Entrez Gene

Basic Information
Gene ID	11122
Name	PTPRT
Synonymous	protein tyrosine phosphatase, receptor type, T;PTPRT;protein tyrosine phosphatase, receptor type, T
Definition	R-PTP-T\|RPTP-rho\|receptor protein tyrosine phosphatase\|receptor-type tyrosine-protein phosphatase T\|receptor-type tyrosine-protein phosphatase rho
Position	20q12-q13
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 0.10.

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.1700A>T; p.K567M; 20:42352146-42352146	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1707C>T; p.S569S; 20:42352139-42352139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3185G>T; p.R1062L; 20:42110468-42110468	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3123G>A; p.E1041E; 20:42115241-42115241	skin	malignant_melanoma	Substitution - coding silent
c.1475C>T; p.S492F; 20:42448305-42448305	skin	malignant_melanoma	Substitution - Missense
c.2950+1G>A; p.?; 20:42119934-42119934	urinary_tract; bladder	carcinoma	Unknown
c.2533A>G; p.S845G; 20:42199264-42199264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4216C>T; p.R1406C; 20:42082004-42082004	skin; arm	malignant_melanoma	Substitution - Missense
c.3991G>A; p.D1331N; 20:42085775-42085775	skin	malignant_melanoma	Substitution - Missense
c.3131C>A; p.A1044E; 20:42115233-42115233	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.808C>T; p.R270C; 20:42756513-42756513	liver	carcinoma	Substitution - Missense
c.2551G>A; p.G851R; 20:42199246-42199246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.808C>T; p.R270C; 20:42756513-42756513	liver	carcinoma	Substitution - Missense
c.2551G>A; p.G851R; 20:42199246-42199246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4216C>T; p.R1406C; 20:42082004-42082004	skin; arm	malignant_melanoma	Substitution - Missense
c.3798C>A; p.A1266A; 20:42098535-42098535	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3993C>T; p.D1331D; 20:42085773-42085773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1115C>A; p.P372Q; 20:42677904-42677904	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1849C>A; p.R617R; 20:42350644-42350644	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1919C>A; p.A640D; 20:42315943-42315943	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2366G>A; p.R789K; 20:42248690-42248690	skin	malignant_melanoma	Substitution - Missense
c.2787C>T; p.A929A; 20:42141964-42141964	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.548G>T; p.R183L; 20:42780238-42780238	skin	malignant_melanoma	Substitution - Missense
c.1054C>T; p.P352S; 20:42677965-42677965	skin	malignant_melanoma	Substitution - Missense
c.2366G>A; p.R789K; 20:42248690-42248690	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2787C>T; p.A929A; 20:42141964-42141964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2407A>G; p.R803G; 20:42199390-42199390	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.385G>A; p.G129S; 20:42791296-42791296	skin; neck	malignant_melanoma	Substitution - Missense
c.2683G>T; p.D895Y; 20:42161417-42161417	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1974C>T; p.L658L; 20:42315888-42315888	skin	malignant_melanoma	Substitution - coding silent
c.1974C>T; p.L658L; 20:42315888-42315888	skin	malignant_melanoma	Substitution - coding silent
c.1636C>T; p.R546W; 20:42352210-42352210	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2409G>A; p.R803R; 20:42199388-42199388	skin; arm	malignant_melanoma	Substitution - coding silent
c.1860T>A; p.P620P; 20:42350633-42350633	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.363C>T; p.N121N; 20:42791318-42791318	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2556C>T; p.F852F; 20:42199241-42199241	skin	malignant_melanoma	Substitution - coding silent
c.369C>T; p.Y123Y; 20:42791312-42791312	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2560G>A; p.D854N; 20:42161540-42161540	skin; arm	malignant_melanoma	Substitution - Missense
c.369C>T; p.Y123Y; 20:42791312-42791312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1345C>T; p.L449L; 20:42472371-42472371	meninges	meningioma	Substitution - coding silent
c.1860T>A; p.P620P; 20:42350633-42350633	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2943G>A; p.A981A; 20:42119942-42119942	skin	malignant_melanoma	Substitution - coding silent
c.484C>T; p.Q162*; 20:42791197-42791197	skin	malignant_melanoma	Substitution - Nonsense
c.265C>A; p.H89N; 20:42791416-42791416	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2556C>T; p.F852F; 20:42199241-42199241	skin	malignant_melanoma	Substitution - coding silent
c.1647C>A; p.T549T; 20:42352199-42352199	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.306C>T; p.C102C; 20:42791375-42791375	oesophagus	carcinoma	Substitution - coding silent
c.1269C>T; p.T423T; 20:42472447-42472447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1007A>C; p.E336A; 20:42678012-42678012	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1770C>A; p.S590S; 20:42350723-42350723	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3967G>T; p.V1323L; 20:42085799-42085799	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4018C>A; p.R1340S; 20:42085748-42085748	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.778C>T; p.R260W; 20:42756543-42756543	skin	malignant_melanoma	Substitution - Missense
c.1269C>T; p.T423T; 20:42472447-42472447	skin	malignant_melanoma	Substitution - coding silent
c.171T>C; p.I57I; 20:42885850-42885850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3967G>T; p.V1323L; 20:42085799-42085799	prostate	carcinoma	Substitution - Missense
c.272T>C; p.L91P; 20:42791409-42791409	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3415C>T; p.R1139C; 20:42106827-42106827	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4208G>A; p.G1403E; 20:42082012-42082012	skin	malignant_melanoma	Substitution - Missense
c.2811G>A; p.K937K; 20:42141940-42141940	skin	malignant_melanoma	Substitution - coding silent
c.273C>T; p.L91L; 20:42791408-42791408	skin	malignant_melanoma	Substitution - coding silent
c.3415C>T; p.R1139C; 20:42106827-42106827	skin	malignant_melanoma	Substitution - Missense
c.3982G>A; p.A1328T; 20:42085784-42085784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3415C>T; p.R1139C; 20:42106827-42106827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3415C>T; p.R1139C; 20:42106827-42106827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3415C>T; p.R1139C; 20:42106827-42106827	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2288C>T; p.T763I; 20:42248768-42248768	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4203-1G>A; p.?; 20:42082018-42082018	skin	malignant_melanoma	Unknown
c.453C>A; p.L151L; 20:42791228-42791228	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2656C>A; p.Q886K; 20:42161444-42161444	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2176+2T>A; p.?; 20:42282487-42282487	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.796C>T; p.R266C; 20:42756525-42756525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3006C>A; p.S1002S; 20:42118445-42118445	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2063A>G; p.N688S; 20:42315799-42315799	breast	carcinoma	Substitution - Missense
c.542A>G; p.E181G; 20:42780244-42780244	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3588A>C; p.Q1196H; 20:42104587-42104587	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1611C>G; p.S537R; 20:42352235-42352235	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.528C>T; p.Y176Y; 20:42780258-42780258	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2479G>A; p.D827N; 20:42199318-42199318	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2816G>T; p.R939L; 20:42141935-42141935	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3393G>T; p.V1131V; 20:42106849-42106849	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2815C>T; p.R939*; 20:42141936-42141936	breast	carcinoma	Substitution - Nonsense
c.2479G>A; p.D827N; 20:42199318-42199318	liver	carcinoma	Substitution - Missense
c.1345C>A; p.L449M; 20:42472371-42472371	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1397A>G; p.N466S; 20:42472319-42472319	skin	malignant_melanoma	Substitution - Missense
c.1012C>T; p.H338Y; 20:42678007-42678007	thyroid	carcinoma	Substitution - Missense
c.2479G>A; p.D827N; 20:42199318-42199318	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3628C>T; p.R1210C; 20:42102276-42102276	skin	malignant_melanoma	Substitution - Missense
c.3557G>A; p.S1186N; 20:42104618-42104618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3184C>T; p.R1062W; 20:42110469-42110469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.109C>G; p.H37D; 20:42885912-42885912	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.419G>T; p.G140V; 20:42791262-42791262	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2797G>A; p.E933K; 20:42141954-42141954	skin	malignant_melanoma	Substitution - Missense
c.3745G>T; p.E1249*; 20:42102159-42102159	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2918A>G; p.Y973C; 20:42119967-42119967	skin	malignant_melanoma	Substitution - Missense
c.1766C>T; p.P589L; 20:42350727-42350727	skin; trunk	malignant_melanoma	Substitution - Missense
c.2954C>T; p.P985L; 20:42118497-42118497	skin	malignant_melanoma	Substitution - Missense
c.2651G>A; p.R884Q; 20:42161449-42161449	skin	malignant_melanoma	Substitution - Missense
c.3014T>C; p.I1005T; 20:42118437-42118437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2571C>T; p.R857R; 20:42161529-42161529	prostate	carcinoma	Substitution - coding silent
c.283C>A; p.L95M; 20:42791398-42791398	skin	malignant_melanoma	Substitution - Missense
c.3062G>A; p.R1021Q; 20:42115302-42115302	skin	malignant_melanoma	Substitution - Missense
c.469T>C; p.W157R; 20:42791212-42791212	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.469T>C; p.W157R; 20:42791212-42791212	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.469T>C; p.W157R; 20:42791212-42791212	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3062G>A; p.R1021Q; 20:42115302-42115302	skin	malignant_melanoma	Substitution - Missense
c.1160T>G; p.V387G; 20:42472556-42472556	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2925A>T; p.R975R; 20:42119960-42119960	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2390C>T; p.S797F; 20:42236238-42236238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4187C>T; p.T1396I; 20:42084697-42084697	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>T; p.S656F; 20:42315895-42315895	skin; abdomen	malignant_melanoma	Substitution - Missense
c.667G>A; p.D223N; 20:42771452-42771452	skin	malignant_melanoma	Substitution - Missense
c.1447G>A; p.D483N; 20:42472269-42472269	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1967C>T; p.S656F; 20:42315895-42315895	skin; abdomen	malignant_melanoma	Substitution - Missense
c.667G>A; p.D223N; 20:42771452-42771452	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2761G>C; p.G921R; 20:42141990-42141990	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1344C>T; p.T448T; 20:42472372-42472372	ovary	other; neoplasm	Substitution - coding silent
c.1554_1555CT>AA; p.Y519N; 20:42448225-42448226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3604C>A; p.Q1202K; 20:42104571-42104571	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2626G>A; p.D876N; 20:42161474-42161474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3695A>G; p.D1232G; 20:42102209-42102209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4211G>A; p.G1404E; 20:42082009-42082009	skin	malignant_melanoma	Substitution - Missense
c.1357C>T; p.R453C; 20:42472359-42472359	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.609G>A; p.V203V; 20:42771510-42771510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2982G>A; p.W994*; 20:42118469-42118469	skin	malignant_melanoma	Substitution - Nonsense
c.609G>A; p.V203V; 20:42771510-42771510	skin	malignant_melanoma	Substitution - coding silent
c.2834C>T; p.S945F; 20:42141917-42141917	skin	malignant_melanoma	Substitution - Missense
c.2982G>A; p.W994*; 20:42118469-42118469	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2368A>G; p.R790G; 20:42248688-42248688	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3342C>A; p.G1114G; 20:42106900-42106900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1468C>T; p.L490L; 20:42448312-42448312	skin	malignant_melanoma	Substitution - coding silent
c.3951C>A; p.C1317*; 20:42085815-42085815	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4093T>A; p.Y1365N; 20:42084791-42084791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>A; p.Q406K; 20:42472500-42472500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1075C>T; p.R359*; 20:42677944-42677944	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3685C>T; p.R1229*; 20:42102219-42102219	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4092C>A; p.A1364A; 20:42084792-42084792	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3685C>T; p.R1229*; 20:42102219-42102219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2816G>A; p.R939Q; 20:42141935-42141935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1075C>T; p.R359*; 20:42677944-42677944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3797C>T; p.A1266V; 20:42098536-42098536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3741C>T; p.D1247D; 20:42102163-42102163	meninges	meningioma	Substitution - coding silent
c.2416G>T; p.A806S; 20:42199381-42199381	skin	malignant_melanoma	Substitution - Missense
c.3969G>A; p.V1323V; 20:42085797-42085797	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4372G>A; p.E1458K; 20:42080899-42080899	skin; upper_back	malignant_melanoma	Substitution - Missense
c.2807A>C; p.N936T; 20:42141944-42141944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3629G>A; p.R1210H; 20:42102275-42102275	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3629G>A; p.R1210H; 20:42102275-42102275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1373T>C; p.I458T; 20:42472343-42472343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.E324K; 20:42678049-42678049	skin	malignant_melanoma	Substitution - Missense
c.1642G>A; p.E548K; 20:42352204-42352204	skin	malignant_melanoma	Substitution - Missense
c.1642G>A; p.E548K; 20:42352204-42352204	skin	malignant_melanoma	Substitution - Missense
c.970G>A; p.E324K; 20:42678049-42678049	skin	malignant_melanoma	Substitution - Missense
c.2500A>T; p.S834C; 20:42199297-42199297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.E324K; 20:42678049-42678049	skin	malignant_melanoma	Substitution - Missense
c.4339G>A; p.E1447K; 20:42080932-42080932	skin	malignant_melanoma	Substitution - Missense
c.1617G>A; p.R539R; 20:42352229-42352229	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.970G>A; p.E324K; 20:42678049-42678049	skin	malignant_melanoma	Substitution - Missense
c.4054C>T; p.R1352C; 20:42084830-42084830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3634C>T; p.R1212W; 20:42102270-42102270	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4054C>T; p.R1352C; 20:42084830-42084830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>A; p.E548K; 20:42352204-42352204	skin	malignant_melanoma	Substitution - Missense
c.4339G>A; p.E1447K; 20:42080932-42080932	bone	osteosarcoma	Substitution - Missense
c.4054C>T; p.R1352C; 20:42084830-42084830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3175C>T; p.H1059Y; 20:42110478-42110478	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4054C>T; p.R1352C; 20:42084830-42084830	skin	malignant_melanoma	Substitution - Missense
c.970G>A; p.E324K; 20:42678049-42678049	skin	malignant_melanoma	Substitution - Missense
c.1642G>A; p.E548K; 20:42352204-42352204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1642G>A; p.E548K; 20:42352204-42352204	skin	malignant_melanoma	Substitution - Missense
c.1958_1959GG>TT; p.R653>?; 20:42315903-42315904	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex
c.3634C>T; p.R1212W; 20:42102270-42102270	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.913C>T; p.L305L; 20:42678106-42678106	skin	malignant_melanoma	Substitution - coding silent
c.3261C>T; p.F1087F; 20:42110392-42110392	skin	malignant_melanoma	Substitution - coding silent
c.3261C>T; p.F1087F; 20:42110392-42110392	skin	malignant_melanoma	Substitution - coding silent
c.2252C>A; p.S751Y; 20:42248804-42248804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4194C>A; p.V1398V; 20:42084690-42084690	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.870G>A; p.T290T; 20:42678149-42678149	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.289G>A; p.E97K; 20:42791392-42791392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436A>G; p.Q479R; 20:42472280-42472280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3323C>T; p.A1108V; 20:42106919-42106919	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2390C>G; p.S797C; 20:42236238-42236238	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2028C>T; p.T676T; 20:42315834-42315834	skin	malignant_melanoma	Substitution - coding silent
c.3483C>T; p.A1161A; 20:42104692-42104692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.517C>T; p.H173Y; 20:42780269-42780269	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3115G>A; p.E1039K; 20:42115249-42115249	skin	malignant_melanoma	Substitution - Missense
c.3486C>T; p.I1162I; 20:42104689-42104689	skin	malignant_melanoma	Substitution - coding silent
c.3912G>A; p.Q1304Q; 20:42098421-42098421	skin	malignant_melanoma	Substitution - coding silent
c.2733C>T; p.F911F; 20:42161367-42161367	skin	malignant_melanoma	Substitution - coding silent
c.291G>A; p.E97E; 20:42791390-42791390	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1349G>A; p.R450Q; 20:42472367-42472367	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4281C>T; p.D1427D; 20:42081939-42081939	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.4195C>T; p.H1399Y; 20:42084689-42084689	skin	malignant_melanoma	Substitution - Missense
c.4017C>T; p.F1339F; 20:42085749-42085749	skin	malignant_melanoma	Substitution - coding silent
c.3716G>A; p.C1239Y; 20:42102188-42102188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1569C>A; p.Y523*; 20:42352277-42352277	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.119A>G; p.N40S; 20:42885902-42885902	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1833G>A; p.L611L; 20:42350660-42350660	skin	malignant_melanoma	Substitution - coding silent
c.1186G>A; p.V396I; 20:42472530-42472530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2428_2430delAAG; p.K810delK; 20:42199367-42199369	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.4282G>A; p.V1428M; 20:42081938-42081938	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.407G>T; p.W136L; 20:42791274-42791274	breast	carcinoma	Substitution - Missense
c.2139+4A>C; p.?; 20:42315719-42315719	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.2139+4A>C; p.?; 20:42315719-42315719	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.147C>A; p.T49T; 20:42885874-42885874	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2139+4A>C; p.?; 20:42315719-42315719	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2305G>A; p.V769M; 20:42248751-42248751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2362A>G; p.K788E; 20:42248694-42248694	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.4206T>G; p.N1402K; 20:42082014-42082014	large_intestine; colon	NS	Substitution - Missense
c.1685A>G; p.Y562C; 20:42352161-42352161	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4187C>A; p.T1396N; 20:42084697-42084697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1353C>G; p.G451G; 20:42472363-42472363	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4187C>A; p.T1396N; 20:42084697-42084697	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1685A>G; p.Y562C; 20:42352161-42352161	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.653A>G; p.K218R; 20:42771466-42771466	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.258G>A; p.Q86Q; 20:42791423-42791423	breast	carcinoma	Substitution - coding silent
c.2578C>T; p.L860F; 20:42161522-42161522	ovary	other; neoplasm	Substitution - Missense
c.1099G>A; p.E367K; 20:42677920-42677920	skin	malignant_melanoma	Substitution - Missense
c.2955G>A; p.P985P; 20:42118496-42118496	skin	malignant_melanoma	Substitution - coding silent
c.1375C>T; p.R459W; 20:42472341-42472341	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3844T>A; p.F1282I; 20:42098489-42098489	skin	malignant_melanoma	Substitution - Missense
c.3007G>A; p.A1003T; 20:42118444-42118444	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3080C>T; p.T1027M; 20:42115284-42115284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3331G>A; p.G1111R; 20:42106911-42106911	skin; lower_leg	malignant_melanoma	Substitution - Missense
c.480C>A; p.F160L; 20:42791201-42791201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.918G>A; p.W306*; 20:42678101-42678101	skin	malignant_melanoma	Substitution - Nonsense
c.2849G>A; p.R950Q; 20:42128818-42128818	breast	carcinoma	Substitution - Missense
c.918G>A; p.W306*; 20:42678101-42678101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2582C>T; p.S861F; 20:42161518-42161518	skin	malignant_melanoma	Substitution - Missense
c.1236C>A; p.Y412*; 20:42472480-42472480	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.314T>A; p.F105Y; 20:42791367-42791367	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1045C>T; p.H349Y; 20:42677974-42677974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.354G>A; p.G118G; 20:42791327-42791327	skin	malignant_melanoma	Substitution - coding silent
c.2582C>T; p.S861F; 20:42161518-42161518	skin	malignant_melanoma	Substitution - Missense
c.1198G>A; p.A400T; 20:42472518-42472518	skin	malignant_melanoma	Substitution - Missense
c.1462G>C; p.V488L; 20:42448318-42448318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3591C>T; p.I1197I; 20:42104584-42104584	skin	malignant_melanoma	Substitution - coding silent
c.1825G>T; p.V609L; 20:42350668-42350668	skin	malignant_melanoma	Substitution - Missense
c.2369G>T; p.R790I; 20:42248687-42248687	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2369G>T; p.R790I; 20:42248687-42248687	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.729C>G; p.V243V; 20:42756592-42756592	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.552C>T; p.V184V; 20:42780234-42780234	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2369G>T; p.R790I; 20:42248687-42248687	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1489C>A; p.P497T; 20:42448291-42448291	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.677G>T; p.W226L; 20:42771442-42771442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>A; p.P193T; 20:42771542-42771542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.143G>A; p.G48E; 20:42885878-42885878	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1535C>T; p.T512I; 20:42448245-42448245	skin	malignant_melanoma	Substitution - Missense
c.1760C>T; p.S587L; 20:42352086-42352086	NS	malignant_melanoma	Substitution - Missense
c.1760C>T; p.S587L; 20:42352086-42352086	NS	malignant_melanoma	Substitution - Missense
c.2566_2578del13; p.S856fs*21; 20:42161522-42161534	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3970G>A; p.E1324K; 20:42085796-42085796	skin	malignant_melanoma	Substitution - Missense
c.2836+1G>T; p.?; 20:42141914-42141914	lung	carcinoma; adenocarcinoma	Unknown
c.538G>T; p.D180Y; 20:42780248-42780248	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1958G>A; p.R653Q; 20:42315904-42315904	skin	malignant_melanoma	Substitution - Missense
c.1020C>T; p.V340V; 20:42677999-42677999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3900G>A; p.M1300I; 20:42098433-42098433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1020C>T; p.V340V; 20:42677999-42677999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4036C>T; p.R1346W; 20:42085730-42085730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3900G>A; p.M1300I; 20:42098433-42098433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.3279C>T; p.F1093F; 20:42110374-42110374	skin	malignant_melanoma	Substitution - coding silent
c.3598G>A; p.E1200K; 20:42104577-42104577	skin	malignant_melanoma	Substitution - Missense
c.756C>A; p.V252V; 20:42756565-42756565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4359C>T; p.Y1453Y; 20:42080912-42080912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.530T>C; p.I177T; 20:42780256-42780256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.315C>T; p.F105F; 20:42791366-42791366	skin	malignant_melanoma	Substitution - coding silent
c.859+1G>T; p.?; 20:42756461-42756461	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2128A>T; p.K710*; 20:42315734-42315734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.639C>T; p.C213C; 20:42771480-42771480	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2807A>T; p.N936I; 20:42141944-42141944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3565G>A; p.D1189N; 20:42104610-42104610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1449C>T; p.D483D; 20:42472267-42472267	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3696C>T; p.D1232D; 20:42102208-42102208	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2779G>A; p.D927N; 20:42141972-42141972	skin; back	malignant_melanoma	Substitution - Missense
c.1449C>T; p.D483D; 20:42472267-42472267	breast	carcinoma	Substitution - coding silent
c.1449C>T; p.D483D; 20:42472267-42472267	pancreas	carcinoma	Substitution - coding silent
c.3437T>G; p.V1146G; 20:42106805-42106805	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.852C>T; p.I284I; 20:42756469-42756469	breast	carcinoma	Substitution - coding silent
c.852C>T; p.I284I; 20:42756469-42756469	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1270G>A; p.V424M; 20:42472446-42472446	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1270G>A; p.V424M; 20:42472446-42472446	pancreas	carcinoma	Substitution - Missense
c.3870C>T; p.N1290N; 20:42098463-42098463	skin	malignant_melanoma	Substitution - coding silent
c.1270G>A; p.V424M; 20:42472446-42472446	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1236C>T; p.Y412Y; 20:42472480-42472480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.842C>T; p.A281V; 20:42756479-42756479	pancreas	other; adenoma	Substitution - Missense
c.3287C>G; p.P1096R; 20:42110366-42110366	liver	carcinoma	Substitution - Missense
c.1382G>A; p.R461Q; 20:42472334-42472334	skin	malignant_melanoma	Substitution - Missense
c.3287C>G; p.P1096R; 20:42110366-42110366	liver	carcinoma	Substitution - Missense
c.1295A>T; p.Q432L; 20:42472421-42472421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1270G>A; p.V424M; 20:42472446-42472446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.342G>T; p.R114S; 20:42791339-42791339	liver	carcinoma	Substitution - Missense
c.2131G>A; p.A711T; 20:42315731-42315731	skin	malignant_melanoma	Substitution - Missense
c.342G>T; p.R114S; 20:42791339-42791339	liver	carcinoma	Substitution - Missense
c.2674C>T; p.R892W; 20:42161426-42161426	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.985A>G; p.T329A; 20:42678034-42678034	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.985A>G; p.T329A; 20:42678034-42678034	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1348C>T; p.R450*; 20:42472368-42472368	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.502G>A; p.V168I; 20:42780284-42780284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1962T>A; p.N654K; 20:42315900-42315900	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1059T>C; p.D353D; 20:42677960-42677960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.335G>A; p.R112H; 20:42791346-42791346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>A; p.E296K; 20:42678133-42678133	skin	malignant_melanoma	Substitution - Missense
c.1059T>C; p.D353D; 20:42677960-42677960	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.335G>A; p.R112H; 20:42791346-42791346	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.778C>A; p.R260R; 20:42756543-42756543	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3309G>A; p.V1103V; 20:42110344-42110344	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.4068C>A; p.H1356Q; 20:42084816-42084816	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3726C>T; p.F1242F; 20:42102178-42102178	skin	malignant_melanoma	Substitution - coding silent
c.2601C>T; p.I867I; 20:42161499-42161499	skin	malignant_melanoma	Substitution - coding silent
c.1513C>T; p.Q505*; 20:42448267-42448267	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3410G>A; p.C1137Y; 20:42106832-42106832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.128A>C; p.Y43S; 20:42885893-42885893	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.775C>A; p.Q259K; 20:42756546-42756546	skin	malignant_melanoma	Substitution - Missense
c.3936G>C; p.E1312D; 20:42085830-42085830	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2084T>G; p.L695R; 20:42315778-42315778	skin	malignant_melanoma	Substitution - Missense
c.4222G>T; p.G1408*; 20:42081998-42081998	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3812C>A; p.T1271N; 20:42098521-42098521	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3912G>C; p.Q1304H; 20:42098421-42098421	pancreas	carcinoma	Substitution - Missense
c.1643A>G; p.E548G; 20:42352203-42352203	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.617G>A; p.G206E; 20:42771502-42771502	skin	malignant_melanoma	Substitution - Missense
c.3765C>T; p.N1255N; 20:42102139-42102139	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3765C>T; p.N1255N; 20:42102139-42102139	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.4019G>A; p.R1340H; 20:42085747-42085747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4038+10C>A; p.?; 20:42085718-42085718	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1507T>G; p.Y503D; 20:42448273-42448273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3862G>A; p.D1288N; 20:42098471-42098471	skin; extremity	malignant_melanoma	Substitution - Missense
c.3862G>A; p.D1288N; 20:42098471-42098471	skin	malignant_melanoma	Substitution - Missense
c.3975C>T; p.F1325F; 20:42085791-42085791	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2263G>A; p.E755K; 20:42248793-42248793	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3975C>T; p.F1325F; 20:42085791-42085791	breast	carcinoma	Substitution - coding silent
c.3975C>T; p.F1325F; 20:42085791-42085791	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3862G>A; p.D1288N; 20:42098471-42098471	skin	malignant_melanoma	Substitution - Missense
c.1437G>T; p.Q479H; 20:42472279-42472279	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.453C>T; p.L151L; 20:42791228-42791228	skin	malignant_melanoma	Substitution - coding silent
c.453C>T; p.L151L; 20:42791228-42791228	skin	malignant_melanoma	Substitution - coding silent
c.521C>T; p.P174L; 20:42780265-42780265	skin	malignant_melanoma	Substitution - Missense
c.2881C>A; p.H961N; 20:42128786-42128786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.453C>T; p.L151L; 20:42791228-42791228	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.3291G>A; p.P1097P; 20:42110362-42110362	skin	malignant_melanoma	Substitution - coding silent
c.2310C>T; p.I770I; 20:42248746-42248746	skin	malignant_melanoma	Substitution - coding silent
c.2310C>T; p.I770I; 20:42248746-42248746	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1663G>A; p.G555S; 20:42352183-42352183	skin	malignant_melanoma	Substitution - Missense
c.3495G>T; p.A1165A; 20:42104680-42104680	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2310C>T; p.I770I; 20:42248746-42248746	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2073G>A; p.W691*; 20:42315789-42315789	skin	malignant_melanoma	Substitution - Nonsense
c.3139G>A; p.V1047I; 20:42115225-42115225	ovary	other; neoplasm	Substitution - Missense
c.3139G>A; p.V1047I; 20:42115225-42115225	skin	malignant_melanoma	Substitution - Missense
c.877G>T; p.A293S; 20:42678142-42678142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.568+5G>A; p.?; 20:42780213-42780213	ovary	other; neoplasm	Unknown
c.3762C>A; p.I1254I; 20:42102142-42102142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3006C>T; p.S1002S; 20:42118445-42118445	skin	malignant_melanoma	Substitution - coding silent
c.2592C>T; p.T864T; 20:42161508-42161508	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.568+5G>A; p.?; 20:42780213-42780213	ovary	other; neoplasm	Unknown
c.1115C>T; p.P372L; 20:42677904-42677904	skin	malignant_melanoma	Substitution - Missense
c.3397delG; p.D1133fs*75; 20:42106845-42106845	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3539C>T; p.S1180F; 20:42104636-42104636	skin; scalp	malignant_melanoma	Substitution - Missense
c.2598G>A; p.T866T; 20:42161502-42161502	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.2395T>C; p.Y799H; 20:42236233-42236233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.G495R; 20:42448297-42448297	skin	malignant_melanoma	Substitution - Missense
c.284T>C; p.L95P; 20:42791397-42791397	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2370-1G>T; p.?; 20:42236259-42236259	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2528C>T; p.S843F; 20:42199269-42199269	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.859G>A; p.E287K; 20:42756462-42756462	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3367C>A; p.L1123I; 20:42106875-42106875	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.363C>G; p.N121K; 20:42791318-42791318	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1185C>T; p.I395I; 20:42472531-42472531	skin	malignant_melanoma	Substitution - coding silent
c.363C>G; p.N121K; 20:42791318-42791318	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1645A>T; p.T549S; 20:42352201-42352201	skin	malignant_melanoma	Substitution - Missense
c.1185C>T; p.I395I; 20:42472531-42472531	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.822G>A; p.G274G; 20:42756499-42756499	skin	malignant_melanoma	Substitution - coding silent
c.341G>A; p.R114K; 20:42791340-42791340	skin	malignant_melanoma	Substitution - Missense
c.1414G>A; p.E472K; 20:42472302-42472302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2847C>T; p.S949S; 20:42128820-42128820	skin	malignant_melanoma	Substitution - coding silent
c.2341C>A; p.L781M; 20:42248715-42248715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1364_1365delTC; p.F455fs*11; 20:42472351-42472352	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.3680A>G; p.K1227R; 20:42102224-42102224	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3789G>A; p.K1263K; 20:42098544-42098544	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2847C>T; p.S949S; 20:42128820-42128820	skin	malignant_melanoma	Substitution - coding silent
c.341G>A; p.R114K; 20:42791340-42791340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1008G>A; p.E336E; 20:42678011-42678011	skin	malignant_melanoma	Substitution - coding silent
c.1401C>T; p.P467P; 20:42472315-42472315	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4210G>A; p.G1404R; 20:42082010-42082010	skin; shoulder	malignant_melanoma	Substitution - Missense
c.945C>T; p.I315I; 20:42678074-42678074	breast	carcinoma	Substitution - coding silent
c.1969A>G; p.S657G; 20:42315893-42315893	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.945C>T; p.I315I; 20:42678074-42678074	skin	malignant_melanoma	Substitution - coding silent
c.2509C>T; p.R837C; 20:42199288-42199288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2509C>T; p.R837C; 20:42199288-42199288	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2509C>T; p.R837C; 20:42199288-42199288	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4017C>A; p.F1339L; 20:42085749-42085749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3411C>T; p.C1137C; 20:42106831-42106831	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3529G>A; p.E1177K; 20:42104646-42104646	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2085C>A; p.L695L; 20:42315777-42315777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293C>T; p.N431N; 20:42472423-42472423	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3383A>C; p.N1128T; 20:42106859-42106859	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3223C>A; p.H1075N; 20:42110430-42110430	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1381C>T; p.R461*; 20:42472335-42472335	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2837-2A>C; p.?; 20:42128832-42128832	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.417C>T; p.S139S; 20:42791264-42791264	skin	malignant_melanoma	Substitution - coding silent
c.1782C>T; p.Y594Y; 20:42350711-42350711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2836+4G>A; p.?; 20:42141911-42141911	breast	carcinoma; ductal_carcinoma	Unknown
c.2836+4G>A; p.?; 20:42141911-42141911	liver	carcinoma	Unknown
c.2286C>T; p.N762N; 20:42248770-42248770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3002A>G; p.N1001S; 20:42118449-42118449	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2508C>T; p.S836S; 20:42199289-42199289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2247G>A; p.Q749Q; 20:42248809-42248809	skin	malignant_melanoma	Substitution - coding silent
c.2247G>A; p.Q749Q; 20:42248809-42248809	skin	malignant_melanoma	Substitution - coding silent
c.1487G>A; p.G496E; 20:42448293-42448293	skin	malignant_melanoma	Substitution - Missense
c.535G>A; p.V179M; 20:42780251-42780251	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>T; p.I321I; 20:42678056-42678056	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1638G>A; p.R546R; 20:42352208-42352208	skin	malignant_melanoma	Substitution - coding silent
c.431A>G; p.E144G; 20:42791250-42791250	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2764C>A; p.Q922K; 20:42141987-42141987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1815G>A; p.T605T; 20:42350678-42350678	skin	malignant_melanoma	Substitution - coding silent
c.241G>A; p.G81R; 20:42791440-42791440	breast	carcinoma	Substitution - Missense
c.2002T>C; p.L668L; 20:42315860-42315860	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.3912+2T>C; p.?; 20:42098419-42098419	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.3633G>T; p.V1211V; 20:42102271-42102271	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1969A>T; p.S657C; 20:42315893-42315893	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2002T>G; p.L668V; 20:42315860-42315860	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.533C>T; p.A178V; 20:42780253-42780253	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.540C>T; p.D180D; 20:42780246-42780246	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.540C>T; p.D180D; 20:42780246-42780246	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1530T>A; p.N510K; 20:42448250-42448250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2369+1G>A; p.?; 20:42248686-42248686	ovary	carcinoma; serous_carcinoma	Unknown
c.1940C>T; p.S647L; 20:42315922-42315922	skin	malignant_melanoma	Substitution - Missense
c.3899T>C; p.M1300T; 20:42098434-42098434	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1940C>T; p.S647L; 20:42315922-42315922	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1940C>T; p.S647L; 20:42315922-42315922	skin	malignant_melanoma	Substitution - Missense
c.3005C>T; p.S1002F; 20:42118446-42118446	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1774C>A; p.P592T; 20:42350719-42350719	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3212G>T; p.S1071I; 20:42110441-42110441	thyroid	carcinoma	Substitution - Missense
c.737G>A; p.R246K; 20:42756584-42756584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1650C>G; p.H550Q; 20:42352196-42352196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2950+2T>A; p.?; 20:42119933-42119933	lung	carcinoma; adenocarcinoma	Unknown
c.3294A>C; p.E1098D; 20:42110359-42110359	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1029C>G; p.P343P; 20:42677990-42677990	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2346C>T; p.G782G; 20:42248710-42248710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1848C>T; p.S616S; 20:42350645-42350645	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1264C>T; p.L422F; 20:42472452-42472452	skin; arm	malignant_melanoma	Substitution - Missense
c.370G>A; p.V124M; 20:42791311-42791311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579G>A; p.G527S; 20:42352267-42352267	pituitary; craniopharyngeal_duct	craniopharyngioma; papillary	Substitution - Missense
c.2497C>T; p.L833F; 20:42199300-42199300	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1074C>T; p.I358I; 20:42677945-42677945	skin	malignant_melanoma	Substitution - coding silent
c.2075A>G; p.N692S; 20:42315787-42315787	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3162G>T; p.Q1054H; 20:42115202-42115202	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1048C>A; p.L350M; 20:42677971-42677971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1386C>T; p.L462L; 20:42472330-42472330	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4103C>T; p.T1368M; 20:42084781-42084781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.946G>A; p.G316R; 20:42678073-42678073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4103C>T; p.T1368M; 20:42084781-42084781	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2929C>T; p.R977W; 20:42119956-42119956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.258G>C; p.Q86H; 20:42791423-42791423	breast	carcinoma	Substitution - Missense
c.2805C>T; p.R935R; 20:42141946-42141946	liver	carcinoma	Substitution - coding silent
c.960C>T; p.I320I; 20:42678059-42678059	skin	malignant_melanoma	Substitution - coding silent
c.1675G>A; p.G559R; 20:42352171-42352171	skin	malignant_melanoma	Substitution - Missense
c.3402C>T; p.I1134I; 20:42106840-42106840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2805C>T; p.R935R; 20:42141946-42141946	liver	carcinoma	Substitution - coding silent
c.1097G>T; p.G366V; 20:42677922-42677922	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1128C>T; p.P376P; 20:42677891-42677891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3320G>A; p.S1107N; 20:42110333-42110333	skin	malignant_melanoma	Substitution - Missense
c.1128C>T; p.P376P; 20:42677891-42677891	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158G>A; p.P386P; 20:42472558-42472558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465C>T; p.P489S; 20:42448315-42448315	skin; face	malignant_melanoma	Substitution - Missense
c.2744A>G; p.Y915C; 20:42161356-42161356	pancreas	carcinoma	Substitution - Missense
c.2066G>A; p.G689D; 20:42315796-42315796	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1512C>T; p.I504I; 20:42448268-42448268	skin	malignant_melanoma	Substitution - coding silent
c.4180G>A; p.G1394R; 20:42084704-42084704	skin	malignant_melanoma	Substitution - Missense
c.3519C>T; p.I1173I; 20:42104656-42104656	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4180G>A; p.G1394R; 20:42084704-42084704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1518G>A; p.W506*; 20:42448262-42448262	skin	malignant_melanoma	Substitution - Nonsense
c.3266G>A; p.R1089H; 20:42110387-42110387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1518G>A; p.W506*; 20:42448262-42448262	skin	malignant_melanoma	Substitution - Nonsense
c.809G>A; p.R270H; 20:42756512-42756512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2161C>T; p.R721C; 20:42282504-42282504	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3286C>T; p.P1096S; 20:42110367-42110367	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1056C>T; p.P352P; 20:42677963-42677963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4189G>T; p.V1397L; 20:42084695-42084695	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2418C>A; p.A806A; 20:42199379-42199379	liver	carcinoma	Substitution - coding silent
c.1056C>T; p.P352P; 20:42677963-42677963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2778G>A; p.W926*; 20:42141973-42141973	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.2778G>A; p.W926*; 20:42141973-42141973	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.2161C>T; p.R721C; 20:42282504-42282504	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2161C>T; p.R721C; 20:42282504-42282504	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3049G>A; p.V1017M; 20:42115315-42115315	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.3455A>G; p.E1152G; 20:42106787-42106787	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2502C>A; p.S834R; 20:42199295-42199295	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2804G>T; p.R935L; 20:42141947-42141947	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3011G>A; p.S1004N; 20:42118440-42118440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3659T>G; p.L1220R; 20:42102245-42102245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250C>T; p.L1084F; 20:42110403-42110403	skin	malignant_melanoma	Substitution - Missense
c.3841G>T; p.D1281Y; 20:42098492-42098492	liver	carcinoma	Substitution - Missense
c.3081G>A; p.T1027T; 20:42115283-42115283	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3900G>T; p.M1300I; 20:42098433-42098433	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3442C>T; p.L1148L; 20:42106800-42106800	skin	malignant_melanoma	Substitution - coding silent
c.3478G>A; p.D1160N; 20:42104697-42104697	skin	malignant_melanoma	Substitution - Missense
c.654G>A; p.K218K; 20:42771465-42771465	skin	malignant_melanoma	Substitution - coding silent
c.2044G>T; p.G682C; 20:42315818-42315818	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.808C>A; p.R270S; 20:42756513-42756513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2409G>T; p.R803S; 20:42199388-42199388	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4262A>G; p.Q1421R; 20:42081958-42081958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3436G>A; p.V1146I; 20:42106806-42106806	skin; trunk	malignant_melanoma	Substitution - Missense
c.3579C>T; p.N1193N; 20:42104596-42104596	ovary	other; neoplasm	Substitution - coding silent
c.1006G>A; p.E336K; 20:42678013-42678013	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4156C>A; p.Q1386K; 20:42084728-42084728	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1909C>T; p.R637W; 20:42315953-42315953	pancreas	carcinoma	Substitution - Missense
c.3837G>A; p.V1279V; 20:42098496-42098496	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1794C>T; p.T598T; 20:42350699-42350699	skin	malignant_melanoma	Substitution - coding silent
c.394G>A; p.G132R; 20:42791287-42791287	skin	malignant_melanoma	Substitution - Missense
c.1550C>T; p.T517M; 20:42448230-42448230	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2452A>G; p.R818G; 20:42199345-42199345	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2790G>A; p.K930K; 20:42141961-42141961	skin	malignant_melanoma	Substitution - coding silent
c.2768C>G; p.T923R; 20:42141983-42141983	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.3141C>T; p.V1047V; 20:42115223-42115223	skin	malignant_melanoma	Substitution - coding silent
c.986C>A; p.T329N; 20:42678033-42678033	liver	carcinoma	Substitution - Missense
c.1656C>A; p.L552L; 20:42352190-42352190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3262G>A; p.V1088I; 20:42110391-42110391	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2848C>T; p.R950W; 20:42128819-42128819	pancreas	carcinoma	Substitution - Missense
c.3997G>A; p.D1333N; 20:42085769-42085769	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3262G>A; p.V1088I; 20:42110391-42110391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1092A>G; p.R364R; 20:42677927-42677927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.446C>T; p.A149V; 20:42791235-42791235	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1757T>A; p.I586N; 20:42352089-42352089	skin	malignant_melanoma	Substitution - Missense
c.863C>T; p.P288L; 20:42678156-42678156	NS	malignant_melanoma	Substitution - Missense
c.863C>T; p.P288L; 20:42678156-42678156	NS	malignant_melanoma	Substitution - Missense
c.3995A>C; p.E1332A; 20:42085771-42085771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1153G>A; p.D385N; 20:42677866-42677866	skin	malignant_melanoma	Substitution - Missense
c.3805G>A; p.V1269M; 20:42098528-42098528	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2013C>A; p.A671A; 20:42315849-42315849	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3940A>G; p.T1314A; 20:42085826-42085826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3940A>G; p.T1314A; 20:42085826-42085826	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3940A>G; p.T1314A; 20:42085826-42085826	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.391delC; p.Q131fs*17; 20:42791290-42791290	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.395G>A; p.G132E; 20:42791286-42791286	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.684G>C; p.Q228H; 20:42771435-42771435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2252C>G; p.S751C; 20:42248804-42248804	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4181G>A; p.G1394E; 20:42084703-42084703	skin	malignant_melanoma	Substitution - Missense
c.4123C>T; p.L1375L; 20:42084761-42084761	skin	malignant_melanoma	Substitution - coding silent
c.1898T>G; p.L633R; 20:42315964-42315964	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4181G>A; p.G1394E; 20:42084703-42084703	NS	malignant_melanoma	Substitution - Missense
c.2436C>A; p.T812T; 20:42199361-42199361	breast	carcinoma	Substitution - coding silent
c.2709G>A; p.M903I; 20:42161391-42161391	skin	malignant_melanoma	Substitution - Missense
c.2709G>A; p.M903I; 20:42161391-42161391	skin	malignant_melanoma	Substitution - Missense
c.1420G>A; p.E474K; 20:42472296-42472296	skin	malignant_melanoma	Substitution - Missense
c.1420G>A; p.E474K; 20:42472296-42472296	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1420G>A; p.E474K; 20:42472296-42472296	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2709G>A; p.M903I; 20:42161391-42161391	skin	malignant_melanoma	Substitution - Missense
c.2340C>G; p.L780L; 20:42248716-42248716	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1202G>A; p.R401Q; 20:42472514-42472514	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1420G>A; p.E474K; 20:42472296-42472296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2709G>A; p.M903I; 20:42161391-42161391	skin	malignant_melanoma	Substitution - Missense
c.1608G>A; p.S536S; 20:42352238-42352238	pancreas	carcinoma	Substitution - coding silent
c.559C>T; p.H187Y; 20:42780227-42780227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2703G>A; p.T901T; 20:42161397-42161397	breast	carcinoma	Substitution - coding silent
c.4117C>T; p.R1373C; 20:42084767-42084767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3883G>A; p.V1295M; 20:42098450-42098450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1153G>T; p.D385Y; 20:42677866-42677866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.559C>T; p.H187Y; 20:42780227-42780227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4117C>T; p.R1373C; 20:42084767-42084767	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1752C>A; p.T584T; 20:42352094-42352094	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3924G>T; p.Q1308H; 20:42085842-42085842	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.559C>T; p.H187Y; 20:42780227-42780227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.197A>G; p.D66G; 20:42885824-42885824	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.559C>T; p.H187Y; 20:42780227-42780227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.98C>T; p.S33F; 20:42885923-42885923	skin	malignant_melanoma	Substitution - Missense
c.98C>T; p.S33F; 20:42885923-42885923	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1743G>A; p.R581R; 20:42352103-42352103	skin	malignant_melanoma	Substitution - coding silent
c.2739G>A; p.E913E; 20:42161361-42161361	skin	malignant_melanoma	Substitution - coding silent
c.4008C>T; p.H1336H; 20:42085758-42085758	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2913+1G>A; p.?; 20:42128753-42128753	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Unknown
c.1948G>A; p.V650M; 20:42315914-42315914	pancreas	carcinoma	Substitution - Missense
c.3048G>A; p.R1016R; 20:42118403-42118403	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2988G>T; p.M996I; 20:42118463-42118463	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1083C>G; p.L361L; 20:42677936-42677936	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.191T>C; p.M64T; 20:42885830-42885830	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3727C>T; p.L1243F; 20:42102177-42102177	skin	malignant_melanoma	Substitution - Missense
c.3630T>C; p.R1210R; 20:42102274-42102274	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1399C>T; p.P467S; 20:42472317-42472317	skin	malignant_melanoma	Substitution - Missense
c.2372G>A; p.R791K; 20:42236256-42236256	skin	malignant_melanoma	Substitution - Missense
c.847C>T; p.L283L; 20:42756474-42756474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3915C>A; p.F1305L; 20:42085851-42085851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1391T>A; p.L464Q; 20:42472325-42472325	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.847C>T; p.L283L; 20:42756474-42756474	skin	malignant_melanoma	Substitution - coding silent
c.2823G>A; p.G941G; 20:42141928-42141928	skin	malignant_melanoma	Substitution - coding silent
c.214G>T; p.G72*; 20:42885807-42885807	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3704C>T; p.P1235L; 20:42102200-42102200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3704C>T; p.P1235L; 20:42102200-42102200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3704C>T; p.P1235L; 20:42102200-42102200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1331_1332CC>TT; p.S444F; 20:42472384-42472385	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3290delC; p.P1097fs*6; 20:42110363-42110363	stomach	adenocarcinoma	Deletion - Frameshift
c.3704C>T; p.P1235L; 20:42102200-42102200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3290delC; p.P1097fs*6; 20:42110363-42110363	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3930G>A; p.W1310*; 20:42085836-42085836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1457G>A; p.G486E; 20:42448323-42448323	skin	malignant_melanoma	Substitution - Missense
c.827G>A; p.G276D; 20:42756494-42756494	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4293C>T; p.I1431I; 20:42081927-42081927	skin	malignant_melanoma	Substitution - coding silent
c.2751C>T; p.A917A; 20:42142000-42142000	skin	malignant_melanoma	Substitution - coding silent
c.2932C>T; p.H978Y; 20:42119953-42119953	large_intestine; colon	NS	Substitution - Missense
c.3978C>T; p.V1326V; 20:42085788-42085788	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.537G>A; p.V179V; 20:42780249-42780249	skin	malignant_melanoma	Substitution - coding silent
c.1930G>C; p.E644Q; 20:42315932-42315932	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.218C>G; p.S73C; 20:42791463-42791463	breast	carcinoma	Substitution - Missense
c.3061C>T; p.R1021*; 20:42115303-42115303	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3033G>A; p.L1011L; 20:42118418-42118418	skin	malignant_melanoma	Substitution - coding silent
c.3061C>T; p.R1021*; 20:42115303-42115303	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3061C>T; p.R1021*; 20:42115303-42115303	large_intestine; colon	carcinoma	Substitution - Nonsense
c.3061C>T; p.R1021*; 20:42115303-42115303	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3896A>G; p.E1299G; 20:42098437-42098437	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1974C>G; p.L658L; 20:42315888-42315888	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3896A>G; p.E1299G; 20:42098437-42098437	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2981G>A; p.W994*; 20:42118470-42118470	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2162G>A; p.R721H; 20:42282503-42282503	prostate	carcinoma	Substitution - Missense
c.806T>A; p.I269N; 20:42756515-42756515	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1578C>A; p.V526V; 20:42352268-42352268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3875C>T; p.S1292F; 20:42098458-42098458	skin	malignant_melanoma	Substitution - Missense
c.1997C>A; p.A666D; 20:42315865-42315865	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1212C>T; p.T404T; 20:42472504-42472504	skin	malignant_melanoma	Substitution - coding silent
c.2371A>C; p.R791R; 20:42236257-42236257	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3092G>A; p.G1031E; 20:42115272-42115272	skin	malignant_melanoma	Substitution - Missense
c.1032C>T; p.N344N; 20:42677987-42677987	skin	malignant_melanoma	Substitution - coding silent
c.982C>T; p.R328C; 20:42678037-42678037	skin	malignant_melanoma	Substitution - Missense
c.982C>T; p.R328C; 20:42678037-42678037	skin; shoulder	malignant_melanoma	Substitution - Missense
c.982C>T; p.R328C; 20:42678037-42678037	skin	malignant_melanoma	Substitution - Missense
c.2618G>A; p.R873H; 20:42161482-42161482	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1688C>T; p.S563F; 20:42352158-42352158	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.982C>T; p.R328C; 20:42678037-42678037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2518G>A; p.E840K; 20:42199279-42199279	skin	malignant_melanoma	Substitution - Missense
c.982C>T; p.R328C; 20:42678037-42678037	skin	malignant_melanoma	Substitution - Missense
c.2702C>T; p.T901M; 20:42161398-42161398	liver	carcinoma	Substitution - Missense
c.349C>T; p.P117S; 20:42791332-42791332	skin	malignant_melanoma	Substitution - Missense
c.2702C>T; p.T901M; 20:42161398-42161398	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2611C>A; p.P871T; 20:42161489-42161489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2702C>T; p.T901M; 20:42161398-42161398	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2702C>T; p.T901M; 20:42161398-42161398	liver	carcinoma	Substitution - Missense
c.541G>A; p.E181K; 20:42780245-42780245	breast	carcinoma	Substitution - Missense
c.2105G>C; p.S702T; 20:42315757-42315757	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1889A>T; p.E630V; 20:42315973-42315973	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4307G>A; p.R1436H; 20:42081913-42081913	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3927C>T; p.Y1309Y; 20:42085839-42085839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1302G>A; p.Q434Q; 20:42472414-42472414	skin	malignant_melanoma	Substitution - coding silent
c.4307G>A; p.R1436H; 20:42081913-42081913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4307G>A; p.R1436H; 20:42081913-42081913	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3804C>T; p.F1268F; 20:42098529-42098529	skin	malignant_melanoma	Substitution - coding silent
c.209C>A; p.P70H; 20:42885812-42885812	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1112G>T; p.G371V; 20:42677907-42677907	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.439G>A; p.V147M; 20:42791242-42791242	skin	malignant_melanoma	Substitution - Missense
c.2140-1G>A; p.?; 20:42282526-42282526	stomach	carcinoma; adenocarcinoma	Unknown
c.2502C>T; p.S834S; 20:42199295-42199295	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2502C>T; p.S834S; 20:42199295-42199295	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3112A>G; p.I1038V; 20:42115252-42115252	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2568C>T; p.S856S; 20:42161532-42161532	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1853G>A; p.G618E; 20:42350640-42350640	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.A152T; 20:42791227-42791227	NS	malignant_melanoma	Substitution - Missense
c.4344G>A; p.Q1448Q; 20:42080927-42080927	skin	malignant_melanoma	Substitution - coding silent
c.1231G>A; p.G411S; 20:42472485-42472485	prostate	carcinoma	Substitution - Missense
c.1888G>A; p.E630K; 20:42315974-42315974	breast	carcinoma	Substitution - Missense
c.2749-4T>C; p.?; 20:42142006-42142006	ovary	other; neoplasm	Unknown
c.841G>A; p.A281T; 20:42756480-42756480	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1888G>A; p.E630K; 20:42315974-42315974	skin; shoulder	malignant_melanoma	Substitution - Missense
c.841G>A; p.A281T; 20:42756480-42756480	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1109C>T; p.T370M; 20:42677910-42677910	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3861C>T; p.F1287F; 20:42098472-42098472	skin	malignant_melanoma	Substitution - coding silent
c.3861C>T; p.F1287F; 20:42098472-42098472	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3981C>T; p.S1327S; 20:42085785-42085785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3981C>T; p.S1327S; 20:42085785-42085785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2962G>A; p.E988K; 20:42118489-42118489	breast	carcinoma	Substitution - Missense
c.1109C>T; p.T370M; 20:42677910-42677910	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2176+7T>C; p.?; 20:42282482-42282482	breast	carcinoma	Unknown
c.352G>T; p.G118W; 20:42791329-42791329	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.981T>A; p.Y327*; 20:42678038-42678038	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.352G>T; p.G118W; 20:42791329-42791329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2539C>T; p.Q847*; 20:42199258-42199258	skin	malignant_melanoma	Substitution - Nonsense
c.1262A>C; p.N421T; 20:42472454-42472454	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4257G>A; p.M1419I; 20:42081963-42081963	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2009C>A; p.P670H; 20:42315853-42315853	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4176G>T; p.R1392S; 20:42084708-42084708	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4138C>T; p.R1380*; 20:42084746-42084746	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.784G>A; p.V262I; 20:42756537-42756537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>A; p.V262I; 20:42756537-42756537	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1091G>A; p.R364Q; 20:42677928-42677928	skin	malignant_melanoma	Substitution - Missense
c.1076G>A; p.R359Q; 20:42677943-42677943	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1091G>A; p.R364Q; 20:42677928-42677928	skin	malignant_melanoma	Substitution - Missense
c.1091G>A; p.R364Q; 20:42677928-42677928	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3560G>T; p.R1187M; 20:42104615-42104615	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4363G>C; p.V1455L; 20:42080908-42080908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1814C>T; p.T605M; 20:42350679-42350679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016T>C; p.I339T; 20:42678003-42678003	oesophagus	carcinoma	Substitution - Missense
c.2089C>T; p.P697S; 20:42315773-42315773	skin	malignant_melanoma	Substitution - Missense
c.2727C>A; p.Y909*; 20:42161373-42161373	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1959G>T; p.R653R; 20:42315903-42315903	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1821C>T; p.I607I; 20:42350672-42350672	skin	malignant_melanoma	Substitution - coding silent
c.3127C>A; p.L1043M; 20:42115237-42115237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1651C>T; p.H551Y; 20:42352195-42352195	skin	malignant_melanoma	Substitution - Missense
c.1887G>T; p.K629N; 20:42315975-42315975	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2338C>G; p.L780V; 20:42248718-42248718	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1358G>T; p.R453L; 20:42472358-42472358	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3799G>A; p.A1267T; 20:42098534-42098534	liver	carcinoma	Substitution - Missense
c.1431G>T; p.V477V; 20:42472285-42472285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2453G>T; p.R818M; 20:42199344-42199344	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1563C>G; p.I521M; 20:42352283-42352283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1292A>C; p.N431T; 20:42472424-42472424	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.325T>C; p.F109L; 20:42791356-42791356	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.325T>C; p.F109L; 20:42791356-42791356	pancreas	carcinoma	Substitution - Missense
c.4254G>A; p.E1418E; 20:42081966-42081966	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4254G>A; p.E1418E; 20:42081966-42081966	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2813A>T; p.N938I; 20:42141938-42141938	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2417C>A; p.A806D; 20:42199380-42199380	liver	carcinoma	Substitution - Missense
c.2417C>A; p.A806D; 20:42199380-42199380	liver	carcinoma	Substitution - Missense
c.2454G>A; p.R818R; 20:42199343-42199343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4104G>A; p.T1368T; 20:42084780-42084780	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1916C>A; p.A639E; 20:42315946-42315946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>A; p.R818R; 20:42199343-42199343	skin	malignant_melanoma	Substitution - coding silent
c.735C>A; p.H245Q; 20:42756586-42756586	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1620G>A; p.G540G; 20:42352226-42352226	skin	malignant_melanoma	Substitution - coding silent
c.749C>A; p.A250D; 20:42756572-42756572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>A; p.A250D; 20:42756572-42756572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3778G>C; p.D1260H; 20:42102126-42102126	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1620G>A; p.G540G; 20:42352226-42352226	skin	malignant_melanoma	Substitution - coding silent
c.4360G>A; p.E1454K; 20:42080911-42080911	skin; arm	malignant_melanoma	Substitution - Missense
c.1090C>T; p.R364*; 20:42677929-42677929	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1090C>T; p.R364*; 20:42677929-42677929	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.219T>G; p.S73S; 20:42791462-42791462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1279C>A; p.Q427K; 20:42472437-42472437	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.356C>T; p.A119V; 20:42791325-42791325	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1204C>A; p.Q402K; 20:42472512-42472512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4108C>T; p.P1370S; 20:42084776-42084776	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.147C>T; p.T49T; 20:42885874-42885874	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2526C>A; p.F842L; 20:42199271-42199271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2092C>T; p.L698L; 20:42315770-42315770	skin	malignant_melanoma	Substitution - coding silent
c.1246C>T; p.R416C; 20:42472470-42472470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4094A>G; p.Y1365C; 20:42084790-42084790	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3604C>T; p.Q1202*; 20:42104571-42104571	skin	malignant_melanoma	Substitution - Nonsense
c.3604C>T; p.Q1202*; 20:42104571-42104571	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.881C>T; p.P294L; 20:42678138-42678138	skin	malignant_melanoma	Substitution - Missense
c.881C>T; p.P294L; 20:42678138-42678138	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3604C>T; p.Q1202*; 20:42104571-42104571	skin	malignant_melanoma	Substitution - Nonsense
c.1054C>G; p.P352A; 20:42677965-42677965	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.921C>T; p.I307I; 20:42678098-42678098	skin	malignant_melanoma	Substitution - coding silent
c.921C>T; p.I307I; 20:42678098-42678098	skin	malignant_melanoma	Substitution - coding silent
c.3745G>A; p.E1249K; 20:42102159-42102159	skin	malignant_melanoma	Substitution - Missense
c.1157C>T; p.P386L; 20:42472559-42472559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4170C>T; p.D1390D; 20:42084714-42084714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4170C>T; p.D1390D; 20:42084714-42084714	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2191G>A; p.A731T; 20:42270439-42270439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2191G>A; p.A731T; 20:42270439-42270439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.215-1G>A; p.?; 20:42791467-42791467	skin	malignant_melanoma	Unknown
c.1157C>T; p.P386L; 20:42472559-42472559	skin	malignant_melanoma	Substitution - Missense
c.3766G>T; p.A1256S; 20:42102138-42102138	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.4010G>A; p.R1337K; 20:42085756-42085756	skin	malignant_melanoma	Substitution - Missense
c.1384C>A; p.L462I; 20:42472332-42472332	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3452C>G; p.T1151R; 20:42106790-42106790	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.465T>A; p.T155T; 20:42791216-42791216	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2278G>A; p.V760M; 20:42248778-42248778	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2460G>A; p.M820I; 20:42199337-42199337	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3700C>T; p.L1234L; 20:42102204-42102204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.859G>T; p.E287*; 20:42756462-42756462	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.594_595CC>AA; p.L198>?; 20:42771524-42771525	lung	carcinoma; adenocarcinoma	Complex
c.177A>G; p.T59T; 20:42885844-42885844	stomach	adenocarcinoma	Substitution - coding silent
c.859G>T; p.E287*; 20:42756462-42756462	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1526C>T; p.P509L; 20:42448254-42448254	skin	malignant_melanoma	Substitution - Missense
c.3051G>A; p.V1017V; 20:42115313-42115313	skin	malignant_melanoma	Substitution - coding silent
c.534C>A; p.A178A; 20:42780252-42780252	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.531C>T; p.I177I; 20:42780255-42780255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2083C>T; p.L695F; 20:42315779-42315779	skin	malignant_melanoma	Substitution - Missense
c.2083C>T; p.L695F; 20:42315779-42315779	skin	malignant_melanoma	Substitution - Missense
c.3493G>A; p.A1165T; 20:42104682-42104682	skin	malignant_melanoma	Substitution - Missense
c.2083C>T; p.L695F; 20:42315779-42315779	skin	malignant_melanoma	Substitution - Missense
c.1453C>T; p.P485S; 20:42448327-42448327	skin	malignant_melanoma	Substitution - Missense
c.1453C>T; p.P485S; 20:42448327-42448327	skin; axilla	malignant_melanoma	Substitution - Missense
c.2083C>T; p.L695F; 20:42315779-42315779	skin	malignant_melanoma	Substitution - Missense
c.4384T>A; p.S1462T; 20:42080887-42080887	skin	malignant_melanoma	Substitution - Missense
c.4110delC; p.S1371fs*31; 20:42084774-42084774	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1226C>T; p.P409L; 20:42472490-42472490	pancreas	carcinoma	Substitution - Missense
c.3349A>G; p.I1117V; 20:42106893-42106893	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3529G>T; p.E1177*; 20:42104646-42104646	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2675G>T; p.R892L; 20:42161425-42161425	skin	malignant_melanoma	Substitution - Missense
c.2740G>A; p.E914K; 20:42161360-42161360	skin	malignant_melanoma	Substitution - Missense
c.1435C>G; p.Q479E; 20:42472281-42472281	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.143G>T; p.G48V; 20:42885878-42885878	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1724G>T; p.G575V; 20:42352122-42352122	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1729C>T; p.P577S; 20:42352117-42352117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.740G>C; p.R247P; 20:42756581-42756581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2740G>A; p.E914K; 20:42161360-42161360	skin; shoulder	malignant_melanoma	Substitution - Missense
c.2963A>G; p.E988G; 20:42118488-42118488	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2740G>A; p.E914K; 20:42161360-42161360	skin; ankle	malignant_melanoma	Substitution - Missense
c.1583C>T; p.S528L; 20:42352263-42352263	skin	malignant_melanoma	Substitution - Missense
c.3216G>T; p.W1072C; 20:42110437-42110437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3180G>C; p.E1060D; 20:42110473-42110473	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1001G>A; p.W334*; 20:42678018-42678018	skin	malignant_melanoma	Substitution - Nonsense
c.3419A>C; p.E1140A; 20:42106823-42106823	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2876A>C; p.D959A; 20:42128791-42128791	skin	malignant_melanoma	Substitution - Missense
c.181G>A; p.E61K; 20:42885840-42885840	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2029C>A; p.Q677K; 20:42315833-42315833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.996C>T; p.G332G; 20:42678023-42678023	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2712G>C; p.K904N; 20:42161388-42161388	breast	carcinoma	Substitution - Missense
c.2333T>C; p.I778T; 20:42248723-42248723	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1670A>G; p.Y557C; 20:42352176-42352176	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.590G>A; p.R197Q; 20:42771529-42771529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2648C>A; p.P883H; 20:42161452-42161452	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.183G>T; p.E61D; 20:42885838-42885838	urinary_tract; bladder	carcinoma	Substitution - Missense
c.251C>T; p.S84F; 20:42791430-42791430	skin; arm	malignant_melanoma	Substitution - Missense
c.2446G>T; p.A816S; 20:42199351-42199351	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4104G>T; p.T1368T; 20:42084780-42084780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3145C>T; p.R1049C; 20:42115219-42115219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3145C>T; p.R1049C; 20:42115219-42115219	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1958G>T; p.R653L; 20:42315904-42315904	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.251C>T; p.S84F; 20:42791430-42791430	skin; arm	malignant_melanoma	Substitution - Missense
c.3896A>T; p.E1299V; 20:42098437-42098437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>T; p.R197*; 20:42771530-42771530	pancreas	carcinoma	Substitution - Nonsense
c.3966G>T; p.Q1322H; 20:42085800-42085800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.P174S; 20:42780266-42780266	skin	malignant_melanoma	Substitution - Missense
c.3389G>A; p.G1130E; 20:42106853-42106853	skin	malignant_melanoma	Substitution - Missense
c.1456G>A; p.G486R; 20:42448324-42448324	skin	malignant_melanoma	Substitution - Missense
c.1114C>A; p.P372T; 20:42677905-42677905	breast	carcinoma	Substitution - Missense
c.3015C>T; p.I1005I; 20:42118436-42118436	skin	malignant_melanoma	Substitution - coding silent
c.994G>T; p.G332C; 20:42678025-42678025	skin; abdomen	malignant_melanoma	Substitution - Missense
c.1561-2A>G; p.?; 20:42352287-42352287	ovary	other; neoplasm	Unknown

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]