Entrez Gene

Basic Information
Gene ID	3667
Name	IRS1
Synonymous	insulin receptor substrate 1;IRS1;insulin receptor substrate 1
Definition	IRS-1
Position	2q36
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.689T>C; p.V230A; 2:226798050-226798050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3461G>T; p.G1154V; 2:226795278-226795278	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1351G>T; p.G451C; 2:226797388-226797388	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>T; p.G451C; 2:226797388-226797388	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3168C>T; p.H1056H; 2:226795571-226795571	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.663C>T; p.F221F; 2:226798076-226798076	thyroid	carcinoma	Substitution - coding silent
c.2010C>T; p.G670G; 2:226796729-226796729	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2335G>T; p.E779*; 2:226796404-226796404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2030G>A; p.G677D; 2:226796709-226796709	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928G>A; p.A310T; 2:226797811-226797811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2412A>G; p.A804A; 2:226796327-226796327	breast	carcinoma	Substitution - coding silent
c.2412A>G; p.A804A; 2:226796327-226796327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2412A>G; p.A804A; 2:226796327-226796327	thyroid	other; neoplasm	Substitution - coding silent
c.3681C>T; p.S1227S; 2:226795058-226795058	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1283C>T; p.S428L; 2:226797456-226797456	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3325A>T; p.S1109C; 2:226795414-226795414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3265C>T; p.R1089C; 2:226795474-226795474	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>T; p.S474S; 2:226797317-226797317	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2202C>G; p.N734K; 2:226796537-226796537	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.927C>T; p.T309T; 2:226797812-226797812	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2202C>G; p.N734K; 2:226796537-226796537	breast	carcinoma	Substitution - Missense
c.255T>G; p.A85A; 2:226798484-226798484	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3371C>T; p.A1124V; 2:226795368-226795368	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1918G>A; p.V640I; 2:226796821-226796821	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.367_368GG>AA; p.G123K; 2:226798371-226798372	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1493C>T; p.T498I; 2:226797246-226797246	skin	malignant_melanoma	Substitution - Missense
c.518T>C; p.L173P; 2:226798221-226798221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.786T>C; p.D262D; 2:226797953-226797953	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381G>T; p.E461*; 2:226797358-226797358	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.358C>T; p.H120Y; 2:226798381-226798381	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3418C>T; p.R1140C; 2:226795321-226795321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3418C>T; p.R1140C; 2:226795321-226795321	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1267G>T; p.G423C; 2:226797472-226797472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.189G>T; p.S63S; 2:226798550-226798550	thyroid	carcinoma	Substitution - coding silent
c.125C>T; p.A42V; 2:226798614-226798614	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2354G>A; p.R785Q; 2:226796385-226796385	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2192A>G; p.D731G; 2:226796547-226796547	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.460G>A; p.V154M; 2:226798279-226798279	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.V154M; 2:226798279-226798279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2326C>T; p.R776C; 2:226796413-226796413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.669C>T; p.I223I; 2:226798070-226798070	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.669C>T; p.I223I; 2:226798070-226798070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.896_898delTGA; p.L299_T300>P; 2:226797841-226797843	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Complex - deletion inframe
c.982G>A; p.A328T; 2:226797757-226797757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.288G>T; p.A96A; 2:226798451-226798451	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.982G>A; p.A328T; 2:226797757-226797757	prostate	carcinoma	Substitution - Missense
c.1192A>G; p.S398G; 2:226797547-226797547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2668C>T; p.P890S; 2:226796071-226796071	skin	malignant_melanoma	Substitution - Missense
c.1791_1792insG; p.H598fs*13; 2:226796947-226796948	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2764A>G; p.R922G; 2:226795975-226795975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3447G>A; p.V1149V; 2:226795292-226795292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.708C>T; p.F236F; 2:226798031-226798031	skin	malignant_melanoma	Substitution - coding silent
c.160C>T; p.R54W; 2:226798579-226798579	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1791_1792insG; p.H598fs*13; 2:226796947-226796948	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1791_1792insG; p.H598fs*13; 2:226796947-226796948	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.124G>A; p.A42T; 2:226798615-226798615	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1731G>T; p.V577V; 2:226797008-226797008	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.677G>T; p.G226V; 2:226798062-226798062	prostate	adenoma	Substitution - Missense
c.3419G>A; p.R1140H; 2:226795320-226795320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>G; p.A94A; 2:226798457-226798457	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3270A>C; p.A1090A; 2:226795469-226795469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.109G>A; p.E37K; 2:226798630-226798630	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2956C>T; p.R986W; 2:226795783-226795783	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3165C>T; p.A1055A; 2:226795574-226795574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.859C>A; p.H287N; 2:226797880-226797880	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.585G>A; p.V195V; 2:226798154-226798154	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3364G>T; p.G1122W; 2:226795375-226795375	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1370G>A; p.R457H; 2:226797369-226797369	large_intestine; colon	NS	Substitution - Missense
c.279T>C; p.F93F; 2:226798460-226798460	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2397C>A; p.L799L; 2:226796342-226796342	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2193C>G; p.D731E; 2:226796546-226796546	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3225G>T; p.V1075V; 2:226795514-226795514	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.486G>A; p.E162E; 2:226798253-226798253	breast	carcinoma	Substitution - coding silent
c.3041A>G; p.D1014G; 2:226795698-226795698	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3007G>A; p.D1003N; 2:226795732-226795732	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1209C>G; p.T403T; 2:226797530-226797530	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2114delG; p.G705fs*29; 2:226796625-226796625	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2114delG; p.G705fs*29; 2:226796625-226796625	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2545G>T; p.A849S; 2:226796194-226796194	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1154C>T; p.S385L; 2:226797585-226797585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.140A>G; p.Y47C; 2:226798599-226798599	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2061C>T; p.N687N; 2:226796678-226796678	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2183G>A; p.C728Y; 2:226796556-226796556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.782G>T; p.S261I; 2:226797957-226797957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1992G>T; p.M664I; 2:226796747-226796747	thyroid	carcinoma	Substitution - Missense
c.3705G>C; p.Q1235H; 2:226795034-226795034	pancreas	carcinoma	Substitution - Missense
c.2188_2189delGG; p.G730fs*1; 2:226796550-226796551	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3007G>C; p.D1003H; 2:226795732-226795732	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.566G>A; p.S189N; 2:226798173-226798173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.58C>T; p.R20C; 2:226798681-226798681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2493T>A; p.H831Q; 2:226796246-226796246	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2035C>A; p.P679T; 2:226796704-226796704	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.198T>C; p.L66L; 2:226798541-226798541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.483A>C; p.K161N; 2:226798256-226798256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1732C>T; p.P578S; 2:226797007-226797007	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1170C>T; p.V390V; 2:226797569-226797569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.745A>C; p.M249L; 2:226797994-226797994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1103delC; p.P368fs*95; 2:226797636-226797636	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2065G>T; p.V689F; 2:226796674-226796674	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2306G>A; p.R769K; 2:226796433-226796433	central_nervous_system; brain	glioma	Substitution - Missense
c.1103delC; p.P368fs*95; 2:226797636-226797636	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.787G>A; p.E263K; 2:226797952-226797952	breast	carcinoma	Substitution - Missense
c.1103delC; p.P368fs*95; 2:226797636-226797636	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2890A>C; p.R964R; 2:226795849-226795849	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3683C>T; p.A1228V; 2:226795056-226795056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2488C>T; p.P830S; 2:226796251-226796251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2488C>T; p.P830S; 2:226796251-226796251	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.700G>A; p.G234R; 2:226798039-226798039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.G234R; 2:226798039-226798039	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1435C>T; p.P479S; 2:226797304-226797304	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2619G>T; p.R873R; 2:226796120-226796120	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3149C>T; p.A1050V; 2:226795590-226795590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2614C>A; p.P872T; 2:226796125-226796125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2875G>A; p.G959R; 2:226795864-226795864	liver	carcinoma	Substitution - Missense
c.534C>A; p.N178K; 2:226798205-226798205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1382A>G; p.E461G; 2:226797357-226797357	skin	malignant_melanoma	Substitution - Missense
c.1382A>G; p.E461G; 2:226797357-226797357	liver	carcinoma	Substitution - Missense
c.1382A>G; p.E461G; 2:226797357-226797357	liver	carcinoma	Substitution - Missense
c.1013G>A; p.R338H; 2:226797726-226797726	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3222G>A; p.R1074R; 2:226795517-226795517	central_nervous_system; brain	glioma	Substitution - coding silent
c.1790_1791insG; p.H598fs*13; 2:226796948-226796949	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.223C>T; p.R75W; 2:226798516-226798516	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3242G>A; p.R1081H; 2:226795497-226795497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>G; p.A314G; 2:226797798-226797798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.676G>A; p.G226S; 2:226798063-226798063	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>G; p.S672C; 2:226796724-226796724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3242G>A; p.R1081H; 2:226795497-226795497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2389C>T; p.R797C; 2:226796350-226796350	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.583G>A; p.V195M; 2:226798156-226798156	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2389C>T; p.R797C; 2:226796350-226796350	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6G>A; p.A2A; 2:226798733-226798733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1409G>T; p.G470V; 2:226797330-226797330	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2145A>G; p.K715K; 2:226796594-226796594	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266G>A; p.R89Q; 2:226798473-226798473	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1269C>T; p.G423G; 2:226797470-226797470	central_nervous_system; brain	glioma	Substitution - coding silent
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Q296R; 2:226797852-226797852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.698C>T; p.P233L; 2:226798041-226798041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.576C>T; p.I192I; 2:226798163-226798163	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.699C>T; p.P233P; 2:226798040-226798040	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1143C>T; p.R381R; 2:226797596-226797596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3613C>G; p.P1205A; 2:226795126-226795126	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3613C>G; p.P1205A; 2:226795126-226795126	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>A; p.E224K; 2:226798069-226798069	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3659G>A; p.R1220H; 2:226795080-226795080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2848C>T; p.R950W; 2:226795891-226795891	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1969G>T; p.V657L; 2:226796770-226796770	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3615A>C; p.P1205P; 2:226795124-226795124	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1253G>T; p.G418V; 2:226797486-226797486	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3615A>C; p.P1205P; 2:226795124-226795124	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1728C>G; p.F576L; 2:226797011-226797011	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.535C>T; p.L179L; 2:226798204-226798204	skin	malignant_melanoma	Substitution - coding silent
c.1559G>T; p.R520L; 2:226797180-226797180	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1951A>G; p.R651G; 2:226796788-226796788	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1951A>G; p.R651G; 2:226796788-226796788	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.391G>T; p.G131C; 2:226798348-226798348	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.902_903insCCCCC; p.R302fs*48; 2:226797836-226797837	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.902_903insCCCCC; p.R302fs*48; 2:226797836-226797837	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.902_903insCCCCC; p.R302fs*48; 2:226797836-226797837	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.902_903insCCCCC; p.R302fs*48; 2:226797836-226797837	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1184G>T; p.S395I; 2:226797555-226797555	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.902_903insCCCCC; p.R302fs*48; 2:226797836-226797837	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2036C>T; p.P679L; 2:226796703-226796703	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.1791delG; p.H598fs*38; 2:226796948-226796948	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1895A>G; p.Y632C; 2:226796844-226796844	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1441G>A; p.G481S; 2:226797298-226797298	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.979C>T; p.R327C; 2:226797760-226797760	breast	carcinoma	Substitution - Missense
c.2621C>G; p.A874G; 2:226796118-226796118	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2255delG; p.G752fs*191; 2:226796484-226796484	breast	carcinoma	Deletion - Frameshift
c.3558G>T; p.K1186N; 2:226795181-226795181	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.A202V; 2:226798134-226798134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>T; p.R373C; 2:226797622-226797622	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.531G>T; p.K177N; 2:226798208-226798208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890T>G; p.V297G; 2:226797849-226797849	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2309C>A; p.S770Y; 2:226796430-226796430	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.492G>T; p.W164C; 2:226798247-226798247	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2287T>G; p.S763A; 2:226796452-226796452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780C>T; p.R594C; 2:226796959-226796959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2768G>T; p.C923F; 2:226795971-226795971	oesophagus	carcinoma	Substitution - Missense
c.1742C>A; p.S581Y; 2:226796997-226796997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2199G>A; p.M733I; 2:226796540-226796540	breast	carcinoma	Substitution - Missense
c.2783A>T; p.Q928L; 2:226795956-226795956	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1780C>T; p.R594C; 2:226796959-226796959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2196C>G; p.Y732*; 2:226796543-226796543	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2057_2059delGCA; p.S686delS; 2:226796680-226796682	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.2861G>T; p.W954L; 2:226795878-226795878	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2057_2059delGCA; p.S686delS; 2:226796680-226796682	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.402C>T; p.G134G; 2:226798337-226798337	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3609A>C; p.P1203P; 2:226795130-226795130	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3609A>C; p.P1203P; 2:226795130-226795130	thyroid	other; neoplasm	Substitution - coding silent
c.3540A>G; p.I1180M; 2:226795199-226795199	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3609A>C; p.P1203P; 2:226795130-226795130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1405G>T; p.G469C; 2:226797334-226797334	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1586G>A; p.G529D; 2:226797153-226797153	ovary	other; neoplasm	Substitution - Missense
c.807G>T; p.K269N; 2:226797932-226797932	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2471G>T; p.R824M; 2:226796268-226796268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1558C>T; p.R520W; 2:226797181-226797181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1558C>T; p.R520W; 2:226797181-226797181	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1576C>T; p.H526Y; 2:226797163-226797163	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.136T>C; p.Y46H; 2:226798603-226798603	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1270G>A; p.G424S; 2:226797469-226797469	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3676T>G; p.L1226V; 2:226795063-226795063	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2891G>T; p.R964I; 2:226795848-226795848	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.330C>G; p.L110L; 2:226798409-226798409	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3132G>T; p.P1044P; 2:226795607-226795607	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.929_931delCCA; p.T311delT; 2:226797808-226797810	lung	carcinoma; non_small_cell_carcinoma	Deletion - In frame
c.2992C>T; p.R998C; 2:226795747-226795747	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1723G>A; p.A575T; 2:226797016-226797016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1965G>T; p.Q655H; 2:226796774-226796774	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.115G>C; p.G39R; 2:226798624-226798624	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1965G>T; p.Q655H; 2:226796774-226796774	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2645_2647delAGC; p.Q882delQ; 2:226796092-226796094	skin	malignant_melanoma	Deletion - In frame
c.3381C>T; p.G1127G; 2:226795358-226795358	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2645_2647delAGC; p.Q882delQ; 2:226796092-226796094	skin	malignant_melanoma	Deletion - In frame
c.548A>G; p.Y183C; 2:226798191-226798191	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.395G>A; p.G132D; 2:226798344-226798344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2005G>A; p.G669S; 2:226796734-226796734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3051A>G; p.T1017T; 2:226795688-226795688	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3351G>A; p.V1117V; 2:226795388-226795388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.967T>G; p.S323A; 2:226797772-226797772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2527C>T; p.R843*; 2:226796212-226796212	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.460G>T; p.V154L; 2:226798279-226798279	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.840C>T; p.I280I; 2:226797899-226797899	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2377A>T; p.T793S; 2:226796362-226796362	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1300A>G; p.S434G; 2:226797439-226797439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3342C>T; p.G1114G; 2:226795397-226795397	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2463C>T; p.C821C; 2:226796276-226796276	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.N464N; 2:226797347-226797347	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.751G>A; p.E251K; 2:226797988-226797988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3480C>G; p.P1160P; 2:226795259-226795259	breast	carcinoma	Substitution - coding silent
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	thyroid	other; neoplasm	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1150C>T; p.P384S; 2:226797589-226797589	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898A>C; p.T300P; 2:226797841-226797841	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3621T>C; p.P1207P; 2:226795118-226795118	thyroid	other; neoplasm	Substitution - coding silent
c.1353C>T; p.G451G; 2:226797386-226797386	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2110G>A; p.G704R; 2:226796629-226796629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.E460K; 2:226797361-226797361	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2117A>T; p.H706L; 2:226796622-226796622	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.441G>T; p.E147D; 2:226798298-226798298	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3460G>A; p.G1154R; 2:226795279-226795279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2909C>T; p.P970L; 2:226795830-226795830	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3312C>T; p.F1104F; 2:226795427-226795427	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3312C>T; p.F1104F; 2:226795427-226795427	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2514G>A; p.Q838Q; 2:226796225-226796225	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.854G>A; p.R285H; 2:226797885-226797885	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3164C>T; p.A1055V; 2:226795575-226795575	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.345C>T; p.N115N; 2:226798394-226798394	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.262A>G; p.T88A; 2:226798477-226798477	urinary_tract; bladder	carcinoma	Substitution - Missense
c.262A>G; p.T88A; 2:226798477-226798477	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3541G>C; p.D1181H; 2:226795198-226795198	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2699A>C; p.E900A; 2:226796040-226796040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2321C>T; p.T774I; 2:226796418-226796418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2399A>G; p.Y800C; 2:226796340-226796340	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2785C>T; p.P929S; 2:226795954-226795954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3317C>T; p.S1106L; 2:226795422-226795422	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3317C>T; p.S1106L; 2:226795422-226795422	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1666C>T; p.P556S; 2:226797073-226797073	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.Q239*; 2:226798024-226798024	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.679C>T; p.R227C; 2:226798060-226798060	central_nervous_system; brain	glioma	Substitution - Missense
c.375G>A; p.A125A; 2:226798364-226798364	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.142G>A; p.E48K; 2:226798597-226798597	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.142G>A; p.E48K; 2:226798597-226798597	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1066G>A; p.A356T; 2:226797673-226797673	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1066G>A; p.A356T; 2:226797673-226797673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2201A>T; p.N734I; 2:226796538-226796538	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.119delG; p.G40fs*110; 2:226798620-226798620	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2201A>T; p.N734I; 2:226796538-226796538	breast	carcinoma	Substitution - Missense
c.1848C>T; p.S616S; 2:226796891-226796891	skin	malignant_melanoma	Substitution - coding silent
c.491G>T; p.W164L; 2:226798248-226798248	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2858C>T; p.A953V; 2:226795881-226795881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1166C>T; p.P389L; 2:226797573-226797573	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1148C>T; p.S383L; 2:226797591-226797591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>T; p.R302*; 2:226797835-226797835	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1004C>T; p.T335I; 2:226797735-226797735	skin	malignant_melanoma	Substitution - Missense
c.1132C>T; p.P378S; 2:226797607-226797607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1799G>A; p.R600H; 2:226796940-226796940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.992A>T; p.D331V; 2:226797747-226797747	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2332G>A; p.G778R; 2:226796407-226796407	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>T; p.G678V; 2:226796706-226796706	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2332G>A; p.G778R; 2:226796407-226796407	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]