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CP67-MEL - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1732 mutations reported
688 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
HYOU1ENSG00000149428ENST00000543287p.M247Ic.741G>ASubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.K148Nc.444G>TSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.D163Nc.487G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000441350p.I167Ic.501C>TSubstitution - coding silent
NEK11ENSG00000114670ENST00000507910p.?c.336+10T>AUnknown
C9orf131ENSG00000174038ENST00000421362p.A519Dc.1556C>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E1590Kc.4768G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.F4094Fc.12282C>TSubstitution - coding silent
CDH1ENSG00000039068ENST00000261769p.R598*c.1792C>TSubstitution - Nonsense
SU_NEK5p.?c.1651-4A>GUnknown
COL11A1ENSG00000060718ENST00000370096p.G1678Ec.5033G>ASubstitution - Missense
HHATENSG00000054392ENST00000367010p.M311Tc.932T>CSubstitution - Missense
DNTTENSG00000107447ENST00000371174p.R48Cc.142C>TSubstitution - Missense
XPOTENSG00000184575ENST00000332707p.R483Pc.1448G>CSubstitution - Missense
OR6K6ENSG00000180433ENST00000368144p.L213Lc.637C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.R7246Pc.21737G>CSubstitution - Missense
LTBRENSG00000111321ENST00000228918p.G163Sc.487G>ASubstitution - Missense
PTPROENSG00000151490ENST00000281171p.Y561Hc.1681T>CSubstitution - Missense
MMP21ENSG00000154485ENST00000368808p.K487Kc.1461G>ASubstitution - coding silent
TM7SF2ENSG00000149809ENST00000279263p.R386Cc.1156C>TSubstitution - Missense
BATF2ENSG00000168062ENST00000301887p.S74Sc.222C>TSubstitution - coding silent
PLA2G1BENSG00000170890ENST00000308366p.Q68Hc.204G>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.P798Lc.2393C>TSubstitution - Missense
C1SENSG00000182326ENST00000328916p.P249Lc.746C>TSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.D140Nc.418G>ASubstitution - Missense
CYP4A22ENSG00000162365ENST00000371891p.?c.337+9G>AUnknown
GBP6ENSG00000183347ENST00000370456p.?c.872-7C>GUnknown
MAPTENSG00000186868ENST00000344290p.S687Sc.2061G>ASubstitution - coding silent
APOBENSG00000084674ENST00000233242p.T1360Tc.4080G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000355637p.?c.1112-10T>CUnknown
MROH8ENSG00000101353ENST00000400441p.?c.1075-10C>TUnknown
SPAM1ENSG00000106304ENST00000340011p.S119Fc.356C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.F1162Fc.3486C>TSubstitution - coding silent
CACNG5ENSG00000075429ENST00000533854p.G240Sc.718G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.F152Lc.454T>CSubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.?c.142+7G>AUnknown
MGAMENSG00000257335ENST00000475668p.?c.4771-9C>TUnknown
SIGLEC12ENSG00000254521ENST00000291707p.L222Lc.666C>TSubstitution - coding silent
NM_206943.1p.S1007Rc.3019A>CSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.G610Ec.1829G>ASubstitution - Missense
ENST00000318252p.C256*c.768T>ASubstitution - Nonsense
EIF1BENSG00000114784ENST00000232905p.K104Kc.312G>ASubstitution - coding silent
TET3ENSG00000187605ENST00000409262p.A70Tc.208G>ASubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.H824Pc.2471A>CSubstitution - Missense
PLGENSG00000122194ENST00000308192p.G737Ec.2210G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.E5228Ec.15684A>GSubstitution - coding silent
RELNENSG00000189056ENST00000343529p.P999Sc.2995C>TSubstitution - Missense
RIBC2ENSG00000128408ENST00000342894p.P197Pc.591C>ASubstitution - coding silent
KALRNENSG00000160145ENST00000291478p.S138Lc.413C>TSubstitution - Missense
DNERENSG00000187957ENST00000341772p.R355Rc.1065G>ASubstitution - coding silent
ENTPD2ENSG00000054179ENST00000355097p.Q105Qc.315G>ASubstitution - coding silent
RELNENSG00000189056ENST00000343529p.R2089Kc.6266G>ASubstitution - Missense
RPS6KA6ENSG00000072133ENST00000262752p.G41Ec.122G>ASubstitution - Missense
TMEM217ENSG00000172738ENST00000356757p.?c.606-7C>TUnknown
CCRL2ENSG00000121797ENST00000399036p.I16Tc.47T>CSubstitution - Missense
OGFRL1ENSG00000119900ENST00000370435p.E138Kc.412G>ASubstitution - Missense
THADAENSG00000115970ENST00000405975p.Y1459Dc.4375T>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.R1293Qc.3878G>ASubstitution - Missense
HBS1LENSG00000112339ENST00000367837p.?c.1424-6T>CUnknown
ATP2B3ENSG00000067842ENST00000263519p.F182Fc.546C>TSubstitution - coding silent
SMARCD3ENSG00000082014ENST00000392811p.L363Fc.1087C>TSubstitution - Missense
SLFN13ENSG00000154760ENST00000285013p.L589Lc.1767C>TSubstitution - coding silent
VNN2ENSG00000112303ENST00000326499p.R205Rc.615G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ENST00000309900p.D246Dc.738C>TSubstitution - coding silent
NME8ENSG00000086288ENST00000199447p.A302Ac.906T>ASubstitution - coding silent
SNX13ENSG00000071189ENST00000428135p.A831Ac.2493C>TSubstitution - coding silent
OR5AP2ENSG00000172464ENST00000302981p.S81Fc.242C>TSubstitution - Missense
OR51B2ENSG00000184881ENST00000328813p.F96Fc.288C>TSubstitution - coding silent
FANK1ENSG00000203780ENST00000368691p.L174Lc.522C>TSubstitution - coding silent
ENST00000255326p.K108Kc.324G>ASubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.D353Dc.1059C>TSubstitution - coding silent
CYP4A22ENSG00000162365ENST00000371890p.?c.337+9G>AUnknown
SLIT3ENSG00000184347ENST00000404867p.S802Fc.2405C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.Y1282Yc.3846T>CSubstitution - coding silent
RIBC2ENSG00000128408ENST00000538017p.P265Pc.795C>ASubstitution - coding silent
CRYBA4ENSG00000196431ENST00000354760p.D167Nc.499G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.E1133Kc.3397G>ASubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.L584Lc.1750C>TSubstitution - coding silent
OR52B4ENSG00000221996ENST00000408920p.V119Vc.357G>ASubstitution - coding silent
OR4X2ENSG00000172208ENST00000302329p.F54Fc.162C>TSubstitution - coding silent
EIF5ENSG00000100664ENST00000392715p.S172Fc.515C>TSubstitution - Missense
RBMXL2ENSG00000170748ENST00000306904p.D251Nc.751G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.E619Ec.1857G>ASubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.V2864Vc.8592T>CSubstitution - coding silent
RARRES3ENSG00000133321ENST00000255688p.R18Cc.52C>TSubstitution - Missense
ENST00000338282p.E1747Kc.5239G>ASubstitution - Missense
MRGPRGENSG00000182170ENST00000332314p.A56Pc.166G>CSubstitution - Missense
MIPOL1ENSG00000151338ENST00000327441p.I267Mc.801A>GSubstitution - Missense
PKP2ENSG00000057294ENST00000070846p.P84Lc.251C>TSubstitution - Missense
ENSG00000273259ENST00000553947p.D250Nc.748G>ASubstitution - Missense
ENSG00000273259ENST00000393078p.D225Nc.673G>ASubstitution - Missense
GJB6ENSG00000121742ENST00000400065p.E42Kc.124G>ASubstitution - Missense
PDCD7ENSG00000090470ENST00000204549p.F462Fc.1386C>TSubstitution - coding silent
ENST00000262017p.V485Ic.1453G>ASubstitution - Missense
ALOX15ENSG00000161905ENST00000570836p.S615Lc.1844C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G1213Ec.3638G>ASubstitution - Missense
ENST00000331986p.P370Lc.1109C>TSubstitution - Missense
CPNE1ENSG00000214078ENST00000317677p.R492Hc.1475G>ASubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.E172Kc.514G>ASubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.R507Cc.1519C>TSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.?c.1246+10C>TUnknown
RGS9ENSG00000108370ENST00000262406p.F513Fc.1539C>TSubstitution - coding silent
TCP10ENSG00000203690ENST00000397829p.G127Rc.379G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.?c.217+7G>AUnknown
NM_003319p.G17744Rc.53230G>CSubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.Q524Qc.1572A>GSubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.G173Ac.518G>CSubstitution - Missense
CDH16ENSG00000166589ENST00000299752p.G286Ec.857G>ASubstitution - Missense
FBXO5ENSG00000112029ENST00000229758p.T42Tc.126C>TSubstitution - coding silent
ATG9AENSG00000198925ENST00000396761p.V836Mc.2506G>ASubstitution - Missense
FAM124BENSG00000124019ENST00000243806p.R40Qc.119G>ASubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.?c.263-8C>TUnknown
SH2B2ENSG00000160999ENST00000306803p.G214Sc.640G>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.A1631Vc.4892C>TSubstitution - Missense
FAM229BENSG00000203778ENST00000368656p.R42Kc.125G>ASubstitution - Missense
TJP3ENSG00000105289ENST00000262968p.I692Ic.2076C>ASubstitution - coding silent
PCSK5ENSG00000099139ENST00000545128p.P129Lc.386C>TSubstitution - Missense
TTF1ENSG00000125482ENST00000334270p.R508Rc.1524G>ASubstitution - coding silent
ANKHD1ENSG00000131503ENST00000297183p.G1273Ec.3818G>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.R1200Rc.3600G>ASubstitution - coding silent
ENST00000342288p.S348Sc.1044C>TSubstitution - coding silent
DOCK4ENSG00000128512ENST00000437633p.S360Fc.1079C>TSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
OR2F1ENSG00000213215ENST00000392899p.R293Kc.878G>ASubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.?c.995-7C>TUnknown
WIZENSG00000011451ENST00000389282p.T839Ic.2516C>TSubstitution - Missense
GP5ENSG00000178732ENST00000323007p.S87Sc.261C>TSubstitution - coding silent
ENST00000256343_v70p.R938Rc.2814G>ASubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.E247Kc.739G>ASubstitution - Missense
LILRA5ENSG00000187116ENST00000432233p.L44Lc.132C>TSubstitution - coding silent
OBSL1ENSG00000124006ENST00000373873p.E967Kc.2899G>ASubstitution - Missense
GPATCH11ENSG00000152133ENST00000409774p.S11Sc.33C>TSubstitution - coding silent
SLC18B1ENSG00000146409ENST00000275227p.?c.990-9C>TUnknown
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ENST00000318560_v70p.G1025Dc.3074G>ASubstitution - Missense
UIMC1ENSG00000087206ENST00000377227p.L244Lc.732C>GSubstitution - coding silent
TAGLN2ENSG00000158710ENST00000368096p.P92Lc.275C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.R1245Qc.3734G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.S1338Sc.4014C>TSubstitution - coding silent
NEBLENSG00000078114ENST00000417816p.R73Cc.217C>TSubstitution - Missense
ITIH2ENSG00000151655ENST00000358415p.S320Fc.959C>TSubstitution - Missense
FCRL5ENSG00000143297ENST00000361835p.G794Ec.2381G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.R925Cc.2773C>TSubstitution - Missense
IREB2ENSG00000136381ENST00000258886p.D269Nc.805G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.E577Ec.1731G>ASubstitution - coding silent
KRT6AENSG00000205420ENST00000330722p.G107Sc.319G>ASubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.F501Fc.1503C>TSubstitution - coding silent
C1orf101ENSG00000179397ENST00000366533p.F501Fc.1503C>TSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000437966p.P258Pc.774C>TSubstitution - coding silent
KIFAP3ENSG00000075945ENST00000538366p.?c.607+7A>GUnknown
PRB3ENSG00000197870ENST00000381842p.E58Gc.173A>GSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.I727Ic.2181C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.P4436Lc.13307C>TSubstitution - Missense
ENST00000417249p.A487Vc.1460C>TSubstitution - Missense
ENST00000318301p.E584Kc.1750G>ASubstitution - Missense
PPP2R5CENSG00000078304ENST00000328724p.A419Ac.1257G>ASubstitution - coding silent
TTNENSG00000155657ENST00000360870p.S5074Sc.15222C>TSubstitution - coding silent
NM_003319p.A4422Tc.13264G>ASubstitution - Missense
CPOENSG00000144410ENST00000272852p.T44Tc.132G>TSubstitution - coding silent
ENST00000356127p.E5300Kc.15898G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.?c.996-10T>CUnknown
ENST00000429478p.S511Sc.1533G>ASubstitution - coding silent
PTOV1ENSG00000104960ENST00000391842p.E132Ec.396G>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.M966Lc.2896A>TSubstitution - Missense
GRM8ENSG00000179603ENST00000405249p.F52Fc.156C>TSubstitution - coding silent
NAPSAENSG00000131400ENST00000253719p.L176Lc.528G>ASubstitution - coding silent
ENST00000318252p.G2310Sc.6928G>ASubstitution - Missense
TMPRSS11EENSG00000087128ENST00000305363p.N327Ic.980A>TSubstitution - Missense
GCKRENSG00000084734ENST00000264717p.S388Sc.1164C>TSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.H329Qc.987C>GSubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.I1224Ic.3672C>TSubstitution - coding silent
NM_152632.1p.L633Ic.1897T>ASubstitution - Missense
DLEC1ENSG00000008226ENST00000308059p.P330Pc.990C>TSubstitution - coding silent
DLEC1ENSG00000008226ENST00000346219p.P330Pc.990C>TSubstitution - coding silent
ZNF548ENSG00000188785ENST00000336128p.C110Yc.329G>ASubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.R568*c.1702C>TSubstitution - Nonsense
CDH10ENSG00000040731ENST00000264463p.R35Kc.104G>ASubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.D752Ec.2256C>ASubstitution - Missense
FAM124BENSG00000124019ENST00000409685p.R40Qc.119G>ASubstitution - Missense
NPDC1ENSG00000107281ENST00000371601p.A40Ac.120C>TSubstitution - coding silent
ZNF28ENSG00000198538ENST00000339844p.?c.4-4C>TUnknown
UNC13AENSG00000130477ENST00000519716p.E247Kc.739G>ASubstitution - Missense
GOLM1ENSG00000135052ENST00000388712p.V380Ac.1139T>CSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.R1450Kc.4349G>ASubstitution - Missense
TAAR8ENSG00000146385ENST00000275200p.P136Sc.406C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.D4161Dc.12483T>CSubstitution - coding silent
RADILENSG00000157927ENST00000399583p.L220Lc.658C>TSubstitution - coding silent
CNTNAP2ENSG00000174469ENST00000361727p.F1273Fc.3819C>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000283254p.S1969Fc.5906C>TSubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.S1920Fc.5759C>TSubstitution - Missense
G6PC2ENSG00000152254ENST00000375363p.N211Sc.632A>GSubstitution - Missense
RNF180ENSG00000164197ENST00000296615p.D49Nc.145G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.S2069Lc.6206C>TSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.I191Ic.573C>TSubstitution - coding silent
FCRL5ENSG00000143297ENST00000356953p.G794Ec.2381G>ASubstitution - Missense
IL18R1ENSG00000115604ENST00000233957p.T9Ic.26C>TSubstitution - Missense
ARMC9ENSG00000135931ENST00000349938p.Q59Rc.176A>GSubstitution - Missense
TRIM56ENSG00000169871ENST00000306085p.P547Sc.1639C>TSubstitution - Missense
SLC12A9ENSG00000146828ENST00000354161p.A133Ac.399C>TSubstitution - coding silent
SLC5A5ENSG00000105641ENST00000222248p.G260Sc.778G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G3788Rc.11362G>ASubstitution - Missense
GTF3C6ENSG00000155115ENST00000329970p.E65Dc.195G>TSubstitution - Missense
FSTL4ENSG00000053108ENST00000265342p.A250Ac.750C>TSubstitution - coding silent
FSHRENSG00000170820ENST00000406846p.L640Lc.1918C>TSubstitution - coding silent
MSH6ENSG00000116062ENST00000234420p.S256Sc.768T>CSubstitution - coding silent
SLC6A3ENSG00000142319ENST00000270349p.F438Fc.1314C>TSubstitution - coding silent
GIMAP5ENSG00000196329ENST00000358647p.I47Ic.141C>TSubstitution - coding silent
ORC3ENSG00000135336ENST00000257789p.V216Vc.648C>TSubstitution - coding silent
RFTN1ENSG00000131378ENST00000334133p.P265Sc.793C>TSubstitution - Missense
FBXL18ENSG00000155034ENST00000382368p.N10Sc.29A>GSubstitution - Missense
ZNF282ENSG00000170265ENST00000262085p.P658Lc.1973C>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.F182Fc.546C>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.S1008Fc.3023C>TSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.G1044Dc.3131G>ASubstitution - Missense
ZNF354BENSG00000178338ENST00000322434p.W28*c.84G>ASubstitution - Nonsense
DDX60ENSG00000137628ENST00000393743p.S1416Fc.4247C>TSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.S1416Fc.4247C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.?c.1282+2T>AUnknown
CHRNA7ENSG00000175344ENST00000454250p.P377Pc.1131C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.S1134Sc.3402C>TSubstitution - coding silent
PCDH20ENSG00000197991ENST00000409186p.R429Cc.1285C>TSubstitution - Missense
RCBTB1ENSG00000136144ENST00000378302p.C122Sc.364T>ASubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.H336Yc.1006C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.?c.70+2T>CUnknown
SELEENSG00000007908ENST00000333360p.G343Rc.1027G>ASubstitution - Missense
B4GALT3ENSG00000158850ENST00000367998p.G360Dc.1079G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.T3369Tc.10107C>TSubstitution - coding silent
CGNENSG00000143375ENST00000271636p.?c.1141-10C>TUnknown
ENST00000445114p.E64Kc.190G>ASubstitution - Missense
CAPS2ENSG00000180881ENST00000328705p.E329Dc.987G>CSubstitution - Missense
XM_371254.3p.?c.7132-5C>TUnknown
RHPN2ENSG00000131941ENST00000400226p.R562Rc.1686G>ASubstitution - coding silent
PLD2ENSG00000129219ENST00000263088p.T569Tc.1707C>TSubstitution - coding silent
FRMD7ENSG00000165694ENST00000298542p.?c.205+10G>AUnknown
FBXW10ENSG00000171931ENST00000395667p.?c.1848-8C>TUnknown
BPIENSG00000101425ENST00000262865p.F332Fc.996C>TSubstitution - coding silent
CACNA2D3ENSG00000157445ENST00000474759p.A315Ac.945C>TSubstitution - coding silent
FRMD4BENSG00000114541ENST00000398540p.P269Lc.806C>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.I1311Vc.3931A>GSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.H100Hc.300C>TSubstitution - coding silent
ENST00000217299p.D536Nc.1606G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.P1394Sc.4180C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P19478Lc.58433C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G24241Rc.72721G>CSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.R834Wc.2500C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.R126*c.376C>TSubstitution - Nonsense
PLB1ENSG00000163803ENST00000422425p.?c.2215-5C>AUnknown
NM_032673.1p.L7Lc.21C>TSubstitution - coding silent
MAP7ENSG00000135525ENST00000354570p.V392Vc.1176T>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E1590Kc.4768G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S3697Lc.11090C>TSubstitution - Missense
CSNK1G2ENSG00000133275ENST00000255641p.S33Lc.98C>TSubstitution - Missense
ENST00000217537p.T1090Mc.3269C>TSubstitution - Missense
BLKENSG00000136573ENST00000259089p.I310Ic.930T>CSubstitution - coding silent
DMC1ENSG00000100206ENST00000216024p.R171Sc.513G>CSubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.S1823Sc.5469C>TSubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.P458Lc.1373C>TSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.F318Vc.952T>GSubstitution - Missense
ENST00000261805p.G484Ec.1451G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.I1351Tc.4052T>CSubstitution - Missense
ZDHHC19ENSG00000163958ENST00000296326p.K116Kc.348G>ASubstitution - coding silent
HUWE1ENSG00000086758ENST00000342160p.E1023Kc.3067G>ASubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.S1010Fc.3029C>TSubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.Y262Yc.786C>TSubstitution - coding silent
ZNF445ENSG00000185219ENST00000396077p.D144Nc.430G>ASubstitution - Missense
TAF9ENSG00000085231ENST00000380822p.V14Ac.41T>CSubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.P243Pc.729G>ASubstitution - coding silent
ADSLENSG00000239900ENST00000216194p.F208Fc.624C>TSubstitution - coding silent
CDH19ENSG00000071991ENST00000262150p.?c.1459-1G>AUnknown
ANKFN1ENSG00000153930ENST00000318698p.R439Qc.1316G>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.G603Dc.1808G>ASubstitution - Missense
ABCG5ENSG00000138075ENST00000260645p.V407Vc.1221C>TSubstitution - coding silent
KCNMB2ENSG00000197584ENST00000358316p.M54Ic.162G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.T922Ic.2765C>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.F182Fc.546C>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368226p.R1200Kc.3599G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.I167Ic.501C>TSubstitution - coding silent
C7orf66ENSG00000205174ENST00000379007p.R71Cc.211C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.T80Ic.239C>TSubstitution - Missense
MYCNENSG00000134323ENST00000281043p.?c.791-7C>TUnknown
PKD1ENSG00000008710ENST00000262304p.R3169Qc.9506G>ASubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.?c.431-7T>CUnknown
MARCH1ENSG00000145416ENST00000503008p.D27Nc.79G>ASubstitution - Missense
HRGENSG00000113905ENST00000232003p.F175Fc.525C>TSubstitution - coding silent
FER1L6ENSG00000214814ENST00000399018p.P1272Lc.3815C>TSubstitution - Missense
ENST00000368577p.A86Tc.256G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.D1458Nc.4372G>ASubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.I1045Tc.3134T>CSubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.V494Ic.1480G>ASubstitution - Missense
ACSBG1ENSG00000103740ENST00000258873p.M532Ic.1596G>ASubstitution - Missense
ENST00000413193_v68p.S223Rc.667A>CSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.?c.1279+4A>GUnknown
PTPN14ENSG00000152104ENST00000366956p.M1151Ic.3453G>ASubstitution - Missense
ENST00000393811p.P448Sc.1342C>TSubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.P296Qc.887C>ASubstitution - Missense
KRTAP5-8ENSG00000241233ENST00000398534p.G25Dc.74G>ASubstitution - Missense
NM_016575.1p.P465Sc.1393C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.?c.523-9C>TUnknown
MTUS2ENSG00000132938ENST00000431530p.M625Ic.1875G>ASubstitution - Missense
HDAC7ENSG00000061273ENST00000080059p.G838Ec.2513G>ASubstitution - Missense
TUFT1ENSG00000143367ENST00000368849p.?c.595-3T>AUnknown
RGMAENSG00000182175ENST00000329082p.I106Vc.316A>GSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.?c.3066+1G>AUnknown
ACSM1ENSG00000166743ENST00000307493p.G368Gc.1104G>ASubstitution - coding silent
TARDBPENSG00000120948ENST00000240185p.A391Ac.1173A>GSubstitution - coding silent
AXDND1ENSG00000162779ENST00000367618p.K817Nc.2451A>CSubstitution - Missense
TMCO4ENSG00000162542ENST00000294543p.S177Sc.531C>TSubstitution - coding silent
USP3ENSG00000140455ENST00000380324p.F183Lc.549T>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P3977Sc.11929C>TSubstitution - Missense
IKZF2ENSG00000030419ENST00000457361p.S407Fc.1220C>TSubstitution - Missense
ENST00000268613_v61p.D278Nc.832G>ASubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.P1524Sc.4570C>TSubstitution - Missense
FN1ENSG00000115414ENST00000354785p.P2194Pc.6582G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000343811p.?c.1155-10C>TUnknown
DDX27ENSG00000124228ENST00000371764p.N31Nc.93C>TSubstitution - coding silent
ADRA1AENSG00000120907ENST00000380572p.G303Ec.908G>ASubstitution - Missense
RBM12B-AS1ENSG00000212998ENST00000391680p.M1Ic.3G>ASubstitution - Missense
PCNTENSG00000160299ENST00000359568p.G2412Sc.7234G>ASubstitution - Missense
ZCCHC2ENSG00000141664ENST00000269499p.T779Pc.2335A>CSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.E936Kc.2806G>ASubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.R507Cc.1519C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.C527*c.1581T>ASubstitution - Nonsense
CTNND2ENSG00000169862ENST00000304623p.S395Sc.1185C>TSubstitution - coding silent
GNEENSG00000159921ENST00000396594p.E18Kc.52G>ASubstitution - Missense
FOXN1ENSG00000109101ENST00000579795p.E156Kc.466G>ASubstitution - Missense
KIAA1328ENSG00000150477ENST00000280020p.P278Tc.832C>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.N459Nc.1377C>TSubstitution - coding silent
NSUN7ENSG00000179299ENST00000316607p.S24Fc.71C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.E336Kc.1006G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.G1056Gc.3168C>ASubstitution - coding silent
NRG1ENSG00000157168ENST00000356819p.R394Kc.1181G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000521670p.R389Kc.1166G>ASubstitution - Missense
PLB1ENSG00000163803ENST00000422425p.I896Ic.2688C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.?c.13831-4C>TUnknown
CDH8ENSG00000150394ENST00000577390p.P171Pc.513C>ASubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.S2416Nc.7247G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.C1856Yc.5567G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.C1856Yc.5567G>ASubstitution - Missense
NM_173495.1p.D558Nc.1672G>ASubstitution - Missense
PRKAG3ENSG00000115592ENST00000233944p.?c.73+5G>AUnknown
RNF150ENSG00000170153ENST00000515673p.?c.987+1G>AUnknown
RNF150ENSG00000170153ENST00000420921p.?c.564+1G>AUnknown
DNAJC13ENSG00000138246ENST00000260818p.L1379Fc.4135C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.S672Fc.2015C>TSubstitution - Missense
ACER2ENSG00000177076ENST00000340967p.?c.642-9C>TUnknown
MAP1BENSG00000131711ENST00000296755p.?c.369+3A>GUnknown
ATRXENSG00000085224ENST00000373344p.A1631Vc.4892C>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.E422Dc.1266G>CSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.I404Ic.1212C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.Q660*c.1978C>TSubstitution - Nonsense
DMC1ENSG00000100206ENST00000216024p.R129Cc.385C>TSubstitution - Missense
BZRAP1ENSG00000005379ENST00000343736p.S1823Sc.5469C>TSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.R2410Gc.7228A>GSubstitution - Missense
IMMP2LENSG00000184903ENST00000331762p.P165Sc.493C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000339750p.S256Sc.768C>TSubstitution - coding silent
C1orf61ENSG00000125462ENST00000357975p.E154Kc.460G>ASubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.D411Nc.1231G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.V359_V363delVRDYVc.1074_1088del15Deletion - In frame
C9orf131ENSG00000174038ENST00000421362p.K896Kc.2688G>ASubstitution - coding silent
STILENSG00000123473ENST00000337817p.S628Fc.1883C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.?c.1123+4A>GUnknown
PROX1ENSG00000117707ENST00000498508p.S376Sc.1128C>TSubstitution - coding silent
KRT2ENSG00000172867ENST00000309680p.L66Fc.196C>TSubstitution - Missense
PACSIN3ENSG00000165912ENST00000298838p.M221Tc.662T>CSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.I467Ic.1401C>TSubstitution - coding silent
EPHB2ENSG00000133216ENST00000374627p.E384Kc.1150G>ASubstitution - Missense
STK32CENSG00000165752ENST00000298630p.F160Fc.480C>TSubstitution - coding silent
KIF7ENSG00000166813ENST00000394412p.R1260fs*26c.3778_3779insCInsertion - Frameshift
OR4K14ENSG00000169484ENST00000305045p.S208Fc.623C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.T3410Tc.10230G>ASubstitution - coding silent
AP4B1ENSG00000134262ENST00000369569p.R376Kc.1127G>ASubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.P686Lc.2057C>TSubstitution - Missense
ENST00000355015p.I45Ic.135C>TSubstitution - coding silent
RPL10LENSG00000165496ENST00000298283p.P192Lc.575C>TSubstitution - Missense
PCSK6ENSG00000140479ENST00000348070p.I207Lc.619A>CSubstitution - Missense
ESR2ENSG00000140009ENST00000554572p.L228Lc.684T>ASubstitution - coding silent
IGDCC4ENSG00000103742ENST00000352385p.G1117Gc.3351G>ASubstitution - coding silent
LTKENSG00000062524ENST00000355166p.L791Lc.2373C>TSubstitution - coding silent
XPNPEP2ENSG00000122121ENST00000371106p.G30Ec.89G>ASubstitution - Missense
ARMC1ENSG00000104442ENST00000276569p.H148Rc.443A>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.?c.4873-10C>TUnknown
DNAH9ENSG00000007174ENST00000262442p.F2543Fc.7629C>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.?c.2440-9C>TUnknown
TYK2ENSG00000105397ENST00000525621p.?c.1774-4G>AUnknown
AIPL1ENSG00000129221ENST00000381129p.G30Ec.89G>ASubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.E408Kc.1222G>ASubstitution - Missense
RNF152ENSG00000176641ENST00000312828p.P95Sc.283C>TSubstitution - Missense
FRMD7ENSG00000165694ENST00000298542p.P492Sc.1474C>TSubstitution - Missense
IRS4ENSG00000133124ENST00000372129p.V147Vc.441G>ASubstitution - coding silent
FAM217BENSG00000196227ENST00000358293p.D157Nc.469G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.Q853*c.2557C>TSubstitution - Nonsense
ANKRD18AENSG00000180071ENST00000399703p.S878Cc.2633C>GSubstitution - Missense
ENST00000360228_v70p.E408Kc.1222G>ASubstitution - Missense
FBXW9ENSG00000132004ENST00000393261p.P41Lc.122C>TSubstitution - Missense
NM_020777.1p.V301Vc.903G>ASubstitution - coding silent
SEC14L5ENSG00000103184ENST00000251170p.E255Qc.763G>CSubstitution - Missense
UGT2B7ENSG00000171234ENST00000305231p.G300Ec.899G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.R1074Rc.3222C>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.P3448Lc.10343C>TSubstitution - Missense
DNAAF3ENSG00000167646ENST00000455045p.P8Lc.23C>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.A563Ac.1689C>TSubstitution - coding silent
BPIFCENSG00000184459ENST00000397452p.W491*c.1472G>ASubstitution - Nonsense
EHD3ENSG00000013016ENST00000322054p.K269Kc.807G>ASubstitution - coding silent
GSTCDENSG00000138780ENST00000515279p.S366Sc.1098C>TSubstitution - coding silent
ANXA5ENSG00000164111ENST00000296511p.?c.475-1G>AUnknown
ANKRD28ENSG00000206560ENST00000399451p.G120Ec.359G>ASubstitution - Missense
GRIN2DENSG00000105464ENST00000263269p.G630Rc.1888G>ASubstitution - Missense
LRG1ENSG00000171236ENST00000306390p.V146Ic.436G>ASubstitution - Missense
FASTKD3ENSG00000124279ENST00000264669p.T124Ic.371C>TSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.S2598Lc.7793C>TSubstitution - Missense
FAM184AENSG00000111879ENST00000338891p.E770Kc.2308G>ASubstitution - Missense
KMT2EENSG00000005483ENST00000257745p.P1630Lc.4889C>TSubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.E920Kc.2758G>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.G701Ec.2102G>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.T599Ic.1796C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.Q16Qc.48G>ASubstitution - coding silent
CABIN1ENSG00000099991ENST00000398319p.S1091Fc.3272C>TSubstitution - Missense
WIZENSG00000011451ENST00000263381p.T150Ic.449C>TSubstitution - Missense
TRA2BENSG00000136527ENST00000453386p.S77_H78insRSc.219_220insCGCTCCInsertion - In frame
CPEENSG00000109472ENST00000402744p.Y130Hc.388T>CSubstitution - Missense
ZSCAN21ENSG00000166529ENST00000543588p.P158Pc.474G>ASubstitution - coding silent
KIR2DL3ENSG00000243772ENST00000434419p.G283Ec.848G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.T405Tc.1215C>TSubstitution - coding silent
ZNF618ENSG00000157657ENST00000288466p.T405Tc.1215C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.S3697Lc.11090C>TSubstitution - Missense
NPDC1ENSG00000107281ENST00000371600p.A118Ac.354C>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.R357Cc.1069C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.?c.1123+4A>GUnknown
TMEM116ENSG00000198270ENST00000354825p.Q177Qc.531G>ASubstitution - coding silent
TMEM116ENSG00000198270ENST00000354825p.H133Qc.399C>GSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.D247Nc.739G>ASubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.R1107Rc.3321G>TSubstitution - coding silent
ADAMTS7ENSG00000136378ENST00000388820p.P1622Lc.4865C>TSubstitution - Missense
TM6SF1ENSG00000136404ENST00000322019p.E370Kc.1108G>ASubstitution - Missense
ENST00000300053p.R747fs*26c.2239_2240insCInsertion - Frameshift
LZTS2ENSG00000107816ENST00000370220p.P313Lc.938C>TSubstitution - Missense
METTL13ENSG00000010165ENST00000361735p.G153Gc.459C>TSubstitution - coding silent
RARRES3ENSG00000133321ENST00000255688p.F17Fc.51C>TSubstitution - coding silent
ETV6ENSG00000139083ENST00000396373p.P214Sc.640C>TSubstitution - Missense
GRIP1ENSG00000155974ENST00000398016p.K393Kc.1179G>ASubstitution - coding silent
C1orf168ENSG00000187889ENST00000343433p.?c.1880+5G>AUnknown
TYRO3ENSG00000092445ENST00000263798p.?c.1753+8C>TUnknown
CILPENSG00000138615ENST00000261883p.P140Lc.419C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.A4547Tc.13639G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.E1269Qc.3805G>CSubstitution - Missense
ZNF484ENSG00000127081ENST00000375495p.R90Wc.268A>TSubstitution - Missense
DIRAS1ENSG00000176490ENST00000323469p.S174Sc.522C>TSubstitution - coding silent
LINGO2ENSG00000174482ENST00000379992p.R507Cc.1519C>TSubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.L182Lc.546C>TSubstitution - coding silent
NUGGCENSG00000189233ENST00000413272p.?c.1770-6C>TUnknown
NBNENSG00000104320ENST00000265433p.G206Ec.617G>ASubstitution - Missense
KIF18AENSG00000121621ENST00000263181p.?c.1712+1G>AUnknown
PCSK6ENSG00000140479ENST00000348070p.G553Ec.1658G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.Q1603Qc.4809G>ASubstitution - coding silent
DCST1ENSG00000163357ENST00000295542p.V359_V363delVRDYVc.1074_1088del15Deletion - In frame
SPTBENSG00000070182ENST00000542895p.Q167Qc.501G>ASubstitution - coding silent
MAPTENSG00000186868ENST00000262410p.S669Sc.2007G>ASubstitution - coding silent
XRCC5ENSG00000079246ENST00000392133p.M210Tc.629T>CSubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.G585Ec.1754G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.V1420Ic.4258G>ASubstitution - Missense
DSN1ENSG00000149636ENST00000373750p.S203Tc.607T>ASubstitution - Missense
ITIH4ENSG00000055955ENST00000266041p.G917Gc.2751G>TSubstitution - coding silent
NUGGCENSG00000189233ENST00000341513p.?c.1770-6C>TUnknown
ENST00000273600p.Q946*c.2836C>TSubstitution - Nonsense
CYP3A7ENSG00000160870ENST00000336374p.T138Ac.412A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.W9446*c.28337G>ASubstitution - Nonsense
ZNF600ENSG00000189190ENST00000338230p.E36Kc.106G>ASubstitution - Missense
GSTCDENSG00000138780ENST00000394730p.S279Sc.837C>TSubstitution - coding silent
CDS1ENSG00000163624ENST00000295887p.G264Rc.790G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S3712Lc.11135C>TSubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.S139Sc.417C>TSubstitution - coding silent
ENST00000380389p.R129Hc.386G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.I154Tc.461T>CSubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.?c.2092-7C>TUnknown
ENST00000306096p.P168Lc.503C>TSubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.G290Gc.870G>ASubstitution - coding silent
ENST00000342288p.S348Fc.1043C>TSubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.?c.951+5G>AUnknown
MAP2K2ENSG00000126934ENST00000262948p.R281Lc.842G>TSubstitution - Missense
ANKLE1ENSG00000160117ENST00000404261p.?c.1675+4G>AUnknown
PLIN4ENSG00000167676ENST00000301286p.A202Ac.606C>TSubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.A130Ac.390C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.G96Rc.286G>ASubstitution - Missense
TSEN34ENSG00000170892ENST00000429671p.T67Ic.200C>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.A568Ac.1704C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.E5371Ec.16113A>GSubstitution - coding silent
RALGDSENSG00000160271ENST00000393157p.K420Kc.1260G>ASubstitution - coding silent
CERS3ENSG00000154227ENST00000284382p.R111Cc.331C>TSubstitution - Missense
ENST00000318252p.S1798Lc.5393C>TSubstitution - Missense
NOL8ENSG00000198000ENST00000442668p.R483Hc.1448G>ASubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.P164Sc.490C>TSubstitution - Missense
SUGT1ENSG00000165416ENST00000310528p.C122Yc.365G>ASubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.?c.1714+6G>AUnknown
LRRC63ENSG00000173988ENST00000446175p.A301Gc.902C>GSubstitution - Missense
ZC3H13ENSG00000123200ENST00000282007p.R743Qc.2228G>ASubstitution - Missense
HTR2AENSG00000102468ENST00000378688p.A416Dc.1247C>ASubstitution - Missense
OR10J3ENSG00000196266ENST00000332217p.K262Kc.786G>ASubstitution - coding silent
P2RY2ENSG00000175591ENST00000393596p.F307Fc.921C>TSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.P296Qc.887C>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.E577Ec.1731G>ASubstitution - coding silent
PPP1CAENSG00000172531ENST00000376745p.S207Sc.621T>CSubstitution - coding silent
RNF17ENSG00000132972ENST00000255324p.V1259Vc.3777A>GSubstitution - coding silent
PPHLN1ENSG00000134283ENST00000395580p.E263Kc.787G>ASubstitution - Missense
ENST00000335883p.K670Rc.2009A>GSubstitution - Missense
CCDC60ENSG00000183273ENST00000327554p.I407Ic.1221C>TSubstitution - coding silent
KDM4AENSG00000066135ENST00000372396p.E375Dc.1125A>CSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.T2527Tc.7581C>TSubstitution - coding silent
AMY1CENSG00000187733ENST00000370079p.W331*c.993G>ASubstitution - Nonsense
PSMA5ENSG00000143106ENST00000271308p.Q41*c.121C>TSubstitution - Nonsense
ALDH4A1ENSG00000159423ENST00000375341p.F203Fc.609C>TSubstitution - coding silent
PCSK6ENSG00000140479ENST00000344273p.G553Ec.1658G>ASubstitution - Missense
SYT16ENSG00000139973ENST00000430451p.E308Kc.922G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.P3910Sc.11728C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S1584Fc.4751C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G1213Ec.3638G>ASubstitution - Missense
TMC7ENSG00000170537ENST00000304381p.L295Lc.883C>TSubstitution - coding silent
LAMC2ENSG00000058085ENST00000264144p.G596Ec.1787G>ASubstitution - Missense
ENST00000375552_v65p.?c.1808-3C>GUnknown
FLGENSG00000143631ENST00000368799p.G1139fs*47c.3416delGDeletion - Frameshift
SPTBENSG00000070182ENST00000389722p.Q167Qc.501G>ASubstitution - coding silent
LTKENSG00000062524ENST00000263800p.L852Lc.2556C>TSubstitution - coding silent
AGXT2ENSG00000113492ENST00000231420p.?c.362+9C>TUnknown
GLG1ENSG00000090863ENST00000205061p.R427Qc.1280G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S1584Fc.4751C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.Y4851Yc.14553C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P4737Lc.14210C>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.S24Fc.71C>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.K944Kc.2832G>ASubstitution - coding silent
CLTAENSG00000122705ENST00000242285p.A167Gc.500C>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000400316p.?c.361-8C>TUnknown
PLECENSG00000178209ENST00000436759p.R1123Rc.3369C>TSubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.P896Sc.2686C>TSubstitution - Missense
UBE2WENSG00000104343ENST00000419880p.Q27Qc.81A>GSubstitution - coding silent
MYT1ENSG00000196132ENST00000328439p.S559Nc.1676G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.G1056Gc.3168C>ASubstitution - coding silent
PP2D1ENSG00000183977ENST00000389050p.G374Ec.1121G>ASubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.?c.2248-5C>AUnknown
NLRP4ENSG00000160505ENST00000587891p.P903Sc.2707C>TSubstitution - Missense
PCGF1ENSG00000115289ENST00000233630p.L19Lc.57C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.C1856*c.5568T>ASubstitution - Nonsense
PLGENSG00000122194ENST00000308192p.V792Vc.2376C>TSubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.P413Sc.1237C>TSubstitution - Missense
CLIP2ENSG00000106665ENST00000223398p.L595Lc.1783C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000544262p.G82Ec.245G>ASubstitution - Missense
ENST00000328380p.R1215Qc.3644G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.Y1282Yc.3846T>CSubstitution - coding silent
ZNF682ENSG00000197124ENST00000397165p.P146Sc.436C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.?c.595-10C>TUnknown
FHDC1ENSG00000137460ENST00000260008p.K224Kc.672G>ASubstitution - coding silent
MAGEA4ENSG00000147381ENST00000276344p.M212Ic.636G>ASubstitution - Missense
FATE1ENSG00000147378ENST00000370350p.K76Kc.228G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000324771p.C287fs*36c.859delTDeletion - Frameshift
OR2F1ENSG00000213215ENST00000392899p.Y123Sc.368A>CSubstitution - Missense
ENST00000316490_v65p.G2289Ec.6866G>ASubstitution - Missense
ENST00000316490_v65p.?c.8674-10C>TUnknown
MAGEC3ENSG00000165509ENST00000544766p.P197Rc.590C>GSubstitution - Missense
CEACAM5ENSG00000105388ENST00000221992p.T646Rc.1937C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
PSG4ENSG00000243137ENST00000244295p.T292Nc.875C>ASubstitution - Missense
LMBR1ENSG00000105983ENST00000353442p.S339Fc.1016C>TSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.T574Tc.1722A>TSubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.T574Tc.1722A>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251377p.S401Fc.1202C>TSubstitution - Missense
ENST00000328843_v70p.E1771Kc.5311G>ASubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.R1014Rc.3042G>ASubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.?c.1015+7C>TUnknown
MIPOL1ENSG00000151338ENST00000545536p.I236Mc.708A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.R655Rc.1965G>ASubstitution - coding silent
BAIAP3ENSG00000007516ENST00000397488p.K804Kc.2412G>ASubstitution - coding silent
STRADBENSG00000082146ENST00000392249p.V169Ec.506T>ASubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.Q944Hc.2832A>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000339750p.A153Vc.458C>TSubstitution - Missense
ARL11ENSG00000152213ENST00000282026p.W170*c.510G>ASubstitution - Nonsense
ENOX1ENSG00000120658ENST00000261488p.?c.1714+6G>AUnknown
OR10J5ENSG00000184155ENST00000334857p.S242Fc.725C>TSubstitution - Missense
ZIC5ENSG00000139800ENST00000267294p.?c.1550-1G>AUnknown
ADCY10ENSG00000143199ENST00000367851p.Q1250Qc.3750G>ASubstitution - coding silent
TMC5ENSG00000103534ENST00000396229p.S140Fc.419C>TSubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.L116Lc.346C>TSubstitution - coding silent
PSG9ENSG00000183668ENST00000270077p.G376Rc.1126G>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.G716Rc.2146G>ASubstitution - Missense
OR4A16ENSG00000181961ENST00000314721p.I242Ic.726C>TSubstitution - coding silent
SLC25A39ENSG00000013306ENST00000377095p.?c.692-6C>TUnknown
ARHGEF4ENSG00000136002ENST00000355771p.V125Vc.375G>ASubstitution - coding silent
TMEM242ENSG00000215712ENST00000367144p.A82Gc.245C>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.R1217Rc.3651G>ASubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.R352Wc.1054C>TSubstitution - Missense
ZSCAN21ENSG00000166529ENST00000543588p.S159Nc.476G>ASubstitution - Missense
KRT37ENSG00000108417ENST00000225550p.R156Cc.466C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.S1320Sc.3960C>TSubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.Q756*c.2266C>TSubstitution - Nonsense
DUSP10ENSG00000143507ENST00000366899p.I174Vc.520A>GSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.L71Lc.211C>TSubstitution - coding silent
TEKT2ENSG00000092850ENST00000207457p.D376Ec.1128C>GSubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.V457fs*7c.1366delCDeletion - Frameshift
ENST00000438990p.R353Rc.1059G>ASubstitution - coding silent
TSPAN8ENSG00000127324ENST00000247829p.M67Ic.201G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.L135Mc.403C>ASubstitution - Missense
CYP4B1ENSG00000142973ENST00000271153p.L20Lc.58C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.Y4851Yc.14553C>TSubstitution - coding silent
FAM83GENSG00000188522ENST00000345041p.G398Ec.1193G>ASubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.L335Fc.1003C>TSubstitution - Missense
RBM28ENSG00000106344ENST00000223073p.S485Sc.1455C>TSubstitution - coding silent
GLIS3ENSG00000107249ENST00000381971p.V560Vc.1680C>TSubstitution - coding silent
FAM65CENSG00000042062ENST00000327979p.I945fs*>2c.2834delTDeletion - Frameshift
TRPM3ENSG00000083067ENST00000377106p.L1383Vc.4147C>GSubstitution - Missense
PYCR1ENSG00000183010ENST00000337943p.E81Kc.241G>ASubstitution - Missense
SECTM1ENSG00000141574ENST00000269389p.S25Sc.75C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.P3289Lc.9866C>TSubstitution - Missense
UBE2WENSG00000104343ENST00000419880p.Q27Qc.81A>GSubstitution - coding silent
TECPR1ENSG00000205356ENST00000379795p.Q803*c.2407C>TSubstitution - Nonsense
BTDENSG00000169814ENST00000303498p.P73Pc.219T>GSubstitution - coding silent
REG3AENSG00000172016ENST00000393878p.F55Yc.164T>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2606Fc.7817C>TSubstitution - Missense
CNBPENSG00000169714ENST00000422453p.D110Dc.330C>TSubstitution - coding silent
PTPN18ENSG00000072135ENST00000175756p.R235*c.703C>TSubstitution - Nonsense
CARD8ENSG00000105483ENST00000391898p.P314Sc.940C>TSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.S169Sc.507T>CSubstitution - coding silent
DMRT2ENSG00000173253ENST00000302441p.E320Kc.958G>ASubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.F285Fc.855C>TSubstitution - coding silent
DIAPH1ENSG00000131504ENST00000398557p.P719Sc.2155C>TSubstitution - Missense
ZSCAN21ENSG00000166529ENST00000292450p.P158Pc.474G>ASubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.F1033Fc.3099C>TSubstitution - coding silent
KDRENSG00000128052ENST00000263923p.E979Vc.2936A>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.F247Sc.740T>CSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.P1529Pc.4587G>ASubstitution - coding silent
GP5ENSG00000178732ENST00000323007p.S87Sc.261C>TSubstitution - coding silent
ESR2ENSG00000140009ENST00000357782p.L228Lc.684T>ASubstitution - coding silent
HHATENSG00000054392ENST00000391905p.M311Tc.932T>CSubstitution - Missense
PLB1ENSG00000163803ENST00000329020p.?c.1312-5C>AUnknown
ORC3ENSG00000135336ENST00000417380p.V163Vc.489C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.T1031Ic.3092C>TSubstitution - Missense
GSNENSG00000148180ENST00000436847p.T346Tc.1038C>TSubstitution - coding silent
ENST00000358674p.R402Cc.1204C>TSubstitution - Missense
OR4X2ENSG00000172208ENST00000302329p.S209Fc.626C>TSubstitution - Missense
KRT81ENSG00000205426ENST00000327741p.S16Lc.47C>TSubstitution - Missense
STK32CENSG00000165752ENST00000368625p.Q174*c.520C>TSubstitution - Nonsense
FAM111BENSG00000189057ENST00000343597p.R355*c.1063C>TSubstitution - Nonsense
OTUD7AENSG00000169918ENST00000307050p.A557Dc.1670C>ASubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.D811Nc.2431G>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.P348Pc.1044C>TSubstitution - coding silent
ZNF691ENSG00000164011ENST00000372506p.H139Hc.417C>TSubstitution - coding silent
MYO3AENSG00000095777ENST00000265944p.E898Kc.2692G>ASubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.I94Ic.282C>TSubstitution - coding silent
GH2ENSG00000136487ENST00000332800p.L108Lc.324C>TSubstitution - coding silent
ZNF878ENSG00000257446ENST00000602107p.F199Lc.595T>CSubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.N459Nc.1377C>TSubstitution - coding silent
ENST00000262719_v68p.?c.1900-8C>TUnknown
IRF8ENSG00000140968ENST00000268638p.E167Kc.499G>ASubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.L362Fc.1084C>TSubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.H361Qc.1083C>ASubstitution - Missense
OR5H14ENSG00000236032ENST00000437310p.I146Ic.438C>TSubstitution - coding silent
ZNF667ENSG00000198046ENST00000342634p.P247Sc.739C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2675Fc.8024C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.R3139Qc.9416G>ASubstitution - Missense
NM_173823.1p.L762Fc.2284C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G2162Ec.6485G>ASubstitution - Missense
RSPH6AENSG00000104941ENST00000221538p.Q65Qc.195A>GSubstitution - coding silent
TPRXLENSG00000180438ENST00000326972p.S61_S64delSSSSc.171_182del12Deletion - In frame
ABCA7ENSG00000064687ENST00000263094p.R286Hc.857G>ASubstitution - Missense
SCAPENSG00000114650ENST00000265565p.A460Vc.1379C>TSubstitution - Missense
SAMD12ENSG00000177570ENST00000314727p.H7Yc.19C>TSubstitution - Missense
ENST00000324309p.S224Fc.671C>TSubstitution - Missense
SU_CaMK1bp.Q325Qc.975G>ASubstitution - coding silent
ZNF3ENSG00000166526ENST00000299667p.T165Tc.495C>TSubstitution - coding silent
NOBOXENSG00000106410ENST00000467773p.D17Ec.51C>ASubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.V119Ic.355G>ASubstitution - Missense
OR5AK2ENSG00000181273ENST00000326855p.G44Rc.130G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.L2097Lc.6291C>TSubstitution - coding silent
ECE1ENSG00000117298ENST00000264205p.P693Pc.2079C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000417684p.Y45fs*1c.135delTDeletion - Frameshift
SLCO1C1ENSG00000139155ENST00000266509p.?c.272-1G>AUnknown
CORINENSG00000145244ENST00000273857p.P344Sc.1030C>TSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.?c.7484-6C>TUnknown
SLCO1C1ENSG00000139155ENST00000381552p.G725Ec.2174G>ASubstitution - Missense
C1orf61ENSG00000125462ENST00000368243p.E141Kc.421G>ASubstitution - Missense
ENST00000268134p.?c.70+2T>CUnknown
DAGLAENSG00000134780ENST00000257215p.S37Sc.111C>TSubstitution - coding silent
ENST00000414575p.D840Nc.2518G>ASubstitution - Missense
FMO4ENSG00000076258ENST00000367749p.L271Sc.812T>CSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.P1850Pc.5550C>TSubstitution - coding silent
ANKK1ENSG00000170209ENST00000303941p.?c.481-10C>TUnknown
TMEM132BENSG00000139364ENST00000299308p.P884Sc.2650C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.R818Rc.2454G>ASubstitution - coding silent
CATSPERBENSG00000133962ENST00000256343p.R938Rc.2814G>ASubstitution - coding silent
CARD6ENSG00000132357ENST00000254691p.V301Ac.902T>CSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.Y1219fs*1c.3657delTDeletion - Frameshift
C7ENSG00000112936ENST00000313164p.E241Kc.721G>ASubstitution - Missense
ARHGAP27ENSG00000159314ENST00000376922p.G11Gc.33G>ASubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.D411Nc.1231G>ASubstitution - Missense
NM_003319p.P3785Sc.11353C>TSubstitution - Missense
ENST00000344648p.L622Lc.1866A>CSubstitution - coding silent
PTH2RENSG00000144407ENST00000272847p.?c.982-5T>AUnknown
POLR2AENSG00000181222ENST00000322644p.H87Hc.261C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377105p.L1370Vc.4108C>GSubstitution - Missense
ZNF791ENSG00000173875ENST00000343325p.T257Ac.769A>GSubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.L112Lc.334C>TSubstitution - coding silent
LRCH3ENSG00000186001ENST00000438796p.P517Sc.1549C>TSubstitution - Missense
C22orf24ENSG00000128254ENST00000543051p.L123Lc.369G>ASubstitution - coding silent
ENST00000344132p.A224Sc.670G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S3712Lc.11135C>TSubstitution - Missense
TMEM242ENSG00000215712ENST00000400788p.A82Gc.245C>GSubstitution - Missense
ERCC3ENSG00000163161ENST00000285398p.S764Lc.2291C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.A3Tc.7G>ASubstitution - Missense
ZNF711ENSG00000147180ENST00000373165p.P517Sc.1549C>TSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.D13Dc.39C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.L298Lc.894C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.D1458Nc.4372G>ASubstitution - Missense
ENST00000446175_v65p.R55Cc.163C>TSubstitution - Missense
AGAP2ENSG00000135439ENST00000547588p.F426Lc.1278C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.E619Ec.1857G>ASubstitution - coding silent
IQGAP1ENSG00000140575ENST00000268182p.E1480Kc.4438G>ASubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.M334Ic.1002G>ASubstitution - Missense
PGDENSG00000142657ENST00000270776p.R447Qc.1340G>ASubstitution - Missense
ALDH4A1ENSG00000159423ENST00000290597p.F203Fc.609C>TSubstitution - coding silent
GPRC5AENSG00000013588ENST00000014914p.L230Lc.688C>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.F52Fc.156C>TSubstitution - coding silent
ENST00000343811_v68p.?c.1155-10C>TUnknown
KCNB1ENSG00000158445ENST00000371741p.C710Sc.2129G>CSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.F152Lc.454T>CSubstitution - Missense
SPATC1LENSG00000160284ENST00000330205p.I76Ic.228C>TSubstitution - coding silent
KIAA1328ENSG00000150477ENST00000280020p.E356Qc.1066G>CSubstitution - Missense
CX3CL1ENSG00000006210ENST00000006053p.T115Tc.345C>TSubstitution - coding silent
NM_003319p.W9254*c.27761G>ASubstitution - Nonsense
ZSCAN5BENSG00000197213ENST00000358992p.E322Dc.966A>TSubstitution - Missense
CDC42EP4ENSG00000179604ENST00000335793p.D231Dc.693C>TSubstitution - coding silent
FUT6ENSG00000156413ENST00000286955p.D163Nc.487G>ASubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.S882Fc.2645C>TSubstitution - Missense
MPHOSPH10ENSG00000124383ENST00000244230p.S359Sc.1077C>TSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.P1456Sc.4366C>TSubstitution - Missense
GMPPAENSG00000144591ENST00000341142p.A251Tc.751G>ASubstitution - Missense
PNKDENSG00000127838ENST00000273077p.I124Ic.372C>TSubstitution - coding silent
DESENSG00000175084ENST00000373960p.D379Nc.1135G>ASubstitution - Missense
WBP2NLENSG00000183066ENST00000329620p.G251Ec.752G>ASubstitution - Missense
TRHENSG00000170893ENST00000302649p.R232Qc.695G>ASubstitution - Missense
ENST00000373468p.S799Lc.2396C>TSubstitution - Missense
NME6ENSG00000172113ENST00000421967p.W59Cc.177G>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.K1260Rc.3779A>GSubstitution - Missense
NM_021998.2p.P527Sc.1579C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.E954Kc.2860G>ASubstitution - Missense
ENST00000346816p.E831Kc.2491G>ASubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.P585Pc.1755G>ASubstitution - coding silent
TSPAN13ENSG00000106537ENST00000262067p.I59Ic.177T>CSubstitution - coding silent
SLC2A10ENSG00000197496ENST00000359271p.G57Gc.171G>ASubstitution - coding silent
WWC1ENSG00000113645ENST00000265293p.L343Fc.1027C>TSubstitution - Missense
HHATENSG00000054392ENST00000545154p.M312Tc.935T>CSubstitution - Missense
ZNF550ENSG00000251369ENST00000457177p.K148Kc.444G>ASubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.I211Ic.633C>TSubstitution - coding silent
ARHGAP27ENSG00000159314ENST00000428638p.G352Gc.1056G>ASubstitution - coding silent
EPHA7ENSG00000135333ENST00000369303p.G704Rc.2110G>CSubstitution - Missense
ENST00000378024_v70p.D4610Dc.13830C>TSubstitution - coding silent
SORCS2ENSG00000184985ENST00000507866p.V451Vc.1353G>ASubstitution - coding silent
PHKA1ENSG00000067177ENST00000373539p.D1059Ec.3177T>GSubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.Q657*c.1969C>TSubstitution - Nonsense
ENSG00000180574ENST00000538173p.S55Sc.165C>TSubstitution - coding silent
NEK5ENSG00000197168ENST00000355568p.?c.1480-4A>GUnknown
ZDHHC19ENSG00000163958ENST00000296326p.G57Gc.171G>ASubstitution - coding silent
PPFIA2ENSG00000139220ENST00000549396p.L343Fc.1027C>TSubstitution - Missense
C1orf61ENSG00000125462ENST00000368242p.W172*c.516G>ASubstitution - Nonsense
KIAA0319LENSG00000142687ENST00000325722p.K670Rc.2009A>GSubstitution - Missense
NM_015401.1p.G799Ec.2396G>ASubstitution - Missense
FASLGENSG00000117560ENST00000367721p.L251Fc.751C>TSubstitution - Missense
F5ENSG00000198734ENST00000367797p.V1770Ic.5308G>ASubstitution - Missense
CSDE1ENSG00000009307ENST00000369530p.S710_V717delSKKLFFHVc.2129_2152del24Deletion - In frame
SZT2ENSG00000198198ENST00000372442p.T2527Tc.7581C>TSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.P513Lc.1538C>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.A623Tc.1867G>ASubstitution - Missense
PRLRENSG00000113494ENST00000382002p.P198Lc.593C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.D390Nc.1168G>ASubstitution - Missense
OSBPL7ENSG00000006025ENST00000007414p.?c.201+5G>AUnknown
MYO15AENSG00000091536ENST00000205890p.P1046Lc.3137C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.S802Fc.2405C>TSubstitution - Missense
POLR1CENSG00000171453ENST00000304004p.N74Sc.221A>GSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.T498Tc.1494C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.G96Rc.286G>ASubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369041p.D837Vc.2510A>TSubstitution - Missense
KIAA1328ENSG00000150477ENST00000591619p.P274Tc.820C>ASubstitution - Missense
PRLRENSG00000113494ENST00000231423p.P198Lc.593C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.C1856Yc.5567G>ASubstitution - Missense
WNT2ENSG00000105989ENST00000265441p.G130Ec.389G>ASubstitution - Missense
C1orf65ENSG00000178395ENST00000366875p.M437Tc.1310T>CSubstitution - Missense
ART1ENSG00000129744ENST00000250693p.P245Lc.734C>TSubstitution - Missense
ACRV1ENSG00000134940ENST00000533904p.T186Ac.556A>GSubstitution - Missense
C12orf36ENSG00000180861ENST00000318426p.?c.183-6C>TUnknown
ENST00000342887p.?c.1750-1G>AUnknown
PDS5BENSG00000083642ENST00000315596p.R1392Cc.4174C>TSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.K108Kc.324G>ASubstitution - coding silent
MYH11ENSG00000133392ENST00000396324p.E1754Kc.5260G>ASubstitution - Missense
CCDC67ENSG00000165325ENST00000298050p.M417Ic.1251G>ASubstitution - Missense
KCNN3ENSG00000143603ENST00000271915p.R109Kc.326G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.A623Tc.1867G>ASubstitution - Missense
C2CD4BENSG00000205502ENST00000380392p.S325Sc.975G>CSubstitution - coding silent
TSPAN1ENSG00000117472ENST00000372003p.R209Qc.626G>ASubstitution - Missense
FAM214BENSG00000005238ENST00000378557p.P529Sc.1585C>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.S24Fc.71C>TSubstitution - Missense
NM_015461.1p.P396Lc.1187C>TSubstitution - Missense
GCENSG00000145321ENST00000504199p.P171Sc.511C>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.F24Lc.72C>ASubstitution - Missense
NUP153ENSG00000124789ENST00000262077p.I943Vc.2827A>GSubstitution - Missense
AXIN1ENSG00000103126ENST00000262320p.N307Sc.920A>GSubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.V501Vc.1503C>TSubstitution - coding silent
ALKENSG00000171094ENST00000389048p.V712Gc.2135T>GSubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.S141Fc.422C>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.D562Nc.1684G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.D487Nc.1459G>ASubstitution - Missense
ARSHENSG00000205667ENST00000381130p.I357Ic.1071C>TSubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.?c.573-1G>CUnknown
SH3BP4ENSG00000130147ENST00000344528p.P927Sc.2779C>TSubstitution - Missense
CCDC146ENSG00000135205ENST00000285871p.E12Ec.36G>ASubstitution - coding silent
COL26A1ENSG00000160963ENST00000397927p.P254Lc.761C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.E443Kc.1327G>ASubstitution - Missense
MOV10L1ENSG00000073146ENST00000262794p.V837Ac.2510T>CSubstitution - Missense
MOV10L1ENSG00000073146ENST00000540615p.V817Ac.2450T>CSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.S659Lc.1976C>TSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.K189Kc.567G>ASubstitution - coding silent
TLE1ENSG00000196781ENST00000376499p.C589Rc.1765T>CSubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.T212Tc.636A>GSubstitution - coding silent
ASB10ENSG00000146926ENST00000275838p.G65Ec.194G>ASubstitution - Missense
RIPPLY2ENSG00000203877ENST00000369689p.E127Kc.379G>ASubstitution - Missense
FAM115AENSG00000198420ENST00000355951p.?c.2168-4C>TUnknown
RIMS2ENSG00000176406ENST00000436393p.A1235Vc.3704C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.A1031Vc.3092C>TSubstitution - Missense
ZNF70ENSG00000187792ENST00000341976p.G24Ec.71G>ASubstitution - Missense
ENST00000291449p.?c.1555+4G>AUnknown
SCN7AENSG00000136546ENST00000409855p.L163Lc.489C>TSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.L1023Lc.3069A>GSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.R1096Rc.3288C>TSubstitution - coding silent
TMEM116ENSG00000198270ENST00000552374p.H225Qc.675C>GSubstitution - Missense
KIAA1328ENSG00000150477ENST00000586135p.E72Qc.214G>CSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.E1096Kc.3286G>ASubstitution - Missense
CECR1ENSG00000093072ENST00000330232p.E254Kc.760G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.E1133Kc.3397G>ASubstitution - Missense
ENSG00000180574ENST00000322446p.S55Sc.165C>TSubstitution - coding silent
C15orf27ENSG00000169758ENST00000388942p.?c.768+1G>AUnknown
PMLENSG00000140464ENST00000268058p.G683Gc.2049C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.S2675Fc.8024C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.P3311Lc.9932C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.P3297Lc.9890C>TSubstitution - Missense
SAMD12ENSG00000177570ENST00000409003p.H7Yc.19C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.C527*c.1581T>ASubstitution - Nonsense
ZFHX4ENSG00000091656ENST00000050961p.E465Ec.1395A>GSubstitution - coding silent
C8orf34ENSG00000165084ENST00000523686p.?c.217+7G>AUnknown
SVEP1ENSG00000165124ENST00000302728p.Q660*c.1978C>TSubstitution - Nonsense
NUP214ENSG00000126883ENST00000451030p.E710Vc.2129A>TSubstitution - Missense
AQP7ENSG00000165269ENST00000379507p.L181Lc.543C>TSubstitution - coding silent
AQP7ENSG00000165269ENST00000539936p.L182Lc.546C>TSubstitution - coding silent
AQP7ENSG00000165269ENST00000379503p.L118Lc.354C>TSubstitution - coding silent
AQP7ENSG00000165269ENST00000541274p.P51Sc.151C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.E953Kc.2857G>ASubstitution - Missense
MAGEB16ENSG00000189023ENST00000399992p.D45Nc.133G>ASubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.S268Fc.803C>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.E1230Kc.3688G>ASubstitution - Missense
VAX2ENSG00000116035ENST00000234392p.S218Fc.653C>TSubstitution - Missense
HIGD2BENSG00000175202ENST00000311755p.M78Ic.234G>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.T110Tc.330C>TSubstitution - coding silent
PARP6ENSG00000137817ENST00000287196p.L243Lc.729C>TSubstitution - coding silent
MICAL2ENSG00000133816ENST00000256194p.T769Ic.2306C>TSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.E390Kc.1168G>ASubstitution - Missense
ENST00000315797p.P176Lc.527C>TSubstitution - Missense
GLB1L2ENSG00000149328ENST00000339772p.T301Tc.903C>TSubstitution - coding silent
C11orf58ENSG00000110696ENST00000228136p.S147Fc.440C>TSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.D811Nc.2431G>ASubstitution - Missense
PTCH2ENSG00000117425ENST00000372192p.S735Sc.2205C>TSubstitution - coding silent
SLC6A12ENSG00000111181ENST00000397296p.G349Ec.1046G>ASubstitution - Missense
SEPN1ENSG00000162430ENST00000361547p.S556Gc.1666A>GSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.I529Ic.1587C>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.E2720Kc.8158G>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.T1042Ic.3125C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.E1269Qc.3805G>CSubstitution - Missense
EIF4A1ENSG00000161960ENST00000293831p.L235Fc.703C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G2581Sc.7741G>ASubstitution - Missense
SPAM1ENSG00000106304ENST00000439500p.S119Fc.356C>TSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.L725Pc.2174T>CSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.C1020Cc.3060C>TSubstitution - coding silent
KRT25ENSG00000204897ENST00000312150p.R132Kc.395G>ASubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.D272Nc.814G>ASubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.R352Rc.1056C>ASubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.R721Wc.2161C>TSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.S680Rc.2038A>CSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.I907Ic.2721C>TSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.A175Ac.525C>ASubstitution - coding silent
CCDC109BENSG00000005059ENST00000394650p.A312Sc.934G>TSubstitution - Missense
TTC21AENSG00000168026ENST00000431162p.D90Dc.270C>TSubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000240727p.S353Sc.1059C>TSubstitution - coding silent
CDH5ENSG00000179776ENST00000341529p.H186Nc.556C>ASubstitution - Missense
GFPT2ENSG00000131459ENST00000253778p.G137Sc.409G>ASubstitution - Missense
VIL1ENSG00000127831ENST00000248444p.E669Vc.2006A>TSubstitution - Missense
FAM104BENSG00000182518ENST00000425133p.N97Nc.291C>TSubstitution - coding silent
KIAA2018ENSG00000176542ENST00000316407p.S1882Lc.5645C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.G905Ec.2714G>ASubstitution - Missense
EPB41L4BENSG00000095203ENST00000374566p.R854Mc.2561G>TSubstitution - Missense
FFAR2ENSG00000126262ENST00000246549p.R219Qc.656G>ASubstitution - Missense
SAMD7ENSG00000187033ENST00000335556p.D228Hc.682G>CSubstitution - Missense
VNN1ENSG00000112299ENST00000367928p.G458*c.1372G>TSubstitution - Nonsense
ASB10ENSG00000146926ENST00000420175p.G65Ec.194G>ASubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.G1300Rc.3898G>ASubstitution - Missense
ZNF546ENSG00000187187ENST00000347077p.C50Yc.149G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.P792Lc.2375C>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.V623Ac.1868T>CSubstitution - Missense
PLECENSG00000178209ENST00000356346p.R1082Rc.3246C>TSubstitution - coding silent
VPS39ENSG00000166887ENST00000348544p.S531Sc.1593C>TSubstitution - coding silent
STK32CENSG00000165752ENST00000368620p.P231Lc.692C>TSubstitution - Missense
STK32CENSG00000165752ENST00000368620p.P231Sc.691C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.?c.1282+4A>GUnknown
OR4C13ENSG00000258817ENST00000555099p.I284Ic.852C>TSubstitution - coding silent
OR9G4ENSG00000172457ENST00000302957p.I229Ic.687C>TSubstitution - coding silent
ENST00000326876p.Q143*c.427C>TSubstitution - Nonsense
OR8H3ENSG00000181761ENST00000313472p.F251Fc.753C>TSubstitution - coding silent
TMEM116ENSG00000198270ENST00000552374p.Q269Qc.807G>ASubstitution - coding silent
PPHLN1ENSG00000134283ENST00000432191p.E201Kc.601G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.E619Ec.1857G>ASubstitution - coding silent
PPFIA2ENSG00000139220ENST00000333447p.L325Fc.973C>TSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.G1065Ec.3194G>ASubstitution - Missense
GRIP1ENSG00000155974ENST00000359742p.K445Kc.1335G>ASubstitution - coding silent
ZC3H13ENSG00000123200ENST00000242848p.R743Qc.2228G>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000281815p.?c.381-3C>GUnknown
ADAMTSL4ENSG00000143382ENST00000369039p.D860Vc.2579A>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000329601p.L71Lc.211C>TSubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.A70Ac.210C>TSubstitution - coding silent
ESR2ENSG00000140009ENST00000557772p.L228Lc.684T>ASubstitution - coding silent
C16orf62ENSG00000103544ENST00000448695p.L623Lc.1869G>ASubstitution - coding silent
PDXDC1ENSG00000179889ENST00000455313p.S44Sc.132C>TSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000547372p.?c.1178-10T>CUnknown
FBXW10ENSG00000171931ENST00000308799p.?c.1935-8C>TUnknown
ITGB3ENSG00000259207ENST00000559488p.V485Ic.1453G>ASubstitution - Missense
KIAA1328ENSG00000150477ENST00000591619p.E352Qc.1054G>CSubstitution - Missense
KIAA1328ENSG00000150477ENST00000591619p.T548Ic.1643C>TSubstitution - Missense
MAPRE2ENSG00000166974ENST00000588910p.?c.611-3C>TUnknown
FBXW9ENSG00000132004ENST00000380339p.P41Lc.122C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.E325Kc.973G>ASubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.S85Sc.255C>TSubstitution - coding silent
PTOV1ENSG00000104960ENST00000221557p.E100Ec.300G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000400440p.?c.1167-10C>TUnknown
TPX2ENSG00000088325ENST00000340513p.Q693*c.2077C>TSubstitution - Nonsense
PTPRTENSG00000196090ENST00000373184p.?c.2652+7G>AUnknown
MYT1ENSG00000196132ENST00000360149p.S261Nc.782G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.G96Ec.287G>ASubstitution - Missense
ABCB6ENSG00000115657ENST00000265316p.Q316Qc.948G>ASubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000497079p.G101Ec.302G>ASubstitution - Missense
CYP26B1ENSG00000003137ENST00000001146p.R416Rc.1248C>GSubstitution - coding silent
NEK11ENSG00000114670ENST00000511262p.?c.336+10T>AUnknown
NEK11ENSG00000114670ENST00000511262p.S414Sc.1242A>TSubstitution - coding silent
NEK11ENSG00000114670ENST00000507910p.S414Sc.1242A>TSubstitution - coding silent
ITIH4ENSG00000055955ENST00000346281p.G901Gc.2703G>TSubstitution - coding silent
C1orf141ENSG00000203963ENST00000448166p.I5fs*9c.7_8insAInsertion - Frameshift
DDR1ENSG00000204580ENST00000361741p.C18fs*36c.52delTDeletion - Frameshift
LARP1BENSG00000138709ENST00000432347p.P104Lc.311C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264899p.C325Cc.975T>CSubstitution - coding silent
SORCS2ENSG00000184985ENST00000329016p.V279Vc.837G>ASubstitution - coding silent
PRLRENSG00000113494ENST00000542609p.P198Lc.593C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.R1217Kc.3650G>ASubstitution - Missense
JARID2ENSG00000008083ENST00000541660p.T177Tc.531C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.S3683Lc.11048C>TSubstitution - Missense
NUP153ENSG00000124789ENST00000537253p.I974Vc.2920A>GSubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000435145p.E27Ec.81G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.R3282Qc.9845G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S571Sc.1713C>TSubstitution - coding silent
SLC12A9ENSG00000146828ENST00000540482p.A133Ac.399C>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000358373p.F52Fc.156C>TSubstitution - coding silent
LMBR1ENSG00000105983ENST00000354505p.S380Fc.1139C>TSubstitution - Missense
NUB1ENSG00000013374ENST00000568733p.H346Yc.1036C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.P314Sc.940C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.C1856*c.5568T>ASubstitution - Nonsense
ENST00000319379p.D4106Dc.12318T>CSubstitution - coding silent
FBXL18ENSG00000155034ENST00000453700p.N10Sc.29A>GSubstitution - Missense
NM_024963.2p.N10Sc.29A>GSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.I167Ic.501C>TSubstitution - coding silent
ZCWPW1ENSG00000078487ENST00000398027p.P582Lc.1745C>TSubstitution - Missense
ZSCAN21ENSG00000166529ENST00000292450p.S159Nc.476G>ASubstitution - Missense
ZNF3ENSG00000166526ENST00000299667p.T165Ic.494C>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.A1979Vc.5936C>TSubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.S2742Sc.8226T>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.A1217Vc.3650C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.A1031Vc.3092C>TSubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.L485Fc.1453C>TSubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.L14Fc.40C>TSubstitution - Missense
ENST00000316490p.G2241Ec.6722G>ASubstitution - Missense
ENST00000316490_v65p.D2688Dc.8064C>TSubstitution - coding silent
ENST00000316490p.D2640Dc.7920C>TSubstitution - coding silent
ENST00000316490p.?c.8530-10C>TUnknown
ENST00000309900p.?c.1348-10C>TUnknown
ERN2ENSG00000134398ENST00000256797p.L476Lc.1428G>ASubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.L292Lc.876C>TSubstitution - coding silent
LPHN1ENSG00000072071ENST00000340736p.?c.1816-3T>CUnknown
EMR3ENSG00000131355ENST00000253673p.?c.1249-10C>TUnknown
DNAJB1ENSG00000132002ENST00000254322p.P303Pc.909C>TSubstitution - coding silent
ENST00000319396p.R383Sc.1149G>TSubstitution - Missense
ENST00000319396p.R383Sc.1149G>TSubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.G1005Sc.3013G>ASubstitution - Missense
PSG6ENSG00000170848ENST00000187910p.G375Ec.1124G>ASubstitution - Missense
PSG4ENSG00000243137ENST00000405312p.T385Nc.1154C>ASubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.G375Ec.1124G>ASubstitution - Missense
CEACAM19ENSG00000186567ENST00000358777p.G200Ec.599G>ASubstitution - Missense
NM_133170.2p.?c.2748+7G>AUnknown
NM_133170.2p.A568Ac.1704C>TSubstitution - coding silent
DHX35ENSG00000101452ENST00000252011p.P165Sc.493C>TSubstitution - Missense
CD40ENSG00000101017ENST00000372285p.S35Sc.105T>CSubstitution - coding silent
SLC12A5ENSG00000124140ENST00000243964p.V159Mc.475G>ASubstitution - Missense
GSX2ENSG00000180613ENST00000326902p.P40Pc.120A>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.P792Lc.2375C>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NM_058004.1p.?c.995-7C>TUnknown
SCN1AENSG00000144285ENST00000303395p.G96Ec.287G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.G96Ec.287G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.G96Rc.286G>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L163Lc.489C>TSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.L1023Lc.3069A>GSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.G716Rc.2146G>ASubstitution - Missense
KLHL38ENSG00000175946ENST00000325995p.S17Sc.51T>GSubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.F850Fc.2550C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361209p.?c.1015+7C>TUnknown
GSNENSG00000148180ENST00000373818p.T386Tc.1158C>TSubstitution - coding silent
GSNENSG00000148180ENST00000373823p.T335Tc.1005C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.L2092Lc.6276C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000359428p.E709Vc.2126A>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.A1072Ac.3216T>CSubstitution - coding silent
ABL1ENSG00000097007ENST00000318560p.G1025Dc.3074G>ASubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.E360Kc.1078G>ASubstitution - Missense
ATP13A4ENSG00000127249ENST00000342695p.?c.2440-7C>TUnknown
TMEM144ENSG00000164124ENST00000296529p.I277Ic.831A>TSubstitution - coding silent
GRIA2ENSG00000120251ENST00000264426p.?c.2406+8C>TUnknown
NPY5RENSG00000164129ENST00000338566p.V225Lc.673G>CSubstitution - Missense
RNF180ENSG00000164197ENST00000389100p.D49Nc.145G>ASubstitution - Missense
ABHD16AENSG00000204427ENST00000395952p.R252Gc.754C>GSubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000411527p.E27Ec.81G>ASubstitution - coding silent
POLR1CENSG00000171453ENST00000372389p.N74Sc.221A>GSubstitution - Missense
CDYLENSG00000153046ENST00000328908p.S201Sc.603C>TSubstitution - coding silent
KLHL10ENSG00000161594ENST00000293303p.T540Ic.1619C>TSubstitution - Missense
SLC25A39ENSG00000013306ENST00000225308p.?c.668-6C>TUnknown
GAPDHSENSG00000105679ENST00000222286p.T256Tc.768C>TSubstitution - coding silent
GAPDHSENSG00000105679ENST00000222286p.Q257Kc.769C>ASubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.?c.3220+8C>TUnknown
NFKBIDENSG00000167604ENST00000340950p.G31Gc.93C>ASubstitution - coding silent
RASGRP4ENSG00000171777ENST00000454404p.K476Kc.1428G>ASubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.R1411Kc.4232G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.R2371Gc.7111A>GSubstitution - Missense
NR3C1ENSG00000113580ENST00000231509p.R492*c.1474C>TSubstitution - Nonsense
NR3C1ENSG00000113580ENST00000415690p.R491*c.1471C>TSubstitution - Nonsense
RALGDSENSG00000160271ENST00000372050p.K421Kc.1263G>ASubstitution - coding silent
RALGDSENSG00000160271ENST00000542690p.K492Kc.1476G>ASubstitution - coding silent
RALGDSENSG00000160271ENST00000372062p.K392Kc.1176G>ASubstitution - coding silent
COL5A1ENSG00000130635ENST00000371817p.P650Lc.1949C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000376752p.P129Lc.386C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000376767p.P129Lc.386C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.E1360Kc.4078G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.E1360Kc.4078G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.E950Kc.2848G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.E4911Kc.14731G>ASubstitution - Missense
NOL8ENSG00000198000ENST00000545558p.R483Hc.1448G>ASubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.R281Lc.842G>TSubstitution - Missense
ATP5SLENSG00000105341ENST00000221943p.F118Fc.354C>TSubstitution - coding silent
NME8ENSG00000086288ENST00000199447p.?c.1248-5C>TUnknown
AEBP1ENSG00000106624ENST00000223357p.P116Sc.346C>TSubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.P495Rc.1484C>GSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.P692Pc.2076C>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000286437p.P333Pc.999C>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.P692Pc.2076C>ASubstitution - coding silent
MAGEA12ENSG00000213401ENST00000357916p.A28Ac.84G>ASubstitution - coding silent
ENST00000428722p.S131Sc.393C>TSubstitution - coding silent
PNCKENSG00000130822ENST00000447676p.G409Rc.1225G>CSubstitution - Missense
PNCKENSG00000130822ENST00000370145p.G343Rc.1027G>CSubstitution - Missense
PNCKENSG00000130822ENST00000393831p.G349Rc.1045G>CSubstitution - Missense
SU_CaMK1bp.G326Rc.976G>CSubstitution - Missense
PNCKENSG00000130822ENST00000447676p.Q408Qc.1224G>ASubstitution - coding silent
PNCKENSG00000130822ENST00000370145p.Q342Qc.1026G>ASubstitution - coding silent
PNCKENSG00000130822ENST00000393831p.Q348Qc.1044G>ASubstitution - coding silent
ATP2B3ENSG00000067842ENST00000370186p.F182Fc.546C>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.I4009Ic.12027C>TSubstitution - coding silent
L1CAMENSG00000198910ENST00000370060p.P456Lc.1367C>TSubstitution - Missense
PSD2ENSG00000146005ENST00000274710p.?c.1595-6C>TUnknown
ANKHD1ENSG00000131503ENST00000360839p.G1273Ec.3818G>ASubstitution - Missense
NMUR2ENSG00000132911ENST00000255262p.?c.938-4C>TUnknown
FAT2ENSG00000086570ENST00000261800p.S1593Fc.4778C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000376575p.C287fs*36c.859delTDeletion - Frameshift
DDR1ENSG00000204580ENST00000418800p.C287fs*36c.859delTDeletion - Frameshift
ENST00000364810p.?c.71-9C>GUnknown
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.?c.888+1G>AUnknown
CDHR3ENSG00000128536ENST00000317716p.T80Ic.239C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.T80Ic.239C>TSubstitution - Missense
NM_002711.2p.Q944Hc.2832A>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.S360Sc.1080C>TSubstitution - coding silent
NOBOXENSG00000106410ENST00000467773p.P162Pc.486C>TSubstitution - coding silent
NOBOXENSG00000106410ENST00000223140p.P162Pc.486C>TSubstitution - coding silent
NOBOXENSG00000106410ENST00000223140p.D17Ec.51C>ASubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.F11Fc.33C>TSubstitution - coding silent
GIMAP8ENSG00000171115ENST00000307271p.S299Sc.897G>ASubstitution - coding silent
NUB1ENSG00000013374ENST00000566856p.H322Yc.964C>TSubstitution - Missense
SMARCD3ENSG00000082014ENST00000262188p.L376Fc.1126C>TSubstitution - Missense
ASB10ENSG00000146926ENST00000422024p.G110Ec.329G>ASubstitution - Missense
C7orf72ENSG00000164500ENST00000297001p.V131Vc.393G>ASubstitution - coding silent
UNC13AENSG00000130477ENST00000519716p.D353Dc.1059C>TSubstitution - coding silent
SU_MAST3p.S107Sc.321C>TSubstitution - coding silent
ZNF429ENSG00000197013ENST00000358491p.G658Ec.1973G>ASubstitution - Missense
FBXO46ENSG00000177051ENST00000317683p.P140Pc.420C>TSubstitution - coding silent
RTN2ENSG00000125744ENST00000245923p.L320Pc.959T>CSubstitution - Missense
RELBENSG00000104856ENST00000221452p.S472Yc.1415C>ASubstitution - Missense
ZNF114ENSG00000178150ENST00000315849p.P69Sc.205C>TSubstitution - Missense
NM_014959.1p.P208Sc.622C>TSubstitution - Missense
SULT2A1ENSG00000105398ENST00000222002p.?c.745+1G>AUnknown
CRXENSG00000105392ENST00000221996p.?c.101-8C>TUnknown
NUCB1ENSG00000104805ENST00000263273p.F317Fc.951C>TSubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.S672Fc.2015C>TSubstitution - Missense
NUPR1ENSG00000176046ENST00000324873p.R82Cc.244C>TSubstitution - Missense
MVPENSG00000013364ENST00000395353p.R600Gc.1798C>GSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.V588Vc.1764G>ASubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000326016p.V196Vc.588G>ASubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000392953p.V196Vc.588G>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.S1035Rc.3105T>GSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G3788Ec.11363G>ASubstitution - Missense
BOCENSG00000144857ENST00000355385p.S459Fc.1376C>TSubstitution - Missense
NEK11ENSG00000114670ENST00000429253p.?c.336+10T>AUnknown
NEK11ENSG00000114670ENST00000429253p.S414Sc.1242A>TSubstitution - coding silent
STAG1ENSG00000118007ENST00000383202p.P1111Lc.3332C>TSubstitution - Missense
XM_371709.3p.?c.714+1G>AUnknown
CLGNENSG00000153132ENST00000325617p.P402Lc.1205C>TSubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.S549Sc.1647C>TSubstitution - coding silent
EDNRAENSG00000151617ENST00000324300p.E2Kc.4G>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.G603Dc.1808G>ASubstitution - Missense
CCDC149ENSG00000181982ENST00000504487p.S279Fc.836C>TSubstitution - Missense
LGI2ENSG00000153012ENST00000382114p.L284Fc.850C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.G905Rc.2713G>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000379533p.G952Rc.2854G>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000379533p.G952Ec.2855G>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.S552Lc.1655C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000379533p.S599Lc.1796C>TSubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.E369Kc.1105G>ASubstitution - Missense
FSTL4ENSG00000053108ENST00000265342p.M647Ic.1941G>ASubstitution - Missense
ZFYVE16ENSG00000039319ENST00000338008p.S661Nc.1982G>ASubstitution - Missense
KIAA0825ENSG00000185261ENST00000329378p.D13Dc.39C>TSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000312498p.D13Dc.39C>TSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000312498p.R305Cc.913C>TSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.E422Dc.1266G>CSubstitution - Missense
SERPINB3ENSG00000057149ENST00000283752p.F287Fc.861C>TSubstitution - coding silent
ADSLENSG00000239900ENST00000216194p.F208Fc.624C>TSubstitution - coding silent
L3MBTL2ENSG00000100395ENST00000216237p.?c.263-10C>TUnknown
ARMC2ENSG00000118690ENST00000392644p.E838Kc.2512G>ASubstitution - Missense
EYSENSG00000188107ENST00000342421p.L542Lc.1626G>ASubstitution - coding silent
EYSENSG00000188107ENST00000370621p.L542Lc.1626G>ASubstitution - coding silent
RIMS1ENSG00000079841ENST00000521978p.R958Pc.2873G>CSubstitution - Missense
ZNF189ENSG00000136870ENST00000339664p.R36Ic.107G>TSubstitution - Missense
TRMT11ENSG00000066651ENST00000334379p.H210Nc.628C>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.R1206Rc.3618G>ASubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.R1206Kc.3617G>ASubstitution - Missense
TPBGENSG00000146242ENST00000369750p.A269Vc.806C>TSubstitution - Missense
EEF1E1ENSG00000124802ENST00000379715p.?c.289-4C>TUnknown
CNR1ENSG00000118432ENST00000369499p.L147Lc.441C>TSubstitution - coding silent
SLC35A1ENSG00000164414ENST00000369552p.T328Ic.983C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.R89*c.265C>TSubstitution - Nonsense
NM_004440p.G704Rc.2110G>CSubstitution - Missense
RNF135ENSG00000181481ENST00000328381p.L382Lc.1146T>ASubstitution - coding silent
SUZ12ENSG00000178691ENST00000322652p.E314Kc.940G>ASubstitution - Missense
CCL15-CCL14ENSG00000161574ENST00000481427p.G89Rc.265G>ASubstitution - Missense
CCL15-CCL14ENSG00000161574ENST00000481427p.K88Kc.264G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.R1293Qc.3878G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P314Sc.940C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P314Sc.940C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1590Kc.4768G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1521Kc.4561G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.C1856*c.5568T>ASubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.C1787*c.5361T>ASubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.C1787Yc.5360G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2675Fc.8024C>TSubstitution - Missense
PTCHD1ENSG00000165186ENST00000379361p.D663Nc.1987G>ASubstitution - Missense
ENST00000381114p.G237Ec.710G>ASubstitution - Missense
ENST00000381114p.G237Ec.710G>ASubstitution - Missense
ENST00000272666p.D752Ec.2256C>ASubstitution - Missense
PNKDENSG00000127838ENST00000258362p.I100Ic.300C>TSubstitution - coding silent
NM_005689.1p.Q316Qc.948G>ASubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.?c.3259+1G>AUnknown
IHHENSG00000163501ENST00000295731p.Q358*c.1072C>TSubstitution - Nonsense
CCDC108ENSG00000181378ENST00000341552p.F1550Fc.4650C>TSubstitution - coding silent
OBSL1ENSG00000124006ENST00000404537p.E967Kc.2899G>ASubstitution - Missense
SP110ENSG00000135899ENST00000258381p.R669Cc.2005C>TSubstitution - Missense
DNERENSG00000187957ENST00000341772p.T557Tc.1671C>ASubstitution - coding silent
COL4A3ENSG00000169031ENST00000396578p.R1215Qc.3644G>ASubstitution - Missense
ALPPENSG00000163283ENST00000392027p.G327Sc.979G>ASubstitution - Missense
ENST00000359743p.Q59Rc.176A>GSubstitution - Missense
UGT1A7ENSG00000244122ENST00000373426p.D85Nc.253G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.K976Rc.2927A>GSubstitution - Missense
COL6A3ENSG00000163359ENST00000392004p.K770Rc.2309A>GSubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.S139Sc.417C>TSubstitution - coding silent
BCL11AENSG00000119866ENST00000359629p.S139Sc.417C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.G108Ec.323G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.G101Ec.302G>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.S1835Lc.5504C>TSubstitution - Missense
C3orf22ENSG00000180697ENST00000318225p.D50Nc.148G>ASubstitution - Missense
H1FOOENSG00000178804ENST00000324382p.R254Kc.761G>ASubstitution - Missense
ACAD9ENSG00000177646ENST00000308982p.S185Rc.555T>GSubstitution - Missense
DNAJB8ENSG00000179407ENST00000469083p.G213Ec.638G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.L1609Fc.4825C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.L1615Fc.4843C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.L1600Fc.4798C>TSubstitution - Missense
TAF9ENSG00000085231ENST00000380818p.V11Ac.32T>CSubstitution - Missense
PPARDENSG00000112033ENST00000360694p.V11Vc.33C>TSubstitution - coding silent
ENST00000238522p.S2598Lc.7793C>TSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.T720Ic.2159C>TSubstitution - Missense
MED20ENSG00000124641ENST00000265350p.V142Vc.426G>ASubstitution - coding silent
COQ3ENSG00000132423ENST00000254759p.V17Mc.49G>ASubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.K1526Kc.4578G>ASubstitution - coding silent
ACTL6BENSG00000077080ENST00000160382p.R127Qc.380G>ASubstitution - Missense
TRIM56ENSG00000169871ENST00000306085p.P547Sc.1639C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.G1088Dc.3263G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.S428Sc.1284C>TSubstitution - coding silent
SH2B2ENSG00000160999ENST00000536178p.G257Sc.769G>ASubstitution - Missense
COL26A1ENSG00000160963ENST00000397927p.P254Pc.762C>TSubstitution - coding silent
CALN1ENSG00000183166ENST00000395275p.?c.389-8C>TUnknown
CLIP2ENSG00000106665ENST00000361545p.L560Lc.1678C>TSubstitution - coding silent
PHKA1ENSG00000067177ENST00000373542p.D1042Ec.3126T>GSubstitution - Missense
NHSL2ENSG00000204131ENST00000540800p.E485Kc.1453G>ASubstitution - Missense
XM_291321.3p.E116Kc.346G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.Y1303Yc.3909T>CSubstitution - coding silent
NONOENSG00000147140ENST00000276079p.G443Ec.1328G>ASubstitution - Missense
ENST00000373468p.S254Sc.762C>TSubstitution - coding silent
BRWD3ENSG00000165288ENST00000373275p.W1800*c.5399G>ASubstitution - Nonsense
BRWD3ENSG00000165288ENST00000373275p.D1244Nc.3730G>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.?c.595-10C>TUnknown
UNC13AENSG00000130477ENST00000428389p.E335Kc.1003G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.D441Dc.1323C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.C325Cc.975T>CSubstitution - coding silent
FRAS1ENSG00000138759ENST00000325942p.C325Cc.975T>CSubstitution - coding silent
ACOX3ENSG00000087008ENST00000356406p.R270Cc.808C>TSubstitution - Missense
AGPAT9ENSG00000138678ENST00000395226p.M313Ic.939G>ASubstitution - Missense
MMRN1ENSG00000138722ENST00000394980p.E593Kc.1777G>ASubstitution - Missense
PLEKHA2ENSG00000169499ENST00000420274p.?c.916-3T>CUnknown
KAT6AENSG00000083168ENST00000265713p.V1624Vc.4872C>TSubstitution - coding silent
XM_098980.6p.S452Sc.1356G>CSubstitution - coding silent
CXorf22ENSG00000165164ENST00000297866p.?c.517+7C>TUnknown
NM_152632.1p.?c.517+7C>TUnknown
CXorf22ENSG00000165164ENST00000297866p.L633Ic.1897T>ASubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.S272Yc.815C>ASubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.Q391*c.1171C>TSubstitution - Nonsense
SMC1AENSG00000072501ENST00000322213p.A390Ac.1170C>GSubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.P978Sc.2932C>TSubstitution - Missense
XM_497119.1p.?c.2743-7G>AUnknown
ZNF667ENSG00000198046ENST00000292069p.P119Sc.355C>TSubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.E322Dc.966A>TSubstitution - Missense
ZNF550ENSG00000251369ENST00000506609p.K107Kc.321G>ASubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000433686p.S409Sc.1227C>TSubstitution - coding silent
BCL6BENSG00000161940ENST00000293805p.S141Fc.422C>TSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.I285Ic.855C>TSubstitution - coding silent
KIF19ENSG00000196169ENST00000389916p.R299Cc.895C>TSubstitution - Missense
OTOP3ENSG00000182938ENST00000328801p.A381Vc.1142C>TSubstitution - Missense
IL1R1ENSG00000115594ENST00000233946p.I377Lc.1129A>TSubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.V350Vc.1050C>TSubstitution - coding silent
XYLBENSG00000093217ENST00000207870p.?c.1005-4G>AUnknown
DLEC1ENSG00000008226ENST00000308059p.R1738Wc.5212C>TSubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.C1696Cc.5088C>TSubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.?c.4144-10C>TUnknown
TTC21AENSG00000168026ENST00000431162p.R91*c.271C>TSubstitution - Nonsense
CDH5ENSG00000179776ENST00000341529p.L526Fc.1576C>TSubstitution - Missense
CES4AENSG00000172824ENST00000398354p.N379Kc.1137T>GSubstitution - Missense
CES4AENSG00000172824ENST00000326686p.N406Kc.1218T>GSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.S1036Fc.3107C>TSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.S1020Fc.3059C>TSubstitution - Missense
TSC22D2ENSG00000196428ENST00000361875p.?c.1959-2A>GUnknown
GFM1ENSG00000168827ENST00000486715p.N459Nc.1377C>TSubstitution - coding silent
ANKRD28ENSG00000206560ENST00000383777p.G686Ec.2057G>ASubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.P625Sc.1873C>TSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.P216Sc.646C>TSubstitution - Missense
PRDM5ENSG00000138738ENST00000264808p.G205Ec.614G>ASubstitution - Missense
LARP1BENSG00000138709ENST00000326639p.P104Lc.311C>TSubstitution - Missense
LARP1BENSG00000138709ENST00000427266p.P104Lc.311C>TSubstitution - Missense
FBXO30ENSG00000118496ENST00000237281p.L52Sc.155T>CSubstitution - Missense
CCDC170ENSG00000120262ENST00000239374p.R67Qc.200G>ASubstitution - Missense
CCDC170ENSG00000120262ENST00000239374p.?c.443+6G>AUnknown
JARID2ENSG00000008083ENST00000341776p.T215Tc.645C>TSubstitution - coding silent
MTRF1LENSG00000112031ENST00000367233p.K364Kc.1092G>ASubstitution - coding silent
ARID1BENSG00000049618ENST00000346085p.P1474Sc.4420C>TSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.P230Pc.690C>TSubstitution - coding silent
MPC1ENSG00000060762ENST00000360961p.F27Fc.81C>TSubstitution - coding silent
C6orf118ENSG00000112539ENST00000230301p.L77Sc.230T>CSubstitution - Missense
MALSU1ENSG00000156928ENST00000466681p.R133Qc.398G>ASubstitution - Missense
RAPGEF5ENSG00000136237ENST00000344041p.?c.412-10A>GUnknown
DNAH11ENSG00000105877ENST00000328843p.E1771Kc.5311G>ASubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.R61Cc.181C>TSubstitution - Missense
HOXA13ENSG00000106031ENST00000222753p.G260Sc.778G>ASubstitution - Missense
HIP1ENSG00000127946ENST00000336926p.E509Kc.1525G>ASubstitution - Missense
ENST00000433511p.S43Sc.129G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.F4094Fc.12282C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.F4094Fc.12282C>TSubstitution - coding silent
SEMA3EENSG00000170381ENST00000307792p.?c.1735+7C>TUnknown
PCLOENSG00000186472ENST00000333891p.P314Sc.940C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.P896Sc.2686C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.E141Ec.423A>GSubstitution - coding silent
DIP2AENSG00000160305ENST00000427143p.E77Ec.231A>GSubstitution - coding silent
DIP2AENSG00000160305ENST00000457905p.E141Ec.423A>GSubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.E141Ec.423A>GSubstitution - coding silent
C22orf29ENSG00000215012ENST00000328554p.R138Hc.413G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G17869Rc.53605G>CSubstitution - Missense
ENST00000356127p.G24239Rc.72715G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G17936Rc.53806G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.W15751*c.47252G>ASubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.W9379*c.28136G>ASubstitution - Nonsense
ENST00000356127p.W15751*c.47252G>ASubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.P13106Lc.39317C>TSubstitution - Missense
ENST00000356127p.P19476Lc.58427C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P13173Lc.39518C>TSubstitution - Missense
NM_003319p.P12981Lc.38942C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.R2278Rc.6834G>ASubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.L1990Fc.5968C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.?c.4104+1G>AUnknown
DNAH7ENSG00000118997ENST00000312428p.W3600*c.10800G>ASubstitution - Nonsense
CARFENSG00000138380ENST00000320443p.P395Sc.1183C>TSubstitution - Missense
STRADBENSG00000082146ENST00000194530p.V169Ec.506T>ASubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.G175Rc.523G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.P1281Sc.3841C>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.I1238Tc.3713T>CSubstitution - Missense
ITGAMENSG00000169896ENST00000287497p.P685Sc.2053C>TSubstitution - Missense
TRAT1ENSG00000163519ENST00000295756p.Y79fs*2c.234_240delCTATGAADeletion - Frameshift
GUCA1CENSG00000138472ENST00000261047p.G202Gc.606T>GSubstitution - coding silent
DZIP3ENSG00000198919ENST00000361582p.Y453Nc.1357T>ASubstitution - Missense
ENST00000407030p.H135Lc.404A>TSubstitution - Missense
ARMC5ENSG00000140691ENST00000408912p.L855Hc.2564T>ASubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.Q1176Qc.3528G>ASubstitution - coding silent
ENST00000570743p.T1408Tc.4224G>ASubstitution - coding silent
MYH13ENSG00000006788ENST00000252172p.T1408Tc.4224G>ASubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.R431Rc.1293G>ASubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.H305Yc.913C>TSubstitution - Missense
ZNF534ENSG00000198633ENST00000332323p.H553Yc.1657C>TSubstitution - Missense
TSEN34ENSG00000170892ENST00000396383p.T67Ic.200C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000536311p.S559Nc.1676G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.G1080Gc.3240C>ASubstitution - coding silent
PLCB1ENSG00000182621ENST00000378641p.G1144Sc.3430G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.G1144Dc.3431G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.T1631Ic.4892C>TSubstitution - Missense
LIPIENSG00000188992ENST00000344577p.S262Lc.785C>TSubstitution - Missense
MORC2ENSG00000133422ENST00000397641p.R569Cc.1705C>TSubstitution - Missense
C22orf24ENSG00000128254ENST00000248984p.L56Lc.168G>ASubstitution - coding silent
C22orf24ENSG00000128254ENST00000248984p.L56Lc.168G>ASubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.?c.13831-4C>TUnknown
MUC20ENSG00000176945ENST00000447234p.A169Ac.507T>ASubstitution - coding silent
TFRCENSG00000072274ENST00000360110p.P543Sc.1627C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1510Tc.4528C>ASubstitution - Missense
ENST00000405167p.P1510Tc.4528C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1518Tc.4552G>ASubstitution - Missense
ENST00000405167p.A1518Tc.4552G>ASubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.P517Sc.1549C>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000425562p.P517Sc.1549C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000341435p.R126*c.376C>TSubstitution - Nonsense
SU_NEK10p.R126*c.376C>TSubstitution - Nonsense
BRPF1ENSG00000156983ENST00000383829p.H1121Yc.3361C>TSubstitution - Missense
OR5H1ENSG00000231192ENST00000354565p.I146Ic.438C>TSubstitution - coding silent
COL25A1ENSG00000188517ENST00000399126p.G610Ec.1829G>ASubstitution - Missense
CLNKENSG00000109684ENST00000226951p.?c.906+4A>TUnknown
CLNKENSG00000109684ENST00000226951p.?c.906+4A>TUnknown
FRAS1ENSG00000138759ENST00000264895p.C325Cc.975T>CSubstitution - coding silent
CORO6ENSG00000167549ENST00000388767p.S278Fc.833C>TSubstitution - Missense
EIF4A3ENSG00000141543ENST00000269349p.S305Sc.915C>TSubstitution - coding silent
PYCR1ENSG00000183010ENST00000329875p.E81Kc.241G>ASubstitution - Missense
PPP1R27ENSG00000182676ENST00000330261p.G87Ec.260G>ASubstitution - Missense
SS18ENSG00000141380ENST00000415083p.P303Sc.907C>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.C548*c.1644C>ASubstitution - Nonsense
KLHL14ENSG00000197705ENST00000359358p.G471Ec.1412G>ASubstitution - Missense
MAPRE2ENSG00000166974ENST00000300249p.?c.611-3C>TUnknown
KIAA1328ENSG00000150477ENST00000280020p.T552Ic.1655C>TSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.P179Pc.537G>ASubstitution - coding silent
MAST1ENSG00000105613ENST00000251472p.E695Kc.2083G>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.E695Kc.2083G>ASubstitution - Missense
NACC1ENSG00000160877ENST00000292431p.A327Vc.980C>TSubstitution - Missense
ENST00000325084p.E408Kc.1222G>ASubstitution - Missense
ENST00000357018p.E408Kc.1222G>ASubstitution - Missense
SPATC1LENSG00000160284ENST00000291672p.I230Ic.690C>TSubstitution - coding silent
GCENSG00000145321ENST00000273951p.P152Sc.454C>TSubstitution - Missense
C4orf26ENSG00000174792ENST00000435974p.S87Fc.260C>TSubstitution - Missense
C4orf26ENSG00000174792ENST00000311623p.F72Fc.216C>TSubstitution - coding silent
SLC6A2ENSG00000103546ENST00000219833p.S396Fc.1187C>TSubstitution - Missense
SLC6A2ENSG00000103546ENST00000379906p.S396Fc.1187C>TSubstitution - Missense
KRT28ENSG00000173908ENST00000306658p.E211Kc.631G>ASubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.I19Ic.57C>TSubstitution - coding silent
PAXBP1ENSG00000159086ENST00000331923p.P243Sc.727C>TSubstitution - Missense
NSUN7ENSG00000179299ENST00000381782p.S24Fc.71C>TSubstitution - Missense
SEMA3FENSG00000001617ENST00000002829p.R562Rc.1686G>ASubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.E336Kc.1006G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.Q946*c.2836C>TSubstitution - Nonsense
TWF2ENSG00000247596ENST00000305533p.V57Mc.169G>ASubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.G899Gc.2697C>TSubstitution - coding silent
BAP1ENSG00000163930ENST00000460680p.T111Tc.333C>TSubstitution - coding silent
KIAA0319ENSG00000137261ENST00000378214p.D1002Nc.3004G>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.N459Nc.1377C>TSubstitution - coding silent
HIST1H2ADENSG00000196866ENST00000341023p.K119Kc.357G>ASubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.P16Sc.46C>TSubstitution - Missense
PTNENSG00000105894ENST00000348225p.Q104Qc.312G>ASubstitution - coding silent
WEE2ENSG00000214102ENST00000397541p.K341Tc.1022A>CSubstitution - Missense
TFPI2ENSG00000105825ENST00000222543p.?c.632-3T>CUnknown
RHPN1ENSG00000158106ENST00000289013p.R352Rc.1056C>ASubstitution - coding silent
PLECENSG00000178209ENST00000345136p.P3311Lc.9932C>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.P3338Lc.10013C>TSubstitution - Missense
ZNF707ENSG00000181135ENST00000532205p.P134Lc.401C>TSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.A478Ec.1433C>ASubstitution - Missense
ENST00000292520p.A319Ec.956C>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.R1233Rc.3699C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.R1096Rc.3288C>TSubstitution - coding silent
GPTENSG00000167701ENST00000528431p.E109Ec.327G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.E465Ec.1395A>GSubstitution - coding silent
ENSG00000182319ENST00000330777p.H319Hc.957C>TSubstitution - coding silent
SU_SgK223p.H319Hc.957C>TSubstitution - coding silent
ZBTB7CENSG00000184828ENST00000332053p.D137Nc.409G>ASubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.?c.1900-8C>TUnknown
ZNF532ENSG00000074657ENST00000336078p.L407Lc.1219C>TSubstitution - coding silent
SEH1LENSG00000085415ENST00000399892p.P384_P385delPPc.1137_1142delTCCTCCDeletion - In frame
DHRS7CENSG00000184544ENST00000330255p.E113Kc.337G>ASubstitution - Missense
KIR2DS4ENSG00000221957ENST00000391729p.L59Lc.177T>GSubstitution - coding silent
KIR2DL1ENSG00000125498ENST00000336077p.F181Fc.543C>TSubstitution - coding silent
KIR2DL1ENSG00000125498ENST00000336077p.P186Sc.556C>TSubstitution - Missense
KIR2DL1ENSG00000125498ENST00000336077p.G283Ec.848G>ASubstitution - Missense
PYGBENSG00000100994ENST00000216962p.V719Ac.2156T>CSubstitution - Missense
CPXM1ENSG00000088882ENST00000380605p.L369Sc.1106T>CSubstitution - Missense
CCM2LENSG00000101331ENST00000262659p.R356Cc.1066C>TSubstitution - Missense
CCM2LENSG00000101331ENST00000300415p.R356Cc.1066C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000427143p.P832Sc.2494C>TSubstitution - Missense
ALOX15ENSG00000161905ENST00000545513p.S637Lc.1910C>TSubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.V438Ic.1312G>ASubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.T569Tc.1707C>TSubstitution - coding silent
TMEM92ENSG00000167105ENST00000300433p.P119Lc.356C>TSubstitution - Missense
ENST00000331986p.Y484Yc.1452C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P4737Lc.14210C>TSubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.P193Lc.578C>TSubstitution - Missense
ZNF812ENSG00000224689ENST00000457674p.H332Pc.995A>CSubstitution - Missense
ENST00000344049p.R122Gc.364A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T6423Mc.19268C>TSubstitution - Missense
ENST00000356127p.T6423Mc.19268C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A3541Tc.10621G>ASubstitution - Missense
ENST00000356127p.A3541Tc.10621G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.A4614Tc.13840G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E5300Kc.15898G>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.P808Lc.2423C>TSubstitution - Missense
ENST00000344648p.R559Kc.1676G>ASubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.L1911Lc.5733C>TSubstitution - coding silent
C8orf46ENSG00000169085ENST00000305454p.G141Rc.421G>ASubstitution - Missense
CCL25ENSG00000131142ENST00000390669p.D29Nc.85G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.D2694Nc.8080G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H10704Yc.32110C>TSubstitution - Missense
ENST00000331986p.H6337Yc.19009C>TSubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.I549Ic.1647C>TSubstitution - coding silent
MYO1CENSG00000197879ENST00000361007p.I1010Tc.3029T>CSubstitution - Missense
MYOCDENSG00000141052ENST00000425538p.P846Sc.2536C>TSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.P798Sc.2392C>TSubstitution - Missense
ZNF554ENSG00000172006ENST00000317243p.R493Kc.1478G>ASubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.A814Pc.2440G>CSubstitution - Missense
NM_020856.1p.A631Pc.1891G>CSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.P529Sc.1585C>TSubstitution - Missense
FLT3LGENSG00000090554ENST00000204637p.P217Ac.649C>GSubstitution - Missense
LILRA5ENSG00000187116ENST00000301219p.L44Lc.132C>TSubstitution - coding silent
SIGLEC7ENSG00000168995ENST00000317643p.H43Nc.127C>ASubstitution - Missense
KLK9ENSG00000213022ENST00000376832p.S199Fc.596C>TSubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.S401Fc.1202C>TSubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.E56Ec.168G>ASubstitution - coding silent
TGM2ENSG00000198959ENST00000361475p.R418Hc.1253G>ASubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.G783Rc.2347G>ASubstitution - Missense
DOK5ENSG00000101134ENST00000262593p.L98Fc.292C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.T460Tc.1380C>TSubstitution - coding silent
GCC1ENSG00000179562ENST00000321407p.S772Fc.2315C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.M966Lc.2896A>TSubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.Q1418*c.4252C>TSubstitution - Nonsense
C9orf131ENSG00000174038ENST00000312292p.A567Dc.1700C>ASubstitution - Missense
MELKENSG00000165304ENST00000298048p.P479Sc.1435C>TSubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.V405Vc.1215C>TSubstitution - coding silent
APBA1ENSG00000107282ENST00000265381p.D625Ac.1874A>CSubstitution - Missense
ENST00000399933_v61p.E597Kc.1789G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.L1511Vc.4531C>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.L1515Vc.4543C>GSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.N157Ic.470A>TSubstitution - Missense
SPATA12ENSG00000186451ENST00000334325p.G36Dc.107G>ASubstitution - Missense
PTPRGENSG00000144724ENST00000474889p.L127Fc.379C>TSubstitution - Missense
FRMD4AENSG00000151474ENST00000264546p.P215Lc.644C>TSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.T982Ic.2945C>TSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.T982Ic.2945C>TSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.C681Wc.2043T>GSubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.L329Lc.987G>ASubstitution - coding silent
GH2ENSG00000136487ENST00000456543p.L108Lc.324C>TSubstitution - coding silent
AXIN2ENSG00000168646ENST00000307078p.V200Mc.598G>ASubstitution - Missense
BPTFENSG00000171634ENST00000306378p.I1185Vc.3553A>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.F1162Fc.3486C>TSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.C1020Cc.3060C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.Q1525Qc.4575G>ASubstitution - coding silent
ENST00000322367p.Q1060Qc.3180G>ASubstitution - coding silent
ENST00000368677p.S242Fc.725C>TSubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.S19Fc.56C>TSubstitution - Missense
SPRR2BENSG00000196805ENST00000368752p.P35Lc.104C>TSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.G1757Rc.5269G>ASubstitution - Missense
GBAENSG00000177628ENST00000368373p.Q96*c.286C>TSubstitution - Nonsense
UBE2Q1ENSG00000160714ENST00000292211p.?c.730-1G>AUnknown
GON4LENSG00000116580ENST00000437809p.I1645Ic.4935C>TSubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.I1645Ic.4935C>TSubstitution - coding silent
C1orf106ENSG00000163362ENST00000367342p.?c.829+8G>AUnknown
ATP2B4ENSG00000058668ENST00000357681p.I323Ic.969C>TSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000367218p.I323Ic.969C>TSubstitution - coding silent
SECISBP2LENSG00000138593ENST00000559471p.G650Gc.1950C>TSubstitution - coding silent
SECISBP2LENSG00000138593ENST00000261847p.G605Gc.1815C>TSubstitution - coding silent
MYO5CENSG00000128833ENST00000261839p.S51Fc.152C>TSubstitution - Missense
ENST00000298047_v61p.P4468Lc.13403C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.P1043Lc.3128C>TSubstitution - Missense
KNTC1ENSG00000184445ENST00000333479p.S1789Lc.5366C>TSubstitution - Missense
NBPF9ENSG00000168614ENST00000375552p.?c.1808-3C>GUnknown
NBPF9ENSG00000168614ENST00000338347p.?c.1587-3C>GUnknown
NBPF9ENSG00000168614ENST00000440491p.?c.1808-3C>GUnknown
PRAMEF2ENSG00000120952ENST00000240189p.K148fs*14c.444_445delGGDeletion - Frameshift
PDE4DIPENSG00000178104ENST00000369356p.R655Rc.1965G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.R655Rc.1965G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.R721Rc.2163G>ASubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.A707fs*107c.2119_2126delGCTCAGTCDeletion - Frameshift
C1orf168ENSG00000187889ENST00000343433p.P367Pc.1101T>GSubstitution - coding silent
TRNAU1APENSG00000180098ENST00000373830p.V30Ac.89T>CSubstitution - Missense
L1TD1ENSG00000240563ENST00000498273p.A79fs*20c.235_314del80Deletion - Frameshift
CHD5ENSG00000116254ENST00000262450p.G606Rc.1816G>ASubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.G1299Sc.3895G>ASubstitution - Missense
C1orf141ENSG00000203963ENST00000371007p.I5fs*9c.7_8insAInsertion - Frameshift
C1orf173ENSG00000178965ENST00000326665p.R1046Rc.3138G>ASubstitution - coding silent
ELTD1ENSG00000162618ENST00000370742p.S337Lc.1010C>TSubstitution - Missense
SAMD11ENSG00000187634ENST00000342066p.A612Tc.1834G>ASubstitution - Missense
ENST00000358254p.E308Kc.922G>ASubstitution - Missense
ESR2ENSG00000140009ENST00000341099p.L228Lc.684T>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.Y1180fs*1c.3540delTDeletion - Frameshift
PLEKHH1ENSG00000054690ENST00000329153p.R424Rc.1272G>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.R463Rc.1389G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.D140Nc.418G>ASubstitution - Missense
FLRT2ENSG00000185070ENST00000330753p.T407Tc.1221G>ASubstitution - coding silent
FBLN5ENSG00000140092ENST00000342058p.E415Kc.1243G>ASubstitution - Missense
NM_017936.3p.A474Vc.1421C>TSubstitution - Missense
SERPINA1ENSG00000197249ENST00000440909p.A308Vc.923C>TSubstitution - Missense
IGDCC3ENSG00000174498ENST00000327987p.V281Gc.842T>GSubstitution - Missense
CILPENSG00000138615ENST00000261883p.P140Sc.418C>TSubstitution - Missense
GBP4ENSG00000162654ENST00000355754p.P81Lc.242C>TSubstitution - Missense
RPL5ENSG00000122406ENST00000370321p.K5Ec.13A>GSubstitution - Missense
PPP2R5CENSG00000078304ENST00000334743p.A364Ac.1092G>ASubstitution - coding silent
DLK1ENSG00000185559ENST00000341267p.D182Nc.544G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.A12Sc.34G>TSubstitution - Missense
ENST00000240700p.*80Gc.238T>GNonstop extension
RYR3ENSG00000198838ENST00000389232p.M2606Ic.7818G>ASubstitution - Missense
NM_006293p.?c.1729+8C>TUnknown
IRX1ENSG00000170549ENST00000302006p.E243Ec.729G>ASubstitution - coding silent
ENST00000318301p.L445Lc.1335G>ASubstitution - coding silent
MROH2BENSG00000171495ENST00000399564p.T697Ic.2090C>TSubstitution - Missense
C7ENSG00000112936ENST00000313164p.Y318Cc.953A>GSubstitution - Missense
ENST00000299564p.A161Tc.481G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000311745p.?c.1059-10T>CUnknown
OSGIN1ENSG00000140961ENST00000343939p.S277Fc.830C>TSubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.D27Nc.79G>ASubstitution - Missense
GPR162ENSG00000250510ENST00000311268p.T506Tc.1518C>TSubstitution - coding silent
CLSTN3ENSG00000139182ENST00000266546p.T729Ac.2185A>GSubstitution - Missense
TSPAN8ENSG00000127324ENST00000247829p.F71Fc.213C>TSubstitution - coding silent
HTR3AENSG00000166736ENST00000355556p.D60Hc.178G>CSubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.M3Ic.9G>ASubstitution - Missense
CD81ENSG00000110651ENST00000263645p.G109Sc.325G>ASubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.Y113Cc.338A>GSubstitution - Missense
CATENSG00000121691ENST00000241052p.V26Ic.76G>ASubstitution - Missense
MYBPHLENSG00000221986ENST00000357155p.P148Sc.442C>TSubstitution - Missense
POLR3CENSG00000186141ENST00000334163p.G327Gc.981C>TSubstitution - coding silent
POLR3GLENSG00000121851ENST00000369314p.Y194Hc.580T>CSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.D1418Nc.4252G>ASubstitution - Missense
ENST00000455833_v68p.N415Sc.1244A>GSubstitution - Missense
IFFO2ENSG00000169991ENST00000455833p.N415Sc.1244A>GSubstitution - Missense
PTX4ENSG00000251692ENST00000293922p.P391Pc.1173C>TSubstitution - coding silent
PTX4ENSG00000251692ENST00000447419p.P396Pc.1188C>TSubstitution - coding silent
PDXDC1ENSG00000179889ENST00000396410p.S44Sc.132C>TSubstitution - coding silent
C16orf62ENSG00000103544ENST00000438132p.L862Lc.2586G>ASubstitution - coding silent
C16orf62ENSG00000103544ENST00000251143p.L773Lc.2319G>ASubstitution - coding silent
PTCHD3ENSG00000182077ENST00000438700p.K663Nc.1989A>CSubstitution - Missense
RGMAENSG00000182175ENST00000557301p.I114Vc.340A>GSubstitution - Missense
ST8SIA2ENSG00000140557ENST00000268164p.D372Nc.1114G>ASubstitution - Missense
BAIAP3ENSG00000007516ENST00000324385p.K822Kc.2466G>ASubstitution - coding silent
SHISA9ENSG00000237515ENST00000558583p.L363Lc.1087T>CSubstitution - coding silent
FRMPD2ENSG00000170324ENST00000374201p.G636Rc.1906G>ASubstitution - Missense
MBL2ENSG00000165471ENST00000373968p.G95Rc.283G>ASubstitution - Missense
MCUENSG00000156026ENST00000373053p.L217Lc.649C>TSubstitution - coding silent
ENST00000398860p.T2911Tc.8733C>TSubstitution - coding silent
CDH23ENSG00000107736ENST00000398809p.I186Ic.558C>TSubstitution - coding silent
ENST00000398860p.I191Ic.573C>TSubstitution - coding silent
CDH23ENSG00000107736ENST00000461841p.I231Ic.693C>TSubstitution - coding silent
STIP1ENSG00000168439ENST00000305218p.K222*c.664A>TSubstitution - Nonsense
NRXN2ENSG00000110076ENST00000377551p.G539Gc.1617G>ASubstitution - coding silent
WDR65ENSG00000243710ENST00000528956p.L674Fc.2020C>TSubstitution - Missense
ZNF691ENSG00000164011ENST00000372503p.H170Hc.510C>TSubstitution - coding silent
IPO13ENSG00000117408ENST00000372343p.F202Fc.606C>TSubstitution - coding silent
PRB3ENSG00000197870ENST00000538488p.E58Gc.173A>GSubstitution - Missense
ENST00000242630p.V62Ic.184G>ASubstitution - Missense
AP4B1ENSG00000134262ENST00000369569p.R376Rc.1128G>ASubstitution - coding silent
DIABLOENSG00000184047ENST00000443649p.G138delGc.413_415delGAGDeletion - In frame
CSDE1ENSG00000009307ENST00000358528p.S695_V702delSKKLFFHVc.2084_2107del24Deletion - In frame
NOTCH2ENSG00000134250ENST00000256646p.E798Kc.2392G>ASubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369038p.D837Vc.2510A>TSubstitution - Missense
ECM1ENSG00000143369ENST00000369049p.P167Sc.499C>TSubstitution - Missense
ECM1ENSG00000143369ENST00000369047p.P140Sc.418C>TSubstitution - Missense
PSMD4ENSG00000159352ENST00000368884p.A351Ac.1053C>TSubstitution - coding silent
VPS39ENSG00000166887ENST00000318006p.S520Sc.1560C>TSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.A2998Tc.8992G>ASubstitution - Missense
EPB42ENSG00000166947ENST00000300215p.?c.1870-7C>TUnknown
STARD9ENSG00000159433ENST00000290607p.V840Vc.2520T>CSubstitution - coding silent
TSPAN1ENSG00000117472ENST00000372003p.V215Vc.645G>CSubstitution - coding silent
TOE1ENSG00000132773ENST00000372090p.S26Fc.77C>TSubstitution - Missense
USP24ENSG00000162402ENST00000294383p.?c.7381-5C>TUnknown
AKAP6ENSG00000151320ENST00000280979p.S1073Fc.3218C>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.R1538Lc.4613G>TSubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.I207Lc.619A>CSubstitution - Missense
PCSK6ENSG00000140479ENST00000344273p.I207Lc.619A>CSubstitution - Missense
ENST00000331826_v68p.I42Lc.124A>CSubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.G553Ec.1658G>ASubstitution - Missense
ENST00000331826_v68p.G388Ec.1163G>ASubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.L336Fc.1006C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.Q1573Qc.4719G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.Q1547Qc.4641G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.Q1525Qc.4575G>ASubstitution - coding silent
PPFIA2ENSG00000139220ENST00000549396p.G1077Ec.3230G>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.I441Ic.1323C>TSubstitution - coding silent
C1QCENSG00000159189ENST00000374637p.S238Sc.714C>TSubstitution - coding silent
SU_OBSCN.1p.R7116Pc.21347G>CSubstitution - Missense
NM_017449p.E390Kc.1168G>ASubstitution - Missense
ENST00000279593p.L719Lc.2157C>TSubstitution - coding silent
ENST00000279593p.S332Fc.995C>TSubstitution - Missense
SLCO1B7ENSG00000205754ENST00000421593p.R243Rc.729G>ASubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.P201Sc.601C>TSubstitution - Missense
KRT84ENSG00000161849ENST00000257951p.?c.1425-10C>TUnknown
CHRNA3ENSG00000080644ENST00000326828p.M312Ic.936G>ASubstitution - Missense
TM6SF1ENSG00000136404ENST00000322019p.G304Gc.912T>ASubstitution - coding silent
BNC1ENSG00000169594ENST00000345382p.Q594Rc.1781A>GSubstitution - Missense
SH3GL3ENSG00000140600ENST00000324537p.T97Tc.291G>CSubstitution - coding silent
SH3GL3ENSG00000140600ENST00000427482p.T89Tc.267G>CSubstitution - coding silent
GOLGA6L18ENSG00000215749ENST00000559949p.G155Gc.465G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.S2567Sc.7701C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.S2563Sc.7689C>TSubstitution - coding silent
INPPL1ENSG00000165458ENST00000298229p.S435Sc.1305T>CSubstitution - coding silent
PAAF1ENSG00000175575ENST00000310571p.?c.382-3C>AUnknown
PAK1ENSG00000149269ENST00000356341p.Y270Yc.810T>CSubstitution - coding silent
ENST00000317359p.D129Dc.387C>TSubstitution - coding silent
PAK1ENSG00000149269ENST00000278568p.Y270Yc.810T>CSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.R925Cc.2773C>TSubstitution - Missense
FANK1ENSG00000203780ENST00000368693p.L196Lc.588C>TSubstitution - coding silent
STK32CENSG00000165752ENST00000298630p.Q161*c.481C>TSubstitution - Nonsense
STK32CENSG00000165752ENST00000368625p.F173Fc.519C>TSubstitution - coding silent
OSGEPENSG00000092094ENST00000206542p.H49Yc.145C>TSubstitution - Missense
OR11H4ENSG00000176198ENST00000315409p.L42Lc.126G>ASubstitution - coding silent
OR4M1ENSG00000176299ENST00000315957p.F193Fc.579C>TSubstitution - coding silent
OR4N2ENSG00000176294ENST00000315947p.M298Ic.894G>ASubstitution - Missense
AJUBAENSG00000129474ENST00000262713p.G292Gc.876G>ASubstitution - coding silent
CMA1ENSG00000092009ENST00000250378p.L155*c.464T>ASubstitution - Nonsense
MS4A6AENSG00000110077ENST00000528851p.P7Sc.19C>TSubstitution - Missense
MS4A6AENSG00000110077ENST00000529054p.P35Sc.103C>TSubstitution - Missense
FAM111BENSG00000189057ENST00000343597p.P354Pc.1062C>TSubstitution - coding silent
OR52L1ENSG00000183313ENST00000332249p.H106Yc.316C>TSubstitution - Missense
OR52L1ENSG00000183313ENST00000332249p.H91Yc.271C>TSubstitution - Missense
MS4A6AENSG00000110077ENST00000323961p.P7Sc.19C>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.D4610Dc.13830C>TSubstitution - coding silent
INTS5ENSG00000185085ENST00000330574p.G791Gc.2373G>ASubstitution - coding silent
PPP1CAENSG00000172531ENST00000312989p.S218Sc.654T>CSubstitution - coding silent
ENST00000451458p.S304Sc.912T>CSubstitution - coding silent
KRTAP5-8ENSG00000241233ENST00000398534p.G25Gc.75C>ASubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.G1512Ec.4535G>ASubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.A70Ac.210C>TSubstitution - coding silent
FAM160B1ENSG00000151553ENST00000369248p.?c.523-9C>TUnknown
SFXN2ENSG00000156398ENST00000369893p.?c.508-3C>TUnknown
NT5DC3ENSG00000111696ENST00000392876p.P540Sc.1618C>TSubstitution - Missense
NM_031277.1p.K108Kc.324G>ASubstitution - coding silent
KIFAP3ENSG00000075945ENST00000361580p.?c.841+7A>GUnknown
CSNK1A1LENSG00000180138ENST00000379800p.R278Tc.833G>CSubstitution - Missense
TNRENSG00000116147ENST00000367674p.R1256Cc.3766C>TSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.W147*c.440G>ASubstitution - Nonsense
NM_004667.3p.L3757Lc.11269C>TSubstitution - coding silent
GABRA5ENSG00000186297ENST00000335625p.E93Kc.277G>ASubstitution - Missense
TAGLN2ENSG00000158710ENST00000320307p.P71Lc.212C>TSubstitution - Missense
ENSG00000270149ENST00000289779p.G120Gc.360G>ASubstitution - coding silent
FCGR2BENSG00000072694ENST00000358671p.?c.818-7C>TUnknown
KRTAP5-1ENSG00000205869ENST00000382171p.G156Sc.466G>ASubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.P798Lc.2393C>TSubstitution - Missense
RNF2ENSG00000121481ENST00000367510p.E271Ec.813A>GSubstitution - coding silent
RNF2ENSG00000121481ENST00000367510p.L272Ic.814C>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.Q756*c.2266C>TSubstitution - Nonsense
PPHLN1ENSG00000134283ENST00000358314p.E256Kc.766G>ASubstitution - Missense
PPHLN1ENSG00000134283ENST00000395568p.E256Kc.766G>ASubstitution - Missense
SERPINB3ENSG00000057149ENST00000283752p.E233Kc.697G>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.T298Mc.893C>TSubstitution - Missense
KIAA0825ENSG00000185261ENST00000329378p.R305Cc.913C>TSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.R305Cc.913C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.S2069Lc.6206C>TSubstitution - Missense
CDK5R1ENSG00000176749ENST00000313401p.S6Fc.17C>TSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.T525Tc.1575C>TSubstitution - coding silent
XM_498354.1p.D180Nc.538G>ASubstitution - Missense
ORM1ENSG00000229314ENST00000259396p.Y109Yc.327C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.R334*c.1000C>TSubstitution - Nonsense
OR2F1ENSG00000213215ENST00000392899p.P210Pc.630C>TSubstitution - coding silent
SLCO1C1ENSG00000139155ENST00000381552p.?c.272-1G>AUnknown
ACADLENSG00000115361ENST00000233710p.R50*c.148C>TSubstitution - Nonsense
CDH18ENSG00000145526ENST00000507958p.R357Cc.1069C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.R294*c.880C>TSubstitution - Nonsense
RIMS2ENSG00000176406ENST00000507740p.S1134Sc.3402C>TSubstitution - coding silent
EBF2ENSG00000221818ENST00000520164p.D247Nc.739G>ASubstitution - Missense
CECR1ENSG00000093072ENST00000399837p.E495Kc.1483G>ASubstitution - Missense
SLCO1C1ENSG00000139155ENST00000266509p.E691Kc.2071G>ASubstitution - Missense
NALCNENSG00000102452ENST00000251127p.P831Sc.2491C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.G1690Ec.5069G>ASubstitution - Missense
OR4A15ENSG00000181958ENST00000314706p.M322Ic.966G>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.T110Ic.329C>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.L1450Lc.4348C>TSubstitution - coding silent
ECE1ENSG00000117298ENST00000374893p.P696Pc.2088C>TSubstitution - coding silent
ECE1ENSG00000117298ENST00000357071p.P684Pc.2052C>TSubstitution - coding silent
HOXC10ENSG00000180818ENST00000303460p.A50Ac.150G>ASubstitution - coding silent
TESPA1ENSG00000135426ENST00000449076p.A233Vc.698C>TSubstitution - Missense
TESPA1ENSG00000135426ENST00000316577p.A95Vc.284C>TSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.?c.1621+7G>AUnknown
PARP6ENSG00000137817ENST00000287196p.P244Sc.730C>TSubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.R55Cc.163C>TSubstitution - Missense
ENST00000446175_v65p.A301Gc.902C>GSubstitution - Missense
SUGT1ENSG00000165416ENST00000343788p.C154Yc.461G>ASubstitution - Missense
TAS2R10ENSG00000121318ENST00000240619p.F70Fc.210C>TSubstitution - coding silent
DAOENSG00000110887ENST00000228476p.P103Lc.308C>TSubstitution - Missense
ENST00000377560_v62p.?c.8234-6C>TUnknown
TAS2R30ENSG00000256188ENST00000539585p.K214Kc.642A>GSubstitution - coding silent
HIAT1ENSG00000156875ENST00000370152p.I150Lc.448A>TSubstitution - Missense
AGAP10ENSG00000204172ENST00000413193p.S223Rc.667A>CSubstitution - Missense
ENSG00000215033ENST00000335083p.C32delCc.93_95delTTGDeletion - In frame
SYT15ENSG00000204176ENST00000374328p.?c.491+4A>GUnknown
SYT15ENSG00000204176ENST00000374321p.?c.1123+2T>AUnknown
SYT15ENSG00000204176ENST00000374325p.?c.1123+2T>AUnknown
SYT15ENSG00000204176ENST00000374325p.?c.1279+2T>AUnknown
SYT15ENSG00000204176ENST00000374328p.?c.491+2T>AUnknown
C1orf65ENSG00000178395ENST00000366875p.F200Lc.600C>GSubstitution - Missense
LARP4BENSG00000107929ENST00000316157p.S736Fc.2207C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.G2078Ec.6233G>ASubstitution - Missense
PANX3ENSG00000154143ENST00000284288p.F40Fc.120C>TSubstitution - coding silent
APLP2ENSG00000084234ENST00000263574p.R504Cc.1510C>TSubstitution - Missense
OR52K1ENSG00000196778ENST00000307632p.E59Kc.175G>ASubstitution - Missense
ENST00000357170p.P29Sc.85C>TSubstitution - Missense
R3HDM2ENSG00000179912ENST00000347140p.P787Sc.2359C>TSubstitution - Missense
R3HDM2ENSG00000179912ENST00000441731p.P482Sc.1444C>TSubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.L80Lc.240G>ASubstitution - coding silent
AGAP2ENSG00000135439ENST00000257897p.F90Lc.270C>ASubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.H336Yc.1006C>TSubstitution - Missense
TNFRSF1AENSG00000067182ENST00000162749p.G65Rc.193G>ASubstitution - Missense
LIN7AENSG00000111052ENST00000552864p.E41Kc.121G>ASubstitution - 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