lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	7498
Symbol	XDH
Synonymous	XO\|XOR
Full name	xanthine dehydrogenase
Gene description	xanthine dehydrogenase/oxidase\|xanthine oxidoreductase
Cytoband	2p23.1
Gene type	protein-coding
Synonymous	MIM:607633; HGNC:HGNC:12805; Ensembl:ENSG00000158125; HPRD:06363; Vega:OTTHUMG00000099385

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2598C>T; p.S866S; 2:31364191-31364191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2641C>G; p.R881G; 2:31350214-31350214	pancreas	carcinoma	Substitution - Missense
c.2958C>A; p.D986E; 2:31349697-31349697	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2827C>T; p.R943W; 2:31349828-31349828	central_nervous_system; spinal_cord	glioma; ependymoma	Substitution - Missense
c.2027C>T; p.P676L; 2:31368614-31368614	skin	malignant_melanoma	Substitution - Missense
c.411G>A; p.E137E; 2:31398595-31398595	skin	malignant_melanoma	Substitution - coding silent
c.2902T>C; p.C968R; 2:31349753-31349753	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3649G>A; p.E1217K; 2:31339614-31339614	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2460C>T; p.T820T; 2:31365541-31365541	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2146G>A; p.E716K; 2:31368012-31368012	skin	malignant_melanoma	Substitution - Missense
c.3495C>T; p.I1165I; 2:31342207-31342207	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837C>T; p.R613W; 2:31372247-31372247	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.620C>A; p.T207N; 2:31387842-31387842	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2287C>T; p.L763F; 2:31366905-31366905	breast	carcinoma; ductolobular_carcinoma	Substitution - Missense
c.76C>A; p.L26I; 2:31405931-31405931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2324G>A; p.S775N; 2:31366108-31366108	skin	malignant_melanoma	Substitution - Missense
c.1786G>A; p.D596N; 2:31372298-31372298	skin; neck	malignant_melanoma	Substitution - Missense
c.1687-4C>T; p.?; 2:31372401-31372401	skin; arm	malignant_melanoma	Unknown
c.2271G>T; p.E757D; 2:31366921-31366921	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3643T>C; p.S1215P; 2:31339620-31339620	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2626C>T; p.Q876*; 2:31364163-31364163	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2700G>A; p.R900R; 2:31350155-31350155	prostate	carcinoma	Substitution - coding silent
c.412G>A; p.E138K; 2:31398594-31398594	skin	malignant_melanoma	Substitution - Missense
c.2280G>A; p.E760E; 2:31366912-31366912	skin	malignant_melanoma	Substitution - coding silent
c.826C>T; p.P276S; 2:31383815-31383815	skin	malignant_melanoma	Substitution - Missense
c.51G>T; p.E17D; 2:31405956-31405956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.826C>T; p.P276S; 2:31383815-31383815	skin	malignant_melanoma	Substitution - Missense
c.1469T>G; p.L490R; 2:31375513-31375513	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3771G>A; p.S1257S; 2:31339492-31339492	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3544G>T; p.D1182Y; 2:31341370-31341370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3736C>T; p.R1246C; 2:31339527-31339527	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168G>T; p.G723V; 2:31367990-31367990	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1692G>A; p.V564V; 2:31372392-31372392	oesophagus	carcinoma	Substitution - coding silent
c.1478A>G; p.E493G; 2:31375504-31375504	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.296A>G; p.H99R; 2:31401230-31401230	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3230C>T; p.P1077L; 2:31347568-31347568	skin	malignant_melanoma	Substitution - Missense
c.3736C>T; p.R1246C; 2:31339527-31339527	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3736C>T; p.R1246C; 2:31339527-31339527	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3287A>G; p.Q1096R; 2:31346833-31346833	skin	malignant_melanoma	Substitution - Missense
c.3839G>A; p.R1280H; 2:31337753-31337753	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1031C>A; p.S344Y; 2:31383008-31383008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3007C>T; p.P1003S; 2:31348943-31348943	skin	malignant_melanoma	Substitution - Missense
c.684A>T; p.R228R; 2:31386523-31386523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.866C>T; p.S289L; 2:31383775-31383775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.866C>T; p.S289L; 2:31383775-31383775	skin	malignant_melanoma	Substitution - Missense
c.3130C>T; p.H1044Y; 2:31348285-31348285	skin	malignant_melanoma	Substitution - Missense
c.1277G>A; p.R426Q; 2:31377203-31377203	skin	malignant_melanoma	Substitution - Missense
c.3280G>T; p.A1094S; 2:31346840-31346840	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.464C>T; p.P155L; 2:31397699-31397699	skin	malignant_melanoma	Substitution - Missense
c.3898C>T; p.P1300S; 2:31337694-31337694	skin	malignant_melanoma	Substitution - Missense
c.1993G>A; p.G665R; 2:31368648-31368648	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1329G>A; p.K443K; 2:31377151-31377151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3652G>A; p.G1218R; 2:31339611-31339611	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1289A>G; p.D430G; 2:31377191-31377191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1329G>A; p.K443K; 2:31377151-31377151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.332C>T; p.S111F; 2:31398674-31398674	skin	malignant_melanoma	Substitution - Missense
c.3872T>C; p.V1291A; 2:31337720-31337720	skin	malignant_melanoma	Substitution - Missense
c.201C>T; p.H67H; 2:31401325-31401325	skin	malignant_melanoma	Substitution - coding silent
c.514G>A; p.G172R; 2:31388277-31388277	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3651G>A; p.E1217E; 2:31339612-31339612	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1288G>T; p.D430Y; 2:31377192-31377192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1819C>T; p.R607W; 2:31372265-31372265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.762C>T; p.D254D; 2:31386445-31386445	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.514G>A; p.G172R; 2:31388277-31388277	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2716C>T; p.L906F; 2:31350139-31350139	breast	carcinoma	Substitution - Missense
c.2488C>T; p.R830C; 2:31365513-31365513	breast	carcinoma	Substitution - Missense
c.1911C>T; p.S637S; 2:31370424-31370424	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1801G>A; p.E601K; 2:31372283-31372283	breast	carcinoma	Substitution - Missense
c.2578C>T; p.L860F; 2:31364211-31364211	skin	malignant_melanoma	Substitution - Missense
c.3842C>A; p.A1281E; 2:31337750-31337750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925G>A; p.E309K; 2:31383114-31383114	skin	malignant_melanoma	Substitution - Missense
c.436A>C; p.N146H; 2:31397727-31397727	pancreas	carcinoma	Substitution - Missense
c.925G>A; p.E309K; 2:31383114-31383114	skin	malignant_melanoma	Substitution - Missense
c.436A>C; p.N146H; 2:31397727-31397727	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1975G>A; p.D659N; 2:31370360-31370360	skin	malignant_melanoma	Substitution - Missense
c.1912G>A; p.A638T; 2:31370423-31370423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1730C>T; p.P577L; 2:31372354-31372354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>T; p.V486L; 2:31375526-31375526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1912G>A; p.A638T; 2:31370423-31370423	ovary	other; neoplasm	Substitution - Missense
c.895T>G; p.F299V; 2:31383144-31383144	skin	malignant_melanoma	Substitution - Missense
c.606G>A; p.T202T; 2:31387856-31387856	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2638G>A; p.E880K; 2:31350217-31350217	skin	malignant_melanoma	Substitution - Missense
c.140G>C; p.G47A; 2:31403105-31403105	skin	malignant_melanoma	Substitution - Missense
c.2652C>T; p.F884F; 2:31350203-31350203	skin	malignant_melanoma	Substitution - coding silent
c.2860A>G; p.T954A; 2:31349795-31349795	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1080C>T; p.D360D; 2:31381685-31381685	ovary	other; neoplasm	Substitution - coding silent
c.2876A>C; p.K959T; 2:31349779-31349779	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3192C>T; p.I1064I; 2:31347606-31347606	prostate	carcinoma	Substitution - coding silent
c.2876A>C; p.K959T; 2:31349779-31349779	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.198-10G>T; p.?; 2:31401338-31401338	oesophagus	carcinoma; adenocarcinoma	Unknown
c.339C>T; p.C113C; 2:31398667-31398667	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1677G>T; p.Q559H; 2:31373882-31373882	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2526C>A; p.P842P; 2:31365475-31365475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2155G>A; p.D719N; 2:31368003-31368003	skin	malignant_melanoma	Substitution - Missense
c.339C>T; p.C113C; 2:31398667-31398667	pancreas	carcinoma	Substitution - coding silent
c.1796G>A; p.R599H; 2:31372288-31372288	stomach	adenocarcinoma	Substitution - Missense
c.2964C>T; p.F988F; 2:31349691-31349691	skin	malignant_melanoma	Substitution - coding silent
c.1149C>T; p.V383V; 2:31379960-31379960	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1175G>C; p.G392A; 2:31379934-31379934	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2360G>A; p.R787Q; 2:31366072-31366072	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2145C>A; p.I715I; 2:31368013-31368013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1428-2A>T; p.?; 2:31375556-31375556	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1089C>T; p.P363P; 2:31381676-31381676	skin	malignant_melanoma	Substitution - coding silent
c.3602T>C; p.V1201A; 2:31339661-31339661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2112G>T; p.K704N; 2:31368046-31368046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1312A>G; p.M438V; 2:31377168-31377168	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3249C>T; p.S1083S; 2:31347549-31347549	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1382A>C; p.N461T; 2:31377098-31377098	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.976G>T; p.V326L; 2:31383063-31383063	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2710A>G; p.T904A; 2:31350145-31350145	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3690C>T; p.I1230I; 2:31339573-31339573	skin	malignant_melanoma	Substitution - coding silent
c.3324G>A; p.K1108K; 2:31346796-31346796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2617G>A; p.D873N; 2:31364172-31364172	skin	malignant_melanoma	Substitution - Missense
c.3937A>G; p.K1313E; 2:31337655-31337655	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3234G>A; p.T1078T; 2:31347564-31347564	liver	carcinoma	Substitution - coding silent
c.3937A>G; p.K1313E; 2:31337655-31337655	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3234G>A; p.T1078T; 2:31347564-31347564	liver	carcinoma	Substitution - coding silent
c.244C>A; p.H82N; 2:31401282-31401282	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3217C>G; p.P1073A; 2:31347581-31347581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3099C>A; p.T1033T; 2:31348316-31348316	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2176G>A; p.E726K; 2:31367982-31367982	skin	malignant_melanoma	Substitution - Missense
c.3108G>T; p.G1036G; 2:31348307-31348307	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1028A>T; p.K343M; 2:31383011-31383011	breast	carcinoma	Substitution - Missense
c.2751G>T; p.G917G; 2:31350104-31350104	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3790C>T; p.P1264S; 2:31337802-31337802	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3343G>A; p.E1115K; 2:31346777-31346777	skin	malignant_melanoma	Substitution - Missense
c.3667C>T; p.R1223C; 2:31339596-31339596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1309G>A; p.G437S; 2:31377171-31377171	skin	malignant_melanoma	Substitution - Missense
c.2820G>A; p.E940E; 2:31350035-31350035	skin	malignant_melanoma	Substitution - coding silent
c.3G>C; p.M1I; 2:31414664-31414664	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2539T>C; p.Y847H; 2:31365462-31365462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1653G>A; p.Q551Q; 2:31373906-31373906	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3239C>T; p.A1080V; 2:31347559-31347559	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1038G>A; p.A346A; 2:31383001-31383001	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3331A>C; p.S1111R; 2:31346789-31346789	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3359C>T; p.A1120V; 2:31344729-31344729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3359C>T; p.A1120V; 2:31344729-31344729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3646C>T; p.P1216S; 2:31339617-31339617	skin	malignant_melanoma	Substitution - Missense
c.776T>C; p.V259A; 2:31386431-31386431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3171C>T; p.I1057I; 2:31347627-31347627	skin	malignant_melanoma	Substitution - coding silent
c.3646C>T; p.P1216S; 2:31339617-31339617	skin	malignant_melanoma	Substitution - Missense
c.195C>T; p.I65I; 2:31403050-31403050	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2971G>A; p.E991K; 2:31348979-31348979	skin	malignant_melanoma	Substitution - Missense
c.1792C>T; p.P598S; 2:31372292-31372292	skin	malignant_melanoma	Substitution - Missense
c.1638A>C; p.A546A; 2:31373921-31373921	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3832G>A; p.A1278T; 2:31337760-31337760	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2100+5C>T; p.?; 2:31368536-31368536	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.260C>T; p.T87I; 2:31401266-31401266	skin	malignant_melanoma	Substitution - Missense
c.2273C>T; p.A758V; 2:31366919-31366919	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.343T>C; p.F115L; 2:31398663-31398663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.56delA; p.N19fs*12; 2:31405951-31405951	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1785C>T; p.D595D; 2:31372299-31372299	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2941C>T; p.R981W; 2:31349714-31349714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3997G>A; p.V1333I; 2:31335963-31335963	skin	malignant_melanoma	Substitution - Missense
c.2941C>T; p.R981W; 2:31349714-31349714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3945C>T; p.T1315T; 2:31337647-31337647	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1342G>T; p.E448*; 2:31377138-31377138	liver	carcinoma	Substitution - Nonsense
c.2474G>A; p.R825Q; 2:31365527-31365527	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.2474G>A; p.R825Q; 2:31365527-31365527	skin	malignant_melanoma	Substitution - Missense
c.1674C>T; p.V558V; 2:31373885-31373885	skin	malignant_melanoma	Substitution - coding silent
c.3767C>A; p.A1256E; 2:31339496-31339496	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2397T>C; p.F799F; 2:31366035-31366035	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2720C>T; p.P907L; 2:31350135-31350135	skin	malignant_melanoma	Substitution - Missense
c.3644C>T; p.S1215F; 2:31339619-31339619	skin	malignant_melanoma	Substitution - Missense
c.2517C>T; p.G839G; 2:31365484-31365484	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.944C>A; p.A315D; 2:31383095-31383095	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1380C>T; p.A460A; 2:31377100-31377100	skin	malignant_melanoma	Substitution - coding silent
c.311G>A; p.R104K; 2:31398695-31398695	skin	malignant_melanoma	Substitution - Missense
c.311G>A; p.R104K; 2:31398695-31398695	skin	malignant_melanoma	Substitution - Missense
c.311G>A; p.R104K; 2:31398695-31398695	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1254C>A; p.F418L; 2:31377226-31377226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2812C>T; p.P938S; 2:31350043-31350043	ovary	other; neoplasm	Substitution - Missense
c.1377G>T; p.M459I; 2:31377103-31377103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1397C>T; p.A466V; 2:31377083-31377083	skin	malignant_melanoma	Substitution - Missense
c.1456G>A; p.V486M; 2:31375526-31375526	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.299C>T; p.P100L; 2:31401227-31401227	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1188C>T; p.T396T; 2:31379921-31379921	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3427T>G; p.F1143V; 2:31342275-31342275	breast	carcinoma	Substitution - Missense
c.414G>C; p.E138D; 2:31398592-31398592	breast	carcinoma	Substitution - Missense
c.2212G>A; p.G738S; 2:31366980-31366980	central_nervous_system; brain	glioma	Substitution - Missense
c.2413C>T; p.R805W; 2:31366019-31366019	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2432C>T; p.T811M; 2:31366000-31366000	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2413C>T; p.R805W; 2:31366019-31366019	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2436A>T; p.A812A; 2:31365996-31365996	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.198-1G>A; p.?; 2:31401329-31401329	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3037C>T; p.P1013S; 2:31348913-31348913	skin	malignant_melanoma	Substitution - Missense
c.2031_2032delAC; p.Q680fs*11; 2:31368609-31368610	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.2251A>G; p.I751V; 2:31366941-31366941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2828G>A; p.R943Q; 2:31349827-31349827	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2848G>C; p.E950Q; 2:31349807-31349807	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2207A>T; p.Y736F; 2:31366985-31366985	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.931A>C; p.T311P; 2:31383108-31383108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2207A>T; p.Y736F; 2:31366985-31366985	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2207A>T; p.Y736F; 2:31366985-31366985	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.698G>A; p.R233H; 2:31386509-31386509	breast	carcinoma	Substitution - Missense
c.2207A>T; p.Y736F; 2:31366985-31366985	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3369G>A; p.M1123I; 2:31344719-31344719	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.931A>C; p.T311P; 2:31383108-31383108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2277G>A; p.G759G; 2:31366915-31366915	skin	malignant_melanoma	Substitution - coding silent
c.381G>T; p.L127L; 2:31398625-31398625	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3544G>A; p.D1182N; 2:31341370-31341370	skin	malignant_melanoma	Substitution - Missense
c.3242C>T; p.S1081F; 2:31347556-31347556	skin	malignant_melanoma	Substitution - Missense
c.3242C>T; p.S1081F; 2:31347556-31347556	skin	malignant_melanoma	Substitution - Missense
c.3544G>A; p.D1182N; 2:31341370-31341370	skin	malignant_melanoma	Substitution - Missense
c.3853C>T; p.Q1285*; 2:31337739-31337739	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.3219C>A; p.P1073P; 2:31347579-31347579	bone; rib	chondrosarcoma	Substitution - coding silent
c.780G>A; p.G260G; 2:31386427-31386427	skin	malignant_melanoma	Substitution - coding silent
c.1795C>T; p.R599C; 2:31372289-31372289	skin	malignant_melanoma	Substitution - Missense
c.434G>A; p.G145E; 2:31397729-31397729	skin; neck	malignant_melanoma	Substitution - Missense
c.2211C>T; p.I737I; 2:31366981-31366981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2211C>T; p.I737I; 2:31366981-31366981	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1585C>A; p.Q529K; 2:31375397-31375397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1838G>A; p.R613Q; 2:31372246-31372246	skin	malignant_melanoma	Substitution - Missense
c.128G>T; p.C43F; 2:31403117-31403117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1838G>A; p.R613Q; 2:31372246-31372246	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.716C>T; p.A239V; 2:31386491-31386491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.461G>T; p.R154I; 2:31397702-31397702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2278G>A; p.E760K; 2:31366914-31366914	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.734T>C; p.L245P; 2:31386473-31386473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2642G>A; p.R881Q; 2:31350213-31350213	skin	malignant_melanoma	Substitution - Missense
c.2642G>A; p.R881Q; 2:31350213-31350213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1807G>A; p.E603K; 2:31372277-31372277	skin	malignant_melanoma	Substitution - Missense
c.2642G>A; p.R881Q; 2:31350213-31350213	skin	malignant_melanoma	Substitution - Missense
c.2371C>G; p.R791G; 2:31366061-31366061	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2371C>T; p.R791*; 2:31366061-31366061	large_intestine	adenoma	Substitution - Nonsense
c.2139G>T; p.L713L; 2:31368019-31368019	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1133G>T; p.G378V; 2:31379976-31379976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2723C>T; p.S908F; 2:31350132-31350132	skin	malignant_melanoma	Substitution - Missense
c.3038C>A; p.P1013H; 2:31348912-31348912	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2723C>T; p.S908F; 2:31350132-31350132	skin	malignant_melanoma	Substitution - Missense
c.2962T>C; p.F988L; 2:31349693-31349693	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3717G>A; p.E1239E; 2:31339546-31339546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3717G>A; p.E1239E; 2:31339546-31339546	thyroid	other; neoplasm	Substitution - coding silent
c.1851G>A; p.K617K; 2:31372233-31372233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1200G>A; p.P400P; 2:31379909-31379909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.887-9C>T; p.?; 2:31383161-31383161	ovary	other; neoplasm	Unknown
c.2288T>C; p.L763P; 2:31366904-31366904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1845C>T; p.H615H; 2:31372239-31372239	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3496G>A; p.D1166N; 2:31342206-31342206	skin	malignant_melanoma	Substitution - Missense
c.3443G>T; p.G1148V; 2:31342259-31342259	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037C>T; p.A346V; 2:31383002-31383002	pancreas	carcinoma	Substitution - Missense
c.3105G>A; p.G1035G; 2:31348310-31348310	skin	malignant_melanoma	Substitution - coding silent
c.307-1G>T; p.?; 2:31398700-31398700	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1527C>T; p.C509C; 2:31375455-31375455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2923A>G; p.S975G; 2:31349732-31349732	skin	malignant_melanoma	Substitution - Missense
c.3616C>T; p.L1206F; 2:31339647-31339647	skin	malignant_melanoma	Substitution - Missense
c.472C>T; p.Q158*; 2:31397691-31397691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.643G>A; p.E215K; 2:31387819-31387819	skin	malignant_melanoma	Substitution - Missense
c.1189C>T; p.L397L; 2:31379920-31379920	skin	malignant_melanoma	Substitution - coding silent
c.2076A>G; p.E692E; 2:31368565-31368565	skin	malignant_melanoma	Substitution - coding silent
c.2354C>A; p.A785E; 2:31366078-31366078	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2686C>T; p.R896W; 2:31350169-31350169	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2686C>T; p.R896W; 2:31350169-31350169	skin	malignant_melanoma	Substitution - Missense
c.2323-1G>C; p.?; 2:31366110-31366110	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3825C>G; p.I1275M; 2:31337767-31337767	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 2:31386524-31386524	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3097A>G; p.T1033A; 2:31348318-31348318	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 2:31386524-31386524	breast	carcinoma	Substitution - Missense
c.64C>T; p.P22S; 2:31405943-31405943	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3097A>G; p.T1033A; 2:31348318-31348318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3371A>G; p.D1124G; 2:31344717-31344717	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1333G>A; p.G445R; 2:31377147-31377147	skin	malignant_melanoma	Substitution - Missense
c.340G>A; p.G114R; 2:31398666-31398666	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.340G>A; p.G114R; 2:31398666-31398666	skin	malignant_melanoma	Substitution - Missense
c.396C>T; p.P132P; 2:31398610-31398610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3235G>A; p.A1079T; 2:31347563-31347563	large_intestine; colon	NS	Substitution - Missense
c.2060A>C; p.K687T; 2:31368581-31368581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.670C>T; p.R224W; 2:31386537-31386537	skin	malignant_melanoma	Substitution - Missense
c.1480C>T; p.L494L; 2:31375502-31375502	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2058G>A; p.V686V; 2:31368583-31368583	skin	malignant_melanoma	Substitution - coding silent
c.2128G>A; p.G710R; 2:31368030-31368030	skin	malignant_melanoma	Substitution - Missense
c.2529C>T; p.F843F; 2:31365472-31365472	skin	malignant_melanoma	Substitution - coding silent
c.2872C>T; p.Q958*; 2:31349783-31349783	skin	malignant_melanoma	Substitution - Nonsense
c.2058G>A; p.V686V; 2:31368583-31368583	skin	malignant_melanoma	Substitution - coding silent
c.3848G>C; p.R1283P; 2:31337744-31337744	urinary_tract; bladder	carcinoma	Substitution - Missense
c.934C>A; p.L312M; 2:31383105-31383105	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3668G>A; p.R1223H; 2:31339595-31339595	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1629C>T; p.F543F; 2:31373930-31373930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.581C>T; p.S194F; 2:31387881-31387881	skin	malignant_melanoma	Substitution - Missense
c.3302G>A; p.R1101K; 2:31346818-31346818	skin	malignant_melanoma	Substitution - Missense
c.2535C>T; p.A845A; 2:31365466-31365466	skin	malignant_melanoma	Substitution - coding silent
c.1629C>T; p.F543F; 2:31373930-31373930	skin	malignant_melanoma	Substitution - coding silent
c.3302G>A; p.R1101K; 2:31346818-31346818	skin	malignant_melanoma	Substitution - Missense
c.3083G>A; p.G1028D; 2:31348332-31348332	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3758C>T; p.A1253V; 2:31339505-31339505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2289C>T; p.L763L; 2:31366903-31366903	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2569G>T; p.V857F; 2:31364220-31364220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2162A>G; p.K721R; 2:31367996-31367996	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.636T>C; p.F212F; 2:31387826-31387826	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.733C>A; p.L245M; 2:31386474-31386474	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2343G>A; p.L781L; 2:31366089-31366089	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2751delG; p.Q919fs*10; 2:31350104-31350104	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2390G>C; p.G797A; 2:31366042-31366042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2792T>A; p.V931D; 2:31350063-31350063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2556G>A; p.M852I; 2:31364233-31364233	skin; mucosal	malignant_melanoma	Substitution - Missense
c.271A>C; p.I91L; 2:31401255-31401255	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2537G>C; p.R846T; 2:31365464-31365464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>A; p.M122I; 2:31398640-31398640	breast	carcinoma	Substitution - Missense
c.2605G>T; p.G869W; 2:31364184-31364184	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2537G>C; p.R846T; 2:31365464-31365464	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.329G>A; p.G110D; 2:31398677-31398677	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3469G>A; p.G1157R; 2:31342233-31342233	skin	malignant_melanoma	Substitution - Missense
c.2889C>T; p.F963F; 2:31349766-31349766	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1533C>A; p.L511L; 2:31375449-31375449	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - coding silent
c.1533C>A; p.L511L; 2:31375449-31375449	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2268C>T; p.G756G; 2:31366924-31366924	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3098C>G; p.T1033S; 2:31348317-31348317	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.198-1G>C; p.?; 2:31401329-31401329	ovary	other; neoplasm	Unknown
c.2130A>T; p.G710G; 2:31368028-31368028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3519+1G>A; p.?; 2:31342182-31342182	skin	malignant_melanoma	Unknown
c.1394C>G; p.S465*; 2:31377086-31377086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2462G>T; p.G821V; 2:31365539-31365539	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.323G>A; p.S108N; 2:31398683-31398683	skin	malignant_melanoma	Substitution - Missense
c.1070C>T; p.P357L; 2:31381695-31381695	skin	malignant_melanoma	Substitution - Missense
c.323G>A; p.S108N; 2:31398683-31398683	skin	malignant_melanoma	Substitution - Missense
c.2145C>T; p.I715I; 2:31368013-31368013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.679C>T; p.L227L; 2:31386528-31386528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3532G>A; p.D1178N; 2:31341382-31341382	skin; arm	malignant_melanoma	Substitution - Missense
c.1818C>T; p.L606L; 2:31372266-31372266	skin	malignant_melanoma	Substitution - coding silent
c.898G>A; p.G300R; 2:31383141-31383141	skin	malignant_melanoma	Substitution - Missense
c.404_405CC>TA; p.T135I; 2:31398601-31398602	skin	malignant_melanoma	Substitution - Missense
c.1796G>C; p.R599P; 2:31372288-31372288	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.41A>T; p.K14M; 2:31414626-31414626	skin	malignant_melanoma	Substitution - Missense
c.483G>C; p.R161R; 2:31397680-31397680	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.839G>T; p.C280F; 2:31383802-31383802	pancreas	carcinoma	Substitution - Missense
c.1600G>A; p.D534N; 2:31375382-31375382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3250G>A; p.A1084T; 2:31347548-31347548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3250G>A; p.A1084T; 2:31347548-31347548	ovary	other; neoplasm	Substitution - Missense
c.1600G>A; p.D534N; 2:31375382-31375382	skin	malignant_melanoma	Substitution - Missense
c.2738G>C; p.R913P; 2:31350117-31350117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2717T>A; p.L906H; 2:31350138-31350138	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.3341G>A; p.W1114*; 2:31346779-31346779	skin	malignant_melanoma	Substitution - Nonsense
c.43-2A>C; p.?; 2:31405966-31405966	skin	malignant_melanoma	Unknown
c.1761C>T; p.A587A; 2:31372323-31372323	skin	malignant_melanoma	Substitution - coding silent
c.2677C>T; p.P893S; 2:31350178-31350178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2040G>T; p.Q680H; 2:31368601-31368601	prostate	carcinoma	Substitution - Missense
c.2460C>A; p.T820T; 2:31365541-31365541	skin	malignant_melanoma	Substitution - coding silent
c.2473C>T; p.R825*; 2:31365528-31365528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2473C>T; p.R825*; 2:31365528-31365528	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1573C>T; p.Q525*; 2:31375409-31375409	skin	malignant_melanoma	Substitution - Nonsense
c.1548C>T; p.F516F; 2:31375434-31375434	skin	malignant_melanoma	Substitution - coding silent
c.1590G>T; p.E530D; 2:31375392-31375392	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1548C>T; p.F516F; 2:31375434-31375434	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3532G>T; p.D1178Y; 2:31341382-31341382	large_intestine; colon	carcinoma	Substitution - Missense
c.1242+2T>C; p.?; 2:31379865-31379865	lung	carcinoma; small_cell_carcinoma	Unknown
c.1276C>A; p.R426R; 2:31377204-31377204	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.215C>A; p.A72D; 2:31401311-31401311	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.522G>A; p.G174G; 2:31388269-31388269	skin	malignant_melanoma	Substitution - coding silent
c.522G>A; p.G174G; 2:31388269-31388269	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.192G>A; p.K64K; 2:31403053-31403053	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2655C>T; p.H885H; 2:31350200-31350200	pancreas	carcinoma	Substitution - coding silent
c.1046G>A; p.G349E; 2:31381719-31381719	skin	malignant_melanoma	Substitution - Missense
c.3302G>C; p.R1101T; 2:31346818-31346818	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1905C>T; p.F635F; 2:31370430-31370430	skin	malignant_melanoma	Substitution - coding silent
c.42+1delG; p.?; 2:31414624-31414624	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.2740G>T; p.G914C; 2:31350115-31350115	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.521G>C; p.G174A; 2:31388270-31388270	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3172C>T; p.P1058S; 2:31347626-31347626	skin	malignant_melanoma	Substitution - Missense
c.3195C>T; p.S1065S; 2:31347603-31347603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1971G>A; p.A657A; 2:31370364-31370364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3444G>A; p.G1148G; 2:31342258-31342258	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2100_2100+1GG>TT; p.?; 2:31368540-31368541	lung	carcinoma; adenocarcinoma	Unknown
c.813G>T; p.K271N; 2:31383828-31383828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>T; p.G159C; 2:31397688-31397688	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.475G>T; p.G159C; 2:31397688-31397688	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3737G>A; p.R1246H; 2:31339526-31339526	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.G723E; 2:31367990-31367990	skin	malignant_melanoma	Substitution - Missense
c.1208T>C; p.I403T; 2:31379901-31379901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3350G>C; p.W1117S; 2:31346770-31346770	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3165G>A; p.L1055L; 2:31347633-31347633	skin	malignant_melanoma	Substitution - coding silent
c.3462C>T; p.F1154F; 2:31342240-31342240	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3389C>T; p.A1130V; 2:31344699-31344699	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2602G>A; p.V868M; 2:31364187-31364187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1088C>T; p.P363L; 2:31381677-31381677	skin	malignant_melanoma	Substitution - Missense
c.113G>A; p.G38E; 2:31403132-31403132	skin	malignant_melanoma	Substitution - Missense
c.2410A>G; p.T804A; 2:31366022-31366022	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.410A>G; p.E137G; 2:31398596-31398596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3145C>A; p.Q1049K; 2:31348270-31348270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.283A>G; p.K95E; 2:31401243-31401243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.556G>T; p.D186Y; 2:31388235-31388235	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>A; p.V313M; 2:31383102-31383102	skin	malignant_melanoma	Substitution - Missense
c.463C>A; p.P155T; 2:31397700-31397700	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2530C>T; p.L844L; 2:31365471-31365471	skin	malignant_melanoma	Substitution - coding silent
c.344T>C; p.F115S; 2:31398662-31398662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.E677K; 2:31368612-31368612	kidney	other; neoplasm	Substitution - Missense
c.3822C>A; p.A1274A; 2:31337770-31337770	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2853G>T; p.G951G; 2:31349802-31349802	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974G>A; p.K658K; 2:31370361-31370361	skin	malignant_melanoma	Substitution - coding silent
c.490G>A; p.A164T; 2:31397673-31397673	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2392G>T; p.G798C; 2:31366040-31366040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2392G>T; p.G798C; 2:31366040-31366040	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3910G>A; p.E1304K; 2:31337682-31337682	skin	malignant_melanoma	Substitution - Missense
c.167C>T; p.S56F; 2:31403078-31403078	skin	malignant_melanoma	Substitution - Missense
c.1209A>G; p.I403M; 2:31379900-31379900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3910G>A; p.E1304K; 2:31337682-31337682	skin	malignant_melanoma	Substitution - Missense
c.1901G>A; p.C634Y; 2:31370434-31370434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3075C>T; p.Y1025Y; 2:31348340-31348340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2781G>A; p.W927*; 2:31350074-31350074	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.1800C>T; p.Y600Y; 2:31372284-31372284	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.893C>T; p.S298F; 2:31383146-31383146	skin	malignant_melanoma	Substitution - Missense
c.2372G>T; p.R791L; 2:31366060-31366060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1664delC; p.P555fs*67; 2:31373895-31373895	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1664delC; p.P555fs*67; 2:31373895-31373895	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1954G>A; p.D652N; 2:31370381-31370381	skin	malignant_melanoma	Substitution - Missense
c.2688G>A; p.R896R; 2:31350167-31350167	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation