Entrez Gene

Basic Information
Gene ID	2260
Name	FGFR1
Synonymous	fibroblast growth factor receptor 1;FGFR1;fibroblast growth factor receptor 1
Definition	FGFR1/PLAG1 fusion\|FMS-like tyrosine kinase 2\|basic fibroblast growth factor receptor 1\|fms-related tyrosine kinase 2\|heparin-binding growth factor receptor\|hydroxyaryl-protein kinase\|proto-oncogene c-Fgr
Position	8p11.23-p11.22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1638C>A; p.N546K; 8:38417331-38417331	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1977C>T; p.N659N; 8:38414779-38414779	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1962T>C; p.Y654Y; 8:38414794-38414794	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.2292+2T>C; p.?; 8:38413916-38413916	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.2334C>G; p.P778P; 8:38413763-38413763	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1758C>T; p.N586N; 8:38415966-38415966	breast	carcinoma	Substitution - coding silent
c.2271C>T; p.I757I; 8:38413939-38413939	breast	carcinoma	Substitution - coding silent
c.1117C>T; p.L373L; 8:38419700-38419700	breast	carcinoma	Substitution - coding silent
c.1932C>T; p.L644L; 8:38414824-38414824	breast	carcinoma	Substitution - coding silent
c.310A>C; p.S104R; 8:38429730-38429730	breast	carcinoma	Substitution - Missense
c.374C>T; p.S125L; 8:38428420-38428420	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.374C>T; p.S125L; 8:38428420-38428420	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1494C>T; p.I498I; 8:38417928-38417928	breast	carcinoma	Substitution - coding silent
c.1697A>G; p.K566R; 8:38416027-38416027	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.816C>T; p.N272N; 8:38424629-38424629	breast	carcinoma	Substitution - coding silent
c.2050T>G; p.W684G; 8:38414288-38414288	breast	carcinoma	Substitution - Missense
c.51A>G; p.T17T; 8:38457396-38457396	breast	carcinoma	Substitution - coding silent
c.2407G>A; p.E803K; 8:38413690-38413690	breast	carcinoma	Substitution - Missense
c.1763G>C; p.S588T; 8:38415961-38415961	breast	carcinoma	Substitution - Missense
c.1638C>G; p.N546K; 8:38417331-38417331	central_nervous_system; fourth_ventricle	other; rosette-forming_glioneuronal_tumour	Substitution - Missense
c.1638C>G; p.N546K; 8:38417331-38417331	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1638C>G; p.N546K; 8:38417331-38417331	central_nervous_system; fourth_ventricle	other; rosette-forming_glioneuronal_tumour	Substitution - Missense
c.1638C>G; p.N546K; 8:38417331-38417331	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.761G>T; p.R254L; 8:38424684-38424684	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.944G>A; p.G315E; 8:38421934-38421934	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1726C>T; p.R576W; 8:38415998-38415998	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1756_1757delAA; p.N586fs*69; 8:38415967-38415968	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; fourth_ventricle	other; rosette-forming_glioneuronal_tumour	Substitution - Missense
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; diencephalon	glioma; astrocytoma_Grade_I	Substitution - Missense
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; fourth_ventricle	other; rosette-forming_glioneuronal_tumour	Substitution - Missense
c.1966A>G; p.K656E; 8:38414790-38414790	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1964A>T; p.K655I; 8:38414792-38414792	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; medulla	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; thalamus	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; frontal_lobe	other; papillary_glioneuronal_tumour	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.566G>A; p.R189H; 8:38427976-38427976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1952T>C; p.I651T; 8:38414804-38414804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2351G>A; p.R784Q; 8:38413746-38413746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.958G>A; p.D320N; 8:38421920-38421920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.454G>A; p.A152T; 8:38428088-38428088	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2452G>A; p.G818R; 8:38413645-38413645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2222C>A; p.P741H; 8:38413988-38413988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1113G>A; p.S371S; 8:38419704-38419704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1809C>T; p.C603C; 8:38415915-38415915	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.74C>T; p.P25L; 8:38457373-38457373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2033C>G; p.T678S; 8:38414574-38414574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2076G>A; p.E692E; 8:38414262-38414262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1145C>T; p.T382I; 8:38419672-38419672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2466_2469delCTGA; p.?; 8:38413618-38413631	eye; uveal_tract	malignant_melanoma; spindle	Unknown
c.2004A>T; p.A668A; 8:38414603-38414603	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1334G>A; p.R445Q; 8:38418324-38418324	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1640T>C; p.L547P; 8:38417329-38417329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.816C>T; p.N272N; 8:38424629-38424629	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1966A>G; p.K656E; 8:38414790-38414790	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1352C>G; p.S451C; 8:38418306-38418306	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1409G>C; p.R470P; 8:38418249-38418249	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1962T>A; p.Y654*; 8:38414794-38414794	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.30G>T; p.W10C; 8:38457417-38457417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.15G>A; p.K5K; 8:38457432-38457432	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.787G>T; p.A263S; 8:38424658-38424658	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1885G>C; p.V629L; 8:38414871-38414871	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1298C>T; p.S433F; 8:38418360-38418360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2406C>T; p.P802P; 8:38413691-38413691	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.338A>G; p.Y113C; 8:38429702-38429702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2465G>A; p.R822H; 8:38413632-38413632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.756T>C; p.P252P; 8:38424689-38424689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1684G>T; p.E562*; 8:38416040-38416040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1437C>A; p.V479V; 8:38417985-38417985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.802G>T; p.A268S; 8:38424643-38424643	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>T; p.A268S; 8:38424643-38424643	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>T; p.A268S; 8:38424643-38424643	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.632C>T; p.A211V; 8:38426235-38426235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1829G>A; p.G610D; 8:38415895-38415895	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.244A>G; p.T82A; 8:38429796-38429796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.A343V; 8:38421850-38421850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.423A>G; p.T141T; 8:38428371-38428371	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.423A>G; p.T141T; 8:38428371-38428371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1019C>T; p.T340M; 8:38421859-38421859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1019C>T; p.T340M; 8:38421859-38421859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421A>G; p.T141A; 8:38428373-38428373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421A>G; p.T141A; 8:38428373-38428373	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.421A>G; p.T141A; 8:38428373-38428373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421A>G; p.T141A; 8:38428373-38428373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421A>G; p.T141A; 8:38428373-38428373	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2091C>T; p.G697G; 8:38414247-38414247	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.303C>T; p.C101C; 8:38429737-38429737	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.375G>A; p.S125S; 8:38428419-38428419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1613T>C; p.I538T; 8:38417356-38417356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1775A>G; p.E592G; 8:38415949-38415949	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1775A>G; p.E592G; 8:38415949-38415949	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.945A>G; p.G315G; 8:38421933-38421933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2451C>T; p.G817G; 8:38413646-38413646	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.374C>T; p.S125L; 8:38428420-38428420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.P285S; 8:38424592-38424592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2024G>A; p.R675Q; 8:38414583-38414583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>A; p.D652N; 8:38414802-38414802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.680A>G; p.N227S; 8:38426187-38426187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.60C>T; p.T20T; 8:38457387-38457387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656G>A; p.T552T; 8:38417313-38417313	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1637A>G; p.N546S; 8:38417332-38417332	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2383G>A; p.V795I; 8:38413714-38413714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955A>G; p.T319A; 8:38421923-38421923	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1071C>T; p.T357T; 8:38421807-38421807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.955A>G; p.T319A; 8:38421923-38421923	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2245C>T; p.Q749*; 8:38413965-38413965	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1557C>T; p.D519D; 8:38417412-38417412	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289C>T; p.S430F; 8:38418369-38418369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.177C>T; p.D59D; 8:38429863-38429863	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.449C>T; p.P150L; 8:38428093-38428093	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2252T>C; p.V751A; 8:38413958-38413958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2252T>C; p.V751A; 8:38413958-38413958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1992G>A; p.V664V; 8:38414615-38414615	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.373T>C; p.S125P; 8:38428421-38428421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373T>C; p.S125P; 8:38428421-38428421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.652G>A; p.D218N; 8:38426215-38426215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772C>A; p.P591Q; 8:38415952-38415952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.786C>T; p.P262P; 8:38424659-38424659	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1680C>T; p.I560I; 8:38416044-38416044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.578_579insA; p.N193fs*8; 8:38427963-38427964	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.448C>T; p.P150S; 8:38428346-38428346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.P150S; 8:38428346-38428346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.957C>T; p.T319T; 8:38421921-38421921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506G>T; p.K502N; 8:38417916-38417916	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1333C>T; p.R445W; 8:38418325-38418325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.A21T; 8:38457386-38457386	liver	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 8:38457386-38457386	liver	carcinoma	Substitution - Missense
c.2107G>A; p.G703S; 8:38414231-38414231	liver	carcinoma	Substitution - Missense
c.2107G>A; p.G703S; 8:38414231-38414231	liver	carcinoma	Substitution - Missense
c.78C>A; p.T26T; 8:38457369-38457369	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.754C>A; p.P252T; 8:38424691-38424691	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.754C>A; p.P252T; 8:38424691-38424691	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.422C>G; p.T141R; 8:38428372-38428372	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.925C>A; p.Q309K; 8:38424520-38424520	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1113G>T; p.S371S; 8:38419704-38419704	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8G>T; p.S3I; 8:38457439-38457439	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2091C>T; p.G697G; 8:38414247-38414247	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1990G>T; p.V664L; 8:38414617-38414617	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1990G>T; p.V664L; 8:38414617-38414617	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1990G>T; p.V664L; 8:38414617-38414617	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1990G>T; p.V664L; 8:38414617-38414617	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.762G>T; p.R254R; 8:38424683-38424683	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1366A>G; p.M456V; 8:38418292-38418292	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1209C>A; p.T403T; 8:38419608-38419608	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1208C>A; p.T403N; 8:38419609-38419609	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2399C>T; p.P800L; 8:38413698-38413698	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2091C>A; p.G697G; 8:38414247-38414247	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.208G>A; p.G70R; 8:38429832-38429832	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1563A>G; p.T521T; 8:38417406-38417406	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1939G>A; p.D647N; 8:38414817-38414817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1333C>T; p.R445W; 8:38418325-38418325	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2091C>T; p.G697G; 8:38414247-38414247	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056C>A; p.H352Q; 8:38421822-38421822	oesophagus	carcinoma	Substitution - Missense
c.1794G>T; p.K598N; 8:38415930-38415930	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1380C>T; p.V460V; 8:38418278-38418278	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.760C>T; p.R254W; 8:38424685-38424685	pancreas	carcinoma	Substitution - Missense
c.1399G>A; p.E467K; 8:38418259-38418259	pancreas	carcinoma	Substitution - Missense
c.2092G>A; p.G698S; 8:38414246-38414246	pancreas	carcinoma	Substitution - Missense
c.1185C>T; p.I395I; 8:38419632-38419632	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.749G>A; p.R250Q; 8:38424696-38424696	pancreas	carcinoma	Substitution - Missense
c.1343G>A; p.R448Q; 8:38418315-38418315	pancreas	carcinoma	Substitution - Missense
c.565C>T; p.R189C; 8:38427977-38427977	prostate	carcinoma	Substitution - Missense
c.1726_1727insC; p.R576fs*80; 8:38415997-38415998	prostate	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1087G>A; p.E363K; 8:38419730-38419730	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.753C>T; p.S251S; 8:38424692-38424692	skin	malignant_melanoma	Substitution - coding silent
c.1343G>T; p.R448L; 8:38418315-38418315	skin	malignant_melanoma	Substitution - Missense
c.59C>T; p.T20I; 8:38457388-38457388	skin	malignant_melanoma	Substitution - Missense
c.1424G>A; p.R475Q; 8:38418234-38418234	skin	malignant_melanoma	Substitution - Missense
c.1158C>T; p.L386L; 8:38419659-38419659	skin	malignant_melanoma	Substitution - coding silent
c.925C>T; p.Q309*; 8:38424520-38424520	skin	malignant_melanoma	Substitution - Nonsense
c.754C>T; p.P252S; 8:38424691-38424691	skin	malignant_melanoma	Substitution - Missense
c.1694C>T; p.S565F; 8:38416030-38416030	skin	malignant_melanoma	Substitution - Missense
c.1774G>A; p.E592K; 8:38415950-38415950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1937_1938GG>AA; p.R646Q; 8:38414818-38414819	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2187-1G>A; p.?; 8:38414024-38414024	skin	malignant_melanoma	Unknown
c.1805C>T; p.S602F; 8:38415919-38415919	skin	malignant_melanoma	Substitution - Missense
c.1307C>T; p.S436F; 8:38418351-38418351	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.136C>T; p.H46Y; 8:38429904-38429904	skin	malignant_melanoma	Substitution - Missense
c.825C>T; p.F275F; 8:38424620-38424620	skin	malignant_melanoma	Substitution - coding silent
c.1382C>T; p.S461F; 8:38418276-38418276	skin	malignant_melanoma	Substitution - Missense
c.1224C>T; p.F408F; 8:38419593-38419593	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.68C>T; p.P23L; 8:38457379-38457379	skin; neck	malignant_melanoma	Substitution - Missense
c.624C>T; p.V208V; 8:38426243-38426243	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.367C>T; p.P123S; 8:38428427-38428427	skin	malignant_melanoma	Substitution - Missense
c.1392G>A; p.E464E; 8:38418266-38418266	skin	malignant_melanoma	Substitution - coding silent
c.1448C>T; p.P483L; 8:38417974-38417974	skin	malignant_melanoma	Substitution - Missense
c.930C>T; p.I310I; 8:38424515-38424515	skin	malignant_melanoma	Substitution - coding silent
c.1255A>G; p.K419E; 8:38419562-38419562	skin	malignant_melanoma	Substitution - Missense
c.2295G>A; p.E765E; 8:38413802-38413802	skin	malignant_melanoma	Substitution - coding silent
c.238C>T; p.R80C; 8:38429802-38429802	skin	malignant_melanoma	Substitution - Missense
c.1638C>A; p.N546K; 8:38417331-38417331	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.842G>A; p.S281N; 8:38424603-38424603	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1261A>G; p.I421V; 8:38419556-38419556	stomach	carcinoma	Substitution - Missense
c.973G>A; p.V325M; 8:38421905-38421905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1424G>A; p.R475Q; 8:38418234-38418234	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.V358I; 8:38421806-38421806	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1055A>G; p.H352R; 8:38421823-38421823	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1339T>C; p.S447P; 8:38418319-38418319	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1596G>T; p.M532I; 8:38417373-38417373	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.748C>T; p.R250W; 8:38424697-38424697	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2009A>G; p.E670G; 8:38414598-38414598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.397G>A; p.D133N; 8:38428397-38428397	stomach	carcinoma	Substitution - Missense
c.1636A>G; p.N546D; 8:38417333-38417333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.145G>T; p.D49Y; 8:38429895-38429895	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1464C>T; p.C488C; 8:38417958-38417958	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071C>T; p.T357T; 8:38421807-38421807	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2218G>A; p.V740M; 8:38413992-38413992	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1484C>T; p.A495V; 8:38417938-38417938	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2265C>T; p.D755D; 8:38413945-38413945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1423C>T; p.R475W; 8:38418235-38418235	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1709G>C; p.R570P; 8:38416015-38416015	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2200C>T; p.R734W; 8:38414010-38414010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.786C>T; p.P262P; 8:38424659-38424659	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1408C>T; p.R470C; 8:38418250-38418250	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1307C>T; p.S436F; 8:38418351-38418351	thyroid	other; neoplasm	Substitution - Missense
c.1057T>A; p.S353T; 8:38421821-38421821	thyroid	other; neoplasm	Substitution - Missense
c.1123C>A; p.L375M; 8:38419694-38419694	thyroid	other; neoplasm	Substitution - Missense
c.222G>A; p.A74A; 8:38429818-38429818	thyroid	carcinoma	Substitution - coding silent
c.1000G>C; p.E334Q; 8:38421878-38421878	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.748C>T; p.R250W; 8:38424697-38424697	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1966A>T; p.K656*; 8:38414790-38414790	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1966A>T; p.K656*; 8:38414790-38414790	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.933G>C; p.L311F; 8:38424512-38424512	urinary_tract; bladder	carcinoma	Substitution - Missense
c.995C>T; p.S332F; 8:38421883-38421883	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2139G>A; p.L713L; 8:38414199-38414199	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1454G>C; p.G485A; 8:38417968-38417968	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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