Entrez Gene

Basic Information
Gene ID	196528
Name	ARID2
Synonymous	AT rich interactive domain 2 (ARID, RFX-like);ARID2;AT rich interactive domain 2 (ARID, RFX-like)
Definition	ARID domain-containing protein 2\|AT-rich interactive domain-containing protein 2\|BRG1-associated factor 200\|zinc finger protein with activation potential\|zipzap\|zipzap/p200
Position	12q12
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 0.45.

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.5022delT; p.Q1676fs*25; 12:45891879-45891879	liver	carcinoma	Deletion - Frameshift
c.3953_3954insG; p.C1319fs*6; 12:45852076-45852077	breast	carcinoma	Insertion - Frameshift
c.15G>A; p.T5T; 12:45729851-45729851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.520G>T; p.D174Y; 12:45817771-45817771	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4576delA; p.T1526fs*9; 12:45852699-45852699	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.5482G>C; p.E1828Q; 12:45905052-45905052	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1126G>T; p.E376*; 12:45837503-45837503	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4016_4017delAG; p.N1340fs*12; 12:45852139-45852140	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.4909C>T; p.Q1637*; 12:45860936-45860936	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Nonsense
c.4909C>T; p.Q1637*; 12:45860936-45860936	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.3298C>T; p.Q1100*; 12:45851421-45851421	skin	malignant_melanoma	Substitution - Nonsense
c.5272-1G>T; p.?; 12:45893629-45893629	stomach	carcinoma; adenocarcinoma	Unknown
c.5269A>G; p.T1757A; 12:45893541-45893541	liver	carcinoma	Substitution - Missense
c.1715+5G>C; p.?; 12:45848975-45848975	pancreas	carcinoma	Unknown
c.4391G>A; p.R1464H; 12:45852514-45852514	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4076A>G; p.N1359S; 12:45852199-45852199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1397A>C; p.K466T; 12:45839395-45839395	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4510C>T; p.R1504W; 12:45852633-45852633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3352C>T; p.Q1118*; 12:45851475-45851475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.928C>T; p.R310C; 12:45836896-45836896	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2226T>C; p.S742S; 12:45850349-45850349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4425C>T; p.T1475T; 12:45852548-45852548	skin	malignant_melanoma	Substitution - coding silent
c.3592C>G; p.P1198A; 12:45851715-45851715	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700G>A; p.V234I; 12:45821482-45821482	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.R274*; 12:45836788-45836788	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.5348C>A; p.S1783*; 12:45893706-45893706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.1056T>C; p.T352T; 12:45837353-45837353	liver	carcinoma	Substitution - coding silent
c.4000G>T; p.G1334*; 12:45852123-45852123	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.5272-1G>A; p.?; 12:45893629-45893629	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.4241G>T; p.R1414I; 12:45852364-45852364	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1651delT; p.S551fs*6; 12:45848906-45848906	skin; neck	malignant_melanoma	Deletion - Frameshift
c.3025G>A; p.V1009M; 12:45851148-45851148	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5148G>A; p.K1716K; 12:45893420-45893420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3482C>T; p.A1161V; 12:45851605-45851605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3091C>T; p.Q1031*; 12:45851214-45851214	thyroid	carcinoma	Substitution - Nonsense
c.3497G>T; p.G1166V; 12:45851620-45851620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4062A>G; p.R1354R; 12:45852185-45852185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.953delT; p.S319fs*9; 12:45836921-45836921	liver	carcinoma	Deletion - Frameshift
c.1467C>T; p.V489V; 12:45839465-45839465	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.155C>T; p.T52I; 12:45730106-45730106	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2455C>T; p.Q819*; 12:45850578-45850578	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2455C>T; p.Q819*; 12:45850578-45850578	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.678A>G; p.K226K; 12:45821460-45821460	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3474delT; p.N1158fs*15; 12:45851597-45851597	liver	carcinoma	Deletion - Frameshift
c.2649C>G; p.V883V; 12:45850772-45850772	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3287A>G; p.Q1096R; 12:45851410-45851410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.94T>A; p.S32T; 12:45730045-45730045	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4717delG; p.A1573fs*53; 12:45852840-45852840	liver	carcinoma	Deletion - Frameshift
c.4644C>T; p.G1548G; 12:45852767-45852767	oesophagus	carcinoma	Substitution - coding silent
c.4582G>A; p.A1528T; 12:45852705-45852705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1805G>T; p.R602M; 12:45849669-45849669	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.193G>T; p.E65*; 12:45731223-45731223	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.3670C>G; p.P1224A; 12:45851793-45851793	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4825A>G; p.S1609G; 12:45860852-45860852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1499-1G>A; p.?; 12:45846855-45846855	skin; face	carcinoma; squamous_cell_carcinoma	Unknown
c.4651G>A; p.A1551T; 12:45852774-45852774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.493C>T; p.L165L; 12:45817744-45817744	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2761C>T; p.P921S; 12:45850884-45850884	skin	malignant_melanoma	Substitution - Missense
c.1825C>T; p.Q609*; 12:45849689-45849689	skin	malignant_melanoma	Substitution - Nonsense
c.2495C>A; p.S832*; 12:45850618-45850618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2500C>T; p.Q834*; 12:45850623-45850623	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.881G>A; p.R294K; 12:45836849-45836849	skin	malignant_melanoma	Substitution - Missense
c.2169_2170insC; p.Q725fs*7; 12:45850292-45850293	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.4328G>A; p.S1443N; 12:45852451-45852451	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1825C>T; p.Q609*; 12:45849689-45849689	skin	malignant_melanoma	Substitution - Nonsense
c.5001T>G; p.C1667W; 12:45891858-45891858	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4591C>T; p.P1531S; 12:45852714-45852714	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5001T>G; p.C1667W; 12:45891858-45891858	liver	carcinoma	Substitution - Missense
c.1349delT; p.S451fs*12; 12:45839347-45839347	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3445C>T; p.Q1149*; 12:45851568-45851568	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3937C>T; p.Q1313*; 12:45852060-45852060	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1561G>A; p.E521K; 12:45846918-45846918	breast	carcinoma	Substitution - Missense
c.1653G>A; p.S551S; 12:45848908-45848908	breast	carcinoma	Substitution - coding silent
c.961C>T; p.H321Y; 12:45836929-45836929	liver	carcinoma	Substitution - Missense
c.284+1G>A; p.?; 12:45731315-45731315	skin	malignant_melanoma	Unknown
c.961C>T; p.H321Y; 12:45836929-45836929	liver	carcinoma	Substitution - Missense
c.2543_2544insT; p.A849fs*102; 12:45850666-45850667	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.3937C>T; p.Q1313*; 12:45852060-45852060	skin	malignant_melanoma	Substitution - Nonsense
c.2543_2544insT; p.A849fs*102; 12:45850666-45850667	liver	carcinoma	Insertion - Frameshift
c.3937C>T; p.Q1313*; 12:45852060-45852060	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3937C>T; p.Q1313*; 12:45852060-45852060	skin; face	malignant_melanoma	Substitution - Nonsense
c.1868delG; p.R623fs*24; 12:45849732-45849732	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.1653G>A; p.S551S; 12:45848908-45848908	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1120+8T>G; p.?; 12:45837425-45837425	liver	carcinoma	Unknown
c.3102A>G; p.Q1034Q; 12:45851225-45851225	pancreas	carcinoma	Substitution - coding silent
c.881G>T; p.R294I; 12:45836849-45836849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5026C>T; p.Q1676*; 12:45891883-45891883	skin	malignant_melanoma	Substitution - Nonsense
c.881G>T; p.R294I; 12:45836849-45836849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>A; p.A384E; 12:45837528-45837528	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.5380G>T; p.E1794*; 12:45904950-45904950	skin	malignant_melanoma	Substitution - Nonsense
c.4999T>C; p.C1667R; 12:45891856-45891856	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1120+1G>A; p.?; 12:45837418-45837418	lung	carcinoma; adenocarcinoma	Unknown
c.2872C>T; p.Q958*; 12:45850995-45850995	skin; back	malignant_melanoma	Substitution - Nonsense
c.535G>T; p.V179L; 12:45817786-45817786	NS	NS	Substitution - Missense
c.310C>A; p.H104N; 12:45811443-45811443	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2158C>T; p.Q720*; 12:45850281-45850281	skin	malignant_melanoma	Substitution - Nonsense
c.2872C>T; p.Q958*; 12:45850995-45850995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1715G>T; p.R572I; 12:45848970-45848970	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.875delT; p.L293fs*1; 12:45836843-45836843	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5203A>T; p.N1735Y; 12:45893475-45893475	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3540G>A; p.T1180T; 12:45851663-45851663	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.2902A>T; p.I968L; 12:45851025-45851025	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4427C>T; p.S1476F; 12:45852550-45852550	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2110C>G; p.Q704E; 12:45850233-45850233	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4427C>T; p.S1476F; 12:45852550-45852550	liver	carcinoma	Substitution - Missense
c.3001C>T; p.P1001S; 12:45851124-45851124	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.211G>T; p.E71*; 12:45731241-45731241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.211G>T; p.E71*; 12:45731241-45731241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1951C>T; p.Q651*; 12:45850074-45850074	liver	carcinoma	Substitution - Nonsense
c.3433_3434insT; p.S1146fs*14; 12:45851556-45851557	liver	carcinoma	Insertion - Frameshift
c.3913C>T; p.P1305S; 12:45852036-45852036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1095delA; p.R366fs*5; 12:45837392-45837392	liver	carcinoma	Deletion - Frameshift
c.716A>T; p.D239V; 12:45836599-45836599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5417A>T; p.E1806V; 12:45904987-45904987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4145C>G; p.S1382C; 12:45852268-45852268	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2743A>G; p.I915V; 12:45850866-45850866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.285T>C; p.R95R; 12:45811418-45811418	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352C>G; p.S451C; 12:45839350-45839350	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2308C>T; p.P770S; 12:45850431-45850431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3149G>C; p.G1050A; 12:45851272-45851272	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2324T>C; p.L775S; 12:45850447-45850447	liver	carcinoma	Substitution - Missense
c.4390C>T; p.R1464C; 12:45852513-45852513	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1979C>A; p.S660*; 12:45850102-45850102	pleura	pulmonary_blastoma	Substitution - Nonsense
c.699C>T; p.F233F; 12:45821481-45821481	skin	malignant_melanoma	Substitution - coding silent
c.3429G>A; p.V1143V; 12:45851552-45851552	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.699C>T; p.F233F; 12:45821481-45821481	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1764_1765insAAT; p.N589_G590insN; 12:45849628-45849629	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.4509T>G; p.V1503V; 12:45852632-45852632	skin	malignant_melanoma	Substitution - coding silent
c.5260C>T; p.R1754*; 12:45893532-45893532	liver	carcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	skin	malignant_melanoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	skin	malignant_melanoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	skin	malignant_melanoma	Substitution - Nonsense
c.5260C>T; p.R1754*; 12:45893532-45893532	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Nonsense
c.5260C>T; p.R1754*; 12:45893532-45893532	liver	carcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	central_nervous_system; brain	glioma	Substitution - Nonsense
c.966T>C; p.S322S; 12:45836934-45836934	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5260C>T; p.R1754*; 12:45893532-45893532	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3817C>A; p.R1273R; 12:45851940-45851940	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2680C>T; p.Q894*; 12:45850803-45850803	skin; back	malignant_melanoma	Substitution - Nonsense
c.2680C>T; p.Q894*; 12:45850803-45850803	skin	malignant_melanoma	Substitution - Nonsense
c.925A>G; p.N309D; 12:45836893-45836893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1592A>G; p.H531R; 12:45848847-45848847	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.103delA; p.I37fs*21; 12:45730054-45730054	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.1468C>T; p.Q490*; 12:45839466-45839466	skin	malignant_melanoma	Substitution - Nonsense
c.103delA; p.I37fs*21; 12:45730054-45730054	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin; back	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.4531G>T; p.E1511*; 12:45852654-45852654	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.5219C>T; p.A1740V; 12:45893491-45893491	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.4858C>T; p.Q1620*; 12:45860885-45860885	breast	carcinoma	Substitution - Nonsense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.4531G>T; p.E1511*; 12:45852654-45852654	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4487C>T; p.S1496F; 12:45852610-45852610	skin	malignant_melanoma	Substitution - Missense
c.1911A>T; p.A637A; 12:45849775-45849775	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3559G>A; p.V1187M; 12:45851682-45851682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>G; p.E74E; 12:45731252-45731252	thyroid	carcinoma	Substitution - coding silent
c.862C>T; p.Q288*; 12:45836830-45836830	skin	malignant_melanoma	Substitution - Nonsense
c.1801C>T; p.R601W; 12:45849665-45849665	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2404T>C; p.F802L; 12:45850527-45850527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607_1608delCA; p.P536fs*12; 12:45848862-45848863	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2296C>T; p.P766S; 12:45850419-45850419	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5147+1G>A; p.?; 12:45892097-45892097	skin; lower_leg	malignant_melanoma	Unknown
c.4061G>A; p.R1354K; 12:45852184-45852184	skin	malignant_melanoma	Substitution - Missense
c.3799G>T; p.E1267*; 12:45851922-45851922	pancreas	carcinoma	Substitution - Nonsense
c.3438G>A; p.S1146S; 12:45851561-45851561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5305C>T; p.R1769*; 12:45893663-45893663	skin	malignant_melanoma	Substitution - Nonsense
c.3438G>A; p.S1146S; 12:45851561-45851561	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5305C>T; p.R1769*; 12:45893663-45893663	liver	carcinoma	Substitution - Nonsense
c.3374delA; p.N1126fs*30; 12:45851497-45851497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.335A>C; p.E112A; 12:45811468-45811468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1344T>C; p.C448C; 12:45839342-45839342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.457delA; p.N153fs*62; 12:45817708-45817708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.5239G>T; p.G1747*; 12:45893511-45893511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1917C>T; p.I639I; 12:45850040-45850040	skin	malignant_melanoma	Substitution - coding silent
c.854G>A; p.R285Q; 12:45836822-45836822	breast	carcinoma	Substitution - Missense
c.854G>A; p.R285Q; 12:45836822-45836822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>A; p.R285Q; 12:45836822-45836822	pancreas	carcinoma	Substitution - Missense
c.854G>A; p.R285Q; 12:45836822-45836822	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1716-2A>G; p.?; 12:45849578-45849578	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.854G>A; p.R285Q; 12:45836822-45836822	skin	malignant_melanoma	Substitution - Missense
c.3778G>T; p.E1260*; 12:45851901-45851901	skin	malignant_melanoma	Substitution - Nonsense
c.161T>C; p.V54A; 12:45730112-45730112	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1758C>T; p.S586S; 12:45849622-45849622	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.3121C>T; p.Q1041*; 12:45851244-45851244	skin	malignant_melanoma	Substitution - Nonsense
c.3121C>T; p.Q1041*; 12:45851244-45851244	skin	malignant_melanoma	Substitution - Nonsense
c.706-1G>T; p.?; 12:45836588-45836588	lung	carcinoma; adenocarcinoma	Unknown
c.1507_1508insAG; p.A503fs*4; 12:45846864-45846865	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.103A>T; p.K35*; 12:45730054-45730054	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.103A>T; p.K35*; 12:45730054-45730054	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1716-1G>A; p.?; 12:45849579-45849579	pancreas	carcinoma	Unknown
c.2872_2873insA; p.T959fs*9; 12:45850995-45850996	skin; trunk	malignant_melanoma	Insertion - Frameshift
c.1716-1G>A; p.?; 12:45849579-45849579	skin	malignant_melanoma	Unknown
c.1716-1G>A; p.?; 12:45849579-45849579	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1716-1G>A; p.?; 12:45849579-45849579	pancreas	carcinoma	Unknown
c.2220G>C; p.Q740H; 12:45850343-45850343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2872_2873insA; p.T959fs*9; 12:45850995-45850996	skin; trunk	malignant_melanoma	Insertion - Frameshift
c.1716-1G>A; p.?; 12:45849579-45849579	pancreas	carcinoma; ductal_carcinoma	Unknown
c.81delC; p.H28fs*30; 12:45729917-45729917	liver	carcinoma	Deletion - Frameshift
c.588T>C; p.D196D; 12:45817839-45817839	pancreas	carcinoma	Substitution - coding silent
c.535G>A; p.V179I; 12:45817786-45817786	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2438delC; p.S813fs*9; 12:45850561-45850561	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.3457G>T; p.G1153C; 12:45851580-45851580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3023C>A; p.S1008Y; 12:45851146-45851146	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5183G>C; p.R1728T; 12:45893455-45893455	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2881C>T; p.Q961*; 12:45851004-45851004	skin	malignant_melanoma	Substitution - Nonsense
c.2881C>T; p.Q961*; 12:45851004-45851004	skin	malignant_melanoma	Substitution - Nonsense
c.1006G>T; p.G336*; 12:45836974-45836974	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1006G>T; p.G336*; 12:45836974-45836974	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1006G>T; p.G336*; 12:45836974-45836974	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4196T>G; p.L1399*; 12:45852319-45852319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1561G>T; p.E521*; 12:45846918-45846918	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.994C>T; p.L332F; 12:45836962-45836962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2591C>T; p.A864V; 12:45850714-45850714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1113G>C; p.K371N; 12:45837410-45837410	breast	carcinoma	Substitution - Missense
c.1397A>G; p.K466R; 12:45839395-45839395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5062G>A; p.D1688N; 12:45892011-45892011	skin	malignant_melanoma	Substitution - Missense
c.1795G>A; p.V599I; 12:45849659-45849659	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1397A>G; p.K466R; 12:45839395-45839395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298G>T; p.C433F; 12:45837675-45837675	liver	carcinoma	Substitution - Missense
c.2969C>T; p.S990L; 12:45851092-45851092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3806C>T; p.P1269L; 12:45851929-45851929	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>A; p.W225*; 12:45821457-45821457	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2969C>T; p.S990L; 12:45851092-45851092	skin	malignant_melanoma	Substitution - Missense
c.2134G>T; p.E712*; 12:45850257-45850257	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.4427_4428insT; p.V1477fs*26; 12:45852550-45852551	liver	carcinoma	Insertion - Frameshift
c.2134G>T; p.E712*; 12:45850257-45850257	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.4060A>G; p.R1354G; 12:45852183-45852183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.R1354G; 12:45852183-45852183	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4022C>G; p.S1341*; 12:45852145-45852145	breast	carcinoma	Substitution - Nonsense
c.1715+1G>A; p.?; 12:45848971-45848971	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.2357G>C; p.G786A; 12:45850480-45850480	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1419C>T; p.S473S; 12:45839417-45839417	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2392C>T; p.Q798*; 12:45850515-45850515	liver	carcinoma	Substitution - Nonsense
c.5062-1G>A; p.?; 12:45892010-45892010	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.1715+1G>A; p.?; 12:45848971-45848971	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.2392C>T; p.Q798*; 12:45850515-45850515	liver	carcinoma	Substitution - Nonsense
c.4819C>T; p.P1607S; 12:45860846-45860846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4819C>T; p.P1607S; 12:45860846-45860846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>T; p.E469*; 12:45839403-45839403	pancreas	carcinoma	Substitution - Nonsense
c.4929T>C; p.F1643F; 12:45891786-45891786	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.366T>G; p.L122L; 12:45811499-45811499	skin	malignant_melanoma	Substitution - coding silent
c.5459T>G; p.F1820C; 12:45905029-45905029	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1142T>A; p.L381H; 12:45837519-45837519	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.187-1G>A; p.?; 12:45731216-45731216	liver	carcinoma	Unknown
c.3286C>T; p.Q1096*; 12:45851409-45851409	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.739C>A; p.R247S; 12:45836622-45836622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1928C>A; p.S643*; 12:45850051-45850051	liver	carcinoma	Substitution - Nonsense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.430C>T; p.Q144*; 12:45817681-45817681	skin; nipple	malignant_melanoma	Substitution - Nonsense
c.2225C>T; p.S742F; 12:45850348-45850348	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.430C>T; p.Q144*; 12:45817681-45817681	breast	carcinoma	Substitution - Nonsense
c.1787T>A; p.V596E; 12:45849651-45849651	skin	malignant_melanoma	Substitution - Missense
c.266T>G; p.L89*; 12:45731296-45731296	liver	carcinoma	Substitution - Nonsense
c.1802G>A; p.R601Q; 12:45849666-45849666	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1972C>T; p.Q658*; 12:45850095-45850095	skin	malignant_melanoma	Substitution - Nonsense
c.1398A>G; p.K466K; 12:45839396-45839396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1398A>G; p.K466K; 12:45839396-45839396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1398A>G; p.K466K; 12:45839396-45839396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3201A>G; p.K1067K; 12:45851324-45851324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4068G>A; p.P1356P; 12:45852191-45852191	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1023G>C; p.E341D; 12:45836991-45836991	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.963T>C; p.H321H; 12:45836931-45836931	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.595A>G; p.I199V; 12:45817846-45817846	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1641T>C; p.S547S; 12:45848896-45848896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2337A>T; p.V779V; 12:45850460-45850460	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2337A>T; p.V779V; 12:45850460-45850460	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.371T>G; p.I124S; 12:45811504-45811504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4535_4545del11; p.C1512fs*1; 12:45852658-45852668	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2681A>G; p.Q894R; 12:45850804-45850804	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1354A>G; p.M452V; 12:45839352-45839352	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1867C>T; p.R623C; 12:45849731-45849731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3127C>T; p.Q1043*; 12:45851250-45851250	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3127C>T; p.Q1043*; 12:45851250-45851250	skin; abdomen	malignant_melanoma	Substitution - Nonsense
c.1354A>G; p.M452V; 12:45839352-45839352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4351C>T; p.P1451S; 12:45852474-45852474	skin	malignant_melanoma	Substitution - Missense
c.3817C>T; p.R1273*; 12:45851940-45851940	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3817C>T; p.R1273*; 12:45851940-45851940	liver	carcinoma	Substitution - Nonsense
c.3298C>G; p.Q1100E; 12:45851421-45851421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3817C>T; p.R1273*; 12:45851940-45851940	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3817C>T; p.R1273*; 12:45851940-45851940	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.666_668delAGA; p.E224delE; 12:45821448-45821450	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.3817C>T; p.R1273*; 12:45851940-45851940	liver	carcinoma	Substitution - Nonsense
c.121G>C; p.G41R; 12:45730072-45730072	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4150C>T; p.H1384Y; 12:45852273-45852273	skin	malignant_melanoma	Substitution - Missense
c.3095A>G; p.Q1032R; 12:45851218-45851218	pancreas	carcinoma	Substitution - Missense
c.2224T>C; p.S742P; 12:45850347-45850347	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3319G>A; p.A1107T; 12:45851442-45851442	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4065delA; p.K1355fs*3; 12:45852188-45852188	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4096A>T; p.K1366*; 12:45852219-45852219	skin	malignant_melanoma	Substitution - Nonsense
c.721G>A; p.V241I; 12:45836604-45836604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.723T>C; p.V241V; 12:45836606-45836606	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1189C>T; p.Q397*; 12:45837566-45837566	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.102_103insA; p.I37fs*29; 12:45730053-45730054	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.723T>C; p.V241V; 12:45836606-45836606	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.3396T>G; p.S1132R; 12:45851519-45851519	skin; back	malignant_melanoma	Substitution - Missense
c.597C>G; p.I199M; 12:45817848-45817848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3010A>T; p.S1004C; 12:45851133-45851133	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3814C>T; p.R1272*; 12:45851937-45851937	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4511G>A; p.R1504Q; 12:45852634-45852634	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1259A>T; p.E420V; 12:45837636-45837636	pancreas	other; pancreatoblastoma	Substitution - Missense
c.5179C>T; p.P1727S; 12:45893451-45893451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.479A>G; p.K160R; 12:45817730-45817730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4398_4416del19; p.V1467fs*12; 12:45852521-45852539	liver	carcinoma	Deletion - Frameshift
c.5431C>T; p.L1811F; 12:45905001-45905001	skin	malignant_melanoma	Substitution - Missense
c.2302G>T; p.V768L; 12:45850425-45850425	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>T; p.E267*; 12:45836767-45836767	liver	carcinoma	Substitution - Nonsense
c.799G>T; p.E267*; 12:45836767-45836767	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1308T>A; p.I436I; 12:45837685-45837685	kidney	other; neoplasm	Substitution - coding silent
c.799G>T; p.E267*; 12:45836767-45836767	liver	carcinoma	Substitution - Nonsense
c.1277C>T; p.T426M; 12:45837654-45837654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.78C>G; p.F26L; 12:45729914-45729914	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4143T>G; p.T1381T; 12:45852266-45852266	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.803C>T; p.S268F; 12:45836771-45836771	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3536A>T; p.N1179I; 12:45851659-45851659	skin	malignant_melanoma	Substitution - Missense
c.1719G>T; p.T573T; 12:45849583-45849583	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4143T>G; p.T1381T; 12:45852266-45852266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2977A>T; p.T993S; 12:45851100-45851100	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2037A>T; p.Q679H; 12:45850160-45850160	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2710C>T; p.Q904*; 12:45850833-45850833	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2710C>T; p.Q904*; 12:45850833-45850833	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3963A>T; p.L1321L; 12:45852086-45852086	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3877C>A; p.L1293I; 12:45852000-45852000	breast	carcinoma	Substitution - Missense
c.205_206insG; p.E71fs*4; 12:45731235-45731236	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3528T>C; p.V1176V; 12:45851651-45851651	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2814_2815insA; p.Y939fs*12; 12:45850937-45850938	pancreas	carcinoma	Insertion - Frameshift
c.2909C>T; p.P970L; 12:45851032-45851032	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2815_2816insA; p.Y939fs*1; 12:45850938-45850939	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.4444C>T; p.Q1482*; 12:45852567-45852567	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1625G>A; p.R542Q; 12:45848880-45848880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3203_3205delGTG; p.G1069delG; 12:45851326-45851328	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.4951T>C; p.Y1651H; 12:45891808-45891808	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5188C>T; p.Q1730*; 12:45893460-45893460	liver	carcinoma	Substitution - Nonsense
c.5188C>T; p.Q1730*; 12:45893460-45893460	liver	carcinoma	Substitution - Nonsense
c.74_75insA; p.F26fs*10; 12:45729910-45729911	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.4938C>T; p.P1646P; 12:45891795-45891795	liver	carcinoma	Substitution - coding silent
c.4938C>T; p.P1646P; 12:45891795-45891795	liver	carcinoma	Substitution - coding silent
c.4459C>A; p.P1487T; 12:45852582-45852582	skin	malignant_melanoma	Substitution - Missense
c.4925G>T; p.W1642L; 12:45891782-45891782	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2809C>T; p.Q937*; 12:45850932-45850932	skin	malignant_melanoma	Substitution - Nonsense
c.2809C>T; p.Q937*; 12:45850932-45850932	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4720G>T; p.V1574F; 12:45852843-45852843	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3952C>T; p.Q1318*; 12:45852075-45852075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2310A>T; p.P770P; 12:45850433-45850433	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4844T>G; p.F1615C; 12:45860871-45860871	liver	carcinoma	Substitution - Missense
c.3453G>A; p.L1151L; 12:45851576-45851576	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.865A>G; p.I289V; 12:45836833-45836833	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2817T>C; p.Y939Y; 12:45850940-45850940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.755_756delAC; p.D252fs*6; 12:45836638-45836639	liver	carcinoma	Deletion - Frameshift
c.5435C>G; p.A1812G; 12:45905005-45905005	liver	carcinoma	Substitution - Missense
c.3370C>T; p.Q1124*; 12:45851493-45851493	liver	carcinoma	Substitution - Nonsense
c.3370C>T; p.Q1124*; 12:45851493-45851493	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1169T>A; p.L390*; 12:45837546-45837546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2356G>T; p.G786C; 12:45850479-45850479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2250G>T; p.G750G; 12:45850373-45850373	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.206G>A; p.W69*; 12:45731236-45731236	liver	carcinoma	Substitution - Nonsense
c.1331-1G>A; p.?; 12:45839328-45839328	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.577C>T; p.L193F; 12:45817828-45817828	skin	malignant_melanoma	Substitution - Missense
c.4946_4947delTT; p.F1650fs*6; 12:45891803-45891804	skin	malignant_melanoma	Deletion - Frameshift
c.5306G>A; p.R1769Q; 12:45893664-45893664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3841G>T; p.G1281W; 12:45851964-45851964	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3987_3988ins16; p.L1330fs*3; 12:45852110-45852111	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.5174C>G; p.S1725*; 12:45893446-45893446	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3841G>T; p.G1281W; 12:45851964-45851964	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1700T>G; p.F567C; 12:45848955-45848955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3496G>C; p.G1166R; 12:45851619-45851619	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4685C>T; p.P1562L; 12:45852808-45852808	skin	malignant_melanoma	Substitution - Missense
c.4993G>T; p.G1665W; 12:45891850-45891850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5174C>G; p.S1725*; 12:45893446-45893446	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.939T>A; p.L313L; 12:45836907-45836907	prostate	carcinoma	Substitution - coding silent
c.5199T>G; p.I1733M; 12:45893471-45893471	breast	carcinoma	Substitution - Missense
c.541A>G; p.T181A; 12:45817792-45817792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2776G>T; p.V926L; 12:45850899-45850899	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3135G>A; p.S1045S; 12:45851258-45851258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2173C>T; p.Q725*; 12:45850296-45850296	pancreas	carcinoma	Substitution - Nonsense
c.5393C>G; p.S1798*; 12:45904963-45904963	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1126G>A; p.E376K; 12:45837503-45837503	central_nervous_system; brain	glioma	Substitution - Missense
c.4003G>T; p.A1335S; 12:45852126-45852126	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4413_4419delACATTCT; p.H1472fs*11; 12:45852536-45852542	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1787T>C; p.V596A; 12:45849651-45849651	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3238C>T; p.P1080S; 12:45851361-45851361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2173C>T; p.Q725*; 12:45850296-45850296	skin	malignant_melanoma	Substitution - Nonsense
c.2145_2146GG>AA; p.A716T; 12:45850268-45850269	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>T; p.A207V; 12:45817871-45817871	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4039C>T; p.Q1347*; 12:45852162-45852162	skin	malignant_melanoma	Substitution - Nonsense
c.2292_2313del22; p.H765fs*20; 12:45850415-45850436	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2611C>T; p.Q871*; 12:45850734-45850734	skin	malignant_melanoma	Substitution - Nonsense
c.186+1G>A; p.?; 12:45730138-45730138	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2611C>T; p.Q871*; 12:45850734-45850734	skin; neck	malignant_melanoma	Substitution - Nonsense
c.1120G>C; p.G374R; 12:45837417-45837417	liver	carcinoma	Substitution - Missense
c.1120G>C; p.G374R; 12:45837417-45837417	skin	malignant_melanoma	Substitution - Missense
c.1062G>A; p.L354L; 12:45837359-45837359	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1062G>A; p.L354L; 12:45837359-45837359	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2110C>T; p.Q704*; 12:45850233-45850233	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1073C>G; p.T358S; 12:45837370-45837370	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.400C>T; p.Q134*; 12:45811533-45811533	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1638T>G; p.Y546*; 12:45848893-45848893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2110C>T; p.Q704*; 12:45850233-45850233	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3208C>T; p.P1070S; 12:45851331-45851331	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2610_2611insT; p.Q871fs*80; 12:45850733-45850734	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - Frameshift
c.2542_2543insT; p.A849fs*102; 12:45850665-45850666	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.647C>T; p.S216F; 12:45821429-45821429	skin	malignant_melanoma	Substitution - Missense
c.3795C>A; p.V1265V; 12:45851918-45851918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1331-1G>T; p.?; 12:45839328-45839328	lung	carcinoma; adenocarcinoma	Unknown
c.2877A>T; p.T959T; 12:45851000-45851000	liver	carcinoma	Substitution - coding silent
c.1125delG; p.E376fs*15; 12:45837502-45837502	liver	carcinoma	Deletion - Frameshift
c.1672C>T; p.R558C; 12:45848927-45848927	skin	malignant_melanoma	Substitution - Missense
c.2567C>T; p.T856I; 12:45850690-45850690	skin	malignant_melanoma	Substitution - Missense
c.2952C>T; p.V984V; 12:45851075-45851075	skin	malignant_melanoma	Substitution - coding silent
c.1418C>A; p.S473Y; 12:45839416-45839416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4831C>T; p.Q1611*; 12:45860858-45860858	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.853C>T; p.R285W; 12:45836821-45836821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.R285W; 12:45836821-45836821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.853C>T; p.R285W; 12:45836821-45836821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4463_4475del13; p.D1488fs*24; 12:45852586-45852598	skin	malignant_melanoma	Deletion - Frameshift
c.4146C>T; p.S1382S; 12:45852269-45852269	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3414G>T; p.G1138G; 12:45851537-45851537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5487A>C; p.K1829N; 12:45905057-45905057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5281G>T; p.E1761*; 12:45893639-45893639	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1912+1G>T; p.?; 12:45849777-45849777	lung	carcinoma; adenocarcinoma	Unknown
c.2890G>T; p.G964*; 12:45851013-45851013	skin	malignant_melanoma	Substitution - Nonsense
c.4508delT; p.R1504fs*12; 12:45852631-45852631	liver	carcinoma	Deletion - Frameshift
c.1837C>T; p.Q613*; 12:45849701-45849701	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2865delA; p.A956fs*7; 12:45850988-45850988	liver	carcinoma	Deletion - Frameshift
c.3931A>G; p.K1311E; 12:45852054-45852054	breast	carcinoma	Substitution - Missense
c.2358C>T; p.G786G; 12:45850481-45850481	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1426C>T; p.Q476*; 12:45839424-45839424	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3612C>T; p.S1204S; 12:45851735-45851735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2776G>A; p.V926I; 12:45850899-45850899	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4304C>T; p.S1435L; 12:45852427-45852427	breast	carcinoma	Substitution - Missense
c.200delA; p.N67fs*23; 12:45731230-45731230	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4198G>T; p.D1400Y; 12:45852321-45852321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.740G>A; p.R247H; 12:45836623-45836623	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5237G>A; p.R1746K; 12:45893509-45893509	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.649delT; p.S218fs*74; 12:45821431-45821431	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5126G>A; p.G1709E; 12:45892075-45892075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3629T>C; p.V1210A; 12:45851752-45851752	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.78delC; p.H27fs*31; 12:45729914-45729914	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2011G>A; p.V671I; 12:45850134-45850134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4558G>T; p.E1520*; 12:45852681-45852681	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3580C>T; p.Q1194*; 12:45851703-45851703	skin	malignant_melanoma	Substitution - Nonsense
c.1037C>T; p.P346L; 12:45837334-45837334	liver	carcinoma	Substitution - Missense
c.3044A>C; p.Q1015P; 12:45851167-45851167	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037C>T; p.P346L; 12:45837334-45837334	liver	carcinoma	Substitution - Missense
c.4923-1G>C; p.?; 12:45891779-45891779	stomach	carcinoma; adenocarcinoma	Unknown
c.4878delA; p.K1627fs*74; 12:45860905-45860905	liver	carcinoma	Deletion - Frameshift
c.1616C>A; p.S539Y; 12:45848871-45848871	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4043A>T; p.D1348V; 12:45852166-45852166	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1337T>A; p.L446*; 12:45839335-45839335	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2817T>G; p.Y939*; 12:45850940-45850940	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2909C>G; p.P970R; 12:45851032-45851032	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1100A>T; p.D367V; 12:45837397-45837397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1023+6C>A; p.?; 12:45836997-45836997	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.4794A>T; p.S1598S; 12:45860821-45860821	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2297C>A; p.P766Q; 12:45850420-45850420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.220G>T; p.E74*; 12:45731250-45731250	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1264C>A; p.L422I; 12:45837641-45837641	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4017G>T; p.Q1339H; 12:45852140-45852140	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2740C>T; p.P914S; 12:45850863-45850863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.521A>G; p.D174G; 12:45817772-45817772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3493C>T; p.Q1165*; 12:45851616-45851616	skin; scalp	malignant_melanoma	Substitution - Nonsense
c.3493C>T; p.Q1165*; 12:45851616-45851616	skin; upper_leg	malignant_melanoma	Substitution - Nonsense
c.4688G>C; p.S1563T; 12:45852811-45852811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.484G>T; p.V162L; 12:45817735-45817735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1716-9A>G; p.?; 12:45849571-45849571	liver	carcinoma	Unknown
c.4888C>T; p.Q1630*; 12:45860915-45860915	liver	carcinoma	Substitution - Nonsense
c.2101A>T; p.T701S; 12:45850224-45850224	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4888C>T; p.Q1630*; 12:45860915-45860915	liver	carcinoma	Substitution - Nonsense
c.5328delA; p.N1778fs*13; 12:45893686-45893686	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.551C>G; p.S184*; 12:45817802-45817802	liver	carcinoma	Substitution - Nonsense
c.5328delA; p.N1778fs*13; 12:45893686-45893686	liver	carcinoma	Deletion - Frameshift
c.899A>T; p.E300V; 12:45836867-45836867	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2947C>T; p.Q983*; 12:45851070-45851070	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1330G>T; p.D444Y; 12:45837707-45837707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>T; p.D444Y; 12:45837707-45837707	liver	carcinoma	Substitution - Missense
c.1330G>T; p.D444Y; 12:45837707-45837707	liver	carcinoma	Substitution - Missense
c.478A>G; p.K160E; 12:45817729-45817729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4496T>C; p.L1499P; 12:45852619-45852619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>A; p.L287I; 12:45836827-45836827	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5042C>T; p.S1681F; 12:45891899-45891899	skin	malignant_melanoma	Substitution - Missense
c.4613delT; p.I1538fs*28; 12:45852736-45852736	liver	carcinoma	Deletion - Frameshift
c.1552_1555delATAG; p.D519fs*9; 12:45846909-45846912	large_intestine; colon	NS	Deletion - Frameshift
c.3617C>T; p.T1206M; 12:45851740-45851740	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1868G>T; p.R623L; 12:45849732-45849732	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2128C>T; p.P710S; 12:45850251-45850251	skin	malignant_melanoma	Substitution - Missense
c.1231G>T; p.D411Y; 12:45837608-45837608	liver	carcinoma	Substitution - Missense
c.821G>A; p.R274Q; 12:45836789-45836789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201_1202delAG; p.E402fs*9; 12:45837578-45837579	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.93-1G>A; p.?; 12:45730043-45730043	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2128C>T; p.P710S; 12:45850251-45850251	skin	malignant_melanoma	Substitution - Missense
c.1231G>T; p.D411Y; 12:45837608-45837608	liver	carcinoma	Substitution - Missense
c.3430C>T; p.P1144S; 12:45851553-45851553	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2128C>T; p.P710S; 12:45850251-45850251	skin; face	malignant_melanoma	Substitution - Missense
c.940C>A; p.R314S; 12:45836908-45836908	pancreas	carcinoma	Substitution - Missense
c.5110G>T; p.E1704*; 12:45892059-45892059	liver	carcinoma	Substitution - Nonsense
c.1433T>A; p.L478*; 12:45839431-45839431	liver	carcinoma	Substitution - Nonsense
c.940C>A; p.R314S; 12:45836908-45836908	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.5110G>T; p.E1704*; 12:45892059-45892059	liver	carcinoma	Substitution - Nonsense
c.3734A>G; p.Q1245R; 12:45851857-45851857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2864C>T; p.P955L; 12:45850987-45850987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586G>T; p.D196Y; 12:45817837-45817837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3831C>T; p.N1277N; 12:45851954-45851954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4583C>T; p.A1528V; 12:45852706-45852706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4190_4191insGACT; p.L1399fs*13; 12:45852313-45852314	liver	carcinoma	Insertion - Frameshift
c.2239C>T; p.H747Y; 12:45850362-45850362	skin	malignant_melanoma	Substitution - Missense
c.551C>A; p.S184*; 12:45817802-45817802	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.551C>A; p.S184*; 12:45817802-45817802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2983_2984insA; p.S996fs*61; 12:45851106-45851107	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2140G>T; p.V714F; 12:45850263-45850263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1567T>G; p.F523V; 12:45846924-45846924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2276C>T; p.S759F; 12:45850399-45850399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1463A>G; p.Q488R; 12:45839461-45839461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5147+3A>C; p.?; 12:45892099-45892099	liver	carcinoma	Unknown
c.1691C>T; p.S564L; 12:45848946-45848946	liver	carcinoma	Substitution - Missense
c.1547T>C; p.V516A; 12:45846904-45846904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4052G>T; p.S1351I; 12:45852175-45852175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1716-2A>T; p.?; 12:45849578-45849578	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.65A>G; p.E22G; 12:45729901-45729901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3965delT; p.I1322fs*9; 12:45852088-45852088	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1691C>T; p.S564L; 12:45848946-45848946	liver	carcinoma	Substitution - Missense
c.3256delC; p.P1087fs*69; 12:45851379-45851379	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1024-2A>C; p.?; 12:45837319-45837319	pancreas	carcinoid-endocrine_tumour	Unknown
c.2802A>G; p.Q934Q; 12:45850925-45850925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2802A>G; p.Q934Q; 12:45850925-45850925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.587A>C; p.D196A; 12:45817838-45817838	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1814C>A; p.P605Q; 12:45849678-45849678	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>T; p.E393*; 12:45837554-45837554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2003C>A; p.S668Y; 12:45850126-45850126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>T; p.E393*; 12:45837554-45837554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.3648G>A; p.T1216T; 12:45851771-45851771	liver	carcinoma	Substitution - coding silent
c.3648G>A; p.T1216T; 12:45851771-45851771	liver	carcinoma	Substitution - coding silent
c.1177G>T; p.E393*; 12:45837554-45837554	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4573_4576GAAA>GAA; p.E1525fs; 12:45852696-45852699	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.4573_4576GAAA>GAA; p.E1525fs; 12:45852696-45852699	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.2325A>T; p.L775F; 12:45850448-45850448	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4753_4756delGTAC; p.V1585fs*40; 12:45852876-45852879	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1119A>C; p.R373S; 12:45837416-45837416	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.811C>T; p.H271Y; 12:45836779-45836779	skin	malignant_melanoma	Substitution - Missense
c.1135G>C; p.G379R; 12:45837512-45837512	central_nervous_system; brain	glioma	Substitution - Missense
c.3859G>A; p.E1287K; 12:45851982-45851982	breast	carcinoma	Substitution - Missense
c.527_546del20; p.N178fs*2; 12:45817778-45817797	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - Frameshift
c.4207C>T; p.Q1403*; 12:45852330-45852330	pancreas	carcinoma	Substitution - Nonsense
c.2045C>G; p.S682*; 12:45850168-45850168	liver	carcinoma	Substitution - Nonsense
c.3844G>C; p.D1282H; 12:45851967-45851967	liver	carcinoma	Substitution - Missense
c.3844G>C; p.D1282H; 12:45851967-45851967	liver	carcinoma	Substitution - Missense
c.482T>A; p.L161*; 12:45817733-45817733	lung	carcinoma; adenocarcinoma	Substitution - Nonsense

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]