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	9780
Symbol	PIEZO1
Synonymous	DHS\|FAM38A\|Mib
Full name	piezo-type mechanosensitive ion channel component 1
Gene description	family with sequence similarity 38, member A\|membrane protein induced by beta-amyloid treatment
Cytoband	16q24.3
Gene type	protein-coding
Synonymous	MIM:611184; HGNC:HGNC:28993; Ensembl:ENSG00000103335; HPRD:10945; Vega:OTTHUMG00000156776

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2970C>T; p.F990F; 16:88732356-88732356	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4815C>T; p.D1605D; 16:88722358-88722358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2293G>A; p.V765M; 16:88733942-88733942	liver	carcinoma	Substitution - Missense
c.1365G>A; p.T455T; 16:88736340-88736340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1540C>T; p.L514L; 16:88736165-88736165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1540C>T; p.L514L; 16:88736165-88736165	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1365G>A; p.T455T; 16:88736340-88736340	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5597C>A; p.T1866K; 16:88721237-88721237	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6660+7A>T; p.?; 16:88717016-88717016	kidney	other; neoplasm	Unknown
c.2245_2246insAGG; p.E756_D757insE; 16:88733989-88733990	prostate	carcinoma	Insertion - In frame
c.3969-5T>C; p.?; 16:88725689-88725689	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.4744G>A; p.E1582K; 16:88722614-88722614	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5195C>T; p.T1732M; 16:88721827-88721827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6882C>T; p.N2294N; 16:88716603-88716603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6598G>A; p.V2200M; 16:88717085-88717085	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5821C>T; p.P1941S; 16:88720513-88720513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3421G>A; p.E1141K; 16:88727073-88727073	oesophagus	carcinoma	Substitution - Missense
c.5991C>T; p.D1997D; 16:88720242-88720242	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447G>A; p.V483M; 16:88736258-88736258	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2781C>T; p.G927G; 16:88732616-88732616	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1672C>T; p.P558S; 16:88735051-88735051	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5538C>A; p.A1846A; 16:88721296-88721296	liver	carcinoma	Substitution - coding silent
c.2611C>T; p.L871L; 16:88733331-88733331	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7081C>T; p.R2361C; 16:88716246-88716246	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7081C>T; p.R2361C; 16:88716246-88716246	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6529G>A; p.G2177S; 16:88717154-88717154	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7362C>T; p.F2454F; 16:88715809-88715809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7362C>T; p.F2454F; 16:88715809-88715809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7362C>T; p.F2454F; 16:88715809-88715809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7362C>T; p.F2454F; 16:88715809-88715809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7251G>A; p.L2417L; 16:88715998-88715998	breast	carcinoma	Substitution - coding silent
c.3344T>G; p.V1115G; 16:88727150-88727150	breast	carcinoma	Substitution - Missense
c.5754_5755insG; p.R1919fs*50; 16:88720662-88720663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.7422G>C; p.V2474V; 16:88715749-88715749	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1578C>G; p.F526L; 16:88735226-88735226	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.6690G>C; p.P2230P; 16:88716869-88716869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1578C>G; p.F526L; 16:88735226-88735226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4405_4406insAGCAGG; p.Q1468_A1469insEQ; 16:88723258-88723259	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - In frame
c.6861G>C; p.Q2287H; 16:88716624-88716624	breast	carcinoma	Substitution - Missense
c.4405_4406insAGCAGG; p.Q1468_A1469insEQ; 16:88723258-88723259	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.4405_4406insAGCAGG; p.Q1468_A1469insEQ; 16:88723258-88723259	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - In frame
c.3895C>T; p.R1299C; 16:88726357-88726357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2546G>T; p.R849L; 16:88733396-88733396	thyroid	other; neoplasm	Substitution - Missense
c.5285G>A; p.R1762H; 16:88721656-88721656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1861C>A; p.L621M; 16:88734786-88734786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6506_6508delAGA; p.K2169delK; 16:88717175-88717177	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.5112C>T; p.S1704S; 16:88721910-88721910	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6282C>T; p.L2094L; 16:88719843-88719843	breast	carcinoma	Substitution - coding silent
c.6506_6508delAGA; p.K2169delK; 16:88717175-88717177	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.1660G>T; p.A554S; 16:88735144-88735144	ovary	other; neoplasm	Substitution - Missense
c.7374C>G; p.F2458L; 16:88715797-88715797	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7374C>G; p.F2458L; 16:88715797-88715797	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.7374C>G; p.F2458L; 16:88715797-88715797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2938C>A; p.L980I; 16:88732388-88732388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.765C>T; p.F255F; 16:88738310-88738310	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5176A>G; p.S1726G; 16:88721846-88721846	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6790G>C; p.D2264H; 16:88716695-88716695	breast	carcinoma	Substitution - Missense
c.5771G>A; p.G1924E; 16:88720646-88720646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6579C>A; p.F2193L; 16:88717104-88717104	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5232G>A; p.K1744K; 16:88721709-88721709	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7080C>T; p.I2360I; 16:88716247-88716247	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7080C>T; p.I2360I; 16:88716247-88716247	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.6243C>A; p.I2081I; 16:88719882-88719882	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2989G>C; p.E997Q; 16:88732337-88732337	NS	NS	Substitution - Missense
c.1998-4A>G; p.?; 16:88734542-88734542	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1998-4A>G; p.?; 16:88734542-88734542	liver	carcinoma	Unknown
c.4735G>T; p.G1579C; 16:88722623-88722623	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3778G>A; p.V1260I; 16:88726565-88726565	liver	carcinoma	Substitution - Missense
c.1465C>T; p.R489C; 16:88736240-88736240	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1465C>T; p.R489C; 16:88736240-88736240	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5538C>G; p.A1846A; 16:88721296-88721296	thyroid	other; neoplasm	Substitution - coding silent
c.5538C>G; p.A1846A; 16:88721296-88721296	breast	carcinoma	Substitution - coding silent
c.5538C>G; p.A1846A; 16:88721296-88721296	breast	carcinoma	Substitution - coding silent
c.7203C>T; p.L2401L; 16:88716046-88716046	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.503C>G; p.A168G; 16:88738699-88738699	breast	carcinoma	Substitution - Missense
c.4724C>T; p.A1575V; 16:88722634-88722634	breast	carcinoma	Substitution - Missense
c.5875G>A; p.D1959N; 16:88720459-88720459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7368C>T; p.R2456R; 16:88715803-88715803	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5500C>T; p.P1834S; 16:88721334-88721334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1495G>A; p.V499I; 16:88736210-88736210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1495G>A; p.V499I; 16:88736210-88736210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1495G>A; p.V499I; 16:88736210-88736210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1495G>A; p.V499I; 16:88736210-88736210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5828G>A; p.R1943Q; 16:88720506-88720506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5116G>A; p.G1706S; 16:88721906-88721906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180G>C; p.V394L; 16:88737574-88737574	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6793A>G; p.I2265V; 16:88716692-88716692	thyroid	other; neoplasm	Substitution - Missense
c.6793A>G; p.I2265V; 16:88716692-88716692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.161-4G>A; p.?; 16:88742426-88742426	liver	carcinoma	Unknown
c.161-4G>A; p.?; 16:88742426-88742426	liver	carcinoma	Unknown
c.161-4G>A; p.?; 16:88742426-88742426	liver	carcinoma	Unknown
c.6310T>C; p.F2104L; 16:88719815-88719815	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.6793A>G; p.I2265V; 16:88716692-88716692	thyroid	other; neoplasm	Substitution - Missense
c.6310T>C; p.F2104L; 16:88719815-88719815	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5909T>C; p.V1970A; 16:88720425-88720425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4102C>T; p.R1368W; 16:88725476-88725476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1683G>A; p.T561T; 16:88735040-88735040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1013C>A; p.S338Y; 16:88737941-88737941	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5644G>T; p.A1882S; 16:88721190-88721190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.327-9T>C; p.?; 16:88741625-88741625	pancreas	carcinoma	Unknown
c.5988A>G; p.S1996S; 16:88720245-88720245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1481C>T; p.T494I; 16:88736224-88736224	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6594C>A; p.R2198R; 16:88717089-88717089	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1370G>A; p.R457H; 16:88736335-88736335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6594C>A; p.R2198R; 16:88717089-88717089	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2926G>C; p.D976H; 16:88732400-88732400	breast	carcinoma	Substitution - Missense
c.4215C>T; p.P1405P; 16:88725028-88725028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2740G>A; p.A914T; 16:88732657-88732657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5143T>A; p.F1715I; 16:88721879-88721879	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2159G>A; p.R720H; 16:88734377-88734377	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2159G>A; p.R720H; 16:88734377-88734377	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2159G>A; p.R720H; 16:88734377-88734377	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2159G>A; p.R720H; 16:88734377-88734377	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2159G>A; p.R720H; 16:88734377-88734377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2159G>A; p.R720H; 16:88734377-88734377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3081C>T; p.T1027T; 16:88731821-88731821	breast	carcinoma	Substitution - coding silent
c.4322A>G; p.Q1441R; 16:88723884-88723884	breast	carcinoma	Substitution - Missense
c.2245_2247delCAG; p.Q749delQ; 16:88733988-88733990	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2245_2247delCAG; p.Q749delQ; 16:88733988-88733990	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2245_2247delCAG; p.Q749delQ; 16:88733988-88733990	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2245_2247delCAG; p.Q749delQ; 16:88733988-88733990	breast	carcinoma	Deletion - In frame
c.6222C>T; p.F2074F; 16:88719903-88719903	breast	carcinoma	Substitution - coding silent
c.2245_2247delCAG; p.Q749delQ; 16:88733988-88733990	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.4625T>A; p.V1542E; 16:88722880-88722880	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4439G>T; p.G1480V; 16:88723151-88723151	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1469C>A; p.P490H; 16:88736236-88736236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2130C>T; p.D710D; 16:88734406-88734406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6642G>C; p.L2214L; 16:88717041-88717041	thyroid	other; neoplasm	Substitution - coding silent
c.3106C>G; p.R1036G; 16:88731796-88731796	prostate	carcinoma	Substitution - Missense
c.3689A>G; p.N1230S; 16:88726725-88726725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3744C>G; p.C1248W; 16:88726599-88726599	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5670A>G; p.E1890E; 16:88720747-88720747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5151G>T; p.W1717C; 16:88721871-88721871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5151G>T; p.W1717C; 16:88721871-88721871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3868G>A; p.V1290I; 16:88726384-88726384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5151G>T; p.W1717C; 16:88721871-88721871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1722C>A; p.G574G; 16:88735001-88735001	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1722C>A; p.G574G; 16:88735001-88735001	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.5062G>A; p.E1688K; 16:88721960-88721960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1505G>A; p.R502H; 16:88736200-88736200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5272G>A; p.V1758M; 16:88721669-88721669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2972_2974delTCT; p.F991delF; 16:88732352-88732354	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.7500C>T; p.Y2500Y; 16:88715671-88715671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7500C>T; p.Y2500Y; 16:88715671-88715671	breast	carcinoma	Substitution - coding silent
c.7500C>T; p.Y2500Y; 16:88715671-88715671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7500C>T; p.Y2500Y; 16:88715671-88715671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6570A>G; p.P2190P; 16:88717113-88717113	thyroid	other; neoplasm	Substitution - coding silent
c.7500C>T; p.Y2500Y; 16:88715671-88715671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7500C>T; p.Y2500Y; 16:88715671-88715671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7500C>T; p.Y2500Y; 16:88715671-88715671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6336G>A; p.V2112V; 16:88719709-88719709	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6879C>T; p.Y2293Y; 16:88716606-88716606	breast	carcinoma	Substitution - coding silent
c.3502T>G; p.W1168G; 16:88726912-88726912	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3634C>A; p.L1212I; 16:88726780-88726780	breast	carcinoma	Substitution - Missense
c.6592C>T; p.R2198C; 16:88717091-88717091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.749T>C; p.V250A; 16:88738326-88738326	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5657C>T; p.A1886V; 16:88721177-88721177	pancreas	carcinoma	Substitution - Missense
c.7332C>T; p.Y2444Y; 16:88715839-88715839	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5476G>A; p.G1826R; 16:88721358-88721358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5569C>T; p.P1857S; 16:88721265-88721265	breast	carcinoma	Substitution - Missense
c.6262C>T; p.R2088C; 16:88719863-88719863	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6823G>A; p.G2275R; 16:88716662-88716662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7404C>T; p.F2468F; 16:88715767-88715767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2529C>T; p.F843F; 16:88733413-88733413	breast	carcinoma	Substitution - coding silent
c.1767C>T; p.I589I; 16:88734956-88734956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6803C>T; p.A2268V; 16:88716682-88716682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3238G>A; p.A1080T; 16:88727620-88727620	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6803C>T; p.A2268V; 16:88716682-88716682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5495G>A; p.G1832E; 16:88721339-88721339	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.Q749E; 16:88733990-88733990	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3107G>A; p.R1036H; 16:88731795-88731795	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4619G>A; p.S1540N; 16:88722886-88722886	liver	carcinoma	Substitution - Missense
c.4619G>A; p.S1540N; 16:88722886-88722886	liver	carcinoma	Substitution - Missense
c.6509T>C; p.I2170T; 16:88717174-88717174	pancreas	carcinoma	Substitution - Missense
c.2045C>T; p.S682F; 16:88734491-88734491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4784G>A; p.G1595D; 16:88722389-88722389	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>C; p.T56P; 16:88742417-88742417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1481C>G; p.T494S; 16:88736224-88736224	thyroid	other; neoplasm	Substitution - Missense
c.7169G>A; p.R2390Q; 16:88716080-88716080	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6258C>T; p.P2086P; 16:88719867-88719867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2791-5C>T; p.?; 16:88732540-88732540	pancreas	carcinoma	Unknown
c.7027G>A; p.E2343K; 16:88716383-88716383	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6044T>C; p.M2015T; 16:88720189-88720189	liver	carcinoma	Substitution - Missense
c.294_295delGG; p.W98fs*1; 16:88742084-88742085	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.7059T>C; p.P2353P; 16:88716268-88716268	thyroid	other; neoplasm	Substitution - coding silent
c.6044T>C; p.M2015T; 16:88720189-88720189	liver	carcinoma	Substitution - Missense
c.7059T>C; p.P2353P; 16:88716268-88716268	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4389_4390insGAG; p.Q1463_Q1464insE; 16:88723274-88723275	breast	carcinoma	Insertion - In frame
c.7518C>G; p.L2506L; 16:88715653-88715653	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2052C>T; p.I684I; 16:88734484-88734484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6055C>T; p.R2019C; 16:88720178-88720178	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4313C>T; p.P1438L; 16:88723893-88723893	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	thyroid	other; neoplasm	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4193C>T; p.P1398L; 16:88725050-88725050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.559C>T; p.R187C; 16:88738643-88738643	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4706A>G; p.Y1569C; 16:88722652-88722652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5099T>C; p.M1700T; 16:88721923-88721923	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3625C>T; p.R1209W; 16:88726789-88726789	thyroid	other; neoplasm	Substitution - Missense
c.3759C>A; p.L1253L; 16:88726584-88726584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6205G>A; p.V2069M; 16:88719920-88719920	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2815C>A; p.L939M; 16:88732511-88732511	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>A; p.A577T; 16:88734994-88734994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>A; p.A577T; 16:88734994-88734994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5632_5634delAAG; p.K1878delK; 16:88721200-88721202	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.5632_5634delAAG; p.K1878delK; 16:88721200-88721202	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.5632_5634delAAG; p.K1878delK; 16:88721200-88721202	breast	carcinoma	Deletion - In frame
c.5632_5634delAAG; p.K1878delK; 16:88721200-88721202	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2725G>A; p.G909R; 16:88732672-88732672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2031G>A; p.V677V; 16:88734505-88734505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1754C>T; p.A585V; 16:88734969-88734969	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5632_5634delAAG; p.K1878delK; 16:88721200-88721202	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.7427G>A; p.R2476H; 16:88715744-88715744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3274C>T; p.R1092W; 16:88727584-88727584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7354G>T; p.G2452C; 16:88715817-88715817	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3421delG; p.E1141fs*18; 16:88727073-88727073	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4387C>G; p.Q1463E; 16:88723277-88723277	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1592G>A; p.R531H; 16:88735212-88735212	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.5131C>T; p.P1711S; 16:88721891-88721891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7405G>A; p.E2469K; 16:88715766-88715766	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5738C>A; p.P1913Q; 16:88720679-88720679	breast	carcinoma	Substitution - Missense
c.2423G>A; p.R808Q; 16:88733652-88733652	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4017C>G; p.H1339Q; 16:88725636-88725636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3614A>G; p.Q1205R; 16:88726800-88726800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2392G>A; p.V798I; 16:88733683-88733683	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2661C>T; p.T887T; 16:88733281-88733281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4604A>G; p.H1535R; 16:88722901-88722901	skin; trunk	malignant_melanoma	Substitution - Missense
c.4210C>G; p.R1404G; 16:88725033-88725033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6929A>G; p.D2310G; 16:88716481-88716481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.63T>G; p.A21A; 16:88784902-88784902	thyroid	other; neoplasm	Substitution - coding silent
c.63T>G; p.A21A; 16:88784902-88784902	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.63T>G; p.A21A; 16:88784902-88784902	thyroid	other; neoplasm	Substitution - coding silent
c.2245_2250delCAGGAG; p.Q749_E750delQE; 16:88733985-88733990	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.63T>G; p.A21A; 16:88784902-88784902	thyroid	other; neoplasm	Substitution - coding silent
c.5602C>T; p.R1868C; 16:88721232-88721232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2344G>A; p.G782S; 16:88733731-88733731	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4406_4407insAGCAGG; p.A1469_R1470insAG; 16:88723257-88723258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4406_4407insAGCAGG; p.A1469_R1470insAG; 16:88723257-88723258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4406_4407insAGCAGG; p.A1469_R1470insAG; 16:88723257-88723258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4406_4407insAGCAGG; p.A1469_R1470insAG; 16:88723257-88723258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2715G>A; p.L905L; 16:88732682-88732682	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6204C>T; p.F2068F; 16:88719921-88719921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5113G>A; p.A1705T; 16:88721909-88721909	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5012G>A; p.R1671Q; 16:88722010-88722010	pancreas	carcinoma	Substitution - Missense
c.4385G>A; p.R1462Q; 16:88723279-88723279	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3793G>T; p.D1265Y; 16:88726550-88726550	pancreas	carcinoma	Substitution - Missense
c.414C>A; p.I138I; 16:88741529-88741529	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation