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	168667
Symbol	BMPER
Synonymous	CRIM3\|CV-2\|CV2
Full name	BMP binding endothelial regulator
Gene description	BMP-binding endothelial regulator precursor protein\|BMP-binding endothelial regulator protein\|bone morphogenetic protein-binding endothelial cell precursor-derived regulator\|crossveinless 2\|crossveinless-2\|hCV2
Cytoband	7p14.3
Gene type	protein-coding
Synonymous	MIM:608699; HGNC:HGNC:24154; Ensembl:ENSG00000164619; HPRD:16368; Vega:OTTHUMG00000128675

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.72C>T; p.C24C; 7:33905685-33905685	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.787G>T; p.D263Y; 7:34055163-34055163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.531G>T; p.E177D; 7:33974739-33974739	pancreas	carcinoma	Substitution - Missense
c.1316G>A; p.R439H; 7:34079094-34079094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1461G>T; p.P487P; 7:34085808-34085808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1225G>A; p.A409T; 7:34079003-34079003	skin	malignant_melanoma	Substitution - Missense
c.1607G>A; p.R536K; 7:34085954-34085954	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1461G>T; p.P487P; 7:34085808-34085808	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.538C>A; p.Q180K; 7:33974746-33974746	liver	carcinoma	Substitution - Missense
c.538C>A; p.Q180K; 7:33974746-33974746	liver	carcinoma	Substitution - Missense
c.1009A>T; p.I337F; 7:34058140-34058140	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.133G>A; p.G45S; 7:33905746-33905746	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1228C>T; p.R410C; 7:34079006-34079006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1025G>A; p.C342Y; 7:34058156-34058156	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.G136G; 7:33970334-33970334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1906G>A; p.D636N; 7:34153121-34153121	skin	malignant_melanoma	Substitution - Missense
c.1906G>A; p.D636N; 7:34153121-34153121	skin	malignant_melanoma	Substitution - Missense
c.1328C>T; p.S443L; 7:34079106-34079106	skin	malignant_melanoma	Substitution - Missense
c.1552G>C; p.D518H; 7:34085899-34085899	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.422_423insT; p.G142fs*9; 7:33970348-33970349	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1759G>T; p.D587Y; 7:34143243-34143243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689T>C; p.V230A; 7:34051873-34051873	breast	carcinoma	Substitution - Missense
c.2024G>T; p.R675M; 7:34153239-34153239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.699C>T; p.L233L; 7:34051883-34051883	skin	malignant_melanoma	Substitution - coding silent
c.240G>A; p.K80K; 7:33937309-33937309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.727G>A; p.D243N; 7:34051911-34051911	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1767T>C; p.C589C; 7:34143251-34143251	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329G>C; p.S443S; 7:34079107-34079107	thyroid	other; neoplasm	Substitution - coding silent
c.1329G>C; p.S443S; 7:34079107-34079107	thyroid	other; neoplasm	Substitution - coding silent
c.1329G>C; p.S443S; 7:34079107-34079107	thyroid	other; neoplasm	Substitution - coding silent
c.1263G>A; p.V421V; 7:34079041-34079041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1189C>A; p.P397T; 7:34078967-34078967	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2040C>A; p.V680V; 7:34153255-34153255	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1764G>T; p.M588I; 7:34143248-34143248	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.66G>A; p.T22T; 7:33905679-33905679	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1905C>A; p.Y635*; 7:34153120-34153120	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1612C>T; p.Q538*; 7:34085959-34085959	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.523G>A; p.E175K; 7:33974731-33974731	skin	malignant_melanoma	Substitution - Missense
c.1158T>C; p.C386C; 7:34078936-34078936	ovary	other; neoplasm	Substitution - coding silent
c.819C>T; p.S273S; 7:34055195-34055195	skin	malignant_melanoma	Substitution - coding silent
c.308A>T; p.E103V; 7:33937377-33937377	thyroid	carcinoma	Substitution - Missense
c.2036C>T; p.P679L; 7:34153251-34153251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.941G>T; p.W314L; 7:34058072-34058072	skin	malignant_melanoma	Substitution - Missense
c.1245C>T; p.F415F; 7:34079023-34079023	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1154C>T; p.T385M; 7:34078932-34078932	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1154C>T; p.T385M; 7:34078932-34078932	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1154C>T; p.T385M; 7:34078932-34078932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551G>A; p.S184N; 7:33974759-33974759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.906A>C; p.K302N; 7:34055282-34055282	skin	malignant_melanoma	Substitution - Missense
c.1229G>A; p.R410H; 7:34079007-34079007	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2001A>G; p.A667A; 7:34153216-34153216	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1537G>A; p.G513R; 7:34085884-34085884	skin	malignant_melanoma	Substitution - Missense
c.1725G>A; p.V575V; 7:34086072-34086072	breast	carcinoma	Substitution - coding silent
c.1976G>T; p.C659F; 7:34153191-34153191	breast	carcinoma	Substitution - Missense
c.1829A>C; p.Q610P; 7:34143313-34143313	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1264G>A; p.E422K; 7:34079042-34079042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1221C>T; p.N407N; 7:34078999-34078999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.746C>T; p.S249F; 7:34051930-34051930	skin	malignant_melanoma	Substitution - Missense
c.815G>T; p.C272F; 7:34055191-34055191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.746C>T; p.S249F; 7:34051930-34051930	skin	malignant_melanoma	Substitution - Missense
c.192C>T; p.D64D; 7:33906876-33906876	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1338G>T; p.A446A; 7:34079116-34079116	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1732G>A; p.A578T; 7:34086079-34086079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.R332H; 7:34058126-34058126	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2055G>A; p.R685R; 7:34153270-34153270	skin	malignant_melanoma	Substitution - coding silent
c.2055G>A; p.R685R; 7:34153270-34153270	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1317C>T; p.R439R; 7:34079095-34079095	skin	malignant_melanoma	Substitution - coding silent
c.1152G>A; p.G384G; 7:34078930-34078930	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.517T>C; p.Y173H; 7:33974725-33974725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1557G>A; p.V519V; 7:34085904-34085904	skin	malignant_melanoma	Substitution - coding silent
c.862G>C; p.E288Q; 7:34055238-34055238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>A; p.I321I; 7:34058094-34058094	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1446A>G; p.E482E; 7:34085793-34085793	skin	malignant_melanoma	Substitution - coding silent
c.1768G>A; p.E590K; 7:34143252-34143252	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1352C>T; p.A451V; 7:34079130-34079130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1352C>T; p.A451V; 7:34079130-34079130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.747C>A; p.S249S; 7:34051931-34051931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1745+4A>G; p.?; 7:34086096-34086096	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.927+2T>C; p.?; 7:34055305-34055305	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1824C>G; p.A608A; 7:34143308-34143308	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1192G>A; p.A398T; 7:34078970-34078970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1164C>A; p.Y388*; 7:34078942-34078942	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.648C>T; p.P216P; 7:34046377-34046377	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1204C>T; p.Q402*; 7:34078982-34078982	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.871C>A; p.L291I; 7:34055247-34055247	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1320G>A; p.W440*; 7:34079098-34079098	skin	malignant_melanoma	Substitution - Nonsense
c.102delC; p.M36fs*8; 7:33905715-33905715	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1849C>T; p.H617Y; 7:34143333-34143333	skin	malignant_melanoma	Substitution - Missense
c.1087G>A; p.V363I; 7:34078865-34078865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1152G>T; p.G384G; 7:34078930-34078930	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.874C>T; p.R292*; 7:34055250-34055250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.491C>T; p.P164L; 7:33970417-33970417	skin	malignant_melanoma	Substitution - Missense
c.476G>A; p.C159Y; 7:33970402-33970402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1295T>C; p.L432P; 7:34079073-34079073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1120A>G; p.T374A; 7:34078898-34078898	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.875G>A; p.R292Q; 7:34055251-34055251	skin	malignant_melanoma	Substitution - Missense
c.1120A>G; p.T374A; 7:34078898-34078898	liver	carcinoma	Substitution - Missense
c.875G>A; p.R292Q; 7:34055251-34055251	skin	malignant_melanoma	Substitution - Missense
c.291G>T; p.Q97H; 7:33937360-33937360	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>G; p.I643M; 7:34153144-34153144	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1368C>T; p.I456I; 7:34079146-34079146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1919C>T; p.P640L; 7:34153134-34153134	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1919C>T; p.P640L; 7:34153134-34153134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1919C>T; p.P640L; 7:34153134-34153134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1708A>C; p.T570P; 7:34086055-34086055	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1698G>A; p.W566*; 7:34086045-34086045	skin	malignant_melanoma	Substitution - Nonsense
c.883C>T; p.P295S; 7:34055259-34055259	skin	malignant_melanoma	Substitution - Missense
c.425G>T; p.G142V; 7:33970351-33970351	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.425G>T; p.G142V; 7:33970351-33970351	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1147C>T; p.Q383*; 7:34078925-34078925	skin	malignant_melanoma	Substitution - Nonsense
c.342C>A; p.T114T; 7:33966501-33966501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.448A>G; p.K150E; 7:33970374-33970374	prostate	carcinoma	Substitution - Missense
c.1197G>A; p.S399S; 7:34078975-34078975	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1922G>A; p.G641E; 7:34153137-34153137	skin	malignant_melanoma	Substitution - Missense
c.747C>T; p.S249S; 7:34051931-34051931	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.246G>T; p.E82D; 7:33937315-33937315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.115G>A; p.A39T; 7:33905728-33905728	liver	carcinoma	Substitution - Missense
c.1755G>T; p.V585V; 7:34143239-34143239	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.115G>A; p.A39T; 7:33905728-33905728	liver	carcinoma	Substitution - Missense
c.1364A>C; p.H455P; 7:34079142-34079142	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.578G>A; p.G193E; 7:34046307-34046307	skin; scalp	malignant_melanoma	Substitution - Missense
c.829G>A; p.G277S; 7:34055205-34055205	skin	malignant_melanoma	Substitution - Missense
c.1327T>C; p.S443P; 7:34079105-34079105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588A>T; p.T196T; 7:34046317-34046317	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.924C>T; p.F308F; 7:34055300-34055300	skin	malignant_melanoma	Substitution - coding silent
c.134-1G>A; p.?; 7:33906817-33906817	stomach	carcinoma; adenocarcinoma	Unknown
c.277C>G; p.L93V; 7:33937346-33937346	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1238G>A; p.R413H; 7:34079016-34079016	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.507G>T; p.E169D; 7:33974715-33974715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1373T>C; p.L458P; 7:34079151-34079151	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.41A>C; p.Y14S; 7:33905654-33905654	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2031C>A; p.I677I; 7:34153246-34153246	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.760G>A; p.D254N; 7:34051944-34051944	skin	malignant_melanoma	Substitution - Missense
c.167T>C; p.V56A; 7:33906851-33906851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.527G>T; p.G176V; 7:33974735-33974735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1159C>A; p.Q387K; 7:34078937-34078937	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1227C>A; p.A409A; 7:34079005-34079005	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.340A>G; p.T114A; 7:33966499-33966499	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.782G>A; p.C261Y; 7:34051966-34051966	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.889G>T; p.D297Y; 7:34055265-34055265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1951G>A; p.E651K; 7:34153166-34153166	skin	malignant_melanoma	Substitution - Missense
c.49C>A; p.R17S; 7:33905662-33905662	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1857G>T; p.E619D; 7:34143341-34143341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.793A>G; p.T265A; 7:34055169-34055169	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793A>G; p.T265A; 7:34055169-34055169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.918G>T; p.K306N; 7:34055294-34055294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1850A>C; p.H617P; 7:34143334-34143334	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1773T>G; p.C591W; 7:34143257-34143257	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1330_1340del11; p.R444fs*57; 7:34079108-34079118	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Deletion - Frameshift
c.875G>T; p.R292L; 7:34055251-34055251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1392A>T; p.K464N; 7:34079170-34079170	ovary	other; neoplasm	Substitution - Missense
c.1663C>T; p.R555W; 7:34086010-34086010	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1349G>A; p.R450H; 7:34079127-34079127	pancreas	carcinoma	Substitution - Missense
c.335G>A; p.G112E; 7:33966494-33966494	skin	malignant_melanoma	Substitution - Missense
c.1351G>T; p.A451S; 7:34079129-34079129	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1349G>A; p.R450H; 7:34079127-34079127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1663C>T; p.R555W; 7:34086010-34086010	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1162T>C; p.Y388H; 7:34078940-34078940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>A; p.G362S; 7:34078862-34078862	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1819C>T; p.R607W; 7:34143303-34143303	oesophagus	carcinoma	Substitution - Missense
c.1055G>A; p.G352E; 7:34062024-34062024	skin	malignant_melanoma	Substitution - Missense
c.569C>T; p.S190F; 7:33974777-33974777	skin	malignant_melanoma	Substitution - Missense
c.1084G>A; p.G362S; 7:34078862-34078862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2020G>A; p.G674R; 7:34153235-34153235	skin	malignant_melanoma	Substitution - Missense
c.757T>A; p.Y253N; 7:34051941-34051941	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1166delT; p.L390fs*1; 7:34078944-34078944	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1374G>A; p.L458L; 7:34079152-34079152	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1176A>T; p.K392N; 7:34078954-34078954	skin	malignant_melanoma	Substitution - Missense
c.1259C>T; p.S420L; 7:34079037-34079037	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1552G>T; p.D518Y; 7:34085899-34085899	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1196C>T; p.S399L; 7:34078974-34078974	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1196C>T; p.S399L; 7:34078974-34078974	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1869T>C; p.N623N; 7:34143353-34143353	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2035C>T; p.P679S; 7:34153250-34153250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1935G>C; p.T645T; 7:34153150-34153150	thyroid	other; neoplasm	Substitution - coding silent
c.1353G>A; p.A451A; 7:34079131-34079131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1426G>C; p.D476H; 7:34085773-34085773	urinary_tract; bladder	carcinoma	Substitution - Missense
c.256G>T; p.V86L; 7:33937325-33937325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.516G>C; p.Q172H; 7:33974724-33974724	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327C>T; p.T109T; 7:33966486-33966486	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.105C>A; p.P35P; 7:33905718-33905718	thyroid	other; neoplasm	Substitution - coding silent
c.327C>T; p.T109T; 7:33966486-33966486	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2011C>T; p.L671F; 7:34153226-34153226	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1279G>A; p.E427K; 7:34079057-34079057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>A; p.E427K; 7:34079057-34079057	skin	malignant_melanoma	Substitution - Missense
c.1284C>T; p.S428S; 7:34079062-34079062	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1284C>T; p.S428S; 7:34079062-34079062	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1231C>T; p.R411W; 7:34079009-34079009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1754T>C; p.V585A; 7:34143238-34143238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.855T>C; p.C285C; 7:34055231-34055231	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.570C>T; p.S190S; 7:33974778-33974778	skin	malignant_melanoma	Substitution - coding silent
c.952A>C; p.N318H; 7:34058083-34058083	breast	carcinoma	Substitution - Missense
c.785G>T; p.R262M; 7:34051969-34051969	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1286G>A; p.R429K; 7:34079064-34079064	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.R505H; 7:34085861-34085861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918C>A; p.P640T; 7:34153133-34153133	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1183T>C; p.S395P; 7:34078961-34078961	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1820G>T; p.R607L; 7:34143304-34143304	skin	malignant_melanoma	Substitution - Missense
c.1894G>A; p.G632S; 7:34153109-34153109	skin	malignant_melanoma	Substitution - Missense
c.169C>T; p.L57F; 7:33906853-33906853	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1325G>A; p.G442D; 7:34079103-34079103	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>T; p.R81I; 7:33937311-33937311	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.234A>C; p.T78T; 7:33937303-33937303	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1315C>T; p.R439C; 7:34079093-34079093	prostate	carcinoma	Substitution - Missense
c.1755G>A; p.V585V; 7:34143239-34143239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1040T>A; p.I347N; 7:34062009-34062009	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.599G>A; p.R200K; 7:34046328-34046328	skin	malignant_melanoma	Substitution - Missense
c.1362C>T; p.F454F; 7:34079140-34079140	skin	malignant_melanoma	Substitution - coding silent
c.721C>A; p.R241R; 7:34051905-34051905	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239C>T; p.R413R; 7:34079017-34079017	pancreas	carcinoma	Substitution - coding silent
c.460G>A; p.E154K; 7:33970386-33970386	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2050C>T; p.Q684*; 7:34153265-34153265	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1842C>T; p.I614I; 7:34143326-34143326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1275G>T; p.L425L; 7:34079053-34079053	skin; leg	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2050C>T; p.Q684*; 7:34153265-34153265	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1369G>A; p.D457N; 7:34079147-34079147	skin	malignant_melanoma	Substitution - Missense
c.1699G>A; p.E567K; 7:34086046-34086046	breast	carcinoma	Substitution - Missense
c.1884G>T; p.Q628H; 7:34153099-34153099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2048C>T; p.P683L; 7:34153263-34153263	skin	malignant_melanoma	Substitution - Missense
c.424delG; p.V143fs*57; 7:33970350-33970350	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.18C>A; p.G6G; 7:33905631-33905631	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1769A>C; p.E590A; 7:34143253-34143253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1958G>T; p.G653V; 7:34153173-34153173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.402+1G>T; p.?; 7:33966562-33966562	lung	carcinoma; adenocarcinoma	Unknown
c.1170G>A; p.L390L; 7:34078948-34078948	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.810G>A; p.R270R; 7:34055186-34055186	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395G>C; p.V465V; 7:34079173-34079173	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.810G>A; p.R270R; 7:34055186-34055186	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.697C>T; p.L233F; 7:34051881-34051881	skin	malignant_melanoma	Substitution - Missense
c.993T>C; p.C331C; 7:34058124-34058124	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1673G>A; p.R558Q; 7:34086020-34086020	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.376G>T; p.E126*; 7:33966535-33966535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.754C>A; p.L252M; 7:34051938-34051938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1898C>T; p.A633V; 7:34153113-34153113	skin	malignant_melanoma	Substitution - Missense
c.1898C>T; p.A633V; 7:34153113-34153113	skin	malignant_melanoma	Substitution - Missense
c.1421C>A; p.S474Y; 7:34085768-34085768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1226delC; p.R410fs*54; 7:34079004-34079004	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1459C>A; p.P487T; 7:34085806-34085806	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1745+5G>T; p.?; 7:34086097-34086097	breast	carcinoma; ductal_carcinoma	Unknown
c.1745+5G>T; p.?; 7:34086097-34086097	liver	carcinoma	Unknown
c.1016T>G; p.I339S; 7:34058147-34058147	liver	carcinoma	Substitution - Missense
c.1237C>T; p.R413C; 7:34079015-34079015	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1927A>T; p.I643F; 7:34153142-34153142	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.430C>T; p.R144C; 7:33970356-33970356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.534A>C; p.E178D; 7:33974742-33974742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>T; p.S479I; 7:34085783-34085783	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.424G>A; p.G142R; 7:33970350-33970350	skin	malignant_melanoma	Substitution - Missense
c.632A>G; p.H211R; 7:34046361-34046361	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.271T>A; p.C91S; 7:33937340-33937340	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.625C>G; p.P209A; 7:34046354-34046354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1562A>C; p.D521A; 7:34085909-34085909	skin	malignant_melanoma	Substitution - Missense
c.1590C>T; p.S530S; 7:34085937-34085937	skin	malignant_melanoma	Substitution - coding silent
c.722G>A; p.R241Q; 7:34051906-34051906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.722G>A; p.R241Q; 7:34051906-34051906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.722G>A; p.R241Q; 7:34051906-34051906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.722G>A; p.R241Q; 7:34051906-34051906	breast	carcinoma	Substitution - Missense
c.188C>G; p.T63R; 7:33906872-33906872	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.851G>A; p.G284D; 7:34055227-34055227	skin	malignant_melanoma	Substitution - Missense
c.1222G>A; p.D408N; 7:34079000-34079000	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1859C>T; p.P620L; 7:34143343-34143343	skin	malignant_melanoma	Substitution - Missense
c.577-1_577GG>TT; p.?; 7:34046305-34046306	lung; middle_lobe	carcinoma; adenocarcinoma	Unknown
c.1108C>T; p.P370S; 7:34078886-34078886	NS	malignant_melanoma	Substitution - Missense
c.1108C>T; p.P370S; 7:34078886-34078886	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1108C>T; p.P370S; 7:34078886-34078886	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation