Entrez Gene

Basic Information
Gene ID	55749
Name	CCAR1
Synonymous	cell division cycle and apoptosis regulator 1;CCAR1;cell division cycle and apoptosis regulator 1
Definition	cell cycle and apoptosis regulatory protein 1\|cell division cycle and apoptosis regulator protein 1\|death inducer with SAP domain
Position	10q21.3
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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 0.25.

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.1049G>T; p.R350L; 10:68749616-68749616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.611G>A; p.R204K; 10:68747253-68747253	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>T; p.R350L; 10:68749616-68749616	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.83G>T; p.G28V; 10:68736885-68736885	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.3421C>A; p.Q1141K; 10:68791234-68791234	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.103C>T; p.L35F; 10:68736905-68736905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2678G>A; p.R893Q; 10:68786163-68786163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2678G>A; p.R893Q; 10:68786163-68786163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2163T>C; p.Y721Y; 10:68765944-68765944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.671C>T; p.P224L; 10:68747411-68747411	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1366A>G; p.S456G; 10:68754735-68754735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.104T>C; p.L35P; 10:68736906-68736906	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2974T>C; p.S992P; 10:68788020-68788020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2974T>C; p.S992P; 10:68788020-68788020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522T>C; p.L508L; 10:68755433-68755433	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2141G>A; p.R714H; 10:68765922-68765922	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1066C>T; p.R356*; 10:68749633-68749633	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1066C>T; p.R356*; 10:68749633-68749633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1551C>A; p.P517P; 10:68755462-68755462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551C>A; p.P517P; 10:68755462-68755462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2537A>T; p.K846M; 10:68771444-68771444	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1933C>T; p.R645*; 10:68761019-68761019	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2365T>C; p.S789P; 10:68771272-68771272	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2975C>T; p.S992F; 10:68788021-68788021	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3285A>T; p.E1095D; 10:68789807-68789807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2326G>A; p.E776K; 10:68771233-68771233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1751C>G; p.S584*; 10:68756398-68756398	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2326G>A; p.E776K; 10:68771233-68771233	urinary_tract; bladder	carcinoma	Substitution - Missense
c.379C>T; p.Q127*; 10:68742430-68742430	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2326G>A; p.E776K; 10:68771233-68771233	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.850C>T; p.R284C; 10:68749159-68749159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1132_1134delATG; p.M379delM; 10:68753865-68753867	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.2521G>T; p.D841Y; 10:68771428-68771428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.468A>G; p.K156K; 10:68742519-68742519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.468A>G; p.K156K; 10:68742519-68742519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551C>T; p.P517P; 10:68755462-68755462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2391G>C; p.E797D; 10:68771298-68771298	breast	carcinoma	Substitution - Missense
c.1983G>T; p.Q661H; 10:68761069-68761069	breast	carcinoma	Substitution - Missense
c.480G>A; p.T160T; 10:68742531-68742531	thyroid	other; neoplasm	Substitution - coding silent
c.1549_1550CC>TT; p.P517F; 10:68755460-68755461	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2881-1G>A; p.?; 10:68787926-68787926	cervix	carcinoma; squamous_cell_carcinoma	Unknown
c.3271A>G; p.S1091G; 10:68789793-68789793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.246+1G>C; p.?; 10:68737049-68737049	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.246+1G>C; p.?; 10:68737049-68737049	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3013T>G; p.L1005V; 10:68788154-68788154	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2400A>G; p.K800K; 10:68771307-68771307	ovary	other; neoplasm	Substitution - coding silent
c.331G>T; p.V111F; 10:68742382-68742382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.410C>G; p.S137C; 10:68742461-68742461	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.410C>G; p.S137C; 10:68742461-68742461	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43C>T; p.Q15*; 10:68722547-68722547	breast	carcinoma	Substitution - Nonsense
c.1837G>A; p.D613N; 10:68757294-68757294	skin; trunk	malignant_melanoma	Substitution - Missense
c.43C>T; p.Q15*; 10:68722547-68722547	breast	carcinoma	Substitution - Nonsense
c.2612A>G; p.D871G; 10:68773061-68773061	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.409T>C; p.S137P; 10:68742460-68742460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.409T>C; p.S137P; 10:68742460-68742460	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2014G>T; p.V672L; 10:68761100-68761100	thyroid	other; neoplasm	Substitution - Missense
c.369G>A; p.Q123Q; 10:68742420-68742420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1643T>A; p.I548N; 10:68756290-68756290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2919T>G; p.S973S; 10:68787965-68787965	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2255T>C; p.L752P; 10:68766036-68766036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3169T>C; p.L1057L; 10:68788310-68788310	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3214T>G; p.L1072V; 10:68789736-68789736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1116T>A; p.D372E; 10:68749683-68749683	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.979C>T; p.R327C; 10:68749546-68749546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1268A>T; p.H423L; 10:68754001-68754001	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.813G>T; p.Q271H; 10:68747553-68747553	breast	carcinoma	Substitution - Missense
c.813G>T; p.Q271H; 10:68747553-68747553	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	thyroid	other; neoplasm	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	thyroid	other; neoplasm	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	breast	carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	thyroid	other; neoplasm	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2425G>C; p.D809H; 10:68771332-68771332	breast	carcinoma	Substitution - Missense
c.214C>A; p.Q72K; 10:68737016-68737016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1804C>T; p.Q602*; 10:68756451-68756451	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.2582C>G; p.T861S; 10:68773031-68773031	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.953G>A; p.R318Q; 10:68749262-68749262	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2284G>C; p.E762Q; 10:68766065-68766065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1345G>A; p.V449I; 10:68754714-68754714	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1345G>A; p.V449I; 10:68754714-68754714	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.973_974delGA; p.E325fs*3; 10:68749540-68749541	large_intestine; colon	carcinoma	Deletion - Frameshift
c.2260G>A; p.D754N; 10:68766041-68766041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.899G>A; p.R300Q; 10:68749208-68749208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2542G>C; p.E848Q; 10:68772991-68772991	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.198T>C; p.T66T; 10:68737000-68737000	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.43C>G; p.Q15E; 10:68722547-68722547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1785G>A; p.Q595Q; 10:68756432-68756432	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1655G>A; p.R552H; 10:68756302-68756302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1655G>A; p.R552H; 10:68756302-68756302	breast	carcinoma	Substitution - Missense
c.1093C>T; p.Q365*; 10:68749660-68749660	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2380C>T; p.P794S; 10:68771287-68771287	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.105T>C; p.L35L; 10:68736907-68736907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2254C>T; p.L752L; 10:68766035-68766035	skin	malignant_melanoma	Substitution - coding silent
c.2976T>C; p.S992S; 10:68788022-68788022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1718T>A; p.F573Y; 10:68756365-68756365	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3080A>C; p.Y1027S; 10:68788221-68788221	breast	carcinoma	Substitution - Missense
c.83G>A; p.G28D; 10:68736885-68736885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.859T>C; p.S287P; 10:68749168-68749168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.980G>A; p.R327H; 10:68749547-68749547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.178A>C; p.N60H; 10:68736980-68736980	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1945G>A; p.E649K; 10:68761031-68761031	skin; trunk	malignant_melanoma	Substitution - Missense
c.961_964delGAGA; p.R324fs*47; 10:68749528-68749531	breast	carcinoma	Deletion - Frameshift
c.1289A>G; p.E430G; 10:68754022-68754022	skin	malignant_melanoma	Substitution - Missense
c.3308T>C; p.M1103T; 10:68789830-68789830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2948C>G; p.S983*; 10:68787994-68787994	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1244A>C; p.N415T; 10:68753977-68753977	skin; trunk	malignant_melanoma	Substitution - Missense
c.2971G>T; p.E991*; 10:68788017-68788017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1399C>G; p.L467V; 10:68754768-68754768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117T>C; p.C373R; 10:68749684-68749684	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162T>G; p.L388V; 10:68753895-68753895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.211C>T; p.Q71*; 10:68737013-68737013	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.211C>T; p.Q71*; 10:68737013-68737013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3370delG; p.E1124fs*11; 10:68789892-68789892	breast	carcinoma	Deletion - Frameshift
c.1550C>A; p.P517H; 10:68755461-68755461	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.247-1G>T; p.?; 10:68737844-68737844	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2316A>C; p.E772D; 10:68771223-68771223	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1968A>G; p.K656K; 10:68761054-68761054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.431C>A; p.P144H; 10:68742482-68742482	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.431C>A; p.P144H; 10:68742482-68742482	large_intestine; colon	carcinoma	Substitution - Missense
c.2742A>G; p.E914E; 10:68786554-68786554	bone; pelvis	chondrosarcoma	Substitution - coding silent
c.448T>G; p.F150V; 10:68742499-68742499	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.479C>T; p.T160M; 10:68742530-68742530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1758G>T; p.W586C; 10:68756405-68756405	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1134G>C; p.M378I; 10:68753867-68753867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.641C>T; p.S214L; 10:68747381-68747381	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.575A>G; p.Y192C; 10:68747217-68747217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3300G>A; p.S1100S; 10:68789822-68789822	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3300G>A; p.S1100S; 10:68789822-68789822	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.961_962delGA; p.E325fs*3; 10:68749528-68749529	NS	malignant_melanoma	Deletion - Frameshift
c.961_962delGA; p.E325fs*3; 10:68749528-68749529	breast	carcinoma	Deletion - Frameshift
c.526A>T; p.K176*; 10:68747168-68747168	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1952G>A; p.R651Q; 10:68761038-68761038	breast	carcinoma	Substitution - Missense
c.1079C>T; p.P360L; 10:68749646-68749646	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.696A>C; p.P232P; 10:68747436-68747436	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.530G>T; p.G177V; 10:68747172-68747172	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.696A>C; p.P232P; 10:68747436-68747436	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.973G>T; p.E325*; 10:68749540-68749540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.952C>T; p.R318*; 10:68749261-68749261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2594A>G; p.N865S; 10:68773043-68773043	NS	NS	Substitution - Missense
c.3271_3274delAGTC; p.Q1092fs*5; 10:68789793-68789796	liver	carcinoma	Deletion - Frameshift
c.74-1G>T; p.?; 10:68736875-68736875	lung	carcinoma; small_cell_carcinoma	Unknown
c.411C>T; p.S137S; 10:68742462-68742462	skin	malignant_melanoma	Substitution - coding silent
c.411C>T; p.S137S; 10:68742462-68742462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.642G>A; p.S214S; 10:68747382-68747382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.944A>T; p.K315I; 10:68749253-68749253	ovary	other; neoplasm	Substitution - Missense
c.1819G>A; p.E607K; 10:68756466-68756466	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1550C>T; p.P517L; 10:68755461-68755461	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1645C>T; p.R549C; 10:68756292-68756292	skin	malignant_melanoma	Substitution - Missense
c.1645C>T; p.R549C; 10:68756292-68756292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1678C>T; p.R560C; 10:68756325-68756325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1070G>A; p.R357H; 10:68749637-68749637	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1070G>A; p.R357H; 10:68749637-68749637	breast	carcinoma	Substitution - Missense
c.1606C>T; p.L536L; 10:68755517-68755517	skin	malignant_melanoma	Substitution - coding silent
c.1459-1G>T; p.?; 10:68755369-68755369	autonomic_ganglia	neuroblastoma	Unknown
c.1070G>A; p.R357H; 10:68749637-68749637	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1389G>T; p.K463N; 10:68754758-68754758	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>A; p.R383H; 10:68753881-68753881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1985T>G; p.L662*; 10:68761071-68761071	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3119A>G; p.K1040R; 10:68788260-68788260	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1571C>A; p.A524D; 10:68755482-68755482	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.210G>T; p.Q70H; 10:68737012-68737012	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2150G>A; p.R717Q; 10:68765931-68765931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1939G>T; p.E647*; 10:68761025-68761025	breast	carcinoma	Substitution - Nonsense
c.600G>C; p.W200C; 10:68747242-68747242	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3122T>C; p.L1041S; 10:68788263-68788263	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2879A>G; p.Q960R; 10:68786691-68786691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1143A>G; p.L381L; 10:68753876-68753876	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2338A>G; p.R780G; 10:68771245-68771245	liver	carcinoma	Substitution - Missense
c.2338A>G; p.R780G; 10:68771245-68771245	liver	carcinoma	Substitution - Missense
c.292T>C; p.L98L; 10:68740629-68740629	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1417G>A; p.E473K; 10:68754786-68754786	skin	malignant_melanoma	Substitution - Missense
c.860C>G; p.S287*; 10:68749169-68749169	skin	malignant_melanoma	Substitution - Nonsense
c.2018A>C; p.E673A; 10:68761104-68761104	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1549C>T; p.P517S; 10:68755460-68755460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538_539CC>TT; p.P180F; 10:68747180-68747181	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3196_3197insA; p.T1068fs*15; 10:68789718-68789719	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1593G>C; p.L531L; 10:68755504-68755504	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266G>A; p.M422I; 10:68753999-68753999	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.817C>T; p.Q273*; 10:68747557-68747557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.450C>T; p.F150F; 10:68742501-68742501	skin	malignant_melanoma	Substitution - coding silent
c.1980C>T; p.S660S; 10:68761066-68761066	skin	malignant_melanoma	Substitution - coding silent
c.1030C>T; p.P344S; 10:68749597-68749597	skin	malignant_melanoma	Substitution - Missense
c.1680T>C; p.R560R; 10:68756327-68756327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1951C>T; p.R651*; 10:68761037-68761037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1951C>T; p.R651*; 10:68761037-68761037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1951C>T; p.R651*; 10:68761037-68761037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.466A>G; p.K156E; 10:68742517-68742517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.466A>G; p.K156E; 10:68742517-68742517	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2626G>C; p.E876Q; 10:68773075-68773075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.466A>G; p.K156E; 10:68742517-68742517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1993C>T; p.R665*; 10:68761079-68761079	skin	malignant_melanoma	Substitution - Nonsense
c.231A>T; p.A77A; 10:68737033-68737033	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.231A>T; p.A77A; 10:68737033-68737033	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1423C>A; p.R475R; 10:68754792-68754792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1130A>G; p.D377G; 10:68753863-68753863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.767C>A; p.S256Y; 10:68747507-68747507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.637C>T; p.Q213*; 10:68747377-68747377	breast	carcinoma	Substitution - Nonsense
c.2440delA; p.E816fs*75; 10:68771347-68771347	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1041G>A; p.E347E; 10:68749608-68749608	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2181G>A; p.P727P; 10:68765962-68765962	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

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]