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ZR-75-30 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1065 mutations reported
411 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
KDM7AENSG00000006459ENST00000397560p.R704Rc.2112G>ASubstitution - coding silent
ARMC5ENSG00000140691ENST00000457010p.G673Cc.2017G>TSubstitution - Missense
OR5K4ENSG00000196098ENST00000354924p.A119Gc.356C>GSubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.I481Mc.1443C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E2054Kc.6160G>ASubstitution - Missense
SULT2B1ENSG00000088002ENST00000201586p.E47Qc.139G>CSubstitution - Missense
ENST00000341648p.R504Sc.1512G>TSubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.V8Ac.23T>CSubstitution - Missense
OR13D1ENSG00000179055ENST00000318763p.F94Cc.281T>GSubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.Q659Hc.1977A>CSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.?c.1230+7C>GUnknown
EZH2ENSG00000106462ENST00000320356p.S624Cc.1871C>GSubstitution - Missense
ENST00000342288p.N342Nc.1026T>CSubstitution - coding silent
SLC12A5ENSG00000124140ENST00000243964p.L875Vc.2623C>GSubstitution - Missense
NM_003829.1p.G1102Gc.3306A>GSubstitution - coding silent
OR5M3ENSG00000174937ENST00000312240p.L142Mc.424C>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.L57Lc.169C>TSubstitution - coding silent
C2orf44ENSG00000163026ENST00000295148p.T331Mc.992C>TSubstitution - Missense
CR2ENSG00000117322ENST00000367057p.?c.734+9C>GUnknown
PITRM1ENSG00000107959ENST00000380989p.H511Dc.1531C>GSubstitution - Missense
CHKAENSG00000110721ENST00000265689p.E294Kc.880G>ASubstitution - Missense
CD59ENSG00000085063ENST00000395850p.L115delLc.339_341delTCTDeletion - In frame
SYNMENSG00000182253ENST00000336292p.L959Lc.2877T>CSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.R2059Qc.6176G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R672Rc.2016G>TSubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.?c.1843-10A>CUnknown
NPR2ENSG00000159899ENST00000342694p.F253Fc.759T>CSubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.T1959Ic.5876C>TSubstitution - Missense
NDUFV3ENSG00000160194ENST00000354250p.R176*c.526C>TSubstitution - Nonsense
ENST00000292520p.?c.814-3C>GUnknown
TTNENSG00000155657ENST00000342992p.I30574Tc.91721T>CSubstitution - Missense
LBHENSG00000213626ENST00000395323p.*106Kc.316T>ANonstop extension
ABCA9ENSG00000154258ENST00000340001p.V296Ic.886G>ASubstitution - Missense
DFNA5ENSG00000105928ENST00000342947p.Q160Hc.480G>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.E541*c.1621G>TSubstitution - Nonsense
NHSL2ENSG00000204131ENST00000540800p.S576*c.1727C>ASubstitution - Nonsense
GEMIN5ENSG00000082516ENST00000285873p.K1165Nc.3495G>CSubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.T522Mc.1565C>TSubstitution - Missense
SGK1ENSG00000118515ENST00000367857p.T417Mc.1250C>TSubstitution - Missense
ENST00000373990p.R76Qc.227G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.N541Ic.1622A>TSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.T105Ac.313A>GSubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.H409Yc.1225C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E2054Kc.6160G>ASubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.T1184Tc.3552G>ASubstitution - coding silent
COPZ2ENSG00000005243ENST00000006101p.S84Rc.252C>GSubstitution - Missense
CPA6ENSG00000165078ENST00000297770p.P236Pc.708T>CSubstitution - coding silent
MARCH2ENSG00000099785ENST00000602117p.L9Lc.27C>TSubstitution - coding silent
TP53I13ENSG00000167543ENST00000301057p.R180Wc.538C>TSubstitution - Missense
USP14ENSG00000101557ENST00000261601p.E94Kc.280G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.L108Lc.324T>ASubstitution - coding silent
DRC1ENSG00000157856ENST00000288710p.D501Dc.1503C>TSubstitution - coding silent
NOD1ENSG00000106100ENST00000222823p.R657Cc.1969C>TSubstitution - Missense
SLC15A2ENSG00000163406ENST00000489711p.C388Fc.1163G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.G3206Vc.9617G>TSubstitution - Missense
KHDRBS2ENSG00000112232ENST00000281156p.S310Cc.928A>TSubstitution - Missense
WFIKKN2ENSG00000173714ENST00000311378p.L296Lc.888G>CSubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.M310Ic.930G>ASubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.I508Ic.1524C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.M694Ic.2082G>CSubstitution - Missense
SLC24A3ENSG00000185052ENST00000328041p.T595Mc.1784C>TSubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.P254Sc.760C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.K588Ic.1763A>TSubstitution - Missense
NADKENSG00000008130ENST00000341991p.E445delEc.1334_1336delAGGDeletion - In frame
MMAAENSG00000151611ENST00000281317p.R314Cc.940C>TSubstitution - Missense
MC2RENSG00000185231ENST00000399821p.A126Ac.378G>ASubstitution - coding silent
SCFD1ENSG00000092108ENST00000458591p.E354Ec.1062G>ASubstitution - coding silent
SLC4A8ENSG00000050438ENST00000394856p.L507Lc.1521C>TSubstitution - coding silent
PNLIPRP3ENSG00000203837ENST00000369230p.A380Tc.1138G>ASubstitution - Missense
TCN1ENSG00000134827ENST00000257264p.G414Vc.1241G>TSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000312015p.E205Dc.615G>CSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.E2221Qc.6661G>CSubstitution - Missense
AMICA1ENSG00000160593ENST00000356289p.I342Vc.1024A>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.?c.434+3delaUnknown
RILPL1ENSG00000188026ENST00000376874p.N290Sc.869A>GSubstitution - Missense
FMO5ENSG00000131781ENST00000441068p.T110Ac.328A>GSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.K503Ec.1507A>GSubstitution - Missense
ENST00000300671p.?c.9639-5G>TUnknown
CHD7ENSG00000171316ENST00000423902p.S2084Gc.6250A>GSubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.E93Kc.277G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.K129Tc.386A>CSubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.V59Vc.177G>ASubstitution - coding silent
C7orf76ENSG00000197851ENST00000356686p.K18Ec.52A>GSubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.E922Qc.2764G>CSubstitution - Missense
OTOFENSG00000115155ENST00000339598p.G302Dc.905G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.I24202Tc.72605T>CSubstitution - Missense
ENST00000338885p.R272Rc.816A>GSubstitution - coding silent
ZNF200ENSG00000010539ENST00000396870p.P306Rc.917C>GSubstitution - Missense
GAGE1ENSG00000205777ENST00000381709p.T120Sc.359C>GSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.S927Sc.2781G>ASubstitution - coding silent
RUFY1ENSG00000176783ENST00000319449p.E474Qc.1420G>CSubstitution - Missense
TOMM40ENSG00000130204ENST00000252487p.?c.537+3G>AUnknown
TOPAZ1ENSG00000173769ENST00000309765p.I609Fc.1825A>TSubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.?c.1129+3A>GUnknown
GGT1ENSG00000100031ENST00000400380p.?c.1337-4G>TUnknown
GSTK1ENSG00000197448ENST00000479303p.R119Wc.355C>TSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.V228Lc.682G>CSubstitution - Missense
TNFRSF21ENSG00000146072ENST00000296861p.R382Qc.1145G>ASubstitution - Missense
TRIM5ENSG00000132256ENST00000380034p.D382Hc.1144G>CSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.Q651Kc.1951C>ASubstitution - Missense
TRIM5ENSG00000132256ENST00000305836p.D382Hc.1144G>CSubstitution - Missense
C1orf65ENSG00000178395ENST00000366875p.L243Lc.729G>ASubstitution - coding silent
NM_172373.2p.N322Nc.966T>CSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.G679Rc.2035G>CSubstitution - Missense
DICER1ENSG00000100697ENST00000343455p.W316fs*15c.946_962del17Deletion - Frameshift
FOXD4L5ENSG00000204779ENST00000377420p.R15Hc.44G>ASubstitution - Missense
FAM222BENSG00000173065ENST00000452648p.L257Lc.769C>TSubstitution - coding silent
ZC3HAV1ENSG00000105939ENST00000242351p.E269Ec.807G>ASubstitution - coding silent
PITX1ENSG00000069011ENST00000265340p.K86Nc.258G>CSubstitution - Missense
MIEF1ENSG00000100335ENST00000325301p.S315Lc.944C>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.S669Pc.2005T>CSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.S287Sc.861C>TSubstitution - coding silent
PSORS1C1ENSG00000204540ENST00000259881p.T130Ic.389C>TSubstitution - Missense
ENST00000316490_v65p.K1878Mc.5633A>TSubstitution - Missense
PSG4ENSG00000243137ENST00000244295p.I211Tc.632T>CSubstitution - Missense
IRGCENSG00000124449ENST00000244314p.T177Tc.531G>ASubstitution - coding silent
RGS14ENSG00000169220ENST00000408923p.L353Lc.1059G>ASubstitution - coding silent
RMND5BENSG00000145916ENST00000313386p.C356Cc.1068T>CSubstitution - coding silent
ENST00000417442p.L51Lc.151C>TSubstitution - coding silent
ANGEL1ENSG00000013523ENST00000251089p.S382Lc.1145C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.G947Gc.2841G>ASubstitution - coding silent
ENST00000398270p.H96Qc.288T>ASubstitution - Missense
ENST00000361928p.A72Tc.214G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.N541Ic.1622A>TSubstitution - Missense
CLN3ENSG00000188603ENST00000354630p.?c.460+3G>AUnknown
JAKMIP2ENSG00000176049ENST00000507386p.E348*c.1042G>TSubstitution - Nonsense
KRI1ENSG00000129347ENST00000312962p.S155Lc.464C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.S65Fc.194C>TSubstitution - Missense
OR10R2ENSG00000198965ENST00000368152p.A191Dc.572C>ASubstitution - Missense
C11orf49ENSG00000149179ENST00000378615p.D257Nc.769G>ASubstitution - Missense
TCN1ENSG00000134827ENST00000257264p.Q366Qc.1098G>ASubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.R35Cc.103C>TSubstitution - Missense
GXYLT1ENSG00000151233ENST00000280876p.L275Fc.823C>TSubstitution - Missense
CYP17A1ENSG00000148795ENST00000369887p.L465Lc.1393C>TSubstitution - coding silent
PPIP5K1ENSG00000168781ENST00000420765p.S275Fc.824C>TSubstitution - Missense
HK1ENSG00000156515ENST00000298649p.E279Dc.837G>CSubstitution - Missense
ENST00000312753p.A66Tc.196G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.S2322Pc.6964T>CSubstitution - Missense
ENST00000331986p.H5626Nc.16876C>ASubstitution - Missense
CORO2AENSG00000106789ENST00000343933p.G192Sc.574G>ASubstitution - Missense
TESK1ENSG00000107140ENST00000336395p.T344Tc.1032G>ASubstitution - coding silent
N4BP2ENSG00000078177ENST00000261435p.K20*c.58A>TSubstitution - Nonsense
PROM2ENSG00000155066ENST00000317668p.?c.2441+3G>AUnknown
ANKRD36CENSG00000174501ENST00000456556p.D1605fs*1c.4811_4812insCInsertion - Frameshift
AIREENSG00000160224ENST00000291582p.P400Lc.1199C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.Q316Ec.946C>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.R1700Wc.5098C>TSubstitution - Missense
RBKSENSG00000171174ENST00000302188p.T26Tc.78C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H994Yc.2980C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.V29Gc.86T>GSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.K2093Nc.6279G>TSubstitution - Missense
PPANENSG00000130810ENST00000253107p.E316Dc.948G>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.E2381Kc.7141G>ASubstitution - Missense
PRKD3ENSG00000115825ENST00000379066p.?c.718-3T>CUnknown
TLR3ENSG00000164342ENST00000296795p.T395Tc.1185T>GSubstitution - coding silent
CACTINENSG00000105298ENST00000221899p.R75Qc.224G>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.G1298Gc.3894C>TSubstitution - coding silent
XM_036729.3p.?c.299+6A>GUnknown
ASAP1ENSG00000153317ENST00000357668p.E202Ec.606G>ASubstitution - coding silent
TNCENSG00000041982ENST00000350763p.?c.2951-1G>CUnknown
KIAA1731ENSG00000166004ENST00000411936p.?c.434+3delaUnknown
CPA6ENSG00000165078ENST00000518549p.P236Pc.708T>CSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.I326Tc.977T>CSubstitution - Missense
SERTAD4ENSG00000082497ENST00000367012p.A43delAc.125_127delCAGDeletion - In frame
NM_145313.1p.I342Ic.1026C>TSubstitution - coding silent
ALDH2ENSG00000111275ENST00000261733p.K515Kc.1545G>ASubstitution - coding silent
HARBI1ENSG00000180423ENST00000326737p.A214Ac.642G>ASubstitution - coding silent
SLC4A8ENSG00000050438ENST00000453097p.L560Lc.1680C>TSubstitution - coding silent
ENST00000366638p.A562Gc.1685C>GSubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.S26Sc.78C>TSubstitution - coding silent
ENST00000563027_v68p.A563Ac.1689T>CSubstitution - coding silent
UNC45AENSG00000140553ENST00000418476p.N366Hc.1096A>CSubstitution - Missense
NMD3ENSG00000169251ENST00000351193p.V345Vc.1035C>TSubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.C606Cc.1818C>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.V1502Ac.4505T>CSubstitution - Missense
INPP4AENSG00000040933ENST00000545415p.L108Lc.324T>ASubstitution - coding silent
SLC13A3ENSG00000158296ENST00000372121p.?c.770+5C>TUnknown
TMPRSS3ENSG00000160183ENST00000380399p.H443Yc.1327C>TSubstitution - Missense
ARHGAP27ENSG00000159314ENST00000428638p.?c.2174-9C>AUnknown
POM121ENSG00000196313ENST00000434423p.I1029Tc.3086T>CSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.R580Hc.1739G>ASubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.K515Kc.1545G>ASubstitution - coding silent
NUMA1ENSG00000137497ENST00000393695p.C375fs*44c.1123delTDeletion - Frameshift
PLEKHS1ENSG00000148735ENST00000369312p.R131Lc.392G>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P2227Pc.6681C>TSubstitution - coding silent
KRT5ENSG00000186081ENST00000252242p.D249Dc.747C>TSubstitution - coding silent
MFAP1ENSG00000140259ENST00000267812p.?c.299+3A>GUnknown
NOTCH2ENSG00000134250ENST00000256646p.D684Nc.2050G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.?c.434+3delaUnknown
TSC2ENSG00000103197ENST00000219476p.V296Mc.886G>ASubstitution - Missense
DIS3LENSG00000166938ENST00000319194p.Y507Hc.1519T>CSubstitution - Missense
ENST00000226258p.S325fs*46c.972_973delCTDeletion - Frameshift
FANCGENSG00000221829ENST00000378643p.?c.85-7G>AUnknown
ZNF99ENSG00000213973ENST00000397104p.E737Kc.2209G>ASubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.R734Rc.2202A>GSubstitution - coding silent
NOL4ENSG00000101746ENST00000261592p.S317Sc.951G>ASubstitution - coding silent
KANK1ENSG00000107104ENST00000382303p.D1102Hc.3304G>CSubstitution - Missense
ENST00000292520p.L331Lc.993C>GSubstitution - coding silent
NM_003319p.M22189Rc.66566T>GSubstitution - Missense
ENST00000405167p.T2950Tc.8850T>GSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.I1148Ic.3444C>TSubstitution - coding silent
EFCAB6ENSG00000186976ENST00000262726p.D1165Vc.3494A>TSubstitution - Missense
SLC11A1ENSG00000018280ENST00000233202p.T450Pc.1348A>CSubstitution - Missense
ZNF714ENSG00000160352ENST00000291770p.E29Kc.85G>ASubstitution - Missense
TFENSG00000091513ENST00000402696p.S298Lc.893C>TSubstitution - Missense
LCN8ENSG00000204001ENST00000371688p.V16Vc.48C>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.D270Dc.810C>TSubstitution - coding silent
KIRREL2ENSG00000126259ENST00000360202p.K538Rc.1613A>GSubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.V660Lc.1978G>TSubstitution - Missense
PALLDENSG00000129116ENST00000508898p.Q496*c.1486C>TSubstitution - Nonsense
NEBENSG00000183091ENST00000409198p.L57Pc.170T>CSubstitution - Missense
ENST00000319957p.L560Lc.1680C>TSubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.S857Cc.2570C>GSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.M860Kc.2579T>ASubstitution - Missense
KRTAP5-4ENSG00000241598ENST00000399682p.G82Gc.246C>TSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369486p.Y793Yc.2379C>TSubstitution - coding silent
SLC22A15ENSG00000163393ENST00000369503p.E523Dc.1569G>CSubstitution - Missense
ORAI1ENSG00000182500ENST00000330079p.P295Pc.885C>TSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.T1514Tc.4542G>ASubstitution - coding silent
AMICA1ENSG00000160593ENST00000292067p.I332Vc.994A>GSubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.?c.2054-3C>TUnknown
C14orf183ENSG00000168260ENST00000305273p.T274fs*49c.816_817insCInsertion - Frameshift
NPR2ENSG00000159899ENST00000342694p.F253Fc.759T>CSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.A308Vc.923C>TSubstitution - Missense
KIAA1429ENSG00000164944ENST00000297591p.S784delSc.2349_2351delCAGDeletion - In frame
TTLL2ENSG00000120440ENST00000239587p.Y124Cc.371A>GSubstitution - Missense
SLC5A3ENSG00000198743ENST00000381151p.I582Mc.1746C>GSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.T392Tc.1176C>GSubstitution - coding silent
CLIP4ENSG00000115295ENST00000320081p.V379Lc.1135G>TSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.H409Yc.1225C>TSubstitution - Missense
SSX3ENSG00000165584ENST00000376893p.S130Cc.389C>GSubstitution - Missense
IQCJENSG00000214216ENST00000397832p.Q54*c.160C>TSubstitution - Nonsense
PNPLA3ENSG00000100344ENST00000216180p.I155Mc.465C>GSubstitution - Missense
WNT6ENSG00000115596ENST00000233948p.S146Sc.438C>TSubstitution - coding silent
TTLL8ENSG00000138892ENST00000433387p.?c.298+5C>AUnknown
ENTPD8ENSG00000188833ENST00000344119p.T310Tc.930A>GSubstitution - coding silent
TEX101ENSG00000131126ENST00000253435p.S169Tc.506G>CSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.R1849Wc.5545C>TSubstitution - Missense
NM_207305.1p.G416Rc.1246G>ASubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.S1591Gc.4771A>GSubstitution - Missense
PDZRN3ENSG00000121440ENST00000535920p.E401*c.1201G>TSubstitution - Nonsense
FXYD3ENSG00000089356ENST00000435734p.C101Cc.303C>TSubstitution - coding silent
EVC2ENSG00000173040ENST00000344938p.S201Wc.602C>GSubstitution - Missense
ENST00000356127p.S20315Sc.60945G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.S14012Sc.42036G>ASubstitution - coding silent
C4BPAENSG00000123838ENST00000367070p.C234fs*2c.700_701insTInsertion - Frameshift
HHIPL2ENSG00000143512ENST00000343410p.N317Dc.949A>GSubstitution - Missense
GPATCH4ENSG00000160818ENST00000368232p.E34Ec.102G>ASubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.?c.992+10T>AUnknown
SCN8AENSG00000196876ENST00000354534p.?c.992+10T>AUnknown
MUC2ENSG00000198788ENST00000441003p.V459Vc.1377C>GSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000307138p.G900Gc.2700G>ASubstitution - coding silent
MKKSENSG00000125863ENST00000399054p.L542Wc.1625T>GSubstitution - Missense
SNX7ENSG00000162627ENST00000306121p.R315Ic.944G>TSubstitution - Missense
NM_015976.2p.R251Ic.752G>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.L27fs*4c.77_84delCACTCGTCDeletion - Frameshift
MYO18AENSG00000196535ENST00000527372p.K129Tc.386A>CSubstitution - Missense
GPAT2ENSG00000186281ENST00000359548p.S346Lc.1037C>TSubstitution - Missense
PYCR1ENSG00000183010ENST00000337943p.?c.138+7G>AUnknown
CCDC158ENSG00000163749ENST00000388914p.R430Cc.1288C>TSubstitution - Missense
OTOFENSG00000115155ENST00000402415p.G359Dc.1076G>ASubstitution - Missense
ENST00000544929p.R213Gc.637A>GSubstitution - Missense
ADH5ENSG00000197894ENST00000296412p.?c.12+6G>TUnknown
TFE3ENSG00000068323ENST00000315869p.T444Ac.1330A>GSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.P330Ac.988C>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.D423Dc.1269T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P73Qc.218C>ASubstitution - Missense
PTK7ENSG00000112655ENST00000230419p.V829Vc.2487G>ASubstitution - coding silent
UPK3BLENSG00000267368ENST00000340457p.R184Hc.551G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.K2099Nc.6297G>TSubstitution - Missense
GTPBP1ENSG00000100226ENST00000216044p.L271Vc.811C>GSubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.L511Lc.1533A>GSubstitution - coding silent
FCN2ENSG00000160339ENST00000291744p.N89Nc.267C>TSubstitution - coding silent
ENST00000316490p.K1830Mc.5489A>TSubstitution - Missense
GPM6AENSG00000150625ENST00000393658p.Y86Yc.258C>TSubstitution - coding silent
THOC3ENSG00000051596ENST00000265097p.?c.629+9G>TUnknown
DENND2CENSG00000175984ENST00000393274p.T287Mc.860C>TSubstitution - Missense
ORMDL3ENSG00000172057ENST00000394169p.I62Lc.184A>CSubstitution - Missense
RBKSENSG00000171174ENST00000444339p.T26Tc.78C>TSubstitution - coding silent
ZNF207ENSG00000010244ENST00000394670p.R95Qc.284G>ASubstitution - Missense
RPS6KC1ENSG00000136643ENST00000366960p.S672Lc.2015C>TSubstitution - Missense
NENFENSG00000117691ENST00000366988p.A144Sc.430G>TSubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.N388Nc.1164T>CSubstitution - coding silent
WDR26ENSG00000162923ENST00000366852p.I202Mc.606C>GSubstitution - Missense
DPY19L2ENSG00000177990ENST00000324472p.R132Cc.394C>TSubstitution - Missense
OR51F2ENSG00000176925ENST00000322110p.I289Tc.866T>CSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.A563Ac.1689T>CSubstitution - coding silent
C1orf50ENSG00000164008ENST00000372525p.R101Tc.302G>CSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.E3523*c.10567G>TSubstitution - Nonsense
ENST00000313929p.S356Cc.1067C>GSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.W612Cc.1836G>CSubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.I225Tc.674T>CSubstitution - Missense
MORC4ENSG00000133131ENST00000355610p.E260Qc.778G>CSubstitution - Missense
MBNL3ENSG00000076770ENST00000370853p.T336Ac.1006A>GSubstitution - Missense
NM_015009.1p.L948Lc.2844G>ASubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.Q45Qc.135G>ASubstitution - coding silent
PPIL4ENSG00000131013ENST00000253329p.R443Cc.1327C>TSubstitution - Missense
TTLL8ENSG00000138892ENST00000440475p.?c.190+5C>AUnknown
TEX14ENSG00000121101ENST00000349033p.R983Qc.2948G>ASubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.A190Gc.569C>GSubstitution - Missense
NEXNENSG00000162614ENST00000457030p.P293Pc.879T>CSubstitution - coding silent
PDZRN3ENSG00000121440ENST00000535920p.L670Lc.2010G>ASubstitution - coding silent
TRIM25ENSG00000121060ENST00000316881p.P394Sc.1180C>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.L57Pc.170T>CSubstitution - Missense
APLFENSG00000169621ENST00000303795p.R53Qc.158G>ASubstitution - Missense
ACACBENSG00000076555ENST00000377848p.G564Gc.1692G>CSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.R3945Tc.11834G>CSubstitution - Missense
ZNF891ENSG00000214029ENST00000397313p.W10Rc.28T>CSubstitution - Missense
ASPGENSG00000166183ENST00000551177p.L334Vc.1000C>GSubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.R157Lc.470G>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.L167Vc.499C>GSubstitution - Missense
LTA4HENSG00000111144ENST00000413268p.D399Ec.1197T>GSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.S900Lc.2699C>TSubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.?c.453+8G>TUnknown
LGR4ENSG00000205213ENST00000379214p.S917Sc.2751A>GSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.G1083Ac.3248G>CSubstitution - Missense
PPIEENSG00000084072ENST00000356511p.S239Cc.716C>GSubstitution - Missense
RAD51ENSG00000051180ENST00000267868p.T48Tc.144T>CSubstitution - coding silent
RSAD1ENSG00000136444ENST00000258955p.D162Yc.484G>TSubstitution - Missense
ARHGAP27ENSG00000159314ENST00000376922p.?c.1151-9C>AUnknown
MCM8ENSG00000125885ENST00000265187p.P254Sc.760C>TSubstitution - Missense
SNRNP70ENSG00000104852ENST00000221448p.M1Vc.1A>GSubstitution - Missense
ZNF473ENSG00000142528ENST00000391821p.L23Lc.69C>TSubstitution - coding silent
FAM166BENSG00000215187ENST00000399742p.S76fs*44c.225_226insAInsertion - Frameshift
ENSG00000167765ENST00000301439p.E60fs*23c.178delGDeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.H1650Lc.4949A>TSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.M1Ic.3G>ASubstitution - Missense
TET3ENSG00000187605ENST00000409262p.K864Nc.2592G>CSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000321521p.E1142Ec.3426A>GSubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.E787Qc.2359G>CSubstitution - Missense
LRRFIP1ENSG00000124831ENST00000308482p.L37Lc.111C>TSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372922p.L390Lc.1170C>GSubstitution - coding silent
TOPAZ1ENSG00000173769ENST00000309765p.I609Fc.1825A>TSubstitution - Missense
SV2CENSG00000122012ENST00000502798p.T26Tc.78A>GSubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.L1389Lc.4167G>ASubstitution - coding silent
STAT5BENSG00000173757ENST00000293328p.I667Mc.2001C>GSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.L109Lc.327G>ASubstitution - coding silent
CEP89ENSG00000121289ENST00000590597p.H152Qc.456C>ASubstitution - Missense
USP41ENSG00000161133ENST00000454608p.?c.254+6A>GUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.P792Pc.2376C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.R2016Qc.6047G>ASubstitution - Missense
CHMP4AENSG00000254505ENST00000347519p.R147Hc.440G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D1973Dc.5919C>TSubstitution - coding silent
PLEKHS1ENSG00000148735ENST00000369310p.R213Lc.638G>TSubstitution - Missense
ENST00000300167p.P427Sc.1279C>TSubstitution - Missense
MMP20ENSG00000137674ENST00000260228p.?c.811+6A>CUnknown
TRIM58ENSG00000162722ENST00000366481p.L456Vc.1366C>GSubstitution - Missense
SYT16ENSG00000139973ENST00000430451p.L137Pc.410T>CSubstitution - Missense
MBNL3ENSG00000076770ENST00000370839p.T301Ac.901A>GSubstitution - Missense
ENST00000270620p.E184Kc.550G>ASubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.A38Ac.114C>TSubstitution - coding silent
POLR1EENSG00000137054ENST00000377792p.Y71_W74delYIVWc.198_209del12Deletion - In frame
GXYLT2ENSG00000172986ENST00000389617p.?c.601-8A>TUnknown
PYCR1ENSG00000183010ENST00000329875p.?c.138+7G>AUnknown
DRC1ENSG00000157856ENST00000288710p.E105Dc.315G>CSubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.I481Mc.1443C>GSubstitution - Missense
ENST00000272666p.S934Lc.2801C>TSubstitution - Missense
GLO1ENSG00000124767ENST00000373365p.?c.467-8T>CUnknown
IKBKAPENSG00000070061ENST00000374647p.L77Fc.231G>CSubstitution - Missense
KAL1ENSG00000011201ENST00000262648p.V618Ic.1852G>ASubstitution - Missense
BPHLENSG00000137274ENST00000380375p.S85Sc.255C>GSubstitution - coding silent
ENST00000316490_v65p.R3724Wc.11170C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.F3450Fc.10350C>TSubstitution - coding silent
SIRT1ENSG00000096717ENST00000212015p.D739Yc.2215G>TSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.H602Hc.1806C>TSubstitution - coding silent
VSIG10ENSG00000176834ENST00000359236p.R79Hc.236G>ASubstitution - Missense
ODF3ENSG00000177947ENST00000342593p.D116fs*>23c.345delTDeletion - Frameshift
PPFIBP1ENSG00000110841ENST00000318304p.S818Sc.2454C>TSubstitution - coding silent
SLC35F4ENSG00000151812ENST00000339762p.E127Qc.379G>CSubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.?c.1170_1176delGCTCTGAUnknown
RHPN2ENSG00000131941ENST00000400226p.D55Vc.164A>TSubstitution - Missense
XM_031689.7p.G114Vc.341G>TSubstitution - Missense
SIRPAENSG00000198053ENST00000356025p.A158Ac.474G>ASubstitution - coding silent
NKRFENSG00000186416ENST00000542113p.I212Ic.636T>ASubstitution - coding silent
FAM189A2ENSG00000135063ENST00000257515p.Q410Ec.1228C>GSubstitution - Missense
AFAP1ENSG00000196526ENST00000360265p.?c.2002-7C>TUnknown
SCRT1ENSG00000170616ENST00000332135p.H280Qc.840C>GSubstitution - Missense
ENST00000388944p.D84Hc.250G>CSubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.E513Kc.1537G>ASubstitution - Missense
IL17RCENSG00000163702ENST00000295981p.A758Sc.2272G>TSubstitution - Missense
ZNF860ENSG00000197385ENST00000360311p.H308Hc.924T>CSubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.P495Lc.1484C>TSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.V863Ac.2588T>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.E541*c.1621G>TSubstitution - Nonsense
POM121ENSG00000196313ENST00000257622p.I764Tc.2291T>CSubstitution - Missense
NM_001010888.1p.S43Sc.129C>TSubstitution - coding silent
KCNQ5ENSG00000185760ENST00000370398p.F282Fc.846C>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000504387p.Q611Kc.1831C>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.L496Pc.1487T>CSubstitution - Missense
TEX14ENSG00000121101ENST00000240361p.R989Qc.2966G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000413996p.T441Mc.1322C>TSubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.L589Lc.1767G>ASubstitution - coding silent
LGI4ENSG00000153902ENST00000310123p.L494Qc.1481T>ASubstitution - Missense
AGPAT2ENSG00000169692ENST00000371696p.V40Ac.119T>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.H3745Dc.11233C>GSubstitution - Missense
LPIN3ENSG00000132793ENST00000373257p.S118Wc.353C>GSubstitution - Missense
UBFD1ENSG00000103353ENST00000219638p.I25Tc.74T>CSubstitution - Missense
ETFDHENSG00000171503ENST00000511912p.T230Ic.689C>TSubstitution - Missense
