Entrez Gene

Basic Information
Gene ID	5796
Name	PTPRK
Synonymous	protein tyrosine phosphatase, receptor type, K;PTPRK;protein tyrosine phosphatase, receptor type, K
Definition	dJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappa\|protein-tyrosine phosphatase kappa\|protein-tyrosine phosphatase, receptor type, kappa\|receptor-type tyrosine
Position	6q22.2-q22.3
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 0.14.

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.3133C>T; p.H1045Y; 6:127985839-127985839	NS	malignant_melanoma	Substitution - Missense
c.3133C>T; p.H1045Y; 6:127985839-127985839	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2066A>T; p.D689V; 6:128067610-128067610	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3912T>C; p.S1304S; 6:127976714-127976714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3133C>T; p.H1045Y; 6:127985839-127985839	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.305A>C; p.D102A; 6:128322229-128322229	skin	malignant_melanoma	Substitution - Missense
c.1220C>T; p.A407V; 6:128089935-128089935	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2052G>A; p.P684P; 6:128067624-128067624	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1296C>T; p.F432F; 6:128089859-128089859	skin	malignant_melanoma	Substitution - coding silent
c.3039G>T; p.T1013T; 6:127990826-127990826	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.644A>G; p.Q215R; 6:128240084-128240084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.926T>C; p.L309P; 6:128184668-128184668	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2635C>T; p.L879F; 6:127998764-127998764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3015A>T; p.E1005D; 6:127990850-127990850	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3407A>G; p.H1136R; 6:127982961-127982961	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.26T>C; p.L9P; 6:128520333-128520333	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1698G>T; p.T566T; 6:128082516-128082516	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3529G>T; p.E1177*; 6:127982839-127982839	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.3043G>A; p.V1015I; 6:127990822-127990822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2538C>T; p.D846D; 6:127998861-127998861	pancreas	carcinoma	Substitution - coding silent
c.3844-1G>C; p.?; 6:127976783-127976783	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.3233C>T; p.P1078L; 6:127985739-127985739	skin	malignant_melanoma	Substitution - Missense
c.2522C>A; p.S841Y; 6:127998877-127998877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3038C>T; p.T1013M; 6:127990827-127990827	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3095G>T; p.R1032M; 6:127990770-127990770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4091A>G; p.E1364G; 6:127973706-127973706	skin; ear	malignant_melanoma	Substitution - Missense
c.2744_2745insA; p.N915fs*10; 6:127996923-127996924	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.235A>C; p.I79L; 6:128322299-128322299	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3265C>T; p.R1089*; 6:127983364-127983364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2330_2331insA; p.S778fs*5; 6:128009132-128009133	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3472G>A; p.A1158T; 6:127982896-127982896	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1490C>G; p.S497C; 6:128083800-128083800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3265C>T; p.R1089*; 6:127983364-127983364	skin	malignant_melanoma	Substitution - Nonsense
c.2147G>T; p.S716I; 6:128067529-128067529	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.R256K; 6:128219023-128219023	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4148G>A; p.R1383Q; 6:127973143-127973143	skin	malignant_melanoma	Substitution - Missense
c.1652G>A; p.W551*; 6:128082562-128082562	skin	malignant_melanoma	Substitution - Nonsense
c.4148G>A; p.R1383Q; 6:127973143-127973143	skin	malignant_melanoma	Substitution - Missense
c.4148G>A; p.R1383Q; 6:127973143-127973143	skin	malignant_melanoma	Substitution - Missense
c.3624G>A; p.M1208I; 6:127981203-127981203	skin	malignant_melanoma	Substitution - Missense
c.594C>T; p.F198F; 6:128240134-128240134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2230C>T; p.P744S; 6:128009233-128009233	skin	malignant_melanoma	Substitution - Missense
c.3880C>T; p.R1294*; 6:127976746-127976746	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4037C>A; p.P1346H; 6:127973760-127973760	breast	carcinoma	Substitution - Missense
c.2999G>A; p.W1000*; 6:127990866-127990866	skin	malignant_melanoma	Substitution - Nonsense
c.428G>C; p.G143A; 6:128322106-128322106	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3030C>A; p.F1010L; 6:127990835-127990835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4268C>T; p.P1423L; 6:127973023-127973023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4028G>A; p.R1343Q; 6:127973769-127973769	skin	malignant_melanoma	Substitution - Missense
c.1542T>G; p.P514P; 6:128083748-128083748	liver	carcinoma	Substitution - coding silent
c.1947G>A; p.M649I; 6:128067729-128067729	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1912C>T; p.H638Y; 6:128067764-128067764	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2050_2051CC>TT; p.P684L; 6:128067625-128067626	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1255C>T; p.R419C; 6:128089900-128089900	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3839C>T; p.S1280F; 6:127976927-127976927	skin	malignant_melanoma	Substitution - Missense
c.3940C>T; p.R1314W; 6:127976686-127976686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3839C>T; p.S1280F; 6:127976927-127976927	skin	malignant_melanoma	Substitution - Missense
c.220C>G; p.Q74E; 6:128397569-128397569	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2443G>A; p.E815K; 6:128005135-128005135	skin	malignant_melanoma	Substitution - Missense
c.814A>T; p.T272S; 6:128218976-128218976	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2905G>A; p.D969N; 6:127991368-127991368	skin	malignant_melanoma	Substitution - Missense
c.1072G>A; p.E358K; 6:128184522-128184522	skin	malignant_melanoma	Substitution - Missense
c.706G>T; p.E236*; 6:128219084-128219084	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.706G>T; p.E236*; 6:128219084-128219084	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4012G>A; p.G1338R; 6:127973785-127973785	skin	malignant_melanoma	Substitution - Missense
c.1072G>A; p.E358K; 6:128184522-128184522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.E358K; 6:128184522-128184522	skin	malignant_melanoma	Substitution - Missense
c.2744A>C; p.N915T; 6:127996924-127996924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4147C>A; p.R1383R; 6:127973144-127973144	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2051C>G; p.P684R; 6:128067625-128067625	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2859A>T; p.P953P; 6:127992695-127992695	liver	carcinoma	Substitution - coding silent
c.1510G>T; p.E504*; 6:128083780-128083780	breast	carcinoma	Substitution - Nonsense
c.2859A>T; p.P953P; 6:127992695-127992695	liver	carcinoma	Substitution - coding silent
c.3525_3526GG>AA; p.K1175>?; 6:127982842-127982843	lung	carcinoma; adenocarcinoma	Complex
c.4027C>T; p.R1343*; 6:127973770-127973770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3947T>A; p.F1316Y; 6:127976679-127976679	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3843G>T; p.Q1281H; 6:127976923-127976923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1264A>G; p.T422A; 6:128089891-128089891	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1317G>A; p.K439K; 6:128089838-128089838	skin	malignant_melanoma	Substitution - coding silent
c.2606_2607GG>TT; p.R869>?; 6:127998792-127998793	lung	carcinoma; small_cell_carcinoma	Complex
c.1323C>T; p.D441D; 6:128089832-128089832	skin	malignant_melanoma	Substitution - coding silent
c.1549C>T; p.P517S; 6:128083741-128083741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3571G>A; p.E1191K; 6:127981256-127981256	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2304C>T; p.L768L; 6:128009159-128009159	skin	malignant_melanoma	Substitution - coding silent
c.1805T>C; p.V602A; 6:128078891-128078891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2422G>T; p.D808Y; 6:128005156-128005156	liver	carcinoma	Substitution - Missense
c.1696A>T; p.T566S; 6:128082518-128082518	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2512A>G; p.T838A; 6:127998887-127998887	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2098C>T; p.P700S; 6:128067578-128067578	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1014A>T; p.T338T; 6:128184580-128184580	kidney	other; neoplasm	Substitution - coding silent
c.627G>A; p.G209G; 6:128240101-128240101	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3016G>A; p.V1006I; 6:127990849-127990849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2979+1G>A; p.?; 6:127991293-127991293	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.933A>G; p.Q311Q; 6:128184661-128184661	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1276A>C; p.T426P; 6:128089879-128089879	skin	malignant_melanoma	Substitution - Missense
c.2434C>G; p.L812V; 6:128005144-128005144	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4267_4268CC>TT; p.P1423L; 6:127973023-127973024	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3736A>T; p.I1246F; 6:127977030-127977030	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2724_2725insA; p.D909fs*4; 6:127996943-127996944	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.4199A>C; p.Q1400P; 6:127973092-127973092	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.3605A>G; p.H1202R; 6:127981222-127981222	liver	carcinoma	Substitution - Missense
c.3605A>G; p.H1202R; 6:127981222-127981222	liver	carcinoma	Substitution - Missense
c.3365G>A; p.R1122H; 6:127983264-127983264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.A582V; 6:128082469-128082469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2194G>C; p.A732P; 6:128064758-128064758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2144G>A; p.S715N; 6:128067532-128067532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4077G>A; p.V1359V; 6:127973720-127973720	skin	malignant_melanoma	Substitution - coding silent
c.3066A>G; p.E1022E; 6:127990799-127990799	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2030G>A; p.G677E; 6:128067646-128067646	skin	malignant_melanoma	Substitution - Missense
c.1435G>T; p.E479*; 6:128089720-128089720	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2030G>A; p.G677E; 6:128067646-128067646	skin	malignant_melanoma	Substitution - Missense
c.397C>A; p.P133T; 6:128322137-128322137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.223G>T; p.G75C; 6:128397566-128397566	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3007G>A; p.D1003N; 6:127990858-127990858	skin	malignant_melanoma	Substitution - Missense
c.2366G>A; p.G789E; 6:128005212-128005212	skin	malignant_melanoma	Substitution - Missense
c.3136T>A; p.F1046I; 6:127985836-127985836	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2022C>A; p.L674L; 6:128067654-128067654	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2022C>A; p.L674L; 6:128067654-128067654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2022C>A; p.L674L; 6:128067654-128067654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3931G>A; p.V1311M; 6:127976695-127976695	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.229T>C; p.Y77H; 6:128322305-128322305	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3912T>A; p.S1304S; 6:127976714-127976714	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1354C>T; p.H452Y; 6:128089801-128089801	liver	carcinoma	Substitution - Missense
c.1143C>A; p.I381I; 6:128184451-128184451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1143C>T; p.I381I; 6:128184451-128184451	skin	malignant_melanoma	Substitution - coding silent
c.2769T>G; p.Y923*; 6:127995537-127995537	skin	malignant_melanoma	Substitution - Nonsense
c.4069C>A; p.L1357I; 6:127973728-127973728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1741C>T; p.P581S; 6:128082473-128082473	skin	malignant_melanoma	Substitution - Missense
c.947C>A; p.S316*; 6:128184647-128184647	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3569C>T; p.A1190V; 6:127981258-127981258	skin	malignant_melanoma	Substitution - Missense
c.3964A>T; p.T1322S; 6:127976662-127976662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2558A>T; p.E853V; 6:127998841-127998841	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1840A>G; p.T614A; 6:128078856-128078856	skin	malignant_melanoma	Substitution - Missense
c.4146G>A; p.G1382G; 6:127973145-127973145	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.757G>A; p.A253T; 6:128219033-128219033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.207A>C; p.P69P; 6:128397582-128397582	breast	carcinoma	Substitution - coding silent
c.757G>A; p.A253T; 6:128219033-128219033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3897A>C; p.Q1299H; 6:127976729-127976729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227C>T; p.S76F; 6:128322307-128322307	skin	malignant_melanoma	Substitution - Missense
c.227C>T; p.S76F; 6:128322307-128322307	skin	malignant_melanoma	Substitution - Missense
c.358C>T; p.P120S; 6:128322176-128322176	skin	malignant_melanoma	Substitution - Missense
c.285G>T; p.L95L; 6:128322249-128322249	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.478delT; p.W160fs*7; 6:128322056-128322056	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.383G>C; p.R128T; 6:128322151-128322151	kidney	other; neoplasm	Substitution - Missense
c.3102delG; p.Y1035fs*61; 6:127985870-127985870	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3881G>T; p.R1294L; 6:127976745-127976745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3109G>A; p.E1037K; 6:127985863-127985863	skin	malignant_melanoma	Substitution - Missense
c.451C>T; p.R151W; 6:128322083-128322083	skin	malignant_melanoma	Substitution - Missense
c.4107G>T; p.G1369G; 6:127973690-127973690	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2977C>T; p.R993W; 6:127991296-127991296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2767+2T>C; p.?; 6:127996899-127996899	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2116G>A; p.G706R; 6:128067560-128067560	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1860A>G; p.A620A; 6:128078836-128078836	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.758C>T; p.A253V; 6:128219032-128219032	skin	malignant_melanoma	Substitution - Missense
c.2659G>A; p.G887R; 6:127998740-127998740	skin; mucosal	malignant_melanoma	Substitution - Missense
c.804T>G; p.Y268*; 6:128218986-128218986	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.2361C>T; p.A787A; 6:128005217-128005217	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1371_1372insG; p.P458fs*22; 6:128089783-128089784	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Insertion - Frameshift
c.115G>A; p.D39N; 6:128397674-128397674	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2886C>T; p.P962P; 6:127991387-127991387	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2886C>T; p.P962P; 6:127991387-127991387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.310C>T; p.H104Y; 6:128322224-128322224	skin	malignant_melanoma	Substitution - Missense
c.3361C>T; p.R1121W; 6:127983268-127983268	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4205T>A; p.V1402D; 6:127973086-127973086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4114C>T; p.R1372W; 6:127973683-127973683	central_nervous_system; brain	glioma	Substitution - Missense
c.2174G>A; p.C725Y; 6:128064778-128064778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4209C>T; p.V1403V; 6:127973082-127973082	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1798G>A; p.E600K; 6:128078898-128078898	skin	malignant_melanoma	Substitution - Missense
c.1796A>G; p.Y599C; 6:128078900-128078900	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3659_3660insT; p.L1220fs*5; 6:127981167-127981168	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1888T>C; p.Y630H; 6:128067788-128067788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1982C>T; p.A661V; 6:128067694-128067694	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2708G>C; p.W903S; 6:127996960-127996960	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1162+2T>C; p.?; 6:128184430-128184430	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1015G>A; p.E339K; 6:128184579-128184579	skin	malignant_melanoma	Substitution - Missense
c.128G>T; p.G43V; 6:128397661-128397661	ovary	other; neoplasm	Substitution - Missense
c.3049A>G; p.M1017V; 6:127990816-127990816	liver	carcinoma	Substitution - Missense
c.3738C>T; p.I1246I; 6:127977028-127977028	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3881G>A; p.R1294Q; 6:127976745-127976745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4161C>A; p.F1387L; 6:127973130-127973130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.951C>T; p.I317I; 6:128184643-128184643	skin	malignant_melanoma	Substitution - coding silent
c.628C>T; p.Q210*; 6:128240100-128240100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3881G>A; p.R1294Q; 6:127976745-127976745	skin	malignant_melanoma	Substitution - Missense
c.1003G>A; p.G335R; 6:128184591-128184591	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3132C>T; p.F1044F; 6:127985840-127985840	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3132C>A; p.F1044L; 6:127985840-127985840	skin	malignant_melanoma	Substitution - Missense
c.2962T>G; p.L988V; 6:127991311-127991311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.480G>A; p.W160*; 6:128322054-128322054	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4032A>C; p.E1344D; 6:127973765-127973765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1831A>T; p.T611S; 6:128078865-128078865	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2555G>A; p.C852Y; 6:127998844-127998844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3743C>A; p.T1248K; 6:127977023-127977023	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3911C>A; p.S1304Y; 6:127976715-127976715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1085G>A; p.R362Q; 6:128184509-128184509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2499G>T; p.E833D; 6:127998900-127998900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3116G>T; p.R1039L; 6:127985856-127985856	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1974C>A; p.Y658*; 6:128067702-128067702	prostate	adenoma	Substitution - Nonsense
c.830G>T; p.G277V; 6:128218960-128218960	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2179C>T; p.R727C; 6:128064773-128064773	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2767+1G>A; p.?; 6:127996900-127996900	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3587C>T; p.A1196V; 6:127981240-127981240	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2735G>T; p.R912I; 6:127996933-127996933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2746C>T; p.R916*; 6:127996922-127996922	liver	carcinoma	Substitution - Nonsense
c.2746C>T; p.R916*; 6:127996922-127996922	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3587C>T; p.A1196V; 6:127981240-127981240	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1309G>A; p.E437K; 6:128089846-128089846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3587C>T; p.A1196V; 6:127981240-127981240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2746C>T; p.R916*; 6:127996922-127996922	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2073G>A; p.R691R; 6:128067603-128067603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3472G>C; p.A1158P; 6:127982896-127982896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1140A>T; p.L380L; 6:128184454-128184454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2120A>G; p.Y707C; 6:128067556-128067556	stomach	adenocarcinoma	Substitution - Missense
c.2133C>T; p.F711F; 6:128067543-128067543	skin	malignant_melanoma	Substitution - coding silent
c.2048C>T; p.A683V; 6:128067628-128067628	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1464T>C; p.D488D; 6:128089691-128089691	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.122G>A; p.G41D; 6:128397667-128397667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1078G>A; p.E360K; 6:128184516-128184516	skin	malignant_melanoma	Substitution - Missense
c.3409G>C; p.D1137H; 6:127982959-127982959	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2062G>A; p.G688S; 6:128067614-128067614	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1078G>A; p.E360K; 6:128184516-128184516	skin	malignant_melanoma	Substitution - Missense
c.1351C>T; p.Q451*; 6:128089804-128089804	breast	carcinoma	Substitution - Nonsense
c.2241G>A; p.Q747Q; 6:128009222-128009222	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3921G>A; p.M1307I; 6:127976705-127976705	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3360T>A; p.S1120S; 6:127983269-127983269	skin	malignant_melanoma	Substitution - coding silent
c.2220G>A; p.V740V; 6:128009243-128009243	skin	malignant_melanoma	Substitution - coding silent
c.1071C>T; p.T357T; 6:128184523-128184523	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.434C>T; p.T145M; 6:128322100-128322100	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3674_3675GG>AA; p.G1225E; 6:127981152-127981153	skin	malignant_melanoma	Substitution - Missense
c.2564C>T; p.T855M; 6:127998835-127998835	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1022A>T; p.H341L; 6:128184572-128184572	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3690C>G; p.Y1230*; 6:127981137-127981137	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.892C>T; p.P298S; 6:128184702-128184702	skin	malignant_melanoma	Substitution - Missense
c.2724delA; p.D909fs*13; 6:127996944-127996944	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3234C>T; p.P1078P; 6:127985738-127985738	skin	malignant_melanoma	Substitution - coding silent
c.2597C>T; p.P866L; 6:127998802-127998802	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3831C>T; p.V1277V; 6:127976935-127976935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.821C>G; p.S274*; 6:128218969-128218969	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1645A>C; p.N549H; 6:128082569-128082569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3236T>C; p.I1079T; 6:127985736-127985736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4183G>A; p.E1395K; 6:127973108-127973108	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4183G>A; p.E1395K; 6:127973108-127973108	skin	malignant_melanoma	Substitution - Missense
c.4183G>A; p.E1395K; 6:127973108-127973108	skin	malignant_melanoma	Substitution - Missense
c.2510C>A; p.A837D; 6:127998889-127998889	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.633C>T; p.N211N; 6:128240095-128240095	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.466G>T; p.V156L; 6:128322068-128322068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.846T>A; p.N282K; 6:128218944-128218944	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.787delA; p.T263fs*9; 6:128219003-128219003	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2522C>T; p.S841F; 6:127998877-127998877	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1710C>T; p.F570F; 6:128082504-128082504	skin	malignant_melanoma	Substitution - coding silent
c.4143C>T; p.G1381G; 6:127973148-127973148	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4119G>A; p.T1373T; 6:127973678-127973678	skin	malignant_melanoma	Substitution - coding silent
c.3867G>A; p.E1289E; 6:127976759-127976759	skin	malignant_melanoma	Substitution - coding silent
c.4119G>A; p.T1373T; 6:127973678-127973678	skin	malignant_melanoma	Substitution - coding silent
c.2809C>T; p.P937S; 6:127995497-127995497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3744A>G; p.T1248T; 6:127977022-127977022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1020C>T; p.T340T; 6:128184574-128184574	skin	malignant_melanoma	Substitution - coding silent
c.2360C>A; p.A787D; 6:128005218-128005218	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3640G>A; p.D1214N; 6:127981187-127981187	breast	carcinoma	Substitution - Missense
c.1153A>T; p.K385*; 6:128184441-128184441	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3392A>G; p.Q1131R; 6:127982976-127982976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3883T>C; p.Y1295H; 6:127976743-127976743	central_nervous_system; brain	glioma	Substitution - Missense
c.3928G>A; p.D1310N; 6:127976698-127976698	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3941G>A; p.R1314Q; 6:127976685-127976685	skin	malignant_melanoma	Substitution - Missense
c.3410A>G; p.D1137G; 6:127982958-127982958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1239G>T; p.L413F; 6:128089916-128089916	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3155A>T; p.H1052L; 6:127985817-127985817	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1207G>A; p.A403T; 6:128089948-128089948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3910T>C; p.S1304P; 6:127976716-127976716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3910T>C; p.S1304P; 6:127976716-127976716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.991C>T; p.R331*; 6:128184603-128184603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3910T>C; p.S1304P; 6:127976716-127976716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2054T>C; p.F685S; 6:128067622-128067622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.294G>A; p.M98I; 6:128322240-128322240	skin	malignant_melanoma	Substitution - Missense
c.2054T>C; p.F685S; 6:128067622-128067622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2745C>A; p.N915K; 6:127996923-127996923	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3479T>G; p.F1160C; 6:127982889-127982889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2745C>A; p.N915K; 6:127996923-127996923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901C>T; p.L301F; 6:128184693-128184693	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2545C>T; p.R849C; 6:127998854-127998854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2323G>A; p.V775I; 6:128009140-128009140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3902A>T; p.E1301V; 6:127976724-127976724	pancreas	NS	Substitution - Missense
c.3231C>T; p.G1077G; 6:127985741-127985741	skin	malignant_melanoma	Substitution - coding silent
c.3266G>A; p.R1089Q; 6:127983363-127983363	skin	malignant_melanoma	Substitution - Missense
c.3266G>A; p.R1089Q; 6:127983363-127983363	skin	malignant_melanoma	Substitution - Missense
c.2527C>T; p.R843C; 6:127998872-127998872	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.223+1G>A; p.?; 6:128397565-128397565	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2360C>T; p.A787V; 6:128005218-128005218	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3217_3218CC>TT; p.P1073F; 6:127985754-127985755	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3007G>C; p.D1003H; 6:127990858-127990858	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4124T>A; p.I1375N; 6:127973673-127973673	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3668T>G; p.I1223S; 6:127981159-127981159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2086T>G; p.F696V; 6:128067590-128067590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1225G>A; p.D409N; 6:128089930-128089930	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4118C>T; p.T1373M; 6:127973679-127973679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3307G>T; p.A1103S; 6:127983322-127983322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3706A>G; p.M1236V; 6:127981121-127981121	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1198G>A; p.E400K; 6:128089957-128089957	urinary_tract; bladder	carcinoma	Substitution - Missense
c.718G>C; p.V240L; 6:128219072-128219072	large_intestine; rectum	adenoma	Substitution - Missense
c.1927A>G; p.K643E; 6:128067749-128067749	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.245C>G; p.S82C; 6:128322289-128322289	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833C>T; p.S278F; 6:128218957-128218957	thyroid	carcinoma	Substitution - Missense
c.2607G>T; p.R869S; 6:127998792-127998792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1927A>G; p.K643E; 6:128067749-128067749	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1226A>C; p.D409A; 6:128089929-128089929	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.100+10delC; p.?; 6:128520249-128520249	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.2563A>G; p.T855A; 6:127998836-127998836	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.155A>T; p.Y52F; 6:128397634-128397634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1802G>T; p.G601V; 6:128078894-128078894	skin	malignant_melanoma	Substitution - Missense
c.249A>C; p.S83S; 6:128322285-128322285	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.911G>A; p.G304E; 6:128184683-128184683	skin	malignant_melanoma	Substitution - Missense
c.3826G>A; p.E1276K; 6:127976940-127976940	skin	malignant_melanoma	Substitution - Missense
c.1802G>T; p.G601V; 6:128078894-128078894	skin	malignant_melanoma	Substitution - Missense
c.4176C>T; p.I1392I; 6:127973115-127973115	skin	malignant_melanoma	Substitution - coding silent
c.2753G>T; p.G918V; 6:127996915-127996915	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1477G>A; p.V493I; 6:128083813-128083813	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1984A>G; p.M662V; 6:128067692-128067692	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4213G>C; p.V1405L; 6:127973078-127973078	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4213G>C; p.V1405L; 6:127973078-127973078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.969C>T; p.I323I; 6:128184625-128184625	skin	malignant_melanoma	Substitution - coding silent
c.2279G>A; p.G760E; 6:128009184-128009184	skin	malignant_melanoma	Substitution - Missense
c.2295C>T; p.I765I; 6:128009168-128009168	skin	malignant_melanoma	Substitution - coding silent
c.923_924insT; p.L308fs*53; 6:128184670-128184671	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1108G>A; p.E370K; 6:128184486-128184486	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3817A>G; p.M1273V; 6:127976949-127976949	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2028G>A; p.P676P; 6:128067648-128067648	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108G>A; p.E370K; 6:128184486-128184486	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1110A>C; p.E370D; 6:128184484-128184484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598C>A; p.S533*; 6:128082616-128082616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1398G>A; p.K466K; 6:128089757-128089757	skin	malignant_melanoma	Substitution - coding silent
c.3621C>T; p.F1207F; 6:127981206-127981206	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.3711+1G>A; p.?; 6:127981115-127981115	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.4113C>T; p.G1371G; 6:127973684-127973684	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2640G>A; p.M880I; 6:127998759-127998759	skin	malignant_melanoma	Substitution - Missense
c.1522T>G; p.F508V; 6:128083768-128083768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3709G>T; p.D1237Y; 6:127981118-127981118	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1886C>T; p.A629V; 6:128067790-128067790	skin	malignant_melanoma	Substitution - Missense
c.2747G>T; p.R916L; 6:127996921-127996921	pancreas	carcinoma	Substitution - Missense
c.4082delA; p.K1361fs*18; 6:127973715-127973715	stomach	adenocarcinoma	Deletion - Frameshift
c.2565G>A; p.T855T; 6:127998834-127998834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4082delA; p.K1361fs*18; 6:127973715-127973715	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1610C>T; p.A537V; 6:128082604-128082604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2107C>T; p.P703S; 6:128067569-128067569	skin	malignant_melanoma	Substitution - Missense
c.2065G>A; p.D689N; 6:128067611-128067611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1963C>T; p.P655S; 6:128067713-128067713	skin	malignant_melanoma	Substitution - Missense
c.2980-1G>C; p.?; 6:127990886-127990886	oesophagus	carcinoma	Unknown
c.2562G>A; p.G854G; 6:127998837-127998837	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.210C>T; p.P70P; 6:128397579-128397579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2267G>A; p.G756E; 6:128009196-128009196	skin; ear	malignant_melanoma	Substitution - Missense
c.2562G>A; p.G854G; 6:127998837-127998837	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4279C>T; p.R1427C; 6:127970271-127970271	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2767+1_2767+2GT>AC; p.?; 6:127996899-127996900	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.349G>T; p.G117*; 6:128322185-128322185	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Nonsense
c.626G>A; p.G209E; 6:128240102-128240102	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>A; p.D53N; 6:128397632-128397632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.349G>T; p.G117*; 6:128322185-128322185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2286G>T; p.L762F; 6:128009177-128009177	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1606C>T; p.P536S; 6:128082608-128082608	skin	malignant_melanoma	Substitution - Missense
c.3919A>G; p.M1307V; 6:127976707-127976707	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1297C>T; p.R433C; 6:128089858-128089858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2665A>T; p.K889*; 6:127998734-127998734	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2027delC; p.P676fs*39; 6:128067649-128067649	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3824A>G; p.N1275S; 6:127976942-127976942	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.386T>C; p.V129A; 6:128322148-128322148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2027delC; p.P676fs*39; 6:128067649-128067649	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4308C>T; p.Y1436Y; 6:127970242-127970242	breast	carcinoma	Substitution - coding silent
c.2546G>A; p.R849H; 6:127998853-127998853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2027delC; p.P676fs*39; 6:128067649-128067649	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2027delC; p.P676fs*39; 6:128067649-128067649	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4138G>A; p.G1380S; 6:127973153-127973153	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.698G>A; p.R233Q; 6:128219092-128219092	skin	malignant_melanoma	Substitution - Missense
c.1499G>A; p.G500E; 6:128083791-128083791	skin	malignant_melanoma	Substitution - Missense
c.169T>G; p.W57G; 6:128397620-128397620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4138G>A; p.G1380S; 6:127973153-127973153	skin	malignant_melanoma	Substitution - Missense
c.3777C>A; p.F1259L; 6:127976989-127976989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.571C>T; p.P191S; 6:128242527-128242527	skin	malignant_melanoma	Substitution - Missense
c.1163-1G>A; p.?; 6:128089993-128089993	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3141G>T; p.T1047T; 6:127985831-127985831	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1493T>A; p.L498H; 6:128083797-128083797	skin	malignant_melanoma	Substitution - Missense
c.4316C>T; p.S1439L; 6:127970234-127970234	skin	malignant_melanoma	Substitution - Missense
c.3979G>A; p.G1327S; 6:127973818-127973818	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3979G>A; p.G1327S; 6:127973818-127973818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.369G>T; p.L123F; 6:128322165-128322165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3401T>G; p.F1134C; 6:127982967-127982967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.147G>T; p.Q49H; 6:128397642-128397642	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4161C>T; p.F1387F; 6:127973130-127973130	skin	malignant_melanoma	Substitution - coding silent
c.148G>A; p.D50N; 6:128397641-128397641	skin	malignant_melanoma	Substitution - Missense
c.3211T>A; p.S1071T; 6:127985761-127985761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.582delA; p.K194fs*8; 6:128240146-128240146	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3626A>G; p.D1209G; 6:127981201-127981201	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3553A>G; p.T1185A; 6:127981274-127981274	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.873G>A; p.P291P; 6:128184721-128184721	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.873G>A; p.P291P; 6:128184721-128184721	breast	carcinoma	Substitution - coding silent
c.2045C>T; p.P682L; 6:128067631-128067631	skin	malignant_melanoma	Substitution - Missense
c.3805A>G; p.T1269A; 6:127976961-127976961	large_intestine	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]