Entrez Gene

Basic Information
Gene ID	64682
Name	ANAPC1
Synonymous	anaphase promoting complex subunit 1;ANAPC1;anaphase promoting complex subunit 1
Definition	anaphase-promoting complex 1 (meiotic checkpoint regulator)\|anaphase-promoting complex subunit 1\|cyclosome subunit 1\|mitotic checkpoint regulator\|testis-specific gene 24 protein
Position	2q12.1
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.03.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1673C>T; p.P558L; 2:111847843-111847843	skin	malignant_melanoma	Substitution - Missense
c.5308C>A; p.L1770I; 2:111778752-111778752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1580G>A; p.R527Q; 2:111850846-111850846	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1580G>A; p.R527Q; 2:111850846-111850846	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1633C>T; p.L545F; 2:111850793-111850793	skin	malignant_melanoma	Substitution - Missense
c.1580G>A; p.R527Q; 2:111850846-111850846	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1377G>A; p.E459E; 2:111856868-111856868	skin	malignant_melanoma	Substitution - coding silent
c.3641C>T; p.A1214V; 2:111809138-111809138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3832+7G>A; p.?; 2:111808940-111808940	stomach	carcinoma; adenocarcinoma	Unknown
c.3832+7G>A; p.?; 2:111808940-111808940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3832+7G>A; p.?; 2:111808940-111808940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.941C>T; p.P314L; 2:111863786-111863786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1115C>A; p.S372*; 2:111862536-111862536	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1115C>A; p.S372*; 2:111862536-111862536	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3640G>T; p.A1214S; 2:111809139-111809139	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4798C>T; p.R1600W; 2:111788235-111788235	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5091A>G; p.L1697L; 2:111782480-111782480	pancreas	carcinoma	Substitution - coding silent
c.4984C>A; p.L1662I; 2:111784334-111784334	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4984C>A; p.L1662I; 2:111784334-111784334	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1560G>T; p.T520T; 2:111850866-111850866	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2765C>T; p.S922F; 2:111825013-111825013	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1085C>T; p.S362F; 2:111862566-111862566	skin	malignant_melanoma	Substitution - Missense
c.5308C>T; p.L1770F; 2:111778752-111778752	skin	malignant_melanoma	Substitution - Missense
c.5176_5177AG>TC; p.R1726S; 2:111782394-111782395	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3278A>C; p.H1093P; 2:111818887-111818887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5302C>A; p.L1768M; 2:111778758-111778758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1135A>T; p.K379*; 2:111862516-111862516	skin	malignant_melanoma	Substitution - Nonsense
c.5184T>A; p.S1728S; 2:111782387-111782387	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1691C>T; p.S564L; 2:111847825-111847825	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5203-3delT; p.?; 2:111780388-111780388	stomach	adenocarcinoma	Unknown
c.1894G>T; p.E632*; 2:111843558-111843558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.572G>A; p.R191Q; 2:111872669-111872669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.664C>G; p.P222A; 2:111868044-111868044	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.664C>G; p.P222A; 2:111868044-111868044	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.664C>G; p.P222A; 2:111868044-111868044	prostate	carcinoma	Substitution - Missense
c.4341G>A; p.P1447P; 2:111794850-111794850	breast	carcinoma	Substitution - coding silent
c.1737G>A; p.Q579Q; 2:111847779-111847779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2076G>A; p.A692A; 2:111838477-111838477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.530T>C; p.V177A; 2:111872711-111872711	skin	malignant_melanoma	Substitution - Missense
c.1064C>T; p.S355F; 2:111862587-111862587	skin	malignant_melanoma	Substitution - Missense
c.1549C>A; p.P517T; 2:111850877-111850877	breast	carcinoma	Substitution - Missense
c.2804C>G; p.T935S; 2:111824974-111824974	pancreas	carcinoma	Substitution - Missense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	thyroid	other; neoplasm	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	thyroid	other; neoplasm	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393C>T; p.Q465*; 2:111856852-111856852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4958C>T; p.A1653V; 2:111784360-111784360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3620G>A; p.G1207E; 2:111809159-111809159	breast	carcinoma	Substitution - Missense
c.4978C>T; p.L1660F; 2:111784340-111784340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1286A>C; p.K429T; 2:111858378-111858378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3716C>T; p.T1239M; 2:111809063-111809063	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.5064-7C>A; p.?; 2:111782514-111782514	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1308A>G; p.L436L; 2:111858356-111858356	thyroid	other; neoplasm	Substitution - coding silent
c.1308A>G; p.L436L; 2:111858356-111858356	thyroid	other; neoplasm	Substitution - coding silent
c.1308A>G; p.L436L; 2:111858356-111858356	liver	carcinoma	Substitution - coding silent
c.1308A>G; p.L436L; 2:111858356-111858356	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1308A>G; p.L436L; 2:111858356-111858356	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.5667C>T; p.L1889L; 2:111772393-111772393	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.982C>T; p.Q328*; 2:111863745-111863745	skin; arm	malignant_melanoma	Substitution - Nonsense
c.1308A>G; p.L436L; 2:111858356-111858356	liver	carcinoma	Substitution - coding silent
c.1396C>T; p.L466F; 2:111856849-111856849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1358G>T; p.R453L; 2:111858306-111858306	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1040T>C; p.M347T; 2:111863687-111863687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2368C>T; p.L790F; 2:111834620-111834620	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2282C>T; p.A761V; 2:111834706-111834706	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2612G>A; p.R871K; 2:111831299-111831299	breast	carcinoma	Substitution - Missense
c.1020C>T; p.R340R; 2:111863707-111863707	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2537A>C; p.Q846P; 2:111831374-111831374	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1852+4C>T; p.?; 2:111847134-111847134	pancreas	carcinoma	Unknown
c.5130A>G; p.E1710E; 2:111782441-111782441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1628A>C; p.K543T; 2:111850798-111850798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2300A>G; p.H767R; 2:111834688-111834688	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1596A>T; p.L532L; 2:111850830-111850830	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4981C>T; p.H1661Y; 2:111784337-111784337	skin	malignant_melanoma	Substitution - Missense
c.2160G>A; p.E720E; 2:111834828-111834828	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5355G>A; p.E1785E; 2:111778705-111778705	skin	malignant_melanoma	Substitution - coding silent
c.1645G>C; p.D549H; 2:111850781-111850781	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4774T>C; p.F1592L; 2:111788259-111788259	skin	malignant_melanoma	Substitution - Missense
c.4217T>C; p.L1406P; 2:111802432-111802432	breast	carcinoma	Substitution - Missense
c.1791G>A; p.L597L; 2:111847725-111847725	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1791G>A; p.L597L; 2:111847725-111847725	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4972C>T; p.P1658S; 2:111784346-111784346	skin	malignant_melanoma	Substitution - Missense
c.4972C>T; p.P1658S; 2:111784346-111784346	skin	malignant_melanoma	Substitution - Missense
c.1353G>C; p.Q451H; 2:111858311-111858311	thyroid	other; neoplasm	Substitution - Missense
c.1353G>C; p.Q451H; 2:111858311-111858311	thyroid	other; neoplasm	Substitution - Missense
c.1844C>G; p.S615C; 2:111847146-111847146	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1388A>C; p.K463T; 2:111856857-111856857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1353G>C; p.Q451H; 2:111858311-111858311	thyroid	other; neoplasm	Substitution - Missense
c.3670A>G; p.I1224V; 2:111809109-111809109	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1353G>C; p.Q451H; 2:111858311-111858311	thyroid	other; neoplasm	Substitution - Missense
c.2731G>A; p.E911K; 2:111825141-111825141	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.3780A>G; p.V1260V; 2:111808999-111808999	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.869delG; p.G290fs*26; 2:111863858-111863858	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1609A>G; p.T537A; 2:111850817-111850817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4918G>A; p.G1640S; 2:111784400-111784400	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	skin	malignant_melanoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5112T>G; p.G1704G; 2:111782459-111782459	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1609A>G; p.T537A; 2:111850817-111850817	NS	malignant_melanoma	Substitution - Missense
c.4918G>A; p.G1640S; 2:111784400-111784400	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>G; p.T537A; 2:111850817-111850817	skin	malignant_melanoma	Substitution - Missense
c.1288G>C; p.V430L; 2:111858376-111858376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2292C>T; p.F764F; 2:111834696-111834696	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1456G>C; p.D486H; 2:111856673-111856673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.940C>T; p.P314S; 2:111863787-111863787	skin	malignant_melanoma	Substitution - Missense
c.2729A>G; p.Q910R; 2:111825143-111825143	pancreas	carcinoma	Substitution - Missense
c.2729A>G; p.Q910R; 2:111825143-111825143	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1995G>A; p.M665I; 2:111843457-111843457	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1526T>C; p.V509A; 2:111850900-111850900	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1995G>A; p.M665I; 2:111843457-111843457	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1545A>C; p.P515P; 2:111850881-111850881	skin	malignant_melanoma	Substitution - coding silent
c.2705C>T; p.A902V; 2:111825167-111825167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.688C>A; p.L230I; 2:111864949-111864949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4747G>A; p.A1583T; 2:111788286-111788286	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4747G>A; p.A1583T; 2:111788286-111788286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.428-3C>T; p.?; 2:111873411-111873411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4468A>G; p.K1490E; 2:111794128-111794128	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.415G>C; p.E139Q; 2:111873625-111873625	breast	carcinoma	Substitution - Missense
c.2314G>A; p.E772K; 2:111834674-111834674	skin	malignant_melanoma	Substitution - Missense
c.3172A>C; p.S1058R; 2:111821273-111821273	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4676A>G; p.H1559R; 2:111792398-111792398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4736C>A; p.S1579Y; 2:111788297-111788297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988C>T; p.R330C; 2:111863739-111863739	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2131C>A; p.L711I; 2:111834857-111834857	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4753C>A; p.L1585I; 2:111788280-111788280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4551C>T; p.S1517S; 2:111792523-111792523	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5178G>A; p.R1726R; 2:111782393-111782393	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1450-2_1450-1insA; p.?; 2:111856680-111856681	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1859C>T; p.T620M; 2:111843593-111843593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5782T>G; p.L1928V; 2:111769344-111769344	breast	carcinoma	Substitution - Missense
c.1109A>G; p.N370S; 2:111862542-111862542	skin	malignant_melanoma	Substitution - Missense
c.1030A>T; p.I344F; 2:111863697-111863697	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4649T>A; p.M1550K; 2:111792425-111792425	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1952C>G; p.P651R; 2:111843500-111843500	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.6G>A; p.S2S; 2:111880820-111880820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4731A>C; p.S1577S; 2:111788302-111788302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6G>A; p.S2S; 2:111880820-111880820	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2654A>G; p.E885G; 2:111825827-111825827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5202G>A; p.K1734K; 2:111782369-111782369	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.655G>A; p.E219K; 2:111868053-111868053	breast	carcinoma	Substitution - Missense
c.3677G>A; p.R1226Q; 2:111809102-111809102	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.937T>C; p.S313P; 2:111863790-111863790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4501G>T; p.A1501S; 2:111794095-111794095	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.993A>G; p.S331S; 2:111863734-111863734	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4500C>T; p.S1500S; 2:111794096-111794096	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4500C>T; p.S1500S; 2:111794096-111794096	thyroid	other; neoplasm	Substitution - coding silent
c.4500C>T; p.S1500S; 2:111794096-111794096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4500C>T; p.S1500S; 2:111794096-111794096	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.5608G>T; p.A1870S; 2:111772452-111772452	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.529-10delT; p.?; 2:111872722-111872722	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.5070C>T; p.I1690I; 2:111782501-111782501	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1702G>A; p.D568N; 2:111847814-111847814	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2709C>A; p.P903P; 2:111825163-111825163	prostate	adenoma	Substitution - coding silent
c.1022C>T; p.S341L; 2:111863705-111863705	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1358+2T>C; p.?; 2:111858304-111858304	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.656A>G; p.E219G; 2:111868052-111868052	skin	malignant_melanoma	Substitution - Missense
c.2571G>T; p.M857I; 2:111831340-111831340	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1680G>T; p.L560L; 2:111847836-111847836	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.4306G>A; p.E1436K; 2:111794885-111794885	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5355G>T; p.E1785D; 2:111778705-111778705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3680T>A; p.L1227H; 2:111809099-111809099	skin	malignant_melanoma	Substitution - Missense
c.1406G>A; p.G469D; 2:111856839-111856839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5705C>T; p.P1902L; 2:111772355-111772355	skin	malignant_melanoma	Substitution - Missense
c.1524G>A; p.K508K; 2:111850902-111850902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1357C>T; p.R453C; 2:111858307-111858307	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4770G>A; p.P1590P; 2:111788263-111788263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2252C>T; p.S751F; 2:111834736-111834736	skin; extremity	malignant_melanoma	Substitution - Missense
c.2365C>T; p.L789F; 2:111834623-111834623	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2713A>C; p.K905Q; 2:111825159-111825159	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2365C>T; p.L789F; 2:111834623-111834623	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1805G>A; p.G602D; 2:111847185-111847185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.732G>T; p.M244I; 2:111864905-111864905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4143-7C>T; p.?; 2:111802513-111802513	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2576C>T; p.P859L; 2:111831335-111831335	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1199C>T; p.T400M; 2:111862452-111862452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3186C>T; p.F1062F; 2:111821259-111821259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4169C>A; p.P1390H; 2:111802480-111802480	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5177G>C; p.R1726T; 2:111782394-111782394	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2781T>G; p.A927A; 2:111824997-111824997	skin	malignant_melanoma	Substitution - coding silent
c.4406G>T; p.C1469F; 2:111794291-111794291	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1171T>G; p.S391A; 2:111862480-111862480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2021G>A; p.R674H; 2:111843431-111843431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2122G>A; p.E708K; 2:111834866-111834866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4537G>T; p.E1513*; 2:111792537-111792537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.840T>A; p.N280K; 2:111863887-111863887	skin	malignant_melanoma	Substitution - Missense
c.1431G>A; p.K477K; 2:111856814-111856814	skin	malignant_melanoma	Substitution - coding silent
c.5304G>T; p.L1768L; 2:111778756-111778756	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4332C>T; p.I1444I; 2:111794859-111794859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1450-3_1450-2insT; p.?; 2:111856681-111856682	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1358+8T>C; p.?; 2:111858298-111858298	stomach	adenocarcinoma	Unknown
c.3227G>A; p.R1076Q; 2:111818938-111818938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174A>G; p.N392D; 2:111862477-111862477	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5085_5086GG>TT; p.V1696F; 2:111782485-111782486	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5310C>G; p.L1770L; 2:111778750-111778750	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.675T>C; p.C225C; 2:111868033-111868033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.631T>G; p.F211V; 2:111868077-111868077	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1358+8T>G; p.?; 2:111858298-111858298	liver	carcinoma	Unknown
c.3123_3124delTC; p.Q1042fs*17; 2:111821321-111821322	oesophagus	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.670G>C; p.V224L; 2:111868038-111868038	pancreas	other; adenoma	Substitution - Missense
c.1870G>A; p.A624T; 2:111843582-111843582	NS	malignant_melanoma	Substitution - Missense
c.5373C>A; p.I1791I; 2:111778687-111778687	thyroid	other; neoplasm	Substitution - coding silent
c.5373C>A; p.I1791I; 2:111778687-111778687	thyroid	other; neoplasm	Substitution - coding silent
c.5373C>A; p.I1791I; 2:111778687-111778687	thyroid	other; neoplasm	Substitution - coding silent
c.2346A>C; p.G782G; 2:111834642-111834642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.548C>G; p.T183S; 2:111872693-111872693	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2207C>T; p.S736L; 2:111834781-111834781	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1384G>A; p.D462N; 2:111856861-111856861	skin	malignant_melanoma	Substitution - Missense
c.1247C>T; p.T416M; 2:111862404-111862404	skin; extremity	malignant_melanoma	Substitution - Missense
c.1247C>T; p.T416M; 2:111862404-111862404	breast	carcinoma	Substitution - Missense
c.1612C>G; p.P538A; 2:111850814-111850814	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1247C>T; p.T416M; 2:111862404-111862404	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4953G>T; p.L1651F; 2:111784365-111784365	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1247C>T; p.T416M; 2:111862404-111862404	breast	carcinoma	Substitution - Missense
c.42A>C; p.A14A; 2:111880784-111880784	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4739C>T; p.S1580F; 2:111788294-111788294	NS	malignant_melanoma	Substitution - Missense
c.4755C>G; p.L1585L; 2:111788278-111788278	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4739C>T; p.S1580F; 2:111788294-111788294	NS	malignant_melanoma	Substitution - Missense
c.2672A>C; p.E891A; 2:111825809-111825809	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2511delT; p.F837fs*12; 2:111831400-111831400	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2143T>C; p.Y715H; 2:111834845-111834845	skin	malignant_melanoma	Substitution - Missense
c.1412T>C; p.V471A; 2:111856833-111856833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 2:111843452-111843452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4799G>A; p.R1600Q; 2:111788234-111788234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4953G>C; p.L1651F; 2:111784365-111784365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2205T>C; p.A735A; 2:111834783-111834783	breast	carcinoma	Substitution - coding silent
c.5034A>C; p.I1678I; 2:111783926-111783926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1599T>C; p.D533D; 2:111850827-111850827	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4655A>G; p.Y1552C; 2:111792419-111792419	breast	carcinoma	Substitution - Missense
c.4589C>T; p.S1530L; 2:111792485-111792485	urinary_tract; bladder	carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]