Entrez Gene

Basic Information
Gene ID	4627
Name	MYH9
Synonymous	myosin, heavy chain 9, non-muscle;MYH9;myosin, heavy chain 9, non-muscle
Definition	cellular myosin heavy chain, type A\|myosin-9\|non-muscle myosin heavy chain A\|non-muscle myosin heavy chain IIa\|non-muscle myosin heavy polypeptide 9\|nonmuscle myosin heavy chain II-A
Position	22q13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2608G>T; p.E870*; 22:36301557-36301557	breast	carcinoma	Substitution - Nonsense
c.2326G>T; p.D776Y; 22:36304059-36304059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1615_1625del11; p.D539fs*25; 22:36312152-36312162	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1659C>T; p.H553H; 22:36312118-36312118	pancreas	carcinoma	Substitution - coding silent
c.2629C>T; p.Q877*; 22:36301536-36301536	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4856T>G; p.L1619R; 22:36288328-36288328	prostate	carcinoma	Substitution - Missense
c.4019C>T; p.S1340F; 22:36293405-36293405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1683G>T; p.Q561H; 22:36312094-36312094	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1826C>T; p.S609L; 22:36309299-36309299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1192C>T; p.R398W; 22:36318242-36318242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.333+1G>A; p.?; 22:36348903-36348903	pancreas	carcinoma; acinar_carcinoma	Unknown
c.1287G>A; p.L429L; 22:36316610-36316610	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2460G>A; p.L820L; 22:36302607-36302607	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420G>C; p.E474Q; 22:36314279-36314279	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1287G>A; p.L429L; 22:36316610-36316610	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3210G>T; p.Q1070H; 22:36296905-36296905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4818G>A; p.S1606S; 22:36288366-36288366	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1779T>G; p.N593K; 22:36309346-36309346	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3881G>A; p.S1294N; 22:36293820-36293820	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.I389I; 22:36318267-36318267	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5109G>C; p.R1703R; 22:36285906-36285906	breast	carcinoma	Substitution - coding silent
c.3214G>A; p.A1072T; 22:36296901-36296901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1211C>T; p.A404V; 22:36318223-36318223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.229C>G; p.P77A; 22:36349008-36349008	thyroid	other; neoplasm	Substitution - Missense
c.1211C>T; p.A404V; 22:36318223-36318223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4324A>C; p.K1442Q; 22:36292006-36292006	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3272+2T>G; p.?; 22:36296841-36296841	breast	carcinoma	Unknown
c.2604C>G; p.L868L; 22:36301561-36301561	breast	carcinoma	Substitution - coding silent
c.4396C>T; p.R1466W; 22:36289246-36289246	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.718C>T; p.R240C; 22:36321809-36321809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3343G>A; p.E1115K; 22:36295647-36295647	skin	malignant_melanoma	Substitution - Missense
c.4800C>T; p.D1600D; 22:36288384-36288384	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407C>G; p.I469M; 22:36314292-36314292	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4420_4422delAAG; p.K1474delK; 22:36289220-36289222	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.687T>C; p.N229N; 22:36322447-36322447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3624G>A; p.T1208T; 22:36294938-36294938	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1949A>G; p.Y650C; 22:36306502-36306502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.A195V; 22:36326596-36326596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3060delG; p.K1020fs*9; 22:36298959-36298959	breast	carcinoma	Deletion - Frameshift
c.4727G>A; p.R1576Q; 22:36288770-36288770	oesophagus	carcinoma	Substitution - Missense
c.1458C>A; p.I486I; 22:36314241-36314241	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3540C>A; p.A1180A; 22:36295022-36295022	kidney	other; neoplasm	Substitution - coding silent
c.1150G>A; p.D384N; 22:36318284-36318284	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5735G>A; p.R1912H; 22:36284123-36284123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5489G>A; p.R1830H; 22:36284506-36284506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2531A>G; p.E844G; 22:36301634-36301634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5735G>A; p.R1912H; 22:36284123-36284123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5281C>T; p.Q1761*; 22:36285323-36285323	skin	malignant_melanoma	Substitution - Nonsense
c.2347A>G; p.I783V; 22:36304038-36304038	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5734C>T; p.R1912C; 22:36284124-36284124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.25T>C; p.Y9H; 22:36349212-36349212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5021A>C; p.K1674T; 22:36286758-36286758	pleura	pulmonary_blastoma	Substitution - Missense
c.25T>C; p.Y9H; 22:36349212-36349212	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3693C>T; p.N1231N; 22:36294236-36294236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.839T>A; p.L280H; 22:36320827-36320827	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4041G>A; p.E1347E; 22:36293383-36293383	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5033T>C; p.M1678T; 22:36286746-36286746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4982G>A; p.R1661H; 22:36286797-36286797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5860G>A; p.A1954T; 22:36282691-36282691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3914C>T; p.A1305V; 22:36293787-36293787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3858C>A; p.T1286T; 22:36293843-36293843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3320G>A; p.R1107Q; 22:36295670-36295670	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4932+8T>G; p.?; 22:36288244-36288244	pancreas	carcinoid-endocrine_tumour	Unknown
c.3561C>T; p.I1187I; 22:36295001-36295001	skin	malignant_melanoma	Substitution - coding silent
c.3783C>G; p.F1261L; 22:36294146-36294146	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130G>T; p.A44S; 22:36349107-36349107	kidney	other; neoplasm	Substitution - Missense
c.3872A>G; p.Q1291R; 22:36293829-36293829	liver	carcinoma	Substitution - Missense
c.1746C>T; p.D582D; 22:36309379-36309379	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1389G>A; p.S463S; 22:36314310-36314310	liver	carcinoma	Substitution - coding silent
c.5515C>T; p.R1839W; 22:36284480-36284480	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4964A>T; p.D1655V; 22:36286815-36286815	kidney	other; neoplasm	Substitution - Missense
c.1389G>A; p.S463S; 22:36314310-36314310	liver	carcinoma	Substitution - coding silent
c.2982G>T; p.K994N; 22:36299037-36299037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5515C>T; p.R1839W; 22:36284480-36284480	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1129C>T; p.L377F; 22:36318305-36318305	skin	malignant_melanoma	Substitution - Missense
c.3840G>T; p.V1280V; 22:36293861-36293861	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.3840G>T; p.V1280V; 22:36293861-36293861	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2865G>A; p.E955E; 22:36300238-36300238	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1492G>A; p.E498K; 22:36314207-36314207	breast	carcinoma	Substitution - Missense
c.934G>T; p.G312W; 22:36320298-36320298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1477C>T; p.Q493*; 22:36314222-36314222	oesophagus	carcinoma	Substitution - Nonsense
c.3983_3984insGAG; p.L1327_S1328insR; 22:36293440-36293441	lung	carcinoma; small_cell_carcinoma	Insertion - In frame
c.1939G>T; p.G647W; 22:36306512-36306512	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1565delC; p.P522fs*25; 22:36312212-36312212	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1565delC; p.P522fs*25; 22:36312212-36312212	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4801G>T; p.E1601*; 22:36288383-36288383	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2043_2060del18; p.K682_L687delKLDPHL; 22:36306029-36306046	breast	carcinoma	Deletion - In frame
c.333C>T; p.Y111Y; 22:36348904-36348904	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4670G>A; p.R1557Q; 22:36288827-36288827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5845G>T; p.G1949C; 22:36282706-36282706	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4939A>C; p.M1647L; 22:36286840-36286840	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1173_1174CC>TT; p.P392S; 22:36318260-36318261	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3817G>A; p.D1273N; 22:36294112-36294112	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5719G>A; p.A1907T; 22:36284139-36284139	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>T; p.I414I; 22:36316655-36316655	skin	malignant_melanoma	Substitution - coding silent
c.4617G>A; p.T1539T; 22:36288880-36288880	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2576A>T; p.E859V; 22:36301589-36301589	breast	carcinoma	Substitution - Missense
c.2248G>C; p.D750H; 22:36304137-36304137	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5632C>T; p.Q1878*; 22:36284226-36284226	breast	carcinoma	Substitution - Nonsense
c.4165A>C; p.K1389Q; 22:36292165-36292165	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5329G>A; p.E1777K; 22:36285275-36285275	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393H; 22:36318256-36318256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393H; 22:36318256-36318256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2938C>T; p.Q980*; 22:36300165-36300165	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2408A>G; p.Q803R; 22:36302659-36302659	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2408A>G; p.Q803R; 22:36302659-36302659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4200_4202delGCA; p.H1401del; 22:36292128-36292130	breast	carcinoma; ductal_carcinoma	Deletion - In frame
c.1227+2T>C; p.?; 22:36318205-36318205	breast	carcinoma	Unknown
c.1148C>T; p.T383I; 22:36318286-36318286	skin	malignant_melanoma	Substitution - Missense
c.1201G>A; p.V401I; 22:36318233-36318233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5174G>A; p.R1725Q; 22:36285758-36285758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5305G>T; p.E1769*; 22:36285299-36285299	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4852G>T; p.D1618Y; 22:36288332-36288332	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3960G>T; p.E1320D; 22:36293464-36293464	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.274C>G; p.L92V; 22:36348963-36348963	breast	carcinoma	Substitution - Missense
c.2769G>A; p.R923R; 22:36300920-36300920	skin	malignant_melanoma	Substitution - coding silent
c.3198G>T; p.E1066D; 22:36296917-36296917	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3097G>A; p.E1033K; 22:36298922-36298922	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2750G>A; p.C917Y; 22:36300939-36300939	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2785_2787delGAG; p.E929delE; 22:36300902-36300904	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2230-1G>C; p.?; 22:36304156-36304156	lung	carcinoma; adenocarcinoma	Unknown
c.5573C>T; p.A1858V; 22:36284422-36284422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2058T>C; p.H686H; 22:36306031-36306031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2785_2787delGAG; p.E929delE; 22:36300902-36300904	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.2305G>A; p.A769T; 22:36304080-36304080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2405G>T; p.R802L; 22:36302662-36302662	breast	carcinoma	Substitution - Missense
c.19G>A; p.D7N; 22:36349218-36349218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1314C>A; p.D438E; 22:36316583-36316583	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.435G>C; p.E145D; 22:36341425-36341425	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4018T>A; p.S1340T; 22:36293406-36293406	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3054C>T; p.L1018L; 22:36298965-36298965	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1384A>T; p.N462Y; 22:36314315-36314315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.736A>C; p.N246H; 22:36321791-36321791	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4250G>A; p.R1417Q; 22:36292080-36292080	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280G>A; p.E94K; 22:36348957-36348957	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5188C>T; p.R1730C; 22:36285744-36285744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5188C>T; p.R1730C; 22:36285744-36285744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5559C>T; p.D1853D; 22:36284436-36284436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5188C>T; p.R1730C; 22:36285744-36285744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4218C>T; p.A1406A; 22:36292112-36292112	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3958_3960delGAG; p.E1320delE; 22:36293464-36293466	breast	carcinoma	Deletion - In frame
c.2994A>G; p.E998E; 22:36299025-36299025	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100C>T; p.G700G; 22:36305989-36305989	skin	malignant_melanoma	Substitution - coding silent
c.4526T>G; p.L1509R; 22:36289116-36289116	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4128T>G; p.S1376R; 22:36292202-36292202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.869-1G>A; p.?; 22:36320364-36320364	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3597G>T; p.E1199D; 22:36294965-36294965	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4437G>T; p.L1479L; 22:36289205-36289205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2856G>A; p.L952L; 22:36300247-36300247	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2493C>T; p.F831F; 22:36302574-36302574	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3215C>T; p.A1072V; 22:36296900-36296900	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1462G>C; p.E488Q; 22:36314237-36314237	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.870C>T; p.T290T; 22:36320362-36320362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.870C>T; p.T290T; 22:36320362-36320362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2913G>A; p.A971A; 22:36300190-36300190	prostate	adenoma	Substitution - coding silent
c.3091G>T; p.D1031Y; 22:36298928-36298928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2378A>G; p.Y793C; 22:36304007-36304007	liver	carcinoma	Substitution - Missense
c.4447C>T; p.R1483W; 22:36289195-36289195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4535C>T; p.S1512F; 22:36289107-36289107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4903G>A; p.E1635K; 22:36288281-36288281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4447C>T; p.R1483W; 22:36289195-36289195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2214G>A; p.Q738Q; 22:36305048-36305048	bone; femur	chondrosarcoma	Substitution - coding silent
c.5716A>C; p.T1906P; 22:36284142-36284142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2697T>G; p.A899A; 22:36300992-36300992	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2788_2789insGAG; p.R930_C931insG; 22:36300900-36300901	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2697T>G; p.A899A; 22:36300992-36300992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697T>G; p.A899A; 22:36300992-36300992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4306G>A; p.A1436T; 22:36292024-36292024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2697T>G; p.A899A; 22:36300992-36300992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4306G>A; p.A1436T; 22:36292024-36292024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2500-47_2631+81del260; p.?; 22:36301453-36301712	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.5195C>T; p.A1732V; 22:36285737-36285737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5305G>A; p.E1769K; 22:36285299-36285299	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.5075C>T; p.A1692V; 22:36285940-36285940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4439C>T; p.S1480L; 22:36289203-36289203	liver	carcinoma	Substitution - Missense
c.3796C>A; p.R1266S; 22:36294133-36294133	skin	malignant_melanoma	Substitution - Missense
c.4020C>T; p.S1340S; 22:36293404-36293404	skin	malignant_melanoma	Substitution - coding silent
c.1615G>A; p.D539N; 22:36312162-36312162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5409C>T; p.S1803S; 22:36285195-36285195	skin	malignant_melanoma	Substitution - coding silent
c.4020C>T; p.S1340S; 22:36293404-36293404	skin	malignant_melanoma	Substitution - coding silent
c.3978C>G; p.S1326R; 22:36293446-36293446	pancreas	carcinoma	Substitution - Missense
c.1916G>A; p.R639Q; 22:36306535-36306535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.51C>T; p.I17I; 22:36349186-36349186	liver	carcinoma	Substitution - coding silent
c.1916G>A; p.R639Q; 22:36306535-36306535	pancreas	carcinoma	Substitution - Missense
c.51C>T; p.I17I; 22:36349186-36349186	liver	carcinoma	Substitution - coding silent
c.3879C>T; p.D1293D; 22:36293822-36293822	breast	carcinoma	Substitution - coding silent
c.2577G>T; p.E859D; 22:36301588-36301588	breast	carcinoma	Substitution - Missense
c.2215G>T; p.A739S; 22:36305047-36305047	bone; femur	chondrosarcoma	Substitution - Missense
c.3339C>A; p.I1113I; 22:36295651-36295651	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2743G>A; p.E915K; 22:36300946-36300946	urinary_tract; bladder	carcinoma	Substitution - Missense
c.858G>C; p.E286D; 22:36320808-36320808	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5833G>T; p.E1945*; 22:36282718-36282718	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.494G>A; p.R165Q; 22:36327485-36327485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1455C>T; p.F485F; 22:36314244-36314244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1660C>T; p.P554S; 22:36312117-36312117	skin	malignant_melanoma	Substitution - Missense
c.2736A>C; p.E912D; 22:36300953-36300953	breast	carcinoma	Substitution - Missense
c.638A>C; p.Q213P; 22:36322496-36322496	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.379C>T; p.L127L; 22:36341481-36341481	breast	carcinoma	Substitution - coding silent
c.2721C>T; p.T907T; 22:36300968-36300968	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1991C>T; p.T664M; 22:36306460-36306460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5798G>C; p.R1933P; 22:36282753-36282753	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3744G>A; p.K1248K; 22:36294185-36294185	breast	carcinoma	Substitution - coding silent
c.445C>G; p.H149D; 22:36341415-36341415	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4307C>T; p.A1436V; 22:36292023-36292023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4592A>T; p.E1531V; 22:36288905-36288905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.Q550*; 22:36312129-36312129	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3349C>T; p.Q1117*; 22:36295641-36295641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.585G>A; p.A195A; 22:36326595-36326595	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5788G>A; p.V1930M; 22:36282763-36282763	pancreas	carcinoma	Substitution - Missense
c.2787G>T; p.E929D; 22:36300902-36300902	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3586C>T; p.Q1196*; 22:36294976-36294976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2283C>T; p.V761V; 22:36304102-36304102	skin	malignant_melanoma	Substitution - coding silent
c.3086T>C; p.I1029T; 22:36298933-36298933	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5614C>T; p.L1872L; 22:36284244-36284244	skin	malignant_melanoma	Substitution - coding silent
c.5340G>A; p.R1780R; 22:36285264-36285264	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2774A>T; p.E925V; 22:36300915-36300915	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2893G>C; p.E965Q; 22:36300210-36300210	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2821_2822insAGA; p.K940_M941insK; 22:36300867-36300868	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.2774A>T; p.E925V; 22:36300915-36300915	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2774A>T; p.E925V; 22:36300915-36300915	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3777C>A; p.V1259V; 22:36294152-36294152	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3619C>T; p.Q1207*; 22:36294943-36294943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1573C>G; p.L525V; 22:36312204-36312204	urinary_tract; bladder	carcinoma	Substitution - Missense
c.811G>T; p.E271*; 22:36320855-36320855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4220C>T; p.A1407V; 22:36292110-36292110	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3141G>A; p.E1047E; 22:36296974-36296974	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.518+1G>A; p.?; 22:36327460-36327460	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.815G>A; p.R272Q; 22:36320851-36320851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4112A>G; p.K1371R; 22:36292218-36292218	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1877G>A; p.G626D; 22:36306574-36306574	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2496C>T; p.T832T; 22:36302571-36302571	skin	malignant_melanoma	Substitution - coding silent
c.3665delT; p.L1222fs*12; 22:36294264-36294264	NS	malignant_melanoma	Deletion - Frameshift
c.4591G>T; p.E1531*; 22:36288906-36288906	breast	carcinoma	Substitution - Nonsense
c.5302C>T; p.L1768L; 22:36285302-36285302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3799G>A; p.V1267M; 22:36294130-36294130	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3799G>A; p.V1267M; 22:36294130-36294130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3607G>A; p.E1203K; 22:36294955-36294955	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103A>G; p.N368S; 22:36319545-36319545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3389C>T; p.A1130V; 22:36295601-36295601	thyroid	other; neoplasm	Substitution - Missense
c.5542C>T; p.L1848L; 22:36284453-36284453	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5106G>A; p.E1702E; 22:36285909-36285909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3894G>A; p.K1298K; 22:36293807-36293807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4009G>A; p.E1337K; 22:36293415-36293415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3007G>A; p.E1003K; 22:36299012-36299012	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5063A>G; p.E1688G; 22:36285952-36285952	thyroid	other; neoplasm	Substitution - Missense
c.4564G>A; p.E1522K; 22:36288933-36288933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2358C>T; p.F786F; 22:36304027-36304027	skin	malignant_melanoma	Substitution - coding silent
c.5124C>T; p.D1708D; 22:36285891-36285891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.698C>T; p.S233F; 22:36322436-36322436	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4597C>T; p.Q1533*; 22:36288900-36288900	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.698C>T; p.S233F; 22:36322436-36322436	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4261G>C; p.E1421Q; 22:36292069-36292069	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5306A>G; p.E1769G; 22:36285298-36285298	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4200_4202delGCA; p.H1401_E1402>E; 22:36292128-36292130	breast	carcinoma; ductal_carcinoma	Complex - deletion inframe
c.176T>C; p.V59A; 22:36349061-36349061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781A>T; p.K261*; 22:36320885-36320885	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3213C>T; p.I1071I; 22:36296902-36296902	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4261G>C; p.E1421Q; 22:36292069-36292069	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3201C>T; p.L1067L; 22:36296914-36296914	skin	malignant_melanoma	Substitution - coding silent
c.1522C>A; p.L508M; 22:36314177-36314177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3667G>T; p.E1223*; 22:36294262-36294262	skin	malignant_melanoma	Substitution - Nonsense
c.5274+2T>C; p.?; 22:36285656-36285656	stomach	carcinoma; adenocarcinoma	Unknown
c.4671G>A; p.R1557R; 22:36288826-36288826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.165C>T; p.I55I; 22:36349072-36349072	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.28C>G; p.L10V; 22:36349209-36349209	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2577_2578insCTC; p.E859_K860insL; 22:36301587-36301588	breast	carcinoma	Insertion - In frame
c.2441G>A; p.R814Q; 22:36302626-36302626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3859G>A; p.G1287R; 22:36293842-36293842	skin	malignant_melanoma	Substitution - Missense
c.1585G>T; p.D529Y; 22:36312192-36312192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2836C>A; p.Q946K; 22:36300853-36300853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4415G>C; p.R1472P; 22:36289227-36289227	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2968C>T; p.L990L; 22:36300135-36300135	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1578C>T; p.A526A; 22:36312199-36312199	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.50_52delTCA; p.I17delI; 22:36349185-36349187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1913C>T; p.T638M; 22:36306538-36306538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4644G>A; p.L1548L; 22:36288853-36288853	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1369G>A; p.E457K; 22:36316528-36316528	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2874C>T; p.A958A; 22:36300229-36300229	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1369G>A; p.E457K; 22:36316528-36316528	ovary	other; neoplasm	Substitution - Missense
c.4039G>A; p.E1347K; 22:36293385-36293385	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1369G>A; p.E457K; 22:36316528-36316528	ovary	other; neoplasm	Substitution - Missense
c.3341C>G; p.S1114C; 22:36295649-36295649	breast	carcinoma	Substitution - Missense
c.3026C>T; p.T1009I; 22:36298993-36298993	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4954C>T; p.R1652C; 22:36286825-36286825	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3249G>A; p.E1083E; 22:36296866-36296866	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5293G>A; p.D1765N; 22:36285311-36285311	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1747G>A; p.E583K; 22:36309378-36309378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1747G>A; p.E583K; 22:36309378-36309378	prostate	carcinoma	Substitution - Missense
c.4982G>T; p.R1661L; 22:36286797-36286797	liver	carcinoma	Substitution - Missense
c.2440C>T; p.R814W; 22:36302627-36302627	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1397A>T; p.Q466L; 22:36314302-36314302	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4814G>T; p.R1605L; 22:36288370-36288370	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3745_3768del24; p.K1249_E1256delKVEAQLQE; 22:36294161-36294184	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2062G>A; p.V688M; 22:36306027-36306027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174C>T; p.P392S; 22:36318260-36318260	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.498A>G; p.E166E; 22:36327481-36327481	liver	carcinoma	Substitution - coding silent
c.1174C>T; p.P392S; 22:36318260-36318260	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1553C>T; p.P518L; 22:36314146-36314146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4068G>A; p.E1356E; 22:36293356-36293356	NS	NS	Substitution - coding silent
c.2008C>T; p.R670C; 22:36306443-36306443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5588A>G; p.D1863G; 22:36284407-36284407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3127C>T; p.R1043*; 22:36296988-36296988	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5591A>C; p.Q1864P; 22:36284404-36284404	breast	carcinoma	Substitution - Missense
c.3488C>G; p.S1163*; 22:36295074-36295074	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.468C>T; p.T156T; 22:36341392-36341392	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5020_5022delAAG; p.K1674delK; 22:36286757-36286759	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.701G>A; p.R234H; 22:36322433-36322433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4024C>T; p.R1342W; 22:36293400-36293400	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5646C>T; p.A1882A; 22:36284212-36284212	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5595C>T; p.A1865A; 22:36284263-36284263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5721C>T; p.A1907A; 22:36284137-36284137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1088C>T; p.A363V; 22:36319560-36319560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.C91Y; 22:36348965-36348965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.P147L; 22:36341420-36341420	skin	malignant_melanoma	Substitution - Missense
c.134G>A; p.S45N; 22:36349103-36349103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4622T>C; p.L1541P; 22:36288875-36288875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>T; p.I502I; 22:36314193-36314193	skin	malignant_melanoma	Substitution - coding silent
c.5512C>T; p.R1838C; 22:36284483-36284483	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5512C>T; p.R1838C; 22:36284483-36284483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3195C>T; p.A1065A; 22:36296920-36296920	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3195C>T; p.A1065A; 22:36296920-36296920	liver	carcinoma	Substitution - coding silent
c.2427G>A; p.M809I; 22:36302640-36302640	skin	malignant_melanoma	Substitution - Missense
c.5448T>C; p.I1816I; 22:36285156-36285156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5297T>C; p.L1766P; 22:36285307-36285307	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.2404C>T; p.R802W; 22:36302663-36302663	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1898C>T; p.P633L; 22:36306553-36306553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1262C>A; p.T421N; 22:36316635-36316635	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine; colon	carcinoma	Substitution - Missense
c.2008C>A; p.R670S; 22:36306443-36306443	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2968C>A; p.L990M; 22:36300135-36300135	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3758A>C; p.Q1253P; 22:36294171-36294171	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5863G>A; p.E1955K; 22:36282688-36282688	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2968C>A; p.L990M; 22:36300135-36300135	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4078G>A; p.A1360T; 22:36293346-36293346	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.705+1G>A; p.?; 22:36322428-36322428	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.4817C>T; p.S1606L; 22:36288367-36288367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>T; p.R263C; 22:36320879-36320879	skin	malignant_melanoma	Substitution - Missense
c.2159+2T>C; p.?; 22:36305928-36305928	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5376C>T; p.V1792V; 22:36285228-36285228	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.615C>T; p.G205G; 22:36322519-36322519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4296G>A; p.Q1432Q; 22:36292034-36292034	thyroid	other; neoplasm	Substitution - coding silent
c.615C>T; p.G205G; 22:36322519-36322519	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.493C>T; p.R165*; 22:36327486-36327486	kidney	other; neoplasm	Substitution - Nonsense
c.452A>G; p.Y151C; 22:36341408-36341408	liver	carcinoma	Substitution - Missense
c.2499G>T; p.K833N; 22:36302568-36302568	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2290C>T; p.R764C; 22:36304095-36304095	breast	carcinoma	Substitution - Missense
c.2052C>T; p.D684D; 22:36306037-36306037	skin	malignant_melanoma	Substitution - coding silent
c.2399C>T; p.A800V; 22:36302668-36302668	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.540G>T; p.K180N; 22:36326640-36326640	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2951A>G; p.E984G; 22:36300152-36300152	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1519G>C; p.D507H; 22:36314180-36314180	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3037G>T; p.E1013*; 22:36298982-36298982	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4122G>A; p.E1374E; 22:36292208-36292208	skin	malignant_melanoma	Substitution - coding silent
c.1588G>A; p.E530K; 22:36312189-36312189	breast	carcinoma	Substitution - Missense
c.1588G>A; p.E530K; 22:36312189-36312189	breast	carcinoma	Substitution - Missense
c.1588G>A; p.E530K; 22:36312189-36312189	prostate	carcinoma	Substitution - Missense
c.3786C>T; p.N1262N; 22:36294143-36294143	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.495A>T; p.R165R; 22:36327484-36327484	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3720A>G; p.K1240K; 22:36294209-36294209	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2183C>T; p.S728F; 22:36305079-36305079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2127C>T; p.P709P; 22:36305962-36305962	skin	malignant_melanoma	Substitution - coding silent
c.2146G>C; p.E716Q; 22:36305943-36305943	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1565C>T; p.P522L; 22:36312212-36312212	breast	carcinoma	Substitution - Missense
c.4975G>A; p.A1659T; 22:36286804-36286804	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5677C>G; p.R1893G; 22:36284181-36284181	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4049_4051delAGG; p.E1350delE; 22:36293373-36293375	stomach	adenocarcinoma	Deletion - In frame
c.5781G>A; p.P1927P; 22:36282770-36282770	pancreas	NS	Substitution - coding silent
c.5089C>T; p.R1697C; 22:36285926-36285926	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1896G>A; p.L632L; 22:36306555-36306555	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1118A>T; p.K373M; 22:36318316-36318316	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5089C>T; p.R1697C; 22:36285926-36285926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5546T>C; p.L1849P; 22:36284449-36284449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>A; p.R398Q; 22:36318241-36318241	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1366T>G; p.F456V; 22:36316531-36316531	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1096C>T; p.P366S; 22:36319552-36319552	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2043C>A; p.G681G; 22:36306046-36306046	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4713G>T; p.R1571R; 22:36288784-36288784	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2043C>A; p.G681G; 22:36306046-36306046	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4717C>A; p.L1573M; 22:36288780-36288780	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3803G>A; p.R1268H; 22:36294126-36294126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4204G>A; p.E1402K; 22:36292126-36292126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2490C>T; p.L830L; 22:36302577-36302577	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2655G>T; p.L885L; 22:36301034-36301034	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2237C>T; p.A746V; 22:36304148-36304148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1158C>T; p.T386T; 22:36318276-36318276	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4866_4867GG>TT; p.E1623*; 22:36288317-36288318	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.224T>C; p.M75T; 22:36349013-36349013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1313A>G; p.D438G; 22:36316584-36316584	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2333A>C; p.K778T; 22:36304052-36304052	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2871C>T; p.S957S; 22:36300232-36300232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.700C>T; p.R234C; 22:36322434-36322434	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.5328C>T; p.N1776N; 22:36285276-36285276	ovary	other; neoplasm	Substitution - coding silent
c.959A>T; p.Q320L; 22:36320273-36320273	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2349C>T; p.I783I; 22:36304036-36304036	skin	malignant_melanoma	Substitution - coding silent
c.109G>C; p.D37H; 22:36349128-36349128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4448G>A; p.R1483Q; 22:36289194-36289194	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5494G>A; p.A1832T; 22:36284501-36284501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2229G>A; p.M743I; 22:36305033-36305033	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2056C>T; p.H686Y; 22:36306033-36306033	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2056C>T; p.H686Y; 22:36306033-36306033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2056C>T; p.H686Y; 22:36306033-36306033	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2152C>T; p.R718W; 22:36305937-36305937	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1854C>T; p.I618I; 22:36306597-36306597	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3867C>A; p.L1289L; 22:36293834-36293834	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1577C>T; p.A526V; 22:36312200-36312200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1577C>T; p.A526V; 22:36312200-36312200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1660C>A; p.P554T; 22:36312117-36312117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2256T>C; p.N752N; 22:36304129-36304129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1258G>T; p.A420S; 22:36316639-36316639	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3797G>A; p.R1266H; 22:36294132-36294132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2256T>C; p.N752N; 22:36304129-36304129	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5338C>A; p.R1780R; 22:36285266-36285266	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1566G>A; p.P522P; 22:36312211-36312211	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5055G>A; p.L1685L; 22:36286724-36286724	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2391_2392delAG; p.K797fs*103; 22:36302675-36302676	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2573G>C; p.R858T; 22:36301592-36301592	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1089G>A; p.A363A; 22:36319559-36319559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4616C>T; p.T1539M; 22:36288881-36288881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4616C>T; p.T1539M; 22:36288881-36288881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617H; 22:36306601-36306601	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089G>A; p.A363A; 22:36319559-36319559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2573G>C; p.R858T; 22:36301592-36301592	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1850G>A; p.R617H; 22:36306601-36306601	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2430G>C; p.K810N; 22:36302637-36302637	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3445G>T; p.E1149*; 22:36295545-36295545	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.5671G>A; p.A1891T; 22:36284187-36284187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4966G>A; p.D1656N; 22:36286813-36286813	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1056C>T; p.I352I; 22:36319592-36319592	skin	malignant_melanoma	Substitution - coding silent
c.2680G>A; p.E894K; 22:36301009-36301009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3100G>A; p.E1034K; 22:36298919-36298919	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2007C>G; p.V669V; 22:36306444-36306444	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2119G>C; p.G707R; 22:36305970-36305970	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1475A>G; p.Y492C; 22:36314224-36314224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4333_4335delAAG; p.K1445delK; 22:36291995-36291997	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.4974C>T; p.R1658R; 22:36286805-36286805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3682delG; p.E1228fs*6; 22:36294247-36294247	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5651A>G; p.E1884G; 22:36284207-36284207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1804C>T; p.Q602*; 22:36309321-36309321	breast	carcinoma	Substitution - Nonsense
c.4510A>G; p.T1504A; 22:36289132-36289132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5807G>A; p.R1936Q; 22:36282744-36282744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1245G>A; p.E415E; 22:36316652-36316652	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5647_5658del12; p.E1883_A1886delEEEA; 22:36284200-36284211	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.5251C>T; p.R1751W; 22:36285681-36285681	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]