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	10395
Symbol	DLC1
Synonymous	ARHGAP7\|HP\|STARD12\|p122-RhoGAP
Full name	DLC1 Rho GTPase activating protein
Gene description	Rho-GTPase-activating protein 7\|START domain-containing protein 12\|StAR-related lipid transfer (START) domain containing 12\|deleted in liver cancer 1 protein\|deleted in liver cancer 1 variant 2\|rho GTPase-activating protein 7\|rho-type GTPase-activating pr
Cytoband	8p22
Gene type	protein-coding
Synonymous	MIM:604258; HGNC:HGNC:2897; Ensembl:ENSG00000164741; HPRD:05035; Vega:OTTHUMG00000090825

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.722C>A; p.P241H; 8:13499350-13499350	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2434G>A; p.D812N; 8:13099903-13099903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2152G>A; p.A718T; 8:13100185-13100185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2264C>T; p.T755M; 8:13100073-13100073	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2264C>T; p.T755M; 8:13100073-13100073	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3667A>G; p.T1223A; 8:13092685-13092685	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1560G>A; p.R520R; 8:13102796-13102796	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1818C>T; p.H606H; 8:13100519-13100519	skin	malignant_melanoma	Substitution - coding silent
c.2321T>A; p.M774K; 8:13100016-13100016	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.118T>A; p.L40M; 8:13499954-13499954	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.292C>A; p.L98I; 8:13499780-13499780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3500C>T; p.S1167L; 8:13094785-13094785	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.349G>T; p.A117S; 8:13499723-13499723	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3352G>A; p.V1118I; 8:13094933-13094933	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3074T>C; p.V1025A; 8:13098492-13098492	large_intestine; colon	carcinoma	Substitution - Missense
c.1296A>C; p.G432G; 8:13393571-13393571	thyroid	carcinoma	Substitution - coding silent
c.3074T>C; p.V1025A; 8:13098492-13098492	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4360G>A; p.A1454T; 8:13086396-13086396	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2933C>G; p.S978C; 8:13099404-13099404	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4235A>G; p.Y1412C; 8:13088544-13088544	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.548T>G; p.V183G; 8:13499524-13499524	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434G>A; p.G145D; 8:13499638-13499638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.367G>A; p.D123N; 8:13499705-13499705	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4580C>T; p.S1527F; 8:13085818-13085818	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.546A>T; p.K182N; 8:13499526-13499526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2287C>T; p.R763W; 8:13100050-13100050	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2714A>C; p.E905A; 8:13099623-13099623	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3362G>A; p.R1121Q; 8:13094923-13094923	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.686C>T; p.A229V; 8:13499386-13499386	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.855_856insC; p.N286fs*6; 8:13499216-13499217	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1065G>A; p.M355I; 8:13401578-13401578	skin; neck	malignant_melanoma	Substitution - Missense
c.3576G>T; p.L1192L; 8:13092776-13092776	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4046C>T; p.S1349L; 8:13090280-13090280	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1065G>A; p.M355I; 8:13401578-13401578	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 8:13500070-13500070	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4482A>G; p.E1494E; 8:13085916-13085916	liver	carcinoma	Substitution - coding silent
c.3568A>T; p.I1190F; 8:13092784-13092784	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2367C>A; p.N789K; 8:13099970-13099970	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1782C>T; p.V594V; 8:13100555-13100555	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3593G>A; p.R1198Q; 8:13092759-13092759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.984G>T; p.Q328H; 8:13499088-13499088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2519C>T; p.T840M; 8:13099818-13099818	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3875G>A; p.R1292Q; 8:13090451-13090451	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.G93D; 8:13499794-13499794	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1163G>A; p.R388Q; 8:13401480-13401480	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.428G>A; p.G143E; 8:13499644-13499644	skin	malignant_melanoma	Substitution - Missense
c.1427T>G; p.L476R; 8:13110817-13110817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.34G>T; p.E12*; 8:13500038-13500038	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.2572G>A; p.D858N; 8:13099765-13099765	pleura	pulmonary_blastoma	Substitution - Missense
c.2505T>A; p.S835S; 8:13099832-13099832	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2572G>A; p.D858N; 8:13099765-13099765	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1911C>T; p.F637F; 8:13100426-13100426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3983G>T; p.C1328F; 8:13090343-13090343	breast	carcinoma	Substitution - Missense
c.2607C>T; p.S869S; 8:13099730-13099730	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1911C>T; p.F637F; 8:13100426-13100426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1516T>G; p.L506V; 8:13102840-13102840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1926T>C; p.S642S; 8:13100411-13100411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2981G>T; p.R994M; 8:13099356-13099356	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.80G>A; p.R27H; 8:13499992-13499992	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2173A>G; p.N725D; 8:13100164-13100164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3914T>C; p.L1305P; 8:13090412-13090412	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1185A>G; p.S395S; 8:13393682-13393682	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3079C>T; p.Q1027*; 8:13098487-13098487	skin	malignant_melanoma	Substitution - Nonsense
c.3953C>T; p.S1318L; 8:13090373-13090373	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2736C>T; p.H912H; 8:13099601-13099601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2596C>T; p.R866C; 8:13099741-13099741	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1031G>A; p.R344K; 8:13401612-13401612	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2288G>A; p.R763Q; 8:13100049-13100049	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1963G>T; p.G655C; 8:13100374-13100374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2288G>A; p.R763Q; 8:13100049-13100049	liver	carcinoma	Substitution - Missense
c.93T>C; p.C31C; 8:13499979-13499979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1323A>C; p.Q441H; 8:13305294-13305294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.340G>T; p.D114Y; 8:13499732-13499732	oesophagus	carcinoma	Substitution - Missense
c.340G>T; p.D114Y; 8:13499732-13499732	ovary	carcinoma	Substitution - Missense
c.518C>A; p.A173E; 8:13499554-13499554	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.867A>T; p.S289S; 8:13499205-13499205	liver	carcinoma	Substitution - coding silent
c.1820C>T; p.A607V; 8:13100517-13100517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2265G>A; p.T755T; 8:13100072-13100072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1263C>T; p.D421D; 8:13393604-13393604	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4418G>A; p.C1473Y; 8:13086338-13086338	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3081G>A; p.Q1027Q; 8:13098485-13098485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.858T>A; p.N286K; 8:13499214-13499214	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2790G>A; p.E930E; 8:13099547-13099547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.638C>A; p.T213N; 8:13499434-13499434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.21G>A; p.K7K; 8:13500051-13500051	skin	malignant_melanoma	Substitution - coding silent
c.3018G>A; p.Q1006Q; 8:13098548-13098548	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2790G>A; p.E930E; 8:13099547-13099547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1724G>A; p.G575D; 8:13100613-13100613	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3188A>C; p.K1063T; 8:13095225-13095225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4003G>T; p.E1335*; 8:13090323-13090323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4003G>T; p.E1335*; 8:13090323-13090323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.851G>A; p.C284Y; 8:13499221-13499221	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4536G>A; p.R1512R; 8:13085862-13085862	ovary	other; neoplasm	Substitution - coding silent
c.1913G>T; p.G638V; 8:13100424-13100424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3585C>A; p.D1195E; 8:13092767-13092767	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2638G>A; p.D880N; 8:13099699-13099699	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.277G>T; p.G93C; 8:13499795-13499795	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2818G>A; p.V940I; 8:13099519-13099519	skin	malignant_melanoma	Substitution - Missense
c.3880C>A; p.R1294S; 8:13090446-13090446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2760C>A; p.V920V; 8:13099577-13099577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2840C>T; p.P947L; 8:13099497-13099497	skin	malignant_melanoma	Substitution - Missense
c.2062T>A; p.S688T; 8:13100275-13100275	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1530G>A; p.A510A; 8:13102826-13102826	breast	carcinoma	Substitution - coding silent
c.4554G>A; p.Q1518Q; 8:13085844-13085844	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1228C>T; p.R410*; 8:13393639-13393639	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1020A>G; p.R340R; 8:13499052-13499052	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1228C>T; p.R410*; 8:13393639-13393639	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3324T>A; p.D1108E; 8:13095089-13095089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.T417I; 8:13393617-13393617	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2806G>A; p.A936T; 8:13099531-13099531	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2644G>A; p.V882M; 8:13099693-13099693	skin	malignant_melanoma	Substitution - Missense
c.752A>G; p.N251S; 8:13499320-13499320	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3030G>A; p.R1010R; 8:13098536-13098536	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.752A>G; p.N251S; 8:13499320-13499320	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.303A>G; p.E101E; 8:13499769-13499769	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3345A>G; p.K1115K; 8:13094940-13094940	liver	carcinoma	Substitution - coding silent
c.1559G>T; p.R520L; 8:13102797-13102797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1559G>T; p.R520L; 8:13102797-13102797	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2367C>T; p.N789N; 8:13099970-13099970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174-1G>A; p.?; 8:13393694-13393694	ovary	carcinoma; serous_carcinoma	Unknown
c.2268C>A; p.P756P; 8:13100069-13100069	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3347_3348insA; p.V1118fs*13; 8:13094937-13094938	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.1560G>T; p.R520R; 8:13102796-13102796	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1892C>T; p.A631V; 8:13100445-13100445	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.454C>T; p.P152S; 8:13499618-13499618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1560G>T; p.R520R; 8:13102796-13102796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1892C>T; p.A631V; 8:13100445-13100445	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1315-4delT; p.?; 8:13305306-13305306	stomach	adenocarcinoma	Unknown
c.1051C>T; p.R351W; 8:13401592-13401592	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1051C>T; p.R351W; 8:13401592-13401592	prostate	carcinoma	Substitution - Missense
c.3891T>C; p.Y1297Y; 8:13090435-13090435	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3679G>A; p.V1227M; 8:13092673-13092673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1968C>T; p.H656H; 8:13100369-13100369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2536_2537CC>TT; p.P846F; 8:13099800-13099801	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2350C>T; p.Q784*; 8:13099987-13099987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3833C>G; p.A1278G; 8:13091340-13091340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3217C>T; p.R1073W; 8:13095196-13095196	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.666G>T; p.E222D; 8:13499406-13499406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1171C>T; p.P391S; 8:13401472-13401472	oesophagus	carcinoma	Substitution - Missense
c.2045G>A; p.S682N; 8:13100292-13100292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.666G>T; p.E222D; 8:13499406-13499406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3217C>T; p.R1073W; 8:13095196-13095196	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>A; p.M1I; 8:13500069-13500069	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1057G>A; p.D353N; 8:13401586-13401586	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2487delC; p.S830fs*7; 8:13099850-13099850	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2487delC; p.S830fs*7; 8:13099850-13099850	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2487delC; p.S830fs*7; 8:13099850-13099850	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.664G>A; p.E222K; 8:13499408-13499408	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>T; p.R338C; 8:13499060-13499060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1041A>T; p.R347R; 8:13401602-13401602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.911A>C; p.N304T; 8:13499161-13499161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3053T>C; p.L1018P; 8:13098513-13098513	thyroid	carcinoma	Substitution - Missense
c.1012C>T; p.R338C; 8:13499060-13499060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1573G>A; p.D525N; 8:13100764-13100764	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1792A>C; p.S598R; 8:13100545-13100545	haematopoietic_and_lymphoid_tissue; axilla	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3427G>A; p.A1143T; 8:13094858-13094858	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3450G>A; p.L1150L; 8:13094835-13094835	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2085C>T; p.S695S; 8:13100252-13100252	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3545G>A; p.R1182H; 8:13092807-13092807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3545G>A; p.R1182H; 8:13092807-13092807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2727C>T; p.I909I; 8:13099610-13099610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2395G>A; p.E799K; 8:13099942-13099942	NS	NS	Substitution - Missense
c.3442G>A; p.D1148N; 8:13094843-13094843	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2646G>T; p.V882V; 8:13099691-13099691	breast	carcinoma	Substitution - coding silent
c.37C>A; p.H13N; 8:13500035-13500035	skin	malignant_melanoma	Substitution - Missense
c.1504C>T; p.R502C; 8:13102852-13102852	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2882C>A; p.P961H; 8:13099455-13099455	breast	carcinoma	Substitution - Missense
c.1505G>A; p.R502H; 8:13102851-13102851	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.4567A>G; p.K1523E; 8:13085831-13085831	skin	malignant_melanoma	Substitution - Missense
c.3289C>G; p.Q1097E; 8:13095124-13095124	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4081G>A; p.E1361K; 8:13088698-13088698	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4273C>T; p.R1425*; 8:13088506-13088506	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3881G>A; p.R1294H; 8:13090445-13090445	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.875_876insA; p.N292fs*42; 8:13499196-13499197	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1770G>T; p.E590D; 8:13100567-13100567	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2730C>G; p.L910L; 8:13099607-13099607	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4058A>G; p.E1353G; 8:13090268-13090268	breast	carcinoma	Substitution - Missense
c.2146A>T; p.I716F; 8:13100191-13100191	breast	carcinoma	Substitution - Missense
c.168G>T; p.E56D; 8:13499904-13499904	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4010_4013delAAGA; p.K1337fs*22; 8:13090313-13090316	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1760A>T; p.E587V; 8:13100577-13100577	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3257G>A; p.R1086H; 8:13095156-13095156	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2698G>A; p.E900K; 8:13099639-13099639	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4417T>A; p.C1473S; 8:13086339-13086339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250G>A; p.V1084M; 8:13095163-13095163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2056G>T; p.A686S; 8:13100281-13100281	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.554A>G; p.D185G; 8:13499518-13499518	breast	carcinoma	Substitution - Missense
c.554A>G; p.D185G; 8:13499518-13499518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4541C>T; p.S1514F; 8:13085857-13085857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3866A>G; p.E1289G; 8:13090460-13090460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2960G>C; p.G987A; 8:13099377-13099377	breast	carcinoma	Substitution - Missense
c.3170C>T; p.A1057V; 8:13095243-13095243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4207G>A; p.E1403K; 8:13088572-13088572	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4003G>A; p.E1335K; 8:13090323-13090323	liver	carcinoma	Substitution - Missense
c.3883A>G; p.N1295D; 8:13090443-13090443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2080A>G; p.I694V; 8:13100257-13100257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1797C>A; p.S599R; 8:13100540-13100540	liver	carcinoma	Substitution - Missense
c.3831C>T; p.I1277I; 8:13091342-13091342	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1548T>G; p.I516M; 8:13102808-13102808	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1797C>A; p.S599R; 8:13100540-13100540	liver	carcinoma	Substitution - Missense
c.2233_2235delAGC; p.S745delS; 8:13100102-13100104	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.1716G>A; p.P572P; 8:13100621-13100621	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3348_3349insA; p.G1117fs*14; 8:13094936-13094937	pancreas	carcinoma	Insertion - Frameshift
c.2233_2235delAGC; p.S745delS; 8:13100102-13100104	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.1951T>C; p.F651L; 8:13100386-13100386	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3741-10T>C; p.?; 8:13091442-13091442	stomach	carcinoma; adenocarcinoma	Unknown
c.2233_2235delAGC; p.S745delS; 8:13100102-13100104	NS	malignant_melanoma	Deletion - In frame
c.1716G>A; p.P572P; 8:13100621-13100621	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4529A>C; p.K1510T; 8:13085869-13085869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233_2235delAGC; p.S745delS; 8:13100102-13100104	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.3741-10T>C; p.?; 8:13091442-13091442	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1153A>G; p.N385D; 8:13401490-13401490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1810C>T; p.P604S; 8:13100527-13100527	skin	malignant_melanoma	Substitution - Missense
c.1807C>A; p.L603I; 8:13100530-13100530	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3874C>T; p.R1292*; 8:13090452-13090452	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2692G>T; p.E898*; 8:13099645-13099645	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.200G>A; p.G67E; 8:13499872-13499872	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3855+1G>A; p.?; 8:13091317-13091317	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1395C>T; p.F465F; 8:13115611-13115611	skin	malignant_melanoma	Substitution - coding silent
c.1313C>T; p.T438M; 8:13393554-13393554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.340G>A; p.D114N; 8:13499732-13499732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3328G>T; p.V1110F; 8:13094957-13094957	pancreas	carcinoma	Substitution - Missense
c.321A>G; p.L107L; 8:13499751-13499751	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3532C>T; p.P1178S; 8:13092820-13092820	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2104G>T; p.G702W; 8:13100233-13100233	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3887C>A; p.S1296Y; 8:13090439-13090439	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733C>T; p.P578L; 8:13100604-13100604	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1196G>A; p.S399N; 8:13393671-13393671	ovary	other; neoplasm	Substitution - Missense
c.2794G>A; p.D932N; 8:13099543-13099543	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.503G>A; p.G168D; 8:13499569-13499569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3808A>T; p.T1270S; 8:13091365-13091365	thyroid	carcinoma	Substitution - Missense
c.1305C>A; p.P435P; 8:13393562-13393562	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4070_4071insA; p.K1358fs*16; 8:13090255-13090256	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.1339G>A; p.E447K; 8:13305278-13305278	skin	malignant_melanoma	Substitution - Missense
c.3256C>T; p.R1086C; 8:13095157-13095157	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.523G>A; p.V175I; 8:13499549-13499549	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1039C>T; p.R347*; 8:13401604-13401604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1039C>T; p.R347*; 8:13401604-13401604	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1861G>A; p.V621I; 8:13100476-13100476	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.711A>G; p.K237K; 8:13499361-13499361	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039C>T; p.R347*; 8:13401604-13401604	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.942T>C; p.D314D; 8:13499130-13499130	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.711A>G; p.K237K; 8:13499361-13499361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.835C>T; p.L279L; 8:13499237-13499237	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.241C>T; p.L81F; 8:13499831-13499831	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.558T>A; p.S186S; 8:13499514-13499514	kidney	other; neoplasm	Substitution - coding silent
c.3376C>T; p.R1126C; 8:13094909-13094909	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1624A>T; p.R542W; 8:13100713-13100713	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4357C>T; p.R1453C; 8:13086399-13086399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4357C>T; p.R1453C; 8:13086399-13086399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4064C>T; p.S1355F; 8:13090262-13090262	skin	malignant_melanoma	Substitution - Missense
c.3999T>G; p.F1333L; 8:13090327-13090327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.435C>A; p.G145G; 8:13499637-13499637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.182T>C; p.L61P; 8:13499890-13499890	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.E177K; 8:13499543-13499543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1310C>A; p.T437N; 8:13393557-13393557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1049C>A; p.A350E; 8:13401594-13401594	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3168G>T; p.W1056C; 8:13095245-13095245	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3298C>T; p.R1100*; 8:13095115-13095115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4238A>G; p.Q1413R; 8:13088541-13088541	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.710A>G; p.K237R; 8:13499362-13499362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4274G>A; p.R1425Q; 8:13088505-13088505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1304C>T; p.P435L; 8:13393563-13393563	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2637C>T; p.Y879Y; 8:13099700-13099700	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4084G>T; p.G1362*; 8:13088695-13088695	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4274G>A; p.R1425Q; 8:13088505-13088505	pancreas	NS	Substitution - Missense
c.708G>A; p.R236R; 8:13499364-13499364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4340C>T; p.T1447I; 8:13086416-13086416	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.139G>A; p.D47N; 8:13499933-13499933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4340C>T; p.T1447I; 8:13086416-13086416	stomach	adenocarcinoma	Substitution - Missense
c.2454C>T; p.F818F; 8:13099883-13099883	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.393A>G; p.Q131Q; 8:13499679-13499679	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.265G>T; p.D89Y; 8:13499807-13499807	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2217G>A; p.Q739Q; 8:13100120-13100120	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.265G>T; p.D89Y; 8:13499807-13499807	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.693T>G; p.I231M; 8:13499379-13499379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2079C>G; p.I693M; 8:13100258-13100258	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2674G>A; p.G892R; 8:13099663-13099663	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1228_1229CG>TT; p.R410L; 8:13393638-13393639	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2497A>G; p.N833D; 8:13099840-13099840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2537C>A; p.P846H; 8:13099800-13099800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2292C>A; p.S764R; 8:13100045-13100045	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4294A>G; p.T1432A; 8:13086462-13086462	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.842C>A; p.P281H; 8:13499230-13499230	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4152C>T; p.R1384R; 8:13088627-13088627	prostate	carcinoma	Substitution - coding silent
c.878G>A; p.G293D; 8:13499194-13499194	breast	carcinoma	Substitution - Missense
c.4468G>C; p.G1490R; 8:13085930-13085930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4448T>C; p.M1483T; 8:13086308-13086308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2109G>T; p.M703I; 8:13100228-13100228	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4358G>C; p.R1453P; 8:13086398-13086398	liver	carcinoma	Substitution - Missense
c.4358G>C; p.R1453P; 8:13086398-13086398	liver	carcinoma	Substitution - Missense
c.2679C>A; p.D893E; 8:13099658-13099658	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1821G>T; p.A607A; 8:13100516-13100516	thyroid	other; neoplasm	Substitution - coding silent
c.3880C>T; p.R1294C; 8:13090446-13090446	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3880C>T; p.R1294C; 8:13090446-13090446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3880C>T; p.R1294C; 8:13090446-13090446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1821G>T; p.A607A; 8:13100516-13100516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1821G>T; p.A607A; 8:13100516-13100516	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2355A>C; p.S785S; 8:13099982-13099982	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.897T>C; p.F299F; 8:13499175-13499175	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>G; p.R347R; 8:13401602-13401602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>G; p.R347R; 8:13401602-13401602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>G; p.R347R; 8:13401602-13401602	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>G; p.R347R; 8:13401602-13401602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>G; p.R347R; 8:13401602-13401602	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4545C>G; p.F1515L; 8:13085853-13085853	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.677T>G; p.L226R; 8:13499395-13499395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>A; p.G464S; 8:13115616-13115616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3560A>C; p.K1187T; 8:13092792-13092792	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3560A>C; p.K1187T; 8:13092792-13092792	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3560A>C; p.K1187T; 8:13092792-13092792	large_intestine; colon	carcinoma	Substitution - Missense
c.3560A>C; p.K1187T; 8:13092792-13092792	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1776T>A; p.S592S; 8:13100561-13100561	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.157G>T; p.D53Y; 8:13499915-13499915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1949G>A; p.S650N; 8:13100388-13100388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.107T>C; p.V36A; 8:13499965-13499965	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1849delC; p.R617fs*37; 8:13100488-13100488	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2406A>C; p.P802P; 8:13099931-13099931	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.107T>C; p.V36A; 8:13499965-13499965	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1623A>G; p.Q541Q; 8:13100714-13100714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2483C>T; p.S828F; 8:13099854-13099854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1704C>T; p.D568D; 8:13100633-13100633	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3861C>T; p.P1287P; 8:13090465-13090465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1859C>T; p.S620F; 8:13100478-13100478	skin	malignant_melanoma	Substitution - Missense
c.3070_3071insA; p.S1024fs*27; 8:13098495-13098496	breast	carcinoma	Insertion - Frameshift
c.1859C>T; p.S620F; 8:13100478-13100478	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1859C>T; p.S620F; 8:13100478-13100478	skin	malignant_melanoma	Substitution - Missense
c.572T>C; p.L191P; 8:13499500-13499500	skin	malignant_melanoma	Substitution - Missense
c.1319T>C; p.I440T; 8:13305298-13305298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>A; p.Q367K; 8:13401544-13401544	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1531G>T; p.V511L; 8:13102825-13102825	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.258C>T; p.D86D; 8:13499814-13499814	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3348G>T; p.S1116S; 8:13094937-13094937	oesophagus	carcinoma	Substitution - coding silent
c.2394C>T; p.R798R; 8:13099943-13099943	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3864G>A; p.E1288E; 8:13090462-13090462	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3892A>G; p.T1298A; 8:13090434-13090434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>A; p.Q155K; 8:13499609-13499609	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>T; p.R347L; 8:13401603-13401603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1272T>G; p.S424S; 8:13393595-13393595	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1656G>C; p.E552D; 8:13100681-13100681	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3435C>T; p.D1145D; 8:13094850-13094850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3435C>T; p.D1145D; 8:13094850-13094850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.517G>T; p.A173S; 8:13499555-13499555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1778C>T; p.S593F; 8:13100559-13100559	skin	malignant_melanoma	Substitution - Missense
c.4075-1G>C; p.?; 8:13088705-13088705	pancreas	carcinoid-endocrine_tumour; islet_cell	Unknown
c.517G>T; p.A173S; 8:13499555-13499555	liver	carcinoma	Substitution - Missense
c.517G>T; p.A173S; 8:13499555-13499555	liver	carcinoma	Substitution - Missense
c.241C>G; p.L81V; 8:13499831-13499831	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.241C>G; p.L81V; 8:13499831-13499831	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.745A>C; p.T249P; 8:13499327-13499327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2816C>T; p.S939L; 8:13099521-13099521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.325C>T; p.H109Y; 8:13499747-13499747	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1002A>C; p.Q334H; 8:13499070-13499070	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.D112N; 8:13499738-13499738	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.334G>A; p.D112N; 8:13499738-13499738	urinary_tract; bladder	carcinoma	Substitution - Missense
c.161G>A; p.R54H; 8:13499911-13499911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1644C>T; p.S548S; 8:13100693-13100693	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2009G>C; p.R670P; 8:13100328-13100328	central_nervous_system; brain	glioma	Substitution - Missense
c.2772G>A; p.S924S; 8:13099565-13099565	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2868C>T; p.N956N; 8:13099469-13099469	pancreas	carcinoma	Substitution - coding silent
c.3463C>T; p.R1155*; 8:13094822-13094822	skin	malignant_melanoma	Substitution - Nonsense
c.2868C>T; p.N956N; 8:13099469-13099469	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3463C>T; p.R1155*; 8:13094822-13094822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2772G>A; p.S924S; 8:13099565-13099565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2772G>A; p.S924S; 8:13099565-13099565	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.520C>T; p.L174L; 8:13499552-13499552	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2868C>T; p.N956N; 8:13099469-13099469	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3463C>T; p.R1155*; 8:13094822-13094822	skin	malignant_melanoma	Substitution - Nonsense
c.1969G>A; p.E657K; 8:13100368-13100368	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2468C>T; p.T823I; 8:13099869-13099869	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3416A>G; p.E1139G; 8:13094869-13094869	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3893C>T; p.T1298I; 8:13090433-13090433	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4150C>T; p.R1384C; 8:13088629-13088629	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4150C>T; p.R1384C; 8:13088629-13088629	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4150C>T; p.R1384C; 8:13088629-13088629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.404C>A; p.T135K; 8:13499668-13499668	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2943G>A; p.P981P; 8:13099394-13099394	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2830C>A; p.P944T; 8:13099507-13099507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.305C>A; p.A102D; 8:13499767-13499767	breast	carcinoma	Substitution - Missense
c.3606G>C; p.Q1202H; 8:13092746-13092746	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4269T>G; p.P1423P; 8:13088510-13088510	central_nervous_system; brain	glioma	Substitution - coding silent
c.1850G>A; p.R617Q; 8:13100487-13100487	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3554C>T; p.A1185V; 8:13092798-13092798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3554C>T; p.A1185V; 8:13092798-13092798	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617Q; 8:13100487-13100487	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2571C>T; p.S857S; 8:13099766-13099766	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2571C>T; p.S857S; 8:13099766-13099766	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1993C>T; p.R665C; 8:13100344-13100344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2721C>A; p.D907E; 8:13099616-13099616	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.2571C>T; p.S857S; 8:13099766-13099766	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2872C>T; p.R958*; 8:13099465-13099465	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4325G>T; p.C1442F; 8:13086431-13086431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>A; p.E180K; 8:13499534-13499534	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>A; p.E180K; 8:13499534-13499534	skin	malignant_melanoma	Substitution - Missense
c.306C>T; p.A102A; 8:13499766-13499766	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3488C>T; p.T1163M; 8:13094797-13094797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4170C>T; p.H1390H; 8:13088609-13088609	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2832G>A; p.P944P; 8:13099505-13099505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1744C>T; p.L582L; 8:13100593-13100593	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.427G>A; p.G143R; 8:13499645-13499645	liver	carcinoma	Substitution - Missense
c.2212A>T; p.T738S; 8:13100125-13100125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1913G>A; p.G638D; 8:13100424-13100424	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3163A>G; p.S1055G; 8:13098403-13098403	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1932_1933GG>AT; p.E645*; 8:13100404-13100405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2857G>A; p.D953N; 8:13099480-13099480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1472delT; p.L491fs*13; 8:13110772-13110772	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1472delT; p.L491fs*13; 8:13110772-13110772	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.711A>T; p.K237N; 8:13499361-13499361	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3374T>C; p.L1125P; 8:13094911-13094911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.709A>G; p.K237E; 8:13499363-13499363	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3546C>A; p.R1182R; 8:13092806-13092806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2058G>A; p.A686A; 8:13100279-13100279	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2393G>A; p.R798H; 8:13099944-13099944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2058G>A; p.A686A; 8:13100279-13100279	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2058G>A; p.A686A; 8:13100279-13100279	pancreas	carcinoma	Substitution - coding silent
c.174T>C; p.C58C; 8:13499898-13499898	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2952G>A; p.R984R; 8:13099385-13099385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.709A>G; p.K237E; 8:13499363-13499363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2712C>T; p.P904P; 8:13099625-13099625	breast	carcinoma	Substitution - coding silent
c.56G>T; p.G19V; 8:13500016-13500016	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2712C>T; p.P904P; 8:13099625-13099625	skin	malignant_melanoma	Substitution - coding silent
c.3347C>T; p.S1116L; 8:13094938-13094938	NS	malignant_melanoma	Substitution - Missense
c.3350G>A; p.G1117E; 8:13094935-13094935	skin	malignant_melanoma	Substitution - Missense
c.2500G>A; p.G834S; 8:13099837-13099837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.522G>T; p.L174L; 8:13499550-13499550	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1869C>T; p.S623S; 8:13100468-13100468	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1869C>T; p.S623S; 8:13100468-13100468	breast	carcinoma	Substitution - coding silent
c.2935G>A; p.E979K; 8:13099402-13099402	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1555C>G; p.H519D; 8:13102801-13102801	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4359C>T; p.R1453R; 8:13086397-13086397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4359C>T; p.R1453R; 8:13086397-13086397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1849C>T; p.R617W; 8:13100488-13100488	pancreas	carcinoma	Substitution - Missense
c.2231G>C; p.S744T; 8:13100106-13100106	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1826C>A; p.P609H; 8:13100511-13100511	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2231G>C; p.S744T; 8:13100106-13100106	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3906G>A; p.L1302L; 8:13090420-13090420	oesophagus	carcinoma	Substitution - coding silent
c.4117G>A; p.E1373K; 8:13088662-13088662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2542C>T; p.H848Y; 8:13099795-13099795	skin	malignant_melanoma	Substitution - Missense
c.3466G>T; p.D1156Y; 8:13094819-13094819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1559G>A; p.R520Q; 8:13102797-13102797	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3084G>A; p.M1028I; 8:13098482-13098482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3892A>T; p.T1298S; 8:13090434-13090434	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2624G>A; p.R875H; 8:13099713-13099713	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4535G>A; p.R1512Q; 8:13085863-13085863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3870G>T; p.M1290I; 8:13090456-13090456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3821C>G; p.A1274G; 8:13091352-13091352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2499C>T; p.N833N; 8:13099838-13099838	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4535G>A; p.R1512Q; 8:13085863-13085863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1997G>A; p.S666N; 8:13100340-13100340	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3289C>T; p.Q1097*; 8:13095124-13095124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2222G>C; p.S741T; 8:13100115-13100115	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2532C>T; p.H844H; 8:13099805-13099805	pancreas	carcinoma	Substitution - coding silent
c.2222G>C; p.S741T; 8:13100115-13100115	thyroid	carcinoma	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	central_nervous_system; brain	glioma	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	thyroid	carcinoma	Substitution - Missense
c.2532C>T; p.H844H; 8:13099805-13099805	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2222G>C; p.S741T; 8:13100115-13100115	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2222G>C; p.S741T; 8:13100115-13100115	skin	malignant_melanoma	Substitution - Missense
c.2968G>T; p.A990S; 8:13099369-13099369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1877C>T; p.S626F; 8:13100460-13100460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3205G>C; p.D1069H; 8:13095208-13095208	breast	carcinoma	Substitution - Missense
c.1049C>T; p.A350V; 8:13401594-13401594	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1049C>T; p.A350V; 8:13401594-13401594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2389A>T; p.N797Y; 8:13099948-13099948	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1049C>T; p.A350V; 8:13401594-13401594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3838T>C; p.C1280R; 8:13091335-13091335	prostate	carcinoma	Substitution - Missense
c.838C>T; p.Q280*; 8:13499234-13499234	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1758C>A; p.S586R; 8:13100579-13100579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1700C>T; p.P567L; 8:13100637-13100637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1241C>A; p.S414Y; 8:13393626-13393626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4417T>C; p.C1473R; 8:13086339-13086339	pancreas	carcinoma	Substitution - Missense
c.4417T>C; p.C1473R; 8:13086339-13086339	pancreas	carcinoma	Substitution - Missense
c.4417T>C; p.C1473R; 8:13086339-13086339	pancreas	carcinoma	Substitution - Missense
c.4530G>A; p.K1510K; 8:13085868-13085868	pancreas	carcinoma	Substitution - coding silent
c.3784G>T; p.D1262Y; 8:13091389-13091389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2914A>G; p.N972D; 8:13099423-13099423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>A; p.R410Q; 8:13393638-13393638	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>T; p.S156I; 8:13499605-13499605	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3180G>A; p.K1060K; 8:13095233-13095233	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2371G>A; p.V791M; 8:13099966-13099966	thyroid	other; neoplasm	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.V791M; 8:13099966-13099966	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.160C>T; p.R54C; 8:13499912-13499912	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4453A>C; p.R1485R; 8:13086303-13086303	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.160C>T; p.R54C; 8:13499912-13499912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.160C>T; p.R54C; 8:13499912-13499912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3862G>A; p.E1288K; 8:13090464-13090464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.160C>T; p.R54C; 8:13499912-13499912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.88G>T; p.A30S; 8:13499984-13499984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2144A>G; p.E715G; 8:13100193-13100193	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1050G>A; p.A350A; 8:13401593-13401593	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.81T>C; p.R27R; 8:13499991-13499991	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.704G>T; p.R235L; 8:13499368-13499368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1050G>A; p.A350A; 8:13401593-13401593	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3981C>G; p.D1327E; 8:13090345-13090345	skin	malignant_melanoma	Substitution - Missense
c.4416C>A; p.P1472P; 8:13086340-13086340	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2312G>A; p.R771Q; 8:13100025-13100025	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1784G>A; p.R595H; 8:13100553-13100553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1321C>T; p.Q441*; 8:13305296-13305296	skin	malignant_melanoma	Substitution - Nonsense
c.4157T>C; p.L1386P; 8:13088622-13088622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2338G>T; p.D780Y; 8:13099999-13099999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2993A>G; p.H998R; 8:13098573-13098573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation