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	545
Symbol	ATR
Synonymous	FCTCS\|FRP1\|MEC1\|SCKL\|SCKL1
Full name	ATR serine/threonine kinase
Gene description	FRAP-related protein-1\|MEC1, mitosis entry checkpoint 1, homolog\|ataxia telangiectasia and Rad3-related protein\|serine/threonine-protein kinase ATR
Cytoband	3q23
Gene type	protein-coding
Synonymous	MIM:601215; HGNC:HGNC:882; Ensembl:ENSG00000175054; HPRD:08369; Vega:OTTHUMG00000159234

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
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

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation