Entrez Gene

Basic Information
Gene ID	2034
Name	EPAS1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.435G>T; p.E145D; 2:46356789-46356789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.441G>C; p.L147L; 2:46356795-46356795	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1130G>A; p.S377N; 2:46376634-46376634	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>T; p.P217P; 2:46360962-46360962	skin	malignant_melanoma	Substitution - coding silent
c.1893delG; p.G633fs*63; 2:46380565-46380565	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.931G>A; p.A311T; 2:46375734-46375734	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.244G>A; p.E82K; 2:46356177-46356177	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2309T>C; p.M770T; 2:46382446-46382446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>T; p.R166L; 2:46360680-46360680	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.232G>A; p.E78K; 2:46356165-46356165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1958C>T; p.A653V; 2:46380630-46380630	NS	malignant_melanoma	Substitution - Missense
c.2359T>C; p.S787P; 2:46382496-46382496	liver	carcinoma	Substitution - Missense
c.1876A>G; p.T626A; 2:46380548-46380548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2474_2475GG>CC; p.R825P; 2:46384521-46384522	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.809A>C; p.E270A; 2:46369856-46369856	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1522G>A; p.D508N; 2:46378735-46378735	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1612G>A; p.E538K; 2:46380284-46380284	skin	malignant_melanoma	Substitution - Missense
c.493G>C; p.E165Q; 2:46360676-46360676	breast	carcinoma	Substitution - Missense
c.2442G>A; p.S814S; 2:46382579-46382579	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2437C>A; p.L813M; 2:46382574-46382574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1064C>T; p.S355F; 2:46376568-46376568	skin	malignant_melanoma	Substitution - Missense
c.1749C>T; p.F583F; 2:46380421-46380421	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2001G>T; p.L667F; 2:46380673-46380673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1828G>A; p.D610N; 2:46380500-46380500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.836A>T; p.E279V; 2:46369883-46369883	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.836A>T; p.E279V; 2:46369883-46369883	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1309C>T; p.P437S; 2:46377953-46377953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.414C>T; p.C138C; 2:46356768-46356768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.829G>C; p.A277P; 2:46369876-46369876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.288G>A; p.E96E; 2:46356221-46356221	skin	malignant_melanoma	Substitution - coding silent
c.1516G>A; p.A506T; 2:46378729-46378729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>A; p.E142K; 2:46356778-46356778	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.215C>T; p.S72L; 2:46347061-46347061	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1736C>A; p.P579Q; 2:46380408-46380408	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1808C>A; p.P603H; 2:46380480-46380480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2356C>A; p.P786T; 2:46382493-46382493	prostate	carcinoma	Substitution - Missense
c.1148C>G; p.S383C; 2:46376652-46376652	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1089C>G; p.F363L; 2:46376593-46376593	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1847C>T; p.S616F; 2:46380519-46380519	skin	malignant_melanoma	Substitution - Missense
c.1249+1G>C; p.?; 2:46376754-46376754	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2129G>A; p.R710Q; 2:46381679-46381679	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2541C>T; p.N847N; 2:46384588-46384588	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2129G>A; p.R710Q; 2:46381679-46381679	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.588G>A; p.T196T; 2:46360899-46360899	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.276G>A; p.L92L; 2:46356209-46356209	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.68C>T; p.A23V; 2:46346914-46346914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1532C>T; p.A511V; 2:46378745-46378745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1917G>A; p.W639*; 2:46380589-46380589	breast	carcinoma	Substitution - Nonsense
c.1917G>A; p.W639*; 2:46380589-46380589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.493G>A; p.E165K; 2:46360676-46360676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2169C>T; p.S723S; 2:46381719-46381719	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2128C>T; p.R710*; 2:46381678-46381678	NS	NS	Substitution - Nonsense
c.1263C>T; p.F421F; 2:46377907-46377907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1003C>T; p.Q335*; 2:46375806-46375806	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.1775T>A; p.L592Q; 2:46380447-46380447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.694C>A; p.P232T; 2:46361005-46361005	breast	carcinoma	Substitution - Missense
c.469delA; p.S159fs*12; 2:46360652-46360652	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.824G>A; p.R275H; 2:46369871-46369871	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1625T>G; p.L542R; 2:46380297-46380297	liver	carcinoma	Substitution - Missense
c.1625T>G; p.L542R; 2:46380297-46380297	liver	carcinoma	Substitution - Missense
c.1659G>C; p.A553A; 2:46380331-46380331	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.948C>T; p.Y316Y; 2:46375751-46375751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2591G>T; p.R864I; 2:46384638-46384638	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1976C>G; p.T659R; 2:46380648-46380648	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.217G>A; p.V73I; 2:46347063-46347063	skin	malignant_melanoma	Substitution - Missense
c.1898G>A; p.G633D; 2:46380570-46380570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1908T>C; p.N636N; 2:46380580-46380580	thyroid	other; neoplasm	Substitution - coding silent
c.2367C>T; p.I789I; 2:46382504-46382504	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1035-7C>G; p.?; 2:46376532-46376532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2069G>A; p.R690Q; 2:46381619-46381619	urinary_tract; bladder	carcinoma	Substitution - Missense
c.415G>A; p.D139N; 2:46356769-46356769	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2303A>C; p.N768T; 2:46382440-46382440	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2303A>C; p.N768T; 2:46382440-46382440	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.430C>T; p.R144C; 2:46356784-46356784	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.430C>T; p.R144C; 2:46356784-46356784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.294C>A; p.F98L; 2:46356227-46356227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2372C>T; p.P791L; 2:46382509-46382509	skin	malignant_melanoma	Substitution - Missense
c.95A>T; p.E32V; 2:46346941-46346941	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.R550W; 2:46380320-46380320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.711delC; p.L239fs*7; 2:46361022-46361022	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.447C>G; p.L149L; 2:46356801-46356801	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2546C>T; p.P849L; 2:46384593-46384593	skin	malignant_melanoma	Substitution - Missense
c.2116C>T; p.L706L; 2:46381666-46381666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2568C>T; p.L856L; 2:46384615-46384615	skin	malignant_melanoma	Substitution - coding silent
c.164C>T; p.S55F; 2:46347010-46347010	skin	malignant_melanoma	Substitution - Missense
c.138T>C; p.S46S; 2:46346984-46346984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.164C>T; p.S55F; 2:46347010-46347010	breast	carcinoma	Substitution - Missense
c.2598G>T; p.L866L; 2:46384645-46384645	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.92C>T; p.T31M; 2:46346938-46346938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1531G>A; p.A511T; 2:46378744-46378744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1482C>T; p.N494N; 2:46378695-46378695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2461+1G>T; p.?; 2:46382599-46382599	ovary	other; neoplasm	Unknown
c.1637G>T; p.C546F; 2:46380309-46380309	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1093delC; p.H366fs*2; 2:46376597-46376597	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.52A>G; p.K18E; 2:46346898-46346898	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1755G>C; p.L585L; 2:46380427-46380427	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.742C>A; p.H248N; 2:46361053-46361053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.742C>A; p.H248N; 2:46361053-46361053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.139G>A; p.V47M; 2:46346985-46346985	central_nervous_system; brain	glioma	Substitution - Missense
c.2597T>C; p.L866P; 2:46384644-46384644	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.186C>T; p.S62S; 2:46347032-46347032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.98T>C; p.V33A; 2:46346944-46346944	skin	malignant_melanoma	Substitution - Missense
c.2080G>A; p.V694M; 2:46381630-46381630	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2547C>T; p.P849P; 2:46384594-46384594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.669C>G; p.I223M; 2:46360980-46360980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1515C>T; p.F505F; 2:46378728-46378728	breast	carcinoma	Substitution - coding silent
c.151C>A; p.L51M; 2:46346997-46346997	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.625A>G; p.N209D; 2:46360936-46360936	breast	carcinoma	Substitution - Missense
c.779G>T; p.R260I; 2:46361090-46361090	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1421G>C; p.S474T; 2:46378065-46378065	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2022C>A; p.P674P; 2:46380694-46380694	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2180C>T; p.P727L; 2:46381982-46381982	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2061T>G; p.F687L; 2:46381611-46381611	breast	carcinoma	Substitution - Missense
c.772G>A; p.D258N; 2:46361083-46361083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2180C>T; p.P727L; 2:46381982-46381982	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1060T>C; p.F354L; 2:46376564-46376564	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733C>T; p.A578V; 2:46380405-46380405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.D495N; 2:46378696-46378696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.988C>T; p.R330C; 2:46375791-46375791	skin	malignant_melanoma	Substitution - Missense
c.1472C>A; p.S491Y; 2:46378685-46378685	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1916G>T; p.W639L; 2:46380588-46380588	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.454+5C>T; p.?; 2:46356813-46356813	pancreas	carcinoma	Unknown
c.2296A>C; p.T766P; 2:46382433-46382433	skin	malignant_melanoma	Substitution - Missense
c.2296A>C; p.T766P; 2:46382433-46382433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2296A>C; p.T766P; 2:46382433-46382433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.971C>T; p.T324M; 2:46375774-46375774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2565G>A; p.T855T; 2:46384612-46384612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2565G>A; p.T855T; 2:46384612-46384612	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.172C>T; p.R58*; 2:46347018-46347018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.231C>T; p.N77N; 2:46356164-46356164	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.231C>T; p.N77N; 2:46356164-46356164	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2432A>G; p.Y811C; 2:46382569-46382569	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.132C>A; p.P44P; 2:46346978-46346978	breast	carcinoma	Substitution - coding silent
c.2015C>A; p.S672Y; 2:46380687-46380687	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>A; p.S672Y; 2:46380687-46380687	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.540C>A; p.G180G; 2:46360723-46360723	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2171G>A; p.G724E; 2:46381721-46381721	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.940delG; p.G315fs*30; 2:46375743-46375743	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1139G>A; p.G380E; 2:46376643-46376643	skin	malignant_melanoma	Substitution - Missense
c.1682A>G; p.Q561R; 2:46380354-46380354	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565A>G; p.N522S; 2:46380237-46380237	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2397C>T; p.F799F; 2:46382534-46382534	skin	malignant_melanoma	Substitution - coding silent
c.1900A>G; p.R634G; 2:46380572-46380572	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1557G>A; p.T519T; 2:46380229-46380229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1660G>A; p.E554K; 2:46380332-46380332	skin	malignant_melanoma	Substitution - Missense
c.867G>C; p.M289I; 2:46369914-46369914	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1026C>T; p.Y342Y; 2:46375829-46375829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503T>C; p.I501I; 2:46378716-46378716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1448A>G; p.N483S; 2:46378661-46378661	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.413G>A; p.C138Y; 2:46356767-46356767	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>T; p.S276L; 2:46369874-46369874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.S723N; 2:46381718-46381718	ovary	other; neoplasm	Substitution - Missense
c.827C>T; p.S276L; 2:46369874-46369874	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.S723N; 2:46381718-46381718	ovary	other; neoplasm	Substitution - Missense
c.1504G>A; p.E502K; 2:46378717-46378717	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.G314E; 2:46375744-46375744	NS	malignant_melanoma	Substitution - Missense
c.941G>A; p.G314E; 2:46375744-46375744	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.941G>A; p.G314E; 2:46375744-46375744	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1465T>C; p.Y489H; 2:46378678-46378678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1899C>T; p.G633G; 2:46380571-46380571	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2007C>T; p.P669P; 2:46380679-46380679	skin	malignant_melanoma	Substitution - coding silent
c.2489C>T; p.S830L; 2:46384536-46384536	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2092G>A; p.A698T; 2:46381642-46381642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1024T>C; p.Y342H; 2:46375827-46375827	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database