N4BP3ENSG00000145911ENST00000274605p.T121Ac.361A>GSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.V24Ic.70G>ASubstitution - Missense
AP2A2ENSG00000183020ENST00000448903p.G186Gc.558C>TSubstitution - coding silent
RPS6KC1ENSG00000136643ENST00000543354p.S375Lc.1124C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.G829Sc.2485G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.P73Qc.218C>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.K253Nc.759G>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.Y813Yc.2439C>TSubstitution - coding silent
COL1A1ENSG00000108821ENST00000225964p.T172Tc.516C>TSubstitution - coding silent
OR7D4ENSG00000174667ENST00000308682p.I221Ic.663T>CSubstitution - coding silent
FAM222BENSG00000173065ENST00000341217p.L257Lc.769C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.L1547Lc.4641C>TSubstitution - coding silent
NM_017886p.T415Pc.1243A>CSubstitution - Missense
IFT80ENSG00000068885ENST00000326448p.?c.2099+10A>GUnknown
CLRN1ENSG00000163646ENST00000327047p.*233*c.698G>ASubstitution - coding silent
KCNE4ENSG00000152049ENST00000281830p.D145delDc.433_435delGATDeletion - In frame
CLASRPENSG00000104859ENST00000221455p.A189Ac.567C>TSubstitution - coding silent
PPP1R15AENSG00000087074ENST00000200453p.L151Lc.451C>TSubstitution - coding silent
KIF9ENSG00000088727ENST00000265529p.L429Lc.1287G>CSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.E2381Kc.7141G>ASubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.I507Vc.1519A>GSubstitution - Missense
PPP1R10ENSG00000204569ENST00000376511p.P258Lc.773C>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.N354Nc.1062T>CSubstitution - coding silent
HK3ENSG00000160883ENST00000292432p.?c.535-10C>AUnknown
SAPCD1ENSG00000228727ENST00000415669p.R137Tc.410G>CSubstitution - Missense
ANKS1AENSG00000064999ENST00000360359p.R750Qc.2249G>ASubstitution - Missense
TRIM5ENSG00000132256ENST00000380034p.D382Hc.1144G>CSubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.D1598Nc.4792G>ASubstitution - Missense
PPIP5K1ENSG00000168781ENST00000348806p.S275Fc.824C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.?c.7560+8G>AUnknown
ENST00000272666p.E889Kc.2665G>ASubstitution - Missense
NADKENSG00000008130ENST00000342348p.E413delEc.1238_1240delAGGDeletion - In frame
MIB2ENSG00000197530ENST00000355826p.L538Fc.1614G>CSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.A560Tc.1678G>ASubstitution - Missense
ENST00000328408p.V43Ic.127G>ASubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.L160Lc.480C>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000339063p.M575Kc.1724T>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.R513Rc.1539A>GSubstitution - coding silent
FCGR3AENSG00000203747ENST00000367969p.E75Dc.225G>CSubstitution - Missense
ENST00000338282p.T1177Tc.3531G>ASubstitution - coding silent
GPR135ENSG00000181619ENST00000395116p.W344fs*33c.1026_1027insTGInsertion - Frameshift
HAGHLENSG00000103253ENST00000389703p.E24Kc.70G>ASubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.T139Tc.417G>TSubstitution - coding silent
NM_004085.2p.E26Qc.76G>CSubstitution - Missense
DGAT1ENSG00000185000ENST00000332324p.L461Lc.1383C>TSubstitution - coding silent
C7orf55ENSG00000164898ENST00000297534p.T25Tc.75C>TSubstitution - coding silent
LRRCC1ENSG00000133739ENST00000414626p.G202Dc.605G>ASubstitution - Missense
ENST00000405167p.H994Yc.2980C>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.G1314Gc.3942G>ASubstitution - coding silent
GFPT2ENSG00000131459ENST00000253778p.E269Qc.805G>CSubstitution - Missense
TMEM198ENSG00000188760ENST00000373883p.L313Lc.939C>GSubstitution - coding silent
COX6A1P2ENSG00000226976ENST00000423336p.P83Pc.249G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.Q1086Ec.3256C>GSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.A70Vc.209C>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.P388Pc.1164C>TSubstitution - coding silent
TADA2AENSG00000108264ENST00000394395p.K216Kc.648G>ASubstitution - coding silent
SGK1ENSG00000118515ENST00000528577p.T455Mc.1364C>TSubstitution - Missense
SGK1ENSG00000118515ENST00000237305p.T427Mc.1280C>TSubstitution - Missense
MAGEA8ENSG00000156009ENST00000535454p.D113Nc.337G>ASubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.L748Rc.2243T>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.R1623Qc.4868G>ASubstitution - Missense
MINPP1ENSG00000107789ENST00000536010p.K195Rc.584A>GSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.R522Kc.1565G>ASubstitution - Missense
PTK2ENSG00000169398ENST00000340930p.P648Sc.1942C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.A1104Ac.3312G>ASubstitution - coding silent
RASGEF1AENSG00000198915ENST00000395809p.I395Ic.1185C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.D1598Nc.4792G>ASubstitution - Missense
CENPFENSG00000117724ENST00000366955p.Q1814*c.5440C>TSubstitution - Nonsense
LAMB3ENSG00000196878ENST00000367030p.A596Tc.1786G>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000323868p.C331*c.993C>ASubstitution - Nonsense
ZFP69ENSG00000187815ENST00000372706p.S508Cc.1523C>GSubstitution - Missense
ENST00000300167p.V736Vc.2208C>TSubstitution - coding silent
CAPRIN1ENSG00000135387ENST00000389645p.H502Rc.1505A>GSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.G2305Rc.6913G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.T453Tc.1359G>CSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.S684*c.2051C>GSubstitution - Nonsense
MARCH2ENSG00000099785ENST00000381035p.L9Lc.27C>TSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.E1414Qc.4240G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.M22314Rc.66941T>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.M22381Rc.67142T>GSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000345540p.Q261Ec.781C>GSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.L703Lc.2109C>ASubstitution - coding silent
LRRFIP1ENSG00000124831ENST00000392000p.L27Lc.81C>TSubstitution - coding silent
ZNF714ENSG00000160352ENST00000291770p.E134Kc.400G>ASubstitution - Missense
SULT2B1ENSG00000088002ENST00000323090p.E32Qc.94G>CSubstitution - Missense
RMDN2ENSG00000115841ENST00000234195p.N233Kc.699T>ASubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.K216Kc.648G>ASubstitution - coding silent
MAGEC3ENSG00000165509ENST00000298296p.I215Ic.645C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.?c.7563+8G>AUnknown
CDC42BPAENSG00000143776ENST00000366767p.S65Fc.194C>TSubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.A530Gc.1589C>GSubstitution - Missense
LTA4HENSG00000111144ENST00000228740p.D423Ec.1269T>GSubstitution - Missense
BEST1ENSG00000167995ENST00000378043p.Q460Hc.1380G>CSubstitution - Missense
NEBENSG00000183091ENST00000427231p.L57Lc.169C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L57Lc.169C>TSubstitution - coding silent
DRC1ENSG00000157856ENST00000439066p.D57Dc.171C>TSubstitution - coding silent
IFT172ENSG00000138002ENST00000416524p.G237Rc.709G>ASubstitution - Missense
IFT172ENSG00000138002ENST00000416524p.P176Pc.528G>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000416524p.E111Kc.331G>ASubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.?c.2146-8C>TUnknown
PDZRN3ENSG00000121440ENST00000263666p.L948Lc.2844G>ASubstitution - coding silent
PDZRN3ENSG00000121440ENST00000263666p.E679*c.2035G>TSubstitution - Nonsense
CTU2ENSG00000174177ENST00000567949p.?c.1310+1_1310+10delgtgtgggtgtUnknown
CACNA1EENSG00000198216ENST00000357570p.R2010Qc.6029G>ASubstitution - Missense
PPIP5K2ENSG00000145725ENST00000358359p.E1163Ec.3489A>GSubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.G833Sc.2497G>ASubstitution - Missense
BPHLENSG00000137274ENST00000380379p.S102Sc.306C>GSubstitution - coding silent
KCNQ5ENSG00000185760ENST00000402622p.F282Fc.846C>TSubstitution - coding silent
KCNQ5ENSG00000185760ENST00000370392p.F282Fc.846C>TSubstitution - coding silent
PTCHD4ENSG00000244694ENST00000543600p.V252Vc.756G>ASubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.L390Lc.1170C>GSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372917p.L390Lc.1170C>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.V5233Vc.15699C>GSubstitution - coding silent
ZNF117ENSG00000152926ENST00000282869p.G364Gc.1092A>GSubstitution - coding silent
NR5A1ENSG00000136931ENST00000373587p.C206Cc.618C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000359428p.S579Lc.1736C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.S579Lc.1736C>TSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.G1102Gc.3306A>GSubstitution - coding silent
NR5A1ENSG00000136931ENST00000373588p.C422Cc.1266C>TSubstitution - coding silent
FBXW5ENSG00000159069ENST00000428398p.L8Rc.23T>GSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.T477Nc.1430C>ASubstitution - Missense
MBTPS2ENSG00000012174ENST00000365779p.I245Vc.733A>GSubstitution - Missense
HDAC6ENSG00000094631ENST00000444343p.V1165Ic.3493G>ASubstitution - Missense
NM_005607p.P670Sc.2008C>TSubstitution - Missense
MMABENSG00000139428ENST00000545712p.A181Vc.542C>TSubstitution - Missense
C11orf49ENSG00000149179ENST00000378618p.D257Nc.769G>ASubstitution - Missense
CLEC1AENSG00000150048ENST00000315330p.Q88Ec.262C>GSubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.C331*c.993C>ASubstitution - Nonsense
PRB3ENSG00000197870ENST00000538488p.R60Pc.179G>CSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.V1815Vc.5445C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.G1677Gc.5031G>ASubstitution - coding silent
UBE2Q1ENSG00000160714ENST00000292211p.E209Ec.627A>GSubstitution - coding silent
TUBENSG00000166402ENST00000305253p.R114Qc.341G>ASubstitution - Missense
CYB5RLENSG00000215883ENST00000419823p.S153Fc.458C>TSubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.R125Qc.374G>ASubstitution - Missense
NOX1ENSG00000007952ENST00000372966p.S352Fc.1055C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.?c.1097+1_1097+10delgtgtgggtgtUnknown
SSX3ENSG00000165584ENST00000376895p.S42Cc.125C>GSubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.P528Pc.1584G>ASubstitution - coding silent
TTC31ENSG00000115282ENST00000233623p.P5Pc.15A>GSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.V29Gc.86T>GSubstitution - Missense
TACR1ENSG00000115353ENST00000305249p.R235Hc.704G>ASubstitution - Missense
IQCJENSG00000214216ENST00000451172p.Q54*c.160C>TSubstitution - Nonsense
CUL7ENSG00000044090ENST00000265348p.G1370Gc.4110A>GSubstitution - coding silent
CAND2ENSG00000144712ENST00000456430p.L110Lc.330C>GSubstitution - coding silent
SIX5ENSG00000177045ENST00000317578p.R187*c.559C>TSubstitution - Nonsense
PPAN-P2RY11ENSG00000243207ENST00000393796p.E316Dc.948G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.L49Lc.147C>TSubstitution - coding silent
FXYD3ENSG00000089356ENST00000346446p.C44Cc.132C>TSubstitution - coding silent
PASD1ENSG00000166049ENST00000370357p.?c.1230+7C>GUnknown
ECH1ENSG00000104823ENST00000221418p.?c.660-7T>CUnknown
ENST00000400460p.L111Lc.333A>CSubstitution - coding silent
LETM1ENSG00000168924ENST00000302787p.?c.1477-1G>AUnknown
ENST00000327733p.K101Kc.303G>ASubstitution - coding silent
LINC01124ENSG00000222033ENST00000409786p.C70delCc.208_210delTGTDeletion - In frame
ENST00000391816p.E200Kc.598G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.L57Lc.171G>ASubstitution - coding silent
PANK2ENSG00000125779ENST00000316562p.V408Vc.1224C>TSubstitution - coding silent
SLC13A3ENSG00000158296ENST00000279027p.?c.920+5C>TUnknown
MYCNENSG00000134323ENST00000281043p.E270Qc.808G>CSubstitution - Missense
CCDC148ENSG00000153237ENST00000283233p.P294fs*22c.879delTDeletion - Frameshift
EVC2ENSG00000173040ENST00000344408p.S201Wc.602C>GSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ENST00000400460p.L111Qc.332T>ASubstitution - Missense
ENST00000400460p.S47Lc.140C>TSubstitution - Missense
BCRENSG00000186716ENST00000305877p.?c.3322+9T>CUnknown
SCN1AENSG00000144285ENST00000303395p.N541Ic.1622A>TSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.E61Qc.181G>CSubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.M310Ic.930G>ASubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.G416Rc.1246G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.Q744Kc.2230C>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.Q651Kc.1951C>ASubstitution - Missense
MEGF9ENSG00000106780ENST00000426959p.P624Sc.1870C>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.R1844Wc.5530C>TSubstitution - Missense
LURAP1LENSG00000153714ENST00000319264p.S159Fc.476C>TSubstitution - Missense
FNBP1ENSG00000187239ENST00000446176p.S570Sc.1710C>TSubstitution - coding silent
FNBP1ENSG00000187239ENST00000420781p.S561Sc.1683C>TSubstitution - coding silent
FNBP1ENSG00000187239ENST00000443566p.S198Sc.594C>TSubstitution - coding silent
MPDZENSG00000107186ENST00000541718p.G1102Gc.3306A>GSubstitution - coding silent
ABCC5ENSG00000114770ENST00000334444p.T340Tc.1020A>GSubstitution - coding silent
FAM198BENSG00000164125ENST00000393807p.L51Lc.151C>TSubstitution - coding silent
FAM198BENSG00000164125ENST00000296530p.L51Lc.151C>TSubstitution - coding silent
FGFBP2ENSG00000137441ENST00000259989p.V156Mc.466G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.?c.7200+8G>AUnknown
ENST00000388903p.?c.7062+8G>AUnknown
HK3ENSG00000160883ENST00000292432p.?c.535-10C>AUnknown
GPRIN1ENSG00000169258ENST00000303991p.M148Tc.443T>CSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.F3385Fc.10155C>TSubstitution - coding silent
C4AENSG00000244731ENST00000428956p.?c.3505-8T>CUnknown
C4AENSG00000244731ENST00000428956p.?c.3505-8T>CUnknown
HLA-DQB1ENSG00000179344ENST00000399084p.T53Tc.159G>CSubstitution - coding silent
HLA-DQA2ENSG00000237541ENST00000374940p.E114Qc.340G>CSubstitution - Missense
XPO5ENSG00000124571ENST00000265351p.?c.2061-3C>TUnknown
SYNGAP1ENSG00000197283ENST00000293748p.L748Rc.2243T>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.V1502Ac.4505T>CSubstitution - Missense
HCRTR2ENSG00000137252ENST00000370862p.N171Nc.513C>TSubstitution - coding silent
FGAENSG00000171560ENST00000403106p.G332Ec.995G>ASubstitution - Missense
RAB11FIP2ENSG00000107560ENST00000369199p.Q141Ec.421C>GSubstitution - Missense
HK1ENSG00000156515ENST00000360289p.E268Dc.804G>CSubstitution - Missense
NRBF2ENSG00000148572ENST00000435510p.A29Ac.87A>CSubstitution - coding silent
PITRM1ENSG00000107959ENST00000224949p.H511Dc.1531C>GSubstitution - Missense
UVRAGENSG00000198382ENST00000538870p.I192Ic.576C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.D3357Dc.10071C>TSubstitution - coding silent
ESYT1ENSG00000139641ENST00000541590p.S324Fc.971C>TSubstitution - Missense
ELF1ENSG00000120690ENST00000239882p.N322Nc.966T>CSubstitution - coding silent
GPATCH4ENSG00000160818ENST00000438976p.E39Ec.117G>ASubstitution - coding silent
KIF21BENSG00000116852ENST00000332129p.T105Ac.313A>GSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.S65Fc.194C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.V1973Lc.5917G>TSubstitution - Missense
ENST00000398270p.G98Rc.292G>ASubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.I241Tc.722T>CSubstitution - Missense
NR2F2ENSG00000185551ENST00000421109p.Q281Qc.843A>GSubstitution - coding silent
TADA2AENSG00000108264ENST00000417170p.K216Kc.648G>ASubstitution - coding silent
KIAA0100ENSG00000007202ENST00000528896p.R1897Qc.5690G>ASubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.E160Gc.479A>GSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.?c.9612-5G>TUnknown
DNAH17ENSG00000187775ENST00000389840p.E1550Ac.4649A>CSubstitution - Missense
TOMM40ENSG00000130204ENST00000592434p.?c.537+3G>AUnknown
NEBENSG00000183091ENST00000427231p.L57Lc.171G>ASubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L57Lc.171G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.L57Pc.170T>CSubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.E454Kc.1360G>ASubstitution - Missense
SPZ1ENSG00000164299ENST00000296739p.I34fs*20c.100delADeletion - Frameshift
SHROOM2ENSG00000146950ENST00000380913p.D1313Hc.3937G>CSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.730-10T>CUnknown
PPIL6ENSG00000185250ENST00000521072p.E82Qc.244G>CSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.Q611Kc.1831C>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.Q611Kc.1831C>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.Q1091Ec.3271C>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G3246Vc.9737G>TSubstitution - Missense
UTP23ENSG00000147679ENST00000309822p.A221_S222ins18c.662_663ins54Insertion - In frame
MCM9ENSG00000111877ENST00000316316p.L848Lc.2544G>TSubstitution - coding silent
PRSS35ENSG00000146250ENST00000369700p.S151Sc.453C>TSubstitution - coding silent
ORC3ENSG00000135336ENST00000257789p.E550*c.1648G>TSubstitution - Nonsense
ZNF207ENSG00000010244ENST00000321233p.R95Qc.284G>ASubstitution - Missense
OXER1ENSG00000162881ENST00000378661p.R374Rc.1122G>ASubstitution - coding silent
RMDN2ENSG00000115841ENST00000234195p.D234Yc.700G>TSubstitution - Missense
PRKD3ENSG00000115825ENST00000379066p.?c.718-3T>CUnknown
SIX2ENSG00000170577ENST00000303077p.A182Ac.546C>GSubstitution - coding silent
TOB1ENSG00000141232ENST00000499247p.L229Vc.685C>GSubstitution - Missense
NM_005082.3p.P394Sc.1180C>TSubstitution - Missense
SCPEP1ENSG00000121064ENST00000262288p.?c.620-1G>CUnknown
TRIM37ENSG00000108395ENST00000262294p.S514Lc.1541C>TSubstitution - Missense
TRIM37ENSG00000108395ENST00000262294p.S38Rc.114C>ASubstitution - Missense
KIRREL2ENSG00000126259ENST00000262625p.K538Rc.1613A>GSubstitution - Missense
CACTINENSG00000105298ENST00000429344p.R143Qc.428G>ASubstitution - Missense
ZNF569ENSG00000196437ENST00000316950p.T657Rc.1970C>GSubstitution - Missense
APBA3ENSG00000011132ENST00000316757p.C376Gc.1126T>GSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.?c.1897-3C>AUnknown
PCDHGA12ENSG00000253159ENST00000252085p.D270Dc.810C>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.A275Ac.825G>ASubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.A275Ac.825G>ASubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.I507Vc.1519A>GSubstitution - Missense
JAKMIP2ENSG00000176049ENST00000265272p.E348*c.1042G>TSubstitution - Nonsense
ADAMTSL2ENSG00000197859ENST00000354484p.P683Pc.2049C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.T466Nc.1397C>ASubstitution - Missense
FBXW5ENSG00000159069ENST00000325285p.L8Rc.23T>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R693Kc.2078G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R693Kc.2078G>ASubstitution - Missense
SPTLC1ENSG00000090054ENST00000262554p.L390Fc.1168C>TSubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.S684Sc.2052C>GSubstitution - coding silent
SAGE1ENSG00000181433ENST00000324447p.K588Ic.1763A>TSubstitution - Missense
ARHGAP4ENSG00000089820ENST00000370028p.P736Pc.2208G>ASubstitution - coding silent
ARHGAP4ENSG00000089820ENST00000350060p.P696Pc.2088G>ASubstitution - coding silent
L1CAMENSG00000198910ENST00000370060p.N899Nc.2697C>TSubstitution - coding silent
PNMA5ENSG00000198883ENST00000361887p.I211Ic.633C>ASubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000517417p.S669Pc.2005T>CSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.Q434Kc.1300C>ASubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.P679Pc.2037T>ASubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.K441Rc.1322A>GSubstitution - Missense
BCAP29ENSG00000075790ENST00000445771p.?c.691-4_736del50Unknown
ARHGEF35ENSG00000213214ENST00000378115p.S426fs*17c.1273_1274insCInsertion - Frameshift
GSTK1ENSG00000197448ENST00000358406p.R119Wc.355C>TSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.S580Cc.1739C>GSubstitution - Missense
POM121L12ENSG00000221900ENST00000408890p.L220Lc.660G>CSubstitution - coding silent
ENST00000331340_v65p.R328Rc.984C>TSubstitution - coding silent
ENST00000316490p.R3676Wc.11026C>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.S803Tc.2407T>ASubstitution - Missense
CD97ENSG00000123146ENST00000242786p.F464Fc.1392C>TSubstitution - coding silent
CYP4F2ENSG00000186115ENST00000221700p.L482Lc.1444C>TSubstitution - coding silent
ZNF233ENSG00000159915ENST00000391958p.N205fs*2c.614_615insAInsertion - Frameshift
CHAF1AENSG00000167670ENST00000301280p.?c.1248-5C>AUnknown
PSG4ENSG00000243137ENST00000405312p.I211Tc.632T>CSubstitution - Missense
PSG9ENSG00000183668ENST00000270077p.T73Tc.219G>ASubstitution - coding silent
TBC1D9BENSG00000197226ENST00000356834p.L437Lc.1311C>TSubstitution - coding silent
TBC1D9BENSG00000197226ENST00000355235p.L437Lc.1311C>TSubstitution - coding silent
RUFY1ENSG00000176783ENST00000437570p.E366Qc.1096G>CSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.L764Lc.2292C>GSubstitution - coding silent
ENST00000539592p.?c.1288+1G>TUnknown
FAM20CENSG00000177706ENST00000313766p.S265Sc.795G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P73Qc.218C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P73Qc.218C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E2054Kc.6160G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1985Kc.5953G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.Q45Qc.135G>ASubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.I2283Lc.6847A>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.I2283Lc.6847A>CSubstitution - Missense
MBTPS2ENSG00000012174ENST00000379484p.I245Vc.733A>GSubstitution - Missense
SH3KBP1ENSG00000147010ENST00000379697p.S536Cc.1607C>GSubstitution - Missense
ACOT9ENSG00000123130ENST00000379303p.H271Rc.812A>GSubstitution - Missense
ACOT9ENSG00000123130ENST00000336430p.H262Rc.785A>GSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.L543Fc.1629G>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.L543Fc.1629G>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.E836*c.2506G>TSubstitution - Nonsense
ROCK2ENSG00000134318ENST00000315872p.E836*c.2506G>TSubstitution - Nonsense
ROCK2ENSG00000134318ENST00000315872p.E787Qc.2359G>CSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.S927Sc.2781G>ASubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.S934Lc.2801C>TSubstitution - Missense
C2orf62ENSG00000158428ENST00000289388p.L44Pc.131T>CSubstitution - Missense
TMEM198ENSG00000188760ENST00000344458p.L313Lc.939C>GSubstitution - coding silent
SU_SPEGp.A1135Ac.3405G>ASubstitution - coding silent
SU_SPEGp.?c.4147+6C>GUnknown
COL4A3ENSG00000169031ENST00000396578p.Y618Yc.1854C>TSubstitution - coding silent
ENST00000328380p.Y618Yc.1854C>TSubstitution - coding silent
UGT1A10ENSG00000242515ENST00000344644p.D216Ec.648C>ASubstitution - Missense
ENSG00000186235ENST00000334973p.?c.66-1G>AUnknown
LRRFIP1ENSG00000124831ENST00000244815p.L27Lc.81C>TSubstitution - coding silent
SERTAD2ENSG00000179833ENST00000313349p.T233Tc.699G>ASubstitution - coding silent
FANCLENSG00000115392ENST00000233741p.?c.155+9G>CUnknown
C2orf42ENSG00000115998ENST00000264434p.?c.1353+3G>CUnknown
ENST00000358511_v70p.I1148Ic.3444C>TSubstitution - coding silent
EFCAB12ENSG00000172771ENST00000505956p.P20Lc.59C>TSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.R1045Hc.3134G>ASubstitution - Missense
BRD1ENSG00000100425ENST00000342989p.R771Hc.2312G>ASubstitution - Missense
TTLL8ENSG00000138892ENST00000266182p.?c.190+5C>AUnknown
LTFENSG00000012223ENST00000231751p.E197fs*22c.589delGDeletion - Frameshift
MAP1BENSG00000131711ENST00000296755p.S470*c.1409C>ASubstitution - Nonsense
CENPHENSG00000153044ENST00000283006p.N87Nc.261T>CSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.L1313Lc.3939C>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.V5090Vc.15270C>GSubstitution - coding silent
CCZ1ENSG00000122674ENST00000325974p.?c.1394-4G>AUnknown
POM121ENSG00000196313ENST00000395270p.I764Tc.2291T>CSubstitution - Missense
ENTPD8ENSG00000188833ENST00000371506p.T310Tc.930A>GSubstitution - coding silent
ENTPD8ENSG00000188833ENST00000371506p.L62Lc.186G>ASubstitution - coding silent
ENTPD8ENSG00000188833ENST00000344119p.L62Lc.186G>ASubstitution - coding silent
IFNA6ENSG00000120235ENST00000380210p.T29Ic.86C>TSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.A623Gc.1868C>GSubstitution - Missense
XM_291321.3p.S207*c.620C>ASubstitution - Nonsense
CLN3ENSG00000188603ENST00000359984p.?c.460+3G>AUnknown
CEMP1ENSG00000205923ENST00000382350p.Q73*c.217C>TSubstitution - Nonsense
SPOPLENSG00000144228ENST00000280098p.A227Vc.680C>TSubstitution - Missense
CCDC80ENSG00000091986ENST00000206423p.F132Fc.396C>TSubstitution - coding silent
TOPBP1ENSG00000163781ENST00000260810p.?c.546-7C>GUnknown
NM_007027.2p.?c.285-7C>GUnknown
FGAENSG00000171560ENST00000302053p.G332Ec.995G>ASubstitution - Missense
SFRP2ENSG00000145423ENST00000274063p.I198Kc.593T>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.V2745Vc.8235T>CSubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.E454Kc.1360G>ASubstitution - Missense
ENST00000544929p.W211Gc.631T>GSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.G1049Dc.3146G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.L108Lc.324T>ASubstitution - coding silent
INPP4AENSG00000040933ENST00000074304p.L108Lc.324T>ASubstitution - coding silent
MORC1ENSG00000114487ENST00000232603p.R518Sc.1552C>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.E1895Kc.5683G>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.S297Yc.890C>ASubstitution - Missense
TRAPPC2LENSG00000167515ENST00000301021p.?c.374+5_374+6ins35Unknown
CTU2ENSG00000174177ENST00000453996p.?c.1097+1_1097+10delgtgtgggtgtUnknown
DEF8ENSG00000140995ENST00000268676p.Q33Hc.99G>CSubstitution - Missense
ENST00000338885p.Q217Ec.649C>GSubstitution - Missense
ENST00000338885p.L238Fc.712C>TSubstitution - Missense
CAPN13ENSG00000162949ENST00000295055p.Q435Rc.1304A>GSubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.G258Rc.772G>ASubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.P197Pc.591G>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.E132Kc.394G>ASubstitution - Missense
GCKRENSG00000084734ENST00000264717p.L137Lc.411C>TSubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.?c.2442+5G>AUnknown
FAM98AENSG00000119812ENST00000238823p.G358Gc.1074C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3551Tc.10653C>GSubstitution - coding silent
ENST00000405167p.T3551Tc.10653C>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2950Tc.8850T>GSubstitution - coding silent
ENST00000405167p.H1650Lc.4949A>TSubstitution - Missense
OR5H2ENSG00000197938ENST00000355273p.L207Wc.620T>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.?c.10175-1G>CUnknown
FRAS1ENSG00000138759ENST00000264895p.?c.10175-1G>CUnknown
LEF1ENSG00000138795ENST00000265165p.E29Kc.85G>ASubstitution - Missense
LEF1ENSG00000138795ENST00000379951p.E29Kc.85G>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.I1141Vc.3421A>GSubstitution - Missense
ABCG2ENSG00000118777ENST00000237612p.E278Ec.834A>GSubstitution - coding silent
ABCG2ENSG00000118777ENST00000237612p.E278Ec.834A>GSubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.P330Lc.989C>TSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.P225Lc.674C>TSubstitution - Missense
ENST00000336239p.T444Ac.1330A>GSubstitution - Missense
HDAC6ENSG00000094631ENST00000334136p.V1151Ic.3451G>ASubstitution - Missense
SSX3ENSG00000165584ENST00000298396p.S130Cc.389C>GSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.L434Lc.1302C>TSubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.L434Lc.1302C>TSubstitution - coding silent
ZNF470ENSG00000197016ENST00000330619p.T204Ac.610A>GSubstitution - Missense
ZSCAN5CENSG00000204532ENST00000534327p.V169fs*42c.504_505delTGDeletion - Frameshift
ZNF814ENSG00000204514ENST00000435989p.Y352_Y408del57c.1054_1224del171Deletion - In frame
ZNF446ENSG00000083838ENST00000335841p.P331Pc.993C>TSubstitution - coding silent
CD300LBENSG00000178789ENST00000392621p.T238Ic.713C>TSubstitution - Missense
SOX9ENSG00000125398ENST00000245479p.E75*c.223G>TSubstitution - Nonsense
MRPS7ENSG00000125445ENST00000245539p.A3Dc.8C>ASubstitution - Missense
NT5CENSG00000125458ENST00000245552p.D133Ec.399C>GSubstitution - Missense
SOWAHCENSG00000198142ENST00000356454p.N326Kc.978C>GSubstitution - Missense
SOWAHCENSG00000198142ENST00000356454p.G407Vc.1220G>TSubstitution - Missense
CCDC138ENSG00000163006ENST00000295124p.R312Rc.936G>ASubstitution - coding silent
ZNF860ENSG00000197385ENST00000360311p.H308Hc.924T>CSubstitution - coding silent
XYLBENSG00000093217ENST00000207870p.A81Tc.241G>ASubstitution - Missense
PDLIM5ENSG00000163110ENST00000317968p.G178Ac.533G>CSubstitution - Missense
ULK4ENSG00000168038ENST00000301831p.T415Pc.1243A>CSubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
MAN2A1ENSG00000112893ENST00000261483p.F427Fc.1281C>TSubstitution - coding silent
ENST00000233310p.K141Nc.423G>CSubstitution - Missense
DOK1ENSG00000115325ENST00000233668p.Y341Hc.1021T>CSubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000485419p.Q54*c.160C>TSubstitution - Nonsense
ARHGEF26ENSG00000114790ENST00000356448p.V29Gc.86T>GSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000465817p.V29Gc.86T>GSubstitution - Missense
MFSD1ENSG00000118855ENST00000415822p.?c.1224+4_1224+5insTAUnknown
MFSD1ENSG00000118855ENST00000264266p.?c.1077+4_1077+5insTAUnknown
FAT4ENSG00000196159ENST00000394329p.T2349Kc.7046C>ASubstitution - Missense
ENST00000330166p.T2349Kc.7046C>ASubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.G109Ec.326G>ASubstitution - Missense
PIGUENSG00000101464ENST00000217446p.T198Nc.593C>ASubstitution - Missense
PROKR2ENSG00000101292ENST00000217270p.I157Ic.471C>TSubstitution - coding silent
MCM8ENSG00000125885ENST00000378896p.P254Sc.760C>TSubstitution - Missense
ENST00000334187_v71p.D384fs*2c.1151delADeletion - Frameshift
FAM71F2ENSG00000205085ENST00000480462p.F166Fc.498C>TSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.A308Vc.923C>TSubstitution - Missense
ENST00000537504p.S76fs*44c.225_226insAInsertion - Frameshift
CNTNAP3BENSG00000154529ENST00000377564p.A594Tc.1780G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.D944Hc.2830G>CSubstitution - Missense
KANK1ENSG00000107104ENST00000382286p.D14Hc.40G>CSubstitution - Missense
FAM189A2ENSG00000135063ENST00000377216p.Q197Ec.589C>GSubstitution - Missense
FOXD4L5ENSG00000204779ENST00000377420p.R15Hc.44G>ASubstitution - Missense
FLNBENSG00000136068ENST00000490882p.R522Kc.1565G>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.R522Kc.1565G>ASubstitution - Missense
HESX1ENSG00000163666ENST00000295934p.R112Tc.335G>CSubstitution - Missense
INTS10ENSG00000104613ENST00000397977p.Q654Ec.1960C>GSubstitution - Missense
CPNE3ENSG00000085719ENST00000198765p.?c.1068+7G>AUnknown
KCNS2ENSG00000156486ENST00000287042p.I302Ic.906C>TSubstitution - coding silent
NDUFAF6ENSG00000156170ENST00000396124p.L217Fc.651G>CSubstitution - Missense
KIAA1429ENSG00000164944ENST00000421249p.S784delSc.2349_2351delCAGDeletion - In frame
FOXE1ENSG00000178919ENST00000375123p.R44Cc.130C>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.T2085Ic.6254C>TSubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.?c.905-7C>TUnknown
C17orf62ENSG00000178927ENST00000306645p.A38Gc.113C>GSubstitution - Missense
SIRT7ENSG00000187531ENST00000328666p.G373Dc.1118G>ASubstitution - Missense
TMPRSS3ENSG00000160183ENST00000291532p.H359Yc.1075C>TSubstitution - Missense
KRTAP10-6ENSG00000188155ENST00000400368p.V19Ic.55G>ASubstitution - Missense
ENST00000397994p.P203Lc.608C>TSubstitution - Missense
ENST00000420871_v68p.D856fs*1c.2564_2565insCInsertion - Frameshift
ANKRD36CENSG00000174501ENST00000420871p.D856fs*1c.2564_2565insCInsertion - Frameshift
NM_015009.1p.E679*c.2035G>TSubstitution - Nonsense
ENST00000505256p.T1766Ic.5297C>TSubstitution - Missense
ARL13BENSG00000169379ENST00000394222p.Q297Hc.891A>TSubstitution - Missense
ARL13BENSG00000169379ENST00000303097p.Q190Hc.570A>TSubstitution - Missense
CAV3ENSG00000182533ENST00000397368p.F97Fc.291C>TSubstitution - coding silent
AFAP1ENSG00000196526ENST00000420658p.?c.2254-7C>TUnknown
CCDC158ENSG00000163749ENST00000388914p.I113Tc.338T>CSubstitution - Missense
NAGPAENSG00000103174ENST00000312251p.?c.1276+10C>TUnknown
PIP4K2BENSG00000141720ENST00000269554p.E159Dc.477G>CSubstitution - Missense
KRTAP9-9ENSG00000198083ENST00000394008p.C76*c.228C>ASubstitution - Nonsense
RIPPLY3ENSG00000183145ENST00000329553p.D48Nc.142G>ASubstitution - Missense
CORINENSG00000145244ENST00000273857p.P344Tc.1030C>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.E890Qc.2668G>CSubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.E922Qc.2764G>CSubstitution - Missense
SU_Erk7p.L458Fc.1374G>CSubstitution - Missense
SU_Erk7p.T459Ac.1375A>GSubstitution - Missense
ENST00000292520p.T233Tc.699C>GSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.L490Lc.1470C>GSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.?c.1291-3C>GUnknown
SLC14A2ENSG00000132874ENST00000255226p.W762*c.2285G>ASubstitution - Nonsense
LRRCC1ENSG00000133739ENST00000360375p.G222Dc.665G>ASubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.V1228Vc.3684G>ASubstitution - coding silent
NLRP2ENSG00000022556ENST00000543010p.E570Ec.1710G>ASubstitution - coding silent
EBF4ENSG00000088881ENST00000380648p.?c.126-10C>TUnknown
NINLENSG00000101004ENST00000278886p.N1081Kc.3243C>GSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.S123Gc.367A>GSubstitution - Missense
ENST00000356127p.I30572Tc.91715T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I24269Tc.72806T>CSubstitution - Missense
NM_003319p.I24077Tc.72230T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.M28686Rc.86057T>GSubstitution - Missense
ENST00000356127p.M28684Rc.86051T>GSubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.D1374Hc.4120G>CSubstitution - Missense
ENST00000388944p.E124Qc.370G>CSubstitution - Missense
SLC22A15ENSG00000163393ENST00000369503p.E523Dc.1569G>CSubstitution - Missense
GABPB2ENSG00000143458ENST00000368918p.T403Ic.1208C>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.Q1867*c.5599C>TSubstitution - Nonsense
UBR1ENSG00000159459ENST00000290650p.?c.1440-5G>AUnknown
UBR1ENSG00000159459ENST00000290650p.G7Vc.20G>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.P1506Sc.4516C>TSubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.R516Cc.1546C>TSubstitution - Missense
CKMT1BENSG00000237289ENST00000300283p.P317Pc.951A>GSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.G900Gc.2700G>ASubstitution - coding silent
ENST00000266524p.P693Pc.2079A>GSubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000228425p.S812Sc.2436C>TSubstitution - coding silent
S100A5ENSG00000196420ENST00000359215p.H16Hc.48C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.Q650*c.1948C>TSubstitution - Nonsense
DENND4BENSG00000198837ENST00000361217p.R784Rc.2352G>TSubstitution - coding silent
NAV1ENSG00000134369ENST00000367296p.?c.3322-3C>TUnknown
SLC41A1ENSG00000133065ENST00000367137p.S271Sc.813A>GSubstitution - coding silent
RSL24D1ENSG00000137876ENST00000260443p.Y14Cc.41A>GSubstitution - Missense
PIDDENSG00000177595ENST00000347755p.G26delGc.75_78AGGG>TDeletion - In frame
PIDDENSG00000177595ENST00000347755p.G26delGc.75_78AGGG>TDeletion - In frame
NCOR2ENSG00000196498ENST00000405201p.A2383Vc.7148C>TSubstitution - Missense
OR1C1ENSG00000221888ENST00000408896p.Q235Hc.705G>CSubstitution - Missense
OR2G6ENSG00000188558ENST00000343414p.V126Vc.378C>GSubstitution - coding silent
TRNAU1APENSG00000180098ENST00000373830p.S171Nc.512G>ASubstitution - Missense
TNNI3KENSG00000116783ENST00000326637p.E222Qc.664G>CSubstitution - Missense
NEXNENSG00000162614ENST00000334785p.P307Pc.921T>CSubstitution - coding silent
ENST00000339762_v65p.E127Qc.379G>CSubstitution - Missense
ENST00000358254p.L137Pc.410T>CSubstitution - Missense
NM_006255p.F97Fc.291C>TSubstitution - coding silent
DIS3LENSG00000166938ENST00000319212p.Y590Hc.1768T>CSubstitution - Missense
AGRNENSG00000188157ENST00000379370p.?c.1999+5G>AUnknown
CCDC18ENSG00000122483ENST00000334652p.E929Qc.2785G>CSubstitution - Missense
ANKRD10ENSG00000088448ENST00000267339p.S219Sc.657A>GSubstitution - coding silent
PARP4ENSG00000102699ENST00000381989p.C1051Cc.3153C>TSubstitution - coding silent
EIF2AK4ENSG00000128829ENST00000263791p.R680Gc.2038C>GSubstitution - Missense
PGBD4ENSG00000182405ENST00000397766p.E19Qc.55G>CSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.L617Lc.1851C>GSubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.L617Lc.1851C>GSubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.?c.1843-10A>CUnknown
INO80ENSG00000128908ENST00000361937p.W612Cc.1836G>CSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.K503Ec.1507A>GSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.L345Lc.1035C>TSubstitution - coding silent
KANSL1ENSG00000120071ENST00000262419p.L270Lc.810G>ASubstitution - coding silent
SPNS3ENSG00000182557ENST00000355530p.I64Ic.192C>TSubstitution - coding silent
COL1A1ENSG00000108821ENST00000225964p.?c.1516-6A>CUnknown
RIN2ENSG00000132669ENST00000255006p.T37Tc.111G>ASubstitution - coding silent
SIRPAENSG00000198053ENST00000400068p.A158Ac.474G>ASubstitution - coding silent
NKRFENSG00000186416ENST00000371527p.I197Ic.591T>ASubstitution - coding silent
ENST00000429478p.P626Ac.1876C>GSubstitution - Missense
EMR1ENSG00000174837ENST00000312053p.Y55Cc.164A>GSubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.P503Pc.1509G>CSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.S658*c.1973C>GSubstitution - Nonsense
ARHGEF18ENSG00000104880ENST00000359920p.P51Pc.153G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.H9993Nc.29977C>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G624*c.1870G>TSubstitution - Nonsense
COL4A6ENSG00000197565ENST00000394872p.G625*c.1873G>TSubstitution - Nonsense
NM_024657.2p.E83Qc.247G>CSubstitution - Missense
TCEAL5ENSG00000204065ENST00000372680p.R101Qc.302G>ASubstitution - Missense
GPRASP2ENSG00000158301ENST00000543253p.F292Fc.876C>TSubstitution - coding silent
ENST00000300671p.E1551Ac.4652A>CSubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.L27fs*4c.77_84delCACTCGTCDeletion - Frameshift
ZNF726ENSG00000213967ENST00000322487p.Q548fs*9c.1639_1642delAATCDeletion - Frameshift
SLC7A10ENSG00000130876ENST00000253188p.R410Hc.1229G>ASubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.H152Qc.456C>ASubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.H103Dc.307C>GSubstitution - Missense
UVRAGENSG00000198382ENST00000356136p.I636Ic.1908C>TSubstitution - coding silent
ENST00000368915p.?c.2501-216_3281-218del6494Unknown
DMBT1ENSG00000187908ENST00000368909p.?c.2501-216_3281-218del6494Unknown
OR5P3ENSG00000182334ENST00000328375p.?c.1_856del856Unknown
ENST00000368643p.S473Cc.1417A>TSubstitution - Missense
MTG1ENSG00000148824ENST00000317502p.L314Lc.942G>ASubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.A1040Tc.3118G>ASubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.A1040Tc.3118G>ASubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.L192Lc.574C>TSubstitution - coding silent
ENST00000299234p.L362Vc.1084C>GSubstitution - Missense
DAKENSG00000149476ENST00000394900p.G311Dc.932G>ASubstitution - Missense
TMEM179BENSG00000185475ENST00000333449p.N161Yc.481A>TSubstitution - Missense
TMEM179BENSG00000185475ENST00000333449p.?c.498+5G>CUnknown
BEST1ENSG00000167995ENST00000449131p.Q400Hc.1200G>CSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.I3199Vc.9595A>GSubstitution - Missense
ENST00000341155p.R434Hc.1301G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1252Pc.3756T>ASubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1024Tc.3070C>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.A1094_A1095ins11c.3263_3264ins33Insertion - In frame
NLRP3ENSG00000162711ENST00000391828p.E607*c.1819G>TSubstitution - Nonsense
AHCTF1ENSG00000153207ENST00000391829p.Q392Qc.1176G>ASubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.L167Vc.499C>GSubstitution - Missense
RAB11FIP2ENSG00000107560ENST00000355624p.Q141Ec.421C>GSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000361048p.R219Lc.656G>TSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.P510Rc.1529C>GSubstitution - Missense
GXYLT1ENSG00000151233ENST00000398675p.L306Fc.916C>TSubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.D45Dc.135T>CSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.M2322Ic.6966G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.M2322Ic.6966G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.G650Vc.1949G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.G690Vc.2069G>TSubstitution - Missense
ENST00000567107_v68p.E205Dc.615G>CSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000567107p.E205Dc.615G>CSubstitution - Missense
FAM78BENSG00000188859ENST00000354422p.G99Gc.297G>CSubstitution - coding silent
NOS1APENSG00000198929ENST00000361897p.?c.453+8G>TUnknown
ABCC8ENSG00000006071ENST00000389817p.L47Lc.141C>ASubstitution - coding silent
KRTAP5-1ENSG00000205869ENST00000382171p.G20Sc.58G>ASubstitution - Missense
QSOX1ENSG00000116260ENST00000367602p.I439Ic.1317C>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.G1677Gc.5031G>ASubstitution - coding silent
MUC2ENSG00000198788ENST00000359061p.V459Vc.1377C>GSubstitution - coding silent
CCDC34ENSG00000109881ENST00000328697p.R49Hc.146G>ASubstitution - Missense
CCDC34ENSG00000109881ENST00000317945p.R49Hc.146G>ASubstitution - Missense
TSPAN32ENSG00000064201ENST00000182290p.L290Vc.868C>GSubstitution - Missense
CAPRIN1ENSG00000135387ENST00000341394p.H502Rc.1505A>GSubstitution - Missense
FMO5ENSG00000131781ENST00000254090p.T110Ac.328A>GSubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.P557Pc.1671G>ASubstitution - coding silent
ABCC6ENSG00000091262ENST00000205557p.?c.2070+3G>AUnknown
TSC2ENSG00000103197ENST00000219476p.V296Mc.886G>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.T1314Tc.3942A>GSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.T918Ac.2752A>GSubstitution - Missense
PTGR2ENSG00000140043ENST00000267568p.E246Ec.738G>ASubstitution - coding silent
ZFYVE1ENSG00000165861ENST00000556143p.Q161Ec.481C>GSubstitution - Missense
SYNMENSG00000182253ENST00000328642p.L959Lc.2877T>CSubstitution - coding silent
NR2F2ENSG00000185551ENST00000394166p.Q414Qc.1242A>GSubstitution - coding silent
NRBF2ENSG00000148572ENST00000277746p.A39Ac.117A>CSubstitution - coding silent
HK1ENSG00000156515ENST00000404387p.E284Dc.852G>CSubstitution - Missense
HK1ENSG00000156515ENST00000359426p.E280Dc.840G>CSubstitution - Missense
PPIEENSG00000084072ENST00000324379p.S239Cc.716C>GSubstitution - Missense
PRB3ENSG00000197870ENST00000381842p.R60Pc.179G>CSubstitution - Missense
RFC5ENSG00000111445ENST00000454402p.E233Kc.697G>ASubstitution - Missense
LRRC43ENSG00000158113ENST00000339777p.V398_E399insTEEVc.1172_1173ins12Insertion - In frame
LRRC43ENSG00000158113ENST00000425921p.V213_E214insTEEVc.617_618ins12Insertion - In frame
LRRC43ENSG00000158113ENST00000339777p.V398_E399insTEEVc.1193_1194ins12Insertion - In frame
LRRC43ENSG00000158113ENST00000425921p.V213_E214insTEEVc.638_639ins12Insertion - In frame
CDH1ENSG00000039068ENST00000261769p.E243*c.727G>TSubstitution - Nonsense
SULF2ENSG00000196562ENST00000359930p.R825Qc.2474G>ASubstitution - Missense
HIST1H1CENSG00000187837ENST00000343677p.A180Ac.540G>ASubstitution - coding silent
ZNF117ENSG00000152926ENST00000282869p.G364Ec.1091G>ASubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.T287Mc.860C>TSubstitution - Missense
CXCL9ENSG00000138755ENST00000264888p.R114Qc.341G>ASubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.N979Sc.2936A>GSubstitution - Missense
RPH3AENSG00000089169ENST00000389385p.D321Nc.961G>ASubstitution - Missense
ZNF296ENSG00000170684ENST00000303809p.E474Kc.1420G>ASubstitution - Missense
ENST00000005905p.R1897Qc.5690G>ASubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.?c.2545-1G>AUnknown
ENST00000389700p.E24Kc.70G>ASubstitution - Missense
ORC3ENSG00000135336ENST00000257789p.K492Nc.1476G>CSubstitution - Missense
ENST00000395214p.P600Sc.1798C>TSubstitution - Missense
NM_001184p.Q1926Hc.5778G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S13945Sc.41835G>ASubstitution - coding silent
NM_003319p.S13820Sc.41460G>ASubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.E889Kc.2665G>ASubstitution - Missense
PTCHD4ENSG00000244694ENST00000339488p.V269Vc.807G>ASubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.L1389Lc.4167G>ASubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.P14Pc.42A>CSubstitution - coding silent
ENST00000358511_v70p.T179Tc.537G>ASubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.T179Tc.537G>ASubstitution - coding silent
HNF4GENSG00000164749ENST00000396423p.R251Cc.751C>TSubstitution - Missense
NM_004133.3p.R214Cc.640C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S20317Sc.60951G>ASubstitution - coding silent
NADKENSG00000008130ENST00000344463p.E590delEc.1769_1771delAGGDeletion - In frame
MUC4ENSG00000145113ENST00000463781p.V3742Ic.11224G>ASubstitution - Missense
ENST00000405167p.A3742Tc.11224G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.V1973Lc.5917G>TSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.A1009Tc.3025G>ASubstitution - Missense
ESYT1ENSG00000139641ENST00000394048p.S324Fc.971C>TSubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.Y234Yc.702C>TSubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.L1131Lc.3393G>ASubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.L1131Lc.3393G>ASubstitution - coding silent
BAZ2AENSG00000076108ENST00000379441p.L1167Lc.3501G>ASubstitution - coding silent
AKAP11ENSG00000023516ENST00000025301p.N724delNc.2168_2170delATADeletion - In frame
PTPN11ENSG00000179295ENST00000351677p.R47Kc.140G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.R3983Tc.11948G>CSubstitution - Missense
GPR18ENSG00000125245ENST00000340807p.N213Yc.637A>TSubstitution - Missense
PITRM1ENSG00000107959ENST00000451104p.H479Dc.1435C>GSubstitution - Missense
RASGEF1AENSG00000198915ENST00000395809p.G18Rc.52G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.S65Fc.194C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.S65Fc.194C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.L1398Lc.4192T>CSubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.L1803Lc.5407T>CSubstitution - coding silent
KAT6BENSG00000156650ENST00000287239p.R594Tc.1781G>CSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.S1924Yc.5771C>ASubstitution - Missense
NUTM2DENSG00000214562ENST00000381697p.V43Vc.129A>GSubstitution - coding silent
MINPP1ENSG00000107789ENST00000371996p.K396Rc.1187A>GSubstitution - Missense
NUTM2DENSG00000214562ENST00000412718p.V43Vc.129A>GSubstitution - coding silent
LCORENSG00000196233ENST00000371103p.E192Kc.574G>ASubstitution - Missense
TTC24ENSG00000187862ENST00000368237p.E434Qc.1300G>CSubstitution - Missense
TTC24ENSG00000187862ENST00000368237p.Q570Kc.1708C>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.K253Nc.759G>TSubstitution - Missense
DISC1ENSG00000162946ENST00000366636p.A530Gc.1589C>GSubstitution - Missense
PGBD5ENSG00000177614ENST00000321327p.R361Rc.1083G>CSubstitution - coding silent
NOC4LENSG00000184967ENST00000330579p.I314Mc.942C>GSubstitution - Missense
NOC4LENSG00000184967ENST00000330579p.?c.1234+10G>AUnknown
ZNF605ENSG00000196458ENST00000360187p.K334Nc.1002G>CSubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.L587Lc.1761C>TSubstitution - coding silent


COSMIC

3 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
BRAFENSG00000157764ENST00000288602p.I326Tc.977T>CSubstitution - Missense19593635
CDH1ENSG00000039068ENST00000261769p.E243*c.727G>TSubstitution - Nonsense19593635
BRAFENSG00000157764ENST00000288602p.I326Tc.977T>CSubstitution - Missense17314276