Entrez Gene

Basic Information
Gene ID	29072
Name	SETD2
Synonymous	SET domain containing 2;SETD2;SET domain containing 2
Definition	histone-lysine N-methyltransferase SETD2\|huntingtin interacting protein 1\|huntingtin yeast partner B\|huntingtin-interacting protein B\|lysine N-methyltransferase 3A
Position	3p21.31
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 0.38.

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.688G>C; p.D230H; 3:47122439-47122439	breast	carcinoma	Substitution - Missense
c.3929delA; p.N1310fs*25; 3:47084342-47084342	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3440T>C; p.F1147S; 3:47101524-47101524	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.659A>T; p.N220I; 3:47122468-47122468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.3635T>G; p.V1212G; 3:47088246-47088246	breast	carcinoma	Substitution - Missense
c.2870G>A; p.W957*; 3:47120257-47120257	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1141C>T; p.Q381*; 3:47121986-47121986	skin	malignant_melanoma	Substitution - Nonsense
c.4971G>A; p.P1657P; 3:47057304-47057304	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3337G>T; p.D1113Y; 3:47103417-47103417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.327T>C; p.A109A; 3:47122800-47122800	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3337G>T; p.D1113Y; 3:47103417-47103417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3970T>C; p.W1324R; 3:47084301-47084301	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4971G>A; p.P1657P; 3:47057304-47057304	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2659delT; p.S887fs*4; 3:47120468-47120468	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.5945G>A; p.C1982Y; 3:47017717-47017717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1051C>T; p.Q351*; 3:47122076-47122076	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.3041G>T; p.G1014V; 3:47116659-47116659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2267G>T; p.G756V; 3:47120860-47120860	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2267G>T; p.G756V; 3:47120860-47120860	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3340G>C; p.A1114P; 3:47103414-47103414	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.522T>C; p.P174P; 3:47122605-47122605	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.430G>A; p.D144N; 3:47122697-47122697	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2059G>A; p.V687M; 3:47121068-47121068	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.5354C>T; p.P1785L; 3:47056921-47056921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1417A>T; p.R473*; 3:47122835-47122835	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3409-2A>G; p.?; 3:47101557-47101557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2965C>T; p.R989*; 3:47116735-47116735	skin	malignant_melanoma	Substitution - Nonsense
c.3409-2A>G; p.?; 3:47101557-47101557	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.2965C>T; p.R989*; 3:47116735-47116735	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2965C>T; p.R989*; 3:47116735-47116735	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2965C>T; p.R989*; 3:47116735-47116735	kidney	carcinoma	Substitution - Nonsense
c.5765C>T; p.P1922L; 3:47037742-47037742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1323T>G; p.A441A; 3:47121804-47121804	breast	carcinoma	Substitution - coding silent
c.2986T>C; p.C996R; 3:47116714-47116714	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2986T>C; p.C996R; 3:47116714-47116714	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.625A>T; p.K209*; 3:47122502-47122502	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3490C>T; p.Q1164*; 3:47101474-47101474	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2801C>G; p.S934*; 3:47120326-47120326	liver	carcinoma	Substitution - Nonsense
c.5017T>C; p.Y1673H; 3:47057258-47057258	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2801C>G; p.S934*; 3:47120326-47120326	liver	carcinoma	Substitution - Nonsense
c.3955C>T; p.P1319S; 3:47084316-47084316	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5017T>C; p.Y1673H; 3:47057258-47057258	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>G; p.N76S; 3:47122900-47122900	breast	carcinoma	Substitution - Missense
c.4172C>T; p.S1391F; 3:47084099-47084099	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.494C>T; p.P165L; 3:47122633-47122633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5177T>G; p.V1726G; 3:47057098-47057098	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2946-2A>G; p.?; 3:47116756-47116756	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2653G>T; p.D885Y; 3:47120474-47120474	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5785G>A; p.E1929K; 3:47037722-47037722	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3769_3777del9; p.N1257_H1259del; 3:47086306-47086314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.2306A>C; p.Q769P; 3:47120821-47120821	skin	malignant_melanoma	Substitution - Missense
c.3178G>C; p.G1060R; 3:47113904-47113904	central_nervous_system; brain	glioma	Substitution - Missense
c.119C>A; p.S40*; 3:47123008-47123008	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1690C>T; p.Q564*; 3:47121437-47121437	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.2670A>C; p.L890F; 3:47120457-47120457	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.4090G>T; p.E1364*; 3:47084181-47084181	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.5736T>G; p.T1912T; 3:47037771-47037771	liver	carcinoma	Substitution - coding silent
c.3170A>G; p.K1057R; 3:47113912-47113912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3619C>T; p.R1207C; 3:47097969-47097969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5987T>G; p.I1996S; 3:47017675-47017675	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3619C>T; p.R1207C; 3:47097969-47097969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2246C>T; p.S749L; 3:47120881-47120881	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1163A>T; p.K388M; 3:47121964-47121964	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>G; p.S84C; 3:47122876-47122876	breast	carcinoma	Substitution - Missense
c.6109A>C; p.T2037P; 3:47017170-47017170	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma	Substitution - Missense
c.4537T>C; p.W1513R; 3:47083734-47083734	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3724A>G; p.I1242V; 3:47088157-47088157	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2026G>C; p.D676H; 3:47121101-47121101	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2992T>C; p.C998R; 3:47116708-47116708	breast	carcinoma	Substitution - Missense
c.5846C>T; p.S1949L; 3:47019836-47019836	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2710delA; p.R904fs*5; 3:47120417-47120417	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4427C>T; p.P1476L; 3:47083844-47083844	skin	malignant_melanoma	Substitution - Missense
c.2992T>C; p.C998R; 3:47116708-47116708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5846C>T; p.S1949L; 3:47019836-47019836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2710delA; p.R904fs*5; 3:47120417-47120417	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5850A>C; p.K1950N; 3:47019832-47019832	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3489T>G; p.Y1163*; 3:47101475-47101475	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3058C>T; p.R1020C; 3:47116642-47116642	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.2297C>T; p.T766I; 3:47120830-47120830	skin	malignant_melanoma	Substitution - Missense
c.1244_1245delCA; p.S415fs*1; 3:47121882-47121883	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.1433T>G; p.L478*; 3:47121694-47121694	pancreas	carcinoma	Substitution - Nonsense
c.3058C>T; p.R1020C; 3:47116642-47116642	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5338C>T; p.Q1780*; 3:47056937-47056937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3457_3458insGAAG; p.V1153fs*11; 3:47101506-47101507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.3457_3458insGAAG; p.V1153fs*11; 3:47101506-47101507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.3457_3458insGAAG; p.V1153fs*11; 3:47101506-47101507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.3457_3458insGAAG; p.V1153fs*11; 3:47101506-47101507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.3457_3458insGAAG; p.V1153fs*11; 3:47101506-47101507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.3457_3458insGAAG; p.V1153fs*11; 3:47101506-47101507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.3335T>C; p.I1112T; 3:47103419-47103419	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2908T>G; p.F970V; 3:47120219-47120219	liver	carcinoma	Substitution - Missense
c.2173A>G; p.S725G; 3:47120954-47120954	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2908T>G; p.F970V; 3:47120219-47120219	liver	carcinoma	Substitution - Missense
c.4222C>T; p.Q1408*; 3:47084049-47084049	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4055T>C; p.L1352P; 3:47084216-47084216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3757G>A; p.E1253K; 3:47088124-47088124	liver	carcinoma	Substitution - Missense
c.104G>C; p.G35A; 3:47123023-47123023	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3076T>C; p.C1026R; 3:47116624-47116624	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3532G>A; p.G1178R; 3:47098056-47098056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5337A>G; p.V1779V; 3:47056938-47056938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3812A>G; p.H1271R; 3:47086271-47086271	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5628_5629insC; p.S1879fs*47; 3:47042661-47042662	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.2827G>T; p.G943W; 3:47120300-47120300	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3218T>G; p.V1073G; 3:47106109-47106109	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3298C>T; p.H1100Y; 3:47106029-47106029	skin	malignant_melanoma	Substitution - Missense
c.5587C>T; p.P1863S; 3:47046489-47046489	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1042G>T; p.E348*; 3:47122085-47122085	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1019A>T; p.D340V; 3:47122108-47122108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2142G>A; p.W714*; 3:47120985-47120985	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2764A>C; p.K922Q; 3:47120363-47120363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.815T>G; p.V272G; 3:47122312-47122312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4690A>T; p.K1564*; 3:47062257-47062257	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1870C>G; p.Q624E; 3:47121257-47121257	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2705A>C; p.K902T; 3:47120422-47120422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3487T>C; p.Y1163H; 3:47101477-47101477	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3649G>T; p.E1217*; 3:47088232-47088232	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4399C>T; p.L1467L; 3:47083872-47083872	skin	malignant_melanoma	Substitution - coding silent
c.3470C>T; p.S1157L; 3:47101494-47101494	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.606G>A; p.S202S; 3:47122521-47122521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.345A>G; p.S115S; 3:47122782-47122782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.766A>G; p.K256E; 3:47122361-47122361	skin	malignant_melanoma	Substitution - Missense
c.5270_5271insA; p.A1758fs*11; 3:47057004-47057005	breast	carcinoma	Insertion - Frameshift
c.3206delC; p.S1069fs*1; 3:47113876-47113876	soft_tissue; blood_vessel	angiosarcoma	Deletion - Frameshift
c.1391A>C; p.N464T; 3:47121736-47121736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2992T>G; p.C998G; 3:47116708-47116708	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.109C>T; p.R37*; 3:47123018-47123018	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.4784+1G>C; p.?; 3:47062162-47062162	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.5518G>T; p.G1840*; 3:47046558-47046558	kidney	other; neoplasm	Substitution - Nonsense
c.3376C>T; p.H1126Y; 3:47103378-47103378	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3376C>T; p.H1126Y; 3:47103378-47103378	skin	malignant_melanoma	Substitution - Missense
c.2993G>A; p.C998Y; 3:47116707-47116707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3376C>T; p.H1126Y; 3:47103378-47103378	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3178G>A; p.G1060S; 3:47113904-47113904	skin; neck	malignant_melanoma	Substitution - Missense
c.3376C>T; p.H1126Y; 3:47103378-47103378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3376C>T; p.H1126Y; 3:47103378-47103378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2993G>A; p.C998Y; 3:47116707-47116707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>G; p.A459G; 3:47121751-47121751	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3158_3161delTCAC; p.L1053fs*8; 3:47113921-47113924	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3446C>A; p.T1149N; 3:47101518-47101518	bone; femur	chondrosarcoma	Substitution - Missense
c.2144A>C; p.Q715P; 3:47120983-47120983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5320C>T; p.Q1774*; 3:47056955-47056955	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4550delA; p.K1517fs*127; 3:47083721-47083721	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma	Deletion - Frameshift
c.4037C>T; p.S1346L; 3:47084234-47084234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1861G>T; p.A621S; 3:47121266-47121266	pancreas	carcinoma	Substitution - Missense
c.2978G>A; p.R993Q; 3:47116722-47116722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.274_275delTC; p.S92fs*3; 3:47122852-47122853	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2348_2349delAT; p.Y783fs*12; 3:47120778-47120779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3423A>G; p.G1141G; 3:47101541-47101541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3420C>T; p.N1140N; 3:47101544-47101544	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3817C>T; p.L1273L; 3:47086266-47086266	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5684C>T; p.A1895V; 3:47042606-47042606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3584G>C; p.R1195T; 3:47098004-47098004	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1852G>A; p.A618T; 3:47121275-47121275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.60A>C; p.E20D; 3:47123067-47123067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301G>A; p.T767T; 3:47120826-47120826	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2671G>T; p.E891*; 3:47120456-47120456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2994T>A; p.C998*; 3:47116706-47116706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4561C>T; p.R1521*; 3:47067109-47067109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1171A>G; p.S391G; 3:47121956-47121956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1689C>G; p.L563L; 3:47121438-47121438	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.40G>T; p.E14*; 3:47123087-47123087	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4510G>T; p.D1504Y; 3:47083761-47083761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.40G>T; p.E14*; 3:47123087-47123087	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.649G>A; p.G217R; 3:47122478-47122478	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3506+1G>A; p.?; 3:47101457-47101457	urinary_tract; bladder	carcinoma	Unknown
c.2281C>G; p.Q761E; 3:47120846-47120846	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1836A>C; p.E612D; 3:47121291-47121291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2372G>A; p.G791D; 3:47120755-47120755	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.103G>T; p.G35*; 3:47123024-47123024	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5960G>A; p.R1987Q; 3:47017702-47017702	breast	carcinoma	Substitution - Missense
c.2204C>A; p.S735Y; 3:47120923-47120923	breast	carcinoma	Substitution - Missense
c.5267_5271delTGCCG; p.V1756fs*11; 3:47057004-47057008	breast	carcinoma	Deletion - Frameshift
c.2952G>T; p.K984N; 3:47116748-47116748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4472_4481del10; p.R1491fs*9; 3:47083790-47083799	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3467G>A; p.G1156D; 3:47101497-47101497	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5356G>T; p.A1786S; 3:47056919-47056919	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3043G>T; p.E1015*; 3:47116657-47116657	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1439A>G; p.E480G; 3:47121688-47121688	liver	carcinoma	Substitution - Missense
c.1439A>G; p.E480G; 3:47121688-47121688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3795G>T; p.K1265N; 3:47086288-47086288	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1439A>G; p.E480G; 3:47121688-47121688	liver	carcinoma	Substitution - Missense
c.384T>A; p.D128E; 3:47122743-47122743	thyroid	other; neoplasm	Substitution - Missense
c.4391G>A; p.G1464D; 3:47083880-47083880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1439A>G; p.E480G; 3:47121688-47121688	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3112A>C; p.N1038H; 3:47113970-47113970	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5828A>T; p.E1943V; 3:47037679-47037679	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>T; p.Q254*; 3:47122367-47122367	skin	malignant_melanoma	Substitution - Nonsense
c.5621A>G; p.D1874G; 3:47042669-47042669	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5605_5612delACAAATAA; p.T1869fs*54; 3:47042678-47042685	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.655C>T; p.Q219*; 3:47122472-47122472	soft_tissue; fibrous_tissue_and_uncertain_o	synovial_sarcoma	Substitution - Nonsense
c.2900C>T; p.P967L; 3:47120227-47120227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1643C>A; p.S548*; 3:47121484-47121484	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3349A>C; p.K1117Q; 3:47103405-47103405	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4849G>T; p.E1617*; 3:47057426-47057426	liver	carcinoma	Substitution - Nonsense
c.5877C>A; p.T1959T; 3:47019805-47019805	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3349A>C; p.K1117Q; 3:47103405-47103405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5877C>A; p.T1959T; 3:47019805-47019805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3809G>A; p.R1270H; 3:47086274-47086274	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2900C>T; p.P967L; 3:47120227-47120227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.122C>T; p.S41L; 3:47123005-47123005	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2900C>T; p.P967L; 3:47120227-47120227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2900C>T; p.P967L; 3:47120227-47120227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4362C>T; p.D1454D; 3:47083909-47083909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2326G>A; p.G776R; 3:47120801-47120801	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3075A>T; p.E1025D; 3:47116625-47116625	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2967A>G; p.R989R; 3:47116733-47116733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3545G>T; p.C1182F; 3:47098043-47098043	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5737C>G; p.Q1913E; 3:47037770-47037770	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3206+1G>A; p.?; 3:47113875-47113875	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3816G>A; p.G1272G; 3:47086267-47086267	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2141G>A; p.W714*; 3:47120986-47120986	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5575C>G; p.Q1859E; 3:47046501-47046501	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1625C>A; p.S542*; 3:47121502-47121502	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.2028C>T; p.D676D; 3:47121099-47121099	skin	malignant_melanoma	Substitution - coding silent
c.411T>C; p.F137F; 3:47122716-47122716	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1899A>C; p.G633G; 3:47121228-47121228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3883G>T; p.E1295*; 3:47086200-47086200	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3456_3457insGAAG; p.V1153fs*11; 3:47101507-47101508	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.5879C>A; p.S1960Y; 3:47019803-47019803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.108C>T; p.F36F; 3:47123019-47123019	NS	malignant_melanoma	Substitution - coding silent
c.108C>T; p.F36F; 3:47123019-47123019	NS	malignant_melanoma	Substitution - coding silent
c.4338_4340delACC; p.P1447delP; 3:47083931-47083933	pancreas	carcinoma; ductal_carcinoma	Deletion - In frame
c.4338_4340delACC; p.P1447delP; 3:47083931-47083933	pancreas	carcinoma	Deletion - In frame
c.3038G>A; p.C1013Y; 3:47116662-47116662	kidney	other; neoplasm	Substitution - Missense
c.3422G>A; p.G1141E; 3:47101542-47101542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3904G>T; p.E1302*; 3:47084367-47084367	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2455C>T; p.R819*; 3:47120672-47120672	skin	malignant_melanoma	Substitution - Nonsense
c.2455C>T; p.R819*; 3:47120672-47120672	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3247C>T; p.H1083Y; 3:47106080-47106080	skin	malignant_melanoma	Substitution - Missense
c.2143C>T; p.Q715*; 3:47120984-47120984	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.2455C>T; p.R819*; 3:47120672-47120672	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2993G>C; p.C998S; 3:47116707-47116707	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3038G>T; p.C1013F; 3:47116662-47116662	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2456G>A; p.R819Q; 3:47120671-47120671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6145G>A; p.G2049R; 3:47017134-47017134	large_intestine; colon	carcinoma	Substitution - Missense
c.2456G>A; p.R819Q; 3:47120671-47120671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2993G>C; p.C998S; 3:47116707-47116707	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6145G>A; p.G2049R; 3:47017134-47017134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5063C>T; p.T1688I; 3:47057212-47057212	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5616C>T; p.L1872L; 3:47042674-47042674	breast	carcinoma	Substitution - coding silent
c.2987G>A; p.C996Y; 3:47116713-47116713	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.77G>T; p.R26I; 3:47123050-47123050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1661A>T; p.D554V; 3:47121466-47121466	liver	carcinoma	Substitution - Missense
c.3769_3777delAACACACAC; p.N1257_H1259delNTH; 3:47086306-47086314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.2711G>T; p.R904M; 3:47120416-47120416	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.77G>T; p.R26I; 3:47123050-47123050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1661A>T; p.D554V; 3:47121466-47121466	liver	carcinoma	Substitution - Missense
c.1531G>T; p.G511C; 3:47121596-47121596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5975A>C; p.K1992T; 3:47017687-47017687	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2871G>A; p.W957*; 3:47120256-47120256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5847G>A; p.S1949S; 3:47019835-47019835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3365G>A; p.R1122H; 3:47103389-47103389	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4104C>A; p.D1368E; 3:47084167-47084167	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3206+1G>T; p.?; 3:47113875-47113875	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4935A>G; p.S1645S; 3:47057340-47057340	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3365G>A; p.R1122H; 3:47103389-47103389	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2559delT; p.L854fs*16; 3:47120568-47120568	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2952G>A; p.K984K; 3:47116748-47116748	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2977C>T; p.R993*; 3:47116723-47116723	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5239C>T; p.Q1747*; 3:47057036-47057036	skin	malignant_melanoma	Substitution - Nonsense
c.770T>C; p.L257P; 3:47122357-47122357	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5522T>C; p.V1841A; 3:47046554-47046554	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3797C>A; p.S1266Y; 3:47086286-47086286	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4704T>A; p.N1568K; 3:47062243-47062243	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2268T>C; p.G756G; 3:47120859-47120859	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5442A>C; p.P1814P; 3:47056833-47056833	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.126T>A; p.Y42*; 3:47123001-47123001	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3362C>T; p.S1121F; 3:47103392-47103392	pancreas	carcinoma	Substitution - Missense
c.126T>A; p.Y42*; 3:47123001-47123001	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3059G>A; p.R1020H; 3:47116641-47116641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.126T>A; p.Y42*; 3:47123001-47123001	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3973T>C; p.S1325P; 3:47084298-47084298	kidney	other; neoplasm	Substitution - Missense
c.5461G>A; p.A1821T; 3:47046615-47046615	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>A; p.S8Y; 3:47123104-47123104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5404G>T; p.V1802F; 3:47056871-47056871	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3409T>A; p.W1137R; 3:47101555-47101555	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.819delA; p.E274fs*21; 3:47122308-47122308	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4017G>C; p.G1339G; 3:47084254-47084254	liver	carcinoma	Substitution - coding silent
c.986A>C; p.K329T; 3:47122141-47122141	oesophagus	carcinoma	Substitution - Missense
c.361T>C; p.S121P; 3:47122766-47122766	pancreas	carcinoma	Substitution - Missense
c.5896A>T; p.K1966*; 3:47019786-47019786	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.6104delA; p.H2035fs*26; 3:47017175-47017175	breast	carcinoma	Deletion - Frameshift
c.5584C>T; p.Q1862*; 3:47046492-47046492	pancreas	carcinoma	Substitution - Nonsense
c.1438G>A; p.E480K; 3:47121689-47121689	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6096_6097delTG; p.V2033fs*9; 3:47017182-47017183	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4873G>T; p.E1625*; 3:47057402-47057402	kidney	other; neoplasm	Substitution - Nonsense
c.4846G>A; p.E1616K; 3:47057429-47057429	breast	carcinoma	Substitution - Missense
c.3382T>A; p.C1128S; 3:47103372-47103372	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3017G>C; p.R1006T; 3:47116683-47116683	breast	carcinoma	Substitution - Missense
c.4097A>T; p.D1366V; 3:47084174-47084174	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5080G>C; p.V1694L; 3:47057195-47057195	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3392_3393delAT; p.N1131fs*2; 3:47103361-47103362	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.5636C>T; p.S1879F; 3:47042654-47042654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1583delT; p.V528fs*90; 3:47121544-47121544	skin; face	malignant_melanoma	Deletion - Frameshift
c.3769-1G>T; p.?; 3:47086315-47086315	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1240delA; p.S414fs*5; 3:47121887-47121887	stomach	adenocarcinoma	Deletion - Frameshift
c.3769-1G>T; p.?; 3:47086315-47086315	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3135G>A; p.Q1045Q; 3:47113947-47113947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2425A>T; p.R809*; 3:47120702-47120702	liver	carcinoma	Substitution - Nonsense
c.1795G>T; p.E599*; 3:47121332-47121332	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3183G>C; p.L1061F; 3:47113899-47113899	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1951_1954delGATA; p.D651fs*22; 3:47121173-47121176	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5827G>T; p.E1943*; 3:47037680-47037680	kidney	other; neoplasm	Substitution - Nonsense
c.3506+2T>C; p.?; 3:47101456-47101456	stomach	carcinoma; adenocarcinoma	Unknown
c.1995T>C; p.V665V; 3:47121132-47121132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1731G>A; p.M577I; 3:47121396-47121396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1731G>A; p.M577I; 3:47121396-47121396	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1731G>A; p.M577I; 3:47121396-47121396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3495C>G; p.F1165L; 3:47101469-47101469	breast	carcinoma	Substitution - Missense
c.1731G>A; p.M577I; 3:47121396-47121396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3983A>G; p.K1328R; 3:47084288-47084288	kidney	other; neoplasm	Substitution - Missense
c.1493C>G; p.S498C; 3:47121634-47121634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3371T>G; p.M1124R; 3:47103383-47103383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3757G>T; p.E1253*; 3:47088124-47088124	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3890T>A; p.I1297N; 3:47084381-47084381	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4381G>T; p.E1461*; 3:47083890-47083890	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1830T>G; p.Y610*; 3:47121297-47121297	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3488A>G; p.Y1163C; 3:47101476-47101476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1208C>T; p.P403L; 3:47121919-47121919	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3258T>C; p.F1086F; 3:47106069-47106069	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4349A>T; p.E1450V; 3:47083922-47083922	liver	carcinoma	Substitution - Missense
c.2606_2607insA; p.S870fs*6; 3:47120520-47120521	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.4349A>T; p.E1450V; 3:47083922-47083922	liver	carcinoma	Substitution - Missense
c.170C>A; p.S57*; 3:47122957-47122957	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1768A>C; p.S590R; 3:47121359-47121359	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5686C>T; p.R1896*; 3:47042604-47042604	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2420C>A; p.S807*; 3:47120707-47120707	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5686C>T; p.R1896*; 3:47042604-47042604	breast	carcinoma	Substitution - Nonsense
c.5686C>T; p.R1896*; 3:47042604-47042604	skin	malignant_melanoma	Substitution - Nonsense
c.4905G>A; p.Q1635Q; 3:47057370-47057370	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2593C>T; p.Q865*; 3:47120534-47120534	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.470A>G; p.N157S; 3:47122657-47122657	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3309C>T; p.F1103F; 3:47106018-47106018	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6032_6033insA; p.H2011fs*6; 3:47017246-47017247	breast	carcinoma	Insertion - Frameshift
c.3892A>G; p.I1298V; 3:47084379-47084379	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4567C>T; p.P1523S; 3:47067103-47067103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3700A>G; p.S1234G; 3:47088181-47088181	breast	carcinoma	Substitution - Missense
c.3152T>C; p.V1051A; 3:47113930-47113930	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3190G>A; p.A1064T; 3:47113892-47113892	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3798C>T; p.S1266S; 3:47086285-47086285	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4817G>A; p.R1606Q; 3:47057458-47057458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4885C>T; p.R1629W; 3:47057390-47057390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4817G>A; p.R1606Q; 3:47057458-47057458	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4859A>G; p.K1620R; 3:47057416-47057416	skin; trunk	malignant_melanoma	Substitution - Missense
c.820G>T; p.E274*; 3:47122307-47122307	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4426C>T; p.P1476S; 3:47083845-47083845	skin	malignant_melanoma	Substitution - Missense
c.2480C>T; p.S827F; 3:47120647-47120647	skin	malignant_melanoma	Substitution - Missense
c.3244G>A; p.D1082N; 3:47106083-47106083	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3836G>A; p.W1279*; 3:47086247-47086247	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5509C>T; p.H1837Y; 3:47046567-47046567	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2945+1G>C; p.?; 3:47120181-47120181	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3403C>A; p.Q1135K; 3:47103351-47103351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4699C>T; p.Q1567*; 3:47062248-47062248	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3299A>G; p.H1100R; 3:47106028-47106028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.455T>A; p.L152*; 3:47122672-47122672	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.455T>A; p.L152*; 3:47122672-47122672	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.774G>A; p.M258I; 3:47122353-47122353	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2668T>G; p.L890V; 3:47120459-47120459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.774G>A; p.M258I; 3:47122353-47122353	liver	carcinoma	Substitution - Missense
c.774G>A; p.M258I; 3:47122353-47122353	liver	carcinoma	Substitution - Missense
c.2300C>T; p.T767M; 3:47120827-47120827	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2263T>G; p.L755V; 3:47120864-47120864	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2300C>T; p.T767M; 3:47120827-47120827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5365C>T; p.Q1789*; 3:47056910-47056910	central_nervous_system; brain	glioma	Substitution - Nonsense
c.3507-1G>C; p.?; 3:47098082-47098082	lung	carcinoma; adenocarcinoma	Unknown
c.6115G>A; p.E2039K; 3:47017164-47017164	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6115G>A; p.E2039K; 3:47017164-47017164	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3265C>T; p.R1089*; 3:47106062-47106062	bone; femur	chondrosarcoma	Substitution - Nonsense
c.6115G>A; p.E2039K; 3:47017164-47017164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3384T>C; p.C1128C; 3:47103370-47103370	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3384T>C; p.C1128C; 3:47103370-47103370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3384T>C; p.C1128C; 3:47103370-47103370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3384T>C; p.C1128C; 3:47103370-47103370	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3377A>G; p.H1126R; 3:47103377-47103377	liver	carcinoma	Substitution - Missense
c.3377A>G; p.H1126R; 3:47103377-47103377	liver	carcinoma	Substitution - Missense
c.3937G>T; p.E1313*; 3:47084334-47084334	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.612_627del16; p.S205fs*54; 3:47122500-47122515	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1376C>T; p.A459V; 3:47121751-47121751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4526T>G; p.L1509R; 3:47083745-47083745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3356A>T; p.N1119I; 3:47103398-47103398	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.376A>G; p.K126E; 3:47122751-47122751	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3364C>T; p.R1122C; 3:47103390-47103390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.5204C>T; p.S1735F; 3:47057071-47057071	skin	malignant_melanoma	Substitution - Missense
c.1006A>T; p.R336*; 3:47122121-47122121	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6020G>C; p.R2007P; 3:47017642-47017642	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3769-1G>A; p.?; 3:47086315-47086315	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3364C>T; p.R1122C; 3:47103390-47103390	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5204C>T; p.S1735F; 3:47057071-47057071	skin	malignant_melanoma	Substitution - Missense
c.4G>T; p.E2*; 3:47123123-47123123	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5318A>G; p.N1773S; 3:47056957-47056957	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4862T>A; p.L1621*; 3:47057413-47057413	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.6029C>T; p.T2010I; 3:47017250-47017250	kidney	other; neoplasm	Substitution - Missense
c.5629C>G; p.P1877A; 3:47042661-47042661	skin	malignant_melanoma	Substitution - Missense
c.5376A>G; p.I1792M; 3:47056899-47056899	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3378C>A; p.H1126Q; 3:47103376-47103376	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2062A>C; p.K688Q; 3:47121065-47121065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4736C>T; p.S1579L; 3:47062211-47062211	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3588A>G; p.A1196A; 3:47098000-47098000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3588A>G; p.A1196A; 3:47098000-47098000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3038G>C; p.C1013S; 3:47116662-47116662	kidney	other; neoplasm	Substitution - Missense
c.3738_3739delGC; p.Q1247fs*38; 3:47088142-47088143	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2637T>C; p.A879A; 3:47120490-47120490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2637T>C; p.A879A; 3:47120490-47120490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2637T>C; p.A879A; 3:47120490-47120490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2637T>C; p.A879A; 3:47120490-47120490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2637T>C; p.A879A; 3:47120490-47120490	large_intestine; rectum	NS	Substitution - coding silent
c.4462G>T; p.E1488*; 3:47083809-47083809	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2637T>C; p.A879A; 3:47120490-47120490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2999C>T; p.P1000L; 3:47116701-47116701	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2999C>T; p.P1000L; 3:47116701-47116701	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2841C>T; p.V947V; 3:47120286-47120286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3976C>T; p.Q1326*; 3:47084295-47084295	skin	malignant_melanoma	Substitution - Nonsense
c.3976C>T; p.Q1326*; 3:47084295-47084295	kidney	other; neoplasm	Substitution - Nonsense
c.3634-1G>A; p.?; 3:47088248-47088248	lung	carcinoma; adenocarcinoma	Unknown
c.4775C>T; p.P1592L; 3:47062172-47062172	skin	malignant_melanoma	Substitution - Missense
c.3113A>G; p.N1038S; 3:47113969-47113969	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2905_2906insA; p.Y969fs*1; 3:47120221-47120222	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.349C>T; p.R117*; 3:47122778-47122778	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4280C>A; p.P1427Q; 3:47083991-47083991	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3113A>G; p.N1038S; 3:47113969-47113969	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.I79I; 3:47122890-47122890	skin	malignant_melanoma	Substitution - coding silent
c.4409delC; p.P1470fs*33; 3:47083862-47083862	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.349C>T; p.R117*; 3:47122778-47122778	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3968G>A; p.R1323H; 3:47084303-47084303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2246C>G; p.S749*; 3:47120881-47120881	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3968G>A; p.R1323H; 3:47084303-47084303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3680C>T; p.S1227F; 3:47088201-47088201	skin	malignant_melanoma	Substitution - Missense
c.3837G>A; p.W1279*; 3:47086246-47086246	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4562G>C; p.R1521P; 3:47067108-47067108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2782G>A; p.V928I; 3:47120345-47120345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.344C>G; p.S115*; 3:47122783-47122783	breast	carcinoma	Substitution - Nonsense
c.3460C>T; p.P1154S; 3:47101504-47101504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4833delT; p.N1611fs*33; 3:47057442-47057442	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3266G>A; p.R1089Q; 3:47106061-47106061	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.344C>G; p.S115*; 3:47122783-47122783	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.672C>A; p.C224*; 3:47122455-47122455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3337G>A; p.D1113N; 3:47103417-47103417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4001T>A; p.L1334*; 3:47084270-47084270	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1184T>G; p.L395W; 3:47121943-47121943	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.C397Y; 3:47121937-47121937	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3464C>T; p.S1155L; 3:47101500-47101500	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5537C>G; p.A1846G; 3:47046539-47046539	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3613C>T; p.R1205*; 3:47097975-47097975	pancreas	carcinoma	Substitution - Nonsense
c.3464C>T; p.S1155L; 3:47101500-47101500	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3337G>A; p.D1113N; 3:47103417-47103417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6024G>A; p.K2008K; 3:47017638-47017638	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1054A>T; p.S352C; 3:47122073-47122073	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2388C>T; p.Y796Y; 3:47120739-47120739	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3152T>G; p.V1051G; 3:47113930-47113930	kidney	carcinoma	Substitution - Missense
c.4970delC; p.P1657fs*88; 3:47057305-47057305	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4600+3A>T; p.?; 3:47067067-47067067	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.110G>A; p.R37Q; 3:47123017-47123017	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3411G>T; p.W1137C; 3:47101553-47101553	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1438G>T; p.E480*; 3:47121689-47121689	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5634delC; p.S1879fs*29; 3:47042656-47042656	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.61A>C; p.N21H; 3:47123066-47123066	breast	carcinoma	Substitution - Missense
c.1981C>T; p.Q661*; 3:47121146-47121146	breast	carcinoma	Substitution - Nonsense
c.2494C>T; p.R832C; 3:47120633-47120633	skin	malignant_melanoma	Substitution - Missense
c.5841+1G>C; p.?; 3:47037665-47037665	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4473G>C; p.R1491S; 3:47083798-47083798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4625_4626insT; p.G1543fs*13; 3:47062321-47062322	liver	carcinoma	Insertion - Frameshift
c.229G>T; p.E77*; 3:47122898-47122898	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5989_5991delACC; p.T1999delT; 3:47017671-47017673	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.3936G>T; p.L1312F; 3:47084335-47084335	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5927C>T; p.S1976F; 3:47017735-47017735	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3439T>G; p.F1147V; 3:47101525-47101525	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6108_6114delAACCAAG; p.T2037fs*22; 3:47017165-47017171	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1313delA; p.K438fs*41; 3:47121814-47121814	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.624C>T; p.V208V; 3:47122503-47122503	breast	carcinoma	Substitution - coding silent
c.1425A>C; p.E475D; 3:47121702-47121702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2866C>T; p.R956*; 3:47120261-47120261	central_nervous_system; occipital_lobe	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1757G>A; p.R586Q; 3:47121370-47121370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2635G>T; p.A879S; 3:47120492-47120492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3109T>C; p.S1037P; 3:47113973-47113973	skin	malignant_melanoma	Substitution - Missense
c.1191C>T; p.C397C; 3:47121936-47121936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3109T>C; p.S1037P; 3:47113973-47113973	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5256_5263delTGTCTTGC; p.V1753fs*13; 3:47057012-47057019	breast	carcinoma	Deletion - Frameshift
c.1688T>A; p.L563H; 3:47121439-47121439	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5905G>A; p.E1969K; 3:47019777-47019777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2769A>G; p.K923K; 3:47120358-47120358	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5357C>G; p.A1786G; 3:47056918-47056918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1678A>T; p.R560*; 3:47121449-47121449	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3809G>T; p.R1270L; 3:47086274-47086274	liver	carcinoma	Substitution - Missense
c.3446C>T; p.T1149I; 3:47101518-47101518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3809G>T; p.R1270L; 3:47086274-47086274	liver	carcinoma	Substitution - Missense
c.3444delT; p.F1148fs*12; 3:47101520-47101520	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3446C>T; p.T1149I; 3:47101518-47101518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2941G>T; p.E981*; 3:47120186-47120186	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.584C>T; p.S195F; 3:47122543-47122543	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2266G>T; p.G756C; 3:47120861-47120861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4713A>G; p.K1571K; 3:47062234-47062234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478C>G; p.S493*; 3:47121649-47121649	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4562G>A; p.R1521Q; 3:47067108-47067108	breast	carcinoma	Substitution - Missense
c.3421G>T; p.G1141*; 3:47101543-47101543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3421G>T; p.G1141*; 3:47101543-47101543	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3421G>T; p.G1141*; 3:47101543-47101543	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.5019T>A; p.Y1673*; 3:47057256-47057256	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.112C>T; p.R38*; 3:47123015-47123015	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.289T>G; p.L97V; 3:47122838-47122838	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5351_5352insAT; p.P1785fs*22; 3:47056923-47056924	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.5629_5635CCCCCCT>CCCCCCCT; p.P1877fs; 3:47042655-47042661	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.5629_5635CCCCCCT>CCCCCCCT; p.P1877fs; 3:47042655-47042661	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.1731G>T; p.M577I; 3:47121396-47121396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1116delG; p.S373fs*15; 3:47122011-47122011	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1850_1853delTAGC; p.I617fs*33; 3:47121274-47121277	kidney	carcinoma	Deletion - Frameshift
c.5462C>T; p.A1821V; 3:47046614-47046614	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.1085A>G; p.N362S; 3:47122042-47122042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3985A>T; p.T1329S; 3:47084286-47084286	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3338A>G; p.D1113G; 3:47103416-47103416	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3338A>G; p.D1113G; 3:47103416-47103416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3330+2T>C; p.?; 3:47105995-47105995	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.5037T>C; p.P1679P; 3:47057238-47057238	prostate	carcinoma	Substitution - coding silent
c.170C>G; p.S57*; 3:47122957-47122957	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3330+2T>C; p.?; 3:47105995-47105995	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2365C>T; p.Q789*; 3:47120762-47120762	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2217G>T; p.E739D; 3:47120910-47120910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5066C>A; p.P1689H; 3:47057209-47057209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3824delT; p.L1275fs*9; 3:47086259-47086259	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1470T>G; p.S490S; 3:47121657-47121657	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5599G>T; p.V1867F; 3:47042691-47042691	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5463C>G; p.A1821A; 3:47046613-47046613	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3587C>T; p.A1196V; 3:47098001-47098001	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1958G>A; p.R653H; 3:47121169-47121169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5923-2A>T; p.?; 3:47017741-47017741	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.5752A>G; p.T1918A; 3:47037755-47037755	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5923-2A>T; p.?; 3:47017741-47017741	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4472G>A; p.R1491K; 3:47083799-47083799	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3321G>T; p.K1107N; 3:47106006-47106006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3093_3120del28; p.N1032fs*21; 3:47113962-47113989	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.6020G>A; p.R2007H; 3:47017642-47017642	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3383G>A; p.C1128Y; 3:47103371-47103371	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3628G>T; p.D1210Y; 3:47097960-47097960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3383G>A; p.C1128Y; 3:47103371-47103371	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4721G>A; p.R1574Q; 3:47062226-47062226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3485A>T; p.D1162V; 3:47101479-47101479	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3485A>T; p.D1162V; 3:47101479-47101479	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4721G>A; p.R1574Q; 3:47062226-47062226	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2562_2563ins17; p.L855fs*21; 3:47120564-47120565	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.4706_4707delAA; p.K1569fs*17; 3:47062240-47062241	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3467G>T; p.G1156V; 3:47101497-47101497	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4885_4885delC; p.R1629fs*15; 3:47057390-47057390	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1598A>C; p.E533A; 3:47121529-47121529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5110C>G; p.Q1704E; 3:47057165-47057165	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3352G>A; p.G1118R; 3:47103402-47103402	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4398delA; p.K1466fs*2; 3:47083873-47083873	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4493_4497delAAACA; p.K1498fs*5; 3:47083774-47083778	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.6071C>A; p.P2024H; 3:47017208-47017208	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1408A>T; p.R470*; 3:47121719-47121719	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5242G>C; p.D1748H; 3:47057033-47057033	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.789G>A; p.M263I; 3:47122338-47122338	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.935C>A; p.S312*; 3:47122192-47122192	breast	carcinoma	Substitution - Nonsense
c.1905G>C; p.E635D; 3:47121222-47121222	thyroid	carcinoma	Substitution - Missense
c.4539G>T; p.W1513C; 3:47083732-47083732	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4670C>G; p.S1557*; 3:47062277-47062277	central_nervous_system; brain	glioma	Substitution - Nonsense
c.4539G>T; p.W1513C; 3:47083732-47083732	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4856G>A; p.R1619Q; 3:47057419-47057419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4882C>T; p.Q1628*; 3:47057393-47057393	kidney	other; neoplasm	Substitution - Nonsense
c.1311delA; p.K438fs*41; 3:47121816-47121816	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3275A>T; p.E1092V; 3:47106052-47106052	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1340G>A; p.R447H; 3:47121787-47121787	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2923G>T; p.E975*; 3:47120204-47120204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4609C>T; p.R1537*; 3:47062338-47062338	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.4376C>T; p.P1459L; 3:47083895-47083895	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>A; p.E136K; 3:47122721-47122721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4609C>T; p.R1537*; 3:47062338-47062338	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.406G>A; p.E136K; 3:47122721-47122721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3382T>C; p.C1128R; 3:47103372-47103372	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6058T>C; p.Y2020H; 3:47017221-47017221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2108C>T; p.S703F; 3:47121019-47121019	skin	malignant_melanoma	Substitution - Missense
c.3365G>T; p.R1122L; 3:47103389-47103389	breast	carcinoma	Substitution - Missense
c.1147C>G; p.L383V; 3:47121980-47121980	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1147C>G; p.L383V; 3:47121980-47121980	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5551A>G; p.T1851A; 3:47046525-47046525	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5730-2A>T; p.?; 3:47037779-47037779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.6115G>C; p.E2039Q; 3:47017164-47017164	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5730-2A>T; p.?; 3:47037779-47037779	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.5815_5816insC; p.T1940fs*3; 3:47037691-47037692	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]