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	9940
Symbol	DLEC1
Synonymous	CFAP81\|DLC1\|F56
Full name	deleted in lung and esophageal cancer 1
Gene description	DLC-1\|cilia and flagella associated protein 81\|deleted in lung and esophageal cancer 1 transcript varient 2\|deleted in lung and esophageal cancer protein 1
Cytoband	3p21.3
Gene type	protein-coding
Synonymous	MIM:604050; HGNC:HGNC:2899; Ensembl:ENSG00000008226; HPRD:07234; Vega:OTTHUMG00000131085

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.4935G>A; p.G1645G; 3:38121696-38121696	breast	carcinoma	Substitution - coding silent
c.448G>C; p.E150Q; 3:38045579-38045579	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3911_3912insGGGG; p.E1305fs*20; 3:38116507-38116508	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.3402T>C; p.Y1134Y; 3:38110240-38110240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187C>T; p.S729S; 3:38096584-38096584	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187C>T; p.S729S; 3:38096584-38096584	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187C>T; p.S729S; 3:38096584-38096584	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3402T>C; p.Y1134Y; 3:38110240-38110240	kidney	other; neoplasm	Substitution - coding silent
c.2849delA; p.N951fs*67; 3:38100410-38100410	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1230G>A; p.P410P; 3:38084214-38084214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4969G>A; p.V1657I; 3:38121730-38121730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>T; p.S172I; 3:38045646-38045646	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.415C>T; p.R139W; 3:38045546-38045546	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3435G>T; p.K1145N; 3:38110273-38110273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3961G>A; p.G1321R; 3:38116557-38116557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3100C>T; p.L1034F; 3:38108486-38108486	kidney	other; neoplasm	Substitution - Missense
c.2709G>T; p.Q903H; 3:38097887-38097887	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2587G>A; p.V863I; 3:38097765-38097765	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4189G>T; p.A1397S; 3:38116984-38116984	liver	carcinoma	Substitution - Missense
c.4189G>T; p.A1397S; 3:38116984-38116984	liver	carcinoma	Substitution - Missense
c.3790G>A; p.G1264S; 3:38114987-38114987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.315A>T; p.S105S; 3:38039540-38039540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2731C>T; p.P911S; 3:38100292-38100292	skin	malignant_melanoma	Substitution - Missense
c.315A>T; p.S105S; 3:38039540-38039540	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1626G>A; p.S542S; 3:38088349-38088349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1676C>T; p.S559F; 3:38092800-38092800	NS	malignant_melanoma	Substitution - Missense
c.4211A>G; p.Y1404C; 3:38117006-38117006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2829C>T; p.T943T; 3:38100390-38100390	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2829C>T; p.T943T; 3:38100390-38100390	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2076A>G; p.T692T; 3:38095035-38095035	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4262A>G; p.E1421G; 3:38117057-38117057	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4140G>A; p.V1380V; 3:38116850-38116850	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.367A>G; p.S123G; 3:38039592-38039592	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3390C>G; p.L1130L; 3:38110228-38110228	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1001C>T; p.P334L; 3:38062708-38062708	skin	malignant_melanoma	Substitution - Missense
c.2502C>T; p.D834D; 3:38097574-38097574	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.267C>T; p.T89T; 3:38039492-38039492	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2088C>A; p.F696L; 3:38095047-38095047	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1992C>T; p.F664F; 3:38094951-38094951	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.438G>A; p.L146L; 3:38045569-38045569	skin	malignant_melanoma	Substitution - coding silent
c.2367C>T; p.I789I; 3:38097208-38097208	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.520G>A; p.A174T; 3:38045651-38045651	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.926_927delAG; p.E311fs*25; 3:38062633-38062634	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3685G>A; p.E1229K; 3:38114360-38114360	skin	malignant_melanoma	Substitution - Missense
c.679T>A; p.S227T; 3:38062174-38062174	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1876C>T; p.L626F; 3:38093724-38093724	skin	malignant_melanoma	Substitution - Missense
c.3775C>T; p.P1259S; 3:38114450-38114450	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2212G>A; p.D738N; 3:38096609-38096609	skin	malignant_melanoma	Substitution - Missense
c.2532G>A; p.S844S; 3:38097604-38097604	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1129C>G; p.P377A; 3:38063875-38063875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.895delA; p.N300fs*3; 3:38062602-38062602	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4783G>C; p.D1595H; 3:38120526-38120526	NS	NS	Substitution - Missense
c.771G>A; p.R257R; 3:38062266-38062266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.854G>A; p.R285K; 3:38062349-38062349	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2033C>T; p.A678V; 3:38094992-38094992	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.789C>T; p.F263F; 3:38062284-38062284	skin	malignant_melanoma	Substitution - coding silent
c.789C>T; p.F263F; 3:38062284-38062284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.789C>T; p.F263F; 3:38062284-38062284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.789C>T; p.F263F; 3:38062284-38062284	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.789C>T; p.F263F; 3:38062284-38062284	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4550A>G; p.Y1517C; 3:38117870-38117870	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4722A>G; p.S1574S; 3:38120465-38120465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4613G>T; p.R1538I; 3:38117933-38117933	liver	carcinoma	Substitution - Missense
c.727G>A; p.V243I; 3:38062222-38062222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1219C>T; p.R407*; 3:38084203-38084203	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4487T>G; p.V1496G; 3:38117807-38117807	breast	carcinoma	Substitution - Missense
c.2815C>T; p.Q939*; 3:38100376-38100376	skin	malignant_melanoma	Substitution - Nonsense
c.225C>T; p.P75P; 3:38039450-38039450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.236T>G; p.L79R; 3:38039461-38039461	breast	carcinoma	Substitution - Missense
c.4758A>G; p.P1586P; 3:38120501-38120501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.236T>G; p.L79R; 3:38039461-38039461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3824G>A; p.R1275Q; 3:38115021-38115021	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.369C>T; p.S123S; 3:38039594-38039594	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4881G>A; p.R1627R; 3:38121642-38121642	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.999T>C; p.F333F; 3:38062706-38062706	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.487G>C; p.A163P; 3:38045618-38045618	thyroid	carcinoma	Substitution - Missense
c.3060C>T; p.S1020S; 3:38108446-38108446	skin	malignant_melanoma	Substitution - coding silent
c.1668C>T; p.V556V; 3:38092792-38092792	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2520_2521delAG; p.D841fs*10; 3:38097592-38097593	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4276G>A; p.A1426T; 3:38117071-38117071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3815_3816delCA; p.T1272fs*9; 3:38115012-38115013	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.211C>G; p.L71V; 3:38039436-38039436	breast	carcinoma	Substitution - Missense
c.2595C>T; p.A865A; 3:38097773-38097773	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4352C>T; p.A1451V; 3:38117254-38117254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4212C>T; p.Y1404Y; 3:38117007-38117007	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4880G>A; p.R1627Q; 3:38121641-38121641	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.613C>A; p.H205N; 3:38059792-38059792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2531C>T; p.S844L; 3:38097603-38097603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901T>C; p.W301R; 3:38062608-38062608	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4556G>A; p.R1519Q; 3:38117876-38117876	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.725C>T; p.S242F; 3:38062220-38062220	skin	malignant_melanoma	Substitution - Missense
c.642C>A; p.T214T; 3:38059821-38059821	skin	malignant_melanoma	Substitution - coding silent
c.1442C>T; p.P481L; 3:38086247-38086247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>A; p.D693N; 3:38095036-38095036	skin	malignant_melanoma	Substitution - Missense
c.1716C>T; p.I572I; 3:38092840-38092840	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2339A>G; p.K780R; 3:38096736-38096736	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4559T>C; p.L1520P; 3:38117879-38117879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1924G>A; p.V642M; 3:38094883-38094883	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5265C>T; p.P1755P; 3:38122409-38122409	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4539G>A; p.E1513E; 3:38117859-38117859	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1639G>A; p.A547T; 3:38088362-38088362	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.645T>C; p.D215D; 3:38059824-38059824	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4386C>T; p.Y1462Y; 3:38117288-38117288	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5257C>G; p.H1753D; 3:38122401-38122401	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2020G>A; p.D674N; 3:38094979-38094979	skin	malignant_melanoma	Substitution - Missense
c.4775C>A; p.P1592H; 3:38120518-38120518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3279C>A; p.G1093G; 3:38110117-38110117	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1027T>C; p.S343P; 3:38062734-38062734	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3435G>C; p.K1145N; 3:38110273-38110273	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2282A>T; p.Y761F; 3:38096679-38096679	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1059G>A; p.P353P; 3:38062766-38062766	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1057C>T; p.P353S; 3:38062764-38062764	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1059G>A; p.P353P; 3:38062766-38062766	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2656G>A; p.V886I; 3:38097834-38097834	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2614C>T; p.R872C; 3:38097792-38097792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4164C>T; p.I1388I; 3:38116874-38116874	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2614C>T; p.R872C; 3:38097792-38097792	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1052C>T; p.P351L; 3:38062759-38062759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2802G>T; p.E934D; 3:38100363-38100363	liver	carcinoma	Substitution - Missense
c.2802G>T; p.E934D; 3:38100363-38100363	liver	carcinoma	Substitution - Missense
c.1052C>T; p.P351L; 3:38062759-38062759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3031C>T; p.Q1011*; 3:38108417-38108417	skin	malignant_melanoma	Substitution - Nonsense
c.152A>G; p.Y51C; 3:38039377-38039377	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.485G>A; p.R162Q; 3:38045616-38045616	skin	malignant_melanoma	Substitution - Missense
c.109A>G; p.S37G; 3:38039334-38039334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3903C>T; p.D1301D; 3:38116499-38116499	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4964G>A; p.R1655Q; 3:38121725-38121725	skin	malignant_melanoma	Substitution - Missense
c.2518G>A; p.E840K; 3:38097590-38097590	skin	malignant_melanoma	Substitution - Missense
c.3811G>A; p.D1271N; 3:38115008-38115008	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2518G>A; p.E840K; 3:38097590-38097590	breast	carcinoma	Substitution - Missense
c.1030C>A; p.L344I; 3:38062737-38062737	breast	carcinoma	Substitution - Missense
c.3289G>A; p.E1097K; 3:38110127-38110127	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584C>T; p.T528T; 3:38088307-38088307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4893C>T; p.A1631A; 3:38121654-38121654	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2848G>A; p.E950K; 3:38100409-38100409	skin	malignant_melanoma	Substitution - Missense
c.2848G>A; p.E950K; 3:38100409-38100409	skin	malignant_melanoma	Substitution - Missense
c.1443G>A; p.P481P; 3:38086248-38086248	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.485G>T; p.R162L; 3:38045616-38045616	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3478C>T; p.R1160W; 3:38111711-38111711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1239G>A; p.T413T; 3:38084223-38084223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239G>A; p.T413T; 3:38084223-38084223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4063-7G>C; p.?; 3:38116766-38116766	liver	carcinoma	Unknown
c.1239G>A; p.T413T; 3:38084223-38084223	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3521T>C; p.M1174T; 3:38112216-38112216	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4892C>T; p.A1631V; 3:38121653-38121653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5071_5072insAACA; p.S1691fs*28; 3:38122121-38122122	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.4582G>A; p.V1528I; 3:38117902-38117902	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5071_5072insAACA; p.S1691fs*28; 3:38122121-38122122	central_nervous_system; brain	glioma	Insertion - Frameshift
c.2284G>A; p.A762T; 3:38096681-38096681	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3360T>A; p.N1120K; 3:38110198-38110198	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2615G>C; p.R872P; 3:38097793-38097793	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3147G>C; p.L1049L; 3:38109449-38109449	ovary	other; neoplasm	Substitution - coding silent
c.4151A>C; p.H1384P; 3:38116861-38116861	breast	carcinoma	Substitution - Missense
c.2565+2T>A; p.?; 3:38097639-38097639	ovary	carcinoma; serous_carcinoma	Unknown
c.991C>T; p.R331C; 3:38062698-38062698	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3215G>A; p.G1072E; 3:38109517-38109517	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2984G>A; p.G995D; 3:38107703-38107703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.779T>G; p.L260R; 3:38062274-38062274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3915G>A; p.E1305E; 3:38116511-38116511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.978C>T; p.F326F; 3:38062685-38062685	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3911T>G; p.V1304G; 3:38116507-38116507	thyroid	other; neoplasm	Substitution - Missense
c.2685G>A; p.M895I; 3:38097863-38097863	urinary_tract; bladder	carcinoma	Substitution - Missense
c.900C>T; p.N300N; 3:38062607-38062607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.764C>T; p.S255L; 3:38062259-38062259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.874-2A>G; p.?; 3:38062579-38062579	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.2180C>T; p.A727V; 3:38096577-38096577	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4662A>G; p.S1554S; 3:38117982-38117982	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4048G>A; p.E1350K; 3:38116644-38116644	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4997G>A; p.R1666Q; 3:38121758-38121758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1731C>T; p.C577C; 3:38092855-38092855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.257C>T; p.S86L; 3:38039482-38039482	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5051C>A; p.A1684D; 3:38122101-38122101	breast	carcinoma	Substitution - Missense
c.145C>A; p.L49I; 3:38039370-38039370	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2028G>T; p.E676D; 3:38094987-38094987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4125G>A; p.Q1375Q; 3:38116835-38116835	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1554G>A; p.W518*; 3:38086359-38086359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3340C>T; p.R1114C; 3:38110178-38110178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4372G>C; p.D1458H; 3:38117274-38117274	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85C>T; p.P29S; 3:38039310-38039310	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4954C>T; p.Q1652*; 3:38121715-38121715	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.631G>A; p.D211N; 3:38059810-38059810	skin	malignant_melanoma	Substitution - Missense
c.631G>A; p.D211N; 3:38059810-38059810	skin	malignant_melanoma	Substitution - Missense
c.2595C>A; p.A865A; 3:38097773-38097773	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3458C>T; p.P1153L; 3:38111691-38111691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.654G>A; p.P218P; 3:38059833-38059833	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3458C>T; p.P1153L; 3:38111691-38111691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5145G>A; p.R1715R; 3:38122289-38122289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3621C>T; p.G1207G; 3:38112316-38112316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.450A>C; p.E150D; 3:38045581-38045581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3941T>C; p.F1314S; 3:38116537-38116537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4751A>C; p.K1584T; 3:38120494-38120494	liver	carcinoma	Substitution - Missense
c.3267G>T; p.E1089D; 3:38110105-38110105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4751A>C; p.K1584T; 3:38120494-38120494	liver	carcinoma	Substitution - Missense
c.1722C>T; p.C574C; 3:38092846-38092846	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1722C>T; p.C574C; 3:38092846-38092846	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5082A>G; p.L1694L; 3:38122132-38122132	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3081C>T; p.G1027G; 3:38108467-38108467	skin	malignant_melanoma	Substitution - coding silent
c.878C>T; p.A293V; 3:38062585-38062585	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3781A>G; p.M1261V; 3:38114456-38114456	NS	malignant_melanoma	Substitution - Missense
c.988C>T; p.P330S; 3:38062695-38062695	skin	malignant_melanoma	Substitution - Missense
c.4209C>T; p.I1403I; 3:38117004-38117004	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2737G>A; p.D913N; 3:38100298-38100298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2198C>T; p.S733F; 3:38096595-38096595	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3781A>G; p.M1261V; 3:38114456-38114456	NS	malignant_melanoma	Substitution - Missense
c.2737G>A; p.D913N; 3:38100298-38100298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4209C>T; p.I1403I; 3:38117004-38117004	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2650C>A; p.R884R; 3:38097828-38097828	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3733C>A; p.L1245M; 3:38114408-38114408	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2190G>A; p.L730L; 3:38096587-38096587	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2551G>A; p.E851K; 3:38097623-38097623	skin	malignant_melanoma	Substitution - Missense
c.2958G>A; p.T986T; 3:38107677-38107677	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2075C>T; p.T692I; 3:38095034-38095034	pancreas	carcinoma	Substitution - Missense
c.2934A>C; p.R978S; 3:38107653-38107653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2958G>A; p.T986T; 3:38107677-38107677	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.5029G>A; p.E1677K; 3:38122079-38122079	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5029G>A; p.E1677K; 3:38122079-38122079	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5095G>A; p.A1699T; 3:38122145-38122145	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3260G>T; p.S1087I; 3:38109562-38109562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1800T>C; p.G600G; 3:38093648-38093648	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2230G>A; p.E744K; 3:38096627-38096627	skin	malignant_melanoma	Substitution - Missense
c.4461C>T; p.L1487L; 3:38117587-38117587	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2651G>A; p.R884Q; 3:38097829-38097829	pancreas	NS	Substitution - Missense
c.1330C>T; p.P444S; 3:38085342-38085342	skin	malignant_melanoma	Substitution - Missense
c.2111A>G; p.E704G; 3:38095070-38095070	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3293T>G; p.L1098R; 3:38110131-38110131	skin	malignant_melanoma	Substitution - Missense
c.5107C>G; p.P1703A; 3:38122157-38122157	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2664G>A; p.Q888Q; 3:38097842-38097842	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1028C>T; p.S343F; 3:38062735-38062735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2805C>T; p.A935A; 3:38100366-38100366	skin	malignant_melanoma	Substitution - coding silent
c.4401-1G>A; p.?; 3:38117526-38117526	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3104A>T; p.K1035M; 3:38108490-38108490	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3602T>G; p.L1201R; 3:38112297-38112297	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1879C>T; p.R627W; 3:38093727-38093727	pancreas	carcinoma	Substitution - Missense
c.2199C>T; p.S733S; 3:38096596-38096596	breast	carcinoma	Substitution - coding silent
c.873+1G>A; p.?; 3:38062369-38062369	skin	malignant_melanoma	Unknown
c.5213G>A; p.R1738Q; 3:38122357-38122357	pancreas	carcinoma	Substitution - Missense
c.2457T>C; p.F819F; 3:38097529-38097529	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5106C>T; p.P1702P; 3:38122156-38122156	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1701G>A; p.E567E; 3:38092825-38092825	skin	malignant_melanoma	Substitution - coding silent
c.3530T>C; p.M1177T; 3:38112225-38112225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3995G>A; p.G1332D; 3:38116591-38116591	skin	malignant_melanoma	Substitution - Missense
c.2530T>C; p.S844P; 3:38097602-38097602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5248A>G; p.M1750V; 3:38122392-38122392	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5090G>A; p.R1697Q; 3:38122140-38122140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235C>T; p.L79L; 3:38039460-38039460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289T>C; p.V430A; 3:38085301-38085301	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3991G>A; p.E1331K; 3:38116587-38116587	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5191G>A; p.G1731S; 3:38122335-38122335	skin	malignant_melanoma	Substitution - Missense
c.1052C>A; p.P351Q; 3:38062759-38062759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1262_1263GG>TT; p.G421V; 3:38085274-38085275	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2775G>A; p.G925G; 3:38100336-38100336	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.315A>G; p.S105S; 3:38039540-38039540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2254G>A; p.E752K; 3:38096651-38096651	skin; extremity	malignant_melanoma	Substitution - Missense
c.2448C>T; p.V816V; 3:38097520-38097520	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.643G>A; p.D215N; 3:38059822-38059822	skin	malignant_melanoma	Substitution - Missense
c.2258C>T; p.P753L; 3:38096655-38096655	skin	malignant_melanoma	Substitution - Missense
c.643G>A; p.D215N; 3:38059822-38059822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>A; p.D215N; 3:38059822-38059822	large_intestine; rectum	NS	Substitution - Missense
c.832T>G; p.L278V; 3:38062327-38062327	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2542T>C; p.L848L; 3:38097614-38097614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3897G>A; p.K1299K; 3:38116493-38116493	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1066G>A; p.E356K; 3:38062773-38062773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>T; p.S844S; 3:38097604-38097604	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3265G>A; p.E1089K; 3:38110103-38110103	skin	malignant_melanoma	Substitution - Missense
c.2527C>T; p.P843S; 3:38097599-38097599	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1303A>C; p.T435P; 3:38085315-38085315	urinary_tract; bladder	carcinoma	Substitution - Missense
c.820C>T; p.L274L; 3:38062315-38062315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4035G>A; p.S1345S; 3:38116631-38116631	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4035G>A; p.S1345S; 3:38116631-38116631	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.4315G>A; p.E1439K; 3:38117217-38117217	skin	malignant_melanoma	Substitution - Missense
c.2343G>A; p.M781I; 3:38097184-38097184	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3640G>A; p.E1214K; 3:38112335-38112335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052C>G; p.P351R; 3:38062759-38062759	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.5160C>T; p.Y1720Y; 3:38122304-38122304	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.643G>T; p.D215Y; 3:38059822-38059822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.981delA; p.N329fs*26; 3:38062688-38062688	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.981delA; p.N329fs*26; 3:38062688-38062688	stomach	adenocarcinoma	Deletion - Frameshift
c.3564T>C; p.P1188P; 3:38112259-38112259	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4025C>T; p.S1342F; 3:38116621-38116621	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1255G>A; p.G419R; 3:38084239-38084239	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3407G>A; p.G1136E; 3:38110245-38110245	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1072C>T; p.Q358*; 3:38062779-38062779	skin	malignant_melanoma	Substitution - Nonsense
c.2241G>A; p.V747V; 3:38096638-38096638	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2107C>T; p.H703Y; 3:38095066-38095066	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1625C>T; p.S542L; 3:38088348-38088348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1585G>A; p.V529I; 3:38088308-38088308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1585G>A; p.V529I; 3:38088308-38088308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2704C>A; p.L902I; 3:38097882-38097882	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1450G>A; p.D484N; 3:38086255-38086255	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3283C>T; p.P1095S; 3:38110121-38110121	skin; shoulder	malignant_melanoma	Substitution - Missense
c.3540C>T; p.H1180H; 3:38112235-38112235	pancreas	carcinoma	Substitution - coding silent
c.3690C>T; p.V1230V; 3:38114365-38114365	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1812G>A; p.Q604Q; 3:38093660-38093660	skin	malignant_melanoma	Substitution - coding silent
c.3845C>A; p.S1282Y; 3:38115042-38115042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3690C>T; p.V1230V; 3:38114365-38114365	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3313G>C; p.A1105P; 3:38110151-38110151	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4409T>A; p.V1470E; 3:38117535-38117535	pancreas	carcinoma	Substitution - Missense
c.2287C>T; p.L763F; 3:38096684-38096684	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1460A>G; p.Y487C; 3:38086265-38086265	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2854G>T; p.G952C; 3:38100415-38100415	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1799G>T; p.G600V; 3:38093647-38093647	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2517C>T; p.I839I; 3:38097589-38097589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4956G>A; p.Q1652Q; 3:38121717-38121717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.992_993insT; p.P334fs*3; 3:38062699-38062700	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4870G>A; p.V1624M; 3:38121631-38121631	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2517C>T; p.I839I; 3:38097589-38097589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3899A>G; p.E1300G; 3:38116495-38116495	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4036G>A; p.E1346K; 3:38116632-38116632	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2830G>A; p.V944I; 3:38100391-38100391	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2830G>A; p.V944I; 3:38100391-38100391	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2077G>T; p.D693Y; 3:38095036-38095036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3296G>A; p.R1099H; 3:38110134-38110134	pancreas	NS	Substitution - Missense
c.3314C>T; p.A1105V; 3:38110152-38110152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1870G>A; p.E624K; 3:38093718-38093718	skin	malignant_melanoma	Substitution - Missense
c.4658C>T; p.A1553V; 3:38117978-38117978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.993delT; p.P334fs*21; 3:38062700-38062700	stomach	adenocarcinoma	Deletion - Frameshift
c.2354G>A; p.S785N; 3:38097195-38097195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3812_3813delAC; p.T1272fs*9; 3:38115009-38115010	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3429C>T; p.S1143S; 3:38110267-38110267	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.75G>A; p.A25A; 3:38039300-38039300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3288G>A; p.K1096K; 3:38110126-38110126	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4340T>C; p.L1447P; 3:38117242-38117242	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation