lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3756
Symbol	KCNH1
Synonymous	EAG\|EAG1\|Kv10.1\|TMBTS\|h-eag
Full name	potassium channel, voltage gated eag related subfamily H, member 1
Gene description	EAG channel 1\|ether-a-go-go potassium channel 1\|ether-a-go-go, Drosophila, homolog of\|hEAG1\|potassium voltage-gated channel subfamily H member 1\|potassium voltage-gated channel, subfamily H (eag-related), member 1\|voltage-gated potassium channel subunit K
Cytoband	1q32.2
Gene type	protein-coding
Synonymous	MIM:603305; HGNC:HGNC:6250; Ensembl:ENSG00000143473; HPRD:04492; Vega:OTTHUMG00000036309

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2425C>A; p.P809T; 1:210683826-210683826	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2135A>G; p.D712G; 1:210684116-210684116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2703G>A; p.Q901Q; 1:210683548-210683548	skin	malignant_melanoma	Substitution - coding silent
c.863G>A; p.R288H; 1:211018952-211018952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1036A>C; p.I346L; 1:210920066-210920066	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2123G>A; p.R708Q; 1:210684128-210684128	breast	carcinoma	Substitution - Missense
c.711T>C; p.Y237Y; 1:211019104-211019104	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.699C>G; p.I233M; 1:211019116-211019116	breast	carcinoma	Substitution - Missense
c.958G>T; p.A320S; 1:211018857-211018857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1899G>A; p.E633E; 1:210797524-210797524	skin	malignant_melanoma	Substitution - coding silent
c.1383C>T; p.L461L; 1:210919719-210919719	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2133C>T; p.S711S; 1:210684118-210684118	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.97G>A; p.G33R; 1:211107360-211107360	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2447C>T; p.A816V; 1:210683804-210683804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2027C>T; p.A676V; 1:210775433-210775433	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1485C>T; p.F495F; 1:210804144-210804144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.856C>T; p.L286F; 1:211018959-211018959	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1796C>T; p.T599M; 1:210797627-210797627	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2058C>A; p.A686A; 1:210775402-210775402	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.279T>C; p.N93N; 1:211103527-211103527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.978G>A; p.G326G; 1:211018837-211018837	skin	malignant_melanoma	Substitution - coding silent
c.2245G>A; p.E749K; 1:210684006-210684006	skin	malignant_melanoma	Substitution - Missense
c.1406T>G; p.I469S; 1:210919696-210919696	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.977_978GG>AA; p.G326E; 1:211018837-211018838	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2665T>C; p.L889L; 1:210683586-210683586	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.992C>T; p.A331V; 1:211018823-211018823	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1976C>A; p.A659D; 1:210775484-210775484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1976C>A; p.A659D; 1:210775484-210775484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2455T>A; p.S819T; 1:210683796-210683796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.310+10G>A; p.?; 1:211103486-211103486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2455T>A; p.S819T; 1:210683796-210683796	thyroid	other; neoplasm	Substitution - Missense
c.418A>C; p.I140L; 1:211090583-211090583	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.82A>G; p.T28A; 1:211107375-211107375	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2054C>T; p.T685M; 1:210775406-210775406	stomach	adenocarcinoma	Substitution - Missense
c.1088G>A; p.R363Q; 1:210920014-210920014	skin	malignant_melanoma	Substitution - Missense
c.2021G>A; p.R674Q; 1:210775439-210775439	breast	carcinoma	Substitution - Missense
c.103G>C; p.A35P; 1:211107354-211107354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1088G>A; p.R363Q; 1:210920014-210920014	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1221C>T; p.D407D; 1:210919881-210919881	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.355G>A; p.E119K; 1:211090646-211090646	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.2065C>A; p.H689N; 1:210775395-210775395	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.355G>A; p.E119K; 1:211090646-211090646	breast	carcinoma	Substitution - Missense
c.790G>A; p.D264N; 1:211019025-211019025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1749G>T; p.R583R; 1:210797674-210797674	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.282C>T; p.S94S; 1:211103524-211103524	skin	malignant_melanoma	Substitution - coding silent
c.679T>G; p.L227V; 1:211019136-211019136	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.594C>G; p.Y198*; 1:211019221-211019221	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2879C>T; p.S960F; 1:210683372-210683372	skin	malignant_melanoma	Substitution - Missense
c.1947G>A; p.W649*; 1:210775513-210775513	NS	malignant_melanoma	Substitution - Nonsense
c.1717C>T; p.R573C; 1:210797706-210797706	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>G; p.P335A; 1:211018812-211018812	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1577A>G; p.Y526C; 1:210804052-210804052	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2453G>A; p.G818E; 1:210683798-210683798	skin	malignant_melanoma	Substitution - Missense
c.1457T>C; p.I486T; 1:210919645-210919645	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2604G>A; p.A868A; 1:210683647-210683647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2604G>A; p.A868A; 1:210683647-210683647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506C>T; p.F502F; 1:210804123-210804123	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.919G>A; p.D307N; 1:211018896-211018896	skin	malignant_melanoma	Substitution - Missense
c.936T>C; p.F312F; 1:211018879-211018879	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1835G>A; p.G612E; 1:210797588-210797588	skin	malignant_melanoma	Substitution - Missense
c.468A>T; p.R156S; 1:211082870-211082870	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2392G>A; p.V798I; 1:210683859-210683859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2480delG; p.G827fs*48; 1:210683771-210683771	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2392G>A; p.V798I; 1:210683859-210683859	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2113-5_2113-4delTC; p.?; 1:210684142-210684143	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2418C>T; p.S806S; 1:210683833-210683833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.84T>C; p.T28T; 1:211107373-211107373	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.857T>G; p.L286R; 1:211018958-211018958	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2535G>T; p.G845G; 1:210683716-210683716	breast	carcinoma	Substitution - coding silent
c.328T>G; p.F110V; 1:211090673-211090673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2518T>A; p.F840I; 1:210683733-210683733	liver	carcinoma	Substitution - Missense
c.823G>A; p.G275R; 1:211018992-211018992	skin	malignant_melanoma	Substitution - Missense
c.98G>A; p.G33E; 1:211107359-211107359	skin	malignant_melanoma	Substitution - Missense
c.707C>T; p.P236L; 1:211019108-211019108	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.988T>A; p.F330I; 1:211018827-211018827	skin	malignant_melanoma	Substitution - Missense
c.618C>T; p.P206P; 1:211019197-211019197	skin	malignant_melanoma	Substitution - coding silent
c.1180G>T; p.A394S; 1:210919922-210919922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.719C>T; p.S240F; 1:211019096-211019096	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.740A>G; p.N247S; 1:211019075-211019075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1378A>T; p.S460C; 1:210919724-210919724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1924G>A; p.D642N; 1:210775536-210775536	breast	carcinoma	Substitution - Missense
c.440G>T; p.G147V; 1:211082898-211082898	pancreas	carcinoma	Substitution - Missense
c.440G>T; p.G147V; 1:211082898-211082898	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2405C>T; p.A802V; 1:210683846-210683846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2932T>C; p.S978P; 1:210683319-210683319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2932T>C; p.S978P; 1:210683319-210683319	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.705C>T; p.V235V; 1:211019110-211019110	skin	malignant_melanoma	Substitution - coding silent
c.349C>G; p.R117G; 1:211090652-211090652	ovary	other; neoplasm	Substitution - Missense
c.603G>A; p.E201E; 1:211019212-211019212	skin	malignant_melanoma	Substitution - coding silent
c.2113-5_2113-4delTC; p.?; 1:210684142-210684143	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1032G>T; p.Q344H; 1:211018783-211018783	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2946G>A; p.E982E; 1:210683305-210683305	skin	malignant_melanoma	Substitution - coding silent
c.257C>T; p.T86I; 1:211103549-211103549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2589C>A; p.P863P; 1:210683662-210683662	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.862C>T; p.R288C; 1:211018953-211018953	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2574G>A; p.S858S; 1:210683677-210683677	skin	malignant_melanoma	Substitution - coding silent
c.2574G>A; p.S858S; 1:210683677-210683677	skin	malignant_melanoma	Substitution - coding silent
c.1960C>T; p.L654F; 1:210775500-210775500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1604G>A; p.R535Q; 1:210804025-210804025	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1604G>A; p.R535Q; 1:210804025-210804025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1117G>T; p.E373*; 1:210919985-210919985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2574G>A; p.S858S; 1:210683677-210683677	skin	malignant_melanoma	Substitution - coding silent
c.1604G>A; p.R535Q; 1:210804025-210804025	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2789G>A; p.R930K; 1:210683462-210683462	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>A; p.D474E; 1:210919680-210919680	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2081A>G; p.N694S; 1:210775379-210775379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2100C>T; p.N700N; 1:210775360-210775360	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1428G>T; p.E476D; 1:210919674-210919674	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>A; p.Q197K; 1:211019226-211019226	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.711T>A; p.Y237*; 1:211019104-211019104	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.960C>A; p.A320A; 1:211018855-211018855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2372G>A; p.R791H; 1:210683879-210683879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>A; p.A58T; 1:211107285-211107285	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1089A>G; p.R363R; 1:210920013-210920013	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.184C>A; p.Q62K; 1:211107273-211107273	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1603C>T; p.R535*; 1:210804026-210804026	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1603C>T; p.R535*; 1:210804026-210804026	ovary	other; neoplasm	Substitution - Nonsense
c.316C>T; p.P106S; 1:211090685-211090685	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1388G>A; p.S463N; 1:210919714-210919714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.534C>A; p.V178V; 1:211082804-211082804	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2822A>G; p.N941S; 1:210683429-210683429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661A>G; p.K554R; 1:210803968-210803968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2433C>T; p.H811H; 1:210683818-210683818	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1661A>G; p.K554R; 1:210803968-210803968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.529A>C; p.N177H; 1:211082809-211082809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661A>G; p.K554R; 1:210803968-210803968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2163G>A; p.M721I; 1:210684088-210684088	skin	malignant_melanoma	Substitution - Missense
c.1305T>C; p.S435S; 1:210919797-210919797	ovary	other; neoplasm	Substitution - coding silent
c.2163G>A; p.M721I; 1:210684088-210684088	skin	malignant_melanoma	Substitution - Missense
c.1559G>A; p.R520Q; 1:210804070-210804070	pancreas	carcinoma	Substitution - Missense
c.545C>A; p.S182Y; 1:211082793-211082793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 1:210684083-210684083	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 1:210684083-210684083	skin	malignant_melanoma	Substitution - Missense
c.1629T>G; p.T543T; 1:210804000-210804000	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2168G>A; p.R723Q; 1:210684083-210684083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 1:210684083-210684083	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 1:210684083-210684083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1566C>T; p.F522F; 1:210804063-210804063	skin	malignant_melanoma	Substitution - coding silent
c.1463-1G>A; p.?; 1:210804167-210804167	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1952A>T; p.E651V; 1:210775508-210775508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.782T>A; p.F261Y; 1:211019033-211019033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.175G>T; p.E59*; 1:211107282-211107282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1875C>T; p.S625S; 1:210797548-210797548	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146G>T; p.L382L; 1:210919956-210919956	kidney	other; neoplasm	Substitution - coding silent
c.99G>T; p.G33G; 1:211107358-211107358	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.2628G>C; p.K876N; 1:210683623-210683623	central_nervous_system; brain	glioma	Substitution - Missense
c.1331C>G; p.P444R; 1:210919771-210919771	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2354C>T; p.A785V; 1:210683897-210683897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2922G>T; p.S974S; 1:210683329-210683329	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.650A>T; p.K217M; 1:211019165-211019165	bone	chondrosarcoma	Substitution - Missense
c.1496C>T; p.T499M; 1:210804133-210804133	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2966G>A; p.S989N; 1:210683285-210683285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2215C>T; p.R739C; 1:210684036-210684036	pancreas	carcinoma	Substitution - Missense
c.2692A>T; p.R898W; 1:210683559-210683559	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2762C>T; p.T921M; 1:210683489-210683489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2215C>T; p.R739C; 1:210684036-210684036	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2304G>A; p.K768K; 1:210683947-210683947	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2198C>T; p.P733L; 1:210684053-210684053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>A; p.T228T; 1:211019131-211019131	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.79G>A; p.D27N; 1:211133867-211133867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.306G>T; p.K102N; 1:211103500-211103500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2198C>T; p.P733L; 1:210684053-210684053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1761T>C; p.D587D; 1:210797662-210797662	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1627A>G; p.T543A; 1:210804002-210804002	liver	carcinoma	Substitution - Missense
c.2185delC; p.L729fs*1; 1:210684066-210684066	skin	malignant_melanoma	Deletion - Frameshift
c.1558C>T; p.R520W; 1:210804071-210804071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2573C>T; p.S858L; 1:210683678-210683678	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2561C>A; p.S854Y; 1:210683690-210683690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1558C>T; p.R520W; 1:210804071-210804071	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.R57S; 1:211107286-211107286	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1141C>T; p.L381L; 1:210919961-210919961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.747C>A; p.A249A; 1:211019068-211019068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.648delT; p.F216fs*10; 1:211019167-211019167	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2753C>T; p.P918L; 1:210683498-210683498	skin	malignant_melanoma	Substitution - Missense
c.2273G>T; p.G758V; 1:210683978-210683978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1497G>A; p.T499T; 1:210804132-210804132	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2199G>A; p.P733P; 1:210684052-210684052	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2199G>A; p.P733P; 1:210684052-210684052	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1635C>T; p.S545S; 1:210803994-210803994	skin	malignant_melanoma	Substitution - coding silent
c.2020C>T; p.R674W; 1:210775440-210775440	pancreas	carcinoma	Substitution - Missense
c.687C>T; p.F229F; 1:211019128-211019128	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.514G>T; p.V172L; 1:211082824-211082824	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.D283N; 1:211018968-211018968	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.D283N; 1:211018968-211018968	large_intestine; colon	carcinoma	Substitution - Missense
c.847G>A; p.D283N; 1:211018968-211018968	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1800G>T; p.V600V; 1:210797623-210797623	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.204-1G>T; p.?; 1:211103603-211103603	lung	carcinoma; adenocarcinoma	Unknown
c.613A>T; p.T205S; 1:211019202-211019202	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1314G>A; p.G438G; 1:210919788-210919788	skin	malignant_melanoma	Substitution - coding silent
c.881C>A; p.T294K; 1:211018934-211018934	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1942T>C; p.F648L; 1:210775518-210775518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>T; p.V671L; 1:210775449-210775449	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2969G>A; p.990; 1:210683282-210683282	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1359G>A; p.S453S; 1:210919743-210919743	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2069C>T; p.S690F; 1:210775391-210775391	skin	malignant_melanoma	Substitution - Missense
c.1033G>T; p.G345C; 1:210920069-210920069	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2806G>A; p.D936N; 1:210683445-210683445	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2739G>A; p.S913S; 1:210683512-210683512	breast	carcinoma	Substitution - coding silent
c.83C>T; p.T28I; 1:211107374-211107374	skin	malignant_melanoma	Substitution - Missense
c.1359G>T; p.S453S; 1:210919743-210919743	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.340G>T; p.A114S; 1:211090661-211090661	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2159G>A; p.R720H; 1:210684092-210684092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2636C>T; p.S879L; 1:210683615-210683615	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.130T>C; p.Y44H; 1:211107327-211107327	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2636C>T; p.S879L; 1:210683615-210683615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1206C>A; p.D402E; 1:210919896-210919896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1308C>T; p.G436G; 1:210919794-210919794	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.905C>T; p.S302F; 1:211018910-211018910	skin	malignant_melanoma	Substitution - Missense
c.1547T>C; p.L516P; 1:210804082-210804082	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1547T>C; p.L516P; 1:210804082-210804082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1434C>T; p.I478I; 1:210919668-210919668	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1602G>A; p.E534E; 1:210804027-210804027	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2245G>C; p.E749Q; 1:210684006-210684006	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1695C>T; p.A565A; 1:210797728-210797728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620C>A; p.L874M; 1:210683631-210683631	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1306G>A; p.G436S; 1:210919796-210919796	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1027_1028delAG; p.Q344fs*23; 1:211018787-211018788	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.867G>A; p.M289I; 1:211018948-211018948	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1428G>C; p.E476D; 1:210919674-210919674	parathyroid	carcinoma	Substitution - Missense
c.2597C>A; p.T866K; 1:210683654-210683654	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2345T>C; p.L782P; 1:210683906-210683906	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.692C>A; p.T231K; 1:211019123-211019123	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2707C>T; p.R903W; 1:210683544-210683544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2113-5_2113-4delTC; p.?; 1:210684142-210684143	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2707C>T; p.R903W; 1:210683544-210683544	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2387C>T; p.T796M; 1:210683864-210683864	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2212C>T; p.R738W; 1:210684039-210684039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1662G>T; p.K554N; 1:210803967-210803967	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1662G>T; p.K554N; 1:210803967-210803967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1031A>G; p.Q344R; 1:211018784-211018784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1642A>G; p.R548G; 1:210803987-210803987	prostate	carcinoma	Substitution - Missense
c.2093C>T; p.T698M; 1:210775367-210775367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1696G>T; p.D566Y; 1:210797727-210797727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1235C>T; p.T412I; 1:210919867-210919867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905C>A; p.S302Y; 1:211018910-211018910	kidney	other; neoplasm	Substitution - Missense
c.2400C>A; p.F800L; 1:210683851-210683851	breast	carcinoma	Substitution - Missense
c.2106G>A; p.R702R; 1:210775354-210775354	skin	malignant_melanoma	Substitution - coding silent
c.1408G>T; p.A470S; 1:210919694-210919694	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2388G>A; p.T796T; 1:210683863-210683863	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2106G>A; p.R702R; 1:210775354-210775354	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1028_1029insAG; p.S343fs*12; 1:211018786-211018787	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.720C>A; p.S240S; 1:211019095-211019095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2738C>T; p.S913L; 1:210683513-210683513	breast	carcinoma	Substitution - Missense
c.857T>A; p.L286H; 1:211018958-211018958	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>A; p.D221N; 1:211019154-211019154	breast	carcinoma	Substitution - Missense
c.1591G>A; p.G531R; 1:210804038-210804038	skin	malignant_melanoma	Substitution - Missense
c.2111G>T; p.R704M; 1:210775349-210775349	breast	carcinoma	Substitution - Missense
c.857T>A; p.L286H; 1:211018958-211018958	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.857T>A; p.L286H; 1:211018958-211018958	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1395C>A; p.G465G; 1:210919707-210919707	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2376G>C; p.E792D; 1:210683875-210683875	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2948G>A; p.R983K; 1:210683303-210683303	skin	malignant_melanoma	Substitution - Missense
c.2948G>A; p.R983K; 1:210683303-210683303	skin	malignant_melanoma	Substitution - Missense
c.1358C>A; p.S453*; 1:210919744-210919744	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1239C>T; p.I413I; 1:210919863-210919863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2680G>A; p.V894M; 1:210683571-210683571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2680G>A; p.V894M; 1:210683571-210683571	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.457C>T; p.R153W; 1:211082881-211082881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2661C>T; p.S887S; 1:210683590-210683590	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1734G>T; p.E578D; 1:210797689-210797689	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2944G>C; p.E982Q; 1:210683307-210683307	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2113-5_2113-4delTC; p.?; 1:210684142-210684143	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_II	Unknown
c.1430A>C; p.K477T; 1:210919672-210919672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2084T>G; p.L695R; 1:210775376-210775376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1740G>A; p.P580P; 1:210797683-210797683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1180G>A; p.A394T; 1:210919922-210919922	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1897G>C; p.E633Q; 1:210797526-210797526	breast	carcinoma	Substitution - Missense
c.1770C>T; p.L590L; 1:210797653-210797653	skin	malignant_melanoma	Substitution - coding silent
c.166C>T; p.H56Y; 1:211107291-211107291	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1754C>T; p.A585V; 1:210797669-210797669	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.222G>C; p.L74L; 1:211103584-211103584	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.166C>T; p.H56Y; 1:211107291-211107291	urinary_tract; bladder	carcinoma	Substitution - Missense
c.930C>T; p.N310N; 1:211018885-211018885	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064T>G; p.V355G; 1:210920038-210920038	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2532C>T; p.C844C; 1:210683719-210683719	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2055G>A; p.T685T; 1:210775405-210775405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.194G>A; p.S65N; 1:211107263-211107263	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1739C>A; p.P580Q; 1:210797684-210797684	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.717C>T; p.V239V; 1:211019098-211019098	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.769G>A; p.V257M; 1:211019046-211019046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1843G>A; p.V615I; 1:210797580-210797580	prostate	carcinoma	Substitution - Missense
c.827C>G; p.P276R; 1:211018988-211018988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2838T>C; p.N946N; 1:210683413-210683413	liver	carcinoma	Substitution - coding silent
c.1662+2T>C; p.?; 1:210803965-210803965	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.967G>A; p.G323S; 1:211018848-211018848	skin	malignant_melanoma	Substitution - Missense
c.1816G>A; p.D606N; 1:210797607-210797607	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2823C>T; p.N941N; 1:210683428-210683428	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2233C>T; p.R745*; 1:210684018-210684018	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1255C>T; p.L419L; 1:210919847-210919847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.615T>C; p.T205T; 1:211019200-211019200	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.17delG; p.G6fs*5; 1:211133929-211133929	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.706C>A; p.P236T; 1:211019109-211019109	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2228G>A; p.R743K; 1:210684023-210684023	skin	malignant_melanoma	Substitution - Missense
c.1087C>T; p.R363*; 1:210920015-210920015	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.663T>C; p.D221D; 1:211019152-211019152	prostate	carcinoma	Substitution - coding silent
c.2268A>G; p.R756R; 1:210683983-210683983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.516G>A; p.V172V; 1:211082822-211082822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.563T>C; p.L188P; 1:211019252-211019252	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.588C>A; p.P196P; 1:211019227-211019227	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1936G>T; p.D646Y; 1:210775524-210775524	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2534G>A; p.G845E; 1:210683717-210683717	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.481A>T; p.S161C; 1:211082857-211082857	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2603C>T; p.A868V; 1:210683648-210683648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2927C>A; p.P976Q; 1:210683324-210683324	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.434G>T; p.C145F; 1:211090567-211090567	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>T; p.I223I; 1:211019146-211019146	NS	malignant_melanoma	Substitution - coding silent
c.1483T>G; p.F495V; 1:210804146-210804146	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2590G>A; p.E864K; 1:210683661-210683661	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>T; p.I223I; 1:211019146-211019146	NS	malignant_melanoma	Substitution - coding silent
c.480C>A; p.S160R; 1:211082858-211082858	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.505G>T; p.A169S; 1:211082833-211082833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>A; p.D538N; 1:210804017-210804017	skin	malignant_melanoma	Substitution - Missense
c.1741G>T; p.A581S; 1:210797682-210797682	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2116G>T; p.V706L; 1:210684135-210684135	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1821C>T; p.L607L; 1:210797602-210797602	skin	malignant_melanoma	Substitution - coding silent
c.1062A>C; p.K354N; 1:210920040-210920040	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.734A>C; p.Q245P; 1:211019081-211019081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1292A>T; p.Q431L; 1:210919810-210919810	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1408G>A; p.A470T; 1:210919694-210919694	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2155G>T; p.E719*; 1:210684096-210684096	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2139G>C; p.V713V; 1:210684112-210684112	NS	NS	Substitution - coding silent
c.1894G>A; p.D632N; 1:210797529-210797529	skin	malignant_melanoma	Substitution - Missense
c.2211C>T; p.V737V; 1:210684040-210684040	skin	malignant_melanoma	Substitution - coding silent
c.1894G>A; p.D632N; 1:210797529-210797529	skin	malignant_melanoma	Substitution - Missense
c.2411C>T; p.S804F; 1:210683840-210683840	skin	malignant_melanoma	Substitution - Missense
c.2411C>T; p.S804F; 1:210683840-210683840	skin	malignant_melanoma	Substitution - Missense
c.2180C>T; p.A727V; 1:210684071-210684071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1768C>T; p.L590F; 1:210797655-210797655	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1798G>A; p.V600M; 1:210797625-210797625	skin	malignant_melanoma	Substitution - Missense
c.13G>A; p.G5R; 1:211133933-211133933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1996T>A; p.Y666N; 1:210775464-210775464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2550G>A; p.W850*; 1:210683701-210683701	skin	malignant_melanoma	Substitution - Nonsense
c.2483G>A; p.G828E; 1:210683768-210683768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.237G>A; p.T79T; 1:211103569-211103569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.237G>A; p.T79T; 1:211103569-211103569	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.723C>A; p.F241L; 1:211019092-211019092	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1999T>C; p.C667R; 1:210775461-210775461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1222G>A; p.E408K; 1:210919880-210919880	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2863C>A; p.L955I; 1:210683388-210683388	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1222G>A; p.E408K; 1:210919880-210919880	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1079G>A; p.R360H; 1:210920023-210920023	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2968T>A; p.*990R; 1:210683283-210683283	lung	carcinoma; small_cell_carcinoma	Nonstop extension
c.2674G>A; p.D892N; 1:210683577-210683577	ovary	other; neoplasm	Substitution - Missense
c.235A>T; p.T79S; 1:211103571-211103571	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2063C>G; p.S688C; 1:210775397-210775397	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1987G>T; p.A663S; 1:210775473-210775473	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.57G>T; p.E19D; 1:211133889-211133889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.57G>T; p.E19D; 1:211133889-211133889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1019G>A; p.G340E; 1:211018796-211018796	skin	malignant_melanoma	Substitution - Missense
c.1019G>A; p.G340E; 1:211018796-211018796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2771C>A; p.A924D; 1:210683480-210683480	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1786G>A; p.E596K; 1:210797637-210797637	skin	malignant_melanoma	Substitution - Missense
c.2542G>A; p.E848K; 1:210683709-210683709	skin	malignant_melanoma	Substitution - Missense
c.624C>A; p.H208Q; 1:211019191-211019191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.375A>G; p.L125L; 1:211090626-211090626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2834C>T; p.T945I; 1:210683417-210683417	oesophagus	carcinoma	Substitution - Missense
c.1078C>A; p.R360S; 1:210920024-210920024	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1233G>A; p.K411K; 1:210919869-210919869	skin	malignant_melanoma	Substitution - coding silent
c.1512G>A; p.Q504Q; 1:210804117-210804117	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation