Entrez Gene

Basic Information
Gene ID	182
Name	JAG1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.2671G>A; p.A891T; 20:10641794-10641794	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2671G>A; p.A891T; 20:10641794-10641794	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1594A>T; p.N532Y; 20:10648086-10648086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2671G>A; p.A891T; 20:10641794-10641794	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3437_3442delTGTCTA; p.M1146_S1147delMS; 20:10639713-10639718	bone; humerus	other; chondroblastoma	Deletion - In frame
c.891C>T; p.L297L; 20:10652246-10652246	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1544C>T; p.T515I; 20:10648574-10648574	breast	carcinoma	Substitution - Missense
c.2928G>A; p.T976T; 20:10641233-10641233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1708A>G; p.T570A; 20:10647972-10647972	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1184G>A; p.G395E; 20:10650297-10650297	skin	malignant_melanoma	Substitution - Missense
c.2008G>A; p.D670N; 20:10645461-10645461	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2305G>A; p.V769I; 20:10644902-10644902	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2576C>A; p.S859*; 20:10641889-10641889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3154G>A; p.V1052I; 20:10640828-10640828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3552G>A; p.K1184K; 20:10639603-10639603	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.682G>A; p.E228K; 20:10658480-10658480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.814G>A; p.V272I; 20:10652540-10652540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.V272I; 20:10652540-10652540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.E228K; 20:10658480-10658480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.E228K; 20:10658480-10658480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2665C>T; p.R889W; 20:10641800-10641800	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1445A>G; p.D482G; 20:10648673-10648673	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3638G>A; p.R1213Q; 20:10639517-10639517	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2419G>A; p.E807K; 20:10643817-10643817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2913A>G; p.S971S; 20:10641463-10641463	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1518C>T; p.I506I; 20:10648600-10648600	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3140C>T; p.S1047L; 20:10640842-10640842	skin	malignant_melanoma	Substitution - Missense
c.114G>T; p.E38D; 20:10672974-10672974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2269G>T; p.G757C; 20:10644938-10644938	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2739C>T; p.S913S; 20:10641637-10641637	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3055G>A; p.E1019K; 20:10640927-10640927	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.311delG; p.G104fs*57; 20:10672777-10672777	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1920C>T; p.N640N; 20:10646050-10646050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3417T>C; p.Y1139Y; 20:10639738-10639738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1655C>A; p.P552H; 20:10648025-10648025	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1875C>A; p.Y625*; 20:10646949-10646949	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2721G>A; p.G907G; 20:10641655-10641655	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.566A>T; p.D189V; 20:10658596-10658596	urinary_tract; bladder	carcinoma	Substitution - Missense
c.870C>T; p.G290G; 20:10652484-10652484	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.1007C>A; p.A336D; 20:10651694-10651694	urinary_tract; bladder	carcinoma	Substitution - Missense
c.870C>T; p.G290G; 20:10652484-10652484	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.3034A>C; p.I1012L; 20:10641127-10641127	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3147T>G; p.I1049M; 20:10640835-10640835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3262G>T; p.A1088S; 20:10639893-10639893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3521C>T; p.P1174L; 20:10639634-10639634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2405A>G; p.N802S; 20:10643831-10643831	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.327C>T; p.L109L; 20:10672761-10672761	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.777C>T; p.G259G; 20:10652577-10652577	skin	malignant_melanoma	Substitution - coding silent
c.2889delT; p.F963fs*7; 20:10641487-10641487	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.3391G>A; p.A1131T; 20:10639764-10639764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2089T>G; p.W697G; 20:10645380-10645380	breast	carcinoma	Substitution - Missense
c.671G>A; p.W224*; 20:10658491-10658491	skin	malignant_melanoma	Substitution - Nonsense
c.3179G>C; p.R1060P; 20:10640803-10640803	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3179G>C; p.R1060P; 20:10640803-10640803	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2113+1G>A; p.?; 20:10645355-10645355	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.287C>G; p.S96*; 20:10672801-10672801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3478G>A; p.D1160N; 20:10639677-10639677	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2343G>A; p.Q781Q; 20:10644864-10644864	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3651C>T; p.I1217I; 20:10639504-10639504	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3651C>T; p.I1217I; 20:10639504-10639504	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.563A>G; p.D188G; 20:10658599-10658599	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3651C>T; p.I1217I; 20:10639504-10639504	skin	malignant_melanoma	Substitution - coding silent
c.477C>T; p.G159G; 20:10658685-10658685	pancreas	NS	Substitution - coding silent
c.266G>A; p.G89E; 20:10672822-10672822	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.506C>T; p.T169M; 20:10658656-10658656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1845_1846delTG; p.C615fs*1; 20:10646978-10646979	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2876C>T; p.A959V; 20:10641500-10641500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3108C>T; p.I1036I; 20:10640874-10640874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2104_2105insCC; p.C702fs*42; 20:10645364-10645365	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1283A>C; p.K428T; 20:10649587-10649587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2104_2105insCC; p.C702fs*42; 20:10645364-10645365	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1657G>A; p.E553K; 20:10648023-10648023	skin	malignant_melanoma	Substitution - Missense
c.3096T>C; p.T1032T; 20:10640886-10640886	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2104_2105insCC; p.C702fs*42; 20:10645364-10645365	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1598C>T; p.P533L; 20:10648082-10648082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772T>G; p.V591G; 20:10647052-10647052	breast	carcinoma	Substitution - Missense
c.2832G>A; p.V944V; 20:10641544-10641544	central_nervous_system; brain	glioma	Substitution - coding silent
c.2270G>A; p.G757D; 20:10644937-10644937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2050G>A; p.D684N; 20:10645419-10645419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1183G>A; p.G395R; 20:10650298-10650298	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1335G>A; p.Q445Q; 20:10649535-10649535	skin	malignant_melanoma	Substitution - coding silent
c.2880C>T; p.N960N; 20:10641496-10641496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1523G>A; p.R508K; 20:10648595-10648595	skin	malignant_melanoma	Substitution - Missense
c.3048T>A; p.I1016I; 20:10641113-10641113	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3655T>C; p.*1219Q; 20:10639500-10639500	urinary_tract; bladder	carcinoma	Nonstop extension
c.650A>C; p.N217T; 20:10658512-10658512	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1860C>T; p.G620G; 20:10646964-10646964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2445C>T; p.P815P; 20:10643791-10643791	central_nervous_system; brain	glioma	Substitution - coding silent
c.1160delG; p.G387fs*25; 20:10650321-10650321	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1384G>A; p.A462T; 20:10649072-10649072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1384G>A; p.A462T; 20:10649072-10649072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3411G>A; p.K1137K; 20:10639744-10639744	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2227+2T>C; p.?; 20:10645141-10645141	stomach	carcinoma; adenocarcinoma	Unknown
c.1770G>A; p.G590G; 20:10647054-10647054	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1770G>A; p.G590G; 20:10647054-10647054	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.519C>T; p.N173N; 20:10658643-10658643	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.341G>A; p.G114D; 20:10672747-10672747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2829G>A; p.P943P; 20:10641547-10641547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.509_514delTGAAGC; p.L170_K171delLK; 20:10658648-10658653	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2231G>A; p.R744Q; 20:10644976-10644976	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2231G>A; p.R744Q; 20:10644976-10644976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2633A>T; p.D878V; 20:10641832-10641832	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.881A>T; p.D294V; 20:10652473-10652473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.214G>A; p.D72N; 20:10672874-10672874	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2372+8T>C; p.?; 20:10644349-10644349	liver	carcinoma	Unknown
c.2372+8T>C; p.?; 20:10644349-10644349	liver	carcinoma	Unknown
c.2670C>T; p.I890I; 20:10641795-10641795	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2050G>T; p.D684Y; 20:10645419-10645419	lung	carcinoma	Substitution - Missense
c.2173delG; p.D725fs*18; 20:10645197-10645197	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3000C>T; p.I1000I; 20:10641161-10641161	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.435delC; p.V146fs*15; 20:10663967-10663967	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1593T>C; p.P531P; 20:10648087-10648087	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.414G>A; p.A138A; 20:10663988-10663988	breast	carcinoma	Substitution - coding silent
c.2542C>T; p.P848S; 20:10642518-10642518	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1188T>C; p.F396F; 20:10650293-10650293	skin	malignant_melanoma	Substitution - coding silent
c.505A>G; p.T169A; 20:10658657-10658657	pancreas	carcinoma	Substitution - Missense
c.2399G>A; p.G800E; 20:10643837-10643837	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2474A>G; p.Q825R; 20:10642586-10642586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.425G>A; p.S142N; 20:10663977-10663977	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2229C>T; p.A743A; 20:10644978-10644978	skin	malignant_melanoma	Substitution - coding silent
c.2442G>A; p.G814G; 20:10643794-10643794	skin	malignant_melanoma	Substitution - coding silent
c.762G>A; p.Q254Q; 20:10652592-10652592	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.947G>A; p.G316D; 20:10652190-10652190	breast	carcinoma	Substitution - Missense
c.372C>G; p.F124L; 20:10672716-10672716	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2733C>T; p.C911C; 20:10641643-10641643	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2828C>T; p.P943L; 20:10641548-10641548	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1464C>T; p.I488I; 20:10648654-10648654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2958G>C; p.L986F; 20:10641203-10641203	breast	carcinoma	Substitution - Missense
c.2368C>A; p.P790T; 20:10644361-10644361	breast	carcinoma	Substitution - Missense
c.2169G>T; p.E723D; 20:10645201-10645201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.850T>G; p.C284G; 20:10652504-10652504	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.807G>A; p.P269P; 20:10652547-10652547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.664G>T; p.E222*; 20:10658498-10658498	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.429_430insT; p.D144fs*1; 20:10663972-10663973	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2125T>C; p.C709R; 20:10645245-10645245	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2189T>C; p.M730T; 20:10645181-10645181	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2125T>C; p.C709R; 20:10645245-10645245	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.765C>T; p.Y255Y; 20:10652589-10652589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3289C>T; p.R1097W; 20:10639866-10639866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.G274S; 20:10652534-10652534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2315A>T; p.E772V; 20:10644892-10644892	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.695-8T>G; p.?; 20:10656466-10656466	liver	carcinoma	Unknown
c.3440C>G; p.S1147C; 20:10639715-10639715	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2377A>G; p.N793D; 20:10643859-10643859	pleura	pulmonary_blastoma	Substitution - Missense
c.439+1G>A; p.?; 20:10663962-10663962	breast	carcinoma	Unknown
c.1807G>A; p.G603R; 20:10647017-10647017	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3168A>C; p.R1056S; 20:10640814-10640814	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3204C>T; p.F1068F; 20:10639951-10639951	skin	malignant_melanoma	Substitution - coding silent
c.3374C>A; p.P1125H; 20:10639781-10639781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.703C>T; p.R235*; 20:10656450-10656450	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Nonsense
c.1085_1086insAGTG; p.C362fs*1; 20:10651615-10651616	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3558delC; p.N1187fs*25; 20:10639597-10639597	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.93C>A; p.A31A; 20:10672995-10672995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2649C>A; p.C883*; 20:10641816-10641816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3346C>T; p.R1116W; 20:10639809-10639809	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3038A>T; p.H1013L; 20:10641123-10641123	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2227+3A>T; p.?; 20:10645140-10645140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.516G>A; p.Q172Q; 20:10658646-10658646	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3007G>A; p.E1003K; 20:10641154-10641154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2550C>G; p.H850Q; 20:10642510-10642510	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3187A>G; p.K1063E; 20:10640795-10640795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2778C>T; p.F926F; 20:10641598-10641598	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1428A>G; p.P476P; 20:10648690-10648690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.544C>T; p.Q182*; 20:10658618-10658618	breast	carcinoma	Substitution - Nonsense
c.2230C>T; p.R744*; 20:10644977-10644977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2230C>T; p.R744*; 20:10644977-10644977	pancreas	carcinoma	Substitution - Nonsense
c.2230C>T; p.R744*; 20:10644977-10644977	skin	malignant_melanoma	Substitution - Nonsense
c.659G>A; p.C220Y; 20:10658503-10658503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2139G>A; p.T713T; 20:10645231-10645231	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1449C>T; p.H483H; 20:10648669-10648669	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1936G>A; p.D646N; 20:10646034-10646034	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3507G>C; p.R1169R; 20:10639648-10639648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3066G>A; p.R1022R; 20:10640916-10640916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1936G>A; p.D646N; 20:10646034-10646034	skin	malignant_melanoma	Substitution - Missense
c.2048G>A; p.R683H; 20:10645421-10645421	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1962C>T; p.I654I; 20:10646008-10646008	oesophagus	carcinoma	Substitution - coding silent
c.403C>T; p.L135F; 20:10663999-10663999	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3359_3360insA; p.N1120fs*8; 20:10639795-10639796	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1474G>C; p.A492P; 20:10648644-10648644	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.526G>A; p.V176I; 20:10658636-10658636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1863C>T; p.F621F; 20:10646961-10646961	breast	carcinoma	Substitution - coding silent
c.855G>C; p.E285D; 20:10652499-10652499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3001G>A; p.A1001T; 20:10641160-10641160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2929G>C; p.E977Q; 20:10641232-10641232	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2549A>G; p.H850R; 20:10642511-10642511	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.588C>T; p.C196C; 20:10658574-10658574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2543C>T; p.P848L; 20:10642517-10642517	ovary	other; neoplasm	Substitution - Missense
c.588C>T; p.C196C; 20:10658574-10658574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2901G>A; p.K967K; 20:10641475-10641475	skin	malignant_melanoma	Substitution - coding silent
c.1528C>T; p.Q510*; 20:10648590-10648590	skin	malignant_melanoma	Substitution - Nonsense
c.2317G>A; p.G773S; 20:10644890-10644890	skin	malignant_melanoma	Substitution - Missense
c.1993G>A; p.E665K; 20:10645977-10645977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3109G>A; p.D1037N; 20:10640873-10640873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2974G>A; p.V992I; 20:10641187-10641187	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3127G>A; p.D1043N; 20:10640855-10640855	skin	malignant_melanoma	Substitution - Missense
c.3050C>T; p.S1017F; 20:10640932-10640932	breast	carcinoma	Substitution - Missense
c.1570C>G; p.L524V; 20:10648110-10648110	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3528C>T; p.Y1176Y; 20:10639627-10639627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3528C>T; p.Y1176Y; 20:10639627-10639627	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1553C>T; p.S518F; 20:10648565-10648565	skin	malignant_melanoma	Substitution - Missense
c.2952G>A; p.R984R; 20:10641209-10641209	skin	malignant_melanoma	Substitution - coding silent
c.2166T>C; p.D722D; 20:10645204-10645204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.744A>G; p.P248P; 20:10656409-10656409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2038G>A; p.G680S; 20:10645431-10645431	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2167G>A; p.E723K; 20:10645203-10645203	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.767G>A; p.G256D; 20:10652587-10652587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2304C>T; p.C768C; 20:10644903-10644903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2167_2168insG; p.E723fs*6; 20:10645202-10645203	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3081G>A; p.P1027P; 20:10640901-10640901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1448A>T; p.H483L; 20:10648670-10648670	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2898C>G; p.N966K; 20:10641478-10641478	pancreas	carcinoma	Substitution - Missense
c.173C>T; p.A58V; 20:10672915-10672915	skin	malignant_melanoma	Substitution - Missense
c.1916G>A; p.R639K; 20:10646054-10646054	skin	malignant_melanoma	Substitution - Missense
c.2289C>T; p.G763G; 20:10644918-10644918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2898C>G; p.N966K; 20:10641478-10641478	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2289C>T; p.G763G; 20:10644918-10644918	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2898C>G; p.N966K; 20:10641478-10641478	pancreas	carcinoma	Substitution - Missense
c.3523G>A; p.A1175T; 20:10639632-10639632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.246T>G; p.Y82*; 20:10672842-10672842	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2370C>A; p.P790P; 20:10644359-10644359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2877G>A; p.A959A; 20:10641499-10641499	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2877G>A; p.A959A; 20:10641499-10641499	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791C>T; p.N597N; 20:10647033-10647033	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2541T>A; p.P847P; 20:10642519-10642519	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.551G>A; p.R184H; 20:10658611-10658611	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3228C>T; p.V1076V; 20:10639927-10639927	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.551G>A; p.R184H; 20:10658611-10658611	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3538G>A; p.D1180N; 20:10639617-10639617	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.C502R; 20:10648614-10648614	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.C502R; 20:10648614-10648614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3299G>C; p.G1100A; 20:10639856-10639856	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3538G>A; p.D1180N; 20:10639617-10639617	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.575A>G; p.Y192C; 20:10658587-10658587	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.381C>T; p.A127A; 20:10672707-10672707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1696C>T; p.H566Y; 20:10647984-10647984	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.409G>T; p.E137*; 20:10663993-10663993	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3570G>A; p.P1190P; 20:10639585-10639585	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3570G>A; p.P1190P; 20:10639585-10639585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1109C>T; p.T370I; 20:10651592-10651592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

The somatic mutations from COSMIC database