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NB-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1078 mutations reported
359 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
CCDC80ENSG00000091986ENST00000206423p.T384Mc.1151C>TSubstitution - Missense
PTK2BENSG00000120899ENST00000397497p.T546Mc.1637C>TSubstitution - Missense
LRRC6ENSG00000129295ENST00000250173p.R442Qc.1325G>ASubstitution - Missense
TP63ENSG00000073282ENST00000264731p.S184Lc.551C>TSubstitution - Missense
HNRNPH3ENSG00000096746ENST00000265866p.Y285Yc.855C>TSubstitution - coding silent
GIPC3ENSG00000179855ENST00000322315p.R225Cc.673C>TSubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.P1051Lc.3152C>TSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.V1659Fc.4975G>TSubstitution - Missense
ZNF678ENSG00000181450ENST00000397097p.R396Kc.1187G>ASubstitution - Missense
STPG2ENSG00000163116ENST00000295268p.R341Ic.1022G>TSubstitution - Missense
MBD4ENSG00000129071ENST00000249910p.R378Cc.1132C>TSubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.A88Vc.263C>TSubstitution - Missense
PPFIBP2ENSG00000166387ENST00000299492p.S832Lc.2495C>TSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.D494Dc.1482C>TSubstitution - coding silent
TCTN2ENSG00000168778ENST00000303372p.H606Qc.1818C>GSubstitution - Missense
RNASEH2BENSG00000136104ENST00000336617p.L57Qc.170T>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000389798p.R678*c.2032C>TSubstitution - Nonsense
TSC22D1ENSG00000102804ENST00000458659p.N337Sc.1010A>GSubstitution - Missense
NUFIP1ENSG00000083635ENST00000379161p.K258delKc.772_774delAAGDeletion - In frame
GOLGA6AENSG00000159289ENST00000290438p.T51fs*25c.144_145insAAInsertion - Frameshift
MMP19ENSG00000123342ENST00000322569p.H189fs*13c.565_574del10Deletion - Frameshift
NCKAP1LENSG00000123338ENST00000293373p.L265Lc.795T>ASubstitution - coding silent
IGFBP6ENSG00000167779ENST00000301464p.S120fs*13c.357delGDeletion - Frameshift
SYNJ2ENSG00000078269ENST00000355585p.R874Wc.2620C>TSubstitution - Missense
NM_138995p.Q1122Ec.3364C>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.L3789Rc.11366T>GSubstitution - Missense
LARP4BENSG00000107929ENST00000316157p.T39Kc.116C>ASubstitution - Missense
RPP30ENSG00000148688ENST00000371703p.S13Cc.38C>GSubstitution - Missense
HSPG2ENSG00000142798ENST00000453796p.R36Lc.107G>TSubstitution - Missense
GPRIN2ENSG00000204175ENST00000374317p.L418Lc.1254G>TSubstitution - coding silent
SLC15A1ENSG00000088386ENST00000376503p.?c.1149+5G>CUnknown
ABCC4ENSG00000125257ENST00000376887p.G430Gc.1290C>TSubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.G430Gc.1290C>TSubstitution - coding silent
BRAPENSG00000089234ENST00000419234p.E314*c.940G>TSubstitution - Nonsense
DAOENSG00000110887ENST00000228476p.?c.310-1G>TUnknown
THSD1ENSG00000136114ENST00000258613p.T805Nc.2414C>ASubstitution - Missense
C1orf131ENSG00000143633ENST00000366649p.R177Wc.529C>TSubstitution - Missense
ABCB10ENSG00000135776ENST00000344517p.R559Cc.1675C>TSubstitution - Missense
NOP2ENSG00000111641ENST00000399466p.K475Rc.1424A>GSubstitution - Missense
HELBENSG00000127311ENST00000247815p.K149Rc.446A>GSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.F718Fc.2154C>TSubstitution - coding silent
GPR182ENSG00000166856ENST00000300098p.R84Rc.252G>ASubstitution - coding silent
PRCCENSG00000143294ENST00000271526p.D417Dc.1251C>TSubstitution - coding silent
IQGAP3ENSG00000183856ENST00000361170p.F1628Cc.4883T>GSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.I1135Vc.3403A>GSubstitution - Missense
RAPSNENSG00000165917ENST00000298854p.V32Mc.94G>ASubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.V852Ic.2554G>ASubstitution - Missense
C11orf40ENSG00000171987ENST00000307616p.D64Nc.190G>ASubstitution - Missense
GRAMD1BENSG00000023171ENST00000529750p.A454Ac.1362G>ASubstitution - coding silent
GRAMD1BENSG00000023171ENST00000322282p.A454Ac.1362G>ASubstitution - coding silent
ZNF839ENSG00000022976ENST00000442396p.R252Qc.755G>ASubstitution - Missense
ENST00000333815p.H1007Rc.3020A>GSubstitution - Missense
ENST00000368915p.?c.2501-216_3281-218del6494Unknown
DMBT1ENSG00000187908ENST00000368909p.?c.2501-216_3281-218del6494Unknown
USP35ENSG00000118369ENST00000529308p.S597Tc.1789T>ASubstitution - Missense
XM_290527.3p.S353Tc.1057T>ASubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.A1492Tc.4474G>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.G88Dc.263G>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000338602p.G88Dc.263G>ASubstitution - Missense
MTHFSENSG00000136371ENST00000258874p.I179Vc.535A>GSubstitution - Missense
FAM186AENSG00000185958ENST00000327337p.?c.7034+1G>AUnknown
FAM186AENSG00000185958ENST00000327337p.?c.359+1G>AUnknown
FMNL3ENSG00000161791ENST00000335154p.?c.1797+8G>CUnknown
ADCY6ENSG00000174233ENST00000307885p.I836Ic.2508C>TSubstitution - coding silent
ENST00000279593p.G459Gc.1377G>TSubstitution - coding silent
ATF7IPENSG00000171681ENST00000261168p.N934Hc.2800A>CSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.E935Kc.2803G>ASubstitution - Missense
ENST00000298715p.R427Wc.1279C>TSubstitution - Missense
VWA2ENSG00000165816ENST00000392982p.?c.2123-6T>CUnknown
IL22RA1ENSG00000142677ENST00000270800p.A313Tc.937G>ASubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.V1008Ac.3023T>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.P2873Pc.8619C>GSubstitution - coding silent
IGHMBP2ENSG00000132740ENST00000255078p.H122Hc.366C>TSubstitution - coding silent
NDUFV1ENSG00000167792ENST00000322776p.P73Pc.219C>TSubstitution - coding silent
ANKRD13DENSG00000172932ENST00000511455p.A518Gc.1553C>GSubstitution - Missense
DAKENSG00000149476ENST00000394900p.I220Ic.660C>ASubstitution - coding silent
OR5A2ENSG00000172324ENST00000302040p.H314Hc.942C>TSubstitution - coding silent
PRKD1ENSG00000184304ENST00000331968p.E493Kc.1477G>ASubstitution - Missense
SDR39U1ENSG00000100445ENST00000399390p.P5Qc.14C>ASubstitution - Missense
POTEGENSG00000222036ENST00000409832p.A53Sc.157G>TSubstitution - Missense
AKT1ENSG00000142208ENST00000349310p.R76Rc.228C>TSubstitution - coding silent
CLSPNENSG00000092853ENST00000318121p.?c.3748-5C>TUnknown
NM_014448.2p.S130Fc.389C>TSubstitution - Missense
ARHGEF16ENSG00000130762ENST00000413250p.S122Fc.365C>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.Y1022Yc.3066T>CSubstitution - coding silent
ZBTB37ENSG00000185278ENST00000367702p.D277Dc.831T>CSubstitution - coding silent
MROH9ENSG00000117501ENST00000367759p.S176Sc.528T>CSubstitution - coding silent
KLENSG00000133116ENST00000380099p.G952Gc.2856T>CSubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.?c.1092+3A>CUnknown
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.G981Gc.2943C>TSubstitution - coding silent
COL2A1ENSG00000139219ENST00000337299p.G912Gc.2736C>TSubstitution - coding silent
HDAC7ENSG00000061273ENST00000080059p.L982Lc.2946G>ASubstitution - coding silent
MYBPC1ENSG00000196091ENST00000361466p.D110Yc.328G>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.D85Yc.253G>TSubstitution - Missense
CEP57ENSG00000166037ENST00000325542p.Q194Rc.581A>GSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.R1140Qc.3419G>ASubstitution - Missense
KIAA1377ENSG00000110318ENST00000263468p.R1079*c.3235A>TSubstitution - Nonsense
ARHGEF12ENSG00000196914ENST00000397843p.I365Mc.1095C>GSubstitution - Missense
NM_182557.1p.S705Gc.2113A>GSubstitution - Missense
ENST00000392849p.S705Gc.2113A>GSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000445164p.G48Gc.144G>TSubstitution - coding silent
REXO2ENSG00000076043ENST00000265881p.?c.148-1G>CUnknown
NCAM1ENSG00000149294ENST00000316851p.V813Ic.2437G>ASubstitution - Missense
ENST00000316851_v65p.V813Ic.2437G>ASubstitution - Missense
C12orf57ENSG00000111678ENST00000229281p.A9Ac.27G>ASubstitution - coding silent
GNB3ENSG00000111664ENST00000229264p.R219Cc.655C>TSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.Q1333Kc.3997C>ASubstitution - Missense
AXDND1ENSG00000162779ENST00000367618p.Y790Cc.2369A>GSubstitution - Missense
TNRENSG00000116147ENST00000367674p.L744Ic.2230C>ASubstitution - Missense
ENST00000299136p.M300Kc.899T>ASubstitution - Missense
GLB1L2ENSG00000149328ENST00000339772p.A210Tc.628G>ASubstitution - Missense
SH2D1BENSG00000198574ENST00000367929p.P100Pc.300A>GSubstitution - coding silent
C1orf226ENSG00000239887ENST00000426197p.G72Sc.214G>ASubstitution - Missense
C1orf226ENSG00000239887ENST00000426197p.G72Sc.214G>ASubstitution - Missense
ENTPD5ENSG00000187097ENST00000334696p.H266fs*17c.796_808del13Deletion - Frameshift
ENST00000328595p.A48Ac.144G>ASubstitution - coding silent
GPR158ENSG00000151025ENST00000376351p.R715Qc.2144G>ASubstitution - Missense
ACSM5ENSG00000183549ENST00000331849p.W90Cc.270G>TSubstitution - Missense
IGFALSENSG00000099769ENST00000215539p.A355Ac.1065G>ASubstitution - coding silent
ENST00000338282p.R677Rc.2031C>TSubstitution - coding silent
RRN3ENSG00000085721ENST00000198767p.E312Kc.934G>ASubstitution - Missense
DENND1BENSG00000213047ENST00000235453p.T78Rc.233C>GSubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.A246Ac.738C>TSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.D3530Yc.10588G>TSubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.D646Yc.1936G>TSubstitution - Missense
RCN1ENSG00000049449ENST00000054950p.R170Cc.508C>TSubstitution - Missense
SCMH1ENSG00000010803ENST00000337495p.P79Pc.237C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.L2029Fc.6085C>TSubstitution - Missense
FOSL1ENSG00000175592ENST00000312562p.R149Rc.445C>ASubstitution - coding silent
ENSG00000212743ENST00000391437p.V93Ic.277G>ASubstitution - Missense
RHOBTB1ENSG00000072422ENST00000357917p.G516Gc.1548G>TSubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.M1250Ic.3750G>TSubstitution - Missense
A1CFENSG00000148584ENST00000373995p.P549Sc.1645C>TSubstitution - Missense
A1CFENSG00000148584ENST00000374001p.P541Sc.1621C>TSubstitution - Missense
ENST00000426033p.V444Vc.1332G>ASubstitution - coding silent
AKR1E2ENSG00000165568ENST00000298375p.G168Wc.502G>TSubstitution - Missense
SLIRPENSG00000119705ENST00000557342p.?c.156+1G>CUnknown
SPTBN5ENSG00000137877ENST00000320955p.H388Rc.1163A>GSubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.R459Rc.1377C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.G1882Vc.5645G>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S731Yc.2192C>ASubstitution - Missense
PRAMEF12ENSG00000116726ENST00000357726p.L88Lc.264G>TSubstitution - coding silent
SPAG17ENSG00000155761ENST00000336338p.S1103Sc.3309T>CSubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.408+2_409del2682Unknown
FZD4ENSG00000174804ENST00000531380p.V435Ic.1303G>ASubstitution - Missense
PRTGENSG00000166450ENST00000389286p.M116Ic.348G>ASubstitution - Missense
PYGO1ENSG00000171016ENST00000302000p.S6Sc.18T>CSubstitution - coding silent
GALK2ENSG00000156958ENST00000560031p.V342Mc.1024G>ASubstitution - Missense
GALK2ENSG00000156958ENST00000327171p.V331Mc.991G>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.R3652Hc.10955G>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.R812Hc.2435G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.R839Kc.2516G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.G1109fs*13c.3321delADeletion - Frameshift
CAPRIN2ENSG00000110888ENST00000251071p.R968Hc.2903G>ASubstitution - Missense
IFLTD1ENSG00000152936ENST00000458174p.P254Hc.761C>ASubstitution - Missense
L2HGDHENSG00000087299ENST00000267436p.T257Tc.771A>CSubstitution - coding silent
KLHDC2ENSG00000165516ENST00000298307p.?c.467+10C>TUnknown
MIS18BP1ENSG00000129534ENST00000310806p.P915Pc.2745T>ASubstitution - coding silent
CTAGE5ENSG00000150527ENST00000280083p.T583Tc.1749C>GSubstitution - coding silent
WDHD1ENSG00000198554ENST00000360586p.N999Sc.2996A>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.K283Ec.847A>GSubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.D858Ec.2574C>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377845p.D281Dc.843C>TSubstitution - coding silent
INADLENSG00000132849ENST00000371158p.I769Vc.2305A>GSubstitution - Missense
OR2T11ENSG00000183130ENST00000330803p.G22Rc.64G>ASubstitution - Missense
OR2T4ENSG00000196944ENST00000366475p.V166Fc.496G>TSubstitution - Missense
OR2L13ENSG00000196071ENST00000366478p.G305Gc.915G>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.R2223Sc.6669G>CSubstitution - Missense
AACSENSG00000081760ENST00000316519p.I441Ic.1323C>TSubstitution - coding silent
NCOR2ENSG00000196498ENST00000405201p.R1706Pc.5117G>CSubstitution - Missense
ATP6V0A2ENSG00000185344ENST00000330342p.D706Dc.2118T>CSubstitution - coding silent
MTNR1BENSG00000134640ENST00000257068p.W224Rc.670T>CSubstitution - Missense
LMBRD2ENSG00000164187ENST00000296603p.V572Lc.1714G>CSubstitution - Missense
GPR176ENSG00000166073ENST00000561100p.P439Lc.1316C>TSubstitution - Missense
DPH6ENSG00000134146ENST00000256538p.I188Vc.562A>GSubstitution - Missense
C15orf41ENSG00000186073ENST00000437989p.T114fs*8c.341delCDeletion - Frameshift
CORO2BENSG00000103647ENST00000566799p.P276Ac.826C>GSubstitution - Missense
IGDCC3ENSG00000174498ENST00000327987p.H38Rc.113A>GSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.N3100Tc.9299A>CSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.N3100Tc.9299A>CSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.?c.5303-10T>CUnknown
TRIP11ENSG00000100815ENST00000267622p.K804Kc.2412G>ASubstitution - coding silent
TSHRENSG00000165409ENST00000554435p.*275Lc.824G>TNonstop extension
SYNE2ENSG00000054654ENST00000358025p.A3084Ac.9252C>TSubstitution - coding silent
PCNXL4ENSG00000126773ENST00000406854p.L368_E369delLEc.1101_1106delTTTAGADeletion - In frame
CYP7A1ENSG00000167910ENST00000301645p.A218Sc.652G>TSubstitution - Missense
NM_006904p.R198Rc.594C>TSubstitution - coding silent
STAT4ENSG00000138378ENST00000358470p.?c.1852+8C>GUnknown
RALGAPA2ENSG00000188559ENST00000202677p.E172Vc.515A>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.E172Vc.515A>TSubstitution - Missense
NAA20ENSG00000173418ENST00000334982p.Y27Yc.81T>CSubstitution - coding silent
FLRT3ENSG00000125848ENST00000378053p.P432Rc.1295C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.R4078Kc.12233G>ASubstitution - Missense
ENST00000305326p.E453Kc.1357G>ASubstitution - Missense
MRPL10ENSG00000159111ENST00000351111p.R84Wc.250C>TSubstitution - Missense
USP10ENSG00000103194ENST00000219473p.V754Vc.2262C>TSubstitution - coding silent
S1PR4ENSG00000125910ENST00000246115p.A152Tc.454G>ASubstitution - Missense
S1PR4ENSG00000125910ENST00000246115p.A152Tc.454G>ASubstitution - Missense
ENST00000221482p.P389Tc.1165C>ASubstitution - Missense
ENST00000300671p.G2027Sc.6079G>ASubstitution - Missense
TRIM47ENSG00000132481ENST00000254816p.A277Tc.829G>ASubstitution - Missense
MPRIPENSG00000133030ENST00000341712p.R807Hc.2420G>ASubstitution - Missense
ZNF287ENSG00000141040ENST00000395824p.L67Lc.201G>ASubstitution - coding silent
NUTM2GENSG00000188152ENST00000372322p.G418Gc.1254G>ASubstitution - coding silent
NUTM2GENSG00000188152ENST00000354649p.G418Gc.1254G>ASubstitution - coding silent
KIAA1432ENSG00000107036ENST00000381532p.H373Hc.1119T>CSubstitution - coding silent
DOCK8ENSG00000107099ENST00000453981p.R2063Wc.6187C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.R1995Wc.5983C>TSubstitution - Missense
AKR1B15ENSG00000227471ENST00000423958p.I15Vc.43A>GSubstitution - Missense
CYP24A1ENSG00000019186ENST00000216862p.T388Mc.1163C>TSubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.R220Qc.659G>ASubstitution - Missense
PTGISENSG00000124212ENST00000244043p.A447Tc.1339G>ASubstitution - Missense
SIGLEC7ENSG00000168995ENST00000317643p.R198Hc.593G>ASubstitution - Missense
KLK3ENSG00000142515ENST00000360617p.G204Ac.611G>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.?c.5898-5T>CUnknown
MYO18AENSG00000196535ENST00000527372p.V1643Vc.4929G>TSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.V1643Gc.4928T>GSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.V1643Gc.4928T>GSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.G216Sc.646G>ASubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.E624Gc.1871A>GSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.A599Tc.1795G>ASubstitution - Missense
NUDT18ENSG00000173566ENST00000309188p.R68Wc.202C>TSubstitution - Missense
FRMD4BENSG00000114541ENST00000398540p.M779Lc.2335A>CSubstitution - Missense
FRMD4AENSG00000151474ENST00000264546p.M725Lc.2173A>CSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.L965Lc.2895C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.D267Yc.799G>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.D269Yc.805G>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.P8Tc.22C>ASubstitution - Missense
ENST00000397787p.A97Ac.291G>ASubstitution - coding silent
CRYAAENSG00000160202ENST00000291554p.I5Ic.15C>ASubstitution - coding silent
ENSG00000188474ENST00000339302p.I497Tc.1490T>CSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.R84Wc.250C>TSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.A346Ac.1038C>TSubstitution - coding silent
NM_021628.1p.A214Ac.642C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.N2580Nc.7740C>TSubstitution - coding silent
XM_043272.9p.K1534Kc.4602G>ASubstitution - coding silent
EFCAB5ENSG00000176927ENST00000394835p.M344Vc.1030A>GSubstitution - Missense
RFC1ENSG00000035928ENST00000381897p.S1146Sc.3438G>ASubstitution - coding silent
TLR1ENSG00000174125ENST00000308979p.K692Nc.2076G>TSubstitution - Missense
KCNE2ENSG00000159197ENST00000290310p.R27Cc.79C>TSubstitution - Missense
SONENSG00000159140ENST00000356577p.L394Fc.1182G>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.L394Fc.1182G>TSubstitution - Missense
ENST00000251648p.C310Yc.929G>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000359983p.C417Cc.1251C>TSubstitution - coding silent
ATP2A3ENSG00000074370ENST00000352011p.C417Cc.1251C>TSubstitution - coding silent
CES5AENSG00000159398ENST00000319165p.A128Ac.384G>CSubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.?c.1797+8C>TUnknown
PHKBENSG00000102893ENST00000323584p.?c.1797+8C>TUnknown
PHKBENSG00000102893ENST00000566044p.?c.1776+8C>TUnknown
SETD5ENSG00000168137ENST00000402198p.A1049Tc.3145G>ASubstitution - Missense
MSR1ENSG00000038945ENST00000381998p.P302Lc.905C>TSubstitution - Missense
NM_004260.1p.G1105Rc.3313G>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.L3499Pc.10496T>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.L3340Pc.10019T>CSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.D1387Dc.4161T>CSubstitution - coding silent
NM_147171.1p.D1399Dc.4197T>CSubstitution - coding silent
NHLRC1ENSG00000187566ENST00000340650p.R252Rc.756G>ASubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.H1485Dc.4453C>GSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.E344Vc.1031A>TSubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.S2047Lc.6140C>TSubstitution - Missense
ENST00000388944p.S757Lc.2270C>TSubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.D743Hc.2227G>CSubstitution - Missense
MYLK2ENSG00000101306ENST00000375994p.L147Lc.441G>TSubstitution - coding silent
PTPRHENSG00000080031ENST00000376350p.G369Wc.1105G>TSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.D2146Gc.6437A>GSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.L250Fc.750G>TSubstitution - Missense
ENST00000400156_v68p.R245Gc.733A>GSubstitution - Missense
ZNF705GENSG00000215372ENST00000400156p.R245Gc.733A>GSubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.V707Lc.2119G>CSubstitution - Missense
ENST00000354677p.V707Lc.2119G>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.R946Cc.2836C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.E1172*c.3514G>TSubstitution - Nonsense
COL20A1ENSG00000101203ENST00000358894p.E1140*c.3418G>TSubstitution - Nonsense
OGFRENSG00000060491ENST00000370461p.H7Qc.21C>GSubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.?c.70+3G>AUnknown
LILRA6ENSG00000244482ENST00000270464p.?c.70+3G>AUnknown
PPP2R1AENSG00000105568ENST00000322088p.H304Qc.912C>GSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.G609Vc.1826G>TSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.A418Tc.1252G>ASubstitution - Missense
MEFVENSG00000103313ENST00000219596p.A744Tc.2230G>ASubstitution - Missense
IFT57ENSG00000114446ENST00000264538p.S120Sc.360C>GSubstitution - coding silent
FANCD2ENSG00000144554ENST00000287647p.?c.1546-7T>AUnknown
TMEM131ENSG00000075568ENST00000186436p.M663Tc.1988T>CSubstitution - Missense
GPR113ENSG00000173567ENST00000333478p.F816Lc.2446T>CSubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.F1015Lc.3043T>CSubstitution - Missense
ITSN2ENSG00000198399ENST00000406921p.V813Ac.2438T>CSubstitution - Missense
GAL3ST2ENSG00000154252ENST00000192314p.R101Cc.301C>TSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.P713Lc.2138C>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.L439Lc.1315T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.D2197Gc.6590A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2208Sc.6622C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.W4840*c.14520G>ASubstitution - Nonsense
MUC4ENSG00000145113ENST00000346145p.W604*c.1812G>ASubstitution - Nonsense
ENST00000405167p.W4712*c.14136G>ASubstitution - Nonsense
PLB1ENSG00000163803ENST00000327757p.D760Nc.2278G>ASubstitution - Missense
DRG1ENSG00000185721ENST00000331457p.L221Lc.663A>GSubstitution - coding silent
AFF3ENSG00000144218ENST00000356421p.A304Vc.911C>TSubstitution - Missense
ENST00000316893p.G725Rc.2173G>CSubstitution - Missense
ENST00000316893p.R267Gc.799C>GSubstitution - Missense
ZBTB45ENSG00000119574ENST00000354590p.P142Lc.425C>TSubstitution - Missense
ZNF211ENSG00000121417ENST00000240731p.K333Ec.997A>GSubstitution - Missense
ZNF304ENSG00000131845ENST00000282286p.R486Rc.1458T>ASubstitution - coding silent
NM_203407.1p.N436Kc.1308C>GSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.R2752Qc.8255G>ASubstitution - Missense
PROSCENSG00000147471ENST00000328195p.?c.455-8T>CUnknown
TIGD2ENSG00000180346ENST00000317005p.C420Fc.1259G>TSubstitution - Missense
TIGD2ENSG00000180346ENST00000317005p.C420Wc.1260T>GSubstitution - Missense
SEC31AENSG00000138674ENST00000395310p.Y926Yc.2778C>TSubstitution - coding silent
GPR149ENSG00000174948ENST00000389740p.N423Kc.1269T>GSubstitution - Missense
RAP2BENSG00000181467ENST00000323534p.V7Vc.21G>CSubstitution - coding silent
PLSCR2ENSG00000163746ENST00000497985p.R256Ic.767G>TSubstitution - Missense
PLSCR2ENSG00000163746ENST00000336685p.R183Ic.548G>TSubstitution - Missense
PLSCR1ENSG00000188313ENST00000342435p.P84Ac.250C>GSubstitution - Missense
ENST00000273083p.P175Pc.525G>ASubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.A3447Vc.10340C>TSubstitution - Missense
RNF144AENSG00000151692ENST00000320892p.D124Dc.372C>TSubstitution - coding silent
WASH4PENSG00000234769ENST00000326592p.D122Dc.366C>TSubstitution - coding silent
HSF4ENSG00000102878ENST00000264009p.R116Hc.347G>ASubstitution - Missense
DCP2ENSG00000172795ENST00000389063p.?c.1047+6A>TUnknown
PPIP5K2ENSG00000145725ENST00000321521p.K425Rc.1274A>GSubstitution - Missense
DEFB131ENSG00000186146ENST00000334879p.V7fs*20c.18_19insTInsertion - Frameshift
SCN11AENSG00000168356ENST00000302328p.G890Dc.2669G>ASubstitution - Missense
SLC9A4ENSG00000180251ENST00000295269p.I138Ic.414C>TSubstitution - coding silent
NM_001453.1p.F167Lc.501C>GSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.T298Tc.894C>TSubstitution - coding silent
ARID1BENSG00000049618ENST00000346085p.E1402delEc.4202_4204delAGGDeletion - In frame
ARID1BENSG00000049618ENST00000275248p.E1384delEc.4148_4150delAGGDeletion - In frame
PLEKHG1ENSG00000120278ENST00000358517p.P379Pc.1137G>ASubstitution - coding silent
FLT4ENSG00000037280ENST00000393347p.T145Tc.435G>ASubstitution - coding silent
RUFY1ENSG00000176783ENST00000437570p.K220Ec.658A>GSubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.T296Ac.886A>GSubstitution - Missense
NM_053025p.E1790Ac.5369A>CSubstitution - Missense
NM_053025p.A50Dc.149C>ASubstitution - Missense
GMCL1ENSG00000087338ENST00000282570p.L491Fc.1473G>CSubstitution - Missense
RTN4ENSG00000115310ENST00000337526p.A903Ac.2709C>TSubstitution - coding silent
PSME4ENSG00000068878ENST00000404125p.R1201Lc.3602G>TSubstitution - Missense
NM_014614.1p.R1087Lc.3260G>TSubstitution - Missense
ESPNLENSG00000144488ENST00000343063p.I922delIc.2763_2765delCATDeletion - In frame
UGT1A5ENSG00000240224ENST00000373414p.V227Fc.679G>TSubstitution - Missense
DGKDENSG00000077044ENST00000264057p.L387Lc.1161C>GSubstitution - coding silent
GIGYF2ENSG00000204120ENST00000409451p.K1093Qc.3277A>CSubstitution - Missense
GIGYF2ENSG00000204120ENST00000373563p.K1072Qc.3214A>CSubstitution - Missense
SFT2D3ENSG00000173349ENST00000310981p.E30_K31insPLLAAEc.90_91ins18Insertion - In frame
MYO7BENSG00000169994ENST00000428314p.H488Rc.1463A>GSubstitution - Missense
ENST00000272666p.H488Rc.1463A>GSubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.G422Gc.1266A>CSubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.S18Fc.53C>TSubstitution - Missense
RNF216ENSG00000011275ENST00000389902p.N77Sc.230A>GSubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.E1455Dc.4365G>TSubstitution - Missense
PGCENSG00000096088ENST00000425343p.V61Mc.181G>ASubstitution - Missense
UNC5CLENSG00000124602ENST00000373164p.D119Gc.356A>GSubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.V219Vc.657G>ASubstitution - coding silent
CPNE5ENSG00000124772ENST00000244751p.?c.464+4C>TUnknown
GCNT4ENSG00000176928ENST00000322348p.A291Ec.872C>ASubstitution - Missense
PIK3R1ENSG00000145675ENST00000521381p.N527Yc.1579A>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000336483p.N257Yc.769A>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000320694p.N227Yc.679A>TSubstitution - Missense
TPPPENSG00000171368ENST00000360578p.E36Ec.108G>ASubstitution - coding silent
FAM198AENSG00000144649ENST00000430121p.K495Ec.1483A>GSubstitution - Missense
MPPED1ENSG00000186732ENST00000417669p.A116Tc.346G>ASubstitution - Missense
MPPED1ENSG00000186732ENST00000538182p.A149Tc.445G>ASubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.S1195Yc.3584C>ASubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.F245Ic.733T>ASubstitution - Missense
TMCC1ENSG00000172765ENST00000393238p.F648Lc.1944C>GSubstitution - Missense
KALRNENSG00000160145ENST00000240874p.?c.257+6G>TUnknown
KALRNENSG00000160145ENST00000240874p.T495Tc.1485G>ASubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.?c.2703+1G>AUnknown
SRRM2ENSG00000167978ENST00000301740p.S2550Lc.7649C>TSubstitution - Missense
BAXENSG00000087088ENST00000345358p.I187Mc.561C>GSubstitution - Missense
PLIN3ENSG00000105355ENST00000221957p.S175Lc.524C>TSubstitution - Missense
SLC8A2ENSG00000118160ENST00000236877p.E641delEc.1922_1924delAGGDeletion - In frame
NAPAENSG00000105402ENST00000263354p.N255Yc.763A>TSubstitution - Missense
C5AR1ENSG00000197405ENST00000355085p.T129Sc.386C>GSubstitution - Missense
ENST00000317082_v61p.V43Mc.127G>ASubstitution - Missense
LRG1ENSG00000171236ENST00000306390p.A68Vc.203C>TSubstitution - Missense
LPAR2ENSG00000064547ENST00000407877p.R231Hc.692G>ASubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.D699Nc.2095G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.L1562Vc.4684C>GSubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.R1016Gc.3046A>GSubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.A1169Ac.3507C>TSubstitution - coding silent
SNX24ENSG00000064652ENST00000513881p.A157Sc.469G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L2822Pc.8465T>CSubstitution - Missense
ARHGAP10ENSG00000071205ENST00000336498p.S490Pc.1468T>CSubstitution - Missense
GAB1ENSG00000109458ENST00000262995p.L270Sc.809T>CSubstitution - Missense
WDR52ENSG00000206530ENST00000393845p.E844Kc.2530G>ASubstitution - Missense
MZT2AENSG00000173272ENST00000309451p.R124Hc.371G>ASubstitution - Missense
ZNF689ENSG00000156853ENST00000287461p.Y205Nc.613T>ASubstitution - Missense
ITGALENSG00000005844ENST00000356798p.?c.328-5T>CUnknown
MYLPFENSG00000180209ENST00000322861p.E48Gc.143A>GSubstitution - Missense
PKMYT1ENSG00000127564ENST00000262300p.R486Wc.1456C>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000395547p.Y710Yc.2130C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.S937Nc.2810G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000336783p.S937Nc.2810G>ASubstitution - Missense
CAGE1ENSG00000164304ENST00000502583p.D288Yc.862G>TSubstitution - Missense
CAGE1ENSG00000164304ENST00000338150p.D288Yc.862G>TSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.A361Tc.1081G>ASubstitution - Missense
FAM135AENSG00000082269ENST00000370479p.A344Tc.1030G>ASubstitution - Missense
LY86ENSG00000112799ENST00000379953p.E39Dc.117A>TSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000442782p.E29Kc.85G>ASubstitution - Missense
TMPRSS6ENSG00000187045ENST00000346753p.E29Kc.85G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.L25Lc.75C>ASubstitution - coding silent
