Entrez Gene

Basic Information
Gene ID	545
Name	ATR
Synonymous	ATR serine/threonine kinase;ATR;ATR serine/threonine kinase
Definition	FRAP-related protein-1\|MEC1, mitosis entry checkpoint 1, homolog\|ataxia telangiectasia and Rad3-related protein\|serine/threonine-protein kinase ATR
Position	3q23
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

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.22.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3945+1G>T; p.?; 3:142535079-142535079	lung	carcinoma; adenocarcinoma	Unknown
c.5251A>G; p.T1751A; 3:142503399-142503399	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.5954C>T; p.P1985L; 3:142493256-142493256	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4235G>A; p.R1412Q; 3:142522759-142522759	liver	carcinoma	Substitution - Missense
c.6698G>C; p.S2233T; 3:142466523-142466523	skin	malignant_melanoma	Substitution - Missense
c.4235G>A; p.R1412Q; 3:142522759-142522759	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2083A>G; p.K695E; 3:142556135-142556135	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6990T>A; p.D2330E; 3:142465148-142465148	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6531G>A; p.W2177*; 3:142469358-142469358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7610A>G; p.E2537G; 3:142457649-142457649	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7610A>G; p.E2537G; 3:142457649-142457649	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3767C>T; p.P1256L; 3:142536160-142536160	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.5381-1G>A; p.?; 3:142498775-142498775	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.3475A>T; p.M1159L; 3:142541010-142541010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3152G>A; p.R1051H; 3:142549498-142549498	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6961T>A; p.F2321I; 3:142465177-142465177	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7023C>G; p.F2341L; 3:142465115-142465115	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2116G>T; p.E706*; 3:142556102-142556102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5071G>A; p.G1691R; 3:142505264-142505264	central_nervous_system; brain	glioma	Substitution - Missense
c.5830C>T; p.L1944F; 3:142496429-142496429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2168A>C; p.Y723S; 3:142556050-142556050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6705C>T; p.S2235S; 3:142466516-142466516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7547C>T; p.T2516I; 3:142457712-142457712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5801C>A; p.A1934D; 3:142496458-142496458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5639C>T; p.S1880F; 3:142497112-142497112	skin; arm	malignant_melanoma	Substitution - Missense
c.397C>T; p.L133F; 3:142563005-142563005	skin	malignant_melanoma	Substitution - Missense
c.5151T>C; p.D1717D; 3:142505184-142505184	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3151C>T; p.R1051C; 3:142549499-142549499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5151T>C; p.D1717D; 3:142505184-142505184	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4814C>T; p.P1605L; 3:142512298-142512298	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4814C>T; p.P1605L; 3:142512298-142512298	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6991G>T; p.D2331Y; 3:142465147-142465147	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6110A>G; p.D2037G; 3:142485251-142485251	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.179A>G; p.D60G; 3:142566234-142566234	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.442G>T; p.E148*; 3:142562960-142562960	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.877G>T; p.E293*; 3:142562525-142562525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7192+9A>G; p.?; 3:142461931-142461931	liver	carcinoma	Unknown
c.6005C>G; p.A2002G; 3:142493205-142493205	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.6005C>G; p.A2002G; 3:142493205-142493205	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.7192+9A>G; p.?; 3:142461931-142461931	liver	carcinoma	Unknown
c.6005C>G; p.A2002G; 3:142493205-142493205	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.6005C>G; p.A2002G; 3:142493205-142493205	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.5246T>C; p.L1749P; 3:142503404-142503404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7133A>T; p.E2378V; 3:142461999-142461999	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7192+9A>G; p.?; 3:142461931-142461931	liver	carcinoma	Unknown
c.7192+9A>G; p.?; 3:142461931-142461931	liver	carcinoma	Unknown
c.3245G>A; p.R1082H; 3:142547837-142547837	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7640G>A; p.R2547Q; 3:142457619-142457619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3245G>A; p.R1082H; 3:142547837-142547837	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7132G>T; p.E2378*; 3:142462000-142462000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3542G>T; p.G1181V; 3:142540943-142540943	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2392G>C; p.D798H; 3:142553965-142553965	NS	NS	Substitution - Missense
c.6465A>G; p.E2155E; 3:142469424-142469424	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.542A>G; p.Q181R; 3:142562860-142562860	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3600T>G; p.V1200V; 3:142538607-142538607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2320delA; p.I774fs*5; 3:142555898-142555898	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6607C>A; p.H2203N; 3:142468014-142468014	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3431G>A; p.G1144D; 3:142542684-142542684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2320delA; p.I774fs*5; 3:142555898-142555898	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2320delA; p.I774fs*5; 3:142555898-142555898	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2637C>T; p.A879A; 3:142553395-142553395	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4838A>C; p.K1613T; 3:142512274-142512274	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2488C>A; p.H830N; 3:142553869-142553869	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6458A>G; p.H2153R; 3:142469431-142469431	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2320_2321insA; p.I774fs*3; 3:142555897-142555898	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2320_2321insA; p.I774fs*3; 3:142555897-142555898	liver	carcinoma	Insertion - Frameshift
c.7282C>A; p.L2428I; 3:142459294-142459294	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.7313A>G; p.E2438G; 3:142459263-142459263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1950G>A; p.E650E; 3:142556511-142556511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7313A>G; p.E2438G; 3:142459263-142459263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6114G>A; p.G2038G; 3:142485247-142485247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7752C>A; p.V2584V; 3:142453137-142453137	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.249T>A; p.F83L; 3:142566164-142566164	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.219G>A; p.Q73Q; 3:142566194-142566194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6167A>T; p.N2056I; 3:142485194-142485194	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2282C>T; p.S761F; 3:142555936-142555936	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7646C>T; p.P2549L; 3:142457613-142457613	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4102C>T; p.R1368*; 3:142524043-142524043	breast	carcinoma	Substitution - Nonsense
c.7646C>T; p.P2549L; 3:142457613-142457613	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1230G>C; p.E410D; 3:142561362-142561362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2099C>T; p.S700F; 3:142556119-142556119	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4411T>C; p.W1471R; 3:142515487-142515487	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2196C>G; p.F732L; 3:142556022-142556022	liver	carcinoma	Substitution - Missense
c.632T>C; p.M211T; 3:142562770-142562770	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>C; p.M211T; 3:142562770-142562770	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>C; p.M211T; 3:142562770-142562770	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>C; p.M211T; 3:142562770-142562770	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.6930G>C; p.K2310N; 3:142465208-142465208	urinary_tract; bladder	carcinoma	Substitution - Missense
c.632T>C; p.M211T; 3:142562770-142562770	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.893T>G; p.L298R; 3:142562509-142562509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1488C>T; p.V496V; 3:142560316-142560316	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1865G>A; p.C622Y; 3:142558644-142558644	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1622C>T; p.T541I; 3:142559361-142559361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1297C>A; p.R433S; 3:142561295-142561295	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.7690G>A; p.E2564K; 3:142453199-142453199	skin	malignant_melanoma	Substitution - Missense
c.2858C>T; p.P953L; 3:142550250-142550250	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3090A>C; p.I1030I; 3:142549560-142549560	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4815A>T; p.P1605P; 3:142512297-142512297	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4934C>T; p.S1645F; 3:142508028-142508028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.260G>A; p.S87N; 3:142566153-142566153	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.20A>T; p.E7V; 3:142578685-142578685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4218G>A; p.A1406A; 3:142522776-142522776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3402delT; p.F1134fs*6; 3:142542713-142542713	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3402delT; p.F1134fs*6; 3:142542713-142542713	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3892G>A; p.D1298N; 3:142535133-142535133	skin	malignant_melanoma	Substitution - Missense
c.7352A>G; p.Y2451C; 3:142459109-142459109	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.5236C>A; p.L1746I; 3:142503414-142503414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5895C>T; p.S1965S; 3:142496364-142496364	skin	malignant_melanoma	Substitution - coding silent
c.3092A>G; p.N1031S; 3:142549558-142549558	pancreas	carcinoma	Substitution - Missense
c.271G>T; p.E91*; 3:142566142-142566142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2283T>C; p.S761S; 3:142555935-142555935	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5096A>C; p.E1699A; 3:142505239-142505239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3715A>C; p.I1239L; 3:142538492-142538492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4940G>A; p.R1647H; 3:142508022-142508022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4940G>A; p.R1647H; 3:142508022-142508022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6698G>T; p.S2233I; 3:142466523-142466523	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.6698G>T; p.S2233I; 3:142466523-142466523	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1367T>C; p.M456T; 3:142560437-142560437	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5316G>A; p.T1772T; 3:142499691-142499691	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.530G>A; p.R177Q; 3:142562872-142562872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5942A>T; p.E1981V; 3:142493268-142493268	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7630C>T; p.R2544C; 3:142457629-142457629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7630C>T; p.R2544C; 3:142457629-142457629	liver	carcinoma	Substitution - Missense
c.7739C>A; p.T2580N; 3:142453150-142453150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2112G>C; p.K704N; 3:142556106-142556106	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4900G>A; p.D1634N; 3:142508062-142508062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2298C>A; p.F766L; 3:142555920-142555920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6859C>A; p.P2287T; 3:142466362-142466362	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3831G>C; p.E1277D; 3:142535194-142535194	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3387C>T; p.G1129G; 3:142542728-142542728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5059G>C; p.D1687H; 3:142505276-142505276	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7599A>G; p.R2533R; 3:142457660-142457660	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3685G>T; p.E1229*; 3:142538522-142538522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6480G>C; p.L2160F; 3:142469409-142469409	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6089C>T; p.A2030V; 3:142485272-142485272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1911G>A; p.V637V; 3:142556550-142556550	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6186T>A; p.G2062G; 3:142485175-142485175	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.6352G>A; p.D2118N; 3:142469537-142469537	skin	malignant_melanoma	Substitution - Missense
c.7910A>G; p.Y2637C; 3:142449454-142449454	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.982A>G; p.M328V; 3:142562420-142562420	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7910A>G; p.Y2637C; 3:142449454-142449454	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5965A>C; p.T1989P; 3:142493245-142493245	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.7853G>A; p.G2618E; 3:142449511-142449511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421A>T; p.I141F; 3:142562981-142562981	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5656C>T; p.R1886*; 3:142497095-142497095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7853G>A; p.G2618E; 3:142449511-142449511	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5791G>C; p.A1931P; 3:142496468-142496468	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6443G>A; p.R2148Q; 3:142469446-142469446	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7792C>T; p.R2598*; 3:142449572-142449572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.856G>A; p.D286N; 3:142562546-142562546	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4551G>A; p.M1517I; 3:142513591-142513591	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5778G>C; p.Q1926H; 3:142496481-142496481	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1004T>C; p.M335T; 3:142562398-142562398	liver	carcinoma	Substitution - Missense
c.593G>A; p.S198N; 3:142562809-142562809	breast	carcinoma	Substitution - Missense
c.2727A>G; p.T909T; 3:142553305-142553305	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.293-1G>T; p.?; 3:142563110-142563110	stomach	carcinoma; adenocarcinoma	Unknown
c.3643G>T; p.V1215L; 3:142538564-142538564	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1004T>C; p.M335T; 3:142562398-142562398	liver	carcinoma	Substitution - Missense
c.5353G>T; p.D1785Y; 3:142499654-142499654	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1010T>A; p.L337H; 3:142562392-142562392	skin	malignant_melanoma	Substitution - Missense
c.3284C>T; p.S1095L; 3:142547798-142547798	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1776T>A; p.G592G; 3:142558733-142558733	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203A>C; p.K401N; 3:142561389-142561389	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1776T>A; p.G592G; 3:142558733-142558733	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3284C>G; p.S1095*; 3:142547798-142547798	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.6384G>T; p.E2128D; 3:142469505-142469505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7420G>A; p.G2474R; 3:142459041-142459041	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4957C>T; p.R1653*; 3:142508005-142508005	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1756A>G; p.I586V; 3:142558753-142558753	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.644G>A; p.R215H; 3:142562758-142562758	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.194C>T; p.S65F; 3:142566219-142566219	skin; neck	malignant_melanoma	Substitution - Missense
c.3541G>T; p.G1181C; 3:142540944-142540944	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.194C>T; p.S65F; 3:142566219-142566219	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7274G>A; p.R2425Q; 3:142459302-142459302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3232G>T; p.E1078*; 3:142547850-142547850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7274G>A; p.R2425Q; 3:142459302-142459302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.7274G>A; p.R2425Q; 3:142459302-142459302	thyroid	other; neoplasm	Substitution - Missense
c.4806G>T; p.E1602D; 3:142512306-142512306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1802C>T; p.S601F; 3:142558707-142558707	NS	malignant_melanoma	Substitution - Missense
c.3148G>C; p.E1050Q; 3:142549502-142549502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1802C>T; p.S601F; 3:142558707-142558707	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1802C>T; p.S601F; 3:142558707-142558707	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.57C>T; p.G19G; 3:142578648-142578648	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5138G>A; p.G1713D; 3:142505197-142505197	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7905G>C; p.Q2635H; 3:142449459-142449459	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1072C>T; p.P358S; 3:142562330-142562330	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.967G>A; p.E323K; 3:142562435-142562435	skin	malignant_melanoma	Substitution - Missense
c.1815T>C; p.D605D; 3:142558694-142558694	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.7255G>A; p.E2419K; 3:142459321-142459321	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5856C>T; p.L1952L; 3:142496403-142496403	skin	malignant_melanoma	Substitution - coding silent
c.722G>T; p.S241I; 3:142562680-142562680	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1815T>C; p.D605D; 3:142558694-142558694	kidney	other; neoplasm	Substitution - coding silent
c.1308G>A; p.S436S; 3:142561284-142561284	liver	carcinoma	Substitution - coding silent
c.4462G>C; p.A1488P; 3:142515436-142515436	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4462G>C; p.A1488P; 3:142515436-142515436	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3974G>A; p.S1325N; 3:142524171-142524171	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7192+2T>A; p.?; 3:142461938-142461938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.5171G>T; p.R1724M; 3:142505164-142505164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7193G>C; p.G2398A; 3:142459383-142459383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2246C>G; p.S749C; 3:142555972-142555972	breast	carcinoma	Substitution - Missense
c.5492T>G; p.I1831S; 3:142498663-142498663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1322C>T; p.S441F; 3:142561270-142561270	skin	malignant_melanoma	Substitution - Missense
c.2490C>T; p.H830H; 3:142553867-142553867	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1338A>G; p.K446K; 3:142561254-142561254	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2905G>T; p.E969*; 3:142550203-142550203	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1312C>T; p.L438L; 3:142561280-142561280	skin	malignant_melanoma	Substitution - coding silent
c.7226G>C; p.C2409S; 3:142459350-142459350	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5931A>T; p.Q1977H; 3:142493279-142493279	oesophagus	carcinoma	Substitution - Missense
c.2642A>G; p.K881R; 3:142553390-142553390	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.7611A>G; p.E2537E; 3:142457648-142457648	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3798C>T; p.A1266A; 3:142536129-142536129	skin	malignant_melanoma	Substitution - coding silent
c.1609T>C; p.L537L; 3:142559374-142559374	thyroid	carcinoma	Substitution - coding silent
c.1162G>A; p.D388N; 3:142562240-142562240	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2965C>T; p.R989C; 3:142550143-142550143	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5017C>G; p.L1673V; 3:142507945-142507945	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1504C>A; p.L502M; 3:142560300-142560300	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2267C>T; p.S756F; 3:142555951-142555951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2267C>T; p.S756F; 3:142555951-142555951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6432A>T; p.Q2144H; 3:142469457-142469457	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.323_324insT; p.R109fs*17; 3:142563078-142563079	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2267C>T; p.S756F; 3:142555951-142555951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3559G>T; p.D1187Y; 3:142540926-142540926	oesophagus	carcinoma	Substitution - Missense
c.2267C>T; p.S756F; 3:142555951-142555951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3799G>A; p.V1267I; 3:142536128-142536128	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4727T>G; p.L1576R; 3:142512385-142512385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4505T>C; p.V1502A; 3:142513637-142513637	pancreas	carcinoma	Substitution - Missense
c.1276G>A; p.G426R; 3:142561316-142561316	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4781A>T; p.H1594L; 3:142512331-142512331	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1276G>A; p.G426R; 3:142561316-142561316	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2391A>T; p.E797D; 3:142553966-142553966	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7411C>A; p.L2471M; 3:142459050-142459050	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2875G>A; p.V959M; 3:142550233-142550233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2910G>C; p.M970I; 3:142550198-142550198	skin	malignant_melanoma	Substitution - Missense
c.1041C>A; p.C347*; 3:142562361-142562361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7609G>C; p.E2537Q; 3:142457650-142457650	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.7609G>C; p.E2537Q; 3:142457650-142457650	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3037C>G; p.L1013V; 3:142549613-142549613	thyroid	carcinoma	Substitution - Missense
c.5545G>A; p.E1849K; 3:142498610-142498610	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2705C>A; p.S902Y; 3:142553327-142553327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6329C>T; p.S2110F; 3:142469560-142469560	skin	malignant_melanoma	Substitution - Missense
c.6621C>A; p.S2207S; 3:142468000-142468000	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6329C>T; p.S2110F; 3:142469560-142469560	skin	malignant_melanoma	Substitution - Missense
c.7789C>A; p.Q2597K; 3:142449575-142449575	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5657G>A; p.R1886Q; 3:142497094-142497094	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.911C>T; p.P304L; 3:142562491-142562491	skin	malignant_melanoma	Substitution - Missense
c.5657G>A; p.R1886Q; 3:142497094-142497094	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5635G>A; p.D1879N; 3:142497116-142497116	skin	malignant_melanoma	Substitution - Missense
c.2079-7delT; p.?; 3:142556146-142556146	large_intestine	carcinoma; adenocarcinoma	Unknown
c.4081T>G; p.L1361V; 3:142524064-142524064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2269C>T; p.Q757*; 3:142555949-142555949	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6650G>T; p.R2217L; 3:142467971-142467971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6308A>C; p.E2103A; 3:142470097-142470097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5121T>C; p.L1707L; 3:142505214-142505214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7761G>T; p.K2587N; 3:142453128-142453128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7346C>T; p.S2449L; 3:142459230-142459230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4666C>G; p.L1556V; 3:142512446-142512446	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6063T>C; p.I2021I; 3:142493147-142493147	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3243G>A; p.L1081L; 3:142547839-142547839	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.4086G>A; p.G1362G; 3:142524059-142524059	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7597C>T; p.R2533*; 3:142457662-142457662	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.7597C>T; p.R2533*; 3:142457662-142457662	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7312G>A; p.E2438K; 3:142459264-142459264	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.7312G>A; p.E2438K; 3:142459264-142459264	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.3806A>G; p.Q1269R; 3:142536121-142536121	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2946C>T; p.F982F; 3:142550162-142550162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7220G>A; p.R2407H; 3:142459356-142459356	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.5440delA; p.R1814fs*10; 3:142498715-142498715	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.315G>T; p.T105T; 3:142563087-142563087	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4000C>G; p.Q1334E; 3:142524145-142524145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2096A>T; p.D699V; 3:142556122-142556122	breast	carcinoma	Substitution - Missense
c.5899-1G>C; p.?; 3:142493312-142493312	lung	carcinoma; adenocarcinoma	Unknown
c.633G>A; p.M211I; 3:142562769-142562769	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6459C>T; p.H2153H; 3:142469430-142469430	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.6459C>T; p.H2153H; 3:142469430-142469430	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2746G>C; p.A916P; 3:142553286-142553286	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2002C>T; p.R668W; 3:142556459-142556459	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4470G>T; p.W1490C; 3:142515428-142515428	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5440_5441insA; p.R1814fs*8; 3:142498714-142498715	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.7007G>T; p.C2336F; 3:142465131-142465131	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5551A>G; p.I1851V; 3:142498604-142498604	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4213C>A; p.L1405I; 3:142522781-142522781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5551A>G; p.I1851V; 3:142498604-142498604	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.80A>G; p.N27S; 3:142568134-142568134	liver	carcinoma	Substitution - Missense
c.7134A>G; p.E2378E; 3:142461998-142461998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4089G>A; p.A1363A; 3:142524056-142524056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1442G>A; p.G481D; 3:142560362-142560362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7310A>T; p.H2437L; 3:142459266-142459266	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2752A>G; p.K918E; 3:142553280-142553280	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2947G>A; p.D983N; 3:142550161-142550161	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5866T>C; p.Y1956H; 3:142496393-142496393	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2947G>A; p.D983N; 3:142550161-142550161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2977-1G>C; p.?; 3:142549674-142549674	thyroid	carcinoma	Unknown
c.2947G>A; p.D983N; 3:142550161-142550161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7133A>G; p.E2378G; 3:142461999-142461999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7618A>G; p.M2540V; 3:142457641-142457641	breast	carcinoma	Substitution - Missense
c.297C>T; p.F99F; 3:142563105-142563105	skin	malignant_melanoma	Substitution - coding silent
c.1403A>T; p.Q468L; 3:142560401-142560401	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4553T>G; p.M1518R; 3:142513589-142513589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3769G>C; p.D1257H; 3:142536158-142536158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5868C>T; p.Y1956Y; 3:142496391-142496391	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5868C>T; p.Y1956Y; 3:142496391-142496391	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5868C>T; p.Y1956Y; 3:142496391-142496391	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5868C>T; p.Y1956Y; 3:142496391-142496391	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5868C>T; p.Y1956Y; 3:142496391-142496391	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2137C>G; p.Q713E; 3:142556081-142556081	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3819G>T; p.K1273N; 3:142536108-142536108	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6192C>T; p.L2064L; 3:142485169-142485169	skin	malignant_melanoma	Substitution - coding silent
c.6192C>T; p.L2064L; 3:142485169-142485169	skin	malignant_melanoma	Substitution - coding silent
c.6192C>T; p.L2064L; 3:142485169-142485169	skin	malignant_melanoma	Substitution - coding silent
c.6192C>T; p.L2064L; 3:142485169-142485169	skin	malignant_melanoma	Substitution - coding silent
c.6192C>T; p.L2064L; 3:142485169-142485169	skin	malignant_melanoma	Substitution - coding silent
c.6192C>T; p.L2064L; 3:142485169-142485169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7777C>A; p.L2593I; 3:142449587-142449587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.238C>T; p.P80S; 3:142566175-142566175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7704A>G; p.P2568P; 3:142453185-142453185	skin	malignant_melanoma	Substitution - coding silent
c.6494C>T; p.A2165V; 3:142469395-142469395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3581+7G>A; p.?; 3:142540897-142540897	kidney	other; neoplasm	Unknown
c.5953C>T; p.P1985S; 3:142493257-142493257	skin	malignant_melanoma	Substitution - Missense
c.5148G>C; p.R1716S; 3:142505187-142505187	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.7292G>A; p.R2431K; 3:142459284-142459284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.111G>A; p.L37L; 3:142568103-142568103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3225G>A; p.L1075L; 3:142547857-142547857	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2298C>T; p.F766F; 3:142555920-142555920	skin	malignant_melanoma	Substitution - coding silent
c.3217C>T; p.Q1073*; 3:142547865-142547865	thyroid	carcinoma	Substitution - Nonsense
c.4185A>G; p.G1395G; 3:142522809-142522809	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5370T>A; p.Y1790*; 3:142499637-142499637	skin	malignant_melanoma	Substitution - Nonsense
c.2864A>G; p.Q955R; 3:142550244-142550244	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.594T>C; p.S198S; 3:142562808-142562808	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3409C>T; p.Q1137*; 3:142542706-142542706	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3181G>A; p.E1061K; 3:142547901-142547901	breast	carcinoma	Substitution - Missense
c.4232G>T; p.S1411I; 3:142522762-142522762	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7798C>A; p.Q2600K; 3:142449566-142449566	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7735G>A; p.E2579K; 3:142453154-142453154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.200T>C; p.M67T; 3:142566213-142566213	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2944T>G; p.F982V; 3:142550164-142550164	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3777A>C; p.P1259P; 3:142536150-142536150	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.7854A>G; p.G2618G; 3:142449510-142449510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6781C>T; p.P2261S; 3:142466440-142466440	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2696A>C; p.K899T; 3:142553336-142553336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6191T>A; p.L2064H; 3:142485170-142485170	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2012G>C; p.C671S; 3:142556449-142556449	oesophagus	carcinoma	Substitution - Missense
c.2922G>A; p.T974T; 3:142550186-142550186	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2268T>A; p.S756S; 3:142555950-142555950	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4507C>T; p.R1503*; 3:142513635-142513635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3996C>A; p.I1332I; 3:142524149-142524149	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6005C>T; p.A2002V; 3:142493205-142493205	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4582C>A; p.L1528I; 3:142513560-142513560	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1364A>G; p.D455G; 3:142560440-142560440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1977C>T; p.A659A; 3:142556484-142556484	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4692A>C; p.I1564I; 3:142512420-142512420	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4360C>T; p.L1454L; 3:142519691-142519691	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3898C>T; p.R1300C; 3:142535127-142535127	skin	malignant_melanoma	Substitution - Missense
c.3790_3796delATAAAAG; p.I1264fs*24; 3:142536131-142536137	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3790_3796delATAAAAG; p.I1264fs*24; 3:142536131-142536137	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2919T>A; p.N973K; 3:142550189-142550189	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4111T>G; p.F1371V; 3:142524034-142524034	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2110A>T; p.K704*; 3:142556108-142556108	breast	carcinoma	Substitution - Nonsense
c.5377G>A; p.A1793T; 3:142499630-142499630	liver	carcinoma	Substitution - Missense
c.4678G>A; p.D1560N; 3:142512434-142512434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6916C>T; p.L2306F; 3:142465222-142465222	skin	malignant_melanoma	Substitution - Missense
c.6387T>A; p.H2129Q; 3:142469502-142469502	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3736C>T; p.Q1246*; 3:142536191-142536191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.347G>C; p.C116S; 3:142563055-142563055	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.286T>A; p.C96S; 3:142566127-142566127	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.5789T>C; p.V1930A; 3:142496470-142496470	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1221C>T; p.I407I; 3:142561371-142561371	skin	malignant_melanoma	Substitution - coding silent
c.1843G>A; p.A615T; 3:142558666-142558666	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6901G>A; p.E2301K; 3:142465237-142465237	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4153-11_4153-10delTT; p.?; 3:142522851-142522852	liver	carcinoma	Unknown
c.1326A>G; p.K442K; 3:142561266-142561266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4629_4631delAGA; p.E1543delE; 3:142513511-142513513	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.4329G>C; p.W1443C; 3:142519722-142519722	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733-4G>A; p.?; 3:142558780-142558780	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Unknown
c.6016G>T; p.V2006L; 3:142493194-142493194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.R336W; 3:142562396-142562396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.R336W; 3:142562396-142562396	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5197-1G>T; p.?; 3:142503454-142503454	lung	carcinoma; adenocarcinoma	Unknown
c.4138G>T; p.D1380Y; 3:142524007-142524007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4138G>T; p.D1380Y; 3:142524007-142524007	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7066C>T; p.R2356C; 3:142462066-142462066	skin	malignant_melanoma	Substitution - Missense
c.7545G>T; p.L2515L; 3:142457714-142457714	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3001G>T; p.D1001Y; 3:142549649-142549649	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.387A>G; p.S129S; 3:142563015-142563015	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.387A>G; p.S129S; 3:142563015-142563015	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6552+7G>T; p.?; 3:142469330-142469330	liver	carcinoma	Unknown
c.6552+7G>T; p.?; 3:142469330-142469330	liver	carcinoma	Unknown
c.1583C>T; p.P528L; 3:142559400-142559400	skin	malignant_melanoma	Substitution - Missense
c.163C>A; p.L55I; 3:142566250-142566250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.387A>G; p.S129S; 3:142563015-142563015	stomach	adenocarcinoma	Substitution - coding silent
c.3068T>C; p.V1023A; 3:142549582-142549582	skin	malignant_melanoma	Substitution - Missense
c.2051C>A; p.S684Y; 3:142556410-142556410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6400G>T; p.A2134S; 3:142469489-142469489	breast	carcinoma	Substitution - Missense
c.5410C>T; p.L1804L; 3:142498745-142498745	skin	malignant_melanoma	Substitution - coding silent
c.946G>A; p.V316I; 3:142562456-142562456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6279_6280delAT; p.W2094fs*2; 3:142470125-142470126	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.6279_6280delAT; p.W2094fs*2; 3:142470125-142470126	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4782C>T; p.H1594H; 3:142512330-142512330	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.226A>C; p.M76L; 3:142566187-142566187	breast	carcinoma	Substitution - Missense
c.1544G>A; p.R515H; 3:142559439-142559439	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7088G>A; p.R2363Q; 3:142462044-142462044	pancreas	carcinoma	Substitution - Missense
c.5500C>T; p.L1834F; 3:142498655-142498655	skin	malignant_melanoma	Substitution - Missense
c.3073C>T; p.R1025C; 3:142549577-142549577	skin; extremity	malignant_melanoma	Substitution - Missense
c.1544G>A; p.R515H; 3:142559439-142559439	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2820C>T; p.S940S; 3:142550288-142550288	skin	malignant_melanoma	Substitution - coding silent
c.7088G>A; p.R2363Q; 3:142462044-142462044	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1544G>A; p.R515H; 3:142559439-142559439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3073C>T; p.R1025C; 3:142549577-142549577	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5351G>A; p.W1784*; 3:142499656-142499656	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3548G>A; p.R1183Q; 3:142540937-142540937	breast	carcinoma	Substitution - Missense
c.5032-1G>A; p.?; 3:142505304-142505304	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.6697A>G; p.S2233G; 3:142466524-142466524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3417G>A; p.L1139L; 3:142542698-142542698	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7168C>T; p.L2390L; 3:142461964-142461964	skin	malignant_melanoma	Substitution - coding silent
c.1516C>T; p.H506Y; 3:142560288-142560288	skin; ear	malignant_melanoma	Substitution - Missense
c.4809A>G; p.K1603K; 3:142512303-142512303	breast	carcinoma	Substitution - coding silent
c.1903C>T; p.R635*; 3:142556558-142556558	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7904A>C; p.Q2635P; 3:142449460-142449460	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2408A>C; p.K803T; 3:142553949-142553949	skin; leg	malignant_melanoma	Substitution - Missense
c.6389C>G; p.T2130R; 3:142469500-142469500	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1083T>C; p.Y361Y; 3:142562319-142562319	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1645A>G; p.S549G; 3:142559338-142559338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2259T>C; p.C753C; 3:142555959-142555959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1623A>G; p.T541T; 3:142559360-142559360	liver	carcinoma	Substitution - coding silent
c.7230G>A; p.M2410I; 3:142459346-142459346	liver	carcinoma	Substitution - Missense
c.7115A>C; p.D2372A; 3:142462017-142462017	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3061_3064delTTAA; p.L1021fs*8; 3:142549586-142549589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3507T>C; p.S1169S; 3:142540978-142540978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2994A>G; p.L998L; 3:142549656-142549656	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3973A>T; p.S1325C; 3:142524172-142524172	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.7206A>T; p.T2402T; 3:142459370-142459370	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7504-1G>A; p.?; 3:142457756-142457756	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.7334C>T; p.P2445L; 3:142459242-142459242	skin	malignant_melanoma	Substitution - Missense
c.2070G>A; p.K690K; 3:142556391-142556391	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4383-2A>G; p.?; 3:142515517-142515517	breast	carcinoma	Unknown
c.3044G>A; p.R1015Q; 3:142549606-142549606	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4748C>T; p.S1583F; 3:142512364-142512364	skin	malignant_melanoma	Substitution - Missense
c.3044G>A; p.R1015Q; 3:142549606-142549606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5378C>A; p.A1793E; 3:142499629-142499629	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3044G>A; p.R1015Q; 3:142549606-142549606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3044G>A; p.R1015Q; 3:142549606-142549606	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2644G>A; p.G882R; 3:142553388-142553388	skin	malignant_melanoma	Substitution - Missense
c.3541G>A; p.G1181S; 3:142540944-142540944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1674C>G; p.D558E; 3:142559309-142559309	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4245T>A; p.D1415E; 3:142522749-142522749	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4797G>C; p.L1599L; 3:142512315-142512315	breast	carcinoma	Substitution - coding silent
c.1035T>A; p.A345A; 3:142562367-142562367	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5208T>C; p.Y1736Y; 3:142503442-142503442	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4995G>A; p.K1665K; 3:142507967-142507967	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4201A>G; p.T1401A; 3:142522793-142522793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7725G>A; p.A2575A; 3:142453164-142453164	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5536C>T; p.R1846*; 3:142498619-142498619	skin	malignant_melanoma	Substitution - Nonsense
c.3358-2A>T; p.?; 3:142542759-142542759	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3181G>T; p.E1061*; 3:142547901-142547901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2777_2778insT; p.S927fs*4; 3:142553254-142553255	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.6224C>T; p.S2075F; 3:142470181-142470181	skin	malignant_melanoma	Substitution - Missense
c.6864A>G; p.G2288G; 3:142466357-142466357	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7435G>A; p.E2479K; 3:142459026-142459026	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6277C>G; p.L2093V; 3:142470128-142470128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7724C>T; p.A2575V; 3:142453165-142453165	breast	carcinoma	Substitution - Missense
c.7376G>A; p.R2459H; 3:142459085-142459085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.7219C>T; p.R2407C; 3:142459357-142459357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7540C>T; p.R2514C; 3:142457719-142457719	skin	malignant_melanoma	Substitution - Missense
c.7219C>T; p.R2407C; 3:142459357-142459357	breast	carcinoma	Substitution - Missense
c.6661A>G; p.K2221E; 3:142467960-142467960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7376G>A; p.R2459H; 3:142459085-142459085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	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]