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	540
Symbol	ATP7B
Synonymous	PWD\|WC1\|WD\|WND
Full name	ATPase, Cu++ transporting, beta polypeptide
Gene description	ATPase, Cu(2+)- transporting, beta polypeptide\|Wilson disease-associated protein\|copper pump 2\|copper-transporting ATPase 2
Cytoband	13q14.3
Gene type	protein-coding
Synonymous	MIM:606882; HGNC:HGNC:870; Ensembl:ENSG00000123191; HPRD:06050; Vega:OTTHUMG00000017406

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1899G>C; p.Q633H; 13:51961884-51961884	breast	carcinoma	Substitution - Missense
c.340C>T; p.H114Y; 13:51974880-51974880	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.2174G>T; p.R725M; 13:51958492-51958492	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2652C>T; p.L884L; 13:51950085-51950085	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2652C>T; p.L884L; 13:51950085-51950085	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.919A>C; p.S307R; 13:51974301-51974301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1141A>G; p.I381V; 13:51974079-51974079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3907G>A; p.D1303N; 13:51937390-51937390	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1831G>A; p.E611K; 13:51964910-51964910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4305C>A; p.S1435S; 13:51934849-51934849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.998_999GG>AA; p.G333E; 13:51974221-51974222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2281G>T; p.V761L; 13:51958385-51958385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3274A>G; p.T1092A; 13:51942524-51942524	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.99G>A; p.M33I; 13:51975121-51975121	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1366G>C; p.V456L; 13:51970669-51970669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>C; p.V456L; 13:51970669-51970669	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.242C>T; p.S81F; 13:51974978-51974978	skin	malignant_melanoma	Substitution - Missense
c.4188G>A; p.T1396T; 13:51934966-51934966	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2304_2305insC; p.M769fs*26; 13:51958361-51958362	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4188G>A; p.T1396T; 13:51934966-51934966	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2097C>G; p.F699L; 13:51960172-51960172	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1043C>T; p.S348F; 13:51974177-51974177	skin	malignant_melanoma	Substitution - Missense
c.457A>C; p.T153P; 13:51974763-51974763	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4232G>A; p.R1411Q; 13:51934922-51934922	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3672G>T; p.R1224R; 13:51939078-51939078	liver	carcinoma	Substitution - coding silent
c.1286-1G>T; p.?; 13:51970750-51970750	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3672G>T; p.R1224R; 13:51939078-51939078	liver	carcinoma	Substitution - coding silent
c.3637G>A; p.G1213S; 13:51939113-51939113	skin	malignant_melanoma	Substitution - Missense
c.4187C>G; p.T1396R; 13:51934967-51934967	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3637G>A; p.G1213S; 13:51939113-51939113	ovary	carcinoma	Substitution - Missense
c.731A>T; p.N244I; 13:51974489-51974489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2200G>T; p.V734F; 13:51958466-51958466	breast	carcinoma	Substitution - Missense
c.2951C>T; p.P984L; 13:51946393-51946393	skin	malignant_melanoma	Substitution - Missense
c.2979G>A; p.T993T; 13:51946365-51946365	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3297C>T; p.G1099G; 13:51942501-51942501	skin	malignant_melanoma	Substitution - coding silent
c.4107A>T; p.S1369S; 13:51935610-51935610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1667_1668TG>AT; p.M556N; 13:51968483-51968484	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3307G>C; p.G1103R; 13:51942491-51942491	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1149A>T; p.Q383H; 13:51974071-51974071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>A; p.E818E; 13:51950393-51950393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4189G>A; p.A1397T; 13:51934965-51934965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.592A>G; p.R198G; 13:51974628-51974628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1883A>G; p.H628R; 13:51961900-51961900	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1710C>T; p.I570I; 13:51965031-51965031	skin	malignant_melanoma	Substitution - coding silent
c.3863C>G; p.T1288R; 13:51937516-51937516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3048G>T; p.E1016D; 13:51946296-51946296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2621C>T; p.A874V; 13:51950116-51950116	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.129C>G; p.G43G; 13:51975091-51975091	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.104delA; p.K35fs*33; 13:51975116-51975116	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1750T>C; p.S584P; 13:51964991-51964991	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1507G>T; p.V503L; 13:51970528-51970528	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1750T>C; p.S584P; 13:51964991-51964991	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.496C>T; p.R166W; 13:51974724-51974724	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1059G>A; p.Q353Q; 13:51974161-51974161	skin	malignant_melanoma	Substitution - coding silent
c.2258C>T; p.A753V; 13:51958408-51958408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>A; p.R166Q; 13:51974723-51974723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1789G>T; p.V597F; 13:51964952-51964952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2805G>A; p.T935T; 13:51949722-51949722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1248T>A; p.A416A; 13:51973972-51973972	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3411delA; p.D1138fs*10; 13:51942387-51942387	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3008C>T; p.A1003V; 13:51946336-51946336	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1577G>A; p.G526E; 13:51968574-51968574	skin	malignant_melanoma	Substitution - Missense
c.2755C>G; p.R919G; 13:51949772-51949772	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2435A>G; p.N812S; 13:51957528-51957528	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.259A>T; p.I87F; 13:51974961-51974961	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1727C>T; p.A576V; 13:51965014-51965014	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023C>A; p.S341S; 13:51974197-51974197	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.492G>T; p.K164N; 13:51974728-51974728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3417A>C; p.A1139A; 13:51941220-51941220	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.179G>A; p.S60N; 13:51975041-51975041	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1882C>T; p.H628Y; 13:51961901-51961901	skin; hand	malignant_melanoma	Substitution - Missense
c.1262G>A; p.G421E; 13:51973958-51973958	skin	malignant_melanoma	Substitution - Missense
c.4228T>G; p.W1410G; 13:51934926-51934926	breast	carcinoma	Substitution - Missense
c.2774T>C; p.V925A; 13:51949753-51949753	salivary_gland; submandibular	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2855G>A; p.R952K; 13:51949672-51949672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2855G>A; p.R952K; 13:51949672-51949672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2855G>A; p.R952K; 13:51949672-51949672	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1789G>A; p.V597I; 13:51964952-51964952	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2855G>A; p.R952K; 13:51949672-51949672	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4097T>C; p.V1366A; 13:51935620-51935620	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1216T>G; p.S406A; 13:51974004-51974004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3863C>T; p.T1288M; 13:51937516-51937516	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3555C>T; p.D1185D; 13:51941082-51941082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3589G>A; p.A1197T; 13:51939161-51939161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3743A>C; p.K1248T; 13:51937636-51937636	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.945C>T; p.I315I; 13:51974275-51974275	skin	malignant_melanoma	Substitution - coding silent
c.2465T>C; p.M822T; 13:51950382-51950382	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2509G>A; p.G837R; 13:51950338-51950338	skin	malignant_melanoma	Substitution - Missense
c.3965G>A; p.R1322H; 13:51937332-51937332	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3748G>T; p.A1250S; 13:51937631-51937631	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4187C>T; p.T1396M; 13:51934967-51934967	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.4187C>T; p.T1396M; 13:51934967-51934967	skin	malignant_melanoma	Substitution - Missense
c.1820A>C; p.K607T; 13:51964921-51964921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3419T>C; p.V1140A; 13:51941218-51941218	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.300G>A; p.V100V; 13:51974920-51974920	NS	NS	Substitution - coding silent
c.1108T>C; p.C370R; 13:51974112-51974112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1605G>T; p.E535D; 13:51968546-51968546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.851G>T; p.G284V; 13:51974369-51974369	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3556G>A; p.G1186S; 13:51941081-51941081	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3988A>C; p.I1330L; 13:51937309-51937309	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.459C>T; p.T153T; 13:51974761-51974761	skin	malignant_melanoma	Substitution - coding silent
c.488G>C; p.G163A; 13:51974732-51974732	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.916A>T; p.T306S; 13:51974304-51974304	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3450C>T; p.N1150N; 13:51941187-51941187	skin	malignant_melanoma	Substitution - coding silent
c.1174G>T; p.V392L; 13:51974046-51974046	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1740C>T; p.H580H; 13:51965001-51965001	ovary	other; neoplasm	Substitution - coding silent
c.946G>A; p.E316K; 13:51974274-51974274	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4240C>T; p.P1414S; 13:51934914-51934914	skin	malignant_melanoma	Substitution - Missense
c.4346G>A; p.G1449E; 13:51934808-51934808	skin	malignant_melanoma	Substitution - Missense
c.2835C>T; p.I945I; 13:51949692-51949692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2355+4A>G; p.?; 13:51958307-51958307	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1028C>T; p.S343F; 13:51974192-51974192	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1247C>T; p.A416V; 13:51973973-51973973	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3854G>A; p.G1285D; 13:51937525-51937525	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3556+1G>T; p.?; 13:51941080-51941080	lung	carcinoma; adenocarcinoma	Unknown
c.4072G>A; p.A1358T; 13:51935645-51935645	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4072G>A; p.A1358T; 13:51935645-51935645	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3325G>A; p.V1109M; 13:51942473-51942473	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2734C>T; p.P912S; 13:51949793-51949793	oesophagus	carcinoma	Substitution - Missense
c.1158G>T; p.G386G; 13:51974062-51974062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3671G>A; p.R1224Q; 13:51939079-51939079	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3671G>A; p.R1224Q; 13:51939079-51939079	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4384G>A; p.E1462K; 13:51934770-51934770	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2103C>A; p.I701I; 13:51960166-51960166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3919G>T; p.V1307L; 13:51937378-51937378	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.410C>A; p.S137Y; 13:51974810-51974810	thyroid	other; neoplasm	Substitution - Missense
c.4163C>T; p.A1388V; 13:51934991-51934991	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4274T>C; p.V1425A; 13:51934880-51934880	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3619C>G; p.H1207D; 13:51939131-51939131	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3467G>A; p.R1156H; 13:51941170-51941170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3467G>A; p.R1156H; 13:51941170-51941170	prostate	carcinoma	Substitution - Missense
c.1502C>T; p.S501F; 13:51970533-51970533	skin	malignant_melanoma	Substitution - Missense
c.1688A>G; p.D563G; 13:51968463-51968463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1852A>G; p.I618V; 13:51964889-51964889	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.123T>C; p.N41N; 13:51975097-51975097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3780G>C; p.K1260N; 13:51937599-51937599	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>T; p.R234I; 13:51974519-51974519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.701G>T; p.R234I; 13:51974519-51974519	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1185C>T; p.A395A; 13:51974035-51974035	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2864C>T; p.P955L; 13:51949663-51949663	skin	malignant_melanoma	Substitution - Missense
c.1839C>T; p.I613I; 13:51964902-51964902	skin	malignant_melanoma	Substitution - coding silent
c.4318C>T; p.R1440W; 13:51934836-51934836	breast	carcinoma	Substitution - Missense
c.1168A>T; p.I390L; 13:51974052-51974052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.936G>A; p.Q312Q; 13:51974284-51974284	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3840G>A; p.M1280I; 13:51937539-51937539	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1178C>A; p.S393Y; 13:51974042-51974042	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2298G>A; p.T766T; 13:51958368-51958368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2755C>A; p.R919R; 13:51949772-51949772	prostate	carcinoma	Substitution - coding silent
c.3884C>T; p.A1295V; 13:51937495-51937495	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1209T>C; p.Y403Y; 13:51974011-51974011	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1209T>C; p.Y403Y; 13:51974011-51974011	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.782T>C; p.L261P; 13:51974438-51974438	skin	malignant_melanoma	Substitution - Missense
c.3466C>T; p.R1156C; 13:51941171-51941171	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1963C>T; p.L655L; 13:51960306-51960306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1880T>G; p.F627C; 13:51961903-51961903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2495A>G; p.K832R; 13:51950352-51950352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2495A>G; p.K832R; 13:51950352-51950352	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.673G>A; p.E225K; 13:51974547-51974547	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3316G>A; p.V1106I; 13:51942482-51942482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2068C>T; p.P690S; 13:51960201-51960201	skin	malignant_melanoma	Substitution - Missense
c.1983C>T; p.G661G; 13:51960286-51960286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1829C>T; p.P610L; 13:51964912-51964912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1829C>T; p.P610L; 13:51964912-51964912	breast	carcinoma	Substitution - Missense
c.441C>T; p.L147L; 13:51974779-51974779	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4231C>T; p.R1411W; 13:51934923-51934923	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.749G>A; p.G250E; 13:51974471-51974471	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2324C>T; p.A775V; 13:51958342-51958342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4231C>T; p.R1411W; 13:51934923-51934923	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4231C>T; p.R1411W; 13:51934923-51934923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>T; p.V145F; 13:51974787-51974787	thyroid	carcinoma	Substitution - Missense
c.2954G>T; p.C985F; 13:51946390-51946390	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2188G>A; p.D730N; 13:51958478-51958478	skin; axilla	malignant_melanoma	Substitution - Missense
c.2325C>T; p.A775A; 13:51958341-51958341	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1658C>T; p.A553V; 13:51968493-51968493	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3356C>A; p.P1119H; 13:51942442-51942442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.L362L; 13:51974136-51974136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3117C>A; p.V1039V; 13:51944235-51944235	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3452G>A; p.R1151H; 13:51941185-51941185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3904-3C>T; p.?; 13:51937396-51937396	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.3009G>A; p.A1003A; 13:51946335-51946335	breast	carcinoma	Substitution - coding silent
c.3009G>A; p.A1003A; 13:51946335-51946335	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3093C>A; p.T1031T; 13:51944259-51944259	breast	carcinoma	Substitution - coding silent
c.1050G>A; p.P350P; 13:51974170-51974170	breast	carcinoma	Substitution - coding silent
c.3532A>G; p.T1178A; 13:51941105-51941105	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3042C>T; p.P1014P; 13:51946302-51946302	skin	malignant_melanoma	Substitution - coding silent
c.3275C>T; p.T1092M; 13:51942523-51942523	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3186T>A; p.T1062T; 13:51944166-51944166	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2198T>G; p.I733S; 13:51958468-51958468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.122A>G; p.N41S; 13:51975098-51975098	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.676C>T; p.R226W; 13:51974544-51974544	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.676C>T; p.R226W; 13:51974544-51974544	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1253A>C; p.E418A; 13:51973967-51973967	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.657G>C; p.L219L; 13:51974563-51974563	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2743C>T; p.Q915*; 13:51949784-51949784	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2263A>G; p.K755E; 13:51958403-51958403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2519C>T; p.P840L; 13:51950328-51950328	skin	malignant_melanoma	Substitution - Missense
c.2983G>C; p.V995L; 13:51946361-51946361	skin; trunk	malignant_melanoma	Substitution - Missense
c.847C>T; p.L283L; 13:51974373-51974373	skin	malignant_melanoma	Substitution - coding silent
c.772A>G; p.T258A; 13:51974448-51974448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2881A>G; p.I961V; 13:51946463-51946463	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3671G>T; p.R1224L; 13:51939079-51939079	liver	carcinoma	Substitution - Missense
c.3671G>T; p.R1224L; 13:51939079-51939079	liver	carcinoma	Substitution - Missense
c.1847G>A; p.R616Q; 13:51964894-51964894	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.480C>T; p.S160S; 13:51974740-51974740	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2752G>A; p.D918N; 13:51949775-51949775	breast	carcinoma	Substitution - Missense
c.3577G>A; p.A1193T; 13:51939173-51939173	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.4307A>G; p.D1436G; 13:51934847-51934847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.410C>T; p.S137F; 13:51974810-51974810	skin	malignant_melanoma	Substitution - Missense
c.2459T>C; p.V820A; 13:51950388-51950388	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.488G>A; p.G163D; 13:51974732-51974732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2388G>T; p.M796I; 13:51957575-51957575	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3517G>A; p.E1173K; 13:51941120-51941120	skin	malignant_melanoma	Substitution - Missense
c.3502G>A; p.A1168T; 13:51941135-51941135	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3502G>A; p.A1168T; 13:51941135-51941135	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1921T>C; p.L641L; 13:51961862-51961862	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.243C>T; p.S81S; 13:51974977-51974977	skin	malignant_melanoma	Substitution - coding silent
c.1686C>T; p.S562S; 13:51968465-51968465	skin	malignant_melanoma	Substitution - coding silent
c.2863C>T; p.P955S; 13:51949664-51949664	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1028C>A; p.S343Y; 13:51974192-51974192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>T; p.G120C; 13:51974862-51974862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1554C>A; p.S518S; 13:51968597-51968597	skin	malignant_melanoma	Substitution - coding silent
c.3616G>A; p.V1206M; 13:51939134-51939134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2620G>A; p.A874T; 13:51950117-51950117	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1555_1566del12; p.V519_A522delVLVA; 13:51968585-51968596	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.606T>C; p.N202N; 13:51974614-51974614	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1870-8A>G; p.?; 13:51961921-51961921	liver	carcinoma	Unknown
c.1870-8A>G; p.?; 13:51961921-51961921	liver	carcinoma	Unknown
c.3451C>T; p.R1151C; 13:51941186-51941186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2735C>T; p.P912L; 13:51949792-51949792	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3451C>T; p.R1151C; 13:51941186-51941186	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1491G>A; p.M497I; 13:51970544-51970544	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3786C>T; p.V1262V; 13:51937593-51937593	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2575G>T; p.G859*; 13:51950272-51950272	pancreas	carcinoma	Substitution - Nonsense
c.3489C>T; p.S1163S; 13:51941148-51941148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2575G>T; p.G859*; 13:51950272-51950272	pancreas	carcinoma	Substitution - Nonsense
c.3282C>T; p.F1094F; 13:51942516-51942516	skin	malignant_melanoma	Substitution - coding silent
c.79C>T; p.R27C; 13:51975141-51975141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1430A>T; p.K477M; 13:51970605-51970605	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.79C>T; p.R27C; 13:51975141-51975141	skin	malignant_melanoma	Substitution - Missense
c.1430A>T; p.K477M; 13:51970605-51970605	urinary_tract; bladder	carcinoma	Substitution - Missense
c.78C>T; p.T26T; 13:51975142-51975142	skin	malignant_melanoma	Substitution - coding silent
c.80G>A; p.R27H; 13:51975140-51975140	meninges	meningioma	Substitution - Missense
c.2442C>T; p.I814I; 13:51957521-51957521	skin	malignant_melanoma	Substitution - coding silent
c.3669C>T; p.N1223N; 13:51939081-51939081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.596A>G; p.D199G; 13:51974624-51974624	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4227G>T; p.R1409S; 13:51934927-51934927	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1200A>G; p.T400T; 13:51974020-51974020	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2037C>T; p.H679H; 13:51960232-51960232	skin	malignant_melanoma	Substitution - coding silent
c.52-7T>G; p.?; 13:51975175-51975175	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3024C>T; p.L1008L; 13:51946320-51946320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1234G>A; p.E412K; 13:51973986-51973986	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3663G>T; p.G1221G; 13:51939087-51939087	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3317T>C; p.V1106A; 13:51942481-51942481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3816C>T; p.S1272S; 13:51937563-51937563	skin	malignant_melanoma	Substitution - coding silent
c.4213G>A; p.G1405S; 13:51934941-51934941	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3816C>T; p.S1272S; 13:51937563-51937563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2970C>T; p.A990A; 13:51946374-51946374	skin	malignant_melanoma	Substitution - coding silent
c.2833A>G; p.I945V; 13:51949694-51949694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3016G>A; p.G1006S; 13:51946328-51946328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2395C>A; p.Q799K; 13:51957568-51957568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1213C>T; p.P405S; 13:51974007-51974007	skin	malignant_melanoma	Substitution - Missense
c.1620C>T; p.L540L; 13:51968531-51968531	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1620C>T; p.L540L; 13:51968531-51968531	skin	malignant_melanoma	Substitution - coding silent
c.3864G>A; p.T1288T; 13:51937515-51937515	breast	carcinoma	Substitution - coding silent
c.1738C>T; p.H580Y; 13:51965003-51965003	skin	malignant_melanoma	Substitution - Missense
c.2511A>G; p.G837G; 13:51950336-51950336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545T>C; p.G515G; 13:51968606-51968606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2784C>T; p.I928I; 13:51949743-51949743	skin	malignant_melanoma	Substitution - coding silent
c.99G>T; p.M33I; 13:51975121-51975121	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2538G>A; p.L846L; 13:51950309-51950309	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.189G>A; p.R63R; 13:51975031-51975031	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3605C>A; p.A1202D; 13:51939145-51939145	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1392G>A; p.G464G; 13:51970643-51970643	breast	carcinoma	Substitution - coding silent
c.3956G>A; p.R1319Q; 13:51937341-51937341	skin	malignant_melanoma	Substitution - Missense
c.3955C>T; p.R1319*; 13:51937342-51937342	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.2380A>C; p.K794Q; 13:51957583-51957583	skin	malignant_melanoma	Substitution - Missense
c.1288A>C; p.S430R; 13:51970747-51970747	skin	malignant_melanoma	Substitution - Missense
c.3717C>A; p.V1239V; 13:51937662-51937662	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4231C>A; p.R1411R; 13:51934923-51934923	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3520A>T; p.M1174L; 13:51941117-51941117	breast	carcinoma	Substitution - Missense
c.4021G>A; p.G1341S; 13:51937276-51937276	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2092A>G; p.I698V; 13:51960177-51960177	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.363C>T; p.F121F; 13:51974857-51974857	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2029G>A; p.E677K; 13:51960240-51960240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.363C>T; p.F121F; 13:51974857-51974857	skin	malignant_melanoma	Substitution - coding silent
c.363C>T; p.F121F; 13:51974857-51974857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1621G>A; p.E541K; 13:51968530-51968530	skin	malignant_melanoma	Substitution - Missense
c.3079G>C; p.D1027H; 13:51944273-51944273	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1621G>A; p.E541K; 13:51968530-51968530	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.2479C>T; p.R827W; 13:51950368-51950368	stomach	adenocarcinoma	Substitution - Missense
c.3188C>T; p.A1063V; 13:51944164-51944164	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2479C>T; p.R827W; 13:51950368-51950368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3325G>T; p.V1109L; 13:51942473-51942473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3188C>T; p.A1063V; 13:51944164-51944164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1186G>A; p.E396K; 13:51974034-51974034	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4082C>T; p.A1361V; 13:51935635-51935635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470C>G; p.C490W; 13:51970565-51970565	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3481A>G; p.I1161V; 13:51941156-51941156	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3675G>A; p.K1225K; 13:51939075-51939075	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1544G>A; p.G515D; 13:51968607-51968607	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1544G>A; p.G515D; 13:51968607-51968607	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1738C>A; p.H580N; 13:51965003-51965003	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1544G>A; p.G515D; 13:51968607-51968607	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation