Entrez Gene

Basic Information
Gene ID	55294
Name	FBXW7
Synonymous	AGO\|CDC4\|FBW6\|FBW7\|FBX30\|FBXO30\|FBXW6\|SEL-10\|SEL10;F-box and WD repeat domain containing 7;FBXW7;F-box and WD repeat domain containing 7
Definition	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)\|F-box protein FBW7\|F-box protein FBX30\|F-box protein SEL-10\|F-box/WD repeat-containing protein 7\|hAgo\|hCdc4\|homolog of C elegans sel-10
Position	4q31.3
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for FBXW7

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
FBXW7_C333_E8splice; chr4; 153249543	SUB; SPLICE; T; T/C; SOMATIC	HYPO; VALID; WGS
FBXW7_R689W; chr4; 153244092	SUB; MISSENSE; G; G/A; SOMATIC	RHB; PUTATIVE-HQ; EXOME
FBXW7_E471*; chr4; 153249367	SUB; NONSENSE; C; C/A; SOMATIC	T-ALL; VALID; WGS
FBXW7_E471G; chr4; 153249366	SUB; MISSENSE; T; T/C; SOMATIC	T-ALL; VALID; WGS
FBXW7_R465C; chr4; 153249385	SUB; MISSENSE; G; G/A; SOMATIC	T-ALL; VALID; WGS
FBXW7_V514F; chr4; 153247262	SUB; MISSENSE; C; C/A; SOMATIC	T-ALL; VALID; WGS
FBXW7_R465C; chr4; 153249385	SUB; MISSENSE; G; G/A; SOMATIC	T-ALL; VALID;
FBXW7_E327fs; chr4; 153253754	IFRAMESHIFT; -; -/T; SOMATIC	T-ALL; VALID;
FBXW7_R465C; chr4; 153249385	SUB; MISSENSE; G; G/A; SOMATIC	T-ALL; VALID;
FBXW7_R393fs; chr4; 153250882	IFRAMESHIFT; -; -/ACCTACACAT; SOMATIC	T-ALL; VALID;
FBXW7_G423V; chr4; 153249510	SUB; MISSENSE; C; C/A; SOMATIC	T-ALL; VALID;
FBXW7_V375M; chr4; 153251883	SUB; MISSENSE; C; C/T; SOMATIC	T-ALL; VALID;

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1667G>A; p.S556N;	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1429G>A; p.G477S;	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine	carcinoma; adenocarcinoma
c.1259A>G; p.H420R;	large_intestine	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine	carcinoma; adenocarcinoma
c.1057delA; p.S353fs*24;	large_intestine	carcinoma; adenocarcinoma
c.1812A>C; p.K604N;	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1631T>G; p.V544G;	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine; rectum	carcinoma; adenocarcinoma
c.1229C>T; p.T410I;	lung	carcinoma; squamous_cell_carcinoma
c.668G>T; p.R223L;	lung	carcinoma; squamous_cell_carcinoma
c.361_363GAG>TAT; p.E121Y; 4:153552043-153552045	endometrium	carcinoma; adenocarcinoma
c.1110_1111insTC; p.K371fs*7; 4:153471345-153471346	endometrium	carcinoma; adenocarcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	endometrium	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; adenocarcinoma
c.1435C>G; p.R479G; 4:153466817-153466817	endometrium	carcinoma; adenocarcinoma
c.1972C>T; p.R658*; 4:153463635-153463635	endometrium	carcinoma; adenocarcinoma
c.1417_1418insA; p.R473fs*4; 4:153468810-153468811	endometrium	carcinoma; adenocarcinoma
c.1398_1399insT; p.M467fs*5; 4:153468829-153468830	ovary	carcinoma; endometrioid_carcinoma
c.349_351delGAG; p.E117del; 4:153552055-153552057	bone	osteosarcoma
c.540delT; p.S182fs*57; 4:153490688-153490688	prostate	carcinoma
c.658C>T; p.Q220*; 4:153487600-153487600	large_intestine	adenoma
c.670C>T; p.R224*; 4:153487588-153487588	large_intestine	carcinoma; adenocarcinoma
c.670C>T; p.R224*; 4:153487588-153487588	large_intestine	carcinoma; adenocarcinoma
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine	carcinoma; adenocarcinoma
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine	carcinoma; adenocarcinoma
c.907C>T; p.Q303*; 4:153473276-153473276	large_intestine	carcinoma; adenocarcinoma
c.936A>C; p.R312S; 4:153473247-153473247	large_intestine	carcinoma; adenocarcinoma
c.1177C>T; p.R393*; 4:153470333-153470333	large_intestine	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine	carcinoma; adenocarcinoma
c.1177C>T; p.R393*; 4:153470333-153470333	large_intestine	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine	carcinoma; adenocarcinoma
c.1190G>A; p.G397D; 4:153470320-153470320	large_intestine	carcinoma; adenocarcinoma
c.1268G>T; p.G423V; 4:153468960-153468960	large_intestine	carcinoma; adenocarcinoma
c.1313C>T; p.S438F; 4:153468915-153468915	large_intestine	carcinoma; adenocarcinoma
c.1338G>A; p.W446*; 4:153468890-153468890	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine	adenoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1457G>A; p.W486*; 4:153466795-153466795	large_intestine	adenoma
c.1628G>A; p.R543K; 4:153466624-153466624	large_intestine	carcinoma; adenocarcinoma
c.1634A>G; p.Y545C; 4:153466618-153466618	large_intestine	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine	adenoma
c.1318G>A; p.D440N; 4:153468910-153468910	stomach	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	stomach	carcinoma; adenocarcinoma
c.1947G>A; p.W649*; 4:153463660-153463660	stomach	carcinoma; adenocarcinoma
c.1996delG; p.S668fs*39; 4:153463611-153463611	stomach	carcinoma; adenocarcinoma
c.2021G>A; p.R674Q; 4:153463586-153463586	stomach	carcinoma; adenocarcinoma
c.2077G>A; p.E693K; 4:153463530-153463530	stomach	carcinoma; adenocarcinoma
c.985G>T; p.G329W;	lung	carcinoma; squamous_cell_carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.466C>G; p.Q156E; 4:153551940-153551940	ovary	carcinoma; serous_carcinoma
c.1780C>T; p.L594F; 4:153464861-153464861	ovary	carcinoma; serous_carcinoma
c.1379A>G; p.H460R; 4:153468849-153468849	pancreas	carcinoma; ductal_carcinoma
c.791A>G; p.Q264R; 4:153478474-153478474	breast	carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1556A>G; p.Y519C; 4:153466696-153466696	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; colon	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; colon	carcinoma; adenocarcinoma
c.1510G>A; p.V504I; 4:153466742-153466742	large_intestine; colon	carcinoma; adenocarcinoma
c.32A>G; p.K11R; 4:153552374-153552374	lung	carcinoma; non_small_cell_carcinoma
c.45_46insCCT; p.T15_G16insP; 4:153552360-153552361	prostate	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	stomach	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	stomach	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	stomach	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	stomach	carcinoma; adenocarcinoma
c.943G>A; p.A315T; 4:153473240-153473240	stomach	carcinoma; adenocarcinoma
c.1436G>T; p.R479L; 4:153466816-153466816	stomach	carcinoma; adenocarcinoma
c.1451G>C; p.R484T; 4:153466801-153466801	stomach	carcinoma; adenocarcinoma
c.1510G>A; p.V504I; 4:153466742-153466742	stomach	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; endometrioid_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1514G>T; p.R505L; 4:153466738-153466738	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1435C>G; p.R479G; 4:153466817-153466817	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2065C>T; p.R689W; 4:153463542-153463542	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>T; p.R479L; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1435C>G; p.R479G; 4:153466817-153466817	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1555T>G; p.Y519D;	lung	carcinoma; squamous_cell_carcinoma
c.1947G>A; p.W649*; 4:153463660-153463660	lung	carcinoma; squamous_cell_carcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	lung	carcinoma; squamous_cell_carcinoma
c.1498C>A; p.H500N;	lung	carcinoma; squamous_cell_carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1301_1302ins22; p.I435fs*9; 4:153468926-153468927	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1880T>C; p.V627A; 4:153463727-153463727	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm
c.1958delC; p.T653fs*8; 4:153463649-153463649	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; rectum	carcinoma; adenocarcinoma
c.1417_1418insA; p.R473fs*4; 4:153468810-153468811	large_intestine; rectum	carcinoma; adenocarcinoma
c.1417_1418insA; p.R473fs*4; 4:153468810-153468811	large_intestine; colon	carcinoma; adenocarcinoma
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine; colon	carcinoma; adenocarcinoma
c.893C>G; p.P298R; 4:153473290-153473290	large_intestine; colon	carcinoma; adenocarcinoma
c.892C>T; p.P298S; 4:153473291-153473291	large_intestine; colon	carcinoma; adenocarcinoma
c.892C>T; p.P298S; 4:153473291-153473291	large_intestine; rectum	adenoma
c.1558G>A; p.D520N; 4:153466694-153466694	large_intestine; colon	adenoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.1576T>C; p.W526R; 4:153466676-153466676	large_intestine; rectum	carcinoma; adenocarcinoma
c.1576T>C; p.W526R; 4:153466676-153466676	large_intestine; colon	carcinoma; adenocarcinoma
c.1595C>A; p.T532N; 4:153466657-153466657	large_intestine; colon	carcinoma; adenocarcinoma
c.1736_1741delGGCACC; p.G579_Q581>E; 4:153464900-153464905	large_intestine; colon	carcinoma; adenocarcinoma
c.1744T>C; p.S582P; 4:153464897-153464897	large_intestine; rectum	carcinoma; adenocarcinoma
c.1514G>A; p.R505H;	large_intestine; colon	adenoma
c.1394G>T; p.R465L; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.861_862ins49; p.L288fs*45;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>A; p.R505S; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>T; p.R465L; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R505C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R505C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R505C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.G423V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.349_351delGAG; p.E117del; 4:153552055-153552057	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine	adenoma
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; endometrioid_carcinoma
c.1177C>T; p.R393*; 4:153470333-153470333	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1787C>T; p.S596F; 4:153464854-153464854	large_intestine	carcinoma; adenocarcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1514G>T; p.R505L; 4:153466738-153466738	large_intestine	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine	carcinoma; adenocarcinoma
c.1792A>G; p.N598D; 4:153464849-153464849	large_intestine	carcinoma; adenocarcinoma
c.2065C>T; p.R689W; 4:153463542-153463542	large_intestine	carcinoma; adenocarcinoma
c.?; p.R278*;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R479Q;	large_intestine	carcinoma; adenocarcinoma
c.?; p.W486*;	large_intestine	carcinoma; adenocarcinoma
c.?; p.V265I;	large_intestine	carcinoma; adenocarcinoma
c.?; p.M269I;	large_intestine	carcinoma; adenocarcinoma
c.575A>C; p.E192A; 4:153490653-153490653	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.575A>C; p.E192A; 4:153490653-153490653	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393_1394CG>TA; p.R465Y; 4:153468834-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1329_1330insGG; p.K444fs*55; 4:153468898-153468899	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1514G>A; p.R505H; 4:153466738-153466738	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393_1394CG>TA; p.R465Y; 4:153468834-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	adenoma
c.1099C>T; p.R367*; 4:153471357-153471357	large_intestine	carcinoma; adenocarcinoma
c.1513C>G; p.R505G;	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.?; p.R465H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.?; p.R465C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.?; p.R465H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.?; p.W425S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.?; p.R465L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma
c.1136A>G; p.H379R; 4:153470374-153470374	lung	carcinoma; adenocarcinoma
c.1438G>T; p.D480Y; 4:153466814-153466814	lung	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1514G>C; p.R505P; 4:153466738-153466738	large_intestine	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	adenoma; tubular
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; rectum	adenoma; tubular
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine; colon	adenoma; villous
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; rectum	adenoma; tubulovillous
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	breast	carcinoma
c.1379A>G; p.H460R; 4:153468849-153468849	breast	carcinoma
c.1436G>T; p.R479L; 4:153466816-153466816	breast	carcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1514G>H; p.R505?; 4:153466738-153466738	breast	carcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	breast	carcinoma
c.1379A>G; p.H460R; 4:153468849-153468849	breast	carcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	breast	carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1268G>T; p.G423V; 4:153468960-153468960	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; endometrioid_carcinoma
c.?; p.G423V;	large_intestine	carcinoma; adenocarcinoma
c.?; p.G423V;	large_intestine	carcinoma; adenocarcinoma
c.?; p.I434fs*3;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R441Q;	large_intestine	carcinoma; adenocarcinoma
c.?; p.W446*;	large_intestine	carcinoma; adenocarcinoma
c.?; p.W446*;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R465H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R473G;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R473fs*1;	large_intestine	carcinoma; adenocarcinoma
c.?; p.?; 4:153468809-153468809	large_intestine	carcinoma; adenocarcinoma
c.?; p.?; 4:153468809-153468809	large_intestine	carcinoma; adenocarcinoma
c.?; p.R479S;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R479P;	large_intestine	carcinoma; adenocarcinoma
c.?; p.D480H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R505C;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R505H;	large_intestine	carcinoma; adenocarcinoma
c.?; p.H535fs*1;	large_intestine	carcinoma; adenocarcinoma
c.1444A>C; p.T482P; 4:153466808-153466808	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1268G>T; p.G423V; 4:153468960-153468960	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2065C>T; p.R689W; 4:153463542-153463542	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2065C>T; p.R689W; 4:153463542-153463542	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1514G>T; p.R505L; 4:153466738-153466738	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	large_intestine	carcinoma; adenocarcinoma
c.490A>T; p.K164*; 4:153551916-153551916	endometrium	carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; endometrioid_carcinoma
c.1158C>G; p.C386W; 4:153470352-153470352	large_intestine	carcinoma; adenocarcinoma
c.338_342delAGGAG; p.E113fs*9; 4:153552064-153552068	soft_tissue; fat	liposarcoma; dedifferentiated
c.563G>T; p.C188F; 4:153490665-153490665	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour; spindle
c.1556A>G; p.Y519C; 4:153466696-153466696	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.1436G>C; p.R479P;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.?; p.R465H;	ovary	carcinoma; clear_cell_carcinoma
c.1642C>T; p.Q548*; 4:153466610-153466610	ovary	low_malignant_potential_(borderline)_tumour; serous
c.?; p.G423V;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.1417delA; p.R473fs*25; 4:153468811-153468811	NS	malignant_melanoma
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R505C;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R505L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R465H;	lung; left_upper_lobe	carcinoma; adenocarcinoma
c.1847C>T; p.T616I;	lung	carcinoma; small_cell_carcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.845C>A; p.S282*; 4:153478420-153478420	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; endometrioid_carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine; rectum	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; serous_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.670C>T; p.R224*; 4:153487588-153487588	large_intestine	carcinoma; adenocarcinoma
c.979delG; p.E327fs*15;	NS	malignant_melanoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; rectum	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine	adenoma
c.1105G>T; p.E369*;	large_intestine; colon	carcinoma; adenocarcinoma
c.555G>T; p.K185N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine; colon	carcinoma; adenocarcinoma
c.1409A>G; p.H470R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.664C>T; p.R222*;	large_intestine; colon	carcinoma; adenocarcinoma
c.770T>A; p.I257N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; colon	carcinoma; adenocarcinoma
c.1625A>T; p.N542I;	large_intestine; colon	carcinoma; adenocarcinoma
c.1679A>G; p.D560G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine; colon	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; colon	carcinoma; adenocarcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	large_intestine; colon	carcinoma; adenocarcinoma
c.1105G>T; p.E369*;	large_intestine; colon	carcinoma; adenocarcinoma
c.671G>A; p.R224Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1798G>T; p.D600Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	salivary_gland	carcinoma; adenoid_cystic_carcinoma
c.1777_1778insT; p.L594fs*11;	skin; abdomen	malignant_melanoma
c.1513C>T; p.R505C; 4:153466739-153466739	skin; abdomen	malignant_melanoma
c.1394G>A; p.R465H; 4:153468834-153468834	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	ovary	carcinoma; endometrioid_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.1267G>A; p.G423R;	lung	carcinoma; squamous_cell_carcinoma
c.1526A>T; p.Y509F;	lung	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	lung	carcinoma; squamous_cell_carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	endometrium	carcinoma; serous_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; endometrioid_carcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine; rectum	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	ovary	carcinoma; endometrioid_carcinoma
c.1258C>T; p.H420Y; 4:153468970-153468970	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia
c.1409A>C; p.H470P; 4:153468819-153468819	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1329_1330ins13; p.K444fs*32; 4:153468898-153468899	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma
c.1618C>T; p.H540Y; 4:153466634-153466634	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.832C>T; p.R278*; 4:153478433-153478433	large_intestine	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2054C>T; p.A685V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.1790G>A; p.G597E;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.840C>A; p.F280L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.328G>T; p.E110*; 4:153552078-153552078	skin	malignant_melanoma
c.2065C>T; p.R689W; 4:153463542-153463542	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1429G>A; p.G477S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.292C>T; p.Q98*; 4:153552114-153552114	large_intestine; colon	carcinoma; adenocarcinoma
c.479C>T; p.P160L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.575A>C; p.E192A; 4:153490653-153490653	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.302A>T; p.D101V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1394G>T; p.R465L; 4:153468834-153468834	endometrium	carcinoma; serous_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.585-4delg; p.?;	eye; uveal_tract	malignant_melanoma; spindle
c.1112A>C; p.K371T;	eye; uveal_tract	malignant_melanoma; spindle
c.1393C>T; p.R465C; 4:153468835-153468835	oesophagus	carcinoma; adenocarcinoma
c.832C>T; p.R278*; 4:153478433-153478433	oesophagus	carcinoma; adenocarcinoma
c.432G>A; p.T144T;	oesophagus	carcinoma; adenocarcinoma
c.832C>T; p.R278*; 4:153478433-153478433	oesophagus	carcinoma; squamous_cell_carcinoma
c.1513C>A; p.R505S; 4:153466739-153466739	oesophagus	carcinoma; squamous_cell_carcinoma
c.832C>T; p.R278*; 4:153478433-153478433	oesophagus	carcinoma; squamous_cell_carcinoma
c.1580A>G; p.D527G; 4:153466672-153466672	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2065C>T; p.R689W; 4:153463542-153463542	large_intestine; colon	carcinoma; adenocarcinoma
c.1436G>T; p.R479L; 4:153466816-153466816	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.1514G>T; p.R505L; 4:153466738-153466738	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.1513C>G; p.R505G;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.983_984insA; p.I330fs*2;	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.1627A>G; p.R543G;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.1452G>T; p.R484S;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.994G>A; p.E332K;	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.1514G>T; p.R505L; 4:153466738-153466738	large_intestine; colon	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine; colon	carcinoma; adenocarcinoma
c.726+1G>A; p.?;	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.930C>T; p.Y310Y;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.?; p.R479Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine	carcinoma; adenocarcinoma
c.303T>A; p.D101E;	lung	carcinoma; adenocarcinoma
c.1704_1705GG>TT; p.V568>?;	lung	carcinoma; adenocarcinoma
c.1095G>A; p.W365*;	lung	carcinoma; adenocarcinoma
c.1391T>A; p.V464E;	lung	carcinoma; adenocarcinoma
c.328G>T; p.E110*; 4:153552078-153552078	lung	carcinoma; adenocarcinoma
c.631G>A; p.D211N;	lung	carcinoma; adenocarcinoma
c.1617G>A; p.G539G;	lung	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.2066G>A; p.R689Q;	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.862-1G>A; p.?; 4:153473322-153473322	ovary	carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	skin; trunk	malignant_melanoma
c.1802C>T; p.S601F;	skin; trunk	malignant_melanoma
c.1685C>T; p.S562L;	skin; trunk	malignant_melanoma
c.1513C>T; p.R505C; 4:153466739-153466739	skin; trunk	malignant_melanoma
c.1513C>T; p.R505C; 4:153466739-153466739	skin; neck	malignant_melanoma
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.388_389insCTGAT; p.D130fs*41; 4:153552013-153552014	large_intestine; rectum	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	pancreas	carcinoma; ductal_carcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	pancreas	carcinoma; ductal_carcinoma
c.1338G>T; p.W446C;	pancreas	carcinoma; ductal_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>T; p.R479L; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1268G>T; p.G423V; 4:153468960-153468960	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
Intronic; p.?; 4:153470273-153470273	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2001_2002insG; p.S668fs*26; 4:153463605-153463606	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1322G>T; p.R441L;	breast	carcinoma
c.254T>G; p.I85S;	breast	carcinoma; ductal_carcinoma
c.244A>T; p.N82Y;	breast	carcinoma; ductal_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.566_567delAA; p.K189fs*66; 4:153490661-153490662	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV
c.1688T>C; p.I563T;	pancreas	NS
c.1436G>A; p.R479Q; 4:153466816-153466816	kidney	Wilms_tumour
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1177C>T; p.R393*; 4:153470333-153470333	large_intestine; colon	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1412A>G; p.E471G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1540G>T; p.V514F;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1411G>T; p.E471*;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1514G>T; p.R505L; 4:153466738-153466738	ovary	carcinoma; adenocarcinoma
c.1514G>T; p.R505L; 4:153466738-153466738	ovary	carcinoma
c.1514G>T; p.R505L; 4:153466738-153466738	ovary	carcinoma
c.?; p.S668fs*26;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R278*;	large_intestine	carcinoma; adenocarcinoma
c.?; p.T576fs*29;	large_intestine	carcinoma; adenocarcinoma
c.?; p.R658*;	large_intestine	carcinoma; adenocarcinoma
c.?; p.S353fs*24;	large_intestine	carcinoma; adenocarcinoma
c.1644_1645ins416; p.F549fs*6;	breast	carcinoma
c.1205_1206insT; p.L403fs*34; 4:153470304-153470305	large_intestine	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; serous_carcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; serous_carcinoma
c.2065C>T; p.R689W; 4:153463542-153463542	endometrium	carcinoma; serous_carcinoma
c.1322G>C; p.R441P;	endometrium	carcinoma; serous_carcinoma
c.1385C>T; p.S462F;	endometrium	carcinoma; serous_carcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1099C>T; p.R367*; 4:153471357-153471357	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2014G>A; p.V672M; 4:153463593-153463593	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2014G>A; p.V672M; 4:153463593-153463593	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1394G>A; p.R465H; 4:153468834-153468834	ovary	carcinoma; serous_carcinoma
c.1859C>G; p.P620R;	lung	carcinoma; adenocarcinoma
c.1754G>C; p.S585T;	lung	carcinoma; squamous_cell_carcinoma
c.535C>T; p.R179C;	lung	carcinoma; squamous_cell_carcinoma
c.1513C>G; p.R505G;	lung	carcinoma; squamous_cell_carcinoma
c.1513C>A; p.R505S; 4:153466739-153466739	lung	carcinoma; squamous_cell_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	lung	carcinoma; squamous_cell_carcinoma
c.1963G>T; p.E655*;	lung	carcinoma; squamous_cell_carcinoma
c.1550G>A; p.G517E;	lung	carcinoma; squamous_cell_carcinoma
c.1952T>A; p.L651*; 4:153463655-153463655	ovary	carcinoma; serous_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	ovary	carcinoma; serous_carcinoma
c.1959G>C; p.T653T;	lung	carcinoma; squamous_cell_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	lung	carcinoma; adenocarcinoma
c.1309G>T; p.G437*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.886C>T; p.L296L;	lung	carcinoma; adenocarcinoma
c.1435C>T; p.R479*;	lung	carcinoma; squamous_cell_carcinoma
c.337G>T; p.E113*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.304G>A; p.E102K;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.2033C>G; p.S678*;	lung	carcinoma; squamous_cell_carcinoma
c.1513C>G; p.R505G;	lung	carcinoma; squamous_cell_carcinoma
c.1368C>A; p.T456T;	lung	carcinoma; squamous_cell_carcinoma
c.1435C>A; p.R479R;	lung	carcinoma; squamous_cell_carcinoma
c.670C>T; p.R224*; 4:153487588-153487588	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.925delC; p.R309fs*33;	breast	carcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	breast	carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; endometrioid_carcinoma
c.40C>T; p.R14*;	endometrium	carcinoma; endometrioid_carcinoma
c.1435C>T; p.R479*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; caecum	carcinoma; adenocarcinoma
c.1513C>G; p.R505G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.39A>G; p.R13R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1580A>G; p.D527G; 4:153466672-153466672	large_intestine; colon	carcinoma; adenocarcinoma
c.1321C>T; p.R441W; 4:153468907-153468907	large_intestine; caecum	carcinoma; adenocarcinoma
c.1437A>G; p.R479R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2079A>G; p.E693E;	large_intestine; colon	carcinoma; adenocarcinoma
c.2067G>A; p.R689R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1321C>A; p.R441R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1947G>A; p.W649*; 4:153463660-153463660	large_intestine; colon	carcinoma; adenocarcinoma
c.294A>G; p.Q98Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.902T>C; p.L301P;	breast	carcinoma
c.37C>T; p.R13*; 4:153552369-153552369	large_intestine; colon	carcinoma; adenocarcinoma
c.339G>T; p.E113D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; caecum	carcinoma; adenocarcinoma
c.2065C>T; p.R689W; 4:153463542-153463542	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; caecum	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.1451G>T; p.R484M; 4:153466801-153466801	large_intestine; colon	carcinoma; adenocarcinoma
c.909A>G; p.Q303Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1417delA; p.R473fs*25; 4:153468811-153468811	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; caecum	carcinoma; adenocarcinoma
c.39A>G; p.R13R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1877C>A; p.A626D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1378C>T; p.H460Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.1634A>G; p.Y545C; 4:153466618-153466618	large_intestine; caecum	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine; colon	carcinoma; adenocarcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	large_intestine; colon	carcinoma; adenocarcinoma
c.860A>T; p.E287V;	large_intestine; colon	carcinoma; adenocarcinoma
c.575A>C; p.E192A; 4:153490653-153490653	large_intestine; colon	NS
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; colon	carcinoma; adenocarcinoma
c.1428C>A; p.S476R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.1099C>T; p.R367*; 4:153471357-153471357	large_intestine; colon	carcinoma; adenocarcinoma
c.1015A>T; p.R339*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1558G>T; p.D520Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.500A>C; p.K167T;	large_intestine; colon	carcinoma; adenocarcinoma
c.41G>A; p.R14Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.945T>C; p.A315A;	large_intestine; colon	carcinoma; adenocarcinoma
c.432G>A; p.T144T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; colon	carcinoma; adenocarcinoma
c.1741C>T; p.Q581*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; colon	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine; colon	carcinoma; adenocarcinoma
c.1558G>A; p.D520N; 4:153466694-153466694	large_intestine; colon	carcinoma; adenocarcinoma
c.1973G>A; p.R658Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1514G>A; p.R505H; 4:153466738-153466738	large_intestine; colon	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; caecum	carcinoma; adenocarcinoma
c.880T>C; p.S294P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1111A>T; p.K371*;	large_intestine; colon	carcinoma; adenocarcinoma
c.277G>T; p.G93*;	large_intestine; colon	carcinoma; adenocarcinoma
c.467A>G; p.Q156R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.586A>T; p.T196S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1951T>C; p.L651L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1435C>T; p.R479*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1105G>T; p.E369*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.572C>G; p.S191*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1594A>G; p.T532A;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1202_1204delACA; p.N401delN;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1484A>C; p.H495P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; rectum	carcinoma; adenocarcinoma
c.1318G>T; p.D440Y;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1793A>G; p.N598S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.846A>G; p.S282S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1745C>T; p.S582L; 4:153464896-153464896	large_intestine; rectum	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine; rectum	NS
c.1513C>T; p.R505C; 4:153466739-153466739	large_intestine; rectum	carcinoma; adenocarcinoma
c.41G>A; p.R14Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; rectum	carcinoma; adenocarcinoma
c.715A>C; p.K239Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1972C>T; p.R658*; 4:153463635-153463635	large_intestine; rectum	carcinoma; adenocarcinoma
c.536G>A; p.R179H;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1798G>T; p.D600Y;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1309G>A; p.G437R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	large_intestine; rectum	carcinoma; adenocarcinoma
c.1101A>G; p.R367R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.486T>A; p.Y162*;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.1252G>A; p.V418M;	endometrium	carcinoma; endometrioid_carcinoma
c.739C>A; p.P247T;	endometrium	carcinoma; endometrioid_carcinoma
c.1105G>T; p.E369*;	endometrium	carcinoma; endometrioid_carcinoma
c.671G>A; p.R224Q;	endometrium	carcinoma; endometrioid_carcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; endometrioid_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	endometrium	carcinoma; endometrioid_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	endometrium	carcinoma; endometrioid_carcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	endometrium	carcinoma; endometrioid_carcinoma
c.1634A>G; p.Y545C; 4:153466618-153466618	breast	carcinoma
c.1135C>T; p.H379Y;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1634A>G; p.Y545C; 4:153466618-153466618	endometrium	carcinoma; endometrioid_carcinoma
c.403G>T; p.D135Y;	endometrium	carcinoma; endometrioid_carcinoma
c.985+1delg; p.?;	endometrium	carcinoma; endometrioid_carcinoma
c.958C>A; p.L320I;	endometrium	carcinoma; endometrioid_carcinoma
c.744G>T; p.E248D;	endometrium	carcinoma; endometrioid_carcinoma
c.1973G>A; p.R658Q;	endometrium	carcinoma; endometrioid_carcinoma
c.1268G>T; p.G423V; 4:153468960-153468960	endometrium	carcinoma; endometrioid_carcinoma
c.1848A>T; p.T616T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1395T>C; p.R465R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1788T>A; p.S596S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1594A>G; p.T532A;	large_intestine; colon	carcinoma; adenocarcinoma
c.2016G>A; p.V672V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1781T>C; p.L594P;	large_intestine; colon	carcinoma; adenocarcinoma
c.936A>G; p.R312R;	large_intestine; colon	carcinoma; adenocarcinoma
c.791A>G; p.Q264R; 4:153478474-153478474	large_intestine; caecum	carcinoma; adenocarcinoma
c.2079A>G; p.E693E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1156T>A; p.C386S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.468A>T; p.Q156H;	large_intestine; colon	carcinoma; adenocarcinoma
c.492A>G; p.K164K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	endometrium	carcinoma; endometrioid_carcinoma
c.1144C>A; p.H382N;	endometrium	carcinoma; endometrioid_carcinoma
c.154C>T; p.H52Y;	endometrium	carcinoma; endometrioid_carcinoma
c.2065C>T; p.R689W; 4:153463542-153463542	endometrium	carcinoma; endometrioid_carcinoma
c.1427G>T; p.S476I;	endometrium	carcinoma; endometrioid_carcinoma
c.1513C>G; p.R505G;	urinary_tract; bladder	carcinoma
c.744G>T; p.E248D;	endometrium	carcinoma; endometrioid_carcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	endometrium	carcinoma; endometrioid_carcinoma
c.1277C>T; p.S426L;	urinary_tract; bladder	carcinoma
c.1436G>C; p.R479P;	urinary_tract; bladder	carcinoma
c.963G>A; p.W321*;	urinary_tract; bladder	carcinoma
c.1513C>G; p.R505G;	urinary_tract; bladder	carcinoma
c.1178G>A; p.R393Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1972C>T; p.R658*; 4:153463635-153463635	large_intestine; colon	carcinoma; adenocarcinoma
c.835G>T; p.D279Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.820_824delCCCCA; p.P274fs*11;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1475delA; p.Q492fs*6;	large_intestine; rectum	carcinoma; adenocarcinoma
c.572C>G; p.S191*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1781T>C; p.L594P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1511T>C; p.V504A;	large_intestine; colon	carcinoma; adenocarcinoma
c.934A>G; p.R312G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1730T>C; p.L577S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2066G>T; p.R689L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.845C>A; p.S282*; 4:153478420-153478420	large_intestine; colon	carcinoma; adenocarcinoma
c.1953G>A; p.L651L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1259_1260insGTGGGACA; p.H420fs*13;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1457G>T; p.W486L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1439A>G; p.D480G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1395T>C; p.R465R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1629A>G; p.R543R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.39A>G; p.R13R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1268G>T; p.G423V; 4:153468960-153468960	large_intestine; caecum	carcinoma; adenocarcinoma
c.329A>G; p.E110G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1635T>C; p.Y545Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.1594A>G; p.T532A;	large_intestine; colon	carcinoma; adenocarcinoma
c.934A>G; p.R312G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1313C>A; p.S438Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.293A>G; p.Q98R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1513C>G; p.R505G;	urinary_tract; bladder	carcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	endometrium	carcinoma; endometrioid_carcinoma
c.1268G>T; p.G423V; 4:153468960-153468960	endometrium	carcinoma; endometrioid_carcinoma
c.1972C>T; p.R658*; 4:153463635-153463635	endometrium	carcinoma; endometrioid_carcinoma
c.386A>C; p.D129A;	endometrium	carcinoma; endometrioid_carcinoma
c.1177C>T; p.R393*; 4:153470333-153470333	endometrium	carcinoma; endometrioid_carcinoma
c.1322G>A; p.R441Q;	endometrium	carcinoma; endometrioid_carcinoma
c.802_803delAT; p.M268fs*18;	endometrium	carcinoma; endometrioid_carcinoma
c.2066G>A; p.R689Q;	endometrium	carcinoma; endometrioid_carcinoma
c.1972C>T; p.R658*; 4:153463635-153463635	endometrium	carcinoma; endometrioid_carcinoma
c.37C>T; p.R13*; 4:153552369-153552369	endometrium	carcinoma; endometrioid_carcinoma
c.415C>A; p.H139N;	endometrium	carcinoma; endometrioid_carcinoma
c.711G>A; p.W237*;	endometrium	carcinoma; endometrioid_carcinoma
c.432G>A; p.T144T;	endometrium	carcinoma; endometrioid_carcinoma
c.1635T>C; p.Y545Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.1972C>T; p.R658*; 4:153463635-153463635	large_intestine; colon	carcinoma; adenocarcinoma
c.909A>G; p.Q303Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.834A>G; p.R278R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1269A>T; p.G423G;	large_intestine; colon	carcinoma; adenocarcinoma
c.294A>G; p.Q98Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1744T>A; p.S582T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1581T>C; p.D527D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1259A>G; p.H420R;	large_intestine; colon	carcinoma; adenocarcinoma
c.40C>T; p.R14*;	large_intestine; colon	carcinoma; adenocarcinoma
c.791A>G; p.Q264R; 4:153478474-153478474	large_intestine; colon	carcinoma; adenocarcinoma
c.33A>C; p.K11N;	large_intestine; colon	carcinoma; adenocarcinoma
c.660A>G; p.Q220Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.2079A>G; p.E693E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1781T>C; p.L594P;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1633T>C; p.Y545H;	large_intestine; rectum	carcinoma; adenocarcinoma
c.39A>G; p.R13R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1327C>T; p.L443F;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1738C>T; p.H580Y;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1409A>G; p.H470R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.294A>G; p.Q98Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2078A>G; p.E693G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1395T>C; p.R465R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.670C>T; p.R224*; 4:153487588-153487588	endometrium	carcinoma; endometrioid_carcinoma
c.1637C>T; p.S546L;	urinary_tract; bladder	carcinoma
c.2033C>G; p.S678*;	urinary_tract; bladder	carcinoma
c.1212delA; p.V405fs*10;	large_intestine; colon	carcinoma; adenocarcinoma
c.1313C>T; p.S438F; 4:153468915-153468915	large_intestine; colon	carcinoma; adenocarcinoma
c.1511T>C; p.V504A;	large_intestine; colon	carcinoma; adenocarcinoma
c.2021G>T; p.R674L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1260T>C; p.H420H;	large_intestine; colon	carcinoma; adenocarcinoma
c.293A>G; p.Q98R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1322G>T; p.R441L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1101A>G; p.R367R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1100G>T; p.R367L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1338G>A; p.W446*; 4:153468890-153468890	large_intestine; colon	carcinoma; adenocarcinoma
c.660A>G; p.Q220Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1557T>A; p.Y519*;	cervix	carcinoma; squamous_cell_carcinoma
c.1746G>A; p.S582S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1395T>C; p.R465R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.943G>A; p.A315T; 4:153473240-153473240	large_intestine; rectum	carcinoma; adenocarcinoma
c.2079A>G; p.E693E;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1513C>G; p.R505G;	endometrium	carcinoma; endometrioid_carcinoma
c.1172G>A; p.G391D;	breast	carcinoma
c.1322G>T; p.R441L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1312T>C; p.S438P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1746G>A; p.S582S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1417_1418insA; p.R473fs*4; 4:153468810-153468811	large_intestine; rectum	carcinoma; adenocarcinoma
c.1101A>G; p.R367R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1393C>T; p.R465C; 4:153468835-153468835	endometrium	carcinoma; endometrioid_carcinoma
c.1070G>A; p.R357K;	breast	carcinoma
c.1337G>A; p.W446*;	large_intestine; colon	carcinoma; adenocarcinoma
c.844T>A; p.S282T;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1439A>G; p.D480G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1394G>A; p.R465H; 4:153468834-153468834	endometrium	carcinoma; endometrioid_carcinoma
c.1154C>A; p.T385K;	urinary_tract; bladder	carcinoma
c.1259A>G; p.H420R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1786T>C; p.S596P;	large_intestine; colon	carcinoma; adenocarcinoma
c.834A>G; p.R278R;	large_intestine; colon	carcinoma; adenocarcinoma
c.792A>G; p.Q264Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.33A>G; p.K11K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1338G>A; p.W446*; 4:153468890-153468890	large_intestine; colon	carcinoma; adenocarcinoma
c.862-1G>A; p.?; 4:153473322-153473322	large_intestine; colon	carcinoma; adenocarcinoma
c.1336T>C; p.W446R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1321C>T; p.R441W; 4:153468907-153468907	large_intestine; colon	carcinoma; adenocarcinoma
c.2001delG; p.S668fs*39; 4:153463606-153463606	large_intestine; colon	carcinoma; adenocarcinoma
c.1579G>A; p.D527N;	large_intestine; colon	carcinoma; adenocarcinoma
c.862-1G>T; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.1269A>G; p.G423G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1436G>A; p.R479Q; 4:153466816-153466816	large_intestine; caecum	carcinoma; adenocarcinoma
c.1321C>A; p.R441R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2078A>G; p.E693G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.894C>T; p.P298P;	large_intestine; colon	carcinoma; adenocarcinoma
c.909A>G; p.Q303Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1619A>G; p.H540R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.37C>T; p.R13*; 4:153552369-153552369	large_intestine; rectum	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1393C>T; p.R465C; 4:153468835-153468835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.832C>T; p.R278*; 4:153478433-153478433	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1394G>A; p.R465H; 4:153468834-153468834	large_intestine	carcinoma; adenocarcinoma
c.1513C>T; p.R505C; 4:153466739-153466739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1690C>G; p.R564G;	skin	malignant_melanoma
c.1118C>T; p.P373L;	skin	malignant_melanoma
c.1499A>G; p.H500R;	skin; mucosal	malignant_melanoma
c.1636T>C; p.S546P;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.2001delG; p.S668fs*39; 4:153463606-153463606	stomach	adenocarcinoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]