Entrez Gene

Basic Information
Gene ID	10395
Name	DLC1
Synonymous	DLC1 Rho GTPase activating protein;DLC1;DLC1 Rho GTPase activating protein
Definition	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
Position	8p22
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.08.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
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

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]