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	8567
Symbol	MADD
Synonymous	DENN\|IG20\|RAB3GEP
Full name	MAP-kinase activating death domain
Gene description	MAP kinase-activating death domain protein\|Rab3 GDP/GTP exchange factor\|differentially expressed in normal and neoplastic cells\|insulinoma glucagonoma clone 20
Cytoband	11p11.2
Gene type	protein-coding
Synonymous	MIM:603584; HGNC:HGNC:6766; Ensembl:ENSG00000110514; HPRD:04664; Vega:OTTHUMG00000150350

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1512delG; p.G505fs*17; 11:47282423-47282423	breast	carcinoma	Deletion - Frameshift
c.1272G>T; p.L424L; 11:47279061-47279061	breast	carcinoma	Substitution - coding silent
c.4610A>T; p.K1537I; 11:47324332-47324332	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2620C>G; p.R874G; 11:47286501-47286501	skin	malignant_melanoma	Substitution - Missense
c.2898G>A; p.V966V; 11:47289948-47289948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1503C>T; p.N501N; 11:47282414-47282414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2096G>A; p.R699H; 11:47284504-47284504	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3704G>A; p.R1235Q; 11:47296000-47296000	pancreas	carcinoma	Substitution - Missense
c.349C>T; p.R117C; 11:47274849-47274849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3704G>A; p.R1235Q; 11:47296000-47296000	pancreas	carcinoma	Substitution - Missense
c.1814T>C; p.L605P; 11:47282921-47282921	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3457G>C; p.E1153Q; 11:47293924-47293924	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3704G>A; p.R1235Q; 11:47296000-47296000	pancreas	carcinoma	Substitution - Missense
c.1910_1911CC>TT; p.S637F; 11:47284225-47284226	skin	malignant_melanoma	Substitution - Missense
c.2335delT; p.P781fs*34; 11:47285118-47285118	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2346G>A; p.E782E; 11:47285129-47285129	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3623C>T; p.T1208I; 11:47295919-47295919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832C>T; p.P278S; 11:47276071-47276071	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2063A>T; p.D688V; 11:47284471-47284471	breast	carcinoma	Substitution - Missense
c.2480G>T; p.R827L; 11:47285519-47285519	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4442A>T; p.E1481V; 11:47323735-47323735	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2312C>T; p.P771L; 11:47285095-47285095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4307G>A; p.R1436Q; 11:47315257-47315257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4771G>A; p.V1591I; 11:47326786-47326786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1407G>A; p.P469P; 11:47281691-47281691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2640C>T; p.F880F; 11:47286521-47286521	skin	malignant_melanoma	Substitution - coding silent
c.1530G>A; p.T510T; 11:47282441-47282441	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1532G>A; p.R511H; 11:47282443-47282443	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.252G>A; p.K84K; 11:47274752-47274752	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1718C>T; p.P573L; 11:47282825-47282825	skin	malignant_melanoma	Substitution - Missense
c.3229C>T; p.R1077W; 11:47290684-47290684	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662A>G; p.D221G; 11:47275901-47275901	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3519G>T; p.R1173S; 11:47295498-47295498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3499C>A; p.L1167M; 11:47293966-47293966	breast	carcinoma	Substitution - Missense
c.4441G>C; p.E1481Q; 11:47323734-47323734	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4445A>C; p.K1482T; 11:47323738-47323738	skin	malignant_melanoma	Substitution - Missense
c.1862+2T>C; p.?; 11:47282971-47282971	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2800C>T; p.R934*; 11:47289477-47289477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3713_3716delTGTC; p.S1239fs*20; 11:47296009-47296012	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.348_349CC>TT; p.R117C; 11:47274848-47274849	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1498G>A; p.A500T; 11:47282409-47282409	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1498G>A; p.A500T; 11:47282409-47282409	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3967T>G; p.F1323V; 11:47309316-47309316	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.528C>T; p.S176S; 11:47275028-47275028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4084C>T; p.R1362C; 11:47309538-47309538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3226G>C; p.G1076R; 11:47290681-47290681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.508C>T; p.R170C; 11:47275008-47275008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2681T>G; p.I894S; 11:47288995-47288995	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3139C>T; p.H1047Y; 11:47290284-47290284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1984C>G; p.H662D; 11:47284392-47284392	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.790C>A; p.Q264K; 11:47276029-47276029	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.4543-1G>T; p.?; 11:47324264-47324264	ovary	carcinoma; serous_carcinoma	Unknown
c.4516C>A; p.Q1506K; 11:47323809-47323809	skin	malignant_melanoma	Substitution - Missense
c.1288C>T; p.Q430*; 11:47279077-47279077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1083A>G; p.A361A; 11:47276851-47276851	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1210-2A>T; p.?; 11:47278997-47278997	lung	carcinoma; adenocarcinoma	Unknown
c.1024A>G; p.M342V; 11:47276792-47276792	liver	carcinoma	Substitution - Missense
c.1024A>G; p.M342V; 11:47276792-47276792	liver	carcinoma	Substitution - Missense
c.2524G>A; p.G842S; 11:47285563-47285563	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3046A>T; p.K1016*; 11:47290191-47290191	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3249G>T; p.M1083I; 11:47290704-47290704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.A308T; 11:47276161-47276161	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4877C>T; p.S1626L; 11:47329083-47329083	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.865C>T; p.R289*; 11:47276104-47276104	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1922T>A; p.F641Y; 11:47284237-47284237	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.137T>G; p.F46C; 11:47274637-47274637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1040A>C; p.E347A; 11:47276808-47276808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.903G>A; p.L301L; 11:47276142-47276142	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1245C>T; p.I415I; 11:47279034-47279034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4595G>A; p.R1532Q; 11:47324317-47324317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2985G>A; p.Q995Q; 11:47290035-47290035	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4239C>A; p.I1413I; 11:47311812-47311812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.76G>C; p.D26H; 11:47274576-47274576	breast	carcinoma	Substitution - Missense
c.2224G>A; p.V742M; 11:47285007-47285007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1670A>T; p.N557I; 11:47282581-47282581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1540C>T; p.R514C; 11:47282451-47282451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540C>T; p.R514C; 11:47282451-47282451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1141T>C; p.F381L; 11:47278210-47278210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1705+1G>T; p.?; 11:47282617-47282617	breast	carcinoma	Unknown
c.2320G>A; p.E774K; 11:47285103-47285103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.267G>A; p.T89T; 11:47274767-47274767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4499G>T; p.R1500I; 11:47323792-47323792	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.267G>A; p.T89T; 11:47274767-47274767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1553G>A; p.R518Q; 11:47282464-47282464	skin	malignant_melanoma	Substitution - Missense
c.1553G>A; p.R518Q; 11:47282464-47282464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4270-2A>G; p.?; 11:47315218-47315218	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3763A>G; p.K1255E; 11:47308594-47308594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3837C>T; p.S1279S; 11:47308668-47308668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4795C>T; p.P1599S; 11:47328660-47328660	skin	malignant_melanoma	Substitution - Missense
c.3837C>T; p.S1279S; 11:47308668-47308668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1306A>T; p.S436C; 11:47281590-47281590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.484C>T; p.R162W; 11:47274984-47274984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>C; p.A165P; 11:47274993-47274993	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.3676G>A; p.E1226K; 11:47295972-47295972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4278C>T; p.R1426R; 11:47315228-47315228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4860C>A; p.S1620S; 11:47329066-47329066	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4860C>A; p.S1620S; 11:47329066-47329066	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4671C>T; p.G1557G; 11:47324526-47324526	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4205A>G; p.K1402R; 11:47311778-47311778	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4205A>G; p.K1402R; 11:47311778-47311778	liver	carcinoma	Substitution - Missense
c.3226G>T; p.G1076W; 11:47290681-47290681	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2077C>T; p.Q693*; 11:47284485-47284485	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2318T>G; p.F773C; 11:47285101-47285101	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1350G>A; p.E450E; 11:47281634-47281634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3477C>G; p.I1159M; 11:47293944-47293944	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3281G>A; p.R1094Q; 11:47290736-47290736	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2382C>T; p.P794P; 11:47285165-47285165	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.446C>G; p.S149C; 11:47274946-47274946	breast	carcinoma	Substitution - Missense
c.140C>A; p.P47H; 11:47274640-47274640	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3281G>A; p.R1094Q; 11:47290736-47290736	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4476G>A; p.T1492T; 11:47323769-47323769	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4476G>A; p.T1492T; 11:47323769-47323769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4792+2T>C; p.?; 11:47326809-47326809	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4137C>A; p.I1379I; 11:47309591-47309591	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4530C>G; p.F1510L; 11:47323823-47323823	ovary	other; neoplasm	Substitution - Missense
c.1807G>A; p.E603K; 11:47282914-47282914	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1807G>A; p.E603K; 11:47282914-47282914	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1807G>A; p.E603K; 11:47282914-47282914	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2251G>A; p.V751M; 11:47285034-47285034	thyroid	other; neoplasm	Substitution - Missense
c.4053-10T>G; p.?; 11:47309497-47309497	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3801G>A; p.L1267L; 11:47308632-47308632	breast	carcinoma	Substitution - coding silent
c.4426G>C; p.E1476Q; 11:47323719-47323719	breast	carcinoma	Substitution - Missense
c.591G>A; p.K197K; 11:47275091-47275091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.783C>A; p.V261V; 11:47276022-47276022	breast	carcinoma	Substitution - coding silent
c.1667T>G; p.L556R; 11:47282578-47282578	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2207C>G; p.S736C; 11:47284990-47284990	breast	carcinoma	Substitution - Missense
c.1844C>T; p.S615F; 11:47282951-47282951	skin	malignant_melanoma	Substitution - Missense
c.4125G>A; p.L1375L; 11:47309579-47309579	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.506C>G; p.S169C; 11:47275006-47275006	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4048G>A; p.D1350N; 11:47309397-47309397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4801A>G; p.I1601V; 11:47328666-47328666	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2899C>T; p.R967C; 11:47289949-47289949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2291G>A; p.R764H; 11:47285074-47285074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.518C>T; p.T173I; 11:47275018-47275018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2899C>T; p.R967C; 11:47289949-47289949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2763C>T; p.S921S; 11:47289440-47289440	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190G>T; p.K730N; 11:47284973-47284973	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4632C>T; p.G1544G; 11:47324487-47324487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4927C>T; p.R1643W; 11:47329133-47329133	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3383A>C; p.E1128A; 11:47292564-47292564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3061A>G; p.S1021G; 11:47290206-47290206	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10A>C; p.K4Q; 11:47273924-47273924	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4383C>T; p.C1461C; 11:47323676-47323676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3061A>G; p.S1021G; 11:47290206-47290206	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1292C>T; p.A431V; 11:47281576-47281576	skin	malignant_melanoma	Substitution - Missense
c.3681C>T; p.G1227G; 11:47295977-47295977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3804A>T; p.A1268A; 11:47308635-47308635	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440T>C; p.N480N; 11:47281724-47281724	thyroid	other; neoplasm	Substitution - coding silent
c.1440T>C; p.N480N; 11:47281724-47281724	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2694C>T; p.A898A; 11:47289008-47289008	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.3531_3532delCT; p.S1178fs*18; 11:47295510-47295511	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.279C>A; p.I93I; 11:47274779-47274779	breast	carcinoma	Substitution - coding silent
c.3889T>C; p.W1297R; 11:47309000-47309000	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.4699A>G; p.N1567D; 11:47324554-47324554	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.485G>T; p.R162L; 11:47274985-47274985	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1980G>C; p.L660L; 11:47284388-47284388	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1779C>T; p.R593R; 11:47282886-47282886	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2660G>A; p.G887E; 11:47288974-47288974	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1362C>T; p.I454I; 11:47281646-47281646	skin	malignant_melanoma	Substitution - coding silent
c.1213A>T; p.I405F; 11:47279002-47279002	urinary_tract; bladder	carcinoma	Substitution - Missense
c.555C>G; p.F185L; 11:47275055-47275055	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3110T>C; p.I1037T; 11:47290255-47290255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4323G>T; p.Q1441H; 11:47315273-47315273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>T; p.R518W; 11:47282463-47282463	central_nervous_system; brain	glioma	Substitution - Missense
c.2479C>A; p.R827R; 11:47285518-47285518	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4274G>T; p.G1425V; 11:47315224-47315224	breast	carcinoma	Substitution - Missense
c.2290C>T; p.R764C; 11:47285073-47285073	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2290C>T; p.R764C; 11:47285073-47285073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598C>T; p.P533L; 11:47282509-47282509	breast	carcinoma	Substitution - Missense
c.3984C>T; p.F1328F; 11:47309333-47309333	skin	malignant_melanoma	Substitution - coding silent
c.1665C>T; p.I555I; 11:47282576-47282576	skin	malignant_melanoma	Substitution - coding silent
c.3757T>A; p.F1253I; 11:47296053-47296053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2247G>A; p.S749S; 11:47285030-47285030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4079G>A; p.R1360Q; 11:47309533-47309533	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2149G>A; p.A717T; 11:47284557-47284557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.781G>A; p.V261I; 11:47276020-47276020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4713G>A; p.M1571I; 11:47324568-47324568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659G>A; p.G887R; 11:47288973-47288973	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4576A>G; p.M1526V; 11:47324298-47324298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1081G>A; p.A361T; 11:47276849-47276849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3018G>T; p.K1006N; 11:47290163-47290163	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2563C>T; p.R855W; 11:47286444-47286444	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.426G>A; p.L142L; 11:47274926-47274926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1280A>G; p.H427R; 11:47279069-47279069	prostate	carcinoma	Substitution - Missense
c.3471C>T; p.S1157S; 11:47293938-47293938	skin	malignant_melanoma	Substitution - coding silent
c.4742A>G; p.H1581R; 11:47326757-47326757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2634G>A; p.T878T; 11:47286515-47286515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2634G>A; p.T878T; 11:47286515-47286515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2634G>A; p.T878T; 11:47286515-47286515	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3138C>A; p.T1046T; 11:47290283-47290283	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2564G>A; p.R855Q; 11:47286445-47286445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1862+1G>T; p.?; 11:47282970-47282970	lung	carcinoma; adenocarcinoma	Unknown
c.4262C>T; p.A1421V; 11:47311835-47311835	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3770A>G; p.H1257R; 11:47308601-47308601	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4252G>A; p.D1418N; 11:47311825-47311825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4306C>T; p.R1436W; 11:47315256-47315256	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1419C>A; p.F473L; 11:47281703-47281703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3798G>C; p.K1266N; 11:47308629-47308629	breast	carcinoma	Substitution - Missense
c.4818C>T; p.S1606S; 11:47328683-47328683	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2557C>A; p.L853I; 11:47286438-47286438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2218C>T; p.P740S; 11:47285001-47285001	skin	malignant_melanoma	Substitution - Missense
c.214C>T; p.R72W; 11:47274714-47274714	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2218C>T; p.P740S; 11:47285001-47285001	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4355_4356AC>TT; p.N1452I; 11:47315305-47315306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2087C>T; p.P696L; 11:47284495-47284495	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.2087C>T; p.P696L; 11:47284495-47284495	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.4827C>T; p.Y1609Y; 11:47328692-47328692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4859C>T; p.S1620F; 11:47329065-47329065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.4554G>A; p.L1518L; 11:47324276-47324276	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4365C>A; p.I1455I; 11:47315315-47315315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2464G>A; p.A822T; 11:47285503-47285503	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4365C>A; p.I1455I; 11:47315315-47315315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.136T>C; p.F46L; 11:47274636-47274636	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4572C>T; p.D1524D; 11:47324294-47324294	liver	carcinoma	Substitution - coding silent
c.3980C>T; p.A1327V; 11:47309329-47309329	skin	malignant_melanoma	Substitution - Missense
c.1686C>T; p.A562A; 11:47282597-47282597	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2231C>T; p.P744L; 11:47285014-47285014	skin; arm	malignant_melanoma	Substitution - Missense
c.2425C>A; p.L809M; 11:47285464-47285464	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.956A>G; p.E319G; 11:47276195-47276195	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4135A>G; p.I1379V; 11:47309589-47309589	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.4584C>T; p.R1528R; 11:47324306-47324306	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3316C>T; p.L1106L; 11:47290771-47290771	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1234G>A; p.V412M; 11:47279023-47279023	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>A; p.G844G; 11:47285571-47285571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2532G>A; p.G844G; 11:47285571-47285571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1539G>C; p.L513L; 11:47282450-47282450	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4583G>A; p.R1528H; 11:47324305-47324305	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4861G>A; p.V1621I; 11:47329067-47329067	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1106C>T; p.A369V; 11:47278175-47278175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4861G>A; p.V1621I; 11:47329067-47329067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4861G>A; p.V1621I; 11:47329067-47329067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4583G>A; p.R1528H; 11:47324305-47324305	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.76G>A; p.D26N; 11:47274576-47274576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.899C>T; p.P300L; 11:47276138-47276138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.910C>G; p.L304V; 11:47276149-47276149	breast	carcinoma	Substitution - Missense
c.690G>A; p.S230S; 11:47275929-47275929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.808G>A; p.E270K; 11:47276047-47276047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4846G>A; p.E1616K; 11:47329052-47329052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4928G>A; p.R1643Q; 11:47329134-47329134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1970T>C; p.V657A; 11:47284378-47284378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4158G>A; p.K1386K; 11:47309612-47309612	pancreas	carcinoma	Substitution - coding silent
c.1048T>A; p.F350I; 11:47276816-47276816	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4592C>T; p.A1531V; 11:47324314-47324314	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4653G>A; p.L1551L; 11:47324508-47324508	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4653G>A; p.L1551L; 11:47324508-47324508	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2904G>A; p.R968R; 11:47289954-47289954	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2624A>T; p.E875V; 11:47286505-47286505	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1717C>T; p.P573S; 11:47282824-47282824	skin	malignant_melanoma	Substitution - Missense
c.4414G>A; p.G1472R; 11:47323707-47323707	breast	carcinoma	Substitution - Missense
c.4817G>A; p.S1606N; 11:47328682-47328682	breast	carcinoma	Substitution - Missense
c.299C>T; p.S100F; 11:47274799-47274799	skin	malignant_melanoma	Substitution - Missense
c.2412-1G>T; p.?; 11:47285450-47285450	lung	carcinoma; adenocarcinoma	Unknown
c.4765C>T; p.R1589*; 11:47326780-47326780	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4222G>C; p.V1408L; 11:47311795-47311795	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2230C>T; p.P744S; 11:47285013-47285013	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1881T>C; p.D627D; 11:47284196-47284196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1363C>T; p.P455S; 11:47281647-47281647	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.388G>T; p.E130*; 11:47274888-47274888	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.914G>A; p.G305D; 11:47276153-47276153	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1059C>T; p.I353I; 11:47276827-47276827	skin	malignant_melanoma	Substitution - coding silent
c.1874G>A; p.S625N; 11:47284189-47284189	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3903G>A; p.E1301E; 11:47309014-47309014	skin	malignant_melanoma	Substitution - coding silent
c.1810G>A; p.A604T; 11:47282917-47282917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3293C>T; p.A1098V; 11:47290748-47290748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2638T>A; p.F880I; 11:47286519-47286519	skin	malignant_melanoma	Substitution - Missense
c.1443T>A; p.D481E; 11:47281727-47281727	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2022C>T; p.D674D; 11:47284430-47284430	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2917G>A; p.E973K; 11:47289967-47289967	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3976G>A; p.D1326N; 11:47309325-47309325	breast	carcinoma	Substitution - Missense
c.4099G>A; p.E1367K; 11:47309553-47309553	breast	carcinoma	Substitution - Missense
c.2219C>T; p.P740L; 11:47285002-47285002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.674G>A; p.R225Q; 11:47275913-47275913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.175G>A; p.E59K; 11:47274675-47274675	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.175G>A; p.E59K; 11:47274675-47274675	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4918A>C; p.T1640P; 11:47329124-47329124	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.789G>A; p.G263G; 11:47276028-47276028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1033C>T; p.P345S; 11:47276801-47276801	skin	malignant_melanoma	Substitution - Missense
c.1800G>C; p.Q600H; 11:47282907-47282907	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4496G>A; p.R1499H; 11:47323789-47323789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4105C>T; p.R1369C; 11:47309559-47309559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2095C>T; p.R699C; 11:47284503-47284503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.604T>C; p.C202R; 11:47275104-47275104	skin	malignant_melanoma	Substitution - Missense
c.3331T>C; p.L1111L; 11:47290786-47290786	pancreas	carcinoma	Substitution - coding silent
c.1601G>A; p.R534Q; 11:47282512-47282512	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 11:47274610-47274610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3934A>C; p.K1312Q; 11:47309283-47309283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3103G>A; p.A1035T; 11:47290248-47290248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2903G>A; p.R968Q; 11:47289953-47289953	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.V502M; 11:47282415-47282415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4364T>C; p.I1455T; 11:47315314-47315314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3424G>T; p.V1142L; 11:47293891-47293891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2767A>G; p.T923A; 11:47289444-47289444	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2885A>G; p.N962S; 11:47289935-47289935	skin	malignant_melanoma	Substitution - Missense
c.3708C>T; p.G1236G; 11:47296004-47296004	skin	malignant_melanoma	Substitution - coding silent
c.4378-1G>C; p.?; 11:47323670-47323670	prostate	carcinoma; adenocarcinoma	Unknown
c.4909G>A; p.D1637N; 11:47329115-47329115	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.81C>T; p.S27S; 11:47274581-47274581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4909G>A; p.D1637N; 11:47329115-47329115	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3401C>T; p.A1134V; 11:47292582-47292582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4282C>A; p.L1428I; 11:47315232-47315232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2698C>T; p.P900S; 11:47289012-47289012	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3625C>A; p.L1209I; 11:47295921-47295921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>T; p.R256L; 11:47276006-47276006	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3660T>G; p.G1220G; 11:47295956-47295956	breast	carcinoma	Substitution - coding silent
c.850_853delCTTC; p.L284fs*8; 11:47276089-47276092	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.457G>A; p.V153M; 11:47274957-47274957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2785C>A; p.P929T; 11:47289462-47289462	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4192C>T; p.R1398C; 11:47311765-47311765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1041G>A; p.E347E; 11:47276809-47276809	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.295C>T; p.R99C; 11:47274795-47274795	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.295C>T; p.R99C; 11:47274795-47274795	stomach	adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation