Entrez Gene

Basic Information
Gene ID	1080
Name	CFTR

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.3927G>C; p.Q1309H; 7:117652895-117652895	pancreas	carcinoma	Substitution - Missense
c.3227C>A; p.T1076N; 7:117611668-117611668	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1831A>T; p.K611*; 7:117591998-117591998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3499A>G; p.I1167V; 7:117627552-117627552	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3499A>G; p.I1167V; 7:117627552-117627552	stomach	adenocarcinoma	Substitution - Missense
c.1473T>C; p.C491C; 7:117559544-117559544	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2835G>A; p.S945S; 7:117603709-117603709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2562T>G; p.T854T; 7:117595001-117595001	thyroid	other; neoplasm	Substitution - coding silent
c.2562T>G; p.T854T; 7:117595001-117595001	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1557C>T; p.S519S; 7:117559628-117559628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.323C>A; p.S108Y; 7:117530948-117530948	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3847A>C; p.R1283R; 7:117642567-117642567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1537G>A; p.D513N; 7:117559608-117559608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1664G>T; p.R555I; 7:117587818-117587818	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1197C>T; p.A399A; 7:117542096-117542096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4337G>A; p.R1446K; 7:117667002-117667002	skin	malignant_melanoma	Substitution - Missense
c.497A>T; p.K166M; 7:117534283-117534283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3715A>T; p.R1239W; 7:117627768-117627768	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3985G>T; p.E1329*; 7:117664709-117664709	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2912G>A; p.G971E; 7:117606677-117606677	skin	malignant_melanoma	Substitution - Missense
c.3823G>A; p.D1275N; 7:117642543-117642543	skin	malignant_melanoma	Substitution - Missense
c.3823G>A; p.D1275N; 7:117642543-117642543	skin	malignant_melanoma	Substitution - Missense
c.2912G>A; p.G971E; 7:117606677-117606677	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2912G>A; p.G971E; 7:117606677-117606677	skin	malignant_melanoma	Substitution - Missense
c.1290C>T; p.F430F; 7:117548721-117548721	skin	malignant_melanoma	Substitution - coding silent
c.3718-1G>A; p.?; 7:117642437-117642437	skin	malignant_melanoma	Unknown
c.2771A>G; p.D924G; 7:117603645-117603645	breast	carcinoma	Substitution - Missense
c.2464G>A; p.E822K; 7:117592631-117592631	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3197G>A; p.R1066H; 7:117611638-117611638	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2986C>T; p.Q996*; 7:117606751-117606751	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1117G>A; p.D373N; 7:117542016-117542016	skin	malignant_melanoma	Substitution - Missense
c.2597G>A; p.C866Y; 7:117595036-117595036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3097T>G; p.F1033V; 7:117610627-117610627	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4026G>T; p.G1342G; 7:117664750-117664750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1584G>A; p.E528E; 7:117559655-117559655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2966T>G; p.L989R; 7:117606731-117606731	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.963T>G; p.S321S; 7:117540193-117540193	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.874G>T; p.E292*; 7:117540104-117540104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2685T>C; p.S895S; 7:117603559-117603559	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2928C>A; p.F976L; 7:117606693-117606693	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>T; p.S459F; 7:117548807-117548807	skin	malignant_melanoma	Substitution - Missense
c.687C>G; p.F229L; 7:117535355-117535355	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1410G>A; p.V470V; 7:117559481-117559481	skin	malignant_melanoma	Substitution - coding silent
c.1950C>T; p.F650F; 7:117592117-117592117	skin	malignant_melanoma	Substitution - coding silent
c.116A>G; p.Q39R; 7:117504315-117504315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2703C>T; p.N901N; 7:117603577-117603577	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1950C>T; p.F650F; 7:117592117-117592117	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4434A>G; p.T1478T; 7:117667099-117667099	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3205G>A; p.G1069R; 7:117611646-117611646	oesophagus	carcinoma	Substitution - Missense
c.1891T>C; p.S631P; 7:117592058-117592058	central_nervous_system; brain	glioma	Substitution - Missense
c.3205G>A; p.G1069R; 7:117611646-117611646	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2490G>A; p.K830K; 7:117592657-117592657	skin	malignant_melanoma	Substitution - coding silent
c.1099G>A; p.A367T; 7:117540329-117540329	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2605A>G; p.I869V; 7:117595044-117595044	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1670C>A; p.S557Y; 7:117587824-117587824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2721C>T; p.I907I; 7:117603595-117603595	skin	malignant_melanoma	Substitution - coding silent
c.364T>C; p.Y122H; 7:117530989-117530989	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3196C>T; p.R1066C; 7:117611637-117611637	skin	malignant_melanoma	Substitution - Missense
c.151G>A; p.E51K; 7:117504350-117504350	skin	malignant_melanoma	Substitution - Missense
c.364T>C; p.Y122H; 7:117530989-117530989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2838A>C; p.K946N; 7:117603712-117603712	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2243T>C; p.I748T; 7:117592410-117592410	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3917C>T; p.P1306L; 7:117652885-117652885	skin	malignant_melanoma	Substitution - Missense
c.2975T>C; p.F992S; 7:117606740-117606740	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2443G>T; p.E815*; 7:117592610-117592610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1241A>C; p.Q414P; 7:117548672-117548672	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1001G>A; p.R334Q; 7:117540231-117540231	liver	carcinoma	Substitution - Missense
c.409C>T; p.L137F; 7:117531034-117531034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1085A>C; p.Y362S; 7:117540315-117540315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3546C>T; p.Y1182Y; 7:117627599-117627599	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4297G>A; p.E1433K; 7:117666962-117666962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890G>A; p.R297Q; 7:117540120-117540120	breast	carcinoma	Substitution - Missense
c.4297G>A; p.E1433K; 7:117666962-117666962	pancreas	carcinoma	Substitution - Missense
c.1365G>T; p.A455A; 7:117548796-117548796	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1365G>T; p.A455A; 7:117548796-117548796	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>T; p.A455A; 7:117548796-117548796	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>T; p.A455A; 7:117548796-117548796	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>T; p.A455A; 7:117548796-117548796	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1365G>T; p.A455A; 7:117548796-117548796	thyroid	other; neoplasm	Substitution - coding silent
c.3533C>T; p.S1178L; 7:117627586-117627586	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3533C>T; p.S1178L; 7:117627586-117627586	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4389G>A; p.Q1463Q; 7:117667054-117667054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3447C>A; p.S1149S; 7:117614692-117614692	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.600C>T; p.F200F; 7:117535268-117535268	skin	malignant_melanoma	Substitution - coding silent
c.3454G>C; p.D1152H; 7:117614699-117614699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>T; p.F200F; 7:117535268-117535268	skin	malignant_melanoma	Substitution - coding silent
c.3764C>G; p.S1255*; 7:117642484-117642484	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3229C>T; p.L1077L; 7:117611670-117611670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3890C>G; p.S1297C; 7:117652858-117652858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3808G>T; p.D1270Y; 7:117642528-117642528	prostate	adenoma	Substitution - Missense
c.2240C>T; p.A747V; 7:117592407-117592407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1800G>A; p.R600R; 7:117591967-117591967	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1800G>A; p.R600R; 7:117591967-117591967	skin	malignant_melanoma	Substitution - coding silent
c.3469A>T; p.M1157L; 7:117627522-117627522	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1605G>T; p.E535D; 7:117587759-117587759	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1397C>T; p.S466L; 7:117559468-117559468	skin	malignant_melanoma	Substitution - Missense
c.3647C>A; p.T1216K; 7:117627700-117627700	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3469A>T; p.M1157L; 7:117627522-117627522	breast	carcinoma	Substitution - Missense
c.869+4A>C; p.?; 7:117536677-117536677	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1254T>C; p.N418N; 7:117548685-117548685	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4273G>T; p.D1425Y; 7:117666938-117666938	breast	carcinoma	Substitution - Missense
c.709C>T; p.Q237*; 7:117535377-117535377	skin	malignant_melanoma	Substitution - Nonsense
c.3276C>A; p.Y1092*; 7:117611717-117611717	ovary	other; neoplasm	Substitution - Nonsense
c.3092C>T; p.A1031V; 7:117610622-117610622	central_nervous_system; temporoparietal	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2970C>T; p.T990T; 7:117606735-117606735	skin	malignant_melanoma	Substitution - coding silent
c.709C>T; p.Q237*; 7:117535377-117535377	skin	malignant_melanoma	Substitution - Nonsense
c.709C>T; p.Q237*; 7:117535377-117535377	skin	malignant_melanoma	Substitution - Nonsense
c.3045C>T; p.I1015I; 7:117610575-117610575	skin	malignant_melanoma	Substitution - coding silent
c.3864G>A; p.V1288V; 7:117642584-117642584	skin	malignant_melanoma	Substitution - coding silent
c.3263A>G; p.N1088S; 7:117611704-117611704	skin	malignant_melanoma	Substitution - Missense
c.3864G>A; p.V1288V; 7:117642584-117642584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4427A>G; p.Q1476R; 7:117667092-117667092	liver	carcinoma	Substitution - Missense
c.360G>A; p.A120A; 7:117530985-117530985	skin	malignant_melanoma	Substitution - coding silent
c.3473G>A; p.R1158Q; 7:117627526-117627526	skin	malignant_melanoma	Substitution - Missense
c.826T>A; p.C276S; 7:117536630-117536630	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1884G>A; p.G628G; 7:117592051-117592051	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.360G>A; p.A120A; 7:117530985-117530985	skin	malignant_melanoma	Substitution - coding silent
c.1601C>T; p.A534V; 7:117587755-117587755	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4300A>G; p.R1434G; 7:117666965-117666965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3934G>A; p.D1312N; 7:117652902-117652902	skin	malignant_melanoma	Substitution - Missense
c.3922G>A; p.E1308K; 7:117652890-117652890	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.4213G>A; p.E1405K; 7:117665535-117665535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>A; p.M152I; 7:117531081-117531081	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3534A>C; p.S1178S; 7:117627587-117627587	pancreas	carcinoma	Substitution - coding silent
c.4266G>A; p.R1422R; 7:117666931-117666931	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.690G>A; p.L230L; 7:117535358-117535358	skin	malignant_melanoma	Substitution - coding silent
c.3380G>C; p.G1127A; 7:117614625-117614625	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521C>T; p.P841S; 7:117594960-117594960	pancreas	carcinoma	Substitution - Missense
c.2564T>C; p.V855A; 7:117595003-117595003	ovary	other; neoplasm	Substitution - Missense
c.3883A>T; p.I1295F; 7:117652851-117652851	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2551C>T; p.R851*; 7:117594990-117594990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.346G>A; p.E116K; 7:117530971-117530971	skin	malignant_melanoma	Substitution - Missense
c.357C>G; p.I119M; 7:117530982-117530982	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2024C>T; p.A675V; 7:117592191-117592191	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.P140L; 7:117531044-117531044	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.76A>T; p.K26*; 7:117504275-117504275	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.346G>A; p.E116K; 7:117530971-117530971	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2725A>C; p.S909R; 7:117603599-117603599	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1392G>T; p.K464N; 7:117548823-117548823	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4324A>C; p.S1442R; 7:117666989-117666989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1392G>T; p.K464N; 7:117548823-117548823	thyroid	other; neoplasm	Substitution - Missense
c.2259C>T; p.S753S; 7:117592426-117592426	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392G>T; p.K464N; 7:117548823-117548823	thyroid	other; neoplasm	Substitution - Missense
c.1621C>A; p.L541I; 7:117587775-117587775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.350G>C; p.R117P; 7:117530975-117530975	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3609C>T; p.I1203I; 7:117627662-117627662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2579T>G; p.I860S; 7:117595018-117595018	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162A>G; p.T388A; 7:117542061-117542061	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.962C>T; p.S321F; 7:117540192-117540192	skin	malignant_melanoma	Substitution - Missense
c.4121C>T; p.A1374V; 7:117664845-117664845	central_nervous_system; brain	glioma	Substitution - Missense
c.4146_4154delAATAATTAG; p.I1383_R1385delIIR; 7:117665468-117665476	breast	carcinoma	Deletion - In frame
c.2991_2993delGTT; p.L999del; 7:117610521-117610523	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.2679G>T; p.G893G; 7:117603553-117603553	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3717+5G>C; p.?; 7:117627775-117627775	ovary	other; neoplasm	Unknown
c.2290C>T; p.R764*; 7:117592457-117592457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4367G>T; p.S1456I; 7:117667032-117667032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2290C>T; p.R764*; 7:117592457-117592457	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2523A>T; p.P841P; 7:117594962-117594962	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1256G>T; p.R419I; 7:117548687-117548687	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.E826K; 7:117592643-117592643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476G>A; p.E826K; 7:117592643-117592643	skin	malignant_melanoma	Substitution - Missense
c.2476G>A; p.E826K; 7:117592643-117592643	breast	carcinoma	Substitution - Missense
c.835G>A; p.E279K; 7:117536639-117536639	skin	malignant_melanoma	Substitution - Missense
c.1973G>A; p.R658K; 7:117592140-117592140	skin	malignant_melanoma	Substitution - Missense
c.633C>T; p.L211L; 7:117535301-117535301	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1039C>T; p.R347C; 7:117540269-117540269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.633C>T; p.L211L; 7:117535301-117535301	skin	malignant_melanoma	Substitution - coding silent
c.633C>T; p.L211L; 7:117535301-117535301	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.376G>C; p.G126R; 7:117531001-117531001	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.326A>G; p.Y109C; 7:117530951-117530951	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4108G>C; p.D1370H; 7:117664832-117664832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3087_3088delGA; p.R1030fs*16; 7:117610617-117610618	stomach	adenocarcinoma	Deletion - Frameshift
c.1064C>T; p.P355L; 7:117540294-117540294	skin	malignant_melanoma	Substitution - Missense
c.2073A>T; p.G691G; 7:117592240-117592240	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3994C>T; p.P1332S; 7:117664718-117664718	skin	malignant_melanoma	Substitution - Missense
c.1079C>G; p.T360R; 7:117540309-117540309	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.453G>C; p.Q151H; 7:117531078-117531078	breast	carcinoma	Substitution - Missense
c.2008T>G; p.S670A; 7:117592175-117592175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2552G>A; p.R851Q; 7:117594991-117594991	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3937C>G; p.Q1313E; 7:117652905-117652905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>A; p.Q685K; 7:117592220-117592220	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2094G>T; p.K698N; 7:117592261-117592261	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.11C>T; p.S4L; 7:117480105-117480105	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3338C>T; p.A1113V; 7:117611779-117611779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	thyroid	other; neoplasm	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1040G>A; p.R347H; 7:117540270-117540270	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	thyroid	other; neoplasm	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	thyroid	other; neoplasm	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312A>G; p.T438A; 7:117548743-117548743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1228G>C; p.E410Q; 7:117548659-117548659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3315G>A; p.M1105I; 7:117611756-117611756	skin	malignant_melanoma	Substitution - Missense
c.489+1G>A; p.?; 7:117531115-117531115	skin	malignant_melanoma	Unknown
c.111A>G; p.I37M; 7:117504310-117504310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1997T>G; p.L666*; 7:117592164-117592164	skin; ear	malignant_melanoma	Substitution - Nonsense
c.210T>A; p.I70I; 7:117509079-117509079	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1356_1358delGTT; p.L454delL; 7:117548787-117548789	central_nervous_system; parietal_lobe	glioma; ependymoma	Deletion - In frame
c.1356_1358delGTT; p.L454delL; 7:117548787-117548789	central_nervous_system; fourth_ventricle	glioma; ependymoma	Deletion - In frame
c.1356_1358delGTT; p.L454delL; 7:117548787-117548789	central_nervous_system; fourth_ventricle	glioma; ependymoma	Deletion - In frame
c.1392+5_1392+6insC; p.?; 7:117548828-117548829	liver	carcinoma	Unknown
c.3285A>T; p.T1095T; 7:117611726-117611726	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.704T>G; p.L235R; 7:117535372-117535372	skin	malignant_melanoma	Substitution - Missense
c.1466C>T; p.S489L; 7:117559537-117559537	skin	malignant_melanoma	Substitution - Missense
c.722G>A; p.G241E; 7:117535390-117535390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1004A>T; p.K335I; 7:117540234-117540234	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1699G>A; p.D567N; 7:117590372-117590372	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1466C>T; p.S489L; 7:117559537-117559537	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.725G>A; p.R242K; 7:117535393-117535393	skin	malignant_melanoma	Substitution - Missense
c.722G>A; p.G241E; 7:117535390-117535390	skin	malignant_melanoma	Substitution - Missense
c.2764G>A; p.V922I; 7:117603638-117603638	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1063C>T; p.P355S; 7:117540293-117540293	skin	malignant_melanoma	Substitution - Missense
c.3807C>T; p.I1269I; 7:117642527-117642527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3807C>T; p.I1269I; 7:117642527-117642527	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.662C>T; p.A221V; 7:117535330-117535330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3807C>T; p.I1269I; 7:117642527-117642527	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3807C>T; p.I1269I; 7:117642527-117642527	breast	carcinoma	Substitution - coding silent
c.3807C>T; p.I1269I; 7:117642527-117642527	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1063C>T; p.P355S; 7:117540293-117540293	skin; arm	malignant_melanoma	Substitution - Missense
c.3211C>T; p.Q1071*; 7:117611652-117611652	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.335A>C; p.D112A; 7:117530960-117530960	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3211C>T; p.Q1071*; 7:117611652-117611652	pancreas	carcinoma	Substitution - Nonsense
c.996C>T; p.I332I; 7:117540226-117540226	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.171G>T; p.W57C; 7:117509040-117509040	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1753G>T; p.E585*; 7:117590426-117590426	pancreas	carcinoma	Substitution - Nonsense
c.1753G>T; p.E585*; 7:117590426-117590426	pancreas	carcinoma	Substitution - Nonsense
c.1753G>T; p.E585*; 7:117590426-117590426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3380G>A; p.G1127E; 7:117614625-117614625	skin	malignant_melanoma	Substitution - Missense
c.1500C>A; p.G500G; 7:117559571-117559571	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2908+2T>G; p.?; 7:117603784-117603784	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1580A>G; p.E527G; 7:117559651-117559651	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1475C>T; p.S492F; 7:117559546-117559546	skin	malignant_melanoma	Substitution - Missense
c.3743C>T; p.S1248L; 7:117642463-117642463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1521_1523delCTT; p.F508delF; 7:117559592-117559594	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.1951G>A; p.D651N; 7:117592118-117592118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1521_1523delCTT; p.F508delF; 7:117559592-117559594	central_nervous_system; brain	glioma	Deletion - In frame
c.484A>T; p.K162*; 7:117531109-117531109	skin	malignant_melanoma	Substitution - Nonsense
c.704T>C; p.L235P; 7:117535372-117535372	thyroid	carcinoma	Substitution - Missense
c.3743C>T; p.S1248L; 7:117642463-117642463	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1532C>T; p.S511F; 7:117559603-117559603	skin	malignant_melanoma	Substitution - Missense
c.446G>A; p.G149E; 7:117531071-117531071	skin	malignant_melanoma	Substitution - Missense
c.1532C>T; p.S511F; 7:117559603-117559603	skin	malignant_melanoma	Substitution - Missense
c.702C>T; p.A234A; 7:117535370-117535370	skin	malignant_melanoma	Substitution - coding silent
c.992T>C; p.I331T; 7:117540222-117540222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4352C>T; p.P1451L; 7:117667017-117667017	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2840T>G; p.I947S; 7:117603714-117603714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3568G>C; p.V1190L; 7:117627621-117627621	breast	carcinoma	Substitution - Missense
c.288A>T; p.A96A; 7:117530913-117530913	prostate	carcinoma	Substitution - coding silent
c.3894A>G; p.G1298G; 7:117652862-117652862	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1240C>A; p.Q414K; 7:117548671-117548671	breast	carcinoma	Substitution - Missense
c.1693G>T; p.D565Y; 7:117590366-117590366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.I269I; 7:117536611-117536611	skin	malignant_melanoma	Substitution - coding silent
c.273G>A; p.G91G; 7:117509142-117509142	skin	malignant_melanoma	Substitution - coding silent
c.4347C>A; p.L1449L; 7:117667012-117667012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1624G>A; p.G542R; 7:117587778-117587778	skin	malignant_melanoma	Substitution - Missense
c.793A>C; p.M265L; 7:117536597-117536597	skin; ear	malignant_melanoma	Substitution - Missense
c.3587C>A; p.S1196*; 7:117627640-117627640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2126G>A; p.R709Q; 7:117592293-117592293	skin	malignant_melanoma	Substitution - Missense
c.2548C>T; p.L850F; 7:117594987-117594987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2548C>T; p.L850F; 7:117594987-117594987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1726G>A; p.G576R; 7:117590399-117590399	skin	malignant_melanoma	Substitution - Missense
c.1665A>C; p.R555S; 7:117587819-117587819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2679G>A; p.G893G; 7:117603553-117603553	skin	malignant_melanoma	Substitution - coding silent
c.3140G>A; p.G1047D; 7:117611581-117611581	skin	malignant_melanoma	Substitution - Missense
c.1408G>A; p.V470M; 7:117559479-117559479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.609C>T; p.I203I; 7:117535277-117535277	skin	malignant_melanoma	Substitution - coding silent
c.2647C>T; p.L883F; 7:117602853-117602853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1826A>T; p.H609L; 7:117591993-117591993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3267G>C; p.W1089C; 7:117611708-117611708	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3856T>C; p.F1286L; 7:117642576-117642576	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1861G>A; p.E621K; 7:117592028-117592028	skin	malignant_melanoma	Substitution - Missense
c.3070G>A; p.V1024M; 7:117610600-117610600	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.1899C>T; p.L633L; 7:117592066-117592066	skin	malignant_melanoma	Substitution - coding silent
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	thyroid	other; neoplasm	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	thyroid	other; neoplasm	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1585G>A; p.D529N; 7:117587739-117587739	skin	malignant_melanoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	large_intestine	adenoma	Substitution - Missense
c.1265C>T; p.S422F; 7:117548696-117548696	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2514G>A; p.E838E; 7:117594953-117594953	skin	malignant_melanoma	Substitution - coding silent
c.3099C>T; p.F1033F; 7:117610629-117610629	skin	malignant_melanoma	Substitution - coding silent
c.989G>A; p.G330E; 7:117540219-117540219	skin	malignant_melanoma	Substitution - Missense
c.989G>A; p.G330E; 7:117540219-117540219	skin	malignant_melanoma	Substitution - Missense
c.989G>A; p.G330E; 7:117540219-117540219	skin	malignant_melanoma	Substitution - Missense
c.3091G>A; p.A1031T; 7:117610621-117610621	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1484C>T; p.S495F; 7:117559555-117559555	skin	malignant_melanoma	Substitution - Missense
c.613C>T; p.P205S; 7:117535281-117535281	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2869C>T; p.L957F; 7:117603743-117603743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.613C>T; p.P205S; 7:117535281-117535281	skin	malignant_melanoma	Substitution - Missense
c.2869C>T; p.L957F; 7:117603743-117603743	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2491G>C; p.E831Q; 7:117594930-117594930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.704T>A; p.L235H; 7:117535372-117535372	ovary	other; neoplasm	Substitution - Missense
c.1484C>T; p.S495F; 7:117559555-117559555	skin	malignant_melanoma	Substitution - Missense
c.4091C>T; p.A1364V; 7:117664815-117664815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.V520I; 7:117559629-117559629	pancreas	carcinoma	Substitution - Missense
c.3605A>G; p.D1202G; 7:117627658-117627658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.51C>T; p.F17F; 7:117480145-117480145	skin	malignant_melanoma	Substitution - coding silent
c.4091C>T; p.A1364V; 7:117664815-117664815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.V520I; 7:117559629-117559629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4020G>A; p.V1340V; 7:117664744-117664744	skin	malignant_melanoma	Substitution - coding silent
c.273+5G>A; p.?; 7:117509147-117509147	liver	carcinoma	Unknown
c.1738G>A; p.V580I; 7:117590411-117590411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.273+5G>A; p.?; 7:117509147-117509147	liver	carcinoma	Unknown
c.1117-1G>T; p.?; 7:117542015-117542015	liver	carcinoma	Unknown
c.3467T>G; p.L1156W; 7:117614712-117614712	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1658G>C; p.R553P; 7:117587812-117587812	breast	carcinoma	Substitution - Missense
c.2323C>T; p.H775Y; 7:117592490-117592490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4351C>T; p.P1451S; 7:117667016-117667016	skin	malignant_melanoma	Substitution - Missense
c.4351C>T; p.P1451S; 7:117667016-117667016	skin	malignant_melanoma	Substitution - Missense
c.1117-1G>T; p.?; 7:117542015-117542015	liver	carcinoma	Unknown
c.3554G>A; p.G1185D; 7:117627607-117627607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2291G>A; p.R764Q; 7:117592458-117592458	skin	malignant_melanoma	Substitution - Missense
c.334G>A; p.D112N; 7:117530959-117530959	skin	malignant_melanoma	Substitution - Missense
c.630C>T; p.L210L; 7:117535298-117535298	skin	malignant_melanoma	Substitution - coding silent
c.1979C>A; p.S660*; 7:117592146-117592146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.244A>T; p.M82L; 7:117509113-117509113	skin	malignant_melanoma	Substitution - Missense
c.2454G>A; p.L818L; 7:117592621-117592621	skin	malignant_melanoma	Substitution - coding silent
c.4264C>T; p.R1422W; 7:117666929-117666929	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1158C>G; p.N386K; 7:117542057-117542057	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.605_613delGGATCGCTC; p.W202_P205>S; 7:117535273-117535281	stomach	carcinoma; diffuse_adenocarcinoma	Complex - deletion inframe
c.1487G>A; p.W496*; 7:117559558-117559558	skin	malignant_melanoma	Substitution - Nonsense
c.1460G>T; p.R487I; 7:117559531-117559531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3758T>C; p.L1253S; 7:117642478-117642478	breast	carcinoma	Substitution - Missense
c.2587C>T; p.L863L; 7:117595026-117595026	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4273G>A; p.D1425N; 7:117666938-117666938	skin	malignant_melanoma	Substitution - Missense
c.2041G>C; p.E681Q; 7:117592208-117592208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3603T>A; p.D1201E; 7:117627656-117627656	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.879G>A; p.L293L; 7:117540109-117540109	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2092A>G; p.K698E; 7:117592259-117592259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2497T>C; p.F833L; 7:117594936-117594936	thyroid	carcinoma	Substitution - Missense
c.1931T>C; p.L644P; 7:117592098-117592098	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3514G>A; p.E1172K; 7:117627567-117627567	central_nervous_system; brain	glioma	Substitution - Missense
c.729G>A; p.M243I; 7:117535397-117535397	skin	malignant_melanoma	Substitution - Missense
c.4309T>C; p.F1437L; 7:117666974-117666974	liver	carcinoma	Substitution - Missense
c.4309T>C; p.F1437L; 7:117666974-117666974	liver	carcinoma	Substitution - Missense
c.729G>A; p.M243I; 7:117535397-117535397	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1091C>T; p.S364F; 7:117540321-117540321	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3794G>A; p.G1265E; 7:117642514-117642514	skin; trunk	malignant_melanoma	Substitution - Missense
c.1979C>G; p.S660*; 7:117592146-117592146	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393-5T>A; p.?; 7:117559459-117559459	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4123C>T; p.H1375Y; 7:117664847-117664847	skin	malignant_melanoma	Substitution - Missense
c.1470C>T; p.F490F; 7:117559541-117559541	skin	malignant_melanoma	Substitution - coding silent
c.2641C>T; p.L881L; 7:117602847-117602847	skin	malignant_melanoma	Substitution - coding silent
c.289G>T; p.V97L; 7:117530914-117530914	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3455A>C; p.D1152A; 7:117614700-117614700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.436C>T; p.H146Y; 7:117531061-117531061	skin	malignant_melanoma	Substitution - Missense
c.3916C>T; p.P1306S; 7:117652884-117652884	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1390A>T; p.K464*; 7:117548821-117548821	breast	carcinoma	Substitution - Nonsense
c.2735C>T; p.S912L; 7:117603609-117603609	skin	malignant_melanoma	Substitution - Missense
c.2913G>A; p.G971G; 7:117606678-117606678	skin	malignant_melanoma	Substitution - coding silent
c.2284C>T; p.Q762*; 7:117592451-117592451	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3425C>T; p.T1142I; 7:117614670-117614670	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.172G>A; p.D58N; 7:117509041-117509041	skin	malignant_melanoma	Substitution - Missense
c.2148G>T; p.K716N; 7:117592315-117592315	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1345G>C; p.E449Q; 7:117548776-117548776	breast	carcinoma	Substitution - Missense
c.3159T>G; p.T1053T; 7:117611600-117611600	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2538G>A; p.W846*; 7:117594977-117594977	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2988+2T>C; p.?; 7:117606755-117606755	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4383G>T; p.K1461N; 7:117667048-117667048	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.549C>T; p.L183L; 7:117534335-117534335	skin	malignant_melanoma	Substitution - coding silent
c.303A>T; p.L101F; 7:117530928-117530928	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.308G>A; p.G103E; 7:117530933-117530933	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.379T>G; p.L127V; 7:117531004-117531004	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2454delG; p.E819fs*2; 7:117592621-117592621	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3601G>T; p.D1201Y; 7:117627654-117627654	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1518C>T; p.I506I; 7:117559589-117559589	pancreas	carcinoma	Substitution - coding silent
c.3472C>T; p.R1158*; 7:117627525-117627525	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1055G>A; p.R352Q; 7:117540285-117540285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.165-1G>T; p.?; 7:117509033-117509033	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2678G>T; p.G893V; 7:117603552-117603552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1747G>A; p.E583K; 7:117590420-117590420	skin	malignant_melanoma	Substitution - Missense
c.1747G>A; p.E583K; 7:117590420-117590420	skin	malignant_melanoma	Substitution - Missense
c.4257C>A; p.N1419K; 7:117666922-117666922	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.360G>T; p.A120A; 7:117530985-117530985	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.945C>T; p.F315F; 7:117540175-117540175	skin	malignant_melanoma	Substitution - coding silent
c.2365G>T; p.A789S; 7:117592532-117592532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2365G>T; p.A789S; 7:117592532-117592532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.945C>T; p.F315F; 7:117540175-117540175	skin	malignant_melanoma	Substitution - coding silent
c.52A>G; p.S18G; 7:117480146-117480146	prostate	carcinoma	Substitution - Missense
c.227_228insT; p.W79fs*32; 7:117509096-117509097	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3289C>T; p.R1097C; 7:117611730-117611730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2677G>A; p.G893R; 7:117603551-117603551	skin	malignant_melanoma	Substitution - Missense
c.322T>C; p.S108P; 7:117530947-117530947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2955C>T; p.D985D; 7:117606720-117606720	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4379C>T; p.S1460F; 7:117667044-117667044	skin	malignant_melanoma	Substitution - Missense
c.2762G>A; p.G921E; 7:117603636-117603636	skin	malignant_melanoma	Substitution - Missense
c.1478A>C; p.Q493P; 7:117559549-117559549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2955C>T; p.D985D; 7:117606720-117606720	oesophagus	carcinoma	Substitution - coding silent
c.1833G>C; p.K611N; 7:117592000-117592000	breast	carcinoma	Substitution - Missense
c.2935G>A; p.D979N; 7:117606700-117606700	skin	malignant_melanoma	Substitution - Missense
c.4254G>T; p.E1418D; 7:117666919-117666919	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4254G>T; p.E1418D; 7:117666919-117666919	skin	malignant_melanoma	Substitution - Missense
c.859A>C; p.N287H; 7:117536663-117536663	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1094T>C; p.L365P; 7:117540324-117540324	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1822G>A; p.E608K; 7:117591989-117591989	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2619+1G>A; p.?; 7:117595059-117595059	lung	carcinoma; small_cell_carcinoma	Unknown
c.3333C>G; p.F1111L; 7:117611774-117611774	breast	carcinoma	Substitution - Missense
c.2578A>C; p.I860L; 7:117595017-117595017	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>T; p.F229F; 7:117535355-117535355	skin	malignant_melanoma	Substitution - coding silent
c.1979C>T; p.S660L; 7:117592146-117592146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.299T>G; p.L100R; 7:117530924-117530924	skin	malignant_melanoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	thyroid	other; neoplasm	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	thyroid	other; neoplasm	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	thyroid	other; neoplasm	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.N417K; 7:117548682-117548682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2883G>T; p.M961I; 7:117603757-117603757	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1661C>A; p.A554E; 7:117587815-117587815	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2262G>A; p.V754V; 7:117592429-117592429	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1225T>C; p.F409L; 7:117548656-117548656	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2172C>T; p.I724I; 7:117592339-117592339	skin	malignant_melanoma	Substitution - coding silent
c.2172C>T; p.I724I; 7:117592339-117592339	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2172C>T; p.I724I; 7:117592339-117592339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2746T>A; p.F916I; 7:117603620-117603620	NS	NS	Substitution - Missense
c.3460G>A; p.D1154N; 7:117614705-117614705	breast	carcinoma	Substitution - Missense
c.3310G>T; p.E1104*; 7:117611751-117611751	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2067G>A; p.Q689Q; 7:117592234-117592234	skin	malignant_melanoma	Substitution - coding silent
c.2494T>G; p.C832G; 7:117594933-117594933	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3058G>A; p.V1020M; 7:117610588-117610588	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1413T>G; p.I471M; 7:117559484-117559484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1133A>G; p.Q378R; 7:117542032-117542032	stomach	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database