Entrez Gene

Basic Information
Gene ID	1080
Name	CFTR
Synonymous	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7);CFTR;cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Definition	cAMP-dependent chloride channel\|channel conductance-controlling ATPase\|cystic fibrosis transmembrane conductance regulator
Position	7q31.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.19.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]