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	160728
Symbol	SLC5A8
Synonymous	AIT\|SMCT\|SMCT1
Full name	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
Gene description	apical iodide transporter\|electrogenic sodium monocarboxylate cotransporter\|sodium iodide-related cotransporter\|sodium-coupled monocarboxylate transporter 1\|solute carrier family 5 (iodide transporter), member 8\|solute carrier family 5 member 8
Cytoband	12q23.1
Gene type	protein-coding
Synonymous	MIM:608044; HGNC:HGNC:19119; HPRD:10475

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.173C>T; p.A58V; 12:101209676-101209676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1304C>T; p.P435L; 12:101168112-101168112	skin	malignant_melanoma	Substitution - Missense
c.348C>T; p.Y116Y; 12:101209501-101209501	pancreas	carcinoma	Substitution - coding silent
c.840C>G; p.L280L; 12:101187509-101187509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.314C>A; p.P105Q; 12:101209535-101209535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.A165T; 12:101195139-101195139	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1525A>C; p.R509R; 12:101166495-101166495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1449C>A; p.T483T; 12:101166571-101166571	pancreas	carcinoma	Substitution - coding silent
c.1449C>A; p.T483T; 12:101166571-101166571	pancreas	carcinoma	Substitution - coding silent
c.919G>T; p.D307Y; 12:101187430-101187430	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.902T>A; p.L301Q; 12:101187447-101187447	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1360C>A; p.L454I; 12:101166660-101166660	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>A; p.A429T; 12:101168131-101168131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>C; p.D333H; 12:101184189-101184189	breast	carcinoma	Substitution - Missense
c.229G>A; p.E77K; 12:101209620-101209620	skin	malignant_melanoma	Substitution - Missense
c.1012C>T; p.P338S; 12:101184174-101184174	skin	malignant_melanoma	Substitution - Missense
c.1220G>A; p.G407E; 12:101180042-101180042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.752T>C; p.F251S; 12:101190549-101190549	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1321-1G>T; p.?; 12:101166700-101166700	lung	carcinoma; adenocarcinoma	Unknown
c.1050A>G; p.L350L; 12:101184136-101184136	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1627A>T; p.T543S; 12:101161977-101161977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1416A>T; p.P472P; 12:101166604-101166604	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1416A>T; p.P472P; 12:101166604-101166604	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1559C>T; p.S520L; 12:101162045-101162045	skin	malignant_melanoma	Substitution - Missense
c.925G>A; p.D309N; 12:101187424-101187424	skin	malignant_melanoma	Substitution - Missense
c.925G>A; p.D309N; 12:101187424-101187424	skin	malignant_melanoma	Substitution - Missense
c.1681T>G; p.F561V; 12:101158278-101158278	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1527-10G>C; p.?; 12:101162087-101162087	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.897C>T; p.L299L; 12:101187452-101187452	skin	malignant_melanoma	Substitution - coding silent
c.897C>T; p.L299L; 12:101187452-101187452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.897C>T; p.L299L; 12:101187452-101187452	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1085C>T; p.A362V; 12:101182883-101182883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781C>T; p.Q261*; 12:101190520-101190520	NS	malignant_melanoma	Substitution - Nonsense
c.781C>T; p.Q261*; 12:101190520-101190520	NS	malignant_melanoma	Substitution - Nonsense
c.1399C>T; p.P467S; 12:101166621-101166621	skin	malignant_melanoma	Substitution - Missense
c.1399C>T; p.P467S; 12:101166621-101166621	skin	malignant_melanoma	Substitution - Missense
c.225C>A; p.P75P; 12:101209624-101209624	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.94T>G; p.Y32D; 12:101209755-101209755	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1166-3T>C; p.?; 12:101180099-101180099	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1493C>G; p.T498S; 12:101166527-101166527	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.615A>G; p.I205M; 12:101193702-101193702	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.388T>C; p.C130R; 12:101204529-101204529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1675G>T; p.E559*; 12:101158284-101158284	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1675G>T; p.E559*; 12:101158284-101158284	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1708A>G; p.K570E; 12:101158251-101158251	stomach	adenocarcinoma	Substitution - Missense
c.506C>T; p.T169M; 12:101195126-101195126	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1057G>A; p.V353M; 12:101182911-101182911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506C>T; p.T169M; 12:101195126-101195126	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1098A>C; p.E366D; 12:101182870-101182870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1819G>A; p.G607R; 12:101157293-101157293	skin	malignant_melanoma	Substitution - Missense
