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	1636
Symbol	ACE
Synonymous	ACE1\|CD143\|DCP\|DCP1\|ICH\|MVCD3
Full name	angiotensin I converting enzyme
Gene description	CD143 antigen\|angiotensin I converting enzyme (peptidyl-dipeptidase A) 1\|angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript\|angiotensin converting enzyme, somatic isoform\|angiotensin-converting enzyme\|carboxycathepsin\|dipeptidyl carboxype
Cytoband	17q23.3
Gene type	protein-coding
Synonymous	MIM:106180; HGNC:HGNC:2707; Ensembl:ENSG00000159640; HPRD:00108; Vega:OTTHUMG00000154927

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.883G>A; p.D295N; 17:63481126-63481126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2253C>T; p.Y751Y; 17:63487021-63487021	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.418-3C>A; p.?; 17:63479004-63479004	ovary	other; neoplasm	Unknown
c.357G>A; p.R119R; 17:63478038-63478038	pancreas	carcinoma	Substitution - coding silent
c.2517G>T; p.E839D; 17:63489008-63489008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3421G>A; p.A1141T; 17:63496434-63496434	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3221G>A; p.W1074*; 17:63494006-63494006	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1886A>C; p.H629P; 17:63484506-63484506	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1886A>C; p.H629P; 17:63484506-63484506	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1886A>C; p.H629P; 17:63484506-63484506	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2242G>A; p.E748K; 17:63487010-63487010	skin	malignant_melanoma	Substitution - Missense
c.1886A>C; p.H629P; 17:63484506-63484506	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.466G>T; p.V156F; 17:63479055-63479055	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.786G>A; p.L262L; 17:63480467-63480467	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1659A>G; p.P553P; 17:63483921-63483921	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2804C>T; p.P935L; 17:63491273-63491273	skin; extremity	malignant_melanoma	Substitution - Missense
c.2381C>T; p.A794V; 17:63488723-63488723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.A195V; 17:63479841-63479841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3283C>T; p.L1095L; 17:63494373-63494373	skin	malignant_melanoma	Substitution - coding silent
c.1365delA; p.M457fs*68; 17:63483051-63483051	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3207C>T; p.V1069V; 17:63493992-63493992	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2776G>A; p.D926N; 17:63491245-63491245	skin	malignant_melanoma	Substitution - Missense
c.1540G>C; p.D514H; 17:63483512-63483512	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1540G>C; p.D514H; 17:63483512-63483512	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.649C>T; p.Q217*; 17:63479906-63479906	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2090C>A; p.T697N; 17:63486588-63486588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2748G>T; p.T916T; 17:63491217-63491217	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2308C>T; p.L770L; 17:63488650-63488650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1292C>T; p.P431L; 17:63482639-63482639	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2299G>C; p.E767Q; 17:63487067-63487067	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1448delC; p.P485fs*40; 17:63483134-63483134	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1448delC; p.P485fs*40; 17:63483134-63483134	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1448delC; p.P485fs*40; 17:63483134-63483134	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2548C>T; p.L850F; 17:63489039-63489039	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.505G>A; p.D169N; 17:63479094-63479094	pancreas	carcinoma	Substitution - Missense
c.1558C>T; p.H520Y; 17:63483530-63483530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1445G>A; p.R482H; 17:63483131-63483131	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.721G>A; p.E241K; 17:63480402-63480402	skin	malignant_melanoma	Substitution - Missense
c.721G>A; p.E241K; 17:63480402-63480402	skin	malignant_melanoma	Substitution - Missense
c.682C>T; p.R228C; 17:63480363-63480363	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.682C>T; p.R228C; 17:63480363-63480363	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2806G>T; p.V936L; 17:63491275-63491275	urinary_tract; bladder	carcinoma	Substitution - Missense
c.682C>T; p.R228C; 17:63480363-63480363	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1929G>T; p.V643V; 17:63485243-63485243	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1581C>G; p.Y527*; 17:63483553-63483553	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Nonsense
c.1794G>C; p.P598P; 17:63484414-63484414	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1432G>A; p.V478I; 17:63483118-63483118	skin	malignant_melanoma	Substitution - Missense
c.613G>A; p.E205K; 17:63479870-63479870	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.E205K; 17:63479870-63479870	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.E205K; 17:63479870-63479870	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1252G>A; p.E418K; 17:63482599-63482599	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1252G>A; p.E418K; 17:63482599-63482599	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.847G>A; p.G283R; 17:63480528-63480528	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.656-2A>T; p.?; 17:63480335-63480335	breast	carcinoma	Unknown
c.2372G>A; p.R791Q; 17:63488714-63488714	skin	malignant_melanoma	Substitution - Missense
c.718C>T; p.L240L; 17:63480399-63480399	pancreas	carcinoma	Substitution - coding silent
c.2356G>A; p.A786T; 17:63488698-63488698	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.914A>G; p.N305S; 17:63481157-63481157	skin	malignant_melanoma	Substitution - Missense
c.1033G>A; p.G345R; 17:63481653-63481653	skin	malignant_melanoma	Substitution - Missense
c.612C>T; p.Y204Y; 17:63479869-63479869	breast	carcinoma	Substitution - coding silent
c.714C>T; p.D238D; 17:63480395-63480395	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1152G>A; p.Q384Q; 17:63482499-63482499	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.623C>A; p.T208N; 17:63479880-63479880	ovary	other; neoplasm	Substitution - Missense
c.714C>T; p.D238D; 17:63480395-63480395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.714C>T; p.D238D; 17:63480395-63480395	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2363A>G; p.E788G; 17:63488705-63488705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1286C>T; p.S429F; 17:63482633-63482633	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2912+2T>C; p.?; 17:63491383-63491383	skin	malignant_melanoma	Unknown
c.790C>T; p.R264C; 17:63480471-63480471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.772G>A; p.V258I; 17:63480453-63480453	breast	carcinoma	Substitution - Missense
c.954C>T; p.N318N; 17:63481574-63481574	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1274C>T; p.A425V; 17:63482621-63482621	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3046G>A; p.E1016K; 17:63493569-63493569	skin	malignant_melanoma	Substitution - Missense
c.1447_1448insC; p.S486fs*29; 17:63483133-63483134	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1379delA; p.I462fs*63; 17:63483065-63483065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2037C>T; p.T679T; 17:63485351-63485351	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1379delA; p.I462fs*63; 17:63483065-63483065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3281G>A; p.R1094K; 17:63494066-63494066	skin	malignant_melanoma	Substitution - Missense
c.2371C>T; p.R791*; 17:63488713-63488713	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1009C>T; p.P337S; 17:63481629-63481629	skin	malignant_melanoma	Substitution - Missense
c.2860G>A; p.E954K; 17:63491329-63491329	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3580G>A; p.A1194T; 17:63496874-63496874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2387G>C; p.R796T; 17:63488729-63488729	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2131C>A; p.Q711K; 17:63486629-63486629	liver	carcinoma	Substitution - Missense
c.3139C>T; p.H1047Y; 17:63493924-63493924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2754G>A; p.R918R; 17:63491223-63491223	skin	malignant_melanoma	Substitution - coding silent
c.1426T>C; p.W476R; 17:63483112-63483112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3696C>T; p.R1232R; 17:63497141-63497141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3020G>T; p.R1007M; 17:63493543-63493543	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3755C>T; p.A1252V; 17:63497200-63497200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2408C>A; p.P803Q; 17:63488750-63488750	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3724C>T; p.R1242C; 17:63497169-63497169	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2781C>A; p.F927L; 17:63491250-63491250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.762C>T; p.L254L; 17:63480443-63480443	skin	malignant_melanoma	Substitution - coding silent
c.2862G>T; p.E954D; 17:63491331-63491331	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2626C>T; p.P876S; 17:63489117-63489117	skin	malignant_melanoma	Substitution - Missense
c.2626C>T; p.P876S; 17:63489117-63489117	skin	malignant_melanoma	Substitution - Missense
c.3684G>A; p.P1228P; 17:63496978-63496978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.340G>A; p.D114N; 17:63478021-63478021	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2708C>T; p.S903L; 17:63491020-63491020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2049C>T; p.S683S; 17:63485363-63485363	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2708C>T; p.S903L; 17:63491020-63491020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1363C>T; p.L455L; 17:63483049-63483049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2911C>T; p.R971W; 17:63491380-63491380	skin	malignant_melanoma	Substitution - Missense
c.3792C>T; p.F1264F; 17:63497237-63497237	skin	malignant_melanoma	Substitution - coding silent
c.2911C>T; p.R971W; 17:63491380-63491380	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2965G>C; p.E989Q; 17:63493488-63493488	breast	carcinoma	Substitution - Missense
c.2790C>T; p.S930S; 17:63491259-63491259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3180C>T; p.I1060I; 17:63493965-63493965	skin	malignant_melanoma	Substitution - coding silent
c.3180C>T; p.I1060I; 17:63493965-63493965	skin	malignant_melanoma	Substitution - coding silent
c.2918A>T; p.K973M; 17:63493441-63493441	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.2910C>T; p.F970F; 17:63491379-63491379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3191C>T; p.P1064L; 17:63493976-63493976	skin	malignant_melanoma	Substitution - Missense
c.2874C>T; p.H958H; 17:63491343-63491343	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.897delT; p.F300fs*156; 17:63481140-63481140	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.2397C>T; p.L799L; 17:63488739-63488739	skin	malignant_melanoma	Substitution - coding silent
c.1346G>A; p.S449N; 17:63483032-63483032	breast	carcinoma	Substitution - Missense
c.287C>T; p.A96V; 17:63477968-63477968	skin	malignant_melanoma	Substitution - Missense
c.1547G>T; p.G516V; 17:63483519-63483519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2913-1G>A; p.?; 17:63493435-63493435	skin	malignant_melanoma	Unknown
c.2913-1G>A; p.?; 17:63493435-63493435	stomach	carcinoma; adenocarcinoma	Unknown
c.1682G>A; p.R561Q; 17:63483944-63483944	skin	malignant_melanoma	Substitution - Missense
c.546delC; p.Y182fs*1; 17:63479803-63479803	breast	carcinoma	Deletion - Frameshift
c.1228C>T; p.R410W; 17:63482575-63482575	skin	malignant_melanoma	Substitution - Missense
c.3721G>A; p.G1241S; 17:63497166-63497166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2877C>T; p.A959A; 17:63491346-63491346	skin	malignant_melanoma	Substitution - coding silent
c.2883C>T; p.A961A; 17:63491352-63491352	skin	malignant_melanoma	Substitution - coding silent
c.3158T>C; p.M1053T; 17:63493943-63493943	skin	malignant_melanoma	Substitution - Missense
c.1239delC; p.G415fs*41; 17:63482586-63482586	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.353G>A; p.R118H; 17:63478034-63478034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2768A>G; p.E923G; 17:63491237-63491237	breast	carcinoma	Substitution - Missense
c.950G>A; p.W317*; 17:63481570-63481570	skin	malignant_melanoma	Substitution - Nonsense
c.1340C>T; p.T447M; 17:63482687-63482687	large_intestine; colon	adenoma	Substitution - Missense
c.793C>G; p.R265G; 17:63480474-63480474	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.533C>G; p.S178C; 17:63479790-63479790	breast	carcinoma	Substitution - Missense
c.813C>A; p.I271I; 17:63480494-63480494	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1453C>T; p.P485S; 17:63483139-63483139	skin; trunk	malignant_melanoma	Substitution - Missense
c.1884G>C; p.W628C; 17:63484504-63484504	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2860G>C; p.E954Q; 17:63491329-63491329	breast	carcinoma	Substitution - Missense
c.1996G>A; p.E666K; 17:63485310-63485310	skin	malignant_melanoma	Substitution - Missense
c.1996G>A; p.E666K; 17:63485310-63485310	skin	malignant_melanoma	Substitution - Missense
c.2633_2634insC; p.L879fs*15; 17:63489124-63489125	breast	carcinoma	Insertion - Frameshift
c.2362G>A; p.E788K; 17:63488704-63488704	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2145C>T; p.T715T; 17:63486643-63486643	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2145C>T; p.T715T; 17:63486643-63486643	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.819C>T; p.L273L; 17:63480500-63480500	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3181G>A; p.A1061T; 17:63493966-63493966	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1523G>A; p.R508Q; 17:63483495-63483495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1523G>A; p.R508Q; 17:63483495-63483495	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1523G>A; p.R508Q; 17:63483495-63483495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1523G>A; p.R508Q; 17:63483495-63483495	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.582C>T; p.N194N; 17:63479839-63479839	thyroid	other; neoplasm	Substitution - coding silent
c.792C>T; p.R264R; 17:63480473-63480473	skin	malignant_melanoma	Substitution - coding silent
c.1093G>C; p.D365H; 17:63481713-63481713	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1447delA; p.T483fs*42; 17:63483133-63483133	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.799G>A; p.G267R; 17:63480480-63480480	skin	malignant_melanoma	Substitution - Missense
c.2104A>G; p.T702A; 17:63486602-63486602	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2104A>G; p.T702A; 17:63486602-63486602	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2104A>G; p.T702A; 17:63486602-63486602	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3282-5delG; p.?; 17:63494367-63494367	liver	carcinoma	Unknown
c.2767G>T; p.E923*; 17:63491236-63491236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1470C>T; p.F490F; 17:63483156-63483156	skin	malignant_melanoma	Substitution - coding silent
c.221A>C; p.N74T; 17:63477315-63477315	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3626G>A; p.R1209H; 17:63496920-63496920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2988C>T; p.F996F; 17:63493511-63493511	breast	carcinoma	Substitution - coding silent
c.1352T>C; p.I451T; 17:63483038-63483038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1210C>G; p.L404V; 17:63482557-63482557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2585G>A; p.R862H; 17:63489076-63489076	prostate	carcinoma	Substitution - Missense
c.2919G>T; p.K973N; 17:63493442-63493442	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>A; p.R410Q; 17:63482576-63482576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2572C>T; p.R858W; 17:63489063-63489063	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2041G>T; p.E681*; 17:63485355-63485355	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.440T>C; p.M147T; 17:63479029-63479029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1429G>A; p.G477R; 17:63483115-63483115	skin	malignant_melanoma	Substitution - Missense
c.1241C>T; p.P414L; 17:63482588-63482588	skin	malignant_melanoma	Substitution - Missense
c.2654C>T; p.A885V; 17:63490966-63490966	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3131G>T; p.S1044I; 17:63493654-63493654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>A; p.L465M; 17:63483079-63483079	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3437C>T; p.A1146V; 17:63496450-63496450	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2654C>T; p.A885V; 17:63490966-63490966	urinary_tract; bladder	carcinoma	Substitution - Missense
c.791G>A; p.R264H; 17:63480472-63480472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.918C>G; p.L306L; 17:63481161-63481161	kidney	other; neoplasm	Substitution - coding silent
c.791G>A; p.R264H; 17:63480472-63480472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1488-2A>G; p.?; 17:63483458-63483458	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3515A>G; p.K1172R; 17:63496809-63496809	skin	malignant_melanoma	Substitution - Missense
c.2355G>T; p.W785C; 17:63488697-63488697	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1170T>C; p.H390H; 17:63482517-63482517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2005G>A; p.E669K; 17:63485319-63485319	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2005G>A; p.E669K; 17:63485319-63485319	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1275G>A; p.A425A; 17:63482622-63482622	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.312G>T; p.L104L; 17:63477993-63477993	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2604C>A; p.H868Q; 17:63489095-63489095	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1528G>A; p.E510K; 17:63483500-63483500	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2570G>A; p.R857H; 17:63489061-63489061	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>A; p.E510K; 17:63483500-63483500	skin	malignant_melanoma	Substitution - Missense
c.1528G>A; p.E510K; 17:63483500-63483500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3503+1G>A; p.?; 17:63496517-63496517	stomach	carcinoma; adenocarcinoma	Unknown
c.1425C>T; p.R475R; 17:63483111-63483111	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.279T>C; p.F93F; 17:63477960-63477960	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1708C>T; p.R570W; 17:63483970-63483970	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1604T>C; p.V535A; 17:63483866-63483866	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3682C>T; p.P1228S; 17:63496976-63496976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1325G>A; p.R442H; 17:63482672-63482672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3682C>T; p.P1228S; 17:63496976-63496976	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2021A>G; p.Y674C; 17:63485335-63485335	liver	carcinoma	Substitution - Missense
c.3218G>T; p.R1073L; 17:63494003-63494003	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1233G>A; p.G411G; 17:63482580-63482580	skin	malignant_melanoma	Substitution - coding silent
c.2021A>G; p.Y674C; 17:63485335-63485335	liver	carcinoma	Substitution - Missense
c.981G>A; p.E327E; 17:63481601-63481601	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2651G>A; p.W884*; 17:63490963-63490963	skin	malignant_melanoma	Substitution - Nonsense
c.2163A>G; p.I721M; 17:63486661-63486661	skin	malignant_melanoma	Substitution - Missense
c.2578C>A; p.L860M; 17:63489069-63489069	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2695C>T; p.P899S; 17:63491007-63491007	skin	malignant_melanoma	Substitution - Missense
c.669G>A; p.T223T; 17:63480350-63480350	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3492G>A; p.G1164G; 17:63496505-63496505	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2519G>C; p.R840P; 17:63489010-63489010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2806G>A; p.V936M; 17:63491275-63491275	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1513C>G; p.P505A; 17:63483485-63483485	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2709G>A; p.S903S; 17:63491021-63491021	skin	malignant_melanoma	Substitution - coding silent
c.546C>T; p.Y182Y; 17:63479803-63479803	central_nervous_system; brain	glioma	Substitution - coding silent
c.1642G>T; p.A548S; 17:63483904-63483904	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3060C>T; p.D1020D; 17:63493583-63493583	breast	carcinoma	Substitution - coding silent
c.2518C>T; p.R840W; 17:63489009-63489009	central_nervous_system; brain	glioma	Substitution - Missense
c.3666G>A; p.P1222P; 17:63496960-63496960	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3226G>T; p.V1076L; 17:63494011-63494011	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3226G>T; p.V1076L; 17:63494011-63494011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3296G>A; p.G1099D; 17:63494386-63494386	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2384G>A; p.G795E; 17:63488726-63488726	thyroid	carcinoma	Substitution - Missense
c.3632A>C; p.E1211A; 17:63496926-63496926	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.P202L; 17:63479862-63479862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.525C>T; p.I175I; 17:63479782-63479782	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2132A>G; p.Q711R; 17:63486630-63486630	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2132A>G; p.Q711R; 17:63486630-63486630	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2176G>A; p.D726N; 17:63486674-63486674	skin	malignant_melanoma	Substitution - Missense
c.3451C>T; p.P1151S; 17:63496464-63496464	skin	malignant_melanoma	Substitution - Missense
c.3681G>T; p.T1227T; 17:63496975-63496975	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1577C>A; p.P526Q; 17:63483549-63483549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3561G>A; p.T1187T; 17:63496855-63496855	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2466G>A; p.G822G; 17:63488957-63488957	skin	malignant_melanoma	Substitution - coding silent
c.1237A>C; p.N413H; 17:63482584-63482584	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3149A>C; p.N1050T; 17:63493934-63493934	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>A; p.F329L; 17:63481607-63481607	breast	carcinoma	Substitution - Missense
c.664G>T; p.D222Y; 17:63480345-63480345	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.996C>T; p.S332S; 17:63481616-63481616	skin	malignant_melanoma	Substitution - coding silent
c.2789C>T; p.S930F; 17:63491258-63491258	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1125G>T; p.K375N; 17:63482472-63482472	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2222A>G; p.N741S; 17:63486990-63486990	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.536C>T; p.S179L; 17:63479793-63479793	central_nervous_system; brain	glioma	Substitution - Missense
c.982G>A; p.E328K; 17:63481602-63481602	skin	malignant_melanoma	Substitution - Missense
c.2553C>T; p.N851N; 17:63489044-63489044	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1454delC; p.P485fs*40; 17:63483140-63483140	pancreas	NS	Deletion - Frameshift
c.1239C>A; p.N413K; 17:63482586-63482586	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1460G>A; p.R487H; 17:63483146-63483146	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1460G>A; p.R487H; 17:63483146-63483146	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1239C>A; p.N413K; 17:63482586-63482586	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.525C>A; p.I175I; 17:63479782-63479782	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.172G>T; p.E58*; 17:63477266-63477266	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.794G>A; p.R265Q; 17:63480475-63480475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2831C>T; p.S944L; 17:63491300-63491300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.615G>A; p.E205E; 17:63479872-63479872	skin	malignant_melanoma	Substitution - coding silent
c.3282-1G>A; p.?; 17:63494371-63494371	skin	malignant_melanoma	Unknown
c.3824G>C; p.G1275A; 17:63497269-63497269	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3590T>C; p.M1197T; 17:63496884-63496884	liver	carcinoma	Substitution - Missense
c.2250C>A; p.T750T; 17:63487018-63487018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3590T>C; p.M1197T; 17:63496884-63496884	liver	carcinoma	Substitution - Missense
c.2016G>A; p.W672*; 17:63485330-63485330	skin	malignant_melanoma	Substitution - Nonsense
c.815A>G; p.N272S; 17:63480496-63480496	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2009C>G; p.A670G; 17:63485323-63485323	central_nervous_system; brain	glioma	Substitution - Missense
c.1498C>T; p.Q500*; 17:63483470-63483470	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1424G>A; p.R475H; 17:63483110-63483110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1144A>T; p.M382L; 17:63482491-63482491	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2899G>A; p.G967S; 17:63491368-63491368	skin	malignant_melanoma	Substitution - Missense
c.2899G>A; p.G967S; 17:63491368-63491368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2128A>G; p.N710D; 17:63486626-63486626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3568C>T; p.P1190S; 17:63496862-63496862	skin	malignant_melanoma	Substitution - Missense
c.787C>T; p.H263Y; 17:63480468-63480468	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>A; p.G345G; 17:63481655-63481655	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2520G>A; p.R840R; 17:63489011-63489011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.774C>T; p.V258V; 17:63480455-63480455	skin	malignant_melanoma	Substitution - coding silent
c.778C>T; p.R260C; 17:63480459-63480459	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2654C>A; p.A885E; 17:63490966-63490966	thyroid	other; neoplasm	Substitution - Missense
c.750C>G; p.L250L; 17:63480431-63480431	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2767G>A; p.E923K; 17:63491236-63491236	skin	malignant_melanoma	Substitution - Missense
c.2499C>T; p.S833S; 17:63488990-63488990	skin	malignant_melanoma	Substitution - coding silent
c.2569C>T; p.R857C; 17:63489060-63489060	breast	carcinoma	Substitution - Missense
c.2499C>T; p.S833S; 17:63488990-63488990	skin	malignant_melanoma	Substitution - coding silent
c.1037C>G; p.S346W; 17:63481657-63481657	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2753G>A; p.R918K; 17:63491222-63491222	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.401T>C; p.L134P; 17:63478082-63478082	skin	malignant_melanoma	Substitution - Missense
c.2324C>T; p.A775V; 17:63488666-63488666	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2717C>A; p.T906N; 17:63491029-63491029	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1016C>T; p.P339L; 17:63481636-63481636	skin	malignant_melanoma	Substitution - Missense
c.1579T>A; p.Y527N; 17:63483551-63483551	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3125G>C; p.G1042A; 17:63493648-63493648	skin	malignant_melanoma	Substitution - Missense
c.2439C>T; p.A813A; 17:63488781-63488781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3870G>A; p.R1290R; 17:63497315-63497315	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3342G>A; p.G1114G; 17:63494432-63494432	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation