Entrez Gene

Basic Information
Gene ID	3691
Name	ITGB4
Synonymous	integrin, beta 4;ITGB4;integrin, beta 4
Definition	CD104 antigen\|GP150\|integrin beta-4\|integrin beta-4 subunit
Position	17q25
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2830G>A; p.V944I; 17:75742629-75742629	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3500C>T; p.S1167F; 17:75750705-75750705	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5122G>A; p.E1708K; 17:75757011-75757011	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5200A>G; p.I1734V; 17:75757089-75757089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3582G>A; p.M1194I; 17:75750787-75750787	kidney	other; neoplasm	Substitution - Missense
c.5367C>T; p.G1789G; 17:75757453-75757453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4354C>A; p.P1452T; 17:75754611-75754611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400G>A; p.R467H; 17:75732185-75732185	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5235G>A; p.L1745L; 17:75757216-75757216	pancreas	carcinoma	Substitution - coding silent
c.1538C>T; p.S513F; 17:75733573-75733573	skin	malignant_melanoma	Substitution - Missense
c.5235G>A; p.L1745L; 17:75757216-75757216	pancreas	carcinoma	Substitution - coding silent
c.4897+1G>A; p.?; 17:75756618-75756618	skin	malignant_melanoma	Unknown
c.543G>A; p.P181P; 17:75728450-75728450	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2385C>A; p.T795T; 17:75740010-75740010	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1323C>T; p.S441S; 17:75731919-75731919	skin	malignant_melanoma	Substitution - coding silent
c.3297C>T; p.T1099T; 17:75749026-75749026	skin	malignant_melanoma	Substitution - coding silent
c.1937G>A; p.R646H; 17:75736641-75736641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2128T>A; p.S710T; 17:75737552-75737552	meninges	meningioma	Substitution - Missense
c.491C>A; p.T164N; 17:75728398-75728398	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3246G>T; p.Q1082H; 17:75748975-75748975	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2525A>T; p.Q842L; 17:75740436-75740436	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3099G>A; p.A1033A; 17:75743849-75743849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4075G>A; p.G1359S; 17:75752544-75752544	skin	malignant_melanoma	Substitution - Missense
c.495C>T; p.S165S; 17:75728402-75728402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4329G>A; p.V1443V; 17:75754586-75754586	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3931G>A; p.E1311K; 17:75752311-75752311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1603T>C; p.F535L; 17:75733638-75733638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1215+1G>A; p.?; 17:75731369-75731369	skin	malignant_melanoma	Unknown
c.2645C>T; p.T882I; 17:75742352-75742352	skin	malignant_melanoma	Substitution - Missense
c.3313C>T; p.P1105S; 17:75749042-75749042	skin	malignant_melanoma	Substitution - Missense
c.1820C>T; p.S607L; 17:75736346-75736346	skin	malignant_melanoma	Substitution - Missense
c.4554C>A; p.S1518S; 17:75754811-75754811	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1882G>A; p.D628N; 17:75736586-75736586	skin	malignant_melanoma	Substitution - Missense
c.594C>A; p.D198E; 17:75729292-75729292	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2962+1G>C; p.?; 17:75742762-75742762	cervix	carcinoma; squamous_cell_carcinoma	Unknown
c.5071C>T; p.R1691W; 17:75756960-75756960	breast	carcinoma	Substitution - Missense
c.2357G>A; p.G786D; 17:75739982-75739982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3676C>T; p.L1226L; 17:75750994-75750994	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1210G>C; p.E404Q; 17:75731363-75731363	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4440C>T; p.R1480R; 17:75754697-75754697	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.614A>G; p.N205S; 17:75729312-75729312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3426G>A; p.K1142K; 17:75750220-75750220	skin	malignant_melanoma	Substitution - coding silent
c.1056G>A; p.S352S; 17:75730928-75730928	thyroid	other; neoplasm	Substitution - coding silent
c.708C>T; p.F236F; 17:75729406-75729406	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2687C>T; p.P896L; 17:75742394-75742394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4382T>C; p.M1461T; 17:75754639-75754639	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3003C>G; p.V1001V; 17:75743753-75743753	ovary	other; neoplasm	Substitution - coding silent
c.3003C>G; p.V1001V; 17:75743753-75743753	ovary	other; neoplasm	Substitution - coding silent
c.1609G>A; p.E537K; 17:75733644-75733644	pleura	pulmonary_blastoma	Substitution - Missense
c.1661G>A; p.R554Q; 17:75736054-75736054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3360G>A; p.Q1120Q; 17:75750154-75750154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1799G>A; p.R600H; 17:75736325-75736325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2447-1G>A; p.?; 17:75740357-75740357	skin	malignant_melanoma	Unknown
c.3273C>T; p.H1091H; 17:75749002-75749002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4632C>T; p.L1544L; 17:75755774-75755774	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4632C>T; p.L1544L; 17:75755774-75755774	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.99C>T; p.A33A; 17:75727214-75727214	skin	malignant_melanoma	Substitution - coding silent
c.269C>T; p.T90I; 17:75727655-75727655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1430G>A; p.G477E; 17:75732215-75732215	skin	malignant_melanoma	Substitution - Missense
c.2697G>A; p.L899L; 17:75742404-75742404	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2505T>C; p.P835P; 17:75740416-75740416	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4018G>T; p.G1340W; 17:75752487-75752487	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5364_5365insGGGGGG; p.G1790_S1791insGG; 17:75757450-75757451	skin; sole	malignant_melanoma; acral_lentiginous	Insertion - In frame
c.3490C>T; p.Q1164*; 17:75750695-75750695	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3204_3207delCTCC; p.L1070fs*89; 17:75748933-75748936	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.3490C>T; p.Q1164*; 17:75750695-75750695	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3306C>G; p.I1102M; 17:75749035-75749035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.621C>T; p.I207I; 17:75729319-75729319	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2868C>T; p.D956D; 17:75742667-75742667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3075C>T; p.S1025S; 17:75743825-75743825	skin	malignant_melanoma	Substitution - coding silent
c.3265G>T; p.G1089W; 17:75748994-75748994	skin	malignant_melanoma	Substitution - Missense
c.2742C>G; p.L914L; 17:75742449-75742449	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.542C>T; p.P181L; 17:75728449-75728449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4009G>A; p.A1337T; 17:75752478-75752478	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3927G>A; p.E1309E; 17:75752307-75752307	skin	malignant_melanoma	Substitution - coding silent
c.2399G>A; p.R800Q; 17:75740024-75740024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3104G>T; p.G1035V; 17:75743854-75743854	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5243G>A; p.R1748H; 17:75757224-75757224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.145G>A; p.A49T; 17:75727260-75727260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1750G>T; p.D584Y; 17:75736143-75736143	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.292C>T; p.R98C; 17:75727678-75727678	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1313C>A; p.P438H; 17:75731909-75731909	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.S202F; 17:75729303-75729303	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605C>T; p.S202F; 17:75729303-75729303	skin	malignant_melanoma	Substitution - Missense
c.605C>T; p.S202F; 17:75729303-75729303	skin	malignant_melanoma	Substitution - Missense
c.1761+1G>A; p.?; 17:75736155-75736155	lung	carcinoma; small_cell_carcinoma	Unknown
c.5443A>G; p.M1815V; 17:75757529-75757529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1985A>C; p.K662T; 17:75736689-75736689	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.5313C>A; p.T1771T; 17:75757294-75757294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3556C>T; p.L1186L; 17:75750761-75750761	skin	malignant_melanoma	Substitution - coding silent
c.3865C>T; p.R1289W; 17:75752245-75752245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1024G>A; p.V342I; 17:75730896-75730896	skin	malignant_melanoma	Substitution - Missense
c.3169C>A; p.L1057M; 17:75748898-75748898	thyroid	other; neoplasm	Substitution - Missense
c.2078G>A; p.G693E; 17:75737409-75737409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4125C>G; p.F1375L; 17:75753781-75753781	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4621C>T; p.P1541S; 17:75755763-75755763	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4903G>A; p.A1635T; 17:75756709-75756709	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.195G>A; p.A65A; 17:75727436-75727436	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2608C>T; p.R870W; 17:75740850-75740850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1000G>A; p.E334K; 17:75730502-75730502	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2608C>T; p.R870W; 17:75740850-75740850	skin	malignant_melanoma	Substitution - Missense
c.1595A>C; p.E532A; 17:75733630-75733630	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1998G>A; p.E666E; 17:75737329-75737329	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1764C>T; p.G588G; 17:75736290-75736290	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2756G>A; p.G919D; 17:75742463-75742463	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4995G>C; p.R1665R; 17:75756801-75756801	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3441G>A; p.W1147*; 17:75750235-75750235	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.7G>A; p.G3R; 17:75724710-75724710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4628C>A; p.S1543Y; 17:75755770-75755770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5145G>A; p.K1715K; 17:75757034-75757034	skin	malignant_melanoma	Substitution - coding silent
c.3570C>T; p.C1190C; 17:75750775-75750775	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.285C>T; p.T95T; 17:75727671-75727671	skin	malignant_melanoma	Substitution - coding silent
c.3570C>T; p.C1190C; 17:75750775-75750775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1170C>T; p.F390F; 17:75731323-75731323	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3722C>T; p.A1241V; 17:75751040-75751040	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3996C>T; p.I1332I; 17:75752465-75752465	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3269C>T; p.A1090V; 17:75748998-75748998	skin	malignant_melanoma	Substitution - Missense
c.2020C>T; p.R674W; 17:75737351-75737351	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3729G>A; p.P1243P; 17:75751047-75751047	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3347T>A; p.M1116K; 17:75750141-75750141	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2220G>A; p.K740K; 17:75737644-75737644	breast	carcinoma	Substitution - coding silent
c.5172C>T; p.F1724F; 17:75757061-75757061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2963C>A; p.A988D; 17:75743713-75743713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3549C>T; p.L1183L; 17:75750754-75750754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3826G>A; p.D1276N; 17:75752206-75752206	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.665G>A; p.G222E; 17:75729363-75729363	skin	malignant_melanoma	Substitution - Missense
c.3008G>A; p.R1003H; 17:75743758-75743758	pancreas	carcinoma	Substitution - Missense
c.3213G>A; p.L1071L; 17:75748942-75748942	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3213G>A; p.L1071L; 17:75748942-75748942	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3310G>A; p.D1104N; 17:75749039-75749039	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3310G>A; p.D1104N; 17:75749039-75749039	skin	malignant_melanoma	Substitution - Missense
c.3310G>A; p.D1104N; 17:75749039-75749039	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3310G>A; p.D1104N; 17:75749039-75749039	skin	malignant_melanoma	Substitution - Missense
c.3213G>A; p.L1071L; 17:75748942-75748942	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.87C>A; p.R29R; 17:75727202-75727202	breast	carcinoma	Substitution - coding silent
c.2056A>G; p.M686V; 17:75737387-75737387	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2490G>A; p.E830E; 17:75740401-75740401	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5033G>T; p.C1678F; 17:75756839-75756839	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2577C>T; p.S859S; 17:75740819-75740819	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2130C>T; p.S710S; 17:75737554-75737554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5033G>T; p.C1678F; 17:75756839-75756839	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4337G>A; p.R1446Q; 17:75754594-75754594	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5403G>C; p.V1801V; 17:75757489-75757489	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.326G>A; p.R109H; 17:75727712-75727712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2762A>G; p.Y921C; 17:75742469-75742469	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1160C>T; p.S387F; 17:75731313-75731313	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2520C>T; p.C840C; 17:75740431-75740431	central_nervous_system; brain	glioma	Substitution - coding silent
c.594delC; p.F201fs*9; 17:75729292-75729292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2448G>A; p.V816V; 17:75740359-75740359	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.594delC; p.F201fs*9; 17:75729292-75729292	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4029C>T; p.Y1343Y; 17:75752498-75752498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065C>T; p.I355I; 17:75730937-75730937	skin	malignant_melanoma	Substitution - coding silent
c.512T>C; p.F171S; 17:75728419-75728419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.138G>A; p.K46K; 17:75727253-75727253	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1161C>T; p.S387S; 17:75731314-75731314	skin	malignant_melanoma	Substitution - coding silent
c.3592G>A; p.A1198T; 17:75750797-75750797	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3902G>A; p.R1301H; 17:75752282-75752282	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4530C>T; p.Y1510Y; 17:75754787-75754787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3109C>T; p.R1037W; 17:75743859-75743859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2576C>T; p.S859F; 17:75740818-75740818	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4922C>T; p.P1641L; 17:75756728-75756728	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1127A>G; p.D376G; 17:75731280-75731280	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5307C>T; p.S1769S; 17:75757288-75757288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3897G>A; p.K1299K; 17:75752277-75752277	skin	malignant_melanoma	Substitution - coding silent
c.4157G>T; p.R1386L; 17:75753813-75753813	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.422C>T; p.S141F; 17:75727808-75727808	liver	carcinoma	Substitution - Missense
c.422C>T; p.S141F; 17:75727808-75727808	liver	carcinoma	Substitution - Missense
c.4019G>A; p.G1340E; 17:75752488-75752488	breast	carcinoma	Substitution - Missense
c.3230G>A; p.R1077H; 17:75748959-75748959	breast	carcinoma	Substitution - Missense
c.2843T>G; p.L948R; 17:75742642-75742642	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3298A>G; p.I1100V; 17:75749027-75749027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3663C>A; p.S1221R; 17:75750981-75750981	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.768C>A; p.T256T; 17:75730270-75730270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.538G>A; p.V180I; 17:75728445-75728445	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1428C>T; p.C476C; 17:75732213-75732213	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2836G>T; p.V946L; 17:75742635-75742635	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2454C>T; p.Y818Y; 17:75740365-75740365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.593_594insC; p.F201fs*15; 17:75729291-75729292	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4834C>T; p.R1612C; 17:75756554-75756554	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2254G>A; p.G752S; 17:75739705-75739705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1397C>A; p.A466D; 17:75732182-75732182	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1445G>A; p.S482N; 17:75732230-75732230	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.942C>T; p.L314L; 17:75730444-75730444	skin	malignant_melanoma	Substitution - coding silent
c.3907G>A; p.G1303R; 17:75752287-75752287	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5341C>G; p.L1781V; 17:75757427-75757427	skin	malignant_melanoma	Substitution - Missense
c.1560C>T; p.C520C; 17:75733595-75733595	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1343C>T; p.A448V; 17:75731939-75731939	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3383G>A; p.G1128D; 17:75750177-75750177	skin	malignant_melanoma	Substitution - Missense
c.3900G>A; p.A1300A; 17:75752280-75752280	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3827A>G; p.D1276G; 17:75752207-75752207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5367C>G; p.G1789G; 17:75757453-75757453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1267G>A; p.V423M; 17:75731863-75731863	stomach	adenocarcinoma	Substitution - Missense
c.3598G>A; p.G1200R; 17:75750803-75750803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.14G>A; p.R5H; 17:75724717-75724717	skin	malignant_melanoma	Substitution - Missense
c.2971G>A; p.V991M; 17:75743721-75743721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4988G>A; p.R1663Q; 17:75756794-75756794	skin	malignant_melanoma	Substitution - Missense
c.2795T>A; p.M932K; 17:75742594-75742594	breast	carcinoma	Substitution - Missense
c.1202_1203GG>AA; p.R401Q; 17:75731355-75731356	skin	malignant_melanoma	Substitution - Missense
c.1683_1684delGT; p.C564fs*1; 17:75736076-75736077	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.594C>T; p.D198D; 17:75729292-75729292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.594C>T; p.D198D; 17:75729292-75729292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.348G>A; p.R116R; 17:75727734-75727734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.194C>T; p.A65V; 17:75727435-75727435	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2530C>T; p.R844C; 17:75740441-75740441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.612G>T; p.K204N; 17:75729310-75729310	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3383G>C; p.G1128A; 17:75750177-75750177	liver	carcinoma	Substitution - Missense
c.3760G>A; p.E1254K; 17:75751078-75751078	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4017C>T; p.S1339S; 17:75752486-75752486	pancreas	carcinoma	Substitution - coding silent
c.5226C>T; p.F1742F; 17:75757207-75757207	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2922C>T; p.L974L; 17:75742721-75742721	skin	malignant_melanoma	Substitution - coding silent
c.1317C>T; p.S439S; 17:75731913-75731913	skin	malignant_melanoma	Substitution - coding silent
c.1789G>C; p.E597Q; 17:75736315-75736315	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5189G>A; p.G1730D; 17:75757078-75757078	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5381G>C; p.R1794P; 17:75757467-75757467	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5381G>C; p.R1794P; 17:75757467-75757467	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5381G>C; p.R1794P; 17:75757467-75757467	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5381G>C; p.R1794P; 17:75757467-75757467	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3012G>T; p.G1004G; 17:75743762-75743762	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3612G>A; p.E1204E; 17:75750817-75750817	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2240C>T; p.P747L; 17:75739691-75739691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138G>A; p.G380S; 17:75731291-75731291	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2241G>T; p.P747P; 17:75739692-75739692	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2241G>T; p.P747P; 17:75739692-75739692	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1316C>T; p.S439F; 17:75731912-75731912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1995delG; p.E666fs*103; 17:75737326-75737326	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1145G>A; p.R382Q; 17:75731298-75731298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3426G>C; p.K1142N; 17:75750220-75750220	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2745G>A; p.K915K; 17:75742452-75742452	skin	malignant_melanoma	Substitution - coding silent
c.1660C>T; p.R554*; 17:75736053-75736053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.650G>A; p.R217Q; 17:75729348-75729348	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1100G>T; p.R367L; 17:75731253-75731253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.692C>T; p.A231V; 17:75729390-75729390	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2350C>T; p.L784F; 17:75739975-75739975	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5043C>T; p.A1681A; 17:75756849-75756849	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4521C>G; p.P1507P; 17:75754778-75754778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2294G>A; p.R765Q; 17:75739919-75739919	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1859C>T; p.A620V; 17:75736385-75736385	pancreas	carcinoma	Substitution - Missense
c.1859C>T; p.A620V; 17:75736385-75736385	kidney	other; neoplasm	Substitution - Missense
c.5119A>C; p.S1707R; 17:75757008-75757008	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2547G>C; p.E849D; 17:75740458-75740458	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1532C>T; p.P511L; 17:75733567-75733567	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1567_1568delTG; p.C525fs*14; 17:75733602-75733603	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.753G>A; p.W251*; 17:75730255-75730255	skin	malignant_melanoma	Substitution - Nonsense
c.852C>T; p.N284N; 17:75730354-75730354	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.935G>A; p.R312H; 17:75730437-75730437	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1085C>A; p.A362D; 17:75730957-75730957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3501C>T; p.S1167S; 17:75750706-75750706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3759C>T; p.Y1253Y; 17:75751077-75751077	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1263G>A; p.T421T; 17:75731859-75731859	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3759C>T; p.Y1253Y; 17:75751077-75751077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.370G>C; p.E124Q; 17:75727756-75727756	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3720G>A; p.W1240*; 17:75751038-75751038	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.582G>A; p.W194*; 17:75729280-75729280	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.582G>A; p.W194*; 17:75729280-75729280	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4558G>T; p.D1520Y; 17:75754815-75754815	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.209C>T; p.A70V; 17:75727450-75727450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.582G>A; p.W194*; 17:75729280-75729280	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1164G>A; p.K388K; 17:75731317-75731317	skin	malignant_melanoma	Substitution - coding silent
c.128G>A; p.R43H; 17:75727243-75727243	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.118G>A; p.E40K; 17:75727233-75727233	skin	malignant_melanoma	Substitution - Missense
c.4659C>T; p.C1553C; 17:75755801-75755801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2598G>T; p.Q866H; 17:75740840-75740840	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2784C>T; p.D928D; 17:75742583-75742583	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4170G>A; p.W1390*; 17:75753826-75753826	liver	carcinoma	Substitution - Nonsense
c.4170G>A; p.W1390*; 17:75753826-75753826	liver	carcinoma	Substitution - Nonsense
c.5448C>T; p.D1816D; 17:75757534-75757534	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2028G>T; p.E676D; 17:75737359-75737359	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1518G>A; p.E506E; 17:75733553-75733553	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.609C>T; p.F203F; 17:75729307-75729307	skin	malignant_melanoma	Substitution - coding silent
c.5377A>G; p.T1793A; 17:75757463-75757463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5059G>C; p.A1687P; 17:75756948-75756948	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.2865C>T; p.D955D; 17:75742664-75742664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5059G>C; p.A1687P; 17:75756948-75756948	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.3364delC; p.P1123fs*37; 17:75750158-75750158	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4073C>T; p.S1358L; 17:75752542-75752542	skin	malignant_melanoma	Substitution - Missense
c.4690T>C; p.Y1564H; 17:75755832-75755832	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4371C>T; p.S1457S; 17:75754628-75754628	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.199C>T; p.L67L; 17:75727440-75727440	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.414C>T; p.F138F; 17:75727800-75727800	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.176G>A; p.R59Q; 17:75727417-75727417	urinary_tract; bladder	carcinoma	Substitution - Missense
c.939G>A; p.L313L; 17:75730441-75730441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1673C>A; p.S558Y; 17:75736066-75736066	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>A; p.G113S; 17:75727723-75727723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4156C>T; p.R1386W; 17:75753812-75753812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1634G>A; p.R545H; 17:75733669-75733669	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.717C>G; p.I239M; 17:75729415-75729415	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1215+2T>C; p.?; 17:75731370-75731370	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.4557C>T; p.H1519H; 17:75754814-75754814	pancreas	carcinoma	Substitution - coding silent
c.5013C>T; p.I1671I; 17:75756819-75756819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1144C>T; p.R382W; 17:75731297-75731297	skin	malignant_melanoma	Substitution - Missense
c.4406A>T; p.Y1469F; 17:75754663-75754663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5246C>G; p.A1749G; 17:75757227-75757227	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2590C>G; p.L864V; 17:75740832-75740832	breast	carcinoma	Substitution - Missense
c.5246C>G; p.A1749G; 17:75757227-75757227	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.309C>A; p.P103P; 17:75727695-75727695	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1120G>T; p.A374S; 17:75731273-75731273	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.251T>C; p.F84S; 17:75727492-75727492	skin	malignant_melanoma	Substitution - Missense
c.1148C>T; p.T383I; 17:75731301-75731301	breast	carcinoma	Substitution - Missense
c.5336T>C; p.L1779P; 17:75757422-75757422	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1658-1G>A; p.?; 17:75736050-75736050	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.5336T>C; p.L1779P; 17:75757422-75757422	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2241G>A; p.P747P; 17:75739692-75739692	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3297C>A; p.T1099T; 17:75749026-75749026	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3G>A; p.M1I; 17:75724706-75724706	skin	malignant_melanoma	Substitution - Missense
c.601T>G; p.F201V; 17:75729299-75729299	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4705G>A; p.G1569S; 17:75755847-75755847	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1521C>T; p.G507G; 17:75733556-75733556	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.281_282CC>TT; p.T94I; 17:75727667-75727668	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>T; p.R505W; 17:75733548-75733548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2755G>A; p.G919S; 17:75742462-75742462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.120G>T; p.E40D; 17:75727235-75727235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5465C>T; p.T1822I; 17:75757551-75757551	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1454+1G>A; p.?; 17:75732240-75732240	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.416C>G; p.S139C; 17:75727802-75727802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1544G>A; p.R515H; 17:75733579-75733579	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3425A>G; p.K1142R; 17:75750219-75750219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3060G>A; p.G1020G; 17:75743810-75743810	skin	malignant_melanoma	Substitution - coding silent
c.3060G>A; p.G1020G; 17:75743810-75743810	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1578C>T; p.Y526Y; 17:75733613-75733613	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3060G>A; p.G1020G; 17:75743810-75743810	skin	malignant_melanoma	Substitution - coding silent
c.1578C>T; p.Y526Y; 17:75733613-75733613	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.606C>T; p.S202S; 17:75729304-75729304	skin	malignant_melanoma	Substitution - coding silent
c.5094G>C; p.E1698D; 17:75756983-75756983	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]