c.695T>G; p.F232C; 12:101190606-101190606	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.299C>T; p.A100V; 12:101209550-101209550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>A; p.C396S; 12:101180076-101180076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1539G>C; p.M513I; 12:101162065-101162065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1422C>A; p.H474Q; 12:101166598-101166598	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.908C>A; p.S303Y; 12:101187441-101187441	skin	malignant_melanoma	Substitution - Missense
c.1160G>A; p.G387E; 12:101182808-101182808	skin	malignant_melanoma	Substitution - Missense
c.1160G>A; p.G387E; 12:101182808-101182808	skin; mucosal	malignant_melanoma	Substitution - Missense
c.898G>A; p.A300T; 12:101187451-101187451	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.138G>A; p.L46L; 12:101209711-101209711	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1067G>A; p.S356N; 12:101182901-101182901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.661G>A; p.A221T; 12:101193656-101193656	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.768C>T; p.I256I; 12:101190533-101190533	skin	malignant_melanoma	Substitution - coding silent
c.530G>T; p.C177F; 12:101195102-101195102	liver	carcinoma	Substitution - Missense
c.465T>A; p.N155K; 12:101202168-101202168	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1203G>A; p.A401A; 12:101180059-101180059	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1203G>A; p.A401A; 12:101180059-101180059	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.967A>T; p.M323L; 12:101184219-101184219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>A; p.A313T; 12:101187412-101187412	skin	malignant_melanoma	Substitution - Missense
c.49G>A; p.V17M; 12:101209800-101209800	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.60C>T; p.G20G; 12:101209789-101209789	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1358C>T; p.S453F; 12:101166662-101166662	skin	malignant_melanoma	Substitution - Missense
c.60C>T; p.G20G; 12:101209789-101209789	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1534C>T; p.L512L; 12:101162070-101162070	breast	carcinoma	Substitution - coding silent
c.1480G>T; p.E494*; 12:101166540-101166540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1747G>A; p.E583K; 12:101157365-101157365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.260T>G; p.I87S; 12:101209589-101209589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1124C>T; p.S375L; 12:101182844-101182844	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.250A>G; p.I84V; 12:101209599-101209599	skin	malignant_melanoma	Substitution - Missense
c.1456G>C; p.E486Q; 12:101166564-101166564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1124C>T; p.S375L; 12:101182844-101182844	skin	malignant_melanoma	Substitution - Missense
c.550G>T; p.A184S; 12:101193767-101193767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1574G>A; p.S525N; 12:101162030-101162030	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.540T>G; p.G180G; 12:101193777-101193777	breast	carcinoma	Substitution - coding silent
c.822C>A; p.F274L; 12:101190479-101190479	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1545C>A; p.N515K; 12:101162059-101162059	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700C>T; p.P234S; 12:101190601-101190601	skin	malignant_melanoma	Substitution - Missense
c.700C>T; p.P234S; 12:101190601-101190601	skin	malignant_melanoma	Substitution - Missense
c.1678G>A; p.D560N; 12:101158281-101158281	skin	malignant_melanoma	Substitution - Missense
c.399C>T; p.V133V; 12:101204518-101204518	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1006G>A; p.G336R; 12:101184180-101184180	skin	malignant_melanoma	Substitution - Missense
c.985G>T; p.D329Y; 12:101184201-101184201	central_nervous_system; brain	glioma	Substitution - Missense
c.1208C>T; p.A403V; 12:101180054-101180054	central_nervous_system; brain	glioma	Substitution - Missense
c.532A>T; p.T178S; 12:101195100-101195100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675A>C; p.G225G; 12:101193642-101193642	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.675A>C; p.G225G; 12:101193642-101193642	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1160G>C; p.G387A; 12:101182808-101182808	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1507C>T; p.Q503*; 12:101166513-101166513	skin	malignant_melanoma	Substitution - Nonsense
c.1507C>T; p.Q503*; 12:101166513-101166513	skin	malignant_melanoma	Substitution - Nonsense
c.1567T>C; p.Y523H; 12:101162037-101162037	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1713G>A; p.K571K; 12:101157399-101157399	skin	malignant_melanoma	Substitution - coding silent
c.494C>T; p.A165V; 12:101195138-101195138	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.494C>T; p.A165V; 12:101195138-101195138	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>C; p.I537L; 12:101161995-101161995	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>A; p.P552H; 12:101158304-101158304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.535C>A; p.L179M; 12:101195097-101195097	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.862T>C; p.W288R; 12:101187487-101187487	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.13C>T; p.R5W; 12:101209836-101209836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.G449R; 12:101166675-101166675	skin	malignant_melanoma	Substitution - Missense
c.1648T>G; p.L550V; 12:101158311-101158311	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.895C>T; p.L299F; 12:101187454-101187454	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>T; p.Q192*; 12:101193743-101193743	skin	malignant_melanoma	Substitution - Nonsense
c.573delT; p.Q192fs*12; 12:101193744-101193744	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1662C>T; p.Y554Y; 12:101158297-101158297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1201G>T; p.A401S; 12:101180061-101180061	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1254T>A; p.G418G; 12:101168162-101168162	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1789T>C; p.L597L; 12:101157323-101157323	NS	malignant_melanoma	Substitution - coding silent
c.1789T>C; p.L597L; 12:101157323-101157323	NS	malignant_melanoma	Substitution - coding silent
c.1789T>C; p.L597L; 12:101157323-101157323	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.285G>A; p.V95V; 12:101209564-101209564	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.285G>A; p.V95V; 12:101209564-101209564	ovary	other; neoplasm	Substitution - coding silent
c.870C>A; p.I290I; 12:101187479-101187479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1218G>A; p.M406I; 12:101180044-101180044	skin	malignant_melanoma	Substitution - Missense
c.1532C>T; p.P511L; 12:101162072-101162072	skin	malignant_melanoma	Substitution - Missense
c.1318A>G; p.I440V; 12:101168098-101168098	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966C>A; p.L322L; 12:101184220-101184220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630G>A; p.G544R; 12:101161974-101161974	skin	malignant_melanoma	Substitution - Missense
c.1706A>G; p.K569R; 12:101158253-101158253	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.169G>A; p.V57M; 12:101209680-101209680	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1746G>A; p.V582V; 12:101157366-101157366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1470G>T; p.M490I; 12:101166550-101166550	thyroid	other; neoplasm	Substitution - Missense
c.108G>T; p.G36G; 12:101209741-101209741	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.908C>T; p.S303F; 12:101187441-101187441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.677G>T; p.R226I; 12:101193640-101193640	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1390C>T; p.P464S; 12:101166630-101166630	skin	malignant_melanoma	Substitution - Missense
c.1003C>A; p.P335T; 12:101184183-101184183	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.780C>A; p.N260K; 12:101190521-101190521	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.790G>C; p.V264L; 12:101190511-101190511	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1453A>G; p.N485D; 12:101166567-101166567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1375G>A; p.G459R; 12:101166645-101166645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1375G>A; p.G459R; 12:101166645-101166645	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1375G>A; p.G459R; 12:101166645-101166645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.606delC; p.V203fs*1; 12:101193711-101193711	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.690G>A; p.W230*; 12:101193627-101193627	skin	malignant_melanoma	Substitution - Nonsense
c.30C>T; p.F10F; 12:101209819-101209819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1607G>A; p.G536E; 12:101161997-101161997	skin	malignant_melanoma	Substitution - Missense
c.846C>T; p.I282I; 12:101187503-101187503	skin	malignant_melanoma	Substitution - coding silent
c.382C>T; p.R128C; 12:101204535-101204535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.V456I; 12:101166654-101166654	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.382C>T; p.R128C; 12:101204535-101204535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1108A>G; p.K370E; 12:101182860-101182860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.185C>A; p.T62N; 12:101209664-101209664	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.786C>G; p.S262S; 12:101190515-101190515	ovary	other; neoplasm	Substitution - coding silent
c.513G>A; p.V171V; 12:101195119-101195119	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.879C>T; p.C293C; 12:101187470-101187470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1427A>G; p.D476G; 12:101166593-101166593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.418-1G>T; p.?; 12:101202216-101202216	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.111C>T; p.G37G; 12:101209738-101209738	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1445G>A; p.S482N; 12:101166575-101166575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1677G>A; p.E559E; 12:101158282-101158282	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.529T>C; p.C177R; 12:101195103-101195103	liver	carcinoma	Substitution - Missense
c.300G>A; p.A100A; 12:101209549-101209549	skin	malignant_melanoma	Substitution - coding silent
c.985G>A; p.D329N; 12:101184201-101184201	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.300G>A; p.A100A; 12:101209549-101209549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1798G>T; p.D600Y; 12:101157314-101157314	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.823C>G; p.Q275E; 12:101190478-101190478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195C>T; p.F65F; 12:101209654-101209654	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.195C>T; p.F65F; 12:101209654-101209654	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.99C>A; p.A33A; 12:101209750-101209750	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.928C>T; p.P310S; 12:101187421-101187421	skin	malignant_melanoma	Substitution - Missense
c.312C>T; p.L104L; 12:101209537-101209537	skin	malignant_melanoma	Substitution - coding silent
c.364C>T; p.R122*; 12:101204553-101204553	skin	malignant_melanoma	Substitution - Nonsense
c.148C>T; p.R50C; 12:101209701-101209701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.148C>T; p.R50C; 12:101209701-101209701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1353C>A; p.A451A; 12:101166667-101166667	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1619G>A; p.S540N; 12:101161985-101161985	skin	malignant_melanoma	Substitution - Missense
c.909C>T; p.S303S; 12:101187440-101187440	skin	malignant_melanoma	Substitution - coding silent
c.943A>G; p.K315E; 12:101187406-101187406	liver	carcinoma	Substitution - Missense
c.638G>A; p.G213E; 12:101193679-101193679	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1644G>T; p.Q548H; 12:101158315-101158315	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1634G>A; p.G545E; 12:101158325-101158325	skin	malignant_melanoma	Substitution - Missense
c.558C>A; p.I186I; 12:101193759-101193759	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1370G>A; p.G457E; 12:101166650-101166650	skin	malignant_melanoma	Substitution - Missense
c.1126_1133delCTCTCAGA; p.L376fs*90; 12:101182835-101182842	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1736C>T; p.S579L; 12:101157376-101157376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605C>T; p.S202F; 12:101193712-101193712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.577G>A; p.V193I; 12:101193740-101193740	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.730A>G; p.T244A; 12:101190571-101190571	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1158A>G; p.Q386Q; 12:101182810-101182810	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.492C>T; p.G164G; 12:101195140-101195140	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.794A>G; p.Q265R; 12:101190507-101190507	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1830G>A; p.L610L; 12:101157282-101157282	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.54C>T; p.F18F; 12:101209795-101209795	skin	malignant_melanoma	Substitution - coding silent
c.228C>T; p.S76S; 12:101209621-101209621	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1246G>A; p.V416I; 12:101168170-101168170	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.S76S; 12:101209621-101209621	skin	malignant_melanoma	Substitution - coding silent
c.1121G>T; p.R374I; 12:101182847-101182847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.538-1G>T; p.?; 12:101193780-101193780	liver	carcinoma	Unknown
c.538-1G>T; p.?; 12:101193780-101193780	liver	carcinoma	Unknown
c.538-1G>T; p.?; 12:101193780-101193780	liver	carcinoma	Unknown
c.507G>A; p.T169T; 12:101195125-101195125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.507G>A; p.T169T; 12:101195125-101195125	skin	malignant_melanoma	Substitution - coding silent
c.1608G>A; p.G536G; 12:101161996-101161996	skin	malignant_melanoma	Substitution - coding silent
c.1480G>A; p.E494K; 12:101166540-101166540	skin	malignant_melanoma	Substitution - Missense
c.1633G>A; p.G545R; 12:101158326-101158326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1627A>C; p.T543P; 12:101161977-101161977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.964-1G>C; p.?; 12:101184223-101184223	lung	carcinoma; adenocarcinoma	Unknown
c.964-1G>C; p.?; 12:101184223-101184223	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1547_1548GG>TC; p.W516>?; 12:101162056-101162057	lung	carcinoma; adenocarcinoma	Complex
c.1631-5delT; p.?; 12:101158333-101158333	skin	malignant_melanoma	Unknown
c.1631-5delT; p.?; 12:101158333-101158333	skin	malignant_melanoma	Unknown
c.964-1G>C; p.?; 12:101184223-101184223	liver	carcinoma	Unknown

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation