Entrez Gene

Basic Information
Gene ID	659
Name	BMPR2
Synonymous	bone morphogenetic protein receptor, type II (serine/threonine kinase);BMPR2;bone morphogenetic protein receptor, type II (serine/threonine kinase)
Definition	BMP type II receptor\|BMP type-2 receptor\|BMPR-2\|bone morphogenetic protein receptor type II\|bone morphogenetic protein receptor type-2\|type II activin receptor-like kinase\|type II receptor for bone morphogenetic protein-4
Position	2q33-q34
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 0.34.

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.1258T>C; p.C420R; 2:202532714-202532714	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.714G>A; p.Q238Q; 2:202518914-202518914	breast	carcinoma	Substitution - coding silent
c.1738G>A; p.G580R; 2:202555403-202555403	liver	carcinoma	Substitution - Missense
c.1738G>A; p.G580R; 2:202555403-202555403	liver	carcinoma	Substitution - Missense
c.1157A>G; p.E386G; 2:202532613-202532613	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.160_161insA; p.N55fs*10; 2:202464892-202464893	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2053C>T; p.L685F; 2:202555718-202555718	skin	malignant_melanoma	Substitution - Missense
c.1565C>A; p.S522Y; 2:202552867-202552867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1748delA; p.N583fs*44; 2:202555413-202555413	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1748delA; p.N583fs*44; 2:202555413-202555413	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.464T>A; p.L155*; 2:202513764-202513764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.116C>T; p.P39L; 2:202464848-202464848	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1133G>A; p.G378D; 2:202532589-202532589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2651T>C; p.L884P; 2:202556316-202556316	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.744A>T; p.R248S; 2:202518944-202518944	liver	carcinoma	Substitution - Missense
c.2651T>C; p.L884P; 2:202556316-202556316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.744A>T; p.R248S; 2:202518944-202518944	liver	carcinoma	Substitution - Missense
c.2433T>G; p.G811G; 2:202556098-202556098	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1790G>A; p.R597Q; 2:202555455-202555455	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1467G>T; p.E489D; 2:202552769-202552769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1790G>A; p.R597Q; 2:202555455-202555455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.848C>T; p.P283L; 2:202519048-202519048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1323delA; p.N442fs*32; 2:202542357-202542357	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2231C>T; p.P744L; 2:202555896-202555896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2005G>A; p.D669N; 2:202555670-202555670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2593G>A; p.D865N; 2:202556258-202556258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2000A>C; p.K667T; 2:202555665-202555665	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1956C>T; p.T652T; 2:202555621-202555621	skin	malignant_melanoma	Substitution - coding silent
c.1957C>G; p.P653A; 2:202555622-202555622	breast	carcinoma	Substitution - Missense
c.27G>A; p.W9*; 2:202377501-202377501	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.535C>T; p.R179C; 2:202514893-202514893	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1172C>A; p.A391D; 2:202532628-202532628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>T; p.R179C; 2:202514893-202514893	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>T; p.R179C; 2:202514893-202514893	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2534A>T; p.E845V; 2:202556199-202556199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1768G>A; p.E590K; 2:202555433-202555433	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2617C>T; p.R873*; 2:202556282-202556282	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2617C>T; p.R873*; 2:202556282-202556282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2617C>T; p.R873*; 2:202556282-202556282	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2617C>T; p.R873*; 2:202556282-202556282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1023_1024insA; p.N343fs*2; 2:202530849-202530850	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2883A>G; p.Q961Q; 2:202559712-202559712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>T; p.G390*; 2:202532624-202532624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2309G>A; p.R770Q; 2:202555974-202555974	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1607G>A; p.R536H; 2:202555272-202555272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2010delA; p.E672fs*28; 2:202555675-202555675	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2273T>C; p.L758S; 2:202555938-202555938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2294C>T; p.S765L; 2:202555959-202555959	urinary_tract; bladder	carcinoma	Substitution - Missense
c.849C>A; p.P283P; 2:202519049-202519049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1789C>T; p.R597*; 2:202555454-202555454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1272C>T; p.F424F; 2:202532728-202532728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.940_941insT; p.Y314fs*13; 2:202520174-202520175	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.694delT; p.S233fs*19; 2:202518894-202518894	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1773A>G; p.R591R; 2:202555438-202555438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1640C>T; p.S547F; 2:202555305-202555305	urinary_tract; bladder	carcinoma	Substitution - Missense
c.846T>A; p.Y282*; 2:202519046-202519046	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1471C>T; p.R491W; 2:202552773-202552773	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.918T>G; p.H306Q; 2:202520152-202520152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1471C>T; p.R491W; 2:202552773-202552773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1010G>A; p.R337K; 2:202530836-202530836	breast	carcinoma	Substitution - Missense
c.2297C>T; p.T766I; 2:202555962-202555962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.642T>A; p.Y214*; 2:202518842-202518842	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2169C>T; p.F723F; 2:202555834-202555834	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2819C>G; p.S940C; 2:202556484-202556484	ovary	other; neoplasm	Substitution - Missense
c.1683C>A; p.S561R; 2:202555348-202555348	skin	malignant_melanoma	Substitution - Missense
c.3033C>T; p.S1011S; 2:202559862-202559862	skin	malignant_melanoma	Substitution - coding silent
c.1311G>A; p.Q437Q; 2:202542345-202542345	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1019T>A; p.L340Q; 2:202530845-202530845	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.687A>G; p.V229V; 2:202518887-202518887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.847C>A; p.P283T; 2:202519047-202519047	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.590C>T; p.S197F; 2:202514948-202514948	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1574T>A; p.M525K; 2:202552876-202552876	breast	carcinoma	Substitution - Missense
c.2819C>A; p.S940Y; 2:202556484-202556484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.536G>A; p.R179H; 2:202514894-202514894	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.496G>T; p.V166F; 2:202513796-202513796	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.849C>T; p.P283P; 2:202519049-202519049	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.536G>A; p.R179H; 2:202514894-202514894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.536G>A; p.R179H; 2:202514894-202514894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1018C>T; p.L340L; 2:202530844-202530844	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1285G>T; p.V429L; 2:202542319-202542319	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.632G>A; p.R211Q; 2:202518832-202518832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1357G>T; p.V453L; 2:202542391-202542391	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1225C>T; p.L409F; 2:202532681-202532681	skin; scalp	malignant_melanoma	Substitution - Missense
c.2273T>A; p.L758*; 2:202555938-202555938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.23C>T; p.P8L; 2:202377497-202377497	skin	malignant_melanoma	Substitution - Missense
c.48G>A; p.W16*; 2:202377522-202377522	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2696G>A; p.R899Q; 2:202556361-202556361	pancreas	carcinoma	Substitution - Missense
c.268G>C; p.D90H; 2:202467539-202467539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2696G>A; p.R899Q; 2:202556361-202556361	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1780G>A; p.A594T; 2:202555445-202555445	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1314_1315delAG; p.E439fs*8; 2:202542348-202542349	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1367delA; p.K457fs*17; 2:202542401-202542401	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2536A>T; p.M846L; 2:202556201-202556201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.439C>T; p.R147*; 2:202513739-202513739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.698C>T; p.S233F; 2:202518898-202518898	skin	malignant_melanoma	Substitution - Missense
c.1749C>A; p.N583K; 2:202555414-202555414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.793_794delGA; p.R266fs*31; 2:202518993-202518994	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2713A>G; p.N905D; 2:202556378-202556378	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.121C>T; p.Q41*; 2:202464853-202464853	breast	carcinoma	Substitution - Nonsense
c.1186G>A; p.D396N; 2:202532642-202532642	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.2261G>A; p.R754K; 2:202555926-202555926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1114G>A; p.A372T; 2:202530940-202530940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2922T>C; p.R974R; 2:202559751-202559751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2618G>A; p.R873Q; 2:202556283-202556283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468A>G; p.A156A; 2:202513768-202513768	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2028C>A; p.N676K; 2:202555693-202555693	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2793G>T; p.K931N; 2:202556458-202556458	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.81G>A; p.S27S; 2:202464813-202464813	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.631C>T; p.R211*; 2:202518831-202518831	large_intestine; colon	carcinoma	Substitution - Nonsense
c.631C>T; p.R211*; 2:202518831-202518831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2776G>A; p.D926N; 2:202556441-202556441	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.412C>A; p.P138T; 2:202467683-202467683	liver	carcinoma	Substitution - Missense
c.1757C>A; p.S586*; 2:202555422-202555422	skin	malignant_melanoma	Substitution - Nonsense
c.1828A>C; p.T610P; 2:202555493-202555493	breast	carcinoma	Substitution - Missense
c.2269A>G; p.S757G; 2:202555934-202555934	liver	carcinoma	Substitution - Missense
c.2269A>G; p.S757G; 2:202555934-202555934	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.361G>A; p.D121N; 2:202467632-202467632	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.931G>A; p.G311R; 2:202520165-202520165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2111C>G; p.S704C; 2:202555776-202555776	urinary_tract; bladder	carcinoma	Substitution - Missense
c.104C>T; p.A35V; 2:202464836-202464836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.104C>T; p.A35V; 2:202464836-202464836	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1748_1749insC; p.R584fs*5; 2:202555413-202555414	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.2443A>G; p.S815G; 2:202556108-202556108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2033A>G; p.K678R; 2:202555698-202555698	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2033A>G; p.K678R; 2:202555698-202555698	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.2942T>C; p.L981P; 2:202559771-202559771	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.518G>C; p.R173T; 2:202513818-202513818	urinary_tract; bladder	carcinoma	Substitution - Missense
c.518G>C; p.R173T; 2:202513818-202513818	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2613G>A; p.L871L; 2:202556278-202556278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1348C>T; p.Q450*; 2:202542382-202542382	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1251_1252delTA; p.M418fs*29; 2:202532707-202532708	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.994C>T; p.R332*; 2:202530820-202530820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1243G>C; p.E415Q; 2:202532699-202532699	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2811G>A; p.R937R; 2:202556476-202556476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2031C>G; p.L677L; 2:202555696-202555696	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.79T>C; p.S27P; 2:202464811-202464811	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1441G>A; p.E481K; 2:202552743-202552743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2485A>G; p.T829A; 2:202556150-202556150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>A; p.R474R; 2:202552724-202552724	breast	carcinoma	Substitution - coding silent
c.576A>G; p.A192A; 2:202514934-202514934	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2885A>G; p.D962G; 2:202559714-202559714	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.158A>G; p.H53R; 2:202464890-202464890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.502T>G; p.L168V; 2:202513802-202513802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.46T>C; p.W16R; 2:202377520-202377520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.115C>T; p.P39S; 2:202464847-202464847	skin; trunk	malignant_melanoma	Substitution - Missense
c.2161C>T; p.Q721*; 2:202555826-202555826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.497T>C; p.V166A; 2:202513797-202513797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.814C>T; p.R272C; 2:202519014-202519014	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2867-2A>T; p.?; 2:202559694-202559694	lung	carcinoma; adenocarcinoma	Unknown
c.2027A>G; p.N676S; 2:202555692-202555692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.757G>C; p.E253Q; 2:202518957-202518957	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.901T>G; p.S301A; 2:202520135-202520135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.687delA; p.V231fs*21; 2:202518887-202518887	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2812C>T; p.P938S; 2:202556477-202556477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>T; p.G410V; 2:202532685-202532685	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2954G>A; p.R985H; 2:202559783-202559783	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2650C>A; p.L884M; 2:202556315-202556315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2420A>G; p.N807S; 2:202556085-202556085	liver	carcinoma	Substitution - Missense
c.2510A>G; p.N837S; 2:202556175-202556175	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2420A>G; p.N807S; 2:202556085-202556085	liver	carcinoma	Substitution - Missense
c.2633G>T; p.G878V; 2:202556298-202556298	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.961C>T; p.R321*; 2:202520195-202520195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961C>T; p.R321*; 2:202520195-202520195	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2274G>A; p.L758L; 2:202555939-202555939	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.893G>A; p.W298*; 2:202520127-202520127	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.991C>T; p.H331Y; 2:202530817-202530817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2377A>G; p.T793A; 2:202556042-202556042	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1750C>T; p.R584*; 2:202555415-202555415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099G>C; p.G367R; 2:202530925-202530925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.R213*; 2:202518837-202518837	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.193delA; p.T65fs*13; 2:202464925-202464925	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.637C>T; p.R213*; 2:202518837-202518837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1033G>T; p.G345*; 2:202530859-202530859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1862C>T; p.T621M; 2:202555527-202555527	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1862C>T; p.T621M; 2:202555527-202555527	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2995G>T; p.E999*; 2:202559824-202559824	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.726C>T; p.N242N; 2:202518926-202518926	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1626T>C; p.P542P; 2:202555291-202555291	breast	carcinoma	Substitution - coding silent
c.1207C>T; p.Q403*; 2:202532663-202532663	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.365T>C; p.L122S; 2:202467636-202467636	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1771C>T; p.R591*; 2:202555436-202555436	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.981T>C; p.P327P; 2:202530807-202530807	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.515A>G; p.Y172C; 2:202513815-202513815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2900C>T; p.S967L; 2:202559729-202559729	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2588G>C; p.S863T; 2:202556253-202556253	pancreas	NS	Substitution - Missense
c.1277-2_1277-1insG; p.?; 2:202542309-202542310	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.181T>A; p.S61T; 2:202464913-202464913	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1630C>T; p.P544S; 2:202555295-202555295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.440G>A; p.R147Q; 2:202513740-202513740	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2339A>G; p.N780S; 2:202556004-202556004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>A; p.R147Q; 2:202513740-202513740	breast	carcinoma	Substitution - Missense
c.2507C>T; p.T836I; 2:202556172-202556172	skin	malignant_melanoma	Substitution - Missense
c.2507C>T; p.T836I; 2:202556172-202556172	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2722A>G; p.N908D; 2:202556387-202556387	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.583G>A; p.E195K; 2:202514941-202514941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2921G>C; p.R974P; 2:202559750-202559750	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.583G>A; p.E195K; 2:202514941-202514941	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.224G>A; p.G75E; 2:202464956-202464956	skin	malignant_melanoma	Substitution - Missense
c.325C>T; p.Q109*; 2:202467596-202467596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.389A>G; p.N130S; 2:202467660-202467660	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.66C>T; p.S22S; 2:202377540-202377540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.607C>G; p.L203V; 2:202514965-202514965	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.16C>T; p.Q6*; 2:202377490-202377490	breast	carcinoma	Substitution - Nonsense
c.16C>T; p.Q6*; 2:202377490-202377490	breast	carcinoma	Substitution - Nonsense
c.853-1G>T; p.?; 2:202520086-202520086	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1614delA; p.I540fs*24; 2:202555279-202555279	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1614delA; p.I540fs*24; 2:202555279-202555279	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2483G>A; p.G828E; 2:202556148-202556148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1614delA; p.I540fs*24; 2:202555279-202555279	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	stomach	adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742delA; p.N583fs*44; 2:202555407-202555407	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift

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]