Entrez Gene

Basic Information
Gene ID	6660
Name	SOX5
Synonymous	SRY (sex determining region Y)-box 5;SOX5;SRY (sex determining region Y)-box 5
Definition	transcription factor SOX-5
Position	12p12.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.820C>T; p.Q274*; 12:23665555-23665555	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1498A>G; p.T500A; 12:23546415-23546415	liver	carcinoma	Substitution - Missense
c.471C>T; p.N157N; 12:23845993-23845993	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1165-2A>T; p.?; 12:23575840-23575840	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.850C>T; p.P284S; 12:23665525-23665525	skin	malignant_melanoma	Substitution - Missense
c.719_720TG>CT; p.L240P; 12:23740888-23740889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.57A>G; p.P19P; 12:23896006-23896006	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014G>T; p.L338L; 12:23640815-23640815	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630A>T; p.R544W; 12:23543352-23543352	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1036C>T; p.L346L; 12:23604515-23604515	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.1215T>G; p.D405E; 12:23575788-23575788	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1307C>T; p.A436V; 12:23575696-23575696	breast	carcinoma	Substitution - Missense
c.1203C>T; p.P401P; 12:23575800-23575800	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1177C>T; p.Q393*; 12:23575826-23575826	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.541G>A; p.G181R; 12:23755665-23755665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1419A>G; p.E473E; 12:23563327-23563327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1219A>G; p.K407E; 12:23575784-23575784	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.703C>T; p.R235C; 12:23740905-23740905	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.703C>T; p.R235C; 12:23740905-23740905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.389G>A; p.G130E; 12:23846075-23846075	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.788A>G; p.N263S; 12:23734706-23734706	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.1662C>T; p.P554P; 12:23543320-23543320	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.322A>T; p.T108S; 12:23846142-23846142	urinary_tract; bladder	carcinoma	Substitution - Missense
c.661G>A; p.D221N; 12:23740947-23740947	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2181G>T; p.Q727H; 12:23534330-23534330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.183G>T; p.K61N; 12:23895880-23895880	kidney	other; neoplasm	Substitution - Missense
c.1995A>C; p.Q665H; 12:23534516-23534516	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.116T>G; p.V39G; 12:23895947-23895947	breast	carcinoma	Substitution - Missense
c.2236C>T; p.P746S; 12:23534275-23534275	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.807C>T; p.I269I; 12:23734687-23734687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2236C>T; p.P746S; 12:23534275-23534275	skin	malignant_melanoma	Substitution - Missense
c.1564A>G; p.M522V; 12:23546349-23546349	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.807C>T; p.I269I; 12:23734687-23734687	breast	carcinoma	Substitution - coding silent
c.773A>G; p.Q258R; 12:23734721-23734721	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2283A>G; p.Q761Q; 12:23534228-23534228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1342+8C>A; p.?; 12:23575653-23575653	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1495_1496insA; p.T499fs*13; 12:23546417-23546418	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1213G>A; p.D405N; 12:23575790-23575790	breast	carcinoma	Substitution - Missense
c.1599A>T; p.G533G; 12:23543383-23543383	liver	carcinoma	Substitution - coding silent
c.1403A>C; p.E468A; 12:23563343-23563343	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1948C>T; p.R650C; 12:23536493-23536493	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1948C>T; p.R650C; 12:23536493-23536493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.726G>A; p.K242K; 12:23740882-23740882	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1692G>C; p.M564I; 12:23543290-23543290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1069C>G; p.L357V; 12:23604482-23604482	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1808_1809insC; p.Q603fs*5; 12:23536632-23536633	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1493A>C; p.K498T; 12:23546420-23546420	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.600G>A; p.R200R; 12:23741008-23741008	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1391G>A; p.R464Q; 12:23563355-23563355	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1611C>T; p.V537V; 12:23543371-23543371	skin	malignant_melanoma	Substitution - coding silent
c.547G>T; p.G183W; 12:23755659-23755659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1778G>A; p.R593H; 12:23536663-23536663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1109C>T; p.S370F; 12:23604442-23604442	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.222G>A; p.T74T; 12:23895841-23895841	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1417G>A; p.E473K; 12:23563329-23563329	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.844G>A; p.V282I; 12:23665531-23665531	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.699A>C; p.K233N; 12:23740909-23740909	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1754A>G; p.N585S; 12:23543228-23543228	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.842C>T; p.P281L; 12:23665533-23665533	skin	malignant_melanoma	Substitution - Missense
c.1276G>T; p.A426S; 12:23575727-23575727	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1168G>C; p.E390Q; 12:23575835-23575835	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1168G>C; p.E390Q; 12:23575835-23575835	pancreas	carcinoma	Substitution - Missense
c.397G>A; p.E133K; 12:23846067-23846067	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.946G>T; p.V316F; 12:23640883-23640883	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.477G>A; p.P159P; 12:23845987-23845987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1254A>G; p.P418P; 12:23575749-23575749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.428T>C; p.V143A; 12:23846036-23846036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1921C>T; p.R641C; 12:23536520-23536520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1402G>T; p.E468*; 12:23563344-23563344	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1308G>A; p.A436A; 12:23575695-23575695	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.641A>T; p.E214V; 12:23740967-23740967	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2184C>T; p.A728A; 12:23534327-23534327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.361G>A; p.G121S; 12:23846103-23846103	skin	malignant_melanoma	Substitution - Missense
c.2184C>T; p.A728A; 12:23534327-23534327	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1308G>A; p.A436A; 12:23575695-23575695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1633G>A; p.E545K; 12:23543349-23543349	skin; trunk	malignant_melanoma	Substitution - Missense
c.1404G>A; p.E468E; 12:23563342-23563342	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>T; p.A327A; 12:23640848-23640848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.641A>G; p.E214G; 12:23740967-23740967	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1275G>C; p.G425G; 12:23575728-23575728	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.835A>T; p.M279L; 12:23665540-23665540	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1782G>A; p.W594*; 12:23536659-23536659	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1253C>A; p.P418Q; 12:23575750-23575750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1253C>A; p.P418Q; 12:23575750-23575750	lung	carcinoma	Substitution - Missense
c.2206delT; p.Y736fs*13; 12:23534305-23534305	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1640G>A; p.R547Q; 12:23543342-23543342	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.672G>A; p.K224K; 12:23740936-23740936	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1640G>T; p.R547L; 12:23543342-23543342	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1640G>T; p.R547L; 12:23543342-23543342	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1423C>G; p.Q475E; 12:23563323-23563323	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1423C>G; p.Q475E; 12:23563323-23563323	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1297G>T; p.V433F; 12:23575706-23575706	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.950A>T; p.Q317L; 12:23640879-23640879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.245C>T; p.T82I; 12:23895818-23895818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1321T>C; p.S441P; 12:23575682-23575682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.574C>T; p.P192S; 12:23741034-23741034	skin	malignant_melanoma	Substitution - Missense
c.1127C>A; p.T376K; 12:23604424-23604424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.477_478GG>TA; p.E160K; 12:23845986-23845987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.921G>T; p.K307N; 12:23665454-23665454	large_intestine	adenoma	Substitution - Missense
c.1561G>A; p.A521T; 12:23546352-23546352	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.704G>A; p.R235H; 12:23740904-23740904	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.704G>A; p.R235H; 12:23740904-23740904	pancreas	carcinoma	Substitution - Missense
c.704G>A; p.R235H; 12:23740904-23740904	pancreas	carcinoma	Substitution - Missense
c.704G>A; p.R235H; 12:23740904-23740904	pancreas	carcinoma	Substitution - Missense
c.704G>A; p.R235H; 12:23740904-23740904	pancreas	carcinoma	Substitution - Missense
c.1848C>A; p.H616Q; 12:23536593-23536593	oesophagus	carcinoma	Substitution - Missense
c.188A>T; p.H63L; 12:23895875-23895875	breast	carcinoma	Substitution - Missense
c.193G>T; p.E65*; 12:23895870-23895870	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Nonsense
c.1102G>T; p.A368S; 12:23604449-23604449	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>A; p.E725K; 12:23534338-23534338	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.738A>C; p.E246D; 12:23740870-23740870	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1812_1814delATA; p.Y606delY; 12:23536627-23536629	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.27G>C; p.Q9H; 12:23949575-23949575	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.111G>T; p.Q37H; 12:23895952-23895952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854C>T; p.P285L; 12:23665521-23665521	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2282A>G; p.Q761R; 12:23534229-23534229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2283A>T; p.Q761H; 12:23534228-23534228	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.792G>T; p.L264F; 12:23734702-23734702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1164+2T>C; p.?; 12:23604385-23604385	liver	carcinoma	Unknown
c.610G>T; p.G204C; 12:23740998-23740998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.522A>G; p.K174K; 12:23755684-23755684	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1749C>T; p.N583N; 12:23543233-23543233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.221C>T; p.T74M; 12:23895842-23895842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2206T>C; p.Y736H; 12:23534305-23534305	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>T; p.T74M; 12:23895842-23895842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>T; p.T74M; 12:23895842-23895842	pancreas	carcinoma	Substitution - Missense
c.362G>T; p.G121V; 12:23846102-23846102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1372A>G; p.K458E; 12:23563374-23563374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.G643S; 12:23536514-23536514	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.811-1G>T; p.?; 12:23665565-23665565	oesophagus	carcinoma; adenocarcinoma	Unknown
c.777A>C; p.Q259H; 12:23734717-23734717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811-1G>T; p.?; 12:23665565-23665565	oesophagus	carcinoma; adenocarcinoma	Unknown
c.65C>A; p.P22Q; 12:23895998-23895998	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1776T>A; p.S592S; 12:23536665-23536665	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.141C>T; p.L47L; 12:23895922-23895922	skin	malignant_melanoma	Substitution - coding silent
c.1750T>G; p.S584A; 12:23543232-23543232	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.345A>T; p.E115D; 12:23846119-23846119	urinary_tract; bladder	carcinoma	Substitution - Missense
c.615G>C; p.M205I; 12:23740993-23740993	urinary_tract; bladder	carcinoma	Substitution - Missense
c.314A>G; p.N105S; 12:23846150-23846150	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.1916delA; p.K639fs*77; 12:23536525-23536525	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1938G>A; p.K646K; 12:23536503-23536503	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2114G>A; p.G705E; 12:23534397-23534397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1622G>C; p.R541T; 12:23543360-23543360	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.559G>A; p.E187K; 12:23755647-23755647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925G>A; p.G309R; 12:23665450-23665450	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1541A>T; p.E514V; 12:23546372-23546372	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1879C>A; p.P627T; 12:23536562-23536562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2044G>A; p.A682T; 12:23534467-23534467	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1543G>A; p.E515K; 12:23546370-23546370	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1110T>C; p.S370S; 12:23604441-23604441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2044G>A; p.A682T; 12:23534467-23534467	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.810G>A; p.Q270Q; 12:23734684-23734684	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>A; p.E390K; 12:23575835-23575835	urinary_tract; bladder	carcinoma	Substitution - Missense
c.284A>G; p.N95S; 12:23846180-23846180	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1988+5G>A; p.?; 12:23536448-23536448	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.97G>A; p.V33M; 12:23895966-23895966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1152A>C; p.P384P; 12:23604399-23604399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.187C>T; p.H63Y; 12:23895876-23895876	breast	carcinoma	Substitution - Missense
c.842_843CC>TT; p.P281L; 12:23665532-23665533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2046_2047CA>AT; p.M683L; 12:23534464-23534465	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1354G>T; p.D452Y; 12:23563392-23563392	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.233G>T; p.C78F; 12:23895830-23895830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1835T>G; p.L612R; 12:23536606-23536606	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1478G>T; p.R493L; 12:23563268-23563268	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.920A>T; p.K307M; 12:23665455-23665455	kidney	other; neoplasm	Substitution - Missense
c.1583G>C; p.S528T; 12:23546330-23546330	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1949G>A; p.R650H; 12:23536492-23536492	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.856G>A; p.D286N; 12:23665519-23665519	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1949G>A; p.R650H; 12:23536492-23536492	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.862C>T; p.R288W; 12:23665513-23665513	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.862C>T; p.R288W; 12:23665513-23665513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.271-9C>A; p.?; 12:23846202-23846202	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1969C>T; p.R657W; 12:23536472-23536472	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1969C>T; p.R657W; 12:23536472-23536472	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.271-9C>A; p.?; 12:23846202-23846202	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1411C>T; p.R471*; 12:23563335-23563335	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2143G>A; p.V715M; 12:23534368-23534368	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1531A>T; p.K511*; 12:23546382-23546382	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.448A>T; p.K150*; 12:23846016-23846016	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1531A>T; p.K511*; 12:23546382-23546382	skin	malignant_melanoma	Substitution - Nonsense
c.1885C>T; p.P629S; 12:23536556-23536556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1290A>T; p.K430N; 12:23575713-23575713	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.453G>A; p.M151I; 12:23846011-23846011	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1922G>A; p.R641H; 12:23536519-23536519	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2043C>T; p.I681I; 12:23534468-23534468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1922G>A; p.R641H; 12:23536519-23536519	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1922G>A; p.R641H; 12:23536519-23536519	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211T>C; p.S71P; 12:23895852-23895852	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.991C>T; p.P331S; 12:23640838-23640838	skin	malignant_melanoma	Substitution - Missense
c.827C>T; p.P276L; 12:23665548-23665548	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1258C>T; p.L420L; 12:23575745-23575745	breast	carcinoma	Substitution - coding silent
c.932-2A>T; p.?; 12:23640899-23640899	liver	carcinoma	Unknown
c.932-2A>T; p.?; 12:23640899-23640899	liver	carcinoma	Unknown
c.1787C>A; p.A596D; 12:23536654-23536654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.626T>A; p.L209Q; 12:23740982-23740982	skin	malignant_melanoma	Substitution - Missense
c.957C>A; p.I319I; 12:23640872-23640872	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.228G>A; p.E76E; 12:23895835-23895835	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1658A>G; p.E553G; 12:23543324-23543324	thyroid	carcinoma	Substitution - Missense
c.1643G>T; p.G548V; 12:23543339-23543339	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1403A>G; p.E468G; 12:23563343-23563343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1328G>C; p.R443T; 12:23575675-23575675	breast	carcinoma	Substitution - Missense
c.1517A>C; p.Q506P; 12:23546396-23546396	liver	carcinoma	Substitution - Missense
c.894C>T; p.F298F; 12:23665481-23665481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.636C>T; p.L212L; 12:23740972-23740972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.843C>T; p.P281P; 12:23665532-23665532	skin	malignant_melanoma	Substitution - coding silent
c.1108T>C; p.S370P; 12:23604443-23604443	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1108T>C; p.S370P; 12:23604443-23604443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.133G>T; p.D45Y; 12:23895930-23895930	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1884G>A; p.R628R; 12:23536557-23536557	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1020G>A; p.Q340Q; 12:23604531-23604531	liver	carcinoma	Substitution - coding silent
c.917A>G; p.Y306C; 12:23665458-23665458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.231T>G; p.T77T; 12:23895832-23895832	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1883G>T; p.R628M; 12:23536558-23536558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.841C>T; p.P281S; 12:23665534-23665534	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1718A>G; p.K573R; 12:23543264-23543264	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.750A>G; p.R250R; 12:23734744-23734744	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1718A>G; p.K573R; 12:23543264-23543264	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.709C>A; p.Q237K; 12:23740899-23740899	urinary_tract; bladder	carcinoma	Substitution - Missense
c.324C>A; p.T108T; 12:23846140-23846140	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2099G>A; p.S700N; 12:23534412-23534412	breast	carcinoma	Substitution - Missense
c.382G>T; p.A128S; 12:23846082-23846082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>A; p.R493Q; 12:23563268-23563268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>A; p.R493Q; 12:23563268-23563268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949C>A; p.Q317K; 12:23640880-23640880	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1257T>G; p.A419A; 12:23575746-23575746	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478G>A; p.R493Q; 12:23563268-23563268	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1478G>A; p.R493Q; 12:23563268-23563268	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.71G>A; p.G24E; 12:23895992-23895992	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.982G>A; p.A328T; 12:23640847-23640847	pancreas	carcinoma	Substitution - Missense
c.1063G>C; p.G355R; 12:23604488-23604488	pancreas	carcinoma	Substitution - Missense
c.1645C>T; p.R549C; 12:23543337-23543337	prostate	adenoma	Substitution - Missense
c.1063G>C; p.G355R; 12:23604488-23604488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>A; p.E122K; 12:23846100-23846100	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1765A>C; p.I589L; 12:23543217-23543217	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1303G>T; p.A435S; 12:23575700-23575700	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1890G>A; p.K630K; 12:23536551-23536551	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1646G>A; p.R549H; 12:23543336-23543336	pancreas	carcinoma	Substitution - Missense
c.363C>T; p.G121G; 12:23846101-23846101	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1127C>T; p.T376I; 12:23604424-23604424	pancreas	carcinoma	Substitution - Missense
c.779A>G; p.H260R; 12:23734715-23734715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2228A>T; p.E743V; 12:23534283-23534283	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>C; p.E158Q; 12:23845992-23845992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.391delA; p.T131fs*9; 12:23846073-23846073	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2177T>A; p.I726K; 12:23534334-23534334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1170A>C; p.E390D; 12:23575833-23575833	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1070T>G; p.L357R; 12:23604481-23604481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.56C>G; p.P19R; 12:23896007-23896007	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.551A>C; p.N184T; 12:23755655-23755655	stomach	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]