Entrez Gene

Basic Information
Gene ID	3482
Name	IGF2R
Synonymous	insulin-like growth factor 2 receptor;IGF2R;insulin-like growth factor 2 receptor
Definition	300 kDa mannose 6-phosphate receptor\|CI Man-6-P receptor\|CI-MPR\|IGF-II receptor\|M6P/IGF2 receptor\|M6P/IGF2R\|M6PR\|MPR 300\|cation-independent mannose-6 phosphate receptor\|cation-independent mannose-6-phosphate receptor\|insulin-like growth factor II receptor
Position	6q26
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 0.13.

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.2256C>T; p.F752F; 6:160047818-160047818	skin	malignant_melanoma	Substitution - coding silent
c.2128A>G; p.R710G; 6:160047235-160047235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.891T>C; p.I297I; 6:160032559-160032559	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3282C>T; p.Y1094Y; 6:160061522-160061522	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3220G>A; p.A1074T; 6:160060675-160060675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6530T>A; p.L2177H; 6:160089978-160089978	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3222G>A; p.A1074A; 6:160060677-160060677	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5862A>G; p.I1954M; 6:160083978-160083978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3803A>T; p.D1268V; 6:160063547-160063547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5798A>G; p.Y1933C; 6:160080240-160080240	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5434C>A; p.L1812I; 6:160078318-160078318	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.6384G>A; p.K2128K; 6:160089170-160089170	breast	carcinoma	Substitution - coding silent
c.2669A>G; p.H890R; 6:160050627-160050627	liver	carcinoma	Substitution - Missense
c.587A>G; p.Y196C; 6:160024645-160024645	pancreas	carcinoma; solid_pseudopapillary_carcinoma	Substitution - Missense
c.7068G>A; p.V2356V; 6:160104676-160104676	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6921C>T; p.G2307G; 6:160102597-160102597	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6921C>T; p.G2307G; 6:160102597-160102597	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7258A>C; p.K2420Q; 6:160104866-160104866	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.822T>C; p.F274F; 6:160029595-160029595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5700C>T; p.G1900G; 6:160080142-160080142	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7030_7032delAGG; p.R2345delR; 6:160103780-160103782	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.6678T>A; p.F2226L; 6:160096461-160096461	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5768C>T; p.A1923V; 6:160080210-160080210	central_nervous_system; brain	glioma	Substitution - Missense
c.7030_7032delAGG; p.R2345delR; 6:160103780-160103782	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.4186G>T; p.G1396W; 6:160068319-160068319	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5768C>T; p.A1923V; 6:160080210-160080210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2676C>T; p.V892V; 6:160050634-160050634	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5881G>A; p.E1961K; 6:160083997-160083997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6762C>T; p.D2254D; 6:160096545-160096545	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3582G>A; p.S1194S; 6:160061928-160061928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3863C>T; p.P1288L; 6:160063607-160063607	skin	malignant_melanoma	Substitution - Missense
c.5685A>G; p.P1895P; 6:160079786-160079786	liver	carcinoma	Substitution - coding silent
c.5685A>G; p.P1895P; 6:160079786-160079786	liver	carcinoma	Substitution - coding silent
c.4504A>G; p.T1502A; 6:160071970-160071970	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5530G>A; p.G1844R; 6:160079631-160079631	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1479A>C; p.A493A; 6:160040723-160040723	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3054C>A; p.F1018L; 6:160059061-160059061	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5530G>A; p.G1844R; 6:160079631-160079631	prostate	carcinoma	Substitution - Missense
c.629A>T; p.N210I; 6:160024687-160024687	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4500G>A; p.W1500*; 6:160071966-160071966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1248A>T; p.G416G; 6:160034455-160034455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5485C>T; p.R1829C; 6:160079586-160079586	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4446C>G; p.N1482K; 6:160071912-160071912	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.7181A>T; p.K2394M; 6:160104789-160104789	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4066C>T; p.R1356*; 6:160064852-160064852	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6370G>A; p.A2124T; 6:160089156-160089156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2496G>A; p.M832I; 6:160048525-160048525	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4066C>T; p.R1356*; 6:160064852-160064852	stomach	adenocarcinoma	Substitution - Nonsense
c.3076C>T; p.P1026S; 6:160059083-160059083	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6370G>A; p.A2124T; 6:160089156-160089156	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4275C>T; p.A1425A; 6:160069890-160069890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5896C>T; p.P1966S; 6:160084012-160084012	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5305G>T; p.G1769C; 6:160075985-160075985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1545C>T; p.F515F; 6:160043212-160043212	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5288C>T; p.A1763V; 6:160075968-160075968	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5288C>T; p.A1763V; 6:160075968-160075968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3395C>T; p.P1132L; 6:160061635-160061635	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639G>A; p.G880D; 6:160050597-160050597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5288C>T; p.A1763V; 6:160075968-160075968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6738C>T; p.F2246F; 6:160096521-160096521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3096C>T; p.T1032T; 6:160060551-160060551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6738C>T; p.F2246F; 6:160096521-160096521	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5205A>G; p.P1735P; 6:160075885-160075885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.271C>G; p.R91G; 6:159991305-159991305	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2345+2T>C; p.?; 6:160047909-160047909	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.4079C>T; p.A1360V; 6:160064865-160064865	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3268G>A; p.A1090T; 6:160061508-160061508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3264C>T; p.D1088D; 6:160061504-160061504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3673G>T; p.D1225Y; 6:160063417-160063417	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5106C>T; p.H1702H; 6:160073915-160073915	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.996C>T; p.G332G; 6:160032664-160032664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4533C>T; p.N1511N; 6:160071999-160071999	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.5916G>A; p.V1972V; 6:160084032-160084032	liver	carcinoma	Substitution - coding silent
c.2097A>G; p.S699S; 6:160047204-160047204	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.318A>G; p.R106R; 6:160009038-160009038	parathyroid	carcinoma	Substitution - coding silent
c.5650G>A; p.V1884I; 6:160079751-160079751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5641G>C; p.E1881Q; 6:160079742-160079742	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5107G>A; p.G1703R; 6:160073916-160073916	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4914_4916delCTC; p.S1639delS; 6:160073436-160073438	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.3488C>T; p.A1163V; 6:160061834-160061834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3974G>A; p.R1325H; 6:160064488-160064488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3181delG; p.Q1062fs*35; 6:160060636-160060636	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.272G>A; p.R91H; 6:159991306-159991306	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91H; 6:159991306-159991306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.777-6T>C; p.?; 6:160029544-160029544	pancreas	carcinoma	Unknown
c.3622G>A; p.V1208M; 6:160062571-160062571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5699G>A; p.G1900D; 6:160080141-160080141	skin	malignant_melanoma	Substitution - Missense
c.1606G>A; p.A536T; 6:160043273-160043273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7423A>T; p.T2475S; 6:160105031-160105031	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5961C>T; p.C1987C; 6:160084077-160084077	skin	malignant_melanoma	Substitution - coding silent
c.2213G>A; p.G738D; 6:160047320-160047320	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5131G>A; p.A1711T; 6:160073940-160073940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5568T>C; p.C1856C; 6:160079669-160079669	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4432G>A; p.E1478K; 6:160070047-160070047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3309G>C; p.R1103S; 6:160061549-160061549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4614C>A; p.F1538L; 6:160072808-160072808	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1812T>C; p.G604G; 6:160045791-160045791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5568T>C; p.C1856C; 6:160079669-160079669	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3382C>T; p.L1128F; 6:160061622-160061622	skin	malignant_melanoma	Substitution - Missense
c.5845C>T; p.R1949W; 6:160083961-160083961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647-1G>A; p.?; 6:160027184-160027184	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7436C>T; p.S2479F; 6:160105044-160105044	skin	malignant_melanoma	Substitution - Missense
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2622C>A; p.A874A; 6:160050580-160050580	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5018A>T; p.Y1673F; 6:160073827-160073827	pancreas	carcinoma	Substitution - Missense
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6104G>A; p.G2035E; 6:160085030-160085030	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2040G>A; p.Q680Q; 6:160046634-160046634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.421C>T; p.P141S; 6:160010693-160010693	skin	malignant_melanoma	Substitution - Missense
c.1209C>T; p.L403L; 6:160033105-160033105	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6343_6344insA; p.Y2115fs*1; 6:160089129-160089130	NS	malignant_melanoma	Insertion - Frameshift
c.5992C>A; p.Q1998K; 6:160084108-160084108	prostate	adenoma	Substitution - Missense
c.6707A>C; p.K2236T; 6:160096490-160096490	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2780C>T; p.T927M; 6:160056509-160056509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5917C>T; p.R1973C; 6:160084033-160084033	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4002C>A; p.D1334E; 6:160064516-160064516	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3973C>T; p.R1325C; 6:160064487-160064487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>T; p.L474L; 6:160040666-160040666	breast	carcinoma	Substitution - coding silent
c.4959C>T; p.S1653S; 6:160073768-160073768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5400G>C; p.R1800S; 6:160078284-160078284	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3507C>T; p.I1169I; 6:160061853-160061853	breast	carcinoma	Substitution - coding silent
c.5400G>C; p.R1800S; 6:160078284-160078284	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2561A>C; p.K854T; 6:160050519-160050519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2718C>G; p.L906L; 6:160056447-160056447	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2840T>G; p.L947R; 6:160058066-160058066	liver	carcinoma	Substitution - Missense
c.6673G>A; p.V2225M; 6:160096456-160096456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2565C>T; p.T855T; 6:160050523-160050523	skin	malignant_melanoma	Substitution - coding silent
c.4311C>T; p.L1437L; 6:160069926-160069926	skin	malignant_melanoma	Substitution - coding silent
c.6737T>C; p.F2246S; 6:160096520-160096520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5799C>T; p.Y1933Y; 6:160080241-160080241	skin	malignant_melanoma	Substitution - coding silent
c.6756G>A; p.V2252V; 6:160096539-160096539	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2728T>C; p.C910R; 6:160056457-160056457	skin	malignant_melanoma	Substitution - Missense
c.5846G>A; p.R1949Q; 6:160083962-160083962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4451G>T; p.R1484M; 6:160071917-160071917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2879G>C; p.G960A; 6:160058105-160058105	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3112G>A; p.V1038I; 6:160060567-160060567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1480G>T; p.E494*; 6:160040724-160040724	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4078G>A; p.A1360T; 6:160064864-160064864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.766C>T; p.R256C; 6:160027304-160027304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5490C>A; p.D1830E; 6:160079591-160079591	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3650G>T; p.C1217F; 6:160062599-160062599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6987G>C; p.K2329N; 6:160102663-160102663	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4116-1G>A; p.?; 6:160068248-160068248	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2328G>A; p.E776E; 6:160047890-160047890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2328G>A; p.E776E; 6:160047890-160047890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6127G>A; p.A2043T; 6:160085053-160085053	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4867A>G; p.R1623G; 6:160073389-160073389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4056G>C; p.L1352F; 6:160064842-160064842	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2937C>T; p.I979I; 6:160058944-160058944	skin	malignant_melanoma	Substitution - coding silent
c.4799C>T; p.S1600F; 6:160073321-160073321	breast	carcinoma	Substitution - Missense
c.3942_3943insG; p.D1317fs*5; 6:160064456-160064457	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.5348G>T; p.C1783F; 6:160078232-160078232	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3942_3943insG; p.D1317fs*5; 6:160064456-160064457	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3518A>G; p.N1173S; 6:160061864-160061864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4237C>A; p.P1413T; 6:160068370-160068370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6660C>T; p.G2220G; 6:160096443-160096443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6613C>T; p.R2205W; 6:160090061-160090061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6660C>T; p.G2220G; 6:160096443-160096443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.602C>T; p.S201F; 6:160024660-160024660	skin	malignant_melanoma	Substitution - Missense
