Entrez Gene

Basic Information
Gene ID	9656
Name	MDC1
Synonymous	mediator of DNA-damage checkpoint 1;MDC1;mediator of DNA-damage checkpoint 1
Definition	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
Position	6p21.3
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.

The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

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There is no record for MDC1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
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

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]