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	9656
Symbol	MDC1
Synonymous	NFBD1
Full name	mediator of DNA-damage checkpoint 1
Gene description	homologue to Drosophila photoreceptor protein calphotin\|mediator of DNA damage checkpoint 1\|mediator of DNA damage checkpoint protein 1\|nuclear factor with BRCT domains 1
Cytoband	6p21.3
Gene type	protein-coding
Synonymous	MIM:607593; HGNC:HGNC:21163; Ensembl:ENSG00000137337; HPRD:16252; Vega:OTTHUMG00000031075

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.3112C>G; p.L1038V; 6:30706071-30706071	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4019A>G; p.Q1340R; 6:30705164-30705164	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.4019A>G; p.Q1340R; 6:30705164-30705164	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3414T>C; p.T1138T; 6:30705769-30705769	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6174C>T; p.P2058P; 6:30700561-30700561	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1867G>T; p.V623L; 6:30712075-30712075	liver	carcinoma	Substitution - Missense
c.5955C>T; p.D1985D; 6:30702788-30702788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.621C>A; p.G207G; 6:30713321-30713321	stomach	adenocarcinoma	Substitution - coding silent
c.2023G>T; p.E675*; 6:30711919-30711919	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3356C>G; p.P1119R; 6:30705827-30705827	thyroid	other; neoplasm	Substitution - Missense
c.1375G>A; p.E459K; 6:30712567-30712567	skin	malignant_melanoma	Substitution - Missense
c.4374C>T; p.S1458S; 6:30704809-30704809	skin	malignant_melanoma	Substitution - coding silent
c.1627G>A; p.V543M; 6:30712315-30712315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5754T>C; p.G1918G; 6:30703215-30703215	skin	malignant_melanoma	Substitution - coding silent
c.5201C>T; p.A1734V; 6:30703982-30703982	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6141T>G; p.P2047P; 6:30700594-30700594	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4672G>T; p.G1558C; 6:30704511-30704511	urinary_tract; bladder	carcinoma	Substitution - Missense
c.812A>G; p.D271G; 6:30713130-30713130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1087G>C; p.A363P; 6:30712855-30712855	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.265C>A; p.L89I; 6:30714055-30714055	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5177C>A; p.A1726D; 6:30704006-30704006	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3288A>G; p.S1096S; 6:30705895-30705895	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5350C>T; p.H1784Y; 6:30703833-30703833	skin	malignant_melanoma	Substitution - Missense
c.3797A>C; p.Y1266S; 6:30705386-30705386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2411G>T; p.G804V; 6:30708168-30708168	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5100_5101CC>TT; p.Q1701*; 6:30704082-30704083	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2309C>T; p.T770M; 6:30708270-30708270	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3285C>T; p.S1095S; 6:30705898-30705898	skin	malignant_melanoma	Substitution - coding silent
c.1218C>T; p.D406D; 6:30712724-30712724	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4667C>A; p.T1556N; 6:30704516-30704516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1933C>A; p.L645I; 6:30712009-30712009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1526A>C; p.H509P; 6:30712416-30712416	breast	carcinoma	Substitution - Missense
c.5123A>T; p.Q1708L; 6:30704060-30704060	liver	carcinoma	Substitution - Missense
c.3775C>T; p.P1259S; 6:30705408-30705408	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.262A>T; p.I88F; 6:30714058-30714058	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3411C>G; p.V1137V; 6:30705772-30705772	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5390C>T; p.S1797F; 6:30703793-30703793	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5700G>T; p.V1900V; 6:30703269-30703269	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5079G>A; p.P1693P; 6:30704104-30704104	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4596C>T; p.P1532P; 6:30704587-30704587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5700G>T; p.V1900V; 6:30703269-30703269	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5008G>A; p.V1670I; 6:30704175-30704175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.772C>T; p.L258F; 6:30713170-30713170	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1525C>T; p.H509Y; 6:30712417-30712417	skin	malignant_melanoma	Substitution - Missense
c.1238C>T; p.A413V; 6:30712704-30712704	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5798G>A; p.R1933Q; 6:30703171-30703171	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4507G>A; p.D1503N; 6:30704676-30704676	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1174G>A; p.E392K; 6:30712768-30712768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3289G>T; p.E1097*; 6:30705894-30705894	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2957C>T; p.S986F; 6:30707622-30707622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4814C>G; p.S1605C; 6:30704369-30704369	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4984C>T; p.P1662S; 6:30704199-30704199	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3676C>G; p.Q1226E; 6:30705507-30705507	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5771C>T; p.S1924F; 6:30703198-30703198	skin	malignant_melanoma	Substitution - Missense
c.3055A>G; p.R1019G; 6:30707413-30707413	liver	carcinoma	Substitution - Missense
c.3061A>C; p.R1021R; 6:30707407-30707407	liver	carcinoma	Substitution - coding silent
c.3061A>C; p.R1021R; 6:30707407-30707407	liver	carcinoma	Substitution - coding silent
c.3415C>T; p.P1139S; 6:30705768-30705768	skin	malignant_melanoma	Substitution - Missense
c.4689C>G; p.S1563S; 6:30704494-30704494	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2207G>T; p.S736I; 6:30711426-30711426	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.581C>T; p.P194L; 6:30713654-30713654	skin	malignant_melanoma	Substitution - Missense
c.4689C>G; p.S1563S; 6:30704494-30704494	liver	carcinoma	Substitution - coding silent
c.6175C>A; p.L2059I; 6:30700560-30700560	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2020A>G; p.R674G; 6:30711922-30711922	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4912A>G; p.T1638A; 6:30704271-30704271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5914G>A; p.D1972N; 6:30702829-30702829	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5914G>A; p.D1972N; 6:30702829-30702829	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4111C>T; p.P1371S; 6:30705072-30705072	skin	malignant_melanoma	Substitution - Missense
c.2077G>T; p.D693Y; 6:30711718-30711718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.838A>G; p.N280D; 6:30713104-30713104	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3696A>C; p.K1232N; 6:30705487-30705487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6079C>T; p.P2027S; 6:30702576-30702576	skin	malignant_melanoma	Substitution - Missense
c.5500C>T; p.Q1834*; 6:30703683-30703683	thyroid	carcinoma; medullary_carcinoma	Substitution - Nonsense
c.3735C>T; p.P1245P; 6:30705448-30705448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3036A>C; p.P1012P; 6:30707432-30707432	breast	carcinoma	Substitution - coding silent
c.5333T>G; p.L1778R; 6:30703850-30703850	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.720T>G; p.G240G; 6:30713222-30713222	breast	carcinoma	Substitution - coding silent
c.5604G>T; p.Q1868H; 6:30703496-30703496	thyroid	other; neoplasm	Substitution - Missense
c.3471C>G; p.T1157T; 6:30705712-30705712	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1256T>A; p.L419Q; 6:30712686-30712686	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4375A>C; p.T1459P; 6:30704808-30704808	breast	carcinoma	Substitution - Missense
c.4781C>A; p.S1594Y; 6:30704402-30704402	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3783T>C; p.T1261T; 6:30705400-30705400	thyroid	other; neoplasm	Substitution - coding silent
c.3783T>C; p.T1261T; 6:30705400-30705400	ovary	other; neoplasm	Substitution - coding silent
c.3783T>C; p.T1261T; 6:30705400-30705400	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2980G>T; p.G994*; 6:30707599-30707599	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1495G>A; p.V499M; 6:30712447-30712447	skin	malignant_melanoma	Substitution - Missense
c.4184G>T; p.R1395I; 6:30704999-30704999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5917C>T; p.P1973S; 6:30702826-30702826	skin	malignant_melanoma	Substitution - Missense
c.3612C>T; p.P1204P; 6:30705571-30705571	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6246C>T; p.S2082S; 6:30700489-30700489	skin	malignant_melanoma	Substitution - coding silent
c.2568A>T; p.K856N; 6:30708011-30708011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5436G>C; p.K1812N; 6:30703747-30703747	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3566G>T; p.G1189V; 6:30705617-30705617	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3104A>C; p.D1035A; 6:30706079-30706079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3104A>C; p.D1035A; 6:30706079-30706079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5569G>A; p.V1857M; 6:30703531-30703531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2819T>C; p.V940A; 6:30707760-30707760	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5057C>A; p.S1686Y; 6:30704126-30704126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.344T>C; p.L115P; 6:30713976-30713976	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.549_550insA; p.S184fs*14; 6:30713685-30713686	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.301C>T; p.L101L; 6:30714019-30714019	skin	malignant_melanoma	Substitution - coding silent
c.3557T>C; p.V1186A; 6:30705626-30705626	thyroid	other; neoplasm	Substitution - Missense
c.3557T>C; p.V1186A; 6:30705626-30705626	liver	carcinoma	Substitution - Missense
c.3557T>C; p.V1186A; 6:30705626-30705626	thyroid	other; neoplasm	Substitution - Missense
c.2283G>A; p.E761E; 6:30708296-30708296	skin	malignant_melanoma	Substitution - coding silent
c.1032C>T; p.V344V; 6:30712910-30712910	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3581C>G; p.S1194C; 6:30705602-30705602	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.360G>T; p.L120F; 6:30713960-30713960	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.884C>T; p.P295L; 6:30713058-30713058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1220A>C; p.E407A; 6:30712722-30712722	skin	malignant_melanoma	Substitution - Missense
c.860T>C; p.V287A; 6:30713082-30713082	skin	malignant_melanoma	Substitution - Missense
c.136G>A; p.D46N; 6:30715040-30715040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4553G>A; p.R1518K; 6:30704630-30704630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.A417V; 6:30712692-30712692	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4277C>A; p.P1426H; 6:30704906-30704906	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1603A>G; p.I535V; 6:30712339-30712339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3717C>G; p.T1239T; 6:30705466-30705466	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3160A>G; p.N1054D; 6:30706023-30706023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3144A>C; p.P1048P; 6:30706039-30706039	breast	carcinoma	Substitution - coding silent
c.4406C>A; p.P1469H; 6:30704777-30704777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.9C>T; p.D3D; 6:30715167-30715167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3560C>G; p.T1187S; 6:30705623-30705623	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.981C>T; p.I327I; 6:30712961-30712961	skin	malignant_melanoma	Substitution - coding silent
c.126A>G; p.G42G; 6:30715050-30715050	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1726G>A; p.D576N; 6:30712216-30712216	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5890C>T; p.P1964S; 6:30702853-30702853	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.5890C>T; p.P1964S; 6:30702853-30702853	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.5890C>T; p.P1964S; 6:30702853-30702853	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3367G>C; p.A1123P; 6:30705816-30705816	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3155_3156CC>TA; p.P1052L; 6:30706027-30706028	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.642C>T; p.F214F; 6:30713300-30713300	skin	malignant_melanoma	Substitution - coding silent
c.1835C>T; p.A612V; 6:30712107-30712107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.139T>G; p.F47V; 6:30714181-30714181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4373C>A; p.S1458Y; 6:30704810-30704810	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2841G>A; p.Q947Q; 6:30707738-30707738	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2124G>A; p.L708L; 6:30711671-30711671	central_nervous_system; brain	glioma	Substitution - coding silent
c.3323G>T; p.R1108I; 6:30705860-30705860	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5563-2A>G; p.?; 6:30703539-30703539	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3323G>T; p.R1108I; 6:30705860-30705860	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.5563-2A>G; p.?; 6:30703539-30703539	ovary	carcinoma; serous_carcinoma	Unknown
c.356A>G; p.E119G; 6:30713964-30713964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4904C>T; p.S1635F; 6:30704279-30704279	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2809G>T; p.V937L; 6:30707770-30707770	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2265C>T; p.F755F; 6:30708314-30708314	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5297C>T; p.S1766F; 6:30703886-30703886	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2265C>T; p.F755F; 6:30708314-30708314	skin	malignant_melanoma	Substitution - coding silent
c.480G>A; p.Q160Q; 6:30713840-30713840	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5831G>A; p.G1944E; 6:30703138-30703138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5573C>T; p.T1858I; 6:30703527-30703527	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4373C>G; p.S1458C; 6:30704810-30704810	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4006A>C; p.T1336P; 6:30705177-30705177	breast	carcinoma	Substitution - Missense
c.4206G>A; p.K1402K; 6:30704977-30704977	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4971C>G; p.A1657A; 6:30704212-30704212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5948T>C; p.L1983P; 6:30702795-30702795	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>C; p.S372T; 6:30712827-30712827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3523G>A; p.D1175N; 6:30705660-30705660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1111G>A; p.E371K; 6:30712831-30712831	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.656A>T; p.D219V; 6:30713286-30713286	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3875G>A; p.R1292Q; 6:30705308-30705308	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.4756C>T; p.Q1586*; 6:30704427-30704427	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3875G>A; p.R1292Q; 6:30705308-30705308	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3073_3075delAAG; p.K1025delK; 6:30707393-30707395	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.5270G>T; p.R1757I; 6:30703913-30703913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5380G>A; p.A1794T; 6:30703803-30703803	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4685G>A; p.R1562K; 6:30704498-30704498	urinary_tract; bladder	carcinoma	Substitution - Missense
c.707C>T; p.A236V; 6:30713235-30713235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1410C>T; p.V470V; 6:30712532-30712532	skin	malignant_melanoma	Substitution - coding silent
c.1471C>T; p.P491S; 6:30712471-30712471	skin	malignant_melanoma	Substitution - Missense
c.2416G>T; p.G806W; 6:30708163-30708163	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3909delC; p.K1304fs*57; 6:30705274-30705274	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2416G>T; p.G806W; 6:30708163-30708163	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4785G>C; p.R1595R; 6:30704398-30704398	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5069G>A; p.R1690K; 6:30704114-30704114	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3951C>A; p.S1317S; 6:30705232-30705232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3649C>T; p.R1217*; 6:30705534-30705534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3358G>T; p.A1120S; 6:30705825-30705825	thyroid	other; neoplasm	Substitution - Missense
c.4247C>T; p.P1416L; 6:30704936-30704936	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3526C>T; p.Q1176*; 6:30705657-30705657	ovary	other; neoplasm	Substitution - Nonsense
c.3983C>T; p.T1328I; 6:30705200-30705200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5696G>T; p.G1899V; 6:30703273-30703273	ovary	other; neoplasm	Substitution - Missense
c.3411C>T; p.V1137V; 6:30705772-30705772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.691G>A; p.E231K; 6:30713251-30713251	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.446A>C; p.E149A; 6:30713874-30713874	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5624G>A; p.R1875K; 6:30703476-30703476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2559C>T; p.T853T; 6:30708020-30708020	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.6268T>C; p.*2090R; 6:30700467-30700467	stomach	carcinoma; intestinal_adenocarcinoma	Nonstop extension
c.5390C>G; p.S1797C; 6:30703793-30703793	ovary	other; neoplasm	Substitution - Missense
c.5390C>G; p.S1797C; 6:30703793-30703793	ovary	other; neoplasm	Substitution - Missense
c.487C>T; p.L163L; 6:30713833-30713833	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.923G>T; p.R308M; 6:30713019-30713019	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.574A>G; p.I192V; 6:30713661-30713661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4150A>C; p.T1384P; 6:30705033-30705033	breast	carcinoma	Substitution - Missense
c.4168C>T; p.R1390W; 6:30705015-30705015	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5197C>T; p.L1733F; 6:30703986-30703986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.104A>G; p.H35R; 6:30715072-30715072	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4818C>G; p.V1606V; 6:30704365-30704365	breast	carcinoma	Substitution - coding silent
c.2471T>G; p.V824G; 6:30708108-30708108	breast	carcinoma	Substitution - Missense
c.4398C>G; p.T1466T; 6:30704785-30704785	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5432G>A; p.R1811H; 6:30703751-30703751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3847C>A; p.P1283T; 6:30705336-30705336	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.599G>A; p.G200E; 6:30713343-30713343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3847C>A; p.P1283T; 6:30705336-30705336	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.4224C>T; p.V1408V; 6:30704959-30704959	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5563-2A>T; p.?; 6:30703539-30703539	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5766G>T; p.E1922D; 6:30703203-30703203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4978C>T; p.L1660F; 6:30704205-30704205	breast	carcinoma	Substitution - Missense
c.5544G>T; p.E1848D; 6:30703639-30703639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5459C>T; p.S1820L; 6:30703724-30703724	skin	malignant_melanoma	Substitution - Missense
c.4358C>T; p.P1453L; 6:30704825-30704825	skin	malignant_melanoma	Substitution - Missense
c.4095A>G; p.S1365S; 6:30705088-30705088	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4538G>A; p.R1513Q; 6:30704645-30704645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949C>T; p.H317Y; 6:30712993-30712993	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5128A>T; p.I1710F; 6:30704055-30704055	skin	malignant_melanoma	Substitution - Missense
c.4618T>C; p.S1540P; 6:30704565-30704565	thyroid	other; neoplasm	Substitution - Missense
c.706G>T; p.A236S; 6:30713236-30713236	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.514G>A; p.V172I; 6:30713806-30713806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5699T>C; p.V1900A; 6:30703270-30703270	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3957C>T; p.V1319V; 6:30705226-30705226	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3278C>T; p.P1093L; 6:30705905-30705905	skin	malignant_melanoma	Substitution - Missense
c.3285C>A; p.S1095S; 6:30705898-30705898	breast	carcinoma	Substitution - coding silent
c.4978C>A; p.L1660I; 6:30704205-30704205	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6157C>T; p.L2053L; 6:30700578-30700578	skin	malignant_melanoma	Substitution - coding silent
c.267C>T; p.L89L; 6:30714053-30714053	thyroid	carcinoma	Substitution - coding silent
c.4740T>C; p.P1580P; 6:30704443-30704443	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5971C>T; p.R1991W; 6:30702772-30702772	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.5614G>A; p.E1872K; 6:30703486-30703486	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2986C>T; p.P996S; 6:30707593-30707593	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4102C>T; p.P1368S; 6:30705081-30705081	skin	malignant_melanoma	Substitution - Missense
c.2189T>C; p.L730P; 6:30711444-30711444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.518-7T>C; p.?; 6:30713724-30713724	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.4598C>A; p.A1533E; 6:30704585-30704585	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2924A>C; p.D975A; 6:30707655-30707655	breast	carcinoma	Substitution - Missense
c.1569A>G; p.T523T; 6:30712373-30712373	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2573A>G; p.D858G; 6:30708006-30708006	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5989G>A; p.E1997K; 6:30702754-30702754	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4376C>T; p.T1459I; 6:30704807-30704807	skin	malignant_melanoma	Substitution - Missense
c.5568C>T; p.V1856V; 6:30703532-30703532	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5788C>G; p.R1930G; 6:30703181-30703181	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.5283G>A; p.V1761V; 6:30703900-30703900	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4439G>A; p.R1480K; 6:30704744-30704744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3127C>T; p.P1043S; 6:30706056-30706056	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4166C>A; p.S1389Y; 6:30705017-30705017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4189A>C; p.N1397H; 6:30704994-30704994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4562G>A; p.R1521Q; 6:30704621-30704621	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1403_1405delAAG; p.E468delE; 6:30712537-30712539	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.5608delG; p.E1870fs*101; 6:30703492-30703492	NS	malignant_melanoma	Deletion - Frameshift
c.5508A>G; p.T1836T; 6:30703675-30703675	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5307C>T; p.A1769A; 6:30703876-30703876	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4405C>T; p.P1469S; 6:30704778-30704778	breast	carcinoma	Substitution - Missense
c.6266C>A; p.T2089N; 6:30700469-30700469	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.4600G>T; p.A1534S; 6:30704583-30704583	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3041C>T; p.A1014V; 6:30707427-30707427	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3787G>C; p.E1263Q; 6:30705396-30705396	breast	carcinoma	Substitution - Missense
c.1929_1930delGA; p.N644fs*41; 6:30712012-30712013	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3855G>C; p.V1285V; 6:30705328-30705328	thyroid	other; neoplasm	Substitution - coding silent
c.3855G>C; p.V1285V; 6:30705328-30705328	breast	carcinoma	Substitution - coding silent
c.509A>C; p.E170A; 6:30713811-30713811	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1118A>T; p.Q373L; 6:30712824-30712824	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.606C>A; p.S202S; 6:30713336-30713336	thyroid	other; neoplasm	Substitution - coding silent
c.2306A>G; p.D769G; 6:30708273-30708273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4030C>A; p.P1344T; 6:30705153-30705153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3752A>G; p.Q1251R; 6:30705431-30705431	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5644C>T; p.R1882*; 6:30703456-30703456	pancreas	carcinoma	Substitution - Nonsense
c.3774G>A; p.Q1258Q; 6:30705409-30705409	thyroid	other; neoplasm	Substitution - coding silent
c.3821A>G; p.N1274S; 6:30705362-30705362	breast	carcinoma	Substitution - Missense
c.3774G>A; p.Q1258Q; 6:30705409-30705409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3222C>G; p.I1074M; 6:30705961-30705961	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4768C>T; p.P1590S; 6:30704415-30704415	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5107C>T; p.P1703S; 6:30704076-30704076	skin	malignant_melanoma	Substitution - Missense
c.3774_3775GC>AT; p.P1259S; 6:30705408-30705409	pancreas	carcinoma	Substitution - Missense
c.2635G>C; p.E879Q; 6:30707944-30707944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2635G>C; p.E879Q; 6:30707944-30707944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2954C>T; p.P985L; 6:30707625-30707625	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2222-1G>T; p.?; 6:30708358-30708358	lung	carcinoma; adenocarcinoma	Unknown
c.3263A>T; p.E1088V; 6:30705920-30705920	skin	malignant_melanoma	Substitution - Missense
c.5452A>G; p.M1818V; 6:30703731-30703731	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.207A>G; p.P69P; 6:30714113-30714113	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4658C>T; p.S1553F; 6:30704525-30704525	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3529C>T; p.P1177S; 6:30705654-30705654	breast	carcinoma	Substitution - Missense
c.932G>A; p.G311E; 6:30713010-30713010	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation