.?c.595+9C>AUnknown
TBCDENSG00000141556ENST00000397466p.L59Lc.175C>TSubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000535355p.P922Pc.2766A>CSubstitution - coding silent
HYDINENSG00000157423ENST00000288168p.?c.313-1G>TUnknown
GRIA1ENSG00000155511ENST00000285900p.L324Vc.970C>GSubstitution - Missense
PDGFRAENSG00000134853ENST00000257290p.P267Qc.800C>ASubstitution - Missense
HTR3DENSG00000186090ENST00000382489p.V333Mc.997G>ASubstitution - Missense
TRDNENSG00000186439ENST00000422596p.T28fs*21c.79_80insAInsertion - Frameshift
LAMA2ENSG00000196569ENST00000421865p.A586Ac.1758G>TSubstitution - coding silent
TANGO6ENSG00000103047ENST00000261778p.T287Tc.861A>TSubstitution - coding silent
SNX31ENSG00000174226ENST00000311812p.A105Vc.314C>TSubstitution - Missense
FAM19A5ENSG00000219438ENST00000358295p.T58Tc.174C>ASubstitution - coding silent
KLHL34ENSG00000185915ENST00000379499p.S2Nc.5G>ASubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.?c.1243-7G>TUnknown
ENST00000328219p.D74Nc.220G>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.P3Hc.8C>ASubstitution - Missense
FAM228AENSG00000186453ENST00000295150p.T6Sc.16A>TSubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.S340Rc.1020C>ASubstitution - Missense
DIRC1ENSG00000174325ENST00000308100p.L92Lc.276G>ASubstitution - coding silent
KBTBD3ENSG00000182359ENST00000526793p.N257Sc.770A>GSubstitution - Missense
CORO2BENSG00000103647ENST00000566799p.A129Ac.387G>ASubstitution - coding silent
TNFRSF8ENSG00000120949ENST00000263932p.Y248Nc.742T>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.P1215Sc.3643C>TSubstitution - Missense
YME1L1ENSG00000136758ENST00000326799p.G416Gc.1248A>TSubstitution - coding silent
KCNA3ENSG00000177272ENST00000369769p.R205Lc.614G>TSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.?c.2326+9C>TUnknown
NLRP3ENSG00000162711ENST00000391828p.Y635Fc.1904A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.L2029Qc.6086T>ASubstitution - Missense
ENST00000368577p.?c.2291+10G>TUnknown
ADAMTS2ENSG00000087116ENST00000274609p.T383Ic.1148C>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.T612Ac.1834A>GSubstitution - Missense
ZNF544ENSG00000198131ENST00000333581p.R81Rc.243A>TSubstitution - coding silent
COL6A5ENSG00000172752ENST00000373157p.E68*c.202G>TSubstitution - Nonsense
MTSS1ENSG00000170873ENST00000378017p.M64Vc.190A>GSubstitution - Missense
BRINP1ENSG00000078725ENST00000373964p.V194Fc.580G>TSubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.S882Sc.2646C>ASubstitution - coding silent
NEK1ENSG00000137601ENST00000507142p.Q849Qc.2547A>GSubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.L2039Lc.6117G>TSubstitution - coding silent
ASB11ENSG00000165192ENST00000480796p.L265Hc.794T>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.G326Gc.978C>GSubstitution - coding silent
ORC3ENSG00000135336ENST00000417380p.E22Kc.64G>ASubstitution - Missense
ZSCAN1ENSG00000152467ENST00000391700p.T61Tc.183G>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.R1226Rc.3678G>TSubstitution - coding silent
CHPF2ENSG00000033100ENST00000035307p.R101Gc.301C>GSubstitution - Missense
COL6A5ENSG00000172752ENST00000265379p.E2125*c.6373G>TSubstitution - Nonsense
ERCC3ENSG00000163161ENST00000285398p.G43Gc.129G>TSubstitution - coding silent
SLC8A2ENSG00000118160ENST00000236877p.?c.676-6C>GUnknown
IQCEENSG00000106012ENST00000402050p.K539fs*25c.1609delADeletion - Frameshift
AMER3ENSG00000178171ENST00000321420p.S789Cc.2365A>TSubstitution - Missense
ADAM18ENSG00000168619ENST00000265707p.G309Sc.925G>ASubstitution - Missense
DLG1ENSG00000075711ENST00000346964p.G475Vc.1424G>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000354587p.R165fs*6c.493delCDeletion - Frameshift
HERC6ENSG00000138642ENST00000264346p.Q1005Ec.3013C>GSubstitution - Missense
ENST00000544929p.G237Gc.711G>TSubstitution - coding silent
CDCA7ENSG00000144354ENST00000306721p.R389Sc.1167G>TSubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.S259*c.776C>ASubstitution - Nonsense
ZNF250ENSG00000196150ENST00000292579p.G307Ec.920G>ASubstitution - Missense
ZNF254ENSG00000213096ENST00000357002p.K553Kc.1659A>GSubstitution - coding silent
KIAA1429ENSG00000164944ENST00000421249p.V383Lc.1147G>CSubstitution - Missense
CA9ENSG00000107159ENST00000378357p.L316Ic.946C>ASubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.S1267Lc.3800C>TSubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.S333Wc.998C>GSubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.H286Yc.856C>TSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.D1547Yc.4639G>TSubstitution - Missense
SLAMF6ENSG00000162739ENST00000368059p.T123Sc.367A>TSubstitution - Missense
EPRSENSG00000136628ENST00000366923p.D448Hc.1342G>CSubstitution - Missense
APLNRENSG00000134817ENST00000257254p.R241Qc.722G>ASubstitution - Missense
FGF13ENSG00000129682ENST00000455663p.G182Gc.546C>ASubstitution - coding silent
HMHA1ENSG00000180448ENST00000536472p.?c.1033-5C>TUnknown
MDGA2ENSG00000139915ENST00000399232p.L651*c.1952T>ASubstitution - Nonsense
ENST00000545858p.E78*c.232G>TSubstitution - Nonsense
STRN4ENSG00000090372ENST00000391910p.R442Rc.1326C>TSubstitution - coding silent
SLAMF6ENSG00000162739ENST00000368057p.T123Sc.367A>TSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.*871Kc.2611T>ANonstop extension
PABPC1ENSG00000070756ENST00000318607p.F409Lc.1227C>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P1329Lc.3986C>TSubstitution - Missense
OBP2AENSG00000122136ENST00000371776p.F66Ic.196T>ASubstitution - Missense
MAP7ENSG00000135525ENST00000354570p.P272Qc.815C>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000270464p.A128Ac.384C>ASubstitution - coding silent
FPR2ENSG00000171049ENST00000340023p.I314Ic.942C>TSubstitution - coding silent
MTUS1ENSG00000129422ENST00000262102p.?c.2624-8T>CUnknown
MTUS1ENSG00000129422ENST00000381861p.?c.365-8T>CUnknown
KCNQ2ENSG00000075043ENST00000359125p.P652Lc.1955C>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.G1040Cc.3118G>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.G806*c.2416G>TSubstitution - Nonsense
TLE2ENSG00000065717ENST00000262953p.V61Dc.182T>ASubstitution - Missense
GCSAMLENSG00000169224ENST00000366488p.C11Sc.32G>CSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.S2135Cc.6403A>TSubstitution - Missense
CD244ENSG00000122223ENST00000368033p.K361*c.1081A>TSubstitution - Nonsense
OR52E6ENSG00000205409ENST00000379946p.R128Gc.382C>GSubstitution - Missense
SLC26A10ENSG00000135502ENST00000320442p.R502Sc.1504C>ASubstitution - Missense
TTYH2ENSG00000141540ENST00000269346p.R439Cc.1315C>TSubstitution - Missense
KCNT1ENSG00000107147ENST00000263604p.Q620Kc.1858C>ASubstitution - Missense
OR52H1ENSG00000181616ENST00000322653p.L28Lc.84G>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000452168p.M930Lc.2788A>TSubstitution - Missense
DMRTB1ENSG00000143006ENST00000371445p.?c.961+5G>AUnknown
CA10ENSG00000154975ENST00000340813p.T173Tc.519G>ASubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
B9D2ENSG00000123810ENST00000243578p.I51Lc.151A>CSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.?c.262-1G>TUnknown
TFAP2DENSG00000008197ENST00000008391p.M156Ic.468G>ASubstitution - Missense
ENST00000376458p.R85Lc.254G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A164Sc.490G>TSubstitution - Missense
CCM2ENSG00000136280ENST00000381112p.S447Lc.1340C>TSubstitution - Missense
MAGEA12ENSG00000213401ENST00000357916p.P302Sc.904C>TSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.P1503Sc.4507C>TSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.Q634Qc.1902G>ASubstitution - coding silent
XRCC6ENSG00000196419ENST00000360079p.I327Vc.979A>GSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.K551fs*21c.1650delGDeletion - Frameshift
MPOENSG00000005381ENST00000340482p.P429Pc.1287C>TSubstitution - coding silent
ENST00000344062p.G110Vc.329G>TSubstitution - Missense
ENST00000272666p.Y2307Cc.6920A>GSubstitution - Missense
AMDHD2ENSG00000162066ENST00000302956p.A173Sc.517G>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.N1731Yc.5191A>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.L4266Sc.12797T>CSubstitution - Missense
CCDC54ENSG00000138483ENST00000261058p.S27Pc.79T>CSubstitution - Missense
SRPXENSG00000101955ENST00000378533p.G279Dc.836G>ASubstitution - Missense
ZSCAN5CENSG00000204532ENST00000534327p.P75Pc.225C>ASubstitution - coding silent
ZNF649ENSG00000198093ENST00000354957p.?c.143-4A>TUnknown
SAMD9LENSG00000177409ENST00000318238p.H1033Hc.3099T>CSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.L1366Qc.4097T>ASubstitution - Missense
EPHX4ENSG00000172031ENST00000370383p.I151Kc.452T>ASubstitution - Missense
LIG4ENSG00000174405ENST00000405925p.S830Rc.2488A>CSubstitution - Missense
DTD2ENSG00000129480ENST00000310850p.L83Lc.249A>GSubstitution - coding silent
MBD3L1ENSG00000170948ENST00000305625p.R37Sc.111G>TSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.I596Ic.1788C>TSubstitution - coding silent
MAPK8IP3ENSG00000138834ENST00000250894p.G876Vc.2627G>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.I554Ic.1662T>ASubstitution - coding silent
YLPM1ENSG00000119596ENST00000238571p.A607Tc.1819G>ASubstitution - Missense
OR56A3ENSG00000184478ENST00000329564p.R309Tc.926G>CSubstitution - Missense
SVILENSG00000197321ENST00000355867p.L1409Lc.4227G>ASubstitution - coding silent
CCDC175ENSG00000151838ENST00000537690p.H286Yc.856C>TSubstitution - Missense
XM_377962.1p.N168Nc.504C>TSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.T1127Kc.3380C>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.?c.3382-2A>TUnknown
ENPP1ENSG00000197594ENST00000360971p.?c.158-2A>TUnknown
ZP2ENSG00000103310ENST00000219593p.N621Nc.1863T>CSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.R2771Kc.8312G>ASubstitution - Missense
ENST00000346816p.P800Lc.2399C>TSubstitution - Missense
SCUBE1ENSG00000159307ENST00000290460p.T257Tc.771G>TSubstitution - coding silent
WNK3ENSG00000196632ENST00000354646p.G572Gc.1716A>GSubstitution - coding silent
CD200R1LENSG00000206531ENST00000398214p.L62Fc.186G>TSubstitution - Missense
HOXA2ENSG00000105996ENST00000222718p.I56Vc.166A>GSubstitution - Missense
ENST00000381114p.I2198Vc.6592A>GSubstitution - Missense
RIBC1ENSG00000158423ENST00000375327p.G39Rc.115G>ASubstitution - Missense
RIBC1ENSG00000158423ENST00000457095p.G39Rc.115G>ASubstitution - Missense
ENST00000399933_v61p.S2092Lc.6275C>TSubstitution - Missense
AGTR2ENSG00000180772ENST00000371906p.A258Ac.774A>TSubstitution - coding silent
XM_291314.4p.D631Dc.1893C>TSubstitution - coding silent
PRR12ENSG00000126464ENST00000418929p.R1294Pc.3881G>CSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.V545Lc.1633G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.P1115Qc.3344C>ASubstitution - Missense
RASGRP1ENSG00000172575ENST00000310803p.H315Rc.944A>GSubstitution - Missense
SKOR1ENSG00000188779ENST00000380035p.S147Wc.440C>GSubstitution - Missense
IGSF1ENSG00000147255ENST00000361420p.F297Lc.891T>GSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.C960Sc.2879G>CSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.Q682Hc.2046G>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.I346Ic.1038T>ASubstitution - coding silent
CEP170ENSG00000143702ENST00000366542p.L745*c.2234T>ASubstitution - Nonsense
CDHR5ENSG00000099834ENST00000358353p.?c.1293+8G>TUnknown
DUSP27ENSG00000198842ENST00000361200p.M843Tc.2528T>CSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.L460Sc.1379T>CSubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.A279Vc.836C>TSubstitution - Missense
BRINP3ENSG00000162670ENST00000367462p.E59*c.175G>TSubstitution - Nonsense
HERC5ENSG00000138646ENST00000264350p.L820Ic.2458C>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.R445Hc.1334G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.L2027Qc.6080T>ASubstitution - Missense
NM_003319p.R22852Gc.68554A>GSubstitution - Missense
NM_004133.3p.G327Dc.980G>ASubstitution - Missense
NM_052947p.E846Dc.2538G>CSubstitution - Missense
TMEM150AENSG00000168890ENST00000334462p.R247Qc.740G>ASubstitution - Missense
KCNH6ENSG00000173826ENST00000583023p.A338Ac.1014C>GSubstitution - coding silent
ZYG11AENSG00000203995ENST00000371528p.M662Ic.1986G>ASubstitution - Missense
PTOV1ENSG00000104960ENST00000391842p.?c.1239+5G>CUnknown
CD2ENSG00000116824ENST00000369478p.P348Ac.1042C>GSubstitution - Missense
CCDC87ENSG00000182791ENST00000333861p.Y818Sc.2453A>CSubstitution - Missense
FAM231BENSG00000268674ENST00000601199p.G166Vc.497G>TSubstitution - Missense
NM_000655.2p.M48Tc.143T>CSubstitution - Missense
DDX23ENSG00000174243ENST00000308025p.?c.1803+7C>TUnknown
FAM19A2ENSG00000198673ENST00000416284p.R79Pc.236G>CSubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.A254Tc.760G>ASubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.V35Vc.105G>TSubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.Q1068Lc.3203A>TSubstitution - Missense
ESRRGENSG00000196482ENST00000408911p.S219Cc.655A>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.V164Fc.490G>TSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.A19Ac.57C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.E171*c.511G>TSubstitution - Nonsense
ORC3ENSG00000135336ENST00000257789p.E75Kc.223G>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000426342p.L353*c.1058T>ASubstitution - Nonsense
PTPRDENSG00000153707ENST00000397617p.P908Lc.2723C>TSubstitution - Missense
CRYGSENSG00000213139ENST00000307944p.I176Vc.526A>GSubstitution - Missense
EBF1ENSG00000164330ENST00000313708p.S483Sc.1449C>TSubstitution - coding silent
ENST00000544403p.L324Vc.970C>GSubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.R828Hc.2483G>ASubstitution - Missense
FAM46AENSG00000112773ENST00000369756p.H40Rc.119A>GSubstitution - Missense
F13A1ENSG00000124491ENST00000264870p.F431Sc.1292T>CSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.N449Nc.1347T>CSubstitution - coding silent
KCNT1ENSG00000107147ENST00000298480p.Q639Kc.1915C>ASubstitution - Missense
SFRP2ENSG00000145423ENST00000274063p.D184Nc.550G>ASubstitution - Missense
STRN4ENSG00000090372ENST00000263280p.R435Rc.1305C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.P1547Hc.4640C>ASubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.?c.2473-4C>GUnknown
HIST1H1TENSG00000187475ENST00000338379p.G104Vc.311G>TSubstitution - Missense
GCDHENSG00000105607ENST00000457854p.A316Tc.946G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.?c.1513-5C>TUnknown
ZNF317ENSG00000130803ENST00000247956p.R317Pc.950G>CSubstitution - Missense
LHX8ENSG00000162624ENST00000294638p.D127Yc.379G>TSubstitution - Missense
TRIM16LENSG00000108448ENST00000395671p.Q173Qc.519G>ASubstitution - coding silent
ENSG00000105520ENST00000591608p.?c.180+9A>GUnknown
SPATA6ENSG00000132122ENST00000371847p.?c.239-2A>TUnknown
NPAS3ENSG00000151322ENST00000346562p.Q663Hc.1989G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.L4139Ic.12415C>ASubstitution - Missense
ATG4CENSG00000125703ENST00000414558p.?c.322-1G>TUnknown
MBTPS1ENSG00000140943ENST00000343411p.H906Yc.2716C>TSubstitution - Missense
RLFENSG00000117000ENST00000372771p.C1015Yc.3044G>ASubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.C657Sc.1970G>CSubstitution - Missense
PRMT6ENSG00000198890ENST00000361318p.P269Qc.806C>ASubstitution - Missense
CSNK1A1LENSG00000180138ENST00000379800p.W221Lc.662G>TSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.T1456Ac.4366A>GSubstitution - Missense
ACTRT2ENSG00000169717ENST00000378404p.H183Rc.548A>GSubstitution - Missense
HSPG2ENSG00000142798ENST00000453796p.E155Kc.463G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.S264Sc.792C>ASubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000392657p.I210Nc.629T>ASubstitution - Missense
OR51D1ENSG00000197428ENST00000357605p.H118Qc.354T>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.M1023Lc.3067A>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R175Hc.524G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.G1255Vc.3764G>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.L1135Lc.3403T>CSubstitution - coding silent
OR1B1ENSG00000171484ENST00000304833p.P293Tc.877C>ASubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.T111Tc.333C>GSubstitution - coding silent
SELLENSG00000188404ENST00000236147p.M61Tc.182T>CSubstitution - Missense
POP1ENSG00000104356ENST00000349693p.M80Kc.239T>ASubstitution - Missense
RNF207ENSG00000158286ENST00000377939p.K621*c.1861A>TSubstitution - Nonsense
ZDBF2ENSG00000204186ENST00000374423p.D816Dc.2448T>CSubstitution - coding silent
C14orf166ENSG00000087302ENST00000261700p.D147Yc.439G>TSubstitution - Missense
RNF111ENSG00000157450ENST00000434298p.P631Lc.1892C>TSubstitution - Missense
CLCN7ENSG00000103249ENST00000382745p.?c.917-2A>CUnknown
NM_001271.1p.E1036*c.3106G>TSubstitution - Nonsense
PRMT6ENSG00000198890ENST00000370078p.P328Qc.983C>ASubstitution - Missense
SDSLENSG00000139410ENST00000345635p.S99Sc.297C>ASubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.E2740Kc.8218G>ASubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.Y2366*c.7098C>ASubstitution - Nonsense
SRPXENSG00000101955ENST00000343800p.G266Dc.797G>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.R156Cc.466C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.A286Vc.857C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R175Hc.524G>ASubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.E780fs*7c.2336delGDeletion - Frameshift
SUSD2ENSG00000099994ENST00000358321p.R714Hc.2141G>ASubstitution - Missense
ZFP57ENSG00000204644ENST00000376883p.G127Vc.380G>TSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.Q1020Hc.3060G>CSubstitution - Missense
FAM151BENSG00000152380ENST00000282226p.?c.151+8A>TUnknown
ENST00000272666p.?c.1690+5G>AUnknown
GRPRENSG00000126010ENST00000380289p.S292Tc.874T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.T1440Tc.4320G>TSubstitution - coding silent
TRIM41ENSG00000146063ENST00000315073p.D449Gc.1346A>GSubstitution - Missense
DCLK3ENSG00000163673ENST00000416516p.A14Ac.42T>ASubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.A2248Ac.6744G>ASubstitution - coding silent
KIAA1755ENSG00000149633ENST00000279024p.A511Ac.1533C>ASubstitution - coding silent
NM_021628.1p.D311Yc.931G>TSubstitution - Missense
RAB40BENSG00000141542ENST00000571995p.R99Lc.296G>TSubstitution - Missense
ZNF133ENSG00000125846ENST00000377671p.V270Mc.808G>ASubstitution - Missense
ROR1ENSG00000185483ENST00000371079p.C362Cc.1086C>TSubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000307431p.P1187Qc.3560C>ASubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.E483Kc.1447G>ASubstitution - Missense
ACSM5ENSG00000183549ENST00000331849p.E348Dc.1044G>TSubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.A300Sc.898G>TSubstitution - Missense
PDZRN4ENSG00000165966ENST00000539469p.Y63Nc.187T>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.R154Sc.462G>TSubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.D538Gc.1613A>GSubstitution - Missense
OLFM4ENSG00000102837ENST00000219022p.R322Rc.964C>ASubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000537245p.P932Pc.2796A>CSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.N193Nc.579C>TSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.M662Ic.1986G>ASubstitution - Missense
TRIM16LENSG00000108448ENST00000395902p.Q227Qc.681G>ASubstitution - coding silent
TRIM48ENSG00000150244ENST00000417545p.N83Kc.249C>ASubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.R640Rc.1920C>TSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.E128Dc.384G>TSubstitution - Missense
PIGTENSG00000124155ENST00000279036p.Y281Cc.842A>GSubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.P923Lc.2768C>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.M692Ic.2076G>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373114p.R224Sc.672G>TSubstitution - Missense
HHATLENSG00000010282ENST00000310417p.G290Sc.868G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.A164Sc.490G>TSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.N710Ic.2129A>TSubstitution - Missense
FNIP1ENSG00000217128ENST00000510461p.S1063Sc.3189T>CSubstitution - coding silent
FAM46DENSG00000174016ENST00000538312p.G233Vc.698G>TSubstitution - Missense
RSPH6AENSG00000104941ENST00000221538p.T246Tc.738C>GSubstitution - coding silent
HS3ST4ENSG00000182601ENST00000331351p.S403Rc.1209C>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.V164Fc.490G>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.V164Fc.490G>TSubstitution - Missense
REG3GENSG00000143954ENST00000393897p.S49Yc.146C>ASubstitution - Missense
SRMSENSG00000125508ENST00000217188p.R284Wc.850C>TSubstitution - Missense
SH3YL1ENSG00000035115ENST00000405430p.N2Sc.5A>GSubstitution - Missense
CAPN10ENSG00000142330ENST00000391984p.G179Gc.537C>TSubstitution - coding silent
BOLLENSG00000152430ENST00000321801p.L108Lc.324T>ASubstitution - coding silent
ASXL1ENSG00000171456ENST00000306058p.R1046Cc.3136C>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.R165fs*6c.493delCDeletion - Frameshift
NUB1ENSG00000013374ENST00000568733p.E416Kc.1246G>ASubstitution - Missense
CHRDENSG00000090539ENST00000204604p.P946Sc.2836C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.E171*c.511G>TSubstitution - Nonsense
HNF4AENSG00000101076ENST00000316099p.P379Hc.1136C>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.G326Gc.978C>GSubstitution - coding silent
CEACAM21ENSG00000007129ENST00000401445p.I241Ic.723C>TSubstitution - coding silent
GGT5ENSG00000099998ENST00000327365p.G489Vc.1466G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.V2838fs*19c.8511_8512insAInsertion - Frameshift
EYSENSG00000188107ENST00000370621p.V29Vc.87G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.Q3108Lc.9323A>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.S1122Sc.3366G>ASubstitution - coding silent
FAM46DENSG00000174016ENST00000538312p.H217Lc.650A>TSubstitution - Missense
HSD3B7ENSG00000099377ENST00000297679p.?c.694+1G>TUnknown
ZNF629ENSG00000102870ENST00000262525p.T257Tc.771C>TSubstitution - coding silent
STXBP5LENSG00000145087ENST00000273666p.H751Yc.2251C>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.L1937*c.5810T>ASubstitution - Nonsense
C2orf48ENSG00000163009ENST00000381786p.M26Lc.76A>TSubstitution - Missense
SULT1C2ENSG00000198203ENST00000326853p.?c.152-7G>AUnknown
SULT1C2ENSG00000198203ENST00000251481p.?c.152-7G>AUnknown
SLC7A6ENSG00000103064ENST00000219343p.V130Vc.390C>ASubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.E94Dc.282G>TSubstitution - Missense
ENST00000315574p.V803Vc.2409G>ASubstitution - coding silent
RBL2ENSG00000103479ENST00000262133p.G285Sc.853G>ASubstitution - Missense
ENST00000356127p.E8758Kc.26272G>ASubstitution - Missense
DSC2ENSG00000134755ENST00000251081p.D534Yc.1600G>TSubstitution - Missense
ENST00000332012p.R119Lc.356G>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.G3*c.7G>TSubstitution - Nonsense
QRICH2ENSG00000129646ENST00000262765p.K1121Ec.3361A>GSubstitution - Missense
ACTL9ENSG00000181786ENST00000324436p.V261Mc.781G>ASubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.K964Mc.2891A>TSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.Y853*c.2559T>GSubstitution - Nonsense
RIN3ENSG00000100599ENST00000216487p.I160Ic.480C>TSubstitution - coding silent
TRIM58ENSG00000162722ENST00000366481p.G359Cc.1075G>TSubstitution - Missense
PPP1CAENSG00000172531ENST00000376745p.D3Yc.7G>TSubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.D137Nc.409G>ASubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.M149Lc.445A>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.P177Pc.531A>GSubstitution - coding silent
KIAA1522ENSG00000162522ENST00000401073p.L941Mc.2821C>ASubstitution - Missense
DACH1ENSG00000165659ENST00000359684p.P581Pc.1743G>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000441542p.R445Hc.1334G>ASubstitution - Missense
ATAD3BENSG00000160072ENST00000308647p.Y604Hc.1810T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.T1499Tc.4497G>TSubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.Q639*c.1915C>TSubstitution - Nonsense
WDR17ENSG00000150627ENST00000280190p.H921Rc.2762A>GSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.S145*c.434C>ASubstitution - Nonsense
CSKENSG00000103653ENST00000220003p.R281Gc.841A>GSubstitution - Missense
BCAS3ENSG00000141376ENST00000589222p.L661Lc.1983C>TSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359689p.P652Lc.1955C>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.A519Tc.1555G>ASubstitution - Missense
TPOENSG00000115705ENST00000345913p.?c.1339-3C>GUnknown
STAT5AENSG00000126561ENST00000345506p.P731Lc.2192C>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.Q260Lc.779A>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.R504Lc.1511G>TSubstitution - Missense
ENST00000258092p.L137Mc.409T>ASubstitution - Missense
ALPK2ENSG00000198796ENST00000361673p.E1485Dc.4455G>CSubstitution - Missense
NM_014422.1p.G14Dc.41G>ASubstitution - Missense
IGHV1OR21-1ENSG00000169861ENST00000302092p.D74Yc.220G>TSubstitution - Missense
CENPOENSG00000138092ENST00000473706p.L5Vc.13C>GSubstitution - Missense
YIPF7ENSG00000177752ENST00000332990p.D16Hc.46G>CSubstitution - Missense
ENST00000541862p.?c.1187-1G>AUnknown
ASB15ENSG00000146809ENST00000451558p.?c.107+5T>AUnknown
CENPIENSG00000102384ENST00000423383p.W542Cc.1626G>TSubstitution - 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