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LB2518-MEL - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

731 mutations reported
305 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
GCOM1ENSG00000137878ENST00000574161p.F397Fc.1191C>TSubstitution - coding silent
GPR135ENSG00000181619ENST00000395116p.P465Lc.1394C>TSubstitution - Missense
FAM189BENSG00000160767ENST00000361361p.F591Fc.1773C>TSubstitution - coding silent
GBP4ENSG00000162654ENST00000355754p.E266Kc.796G>ASubstitution - Missense
F7ENSG00000057593ENST00000375581p.L231Lc.693G>ASubstitution - coding silent
ATP12AENSG00000075673ENST00000381946p.S612Sc.1836C>TSubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.?c.4561-8C>TUnknown
RAD21L1ENSG00000244588ENST00000409241p.S240Fc.719C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V12678Vc.38034G>ASubstitution - coding silent
GULP1ENSG00000144366ENST00000359135p.T237Kc.710C>ASubstitution - Missense
ANKARENSG00000151687ENST00000313581p.?c.388+5_388+26>21Unknown
ENST00000300671p.D1608Nc.4822G>ASubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.F497Fc.1491T>CSubstitution - coding silent
PEX26ENSG00000215193ENST00000399744p.A259Vc.776C>TSubstitution - Missense
KLHDC4ENSG00000104731ENST00000270583p.V183Vc.549G>TSubstitution - coding silent
C4orf21ENSG00000138658ENST00000505019p.S1047Fc.3140C>TSubstitution - Missense
ACACAENSG00000132142ENST00000353139p.F1395Fc.4185C>TSubstitution - coding silent
RP9ENSG00000164610ENST00000297157p.D172Yc.514G>TSubstitution - Missense
BMPERENSG00000164619ENST00000297161p.S207Fc.620C>TSubstitution - Missense
FGF18ENSG00000156427ENST00000274625p.?c.357+9T>GUnknown
HBG1ENSG00000213934ENST00000330597p.L107Lc.321G>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000218548p.S618Sc.1854C>TSubstitution - coding silent
AK5ENSG00000154027ENST00000354567p.L444Lc.1332G>ASubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.S236Sc.708C>TSubstitution - coding silent
THADAENSG00000115970ENST00000405975p.L378Lc.1132C>TSubstitution - coding silent
DISC1ENSG00000162946ENST00000366636p.P395Sc.1183C>TSubstitution - Missense
PRAMEF12ENSG00000116726ENST00000357726p.E215Kc.643G>ASubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.D1320Nc.3958G>ASubstitution - Missense
GCOM1ENSG00000137878ENST00000380569p.F397Fc.1191C>TSubstitution - coding silent
ENST00000331986p.S5453Fc.16358C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Q6610Qc.19830G>ASubstitution - coding silent
FASTKD2ENSG00000118246ENST00000236980p.Q616_L618delQVLc.1846_1854delCAAGTGCTADeletion - In frame
BOD1L1ENSG00000038219ENST00000040738p.I1114Ic.3342C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.D44Vc.131A>TSubstitution - Missense
CCDC102BENSG00000150636ENST00000360242p.?c.1264-10C>TUnknown
KIAA0368ENSG00000136813ENST00000259335p.A1425Ac.4275C>ASubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.S875Fc.2624C>TSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.F105Lc.313T>CSubstitution - Missense
ADAM28ENSG00000042980ENST00000437154p.D470Nc.1408G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.A48Ac.144C>TSubstitution - coding silent
PDE7BENSG00000171408ENST00000308191p.E350Kc.1048G>ASubstitution - Missense
TESPA1ENSG00000135426ENST00000449076p.S266Sc.798C>ASubstitution - coding silent
GLYATL1ENSG00000166840ENST00000317391p.E271Kc.811G>ASubstitution - Missense
ENST00000299136p.?c.271-8C>TUnknown
VPS13CENSG00000129003ENST00000261517p.Q1615*c.4843C>TSubstitution - Nonsense
AGBL4ENSG00000186094ENST00000371838p.D14Nc.40G>ASubstitution - Missense
ENST00000377689p.T202Tc.606G>ASubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.P1476Lc.4427C>TSubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.R65Wc.193C>TSubstitution - Missense
SYT14ENSG00000143469ENST00000399639p.D98Nc.292G>ASubstitution - Missense
IL17RAENSG00000177663ENST00000319363p.P374Lc.1121C>TSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.S1739Fc.5216C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.H449Yc.1345C>TSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.R889Rc.2667G>ASubstitution - coding silent
DQX1ENSG00000144045ENST00000393951p.D223Nc.667G>ASubstitution - Missense
MAPK14ENSG00000112062ENST00000229795p.?c.117-33_119del36Unknown
TULP1ENSG00000112041ENST00000229771p.R280Gc.838A>GSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.S848Fc.2543C>TSubstitution - Missense
ENST00000329144p.T59Tc.177C>TSubstitution - coding silent
TGENSG00000042832ENST00000220616p.P2684Lc.8051C>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000452168p.E150Kc.448G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.L1284Lc.3852G>ASubstitution - coding silent
NRASENSG00000213281ENST00000369535p.Q61Kc.181C>ASubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.M1Ic.3G>ASubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.D288Nc.862G>ASubstitution - Missense
GRIK4ENSG00000149403ENST00000527524p.I710Ic.2130C>TSubstitution - coding silent
UBR1ENSG00000159459ENST00000290650p.S597Ac.1789T>GSubstitution - Missense
SPTY2D1ENSG00000179119ENST00000336349p.I547Ic.1641C>TSubstitution - coding silent
NUDCENSG00000090273ENST00000321265p.L137Fc.409C>TSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.G1576Ec.4727G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.Q548*c.1642C>TSubstitution - Nonsense
CD300EENSG00000186407ENST00000328630p.Q107*c.319C>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.E5018Kc.15052G>ASubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.D291Nc.871G>ASubstitution - Missense
ALPIENSG00000163295ENST00000295463p.S382Fc.1145C>TSubstitution - Missense
APOBEC3GENSG00000239713ENST00000407997p.F107Fc.321C>TSubstitution - coding silent
TRAPPC13ENSG00000113597ENST00000545191p.?c.547-10T>CUnknown
NM_144488.2p.I8Ic.24C>TSubstitution - coding silent
ANTXR2ENSG00000163297ENST00000403729p.A70Ac.210G>ASubstitution - coding silent
PRKCIENSG00000163558ENST00000295797p.P118Lc.353C>TSubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.L351Fc.1051C>TSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.D1930Nc.5788G>ASubstitution - Missense
MAGENSG00000105695ENST00000392213p.F460Fc.1380C>TSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.T1129Ic.3386C>TSubstitution - Missense
OR4K15ENSG00000169488ENST00000305051p.P49Lc.146C>TSubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.?c.2212-10C>GUnknown
C1orf127ENSG00000175262ENST00000377004p.S724Fc.2171C>TSubstitution - Missense
ACSM1ENSG00000166743ENST00000219151p.H20Yc.58C>TSubstitution - Missense
LRRC53ENSG00000162621ENST00000416014p.N58Ic.173A>TSubstitution - Missense
ENST00000344648p.P877Sc.2629C>TSubstitution - Missense
MED25ENSG00000104973ENST00000312865p.P275Sc.823C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.P1476Lc.4427C>TSubstitution - Missense
ENST00000405167p.T3487Ic.10460C>TSubstitution - Missense
GDF15ENSG00000130513ENST00000252809p.G96Gc.288A>GSubstitution - coding silent
SLITRK2ENSG00000185985ENST00000447897p.I164_D167delILNDc.489_500del12Deletion - In frame
SCN7AENSG00000136546ENST00000409855p.E1593Kc.4777G>ASubstitution - Missense
ENST00000298953_v70p.F409Sc.1226T>CSubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.G562Gc.1686G>ASubstitution - coding silent
RFX4ENSG00000111783ENST00000229387p.?c.552-10C>TUnknown
PSG6ENSG00000170848ENST00000187910p.S339Lc.1016C>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.E247Kc.739G>ASubstitution - Missense
ENST00000366638p.P427Sc.1279C>TSubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.?c.1288-8C>TUnknown
DSC3ENSG00000134762ENST00000434452p.R65Wc.193C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.R1891Cc.5671C>TSubstitution - Missense
LPAENSG00000198670ENST00000316300p.G1171Gc.3513T>CSubstitution - coding silent
APOBEC3GENSG00000239713ENST00000407997p.F107Fc.321C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.A352Vc.1055C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A48Ac.144C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374283p.D451Nc.1351G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.P664Sc.1990C>TSubstitution - Missense
PDE1CENSG00000154678ENST00000396193p.K758Kc.2274G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000393550p.F88Lc.262T>CSubstitution - Missense
ENST00000316490_v65p.S848Fc.2543C>TSubstitution - Missense
RC3H2ENSG00000056586ENST00000373670p.L293Lc.879C>TSubstitution - coding silent
C12orf40ENSG00000180116ENST00000398716p.E176Kc.526G>ASubstitution - Missense
SCELENSG00000136155ENST00000349847p.R65Qc.194G>ASubstitution - Missense
TPOENSG00000115705ENST00000345913p.I457Ic.1371C>TSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.G1364Ec.4091G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.D44Vc.131A>TSubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.I715Ic.2145C>TSubstitution - coding silent
SETBP1ENSG00000152217ENST00000282030p.R544*c.1630C>TSubstitution - Nonsense
SLC22A6ENSG00000197901ENST00000377871p.F152Fc.456C>TSubstitution - coding silent
NEBLENSG00000078114ENST00000377122p.W991*c.2972G>ASubstitution - Nonsense
MUC2ENSG00000198788ENST00000441003p.D1319Nc.3955G>ASubstitution - Missense
OR4M2ENSG00000182974ENST00000332663p.I157Ic.471C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.E1442Kc.4324G>ASubstitution - Missense
ENST00000262017p.?c.2302-1G>AUnknown
ENST00000356127p.Q6610Qc.19830G>ASubstitution - coding silent
CALCRENSG00000004948ENST00000359558p.A441Tc.1321G>ASubstitution - Missense
CALCRENSG00000004948ENST00000394441p.A407Tc.1219G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.D1782Nc.5344G>ASubstitution - Missense
HS3ST1ENSG00000002587ENST00000002596p.K128Nc.384A>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.T1045Ic.3134C>TSubstitution - Missense
NPVFENSG00000105954ENST00000222674p.A106Tc.316G>ASubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.D1156Hc.3466G>CSubstitution - Missense
C9orf84ENSG00000165181ENST00000394779p.D348Nc.1042G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.R223Qc.668G>ASubstitution - Missense
HLA-DRAENSG00000204287ENST00000395388p.?c.611-1G>AUnknown
UGT1A8ENSG00000241635ENST00000360418p.N220Sc.659A>GSubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.R457Cc.1369C>TSubstitution - Missense
ENST00000268134p.P1778Lc.5333C>TSubstitution - Missense
HTR1DENSG00000179546ENST00000374619p.R225Qc.674G>ASubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.L749Lc.2245C>TSubstitution - coding silent
ACSM2AENSG00000183747ENST00000396104p.E58Kc.172G>ASubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.?c.16-4C>TUnknown
NT5C1BENSG00000185013ENST00000359846p.E223Kc.667G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E4326Kc.12976G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E4393Kc.13177G>ASubstitution - Missense
ENST00000312881p.P275Sc.823C>TSubstitution - Missense
CALCRENSG00000004948ENST00000394441p.G168Ec.503G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.V3503Vc.10509C>TSubstitution - coding silent
CHN1ENSG00000128656ENST00000295497p.E78Kc.232G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.H449Yc.1345C>TSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.E705Ec.2115G>ASubstitution - coding silent
NM_033267.2p.T179Ic.536C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.L45Lc.133T>CSubstitution - coding silent
IQSEC1ENSG00000144711ENST00000429247p.P59Rc.176C>GSubstitution - Missense
FCN2ENSG00000160339ENST00000291744p.Y156Yc.468C>TSubstitution - coding silent
MAGEA6ENSG00000197172ENST00000329342p.E313Kc.937G>ASubstitution - Missense
ADRA1BENSG00000170214ENST00000306675p.?c.950-10C>TUnknown
ZNF165ENSG00000197279ENST00000377325p.F338Fc.1014C>TSubstitution - coding silent
FBXO43ENSG00000156509ENST00000428847p.S577Lc.1730C>TSubstitution - Missense
GPX5ENSG00000224586ENST00000412168p.I179Ic.537C>TSubstitution - coding silent
EPC2ENSG00000135999ENST00000258484p.Q489*c.1465C>TSubstitution - Nonsense
FGFR4ENSG00000160867ENST00000292408p.I370Ic.1110C>TSubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.P174Sc.520C>TSubstitution - Missense
BFARENSG00000103429ENST00000261658p.I314Ic.942C>TSubstitution - coding silent
UNKLENSG00000059145ENST00000397462p.T190Tc.570G>ASubstitution - coding silent
TTF2ENSG00000116830ENST00000369466p.S883Sc.2649C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.G949Gc.2847G>ASubstitution - coding silent
CA6ENSG00000131686ENST00000377443p.L12Lc.34C>TSubstitution - coding silent
JPH3ENSG00000154118ENST00000284262p.E459Kc.1375G>ASubstitution - Missense
GUCA1CENSG00000138472ENST00000393963p.K161Kc.483G>ASubstitution - coding silent
KIF1AENSG00000130294ENST00000320389p.L372Lc.1116G>ASubstitution - coding silent
SLC30A3ENSG00000115194ENST00000233535p.R290Qc.869G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.E681Kc.2041G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.D1782Nc.5344G>ASubstitution - Missense
HOMER1ENSG00000152413ENST00000334082p.I6Ic.18C>TSubstitution - coding silent
OR13F1ENSG00000186881ENST00000334726p.G88Gc.264G>ASubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.G1142fs*30c.3424_3431delGGGGGCATDeletion - Frameshift
HBG2ENSG00000196565ENST00000380259p.L107Lc.321G>TSubstitution - coding silent
DMKNENSG00000161249ENST00000429837p.S289Lc.866C>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000373157p.D195Nc.583G>ASubstitution - Missense
NM_020856.1p.S173Sc.519C>TSubstitution - coding silent
PODXLENSG00000128567ENST00000541194p.M316Ic.948G>ASubstitution - Missense
FAM160A2ENSG00000051009ENST00000265978p.L403Lc.1207C>TSubstitution - coding silent
PUS1ENSG00000177192ENST00000376649p.?c.545-8C>TUnknown
TTC39AENSG00000085831ENST00000371750p.E179Kc.535G>ASubstitution - Missense
BPIFB1ENSG00000125999ENST00000253354p.I112Ic.336C>TSubstitution - coding silent
ENST00000318252p.G257Gc.771G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3487Ic.10460C>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.G833Ec.2498G>ASubstitution - Missense
PERPENSG00000112378ENST00000421351p.I162Ic.486C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.M549Ic.1647G>ASubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.P240Lc.719C>TSubstitution - Missense
ENST00000316490p.F88Lc.262T>CSubstitution - Missense
STXBP1ENSG00000136854ENST00000373302p.?c.1030-5C>AUnknown
TGENSG00000042832ENST00000220616p.R931Cc.2791C>TSubstitution - Missense
NM_206943.1p.R649*c.1945C>TSubstitution - Nonsense
CNTNAP3ENSG00000106714ENST00000358144p.P672Lc.2015C>TSubstitution - Missense
REEP2ENSG00000132563ENST00000254901p.I70Ic.210C>TSubstitution - coding silent
RFX4ENSG00000111783ENST00000357881p.?c.861-10C>TUnknown
CSMD2ENSG00000121904ENST00000373381p.E1629Kc.4885G>ASubstitution - Missense
TRIM9ENSG00000100505ENST00000338969p.S796Fc.2387C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S9820Fc.29459C>TSubstitution - Missense
DDX27ENSG00000124228ENST00000371764p.E51Kc.151G>ASubstitution - Missense
CORINENSG00000145244ENST00000273857p.G945Rc.2833G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.?c.12676+1G>AUnknown
ACOXLENSG00000153093ENST00000389811p.T255Tc.765G>ASubstitution - coding silent
GNAT3ENSG00000214415ENST00000398291p.E318Kc.952G>ASubstitution - Missense
SLC6A1ENSG00000157103ENST00000287766p.S243Lc.728C>TSubstitution - Missense
IFNA17ENSG00000234829ENST00000413767p.R144Rc.432G>ASubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.R3117Wc.9349C>TSubstitution - Missense
ZNF862ENSG00000106479ENST00000223210p.G1093Gc.3279C>TSubstitution - coding silent
C19orf57ENSG00000132016ENST00000346736p.D230Nc.688G>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000335387p.L293Lc.879C>TSubstitution - coding silent
LEPREL1ENSG00000090530ENST00000319332p.D367Nc.1099G>ASubstitution - Missense
GHRENSG00000112964ENST00000230882p.F528Fc.1584C>TSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.E1593Kc.4777G>ASubstitution - Missense
DHX30ENSG00000132153ENST00000445061p.K760Kc.2280G>ASubstitution - coding silent
OR10G4ENSG00000254737ENST00000320891p.R310Rc.930G>ASubstitution - coding silent
C12orf55ENSG00000188596ENST00000298953p.F409Sc.1226T>CSubstitution - Missense
OR2G3ENSG00000177476ENST00000320002p.R302Rc.906G>ASubstitution - coding silent
KIF21BENSG00000116852ENST00000332129p.V1196Ic.3586G>ASubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.P234Sc.700C>TSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.Q1615*c.4843C>TSubstitution - Nonsense
C6ENSG00000039537ENST00000263413p.F279Fc.837C>TSubstitution - coding silent
ANKARENSG00000151687ENST00000520309p.?c.601+5_601+26>21Unknown
MUC16ENSG00000181143ENST00000397910p.G7739Ec.23216G>ASubstitution - Missense
TLE2ENSG00000065717ENST00000262953p.A547Ac.1641C>TSubstitution - coding silent
MALENSG00000172005ENST00000309988p.T112Mc.335C>TSubstitution - Missense
GALNT9ENSG00000182870ENST00000328957p.R221Rc.663G>ASubstitution - coding silent
OR2D3ENSG00000178358ENST00000317834p.G219Dc.656G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.E1589Kc.4765G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.S640Fc.1919C>TSubstitution - Missense
ENST00000299218p.?c.748+10C>TUnknown
TOR1AIP2ENSG00000169905ENST00000367612p.P327Sc.979C>TSubstitution - Missense
IGSF21ENSG00000117154ENST00000251296p.P241Lc.722C>TSubstitution - Missense
TTC39AENSG00000085831ENST00000262676p.E175Kc.523G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.E1464Kc.4390G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A748Tc.2242G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.G5551Rc.16651G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G5001Gc.15003G>ASubstitution - coding silent
ATXN7ENSG00000163635ENST00000398590p.P434Sc.1300C>TSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.H1549Lc.4646A>TSubstitution - Missense
OTOP1ENSG00000163982ENST00000296358p.G157Ec.470G>ASubstitution - Missense
PDS5AENSG00000121892ENST00000303538p.S829Sc.2487C>TSubstitution - coding silent
GK2ENSG00000196475ENST00000358842p.A363Ac.1089C>TSubstitution - coding silent
MGLLENSG00000074416ENST00000398104p.R240Cc.718C>TSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.E837Ec.2511G>ASubstitution - coding silent
ZNF85ENSG00000105750ENST00000328178p.S522Sc.1566C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374287p.D387Nc.1159G>ASubstitution - Missense
EIF3DENSG00000100353ENST00000216190p.?c.1633+5G>TUnknown
FCN2ENSG00000160339ENST00000291744p.R157Wc.469C>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.R1224Cc.3670C>TSubstitution - Missense
DMKNENSG00000161249ENST00000419602p.S319Lc.956C>TSubstitution - Missense
UPK1AENSG00000105668ENST00000222275p.G53Ec.158G>ASubstitution - Missense
OR10H1ENSG00000186723ENST00000334920p.A238Tc.712G>ASubstitution - Missense
OR10H1ENSG00000186723ENST00000334920p.L33Lc.99G>ASubstitution - coding silent
PKP4ENSG00000144283ENST00000389759p.E705fs*66c.2108_2109insGInsertion - Frameshift
NEU1ENSG00000204386ENST00000375631p.G24Rc.70G>ASubstitution - Missense
CD40ENSG00000101017ENST00000372285p.G266Dc.797G>ASubstitution - Missense
ENST00000377560_v62p.L2739Fc.8215C>TSubstitution - Missense
NESENSG00000132688ENST00000368223p.R1405Qc.4214G>ASubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.T1129Tc.3387C>TSubstitution - coding silent
PCCAENSG00000175198ENST00000376285p.?c.819+9A>GUnknown
COL2A1ENSG00000139219ENST00000380518p.?c.2518-9C>TUnknown
HINFPENSG00000172273ENST00000350777p.I218Ic.654C>TSubstitution - coding silent
ENST00000426033p.L770Lc.2310G>ASubstitution - coding silent
FMODENSG00000122176ENST00000354955p.R95Cc.283C>TSubstitution - Missense
NCAM1ENSG00000149294ENST00000316851p.S683Fc.2048C>TSubstitution - Missense
SNX1ENSG00000028528ENST00000559844p.?c.1016-7C>TUnknown
ENST00000389961_v65p.S220Sc.660C>TSubstitution - coding silent
CHD5ENSG00000116254ENST00000262450p.G1710Ac.5129G>CSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.S356Sc.1068C>TSubstitution - coding silent
ENSG00000257743ENST00000477922p.V10Vc.30C>TSubstitution - coding silent
SEPT10ENSG00000186522ENST00000397714p.S411Fc.1232C>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000339077p.R562Cc.1684C>TSubstitution - Missense
APOBEC3GENSG00000239713ENST00000407997p.L108Lc.322C>TSubstitution - coding silent
SSTR3ENSG00000183473ENST00000328544p.L70Lc.208C>TSubstitution - coding silent
CAPNS1ENSG00000126247ENST00000246533p.?c.526-7C>TUnknown
PDE1CENSG00000154678ENST00000396191p.K698Kc.2094G>ASubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.G4288Rc.12862G>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.S459Wc.1376C>GSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.K1221fs*23c.3657_3660delAAAGDeletion - Frameshift
SERAC1ENSG00000122335ENST00000367102p.S497Lc.1490C>TSubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.R401Qc.1202G>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.G1757Gc.5271C>TSubstitution - coding silent
STK33ENSG00000130413ENST00000447869p.T79Tc.237C>TSubstitution - coding silent
OR8D2ENSG00000197263ENST00000357438p.L43Lc.129G>ASubstitution - coding silent
OR8A1ENSG00000196119ENST00000284287p.G220Ec.659G>ASubstitution - Missense
OR6C3ENSG00000205329ENST00000379667p.P180Sc.538C>TSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.E184Kc.550G>ASubstitution - Missense
OR8S1ENSG00000197376ENST00000310194p.E269Kc.805G>ASubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.P452Sc.1354C>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.K837fs*23c.2505_2508delAAAGDeletion - Frameshift
PRB4ENSG00000230657ENST00000279575p.G76Rc.226G>ASubstitution - Missense
ENST00000433634p.S148Fc.443C>TSubstitution - Missense
C1orf127ENSG00000175262ENST00000377008p.S557Fc.1670C>TSubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.S220Sc.660C>TSubstitution - coding silent
CLSTN1ENSG00000171603ENST00000377298p.R536Qc.1607G>ASubstitution - Missense
CD93ENSG00000125810ENST00000246006p.P375Lc.1124C>TSubstitution - Missense
PLLPENSG00000102934ENST00000219207p.G48Ec.143G>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.*283*c.848G>ASubstitution - coding silent
WDR45BENSG00000141580ENST00000392325p.N7Kc.21C>ASubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.?c.682-10C>TUnknown
LILRB5ENSG00000105609ENST00000316219p.?c.952+10C>TUnknown
PDZD2ENSG00000133401ENST00000282493p.I142Ic.426C>TSubstitution - coding silent
SEPT10ENSG00000186522ENST00000397712p.S434Fc.1301C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.P73Rc.218C>GSubstitution - Missense
SLC24A2ENSG00000155886ENST00000341998p.D18Nc.52G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.Q833*c.2497C>TSubstitution - Nonsense
L3MBTL4ENSG00000154655ENST00000400105p.L171Sc.512T>CSubstitution - Missense
RAB11FIP4ENSG00000131242ENST00000325874p.?c.894-6C>TUnknown
HECW1ENSG00000002746ENST00000395891p.I141Sc.422T>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.L2055Pc.6164T>CSubstitution - Missense
CFTRENSG00000001626ENST00000003084p.M837Ic.2511G>ASubstitution - Missense
KELENSG00000197993ENST00000355265p.L254Lc.762G>ASubstitution - coding silent
ENST00000292077p.S192Fc.575C>TSubstitution - Missense
FUBP3ENSG00000107164ENST00000319725p.Q391*c.1171C>TSubstitution - Nonsense
ASAP1ENSG00000153317ENST00000357668p.?c.1997-10C>TUnknown
ITGA7ENSG00000135424ENST00000257880p.E247Kc.739G>ASubstitution - Missense
SLC30A3ENSG00000115194ENST00000447008p.R285Qc.854G>ASubstitution - Missense
THADAENSG00000115970ENST00000330266p.L88Lc.262C>TSubstitution - coding silent
ZNF112ENSG00000062370ENST00000536500p.P681Sc.2041C>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.E246Kc.736G>ASubstitution - Missense
MAGENSG00000105695ENST00000361922p.F460Fc.1380C>TSubstitution - coding silent
CCT3ENSG00000163468ENST00000295688p.G356*c.1066G>TSubstitution - Nonsense
PPM1HENSG00000111110ENST00000228705p.P219Sc.655C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.P1778Lc.5333C>TSubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.E1435Vc.4304A>TSubstitution - Missense
STK33ENSG00000130413ENST00000447869p.T79Tc.237C>TSubstitution - coding silent
ENST00000401058p.S256Fc.767C>TSubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.?c.4561-8C>TUnknown
RAD21L1ENSG00000244588ENST00000402452p.S240Fc.719C>TSubstitution - Missense
SLC10A4ENSG00000145248ENST00000273861p.P178Lc.533C>TSubstitution - Missense
SERAC1ENSG00000122335ENST00000367104p.L482Lc.1446C>TSubstitution - coding silent
MVPENSG00000013364ENST00000395353p.D217Nc.649G>ASubstitution - Missense
SH3TC2ENSG00000169247ENST00000515425p.G255Gc.765C>TSubstitution - coding silent
COL5A1ENSG00000130635ENST00000371817p.P1347Sc.4039C>TSubstitution - Missense
CEACAM5ENSG00000105388ENST00000221992p.G48Ec.143G>ASubstitution - Missense
NM_133170.2p.P174Sc.520C>TSubstitution - Missense
CYP2A7ENSG00000198077ENST00000301146p.E448Kc.1342G>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000423239p.L293Lc.879C>TSubstitution - coding silent
CARD14ENSG00000141527ENST00000573882p.K930Kc.2790G>ASubstitution - coding silent
STAC3ENSG00000185482ENST00000332782p.?c.604-9C>TUnknown
MEGF6ENSG00000162591ENST00000356575p.P1508Pc.4524C>TSubstitution - coding silent
CHAC1ENSG00000128965ENST00000446533p.P252Sc.754C>TSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.R380Qc.1139G>ASubstitution - Missense
ENST00000215591p.?c.3324-9C>TUnknown
ENAMENSG00000132464ENST00000396073p.G881Ec.2642G>ASubstitution - Missense
KDSRENSG00000119537ENST00000406396p.R317Rc.951C>TSubstitution - coding silent
NDST4ENSG00000138653ENST00000264363p.I508Ic.1524C>TSubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.S1194Pc.3580T>CSubstitution - Missense
MYL7ENSG00000106631ENST00000223364p.?c.118-6C>TUnknown
ZNF311ENSG00000197935ENST00000377179p.S291Yc.872C>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000446997p.?c.578-8C>TUnknown
SLC4A10ENSG00000144290ENST00000415876p.?c.578-8C>TUnknown
SLPIENSG00000124107ENST00000338380p.G123Gc.369G>ASubstitution - coding silent
PI3ENSG00000124102ENST00000243924p.P89Sc.265C>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.G1142fs*30c.3424_3431delGGGGGCATDeletion - Frameshift
SPATA18ENSG00000163071ENST00000295213p.S459Wc.1376C>GSubstitution - Missense
SPECC1LENSG00000100014ENST00000314328p.L282Lc.844T>CSubstitution - coding silent
SLC4A10ENSG00000144290ENST00000375514p.?c.611-8C>TUnknown
KLHL23ENSG00000213160ENST00000392647p.R215*c.643C>TSubstitution - Nonsense
FASTKD1ENSG00000138399ENST00000453153p.L257Lc.769T>CSubstitution - coding silent
ABCB11ENSG00000073734ENST00000263817p.G253Ec.758G>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.P2684Sc.8050C>TSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.I112Ic.336C>TSubstitution - coding silent
STXBP1ENSG00000136854ENST00000373299p.?c.1030-5C>AUnknown
PRRC2BENSG00000130723ENST00000357304p.?c.1912-6G>AUnknown
PRRC2BENSG00000130723ENST00000357304p.?c.1912-6G>AUnknown
POMT1ENSG00000130714ENST00000372228p.V195Vc.585C>TSubstitution - coding silent
WWC1ENSG00000113645ENST00000265293p.?c.3151-5C>TUnknown
GPRIN1ENSG00000169258ENST00000303991p.P355Sc.1063C>TSubstitution - Missense
ADAMTS6ENSG00000049192ENST00000381055p.R832Qc.2495G>ASubstitution - Missense
C6orf10ENSG00000204296ENST00000447241p.G453Rc.1357G>ASubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.P923Sc.2767C>TSubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.I734Ic.2202C>TSubstitution - coding silent
OR4A5ENSG00000221840ENST00000319760p.F253Fc.759C>TSubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.V1196Ic.3586G>ASubstitution - Missense
ENST00000454161p.L779Lc.2337G>ASubstitution - coding silent
ENST00000333984p.H17Yc.49C>TSubstitution - Missense
OR4A15ENSG00000181958ENST00000314706p.L8Fc.22C>TSubstitution - Missense
OR8J3ENSG00000167822ENST00000301529p.G233Rc.697G>ASubstitution - Missense
OR9Q2ENSG00000186513ENST00000311591p.I77Ic.231C>TSubstitution - coding silent
SMARCC2ENSG00000139613ENST00000394023p.E645Kc.1933G>ASubstitution - Missense
DGKHENSG00000102780ENST00000379274p.?c.2308-3C>TUnknown
CACNA1EENSG00000198216ENST00000367567p.?c.3703-6C>TUnknown
TDRD5ENSG00000162782ENST00000444136p.S640Fc.1919C>TSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.G567Ac.1700G>CSubstitution - Missense
AGBL4ENSG00000186094ENST00000371836p.D14Nc.40G>ASubstitution - Missense
ABCA4ENSG00000198691ENST00000535735p.?c.768+10G>TUnknown
ARHGAP29ENSG00000137962ENST00000370217p.S236Sc.708C>TSubstitution - coding silent
ENST00000294635_v70p.N58Ic.173A>TSubstitution - Missense
HEATR5AENSG00000129493ENST00000404677p.S226Sc.678C>TSubstitution - coding silent
IQCHENSG00000103599ENST00000360277p.F393Fc.1179C>TSubstitution - coding silent
ITGB3ENSG00000259207ENST00000559488p.?c.2302-1G>AUnknown
ABCA8ENSG00000141338ENST00000430352p.G873Ec.2618G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.D1607Nc.4819G>ASubstitution - Missense
CCDC102BENSG00000150636ENST00000584156p.?c.1264-10C>TUnknown
CYP2A7ENSG00000198077ENST00000291764p.E397Kc.1189G>ASubstitution - Missense
SPTLC3ENSG00000172296ENST00000431275p.T22Ic.65C>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.S492Fc.1475C>TSubstitution - Missense
ENST00000263817_v70p.G253Ec.758G>ASubstitution - Missense
TPOENSG00000115705ENST00000337415p.I457Ic.1371C>TSubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.D1612Nc.4834G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.L372Lc.1116G>ASubstitution - coding silent
WDR52ENSG00000206530ENST00000308346p.R386Wc.1156C>TSubstitution - Missense
ACPL2ENSG00000155893ENST00000393007p.R320Rc.960G>ASubstitution - coding silent
FAM149AENSG00000109794ENST00000356371p.S525Fc.1574C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.?c.4735-6C>TUnknown
SYNE1ENSG00000131018ENST00000448038p.S1482Lc.4445C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S1545Lc.4634C>TSubstitution - Missense
ENST00000377325_v70p.F338Fc.1014C>TSubstitution - coding silent
PODXLENSG00000128567ENST00000537928p.M282Ic.846G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.L45Lc.133T>CSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.G528Gc.1584G>ASubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.A1247Ac.3741C>ASubstitution - coding silent
POMT1ENSG00000130714ENST00000354713p.V165Vc.495C>TSubstitution - coding silent
NM_133170.2p.S492Fc.1475C>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.E614Kc.1840G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.L785Lc.2355G>ASubstitution - coding silent
PAGE2ENSG00000234068ENST00000374968p.V29Vc.87C>TSubstitution - coding silent
MAU2ENSG00000129933ENST00000392313p.L502Fc.1504C>TSubstitution - Missense
SLC8A2ENSG00000118160ENST00000236877p.?c.1340+7C>TUnknown
ZDHHC23ENSG00000184307ENST00000330212p.R390Qc.1169G>ASubstitution - Missense
WDR52ENSG00000206530ENST00000393845p.R931Wc.2791C>TSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.S402Nc.1205G>ASubstitution - Missense
ZBTB20ENSG00000181722ENST00000357258p.S329Nc.986G>ASubstitution - Missense
CASRENSG00000036828ENST00000296154p.I777Ic.2331C>TSubstitution - coding silent
ACPL2ENSG00000155893ENST00000286353p.R336Rc.1008G>ASubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.S1437Lc.4310C>TSubstitution - Missense
ENST00000361316p.S1289Lc.3866C>TSubstitution - Missense
FAM149AENSG00000109794ENST00000503432p.S234Fc.701C>TSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000400091p.P399Lc.1196C>TSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.P628Sc.1882C>TSubstitution - Missense
RBFAENSG00000101546ENST00000306735p.S291Sc.873C>TSubstitution - coding silent
APOBEC3GENSG00000239713ENST00000407997p.L108Lc.322C>TSubstitution - coding silent
PAK1IP1ENSG00000111845ENST00000379568p.D26Nc.76G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.G4708Rc.14122G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.G7122Rc.21364G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.Q833*c.2497C>TSubstitution - Nonsense
DSTENSG00000151914ENST00000370765p.Q833*c.2497C>TSubstitution - Nonsense
DSTENSG00000151914ENST00000370769p.Q1159*c.3475C>TSubstitution - Nonsense
OR13C2ENSG00000257019ENST00000542196p.D194Nc.580G>ASubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.G137Ec.410G>ASubstitution - Missense
DSPENSG00000096696ENST00000379802p.G2854Rc.8560G>ASubstitution - Missense
SNAP91ENSG00000065609ENST00000369694p.V616Vc.1848G>ASubstitution - coding silent
SNAP91ENSG00000065609ENST00000439399p.V616Vc.1848G>ASubstitution - coding silent
ACACAENSG00000132142ENST00000360679p.F1300Fc.3900C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.A48Ac.144C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000406316p.A48Ac.144C>TSubstitution - coding silent
NPHS1ENSG00000161270ENST00000378910p.?c.712+8G>AUnknown
SIPA1L3ENSG00000105738ENST00000222345p.P479Lc.1436C>TSubstitution - Missense
TTC14ENSG00000163728ENST00000296015p.D417Ec.1251T>GSubstitution - Missense
TTC14ENSG00000163728ENST00000382584p.D417Ec.1251T>GSubstitution - Missense
ENST00000421549p.S864Ac.2590T>GSubstitution - Missense
SH3TC2ENSG00000169247ENST00000394358p.G140Gc.420C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.G1884Dc.5651G>ASubstitution - Missense
DYRK1BENSG00000105204ENST00000593685p.Q275Rc.824A>GSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.L1284Lc.3852G>ASubstitution - coding silent
RP9ENSG00000164610ENST00000297157p.D172Vc.515A>TSubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.G188Gc.564G>ASubstitution - coding silent
ENST00000305759p.G188Gc.564G>ASubstitution - coding silent
NMUR2ENSG00000132911ENST00000255262p.T203Tc.609C>TSubstitution - coding silent
NMUR2ENSG00000132911ENST00000255262p.Q23Qc.69G>ASubstitution - coding silent
HIST1H2BMENSG00000196374ENST00000359465p.R80Rc.240C>GSubstitution - coding silent
GNL1ENSG00000204590ENST00000376621p.P598Lc.1793C>TSubstitution - Missense
OR2A7ENSG00000243896ENST00000493325p.F11Fc.33C>TSubstitution - coding silent
OR2A7ENSG00000243896ENST00000493325p.F11Fc.33C>TSubstitution - coding silent
ZNF425ENSG00000204947ENST00000378061p.E474Kc.1420G>ASubstitution - Missense
ENST00000315946p.S543Lc.1628C>TSubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.F492Fc.1476C>TSubstitution - coding silent
TANGO6ENSG00000103047ENST00000261778p.P168Sc.502C>TSubstitution - Missense
ENST00000316490_v65p.K2295Kc.6885G>ASubstitution - coding silent
ENST00000316490p.K2247Kc.6741G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.F88Lc.262T>CSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.F115Lc.343T>CSubstitution - Missense
ENST00000316490_v65p.F88Lc.262T>CSubstitution - Missense
ENST00000316490p.S848Fc.2543C>TSubstitution - Missense
PGLSENSG00000130313ENST00000252603p.F142Fc.426C>TSubstitution - coding silent
POU2F2ENSG00000028277ENST00000389341p.S176Fc.527C>TSubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.S339Lc.1016C>TSubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.P664Sc.1990C>TSubstitution - Missense
TRIB3ENSG00000101255ENST00000217233p.L198Lc.594G>TSubstitution - coding silent
PLCB1ENSG00000182621ENST00000338037p.Q548*c.1642C>TSubstitution - Nonsense
PCMTD2ENSG00000203880ENST00000308824p.N11Sc.32A>GSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.R323*c.967C>TSubstitution - Nonsense
IL17RCENSG00000163702ENST00000295981p.F304Fc.912C>TSubstitution - coding silent
CRELD1ENSG00000163703ENST00000326434p.T251fs*8c.750_751delCADeletion - Frameshift
CRELD1ENSG00000163703ENST00000383811p.T251fs*8c.750_751delCADeletion - Frameshift
COL8A1ENSG00000144810ENST00000273342p.G144Ec.431G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.D1782Nc.5344G>ASubstitution - Missense
ANTXR2ENSG00000163297ENST00000307333p.A70Ac.210G>ASubstitution - coding silent
ANTXR2ENSG00000163297ENST00000295465p.A70Ac.210G>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.R1891Cc.5671C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R1891Cc.5671C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G528Gc.1584G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.E681Kc.2041G>ASubstitution - Missense
ZNF582ENSG00000018869ENST00000301310p.T166Ic.497C>TSubstitution - Missense
CD300EENSG00000186407ENST00000426295p.Q148*c.442C>TSubstitution - Nonsense
IL18R1ENSG00000115604ENST00000233957p.?c.625+7G>AUnknown
TRNT1ENSG00000072756ENST00000251607p.N156Sc.467A>GSubstitution - Missense
ACOXLENSG00000153093ENST00000439055p.T255Tc.765G>ASubstitution - coding silent
GOLGA4ENSG00000144674ENST00000361924p.E706Kc.2116G>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.E1723Ec.5169G>ASubstitution - coding silent
GRID2ENSG00000152208ENST00000282020p.E272Kc.814G>ASubstitution - Missense
SLCO4C1ENSG00000173930ENST00000310954p.P278Sc.832C>TSubstitution - Missense
CMTM2ENSG00000140932ENST00000268595p.L108Lc.324C>TSubstitution - coding silent
CNOT1ENSG00000125107ENST00000441024p.T1045Ic.3134C>TSubstitution - Missense
SLC7A6ENSG00000103064ENST00000219343p.S460Pc.1378T>CSubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.D341Nc.1021G>ASubstitution - Missense
ENSG00000198843ENST00000471696p.E56Kc.166G>ASubstitution - Missense
SLC6A6ENSG00000131389ENST00000360861p.T111Tc.333C>TSubstitution - coding silent
CAPN7ENSG00000131375ENST00000253693p.E102Kc.304G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.P2374Sc.7120C>TSubstitution - Missense
ENST00000529122_v68p.G285Gc.855G>ASubstitution - coding silent
PABPC4LENSG00000254535ENST00000529122p.G285Gc.855G>ASubstitution - coding silent
NM_033267.2p.T179Tc.537C>ASubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.G548Ec.1643G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S1475Lc.4424C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S1475Lc.4424C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S1482Lc.4445C>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000322231p.R540Cc.1618C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E5018Kc.15052G>ASubstitution - Missense
GNAT3ENSG00000214415ENST00000398291p.E318Kc.952G>ASubstitution - Missense
GNAT3ENSG00000214415ENST00000398291p.G92Rc.274G>ASubstitution - Missense
GNAT3ENSG00000214415ENST00000398291p.G92Rc.274G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.L45Lc.133T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.L45Lc.133T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.D44Vc.131A>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.D44Vc.131A>TSubstitution - Missense
SLC23A3ENSG00000213901ENST00000455516p.?c.321-7C>TUnknown
SLC23A3ENSG00000213901ENST00000295738p.?c.321-7C>TUnknown
DNERENSG00000187957ENST00000341772p.S409Fc.1226C>TSubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.N220Sc.659A>GSubstitution - Missense
ABTB1ENSG00000114626ENST00000232744p.?c.176-6C>TUnknown
COL6A5ENSG00000172752ENST00000265379p.D2252Nc.6754G>ASubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.L931Lc.2793C>TSubstitution - coding silent
PKDREJENSG00000130943ENST00000253255p.I1176Ic.3528C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.G728Ec.2183G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.G289Ec.866G>ASubstitution - Missense
CAMPENSG00000164047ENST00000576243p.?c.310-8C>TUnknown
MARVELD2ENSG00000152939ENST00000325631p.A478Vc.1433C>TSubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.F278Fc.834C>TSubstitution - coding silent
ADCY2ENSG00000078295ENST00000537121p.F98Fc.294C>TSubstitution - coding silent
MAPK14ENSG00000112062ENST00000229794p.?c.117-33_119del36Unknown
C7orf26ENSG00000146576ENST00000344417p.P275Lc.824C>TSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.V838Mc.2512G>ASubstitution - Missense
AGRNENSG00000188157ENST00000379370p.A1166Vc.3497C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.?c.768+10G>TUnknown
ENST00000249798p.P210Sc.628C>TSubstitution - Missense
HOXB1ENSG00000120094ENST00000239174p.P134Sc.400C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G7739Ec.23216G>ASubstitution - Missense
ENST00000331986p.G3372Ec.10115G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A748Tc.2242G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G5001Gc.15003G>ASubstitution - coding silent
ENST00000331986p.G634Gc.1902G>ASubstitution - coding silent
SPTLC3ENSG00000172296ENST00000399002p.T424Tc.1272C>TSubstitution - coding silent
NM_003319p.E4201Kc.12601G>ASubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.V420Vc.1260C>GSubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.?c.3369-9C>TUnknown
MUC16ENSG00000181143ENST00000397910p.E9804Kc.29410G>ASubstitution - Missense
ENST00000331986p.E5437Kc.16309G>ASubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.E214Kc.640G>ASubstitution - Missense
TUSC5ENSG00000184811ENST00000333813p.L148Lc.444G>ASubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.?c.10972-7C>TUnknown
ZNF729ENSG00000196350ENST00000357491p.E569Dc.1707G>TSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.S219Lc.656C>TSubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.L158Fc.472C>TSubstitution - Missense
SLC7A9ENSG00000021488ENST00000023064p.?c.978-3C>TUnknown
CCDC155ENSG00000161609ENST00000447857p.G466Ec.1397G>ASubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.A79Tc.235G>ASubstitution - Missense
PIGUENSG00000101464ENST00000217446p.Y338Hc.1012T>CSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.M314Ic.942G>ASubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.D320Nc.958G>ASubstitution - Missense
SPATA31A6ENSG00000185775ENST00000332857p.R458Rc.1374G>ASubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000297668p.P760Lc.2279C>TSubstitution - Missense
ATXN7ENSG00000163635ENST00000295900p.P434Sc.1300C>TSubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.V785Vc.2355G>ASubstitution - coding silent
NSRP1ENSG00000126653ENST00000247026p.?c.509-10C>TUnknown
NPLOC4ENSG00000182446ENST00000374747p.P586Lc.1757C>TSubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.?c.1664-6C>TUnknown
DSC3ENSG00000134762ENST00000434452p.?c.1664-6C>TUnknown
DSCAMENSG00000171587ENST00000400454p.N829Nc.2487C>TSubstitution - coding silent
KRTAP10-9ENSG00000221837ENST00000397911p.L43Lc.129G>ASubstitution - coding silent
CSN2ENSG00000135222ENST00000353151p.T122Tc.366G>ASubstitution - coding silent
AFMENSG00000079557ENST00000226355p.P391Sc.1171C>TSubstitution - Missense
KRT28ENSG00000173908ENST00000306658p.G51Gc.153G>ASubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.L1711Lc.5131C>TSubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.L1711Lc.5131C>TSubstitution - coding silent
HTTENSG00000197386ENST00000355072p.?c.7979+6C>TUnknown
PDS5AENSG00000121892ENST00000303538p.P830Sc.2488C>TSubstitution - Missense
ENST00000273600p.?c.12868+1G>AUnknown
CALCRENSG00000004948ENST00000359558p.G186Ec.557G>ASubstitution - Missense
FCARENSG00000186431ENST00000355524p.G189Gc.567G>ASubstitution - coding silent
ENST00000433231p.G189Gc.567G>ASubstitution - coding silent
PEX26ENSG00000215193ENST00000399744p.A259Ac.777C>TSubstitution - coding silent
CHN1ENSG00000128656ENST00000409900p.E203Kc.607G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.I8735Ic.26205C>TSubstitution - coding silent
ENST00000356127p.I8735Ic.26205C>TSubstitution - coding silent
ENSG00000182329ENST00000541917p.H565Yc.1693C>TSubstitution - Missense
CGREF1ENSG00000138028ENST00000260595p.?c.81-6C>TUnknown
GPR113ENSG00000173567ENST00000311519p.T402Tc.1206G>ASubstitution - coding silent
GPR113ENSG00000173567ENST00000333478p.T203Tc.609G>ASubstitution - coding silent
CGREF1ENSG00000138028ENST00000402394p.?c.81-6C>TUnknown
ZPLD1ENSG00000170044ENST00000306176p.S403Fc.1208C>TSubstitution - Missense
GUCA1CENSG00000138472ENST00000261047p.G148Ec.443G>ASubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.D248Nc.742G>ASubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.D248Nc.742G>ASubstitution - Missense
GALNSENSG00000141012ENST00000268695p.P453Sc.1357C>TSubstitution - Missense
FPR1ENSG00000171051ENST00000304748p.W132*c.396G>ASubstitution - Nonsense
LILRB5ENSG00000105609ENST00000450632p.?c.925+10C>TUnknown
OR52M1ENSG00000197790ENST00000360213p.A227Tc.679G>ASubstitution - Missense
CELA2AENSG00000142615ENST00000359621p.?c.640-9C>TUnknown
KIF5AENSG00000155980ENST00000455537p.L861Lc.2583G>ASubstitution - coding silent
RASSF9ENSG00000198774ENST00000361228p.E184Kc.550G>ASubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.P395Sc.1183C>TSubstitution - Missense
SLCO1B7ENSG00000205754ENST00000421593p.S604Fc.1811C>TSubstitution - Missense
LARP4ENSG00000161813ENST00000398473p.S303Sc.909C>TSubstitution - coding silent
KRT84ENSG00000161849ENST00000257951p.?c.1203+4G>AUnknown
ALPK3ENSG00000136383ENST00000258888p.G1364Ec.4091G>ASubstitution - Missense
MTA1ENSG00000182979ENST00000331320p.N294Nc.882C>TSubstitution - coding silent
RPGRIP1ENSG00000092200ENST00000400017p.K1221fs*23c.3657_3660delAAAGDeletion - Frameshift
GLYATL1ENSG00000166840ENST00000300079p.E302Kc.904G>ASubstitution - Missense
PLCH2ENSG00000149527ENST00000378486p.L439Fc.1315C>TSubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.G195Ec.584G>ASubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.F398Fc.1194C>TSubstitution - coding silent
C12orf40ENSG00000180116ENST00000324616p.E253Kc.757G>ASubstitution - Missense
SLC38A1ENSG00000111371ENST00000398637p.?c.482-7C>TUnknown
ATP8A2ENSG00000132932ENST00000381655p.D477Nc.1429G>ASubstitution - Missense
COL2A1ENSG00000139219ENST00000337299p.?c.2311-9C>TUnknown
SELEENSG00000007908ENST00000333360p.S318Nc.953G>ASubstitution - Missense
SELEENSG00000007908ENST00000333360p.F256Fc.768C>TSubstitution - coding silent
FREM2ENSG00000150893ENST00000280481p.?c.8177-10C>TUnknown
C1orf105ENSG00000180999ENST00000367727p.S170Fc.509C>TSubstitution - Missense
KRTAP5-5ENSG00000185940ENST00000399676p.G209Rc.625G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.?c.4882-6C>TUnknown
CACNA1EENSG00000198216ENST00000367570p.?c.4882-6C>TUnknown
TSPAN8ENSG00000127324ENST00000247829p.V229Vc.687C>TSubstitution - coding silent
ENST00000316851_v65p.S683Fc.2048C>TSubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.L844Fc.2530C>TSubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.P57Sc.169C>TSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.K418Kc.1254G>ASubstitution - coding silent
ACSM2AENSG00000183747ENST00000396104p.?c.1099-10C>TUnknown
NEBLENSG00000078114ENST00000417816p.W247*c.740G>ASubstitution - Nonsense
TMEM63CENSG00000165548ENST00000298351p.?c.1449-8C>TUnknown
UNKLENSG00000059145ENST00000389221p.T103Tc.309G>ASubstitution - coding silent
UNKLENSG00000059145ENST00000301712p.T103Tc.309G>ASubstitution - coding silent
ENST00000398860p.A2810Vc.8429C>TSubstitution - Missense
SLC22A25ENSG00000196600ENST00000306494p.S76Fc.227C>TSubstitution - Missense
EHD1ENSG00000110047ENST00000359393p.I254Ic.762C>TSubstitution - coding silent
MEN1ENSG00000133895ENST00000312049p.A325Vc.974C>TSubstitution - Missense
PTPN22ENSG00000134242ENST00000359785p.E382Kc.1144G>ASubstitution - Missense
PTPN22ENSG00000134242ENST00000359785p.L381Lc.1143G>ASubstitution - coding silent
VPS33AENSG00000139719ENST00000267199p.S486Lc.1457C>TSubstitution - Missense
COQ5ENSG00000110871ENST00000288532p.?c.575-3C>TUnknown
CD101ENSG00000134256ENST00000369470p.P442Lc.1325C>TSubstitution - Missense
OTUD7BENSG00000163113ENST00000369135p.I89Ic.267C>TSubstitution - coding silent
ILDR2ENSG00000143195ENST00000271417p.?c.1885-9C>TUnknown
PSMD4ENSG00000159352ENST00000368884p.F334Fc.1002C>TSubstitution - coding silent
AGBL4ENSG00000186094ENST00000371839p.D14Nc.40G>ASubstitution - Missense
TTC39AENSG00000085831ENST00000262675p.E116Kc.346G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.E1490Kc.4468G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.E1442Kc.4324G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.E1520Kc.4558G>ASubstitution - Missense
ENST00000322367p.E977Kc.2929G>ASubstitution - Missense
ARNTL2ENSG00000029153ENST00000266503p.H264Yc.790C>TSubstitution - Missense
AVPR1BENSG00000198049ENST00000367126p.P349Pc.1047C>GSubstitution - coding silent
CYP19A1ENSG00000137869ENST00000396402p.E489Kc.1465G>ASubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.I939Ic.2817C>TSubstitution - coding silent
OR2M3ENSG00000228198ENST00000456743p.G306Ec.917G>ASubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.P133Sc.397C>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.P195Sc.583C>TSubstitution - Missense
SERPINA10ENSG00000140093ENST00000393096p.L433Mc.1297C>ASubstitution - Missense
IQCHENSG00000103599ENST00000335894p.F732Fc.2196C>TSubstitution - coding silent
ENST00000319474p.L12Lc.34C>TSubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.E1536Ec.4608G>ASubstitution - coding silent
DYRK1BENSG00000105204ENST00000348817p.Q275Rc.824A>GSubstitution - Missense
ITKENSG00000113263ENST00000422843p.R19Kc.56G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.S1194Pc.3580T>CSubstitution - Missense
NM_006904p.V420Vc.1260C>GSubstitution - coding silent
CLIC2ENSG00000155962ENST00000369449p.R201Cc.601C>TSubstitution - Missense
ENST00000389046p.L277Lc.831C>TSubstitution - coding silent
ADAM28ENSG00000042980ENST00000265769p.D470Nc.1408G>ASubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.E505Kc.1513G>ASubstitution - Missense
RASA3ENSG00000185989ENST00000334062p.R371*c.1111C>TSubstitution - Nonsense
XM_371214.3p.L286Fc.856C>TSubstitution - Missense
RNF41ENSG00000181852ENST00000345093p.T264Tc.792T>CSubstitution - coding silent
GEMIN5ENSG00000082516ENST00000285873p.S1451fs*2c.4351_4352delAGDeletion - Frameshift
TRIM37ENSG00000108395ENST00000262294p.A895Ac.2685C>TSubstitution - coding silent
XM_374491.1p.P452Sc.1354C>TSubstitution - Missense
COPS7BENSG00000144524ENST00000410024p.P7Lc.20C>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.I141Sc.422T>GSubstitution - Missense
XM_209918.4p.S543Lc.1628C>TSubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.L551Vc.1651T>GSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.L389Lc.1167G>TSubstitution - coding silent
MYO1AENSG00000166866ENST00000300119p.R845Rc.2535G>ASubstitution - coding silent
PTPRCENSG00000081237ENST00000442510p.E228Kc.682G>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.G813Rc.2437G>ASubstitution - Missense
XM_372532.2p.K383Qc.1147A>CSubstitution - Missense
XM_291344.4p.R339Cc.1015C>TSubstitution - Missense
ENST00000373468p.S1200Sc.3600C>TSubstitution - coding silent
SLC30A8ENSG00000164756ENST00000456015p.F82Fc.246C>TSubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.G195Ec.584G>ASubstitution - Missense
CCT2ENSG00000166226ENST00000299300p.G129Gc.387T>CSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.I1964Ic.5892C>TSubstitution - coding silent
PTPN12ENSG00000127947ENST00000248594p.?c.940-10C>TUnknown
KIF5AENSG00000155980ENST00000455537p.R544Qc.1631G>ASubstitution - Missense
TRIM64BENSG00000189253ENST00000329862p.F367Fc.1101C>TSubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.I348Ic.1044C>TSubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.I348Ic.1044C>TSubstitution - coding silent
JAKMIP1ENSG00000152969ENST00000409021p.E620Kc.1858G>ASubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.E614Kc.1840G>ASubstitution - Missense
VASPENSG00000125753ENST00000245932p.I66Ic.198C>TSubstitution - coding silent
IL12AENSG00000168811ENST00000305579p.G67Ec.200G>ASubstitution - Missense
KRT4ENSG00000170477ENST00000293774p.I343Ic.1029C>TSubstitution - coding silent
TESPA1ENSG00000135426ENST00000316577p.S128Sc.384C>ASubstitution - coding silent
DGKHENSG00000102780ENST00000337343p.?c.2716-3C>TUnknown
CMKLR1ENSG00000174600ENST00000312143p.M311Ic.933G>ASubstitution - Missense
RFX4ENSG00000111783ENST00000392842p.?c.834-10C>TUnknown
HECTD4ENSG00000173064ENST00000377560p.L2489Fc.7465C>TSubstitution - Missense
OXGR1ENSG00000165621ENST00000298440p.I222Ic.666C>TSubstitution - coding silent
FRRS1ENSG00000156869ENST00000287474p.P509Sc.1525C>TSubstitution - Missense
UGGT2ENSG00000102595ENST00000376747p.Q581Kc.1741C>ASubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.L27Fc.79C>TSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.P652Sc.1954C>TSubstitution - Missense
OR8B4ENSG00000198657ENST00000356130p.G160Rc.478G>ASubstitution - Missense
SYT13ENSG00000019505ENST00000020926p.?c.846+8A>GUnknown


COSMIC

76 mutations reported
34 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
PRKCIENSG00000163558ENST00000295797p.P118Lc.353C>TSubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.P118Lc.353C>TSubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.L351Fc.1051C>TSubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.M1Ic.3G>ASubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.F82Fc.246C>TSubstitution - coding silent
COPS7BENSG00000144524ENST00000410024p.P7Lc.20C>TSubstitution - Missense
CCT2ENSG00000166226ENST00000299300p.G129Gc.387T>CSubstitution - coding silent
GEMIN5ENSG00000082516ENST00000285873p.S1451fs*2c.4351_4352delAGDeletion - Frameshift
RNF41ENSG00000181852ENST00000345093p.T264Tc.792T>CSubstitution - coding silent
CARD14ENSG00000141527ENST00000573882p.K930Kc.2790G>ASubstitution - coding silent
NM_014422.1p.M394Ic.1182G>ASubstitution - Missense
NM_133170.2p.S492Fc.1475C>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.E614Kc.1840G>ASubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.E614Kc.1840G>ASubstitution - Missense
NM_014422.1p.M394Ic.1182G>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.G813Rc.2437G>ASubstitution - Missense
XM_371214.3p.L286Fc.856C>TSubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.E1536Ec.4608G>ASubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.E1536Ec.4608G>ASubstitution - coding silent
MYO1AENSG00000166866ENST00000300119p.R845Rc.2535G>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.I141Sc.422T>GSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.I141Sc.422T>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.E4082Ec.12246G>ASubstitution - coding silent
CLIC2ENSG00000155962ENST00000369449p.R201Cc.601C>TSubstitution - Missense
TRIM37ENSG00000108395ENST00000262294p.A895Ac.2685C>TSubstitution - coding silent
ADAM28ENSG00000042980ENST00000265769p.G562Gc.1686G>ASubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.S1194Pc.3580T>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.S1194Pc.3580T>CSubstitution - Missense
ENST00000389046p.L277Lc.831C>TSubstitution - coding silent
SATB1ENSG00000182568ENST00000338745p.E505Kc.1513G>ASubstitution - Missense
RASA3ENSG00000185989ENST00000334062p.R371*c.1111C>TSubstitution - Nonsense
ADAM28ENSG00000042980ENST00000265769p.D470Nc.1408G>ASubstitution - Missense
ENST00000373468p.S1200Sc.3600C>TSubstitution - coding silent
NM_006904p.V420Vc.1260C>GSubstitution - coding silent
NM_006904p.V420Vc.1260C>GSubstitution - coding silent
NM_006904p.V420Vc.1260C>GSubstitution - coding silent
NM_006904p.V420Vc.1260C>GSubstitution - coding silent
XM_373349.2p.L143Lc.427C>TSubstitution - coding silent
PTPRCENSG00000081237ENST00000442510p.E228Kc.682G>ASubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.Q275Rc.824A>GSubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.Q275Rc.824A>GSubstitution - Missense
XM_291344.4p.R339Cc.1015C>TSubstitution - Missense
ITKENSG00000113263ENST00000422843p.R19Kc.56G>ASubstitution - Missense
ITKENSG00000113263ENST00000422843p.R19Kc.56G>ASubstitution - Missense
XM_374491.1p.P452Sc.1354C>TSubstitution - Missense
XM_372532.2p.K383Qc.1147A>CSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.L389Lc.1167G>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.R838Qc.2513G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.R838Qc.2513G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.G195Ec.584G>ASubstitution - Missense
PLAGL2ENSG00000126003ENST00000246229p.?c.1-2C>TUnknown
NM_033267.2p.T179>Ic.536_537CC>TAComplex - compound substitution
XM_209918.4p.S543Lc.1628C>TSubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.L551Vc.1651T>GSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.S236Sc.708C>TSubstitution - coding silent
AK5ENSG00000154027ENST00000354567p.L444Lc.1332G>ASubstitution - coding silent
AK5ENSG00000154027ENST00000354567p.L444Lc.1332G>ASubstitution - coding silent
THADAENSG00000115970ENST00000405975p.L378Lc.1132C>TSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.G1757Gc.5271C>TSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.G1757Gc.5271C>TSubstitution - coding silent
STK33ENSG00000130413ENST00000447869p.T79Tc.237C>TSubstitution - coding silent
STK33ENSG00000130413ENST00000447869p.T79Tc.237C>TSubstitution - coding silent
SNTB1ENSG00000172164ENST00000395601p.R401Qc.1202G>ASubstitution - Missense
NM_020856.1p.S173Sc.519C>TSubstitution - coding silent
PTPN22ENSG00000134242ENST00000359785p.E382>Kc.1143_1144GG>AAComplex - compound substitution
MAPK14ENSG00000112062ENST00000229795p.?c.246+-126delAATGGTGGGTTTTTTCCCTTTTTTCTCCTTAGTGCTUnknown
MAPK14ENSG00000112062ENST00000229795p.?c.246+-126delAATGGTGGGTTTTTTCCCTTTTTTCTCCTTAGTGCTUnknown
CD40ENSG00000101017ENST00000372285p.G266Dc.797G>ASubstitution - Missense
DHX30ENSG00000132153ENST00000445061p.K760Kc.2280G>ASubstitution - coding silent
TPOENSG00000115705ENST00000345913p.I457Ic.1371C>TSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.G1364Ec.4091G>ASubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.G1364Ec.4091G>ASubstitution - Missense
WNT6ENSG00000115596ENST00000233948p.G307Sc.919G>ASubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.S1693Sc.5079C>TSubstitution - coding silent
CDC42BPBENSG00000198752ENST00000361246p.S1693Sc.5079C>TSubstitution - coding silent
NM_206943.1p.R649*c.1945C>TSubstitution - Nonsense