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NB(TU)1-10 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

915 mutations reported
339 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
BTBD11ENSG00000151136ENST00000280758p.?c.2841-6G>AUnknown
CSPG4ENSG00000173546ENST00000308508p.D187Nc.559G>ASubstitution - Missense
LMAN1LENSG00000140506ENST00000309664p.P220Sc.658C>TSubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.T442Tc.1326C>TSubstitution - coding silent
NEO1ENSG00000067141ENST00000261908p.R1192Cc.3574C>TSubstitution - Missense
OR6C4ENSG00000179626ENST00000394256p.F166Cc.497T>GSubstitution - Missense
TLDC1ENSG00000140950ENST00000343629p.Q163Qc.489G>ASubstitution - coding silent
FAIM3ENSG00000162894ENST00000367091p.P358Lc.1073C>TSubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.H439Hc.1317C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.F113Lc.337T>CSubstitution - Missense
CAPN1ENSG00000014216ENST00000279247p.G220Rc.658G>ASubstitution - Missense
FAM154AENSG00000155875ENST00000380534p.E39Kc.115G>ASubstitution - Missense
RPE65ENSG00000116745ENST00000262340p.D167Dc.501T>CSubstitution - coding silent
SLIT1ENSG00000187122ENST00000266058p.D1210Nc.3628G>ASubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.R615Hc.1844G>ASubstitution - Missense
NR0B2ENSG00000131910ENST00000254227p.R216Hc.647G>ASubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.R281Rc.843A>GSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.R1578Qc.4733G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.N3167Nc.9501T>CSubstitution - coding silent
ACBD5ENSG00000107897ENST00000375905p.N186fs*29c.555delGDeletion - Frameshift
TTLL10ENSG00000162571ENST00000379288p.P41Hc.122C>ASubstitution - Missense
IVNS1ABPENSG00000116679ENST00000367498p.V73Ic.217G>ASubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.M991Ic.2973G>TSubstitution - Missense
APIPENSG00000149089ENST00000278359p.A141Gc.422C>GSubstitution - Missense
DFFAENSG00000160049ENST00000377038p.E202Ec.606G>ASubstitution - coding silent
NAT10ENSG00000135372ENST00000257829p.?c.915-9G>TUnknown
TTLL10ENSG00000162571ENST00000379290p.P114Hc.341C>ASubstitution - Missense
BBOX1ENSG00000129151ENST00000263182p.E119Ec.357G>ASubstitution - coding silent
ATMENSG00000149311ENST00000278616p.R451Hc.1352G>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.R451Hc.1352G>ASubstitution - Missense
KBTBD3ENSG00000182359ENST00000526793p.S574Tc.1721G>CSubstitution - Missense
LRRC23ENSG00000010626ENST00000323702p.N198Sc.593A>GSubstitution - Missense
LDHAENSG00000134333ENST00000540430p.?c.797+9T>AUnknown
NUCB2ENSG00000070081ENST00000529010p.Y54*c.162T>ASubstitution - Nonsense
FAM20BENSG00000116199ENST00000263733p.G394Gc.1182G>CSubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367662p.R230Tc.689G>CSubstitution - Missense
UHMK1ENSG00000152332ENST00000489294p.D346Dc.1038T>CSubstitution - coding silent
MEGF6ENSG00000162591ENST00000356575p.T575Pc.1723A>CSubstitution - Missense
FNDC5ENSG00000160097ENST00000373471p.T24Tc.72G>TSubstitution - coding silent
COL16A1ENSG00000084636ENST00000373672p.Y1361Yc.4083T>CSubstitution - coding silent
RNF17ENSG00000132972ENST00000255324p.?c.4162-6T>AUnknown
CENPJENSG00000151849ENST00000381884p.M181Ic.543G>TSubstitution - Missense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.M96Ic.288G>ASubstitution - Missense
SEMA4GENSG00000095539ENST00000210633p.R124Qc.371G>ASubstitution - Missense
CWF19L1ENSG00000095485ENST00000354105p.?c.289+8G>TUnknown
GPAMENSG00000119927ENST00000348367p.T605Pc.1813A>CSubstitution - Missense
NR2C1ENSG00000120798ENST00000333003p.R214Hc.641G>ASubstitution - Missense
NR2C1ENSG00000120798ENST00000330677p.R214Hc.641G>ASubstitution - Missense
ENST00000251757p.E2Ac.5A>CSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.A2081Vc.6242C>TSubstitution - Missense
NLRP14ENSG00000158077ENST00000299481p.C135fs*14c.399_400insTInsertion - Frameshift
OR10W1ENSG00000172772ENST00000395079p.F159Cc.476T>GSubstitution - Missense
NXF1ENSG00000162231ENST00000294172p.?c.1178+4A>TUnknown
TUT1ENSG00000149016ENST00000278279p.L436Lc.1308G>ASubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.L1077Lc.3231C>ASubstitution - coding silent
RBM23ENSG00000100461ENST00000359890p.?c.1317-6C>GUnknown
MTA1ENSG00000182979ENST00000331320p.V376Gc.1127T>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.K1827Kc.5481G>ASubstitution - coding silent
DPYSL4ENSG00000151640ENST00000338492p.?c.969-7T>CUnknown
OLFML1ENSG00000183801ENST00000329293p.R106Qc.317G>ASubstitution - Missense
NM_001380.2p.T1587Tc.4761G>ASubstitution - coding silent
KLHL25ENSG00000183655ENST00000337975p.H455Yc.1363C>TSubstitution - Missense
AENENSG00000181026ENST00000379231p.Q317*c.949C>TSubstitution - Nonsense
OLFML1ENSG00000183801ENST00000329293p.S320Sc.960A>GSubstitution - coding silent
ARAP1ENSG00000186635ENST00000393609p.L1292Lc.3876G>ASubstitution - coding silent
ARAP1ENSG00000186635ENST00000334211p.L1047Lc.3141G>ASubstitution - coding silent
CACNB3ENSG00000167535ENST00000301050p.R397Qc.1190G>ASubstitution - Missense
CACNB3ENSG00000167535ENST00000536187p.R396Qc.1187G>ASubstitution - Missense
BIN2ENSG00000110934ENST00000267012p.S256delSc.768_770delCAGDeletion - In frame
SLC4A8ENSG00000050438ENST00000453097p.P55Pc.165G>CSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000358657p.P82Pc.246G>CSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000394856p.P2Pc.6G>CSubstitution - coding silent
MAP10ENSG00000212916ENST00000418460p.D1033Gc.3098A>GSubstitution - Missense
PEX10ENSG00000157911ENST00000288774p.L295Lc.883C>TSubstitution - coding silent
CDK4ENSG00000135446ENST00000257904p.G45Dc.134G>ASubstitution - Missense
NM_032496.1p.P286Tc.856C>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.I981Vc.2941A>GSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.I981Vc.2941A>GSubstitution - Missense
ESAMENSG00000149564ENST00000278927p.D120Gc.359A>GSubstitution - Missense
SLC16A12ENSG00000152779ENST00000341233p.L193Lc.579G>ASubstitution - coding silent
CAPN8ENSG00000203697ENST00000430824p.A86Ac.258C>TSubstitution - coding silent
ENSG00000150076ENST00000302316p.L578Lc.1734G>CSubstitution - coding silent
ENST00000409172p.R193Hc.578G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.I2631Tc.7892T>CSubstitution - Missense
ENST00000356127p.I2677Tc.8030T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I2631Tc.7892T>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.I2677Tc.8030T>CSubstitution - Missense
EFCAB13ENSG00000178852ENST00000331493p.A453Vc.1358C>TSubstitution - Missense
GGT6ENSG00000167741ENST00000301395p.Q413Rc.1238A>GSubstitution - Missense
GGT6ENSG00000167741ENST00000301395p.P7Lc.20C>TSubstitution - Missense
CRHR1ENSG00000120088ENST00000314537p.R225Qc.674G>ASubstitution - Missense
RICTORENSG00000164327ENST00000296782p.R873Hc.2618G>ASubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.Y733Cc.2198A>GSubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.H910Nc.2728C>ASubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.H910Nc.2728C>ASubstitution - Missense
ENST00000360678p.H225Nc.673C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.T865Rc.2594C>GSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.R1348Rc.4042A>CSubstitution - coding silent
COL4A2ENSG00000134871ENST00000360467p.G684Ac.2051G>CSubstitution - Missense
TMEM255BENSG00000184497ENST00000375353p.G149Sc.445G>ASubstitution - Missense
CLMNENSG00000165959ENST00000298912p.L816Lc.2448G>TSubstitution - coding silent
TLE3ENSG00000140332ENST00000317509p.Q615Qc.1845G>ASubstitution - coding silent
SLC24A4ENSG00000140090ENST00000298877p.I198Tc.593T>CSubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.S850Sc.2550T>CSubstitution - coding silent
BCL10ENSG00000142867ENST00000370580p.T162Mc.485C>TSubstitution - Missense
ELTD1ENSG00000162618ENST00000370742p.?c.877+4G>AUnknown
C1orf173ENSG00000178965ENST00000326665p.?c.244-6G>AUnknown
EXOC5ENSG00000070367ENST00000413566p.D299Nc.895G>ASubstitution - Missense
LIN28AENSG00000131914ENST00000326279p.A65Ac.195G>TSubstitution - coding silent
OR14K1ENSG00000153230ENST00000283225p.H63Yc.187C>TSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.H521Rc.1562A>GSubstitution - Missense
TMEM183AENSG00000163444ENST00000367242p.K56Mc.167A>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000399232p.V397Vc.1191G>ASubstitution - coding silent
MDGA2ENSG00000139915ENST00000357362p.V99Vc.297G>ASubstitution - coding silent
ABHD12BENSG00000131969ENST00000337334p.L44Lc.132C>TSubstitution - coding silent
DDX11ENSG00000013573ENST00000407793p.A381Ac.1143G>ASubstitution - coding silent
ENSG00000258790ENST00000557565p.R515Hc.1544G>ASubstitution - Missense
PCSK9ENSG00000169174ENST00000302118p.P404Pc.1212G>ASubstitution - coding silent
TTC39AENSG00000085831ENST00000262675p.P154Lc.461C>TSubstitution - Missense
TTC39AENSG00000085831ENST00000262676p.P213Lc.638C>TSubstitution - Missense
CKMT1BENSG00000237289ENST00000300283p.R325Wc.973C>TSubstitution - Missense
SERINC4ENSG00000184716ENST00000249714p.R41Cc.121C>TSubstitution - Missense
TMEM87AENSG00000103978ENST00000307216p.P11Sc.31C>TSubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.P963Pc.2889A>GSubstitution - coding silent
ENST00000341288p.M620Tc.1859T>CSubstitution - Missense
NASPENSG00000132780ENST00000350030p.M618Tc.1853T>CSubstitution - Missense
SETDB1ENSG00000143379ENST00000368962p.?c.448-9T>AUnknown
APH1AENSG00000117362ENST00000360244p.S196Ic.587G>TSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.D271Nc.811G>ASubstitution - Missense
NECAP2ENSG00000157191ENST00000337132p.P202Sc.604C>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.T938Tc.2814C>GSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.L519Lc.1557G>ASubstitution - coding silent
MIIPENSG00000116691ENST00000235332p.R206Wc.616C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R386Qc.1157G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.R1228Qc.3683G>ASubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.E1408Kc.4222G>ASubstitution - Missense
FBXW8ENSG00000174989ENST00000309909p.?c.588+1_588+7delgtgggcaUnknown
CTSWENSG00000172543ENST00000307886p.?c.539-10C>TUnknown
DNHD1ENSG00000179532ENST00000254579p.G972Sc.2914G>ASubstitution - Missense
PALD1ENSG00000107719ENST00000263563p.H31Hc.93C>TSubstitution - coding silent
PALD1ENSG00000107719ENST00000263563p.L744Lc.2232G>CSubstitution - coding silent
JDP2ENSG00000140044ENST00000419727p.P9Ac.25C>GSubstitution - Missense
TTLL5ENSG00000119685ENST00000298832p.E846Kc.2536G>ASubstitution - Missense
DPF3ENSG00000205683ENST00000541685p.L118Lc.354G>TSubstitution - coding silent
ENST00000398816p.L117Lc.351G>TSubstitution - coding silent
ENST00000540281p.L118Lc.354G>TSubstitution - coding silent
TAS2R3ENSG00000127362ENST00000247879p.W121Cc.363G>CSubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.L401Lc.1203G>ASubstitution - coding silent
CYP3A4ENSG00000160868ENST00000336411p.P218Rc.653C>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.L853Lc.2559G>ASubstitution - coding silent
KDM7AENSG00000006459ENST00000397560p.S714Sc.2142T>CSubstitution - coding silent
NISCHENSG00000010322ENST00000345716p.A1028Ac.3084G>ASubstitution - coding silent
RNF144BENSG00000137393ENST00000259939p.S38Pc.112T>CSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.M13Vc.37A>GSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.T1959Tc.5877A>TSubstitution - coding silent
STAC2ENSG00000141750ENST00000333461p.R288Wc.862C>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.A1424Ec.4271C>ASubstitution - Missense
KRT33BENSG00000131738ENST00000251646p.T170Tc.510C>TSubstitution - coding silent
IFNAR2ENSG00000159110ENST00000404220p.P155Lc.464C>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.?c.2319+5A>GUnknown
GSG2ENSG00000177602ENST00000325418p.W436*c.1307G>ASubstitution - Nonsense
GSG2ENSG00000177602ENST00000325418p.W436*c.1307G>ASubstitution - Nonsense
BBS2ENSG00000125124ENST00000245157p.A364Gc.1091C>GSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.C1095Cc.3285C>TSubstitution - coding silent
ZNF423ENSG00000102935ENST00000561648p.C1095Cc.3285C>TSubstitution - coding silent
FAM178BENSG00000168754ENST00000417561p.N377Kc.1131C>ASubstitution - Missense
RPIAENSG00000153574ENST00000283646p.?c.527+2T>GUnknown
POLR1AENSG00000068654ENST00000263857p.I1219Ic.3657C>TSubstitution - coding silent
COL6A2ENSG00000142173ENST00000300527p.A410Ac.1230C>TSubstitution - coding silent
ADARB1ENSG00000197381ENST00000360697p.R510Ic.1529G>TSubstitution - Missense
SPC24ENSG00000161888ENST00000423327p.E196Dc.588G>TSubstitution - Missense
IGSF5ENSG00000183067ENST00000380588p.A224Tc.670G>ASubstitution - Missense
ENST00000380102_v68p.P258Pc.774A>GSubstitution - coding silent
KRTAP10-7ENSG00000205441ENST00000380102p.P258Pc.774A>GSubstitution - coding silent
ENST00000436173p.G979Gc.2937C>TSubstitution - coding silent
FSCN2ENSG00000186765ENST00000334850p.T25fs*120c.72delGDeletion - Frameshift
SMCHD1ENSG00000101596ENST00000320876p.P1407Ac.4219C>GSubstitution - Missense
NSRP1ENSG00000126653ENST00000247026p.D436Ec.1308T>GSubstitution - Missense
AATKENSG00000181409ENST00000326724p.S40Sc.120C>TSubstitution - coding silent
RPTORENSG00000141564ENST00000306801p.Y1293Yc.3879C>TSubstitution - coding silent
CARD14ENSG00000141527ENST00000573882p.R720Rc.2160C>TSubstitution - coding silent
DDX42ENSG00000198231ENST00000578681p.S907_S914delSKMDKVDSc.2706_2729del24Deletion - In frame
DDX42ENSG00000198231ENST00000578681p.K903Kc.2709A>GSubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.D339Vc.1016A>TSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.D339Vc.1016A>TSubstitution - Missense
OTUD6BENSG00000155100ENST00000285420p.P292Pc.876A>TSubstitution - coding silent
ESRP1ENSG00000104413ENST00000433389p.S174Cc.521C>GSubstitution - Missense
ESRP1ENSG00000104413ENST00000358397p.S174Cc.521C>GSubstitution - Missense
CADPSENSG00000163618ENST00000283269p.V1195Mc.3583G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.P959Rc.2876C>GSubstitution - Missense
CADPSENSG00000163618ENST00000383710p.V1234Mc.3700G>ASubstitution - Missense
UHRF2ENSG00000147854ENST00000276893p.A468Ac.1404A>CSubstitution - coding silent
STRIP2ENSG00000128578ENST00000249344p.T90Ic.269C>TSubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.T482Mc.1445C>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.V799Vc.2397G>CSubstitution - coding silent
SPATA2ENSG00000158480ENST00000289431p.V95Mc.283G>ASubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.P319Lc.956C>TSubstitution - Missense
SS18L1ENSG00000184402ENST00000421564p.Y355Yc.1065C>TSubstitution - coding silent
SS18L1ENSG00000184402ENST00000370848p.Y358Yc.1074C>TSubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.E232Ec.696A>GSubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.A496Sc.1486G>TSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.P446Pc.1338G>CSubstitution - coding silent
RPA1ENSG00000132383ENST00000254719p.R210Cc.628C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.Q1582_D1583delQDc.4744_4749delCAGGACDeletion - In frame
MUC16ENSG00000181143ENST00000397910p.T10556Kc.31667C>ASubstitution - Missense
ENST00000331986p.T6189Kc.18566C>ASubstitution - Missense
FANCCENSG00000158169ENST00000289081p.R270Gc.808A>GSubstitution - Missense
FGF22ENSG00000070388ENST00000215530p.M139Tc.416T>CSubstitution - Missense
AGPAT5ENSG00000155189ENST00000285518p.V57Vc.171C>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.D2388Dc.7164T>CSubstitution - coding silent
CRHR2ENSG00000106113ENST00000348438p.?c.999-8G>AUnknown
CRHR2ENSG00000106113ENST00000341843p.?c.876-8G>AUnknown
PCLOENSG00000186472ENST00000333891p.A522Sc.1564G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G1161Rc.3481G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.W2646Rc.7936T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S8382Sc.25146C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S8382Sc.25146C>TSubstitution - coding silent
DROSHAENSG00000113360ENST00000511367p.P356Lc.1067C>TSubstitution - Missense
LRRC14BENSG00000185028ENST00000328278p.E429Kc.1285G>ASubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.W4930Gc.14788T>GSubstitution - Missense
ENST00000330166p.W4873Gc.14617T>GSubstitution - Missense
SLC9A9ENSG00000181804ENST00000316549p.R6Tc.17G>CSubstitution - Missense
TIPARPENSG00000163659ENST00000295924p.Q26Qc.78A>GSubstitution - coding silent
SIAH2ENSG00000181788ENST00000312960p.L267Lc.799T>CSubstitution - coding silent
KATNB1ENSG00000140854ENST00000379661p.?c.390+10C>TUnknown
DLEC1ENSG00000008226ENST00000308059p.A461Vc.1382C>TSubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.A461Vc.1382C>TSubstitution - Missense
SUSD5ENSG00000173705ENST00000309558p.P245Sc.733C>TSubstitution - Missense
ZBTB47ENSG00000114853ENST00000232974p.R387Hc.1160G>ASubstitution - Missense
ULK4ENSG00000168038ENST00000301831p.?c.2010+3A>TUnknown
OSBPL10ENSG00000144645ENST00000396556p.?c.457+1G>TUnknown
RANBP2ENSG00000153201ENST00000283195p.F1194Lc.3582C>ASubstitution - Missense
SSTR2ENSG00000180616ENST00000357585p.Y71Cc.212A>GSubstitution - Missense
ENST00000316893p.V2030Ic.6088G>ASubstitution - Missense
NM_203407.1p.N436Kc.1308C>GSubstitution - Missense
ZSCAN5DENSG00000267908ENST00000600684p.V263Gc.788T>GSubstitution - Missense
C8orf4ENSG00000176907ENST00000315792p.S15Lc.44C>TSubstitution - Missense
NM_006904p.H993Hc.2979C>TSubstitution - coding silent
FAM47BENSG00000189132ENST00000329357p.L147Lc.441A>GSubstitution - coding silent
DUSP26ENSG00000133878ENST00000256261p.G155Gc.465C>TSubstitution - coding silent
SLC9B1ENSG00000164037ENST00000296422p.D259Nc.775G>ASubstitution - Missense
GAKENSG00000178950ENST00000314167p.S785Sc.2355C>TSubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.I285Vc.853A>GSubstitution - Missense
SU_EPHA6p.I191Vc.571A>GSubstitution - Missense
ENST00000338994p.I191Vc.571A>GSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.I1646Vc.4936A>GSubstitution - Missense
EMCNENSG00000164035ENST00000296420p.?c.376+4A>GUnknown
DCBLD2ENSG00000057019ENST00000326840p.G162Sc.484G>ASubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.K133Kc.399A>GSubstitution - coding silent
PRPF31ENSG00000105618ENST00000321030p.Q36Hc.108G>CSubstitution - Missense
PRPF31ENSG00000105618ENST00000321030p.E37*c.109G>TSubstitution - Nonsense
GALNSENSG00000141012ENST00000268695p.F160Lc.478T>CSubstitution - Missense
EFR3BENSG00000084710ENST00000403714p.?c.1561-5C>TUnknown
EFR3BENSG00000084710ENST00000264719p.?c.1117-5C>TUnknown
TP53I3ENSG00000115129ENST00000413037p.K171Nc.513G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.K6129Nc.18387A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.F27609Lc.82825T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.F21237Lc.63709T>CSubstitution - Missense
NM_003319p.I6246Tc.18737T>CSubstitution - Missense
ENST00000356127p.F27607Lc.82819T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.F21304Lc.63910T>CSubstitution - Missense
NM_003319p.F21112Lc.63334T>CSubstitution - Missense
NM_003319p.R22993Qc.68978G>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.Q277Kc.829C>ASubstitution - Missense
SIGLEC15ENSG00000197046ENST00000389474p.V175Mc.523G>ASubstitution - Missense
ZBTB14ENSG00000198081ENST00000357006p.G206Ac.617G>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.Q1641Qc.4923G>ASubstitution - coding silent
PLECENSG00000178209ENST00000345136p.Q1504Qc.4512G>ASubstitution - coding silent
ARPC1BENSG00000130429ENST00000252725p.E50Ec.150G>ASubstitution - coding silent
DLX5ENSG00000105880ENST00000222598p.A93Vc.278C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.Q1482Qc.4446G>ASubstitution - coding silent
PUF60ENSG00000179950ENST00000526683p.A24_A25delAAc.69_74delGGCGGCDeletion - In frame
MROH6ENSG00000204839ENST00000398882p.H427Dc.1279C>GSubstitution - Missense
MROH6ENSG00000204839ENST00000398882p.H427Dc.1279C>GSubstitution - Missense
ENST00000349653p.T766Mc.2297C>TSubstitution - Missense
APOL3ENSG00000128284ENST00000349314p.I339Nc.1016T>ASubstitution - Missense
ZCCHC9ENSG00000131732ENST00000380199p.E228Ac.683A>CSubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.K347Nc.1041G>TSubstitution - Missense
SRFBP1ENSG00000151304ENST00000339397p.Q168Kc.502C>ASubstitution - Missense
LNPEPENSG00000113441ENST00000231368p.E249Kc.745G>ASubstitution - Missense
KIAA1430ENSG00000164323ENST00000458385p.A448Ac.1344C>TSubstitution - coding silent
ENST00000319822p.?c.2775-5C>TUnknown
MAP9ENSG00000164114ENST00000311277p.S128Pc.382T>CSubstitution - Missense
ARGFXENSG00000186103ENST00000334384p.M309Lc.925A>TSubstitution - Missense
GRAMD1CENSG00000178075ENST00000358160p.K323Nc.969A>TSubstitution - Missense
ZDHHC23ENSG00000184307ENST00000330212p.D53Hc.157G>CSubstitution - Missense
ABHD10ENSG00000144827ENST00000273359p.A285Tc.853G>ASubstitution - Missense
MEIS3ENSG00000105419ENST00000561293p.V174Fc.520G>TSubstitution - Missense
AMDHD2ENSG00000162066ENST00000302956p.L233Lc.699C>TSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.R498Gc.1492A>GSubstitution - Missense
FOXO4ENSG00000184481ENST00000374259p.D53Hc.157G>CSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.R704Sc.2110C>ASubstitution - Missense
EHMT1ENSG00000181090ENST00000460843p.A780Ac.2340G>ASubstitution - coding silent
EXD3ENSG00000187609ENST00000340951p.Q394*c.1180C>TSubstitution - Nonsense
PTGDSENSG00000107317ENST00000224167p.?c.433+5T>CUnknown
NPDC1ENSG00000107281ENST00000371601p.A323Tc.967G>ASubstitution - Missense
HAUS6ENSG00000147874ENST00000380502p.H13Yc.37C>TSubstitution - Missense
RELNENSG00000189056ENST00000343529p.G1830Gc.5490T>ASubstitution - coding silent
COL26A1ENSG00000160963ENST00000397927p.L92Lc.276C>TSubstitution - coding silent
NSUN5ENSG00000130305ENST00000438747p.K103Rc.308A>GSubstitution - Missense
USP49ENSG00000164663ENST00000373006p.A228Tc.682G>ASubstitution - Missense
MOCS1ENSG00000124615ENST00000373186p.F245Cc.734T>GSubstitution - Missense
MOCS1ENSG00000124615ENST00000340692p.F245Cc.734T>GSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.V1310Ic.3928G>ASubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.L579Rc.1736T>GSubstitution - Missense
SCAPENSG00000114650ENST00000265565p.V289Ac.866T>CSubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.S1065Fc.3194C>TSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.P1669Pc.5007G>ASubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.R2918Hc.8753G>ASubstitution - Missense
LMF2ENSG00000100258ENST00000216080p.I512Ic.1536C>ASubstitution - coding silent
ENST00000329492_v62p.G540Sc.1618G>ASubstitution - Missense
MAPK8IP2ENSG00000008735ENST00000008876p.G246Sc.736G>ASubstitution - Missense
DENND6BENSG00000205593ENST00000413817p.I571Ic.1713C>TSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.V762Lc.2284G>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.I174Mc.522A>GSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.R9Qc.26G>ASubstitution - Missense
PELI1ENSG00000197329ENST00000358912p.S242Sc.726G>ASubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.?c.4833-6T>CUnknown
ALPPL2ENSG00000163286ENST00000295453p.G60Gc.180T>CSubstitution - coding silent
ALPPL2ENSG00000163286ENST00000295453p.D61Dc.183C>TSubstitution - coding silent
SP110ENSG00000135899ENST00000540870p.P146Sc.436C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.?c.4488+10G>CUnknown
ENST00000396788p.?c.3999+10G>CUnknown
ZNF142ENSG00000115568ENST00000411696p.L867Vc.2599C>GSubstitution - Missense
FBXO36ENSG00000153832ENST00000283946p.S140Sc.420G>ASubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.P1597Qc.4790C>ASubstitution - Missense
GPBAR1ENSG00000179921ENST00000479077p.W132*c.396G>ASubstitution - Nonsense
USP37ENSG00000135913ENST00000258399p.G543Ec.1628G>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.?c.734-4A>GUnknown
GREB1ENSG00000196208ENST00000381486p.V122Vc.366C>GSubstitution - coding silent
GREB1ENSG00000196208ENST00000381483p.V122Vc.366C>GSubstitution - coding silent
GREB1ENSG00000196208ENST00000263834p.V122Vc.366C>GSubstitution - coding silent
GREB1ENSG00000196208ENST00000381486p.S641Yc.1922C>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.C650Cc.1950C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q1825Ec.5473C>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.Q1825Ec.5473C>GSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.V1338Lc.4012G>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.T1129Tc.3387C>GSubstitution - coding silent
ENST00000425592_v68p.P107Pc.321A>GSubstitution - coding silent
ASAP1ENSG00000153317ENST00000357668p.P917Pc.2751G>ASubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.L769Pc.2306T>CSubstitution - Missense
ENSG00000258417ENST00000262283p.V644Vc.1932G>ASubstitution - coding silent
XM_070277.6p.V406Vc.1218G>ASubstitution - coding silent
SCN3AENSG00000153253ENST00000283254p.S1758Sc.5274C>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000283254p.S1758Cc.5273C>GSubstitution - Missense
GUCD1ENSG00000138867ENST00000407471p.?c.43+4A>TUnknown
CSRNP3ENSG00000178662ENST00000342316p.S208Sc.624A>GSubstitution - coding silent
ENSG00000176349ENST00000318959p.V27Ic.79G>ASubstitution - Missense
NM_017760.4p.I265Mc.795T>GSubstitution - Missense
LNX1ENSG00000072201ENST00000263925p.Q113fs*24c.337delCDeletion - Frameshift
WDSUB1ENSG00000196151ENST00000359774p.Y129Cc.386A>GSubstitution - Missense
MRFAP1ENSG00000179010ENST00000320912p.D87Dc.261C>TSubstitution - coding silent
ZNF334ENSG00000198185ENST00000347606p.I286Nc.857T>ASubstitution - Missense
ZSWIM1ENSG00000168612ENST00000372523p.L258Lc.774C>TSubstitution - coding silent
SNX21ENSG00000124104ENST00000491381p.G28Ec.83G>ASubstitution - Missense
RND3ENSG00000115963ENST00000263895p.A228Tc.682G>ASubstitution - Missense
PHLDB3ENSG00000176531ENST00000292140p.S337Sc.1011T>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.S832Nc.2495G>ASubstitution - Missense
CEACAM3ENSG00000170956ENST00000357396p.M244Vc.730A>GSubstitution - Missense
ENST00000319396p.H367Rc.1100A>GSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.Q1418*c.4252C>TSubstitution - Nonsense
HPRENSG00000261701ENST00000540303p.H108Qc.324C>GSubstitution - Missense
ENST00000316490p.R3699Hc.11096G>ASubstitution - Missense
LANCL2ENSG00000132434ENST00000254770p.R316Wc.946C>TSubstitution - Missense
ATXN7L1ENSG00000146776ENST00000318724p.G44Gc.132C>ASubstitution - coding silent
MICALL2ENSG00000164877ENST00000297508p.V855Lc.2563G>TSubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.A648Vc.1943C>TSubstitution - Missense
MOGENSG00000204655ENST00000376917p.?c.592+5G>AUnknown
SLC35A4ENSG00000176087ENST00000323146p.R212Qc.635G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000263519p.I198Mc.594C>GSubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.I198Mc.594C>GSubstitution - Missense
PCDHA8ENSG00000204962ENST00000378123p.P657Tc.1969C>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.I198Mc.594C>GSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.T801fs*>45c.2398delADeletion - Frameshift
ELMO1ENSG00000155849ENST00000310758p.G343Gc.1029C>ASubstitution - coding silent
EEPD1ENSG00000122547ENST00000242108p.P170Pc.510C>TSubstitution - coding silent
SPTBN4ENSG00000160460ENST00000352632p.?c.2904-3C>AUnknown
SECISBP2ENSG00000187742ENST00000375807p.D451Dc.1353C>TSubstitution - coding silent
DAPK1ENSG00000196730ENST00000408954p.K278Ic.833A>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.K278Ic.833A>TSubstitution - Missense
BRD3ENSG00000169925ENST00000303407p.G698Gc.2094C>ASubstitution - coding silent
MAMDC4ENSG00000177943ENST00000317446p.F359Sc.1076T>CSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.F359Sc.1076T>CSubstitution - Missense
C9orf172ENSG00000232434ENST00000436881p.P298Pc.894C>TSubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.A2101Tc.6301G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.T2084Nc.6251C>ASubstitution - Missense
TJP3ENSG00000105289ENST00000262968p.?c.1492+8C>TUnknown
ZBBXENSG00000169064ENST00000455345p.K160Ec.478A>GSubstitution - Missense
RASGRP4ENSG00000171777ENST00000454404p.Q67Hc.201G>TSubstitution - Missense
LPOENSG00000167419ENST00000262290p.N146Sc.437A>GSubstitution - Missense
SRBD1ENSG00000068784ENST00000263736p.L485Fc.1455A>TSubstitution - Missense
OR1D5ENSG00000262628ENST00000575751p.P210Rc.629C>GSubstitution - Missense
ATL2ENSG00000119787ENST00000419554p.M482Vc.1444A>GSubstitution - Missense
MOXD1ENSG00000079931ENST00000367963p.?c.411+8A>GUnknown
MOXD1ENSG00000079931ENST00000336749p.?c.207+8A>GUnknown
BAATENSG00000136881ENST00000259407p.H49Hc.147C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.V2473Vc.7419G>ASubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.S1171Sc.3513T>CSubstitution - coding silent
REV3LENSG00000009413ENST00000358835p.I951Ic.2853T>CSubstitution - coding silent
NM_002912.1p.I873Ic.2619T>CSubstitution - coding silent
APOBEC3DENSG00000243811ENST00000216099p.T288Ic.863C>TSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.H503Rc.1508A>GSubstitution - Missense
PRKCQENSG00000065675ENST00000263125p.N595Sc.1784A>GSubstitution - Missense
C5orf49ENSG00000215217ENST00000399810p.R105Cc.313C>TSubstitution - Missense
PTGDSENSG00000107317ENST00000371623p.D146Dc.438T>CSubstitution - coding silent
NPDC1ENSG00000107281ENST00000371600p.A401Tc.1201G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.G878*c.2632G>TSubstitution - Nonsense
ENST00000540645p.?c.380-7G>AUnknown
DAPK1ENSG00000196730ENST00000469640p.K278Ic.833A>TSubstitution - Missense
FUT10ENSG00000172728ENST00000335589p.S42Lc.125C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.Q1504Qc.4512G>ASubstitution - coding silent
PLECENSG00000178209ENST00000356346p.Q1490Qc.4470G>ASubstitution - coding silent
PILRBENSG00000121716ENST00000448382p.P184Pc.552G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.A576Sc.1726G>TSubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.T416Rc.1247C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.G1168Rc.3502G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.G1227Rc.3679G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.W2646Rc.7936T>CSubstitution - Missense
USP49ENSG00000164663ENST00000394253p.A228Tc.682G>ASubstitution - Missense
DSEENSG00000111817ENST00000540275p.N157Sc.470A>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.F423Fc.1269C>TSubstitution - coding silent
SIMC1ENSG00000170085ENST00000332772p.T141Tc.423C>TSubstitution - coding silent
ACBD5ENSG00000107897ENST00000375888p.N230fs*29c.687delGDeletion - Frameshift
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.908_909ins15Insertion - In frame
PCDHAC1ENSG00000248383ENST00000409700p.S564fs*21c.1689delTDeletion - Frameshift
DCBLD2ENSG00000057019ENST00000326857p.G162Sc.484G>ASubstitution - Missense
ATL2ENSG00000119787ENST00000378954p.M482Vc.1444A>GSubstitution - Missense
SLC2A11ENSG00000133460ENST00000345044p.?c.1162+2T>CUnknown
SPTBN4ENSG00000160460ENST00000344104p.?c.2904-3C>AUnknown
SDK2ENSG00000069188ENST00000392650p.V2030Ic.6088G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000414043p.A429Tc.1285G>ASubstitution - Missense
GGT6ENSG00000167741ENST00000574154p.Q445Rc.1334A>GSubstitution - Missense
GTPBP3ENSG00000130299ENST00000361619p.C68Gc.202T>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.F113Lc.337T>CSubstitution - Missense
SERINC4ENSG00000184716ENST00000319327p.R285Cc.853C>TSubstitution - Missense
KNSTRNENSG00000128944ENST00000416151p.S19Cc.56C>GSubstitution - Missense
AMDHD2ENSG00000162066ENST00000413459p.L233Lc.699C>TSubstitution - coding silent
COL16A1ENSG00000084636ENST00000271069p.P633Pc.1899G>ASubstitution - coding silent
SETDB1ENSG00000143379ENST00000498193p.?c.448-9T>AUnknown
APH1AENSG00000117362ENST00000369109p.S196Ic.587G>TSubstitution - Missense
MTHFRENSG00000177000ENST00000376583p.R514Wc.1540C>TSubstitution - Missense
TMEM52ENSG00000178821ENST00000378602p.D84Nc.250G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000313234p.R310Wc.928C>TSubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.L302Lc.906C>TSubstitution - coding silent
MYPNENSG00000138347ENST00000354393p.R864Rc.2592C>TSubstitution - coding silent
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
ENSG00000150076ENST00000375025p.L642Lc.1926G>CSubstitution - coding silent
DOCK1ENSG00000150760ENST00000280333p.T1587Tc.4761G>ASubstitution - coding silent
ID1ENSG00000125968ENST00000376105p.T8Tc.24C>TSubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.T2651Tc.7953G>ASubstitution - coding silent
BRD2ENSG00000204256ENST00000395289p.P64Pc.192G>CSubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.A439Ac.1317C>GSubstitution - coding silent
CD2APENSG00000198087ENST00000359314p.P241Tc.721C>ASubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.R192Qc.575G>ASubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.G387Vc.1160G>TSubstitution - Missense
PALLDENSG00000129116ENST00000261509p.T156Ac.466A>GSubstitution - Missense
PALLDENSG00000129116ENST00000508898p.T135Ac.403A>GSubstitution - Missense
ENST00000345702p.T680Tc.2040C>TSubstitution - coding silent
SLIT3ENSG00000184347ENST00000519560p.F423Fc.1269C>TSubstitution - coding silent
HTR3DENSG00000186090ENST00000334128p.T153Pc.457A>CSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R1356Rc.4068C>TSubstitution - coding silent
DGKGENSG00000058866ENST00000265022p.R375Hc.1124G>ASubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.E93Kc.277G>ASubstitution - Missense
CCBL1ENSG00000171097ENST00000427720p.D58Nc.172G>ASubstitution - Missense
HTR3DENSG00000186090ENST00000382489p.T328Pc.982A>CSubstitution - Missense
COL6A2ENSG00000142173ENST00000310645p.A410Ac.1230C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.R30Lc.89G>TSubstitution - Missense
LGALS9ENSG00000168961ENST00000395473p.R125Rc.375C>TSubstitution - coding silent
MAGI1ENSG00000151276ENST00000330909p.P959Rc.2876C>GSubstitution - Missense
ZNF724PENSG00000196081ENST00000418100p.G176Dc.527G>ASubstitution - Missense
GJB6ENSG00000121742ENST00000400065p.P164Sc.490C>TSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.V101Vc.303T>GSubstitution - coding silent
GSTO1ENSG00000148834ENST00000369713p.P179Lc.536C>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.?c.448-9T>AUnknown
SYNE1ENSG00000131018ENST00000341594p.W2678Rc.8032T>CSubstitution - Missense
HTR3DENSG00000186090ENST00000428798p.T278Pc.832A>CSubstitution - Missense
CCBL1ENSG00000171097ENST00000436267p.D151Nc.451G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.R3961*c.11881C>TSubstitution - Nonsense
CPEB4ENSG00000113742ENST00000265085p.S40Sc.120C>TSubstitution - coding silent
OR1N2ENSG00000171501ENST00000373688p.S247Yc.740C>ASubstitution - Missense
PHACTR1ENSG00000112137ENST00000379348p.K154Kc.462G>ASubstitution - coding silent
U2AF1L4ENSG00000161265ENST00000292879p.G25Ec.74G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.?c.5674+9G>AUnknown
GLTSCR1ENSG00000063169ENST00000396720p.A997Vc.2990C>TSubstitution - Missense
PNKDENSG00000127838ENST00000248451p.G86Sc.256G>ASubstitution - Missense
ENST00000356127p.I12743Tc.38228T>CSubstitution - Missense
NM_003319p.K5937Nc.17811A>TSubstitution - Missense
FSCN2ENSG00000186765ENST00000334850p.T25fs*120c.72delGDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.R23118Qc.69353G>ASubstitution - Missense
DGKIENSG00000157680ENST00000288490p.L853Lc.2559G>ASubstitution - coding silent
GJB6ENSG00000121742ENST00000400065p.P164Lc.491C>TSubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.M1867Ic.5601G>TSubstitution - Missense
STRIP1ENSG00000143093ENST00000369795p.S516Rc.1548C>GSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.A830Sc.2488G>TSubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.E138delEc.413_415delAGGDeletion - In frame
SLC24A4ENSG00000140090ENST00000532405p.I215Tc.644T>CSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D1980Dc.5940C>TSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.R3203Sc.9609A>TSubstitution - Missense
KIF5BENSG00000170759ENST00000302418p.Q444Qc.1332A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.Q2518Hc.7554G>CSubstitution - Missense
GGT6ENSG00000167741ENST00000574154p.P7Lc.20C>TSubstitution - Missense
ARID3AENSG00000116017ENST00000263620p.G364Gc.1092C>TSubstitution - coding silent
FYCO1ENSG00000163820ENST00000296137p.A1072Vc.3215C>TSubstitution - Missense
ENST00000302418_v70p.Q444Qc.1332A>GSubstitution - coding silent
BTBD11ENSG00000151136ENST00000357167p.?c.1452-6G>AUnknown
COL16A1ENSG00000084636ENST00000271069p.Y1361Yc.4083T>CSubstitution - coding silent
KIAA0196ENSG00000164961ENST00000318410p.Q533Qc.1599A>GSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.V619Lc.1855G>CSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.T2123Nc.6368C>ASubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.K160Ec.478A>GSubstitution - Missense
THADAENSG00000115970ENST00000405975p.R1363Cc.4087C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.P1087Pc.3261C>TSubstitution - coding silent
SASH1ENSG00000111961ENST00000367467p.R899Tc.2696G>CSubstitution - Missense
MEMO1ENSG00000162959ENST00000295065p.S123Sc.369T>ASubstitution - coding silent
CDH11ENSG00000140937ENST00000394156p.T521Mc.1562C>TSubstitution - Missense
GOT2ENSG00000125166ENST00000245206p.R287Rc.861T>CSubstitution - coding silent
CCDC88AENSG00000115355ENST00000263630p.?c.3324+10T>CUnknown
TP53I3ENSG00000115129ENST00000335934p.K176Nc.528G>TSubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.L91Fc.273G>TSubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.P1407Ac.4219C>GSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.S678Sc.2034A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.I6438Tc.19313T>CSubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.E32Ec.96G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.T520Kc.1559C>ASubstitution - Missense
ADARB1ENSG00000197381ENST00000389863p.R510Ic.1529G>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.Q1531Qc.4593G>ASubstitution - coding silent
SLC45A3ENSG00000158715ENST00000367145p.R247Hc.740G>ASubstitution - Missense
ATAD3BENSG00000160072ENST00000308647p.?c.1338-9G>TUnknown
NECAP2ENSG00000157191ENST00000443980p.P202Sc.604C>TSubstitution - Missense
FGF8ENSG00000107831ENST00000320185p.L163Lc.487C>TSubstitution - coding silent
OR4B1ENSG00000175619ENST00000309562p.S301Rc.903C>ASubstitution - Missense
ABLIM3ENSG00000173210ENST00000504238p.R275Qc.824G>ASubstitution - Missense
ENST00000328843_v70p.?c.4012-8G>AUnknown
TNKS1BP1ENSG00000149115ENST00000358252p.G736Rc.2206G>ASubstitution - Missense
ENST00000575751_v68p.P210Rc.629C>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.S832Nc.2495G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.P109Pc.327C>TSubstitution - coding silent
DHX33ENSG00000005100ENST00000225296p.R549Hc.1646G>ASubstitution - Missense
GPSM1ENSG00000160360ENST00000354753p.D100Nc.298G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000348066p.A406Tc.1216G>ASubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.?c.859-2A>GUnknown
SP110ENSG00000135899ENST00000258381p.P140Sc.418C>TSubstitution - Missense
NSUN5ENSG00000130305ENST00000252594p.K103Rc.308A>GSubstitution - Missense
MPHOSPH10ENSG00000124383ENST00000244230p.K678Rc.2033A>GSubstitution - Missense
FUT10ENSG00000172728ENST00000327671p.H117Yc.349C>TSubstitution - Missense
TAS2R3ENSG00000127362ENST00000247879p.L122Fc.364C>TSubstitution - Missense
IFNAR2ENSG00000159110ENST00000382241p.P155Lc.464C>TSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.T1253Tc.3759G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R29490Qc.88469G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.A410Ac.1230C>TSubstitution - coding silent
XM_372532.2p.V304Ic.910G>ASubstitution - Missense
CHCHD7ENSG00000170791ENST00000303759p.?c.59+7T>GUnknown
SYNE2ENSG00000054654ENST00000358025p.L1018Lc.3054A>CSubstitution - coding silent
APIPENSG00000149089ENST00000395787p.A124Gc.371C>GSubstitution - Missense
CD200R1ENSG00000163606ENST00000440122p.S138Lc.413C>TSubstitution - Missense
CLOCKENSG00000134852ENST00000381322p.N189Sc.566A>GSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.R820Hc.2459G>ASubstitution - Missense
MYPNENSG00000138347ENST00000540630p.R1139Rc.3417C>TSubstitution - coding silent
OR51I1ENSG00000167359ENST00000380211p.V164Gc.491T>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.G1029Gc.3087C>TSubstitution - coding silent
GALNT10ENSG00000164574ENST00000425427p.V361Ic.1081G>ASubstitution - Missense
FAM50BENSG00000145945ENST00000380274p.K321Kc.963G>ASubstitution - coding silent
NDST1ENSG00000070614ENST00000261797p.D588Dc.1764C>TSubstitution - coding silent
PCDHGB1ENSG00000254221ENST00000523390p.A537Vc.1610C>TSubstitution - Missense
GPC1ENSG00000063660ENST00000264039p.L293Lc.879C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.K12434Nc.37302A>TSubstitution - Missense
ID1ENSG00000125968ENST00000376112p.T8Tc.24C>TSubstitution - coding silent
SDAD1ENSG00000198301ENST00000356260p.L324Fc.972G>CSubstitution - Missense
RPTORENSG00000141564ENST00000306801p.?c.2243-3C>AUnknown
TLE3ENSG00000140332ENST00000558939p.Q615Qc.1845G>ASubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367661p.R230Tc.689G>CSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378246p.S69Cc.205A>TSubstitution - Missense
SIPA1L1ENSG00000197555ENST00000555818p.A461Tc.1381G>ASubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.R877Wc.2629C>TSubstitution - Missense
ENDOUENSG00000111405ENST00000229003p.I279Mc.837C>GSubstitution - Missense
CAPN8ENSG00000203697ENST00000366872p.A611Ac.1833C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.F113Lc.337T>CSubstitution - Missense
CD200R1ENSG00000163606ENST00000308611p.S138Lc.413C>TSubstitution - Missense
ZNRF3ENSG00000183579ENST00000544604p.P103Pc.309A>CSubstitution - coding silent
TTLL11ENSG00000175764ENST00000321582p.V554Vc.1662C>ASubstitution - coding silent
CCBL1ENSG00000171097ENST00000302586p.D57Nc.169G>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.887_888ins15Insertion - In frame
ENST00000256343_v70p.S850Sc.2550T>CSubstitution - coding silent
ENST00000319379p.V3991Ic.11971G>ASubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.G1145Dc.3434G>ASubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.A537Vc.1610C>TSubstitution - Missense
ANKRD40ENSG00000154945ENST00000285243p.D139Ac.416A>CSubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.D860Yc.2578G>TSubstitution - Missense
LIX1ENSG00000145721ENST00000274382p.?c.561+10T>CUnknown
SYNE1ENSG00000131018ENST00000423061p.G1168Rc.3502G>ASubstitution - Missense
HOXD8ENSG00000175879ENST00000313173p.G131Wc.391G>TSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.A910Tc.2728G>ASubstitution - Missense
ENST00000265148.1p.I1646Vc.4936A>GSubstitution - Missense
ENST00000356127p.R29488Qc.88463G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R23185Qc.69554G>ASubstitution - Missense
GMEB2ENSG00000101216ENST00000370077p.N489Nc.1467C>TSubstitution - coding silent
COL4A6ENSG00000197565ENST00000394872p.Q1583_D1584delQDc.4747_4752delCAGGACDeletion - In frame
NM_003319p.I2631Tc.7892T>CSubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.P931Rc.2792C>GSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.G1571Ec.4712G>ASubstitution - Missense
DCLRE1CENSG00000152457ENST00000378289p.S184Cc.550A>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.?c.448-9T>AUnknown
WNT9AENSG00000143816ENST00000272164p.R192Rc.574C>ASubstitution - coding silent
PRDM4ENSG00000110851ENST00000228437p.L109Lc.327A>GSubstitution - coding silent
ENST00000319957p.P55Pc.165G>CSubstitution - coding silent
OR1L4ENSG00000136939ENST00000259466p.K4Kc.12G>ASubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.S1709Sc.5127C>TSubstitution - coding silent
CEACAM5ENSG00000105388ENST00000221992p.K516Kc.1548G>ASubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.S615Cc.1844C>GSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.G1029Gc.3087C>TSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.G782Ec.2345G>ASubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.T599Rc.1796C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q2518Hc.7554G>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.K994Rc.2981A>GSubstitution - Missense
FAM120BENSG00000112584ENST00000476287p.T393Rc.1178C>GSubstitution - Missense
MT1HENSG00000205358ENST00000332374p.C26Cc.78C>TSubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.P446Pc.1338G>CSubstitution - coding silent
AATKENSG00000181409ENST00000326724p.S40Sc.120C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.I2677Tc.8030T>CSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.E2150Vc.6449A>TSubstitution - Missense
BTBD3ENSG00000132640ENST00000378226p.K56Kc.168G>ASubstitution - coding silent
TMEM52ENSG00000178821ENST00000310991p.D99Nc.295G>ASubstitution - Missense
RICTORENSG00000164327ENST00000357387p.R873Hc.2618G>ASubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.P299Lc.896C>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.R135Pc.404G>CSubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.D1854Nc.5560G>ASubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.L1077Rc.3230T>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.P28Tc.82C>ASubstitution - Missense
ESAMENSG00000149564ENST00000278927p.D120Dc.360C>TSubstitution - coding silent
ESYT1ENSG00000139641ENST00000394048p.L302Lc.906C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000313070p.V796Vc.2388G>CSubstitution - coding silent
C5ENSG00000106804ENST00000223642p.N1325Sc.3974A>GSubstitution - Missense
MUTENSG00000146085ENST00000274813p.?c.1561-2A>TUnknown
GTPBP3ENSG00000130299ENST00000358792p.C46Gc.136T>GSubstitution - Missense
SLC16A12ENSG00000152779ENST00000371790p.L223Lc.669G>ASubstitution - coding silent
USP32ENSG00000170832ENST00000300896p.S656Sc.1968T>CSubstitution - coding silent
ATXN7L1ENSG00000146776ENST00000419735p.G44Gc.132C>ASubstitution - coding silent
PIK3R4ENSG00000196455ENST00000356763p.S1178Rc.3534T>GSubstitution - Missense
ENST00000298728p.A749Ac.2247G>ASubstitution - coding silent
OSBPL10ENSG00000144645ENST00000396556p.?c.457+1G>TUnknown
CXorf67ENSG00000187690ENST00000342995p.N436Kc.1308C>GSubstitution - Missense
PLB1ENSG00000163803ENST00000422425p.I1118Tc.3353T>CSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.?c.10608-4G>CUnknown
SLC9A4ENSG00000180251ENST00000295269p.?c.1950+6T>CUnknown
TIAM1ENSG00000156299ENST00000286827p.A1424Ec.4271C>ASubstitution - Missense
RALYLENSG00000184672ENST00000522455p.?c.686-3_686-2insCUnknown
GLDCENSG00000178445ENST00000321612p.H651Hc.1953T>CSubstitution - coding silent
EFCAB4BENSG00000130038ENST00000252322p.P386Pc.1158C>ASubstitution - coding silent
FASTKD2ENSG00000118246ENST00000236980p.S155Cc.463A>TSubstitution - Missense
JDP2ENSG00000140044ENST00000267569p.P20Ac.58C>GSubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.R7Hc.20G>ASubstitution - Missense
TMEM87AENSG00000103978ENST00000389834p.P11Sc.31C>TSubstitution - Missense
RHOCENSG00000155366ENST00000339083p.R122Rc.366G>ASubstitution - coding silent
ACBD5ENSG00000107897ENST00000396271p.N221fs*29c.660delGDeletion - Frameshift
TROAPENSG00000135451ENST00000257909p.E467Kc.1399G>ASubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.P634Pc.1902G>ASubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.E914Gc.2741A>GSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.?c.734-5C>AUnknown
DMDENSG00000198947ENST00000357033p.Q1829Ec.5485C>GSubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.S151Lc.452C>TSubstitution - Missense
ZNF577ENSG00000161551ENST00000301399p.G271Gc.813G>ASubstitution - coding silent
ALS2ENSG00000003393ENST00000264276p.Y1117Cc.3350A>GSubstitution - Missense
BIN3ENSG00000147439ENST00000276416p.E109Qc.325G>CSubstitution - Missense
ZNF812ENSG00000224689ENST00000457674p.L320Fc.958C>TSubstitution - Missense
MCM8ENSG00000125885ENST00000265187p.T466Mc.1397C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000418180p.Q117_D118delQDc.349_354delCAGGACDeletion - In frame
WDR59ENSG00000103091ENST00000262144p.S203Sc.609C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.P28Tc.82C>ASubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.T1540Mc.4619C>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.R789Hc.2366G>ASubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.V782Ic.2344G>ASubstitution - Missense
SLITRK5ENSG00000165300ENST00000400028p.H198Hc.594C>TSubstitution - coding silent
FNIP2ENSG00000052795ENST00000264433p.S464Lc.1391C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T2651Tc.7953G>ASubstitution - coding silent
SLC1A6ENSG00000105143ENST00000221742p.G404Cc.1210G>TSubstitution - Missense
ENST00000425592p.P107Pc.321A>GSubstitution - coding silent
PCDHA8ENSG00000204962ENST00000531613p.P657Tc.1969C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.G769*c.2305G>TSubstitution - Nonsense
CCDC14ENSG00000175455ENST00000433542p.I133Mc.399A>GSubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.A525Ac.1575A>GSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.T1129Tc.3387C>GSubstitution - coding silent
PLXNA3ENSG00000130827ENST00000369682p.R290Hc.869G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.?c.4012-8G>AUnknown
ZBTB2ENSG00000181472ENST00000325144p.P70Pc.210C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.W2639Rc.7915T>CSubstitution - Missense
PMPCBENSG00000105819ENST00000249269p.L10Vc.28T>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.I3382Lc.10144A>CSubstitution - Missense
ZNRF3ENSG00000183579ENST00000406323p.P3Pc.9A>CSubstitution - coding silent
RAP1GDS1ENSG00000138698ENST00000453712p.D282Nc.844G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.I12743Tc.38228T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K6062Nc.18186A>TSubstitution - Missense
RALYLENSG00000184672ENST00000522455p.?c.686-3_686-2insCUnknown
GPR157ENSG00000180758ENST00000377411p.R284Cc.850C>TSubstitution - Missense
IL13RA1ENSG00000131724ENST00000371637p.A6Gc.17C>GSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.G2851Gc.8553G>CSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.G11Gc.33G>CSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.F387Yc.1160T>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.L1161Fc.3481C>TSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000322831p.R149Qc.446G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S7994Sc.23982C>TSubstitution - coding silent
MEMO1ENSG00000162959ENST00000379383p.S126Sc.378T>ASubstitution - coding silent
SNX21ENSG00000124104ENST00000342644p.G28Ec.83G>ASubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.P457Pc.1371G>ASubstitution - coding silent
WSCD1ENSG00000179314ENST00000317744p.E217Dc.651G>TSubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.?c.4093+1G>TUnknown
ENST00000319396p.H367Rc.1100A>GSubstitution - Missense
HPENSG00000257017ENST00000228226p.H145Qc.435C>GSubstitution - Missense
DENND2CENSG00000175984ENST00000393274p.R7Hc.20G>ASubstitution - Missense
MOGENSG00000204655ENST00000494692p.?c.592+5G>AUnknown
FAM133AENSG00000179083ENST00000538690p.S101Fc.302C>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.A2101Tc.6301G>ASubstitution - Missense
ENST00000238522p.S440Ac.1318T>GSubstitution - Missense
PPP2R5DENSG00000112640ENST00000485511p.T485Ic.1454C>TSubstitution - Missense
ENST00000405167p.D2757Nc.8269G>ASubstitution - Missense
FGF2ENSG00000138685ENST00000264498p.?c.578-8C>TUnknown
CDH5ENSG00000179776ENST00000341529p.G735Gc.2205C>TSubstitution - coding silent
UVSSAENSG00000163945ENST00000389851p.E561Ec.1683G>ASubstitution - coding silent
EML6ENSG00000214595ENST00000356458p.T1642Tc.4926C>TSubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.D67Nc.199G>ASubstitution - Missense
NM_020528.1p.?c.70-10T>AUnknown
ANKRD36CENSG00000174501ENST00000456556p.G577Ac.1730G>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.D597Hc.1789G>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.L2413Vc.7237C>GSubstitution - Missense
ANKHENSG00000154122ENST00000284268p.H217Hc.651C>TSubstitution - coding silent
HAPLN1ENSG00000145681ENST00000274341p.T268Ic.803C>TSubstitution - Missense
GPSM1ENSG00000160360ENST00000392945p.D123Nc.367G>ASubstitution - Missense
PRKAG3ENSG00000115592ENST00000233944p.Q349_I353delQDLGIc.1045_1059del15Deletion - In frame
MAGED2ENSG00000102316ENST00000375068p.Q266Qc.798A>GSubstitution - coding silent
EXD3ENSG00000187609ENST00000340951p.Q394*c.1180C>TSubstitution - Nonsense
ADAMTSL1ENSG00000178031ENST00000380548p.Q1435Rc.4304A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A576Sc.1726G>TSubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.R109Wc.325C>TSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.I452Tc.1355T>CSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.I1129Tc.3386T>CSubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.T539Tc.1617T>CSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.D590Dc.1770C>TSubstitution - coding silent
LIMS1ENSG00000169756ENST00000409441p.D23Nc.67G>ASubstitution - Missense
AMBNENSG00000178522ENST00000322937p.M437Tc.1310T>CSubstitution - Missense
PCBP3ENSG00000183570ENST00000400314p.?c.166-10T>AUnknown
NM_147171.1p.?c.10620-4G>CUnknown
KNSTRNENSG00000128944ENST00000249776p.S19Cc.56C>GSubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.K152Ec.454A>GSubstitution - Missense
SCAND1ENSG00000171222ENST00000373991p.P14Lc.41C>TSubstitution - Missense
ENST00000358469p.A199Sc.595G>TSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.P1044Lc.3131C>TSubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.K46Qc.136A>CSubstitution - Missense
SCP2ENSG00000116171ENST00000371514p.G393Sc.1177G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R386Qc.1157G>ASubstitution - Missense
THBS1ENSG00000137801ENST00000260356p.T293Mc.878C>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.R2159Pc.6476G>CSubstitution - Missense
FRYENSG00000073910ENST00000380250p.N1545Nc.4635T>CSubstitution - coding silent
KRT80ENSG00000167767ENST00000394815p.R310Wc.928C>TSubstitution - Missense
ACTA2ENSG00000107796ENST00000224784p.A206Ac.618T>CSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.T573Tc.1719T>CSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.A845Tc.2533G>ASubstitution - Missense
GZMAENSG00000145649ENST00000274306p.?c.70+1G>TUnknown
CALB2ENSG00000172137ENST00000302628p.Y126Yc.378C>TSubstitution - coding silent
ANAPC4ENSG00000053900ENST00000315368p.K439Kc.1317G>ASubstitution - coding silent
PCDH12ENSG00000113555ENST00000231484p.T168Ic.503C>TSubstitution - Missense
GPBAR1ENSG00000179921ENST00000522678p.W132*c.396G>ASubstitution - Nonsense
LPAR4ENSG00000147145ENST00000435339p.T26Sc.77C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q2518Hc.7554G>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q2449Hc.7347G>CSubstitution - Missense
CDH11ENSG00000140937ENST00000268603p.T521Mc.1562C>TSubstitution - Missense
ZNF273ENSG00000198039ENST00000476120p.L389Ic.1165C>ASubstitution - Missense
ENST00000396788p.L704Vc.2110C>GSubstitution - Missense
RGS19ENSG00000171700ENST00000395042p.?c.31-6C>TUnknown
HECW2ENSG00000138411ENST00000260983p.R849Sc.2547A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I6371Tc.19112T>CSubstitution - Missense
RAB3DENSG00000105514ENST00000222120p.I57Fc.169A>TSubstitution - Missense
OR2T12ENSG00000177201ENST00000317996p.R227Cc.679C>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000426342p.V99Vc.297G>ASubstitution - coding silent
ENST00000299218p.S859Sc.2577T>CSubstitution - coding silent
PAMR1ENSG00000149090ENST00000278360p.L371Vc.1111C>GSubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.A381Ac.1143G>ASubstitution - coding silent
TMEM135ENSG00000166575ENST00000305494p.S350Fc.1049C>TSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.N526Nc.1578C>TSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.T958Tc.2874C>GSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.E474Vc.1421A>TSubstitution - Missense
SDCCAG3ENSG00000165689ENST00000357365p.D102Ec.306T>ASubstitution - Missense
ENST00000310771p.R132Qc.395G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.V4046Ic.12136G>ASubstitution - Missense
BGNENSG00000182492ENST00000331595p.H115Rc.344A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.D597Hc.1789G>CSubstitution - Missense
PNISRENSG00000132424ENST00000369239p.P105Pc.315A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A576Sc.1726G>TSubstitution - Missense
CRHR2ENSG00000106113ENST00000471646p.?c.918-8G>AUnknown
ALKENSG00000171094ENST00000389048p.E314Gc.941A>GSubstitution - Missense
SIK1ENSG00000142178ENST00000270162p.?c.1976+8C>TUnknown
KIR3DL1ENSG00000167633ENST00000391728p.Q277Kc.829C>ASubstitution - Missense
ENST00000418100_v65p.G176Dc.527G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.P855Ac.2563C>GSubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.A82Vc.245C>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.908_909ins15Insertion - In frame
FRMD7ENSG00000165694ENST00000298542p.T704fs*3c.2111delCDeletion - Frameshift
MLLT10ENSG00000078403ENST00000307729p.G326Cc.976G>TSubstitution - Missense
ENST00000377072_v68p.G326Cc.976G>TSubstitution - Missense
CEP152ENSG00000103995ENST00000399334p.?c.3925+1G>TUnknown
MTHFRENSG00000177000ENST00000376592p.R473Wc.1417C>TSubstitution - Missense
DFFAENSG00000160049ENST00000377036p.E202Ec.606G>ASubstitution - coding silent
SIRT1ENSG00000096717ENST00000212015p.L147Lc.441G>TSubstitution - coding silent
ABLIM1ENSG00000099204ENST00000440467p.?c.485-1G>TUnknown
ABLIM1ENSG00000099204ENST00000440467p.?c.485-2A>TUnknown
SLC22A18ENSG00000110628ENST00000380574p.P394Pc.1182C>TSubstitution - coding silent
DCLRE1CENSG00000152457ENST00000378278p.S184Cc.550A>TSubstitution - Missense
NM_182507.1p.R345Wc.1033C>TSubstitution - Missense
NM_032496.1p.P286Rc.857C>GSubstitution - Missense
ZNF19ENSG00000157429ENST00000288177p.E259Kc.775G>ASubstitution - Missense
ENDOUENSG00000111405ENST00000542202p.I86Mc.258C>GSubstitution - Missense
ENST00000397266p.?c.659+7C>TUnknown
SCN3AENSG00000153253ENST00000409101p.S1709Cc.5126C>GSubstitution - Missense
GPX8ENSG00000164294ENST00000503787p.P135Pc.405C>TSubstitution - coding silent
U2AF1L4ENSG00000161265ENST00000412391p.G25Ec.74G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.P628Hc.1883C>ASubstitution - Missense
ENST00000316490_v65p.R3747Hc.11240G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.?c.5674+9G>AUnknown
SLC6A19ENSG00000174358ENST00000304460p.V439Vc.1317C>TSubstitution - coding silent
RREB1ENSG00000124782ENST00000379938p.G782Ec.2345G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S8334Sc.25002C>TSubstitution - coding silent
ENST00000378682p.Q488Ec.1462C>GSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.S440Ac.1318T>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2757Nc.8269G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G1161Rc.3481G>ASubstitution - Missense
LCATENSG00000213398ENST00000264005p.L206Lc.618C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.P3196Ac.9586C>GSubstitution - Missense
INHBBENSG00000163083ENST00000295228p.G366Sc.1096G>ASubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.H993Hc.2979C>TSubstitution - coding silent
SEPT2ENSG00000168385ENST00000360051p.?c.696+4A>GUnknown
ENST00000269201p.L77Lc.231A>GSubstitution - coding silent
DNAJC8ENSG00000126698ENST00000263697p.I64Lc.190A>CSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.E269Ec.807G>ASubstitution - coding silent
TRIM58ENSG00000162722ENST00000366481p.V164Mc.490G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.A3238Ac.9714C>TSubstitution - coding silent
LRRC23ENSG00000010626ENST00000007969p.N198Sc.593A>GSubstitution - Missense
SPTY2D1ENSG00000179119ENST00000336349p.A231Vc.692C>TSubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEEc.40_41insAGGAGGInsertion - In frame
HSD17B6ENSG00000025423ENST00000322165p.R19Wc.55C>TSubstitution - Missense
RRP8ENSG00000132275ENST00000254605p.I299Vc.895A>GSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.T314Mc.941C>TSubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.P369Pc.1107C>ASubstitution - coding silent
SLC6A15ENSG00000072041ENST00000266682p.A272Pc.814G>CSubstitution - Missense
CYP2C18ENSG00000108242ENST00000285979p.?c.168+7A>GUnknown
NCAPG2ENSG00000146918ENST00000409423p.I265Mc.795T>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S8334Sc.25002C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.F113Lc.337T>CSubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.T522Mc.1565C>TSubstitution - Missense
CEP72ENSG00000112877ENST00000264935p.Q343Qc.1029G>ASubstitution - coding silent
MSH5ENSG00000204410ENST00000375742p.R209Qc.626G>ASubstitution - Missense
ZNF280BENSG00000198477ENST00000360412p.P299Lc.896C>TSubstitution - Missense
ENST00000397178p.N368Dc.1102A>GSubstitution - Missense
PKD1L2ENSG00000166473ENST00000527937p.H166Nc.496C>ASubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.Q1283*c.3847C>TSubstitution - Nonsense
KCNMB2ENSG00000197584ENST00000358316p.I21Vc.61A>GSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.?c.1967+4G>AUnknown
CA10ENSG00000154975ENST00000340813p.S6Nc.17G>ASubstitution - Missense
ENST00000291011p.W23Cc.69G>CSubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.R453Rc.1359G>ASubstitution - coding silent
CBFA2T3ENSG00000129993ENST00000268679p.R414Qc.1241G>ASubstitution - Missense
RNPEPL1ENSG00000142327ENST00000270357p.?c.709-3C>TUnknown
ZNF808ENSG00000198482ENST00000359798p.V312Vc.936A>GSubstitution - coding silent
ENST00000356127p.K12434Nc.37302A>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.?c.1801-5T>CUnknown
ZCCHC7ENSG00000147905ENST00000336755p.R150Qc.449G>ASubstitution - Missense
TTC39AENSG00000085831ENST00000371750p.P217Lc.650C>TSubstitution - Missense
CSPP1ENSG00000104218ENST00000262210p.R896Cc.2686C>TSubstitution - Missense
PPP1R32ENSG00000162148ENST00000338608p.V289Mc.865G>ASubstitution - Missense
ANKK1ENSG00000170209ENST00000303941p.S290_L292delSLLc.861_869delACTGCTGTCDeletion - In frame
TUT1ENSG00000149016ENST00000308436p.L474Lc.1422G>ASubstitution - coding silent
FOLR3ENSG00000110203ENST00000456237p.H42Yc.124C>TSubstitution - Missense
MAP10ENSG00000212916ENST00000418460p.D1033Gc.3098A>GSubstitution - Missense
FCRL6ENSG00000181036ENST00000368106p.E107Ec.321G>ASubstitution - coding silent
HAUS6ENSG00000147874ENST00000380502p.C662Cc.1986C>TSubstitution - coding silent
GRAMD1CENSG00000178075ENST00000452134p.K52Nc.156A>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.L856Lc.2568G>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.P28Tc.82C>ASubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.V415Lc.1243G>CSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.S564fs*21c.1689delTDeletion - Frameshift
ABLIM3ENSG00000173210ENST00000309868p.R275Qc.824G>ASubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.C602Cc.1806T>CSubstitution - coding silent
PRDM13ENSG00000112238ENST00000369214p.K660Ec.1978A>GSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.R498Gc.1492A>GSubstitution - Missense
CCDC14ENSG00000175455ENST00000310351p.I14Mc.42A>GSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.?c.3321+10T>CUnknown
XM_051221.5p.P1616Qc.4847C>ASubstitution - Missense
CEP70ENSG00000114107ENST00000264982p.I585Tc.1754T>CSubstitution - Missense
THAP1ENSG00000131931ENST00000254250p.P121Pc.363G>CSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.K994Rc.2981A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.W2639Rc.7915T>CSubstitution - Missense
ENSG00000214732ENST00000372963p.R93Qc.278G>ASubstitution - Missense
OTUD6BENSG00000155100ENST00000404789p.P262Pc.786A>TSubstitution - coding silent
MRC2ENSG00000011028ENST00000303375p.L1082Lc.3244C>TSubstitution - coding silent
PLCG2ENSG00000197943ENST00000359376p.Y733Cc.2198A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.F113Lc.337T>CSubstitution - Missense
BTBD3ENSG00000132640ENST00000378226p.T57Pc.169A>CSubstitution - Missense
AP4E1ENSG00000081014ENST00000261842p.T911Ac.2731A>GSubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.G179Rc.535G>ASubstitution - Missense
LDHAENSG00000134333ENST00000422447p.?c.710+9T>AUnknown
FAM111BENSG00000189057ENST00000343597p.F438Fc.1314C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.P3339Ac.10015C>GSubstitution - Missense
MYPNENSG00000138347ENST00000358913p.R1139Rc.3417C>TSubstitution - coding silent
AMBPENSG00000106927ENST00000265132p.?c.557-7G>AUnknown
HTR3DENSG00000186090ENST00000382489p.L11Pc.32T>CSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R1356Rc.4068C>TSubstitution - coding silent
SLC2A11ENSG00000133460ENST00000398356p.?c.1183+2T>CUnknown
PCDHB3ENSG00000113205ENST00000231130p.Q244*c.730C>TSubstitution - Nonsense
ATP2B3ENSG00000067842ENST00000370186p.I198Mc.594C>GSubstitution - Missense
U2AF1L4ENSG00000161265ENST00000378975p.G25Ec.74G>ASubstitution - Missense
APOL3ENSG00000128284ENST00000397293p.I268Nc.803T>ASubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.K650Ec.1948A>GSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R3137Rc.9411C>ASubstitution - coding silent
NM_152424.1p.R704Sc.2110C>ASubstitution - Missense
MAPK8IP2ENSG00000008735ENST00000329492p.G540Sc.1618G>ASubstitution - Missense
FBXO36ENSG00000153832ENST00000283946p.S140Sc.420G>ASubstitution - coding silent


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