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	57091
Symbol	CASS4
Synonymous	C20orf32\|CAS4\|HEFL\|HEPL
Full name	Cas scaffolding protein family member 4
Gene description	HEF-like protein\|HEF1-EFS-p130Cas-like protein\|cas scaffolding protein family member 4
Cytoband	20q13.31
Gene type	protein-coding
Synonymous	HGNC:HGNC:15878; Ensembl:ENSG00000087589; HPRD:09842; Vega:OTTHUMG00000032788

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1305G>A; p.L435L; 20:56452481-56452481	skin	malignant_melanoma	Substitution - coding silent
c.1644G>A; p.V548V; 20:56452820-56452820	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1047T>G; p.I349M; 20:56452223-56452223	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1315G>A; p.V439M; 20:56452491-56452491	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.106G>A; p.D36N; 20:56437233-56437233	skin	malignant_melanoma	Substitution - Missense
c.2127C>T; p.V709V; 20:56458513-56458513	skin	malignant_melanoma	Substitution - coding silent
c.121C>A; p.L41M; 20:56437248-56437248	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.928C>T; p.P310S; 20:56452104-56452104	skin	malignant_melanoma	Substitution - Missense
c.183C>T; p.G61G; 20:56437310-56437310	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1363G>A; p.V455I; 20:56452539-56452539	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1085C>T; p.A362V; 20:56452261-56452261	skin; trunk	malignant_melanoma	Substitution - Missense
c.401C>T; p.P134L; 20:56437528-56437528	skin	malignant_melanoma	Substitution - Missense
c.2348G>C; p.G783A; 20:56458734-56458734	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1625G>A; p.W542*; 20:56452801-56452801	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2065G>A; p.A689T; 20:56458451-56458451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1828A>G; p.K610E; 20:56453004-56453004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2042G>T; p.G681V; 20:56458428-56458428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.932C>T; p.S311F; 20:56452108-56452108	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.113_114TG>CT; p.L38P; 20:56437240-56437241	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.262G>A; p.E88K; 20:56437389-56437389	skin	malignant_melanoma	Substitution - Missense
c.487C>T; p.R163W; 20:56445927-56445927	skin	malignant_melanoma	Substitution - Missense
c.487C>T; p.R163W; 20:56445927-56445927	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1549C>T; p.R517W; 20:56452725-56452725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.545G>A; p.G182D; 20:56445985-56445985	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1549C>T; p.R517W; 20:56452725-56452725	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1549C>T; p.R517W; 20:56452725-56452725	skin	malignant_melanoma	Substitution - Missense
c.1549C>T; p.R517W; 20:56452725-56452725	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.409C>T; p.P137S; 20:56437536-56437536	thyroid	other; neoplasm	Substitution - Missense
c.1236G>A; p.S412S; 20:56452412-56452412	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.525C>G; p.D175E; 20:56445965-56445965	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1493G>A; p.R498Q; 20:56452669-56452669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.135G>A; p.V45V; 20:56437262-56437262	thyroid	other; neoplasm	Substitution - coding silent
c.2346A>G; p.R782R; 20:56458732-56458732	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1214G>A; p.S405N; 20:56452390-56452390	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.215C>T; p.T72M; 20:56437342-56437342	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1978C>T; p.P660S; 20:56458364-56458364	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.597C>A; p.A199A; 20:56450634-56450634	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2142_2143insA; p.L716fs*37; 20:56458528-56458529	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.402C>T; p.P134P; 20:56437529-56437529	skin	malignant_melanoma	Substitution - coding silent
c.696C>T; p.S232S; 20:56451872-56451872	skin	malignant_melanoma	Substitution - coding silent
c.1048T>A; p.Y350N; 20:56452224-56452224	prostate	carcinoma	Substitution - Missense
c.837C>A; p.F279L; 20:56452013-56452013	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1804C>A; p.P602T; 20:56452980-56452980	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1444T>C; p.S482P; 20:56452620-56452620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2217C>A; p.H739Q; 20:56458603-56458603	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.37-4A>T; p.?; 20:56437160-56437160	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1613A>G; p.D538G; 20:56452789-56452789	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1250C>G; p.S417C; 20:56452426-56452426	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>A; p.K370K; 20:56452286-56452286	skin	malignant_melanoma	Substitution - coding silent
c.1155C>T; p.S385S; 20:56452331-56452331	skin	malignant_melanoma	Substitution - coding silent
c.433G>A; p.E145K; 20:56437560-56437560	skin	malignant_melanoma	Substitution - Missense
c.2179A>G; p.R727G; 20:56458565-56458565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2271G>A; p.T757T; 20:56458657-56458657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1492C>T; p.R498*; 20:56452668-56452668	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.76T>C; p.C26R; 20:56437203-56437203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>A; p.G61S; 20:56437308-56437308	pancreas	carcinoma	Substitution - Missense
c.181G>A; p.G61S; 20:56437308-56437308	pancreas	carcinoma	Substitution - Missense
c.211C>A; p.L71I; 20:56437338-56437338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1406G>A; p.R469Q; 20:56452582-56452582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.527T>A; p.V176E; 20:56445967-56445967	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.272C>T; p.P91L; 20:56437399-56437399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.817_818CC>AA; p.P273N; 20:56451993-56451994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2188C>T; p.R730C; 20:56458574-56458574	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1232C>A; p.S411Y; 20:56452408-56452408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1054A>G; p.I352V; 20:56452230-56452230	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.400C>T; p.P134S; 20:56437527-56437527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.811G>A; p.A271T; 20:56451987-56451987	liver	carcinoma	Substitution - Missense
c.1180G>C; p.E394Q; 20:56452356-56452356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.A271T; 20:56451987-56451987	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2314G>A; p.E772K; 20:56458700-56458700	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.630C>A; p.D210E; 20:56450667-56450667	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>T; p.P159P; 20:56445917-56445917	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2204G>A; p.R735H; 20:56458590-56458590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.S171F; 20:56445952-56445952	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>T; p.P159P; 20:56445917-56445917	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2043G>A; p.G681G; 20:56458429-56458429	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2034C>G; p.L678L; 20:56458420-56458420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.150T>C; p.G50G; 20:56437277-56437277	skin	malignant_melanoma	Substitution - coding silent
c.313C>T; p.R105C; 20:56437440-56437440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1096C>A; p.L366M; 20:56452272-56452272	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>T; p.W119L; 20:56437483-56437483	skin	malignant_melanoma	Substitution - Missense
c.1131G>T; p.A377A; 20:56452307-56452307	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1361C>A; p.S454Y; 20:56452537-56452537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1056C>T; p.I352I; 20:56452232-56452232	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.366G>C; p.G122G; 20:56437493-56437493	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2113C>T; p.Q705*; 20:56458499-56458499	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.336T>G; p.V112V; 20:56437463-56437463	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.284A>G; p.E95G; 20:56437411-56437411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1500C>T; p.V500V; 20:56452676-56452676	skin	malignant_melanoma	Substitution - coding silent
c.1093G>A; p.E365K; 20:56452269-56452269	skin	malignant_melanoma	Substitution - Missense
c.1149G>A; p.W383*; 20:56452325-56452325	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2262C>T; p.A754A; 20:56458648-56458648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551G>T; p.R517R; 20:56452727-56452727	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.973G>C; p.E325Q; 20:56452149-56452149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2004G>A; p.R668R; 20:56458390-56458390	skin	malignant_melanoma	Substitution - coding silent
c.1648G>T; p.D550Y; 20:56452824-56452824	breast	carcinoma	Substitution - Missense
c.1227C>A; p.I409I; 20:56452403-56452403	prostate	carcinoma	Substitution - coding silent
c.805C>T; p.P269S; 20:56451981-56451981	skin	malignant_melanoma	Substitution - Missense
c.816C>G; p.L272L; 20:56451992-56451992	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1071G>A; p.S357S; 20:56452247-56452247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1740C>T; p.V580V; 20:56452916-56452916	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.669G>A; p.V223V; 20:56451845-56451845	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.760A>G; p.S254G; 20:56451936-56451936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.760A>G; p.S254G; 20:56451936-56451936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.96C>T; p.F32F; 20:56437223-56437223	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.626C>G; p.P209R; 20:56450663-56450663	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2236G>T; p.D746Y; 20:56458622-56458622	skin	malignant_melanoma	Substitution - Missense
c.2289G>T; p.A763A; 20:56458675-56458675	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.501G>A; p.P167P; 20:56445941-56445941	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2205T>C; p.R735R; 20:56458591-56458591	thyroid	other; neoplasm	Substitution - coding silent
c.99C>T; p.S33S; 20:56437226-56437226	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1232C>T; p.S411F; 20:56452408-56452408	skin	malignant_melanoma	Substitution - Missense
c.964C>T; p.P322S; 20:56452140-56452140	skin	malignant_melanoma	Substitution - Missense
c.964C>T; p.P322S; 20:56452140-56452140	skin	malignant_melanoma	Substitution - Missense
c.2287G>A; p.A763T; 20:56458673-56458673	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2133G>A; p.M711I; 20:56458519-56458519	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2063G>T; p.S688I; 20:56458449-56458449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.558G>A; p.L186L; 20:56445998-56445998	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1623T>A; p.N541K; 20:56452799-56452799	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1633G>A; p.E545K; 20:56452809-56452809	skin	malignant_melanoma	Substitution - Missense
c.1935G>A; p.R645R; 20:56453111-56453111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1822T>A; p.C608S; 20:56452998-56452998	skin	malignant_melanoma	Substitution - Missense
c.573G>A; p.K191K; 20:56450610-56450610	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 20:56452304-56452304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.938G>T; p.G313V; 20:56452114-56452114	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.644G>A; p.G215E; 20:56451820-56451820	skin	malignant_melanoma	Substitution - Missense
c.1619G>A; p.R540H; 20:56452795-56452795	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.R540H; 20:56452795-56452795	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1312G>A; p.D438N; 20:56452488-56452488	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1619G>A; p.R540H; 20:56452795-56452795	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2060T>A; p.I687N; 20:56458446-56458446	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.370C>A; p.Q124K; 20:56437497-56437497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1034C>A; p.T345N; 20:56452210-56452210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2071C>T; p.H691Y; 20:56458457-56458457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1618C>T; p.R540C; 20:56452794-56452794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1306G>A; p.D436N; 20:56452482-56452482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1768C>T; p.R590W; 20:56452944-56452944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2101G>A; p.E701K; 20:56458487-56458487	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.36G>T; p.K12N; 20:56412494-56412494	liver	carcinoma	Substitution - Missense
c.1709C>T; p.P570L; 20:56452885-56452885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1844C>T; p.P615L; 20:56453020-56453020	skin	malignant_melanoma	Substitution - Missense
c.1896G>A; p.R632R; 20:56453072-56453072	skin	malignant_melanoma	Substitution - coding silent
c.1691T>C; p.M564T; 20:56452867-56452867	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.200G>A; p.R67H; 20:56437327-56437327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1211A>G; p.D404G; 20:56452387-56452387	pleura	pulmonary_blastoma	Substitution - Missense
c.479G>T; p.R160I; 20:56445919-56445919	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1135C>A; p.H379N; 20:56452311-56452311	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1135C>A; p.H379N; 20:56452311-56452311	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1208C>G; p.S403C; 20:56452384-56452384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>T; p.A271S; 20:56451987-56451987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1688delT; p.V563fs*38; 20:56452864-56452864	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2134G>T; p.V712L; 20:56458520-56458520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.394G>T; p.E132*; 20:56437521-56437521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.791C>T; p.A264V; 20:56451967-56451967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.791C>T; p.A264V; 20:56451967-56451967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1956T>A; p.N652K; 20:56458342-56458342	skin; extremity	malignant_melanoma	Substitution - Missense
c.550G>A; p.V184M; 20:56445990-56445990	breast	carcinoma	Substitution - Missense
c.380C>T; p.T127I; 20:56437507-56437507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1722G>T; p.K574N; 20:56452898-56452898	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1595A>G; p.E532G; 20:56452771-56452771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1603G>A; p.E535K; 20:56452779-56452779	skin	malignant_melanoma	Substitution - Missense
c.1153T>C; p.S385P; 20:56452329-56452329	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1571C>A; p.S524Y; 20:56452747-56452747	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.53C>A; p.A18E; 20:56437180-56437180	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2064C>T; p.S688S; 20:56458450-56458450	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1705C>A; p.L569I; 20:56452881-56452881	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1015C>T; p.R339*; 20:56452191-56452191	oesophagus	carcinoma	Substitution - Nonsense
c.2009C>A; p.P670H; 20:56458395-56458395	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>T; p.N506N; 20:56452694-56452694	skin; arm	malignant_melanoma	Substitution - coding silent
c.257G>T; p.G86V; 20:56437384-56437384	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1958C>A; p.P653H; 20:56458344-56458344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2209A>C; p.S737R; 20:56458595-56458595	ovary	other; neoplasm	Substitution - Missense
c.1278G>A; p.S426S; 20:56452454-56452454	large_intestine; rectum	adenoma	Substitution - coding silent
c.510delT; p.S171fs*16; 20:56445950-56445950	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.979G>A; p.V327I; 20:56452155-56452155	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2307G>A; p.A769A; 20:56458693-56458693	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2307G>A; p.A769A; 20:56458693-56458693	skin	malignant_melanoma	Substitution - coding silent
c.1384G>T; p.V462F; 20:56452560-56452560	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568G>A; p.E190K; 20:56450605-56450605	urinary_tract; bladder	carcinoma	Substitution - Missense
c.568G>A; p.E190K; 20:56450605-56450605	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.500C>T; p.P167L; 20:56445940-56445940	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1089G>A; p.G363G; 20:56452265-56452265	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.863G>A; p.R288K; 20:56452039-56452039	skin	malignant_melanoma	Substitution - Missense
c.1016G>A; p.R339Q; 20:56452192-56452192	skin	malignant_melanoma	Substitution - Missense
c.1016G>A; p.R339Q; 20:56452192-56452192	skin	malignant_melanoma	Substitution - Missense
c.488G>A; p.R163Q; 20:56445928-56445928	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.314G>A; p.R105H; 20:56437441-56437441	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1254C>T; p.T418T; 20:56452430-56452430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2285C>T; p.A762V; 20:56458671-56458671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1110_1111GG>AA; p.E371K; 20:56452286-56452287	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1979C>T; p.P660L; 20:56458365-56458365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2285C>T; p.A762V; 20:56458671-56458671	skin	malignant_melanoma	Substitution - Missense
c.938G>A; p.G313D; 20:56452114-56452114	prostate	carcinoma	Substitution - Missense
c.1764T>A; p.F588L; 20:56452940-56452940	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1004T>A; p.F335Y; 20:56452180-56452180	skin	malignant_melanoma	Substitution - Missense
c.399C>T; p.F133F; 20:56437526-56437526	skin	malignant_melanoma	Substitution - coding silent
c.210C>T; p.I70I; 20:56437337-56437337	skin	malignant_melanoma	Substitution - coding silent
c.2098G>A; p.A700T; 20:56458484-56458484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>T; p.P393S; 20:56452353-56452353	skin	malignant_melanoma	Substitution - Missense
c.655C>T; p.P219S; 20:56451831-56451831	skin; trunk	malignant_melanoma	Substitution - Missense
c.1489G>T; p.A497S; 20:56452665-56452665	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.353G>A; p.S118N; 20:56437480-56437480	skin	malignant_melanoma	Substitution - Missense
c.1311G>T; p.L437L; 20:56452487-56452487	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1640T>C; p.L547P; 20:56452816-56452816	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1640T>C; p.L547P; 20:56452816-56452816	skin	malignant_melanoma	Substitution - Missense
c.285G>A; p.E95E; 20:56437412-56437412	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070C>T; p.S357L; 20:56452246-56452246	breast	carcinoma	Substitution - Missense
c.710C>T; p.P237L; 20:56451886-56451886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>T; p.S357L; 20:56452246-56452246	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1640T>C; p.L547P; 20:56452816-56452816	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1475A>T; p.E492V; 20:56452651-56452651	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2256G>T; p.K752N; 20:56458642-56458642	thyroid	other; neoplasm	Substitution - Missense
c.1878C>T; p.T626T; 20:56453054-56453054	oesophagus	carcinoma	Substitution - coding silent
c.2189G>A; p.R730H; 20:56458575-56458575	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.948A>T; p.V316V; 20:56452124-56452124	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2193C>T; p.N731N; 20:56458579-56458579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.414C>A; p.T138T; 20:56437541-56437541	thyroid	other; neoplasm	Substitution - coding silent
c.1085C>A; p.A362D; 20:56452261-56452261	pancreas	carcinoma	Substitution - Missense
c.1682G>A; p.R561K; 20:56452858-56452858	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2075G>A; p.G692D; 20:56458461-56458461	central_nervous_system; brain	glioma	Substitution - Missense
c.406C>A; p.P136T; 20:56437533-56437533	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1067C>T; p.T356M; 20:56452243-56452243	stomach	adenocarcinoma	Substitution - Missense
c.2210G>A; p.S737N; 20:56458596-56458596	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.760A>T; p.S254C; 20:56451936-56451936	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2003G>A; p.R668K; 20:56458389-56458389	skin	malignant_melanoma	Substitution - Missense
c.1756C>A; p.L586I; 20:56452932-56452932	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.S149N; 20:56437573-56437573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1099G>A; p.E367K; 20:56452275-56452275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.784A>G; p.S262G; 20:56451960-56451960	breast	carcinoma	Substitution - Missense
c.2288C>T; p.A763V; 20:56458674-56458674	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.564G>T; p.E188D; 20:56450601-56450601	pancreas	carcinoma	Substitution - Missense
c.411C>A; p.P137P; 20:56437538-56437538	thyroid	other; neoplasm	Substitution - coding silent
c.216G>A; p.T72T; 20:56437343-56437343	skin	malignant_melanoma	Substitution - coding silent
c.2273A>G; p.Y758C; 20:56458659-56458659	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2273A>G; p.Y758C; 20:56458659-56458659	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.976G>T; p.D326Y; 20:56452152-56452152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.216G>A; p.T72T; 20:56437343-56437343	skin	malignant_melanoma	Substitution - coding silent
c.499C>T; p.P167S; 20:56445939-56445939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1263C>A; p.S421S; 20:56452439-56452439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1011T>C; p.I337I; 20:56452187-56452187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2333C>T; p.T778M; 20:56458719-56458719	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1550G>T; p.R517L; 20:56452726-56452726	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714G>C; p.Q238H; 20:56451890-56451890	breast	carcinoma	Substitution - Missense
c.1687G>T; p.V563F; 20:56452863-56452863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2185G>A; p.V729M; 20:56458571-56458571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.P310L; 20:56452105-56452105	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1137T>C; p.H379H; 20:56452313-56452313	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.23A>T; p.D8V; 20:56412481-56412481	breast	carcinoma	Substitution - Missense
c.1474G>A; p.E492K; 20:56452650-56452650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2239G>A; p.V747I; 20:56458625-56458625	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>T; p.L169L; 20:56445945-56445945	ovary	other; neoplasm	Substitution - coding silent
c.359C>T; p.A120V; 20:56437486-56437486	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.852T>C; p.S284S; 20:56452028-56452028	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.763G>A; p.V255I; 20:56451939-56451939	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1829A>C; p.K610T; 20:56453005-56453005	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.81T>A; p.S27S; 20:56437208-56437208	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.430T>A; p.C144S; 20:56437557-56437557	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.490G>A; p.A164T; 20:56445930-56445930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.965C>A; p.P322H; 20:56452141-56452141	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1332G>T; p.V444V; 20:56452508-56452508	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2194G>A; p.E732K; 20:56458580-56458580	skin	malignant_melanoma	Substitution - Missense
c.993T>A; p.V331V; 20:56452169-56452169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation