lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	659
Symbol	BMPR2
Synonymous	BMPR-II\|BMPR3\|BMR2\|BRK-3\|POVD1\|PPH1\|T-ALK
Full name	bone morphogenetic protein receptor, type II (serine/threonine kinase)
Gene description	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
Cytoband	2q33-q34
Gene type	protein-coding
Synonymous	MIM:600799; HGNC:HGNC:1078; Ensembl:ENSG00000204217; HPRD:02880; Vega:OTTHUMG00000133617

COSMIC somatic mutation

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

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation