Entrez Gene

Basic Information
Gene ID	9590
Name	AKAP12
Synonymous	A kinase (PRKA) anchor protein 12;AKAP12;A kinase (PRKA) anchor protein 12
Definition	A-kinase anchor protein 12\|A-kinase anchor protein, 250kDa\|AKAP 250\|Src-Suppressed C Kinase Substrate\|kinase scaffold protein gravin\|myasthenia gravis autoantigen gravin
Position	6q24-q25
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 0.16.

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.806_808delGAG; p.G269delG; 6:151349197-151349199	lung	carcinoma; non_small_cell_carcinoma	Deletion - In frame
c.855T>C; p.T285T; 6:151349246-151349246	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2949G>A; p.G983G; 6:151351340-151351340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1881G>C; p.S627S; 6:151350272-151350272	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.349A>G; p.K117E; 6:151348740-151348740	thyroid	other; neoplasm	Substitution - Missense
c.349A>G; p.K117E; 6:151348740-151348740	thyroid	other; neoplasm	Substitution - Missense
c.5255A>G; p.H1752R; 6:151353646-151353646	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.769G>A; p.E257K; 6:151349160-151349160	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5183C>G; p.P1728R; 6:151353574-151353574	skin	malignant_melanoma	Substitution - Missense
c.4685T>C; p.V1562A; 6:151353076-151353076	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2895C>T; p.V965V; 6:151351286-151351286	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2846C>T; p.T949M; 6:151351237-151351237	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3429C>T; p.T1143T; 6:151351820-151351820	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2846C>T; p.T949M; 6:151351237-151351237	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3351A>G; p.P1117P; 6:151351742-151351742	skin	malignant_melanoma	Substitution - coding silent
c.4744G>A; p.V1582M; 6:151353135-151353135	skin	malignant_melanoma	Substitution - Missense
c.4686A>T; p.V1562V; 6:151353077-151353077	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1621G>T; p.D541Y; 6:151350012-151350012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4355T>A; p.V1452D; 6:151352746-151352746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2491G>T; p.A831S; 6:151350882-151350882	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1012G>A; p.E338K; 6:151349403-151349403	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1237G>T; p.E413*; 6:151349628-151349628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3410C>T; p.T1137I; 6:151351801-151351801	skin; trunk	malignant_melanoma	Substitution - Missense
c.5327A>C; p.K1776T; 6:151353718-151353718	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2511C>T; p.N837N; 6:151350902-151350902	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2511C>T; p.N837N; 6:151350902-151350902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3732G>A; p.E1244E; 6:151352123-151352123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3832G>A; p.V1278I; 6:151352223-151352223	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2494G>A; p.G832R; 6:151350885-151350885	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4365G>A; p.E1455E; 6:151352756-151352756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4672G>A; p.V1558I; 6:151353063-151353063	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1827C>A; p.P609P; 6:151350218-151350218	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4328C>T; p.T1443M; 6:151352719-151352719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2974G>A; p.E992K; 6:151351365-151351365	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1422G>A; p.E474E; 6:151349813-151349813	skin	malignant_melanoma	Substitution - coding silent
c.3310G>C; p.E1104Q; 6:151351701-151351701	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1471delA; p.K491fs*7; 6:151349862-151349862	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2656G>A; p.E886K; 6:151351047-151351047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3933A>C; p.E1311D; 6:151352324-151352324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.739_749del11; p.Q247fs*28; 6:151349130-151349140	pancreas	carcinoma	Deletion - Frameshift
c.1272G>T; p.V424V; 6:151349663-151349663	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.739_749del11; p.Q247fs*28; 6:151349130-151349140	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1099G>A; p.E367K; 6:151349490-151349490	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4324delG; p.E1442fs*10; 6:151352715-151352715	breast	carcinoma	Deletion - Frameshift
c.4920G>T; p.K1640N; 6:151353311-151353311	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1941G>A; p.E647E; 6:151350332-151350332	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3886_3887insG; p.E1297fs*5; 6:151352277-151352278	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3474delC; p.P1160fs*18; 6:151351865-151351865	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3889G>A; p.E1297K; 6:151352280-151352280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3474delC; p.P1160fs*18; 6:151351865-151351865	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3474delC; p.P1160fs*18; 6:151351865-151351865	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1864C>A; p.R622S; 6:151350255-151350255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2441G>A; p.R814Q; 6:151350832-151350832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2178C>T; p.D726D; 6:151350569-151350569	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1623C>T; p.D541D; 6:151350014-151350014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4806G>A; p.Q1602Q; 6:151353197-151353197	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3116C>T; p.T1039I; 6:151351507-151351507	skin	malignant_melanoma	Substitution - Missense
c.1939G>T; p.E647*; 6:151350330-151350330	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2570G>T; p.R857M; 6:151350961-151350961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2266G>A; p.V756I; 6:151350657-151350657	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3117T>C; p.T1039T; 6:151351508-151351508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3386G>A; p.S1129N; 6:151351777-151351777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2717T>C; p.I906T; 6:151351108-151351108	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2871C>A; p.N957K; 6:151351262-151351262	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4708G>A; p.E1570K; 6:151353099-151353099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.493T>G; p.S165A; 6:151348884-151348884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.578C>A; p.P193H; 6:151348969-151348969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2717T>C; p.I906T; 6:151351108-151351108	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3488T>G; p.V1163G; 6:151351879-151351879	breast	carcinoma	Substitution - Missense
c.4708G>A; p.E1570K; 6:151353099-151353099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>A; p.G341R; 6:151349412-151349412	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1874G>A; p.R625Q; 6:151350265-151350265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3831C>T; p.D1277D; 6:151352222-151352222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2002G>T; p.E668*; 6:151350393-151350393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4714T>C; p.L1572L; 6:151353105-151353105	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1794C>T; p.S598S; 6:151350185-151350185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.851C>T; p.P284L; 6:151349242-151349242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3085G>A; p.V1029I; 6:151351476-151351476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3750G>T; p.V1250V; 6:151352141-151352141	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3085G>A; p.V1029I; 6:151351476-151351476	pancreas	carcinoma	Substitution - Missense
c.3543C>T; p.D1181D; 6:151351934-151351934	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2698A>G; p.T900A; 6:151351089-151351089	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2839delC; p.T949fs*23; 6:151351230-151351230	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4864G>A; p.A1622T; 6:151353255-151353255	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>A; p.P844P; 6:151350923-151350923	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3006G>T; p.M1002I; 6:151351397-151351397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4933G>A; p.E1645K; 6:151353324-151353324	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.268G>A; p.G90S; 6:151305852-151305852	pancreas	NS	Substitution - Missense
c.4373C>T; p.S1458F; 6:151352764-151352764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1098C>T; p.H366H; 6:151349489-151349489	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2448G>T; p.K816N; 6:151350839-151350839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1770G>A; p.G590G; 6:151350161-151350161	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5171C>G; p.T1724S; 6:151353562-151353562	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>A; p.D214N; 6:151349031-151349031	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4472C>T; p.T1491I; 6:151352863-151352863	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.474G>A; p.E158E; 6:151348865-151348865	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.640G>A; p.D214N; 6:151349031-151349031	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.359C>T; p.S120F; 6:151348750-151348750	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4216G>A; p.V1406I; 6:151352607-151352607	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1949C>A; p.A650D; 6:151350340-151350340	kidney	other; neoplasm	Substitution - Missense
c.3844G>A; p.E1282K; 6:151352235-151352235	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1053C>T; p.T351T; 6:151349444-151349444	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1921G>A; p.A641T; 6:151350312-151350312	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1804delA; p.R604fs*14; 6:151350195-151350195	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3844G>A; p.E1282K; 6:151352235-151352235	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3844G>A; p.E1282K; 6:151352235-151352235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1983G>A; p.V661V; 6:151350374-151350374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1391T>G; p.V464G; 6:151349782-151349782	breast	carcinoma	Substitution - Missense
c.1710T>C; p.P570P; 6:151350101-151350101	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.168A>G; p.L56L; 6:151305752-151305752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1572C>A; p.G524G; 6:151349963-151349963	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1572C>A; p.G524G; 6:151349963-151349963	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.168A>G; p.L56L; 6:151305752-151305752	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.257G>T; p.G86V; 6:151305841-151305841	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3568G>A; p.E1190K; 6:151351959-151351959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1572C>A; p.G524G; 6:151349963-151349963	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.257G>T; p.G86V; 6:151305841-151305841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1300G>A; p.E434K; 6:151349691-151349691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1054G>A; p.A352T; 6:151349445-151349445	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1996C>A; p.P666T; 6:151350387-151350387	thyroid	carcinoma	Substitution - Missense
c.1054G>A; p.A352T; 6:151349445-151349445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4376delA; p.N1461fs*26; 6:151352767-151352767	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4376delA; p.N1461fs*26; 6:151352767-151352767	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3618_3619insG; p.T1209fs*26; 6:151352009-151352010	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4076A>C; p.E1359A; 6:151352467-151352467	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.778C>T; p.Q260*; 6:151349169-151349169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3528C>T; p.P1176P; 6:151351919-151351919	liver	carcinoma	Substitution - coding silent
c.551C>T; p.T184I; 6:151348942-151348942	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2394C>A; p.P798P; 6:151350785-151350785	pancreas	carcinoma	Substitution - coding silent
c.2258G>A; p.G753E; 6:151350649-151350649	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4331T>G; p.L1444W; 6:151352722-151352722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.862G>A; p.V288M; 6:151349253-151349253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3265G>A; p.E1089K; 6:151351656-151351656	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.414G>A; p.G138G; 6:151348805-151348805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1524A>T; p.R508S; 6:151349915-151349915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2548T>C; p.S850P; 6:151350939-151350939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>T; p.D204Y; 6:151349001-151349001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>T; p.D204Y; 6:151349001-151349001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5092G>C; p.D1698H; 6:151353483-151353483	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2531C>T; p.P844L; 6:151350922-151350922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2130C>G; p.D710E; 6:151350521-151350521	breast	carcinoma	Substitution - Missense
c.5092G>C; p.D1698H; 6:151353483-151353483	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1137G>C; p.L379L; 6:151349528-151349528	ovary	other; neoplasm	Substitution - coding silent
c.73C>T; p.P25S; 6:151240635-151240635	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3949G>A; p.D1317N; 6:151352340-151352340	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3418_3419insA; p.A1141fs*21; 6:151351809-151351810	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3762T>G; p.T1254T; 6:151352153-151352153	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.728T>C; p.L243P; 6:151349119-151349119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1484_1494del11; p.V496fs*72; 6:151349875-151349885	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.3081T>G; p.G1027G; 6:151351472-151351472	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.636T>G; p.A212A; 6:151349027-151349027	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4134G>A; p.V1378V; 6:151352525-151352525	skin	malignant_melanoma	Substitution - coding silent
c.3659G>A; p.R1220K; 6:151352050-151352050	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2262_2263insG; p.V756fs*8; 6:151350653-151350654	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3271G>A; p.D1091N; 6:151351662-151351662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.D319N; 6:151349346-151349346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>A; p.E164K; 6:151348881-151348881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3544G>C; p.A1182P; 6:151351935-151351935	liver	carcinoma	Substitution - Missense
c.2629G>A; p.A877T; 6:151351020-151351020	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2649G>A; p.E883E; 6:151351040-151351040	skin	malignant_melanoma	Substitution - coding silent
c.3907G>A; p.A1303T; 6:151352298-151352298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3177C>T; p.T1059T; 6:151351568-151351568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1866T>G; p.R622R; 6:151350257-151350257	breast	carcinoma	Substitution - coding silent
c.3177C>T; p.T1059T; 6:151351568-151351568	skin	malignant_melanoma	Substitution - coding silent
c.718G>A; p.E240K; 6:151349109-151349109	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.E240K; 6:151349109-151349109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.E240K; 6:151349109-151349109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>C; p.E267Q; 6:151349190-151349190	breast	carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 6:151353278-151353278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4884T>A; p.S1628S; 6:151353275-151353275	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3468G>A; p.Q1156Q; 6:151351859-151351859	breast	carcinoma	Substitution - coding silent
c.529A>G; p.K177E; 6:151348920-151348920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3667G>T; p.A1223S; 6:151352058-151352058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3233A>G; p.E1078G; 6:151351624-151351624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689G>A; p.S230N; 6:151349080-151349080	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2108G>A; p.G703E; 6:151350499-151350499	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5203C>G; p.Q1735E; 6:151353594-151353594	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.201C>T; p.G67G; 6:151305785-151305785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2125G>A; p.G709R; 6:151350516-151350516	skin	malignant_melanoma	Substitution - Missense
c.5203C>G; p.Q1735E; 6:151353594-151353594	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3469G>C; p.A1157P; 6:151351860-151351860	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1664C>T; p.P555L; 6:151350055-151350055	skin	malignant_melanoma	Substitution - Missense
c.800A>C; p.E267A; 6:151349191-151349191	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5323G>A; p.A1775T; 6:151353714-151353714	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.751G>T; p.E251*; 6:151349142-151349142	breast	carcinoma	Substitution - Nonsense
c.2574G>A; p.E858E; 6:151350965-151350965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.295G>A; p.E99K; 6:151305879-151305879	skin; neck	malignant_melanoma	Substitution - Missense
c.1904T>C; p.L635P; 6:151350295-151350295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2884G>A; p.G962S; 6:151351275-151351275	pancreas	carcinoma	Substitution - Missense
c.2838A>G; p.E946E; 6:151351229-151351229	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3931G>T; p.E1311*; 6:151352322-151352322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3486G>A; p.S1162S; 6:151351877-151351877	liver	carcinoma	Substitution - coding silent
c.439G>A; p.E147K; 6:151348830-151348830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3084C>T; p.G1028G; 6:151351475-151351475	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3486G>A; p.S1162S; 6:151351877-151351877	liver	carcinoma	Substitution - coding silent
c.1685A>G; p.K562R; 6:151350076-151350076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1298C>T; p.T433M; 6:151349689-151349689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4432G>A; p.D1478N; 6:151352823-151352823	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2789C>A; p.A930E; 6:151351180-151351180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4432G>A; p.D1478N; 6:151352823-151352823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2143G>A; p.D715N; 6:151350534-151350534	breast	carcinoma	Substitution - Missense
c.2896G>A; p.V966I; 6:151351287-151351287	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3235G>A; p.E1079K; 6:151351626-151351626	breast	carcinoma	Substitution - Missense
c.5200A>G; p.K1734E; 6:151353591-151353591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3759A>C; p.E1253D; 6:151352150-151352150	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4762C>G; p.Q1588E; 6:151353153-151353153	liver	carcinoma	Substitution - Missense
c.387G>A; p.A129A; 6:151348778-151348778	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2896G>A; p.V966I; 6:151351287-151351287	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.652C>A; p.P218T; 6:151349043-151349043	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.808G>T; p.E270*; 6:151349199-151349199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3391G>C; p.E1131Q; 6:151351782-151351782	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1553A>C; p.K518T; 6:151349944-151349944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2200G>T; p.E734*; 6:151350591-151350591	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.221T>G; p.L74R; 6:151305805-151305805	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.736G>A; p.E246K; 6:151349127-151349127	breast	carcinoma	Substitution - Missense
c.4757A>G; p.D1586G; 6:151353148-151353148	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5321C>T; p.S1774F; 6:151353712-151353712	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5016A>G; p.T1672T; 6:151353407-151353407	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2948G>T; p.G983V; 6:151351339-151351339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2948G>T; p.G983V; 6:151351339-151351339	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3980A>C; p.K1327T; 6:151352371-151352371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2886C>T; p.G962G; 6:151351277-151351277	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1689C>T; p.G563G; 6:151350080-151350080	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1689C>T; p.G563G; 6:151350080-151350080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.748G>A; p.A250T; 6:151349139-151349139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.748G>A; p.A250T; 6:151349139-151349139	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4226A>C; p.K1409T; 6:151352617-151352617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.262C>G; p.L88V; 6:151305846-151305846	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2424G>A; p.K808K; 6:151350815-151350815	skin	malignant_melanoma	Substitution - coding silent
c.4080C>T; p.H1360H; 6:151352471-151352471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1044G>A; p.E348E; 6:151349435-151349435	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.852G>A; p.P284P; 6:151349243-151349243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3032A>G; p.D1011G; 6:151351423-151351423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4008G>A; p.E1336E; 6:151352399-151352399	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1981G>A; p.V661M; 6:151350372-151350372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2072G>T; p.R691I; 6:151350463-151350463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4743C>T; p.H1581H; 6:151353134-151353134	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2493A>G; p.A831A; 6:151350884-151350884	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2168C>T; p.T723M; 6:151350559-151350559	liver	carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 6:151349662-151349662	breast	carcinoma	Substitution - Missense
c.2168C>T; p.T723M; 6:151350559-151350559	liver	carcinoma	Substitution - Missense
c.646A>C; p.K216Q; 6:151349037-151349037	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2495G>C; p.G832A; 6:151350886-151350886	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3996C>T; p.P1332P; 6:151352387-151352387	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3324A>G; p.Q1108Q; 6:151351715-151351715	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3251C>A; p.S1084*; 6:151351642-151351642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5084C>T; p.P1695L; 6:151353475-151353475	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2263G>A; p.G755S; 6:151350654-151350654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1463T>G; p.V488G; 6:151349854-151349854	breast	carcinoma	Substitution - Missense
c.3762_3763delTG; p.V1255fs*7; 6:151352153-151352154	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3103C>G; p.Q1035E; 6:151351494-151351494	thyroid	other; neoplasm	Substitution - Missense
c.1474delC; p.E494fs*4; 6:151349865-151349865	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1670G>A; p.S557N; 6:151350061-151350061	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1183A>G; p.K395E; 6:151349574-151349574	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2305A>C; p.R769R; 6:151350696-151350696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4268C>T; p.A1423V; 6:151352659-151352659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2893G>A; p.V965I; 6:151351284-151351284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.256_257GG>AA; p.G86K; 6:151305840-151305841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2153G>A; p.G718E; 6:151350544-151350544	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2535C>T; p.A845A; 6:151350926-151350926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5034T>A; p.D1678E; 6:151353425-151353425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2012G>A; p.R671H; 6:151350403-151350403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1599G>T; p.Q533H; 6:151349990-151349990	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3981G>C; p.K1327N; 6:151352372-151352372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.438C>T; p.I146I; 6:151348829-151348829	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.3684G>C; p.V1228V; 6:151352075-151352075	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4590_4591insGAG; p.E1531_D1532insE; 6:151352981-151352982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.241C>A; p.L81I; 6:151305825-151305825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.199G>A; p.G67S; 6:151305783-151305783	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.199G>A; p.G67S; 6:151305783-151305783	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2688C>T; p.V896V; 6:151351079-151351079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1140C>A; p.P380P; 6:151349531-151349531	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.345G>C; p.V115V; 6:151348736-151348736	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2577A>C; p.K859N; 6:151350968-151350968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1371T>C; p.A457A; 6:151349762-151349762	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4754C>A; p.A1585D; 6:151353145-151353145	kidney	other; neoplasm	Substitution - Missense
c.1371T>C; p.A457A; 6:151349762-151349762	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.5000G>A; p.G1667E; 6:151353391-151353391	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2646G>A; p.K882K; 6:151351037-151351037	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2351T>G; p.I784R; 6:151350742-151350742	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4063G>A; p.E1355K; 6:151352454-151352454	skin	malignant_melanoma	Substitution - Missense
c.4269G>A; p.A1423A; 6:151352660-151352660	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5085G>A; p.P1695P; 6:151353476-151353476	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>A; p.T311T; 6:151349324-151349324	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.475C>T; p.L159L; 6:151348866-151348866	stomach	adenocarcinoma	Substitution - coding silent
c.3142G>A; p.E1048K; 6:151351533-151351533	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5060G>T; p.R1687I; 6:151353451-151353451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5060G>T; p.R1687I; 6:151353451-151353451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2440C>T; p.R814*; 6:151350831-151350831	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.503A>G; p.N168S; 6:151348894-151348894	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2699C>T; p.T900M; 6:151351090-151351090	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1826C>T; p.P609L; 6:151350217-151350217	skin	malignant_melanoma	Substitution - Missense
c.1041C>T; p.S347S; 6:151349432-151349432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4800A>C; p.E1600D; 6:151353191-151353191	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1272G>A; p.V424V; 6:151349663-151349663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3768C>T; p.S1256S; 6:151352159-151352159	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4800A>C; p.E1600D; 6:151353191-151353191	thyroid	other; neoplasm	Substitution - Missense
c.4800A>C; p.E1600D; 6:151353191-151353191	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3932A>C; p.E1311A; 6:151352323-151352323	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2590C>A; p.Q864K; 6:151350981-151350981	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3932A>C; p.E1311A; 6:151352323-151352323	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4081G>A; p.E1361K; 6:151352472-151352472	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2020G>A; p.D674N; 6:151350411-151350411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4104A>G; p.E1368E; 6:151352495-151352495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4104A>G; p.E1368E; 6:151352495-151352495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1864C>T; p.R622C; 6:151350255-151350255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>A; p.S112Y; 6:151348726-151348726	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1020C>T; p.D340D; 6:151349411-151349411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3340C>A; p.Q1114K; 6:151351731-151351731	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1475C>T; p.P492L; 6:151349866-151349866	skin	malignant_melanoma	Substitution - Missense
c.1175C>A; p.S392Y; 6:151349566-151349566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.319+2T>G; p.?; 6:151305905-151305905	ovary	carcinoma; serous_carcinoma	Unknown
c.4935G>T; p.E1645D; 6:151353326-151353326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2753T>C; p.V918A; 6:151351144-151351144	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5025G>A; p.V1675V; 6:151353416-151353416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.360C>T; p.S120S; 6:151348751-151348751	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.277G>A; p.A93T; 6:151305861-151305861	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4650C>T; p.V1550V; 6:151353041-151353041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2394C>G; p.P798P; 6:151350785-151350785	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5335C>T; p.L1779F; 6:151353726-151353726	breast	carcinoma	Substitution - Missense
c.3655G>T; p.E1219*; 6:151352046-151352046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2789C>T; p.A930V; 6:151351180-151351180	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.725C>A; p.T242N; 6:151349116-151349116	liver	carcinoma	Substitution - Missense
c.725C>A; p.T242N; 6:151349116-151349116	liver	carcinoma	Substitution - Missense
c.3432A>G; p.L1144L; 6:151351823-151351823	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.3009G>A; p.V1003V; 6:151351400-151351400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3601G>A; p.A1201T; 6:151351992-151351992	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.320T>C; p.V107A; 6:151348711-151348711	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1446C>G; p.L482L; 6:151349837-151349837	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.3130C>A; p.Q1044K; 6:151351521-151351521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2854G>A; p.E952K; 6:151351245-151351245	skin	malignant_melanoma	Substitution - Missense
c.449C>A; p.P150H; 6:151348840-151348840	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2341G>A; p.E781K; 6:151350732-151350732	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1873C>T; p.R625W; 6:151350264-151350264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4122C>G; p.L1374L; 6:151352513-151352513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.315A>G; p.T105T; 6:151305899-151305899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.315A>G; p.T105T; 6:151305899-151305899	thyroid	other; neoplasm	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]