Entrez Gene

Basic Information
Gene ID	3064
Name	HTT
Synonymous	huntingtin;HTT;huntingtin
Definition	huntington disease protein
Position	4p16.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.939C>T; p.G313G; 4:3116134-3116134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9209C>T; p.A3070V; 4:3238972-3238972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9143C>T; p.P3048L; 4:3238906-3238906	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4807T>A; p.W1603R; 4:3182411-3182411	oesophagus	carcinoma	Substitution - Missense
c.3311C>A; p.S1104Y; 4:3148020-3148020	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6262G>A; p.V2088M; 4:3208882-3208882	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6594G>A; p.P2198P; 4:3212108-3212108	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7258T>A; p.W2420R; 4:3220197-3220197	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.8610C>T; p.T2870T; 4:3235603-3235603	skin	malignant_melanoma	Substitution - coding silent
c.5562G>T; p.V1854V; 4:3199925-3199925	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.397C>T; p.L133L; 4:3099323-3099323	skin	malignant_melanoma	Substitution - coding silent
c.1385G>A; p.S462N; 4:3125612-3125612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5259A>G; p.E1753E; 4:3188984-3188984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7159T>C; p.F2387L; 4:3217869-3217869	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1213A>C; p.T405P; 4:3121372-3121372	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5751G>A; p.T1917T; 4:3206528-3206528	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6724C>T; p.P2242S; 4:3212659-3212659	skin	malignant_melanoma	Substitution - Missense
c.4526A>T; p.Y1509F; 4:3178360-3178360	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.4526A>T; p.Y1509F; 4:3178360-3178360	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.4526A>T; p.Y1509F; 4:3178360-3178360	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.5577-9T>G; p.?; 4:3203998-3203998	liver	carcinoma	Unknown
c.5438A>G; p.Y1813C; 4:3199801-3199801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5159C>A; p.T1720N; 4:3187820-3187820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1699G>A; p.E567K; 4:3127560-3127560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4771G>A; p.V1591I; 4:3182375-3182375	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3998C>G; p.S1333C; 4:3172963-3172963	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4754T>C; p.L1585S; 4:3182358-3182358	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7552G>A; p.V2518M; 4:3223487-3223487	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2091delA; p.N699fs*9; 4:3131390-3131390	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4363C>T; p.L1455L; 4:3175063-3175063	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8816C>T; p.S2939L; 4:3236179-3236179	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3907C>T; p.R1303*; 4:3172362-3172362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.8439C>A; p.N2813K; 4:3233336-3233336	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.364C>T; p.Q122*; 4:3099290-3099290	skin	malignant_melanoma	Substitution - Nonsense
c.4063T>C; p.Y1355H; 4:3173028-3173028	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5905A>G; p.M1969V; 4:3206813-3206813	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.9074G>A; p.S3025N; 4:3238837-3238837	skin	malignant_melanoma	Substitution - Missense
c.4711G>T; p.V1571L; 4:3180613-3180613	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4615A>G; p.I1539V; 4:3180517-3180517	liver	carcinoma	Substitution - Missense
c.4615A>G; p.I1539V; 4:3180517-3180517	liver	carcinoma	Substitution - Missense
c.4055C>T; p.P1352L; 4:3173020-3173020	skin	malignant_melanoma	Substitution - Missense
c.2073G>A; p.S691S; 4:3131372-3131372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8136C>T; p.T2712T; 4:3229913-3229913	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3314T>C; p.L1105P; 4:3148023-3148023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.608+1G>A; p.?; 4:3105437-3105437	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.6869G>T; p.G2290V; 4:3214052-3214052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5084G>A; p.R1695H; 4:3187745-3187745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5913G>A; p.K1971K; 4:3206821-3206821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5125A>T; p.T1709S; 4:3187786-3187786	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.739G>T; p.E247*; 4:3107415-3107415	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1043C>T; p.S348F; 4:3116238-3116238	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5792C>T; p.S1931F; 4:3206569-3206569	skin	malignant_melanoma	Substitution - Missense
c.5376C>T; p.F1792F; 4:3199739-3199739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4644C>A; p.D1548E; 4:3180546-3180546	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1884T>C; p.H628H; 4:3130321-3130321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1843G>A; p.E615K; 4:3130023-3130023	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.803G>A; p.R268Q; 4:3115359-3115359	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.6970G>A; p.E2324K; 4:3215127-3215127	breast	carcinoma	Substitution - Missense
c.692C>T; p.A231V; 4:3107368-3107368	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.7280_7281insT; p.G2429fs*6; 4:3220219-3220220	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.5108C>T; p.P1703L; 4:3187769-3187769	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3189C>T; p.T1063T; 4:3146842-3146842	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.6951C>T; p.A2317A; 4:3214134-3214134	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8942C>T; p.P2981L; 4:3238497-3238497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5868A>T; p.A1956A; 4:3206645-3206645	pancreas	carcinoma	Substitution - coding silent
c.5149G>A; p.G1717R; 4:3187810-3187810	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5033C>T; p.A1678V; 4:3187694-3187694	liver	carcinoma	Substitution - Missense
c.6421A>G; p.N2141D; 4:3211935-3211935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4981A>G; p.N1661D; 4:3186711-3186711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2190C>T; p.F730F; 4:3131729-3131729	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9186C>T; p.S3062S; 4:3238949-3238949	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2085_2086delAG; p.G697fs*39; 4:3131384-3131385	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.5934G>A; p.E1978E; 4:3206842-3206842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1536G>A; p.L512L; 4:3127397-3127397	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.8615C>T; p.S2872F; 4:3235608-3235608	skin	malignant_melanoma	Substitution - Missense
c.4379T>C; p.V1460A; 4:3175079-3175079	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4235G>A; p.R1412H; 4:3174789-3174789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5105C>T; p.S1702F; 4:3187766-3187766	skin	malignant_melanoma	Substitution - Missense
c.5389G>A; p.A1797T; 4:3199752-3199752	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1330C>T; p.L444F; 4:3125557-3125557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8205C>T; p.D2735D; 4:3229982-3229982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4428G>T; p.L1476F; 4:3177352-3177352	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6536C>T; p.T2179I; 4:3212050-3212050	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7201C>T; p.R2401C; 4:3217911-3217911	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9429A>T; p.*3143C; 4:3240059-3240059	endometrium	carcinoma; endometrioid_carcinoma	Nonstop extension
c.7606C>G; p.L2536V; 4:3223541-3223541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2415G>A; p.A805A; 4:3132833-3132833	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1373G>C; p.R458T; 4:3125600-3125600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5256A>C; p.L1752F; 4:3188981-3188981	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9054+1G>T; p.?; 4:3238610-3238610	ovary	carcinoma; serous_carcinoma	Unknown
c.449G>A; p.C150Y; 4:3099375-3099375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7721A>G; p.Y2574C; 4:3224087-3224087	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7203C>T; p.R2401R; 4:3217913-3217913	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5909T>G; p.L1970R; 4:3206817-3206817	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5909T>G; p.L1970R; 4:3206817-3206817	large_intestine; colon	carcinoma	Substitution - Missense
c.104_109delAGCAGC; p.Q37_Q38delQQ; 4:3074929-3074934	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.5909T>G; p.L1970R; 4:3206817-3206817	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7988G>A; p.R2663Q; 4:3228888-3228888	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5833C>T; p.R1945W; 4:3206610-3206610	NS	malignant_melanoma	Substitution - Missense
c.4475C>T; p.A1492V; 4:3178309-3178309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6187C>T; p.R2063C; 4:3208807-3208807	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1601C>T; p.S534F; 4:3127462-3127462	skin	malignant_melanoma	Substitution - Missense
c.6461G>A; p.S2154N; 4:3211975-3211975	oesophagus	carcinoma	Substitution - Missense
c.6187C>T; p.R2063C; 4:3208807-3208807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8433C>T; p.L2811L; 4:3233330-3233330	breast	carcinoma	Substitution - coding silent
c.5970G>A; p.T1990T; 4:3206878-3206878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3411G>A; p.M1137I; 4:3148120-3148120	liver	carcinoma	Substitution - Missense
c.2294G>A; p.R765Q; 4:3132619-3132619	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7339A>T; p.K2447*; 4:3220278-3220278	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5970G>A; p.T1990T; 4:3206878-3206878	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3082G>T; p.A1028S; 4:3145167-3145167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3411G>A; p.M1137I; 4:3148120-3148120	liver	carcinoma	Substitution - Missense
c.9187G>C; p.A3063P; 4:3238950-3238950	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.9219C>T; p.L3073L; 4:3239849-3239849	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.616C>T; p.L206L; 4:3107292-3107292	skin	malignant_melanoma	Substitution - coding silent
c.8983A>C; p.N2995H; 4:3238538-3238538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1366G>A; p.E456K; 4:3125593-3125593	skin	malignant_melanoma	Substitution - Missense
c.2640G>T; p.V880V; 4:3135910-3135910	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.9042C>T; p.T3014T; 4:3238597-3238597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9042C>T; p.T3014T; 4:3238597-3238597	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.6708_6709delCA; p.H2238fs*6; 4:3212643-3212644	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1993C>T; p.R665C; 4:3131292-3131292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1993C>T; p.R665C; 4:3131292-3131292	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8977A>G; p.I2993V; 4:3238532-3238532	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3188C>T; p.T1063I; 4:3146841-3146841	skin	malignant_melanoma	Substitution - Missense
c.8344G>A; p.A2782T; 4:3233241-3233241	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7297C>T; p.P2433S; 4:3220236-3220236	skin	malignant_melanoma	Substitution - Missense
c.4529_4530insT; p.S1511fs*9; 4:3178363-3178364	liver	carcinoma	Insertion - Frameshift
c.1460C>T; p.P487L; 4:3127321-3127321	skin	malignant_melanoma	Substitution - Missense
c.7297C>T; p.P2433S; 4:3220236-3220236	pituitary; craniopharyngeal_duct	craniopharyngioma; papillary	Substitution - Missense
c.7766-1G>A; p.?; 4:3225660-3225660	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.5028T>A; p.I1676I; 4:3187689-3187689	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2994G>T; p.M998I; 4:3142814-3142814	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.7863C>T; p.S2621S; 4:3228629-3228629	skin	malignant_melanoma	Substitution - coding silent
c.2072C>T; p.S691L; 4:3131371-3131371	skin	malignant_melanoma	Substitution - Missense
c.2342G>A; p.S781N; 4:3132667-3132667	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7880G>A; p.S2627N; 4:3228646-3228646	liver	carcinoma	Substitution - Missense
c.7880G>A; p.S2627N; 4:3228646-3228646	liver	carcinoma	Substitution - Missense
c.505G>A; p.E169K; 4:3103860-3103860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8036A>G; p.Y2679C; 4:3228936-3228936	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7880G>A; p.S2627N; 4:3228646-3228646	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7207C>G; p.P2403A; 4:3217917-3217917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7207C>G; p.P2403A; 4:3217917-3217917	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5520G>A; p.L1840L; 4:3199883-3199883	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.271G>T; p.E91*; 4:3086946-3086946	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.271G>T; p.E91*; 4:3086946-3086946	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.504C>A; p.L168L; 4:3103859-3103859	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3988G>C; p.G1330R; 4:3172953-3172953	pancreas	carcinoma	Substitution - Missense
c.7335C>A; p.V2445V; 4:3220274-3220274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4939C>T; p.R1647C; 4:3186669-3186669	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5005G>T; p.V1669F; 4:3187666-3187666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2121G>A; p.V707V; 4:3131660-3131660	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.144T>G; p.P48P; 4:3074969-3074969	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4464-4T>A; p.?; 4:3178294-3178294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.6391A>G; p.M2131V; 4:3209926-3209926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8108C>T; p.S2703F; 4:3229008-3229008	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8108C>T; p.S2703F; 4:3229008-3229008	skin	malignant_melanoma	Substitution - Missense
c.5573C>T; p.P1858L; 4:3199936-3199936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.105G>A; p.Q35Q; 4:3074930-3074930	thyroid	other; neoplasm	Substitution - coding silent
c.4733T>C; p.L1578P; 4:3180635-3180635	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2782G>A; p.A928T; 4:3136310-3136310	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5878C>T; p.R1960C; 4:3206655-3206655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1299T>C; p.P433P; 4:3122914-3122914	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1160C>T; p.P387L; 4:3121319-3121319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.908A>T; p.E303V; 4:3116103-3116103	liver	carcinoma	Substitution - Missense
c.7055A>G; p.N2352S; 4:3217765-3217765	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.7797A>G; p.L2599L; 4:3225692-3225692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.388G>A; p.E130K; 4:3099314-3099314	skin	malignant_melanoma	Substitution - Missense
c.7797A>G; p.L2599L; 4:3225692-3225692	thyroid	other; neoplasm	Substitution - coding silent
c.2023G>A; p.D675N; 4:3131322-3131322	breast	carcinoma	Substitution - Missense
c.6759G>C; p.V2253V; 4:3212694-3212694	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7797A>G; p.L2599L; 4:3225692-3225692	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.908A>T; p.E303V; 4:3116103-3116103	liver	carcinoma	Substitution - Missense
c.7020C>T; p.S2340S; 4:3215177-3215177	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.7317C>T; p.F2439F; 4:3220256-3220256	skin	malignant_melanoma	Substitution - coding silent
c.7317C>T; p.F2439F; 4:3220256-3220256	skin	malignant_melanoma	Substitution - coding silent
c.8258T>C; p.L2753P; 4:3230035-3230035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8451C>T; p.I2817I; 4:3233348-3233348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1587C>T; p.I529I; 4:3127448-3127448	skin	malignant_melanoma	Substitution - coding silent
c.8451C>T; p.I2817I; 4:3233348-3233348	skin	malignant_melanoma	Substitution - coding silent
c.5257G>A; p.E1753K; 4:3188982-3188982	skin; abdomen	malignant_melanoma	Substitution - Missense
c.5754G>A; p.W1918*; 4:3206531-3206531	liver	carcinoma	Substitution - Nonsense
c.5754G>A; p.W1918*; 4:3206531-3206531	liver	carcinoma	Substitution - Nonsense
c.5034C>T; p.A1678A; 4:3187695-3187695	skin	malignant_melanoma	Substitution - coding silent
c.6853G>A; p.A2285T; 4:3214036-3214036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2771G>T; p.R924L; 4:3136299-3136299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3206T>C; p.M1069T; 4:3146859-3146859	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3718C>T; p.H1240Y; 4:3157164-3157164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5740G>A; p.E1914K; 4:3206517-3206517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4934C>T; p.S1645F; 4:3186664-3186664	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4934C>T; p.S1645F; 4:3186664-3186664	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1698C>T; p.T566T; 4:3127559-3127559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5021C>T; p.S1674L; 4:3187682-3187682	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5021C>T; p.S1674L; 4:3187682-3187682	skin	malignant_melanoma	Substitution - Missense
c.8488C>T; p.L2830L; 4:3235315-3235315	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3224C>T; p.S1075L; 4:3146877-3146877	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1668G>A; p.S556S; 4:3127529-3127529	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.7850T>G; p.V2617G; 4:3228616-3228616	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.120A>G; p.P40P; 4:3074945-3074945	thyroid	other; neoplasm	Substitution - coding silent
c.1668G>A; p.S556S; 4:3127529-3127529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4370A>G; p.Q1457R; 4:3175070-3175070	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4935C>T; p.S1645S; 4:3186665-3186665	skin	malignant_melanoma	Substitution - coding silent
c.4822C>A; p.R1608R; 4:3182426-3182426	liver	carcinoma	Substitution - coding silent
c.5230C>A; p.L1744I; 4:3188955-3188955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3547C>T; p.R1183*; 4:3154341-3154341	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.633G>A; p.P211P; 4:3107309-3107309	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6591G>A; p.E2197E; 4:3212105-3212105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4822C>A; p.R1608R; 4:3182426-3182426	liver	carcinoma	Substitution - coding silent
c.1994G>A; p.R665H; 4:3131293-3131293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4307A>G; p.Y1436C; 4:3175007-3175007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3859_3860delGG; p.G1287fs*4; 4:3160387-3160388	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4463+2T>C; p.?; 4:3177389-3177389	pancreas	carcinoma	Unknown
c.8015C>T; p.S2672L; 4:3228915-3228915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7234delC; p.P2413fs*44; 4:3217944-3217944	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2325C>T; p.L775L; 4:3132650-3132650	breast	carcinoma	Substitution - coding silent
c.3918G>A; p.M1306I; 4:3172373-3172373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2257A>G; p.I753V; 4:3132582-3132582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8995G>A; p.G2999R; 4:3238550-3238550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7918_7920delGAG; p.E2643delE; 4:3228684-3228686	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.7755G>A; p.P2585P; 4:3224121-3224121	central_nervous_system; brain	glioma	Substitution - coding silent
c.5397C>T; p.A1799A; 4:3199760-3199760	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1200C>T; p.G400G; 4:3121359-3121359	breast	carcinoma	Substitution - coding silent
c.3190G>A; p.V1064I; 4:3146843-3146843	thyroid	other; neoplasm	Substitution - Missense
c.6764C>T; p.A2255V; 4:3212699-3212699	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4339C>T; p.Q1447*; 4:3175039-3175039	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3358A>G; p.T1120A; 4:3148067-3148067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5927G>T; p.C1976F; 4:3206835-3206835	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5251C>T; p.L1751F; 4:3188976-3188976	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1543T>C; p.C515R; 4:3127404-3127404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.600G>T; p.Q200H; 4:3105428-3105428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8547G>A; p.P2849P; 4:3235374-3235374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6530G>A; p.S2177N; 4:3212044-3212044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1215C>T; p.T405T; 4:3121374-3121374	skin	malignant_melanoma	Substitution - coding silent
c.7980-10T>C; p.?; 4:3228870-3228870	pancreas	carcinoma	Unknown
c.7980-10T>C; p.?; 4:3228870-3228870	pancreas	carcinoma	Unknown
c.4176T>A; p.D1392E; 4:3174730-3174730	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7393G>A; p.E2465K; 4:3222410-3222410	breast	carcinoma	Substitution - Missense
c.1248T>C; p.R416R; 4:3121407-3121407	skin	malignant_melanoma	Substitution - coding silent
c.2293C>T; p.R765*; 4:3132618-3132618	skin	malignant_melanoma	Substitution - Nonsense
c.2293C>T; p.R765*; 4:3132618-3132618	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1258A>G; p.I420V; 4:3121417-3121417	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5263A>G; p.I1755V; 4:3188988-3188988	breast	carcinoma	Substitution - Missense
c.2293C>T; p.R765*; 4:3132618-3132618	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7962G>A; p.T2654T; 4:3228728-3228728	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4581C>T; p.I1527I; 4:3178415-3178415	skin	malignant_melanoma	Substitution - coding silent
c.8107T>C; p.S2703P; 4:3229007-3229007	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.8336G>T; p.R2779M; 4:3233233-3233233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8363A>G; p.Y2788C; 4:3233260-3233260	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5175A>T; p.E1725D; 4:3187836-3187836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4688A>G; p.E1563G; 4:3180590-3180590	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3889C>T; p.L1297L; 4:3172344-3172344	skin	malignant_melanoma	Substitution - coding silent
c.5867C>T; p.A1956V; 4:3206644-3206644	pancreas	carcinoma	Substitution - Missense
c.5777A>G; p.D1926G; 4:3206554-3206554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1116T>C; p.V372V; 4:3121275-3121275	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1546G>C; p.D516H; 4:3127407-3127407	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3880C>T; p.L1294L; 4:3172335-3172335	skin	malignant_melanoma	Substitution - coding silent
c.6630G>T; p.G2210G; 4:3212565-3212565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546G>C; p.D516H; 4:3127407-3127407	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6031C>T; p.L2011F; 4:3206939-3206939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5984G>T; p.R1995M; 4:3206892-3206892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4938C>T; p.L1646L; 4:3186668-3186668	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.977A>T; p.Q326L; 4:3116172-3116172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2889A>G; p.K963K; 4:3140600-3140600	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5192_5195delAAAT; p.I1732fs*20; 4:3187853-3187856	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.4823G>A; p.R1608Q; 4:3182427-3182427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2448G>A; p.K816K; 4:3132866-3132866	skin	malignant_melanoma	Substitution - coding silent
c.8741G>T; p.R2914L; 4:3235734-3235734	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4491C>A; p.I1497I; 4:3178325-3178325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7971C>G; p.V2657V; 4:3228737-3228737	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7753C>T; p.P2585S; 4:3224119-3224119	skin	malignant_melanoma	Substitution - Missense
c.5654A>C; p.K1885T; 4:3204084-3204084	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3590C>T; p.P1197L; 4:3154384-3154384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8284C>T; p.P2762S; 4:3233181-3233181	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5834G>A; p.R1945Q; 4:3206611-3206611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6414G>T; p.S2138S; 4:3209949-3209949	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4234C>T; p.R1412C; 4:3174788-3174788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5834G>A; p.R1945Q; 4:3206611-3206611	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8280G>A; p.A2760A; 4:3233177-3233177	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.809C>T; p.A270V; 4:3115365-3115365	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1898T>C; p.M633T; 4:3130335-3130335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9373C>T; p.P3125S; 4:3240003-3240003	skin	malignant_melanoma	Substitution - Missense
c.4961G>A; p.R1654Q; 4:3186691-3186691	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8828C>T; p.P2943L; 4:3236191-3236191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3558G>T; p.K1186N; 4:3154352-3154352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6860A>T; p.Q2287L; 4:3214043-3214043	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2596A>G; p.T866A; 4:3134503-3134503	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4267C>T; p.R1423C; 4:3174967-3174967	skin; neck	malignant_melanoma	Substitution - Missense
c.1124G>C; p.G375A; 4:3121283-3121283	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3670T>A; p.S1224T; 4:3157116-3157116	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7333G>A; p.V2445I; 4:3220272-3220272	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5111A>G; p.Y1704C; 4:3187772-3187772	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.9207C>T; p.V3069V; 4:3238970-3238970	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.9330G>T; p.R3110S; 4:3239960-3239960	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6239A>C; p.H2080P; 4:3208859-3208859	breast	carcinoma	Substitution - Missense
c.9131C>T; p.T3044M; 4:3238894-3238894	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3522delC; p.P1176fs*3; 4:3154316-3154316	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3802C>T; p.R1268C; 4:3160330-3160330	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.6126C>T; p.Y2042Y; 4:3207331-3207331	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6729T>C; p.P2243P; 4:3212664-3212664	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7243G>A; p.V2415M; 4:3220182-3220182	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2536G>A; p.G846R; 4:3134443-3134443	skin	malignant_melanoma	Substitution - Missense
c.8955C>T; p.D2985D; 4:3238510-3238510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6668G>A; p.R2223Q; 4:3212603-3212603	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4268G>A; p.R1423H; 4:3174968-3174968	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3112G>A; p.V1038I; 4:3145197-3145197	skin	malignant_melanoma	Substitution - Missense
c.8955C>T; p.D2985D; 4:3238510-3238510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3629C>A; p.S1210Y; 4:3157075-3157075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2771G>A; p.R924Q; 4:3136299-3136299	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1581G>T; p.E527D; 4:3127442-3127442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3143+2T>C; p.?; 4:3145230-3145230	stomach	carcinoma; adenocarcinoma	Unknown
c.8389G>A; p.D2797N; 4:3233286-3233286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.348-1G>T; p.?; 4:3099273-3099273	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.6483G>A; p.K2161K; 4:3211997-3211997	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6775G>T; p.A2259S; 4:3213958-3213958	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8389G>A; p.D2797N; 4:3233286-3233286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4686A>G; p.K1562K; 4:3180588-3180588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8546C>T; p.P2849L; 4:3235373-3235373	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4040C>T; p.S1347F; 4:3173005-3173005	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4040C>T; p.S1347F; 4:3173005-3173005	skin	malignant_melanoma	Substitution - Missense
c.8758G>A; p.G2920S; 4:3235751-3235751	liver	carcinoma	Substitution - Missense
c.8758G>A; p.G2920S; 4:3235751-3235751	liver	carcinoma	Substitution - Missense
c.6524G>A; p.R2175H; 4:3212038-3212038	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6524G>A; p.R2175H; 4:3212038-3212038	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5722C>G; p.Q1908E; 4:3206499-3206499	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.405C>T; p.C135C; 4:3099331-3099331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4923G>A; p.L1641L; 4:3186653-3186653	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.7911C>T; p.D2637D; 4:3228677-3228677	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7706C>T; p.A2569V; 4:3224072-3224072	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2373G>C; p.M791I; 4:3132698-3132698	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3359C>T; p.T1120I; 4:3148068-3148068	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1467A>T; p.S489S; 4:3127328-3127328	liver	carcinoma	Substitution - coding silent
c.7911C>T; p.D2637D; 4:3228677-3228677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7939C>T; p.P2647S; 4:3228705-3228705	skin	malignant_melanoma	Substitution - Missense
c.5784C>T; p.I1928I; 4:3206561-3206561	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3509C>G; p.P1170R; 4:3154303-3154303	breast	carcinoma	Substitution - Missense
c.111A>G; p.Q37Q; 4:3074936-3074936	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2456C>G; p.S819C; 4:3132874-3132874	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2005G>T; p.D669Y; 4:3131304-3131304	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5486A>G; p.H1829R; 4:3199849-3199849	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.9285C>T; p.A3095A; 4:3239915-3239915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5717T>C; p.V1906A; 4:3204147-3204147	breast	carcinoma	Substitution - Missense
c.661G>A; p.E221K; 4:3107337-3107337	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4428G>A; p.L1476L; 4:3177352-3177352	breast	carcinoma	Substitution - coding silent
c.5313C>A; p.F1771L; 4:3189038-3189038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8870G>A; p.R2957Q; 4:3236233-3236233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5472C>T; p.S1824S; 4:3199835-3199835	skin	malignant_melanoma	Substitution - coding silent
c.8755C>G; p.L2919V; 4:3235748-3235748	liver	carcinoma	Substitution - Missense
c.5472C>T; p.S1824S; 4:3199835-3199835	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.8356G>A; p.V2786I; 4:3233253-3233253	breast	carcinoma	Substitution - Missense
c.8439C>T; p.N2813N; 4:3233336-3233336	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4686A>C; p.K1562N; 4:3180588-3180588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8356G>A; p.V2786I; 4:3233253-3233253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8356G>A; p.V2786I; 4:3233253-3233253	thyroid	other; neoplasm	Substitution - Missense
c.8356G>A; p.V2786I; 4:3233253-3233253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.8356G>A; p.V2786I; 4:3233253-3233253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3323C>T; p.S1108L; 4:3148032-3148032	skin	malignant_melanoma	Substitution - Missense
c.8356G>A; p.V2786I; 4:3233253-3233253	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4231A>T; p.N1411Y; 4:3174785-3174785	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3849G>T; p.L1283L; 4:3160377-3160377	breast	carcinoma	Substitution - coding silent
c.8195C>T; p.P2732L; 4:3229972-3229972	skin	malignant_melanoma	Substitution - Missense
c.1247G>A; p.R416H; 4:3121406-3121406	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7024G>T; p.E2342*; 4:3215181-3215181	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.6851T>C; p.L2284P; 4:3214034-3214034	liver	carcinoma	Substitution - Missense
c.1764C>G; p.N588K; 4:3129944-3129944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6851T>C; p.L2284P; 4:3214034-3214034	liver	carcinoma	Substitution - Missense
c.2925C>G; p.F975L; 4:3140636-3140636	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6825C>T; p.L2275L; 4:3214008-3214008	skin	malignant_melanoma	Substitution - coding silent
c.9341C>T; p.S3114F; 4:3239971-3239971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3671C>T; p.S1224F; 4:3157117-3157117	skin	malignant_melanoma	Substitution - Missense
c.6756C>T; p.F2252F; 4:3212691-3212691	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3593T>C; p.L1198S; 4:3154387-3154387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6756C>T; p.F2252F; 4:3212691-3212691	skin	malignant_melanoma	Substitution - coding silent
c.5484C>T; p.T1828T; 4:3199847-3199847	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.542G>A; p.R181Q; 4:3105370-3105370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.T227T; 4:3107357-3107357	liver	carcinoma	Substitution - coding silent
c.681C>T; p.T227T; 4:3107357-3107357	liver	carcinoma	Substitution - coding silent
c.5013G>T; p.L1671L; 4:3187674-3187674	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6439C>T; p.P2147S; 4:3211953-3211953	NS	malignant_melanoma	Substitution - Missense
c.3574G>A; p.E1192K; 4:3154368-3154368	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6439C>T; p.P2147S; 4:3211953-3211953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.6439C>T; p.P2147S; 4:3211953-3211953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.4185G>C; p.Q1395H; 4:3174739-3174739	breast	carcinoma	Substitution - Missense
c.8769C>T; p.L2923L; 4:3235762-3235762	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8081C>T; p.A2694V; 4:3228981-3228981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7434G>T; p.Q2478H; 4:3222451-3222451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3617C>T; p.A1206V; 4:3154411-3154411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1576G>A; p.E526K; 4:3127437-3127437	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1911G>A; p.R637R; 4:3130348-3130348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1576G>A; p.E526K; 4:3127437-3127437	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6827A>T; p.Q2276L; 4:3214010-3214010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3291T>C; p.L1097L; 4:3146944-3146944	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4311G>A; p.T1437T; 4:3175011-3175011	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9377A>G; p.Y3126C; 4:3240007-3240007	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4006A>T; p.S1336C; 4:3172971-3172971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8138A>G; p.E2713G; 4:3229915-3229915	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7608G>A; p.L2536L; 4:3223543-3223543	skin	malignant_melanoma	Substitution - coding silent
c.7688C>T; p.S2563L; 4:3224054-3224054	skin	malignant_melanoma	Substitution - Missense
c.994A>G; p.T332A; 4:3116189-3116189	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.6757G>A; p.V2253M; 4:3212692-3212692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7202G>A; p.R2401H; 4:3217912-3217912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1497A>G; p.P499P; 4:3127358-3127358	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6587C>T; p.A2196V; 4:3212101-3212101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8170C>T; p.L2724L; 4:3229947-3229947	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2661A>G; p.A887A; 4:3135931-3135931	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3577C>A; p.Q1193K; 4:3154371-3154371	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2244G>A; p.Q748Q; 4:3132569-3132569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3595A>T; p.S1199C; 4:3154389-3154389	stomach	adenocarcinoma	Substitution - Missense
c.6967G>T; p.G2323*; 4:3215124-3215124	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.8322C>T; p.S2774S; 4:3233219-3233219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4523G>A; p.R1508H; 4:3178357-3178357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4044C>T; p.S1348S; 4:3173009-3173009	skin	malignant_melanoma	Substitution - coding silent
c.2469C>T; p.C823C; 4:3132887-3132887	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8430C>G; p.L2810L; 4:3233327-3233327	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.855A>G; p.Q285Q; 4:3115411-3115411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5850C>T; p.S1950S; 4:3206627-3206627	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5355C>T; p.H1785H; 4:3189080-3189080	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5538C>T; p.T1846T; 4:3199901-3199901	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6549C>T; p.L2183L; 4:3212063-3212063	skin	malignant_melanoma	Substitution - coding silent
c.3548G>A; p.R1183Q; 4:3154342-3154342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.382G>A; p.A128T; 4:3099308-3099308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6549C>T; p.L2183L; 4:3212063-3212063	skin	malignant_melanoma	Substitution - coding silent
c.7585C>T; p.Q2529*; 4:3223520-3223520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1082C>T; p.T361M; 4:3121241-3121241	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4642G>A; p.D1548N; 4:3180544-3180544	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4642G>A; p.D1548N; 4:3180544-3180544	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3626-10A>C; p.?; 4:3157062-3157062	ovary	other; neoplasm	Unknown
c.713C>A; p.S238Y; 4:3107389-3107389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1797G>T; p.Q599H; 4:3129977-3129977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7809C>T; p.P2603P; 4:3225704-3225704	skin	malignant_melanoma	Substitution - coding silent
c.9033C>T; p.F3011F; 4:3238588-3238588	skin	malignant_melanoma	Substitution - coding silent
c.5060C>T; p.S1687L; 4:3187721-3187721	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3758C>T; p.T1253M; 4:3160286-3160286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3239C>T; p.P1080L; 4:3146892-3146892	skin	malignant_melanoma	Substitution - Missense
c.9188C>T; p.A3063V; 4:3238951-3238951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3818T>C; p.V1273A; 4:3160346-3160346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7505C>T; p.A2502V; 4:3223440-3223440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3227C>G; p.S1076*; 4:3146880-3146880	breast	carcinoma	Substitution - Nonsense
c.4813C>T; p.R1605*; 4:3182417-3182417	pancreas	carcinoma; acinar_carcinoma	Substitution - Nonsense
c.4813C>T; p.R1605*; 4:3182417-3182417	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.8965C>T; p.P2989S; 4:3238520-3238520	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4167-1G>A; p.?; 4:3174720-3174720	urinary_tract; bladder	carcinoma	Unknown
c.5946C>G; p.L1982L; 4:3206854-3206854	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.515A>C; p.K172T; 4:3103870-3103870	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8275G>A; p.V2759M; 4:3233172-3233172	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1843G>T; p.E615*; 4:3130023-3130023	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4464-4T>C; p.?; 4:3178294-3178294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4464-4T>C; p.?; 4:3178294-3178294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.8336G>A; p.R2779K; 4:3233233-3233233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7381C>T; p.R2461C; 4:3222398-3222398	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7993G>A; p.G2665R; 4:3228893-3228893	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6268C>G; p.L2090V; 4:3208888-3208888	skin	malignant_melanoma	Substitution - Missense
c.8590T>C; p.S2864P; 4:3235583-3235583	breast	carcinoma	Substitution - Missense
c.7932C>T; p.A2644A; 4:3228698-3228698	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4407+1G>C; p.?; 4:3175108-3175108	prostate	carcinoma; adenocarcinoma	Unknown
c.3440A>C; p.K1147T; 4:3148149-3148149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4749+8G>A; p.?; 4:3180659-3180659	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5182G>A; p.E1728K; 4:3187843-3187843	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.585C>T; p.H195H; 4:3105413-3105413	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.8352C>T; p.H2784H; 4:3233249-3233249	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4675G>A; p.D1559N; 4:3180577-3180577	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1324A>T; p.K442*; 4:3125551-3125551	liver	carcinoma	Substitution - Nonsense
c.7441G>A; p.V2481M; 4:3222458-3222458	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4917G>T; p.E1639D; 4:3186647-3186647	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1727C>T; p.S576L; 4:3127588-3127588	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2180C>T; p.P727L; 4:3131719-3131719	central_nervous_system; brain	glioma	Substitution - Missense
c.5296G>A; p.E1766K; 4:3189021-3189021	breast	carcinoma	Substitution - Missense
c.7411C>T; p.L2471F; 4:3222428-3222428	skin	malignant_melanoma	Substitution - Missense
c.3561G>A; p.E1187E; 4:3154355-3154355	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1958C>T; p.A653V; 4:3130395-3130395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6925T>C; p.Y2309H; 4:3214108-3214108	breast	carcinoma	Substitution - Missense
c.2833G>A; p.G945R; 4:3140544-3140544	pancreas	carcinoma	Substitution - Missense
c.644G>A; p.R215Q; 4:3107320-3107320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4863G>T; p.Q1621H; 4:3182467-3182467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1221T>C; p.A407A; 4:3121380-3121380	skin	malignant_melanoma	Substitution - coding silent
c.6925T>C; p.Y2309H; 4:3214108-3214108	liver	carcinoma	Substitution - Missense
c.5751G>T; p.T1917T; 4:3206528-3206528	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2833G>A; p.G945R; 4:3140544-3140544	pancreas	carcinoma	Substitution - Missense
c.5476A>T; p.I1826F; 4:3199839-3199839	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4170G>C; p.W1390C; 4:3174724-3174724	skin	malignant_melanoma	Substitution - Missense
c.8521G>C; p.E2841Q; 4:3235348-3235348	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1240C>T; p.R414*; 4:3121399-3121399	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.5260G>C; p.D1754H; 4:3188985-3188985	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8055G>A; p.P2685P; 4:3228955-3228955	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.9116C>T; p.S3039F; 4:3238879-3238879	skin	malignant_melanoma	Substitution - Missense
c.1432C>T; p.L478L; 4:3127293-3127293	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3182G>A; p.S1061N; 4:3146835-3146835	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.7348A>G; p.I2450V; 4:3220287-3220287	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6178G>A; p.D2060N; 4:3208798-3208798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2757A>G; p.E919E; 4:3136285-3136285	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.7348A>G; p.I2450V; 4:3220287-3220287	stomach	adenocarcinoma	Substitution - Missense
c.897C>T; p.L299L; 4:3116092-3116092	skin	malignant_melanoma	Substitution - coding silent
c.3801C>T; p.L1267L; 4:3160329-3160329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8041C>T; p.R2681C; 4:3228941-3228941	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3801C>T; p.L1267L; 4:3160329-3160329	breast	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]