L3MBTL4ENSG00000154655ENST00000400105p.N268Kc.804T>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.E343Ac.1028A>CSubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.L702Lc.2106C>TSubstitution - coding silent
MCTP1ENSG00000175471ENST00000515393p.S487Sc.1461C>ASubstitution - coding silent
KIAA0825ENSG00000185261ENST00000312498p.A671Sc.2011G>TSubstitution - Missense
ANKRD34BENSG00000189127ENST00000338682p.N40Nc.120C>TSubstitution - coding silent
NM_002439.1p.P337Lc.1010C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.T2219Tc.6657G>CSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.T2219Tc.6657G>CSubstitution - coding silent
THADAENSG00000115970ENST00000405975p.A1061Tc.3181G>ASubstitution - Missense
CTNSENSG00000040531ENST00000381870p.I123Sc.368T>GSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.E4871_K4872delEKc.14612_14617delAAAAGGDeletion - In frame
UBE3DENSG00000118420ENST00000369747p.L128Lc.384C>TSubstitution - coding silent
IMPG1ENSG00000112706ENST00000369950p.?c.1825-9A>GUnknown
AHI1ENSG00000135541ENST00000327035p.Y531Cc.1592A>GSubstitution - Missense
ENST00000394831p.D424Gc.1271A>GSubstitution - Missense
FSD1LENSG00000106701ENST00000481272p.S498Nc.1493G>ASubstitution - Missense
FSD1LENSG00000106701ENST00000539376p.S351Nc.1052G>ASubstitution - Missense
INVSENSG00000119509ENST00000262457p.N648Sc.1943A>GSubstitution - Missense
C9orf172ENSG00000232434ENST00000436881p.P298Pc.894C>TSubstitution - coding silent
CCDC183ENSG00000213213ENST00000338005p.P79Tc.235C>ASubstitution - Missense
LCN9ENSG00000148386ENST00000277526p.F148Fc.444C>TSubstitution - coding silent
PPP1R26ENSG00000196422ENST00000356818p.V888Mc.2662G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.Y508Fc.1523A>TSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371911p.R312Gc.934A>GSubstitution - Missense
PPARGC1BENSG00000155846ENST00000309241p.R980Qc.2939G>ASubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.?c.81+8C>TUnknown
DIAPH1ENSG00000131504ENST00000398557p.R246_D249>Hc.736_745>CComplex - deletion inframe
PCDHGA7ENSG00000253537ENST00000518325p.D595Nc.1783G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R248Sc.744G>TSubstitution - Missense
TTC14ENSG00000163728ENST00000296015p.E763Ac.2288A>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.K1426Ec.4276A>GSubstitution - Missense
ZNF568ENSG00000198453ENST00000333987p.G197Gc.591C>ASubstitution - coding silent
RNF43ENSG00000108375ENST00000407977p.?c.583-5C>GUnknown
AKAP1ENSG00000121057ENST00000337714p.V63Fc.187G>TSubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.R845Wc.2533C>TSubstitution - Missense
ANKHD1ENSG00000131503ENST00000297183p.N813fs*5c.2437delADeletion - Frameshift
ANKHD1ENSG00000131503ENST00000360839p.N813fs*5c.2437delADeletion - Frameshift
TMEM173ENSG00000184584ENST00000330794p.D210Yc.628G>TSubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.R724Hc.2171G>ASubstitution - Missense
FAM13BENSG00000031003ENST00000033079p.K736Kc.2208A>GSubstitution - coding silent
FAM13BENSG00000031003ENST00000425075p.K612Kc.1836A>GSubstitution - coding silent
BLVRAENSG00000106605ENST00000265523p.V141Mc.421G>ASubstitution - Missense
PLD3ENSG00000105223ENST00000409587p.P96Lc.287C>TSubstitution - Missense
NAA35ENSG00000135040ENST00000361671p.V343Lc.1027G>TSubstitution - Missense
ACTR3CENSG00000106526ENST00000252071p.G36Vc.107G>TSubstitution - Missense
ZNF786ENSG00000197362ENST00000491431p.A418Vc.1253C>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.V786Lc.2356G>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.N1740Kc.5220T>GSubstitution - Missense
SLC26A4ENSG00000091137ENST00000265715p.D158Dc.474C>TSubstitution - coding silent
PUS7ENSG00000091127ENST00000356362p.T4Ac.10A>GSubstitution - Missense
TRIM31ENSG00000204616ENST00000376734p.L231Lc.693C>TSubstitution - coding silent
ZSCAN12ENSG00000158691ENST00000361028p.V44Fc.130G>TSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.A975Ac.2925A>GSubstitution - coding silent
C5orf54ENSG00000221886ENST00000408953p.M182Lc.544A>CSubstitution - Missense
MRPL22ENSG00000082515ENST00000523037p.N16Kc.48C>GSubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.V232Vc.696T>GSubstitution - coding silent
PCDHB16ENSG00000196963ENST00000361016p.G679Sc.2035G>ASubstitution - Missense
TMIGD2ENSG00000167664ENST00000301272p.L76Lc.228C>TSubstitution - coding silent
GRIK5ENSG00000105737ENST00000262895p.Q50Hc.150G>TSubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.Q50Hc.150G>TSubstitution - Missense
NR2F6ENSG00000160113ENST00000291442p.F372Fc.1116C>TSubstitution - coding silent
CYP4F2ENSG00000186115ENST00000221700p.A27Vc.80C>TSubstitution - Missense
CYP4F11ENSG00000171903ENST00000248041p.E517Kc.1549G>ASubstitution - Missense
EPHX3ENSG00000105131ENST00000221730p.?c.617-5C>GUnknown
ENST00000309900p.?c.1068-7T>CUnknown
ENST00000316490p.K2632fs*81c.7892_7893insGInsertion - Frameshift
ENST00000316490p.?c.8250-7T>CUnknown
WDR90ENSG00000161996ENST00000293879p.?c.1054-7G>AUnknown
CIRH1AENSG00000141076ENST00000314423p.I534Vc.1600A>GSubstitution - Missense
ENST00000312046_v70p.G776Gc.2328A>TSubstitution - coding silent
OXR1ENSG00000164830ENST00000312046p.G695Gc.2085A>TSubstitution - coding silent
OXR1ENSG00000164830ENST00000297447p.G180Gc.540A>TSubstitution - coding silent
LRP12ENSG00000147650ENST00000276654p.S100Sc.300C>TSubstitution - coding silent
PI4KAENSG00000241973ENST00000572273p.N1929Sc.5786A>GSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.R104Wc.310C>TSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.R104Wc.310C>TSubstitution - Missense
TMEM184AENSG00000164855ENST00000297477p.V192Vc.576G>ASubstitution - coding silent
KIAA0232ENSG00000170871ENST00000307659p.H1018Rc.3053A>GSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.S382Tc.1144T>ASubstitution - Missense
ARFGEF2ENSG00000124198ENST00000371917p.D914Dc.2742C>TSubstitution - coding silent
WFDC10AENSG00000180305ENST00000372643p.T69Ac.205A>GSubstitution - Missense
PHLDB3ENSG00000176531ENST00000292140p.S337Sc.1011T>ASubstitution - coding silent
PSG6ENSG00000170848ENST00000292125p.G17Ac.50G>CSubstitution - Missense
PSG6ENSG00000170848ENST00000187910p.G17Ac.50G>CSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.M267Lc.799A>CSubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.E97Kc.289G>ASubstitution - Missense
ENSG00000215428ENST00000277491p.S86Sc.258C>TSubstitution - coding silent
FNBP1ENSG00000187239ENST00000446176p.L486Ic.1456C>ASubstitution - Missense
FNBP1ENSG00000187239ENST00000443566p.L114Ic.340C>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.L216Lc.648G>TSubstitution - coding silent
TGENSG00000042832ENST00000220616p.I821Tc.2462T>CSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.I459Tc.1376T>CSubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.F849Fc.2547C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.L2029Fc.6085C>TSubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.N321Ic.962A>TSubstitution - Missense
GSTA5ENSG00000182793ENST00000370989p.P56Qc.167C>ASubstitution - Missense
RING1ENSG00000204227ENST00000374656p.R158Qc.473G>ASubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.R1660Hc.4979G>ASubstitution - Missense
PSMB9ENSG00000240065ENST00000453265p.I44Tc.131T>CSubstitution - Missense
PSMB9ENSG00000240065ENST00000374859p.I88Tc.263T>CSubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.R1410Hc.4229G>ASubstitution - Missense
EGFL8ENSG00000241404ENST00000395512p.H172fs*3c.510delCDeletion - Frameshift
TNXBENSG00000168477ENST00000375247p.F4124Fc.12372T>CSubstitution - coding silent
SKIV2LENSG00000204351ENST00000375394p.A205Tc.613G>ASubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.A205Tc.613G>ASubstitution - Missense
EXOC3ENSG00000180104ENST00000315013p.E625Vc.1874A>TSubstitution - Missense
C5orf55ENSG00000221990ENST00000408966p.M6fs*21c.12_13insTInsertion - Frameshift
AGAENSG00000038002ENST00000264595p.N143Sc.428A>GSubstitution - Missense
TRIM61ENSG00000183439ENST00000329314p.P17Ac.49C>GSubstitution - Missense
TP63ENSG00000073282ENST00000418709p.S184Lc.551C>TSubstitution - Missense
OR51A7ENSG00000176895ENST00000359350p.A264Ac.792C>ASubstitution - coding silent
BCL9LENSG00000186174ENST00000334801p.S705Gc.2113A>GSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000526090p.G48Gc.144G>TSubstitution - coding silent
AKR1C1ENSG00000187134ENST00000380859p.N169Sc.506A>GSubstitution - Missense
ENST00000454161p.V453Vc.1359G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
L2HGDHENSG00000087299ENST00000261699p.T257Tc.771A>CSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000371069p.D915Ec.2745C>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377855p.D311Dc.933C>TSubstitution - coding silent
MROH7ENSG00000184313ENST00000339553p.R763Cc.2287C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.P2871Pc.8613C>GSubstitution - coding silent
ENST00000318130_v70p.Q643*c.1927C>TSubstitution - Nonsense
ENST00000367790_v70p.I134Tc.401T>CSubstitution - Missense
C1orf85ENSG00000198715ENST00000368264p.T52Tc.156G>ASubstitution - coding silent
ARHGAP35ENSG00000160007ENST00000404338p.V43Mc.127G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.G2018Sc.6052G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.T4411Tc.13233T>CSubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.R267Gc.799C>GSubstitution - Missense
COASYENSG00000068120ENST00000590958p.R322Hc.965G>ASubstitution - Missense
GRB7ENSG00000141738ENST00000445327p.A192Sc.574G>TSubstitution - Missense
MPRIPENSG00000133030ENST00000395811p.R807Hc.2420G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.Y710Yc.2130C>TSubstitution - coding silent
IGFALSENSG00000099769ENST00000415638p.A393Ac.1179G>ASubstitution - coding silent
TPSB2ENSG00000197253ENST00000430512p.H268Qc.804C>ASubstitution - Missense
TP63ENSG00000073282ENST00000354600p.S90Lc.269C>TSubstitution - Missense
THADAENSG00000115970ENST00000330266p.A771Tc.2311G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000410072p.S393Yc.1178C>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.I525Tc.1574T>CSubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.G507Gc.1521A>CSubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000381792p.G792Rc.2374G>ASubstitution - Missense
TMPRSS6ENSG00000187045ENST00000381792p.E20Kc.58G>ASubstitution - Missense
SONENSG00000159140ENST00000290239p.L394Fc.1182G>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.E1147*c.3439G>TSubstitution - Nonsense
COL20A1ENSG00000101203ENST00000422202p.R953Cc.2857C>TSubstitution - Missense
SNX21ENSG00000124104ENST00000342644p.P27Lc.80C>TSubstitution - Missense
ENST00000319850p.A217Ac.651C>ASubstitution - coding silent
RUFY1ENSG00000176783ENST00000377001p.K328Ec.982A>GSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.A975Ac.2925A>GSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000394320p.R980Qc.2939G>ASubstitution - Missense
PPIP5K2ENSG00000145725ENST00000358359p.K425Rc.1274A>GSubstitution - Missense
ENST00000378024_v70p.S332Sc.996T>CSubstitution - coding silent
CYP4A22ENSG00000162365ENST00000371890p.T222fs*61c.665delCDeletion - Frameshift
SIKE1ENSG00000052723ENST00000369528p.?c.420+2_421del2682Unknown
ENST00000381532_v70p.H373Hc.1119T>CSubstitution - coding silent
INVSENSG00000119509ENST00000541287p.N552Sc.1655A>GSubstitution - Missense
PLECENSG00000178209ENST00000356346p.L3348Pc.10043T>CSubstitution - Missense
ENST00000328843_v70p.A3782Sc.11344G>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000494651p.N623Kc.1869T>GSubstitution - Missense
SRPK2ENSG00000135250ENST00000393651p.Q290Ec.868C>GSubstitution - Missense
LATS1ENSG00000131023ENST00000392273p.V650Vc.1950A>CSubstitution - coding silent
MCTP1ENSG00000175471ENST00000312216p.S266Sc.798C>ASubstitution - coding silent
ACOT7ENSG00000097021ENST00000361521p.D301Dc.903C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367135p.P430Lc.1289C>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.A907Ac.2721G>ASubstitution - coding silent
SERINC4ENSG00000184716ENST00000319327p.M258fs*45c.772_773insCTInsertion - Frameshift
ENST00000341258p.V561Ac.1682T>CSubstitution - Missense
CABP2ENSG00000167791ENST00000294288p.A183Tc.547G>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.I1135Vc.3403A>GSubstitution - Missense
TARBP2ENSG00000139546ENST00000266987p.T63Ic.188C>TSubstitution - Missense
ATP7BENSG00000123191ENST00000242839p.S428Cc.1283C>GSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.V950Ic.2848G>ASubstitution - Missense
PGCENSG00000096088ENST00000373025p.V61Mc.181G>ASubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.T145Tc.435G>ASubstitution - coding silent
GLB1ENSG00000170266ENST00000445488p.S694Sc.2082A>GSubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.E1579Ac.4736A>CSubstitution - Missense
ZNF211ENSG00000121417ENST00000544273p.K332Ec.994A>GSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.G1485Ac.4454G>CSubstitution - Missense
CARFENSG00000138380ENST00000320443p.T334Kc.1001C>ASubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.S344Nc.1031G>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.D358Hc.1072G>CSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.L1254Lc.3762G>TSubstitution - coding silent
SLC6A14ENSG00000087916ENST00000371900p.?c.347-6T>AUnknown
ATXN2LENSG00000168488ENST00000340394p.S937Nc.2810G>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000341749p.T571Tc.1713C>GSubstitution - coding silent
OR1Q1ENSG00000165202ENST00000297913p.C169Fc.506G>TSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.S237Rc.711C>GSubstitution - Missense
ENST00000316490_v65p.?c.8394-7T>CUnknown
ZBBXENSG00000169064ENST00000392766p.Q180*c.538C>TSubstitution - Nonsense
SPINK5ENSG00000133710ENST00000256084p.?c.81+8C>TUnknown
ZNF445ENSG00000185219ENST00000396077p.T633Tc.1899C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.?c.1617+10C>AUnknown
TLN1ENSG00000137076ENST00000314888p.L764Fc.2292G>TSubstitution - Missense
PECRENSG00000115425ENST00000265322p.F98Cc.293T>GSubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.K78Nc.234G>TSubstitution - Missense
IL6RENSG00000160712ENST00000368485p.L251Lc.751C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.P430Lc.1289C>TSubstitution - Missense
ENST00000422321p.P182Pc.546T>ASubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.522+1_523-1del1973Unknown
SCMH1ENSG00000010803ENST00000372597p.P22Pc.66C>TSubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.E2767Dc.8301G>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.G88Dc.263G>ASubstitution - Missense
NM_175736.3p.?c.1797+8G>CUnknown
ZNF296ENSG00000170684ENST00000303809p.V206Mc.616G>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.G2107Vc.6320G>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000310351p.T136Ac.406A>GSubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.L1797Fc.5391G>TSubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.V650Vc.1950A>CSubstitution - coding silent
ELF2ENSG00000109381ENST00000394235p.L299*c.896T>GSubstitution - Nonsense
KIAA1109ENSG00000138688ENST00000264501p.S4253Yc.12758C>ASubstitution - Missense
WASH4PENSG00000234769ENST00000538848p.D95Dc.285C>TSubstitution - coding silent
AGPAT6ENSG00000158669ENST00000396987p.?c.701+9G>AUnknown
ADRM1ENSG00000130706ENST00000253003p.Q263Ec.787C>GSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.V813Ac.2438T>CSubstitution - Missense
GRM2ENSG00000164082ENST00000395052p.T629Tc.1887G>ASubstitution - coding silent
EIF2AK3ENSG00000172071ENST00000303236p.R267Wc.799C>TSubstitution - Missense
PROM2ENSG00000155066ENST00000317668p.S542Nc.1625G>ASubstitution - Missense
ZNF678ENSG00000181450ENST00000343776p.R341Kc.1022G>ASubstitution - Missense
ENST00000395333p.I44Tc.131T>CSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.?c.1092+3A>CUnknown
AKAP8ENSG00000105127ENST00000269701p.G263Rc.787G>CSubstitution - Missense
AHI1ENSG00000135541ENST00000367800p.Y531Cc.1592A>GSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.P2645Lc.7934C>TSubstitution - Missense
NM_002439.1p.P337Pc.1011C>TSubstitution - coding silent
NCAPHENSG00000121152ENST00000240423p.N333Sc.998A>GSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.?c.5900-10T>CUnknown
CACNA1SENSG00000081248ENST00000362061p.I99Ic.297T>ASubstitution - coding silent
OR2L13ENSG00000196071ENST00000358120p.G305Gc.915G>TSubstitution - coding silent
NR5A2ENSG00000116833ENST00000367362p.N523Hc.1567A>CSubstitution - Missense
IDI2ENSG00000148377ENST00000277517p.T61Nc.182C>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.R1202Wc.3604C>TSubstitution - Missense
HRGENSG00000113905ENST00000232003p.P310Lc.929C>TSubstitution - Missense
GABRA1ENSG00000022355ENST00000393943p.K105Qc.313A>CSubstitution - Missense
ENST00000316490p.P1058Pc.3174G>ASubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000346753p.G779Rc.2335G>ASubstitution - Missense
FAM136AENSG00000035141ENST00000037869p.Q10*c.28C>TSubstitution - Nonsense
ENST00000405167p.D2197Gc.6590A>GSubstitution - Missense
CLIP4ENSG00000115295ENST00000320081p.P234Lc.701C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.R30Lc.89G>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.L3389Pc.10166T>CSubstitution - Missense
INHAENSG00000123999ENST00000243786p.P192Pc.576C>TSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000341502p.T583Tc.1749C>GSubstitution - coding silent
SLIT3ENSG00000184347ENST00000404867p.E989Vc.2966A>TSubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.D769Hc.2305G>CSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.S937Nc.2810G>ASubstitution - Missense
NOSTRINENSG00000163072ENST00000444448p.A502Sc.1504G>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.?c.5898-5T>CUnknown
RUNX1T1ENSG00000079102ENST00000360348p.D310Hc.928G>CSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.L1138Lc.3414G>TSubstitution - coding silent
SLC43A2ENSG00000167703ENST00000301335p.?c.161-3C>GUnknown
PCNXL4ENSG00000126773ENST00000404681p.L134_E135delLEc.399_404delTTTAGADeletion - In frame
GPR65ENSG00000140030ENST00000267549p.G297Rc.889G>ASubstitution - Missense
GATMENSG00000171766ENST00000396659p.R206Hc.617G>ASubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.A246Vc.737C>TSubstitution - Missense
SF3B2ENSG00000087365ENST00000322535p.P21_G22insPc.56_57insGCCInsertion - In frame
SCAF11ENSG00000139218ENST00000369367p.T327Ac.979A>GSubstitution - Missense
ANKRD13DENSG00000172932ENST00000308440p.A431Gc.1292C>GSubstitution - Missense
SOS1ENSG00000115904ENST00000426016p.Q977Rc.2930A>GSubstitution - Missense
TBC1D31ENSG00000156787ENST00000287380p.?c.1210-9T>CUnknown
GCM2ENSG00000124827ENST00000379491p.P377Lc.1130C>TSubstitution - Missense
MAKENSG00000111837ENST00000313243p.T399Tc.1197T>GSubstitution - coding silent
CPT1BENSG00000205560ENST00000395650p.Y202Yc.606C>TSubstitution - coding silent
PGAM4ENSG00000226784ENST00000458128p.S118Sc.354C>TSubstitution - coding silent
CASRENSG00000036828ENST00000296154p.G273Vc.818G>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.A3782Sc.11344G>TSubstitution - Missense
USP53ENSG00000145390ENST00000274030p.S171Sc.513G>ASubstitution - coding silent
TRIM7ENSG00000146054ENST00000274773p.E416Ec.1248G>ASubstitution - coding silent
SEC31AENSG00000138674ENST00000432794p.Y926Yc.2778C>TSubstitution - coding silent
LRCH3ENSG00000186001ENST00000425562p.L439Lc.1315T>CSubstitution - coding silent
AFF1ENSG00000172493ENST00000395146p.L430Lc.1290C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V3123Vc.9369C>TSubstitution - coding silent
ENST00000570743p.G609Vc.1826G>TSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.P302Lc.905C>TSubstitution - Missense
CYYR1ENSG00000166265ENST00000435845p.S83Fc.248C>TSubstitution - Missense
ENST00000411702p.N4556Nc.13668C>TSubstitution - coding silent
MRC2ENSG00000011028ENST00000303375p.H842Qc.2526C>ASubstitution - Missense
FOLR3ENSG00000110203ENST00000456237p.D257Dc.771C>TSubstitution - coding silent
C10orf11ENSG00000148655ENST00000372499p.E130Ec.390G>ASubstitution - coding silent
MYO3BENSG00000071909ENST00000408978p.Q1122Ec.3364C>GSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.V1563Gc.4688T>GSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.P255Sc.763C>TSubstitution - Missense
NM_058004.1p.N1929Sc.5786A>GSubstitution - Missense
BLVRBENSG00000090013ENST00000263368p.T64Nc.191C>ASubstitution - Missense
LRP12ENSG00000147650ENST00000276654p.S548Sc.1644G>ASubstitution - coding silent
ENST00000316490_v65p.P1106Pc.3318G>ASubstitution - coding silent
CES5AENSG00000159398ENST00000521992p.A157Ac.471G>CSubstitution - coding silent
EIF2AK3ENSG00000172071ENST00000303236p.R267Wc.799C>TSubstitution - Missense
ENST00000290422p.D467Nc.1399G>ASubstitution - Missense
ARHGEF39ENSG00000137135ENST00000378387p.S313Fc.938C>TSubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.Q257*c.769C>TSubstitution - Nonsense
NM_006293p.K70Nc.210G>TSubstitution - Missense
IFLTD1ENSG00000152936ENST00000282881p.P233Hc.698C>ASubstitution - Missense
ST8SIA6ENSG00000148488ENST00000377602p.H383Qc.1149C>ASubstitution - Missense
TMPRSS13ENSG00000137747ENST00000524993p.G48Gc.144G>TSubstitution - coding silent
SCMH1ENSG00000010803ENST00000402904p.P69Pc.207C>TSubstitution - coding silent
CDK9ENSG00000136807ENST00000373264p.G216Rc.646G>CSubstitution - Missense
CCDC152ENSG00000198865ENST00000361970p.S4Cc.10A>TSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.V963Mc.2887G>ASubstitution - Missense
SNX21ENSG00000124104ENST00000491381p.P27Lc.80C>TSubstitution - Missense
PDE6BENSG00000133256ENST00000255622p.T604Ic.1811C>TSubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.R58Mc.173G>TSubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.P293Lc.878C>TSubstitution - Missense
OXR1ENSG00000164830ENST00000442977p.G811Gc.2433A>TSubstitution - coding silent
RHOT1ENSG00000126858ENST00000358365p.A184Sc.550G>TSubstitution - Missense
SH3TC2ENSG00000169247ENST00000515425p.?c.151+4T>CUnknown
FKBP15ENSG00000119321ENST00000446284p.P439Pc.1317G>ASubstitution - coding silent
FAM198AENSG00000144649ENST00000273146p.K421Ec.1261A>GSubstitution - Missense
MGLLENSG00000074416ENST00000398104p.Y194Fc.581A>TSubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.A692Vc.2075C>TSubstitution - Missense
RAET1LENSG00000155918ENST00000367341p.G200Gc.600C>TSubstitution - coding silent
CTNND2ENSG00000169862ENST00000304623p.?c.3417+1_3417+2insTAAAUnknown
A1CFENSG00000148584ENST00000282641p.P549Sc.1645C>TSubstitution - Missense
SU_CRIKp.A950Ac.2850G>ASubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.S1597Sc.4791T>CSubstitution - coding silent
MROH9ENSG00000117501ENST00000367758p.S176Sc.528T>CSubstitution - coding silent
ARHGEF16ENSG00000130762ENST00000378378p.S418Fc.1253C>TSubstitution - Missense
SELEENSG00000007908ENST00000333360p.T221Nc.662C>ASubstitution - Missense
SU_NEK5p.H259Yc.775C>TSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.G334Gc.1002C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.Y617Fc.1850A>TSubstitution - Missense
FAM193AENSG00000125386ENST00000324666p.Q1047fs*63c.3141_3150del10Deletion - Frameshift
ATF7IPENSG00000171681ENST00000543189p.N933Hc.2797A>CSubstitution - Missense
GSDMCENSG00000147697ENST00000276708p.K209Rc.626A>GSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.V101Vc.303C>ASubstitution - coding silent
FAM194AENSG00000163645ENST00000295910p.S439Sc.1317A>CSubstitution - coding silent
GLB1ENSG00000170266ENST00000307363p.S646Sc.1938A>GSubstitution - coding silent
ULK4ENSG00000168038ENST00000301831p.V501Vc.1503G>CSubstitution - coding silent
CXorf67ENSG00000187690ENST00000342995p.N436Kc.1308C>GSubstitution - Missense
CAPN14ENSG00000214711ENST00000403897p.T524Ac.1570A>GSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.S393Yc.1178C>ASubstitution - Missense
CCDC40ENSG00000141519ENST00000374877p.T574Nc.1721C>ASubstitution - Missense
FLT3LGENSG00000090554ENST00000204637p.A181Dc.542C>ASubstitution - Missense
C15orf57ENSG00000128891ENST00000558750p.E175Ac.524A>CSubstitution - Missense
MIA2ENSG00000150526ENST00000280082p.G228Ec.683G>ASubstitution - Missense
NM_006312.2p.R1713Pc.5138G>CSubstitution - Missense
ABCC6ENSG00000091262ENST00000205557p.H58Rc.173A>GSubstitution - Missense
ITPRIPL2ENSG00000205730ENST00000381440p.R365Qc.1094G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.L1533Sc.4598T>CSubstitution - Missense
ENSG00000205148ENST00000378936p.D119fs*5c.353_354insGInsertion - Frameshift
SIKE1ENSG00000052723ENST00000369528p.?c.534+1_535-1del1973Unknown
VWA2ENSG00000165816ENST00000392982p.R427Wc.1279C>TSubstitution - Missense
SRPK2ENSG00000135250ENST00000357311p.Q279Ec.835C>GSubstitution - Missense
SLC28A3ENSG00000197506ENST00000376238p.F563Lc.1687T>CSubstitution - Missense
SU_SgK071p.Q493*c.1477C>TSubstitution - Nonsense
COASYENSG00000068120ENST00000393818p.R293Hc.878G>ASubstitution - Missense
ASIC5ENSG00000256394ENST00000537611p.S371Sc.1113T>CSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000337530p.G524Gc.1572C>TSubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.P1285Lc.3854C>TSubstitution - Missense
ENST00000349653p.D722Nc.2164G>ASubstitution - Missense
NM_001184p.S924Nc.2771G>ASubstitution - Missense
GLTSCR2ENSG00000105373ENST00000246802p.F88Fc.264C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000336783p.Y710Yc.2130C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.R2612Wc.7834C>TSubstitution - Missense
DCAF8L1ENSG00000226372ENST00000441525p.Y386Nc.1156T>ASubstitution - Missense
TRIM7ENSG00000146054ENST00000393319p.E234Ec.702G>ASubstitution - coding silent
C15orf57ENSG00000128891ENST00000358005p.E166Ac.497A>CSubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.M1242Tc.3725T>CSubstitution - Missense
EFCAB4BENSG00000130038ENST00000252322p.Q207*c.619C>TSubstitution - Nonsense
ZBTB37ENSG00000185278ENST00000427304p.D277Dc.831T>CSubstitution - coding silent
NM_015401.1p.L943Lc.2829G>ASubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.Q45Hc.135G>TSubstitution - Missense
NADSYN1ENSG00000172890ENST00000319023p.Y525*c.1575C>GSubstitution - Nonsense
ALDH3B2ENSG00000132746ENST00000530069p.V54Mc.160G>ASubstitution - Missense
OR4C3ENSG00000176547ENST00000319856p.A261Ac.783C>TSubstitution - coding silent
MTERFD3ENSG00000120832ENST00000392830p.L247Fc.739C>TSubstitution - Missense
S1PR3ENSG00000213694ENST00000375846p.D147Nc.439G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.R946Cc.2836C>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.?c.1546-7T>AUnknown
GRB7ENSG00000141738ENST00000309156p.A169Sc.505G>TSubstitution - Missense
ZNF491ENSG00000177599ENST00000323169p.C273Gc.817T>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.D114Yc.340G>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.L945Lc.2835C>TSubstitution - coding silent
DOT1LENSG00000104885ENST00000398665p.P389Tc.1165C>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.P388Rc.1163C>GSubstitution - Missense
TTLL6ENSG00000170703ENST00000433608p.E468Kc.1402G>ASubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.M364Vc.1090A>GSubstitution - Missense
ACOT7ENSG00000097021ENST00000377842p.D260Dc.780C>TSubstitution - coding silent
GBP4ENSG00000162654ENST00000355754p.Q51Qc.153G>ASubstitution - coding silent
AXLENSG00000167601ENST00000301178p.L78Fc.232C>TSubstitution - Missense
CTNSENSG00000040531ENST00000046640p.I123Sc.368T>GSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.P2684Lc.8051C>TSubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.G698Rc.2092G>ASubstitution - Missense
CYTH4ENSG00000100055ENST00000248901p.T275Tc.825G>ASubstitution - coding silent
CNN2ENSG00000064666ENST00000263097p.T278Ic.833C>TSubstitution - Missense
RTN4ENSG00000115310ENST00000357376p.A697Ac.2091C>TSubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.T495Tc.1485G>ASubstitution - coding silent
CCDC14ENSG00000175455ENST00000433542p.T255Ac.763A>GSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.R1140Qc.3419G>ASubstitution - Missense
ENST00000367790p.I134Tc.401T>CSubstitution - Missense
SSH3ENSG00000172830ENST00000308127p.T247Mc.740C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.Q732*c.2194C>TSubstitution - Nonsense
FOLR2ENSG00000165457ENST00000298223p.L253Ic.757C>ASubstitution - Missense
FCRL4ENSG00000163518ENST00000271532p.S509Ic.1526G>TSubstitution - Missense
PTK2BENSG00000120899ENST00000544172p.T842Mc.2525C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.L3362Pc.10085T>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.G725Rc.2173G>CSubstitution - Missense
EPT1ENSG00000138018ENST00000260585p.I193Vc.577A>GSubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.?c.277+1_278-1del825Unknown
HTRA4ENSG00000169495ENST00000302495p.D311Ec.933T>GSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.G1526Ac.4577G>CSubstitution - Missense
LRCH3ENSG00000186001ENST00000438796p.L439Lc.1315T>CSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000354587p.E664Kc.1990G>ASubstitution - Missense
METTL8ENSG00000123600ENST00000453846p.?c.144-2A>GUnknown
KRIT1ENSG00000001631ENST00000394507p.T641Tc.1923A>GSubstitution - coding silent
GPAT2ENSG00000186281ENST00000359548p.T731Tc.2193C>TSubstitution - coding silent
MRPS5ENSG00000144029ENST00000272418p.L349Lc.1047C>GSubstitution - coding silent
LAMA3ENSG00000053747ENST00000269217p.T226Tc.678C>ASubstitution - coding silent
PITPNM3ENSG00000091622ENST00000262483p.N639Nc.1917T>CSubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000265814p.D347Hc.1039G>CSubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.T766Tc.2298C>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.P4208Pc.12624T>ASubstitution - coding silent
DDHD1ENSG00000100523ENST00000323669p.K283Ec.847A>GSubstitution - Missense
ENST00000433634p.V278Ic.832G>ASubstitution - Missense
EDEM3ENSG00000116406ENST00000318130p.Q600*c.1798C>TSubstitution - Nonsense
ABCA8ENSG00000141338ENST00000430352p.E1619Ac.4856A>CSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.?c.618+8G>TUnknown
PRAMEENSG00000185686ENST00000398741p.P247Sc.739C>TSubstitution - Missense
TBC1D3GENSG00000161583ENST00000341264p.P509fs*18c.1525_1526ins43Insertion - Frameshift
MTFR2ENSG00000146410ENST00000451457p.E48Kc.142G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R248Sc.744G>TSubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.P346Pc.1038C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.?c.1617+10C>AUnknown
LATS1ENSG00000131023ENST00000543571p.V650Vc.1950A>CSubstitution - coding silent
TAB2ENSG00000055208ENST00000538427p.T104Mc.311C>TSubstitution - Missense
KLK3ENSG00000142515ENST00000326003p.G204Ac.611G>CSubstitution - Missense
IL17DENSG00000172458ENST00000304920p.D128Dc.384C>TSubstitution - coding silent
IRS2ENSG00000185950ENST00000375856p.T579Tc.1737C>ASubstitution - coding silent
CYP4A22ENSG00000162365ENST00000371891p.L274fs*107c.820delCDeletion - Frameshift
CCNL2ENSG00000221978ENST00000400809p.A179Ac.537G>ASubstitution - coding silent
CCNL2ENSG00000221978ENST00000408918p.A179Ac.537G>ASubstitution - coding silent
NXPE2ENSG00000204361ENST00000389586p.T105Nc.314C>ASubstitution - Missense
ANPEPENSG00000166825ENST00000300060p.T457Tc.1371A>CSubstitution - coding silent
PTCH2ENSG00000117425ENST00000372192p.?c.935+4G>TUnknown
GOLGA8MENSG00000188626ENST00000563027p.A563Ac.1689T>CSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.S332Sc.996T>CSubstitution - coding silent
R3HCC1LENSG00000166024ENST00000298999p.M1Lc.1A>CSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.C1477Cc.4431C>TSubstitution - coding silent
SASS6ENSG00000156876ENST00000287482p.?c.1674+3A>GUnknown
PRKD1ENSG00000184304ENST00000331968p.E493Kc.1477G>ASubstitution - Missense
EPXENSG00000121053ENST00000225371p.N338Kc.1014C>GSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.?c.446+10T>CUnknown
ENST00000317082p.V43Mc.127G>ASubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.P327Pc.981G>ASubstitution - coding silent
RNF40ENSG00000103549ENST00000324685p.P584Ac.1750C>GSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.?c.257+6G>TUnknown
PPIL4ENSG00000131013ENST00000253329p.S318Lc.953C>TSubstitution - Missense
ENST00000405167p.P2208Sc.6622C>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.S572Sc.1716G>ASubstitution - coding silent
PPP1R16AENSG00000160972ENST00000292539p.Q122Qc.366G>ASubstitution - coding silent
ARAP2ENSG00000047365ENST00000303965p.R287*c.859C>TSubstitution - Nonsense
COL6A2ENSG00000142173ENST00000300527p.V922Lc.2764G>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.T1835Tc.5505C>ASubstitution - coding silent
PRDM4ENSG00000110851ENST00000228437p.P389Pc.1167C>GSubstitution - coding silent
ELF2ENSG00000109381ENST00000358635p.L251*c.752T>GSubstitution - Nonsense
ATXN2LENSG00000168488ENST00000325215p.Y710Yc.2130C>TSubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.V101Vc.303C>ASubstitution - coding silent
RGL2ENSG00000237441ENST00000444031p.A416Vc.1247C>TSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.V963Mc.2887G>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.?c.618+8G>TUnknown
ENST00000342288p.N1737Kc.5211T>GSubstitution - Missense
ENST00000316490_v65p.K2680fs*81c.8036_8037insGInsertion - Frameshift
ENST00000300671p.T4383Tc.13149T>CSubstitution - coding silent
PELI2ENSG00000139946ENST00000267460p.F262Lc.784T>CSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.R763Cc.2287C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.H450Yc.1348C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.R2329Sc.6987G>CSubstitution - Missense
DENND1BENSG00000213047ENST00000367396p.T88Rc.263C>GSubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.M1Ic.3G>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.E9Kc.25G>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.S1378Sc.4134T>CSubstitution - coding silent
LY9ENSG00000122224ENST00000368041p.T253Mc.758C>TSubstitution - Missense
CENPJENSG00000151849ENST00000381884p.?c.444+5A>GUnknown
ZNF891ENSG00000214029ENST00000397313p.H171Hc.513T>CSubstitution - coding silent
C1orf85ENSG00000198715ENST00000362007p.T138Tc.414G>ASubstitution - coding silent
NCKAP1LENSG00000123338ENST00000293373p.?c.506+4A>GUnknown
CCDC149ENSG00000181982ENST00000504487p.V527Mc.1579G>ASubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.Q1047fs*63c.3141_3150del10Deletion - Frameshift
BRWD3ENSG00000165288ENST00000373275p.L589Wc.1766T>GSubstitution - Missense
SERPINE1ENSG00000106366ENST00000223095p.I375Vc.1123A>GSubstitution - Missense
NM_006904p.R2753Qc.8258G>ASubstitution - Missense
EFHBENSG00000163576ENST00000295824p.P713Lc.2138C>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359125p.E656Kc.1966G>ASubstitution - Missense
ARHGDIGENSG00000242173ENST00000219409p.H210Yc.628C>TSubstitution - Missense
PCED1AENSG00000132635ENST00000360652p.P197Sc.589C>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.W462Gc.1384T>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.Q1006Kc.3016C>ASubstitution - Missense
TNKSENSG00000173273ENST00000310430p.A599Tc.1795G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.D114Yc.340G>TSubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.T732Tc.2196C>TSubstitution - coding silent
ENST00000418096p.I15Vc.43A>GSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.R1202Wc.3604C>TSubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.H202Yc.604C>TSubstitution - Missense
PTK2BENSG00000120899ENST00000397501p.T842Mc.2525C>TSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.P142Lc.425C>TSubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.?c.160_172-1del233Unknown
FNBP1ENSG00000187239ENST00000420781p.L477Ic.1429C>ASubstitution - Missense
CT45A1ENSG00000232478ENST00000370741p.I189Vc.565A>GSubstitution - Missense
ENPP3ENSG00000154269ENST00000427148p.S244Sc.732A>CSubstitution - coding silent
INADLENSG00000132849ENST00000371158p.K947Ec.2839A>GSubstitution - Missense
CLEC18BENSG00000140839ENST00000339953p.A174Ac.522G>ASubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.E743Dc.2229G>TSubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.?c.1590-4C>TUnknown
PDE8AENSG00000073417ENST00000310298p.A227Ac.681A>GSubstitution - coding silent
PLD3ENSG00000105223ENST00000359274p.P43Lc.128C>TSubstitution - Missense
AXLENSG00000167601ENST00000359092p.L78Fc.232C>TSubstitution - Missense
FAM53CENSG00000120709ENST00000239906p.R249Qc.746G>ASubstitution - Missense
ENST00000255667p.L66Lc.198C>TSubstitution - coding silent
KIF15ENSG00000163808ENST00000326047p.E1306fs*3c.3911delADeletion - Frameshift
KALRNENSG00000160145ENST00000240874p.?c.2703+1G>AUnknown
BCS1LENSG00000074582ENST00000392109p.T74Tc.222T>CSubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.A262Tc.784G>ASubstitution - Missense
CXCL6ENSG00000124875ENST00000226317p.S83Sc.249C>GSubstitution - coding silent
RPGRIP1LENSG00000103494ENST00000379925p.T782Pc.2344A>CSubstitution - Missense
CLSPNENSG00000092853ENST00000251195p.?c.3748-5C>TUnknown
AKAP1ENSG00000121057ENST00000314126p.V63Fc.187G>TSubstitution - Missense
WDR52ENSG00000206530ENST00000308346p.E299Kc.895G>ASubstitution - Missense
NOSTRINENSG00000163072ENST00000317647p.A445Sc.1333G>TSubstitution - Missense
TNXBENSG00000168477ENST00000451343p.F488Fc.1464T>CSubstitution - coding silent
GGA2ENSG00000103365ENST00000309859p.Q75Kc.223C>ASubstitution - Missense
PLB1ENSG00000163803ENST00000422425p.D749Nc.2245G>ASubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.G410Rc.1228G>ASubstitution - Missense
CCDC40ENSG00000141519ENST00000397545p.T574Nc.1721C>ASubstitution - Missense
RHBDF2ENSG00000129667ENST00000313080p.V373Mc.1117G>ASubstitution - Missense
ATP11AENSG00000068650ENST00000375630p.R638Qc.1913G>ASubstitution - Missense
XM_046751.7p.K282fs*10c.842_863del22Deletion - Frameshift
AKR1C1ENSG00000187134ENST00000380872p.N167Sc.500A>GSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.E2094*c.6280G>TSubstitution - Nonsense
P2RX7ENSG00000089041ENST00000546057p.Q148Hc.444G>CSubstitution - Missense
ABCF3ENSG00000161204ENST00000429586p.?c.1884-4C>TUnknown
TNXBENSG00000168477ENST00000375244p.F4059Fc.12177T>CSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.R1668Wc.5002C>TSubstitution - Missense
ENST00000573521_v68p.F707Fc.2121C>TSubstitution - coding silent
CAGE1ENSG00000164304ENST00000296742p.D152Yc.454G>TSubstitution - Missense
CSNK1G2ENSG00000133275ENST00000255641p.?c.683-6C>TUnknown
ENSG00000228273ENST00000379458p.T240Tc.720G>CSubstitution - coding silent
ENST00000358511_v70p.F245Ic.733T>ASubstitution - Missense
IQCEENSG00000106012ENST00000402050p.L340Pc.1019T>CSubstitution - Missense
PDHA2ENSG00000163114ENST00000295266p.H358Rc.1073A>GSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.Q1881Rc.5642A>GSubstitution - Missense
BROXENSG00000162819ENST00000340934p.L244Fc.732G>TSubstitution - Missense
QARSENSG00000172053ENST00000306125p.R403Wc.1207C>TSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.G334Gc.1002C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.S1585Sc.4755G>ASubstitution - coding silent
TULP2ENSG00000104804ENST00000221399p.R159Ic.476G>TSubstitution - Missense
SEC31AENSG00000138674ENST00000264405p.Y690Yc.2070C>TSubstitution - coding silent
CAPN14ENSG00000214711ENST00000444918p.T524Ac.1570A>GSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.E656Kc.1966G>ASubstitution - Missense
CNOT10ENSG00000182973ENST00000454516p.V167Vc.501T>GSubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.P255Sc.763C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.M267Lc.799A>CSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.H1485Dc.4453C>GSubstitution - Missense
CACNA2D2ENSG00000007402ENST00000424201p.A1096Vc.3287C>TSubstitution - Missense
LRPAP1ENSG00000163956ENST00000500728p.E108fs*26c.322delGDeletion - Frameshift
SETD5ENSG00000168137ENST00000302463p.A951Tc.2851G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.Q990Kc.2968C>ASubstitution - Missense
HRENSG00000168453ENST00000381418p.A964Tc.2890G>ASubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.V127Mc.379G>ASubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.R638Qc.1913G>ASubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.M487Lc.1459A>CSubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.S515Fc.1544C>TSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.R763Cc.2287C>TSubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.D126Ec.378C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.R2329Sc.6987G>CSubstitution - Missense
YME1L1ENSG00000136758ENST00000326799p.H669Yc.2005C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.L2531Fc.7591C>TSubstitution - Missense
ENST00000563027_v68p.A563Ac.1689T>CSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361209p.L216Lc.648G>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.T2185Tc.6555G>CSubstitution - coding silent
FOXN2ENSG00000170802ENST00000340553p.L407Vc.1219C>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.R918Sc.2754A>CSubstitution - Missense
MCM6ENSG00000076003ENST00000264156p.N327Kc.981C>ASubstitution - Missense
ENST00000357909p.A738Tc.2212G>ASubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.N844Nc.2532T>CSubstitution - coding silent
CNOT10ENSG00000182973ENST00000328834p.V107Vc.321T>GSubstitution - coding silent
C21orf58ENSG00000160298ENST00000291691p.L85Lc.253C>TSubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.265+1_266-1del825Unknown
EFSENSG00000100842ENST00000216733p.P104Pc.312G>ASubstitution - coding silent
ENST00000368526p.H260Rc.779A>GSubstitution - Missense
AGTENSG00000135744ENST00000366667p.E431fs*1c.1282_1283insTInsertion - Frameshift
COL11A1ENSG00000060718ENST00000370096p.S1573Sc.4719G>ASubstitution - coding silent
MAP3K13ENSG00000073803ENST00000535426p.M123Lc.367A>CSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.P541Ac.1621C>GSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.R2612Wc.7834C>TSubstitution - Missense
NLRC3ENSG00000167984ENST00000324659p.A353Tc.1057G>ASubstitution - Missense
ENST00000407686p.I193Vc.577A>GSubstitution - Missense
ARVCFENSG00000099889ENST00000263207p.R817Pc.2450G>CSubstitution - Missense
CCDC68ENSG00000166510ENST00000337363p.S87Gc.259A>GSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.D1550Gc.4649A>GSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.P2351Pc.7053C>TSubstitution - coding silent
BTN1A1ENSG00000124557ENST00000244513p.L139Pc.416T>CSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.T398Sc.1193C>GSubstitution - Missense
ENST00000434864p.E84Kc.250G>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.?c.721-9C>TUnknown
PRKDCENSG00000253729ENST00000314191p.R198Rc.594C>TSubstitution - coding silent
INSM1ENSG00000173404ENST00000310227p.L241Lc.721C>TSubstitution - coding silent
ENST00000313929p.G295Sc.883G>ASubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.R684Rc.2052C>TSubstitution - coding silent
CITENSG00000122966ENST00000392521p.A949Ac.2847G>ASubstitution - coding silent
PLB1ENSG00000163803ENST00000329020p.D448Nc.1342G>ASubstitution - Missense
ZNF788ENSG00000214189ENST00000397759p.I116Tc.347T>CSubstitution - Missense
NOP2ENSG00000111641ENST00000322166p.K479Rc.1436A>GSubstitution - Missense
BSPRYENSG00000119411ENST00000374183p.D270Dc.810C>TSubstitution - coding silent
ENST00000309900p.K238fs*81c.710_711insGInsertion - Frameshift
ODF1ENSG00000155087ENST00000285402p.E155*c.463G>TSubstitution - Nonsense
BCKDHBENSG00000083123ENST00000356489p.P185Pc.555T>CSubstitution - coding silent
NM_133482.1p.R877Gc.2629A>GSubstitution - Missense
NM_133482.1p.A1030Ac.3090C>TSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000513200p.A671Sc.2011G>TSubstitution - Missense
ESYT3ENSG00000158220ENST00000389567p.M575Ic.1725G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.L1824Fc.5472G>TSubstitution - Missense
TMCC1ENSG00000172765ENST00000393238p.F648Lc.1944C>GSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.D840Nc.2518G>ASubstitution - Missense
EFCAB4BENSG00000130038ENST00000440314p.Q207*c.619C>TSubstitution - Nonsense
KDM5BENSG00000117139ENST00000367265p.R1149Cc.3445C>TSubstitution - Missense
ANPEPENSG00000166825ENST00000300060p.F327Lc.979T>CSubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.V444Vc.1332G>ASubstitution - coding silent
SIKE1ENSG00000052723ENST00000060969p.?c.159+1_160-1del233Unknown
ALPK3ENSG00000136383ENST00000258888p.Q1881Rc.5642A>GSubstitution - Missense
RPP30ENSG00000148688ENST00000413330p.S13Cc.38C>GSubstitution - Missense
GRID1ENSG00000182771ENST00000327946p.H807Hc.2421C>TSubstitution - coding silent
C15orf59ENSG00000205363ENST00000379822p.P128Pc.384C>TSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.V950Ic.2848G>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.I326Vc.976A>GSubstitution - Missense
FKBP15ENSG00000119321ENST00000414250p.P439Pc.1317G>ASubstitution - coding silent
ADAD1ENSG00000164113ENST00000296513p.G396Ac.1187G>CSubstitution - Missense
RNASEH1ENSG00000171865ENST00000315212p.R157Qc.470G>ASubstitution - Missense
ENST00000405167p.V3123Vc.9369C>TSubstitution - coding silent
METTL8ENSG00000123600ENST00000375258p.?c.144-2A>GUnknown
PLECENSG00000178209ENST00000345136p.L3362Pc.10085T>CSubstitution - Missense
CNOT7ENSG00000198791ENST00000361272p.E114Kc.340G>ASubstitution - Missense
BTN2A2ENSG00000124508ENST00000356709p.R347Rc.1041A>GSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.V1643Vc.4929G>TSubstitution - coding silent
SLC1A1ENSG00000106688ENST00000262352p.C158Gc.472T>GSubstitution - Missense
TECRENSG00000099797ENST00000215567p.C165Cc.495C>TSubstitution - coding silent
GIMAP5ENSG00000196329ENST00000358647p.E284Kc.850G>ASubstitution - Missense
LHX3ENSG00000107187ENST00000371746p.Q254Kc.760C>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L2822Pc.8465T>CSubstitution - Missense
GUCY1B3ENSG00000061918ENST00000264424p.G35Gc.105A>GSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.H1809Hc.5427C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.R4078Kc.12233G>ASubstitution - Missense
TRIP11ENSG00000100815ENST00000267622p.Q805Kc.2413C>ASubstitution - Missense
KIAA0586ENSG00000100578ENST00000261244p.M1113Tc.3338T>CSubstitution - Missense
EFCAB4BENSG00000130038ENST00000444507p.Q207*c.619C>TSubstitution - Nonsense
LMOD1ENSG00000163431ENST00000367288p.V309Vc.927G>ASubstitution - coding silent
OR2C3ENSG00000196242ENST00000366487p.A148Tc.442G>ASubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.T105Nc.314C>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.G4032Gc.12096C>ASubstitution - coding silent
GLB1L3ENSG00000166105ENST00000431683p.M639Kc.1916T>ASubstitution - Missense
FAM131CENSG00000185519ENST00000375662p.D170Dc.510C>TSubstitution - coding silent
ACCSENSG00000110455ENST00000263776p.R434Rc.1302C>ASubstitution - coding silent
INTS7ENSG00000143493ENST00000366994p.N914Nc.2742T>CSubstitution - coding silent
REEP5ENSG00000129625ENST00000379638p.E76Vc.227A>TSubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.A348Tc.1042G>ASubstitution - Missense
WARS2ENSG00000116874ENST00000235521p.A281Ac.843G>TSubstitution - coding silent
OXR1ENSG00000164830ENST00000517566p.G810Gc.2430A>TSubstitution - coding silent
FREM1ENSG00000164946ENST00000380894p.L98Vc.292C>GSubstitution - Missense
ENST00000380437p.?c.459-6C>TUnknown
VRK2ENSG00000028116ENST00000435505p.V342Ac.1025T>CSubstitution - Missense
RUFY1ENSG00000176783ENST00000319449p.K328Ec.982A>GSubstitution - Missense
PRSS54ENSG00000103023ENST00000219301p.C248Fc.743G>TSubstitution - Missense
PDCL3ENSG00000115539ENST00000264254p.D58Nc.172G>ASubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.G401Ac.1202G>CSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.M776Tc.2327T>CSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.E344Vc.1031A>TSubstitution - Missense
CNGA1ENSG00000198515ENST00000358519p.G681Ac.2042G>CSubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.?c.721-9C>TUnknown
DMTF1ENSG00000135164ENST00000394702p.S18Fc.53C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.E989Vc.2966A>TSubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.Q180*c.538C>TSubstitution - Nonsense
PCDHGA9ENSG00000261934ENST00000573521p.F707Fc.2121C>TSubstitution - coding silent
C9orf96ENSG00000198870ENST00000371957p.Q541*c.1621C>TSubstitution - Nonsense
FKBP15ENSG00000119321ENST00000238256p.P414Pc.1242G>ASubstitution - coding silent
ZNF189ENSG00000136870ENST00000339664p.R138Hc.413G>ASubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.S804Nc.2411G>ASubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.P346Lc.1037C>TSubstitution - Missense


COSMIC

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