Entrez Gene

Basic Information
Gene ID	4763
Name	NF1
Synonymous	neurofibromin 1;NF1;neurofibromin 1
Definition	neurofibromatosis-related protein NF-1\|neurofibromin
Position	17q11.2
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 0.41.

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.1567G>T; p.A523S; 17:31219044-31219044	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6118_6119delTC; p.S2040fs*19; 17:31336444-31336445	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.7783A>G; p.K2595E; 17:31357004-31357004	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3790G>A; p.E1264K; 17:31235692-31235692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.4086_4092delAAGTGTG; p.S1363fs*13; 17:31249095-31249101	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.2341_2358del18; p.H781_Q786del; 17:31227538-31227555	soft_tissue; nerve_sheath	neurofibroma	Deletion - In frame
c.2500C>T; p.L834L; 17:31229115-31229115	skin	malignant_melanoma	Substitution - coding silent
c.961G>T; p.A321S; 17:31200494-31200494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4203_4204insT; p.I1402fs*22; 17:31258373-31258374	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Insertion - Frameshift
c.6927G>A; p.S2309S; 17:31340510-31340510	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6927G>A; p.S2309S; 17:31340510-31340510	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1658A>G; p.H553R; 17:31221866-31221866	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.2041C>T; p.R681*; 17:31226474-31226474	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1658A>G; p.H553R; 17:31221866-31221866	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.1658A>G; p.H553R; 17:31221866-31221866	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.2041C>T; p.R681*; 17:31226474-31226474	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.3546T>C; p.V1182V; 17:31233051-31233051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6853_6869del17; p.Y2285fs*16; 17:31338737-31338753	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1658A>G; p.H553R; 17:31221866-31221866	autonomic_ganglia	ganglioneuroma	Substitution - Missense
c.6927G>A; p.S2309S; 17:31340510-31340510	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3113+1G>T; p.?; 17:31230383-31230383	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Unknown
c.4437_4438delCC; p.L1480fs*1; 17:31260375-31260376	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1398_1399insA; p.T467fs*3; 17:31214456-31214457	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.4769T>G; p.L1590*; 17:31265273-31265273	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.8233G>A; p.G2745R; 17:31360559-31360559	breast	carcinoma	Substitution - Missense
c.4437_4438delCC; p.L1480fs*1; 17:31260375-31260376	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5956_5957insAC; p.K1986fs*27; 17:31334981-31334982	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.8233G>A; p.G2745R; 17:31360559-31360559	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4769T>G; p.L1590*; 17:31265273-31265273	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.8147G>A; p.G2716E; 17:31359002-31359002	skin; trunk	malignant_melanoma	Substitution - Missense
c.6428-10T>G; p.?; 17:31337358-31337358	pancreas	carcinoma	Unknown
c.8023C>T; p.P2675S; 17:31358532-31358532	skin	malignant_melanoma	Substitution - Missense
c.538T>C; p.L180L; 17:31169949-31169949	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.528T>A; p.D176E; 17:31169939-31169939	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.6323_6326delCTTT; p.F2109fs*1; 17:31336810-31336813	skin	malignant_melanoma	Deletion - Frameshift
c.889_889delA; p.K297fs*20; 17:31200422-31200422	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.988G>A; p.A330T; 17:31200521-31200521	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.7655_7659delAGGCT; p.K2552fs*2; 17:31356499-31356503	skin; scalp	malignant_melanoma	Deletion - Frameshift
c.528T>A; p.D176E; 17:31169939-31169939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.501T>C; p.C167C; 17:31169912-31169912	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.335A>G; p.Q112R; 17:31163232-31163232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4443T>A; p.D1481E; 17:31260381-31260381	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4084C>T; p.R1362*; 17:31249093-31249093	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.5609+1G>T; p.?; 17:31327840-31327840	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.7781G>C; p.R2594P; 17:31357002-31357002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4084C>T; p.R1362*; 17:31249093-31249093	skin	malignant_melanoma	Substitution - Nonsense
c.4084C>T; p.R1362*; 17:31249093-31249093	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7416T>A; p.P2472P; 17:31350277-31350277	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4084C>T; p.R1362*; 17:31249093-31249093	ovary	other; neoplasm	Substitution - Nonsense
c.4084C>T; p.R1362*; 17:31249093-31249093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Nonsense
c.4084C>T; p.R1362*; 17:31249093-31249093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3375_3376delGC; p.Q1126fs*68; 17:31232760-31232761	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3491_3492CC>AT; p.S1164Y; 17:31232876-31232877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4084C>T; p.R1362*; 17:31249093-31249093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.4084C>T; p.R1362*; 17:31249093-31249093	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.483A>T; p.L161F; 17:31169894-31169894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4084C>T; p.R1362*; 17:31249093-31249093	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.2293C>T; p.R765C; 17:31227259-31227259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.7781G>C; p.R2594P; 17:31357002-31357002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.7416T>A; p.P2472P; 17:31350277-31350277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7646C>G; p.S2549*; 17:31356490-31356490	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Substitution - Nonsense
c.2178G>C; p.V726V; 17:31226611-31226611	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - coding silent
c.6758G>A; p.G2253E; 17:31338078-31338078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2487T>A; p.S829S; 17:31229102-31229102	liver	carcinoma	Substitution - coding silent
c.8499T>C; p.N2833N; 17:31374134-31374134	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.6474A>G; p.L2158L; 17:31337414-31337414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2339_2356del18; p.T780_Q786>K; 17:31227536-31227553	soft_tissue; nerve_sheath	neurofibroma	Complex - deletion inframe
c.4760T>A; p.L1587*; 17:31265264-31265264	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7615+1G>A; p.?; 17:31352415-31352415	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1105C>T; p.Q369*; 17:31201079-31201079	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7646C>G; p.S2549*; 17:31356490-31356490	central_nervous_system; brain	glioma	Substitution - Nonsense
c.6229G>A; p.D2077N; 17:31336716-31336716	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1989G>T; p.G663G; 17:31225238-31225238	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7646C>G; p.S2549*; 17:31356490-31356490	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3917G>A; p.R1306Q; 17:31235964-31235964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7615+1G>A; p.?; 17:31352415-31352415	skin	malignant_melanoma	Unknown
c.1105C>T; p.Q369*; 17:31201079-31201079	soft_tissue; fat	liposarcoma; pleomorphic	Substitution - Nonsense
c.271G>A; p.E91K; 17:31159076-31159076	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Missense
c.5738_5741delAGAC; p.K1913fs*11; 17:31330424-31330427	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.7491C>A; p.P2497P; 17:31352290-31352290	skin	malignant_melanoma	Substitution - coding silent
c.7211C>T; p.A2404V; 17:31349141-31349141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1659T>C; p.H553H; 17:31221867-31221867	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1556A>C; p.Q519P; 17:31219033-31219033	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.2543G>T; p.G848V; 17:31229158-31229158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.543_546delGTAT; p.Y182fs*8; 17:31169954-31169957	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5956_5957insCA; p.K1986fs*27; 17:31334981-31334982	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.3028C>T; p.Q1010*; 17:31230297-31230297	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.5521C>T; p.Q1841*; 17:31327751-31327751	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3028C>T; p.Q1010*; 17:31230297-31230297	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5521C>T; p.Q1841*; 17:31327751-31327751	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1556A>C; p.Q519P; 17:31219033-31219033	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.8233G>T; p.G2745*; 17:31360559-31360559	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5991G>A; p.W1997*; 17:31335016-31335016	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.5991G>A; p.W1997*; 17:31335016-31335016	adrenal_gland	pheochromocytoma	Substitution - Nonsense
c.416C>T; p.S139F; 17:31163313-31163313	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4490delC; p.F1498fs*2; 17:31260428-31260428	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.416C>T; p.S139F; 17:31163313-31163313	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.4958G>A; p.R1653H; 17:31325942-31325942	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.7630T>G; p.F2544V; 17:31356474-31356474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3544G>T; p.V1182F; 17:31233049-31233049	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4502A>G; p.D1501G; 17:31260440-31260440	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1766_1783del18; p.M590_E595delMLSSTE; 17:31223488-31223505	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.5756A>G; p.E1919G; 17:31330442-31330442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6576T>A; p.Y2192*; 17:31337516-31337516	skin; hip	malignant_melanoma	Substitution - Nonsense
c.5756A>G; p.E1919G; 17:31330442-31330442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3471A>G; p.V1157V; 17:31232856-31232856	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2246C>A; p.S749*; 17:31226679-31226679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7909C>T; p.R2637*; 17:31357308-31357308	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3283_3284insA; p.L1095fs*11; 17:31232158-31232159	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.5488C>T; p.R1830C; 17:31327718-31327718	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4525C>T; p.R1509C; 17:31260463-31260463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2531T>C; p.L844P; 17:31229146-31229146	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7512_7521del10; p.A2505fs*15; 17:31352311-31352320	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5488C>T; p.R1830C; 17:31327718-31327718	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5488C>T; p.R1830C; 17:31327718-31327718	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4543C>T; p.Q1515*; 17:31260481-31260481	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2918A>C; p.D973A; 17:31229902-31229902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.7909C>T; p.R2637*; 17:31357308-31357308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5488C>T; p.R1830C; 17:31327718-31327718	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2246C>A; p.S749*; 17:31226679-31226679	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1264G>A; p.A422T; 17:31206243-31206243	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1466A>G; p.Y489C; 17:31214524-31214524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2530C>T; p.L844F; 17:31229145-31229145	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2617C>T; p.R873C; 17:31229232-31229232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2741G>T; p.R914L; 17:31229356-31229356	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1466A>G; p.Y489C; 17:31214524-31214524	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Substitution - Missense
c.2530C>T; p.L844F; 17:31229145-31229145	skin	malignant_melanoma	Substitution - Missense
c.1466A>G; p.Y489C; 17:31214524-31214524	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.1466A>G; p.Y489C; 17:31214524-31214524	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.7010T>G; p.L2337R; 17:31340593-31340593	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Substitution - Missense
c.2530C>T; p.L844F; 17:31229145-31229145	skin	malignant_melanoma	Substitution - Missense
c.1528-14_1546del33; p.?; 17:31218991-31219023	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.5440_5458del19; p.H1814fs*43; 17:31327670-31327688	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.2741G>T; p.R914L; 17:31229356-31229356	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6667T>C; p.C2223R; 17:31337843-31337843	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.3317A>G; p.Y1106C; 17:31232702-31232702	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.730+1G>T; p.?; 17:31181786-31181786	thyroid	carcinoma	Unknown
c.8203C>A; p.L2735I; 17:31360529-31360529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7063-2A>G; p.?; 17:31343007-31343007	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.204+1G>A; p.?; 17:31156127-31156127	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3407G>A; p.R1136Q; 17:31232792-31232792	liver	carcinoma	Substitution - Missense
c.3714A>G; p.E1238E; 17:31235616-31235616	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.7451C>T; p.S2484F; 17:31350312-31350312	skin	malignant_melanoma	Substitution - Missense
c.204+1G>A; p.?; 17:31156127-31156127	soft_tissue; blood_vessel	glomus_tumour	Unknown
c.7189+2T>A; p.?; 17:31343137-31343137	central_nervous_system; brain	glioma	Unknown
c.7191_7191delG; p.Y2398fs*20; 17:31349121-31349121	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5626C>A; p.L1876I; 17:31330312-31330312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3407G>A; p.R1136Q; 17:31232792-31232792	liver	carcinoma	Substitution - Missense
c.5626C>A; p.L1876I; 17:31330312-31330312	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2504A>G; p.Q835R; 17:31229119-31229119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6216T>C; p.H2072H; 17:31336703-31336703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1177C>G; p.H393D; 17:31201151-31201151	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.311T>C; p.L104S; 17:31163208-31163208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8109_8110GC>TT; p.Q2704*; 17:31358618-31358619	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Substitution - Nonsense
c.1885G>A; p.Q616fs*4; 17:31225134-31225134	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5665G>C; p.E1889Q; 17:31330351-31330351	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1885G>A; p.Q616fs*4; 17:31225134-31225134	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.1885G>A; p.Q616fs*4; 17:31225134-31225134	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.1885G>A; p.Q616fs*4; 17:31225134-31225134	oesophagus	carcinoma	Deletion - Frameshift
c.5268+1G>A; p.?; 17:31326253-31326253	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.4333-1G>A; p.?; 17:31259031-31259031	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.7444G>A; p.D2482N; 17:31350305-31350305	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4022A>G; p.Q1341R; 17:31249031-31249031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.654+2T>C; p.?; 17:31181491-31181491	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.4022A>C; p.Q1341P; 17:31249031-31249031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6345delG; p.L2116fs*34; 17:31336832-31336832	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.4408_4408delA; p.S1470fs*13; 17:31259107-31259107	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.7962_7963insT; p.P2655fs*5; 17:31357361-31357362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm	Insertion - Frameshift
c.7580G>T; p.G2527V; 17:31352379-31352379	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7798G>C; p.E2600Q; 17:31357019-31357019	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6065G>T; p.G2022V; 17:31336391-31336391	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2352G>C; p.W784C; 17:31227549-31227549	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.3126A>G; p.V1042V; 17:31230854-31230854	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.6450A>G; p.R2150R; 17:31337390-31337390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7689C>T; p.I2563I; 17:31356533-31356533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6450A>G; p.R2150R; 17:31337390-31337390	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3325T>C; p.L1109L; 17:31232710-31232710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2093C>T; p.P698L; 17:31226526-31226526	skin	malignant_melanoma	Substitution - Missense
c.648_649ins73; p.E217fs*8; 17:31181483-31181484	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.6450A>G; p.R2150R; 17:31337390-31337390	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642-2A>G; p.?; 17:31221848-31221848	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.6450A>G; p.R2150R; 17:31337390-31337390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1884C>A; p.Y628*; 17:31225133-31225133	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Nonsense
c.543G>T; p.Q181H; 17:31169954-31169954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5837delT; p.L1946fs*4; 17:31334862-31334862	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4006C>T; p.Q1336*; 17:31249015-31249015	soft_tissue; fat	liposarcoma; pleomorphic	Substitution - Nonsense
c.5123_5123delT; p.F1708fs*2; 17:31326107-31326107	adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.730+2T>C; p.?; 17:31181787-31181787	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4942A>T; p.T1648S; 17:31325926-31325926	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6074C>T; p.S2025L; 17:31336400-31336400	skin	malignant_melanoma	Substitution - Missense
c.5367A>G; p.E1789E; 17:31327597-31327597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2851-2A>T; p.?; 17:31229833-31229833	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.6094G>A; p.A2032T; 17:31336420-31336420	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.2326-1G>A; p.?; 17:31227522-31227522	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.6278C>T; p.S2093F; 17:31336765-31336765	skin	malignant_melanoma	Substitution - Missense
c.7019delA; p.N2341fs*5; 17:31340602-31340602	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6854A>G; p.Y2285C; 17:31338738-31338738	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2765G>T; p.G922V; 17:31229380-31229380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4339C>A; p.Q1447K; 17:31259038-31259038	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7765C>T; p.Q2589*; 17:31356986-31356986	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4339C>A; p.Q1447K; 17:31259038-31259038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.34G>A; p.A12T; 17:31095343-31095343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6854A>G; p.Y2285C; 17:31338738-31338738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481T>C; p.L161L; 17:31169892-31169892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6019C>T; p.L2007F; 17:31336345-31336345	skin; hip	malignant_melanoma	Substitution - Missense
c.8435G>A; p.R2812Q; 17:31374070-31374070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5951A>G; p.N1984S; 17:31334976-31334976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5951A>G; p.N1984S; 17:31334976-31334976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5538G>A; p.R1846R; 17:31327768-31327768	breast	carcinoma	Substitution - coding silent
c.3745_3764del20; p.S1249fs*8; 17:31235647-31235666	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1277G>A; p.W426*; 17:31206256-31206256	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7417A>G; p.M2473V; 17:31350278-31350278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.681T>C; p.Y227Y; 17:31181736-31181736	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3870+2T>A; p.?; 17:31235774-31235774	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.4792delA; p.T1598fs*26; 17:31265296-31265296	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1154G>C; p.R385P; 17:31201128-31201128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.7317A>T; p.L2439F; 17:31349247-31349247	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5680G>C; p.E1894Q; 17:31330366-31330366	breast	carcinoma	Substitution - Missense
c.5545G>A; p.D1849N; 17:31327775-31327775	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6926delC; p.S2309fs*10; 17:31340509-31340509	central_nervous_system; thalamus	glioma; astrocytoma_Grade_II	Deletion - Frameshift
c.3268G>A; p.G1090R; 17:31232143-31232143	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8323A>G; p.N2775D; 17:31360649-31360649	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>T; p.R192*; 17:31169985-31169985	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4600C>T; p.R1534*; 17:31261733-31261733	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.574C>T; p.R192*; 17:31169985-31169985	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1260+1G>TGGGC; p.?; 17:31201486-31201486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.4600C>T; p.R1534*; 17:31261733-31261733	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4578-2A>T; p.?; 17:31261709-31261709	large_intestine	carcinoma; adenocarcinoma	Unknown
c.4600C>T; p.R1534*; 17:31261733-31261733	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4600C>T; p.R1534*; 17:31261733-31261733	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.4600C>T; p.R1534*; 17:31261733-31261733	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4600C>T; p.R1534*; 17:31261733-31261733	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.4600C>T; p.R1534*; 17:31261733-31261733	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Nonsense
c.3773G>T; p.W1258L; 17:31235675-31235675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2833T>C; p.F945L; 17:31229448-31229448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3719C>G; p.A1240G; 17:31235621-31235621	central_nervous_system; brain	glioma	Substitution - Missense
c.4600C>T; p.R1534*; 17:31261733-31261733	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Nonsense
c.1732_1733insT; p.Y580fs*8; 17:31223454-31223455	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.574C>T; p.R192*; 17:31169985-31169985	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.574C>T; p.R192*; 17:31169985-31169985	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4558C>T; p.Q1520*; 17:31260496-31260496	adrenal_gland; adrenal_gland	pheochromocytoma; malignant	Substitution - Nonsense
c.4760T>C; p.L1587S; 17:31265264-31265264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.740delA; p.K248fs*33; 17:31182517-31182517	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1413_1440del28; p.K471fs*18; 17:31214471-31214498	adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.574C>T; p.R192*; 17:31169985-31169985	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.4558C>T; p.Q1520*; 17:31260496-31260496	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1939C>T; p.H647Y; 17:31225188-31225188	skin	malignant_melanoma	Substitution - Missense
c.574C>T; p.R192*; 17:31169985-31169985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4600C>T; p.R1534*; 17:31261733-31261733	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.3638_3700>A; p.T1213fs*5; 17:31233143-31233205	adrenal_gland	pheochromocytoma	Complex - frameshift
c.6704+1G>A; p.?; 17:31337881-31337881	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2134C>T; p.H712Y; 17:31226567-31226567	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4333_4337delATACT; p.I1445fs*20; 17:31259032-31259036	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3375G>A; p.A1125A; 17:31232760-31232760	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185+1G>A; p.?; 17:31201160-31201160	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.288+1G>C; p.?; 17:31159094-31159094	soft_tissue; nerve_sheath	neurofibroma; plexiform	Unknown
c.3228A>G; p.V1076V; 17:31232103-31232103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1185+1G>A; p.?; 17:31201160-31201160	ovary	carcinoma; serous_carcinoma	Unknown
c.3144G>A; p.W1048*; 17:31230872-31230872	breast	carcinoma	Substitution - Nonsense
c.221C>A; p.A74D; 17:31159026-31159026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6472_6473delTT; p.L2158fs*10; 17:31337412-31337413	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.8382C>T; p.I2794I; 17:31374017-31374017	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1186-1G>C; p.?; 17:31201410-31201410	pancreas	carcinoma	Unknown
c.221C>A; p.A74D; 17:31159026-31159026	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>A; p.A74D; 17:31159026-31159026	large_intestine; colon	carcinoma	Substitution - Missense
c.6070G>T; p.G2024*; 17:31336396-31336396	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4431-25_4434del29; p.?; 17:31260344-31260372	ovary	carcinoma; serous_carcinoma	Unknown
c.3721C>T; p.R1241*; 17:31235623-31235623	skin	malignant_melanoma	Substitution - Nonsense
c.3721C>T; p.R1241*; 17:31235623-31235623	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.3721C>T; p.R1241*; 17:31235623-31235623	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.3406C>T; p.R1136W; 17:31232791-31232791	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6466T>C; p.F2156L; 17:31337406-31337406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.655G>T; p.A219S; 17:31181710-31181710	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.586G>T; p.E196*; 17:31169997-31169997	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.1186-1G>A; p.?; 17:31201410-31201410	skin; scalp	carcinoma; squamous_cell_carcinoma	Unknown
c.6148_6148delG; p.V2050fs*8; 17:31336635-31336635	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.7791A>G; p.S2597S; 17:31357012-31357012	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3721C>T; p.R1241*; 17:31235623-31235623	skin	malignant_melanoma	Substitution - Nonsense
c.3721C>T; p.R1241*; 17:31235623-31235623	adrenal_gland; adrenal_gland	pheochromocytoma; malignant	Substitution - Nonsense
c.217G>T; p.E73*; 17:31159022-31159022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4054A>G; p.S1352G; 17:31249063-31249063	breast	carcinoma	Substitution - Missense
c.7791A>G; p.S2597S; 17:31357012-31357012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3406C>T; p.R1136W; 17:31232791-31232791	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7634A>G; p.D2545G; 17:31356478-31356478	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7458-3C>T; p.?; 17:31352254-31352254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1301_1302insTCAC; p.V437fs*3; 17:31206280-31206281	soft_tissue; blood_vessel	angiosarcoma	Insertion - Frameshift
c.2767C>G; p.L923V; 17:31229382-31229382	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246C>T; p.R416*; 17:31201471-31201471	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.655-1G>T; p.?; 17:31181709-31181709	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.655-1G>T; p.?; 17:31181709-31181709	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.1246C>T; p.R416*; 17:31201471-31201471	skin	malignant_melanoma	Substitution - Nonsense
c.3163C>T; p.Q1055*; 17:31230891-31230891	skin	malignant_melanoma	Substitution - Nonsense
c.2483_2484insCAGCC; p.L828fs*15; 17:31229098-31229099	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.4958G>T; p.R1653L; 17:31325942-31325942	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4560G>A; p.Q1520Q; 17:31260498-31260498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1246C>T; p.R416*; 17:31201471-31201471	large_intestine; rectum	NS	Substitution - Nonsense
c.1246C>T; p.R416*; 17:31201471-31201471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3975_3975delG; p.R1325fs*2; 17:31248984-31248984	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5557A>G; p.T1853A; 17:31327787-31327787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400C>T; p.T467I; 17:31214458-31214458	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.839T>C; p.I280T; 17:31182616-31182616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7431C>A; p.P2477P; 17:31350292-31350292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1400C>T; p.T467I; 17:31214458-31214458	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.1400C>T; p.T467I; 17:31214458-31214458	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.731_732delAA; p.E244fs*7; 17:31182508-31182509	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.7003A>G; p.T2335A; 17:31340586-31340586	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.236T>A; p.L79*; 17:31159041-31159041	skin; ear	malignant_melanoma	Substitution - Nonsense
c.7431C>A; p.P2477P; 17:31350292-31350292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2990G>T; p.R997M; 17:31229974-31229974	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3667A>G; p.I1223V; 17:31233172-31233172	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7029T>C; p.H2343H; 17:31340612-31340612	kidney	other; neoplasm	Substitution - coding silent
c.2409+1G>A; p.A776_Q803del; 17:31227607-31227607	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - In frame
c.2990G>T; p.R997M; 17:31229974-31229974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2990G>T; p.R997M; 17:31229974-31229974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7429C>T; p.P2477S; 17:31350290-31350290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5401T>G; p.L1801V; 17:31327631-31327631	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.8466G>C; p.Q2822H; 17:31374101-31374101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7370_7371delAT; p.H2457fs*8; 17:31350231-31350232	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - Frameshift
c.1549G>T; p.E517*; 17:31219026-31219026	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5276C>T; p.S1759F; 17:31327506-31327506	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6317T>C; p.V2106A; 17:31336804-31336804	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.7429C>T; p.P2477S; 17:31350290-31350290	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.889A>T; p.K297*; 17:31200422-31200422	liver	carcinoma	Substitution - Nonsense
c.4393A>T; p.N1465Y; 17:31259092-31259092	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.889A>T; p.K297*; 17:31200422-31200422	liver	carcinoma	Substitution - Nonsense
c.3189T>A; p.C1063*; 17:31230917-31230917	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.2990G>T; p.R997M; 17:31229974-31229974	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3559C>A; p.L1187I; 17:31233064-31233064	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7429C>T; p.P2477S; 17:31350290-31350290	large_intestine; colon	carcinoma	Substitution - Missense
c.1555C>T; p.Q519*; 17:31219032-31219032	skin	malignant_melanoma	Substitution - Nonsense
c.7458G>A; p.?; 17:31352256-31352257	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.1722-1G>A; p.?; 17:31223443-31223443	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Unknown
c.586+3_586+85del83; p.?; 17:31170000-31170082	soft_tissue; nerve_sheath	neurofibroma; plexiform	Unknown
c.3457_3460delCTCA; p.L1153fs*4; 17:31232842-31232845	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5188A>C; p.T1730P; 17:31326172-31326172	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5311A>T; p.K1771*; 17:31327541-31327541	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.7069G>T; p.E2357*; 17:31343015-31343015	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7139T>G; p.L2380R; 17:31343085-31343085	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1417_1417delA; p.T473fs*25; 17:31214475-31214475	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4392C>G; p.F1464L; 17:31259091-31259091	skin	malignant_melanoma	Substitution - Missense
c.7246C>G; p.L2416V; 17:31349176-31349176	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5643T>G; p.T1881T; 17:31330329-31330329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.951_952delAG; p.E318fs*11; 17:31200484-31200485	breast	carcinoma	Deletion - Frameshift
c.1444A>G; p.T482A; 17:31214502-31214502	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1774A>G; p.S592G; 17:31223496-31223496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2088G>A; p.W696*; 17:31226521-31226521	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.6428-2A>G; p.?; 17:31337366-31337366	skin	malignant_melanoma	Unknown
c.3198-1G>C; p.?; 17:31232072-31232072	lung	carcinoma; adenocarcinoma	Unknown
c.7851G>T; p.A2617A; 17:31357072-31357072	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2987_2988insAC; p.R997fs*16; 17:31229971-31229972	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.2902A>C; p.M968L; 17:31229886-31229886	pleura	pulmonary_blastoma	Substitution - Missense
c.2633T>C; p.I878T; 17:31229248-31229248	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8000delC; p.L2668fs*11; 17:31358509-31358509	skin; hand	malignant_melanoma	Deletion - Frameshift
c.3933_3934delCT; p.S1312fs*1; 17:31235980-31235981	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.5523A>G; p.Q1841Q; 17:31327753-31327753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3197+10G>A; p.?; 17:31230935-31230935	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.1178A>T; p.H393L; 17:31201152-31201152	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.4998T>C; p.F1666F; 17:31325982-31325982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3298T>G; p.S1100A; 17:31232173-31232173	ovary	other; neoplasm	Substitution - Missense
c.7739-1G>A; p.?; 17:31356959-31356959	skin	malignant_melanoma	Unknown
c.3491_3491delC; p.I1165fs*1; 17:31232876-31232876	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4851A>C; p.Q1617H; 17:31325835-31325835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8261C>T; p.S2754F; 17:31360587-31360587	skin	malignant_melanoma	Substitution - Missense
c.6691G>T; p.E2231*; 17:31337867-31337867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1933A>G; p.M645V; 17:31225182-31225182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.751G>C; p.D251H; 17:31182528-31182528	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7549C>T; p.R2517*; 17:31352348-31352348	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.7388T>G; p.L2463R; 17:31350249-31350249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6691G>T; p.E2231*; 17:31337867-31337867	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.751G>C; p.D251H; 17:31182528-31182528	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1556A>G; p.Q519R; 17:31219033-31219033	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8261C>T; p.S2754F; 17:31360587-31360587	skin	malignant_melanoma	Substitution - Missense
c.6850_6853delACTT; p.Y2285fs*5; 17:31338734-31338737	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.6850_6853delACTT; p.Y2285fs*5; 17:31338734-31338737	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1009G>T; p.E337*; 17:31200542-31200542	liver	carcinoma	Substitution - Nonsense
c.751G>C; p.D251H; 17:31182528-31182528	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1933A>G; p.M645V; 17:31225182-31225182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1933A>G; p.M645V; 17:31225182-31225182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1933A>G; p.M645V; 17:31225182-31225182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1009G>T; p.E337*; 17:31200542-31200542	liver	carcinoma	Substitution - Nonsense
c.2806A>T; p.K936*; 17:31229421-31229421	adrenal_gland	pheochromocytoma	Substitution - Nonsense
c.7549C>T; p.R2517*; 17:31352348-31352348	skin	malignant_melanoma	Substitution - Nonsense
c.5687C>T; p.S1896L; 17:31330373-31330373	breast	carcinoma	Substitution - Missense
c.8261C>T; p.S2754F; 17:31360587-31360587	skin	malignant_melanoma	Substitution - Missense
c.1556A>G; p.Q519R; 17:31219033-31219033	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3303_3314+7del19; p.?; 17:31232178-31232189	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.2234_2235insAGGG; p.S745fs*24; 17:31226667-31226668	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.5845_5863del19; p.M1949fs*2; 17:31334870-31334888	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1933A>G; p.M645V; 17:31225182-31225182	genital_tract; extragonadal	germ_cell_tumour; teratoma	Substitution - Missense
c.2382T>A; p.Y794*; 17:31227579-31227579	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4206C>T; p.I1402I; 17:31258376-31258376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2445_2445delG; p.R815fs*6; 17:31229060-31229060	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.8057_8058delAG; p.S2687fs*5; 17:31358566-31358567	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.5089_5095delCTGACTG; p.L1697fs*11; 17:31326073-31326079	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4330A>C; p.K1444Q; 17:31258500-31258500	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2147A>T; p.E716V; 17:31226580-31226580	breast	carcinoma	Substitution - Missense
c.1700T>G; p.V567G; 17:31221908-31221908	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.1700T>G; p.V567G; 17:31221908-31221908	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.1700T>G; p.V567G; 17:31221908-31221908	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.4206C>T; p.I1402I; 17:31258376-31258376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4945G>A; p.G1649R; 17:31325929-31325929	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1472A>G; p.Y491C; 17:31214530-31214530	oesophagus	carcinoma	Substitution - Missense
c.3774G>A; p.W1258*; 17:31235676-31235676	skin	malignant_melanoma	Substitution - Nonsense
c.3826C>T; p.R1276*; 17:31235728-31235728	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.158T>A; p.L53*; 17:31156080-31156080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3826C>T; p.R1276*; 17:31235728-31235728	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.3113+1G>C; p.?; 17:31230383-31230383	soft_tissue; blood_vessel	glomus_tumour	Unknown
c.4084C>G; p.R1362G; 17:31249093-31249093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.6691G>C; p.E2231Q; 17:31337867-31337867	pleura	pulmonary_blastoma	Substitution - Missense
c.3826C>T; p.R1276*; 17:31235728-31235728	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4177_4178delGT; p.V1393fs*1; 17:31258347-31258348	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.3826C>T; p.R1276*; 17:31235728-31235728	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Nonsense
c.3774G>A; p.W1258*; 17:31235676-31235676	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.226_227insG; p.E76fs*31; 17:31159031-31159032	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.6469T>C; p.S2157P; 17:31337409-31337409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2088delG; p.W696fs*1; 17:31226521-31226521	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4818delT; p.Y1607fs*17; 17:31265322-31265322	soft_tissue; striated_muscle	rhabdomyosarcoma	Deletion - Frameshift
c.2409+1G>A; p.?; 17:31227607-31227607	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.702G>A; p.L234L; 17:31181757-31181757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2088delG; p.W696fs*1; 17:31226521-31226521	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.2461A>C; p.S821R; 17:31229076-31229076	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.2461A>C; p.S821R; 17:31229076-31229076	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.4818delT; p.Y1607fs*17; 17:31265322-31265322	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1865G>T; p.C622F; 17:31225114-31225114	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5084G>A; p.R1695Q; 17:31326068-31326068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3124_3127GTAG>AT; p.V1042fs*17; 17:31230852-31230855	soft_tissue; nerve_sheath	neurofibroma	Complex - frameshift
c.5960A>G; p.Q1987R; 17:31334985-31334985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5831_5834delTTTG; p.C1945fs*4; 17:31334856-31334859	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.8470C>T; p.Q2824*; 17:31374105-31374105	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2896G>A; p.A966T; 17:31229880-31229880	pancreas	carcinoma	Substitution - Missense
c.2614G>A; p.E872K; 17:31229229-31229229	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3232_3232delT; p.S1078fs*3; 17:31232107-31232107	adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.2896G>A; p.A966T; 17:31229880-31229880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.7085C>T; p.A2362V; 17:31343031-31343031	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4030G>T; p.E1344*; 17:31249039-31249039	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2850G>A; p.Q950Q; 17:31229465-31229465	skin	malignant_melanoma	Substitution - coding silent
c.1170_1170delC; p.N390fs*22; 17:31201144-31201144	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4722_4724+1delTAGG; p.?; 17:31261855-31261858	breast	carcinoma	Unknown
c.2251G>T; p.G751*; 17:31226684-31226684	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2848C>T; p.Q950*; 17:31229463-31229463	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.7300_7316del17; p.Q2434fs*8; 17:31349230-31349246	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.3340T>A; p.L1114M; 17:31232725-31232725	skin	malignant_melanoma	Substitution - Missense
c.4061C>T; p.S1354F; 17:31249070-31249070	skin; back	malignant_melanoma	Substitution - Missense
c.4489_4493delTCCTT; p.S1497fs*3; 17:31260427-31260431	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.3419C>A; p.S1140*; 17:31232804-31232804	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.169G>A; p.G57S; 17:31156091-31156091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5743C>T; p.L1915L; 17:31330429-31330429	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3975-1G>A; p.?; 17:31248983-31248983	central_nervous_system; brain	glioma	Unknown
c.3419C>A; p.S1140*; 17:31232804-31232804	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.6101C>T; p.T2034I; 17:31336427-31336427	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4875C>A; p.Y1625*; 17:31325859-31325859	skin	malignant_melanoma	Substitution - Nonsense
c.1246C>A; p.R416R; 17:31201471-31201471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4938C>T; p.T1646T; 17:31325922-31325922	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3521delA; p.Q1174fs*10; 17:31233026-31233026	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.205-1G>A; p.?; 17:31159009-31159009	skin	malignant_melanoma	Unknown
c.7790C>A; p.S2597*; 17:31357011-31357011	soft_tissue; blood_vessel	glomus_tumour	Substitution - Nonsense
c.7796C>T; p.S2599F; 17:31357017-31357017	skin	malignant_melanoma	Substitution - Missense
c.6818A>C; p.K2273T; 17:31338138-31338138	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4548G>A; p.E1516E; 17:31260486-31260486	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3376C>T; p.Q1126*; 17:31232761-31232761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1947A>G; p.E649E; 17:31225196-31225196	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2889A>C; p.Q963H; 17:31229873-31229873	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6818A>C; p.K2273T; 17:31338138-31338138	stomach	adenocarcinoma	Substitution - Missense
c.1577T>G; p.I526S; 17:31219054-31219054	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6796C>T; p.Q2266*; 17:31338116-31338116	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.4766C>T; p.T1589M; 17:31265270-31265270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1797G>A; p.W599*; 17:31223519-31223519	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7645T>C; p.S2549P; 17:31356489-31356489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8044C>T; p.H2682Y; 17:31358553-31358553	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7304G>A; p.S2435N; 17:31349234-31349234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.7645T>C; p.S2549P; 17:31356489-31356489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1721+7G>A; p.?; 17:31221936-31221936	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2443_2444insGG; p.R816fs*6; 17:31229058-31229059	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.5177T>G; p.L1726R; 17:31326161-31326161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6819+3A>G; p.?; 17:31338142-31338142	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3772T>C; p.W1258R; 17:31235674-31235674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7456_7456delA; p.R2486fs*3; 17:31350317-31350317	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.5961G>T; p.Q1987H; 17:31334986-31334986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8223G>A; p.T2741T; 17:31360549-31360549	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2786T>C; p.L929P; 17:31229401-31229401	skin	malignant_melanoma	Substitution - Missense
c.5455G>A; p.A1819T; 17:31327685-31327685	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3039G>A; p.T1013T; 17:31230308-31230308	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3039G>A; p.T1013T; 17:31230308-31230308	skin	malignant_melanoma	Substitution - coding silent
c.3039G>A; p.T1013T; 17:31230308-31230308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2556C>T; p.L852L; 17:31229171-31229171	breast	carcinoma	Substitution - coding silent
c.3039G>A; p.T1013T; 17:31230308-31230308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.467G>A; p.R156H; 17:31163364-31163364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3772T>C; p.W1258R; 17:31235674-31235674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3772T>C; p.W1258R; 17:31235674-31235674	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6473T>G; p.L2158*; 17:31337413-31337413	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1318_1319CG>TA; p.R440>?; 17:31206297-31206298	large_intestine; rectum	carcinoma; adenocarcinoma	Complex
c.7780C>T; p.R2594C; 17:31357001-31357001	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3039G>A; p.T1013T; 17:31230308-31230308	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3311T>G; p.L1104R; 17:31232186-31232186	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7989_7990insT; p.K2664fs*1; 17:31358498-31358499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm	Insertion - Frameshift
c.4803_4804insG; p.N1603fs*19; 17:31265307-31265308	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.8223G>A; p.T2741T; 17:31360549-31360549	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4022A>T; p.Q1341L; 17:31249031-31249031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1641+1G>T; p.?; 17:31219119-31219119	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.7079T>G; p.F2360C; 17:31343025-31343025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5014G>A; p.D1672N; 17:31325998-31325998	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5375_5376ins49; p.L1793fs*5; 17:31327605-31327606	adrenal_gland	pheochromocytoma	Insertion - Frameshift
c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Deletion - Frameshift
c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739	central_nervous_system; cerebellum	glioma; astrocytoma_Grade_I	Deletion - Frameshift
c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.7452C>A; p.S2484S; 17:31350313-31350313	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3047_3048delGT; p.C1016fs*4; 17:31230316-31230317	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.8036A>G; p.N2679S; 17:31358545-31358545	breast	carcinoma	Substitution - Missense
c.3806_3807insC; p.S1270fs*14; 17:31235708-31235709	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.7802C>G; p.S2601*; 17:31357023-31357023	breast	carcinoma	Substitution - Nonsense
c.943C>T; p.Q315*; 17:31200476-31200476	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6006G>A; p.Q2002Q; 17:31335031-31335031	ovary	other; neoplasm	Substitution - coding silent
c.4459C>T; p.P1487S; 17:31260397-31260397	skin	malignant_melanoma	Substitution - Missense
c.2742G>A; p.R914R; 17:31229357-31229357	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3306_3307insA; p.F1103fs*3; 17:31232181-31232182	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.4638G>C; p.L1546L; 17:31261771-31261771	ovary	other; neoplasm	Substitution - coding silent
c.3065T>C; p.M1022T; 17:31230334-31230334	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1007_1008GG>AA; p.W336*; 17:31200540-31200541	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4237T>G; p.F1413V; 17:31258407-31258407	liver	carcinoma	Substitution - Missense
c.5880C>A; p.C1960*; 17:31334905-31334905	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.1381C>A; p.R461R; 17:31206360-31206360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.62T>G; p.L21R; 17:31155984-31155984	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Missense
c.7190-3T>G; p.?; 17:31349117-31349117	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.5306G>A; p.R1769Q; 17:31327536-31327536	liver	carcinoma	Substitution - Missense
c.288G>A; p.G96G; 17:31159093-31159093	skin	malignant_melanoma	Substitution - coding silent
c.6643-8delT; p.?; 17:31337811-31337811	stomach	adenocarcinoma	Unknown
c.4700C>G; p.S1567*; 17:31261833-31261833	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.3474_3486del13; p.S1159fs*3; 17:31232859-31232871	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1382_1383insCCCC; p.M462fs*9; 17:31206361-31206362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.1007G>T; p.W336L; 17:31200540-31200540	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7971-1G>T; p.?; 17:31358479-31358479	breast	carcinoma	Unknown
c.3560T>C; p.L1187P; 17:31233065-31233065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1649T>C; p.L550P; 17:31221857-31221857	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3560T>C; p.L1187P; 17:31233065-31233065	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1649T>C; p.L550P; 17:31221857-31221857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1180_1181delTT; p.F394fs*1; 17:31201154-31201155	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.2702_2703insGTCG; p.M902fs*5; 17:31229317-31229318	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1339C>T; p.L447F; 17:31206318-31206318	urinary_tract; bladder	carcinoma	Substitution - Missense
c.392_408del17; p.A131fs*19; 17:31163289-31163305	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.1062+1G>A; p.?; 17:31200596-31200596	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.5365G>A; p.E1789K; 17:31327595-31327595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1062+1G>A; p.?; 17:31200596-31200596	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.6550G>A; p.D2184N; 17:31337490-31337490	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5768C>T; p.T1923M; 17:31330454-31330454	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1032A>G; p.L344L; 17:31200565-31200565	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1811T>A; p.L604*; 17:31223533-31223533	skin	malignant_melanoma	Substitution - Nonsense
c.1062+1G>A; p.?; 17:31200596-31200596	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.2693T>G; p.L898R; 17:31229308-31229308	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.4330A>G; p.K1444E; 17:31258500-31258500	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.527_529delATA; p.D176_I177>V; 17:31169938-31169940	breast	carcinoma	Complex - deletion inframe
c.4330A>G; p.K1444E; 17:31258500-31258500	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5454A>G; p.E1818E; 17:31327684-31327684	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7850C>T; p.A2617V; 17:31357071-31357071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7850C>T; p.A2617V; 17:31357071-31357071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7850C>T; p.A2617V; 17:31357071-31357071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.466_467delCG; p.R156fs*17; 17:31163363-31163364	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.4330A>G; p.K1444E; 17:31258500-31258500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7850C>T; p.A2617V; 17:31357071-31357071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4612A>T; p.K1538*; 17:31261745-31261745	central_nervous_system; thalamus	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.8511G>T; p.K2837N; 17:31374146-31374146	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7906_7918del13; p.Q2636fs*4; 17:31357305-31357317	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.7430C>A; p.P2477H; 17:31350291-31350291	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7013T>A; p.L2338H; 17:31340596-31340596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.(3114-50)delTG; p.?; 17:31230792-31230793	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1884C>T; p.Y628Y; 17:31225133-31225133	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5201A>T; p.E1734V; 17:31326185-31326185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8405C>T; p.S2802F; 17:31374040-31374040	skin; face	malignant_melanoma	Substitution - Missense
c.5792_5792delT; p.S1932fs*10; 17:31330478-31330478	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.2375T>A; p.L792H; 17:31227572-31227572	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3737_3740delTGTT; p.F1247fs*18; 17:31235639-31235642	breast	carcinoma	Deletion - Frameshift
c.1381_1382insTT; p.R461fs*13; 17:31206360-31206361	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4266T>G; p.Y1422*; 17:31258436-31258436	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.7970+1G>T; p.?; 17:31357370-31357370	pancreas	carcinoma	Unknown
c.2135A>G; p.H712R; 17:31226568-31226568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3870+1G>T; p.?; 17:31235773-31235773	lung	carcinoma; adenocarcinoma	Unknown
c.5851delC; p.P1951fs*6; 17:31334876-31334876	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.7008A>G; p.A2336A; 17:31340591-31340591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8132_8133insT; p.L2711fs*19; 17:31358987-31358988	central_nervous_system; brain	glioma	Insertion - Frameshift
c.3280_3283delGAAT; p.E1094fs*1; 17:31232155-31232158	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942G>A; p.W1314*; 17:31235989-31235989	central_nervous_system; brain	glioma	Substitution - Nonsense
c.6471A>G; p.S2157S; 17:31337411-31337411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5490C>A; p.R1830R; 17:31327720-31327720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1866T>A; p.C622*; 17:31225115-31225115	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1179_1180delCT; p.F394fs*1; 17:31201153-31201154	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1481T>A; p.L494*; 17:31214539-31214539	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1866T>A; p.C622*; 17:31225115-31225115	skin; breast	malignant_melanoma	Substitution - Nonsense
c.1528_1641del114; p.N510_E547del; 17:31219005-31219118	soft_tissue; nerve_sheath	neurofibroma; plexiform	Deletion - In frame
c.3497-5A>G; p.?; 17:31232997-31232997	liver	carcinoma	Unknown
c.5489G>A; p.R1830H; 17:31327719-31327719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1570G>C; p.E524Q; 17:31219047-31219047	breast	carcinoma	Substitution - Missense
c.2325+2_2325+3insG; p.?; 17:31227293-31227294	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.3497-5A>G; p.?; 17:31232997-31232997	liver	carcinoma	Unknown
c.534_535delAT; p.E178fs*22; 17:31169945-31169946	breast	carcinoma	Deletion - Frameshift
c.4936A>T; p.T1646S; 17:31325920-31325920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7790C>T; p.S2597L; 17:31357011-31357011	soft_tissue; fibrous_tissue_and_uncertain_o	fibrosarcoma; myxofibrosarcoma	Substitution - Missense
c.4937C>T; p.T1646I; 17:31325921-31325921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.859G>A; p.D287N; 17:31182636-31182636	pancreas	carcinoma	Substitution - Missense
c.1182T>C; p.F394F; 17:31201156-31201156	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4048A>G; p.I1350V; 17:31249057-31249057	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1247G>A; p.R416Q; 17:31201472-31201472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5190C>A; p.T1730T; 17:31326174-31326174	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.273A>G; p.E91E; 17:31159078-31159078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4703A>G; p.K1568R; 17:31261836-31261836	thyroid	carcinoma	Substitution - Missense
c.7159_7164delAACTTT; p.N2387_F2388del; 17:31343105-31343110	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - In frame
c.6746_6748delTTG; p.V2250del; 17:31338066-31338068	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.821T>G; p.L274R; 17:31182598-31182598	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.4986G>A; p.W1662*; 17:31325970-31325970	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.2850+1G>A; p.?; 17:31229466-31229466	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.5200G>T; p.E1734*; 17:31326184-31326184	breast	carcinoma	Substitution - Nonsense
c.1661A>G; p.Q554R; 17:31221869-31221869	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.L274F; 17:31182597-31182597	skin	malignant_melanoma	Substitution - Missense
c.4535G>T; p.W1512L; 17:31260473-31260473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4451C>T; p.S1484F; 17:31260389-31260389	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.2850+1G>A; p.?; 17:31229466-31229466	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1696C>G; p.P566A; 17:31221904-31221904	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3757_3764delCTCTACCA; p.L1253fs*8; 17:31235659-31235666	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4804G>A; p.G1602R; 17:31265308-31265308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5812+2T>A; p.?; 17:31330500-31330500	lung	carcinoma; adenocarcinoma	Unknown
c.4021C>T; p.Q1341*; 17:31249030-31249030	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.5025C>A; p.S1675S; 17:31326009-31326009	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.8474G>C; p.R2825T; 17:31374109-31374109	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6488T>A; p.L2163*; 17:31337428-31337428	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1724_1727delCACA; p.S575fs*1; 17:31223446-31223449	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.848A>G; p.D283G; 17:31182625-31182625	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1681T>C; p.W561R; 17:31221889-31221889	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.241C>G; p.L81V; 17:31159046-31159046	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5330_5333delTCTT; p.F1778fs*1; 17:31327560-31327563	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.6284_6285insT; p.V2096fs*24; 17:31336771-31336772	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.480_480delG; p.R160fs*5; 17:31169891-31169891	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4526G>A; p.R1509H; 17:31260464-31260464	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3975-2A>T; p.?; 17:31248982-31248982	skin	malignant_melanoma	Unknown
c.3975-2A>T; p.?; 17:31248982-31248982	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.252_270del19; p.I85fs*12; 17:31159057-31159075	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.784C>T; p.R262C; 17:31182561-31182561	skin	malignant_melanoma	Substitution - Missense
c.272A>G; p.E91G; 17:31159077-31159077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4564_4565delCT; p.L1522fs*7; 17:31260502-31260503	soft_tissue; nerve_sheath	neurofibroma; plexiform	Deletion - Frameshift
c.8035A>G; p.N2679D; 17:31358544-31358544	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.272A>G; p.E91G; 17:31159077-31159077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3120G>A; p.K1040K; 17:31230848-31230848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1660C>G; p.Q554E; 17:31221868-31221868	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.8027A>G; p.N2676S; 17:31358536-31358536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1340T>C; p.L447P; 17:31206319-31206319	adrenal_gland	pheochromocytoma	Substitution - Missense
c.7511_7511delT; p.A2505fs*18; 17:31352310-31352310	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5270T>A; p.V1757D; 17:31327500-31327500	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Missense
c.4977_4980delCTCT; p.S1660fs*37; 17:31325961-31325964	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7116G>T; p.K2372N; 17:31343062-31343062	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4030G>A; p.E1344K; 17:31249039-31249039	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7896_7897TG>GT; p.D2632E; 17:31357295-31357296	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7582C>T; p.Q2528*; 17:31352381-31352381	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Substitution - Nonsense
c.1997C>G; p.S666C; 17:31225246-31225246	urinary_tract; bladder	carcinoma	Substitution - Missense
c.575G>A; p.R192Q; 17:31169986-31169986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4030G>A; p.E1344K; 17:31249039-31249039	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5837T>A; p.L1946*; 17:31334862-31334862	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Nonsense
c.3992G>A; p.S1331N; 17:31249001-31249001	pancreas	carcinoma	Substitution - Missense
c.3330delT; p.F1110fs*2; 17:31232715-31232715	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.8087C>A; p.P2696Q; 17:31358596-31358596	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.R135W; 17:31163300-31163300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3125T>A; p.V1042E; 17:31230853-31230853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.403C>T; p.R135W; 17:31163300-31163300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2970_2970delA; p.M991fs*1; 17:31229954-31229954	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.5435T>C; p.F1812S; 17:31327665-31327665	liver	carcinoma	Substitution - Missense
c.7781G>A; p.R2594H; 17:31357002-31357002	pancreas	carcinoma	Substitution - Missense
c.911_911delG; p.R304fs*13; 17:31200444-31200444	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - Frameshift
c.7781G>A; p.R2594H; 17:31357002-31357002	pancreas	carcinoma	Substitution - Missense
c.403C>T; p.R135W; 17:31163300-31163300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8087C>A; p.P2696Q; 17:31358596-31358596	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3576A>C; p.E1192D; 17:31233081-31233081	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.403C>T; p.R135W; 17:31163300-31163300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5104G>T; p.G1702C; 17:31326088-31326088	ovary	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.R135W; 17:31163300-31163300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7781G>A; p.R2594H; 17:31357002-31357002	pancreas	carcinoma	Substitution - Missense
c.3574G>T; p.E1192*; 17:31233079-31233079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.999C>G; p.Y333*; 17:31200532-31200532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.3548T>C; p.L1183P; 17:31233053-31233053	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2187T>A; p.H729Q; 17:31226620-31226620	skin	malignant_melanoma	Substitution - Missense
c.7238_7238delT; p.L2413fs*5; 17:31349168-31349168	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.242T>G; p.L81R; 17:31159047-31159047	liver	carcinoma	Substitution - Missense
c.3478G>T; p.G1160C; 17:31232863-31232863	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3050A>T; p.Q1017L; 17:31230319-31230319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250C>T; p.P1084S; 17:31232125-31232125	skin	malignant_melanoma	Substitution - Missense
c.1448A>G; p.D483G; 17:31214506-31214506	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.3645G>A; p.M1215I; 17:31233150-31233150	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1448A>G; p.D483G; 17:31214506-31214506	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.1448A>G; p.D483G; 17:31214506-31214506	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.7171G>T; p.V2391F; 17:31343117-31343117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7501delG; p.E2501fs*22; 17:31352300-31352300	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.2533_2533delT; p.C845fs*33; 17:31229148-31229148	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.5645G>T; p.C1882F; 17:31330331-31330331	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5645G>A; p.C1882Y; 17:31330331-31330331	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2939_2958del20; p.S980fs*1; 17:31229923-31229942	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.6745C>T; p.L2249F; 17:31338065-31338065	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2032_2033insC; p.I679fs*21; 17:31226465-31226466	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2446C>T; p.R816*; 17:31229061-31229061	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.8514C>T; p.I2838I; 17:31374149-31374149	skin	malignant_melanoma	Substitution - coding silent
c.6519T>G; p.A2173A; 17:31337459-31337459	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8514C>T; p.I2838I; 17:31374149-31374149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2498C>T; p.S833F; 17:31229113-31229113	skin	malignant_melanoma	Substitution - Missense
c.988G>C; p.A330P; 17:31200521-31200521	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2446C>T; p.R816*; 17:31229061-31229061	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Nonsense
c.2446C>T; p.R816*; 17:31229061-31229061	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.2446C>T; p.R816*; 17:31229061-31229061	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.6684_6688delGTGGA; p.Q2228fs*12; 17:31337860-31337864	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.6804C>T; p.I2268I; 17:31338124-31338124	skin	malignant_melanoma	Substitution - coding silent
c.3936_3939delTGAT; p.D1313fs*13; 17:31235983-31235986	skin; acral	malignant_melanoma	Deletion - Frameshift
c.240T>A; p.Y80*; 17:31159045-31159045	skin	malignant_melanoma	Substitution - Nonsense
c.1949T>A; p.L650*; 17:31225198-31225198	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.7190-44_7237del92; p.?; 17:31349076-31349167	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.539T>A; p.L180*; 17:31169950-31169950	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Nonsense
c.2313A>G; p.A771A; 17:31227279-31227279	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1949T>A; p.L650*; 17:31225198-31225198	central_nervous_system; brain	glioma	Substitution - Nonsense
c.3610C>T; p.R1204W; 17:31233115-31233115	skin	malignant_melanoma	Substitution - Missense
c.627G>T; p.Q209H; 17:31181462-31181462	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6819+1G>C; p.?; 17:31338140-31338140	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.7062+6C>A; p.?; 17:31340651-31340651	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.3610C>T; p.R1204W; 17:31233115-31233115	ovary	other; neoplasm	Substitution - Missense
c.627G>T; p.Q209H; 17:31181462-31181462	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4750_4754delTTCAA; p.F1584fs*36; 17:31265254-31265258	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5674T>G; p.L1892V; 17:31330360-31330360	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.222T>C; p.A74A; 17:31159027-31159027	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2843delA; p.G949fs*5; 17:31229458-31229458	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.222T>C; p.A74A; 17:31159027-31159027	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.403delC; p.R135fs*30; 17:31163300-31163300	soft_tissue; blood_vessel	glomus_tumour	Deletion - Frameshift
c.8428A>G; p.S2810G; 17:31374063-31374063	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7789T>C; p.S2597P; 17:31357010-31357010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7789T>C; p.S2597P; 17:31357010-31357010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8428A>G; p.S2810G; 17:31374063-31374063	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.5671C>T; p.Q1891*; 17:31330357-31330357	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.6007-1G>T; p.?; 17:31336332-31336332	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.7789T>C; p.S2597P; 17:31357010-31357010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6640G>T; p.E2214*; 17:31337580-31337580	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.8235A>G; p.G2745G; 17:31360561-31360561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2830_2831insT; p.D946fs*1; 17:31229445-31229446	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.3855G>T; p.M1285I; 17:31235757-31235757	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7867C>T; p.L2623L; 17:31357088-31357088	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4486C>A; p.L1496I; 17:31260424-31260424	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5705C>A; p.A1902D; 17:31330391-31330391	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7762C>T; p.Q2588*; 17:31356983-31356983	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7762C>T; p.Q2588*; 17:31356983-31356983	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7435C>G; p.H2479D; 17:31350296-31350296	liver	carcinoma	Substitution - Missense
c.911G>T; p.R304L; 17:31200444-31200444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7231A>T; p.R2411*; 17:31349161-31349161	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.8235A>T; p.G2745G; 17:31360561-31360561	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7435C>G; p.H2479D; 17:31350296-31350296	liver	carcinoma	Substitution - Missense
c.4984T>C; p.W1662R; 17:31325968-31325968	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7533C>T; p.V2511V; 17:31352332-31352332	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603C>A; p.Q535K; 17:31219080-31219080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3568_3647del80; p.G1190fs*1; 17:31233073-31233152	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.174C>T; p.L58L; 17:31156096-31156096	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3607G>C; p.D1203H; 17:31233112-31233112	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3607G>C; p.D1203H; 17:31233112-31233112	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1270G>A; p.D424N; 17:31206249-31206249	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1642-2A>T; p.?; 17:31221848-31221848	lung	carcinoma; adenocarcinoma	Unknown
c.819C>T; p.L273L; 17:31182596-31182596	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.647T>C; p.L216P; 17:31181482-31181482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3974+2T>C; p.?; 17:31236023-31236023	breast	carcinoma	Unknown
c.18G>C; p.P6P; 17:31095327-31095327	pancreas	carcinoma	Substitution - coding silent
c.4782C>G; p.Y1594*; 17:31265286-31265286	ovary	other; neoplasm	Substitution - Nonsense
c.3871-1G>T; p.?; 17:31235917-31235917	soft_tissue; nerve_sheath	neurofibroma; plexiform	Unknown
c.7100T>A; p.L2367Q; 17:31343046-31343046	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6377T>C; p.V2126A; 17:31336864-31336864	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6377T>C; p.V2126A; 17:31336864-31336864	liver	carcinoma	Substitution - Missense
c.2703A>C; p.L901F; 17:31229318-31229318	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3709-2A>G; p.?; 17:31235609-31235609	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.3709-2A>G; p.?; 17:31235609-31235609	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.6400T>C; p.C2134R; 17:31336887-31336887	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6511A>T; p.K2171*; 17:31337451-31337451	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.6855C>A; p.Y2285*; 17:31338739-31338739	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Nonsense
c.1381C>T; p.R461*; 17:31206360-31206360	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.7213A>G; p.I2405V; 17:31349143-31349143	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3694C>G; p.P1232A; 17:31233199-31233199	skin	malignant_melanoma	Substitution - Missense
c.1641+1G>A; p.?; 17:31219118-31219118	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5852C>T; p.P1951L; 17:31334877-31334877	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1381C>T; p.R461*; 17:31206360-31206360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 17:31206360-31206360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 17:31206360-31206360	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Nonsense
c.1381C>T; p.R461*; 17:31206360-31206360	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4333-1G>T; p.?; 17:31259031-31259031	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5852C>T; p.P1951L; 17:31334877-31334877	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4333-1G>T; p.?; 17:31259031-31259031	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5852C>T; p.P1951L; 17:31334877-31334877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2740C>T; p.R914W; 17:31229355-31229355	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5852C>T; p.P1951L; 17:31334877-31334877	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1381C>T; p.R461*; 17:31206360-31206360	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.5941A>G; p.M1981V; 17:31334966-31334966	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6855C>A; p.Y2285*; 17:31338739-31338739	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 17:31206360-31206360	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6927delG; p.P2310fs*9; 17:31340510-31340510	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.396_403delTGAACTTC; p.L134fs*19; 17:31163293-31163300	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5839G>T; p.E1947*; 17:31334864-31334864	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1713G>A; p.W571*; 17:31221921-31221921	breast	carcinoma	Substitution - Nonsense
c.6280delC; p.D2095fs*16; 17:31336767-31336767	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.1813A>T; p.I605F; 17:31223535-31223535	stomach	carcinoma; adenocarcinoma	Substitution - Missense
p.?; 17:31227188-31227212	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.532_558del27; p.E178_D186del; 17:31169943-31169969	soft_tissue; nerve_sheath	neurofibroma; plexiform	Deletion - In frame
c.2252-31A>T; p.?; 17:31227187-31227187	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2534_2557del24; p.C845_Q853>*; 17:31229149-31229172	soft_tissue; nerve_sheath	neurofibroma	Complex - deletion inframe
c.624G>A; p.A208A; 17:31181459-31181459	pancreas	carcinoma	Substitution - coding silent
c.5410G>A; p.A1804T; 17:31327640-31327640	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.580_580delC; p.L194fs*1; 17:31169991-31169991	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.7349G>A; p.R2450Q; 17:31350210-31350210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4529_4529delT; p.L1510fs*64; 17:31260467-31260467	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.678T>C; p.N226N; 17:31181733-31181733	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6467T>C; p.F2156S; 17:31337407-31337407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6863_6864delAA; p.Q2288fs*18; 17:31338747-31338748	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.4235G>T; p.R1412I; 17:31258405-31258405	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5509G>A; p.D1837N; 17:31327739-31327739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5509G>A; p.D1837N; 17:31327739-31327739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6508G>C; p.V2170L; 17:31337448-31337448	central_nervous_system; brain	glioma	Substitution - Missense
c.748delT; p.F250fs*31; 17:31182525-31182525	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4107C>A; p.Y1369*; 17:31249116-31249116	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2515A>G; p.N839D; 17:31229130-31229130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5608_5609CG>AGAGTTTACG; p.S1871fs*13; 17:31327838-31327839	soft_tissue; blood_vessel	glomus_tumour	Complex - frameshift
c.2032C>A; p.P678T; 17:31226465-31226465	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.7458-1G>T; p.?; 17:31352256-31352256	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2855T>A; p.L952*; 17:31229839-31229839	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.1307C>A; p.S436*; 17:31206286-31206286	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.7415C>A; p.P2472H; 17:31350276-31350276	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5609G>A; p.R1870Q; 17:31327839-31327839	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7415C>A; p.P2472H; 17:31350276-31350276	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5609G>A; p.R1870Q; 17:31327839-31327839	central_nervous_system; brain	glioma	Substitution - Missense
c.4796C>T; p.S1599F; 17:31265300-31265300	skin	malignant_melanoma	Substitution - Missense
c.5609G>A; p.R1870Q; 17:31327839-31327839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7415C>A; p.P2472H; 17:31350276-31350276	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5609G>A; p.R1870Q; 17:31327839-31327839	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7415C>A; p.P2472H; 17:31350276-31350276	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.103A>G; p.S35G; 17:31156025-31156025	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.7682C>T; p.S2561L; 17:31356526-31356526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7415C>A; p.P2472H; 17:31350276-31350276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2233A>G; p.S745G; 17:31226666-31226666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8003T>A; p.L2668Q; 17:31358512-31358512	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2425C>T; p.H809Y; 17:31229040-31229040	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7415C>A; p.P2472H; 17:31350276-31350276	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7123G>C; p.D2375H; 17:31343069-31343069	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.7815G>T; p.L2605F; 17:31357036-31357036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8122T>G; p.F2708V; 17:31358977-31358977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3545T>C; p.V1182A; 17:31233050-31233050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2815delA; p.N939fs*15; 17:31229430-31229430	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4875C>G; p.Y1625*; 17:31325859-31325859	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.1876_1877insT; p.Y628fs*6; 17:31225125-31225126	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5459T>G; p.I1820S; 17:31327689-31327689	liver	carcinoma	Substitution - Missense
c.1954C>T; p.R652C; 17:31225203-31225203	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4806delG; p.N1603fs*21; 17:31265310-31265310	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5551C>T; p.P1851S; 17:31327781-31327781	skin	malignant_melanoma	Substitution - Missense
c.6327C>T; p.F2109F; 17:31336814-31336814	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4663_4663delG; p.A1555fs*19; 17:31261796-31261796	adrenal_gland; adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.3545T>C; p.V1182A; 17:31233050-31233050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2766T>C; p.G922G; 17:31229381-31229381	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1186-2A>G; p.?; 17:31201409-31201409	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.4594G>A; p.G1532R; 17:31261727-31261727	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2448A>G; p.R816R; 17:31229063-31229063	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6541A>G; p.S2181G; 17:31337481-31337481	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.8210C>T; p.A2737V; 17:31360536-31360536	skin	malignant_melanoma	Substitution - Missense
c.2448A>G; p.R816R; 17:31229063-31229063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3721C>A; p.R1241R; 17:31235623-31235623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5373C>T; p.I1791I; 17:31327603-31327603	skin	malignant_melanoma	Substitution - coding silent
c.6343C>A; p.P2115T; 17:31336830-31336830	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.334C>T; p.Q112*; 17:31163231-31163231	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4643_4653del11; p.P1548fs*12; 17:31261776-31261786	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.5612C>G; p.S1871*; 17:31330298-31330298	central_nervous_system; medulla	glioma; oligodendroglioma_Grade_III	Substitution - Nonsense
c.2004T>C; p.D668D; 17:31226437-31226437	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4589C>A; p.A1530D; 17:31261722-31261722	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2246C>G; p.S749*; 17:31226679-31226679	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.487G>T; p.E163*; 17:31169898-31169898	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.905G>A; p.S302N; 17:31200438-31200438	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4082_4083insT; p.R1362fs*18; 17:31249091-31249092	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.4384C>T; p.R1462W; 17:31259083-31259083	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3586_3587insT; p.A1197fs*7; 17:31233091-31233092	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.6906delG; p.Q2302fs*17; 17:31338790-31338790	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.7805A>T; p.N2602I; 17:31357026-31357026	skin; lower_leg	malignant_melanoma	Substitution - Missense
c.2851G>T; p.V951F; 17:31229835-31229835	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.479G>T; p.R160M; 17:31163376-31163376	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3748C>T; p.R1250W; 17:31235650-31235650	breast	carcinoma	Substitution - Missense
c.1603C>T; p.Q535*; 17:31219080-31219080	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.3821T>A; p.L1274H; 17:31235723-31235723	skin	malignant_melanoma	Substitution - Missense
c.4082_4083insT; p.R1362fs*18; 17:31249091-31249092	soft_tissue; nerve_sheath	neurofibroma; plexiform	Insertion - Frameshift
c.4880T>A; p.V1627D; 17:31325864-31325864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.683C>T; p.P228L; 17:31181738-31181738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5521C>A; p.Q1841K; 17:31327751-31327751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5521C>A; p.Q1841K; 17:31327751-31327751	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1642-1G>A; p.?; 17:31221849-31221849	skin	malignant_melanoma	Unknown
c.7075_7076insT; p.F2360fs*26; 17:31340595-31340596	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Insertion - Frameshift
c.935G>C; p.G312A; 17:31200468-31200468	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5521C>A; p.Q1841K; 17:31327751-31327751	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246_247delTC; p.Q83fs*23; 17:31159051-31159052	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.187_188insT; p.K63fs*4; 17:31156109-31156110	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.5261C>T; p.S1754F; 17:31326245-31326245	skin	malignant_melanoma	Substitution - Missense
c.3624G>T; p.L1208F; 17:31233129-31233129	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4110+1G>A; p.?; 17:31249120-31249120	lung	carcinoma; adenocarcinoma	Unknown
c.2266C>T; p.Q756*; 17:31227232-31227232	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2266C>T; p.Q756*; 17:31227232-31227232	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7063-1G>T; p.?; 17:31343008-31343008	ovary	carcinoma; serous_carcinoma	Unknown
c.2326G>A; p.A776T; 17:31227523-31227523	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.5444A>G; p.Q1815R; 17:31327674-31327674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1358G>T; p.G453V; 17:31206337-31206337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1641+1G>A; p.?; 17:31219119-31219119	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.4768T>C; p.L1590L; 17:31265272-31265272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3449C>T; p.S1150L; 17:31232834-31232834	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.6563C>T; p.S2188F; 17:31337503-31337503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.410C>T; p.S137F; 17:31163307-31163307	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6050C>T; p.T2017I; 17:31336376-31336376	skin; trunk	malignant_melanoma	Substitution - Missense
c.744G>C; p.K248N; 17:31182521-31182521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2163_2164insT; p.G722fs*4; 17:31226596-31226597	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.109G>A; p.E37K; 17:31156031-31156031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.410C>T; p.S137F; 17:31163307-31163307	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.4768T>C; p.L1590L; 17:31265272-31265272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4768T>C; p.L1590L; 17:31265272-31265272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7810C>T; p.L2604F; 17:31357031-31357031	skin	malignant_melanoma	Substitution - Missense
c.3587T>G; p.L1196R; 17:31233092-31233092	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.495_498delTGTT; p.C167fs*10; 17:31169906-31169909	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - Frameshift
c.7870-2A>T; p.?; 17:31357267-31357267	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.4171T>C; p.S1391P; 17:31252998-31252998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6836T>A; p.L2279*; 17:31338720-31338720	ovary	other; neoplasm	Substitution - Nonsense
c.3975-2A>G; p.?; 17:31248982-31248982	lung	carcinoma; adenocarcinoma	Unknown
c.2573C>A; p.S858Y; 17:31229188-31229188	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6855C>G; p.Y2285*; 17:31338739-31338739	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Nonsense
c.3975-2A>G; p.?; 17:31248982-31248982	kidney	other; neoplasm	Unknown
c.6836T>A; p.L2279*; 17:31338720-31338720	ovary	other; neoplasm	Substitution - Nonsense
c.3975-2A>G; p.?; 17:31248982-31248982	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.5571C>T; p.I1857I; 17:31327801-31327801	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1392G>A; p.P464P; 17:31206371-31206371	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.7232_7232delG; p.R2411fs*7; 17:31349162-31349162	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.204+1G>C; p.?; 17:31156127-31156127	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Unknown
c.480-57C>T; p.?; 17:31169834-31169834	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2052G>A; p.Q684Q; 17:31226485-31226485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7972C>T; p.H2658Y; 17:31358481-31358481	soft_tissue; fibrous_tissue_and_uncertain_o	fibrosarcoma; myxofibrosarcoma	Substitution - Missense
c.1884_1885insA; p.G629fs*5; 17:31225133-31225134	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.288+1G>T; p.?; 17:31159094-31159094	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.7618A>G; p.T2540A; 17:31356462-31356462	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.844C>T; p.Q282*; 17:31182621-31182621	skin	malignant_melanoma	Substitution - Nonsense
c.5324A>C; p.Q1775P; 17:31327554-31327554	liver	carcinoma	Substitution - Missense
c.5324A>C; p.Q1775P; 17:31327554-31327554	liver	carcinoma	Substitution - Missense
c.844C>T; p.Q282*; 17:31182621-31182621	skin	malignant_melanoma	Substitution - Nonsense
c.2464G>T; p.G822*; 17:31229079-31229079	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7003A>C; p.T2335P; 17:31340586-31340586	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.205-2A>G; p.?; 17:31159008-31159008	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.205-2A>G; p.?; 17:31159008-31159008	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5545G>T; p.D1849Y; 17:31327775-31327775	skin; lower_leg	malignant_melanoma	Substitution - Missense
c.2027_2028insC; p.I679fs*21; 17:31226460-31226461	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1831_1831C>TT; p.L611fs*3; 17:31223553-31223553	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Complex - frameshift
c.205-2A>G; p.?; 17:31159008-31159008	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm	Unknown
c.1721G>C; p.S574T; 17:31221929-31221929	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5923C>T; p.L1975F; 17:31334948-31334948	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5357C>A; p.S1786*; 17:31327587-31327587	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4602A>G; p.R1534R; 17:31261735-31261735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.369C>T; p.T123T; 17:31163266-31163266	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.654+1_654+2insT; p.?; 17:31181490-31181491	breast	carcinoma	Unknown
c.4108C>T; p.Q1370*; 17:31249117-31249117	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.2451_2452insG; p.S818fs*13; 17:31229066-31229067	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.586+1G>A; p.?; 17:31169998-31169998	central_nervous_system; brain	glioma	Unknown
c.7983G>A; p.L2661L; 17:31358492-31358492	skin	malignant_melanoma	Substitution - coding silent
c.1657C>T; p.H553Y; 17:31221865-31221865	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6343C>T; p.P2115S; 17:31336830-31336830	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7646C>T; p.S2549L; 17:31356490-31356490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma; plexiform	Whole gene deletion
c.1039C>T; p.Q347*; 17:31200572-31200572	skin	malignant_melanoma	Substitution - Nonsense
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma	Whole gene deletion
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma; plexiform	Whole gene deletion
c.879_879delC; p.N293fs*2; 17:31182656-31182656	adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.6007-1G>C; p.?; 17:31336332-31336332	central_nervous_system; brain	glioma	Unknown
c.7474C>T; p.Q2492*; 17:31352273-31352273	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6715C>T; p.Q2239*; 17:31338035-31338035	skin	malignant_melanoma	Substitution - Nonsense
c.6715C>T; p.Q2239*; 17:31338035-31338035	skin	malignant_melanoma	Substitution - Nonsense
c.800G>A; p.W267*; 17:31182577-31182577	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma; plexiform	Whole gene deletion
c.1039C>T; p.Q347*; 17:31200572-31200572	breast	carcinoma	Substitution - Nonsense
c.822T>C; p.L274L; 17:31182599-31182599	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1_8520del8520; p.0?; 17:31095311-31374156	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Whole gene deletion
c.2410-3T>G; p.?; 17:31229022-31229022	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.2928_2940del13; p.E977fs*3; 17:31229912-31229924	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma; plexiform	Whole gene deletion
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma	Whole gene deletion
c.62T>C; p.L21P; 17:31155984-31155984	ovary	other; neoplasm	Substitution - Missense
c.1_8520del8520; p.0?; 17:31095311-31374156	soft_tissue; nerve_sheath	neurofibroma	Whole gene deletion
c.5838G>A; p.L1946L; 17:31334863-31334863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5740A>G; p.T1914A; 17:31330426-31330426	pancreas	carcinoma	Substitution - Missense
c.5740A>G; p.T1914A; 17:31330426-31330426	pancreas	carcinoma	Substitution - Missense
c.3398_3399delGC; p.G1133fs*61; 17:31232783-31232784	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.587-2A>G; p.?; 17:31181420-31181420	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2079_2087delGTTTCTGTG; p.F694_W696delFLW; 17:31226512-31226520	skin; mucosal	malignant_melanoma	Deletion - In frame
c.1642-1G>T; p.?; 17:31221849-31221849	lung	carcinoma; adenocarcinoma	Unknown
c.5740A>G; p.T1914A; 17:31330426-31330426	pancreas	carcinoma	Substitution - Missense
c.7901_7924del24; p.F2634_E2641del; 17:31357300-31357323	adrenal_gland	pheochromocytoma	Deletion - In frame
c.3354_3375del22; p.E1119fs*16; 17:31232739-31232760	adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.1527+1159C>T; p.?; 17:31215744-31215744	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Unknown
c.5357C>T; p.S1786L; 17:31327587-31327587	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7783_7784delAA; p.K2595fs*5; 17:31357004-31357005	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1846C>T; p.Q616*; 17:31225095-31225095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Nonsense
c.846G>A; p.Q282Q; 17:31182623-31182623	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.1007G>A; p.W336*; 17:31200540-31200540	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4711G>T; p.E1571*; 17:31261844-31261844	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.6922_6922delG; p.D2308fs*11; 17:31340505-31340505	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4341G>T; p.Q1447H; 17:31259040-31259040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4331A>G; p.K1444R; 17:31258501-31258501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5694A>G; p.L1898L; 17:31330380-31330380	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.3870G>A; p.?; 17:31235772-31235772	skin	malignant_melanoma	Unknown
c.4331A>G; p.K1444R; 17:31258501-31258501	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2829_2830insT; p.D946fs*1; 17:31229444-31229445	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1519T>G; p.L507V; 17:31214577-31214577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2677_2689del13; p.K893fs*5; 17:31229292-31229304	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.2117C>T; p.A706V; 17:31226550-31226550	central_nervous_system; brain	glioma	Substitution - Missense
c.6428-1G>A; p.?; 17:31337367-31337367	urinary_tract; bladder	carcinoma	Unknown
c.7146C>G; p.F2382L; 17:31343092-31343092	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.369C>G; p.T123T; 17:31163266-31163266	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.587-1G>A; p.?; 17:31181421-31181421	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2421delC; p.L808fs*13; 17:31229036-31229036	adrenal_gland; adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.2421delC; p.L808fs*13; 17:31229036-31229036	adrenal_gland; adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.4340A>G; p.Q1447R; 17:31259039-31259039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>C; p.G520R; 17:31219035-31219035	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6921G>A; p.?; 17:31338805-31338805	skin	malignant_melanoma	Unknown
c.7300C>T; p.Q2434*; 17:31349230-31349230	skin	malignant_melanoma	Substitution - Nonsense
c.7172T>C; p.V2391A; 17:31343118-31343118	ovary	other; neoplasm	Substitution - Missense
c.4441G>C; p.D1481H; 17:31260379-31260379	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1594delC; p.L532fs*24; 17:31219071-31219071	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.169G>C; p.G57R; 17:31156091-31156091	liver	carcinoma	Substitution - Missense
c.5878_5887del10; p.C1960fs*16; 17:31334903-31334912	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Deletion - Frameshift
c.2534G>A; p.C845Y; 17:31229149-31229149	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.5997C>T; p.S1999S; 17:31335022-31335022	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6642+1G>C; p.?; 17:31337583-31337583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.3901C>T; p.L1301L; 17:31235948-31235948	skin	malignant_melanoma	Substitution - coding silent
c.7184_7189+1delTAAAAGG; p.?; 17:31343130-31343136	breast	carcinoma	Unknown
c.5640A>G; p.L1880L; 17:31330326-31330326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.376G>T; p.E126*; 17:31163273-31163273	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5003G>T; p.G1668V; 17:31325987-31325987	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5640A>G; p.L1880L; 17:31330326-31330326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.4051A>G; p.I1351V; 17:31249060-31249060	liver	carcinoma	Substitution - Missense
c.2389G>T; p.A797S; 17:31227586-31227586	kidney	other; neoplasm	Substitution - Missense
c.5640A>G; p.L1880L; 17:31330326-31330326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.237_238insT; p.Y80fs*27; 17:31159042-31159043	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.1888delG; p.V630fs*1; 17:31225137-31225137	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1888delG; p.V630fs*1; 17:31225137-31225137	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.8414C>A; p.T2805N; 17:31374049-31374049	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4051A>G; p.I1351V; 17:31249060-31249060	liver	carcinoma	Substitution - Missense
c.540A>G; p.L180L; 17:31169951-31169951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1888delG; p.V630fs*1; 17:31225137-31225137	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5640A>G; p.L1880L; 17:31330326-31330326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.5640A>G; p.L1880L; 17:31330326-31330326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.2533T>C; p.C845R; 17:31229148-31229148	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5902C>T; p.R1968*; 17:31334927-31334927	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2533T>C; p.C845R; 17:31229148-31229148	central_nervous_system; brain	glioma	Substitution - Missense
c.3719C>T; p.A1240V; 17:31235621-31235621	skin	malignant_melanoma	Substitution - Missense
c.603_621del19; p.F201fs*4; 17:31181438-31181456	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5902C>T; p.R1968*; 17:31334927-31334927	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.7487C>T; p.S2496F; 17:31352286-31352286	skin	malignant_melanoma	Substitution - Missense
c.7487C>T; p.S2496F; 17:31352286-31352286	skin	malignant_melanoma	Substitution - Missense
c.5902C>T; p.R1968*; 17:31334927-31334927	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2567G>A; p.S856N; 17:31229182-31229182	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5855G>A; p.W1952*; 17:31334880-31334880	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2841C>T; p.S947S; 17:31229456-31229456	skin	malignant_melanoma	Substitution - coding silent
c.7548C>T; p.P2516P; 17:31352347-31352347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1831_1832ins10; p.N614fs*3; 17:31223553-31223554	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.8265C>T; p.L2755L; 17:31360591-31360591	skin	malignant_melanoma	Substitution - coding silent
c.7487C>T; p.S2496F; 17:31352286-31352286	skin	malignant_melanoma	Substitution - Missense
c.7663_7684del22; p.K2555fs*8; 17:31356507-31356528	soft_tissue; blood_vessel	glomus_tumour	Deletion - Frameshift
c.872delA; p.N292fs*3; 17:31182649-31182649	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.5902C>T; p.R1968*; 17:31334927-31334927	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Substitution - Nonsense
c.4985G>T; p.W1662L; 17:31325969-31325969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6577_6578delGA; p.E2193fs*48; 17:31337517-31337518	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1318C>T; p.R440*; 17:31206297-31206297	skin	malignant_melanoma	Substitution - Nonsense
c.1318C>T; p.R440*; 17:31206297-31206297	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.730+2_730+4delTAA; p.?; 17:31181787-31181789	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1318C>T; p.R440*; 17:31206297-31206297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7458-2A>G; p.?; 17:31352255-31352255	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.581T>C; p.L194P; 17:31169992-31169992	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3722G>T; p.R1241L; 17:31235624-31235624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2851-2A>G; p.?; 17:31229833-31229833	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.6299T>A; p.L2100H; 17:31336786-31336786	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1318C>T; p.R440*; 17:31206297-31206297	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.5142A>T; p.K1714N; 17:31326126-31326126	skin	malignant_melanoma	Substitution - Missense
c.1318C>T; p.R440*; 17:31206297-31206297	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.682C>T; p.P228S; 17:31181737-31181737	skin	malignant_melanoma	Substitution - Missense
c.1318C>T; p.R440*; 17:31206297-31206297	skin	malignant_melanoma	Substitution - Nonsense
c.205-1G>C; p.R69fs*7; 17:31159009-31159009	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.1318C>T; p.R440*; 17:31206297-31206297	skin; back	malignant_melanoma	Substitution - Nonsense
c.581T>C; p.L194P; 17:31169992-31169992	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4985G>T; p.W1662L; 17:31325969-31325969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3723A>G; p.R1241R; 17:31235625-31235625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4812_4813insT; p.I1605fs*17; 17:31265316-31265317	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.1318C>T; p.R440*; 17:31206297-31206297	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.1318C>T; p.R440*; 17:31206297-31206297	skin	malignant_melanoma	Substitution - Nonsense
c.1318C>T; p.R440*; 17:31206297-31206297	skin	malignant_melanoma	Substitution - Nonsense
c.3158C>G; p.S1053*; 17:31230886-31230886	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4879G>T; p.V1627F; 17:31325863-31325863	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2953C>T; p.Q985*; 17:31229937-31229937	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.6290C>T; p.A2097V; 17:31336777-31336777	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.6264G>A; p.L2088L; 17:31336751-31336751	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1641G>A; p.E547E; 17:31219118-31219118	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2545G>T; p.G849*; 17:31229160-31229160	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7870-2A>G; p.?; 17:31357267-31357267	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.6264G>C; p.L2088L; 17:31336751-31336751	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3049C>T; p.Q1017*; 17:31230318-31230318	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.5664C>T; p.I1888I; 17:31330350-31330350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5083C>T; p.R1695W; 17:31326067-31326067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3049C>T; p.Q1017*; 17:31230318-31230318	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3875A>G; p.Y1292C; 17:31235922-31235922	liver	carcinoma	Substitution - Missense
c.5018A>G; p.N1673S; 17:31326002-31326002	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7602_7603insT; p.K2535fs*1; 17:31352401-31352402	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Insertion - Frameshift
c.7181delT; p.L2395fs*1; 17:31343127-31343127	skin; hip	malignant_melanoma	Deletion - Frameshift
c.4053C>G; p.I1351M; 17:31249062-31249062	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7647A>G; p.S2549S; 17:31356491-31356491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7647A>G; p.S2549S; 17:31356491-31356491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7647A>G; p.S2549S; 17:31356491-31356491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5793_5793delT; p.S1932fs*10; 17:31330479-31330479	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.1885G>T; p.G629W; 17:31225134-31225134	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.7006G>A; p.A2336T; 17:31340589-31340589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1641+2delT; p.?; 17:31219120-31219120	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2747A>G; p.N916S; 17:31229362-31229362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.67A>T; p.I23L; 17:31155989-31155989	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.7006G>A; p.A2336T; 17:31340589-31340589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6675G>A; p.W2225*; 17:31337851-31337851	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.8017C>T; p.Q2673*; 17:31358526-31358526	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1405A>C; p.K469Q; 17:31214463-31214463	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3827G>T; p.R1276L; 17:31235729-31235729	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6354_6355insC; p.R2119fs*10; 17:31336841-31336842	breast	carcinoma	Insertion - Frameshift
c.3827G>T; p.R1276L; 17:31235729-31235729	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5572G>A; p.A1858T; 17:31327802-31327802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5490C>T; p.R1830R; 17:31327720-31327720	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.935_935delG; p.G312fs*5; 17:31200468-31200468	adrenal_gland	pheochromocytoma	Deletion - Frameshift
c.5872C>T; p.R1958C; 17:31334897-31334897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7468G>A; p.E2490K; 17:31352267-31352267	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2130_2131insCG; p.H712fs*37; 17:31226563-31226564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Insertion - Frameshift
c.5572G>A; p.A1858T; 17:31327802-31327802	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3208C>T; p.Q1070*; 17:31232083-31232083	skin	malignant_melanoma	Substitution - Nonsense
c.1645_1646delCT; p.L549fs*8; 17:31221853-31221854	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.6351C>T; p.S2117S; 17:31336838-31336838	skin; scalp	malignant_melanoma	Substitution - coding silent
c.3208C>T; p.Q1070*; 17:31232083-31232083	skin	malignant_melanoma	Substitution - Nonsense
c.2051A>G; p.Q684R; 17:31226484-31226484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7822_7823insT; p.E2608fs*5; 17:31357043-31357044	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.5173delA; p.K1725fs*9; 17:31326157-31326157	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Deletion - Frameshift
c.3709-2A>T; p.?; 17:31235609-31235609	lung	carcinoma; adenocarcinoma	Unknown
c.5306_5306delG; p.R1769fs*5; 17:31327536-31327536	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.3917G>T; p.R1306L; 17:31235964-31235964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5062G>T; p.E1688*; 17:31326046-31326046	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3735_3744del10; p.F1247fs*16; 17:31235637-31235646	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1496T>C; p.L499P; 17:31214554-31214554	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.7501G>T; p.E2501*; 17:31352300-31352300	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.4110+1G>C; p.?; 17:31249120-31249120	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.3917G>T; p.R1306L; 17:31235964-31235964	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2351G>A; p.W784*; 17:31227548-31227548	skin	malignant_melanoma	Substitution - Nonsense
c.6512A>G; p.K2171R; 17:31337452-31337452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6772C>T; p.R2258*; 17:31338092-31338092	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.2033delC; p.P678fs*10; 17:31226466-31226466	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.81G>A; p.Q27Q; 17:31156003-31156003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1260+1G>A; p.?; 17:31201486-31201486	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.2033delC; p.P678fs*10; 17:31226466-31226466	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1785A>G; p.E595E; 17:31223507-31223507	liver	carcinoma	Substitution - coding silent
c.2033delC; p.P678fs*10; 17:31226466-31226466	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.3568G>T; p.G1190C; 17:31233073-31233073	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2915T>C; p.L972P; 17:31229899-31229899	skin	malignant_melanoma	Substitution - Missense
c.6772C>T; p.R2258*; 17:31338092-31338092	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.6242T>G; p.L2081*; 17:31336729-31336729	central_nervous_system; brain	glioma	Substitution - Nonsense
c.3818_3819delCT; p.F1275fs*8; 17:31235720-31235721	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.6995C>A; p.S2332*; 17:31340578-31340578	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2659G>A; p.A887T; 17:31229274-31229274	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7971-7C>A; p.?; 17:31358473-31358473	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1153delC; p.R385fs*2; 17:31201127-31201127	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.245C>G; p.S82C; 17:31159050-31159050	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6820-1G>C; p.?; 17:31340504-31340504	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2505G>C; p.Q835H; 17:31229120-31229120	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2193C>T; p.L731L; 17:31226626-31226626	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.435C>T; p.L145L; 17:31163332-31163332	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3050A>G; p.Q1017R; 17:31230319-31230319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6820-1G>C; p.?; 17:31340504-31340504	lung	carcinoma; adenocarcinoma	Unknown
c.1319G>A; p.R440Q; 17:31206298-31206298	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1219C>G; p.H407D; 17:31201444-31201444	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1382G>A; p.R461Q; 17:31206361-31206361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6995C>A; p.S2332*; 17:31340578-31340578	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4328C>G; p.S1443*; 17:31258498-31258498	breast	carcinoma	Substitution - Nonsense
c.4259C>G; p.S1420*; 17:31258429-31258429	breast	carcinoma	Substitution - Nonsense
c.1550A>G; p.E517G; 17:31219027-31219027	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1663_1666delTTAG; p.L555fs*12; 17:31221871-31221874	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5444A>T; p.Q1815L; 17:31327674-31327674	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2991G>T; p.R997S; 17:31230260-31230260	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4136A>C; p.K1379T; 17:31252963-31252963	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5088G>T; p.L1696L; 17:31326072-31326072	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6188_6189insAGGCTTT; p.S2064fs*16; 17:31336675-31336676	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.864G>T; p.V288V; 17:31182641-31182641	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1205C>T; p.S402L; 17:31201430-31201430	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.4638_4638delG; p.G1547fs*27; 17:31261771-31261771	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.6007-2A>G; p.?; 17:31336331-31336331	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.6007-2A>G; p.?; 17:31336331-31336331	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3296A>T; p.K1099I; 17:31232171-31232171	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2798T>C; p.L933P; 17:31229413-31229413	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2971A>G; p.M991V; 17:31229955-31229955	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6950G>T; p.W2317L; 17:31340533-31340533	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6950G>T; p.W2317L; 17:31340533-31340533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1392+1G>T; p.?; 17:31206372-31206372	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1279C>T; p.P427S; 17:31206258-31206258	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5123T>G; p.F1708C; 17:31326107-31326107	large_intestine; caecum	adenoma	Substitution - Missense
c.1279C>T; p.P427S; 17:31206258-31206258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8001C>A; p.T2667T; 17:31358510-31358510	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1392+53delT; p.?; 17:31206424-31206424	large_intestine	carcinoma; adenocarcinoma	Unknown
c.7439A>G; p.H2480R; 17:31350300-31350300	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6330A>T; p.L2110F; 17:31336817-31336817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2712T>A; p.C904*; 17:31229327-31229327	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4082T>G; p.L1361R; 17:31249091-31249091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4082T>G; p.L1361R; 17:31249091-31249091	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6450A>C; p.R2150S; 17:31337390-31337390	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.801G>A; p.W267*; 17:31182578-31182578	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.3592G>T; p.E1198*; 17:31233097-31233097	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.801G>A; p.W267*; 17:31182578-31182578	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.1860T>G; p.S620R; 17:31225109-31225109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5665G>A; p.E1889K; 17:31330351-31330351	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4352A>G; p.N1451S; 17:31259051-31259051	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5973T>C; p.S1991S; 17:31334998-31334998	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.952_953insA; p.S319fs*11; 17:31200485-31200486	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.1557A>G; p.Q519Q; 17:31219034-31219034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1162C>A; p.P388T; 17:31201136-31201136	large_intestine; colon	carcinoma	Substitution - Missense
c.1900_1907delATTCCTTC; p.I634fs*1; 17:31225149-31225156	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4043A>G; p.H1348R; 17:31249052-31249052	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5961G>A; p.Q1987Q; 17:31334986-31334986	skin	malignant_melanoma	Substitution - coding silent
c.4821T>G; p.Y1607*; 17:31265325-31265325	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1557A>G; p.Q519Q; 17:31219034-31219034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6852delT; p.Y2285fs*6; 17:31338736-31338736	central_nervous_system; cerebellum	glioma; astrocytoma_Grade_I	Deletion - Frameshift
c.705C>G; p.Y235*; 17:31181760-31181760	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.288+24G>A; p.?; 17:31159117-31159117	large_intestine	carcinoma; adenocarcinoma	Unknown
c.4974_4977delTCTC; p.K1661fs*36; 17:31325958-31325961	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.2294G>T; p.R765L; 17:31227260-31227260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1641+2T>G; p.?; 17:31219120-31219120	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.6472_6472delT; p.L2158fs*42; 17:31337412-31337412	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.2061A>G; p.L687L; 17:31226494-31226494	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392+52delTT; p.?; 17:31206423-31206424	large_intestine	carcinoma; adenocarcinoma	Unknown
c.6798G>C; p.Q2266H; 17:31338118-31338118	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5483G>A; p.R1828Q; 17:31327713-31327713	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5443C>T; p.Q1815*; 17:31327673-31327673	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4486C>T; p.L1496F; 17:31260424-31260424	skin; neck	malignant_melanoma	Substitution - Missense
c.2087G>A; p.W696*; 17:31226520-31226520	skin	malignant_melanoma	Substitution - Nonsense
c.2695T>G; p.L899V; 17:31229310-31229310	breast	carcinoma	Substitution - Missense
c.730+2T>G; p.?; 17:31181787-31181787	prostate	carcinoma; adenocarcinoma	Unknown
c.2474C>G; p.S825C; 17:31229089-31229089	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.2695T>G; p.L899V; 17:31229310-31229310	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.2474C>G; p.S825C; 17:31229089-31229089	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.2695T>G; p.L899V; 17:31229310-31229310	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.629T>A; p.L210*; 17:31181464-31181464	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.6472_6472delT; p.L2158fs*42; 17:31337412-31337412	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5483G>A; p.R1828Q; 17:31327713-31327713	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.629T>A; p.L210*; 17:31181464-31181464	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.5443C>T; p.Q1815*; 17:31327673-31327673	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.6798G>C; p.Q2266H; 17:31338118-31338118	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.6798G>C; p.Q2266H; 17:31338118-31338118	urinary_tract; bladder	carcinoma	Substitution - Missense
c.359_375del17; p.F120fs*1; 17:31163256-31163272	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.3158C>A; p.S1053*; 17:31230886-31230886	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Substitution - Nonsense
c.1976G>A; p.R659Q; 17:31225225-31225225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3845G>T; p.S1282I; 17:31235747-31235747	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2026_2027insC; p.I679fs*21; 17:31226459-31226460	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.833C>T; p.P278L; 17:31182610-31182610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2026_2027insC; p.I679fs*21; 17:31226459-31226460	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.731-1G>T; p.?; 17:31182507-31182507	ovary	carcinoma; serous_carcinoma	Unknown
c.2026_2027insC; p.I679fs*21; 17:31226459-31226460	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2026_2027insC; p.I679fs*21; 17:31226459-31226460	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.7288G>T; p.E2430*; 17:31349218-31349218	skin; ear	malignant_melanoma	Substitution - Nonsense
c.5644T>C; p.C1882R; 17:31330330-31330330	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2026_2027insC; p.I679fs*21; 17:31226459-31226460	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.4754_4755insG; p.A1586fs*36; 17:31265258-31265259	soft_tissue; nerve_sheath	neurofibroma	Insertion - Frameshift
c.7348C>T; p.R2450*; 17:31350209-31350209	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.3916C>T; p.R1306*; 17:31235963-31235963	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.1198C>T; p.Q400*; 17:31201423-31201423	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.8161-1G>T; p.?; 17:31360486-31360486	urinary_tract; bladder	carcinoma	Unknown
c.3916C>T; p.R1306*; 17:31235963-31235963	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.6628T>G; p.L2210V; 17:31337568-31337568	central_nervous_system; thalamus	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.7348C>T; p.R2450*; 17:31350209-31350209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	central_nervous_system; brain	glioma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3916C>T; p.R1306*; 17:31235963-31235963	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	central_nervous_system; brain	glioma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.8161-1G>T; p.?; 17:31360486-31360486	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.3916C>T; p.R1306*; 17:31235963-31235963	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.3916C>T; p.R1306*; 17:31235963-31235963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.336_343delGTTGCTGC; p.Q112fs*12; 17:31163233-31163240	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.3916C>T; p.R1306*; 17:31235963-31235963	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.3916C>T; p.R1306*; 17:31235963-31235963	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3916C>T; p.R1306*; 17:31235963-31235963	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7348C>T; p.R2450*; 17:31350209-31350209	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.6121G>T; p.G2041*; 17:31336447-31336447	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2050C>T; p.Q684*; 17:31226483-31226483	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.2050C>T; p.Q684*; 17:31226483-31226483	skin	malignant_melanoma	Substitution - Nonsense
c.8344A>G; p.M2782V; 17:31360670-31360670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7484C>T; p.S2495F; 17:31352283-31352283	skin; face	malignant_melanoma	Substitution - Missense
c.5755G>A; p.E1919K; 17:31330441-31330441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5734_5737delAGTA; p.S1912fs*12; 17:31330420-31330423	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.7895A>T; p.D2632V; 17:31357294-31357294	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3773G>A; p.W1258*; 17:31235675-31235675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5959C>T; p.Q1987*; 17:31334984-31334984	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.505_524del20; p.E169fs*1; 17:31169916-31169935	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.7305C>T; p.S2435S; 17:31349235-31349235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2990_2990delG; p.R997fs*15; 17:31229974-31229974	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - Frameshift
c.1720A>G; p.S574G; 17:31221928-31221928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5959C>T; p.Q1987*; 17:31334984-31334984	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4578-2A>G; p.?; 17:31261709-31261709	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.931G>T; p.G311*; 17:31200464-31200464	skin	malignant_melanoma	Substitution - Nonsense
c.5247_5248insA; p.D1750fs*7; 17:31326231-31326232	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Insertion - Frameshift
c.655-8delATTTAT; p.?; 17:31181702-31181707	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.1260+2T>G; p.?; 17:31201487-31201487	lung	carcinoma; adenocarcinoma	Unknown
c.4578-2A>G; p.?; 17:31261709-31261709	soft_tissue; nerve_sheath	neurofibroma; plexiform	Unknown
c.489_489delA; p.E163fs*2; 17:31169900-31169900	adrenal_gland; adrenal_gland	pheochromocytoma; malignant	Deletion - Frameshift
c.5546A>G; p.D1849G; 17:31327776-31327776	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5305C>T; p.R1769*; 17:31327535-31327535	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5950A>G; p.N1984D; 17:31334975-31334975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5305C>T; p.R1769*; 17:31327535-31327535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.7823_7824insT; p.E2608fs*5; 17:31357044-31357045	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.2972T>A; p.M991K; 17:31229956-31229956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1178_1179delAC; p.H393fs*2; 17:31201152-31201153	soft_tissue; nerve_sheath	neurofibroma; plexiform	Deletion - Frameshift
c.5546A>G; p.D1849G; 17:31327776-31327776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7987_7987delT; p.S2663fs*16; 17:31358496-31358496	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.5905C>T; p.Q1969*; 17:31334930-31334930	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.7812C>T; p.L2604L; 17:31357033-31357033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5305C>T; p.R1769*; 17:31327535-31327535	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.5905C>T; p.Q1969*; 17:31334930-31334930	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1846-1G>A; p.?; 17:31225094-31225094	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5546A>G; p.D1849G; 17:31327776-31327776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1625C>A; p.A542D; 17:31219102-31219102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5905C>T; p.Q1969*; 17:31334930-31334930	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6626T>C; p.L2209S; 17:31337566-31337566	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5905C>T; p.Q1969*; 17:31334930-31334930	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5305C>T; p.R1769*; 17:31327535-31327535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Nonsense
c.6468C>A; p.F2156L; 17:31337408-31337408	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2990+1G>A; p.?; 17:31229466-31229466	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.2990+1G>A; p.?; 17:31229466-31229466	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.4577+1G>C; p.?; 17:31260516-31260516	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.4617G>T; p.M1539I; 17:31261750-31261750	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7458-1G>A; p.?; 17:31352256-31352256	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.160G>T; p.V54F; 17:31156082-31156082	breast	carcinoma	Substitution - Missense
c.3077G>A; p.R1026K; 17:31230346-31230346	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.160G>T; p.V54F; 17:31156082-31156082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>T; p.E76*; 17:31159031-31159031	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Substitution - Nonsense
c.3307T>G; p.F1103V; 17:31232182-31232182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2990+1G>A; p.?; 17:31229466-31229466	soft_tissue; nerve_sheath	neurofibroma	Unknown
c.821T>C; p.L274P; 17:31182598-31182598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4577+1G>C; p.?; 17:31260516-31260516	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.5783A>G; p.E1928G; 17:31330469-31330469	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>G; p.L161*; 17:31169893-31169893	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Nonsense
c.61-4delT; p.?; 17:31155979-31155979	large_intestine	carcinoma; adenocarcinoma	Unknown
c.6926_6927insAAAGA; p.P2310fs*11; 17:31340509-31340510	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.910C>T; p.R304*; 17:31200443-31200443	soft_tissue; fibrous_tissue_and_uncertain_o	fibrosarcoma; myxofibrosarcoma	Substitution - Nonsense
c.5951A>C; p.N1984T; 17:31334976-31334976	soft_tissue; nerve_sheath	neurofibroma	Substitution - Missense
c.1541_1542delAG; p.Q514fs*43; 17:31219018-31219019	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.910C>T; p.R304*; 17:31200443-31200443	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Nonsense
c.910C>T; p.R304*; 17:31200443-31200443	soft_tissue; fibrous_tissue_and_uncertain_o	fibrosarcoma; myxofibrosarcoma	Substitution - Nonsense
c.1541_1542delAG; p.Q514fs*43; 17:31219018-31219019	soft_tissue; nerve_sheath	malignant_peripheral_nerve_sheath_tumour	Deletion - Frameshift
c.910C>T; p.R304*; 17:31200443-31200443	soft_tissue; nerve_sheath	neurofibroma; plexiform	Substitution - Nonsense
c.910C>T; p.R304*; 17:31200443-31200443	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.397_397delG; p.E133fs*32; 17:31163294-31163294	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.5608C>T; p.R1870W; 17:31327838-31327838	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.5608C>T; p.R1870W; 17:31327838-31327838	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.910C>T; p.R304*; 17:31200443-31200443	soft_tissue; nerve_sheath	neurofibroma	Substitution - Nonsense
c.4962T>A; p.F1654L; 17:31325946-31325946	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4174-2A>T; p.?; 17:31258342-31258342	adrenal_gland	pheochromocytoma	Unknown
c.2325G>C; p.E775D; 17:31227291-31227291	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5588G>C; p.G1863A; 17:31327818-31327818	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2373C>G; p.I791M; 17:31227570-31227570	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.971_976delGTGTCA; p.C324_K326>*; 17:31200504-31200509	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Complex - deletion inframe
c.1243C>T; p.H415Y; 17:31201468-31201468	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3520C>T; p.Q1174*; 17:31233025-31233025	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.4341G>C; p.Q1447H; 17:31259040-31259040	breast	carcinoma	Substitution - Missense
c.4332G>C; p.K1444N; 17:31258502-31258502	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4332G>C; p.K1444N; 17:31258502-31258502	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4332G>C; p.K1444N; 17:31258502-31258502	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.8265C>A; p.L2755L; 17:31360591-31360591	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5867T>G; p.L1956R; 17:31334892-31334892	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.204+1G>T; p.?; 17:31156127-31156127	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.7239A>G; p.L2413L; 17:31349169-31349169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1721+3A>T; p.A548fs*13; 17:31221932-31221932	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.8133G>T; p.L2711F; 17:31358988-31358988	thyroid	other; neoplasm	Substitution - Missense
c.3520C>T; p.Q1174*; 17:31233025-31233025	ovary	other; neoplasm	Substitution - Nonsense
c.2546_2546delG; p.G849fs*29; 17:31229161-31229161	adrenal_gland; adrenal_gland	pheochromocytoma; benign	Deletion - Frameshift
c.4332G>C; p.K1444N; 17:31258502-31258502	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4669A>G; p.T1557A; 17:31261802-31261802	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2324A>C; p.E775A; 17:31227290-31227290	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3272A>G; p.D1091G; 17:31232147-31232147	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.5464C>T; p.Q1822*; 17:31327694-31327694	skin	malignant_melanoma	Substitution - Nonsense
c.2252-31A>G; p.?; 17:31227187-31227187	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1724C>T; p.S575L; 17:31223446-31223446	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1611C>T; p.H537H; 17:31219088-31219088	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6355_6385del31; p.R2119fs*21; 17:31336842-31336872	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.4151delA; p.K1386fs*20; 17:31252978-31252978	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7115A>G; p.K2372R; 17:31343061-31343061	pancreas	carcinoma	Substitution - Missense
c.4549A>G; p.K1517E; 17:31260487-31260487	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.4560G>T; p.Q1520H; 17:31260498-31260498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6853T>C; p.Y2285H; 17:31338737-31338737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2792C>T; p.P931L; 17:31229407-31229407	skin	malignant_melanoma	Substitution - Missense
c.6853T>C; p.Y2285H; 17:31338737-31338737	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1570G>T; p.E524*; 17:31219047-31219047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1748A>G; p.K583R; 17:31223470-31223470	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.7053C>G; p.F2351L; 17:31340636-31340636	breast	carcinoma	Substitution - Missense
c.1393-1G>C; p.?; 17:31214450-31214450	breast	carcinoma	Unknown
c.3727_3728delCT; p.L1243fs*5; 17:31235629-31235630	soft_tissue; nerve_sheath	neurofibroma	Deletion - Frameshift
c.3827G>A; p.R1276Q; 17:31235729-31235729	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3712G>T; p.E1238*; 17:31235614-31235614	skin	malignant_melanoma	Substitution - Nonsense
c.2027delC; p.P678fs*10; 17:31226460-31226460	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - Frameshift
c.3827G>A; p.R1276Q; 17:31235729-31235729	skin	malignant_melanoma	Substitution - Missense
c.7877_7904del28; p.V2627fs*8; 17:31357276-31357303	breast	carcinoma	Deletion - Frameshift
c.4560G>C; p.Q1520H; 17:31260498-31260498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4643C>T; p.P1548L; 17:31261776-31261776	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3827G>A; p.R1276Q; 17:31235729-31235729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3827G>A; p.R1276Q; 17:31235729-31235729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2027delC; p.P678fs*10; 17:31226460-31226460	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2027delC; p.P678fs*10; 17:31226460-31226460	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - Frameshift
c.5670C>A; p.G1890G; 17:31330356-31330356	stomach	adenocarcinoma	Substitution - coding silent
c.175A>C; p.T59P; 17:31156097-31156097	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.8499T>G; p.N2833K; 17:31374134-31374134	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.4747G>T; p.E1583*; 17:31265251-31265251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1096A>T; p.R366*; 17:31201070-31201070	breast	carcinoma	Substitution - Nonsense
c.586+2T>C; p.?; 17:31169999-31169999	skin	malignant_melanoma	Unknown
c.3968C>T; p.P1323L; 17:31236015-31236015	skin; neck	malignant_melanoma	Substitution - Missense
c.4747G>T; p.E1583*; 17:31265251-31265251	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.590C>A; p.T197K; 17:31181425-31181425	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1393-2_1400delAGAGTCTTAC; p.?; 17:31214449-31214458	lung	carcinoma; adenocarcinoma	Unknown
c.1213A>G; p.T405A; 17:31201438-31201438	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.655-1G>A; p.?; 17:31181709-31181709	soft_tissue; nerve_sheath	neurofibroma	Unknown

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]