c.6613C>T; p.R2205W; 6:160090061-160090061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3154A>G; p.K1052E; 6:160060609-160060609	skin	malignant_melanoma	Substitution - Missense
c.3484G>A; p.A1162T; 6:160061830-160061830	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2414C>T; p.T805M; 6:160048443-160048443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6829G>T; p.V2277L; 6:160096612-160096612	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5479G>C; p.V1827L; 6:160079580-160079580	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6106delC; p.L2037fs*32; 6:160085032-160085032	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.7136C>T; p.P2379L; 6:160104744-160104744	skin	malignant_melanoma	Substitution - Missense
c.2347C>G; p.L783V; 6:160048376-160048376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6878G>C; p.G2293A; 6:160102554-160102554	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1699T>G; p.S567A; 6:160044591-160044591	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.709G>T; p.V237L; 6:160027247-160027247	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3778C>T; p.R1260W; 6:160063522-160063522	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5053G>A; p.D1685N; 6:160073862-160073862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3778C>T; p.R1260W; 6:160063522-160063522	breast	carcinoma	Substitution - Missense
c.3778C>T; p.R1260W; 6:160063522-160063522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5709T>C; p.C1903C; 6:160080151-160080151	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1692C>T; p.L564L; 6:160044584-160044584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2473C>T; p.R825*; 6:160048502-160048502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3370G>A; p.V1124I; 6:160061610-160061610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5006G>A; p.R1669H; 6:160073815-160073815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5006G>A; p.R1669H; 6:160073815-160073815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2858C>T; p.S953L; 6:160058084-160058084	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine; colon	carcinoma	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5811C>T; p.H1937H; 6:160080253-160080253	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2858C>T; p.S953L; 6:160058084-160058084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.L643L; 6:160046523-160046523	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.887C>T; p.T296I; 6:160032555-160032555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5595C>T; p.S1865S; 6:160079696-160079696	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4276G>A; p.A1426T; 6:160069891-160069891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162G>A; p.D388N; 6:160033058-160033058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3883G>A; p.A1295T; 6:160063627-160063627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2899-1G>T; p.?; 6:160058905-160058905	lung	carcinoma; small_cell_carcinoma	Unknown
c.1910C>A; p.S637Y; 6:160046504-160046504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2773C>G; p.Q925E; 6:160056502-160056502	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4161C>A; p.Y1387*; 6:160068294-160068294	ovary	other; neoplasm	Substitution - Nonsense
c.2982A>C; p.E994D; 6:160058989-160058989	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3194G>A; p.R1065Q; 6:160060649-160060649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1480+1G>T; p.?; 6:160040725-160040725	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.5287G>A; p.A1763T; 6:160075967-160075967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2805T>C; p.S935S; 6:160058031-160058031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5287G>A; p.A1763T; 6:160075967-160075967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1211+2T>C; p.?; 6:160033109-160033109	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5287G>A; p.A1763T; 6:160075967-160075967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4199C>T; p.P1400L; 6:160068332-160068332	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.485A>G; p.K162R; 6:160010757-160010757	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.3783C>A; p.V1261V; 6:160063527-160063527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6918C>T; p.V2306V; 6:160102594-160102594	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1310C>T; p.T437I; 6:160034517-160034517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.401G>T; p.C134F; 6:160009121-160009121	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.401G>T; p.C134F; 6:160009121-160009121	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3769T>C; p.Y1257H; 6:160063513-160063513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3739G>A; p.D1247N; 6:160063483-160063483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5506G>A; p.V1836I; 6:160079607-160079607	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Substitution - Missense
c.6262G>A; p.A2088T; 6:160088089-160088089	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1728G>T; p.K576N; 6:160044620-160044620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5744A>G; p.E1915G; 6:160080186-160080186	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6210C>G; p.D2070E; 6:160088037-160088037	breast	carcinoma	Substitution - Missense
c.6262G>A; p.A2088T; 6:160088089-160088089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6262G>A; p.A2088T; 6:160088089-160088089	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1021C>A; p.L341I; 6:160032689-160032689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1562G>T; p.R521I; 6:160043229-160043229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586T>C; p.Y196H; 6:160024644-160024644	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1562G>T; p.R521I; 6:160043229-160043229	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1150G>A; p.V384M; 6:160033046-160033046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2151T>C; p.N717N; 6:160047258-160047258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1321G>T; p.D441Y; 6:160040565-160040565	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2219C>G; p.P740R; 6:160047326-160047326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1809C>T; p.G603G; 6:160045788-160045788	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2244C>T; p.S748S; 6:160047806-160047806	skin	malignant_melanoma	Substitution - coding silent
c.1533G>A; p.K511K; 6:160043200-160043200	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2965G>T; p.A989S; 6:160058972-160058972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7269G>T; p.S2423S; 6:160104877-160104877	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5268C>T; p.F1756F; 6:160075948-160075948	breast	carcinoma	Substitution - coding silent
c.609G>A; p.P203P; 6:160024667-160024667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1590G>A; p.G530G; 6:160043257-160043257	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2905G>A; p.V969I; 6:160058912-160058912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2557G>A; p.A853T; 6:160050515-160050515	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5380G>A; p.V1794I; 6:160078264-160078264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5380G>A; p.V1794I; 6:160078264-160078264	prostate	carcinoma	Substitution - Missense
c.6112G>A; p.G2038S; 6:160085038-160085038	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1955T>C; p.V652A; 6:160046549-160046549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2570C>T; p.P857L; 6:160050528-160050528	liver	carcinoma	Substitution - Missense
c.5380G>A; p.V1794I; 6:160078264-160078264	pancreas	carcinoma	Substitution - Missense
c.6092A>T; p.K2031I; 6:160085018-160085018	kidney	other; neoplasm	Substitution - Missense
c.560A>G; p.N187S; 6:160024618-160024618	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.3957C>T; p.C1319C; 6:160064471-160064471	skin	malignant_melanoma	Substitution - coding silent
c.3886+2T>G; p.?; 6:160063632-160063632	prostate	carcinoma; adenocarcinoma	Unknown
c.2635G>A; p.D879N; 6:160050593-160050593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.421C>A; p.P141T; 6:160010693-160010693	urinary_tract; bladder	carcinoma	Substitution - Missense
c.556C>T; p.L186F; 6:160024614-160024614	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5034G>A; p.E1678E; 6:160073843-160073843	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2270G>A; p.S757N; 6:160047832-160047832	liver	carcinoma	Substitution - Missense
c.5204C>T; p.P1735L; 6:160075884-160075884	skin	malignant_melanoma	Substitution - Missense
c.5646G>A; p.A1882A; 6:160079747-160079747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.365C>G; p.T122R; 6:160009085-160009085	breast	carcinoma	Substitution - Missense
c.3561G>T; p.T1187T; 6:160061907-160061907	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2748G>A; p.W916*; 6:160056477-160056477	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.3581C>T; p.S1194L; 6:160061927-160061927	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1664C>T; p.P555L; 6:160044556-160044556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.259G>A; p.D87N; 6:159991293-159991293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6915A>G; p.A2305A; 6:160102591-160102591	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.5505C>T; p.S1835S; 6:160079606-160079606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6160G>A; p.V2054I; 6:160085086-160085086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>T; p.C586F; 6:160044649-160044649	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6454G>T; p.D2152Y; 6:160089240-160089240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.350G>C; p.C117S; 6:160009070-160009070	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.249T>G; p.V83V; 6:159991283-159991283	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1393G>A; p.A465T; 6:160040637-160040637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1050A>G; p.S350S; 6:160032946-160032946	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2784G>A; p.T928T; 6:160056513-160056513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050A>G; p.S350S; 6:160032946-160032946	thyroid	other; neoplasm	Substitution - coding silent
c.5387C>A; p.P1796H; 6:160078271-160078271	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5495G>A; p.R1832H; 6:160079596-160079596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7268C>T; p.S2423L; 6:160104876-160104876	pancreas	carcinoma	Substitution - Missense
c.2335G>A; p.D779N; 6:160047897-160047897	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1355T>C; p.V452A; 6:160040599-160040599	skin	malignant_melanoma	Substitution - Missense
c.7268C>T; p.S2423L; 6:160104876-160104876	pancreas	carcinoma	Substitution - Missense
c.3412G>A; p.A1138T; 6:160061758-160061758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.842C>T; p.A281V; 6:160029615-160029615	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.842C>T; p.A281V; 6:160029615-160029615	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1355T>C; p.V452A; 6:160040599-160040599	skin	malignant_melanoma	Substitution - Missense
c.2335G>A; p.D779N; 6:160047897-160047897	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6458_6459delTT; p.Y2154fs*2; 6:160089244-160089245	breast	carcinoma	Deletion - Frameshift
c.842C>T; p.A281V; 6:160029615-160029615	breast	carcinoma	Substitution - Missense
c.4654A>G; p.I1552V; 6:160072848-160072848	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7394G>C; p.S2465T; 6:160105002-160105002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2845C>T; p.P949S; 6:160058071-160058071	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.7075G>A; p.E2359K; 6:160104683-160104683	liver	carcinoma	Substitution - Missense
c.7075G>A; p.E2359K; 6:160104683-160104683	liver	carcinoma	Substitution - Missense
c.4067G>A; p.R1356Q; 6:160064853-160064853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2437G>A; p.V813M; 6:160048466-160048466	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4067G>A; p.R1356Q; 6:160064853-160064853	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5845C>G; p.R1949G; 6:160083961-160083961	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4994C>T; p.P1665L; 6:160073803-160073803	skin	malignant_melanoma	Substitution - Missense
c.5466G>A; p.T1822T; 6:160078350-160078350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1597G>A; p.E533K; 6:160043264-160043264	thyroid	carcinoma	Substitution - Missense
c.6488A>T; p.D2163V; 6:160089936-160089936	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5367G>C; p.W1789C; 6:160078251-160078251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7446C>G; p.D2482E; 6:160105054-160105054	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5942G>A; p.W1981*; 6:160084058-160084058	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.6902A>G; p.E2301G; 6:160102578-160102578	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4750G>A; p.V1584M; 6:160073272-160073272	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7330C>T; p.Q2444*; 6:160104938-160104938	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4608G>A; p.A1536A; 6:160072802-160072802	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.7330C>T; p.Q2444*; 6:160104938-160104938	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.767G>A; p.R256H; 6:160027305-160027305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6403G>T; p.V2135L; 6:160089189-160089189	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4631A>G; p.E1544G; 6:160072825-160072825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5853C>T; p.S1951S; 6:160083969-160083969	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.6822C>T; p.T2274T; 6:160096605-160096605	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3760G>A; p.E1254K; 6:160063504-160063504	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.875G>A; p.R292Q; 6:160029648-160029648	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4907_4909delTCT; p.F1638delF; 6:160073429-160073431	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.4868G>A; p.R1623K; 6:160073390-160073390	breast	carcinoma	Substitution - Missense
c.6244T>C; p.C2082R; 6:160088071-160088071	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6244T>C; p.C2082R; 6:160088071-160088071	stomach	adenocarcinoma	Substitution - Missense
c.4327G>A; p.G1443R; 6:160069942-160069942	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5321C>T; p.T1774M; 6:160078205-160078205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6363_6364CC>TT; p.R2122W; 6:160089149-160089150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5932A>G; p.T1978A; 6:160084048-160084048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1944T>C; p.G648G; 6:160046538-160046538	pancreas	carcinoma	Substitution - coding silent
c.3141C>A; p.Y1047*; 6:160060596-160060596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7181A>C; p.K2394T; 6:160104789-160104789	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5018A>G; p.Y1673C; 6:160073827-160073827	liver	carcinoma	Substitution - Missense
c.4836C>T; p.F1612F; 6:160073358-160073358	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5793G>A; p.A1931A; 6:160080235-160080235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4627A>T; p.S1543C; 6:160072821-160072821	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4954T>G; p.C1652G; 6:160073763-160073763	skin	malignant_melanoma	Substitution - Missense
c.5793G>A; p.A1931A; 6:160080235-160080235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2953T>G; p.S985A; 6:160058960-160058960	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5602C>T; p.R1868W; 6:160079703-160079703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7253A>G; p.E2418G; 6:160104861-160104861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2265C>A; p.Y755*; 6:160047827-160047827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5602C>T; p.R1868W; 6:160079703-160079703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.953G>C; p.C318S; 6:160032621-160032621	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6467+5G>A; p.?; 6:160089258-160089258	skin; leg	malignant_melanoma; nodular	Unknown
c.5845C>A; p.R1949R; 6:160083961-160083961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5845C>A; p.R1949R; 6:160083961-160083961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1280T>C; p.M427T; 6:160034487-160034487	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6560C>T; p.A2187V; 6:160090008-160090008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6560C>T; p.A2187V; 6:160090008-160090008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3654C>G; p.P1218P; 6:160062603-160062603	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4145C>T; p.S1382L; 6:160068278-160068278	skin; mucosal	malignant_melanoma	Substitution - Missense
c.988C>A; p.L330M; 6:160032656-160032656	liver	carcinoma	Substitution - Missense
c.7369G>T; p.E2457*; 6:160104977-160104977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.988C>A; p.L330M; 6:160032656-160032656	liver	carcinoma	Substitution - Missense
c.3153C>G; p.L1051L; 6:160060608-160060608	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4200G>A; p.P1400P; 6:160068333-160068333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1969T>G; p.Y657D; 6:160046563-160046563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.619C>G; p.L207V; 6:160024677-160024677	breast	carcinoma	Substitution - Missense
c.5859C>A; p.I1953I; 6:160083975-160083975	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.5344G>A; p.E1782K; 6:160078228-160078228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5609A>C; p.Q1870P; 6:160079710-160079710	thyroid	other; neoplasm	Substitution - Missense
c.6318G>T; p.K2106N; 6:160088145-160088145	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3670+2T>C; p.?; 6:160062621-160062621	prostate	adenoma	Unknown
c.6266C>T; p.S2089F; 6:160088093-160088093	skin	malignant_melanoma	Substitution - Missense
c.1968G>C; p.K656N; 6:160046562-160046562	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1878C>G; p.N626K; 6:160045857-160045857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5317G>A; p.G1773R; 6:160078201-160078201	skin; trunk	malignant_melanoma	Substitution - Missense
c.676C>T; p.R226W; 6:160027214-160027214	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5846G>T; p.R1949L; 6:160083962-160083962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5846G>T; p.R1949L; 6:160083962-160083962	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5467A>G; p.S1823G; 6:160078351-160078351	pancreas	carcinoma	Substitution - Missense
c.676C>T; p.R226W; 6:160027214-160027214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5005C>T; p.R1669C; 6:160073814-160073814	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6224C>T; p.T2075M; 6:160088051-160088051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4112T>G; p.F1371C; 6:160064898-160064898	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.763G>A; p.V255M; 6:160027301-160027301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1426G>A; p.G476S; 6:160040670-160040670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2310C>T; p.T770T; 6:160047872-160047872	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.646G>T; p.D216Y; 6:160024704-160024704	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7221G>T; p.Q2407H; 6:160104829-160104829	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4677C>T; p.C1559C; 6:160072871-160072871	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6441C>G; p.S2147R; 6:160089227-160089227	skin	malignant_melanoma	Substitution - Missense
c.508A>C; p.K170Q; 6:160010780-160010780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1026A>C; p.T342T; 6:160032694-160032694	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.413T>G; p.L138R; 6:160009133-160009133	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7372A>T; p.K2458*; 6:160104980-160104980	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2993A>T; p.N998I; 6:160059000-160059000	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7193C>T; p.A2398V; 6:160104801-160104801	skin	malignant_melanoma	Substitution - Missense
c.2212G>T; p.G738C; 6:160047319-160047319	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7193C>T; p.A2398V; 6:160104801-160104801	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3950A>G; p.D1317G; 6:160064464-160064464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5529C>T; p.V1843V; 6:160079630-160079630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2703_2704delCC; p.P902fs*44; 6:160056432-160056433	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4125T>C; p.A1375A; 6:160068258-160068258	breast	carcinoma	Substitution - coding silent
c.4753G>A; p.D1585N; 6:160073275-160073275	skin	malignant_melanoma	Substitution - Missense
c.5833+2T>C; p.?; 6:160080277-160080277	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.235C>T; p.P79S; 6:159991269-159991269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.235C>T; p.P79S; 6:159991269-159991269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2204C>T; p.A735V; 6:160047311-160047311	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.699C>T; p.A233A; 6:160027237-160027237	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5070C>G; p.F1690L; 6:160073879-160073879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>T; p.A380S; 6:160033034-160033034	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4189A>C; p.T1397P; 6:160068322-160068322	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5918G>A; p.R1973H; 6:160084034-160084034	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5070C>G; p.F1690L; 6:160073879-160073879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5544A>G; p.G1848G; 6:160079645-160079645	breast	carcinoma	Substitution - coding silent
c.4687G>C; p.V1563L; 6:160072881-160072881	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2138C>T; p.T713I; 6:160047245-160047245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6728C>T; p.T2243I; 6:160096511-160096511	skin	malignant_melanoma	Substitution - Missense
c.7194C>T; p.A2398A; 6:160104802-160104802	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2598T>C; p.L866L; 6:160050556-160050556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6736T>C; p.F2246L; 6:160096519-160096519	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5727C>A; p.F1909L; 6:160080169-160080169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2633G>A; p.S878N; 6:160050591-160050591	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6736T>C; p.F2246L; 6:160096519-160096519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1736A>C; p.K579T; 6:160044628-160044628	skin	malignant_melanoma	Substitution - Missense
c.3489G>A; p.A1163A; 6:160061835-160061835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5782A>T; p.S1928C; 6:160080224-160080224	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4358T>A; p.L1453Q; 6:160069973-160069973	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5341A>T; p.S1781C; 6:160078225-160078225	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7405C>T; p.Q2469*; 6:160105013-160105013	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2412C>T; p.V804V; 6:160048441-160048441	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4841G>A; p.C1614Y; 6:160073363-160073363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4375G>A; p.D1459N; 6:160069990-160069990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6424C>T; p.P2142S; 6:160089210-160089210	skin	malignant_melanoma	Substitution - Missense
c.296C>G; p.S99C; 6:160009016-160009016	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4431C>T; p.S1477S; 6:160070046-160070046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1758C>T; p.C586C; 6:160044650-160044650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4947G>A; p.A1649A; 6:160073469-160073469	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697C>T; p.N899N; 6:160056426-160056426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4751T>C; p.V1584A; 6:160073273-160073273	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5818G>A; p.G1940S; 6:160080260-160080260	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4420T>C; p.F1474L; 6:160070035-160070035	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4420T>C; p.F1474L; 6:160070035-160070035	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>T; p.D164Y; 6:160010762-160010762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7032G>A; p.R2344R; 6:160103782-160103782	prostate	adenoma	Substitution - coding silent
c.4849G>T; p.E1617*; 6:160073371-160073371	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6399G>T; p.Q2133H; 6:160089185-160089185	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5662G>A; p.V1888M; 6:160079763-160079763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161C>T; p.S387S; 6:160033057-160033057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5014G>A; p.G1672S; 6:160073823-160073823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5493G>A; p.S1831S; 6:160079594-160079594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

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]