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	29028
Symbol	ATAD2
Synonymous	ANCCA\|CT137\|PRO2000
Full name	ATPase family, AAA domain containing 2
Gene description	AAA nuclear coregulator cancer-associated protein\|ATPase family AAA domain-containing protein 2
Cytoband	8q24.13
Gene type	protein-coding
Synonymous	MIM:611941; HGNC:HGNC:30123; Ensembl:ENSG00000156802; HPRD:10678; Vega:OTTHUMG00000165090

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2540G>A; p.R847H; 8:123345062-123345062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2189G>A; p.R730K; 8:123347115-123347115	breast	carcinoma	Substitution - Missense
c.4090_4091insT; p.Y1364fs*8; 8:123322978-123322979	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1047C>G; p.N349K; 8:123369060-123369060	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2976C>A; p.F992L; 8:123337700-123337700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3621C>A; p.D1207E; 8:123328437-123328437	prostate	carcinoma	Substitution - Missense
c.1590delT; p.F530fs*27; 8:123356445-123356445	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1590delT; p.F530fs*27; 8:123356445-123356445	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1590delT; p.F530fs*27; 8:123356445-123356445	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.640-3delT; p.?; 8:123370993-123370993	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2213-15_2214del17; p.?; 8:123346749-123346765	liver	carcinoma	Unknown
c.2494G>T; p.G832*; 8:123346124-123346124	skin	malignant_melanoma	Substitution - Nonsense
c.2494G>T; p.G832*; 8:123346124-123346124	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.429A>G; p.E143E; 8:123371777-123371777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1334C>T; p.P445L; 8:123359269-123359269	skin	malignant_melanoma	Substitution - Missense
c.1552G>C; p.D518H; 8:123357567-123357567	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1982C>G; p.T661S; 8:123347322-123347322	central_nervous_system; brain	glioma	Substitution - Missense
c.816T>C; p.D272D; 8:123369936-123369936	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2725G>T; p.E909*; 8:123339440-123339440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.816T>C; p.D272D; 8:123369936-123369936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1423_1424delCT; p.L475fs*8; 8:123357695-123357696	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2206G>C; p.D736H; 8:123347098-123347098	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1700A>G; p.E567G; 8:123349391-123349391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.L978L; 8:123337744-123337744	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1345C>T; p.P449S; 8:123359258-123359258	skin	malignant_melanoma	Substitution - Missense
c.2070C>T; p.S690S; 8:123347234-123347234	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1857A>G; p.P619P; 8:123348223-123348223	breast	carcinoma	Substitution - coding silent
c.2538T>C; p.I846I; 8:123345064-123345064	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3331A>C; p.R1111R; 8:123334203-123334203	prostate	carcinoma	Substitution - coding silent
c.117C>G; p.L39L; 8:123396241-123396241	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.227C>T; p.S76F; 8:123380622-123380622	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4172G>A; p.1391; 8:123321135-123321135	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.770G>A; p.G257D; 8:123369982-123369982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1186G>T; p.E396*; 8:123359657-123359657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.553C>G; p.L185V; 8:123371322-123371322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.E203K; 8:123371268-123371268	breast	carcinoma	Substitution - Missense
c.1957C>T; p.R653*; 8:123347347-123347347	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.1666C>T; p.L556L; 8:123349425-123349425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1957C>T; p.R653*; 8:123347347-123347347	stomach	adenocarcinoma	Substitution - Nonsense
c.2345+10T>A; p.?; 8:123346608-123346608	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.467G>A; p.R156Q; 8:123371739-123371739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>A; p.R156Q; 8:123371739-123371739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.467G>A; p.R156Q; 8:123371739-123371739	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>A; p.R156Q; 8:123371739-123371739	breast	carcinoma	Substitution - Missense
c.467G>A; p.R156Q; 8:123371739-123371739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1722G>A; p.T574T; 8:123349369-123349369	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.464G>A; p.R155H; 8:123371742-123371742	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3918G>A; p.Q1306Q; 8:123325977-123325977	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1540C>T; p.R514*; 8:123357579-123357579	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.607G>C; p.E203Q; 8:123371268-123371268	urinary_tract; bladder	carcinoma	Substitution - Missense
c.217G>C; p.A73P; 8:123380632-123380632	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2459T>G; p.F820C; 8:123346159-123346159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1336T>C; p.L446L; 8:123359267-123359267	bone; pelvis	chondrosarcoma	Substitution - coding silent
c.592C>T; p.R198*; 8:123371283-123371283	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.592C>T; p.R198*; 8:123371283-123371283	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2764C>A; p.Q922K; 8:123339401-123339401	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4003-1G>A; p.?; 8:123323067-123323067	skin	malignant_melanoma	Unknown
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	liver	carcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.354delA; p.E119fs*8; 8:123372653-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2435C>A; p.A812D; 8:123346183-123346183	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2375G>A; p.R792Q; 8:123346243-123346243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2375G>A; p.R792Q; 8:123346243-123346243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3245G>C; p.R1082T; 8:123334289-123334289	breast	carcinoma	Substitution - Missense
c.813T>C; p.D271D; 8:123369939-123369939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266+3G>A; p.?; 8:123359574-123359574	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1210C>T; p.R404*; 8:123359633-123359633	skin	malignant_melanoma	Substitution - Nonsense
c.2527G>A; p.A843T; 8:123346091-123346091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1646+6A>T; p.?; 8:123356383-123356383	ovary	other; neoplasm	Unknown
c.1210C>T; p.R404*; 8:123359633-123359633	skin	malignant_melanoma	Substitution - Nonsense
c.1646+6A>T; p.?; 8:123356383-123356383	ovary	other; neoplasm	Unknown
c.1210C>T; p.R404*; 8:123359633-123359633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1658C>T; p.S553F; 8:123349433-123349433	thyroid	carcinoma	Substitution - Missense
c.1573C>T; p.P525S; 8:123356462-123356462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3134C>T; p.T1045I; 8:123336450-123336450	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3134C>T; p.T1045I; 8:123336450-123336450	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2773G>C; p.D925H; 8:123339392-123339392	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4024A>T; p.K1342*; 8:123323045-123323045	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2897_2898ins32; p.E966fs*3; 8:123337778-123337779	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Insertion - Frameshift
c.1649C>A; p.S550Y; 8:123349442-123349442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.382C>T; p.P128S; 8:123371824-123371824	skin	malignant_melanoma	Substitution - Missense
c.419A>C; p.Q140P; 8:123371787-123371787	oesophagus	carcinoma	Substitution - Missense
c.3031A>T; p.K1011*; 8:123337645-123337645	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4130A>G; p.Q1377R; 8:123322939-123322939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2411G>T; p.G804V; 8:123346207-123346207	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1361A>C; p.K454T; 8:123359242-123359242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2546C>G; p.A849G; 8:123345056-123345056	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3359C>T; p.P1120L; 8:123333997-123333997	skin	malignant_melanoma	Substitution - Missense
c.125C>T; p.A42V; 8:123396233-123396233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.122C>T; p.S41L; 8:123396236-123396236	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1318G>C; p.E440Q; 8:123359285-123359285	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1958G>C; p.R653P; 8:123347346-123347346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3160G>C; p.D1054H; 8:123336424-123336424	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2204T>A; p.L735*; 8:123347100-123347100	skin	malignant_melanoma	Substitution - Nonsense
c.2833C>G; p.P945A; 8:123339332-123339332	breast	carcinoma	Substitution - Missense
c.3823T>C; p.S1275P; 8:123328235-123328235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3823T>C; p.S1275P; 8:123328235-123328235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.709A>T; p.N237Y; 8:123370921-123370921	ovary	other; neoplasm	Substitution - Missense
c.3081A>G; p.Q1027Q; 8:123336503-123336503	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.834A>T; p.E278D; 8:123369918-123369918	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1783C>A; p.L595I; 8:123349308-123349308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.392G>A; p.R131Q; 8:123371814-123371814	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2689G>C; p.D897H; 8:123344913-123344913	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1590_1591insT; p.D531fs*1; 8:123356444-123356445	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2381G>A; p.R794K; 8:123346237-123346237	skin	malignant_melanoma	Substitution - Missense
c.3271G>T; p.E1091*; 8:123334263-123334263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2597G>T; p.W866L; 8:123345005-123345005	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.638_639+1delAAG; p.?; 8:123371235-123371237	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3215G>A; p.R1072H; 8:123334319-123334319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.798T>A; p.D266E; 8:123369954-123369954	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2098G>A; p.A700T; 8:123347206-123347206	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3792G>C; p.L1264F; 8:123328266-123328266	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1777G>T; p.E593*; 8:123349314-123349314	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2017A>C; p.N673H; 8:123347287-123347287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.280G>A; p.E94K; 8:123380569-123380569	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.831_833delTGA; p.D277delD; 8:123369919-123369921	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.3869-1G>C; p.?; 8:123326027-123326027	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2626A>T; p.T876S; 8:123344976-123344976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2626A>T; p.T876S; 8:123344976-123344976	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.104G>A; p.G35D; 8:123396254-123396254	liver	carcinoma	Substitution - Missense
c.1753C>T; p.R585*; 8:123349338-123349338	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.637G>T; p.E213*; 8:123371238-123371238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.104G>A; p.G35D; 8:123396254-123396254	liver	carcinoma	Substitution - Missense
c.3551C>T; p.S1184L; 8:123328507-123328507	skin	malignant_melanoma	Substitution - Missense
c.4023T>A; p.V1341V; 8:123323046-123323046	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3578C>T; p.A1193V; 8:123328480-123328480	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2993A>G; p.H998R; 8:123337683-123337683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2225C>T; p.P742L; 8:123346738-123346738	skin	malignant_melanoma	Substitution - Missense
c.1269A>G; p.V423V; 8:123359334-123359334	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2389A>G; p.I797V; 8:123346229-123346229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2389A>G; p.I797V; 8:123346229-123346229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1366A>G; p.K456E; 8:123359237-123359237	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2969G>A; p.R990K; 8:123337707-123337707	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1961G>A; p.R654H; 8:123347343-123347343	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.941A>G; p.H314R; 8:123369166-123369166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3536delA; p.K1179fs*16; 8:123328522-123328522	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.3823T>A; p.S1275T; 8:123328235-123328235	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3823T>A; p.S1275T; 8:123328235-123328235	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3360G>A; p.P1120P; 8:123333996-123333996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3931A>G; p.T1311A; 8:123325964-123325964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3906C>T; p.S1302S; 8:123325989-123325989	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2138T>C; p.V713A; 8:123347166-123347166	liver	carcinoma	Substitution - Missense
c.3696C>T; p.A1232A; 8:123328362-123328362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2138T>C; p.V713A; 8:123347166-123347166	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4099C>T; p.R1367C; 8:123322970-123322970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4099C>T; p.R1367C; 8:123322970-123322970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.67G>T; p.D23Y; 8:123396291-123396291	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3937G>C; p.E1313Q; 8:123325958-123325958	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.843A>T; p.E281D; 8:123369909-123369909	liver	carcinoma	Substitution - Missense
c.1839G>A; p.R613R; 8:123348241-123348241	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.843A>T; p.E281D; 8:123369909-123369909	liver	carcinoma	Substitution - Missense
c.3019C>T; p.R1007*; 8:123337657-123337657	skin	malignant_melanoma	Substitution - Nonsense
c.4082A>G; p.Q1361R; 8:123322987-123322987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.789A>T; p.E263D; 8:123369963-123369963	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.537-5delT; p.?; 8:123371343-123371343	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2655T>A; p.P885P; 8:123344947-123344947	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.584G>T; p.R195L; 8:123371291-123371291	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2219C>A; p.S740Y; 8:123346744-123346744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3449C>T; p.P1150L; 8:123333907-123333907	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3647G>A; p.G1216E; 8:123328411-123328411	skin	malignant_melanoma	Substitution - Missense
c.1027C>T; p.P343S; 8:123369080-123369080	skin	malignant_melanoma	Substitution - Missense
c.1177C>T; p.R393W; 8:123359666-123359666	pancreas	carcinoma	Substitution - Missense
c.810T>C; p.D270D; 8:123369942-123369942	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1124G>A; p.R375Q; 8:123361572-123361572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.810T>C; p.D270D; 8:123369942-123369942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1177C>T; p.R393W; 8:123359666-123359666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1651A>G; p.I551V; 8:123349440-123349440	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3322A>G; p.R1108G; 8:123334212-123334212	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.3543G>T; p.R1181S; 8:123328515-123328515	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2323T>G; p.F775V; 8:123346640-123346640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1186G>A; p.E396K; 8:123359657-123359657	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2433A>G; p.P811P; 8:123346185-123346185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.333A>G; p.R111R; 8:123372674-123372674	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1178G>A; p.R393Q; 8:123359665-123359665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.460G>T; p.V154L; 8:123371746-123371746	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3909G>T; p.Q1303H; 8:123325986-123325986	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3909G>T; p.Q1303H; 8:123325986-123325986	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3909G>T; p.Q1303H; 8:123325986-123325986	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.585T>C; p.R195R; 8:123371290-123371290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1816G>C; p.E606Q; 8:123348264-123348264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1721C>T; p.T574M; 8:123349370-123349370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2690A>G; p.D897G; 8:123344912-123344912	skin	malignant_melanoma	Substitution - Missense
c.1721C>T; p.T574M; 8:123349370-123349370	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1366A>T; p.K456*; 8:123359237-123359237	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3196G>T; p.D1066Y; 8:123336388-123336388	breast	carcinoma	Substitution - Missense
c.1688A>G; p.D563G; 8:123349403-123349403	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3406G>A; p.D1136N; 8:123333950-123333950	urinary_tract; bladder	carcinoma	Substitution - Missense
c.933A>G; p.K311K; 8:123369174-123369174	breast	carcinoma	Substitution - coding silent
c.2613G>A; p.P871P; 8:123344989-123344989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.298G>C; p.A100P; 8:123380551-123380551	ovary	other; neoplasm	Substitution - Missense
c.3586C>A; p.H1196N; 8:123328472-123328472	fallopian_tube	carcinoma; serous_carcinoma	Substitution - Missense
c.1810C>T; p.R604*; 8:123348270-123348270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.624T>C; p.F208F; 8:123371251-123371251	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1804G>C; p.E602Q; 8:123349287-123349287	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1692C>T; p.S564S; 8:123349399-123349399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.931A>C; p.K311Q; 8:123369821-123369821	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1243G>C; p.D415H; 8:123359600-123359600	breast	carcinoma	Substitution - Missense
c.4111G>T; p.D1371Y; 8:123322958-123322958	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1297A>G; p.N433D; 8:123359306-123359306	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3478+8C>T; p.?; 8:123333870-123333870	liver	carcinoma	Unknown
c.3478+8C>T; p.?; 8:123333870-123333870	liver	carcinoma	Unknown
c.3478+8C>T; p.?; 8:123333870-123333870	liver	carcinoma	Unknown
c.1499_1500insA; p.D500fs*5; 8:123357619-123357620	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.488G>A; p.R163H; 8:123371718-123371718	pancreas	carcinoma	Substitution - Missense
c.825T>A; p.D275E; 8:123369927-123369927	urinary_tract; bladder	carcinoma	Substitution - Missense
c.825T>A; p.D275E; 8:123369927-123369927	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2481T>G; p.I827M; 8:123346137-123346137	breast	carcinoma	Substitution - Missense
c.825T>A; p.D275E; 8:123369927-123369927	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.825T>A; p.D275E; 8:123369927-123369927	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2764_2765insT; p.Q922fs*5; 8:123339400-123339401	breast	carcinoma	Insertion - Frameshift
c.3040G>C; p.D1014H; 8:123337636-123337636	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1572C>T; p.R524R; 8:123356463-123356463	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2388G>A; p.L796L; 8:123346230-123346230	breast	carcinoma	Substitution - coding silent
c.2812C>A; p.L938I; 8:123339353-123339353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1738A>G; p.I580V; 8:123349353-123349353	thyroid	carcinoma	Substitution - Missense
c.2812C>A; p.L938I; 8:123339353-123339353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1525T>A; p.S509T; 8:123357594-123357594	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3920A>C; p.Q1307P; 8:123325975-123325975	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2832T>G; p.P944P; 8:123339333-123339333	breast	carcinoma	Substitution - coding silent
c.814G>C; p.D272H; 8:123369938-123369938	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3044C>G; p.P1015R; 8:123337632-123337632	skin	malignant_melanoma	Substitution - Missense
c.2792A>G; p.K931R; 8:123339373-123339373	central_nervous_system; brain	glioma	Substitution - Missense
c.3658G>T; p.E1220*; 8:123328400-123328400	skin	malignant_melanoma	Substitution - Nonsense
c.354_355insA; p.E119fs*18; 8:123372652-123372653	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.354_355insA; p.E119fs*18; 8:123372652-123372653	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2332C>T; p.L778F; 8:123346631-123346631	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3007G>C; p.D1003H; 8:123337669-123337669	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2770C>T; p.P924S; 8:123339395-123339395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2536A>G; p.I846V; 8:123345066-123345066	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3854A>T; p.E1285V; 8:123328204-123328204	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3040G>A; p.D1014N; 8:123337636-123337636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>T; p.R155C; 8:123371743-123371743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>T; p.R155C; 8:123371743-123371743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.375A>T; p.K125N; 8:123371831-123371831	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3808T>C; p.C1270R; 8:123328250-123328250	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2930G>A; p.R977Q; 8:123337746-123337746	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.375A>T; p.K125N; 8:123371831-123371831	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3768G>A; p.R1256R; 8:123328290-123328290	breast	carcinoma	Substitution - coding silent
c.3072A>T; p.V1024V; 8:123336512-123336512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1744C>A; p.P582T; 8:123349347-123349347	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.14G>T; p.R5L; 8:123396344-123396344	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2657C>A; p.S886*; 8:123344945-123344945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3965C>A; p.P1322H; 8:123325930-123325930	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2518G>A; p.E840K; 8:123346100-123346100	skin; trunk	malignant_melanoma	Substitution - Missense
c.3357C>T; p.A1119A; 8:123333999-123333999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3014G>A; p.R1005Q; 8:123337662-123337662	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2981G>T; p.R994I; 8:123337695-123337695	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.496G>T; p.G166C; 8:123371710-123371710	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.798T>C; p.D266D; 8:123369954-123369954	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2754T>G; p.I918M; 8:123339411-123339411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1099G>T; p.E367*; 8:123361597-123361597	breast	carcinoma	Substitution - Nonsense
c.1160G>A; p.C387Y; 8:123359683-123359683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2610A>G; p.G870G; 8:123344992-123344992	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.516G>T; p.L172L; 8:123371690-123371690	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.50C>A; p.S17*; 8:123396308-123396308	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1618C>T; p.R540W; 8:123356417-123356417	central_nervous_system; brain	glioma	Substitution - Missense
c.42C>T; p.S14S; 8:123396316-123396316	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1138C>T; p.R380C; 8:123361558-123361558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1171A>C; p.N391H; 8:123359672-123359672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2528C>T; p.A843V; 8:123346090-123346090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>A; p.V139I; 8:123371791-123371791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.109A>C; p.R37R; 8:123396249-123396249	skin	malignant_melanoma	Substitution - coding silent
c.392G>T; p.R131L; 8:123371814-123371814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1752A>G; p.L584L; 8:123349339-123349339	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2849A>G; p.K950R; 8:123339316-123339316	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.403G>A; p.A135T; 8:123371803-123371803	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.52G>T; p.A18S; 8:123396306-123396306	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.792T>A; p.D264E; 8:123369960-123369960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.294A>T; p.Q98H; 8:123380555-123380555	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.853G>A; p.D285N; 8:123369899-123369899	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.414C>T; p.I138I; 8:123371792-123371792	skin	malignant_melanoma	Substitution - coding silent
c.4132-2A>G; p.?; 8:123321177-123321177	lung	carcinoma; small_cell_carcinoma	Unknown
c.1741G>C; p.D581H; 8:123349350-123349350	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1779A>G; p.E593E; 8:123349312-123349312	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.736G>A; p.E246K; 8:123370016-123370016	urinary_tract; bladder	carcinoma	Substitution - Missense
c.40T>C; p.S14P; 8:123396318-123396318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2587C>A; p.H863N; 8:123345015-123345015	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2037C>T; p.F679F; 8:123347267-123347267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2587C>A; p.H863N; 8:123345015-123345015	liver	carcinoma	Substitution - Missense
c.2587C>A; p.H863N; 8:123345015-123345015	liver	carcinoma	Substitution - Missense
c.2037C>T; p.F679F; 8:123347267-123347267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2642_2643delTA; p.L881fs*16; 8:123344959-123344960	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2827A>G; p.K943E; 8:123339338-123339338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.789_797delAGATGATGA; p.E263_D265delEDD; 8:123369955-123369963	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.3184G>T; p.E1062*; 8:123336400-123336400	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.943C>T; p.Q315*; 8:123369164-123369164	lung	carcinoma; adenocarcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation