Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
dbEMT 2.0
General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

4763

Name

NF1

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1567G>T; p.A523S; 17:31219044-31219044

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6118_6119delTC; p.S2040fs*19; 17:31336444-31336445

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.7783A>G; p.K2595E; 17:31357004-31357004

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3790G>A; p.E1264K; 17:31235692-31235692

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.4086_4092delAAGTGTG; p.S1363fs*13; 17:31249095-31249101

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.2341_2358del18; p.H781_Q786del; 17:31227538-31227555

soft_tissue; nerve_sheathneurofibromaDeletion - In frame

c.2500C>T; p.L834L; 17:31229115-31229115

skinmalignant_melanomaSubstitution - coding silent

c.961G>T; p.A321S; 17:31200494-31200494

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4203_4204insT; p.I1402fs*22; 17:31258373-31258374

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourInsertion - Frameshift

c.6927G>A; p.S2309S; 17:31340510-31340510

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.6927G>A; p.S2309S; 17:31340510-31340510

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1658A>G; p.H553R; 17:31221866-31221866

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.2041C>T; p.R681*; 17:31226474-31226474

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1658A>G; p.H553R; 17:31221866-31221866

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.1658A>G; p.H553R; 17:31221866-31221866

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.2041C>T; p.R681*; 17:31226474-31226474

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.3546T>C; p.V1182V; 17:31233051-31233051

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6853_6869del17; p.Y2285fs*16; 17:31338737-31338753

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1658A>G; p.H553R; 17:31221866-31221866

autonomic_gangliaganglioneuromaSubstitution - Missense

c.6927G>A; p.S2309S; 17:31340510-31340510

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3113+1G>T; p.?; 17:31230383-31230383

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraUnknown

c.4437_4438delCC; p.L1480fs*1; 17:31260375-31260376

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1398_1399insA; p.T467fs*3; 17:31214456-31214457

ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.4769T>G; p.L1590*; 17:31265273-31265273

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.8233G>A; p.G2745R; 17:31360559-31360559

breastcarcinomaSubstitution - Missense

c.4437_4438delCC; p.L1480fs*1; 17:31260375-31260376

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5956_5957insAC; p.K1986fs*27; 17:31334981-31334982

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.8233G>A; p.G2745R; 17:31360559-31360559

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.4769T>G; p.L1590*; 17:31265273-31265273

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.8147G>A; p.G2716E; 17:31359002-31359002

skin; trunkmalignant_melanomaSubstitution - Missense

c.6428-10T>G; p.?; 17:31337358-31337358

pancreascarcinomaUnknown

c.8023C>T; p.P2675S; 17:31358532-31358532

skinmalignant_melanomaSubstitution - Missense

c.538T>C; p.L180L; 17:31169949-31169949

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.528T>A; p.D176E; 17:31169939-31169939

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.6323_6326delCTTT; p.F2109fs*1; 17:31336810-31336813

skinmalignant_melanomaDeletion - Frameshift

c.889_889delA; p.K297fs*20; 17:31200422-31200422

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.988G>A; p.A330T; 17:31200521-31200521

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.7655_7659delAGGCT; p.K2552fs*2; 17:31356499-31356503

skin; scalpmalignant_melanomaDeletion - Frameshift

c.528T>A; p.D176E; 17:31169939-31169939

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.501T>C; p.C167C; 17:31169912-31169912

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.335A>G; p.Q112R; 17:31163232-31163232

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4443T>A; p.D1481E; 17:31260381-31260381

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4084C>T; p.R1362*; 17:31249093-31249093

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.5609+1G>T; p.?; 17:31327840-31327840

lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.7781G>C; p.R2594P; 17:31357002-31357002

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.4084C>T; p.R1362*; 17:31249093-31249093

skinmalignant_melanomaSubstitution - Nonsense

c.4084C>T; p.R1362*; 17:31249093-31249093

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7416T>A; p.P2472P; 17:31350277-31350277

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4084C>T; p.R1362*; 17:31249093-31249093

ovaryother; neoplasmSubstitution - Nonsense

c.4084C>T; p.R1362*; 17:31249093-31249093

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Nonsense

c.4084C>T; p.R1362*; 17:31249093-31249093

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3375_3376delGC; p.Q1126fs*68; 17:31232760-31232761

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.3491_3492CC>AT; p.S1164Y; 17:31232876-31232877

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4084C>T; p.R1362*; 17:31249093-31249093

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.4084C>T; p.R1362*; 17:31249093-31249093

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.483A>T; p.L161F; 17:31169894-31169894

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4084C>T; p.R1362*; 17:31249093-31249093

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.2293C>T; p.R765C; 17:31227259-31227259

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.7781G>C; p.R2594P; 17:31357002-31357002

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.7416T>A; p.P2472P; 17:31350277-31350277

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7646C>G; p.S2549*; 17:31356490-31356490

adrenal_gland; adrenal_glandpheochromocytoma; benignSubstitution - Nonsense

c.2178G>C; p.V726V; 17:31226611-31226611

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - coding silent

c.6758G>A; p.G2253E; 17:31338078-31338078

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2487T>A; p.S829S; 17:31229102-31229102

livercarcinomaSubstitution - coding silent

c.8499T>C; p.N2833N; 17:31374134-31374134

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - coding silent

c.6474A>G; p.L2158L; 17:31337414-31337414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2339_2356del18; p.T780_Q786>K; 17:31227536-31227553

soft_tissue; nerve_sheathneurofibromaComplex - deletion inframe

c.4760T>A; p.L1587*; 17:31265264-31265264

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7615+1G>A; p.?; 17:31352415-31352415

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1105C>T; p.Q369*; 17:31201079-31201079

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7646C>G; p.S2549*; 17:31356490-31356490

central_nervous_system; braingliomaSubstitution - Nonsense

c.6229G>A; p.D2077N; 17:31336716-31336716

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1989G>T; p.G663G; 17:31225238-31225238

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.7646C>G; p.S2549*; 17:31356490-31356490

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.3917G>A; p.R1306Q; 17:31235964-31235964

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7615+1G>A; p.?; 17:31352415-31352415

skinmalignant_melanomaUnknown

c.1105C>T; p.Q369*; 17:31201079-31201079

soft_tissue; fatliposarcoma; pleomorphicSubstitution - Nonsense

c.271G>A; p.E91K; 17:31159076-31159076

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Missense

c.5738_5741delAGAC; p.K1913fs*11; 17:31330424-31330427

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.7491C>A; p.P2497P; 17:31352290-31352290

skinmalignant_melanomaSubstitution - coding silent

c.7211C>T; p.A2404V; 17:31349141-31349141

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1659T>C; p.H553H; 17:31221867-31221867

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1556A>C; p.Q519P; 17:31219033-31219033

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.2543G>T; p.G848V; 17:31229158-31229158

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.543_546delGTAT; p.Y182fs*8; 17:31169954-31169957

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5956_5957insCA; p.K1986fs*27; 17:31334981-31334982

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.3028C>T; p.Q1010*; 17:31230297-31230297

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.5521C>T; p.Q1841*; 17:31327751-31327751

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.3028C>T; p.Q1010*; 17:31230297-31230297

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.5521C>T; p.Q1841*; 17:31327751-31327751

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1556A>C; p.Q519P; 17:31219033-31219033

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.8233G>T; p.G2745*; 17:31360559-31360559

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.5991G>A; p.W1997*; 17:31335016-31335016

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.5991G>A; p.W1997*; 17:31335016-31335016

adrenal_glandpheochromocytomaSubstitution - Nonsense

c.416C>T; p.S139F; 17:31163313-31163313

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4490delC; p.F1498fs*2; 17:31260428-31260428

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.416C>T; p.S139F; 17:31163313-31163313

lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.4958G>A; p.R1653H; 17:31325942-31325942

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.7630T>G; p.F2544V; 17:31356474-31356474

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3544G>T; p.V1182F; 17:31233049-31233049

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4502A>G; p.D1501G; 17:31260440-31260440

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1766_1783del18; p.M590_E595delMLSSTE; 17:31223488-31223505

ovarycarcinoma; serous_carcinomaDeletion - In frame

c.5756A>G; p.E1919G; 17:31330442-31330442

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6576T>A; p.Y2192*; 17:31337516-31337516

skin; hipmalignant_melanomaSubstitution - Nonsense

c.5756A>G; p.E1919G; 17:31330442-31330442

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3471A>G; p.V1157V; 17:31232856-31232856

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2246C>A; p.S749*; 17:31226679-31226679

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7909C>T; p.R2637*; 17:31357308-31357308

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.3283_3284insA; p.L1095fs*11; 17:31232158-31232159

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.5488C>T; p.R1830C; 17:31327718-31327718

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4525C>T; p.R1509C; 17:31260463-31260463

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2531T>C; p.L844P; 17:31229146-31229146

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.7512_7521del10; p.A2505fs*15; 17:31352311-31352320

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5488C>T; p.R1830C; 17:31327718-31327718

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5488C>T; p.R1830C; 17:31327718-31327718

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4543C>T; p.Q1515*; 17:31260481-31260481

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.2918A>C; p.D973A; 17:31229902-31229902

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.7909C>T; p.R2637*; 17:31357308-31357308

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5488C>T; p.R1830C; 17:31327718-31327718

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2246C>A; p.S749*; 17:31226679-31226679

central_nervous_system; braingliomaSubstitution - Nonsense

c.1264G>A; p.A422T; 17:31206243-31206243

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1466A>G; p.Y489C; 17:31214524-31214524

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2530C>T; p.L844F; 17:31229145-31229145

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2617C>T; p.R873C; 17:31229232-31229232

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2741G>T; p.R914L; 17:31229356-31229356

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1466A>G; p.Y489C; 17:31214524-31214524

adrenal_gland; adrenal_glandpheochromocytoma; benignSubstitution - Missense

c.2530C>T; p.L844F; 17:31229145-31229145

skinmalignant_melanomaSubstitution - Missense

c.1466A>G; p.Y489C; 17:31214524-31214524

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.1466A>G; p.Y489C; 17:31214524-31214524

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.7010T>G; p.L2337R; 17:31340593-31340593

soft_tissue; fibrous_tissue_and_uncertain_omalignant_fibrous_histiocytoma-pleomorphic_sarcomaSubstitution - Missense

c.2530C>T; p.L844F; 17:31229145-31229145

skinmalignant_melanomaSubstitution - Missense

c.1528-14_1546del33; p.?; 17:31218991-31219023

soft_tissue; nerve_sheathneurofibromaUnknown

c.5440_5458del19; p.H1814fs*43; 17:31327670-31327688

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.2741G>T; p.R914L; 17:31229356-31229356

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6667T>C; p.C2223R; 17:31337843-31337843

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.3317A>G; p.Y1106C; 17:31232702-31232702

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.730+1G>T; p.?; 17:31181786-31181786

thyroidcarcinomaUnknown

c.8203C>A; p.L2735I; 17:31360529-31360529

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7063-2A>G; p.?; 17:31343007-31343007

lungcarcinoma; squamous_cell_carcinomaUnknown

c.204+1G>A; p.?; 17:31156127-31156127

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.3407G>A; p.R1136Q; 17:31232792-31232792

livercarcinomaSubstitution - Missense

c.3714A>G; p.E1238E; 17:31235616-31235616

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.7451C>T; p.S2484F; 17:31350312-31350312

skinmalignant_melanomaSubstitution - Missense

c.204+1G>A; p.?; 17:31156127-31156127

soft_tissue; blood_vesselglomus_tumourUnknown

c.7189+2T>A; p.?; 17:31343137-31343137

central_nervous_system; braingliomaUnknown

c.7191_7191delG; p.Y2398fs*20; 17:31349121-31349121

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5626C>A; p.L1876I; 17:31330312-31330312

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3407G>A; p.R1136Q; 17:31232792-31232792

livercarcinomaSubstitution - Missense

c.5626C>A; p.L1876I; 17:31330312-31330312

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.2504A>G; p.Q835R; 17:31229119-31229119

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6216T>C; p.H2072H; 17:31336703-31336703

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1177C>G; p.H393D; 17:31201151-31201151

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.311T>C; p.L104S; 17:31163208-31163208

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8109_8110GC>TT; p.Q2704*; 17:31358618-31358619

adrenal_gland; adrenal_glandpheochromocytoma; benignSubstitution - Nonsense

c.1885G>A; p.Q616fs*4; 17:31225134-31225134

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5665G>C; p.E1889Q; 17:31330351-31330351

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1885G>A; p.Q616fs*4; 17:31225134-31225134

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.1885G>A; p.Q616fs*4; 17:31225134-31225134

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.1885G>A; p.Q616fs*4; 17:31225134-31225134

oesophaguscarcinomaDeletion - Frameshift

c.5268+1G>A; p.?; 17:31326253-31326253

soft_tissue; nerve_sheathneurofibromaUnknown

c.4333-1G>A; p.?; 17:31259031-31259031

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.7444G>A; p.D2482N; 17:31350305-31350305

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4022A>G; p.Q1341R; 17:31249031-31249031

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654+2T>C; p.?; 17:31181491-31181491

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.4022A>C; p.Q1341P; 17:31249031-31249031

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6345delG; p.L2116fs*34; 17:31336832-31336832

central_nervous_system; thalamusglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.4408_4408delA; p.S1470fs*13; 17:31259107-31259107

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.7962_7963insT; p.P2655fs*5; 17:31357361-31357362

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasmInsertion - Frameshift

c.7580G>T; p.G2527V; 17:31352379-31352379

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7798G>C; p.E2600Q; 17:31357019-31357019

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6065G>T; p.G2022V; 17:31336391-31336391

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2352G>C; p.W784C; 17:31227549-31227549

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.3126A>G; p.V1042V; 17:31230854-31230854

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.6450A>G; p.R2150R; 17:31337390-31337390

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7689C>T; p.I2563I; 17:31356533-31356533

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.6450A>G; p.R2150R; 17:31337390-31337390

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3325T>C; p.L1109L; 17:31232710-31232710

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2093C>T; p.P698L; 17:31226526-31226526

skinmalignant_melanomaSubstitution - Missense

c.648_649ins73; p.E217fs*8; 17:31181483-31181484

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.6450A>G; p.R2150R; 17:31337390-31337390

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1642-2A>G; p.?; 17:31221848-31221848

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.6450A>G; p.R2150R; 17:31337390-31337390

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1884C>A; p.Y628*; 17:31225133-31225133

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Nonsense

c.543G>T; p.Q181H; 17:31169954-31169954

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5837delT; p.L1946fs*4; 17:31334862-31334862

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4006C>T; p.Q1336*; 17:31249015-31249015

soft_tissue; fatliposarcoma; pleomorphicSubstitution - Nonsense

c.5123_5123delT; p.F1708fs*2; 17:31326107-31326107

adrenal_glandpheochromocytomaDeletion - Frameshift

c.730+2T>C; p.?; 17:31181787-31181787

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.4942A>T; p.T1648S; 17:31325926-31325926

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.6074C>T; p.S2025L; 17:31336400-31336400

skinmalignant_melanomaSubstitution - Missense

c.5367A>G; p.E1789E; 17:31327597-31327597

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2851-2A>T; p.?; 17:31229833-31229833

large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.6094G>A; p.A2032T; 17:31336420-31336420

pancreascarcinoid-endocrine_tumour; islet_cellSubstitution - Missense

c.2326-1G>A; p.?; 17:31227522-31227522

soft_tissue; nerve_sheathneurofibromaUnknown

c.6278C>T; p.S2093F; 17:31336765-31336765

skinmalignant_melanomaSubstitution - Missense

c.7019delA; p.N2341fs*5; 17:31340602-31340602

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.6854A>G; p.Y2285C; 17:31338738-31338738

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2765G>T; p.G922V; 17:31229380-31229380

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4339C>A; p.Q1447K; 17:31259038-31259038

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.7765C>T; p.Q2589*; 17:31356986-31356986

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4339C>A; p.Q1447K; 17:31259038-31259038

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.34G>A; p.A12T; 17:31095343-31095343

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6854A>G; p.Y2285C; 17:31338738-31338738

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.481T>C; p.L161L; 17:31169892-31169892

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6019C>T; p.L2007F; 17:31336345-31336345

skin; hipmalignant_melanomaSubstitution - Missense

c.8435G>A; p.R2812Q; 17:31374070-31374070

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5951A>G; p.N1984S; 17:31334976-31334976

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5951A>G; p.N1984S; 17:31334976-31334976

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5538G>A; p.R1846R; 17:31327768-31327768

breastcarcinomaSubstitution - coding silent

c.3745_3764del20; p.S1249fs*8; 17:31235647-31235666

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1277G>A; p.W426*; 17:31206256-31206256

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7417A>G; p.M2473V; 17:31350278-31350278

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.681T>C; p.Y227Y; 17:31181736-31181736

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3870+2T>A; p.?; 17:31235774-31235774

soft_tissue; nerve_sheathneurofibromaUnknown

c.4792delA; p.T1598fs*26; 17:31265296-31265296

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1154G>C; p.R385P; 17:31201128-31201128

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.7317A>T; p.L2439F; 17:31349247-31349247

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5680G>C; p.E1894Q; 17:31330366-31330366

breastcarcinomaSubstitution - Missense

c.5545G>A; p.D1849N; 17:31327775-31327775

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.6926delC; p.S2309fs*10; 17:31340509-31340509

central_nervous_system; thalamusglioma; astrocytoma_Grade_IIDeletion - Frameshift

c.3268G>A; p.G1090R; 17:31232143-31232143

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8323A>G; p.N2775D; 17:31360649-31360649

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.574C>T; p.R192*; 17:31169985-31169985

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4600C>T; p.R1534*; 17:31261733-31261733

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.574C>T; p.R192*; 17:31169985-31169985

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1260+1G>TGGGC; p.?; 17:31201486-31201486

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaUnknown

c.4600C>T; p.R1534*; 17:31261733-31261733

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.4578-2A>T; p.?; 17:31261709-31261709

large_intestinecarcinoma; adenocarcinomaUnknown

c.4600C>T; p.R1534*; 17:31261733-31261733

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4600C>T; p.R1534*; 17:31261733-31261733

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.4600C>T; p.R1534*; 17:31261733-31261733

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.4600C>T; p.R1534*; 17:31261733-31261733

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.4600C>T; p.R1534*; 17:31261733-31261733

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiableSubstitution - Nonsense

c.3773G>T; p.W1258L; 17:31235675-31235675

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2833T>C; p.F945L; 17:31229448-31229448

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3719C>G; p.A1240G; 17:31235621-31235621

central_nervous_system; braingliomaSubstitution - Missense

c.4600C>T; p.R1534*; 17:31261733-31261733

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Nonsense

c.1732_1733insT; p.Y580fs*8; 17:31223454-31223455

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.574C>T; p.R192*; 17:31169985-31169985

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.574C>T; p.R192*; 17:31169985-31169985

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.4558C>T; p.Q1520*; 17:31260496-31260496

adrenal_gland; adrenal_glandpheochromocytoma; malignantSubstitution - Nonsense

c.4760T>C; p.L1587S; 17:31265264-31265264

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.740delA; p.K248fs*33; 17:31182517-31182517

biliary_tract; bile_ductcarcinoma; adenocarcinomaDeletion - Frameshift

c.1413_1440del28; p.K471fs*18; 17:31214471-31214498

adrenal_glandpheochromocytomaDeletion - Frameshift

c.574C>T; p.R192*; 17:31169985-31169985

central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Nonsense

c.4558C>T; p.Q1520*; 17:31260496-31260496

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1939C>T; p.H647Y; 17:31225188-31225188

skinmalignant_melanomaSubstitution - Missense

c.574C>T; p.R192*; 17:31169985-31169985

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4600C>T; p.R1534*; 17:31261733-31261733

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.3638_3700>A; p.T1213fs*5; 17:31233143-31233205

adrenal_glandpheochromocytomaComplex - frameshift

c.6704+1G>A; p.?; 17:31337881-31337881

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.2134C>T; p.H712Y; 17:31226567-31226567

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4333_4337delATACT; p.I1445fs*20; 17:31259032-31259036

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.3375G>A; p.A1125A; 17:31232760-31232760

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1185+1G>A; p.?; 17:31201160-31201160

soft_tissue; nerve_sheathneurofibromaUnknown

c.288+1G>C; p.?; 17:31159094-31159094

soft_tissue; nerve_sheathneurofibroma; plexiformUnknown

c.3228A>G; p.V1076V; 17:31232103-31232103

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1185+1G>A; p.?; 17:31201160-31201160

ovarycarcinoma; serous_carcinomaUnknown

c.3144G>A; p.W1048*; 17:31230872-31230872

breastcarcinomaSubstitution - Nonsense

c.221C>A; p.A74D; 17:31159026-31159026

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6472_6473delTT; p.L2158fs*10; 17:31337412-31337413

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.8382C>T; p.I2794I; 17:31374017-31374017

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1186-1G>C; p.?; 17:31201410-31201410

pancreascarcinomaUnknown

c.221C>A; p.A74D; 17:31159026-31159026

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.221C>A; p.A74D; 17:31159026-31159026

large_intestine; coloncarcinomaSubstitution - Missense

c.6070G>T; p.G2024*; 17:31336396-31336396

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.4431-25_4434del29; p.?; 17:31260344-31260372

ovarycarcinoma; serous_carcinomaUnknown

c.3721C>T; p.R1241*; 17:31235623-31235623

skinmalignant_melanomaSubstitution - Nonsense

c.3721C>T; p.R1241*; 17:31235623-31235623

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.3721C>T; p.R1241*; 17:31235623-31235623

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.3406C>T; p.R1136W; 17:31232791-31232791

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6466T>C; p.F2156L; 17:31337406-31337406

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.655G>T; p.A219S; 17:31181710-31181710

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.586G>T; p.E196*; 17:31169997-31169997

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.1186-1G>A; p.?; 17:31201410-31201410

skin; scalpcarcinoma; squamous_cell_carcinomaUnknown

c.6148_6148delG; p.V2050fs*8; 17:31336635-31336635

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.7791A>G; p.S2597S; 17:31357012-31357012

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3721C>T; p.R1241*; 17:31235623-31235623

skinmalignant_melanomaSubstitution - Nonsense

c.3721C>T; p.R1241*; 17:31235623-31235623

adrenal_gland; adrenal_glandpheochromocytoma; malignantSubstitution - Nonsense

c.217G>T; p.E73*; 17:31159022-31159022

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.4054A>G; p.S1352G; 17:31249063-31249063

breastcarcinomaSubstitution - Missense

c.7791A>G; p.S2597S; 17:31357012-31357012

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3406C>T; p.R1136W; 17:31232791-31232791

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7634A>G; p.D2545G; 17:31356478-31356478

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.7458-3C>T; p.?; 17:31352254-31352254

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1301_1302insTCAC; p.V437fs*3; 17:31206280-31206281

soft_tissue; blood_vesselangiosarcomaInsertion - Frameshift

c.2767C>G; p.L923V; 17:31229382-31229382

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1246C>T; p.R416*; 17:31201471-31201471

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.655-1G>T; p.?; 17:31181709-31181709

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.655-1G>T; p.?; 17:31181709-31181709

soft_tissue; nerve_sheathneurofibromaUnknown

c.1246C>T; p.R416*; 17:31201471-31201471

skinmalignant_melanomaSubstitution - Nonsense

c.3163C>T; p.Q1055*; 17:31230891-31230891

skinmalignant_melanomaSubstitution - Nonsense

c.2483_2484insCAGCC; p.L828fs*15; 17:31229098-31229099

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.4958G>T; p.R1653L; 17:31325942-31325942

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.4560G>A; p.Q1520Q; 17:31260498-31260498

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1246C>T; p.R416*; 17:31201471-31201471

large_intestine; rectumNSSubstitution - Nonsense

c.1246C>T; p.R416*; 17:31201471-31201471

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3975_3975delG; p.R1325fs*2; 17:31248984-31248984

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5557A>G; p.T1853A; 17:31327787-31327787

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1400C>T; p.T467I; 17:31214458-31214458

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.839T>C; p.I280T; 17:31182616-31182616

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7431C>A; p.P2477P; 17:31350292-31350292

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1400C>T; p.T467I; 17:31214458-31214458

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.1400C>T; p.T467I; 17:31214458-31214458

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.731_732delAA; p.E244fs*7; 17:31182508-31182509

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.7003A>G; p.T2335A; 17:31340586-31340586

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.236T>A; p.L79*; 17:31159041-31159041

skin; earmalignant_melanomaSubstitution - Nonsense

c.7431C>A; p.P2477P; 17:31350292-31350292

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2990G>T; p.R997M; 17:31229974-31229974

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3667A>G; p.I1223V; 17:31233172-31233172

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7029T>C; p.H2343H; 17:31340612-31340612

kidneyother; neoplasmSubstitution - coding silent

c.2409+1G>A; p.A776_Q803del; 17:31227607-31227607

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - In frame

c.2990G>T; p.R997M; 17:31229974-31229974

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2990G>T; p.R997M; 17:31229974-31229974

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7429C>T; p.P2477S; 17:31350290-31350290

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5401T>G; p.L1801V; 17:31327631-31327631

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.8466G>C; p.Q2822H; 17:31374101-31374101

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7370_7371delAT; p.H2457fs*8; 17:31350231-31350232

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaDeletion - Frameshift

c.1549G>T; p.E517*; 17:31219026-31219026

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5276C>T; p.S1759F; 17:31327506-31327506

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6317T>C; p.V2106A; 17:31336804-31336804

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.7429C>T; p.P2477S; 17:31350290-31350290

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.889A>T; p.K297*; 17:31200422-31200422

livercarcinomaSubstitution - Nonsense

c.4393A>T; p.N1465Y; 17:31259092-31259092

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.889A>T; p.K297*; 17:31200422-31200422

livercarcinomaSubstitution - Nonsense

c.3189T>A; p.C1063*; 17:31230917-31230917

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.2990G>T; p.R997M; 17:31229974-31229974

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3559C>A; p.L1187I; 17:31233064-31233064

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7429C>T; p.P2477S; 17:31350290-31350290

large_intestine; coloncarcinomaSubstitution - Missense

c.1555C>T; p.Q519*; 17:31219032-31219032

skinmalignant_melanomaSubstitution - Nonsense

c.7458G>A; p.?; 17:31352256-31352257

soft_tissue; nerve_sheathneurofibromaUnknown

c.1722-1G>A; p.?; 17:31223443-31223443

adrenal_gland; adrenal_glandpheochromocytoma; benignUnknown

c.586+3_586+85del83; p.?; 17:31170000-31170082

soft_tissue; nerve_sheathneurofibroma; plexiformUnknown

c.3457_3460delCTCA; p.L1153fs*4; 17:31232842-31232845

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5188A>C; p.T1730P; 17:31326172-31326172

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.5311A>T; p.K1771*; 17:31327541-31327541

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.7069G>T; p.E2357*; 17:31343015-31343015

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7139T>G; p.L2380R; 17:31343085-31343085

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1417_1417delA; p.T473fs*25; 17:31214475-31214475

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4392C>G; p.F1464L; 17:31259091-31259091

skinmalignant_melanomaSubstitution - Missense

c.7246C>G; p.L2416V; 17:31349176-31349176

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.5643T>G; p.T1881T; 17:31330329-31330329

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.951_952delAG; p.E318fs*11; 17:31200484-31200485

breastcarcinomaDeletion - Frameshift

c.1444A>G; p.T482A; 17:31214502-31214502

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1774A>G; p.S592G; 17:31223496-31223496

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2088G>A; p.W696*; 17:31226521-31226521

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.6428-2A>G; p.?; 17:31337366-31337366

skinmalignant_melanomaUnknown

c.3198-1G>C; p.?; 17:31232072-31232072

lungcarcinoma; adenocarcinomaUnknown

c.7851G>T; p.A2617A; 17:31357072-31357072

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2987_2988insAC; p.R997fs*16; 17:31229971-31229972

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.2902A>C; p.M968L; 17:31229886-31229886

pleurapulmonary_blastomaSubstitution - Missense

c.2633T>C; p.I878T; 17:31229248-31229248

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8000delC; p.L2668fs*11; 17:31358509-31358509

skin; handmalignant_melanomaDeletion - Frameshift

c.3933_3934delCT; p.S1312fs*1; 17:31235980-31235981

breastcarcinoma; lobular_carcinomaDeletion - Frameshift

c.5523A>G; p.Q1841Q; 17:31327753-31327753

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3197+10G>A; p.?; 17:31230935-31230935

biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.1178A>T; p.H393L; 17:31201152-31201152

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.4998T>C; p.F1666F; 17:31325982-31325982

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3298T>G; p.S1100A; 17:31232173-31232173

ovaryother; neoplasmSubstitution - Missense

c.7739-1G>A; p.?; 17:31356959-31356959

skinmalignant_melanomaUnknown

c.3491_3491delC; p.I1165fs*1; 17:31232876-31232876

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4851A>C; p.Q1617H; 17:31325835-31325835

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.8261C>T; p.S2754F; 17:31360587-31360587

skinmalignant_melanomaSubstitution - Missense

c.6691G>T; p.E2231*; 17:31337867-31337867

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1933A>G; p.M645V; 17:31225182-31225182

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.751G>C; p.D251H; 17:31182528-31182528

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.7549C>T; p.R2517*; 17:31352348-31352348

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.7388T>G; p.L2463R; 17:31350249-31350249

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6691G>T; p.E2231*; 17:31337867-31337867

autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.751G>C; p.D251H; 17:31182528-31182528

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1556A>G; p.Q519R; 17:31219033-31219033

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.8261C>T; p.S2754F; 17:31360587-31360587

skinmalignant_melanomaSubstitution - Missense

c.6850_6853delACTT; p.Y2285fs*5; 17:31338734-31338737

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.6850_6853delACTT; p.Y2285fs*5; 17:31338734-31338737

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1009G>T; p.E337*; 17:31200542-31200542

livercarcinomaSubstitution - Nonsense

c.751G>C; p.D251H; 17:31182528-31182528

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1933A>G; p.M645V; 17:31225182-31225182

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1933A>G; p.M645V; 17:31225182-31225182

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1933A>G; p.M645V; 17:31225182-31225182

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1009G>T; p.E337*; 17:31200542-31200542

livercarcinomaSubstitution - Nonsense

c.2806A>T; p.K936*; 17:31229421-31229421

adrenal_glandpheochromocytomaSubstitution - Nonsense

c.7549C>T; p.R2517*; 17:31352348-31352348

skinmalignant_melanomaSubstitution - Nonsense

c.5687C>T; p.S1896L; 17:31330373-31330373

breastcarcinomaSubstitution - Missense

c.8261C>T; p.S2754F; 17:31360587-31360587

skinmalignant_melanomaSubstitution - Missense

c.1556A>G; p.Q519R; 17:31219033-31219033

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3303_3314+7del19; p.?; 17:31232178-31232189

soft_tissue; nerve_sheathneurofibromaUnknown

c.2234_2235insAGGG; p.S745fs*24; 17:31226667-31226668

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.5845_5863del19; p.M1949fs*2; 17:31334870-31334888

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1933A>G; p.M645V; 17:31225182-31225182

genital_tract; extragonadalgerm_cell_tumour; teratomaSubstitution - Missense

c.2382T>A; p.Y794*; 17:31227579-31227579

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4206C>T; p.I1402I; 17:31258376-31258376

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2445_2445delG; p.R815fs*6; 17:31229060-31229060

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.8057_8058delAG; p.S2687fs*5; 17:31358566-31358567

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.5089_5095delCTGACTG; p.L1697fs*11; 17:31326073-31326079

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4330A>C; p.K1444Q; 17:31258500-31258500

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IIISubstitution - Missense

c.2147A>T; p.E716V; 17:31226580-31226580

breastcarcinomaSubstitution - Missense

c.1700T>G; p.V567G; 17:31221908-31221908

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.1700T>G; p.V567G; 17:31221908-31221908

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.1700T>G; p.V567G; 17:31221908-31221908

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.4206C>T; p.I1402I; 17:31258376-31258376

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4945G>A; p.G1649R; 17:31325929-31325929

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1472A>G; p.Y491C; 17:31214530-31214530

oesophaguscarcinomaSubstitution - Missense

c.3774G>A; p.W1258*; 17:31235676-31235676

skinmalignant_melanomaSubstitution - Nonsense

c.3826C>T; p.R1276*; 17:31235728-31235728

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.158T>A; p.L53*; 17:31156080-31156080

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3826C>T; p.R1276*; 17:31235728-31235728

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.3113+1G>C; p.?; 17:31230383-31230383

soft_tissue; blood_vesselglomus_tumourUnknown

c.4084C>G; p.R1362G; 17:31249093-31249093

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.6691G>C; p.E2231Q; 17:31337867-31337867

pleurapulmonary_blastomaSubstitution - Missense

c.3826C>T; p.R1276*; 17:31235728-31235728

endometriumcarcinoma; serous_carcinomaSubstitution - Nonsense

c.4177_4178delGT; p.V1393fs*1; 17:31258347-31258348

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.3826C>T; p.R1276*; 17:31235728-31235728

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Nonsense

c.3774G>A; p.W1258*; 17:31235676-31235676

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.226_227insG; p.E76fs*31; 17:31159031-31159032

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.6469T>C; p.S2157P; 17:31337409-31337409

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2088delG; p.W696fs*1; 17:31226521-31226521

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4818delT; p.Y1607fs*17; 17:31265322-31265322

soft_tissue; striated_musclerhabdomyosarcomaDeletion - Frameshift

c.2409+1G>A; p.?; 17:31227607-31227607

soft_tissue; nerve_sheathneurofibromaUnknown

c.702G>A; p.L234L; 17:31181757-31181757

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2088delG; p.W696fs*1; 17:31226521-31226521

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.2461A>C; p.S821R; 17:31229076-31229076

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.2461A>C; p.S821R; 17:31229076-31229076

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.4818delT; p.Y1607fs*17; 17:31265322-31265322

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1865G>T; p.C622F; 17:31225114-31225114

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.5084G>A; p.R1695Q; 17:31326068-31326068

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3124_3127GTAG>AT; p.V1042fs*17; 17:31230852-31230855

soft_tissue; nerve_sheathneurofibromaComplex - frameshift

c.5960A>G; p.Q1987R; 17:31334985-31334985

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5831_5834delTTTG; p.C1945fs*4; 17:31334856-31334859

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.8470C>T; p.Q2824*; 17:31374105-31374105

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2896G>A; p.A966T; 17:31229880-31229880

pancreascarcinomaSubstitution - Missense

c.2614G>A; p.E872K; 17:31229229-31229229

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3232_3232delT; p.S1078fs*3; 17:31232107-31232107

adrenal_glandpheochromocytomaDeletion - Frameshift

c.2896G>A; p.A966T; 17:31229880-31229880

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.7085C>T; p.A2362V; 17:31343031-31343031

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4030G>T; p.E1344*; 17:31249039-31249039

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2850G>A; p.Q950Q; 17:31229465-31229465

skinmalignant_melanomaSubstitution - coding silent

c.1170_1170delC; p.N390fs*22; 17:31201144-31201144

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4722_4724+1delTAGG; p.?; 17:31261855-31261858

breastcarcinomaUnknown

c.2251G>T; p.G751*; 17:31226684-31226684

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2848C>T; p.Q950*; 17:31229463-31229463

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.7300_7316del17; p.Q2434fs*8; 17:31349230-31349246

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.3340T>A; p.L1114M; 17:31232725-31232725

skinmalignant_melanomaSubstitution - Missense

c.4061C>T; p.S1354F; 17:31249070-31249070

skin; backmalignant_melanomaSubstitution - Missense

c.4489_4493delTCCTT; p.S1497fs*3; 17:31260427-31260431

autonomic_ganglianeuroblastomaDeletion - Frameshift

c.3419C>A; p.S1140*; 17:31232804-31232804

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.169G>A; p.G57S; 17:31156091-31156091

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5743C>T; p.L1915L; 17:31330429-31330429

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3975-1G>A; p.?; 17:31248983-31248983

central_nervous_system; braingliomaUnknown

c.3419C>A; p.S1140*; 17:31232804-31232804

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.6101C>T; p.T2034I; 17:31336427-31336427

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4875C>A; p.Y1625*; 17:31325859-31325859

skinmalignant_melanomaSubstitution - Nonsense

c.1246C>A; p.R416R; 17:31201471-31201471

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4938C>T; p.T1646T; 17:31325922-31325922

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3521delA; p.Q1174fs*10; 17:31233026-31233026

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaDeletion - Frameshift

c.205-1G>A; p.?; 17:31159009-31159009

skinmalignant_melanomaUnknown

c.7790C>A; p.S2597*; 17:31357011-31357011

soft_tissue; blood_vesselglomus_tumourSubstitution - Nonsense

c.7796C>T; p.S2599F; 17:31357017-31357017

skinmalignant_melanomaSubstitution - Missense

c.6818A>C; p.K2273T; 17:31338138-31338138

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.4548G>A; p.E1516E; 17:31260486-31260486

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3376C>T; p.Q1126*; 17:31232761-31232761

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1947A>G; p.E649E; 17:31225196-31225196

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2889A>C; p.Q963H; 17:31229873-31229873

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6818A>C; p.K2273T; 17:31338138-31338138

stomachadenocarcinomaSubstitution - Missense

c.1577T>G; p.I526S; 17:31219054-31219054

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.6796C>T; p.Q2266*; 17:31338116-31338116

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.4766C>T; p.T1589M; 17:31265270-31265270

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1797G>A; p.W599*; 17:31223519-31223519

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7645T>C; p.S2549P; 17:31356489-31356489

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8044C>T; p.H2682Y; 17:31358553-31358553

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7304G>A; p.S2435N; 17:31349234-31349234

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.7645T>C; p.S2549P; 17:31356489-31356489

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1721+7G>A; p.?; 17:31221936-31221936

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2443_2444insGG; p.R816fs*6; 17:31229058-31229059

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.5177T>G; p.L1726R; 17:31326161-31326161

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6819+3A>G; p.?; 17:31338142-31338142

lungcarcinoma; squamous_cell_carcinomaUnknown

c.3772T>C; p.W1258R; 17:31235674-31235674

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7456_7456delA; p.R2486fs*3; 17:31350317-31350317

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.5961G>T; p.Q1987H; 17:31334986-31334986

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8223G>A; p.T2741T; 17:31360549-31360549

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2786T>C; p.L929P; 17:31229401-31229401

skinmalignant_melanomaSubstitution - Missense

c.5455G>A; p.A1819T; 17:31327685-31327685

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3039G>A; p.T1013T; 17:31230308-31230308

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3039G>A; p.T1013T; 17:31230308-31230308

skinmalignant_melanomaSubstitution - coding silent

c.3039G>A; p.T1013T; 17:31230308-31230308

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2556C>T; p.L852L; 17:31229171-31229171

breastcarcinomaSubstitution - coding silent

c.3039G>A; p.T1013T; 17:31230308-31230308

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.467G>A; p.R156H; 17:31163364-31163364

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3772T>C; p.W1258R; 17:31235674-31235674

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3772T>C; p.W1258R; 17:31235674-31235674

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6473T>G; p.L2158*; 17:31337413-31337413

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.1318_1319CG>TA; p.R440>?; 17:31206297-31206298

large_intestine; rectumcarcinoma; adenocarcinomaComplex

c.7780C>T; p.R2594C; 17:31357001-31357001

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3039G>A; p.T1013T; 17:31230308-31230308

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3311T>G; p.L1104R; 17:31232186-31232186

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.7989_7990insT; p.K2664fs*1; 17:31358498-31358499

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasmInsertion - Frameshift

c.4803_4804insG; p.N1603fs*19; 17:31265307-31265308

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.8223G>A; p.T2741T; 17:31360549-31360549

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4022A>T; p.Q1341L; 17:31249031-31249031

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1641+1G>T; p.?; 17:31219119-31219119

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.7079T>G; p.F2360C; 17:31343025-31343025

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5014G>A; p.D1672N; 17:31325998-31325998

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5375_5376ins49; p.L1793fs*5; 17:31327605-31327606

adrenal_glandpheochromocytomaInsertion - Frameshift

c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaDeletion - Frameshift

c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739

central_nervous_system; cerebellumglioma; astrocytoma_Grade_IDeletion - Frameshift

c.6852_6855delTTAC; p.Y2285fs*5; 17:31338736-31338739

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.7452C>A; p.S2484S; 17:31350313-31350313

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3047_3048delGT; p.C1016fs*4; 17:31230316-31230317

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.8036A>G; p.N2679S; 17:31358545-31358545

breastcarcinomaSubstitution - Missense

c.3806_3807insC; p.S1270fs*14; 17:31235708-31235709

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.7802C>G; p.S2601*; 17:31357023-31357023

breastcarcinomaSubstitution - Nonsense

c.943C>T; p.Q315*; 17:31200476-31200476

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.6006G>A; p.Q2002Q; 17:31335031-31335031

ovaryother; neoplasmSubstitution - coding silent

c.4459C>T; p.P1487S; 17:31260397-31260397

skinmalignant_melanomaSubstitution - Missense

c.2742G>A; p.R914R; 17:31229357-31229357

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3306_3307insA; p.F1103fs*3; 17:31232181-31232182

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.4638G>C; p.L1546L; 17:31261771-31261771

ovaryother; neoplasmSubstitution - coding silent

c.3065T>C; p.M1022T; 17:31230334-31230334

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1007_1008GG>AA; p.W336*; 17:31200540-31200541

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4237T>G; p.F1413V; 17:31258407-31258407

livercarcinomaSubstitution - Missense

c.5880C>A; p.C1960*; 17:31334905-31334905

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.1381C>A; p.R461R; 17:31206360-31206360

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.62T>G; p.L21R; 17:31155984-31155984

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Missense

c.7190-3T>G; p.?; 17:31349117-31349117

soft_tissue; nerve_sheathneurofibromaUnknown

c.5306G>A; p.R1769Q; 17:31327536-31327536

livercarcinomaSubstitution - Missense

c.288G>A; p.G96G; 17:31159093-31159093

skinmalignant_melanomaSubstitution - coding silent

c.6643-8delT; p.?; 17:31337811-31337811

stomachadenocarcinomaUnknown

c.4700C>G; p.S1567*; 17:31261833-31261833

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.3474_3486del13; p.S1159fs*3; 17:31232859-31232871

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1382_1383insCCCC; p.M462fs*9; 17:31206361-31206362

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.1007G>T; p.W336L; 17:31200540-31200540

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7971-1G>T; p.?; 17:31358479-31358479

breastcarcinomaUnknown

c.3560T>C; p.L1187P; 17:31233065-31233065

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1649T>C; p.L550P; 17:31221857-31221857

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3560T>C; p.L1187P; 17:31233065-31233065

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1649T>C; p.L550P; 17:31221857-31221857

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1180_1181delTT; p.F394fs*1; 17:31201154-31201155

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.2702_2703insGTCG; p.M902fs*5; 17:31229317-31229318

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.1339C>T; p.L447F; 17:31206318-31206318

urinary_tract; bladdercarcinomaSubstitution - Missense

c.392_408del17; p.A131fs*19; 17:31163289-31163305

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.1062+1G>A; p.?; 17:31200596-31200596

soft_tissue; nerve_sheathneurofibromaUnknown

c.5365G>A; p.E1789K; 17:31327595-31327595

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1062+1G>A; p.?; 17:31200596-31200596

soft_tissue; nerve_sheathneurofibromaUnknown

c.6550G>A; p.D2184N; 17:31337490-31337490

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5768C>T; p.T1923M; 17:31330454-31330454

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1032A>G; p.L344L; 17:31200565-31200565

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1811T>A; p.L604*; 17:31223533-31223533

skinmalignant_melanomaSubstitution - Nonsense

c.1062+1G>A; p.?; 17:31200596-31200596

soft_tissue; nerve_sheathneurofibromaUnknown

c.2693T>G; p.L898R; 17:31229308-31229308

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.4330A>G; p.K1444E; 17:31258500-31258500

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.527_529delATA; p.D176_I177>V; 17:31169938-31169940

breastcarcinomaComplex - deletion inframe

c.4330A>G; p.K1444E; 17:31258500-31258500

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5454A>G; p.E1818E; 17:31327684-31327684

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.7850C>T; p.A2617V; 17:31357071-31357071

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7850C>T; p.A2617V; 17:31357071-31357071

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.7850C>T; p.A2617V; 17:31357071-31357071

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.466_467delCG; p.R156fs*17; 17:31163363-31163364

stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.4330A>G; p.K1444E; 17:31258500-31258500

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7850C>T; p.A2617V; 17:31357071-31357071

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4612A>T; p.K1538*; 17:31261745-31261745

central_nervous_system; thalamusglioma; astrocytoma_Grade_IISubstitution - Nonsense

c.8511G>T; p.K2837N; 17:31374146-31374146

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7906_7918del13; p.Q2636fs*4; 17:31357305-31357317

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.7430C>A; p.P2477H; 17:31350291-31350291

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7013T>A; p.L2338H; 17:31340596-31340596

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.(3114-50)delTG; p.?; 17:31230792-31230793

large_intestinecarcinoma; adenocarcinomaUnknown

c.1884C>T; p.Y628Y; 17:31225133-31225133

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5201A>T; p.E1734V; 17:31326185-31326185

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8405C>T; p.S2802F; 17:31374040-31374040

skin; facemalignant_melanomaSubstitution - Missense

c.5792_5792delT; p.S1932fs*10; 17:31330478-31330478

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.2375T>A; p.L792H; 17:31227572-31227572

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3737_3740delTGTT; p.F1247fs*18; 17:31235639-31235642

breastcarcinomaDeletion - Frameshift

c.1381_1382insTT; p.R461fs*13; 17:31206360-31206361

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.4266T>G; p.Y1422*; 17:31258436-31258436

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.7970+1G>T; p.?; 17:31357370-31357370

pancreascarcinomaUnknown

c.2135A>G; p.H712R; 17:31226568-31226568

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3870+1G>T; p.?; 17:31235773-31235773

lungcarcinoma; adenocarcinomaUnknown

c.5851delC; p.P1951fs*6; 17:31334876-31334876

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.7008A>G; p.A2336A; 17:31340591-31340591

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.8132_8133insT; p.L2711fs*19; 17:31358987-31358988

central_nervous_system; braingliomaInsertion - Frameshift

c.3280_3283delGAAT; p.E1094fs*1; 17:31232155-31232158

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.3942G>A; p.W1314*; 17:31235989-31235989

central_nervous_system; braingliomaSubstitution - Nonsense

c.6471A>G; p.S2157S; 17:31337411-31337411

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5490C>A; p.R1830R; 17:31327720-31327720

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1866T>A; p.C622*; 17:31225115-31225115

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1179_1180delCT; p.F394fs*1; 17:31201153-31201154

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1481T>A; p.L494*; 17:31214539-31214539

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1866T>A; p.C622*; 17:31225115-31225115

skin; breastmalignant_melanomaSubstitution - Nonsense

c.1528_1641del114; p.N510_E547del; 17:31219005-31219118

soft_tissue; nerve_sheathneurofibroma; plexiformDeletion - In frame

c.3497-5A>G; p.?; 17:31232997-31232997

livercarcinomaUnknown

c.5489G>A; p.R1830H; 17:31327719-31327719

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1570G>C; p.E524Q; 17:31219047-31219047

breastcarcinomaSubstitution - Missense

c.2325+2_2325+3insG; p.?; 17:31227293-31227294

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.3497-5A>G; p.?; 17:31232997-31232997

livercarcinomaUnknown

c.534_535delAT; p.E178fs*22; 17:31169945-31169946

breastcarcinomaDeletion - Frameshift

c.4936A>T; p.T1646S; 17:31325920-31325920

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.7790C>T; p.S2597L; 17:31357011-31357011

soft_tissue; fibrous_tissue_and_uncertain_ofibrosarcoma; myxofibrosarcomaSubstitution - Missense

c.4937C>T; p.T1646I; 17:31325921-31325921

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.859G>A; p.D287N; 17:31182636-31182636

pancreascarcinomaSubstitution - Missense

c.1182T>C; p.F394F; 17:31201156-31201156

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.4048A>G; p.I1350V; 17:31249057-31249057

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1247G>A; p.R416Q; 17:31201472-31201472

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5190C>A; p.T1730T; 17:31326174-31326174

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.273A>G; p.E91E; 17:31159078-31159078

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4703A>G; p.K1568R; 17:31261836-31261836

thyroidcarcinomaSubstitution - Missense

c.7159_7164delAACTTT; p.N2387_F2388del; 17:31343105-31343110

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - In frame

c.6746_6748delTTG; p.V2250del; 17:31338066-31338068

central_nervous_system; thalamusglioma; astrocytoma_Grade_IVDeletion - In frame

c.821T>G; p.L274R; 17:31182598-31182598

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.4986G>A; p.W1662*; 17:31325970-31325970

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.2850+1G>A; p.?; 17:31229466-31229466

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.5200G>T; p.E1734*; 17:31326184-31326184

breastcarcinomaSubstitution - Nonsense

c.1661A>G; p.Q554R; 17:31221869-31221869

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.820C>T; p.L274F; 17:31182597-31182597

skinmalignant_melanomaSubstitution - Missense

c.4535G>T; p.W1512L; 17:31260473-31260473

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.4451C>T; p.S1484F; 17:31260389-31260389

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.2850+1G>A; p.?; 17:31229466-31229466

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1696C>G; p.P566A; 17:31221904-31221904

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3757_3764delCTCTACCA; p.L1253fs*8; 17:31235659-31235666

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4804G>A; p.G1602R; 17:31265308-31265308

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5812+2T>A; p.?; 17:31330500-31330500

lungcarcinoma; adenocarcinomaUnknown

c.4021C>T; p.Q1341*; 17:31249030-31249030

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.5025C>A; p.S1675S; 17:31326009-31326009

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.8474G>C; p.R2825T; 17:31374109-31374109

urinary_tract; bladdercarcinomaSubstitution - Missense

c.6488T>A; p.L2163*; 17:31337428-31337428

central_nervous_system; braingliomaSubstitution - Nonsense

c.1724_1727delCACA; p.S575fs*1; 17:31223446-31223449

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.848A>G; p.D283G; 17:31182625-31182625

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1681T>C; p.W561R; 17:31221889-31221889

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.241C>G; p.L81V; 17:31159046-31159046

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5330_5333delTCTT; p.F1778fs*1; 17:31327560-31327563

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.6284_6285insT; p.V2096fs*24; 17:31336771-31336772

ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.480_480delG; p.R160fs*5; 17:31169891-31169891

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4526G>A; p.R1509H; 17:31260464-31260464

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.3975-2A>T; p.?; 17:31248982-31248982

skinmalignant_melanomaUnknown

c.3975-2A>T; p.?; 17:31248982-31248982

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.252_270del19; p.I85fs*12; 17:31159057-31159075

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.784C>T; p.R262C; 17:31182561-31182561

skinmalignant_melanomaSubstitution - Missense

c.272A>G; p.E91G; 17:31159077-31159077

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4564_4565delCT; p.L1522fs*7; 17:31260502-31260503

soft_tissue; nerve_sheathneurofibroma; plexiformDeletion - Frameshift

c.8035A>G; p.N2679D; 17:31358544-31358544

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.272A>G; p.E91G; 17:31159077-31159077

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3120G>A; p.K1040K; 17:31230848-31230848

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1660C>G; p.Q554E; 17:31221868-31221868

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.8027A>G; p.N2676S; 17:31358536-31358536

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1340T>C; p.L447P; 17:31206319-31206319

adrenal_glandpheochromocytomaSubstitution - Missense

c.7511_7511delT; p.A2505fs*18; 17:31352310-31352310

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5270T>A; p.V1757D; 17:31327500-31327500

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Missense

c.4977_4980delCTCT; p.S1660fs*37; 17:31325961-31325964

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.7116G>T; p.K2372N; 17:31343062-31343062

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4030G>A; p.E1344K; 17:31249039-31249039

urinary_tract; bladdercarcinomaSubstitution - Missense

c.7896_7897TG>GT; p.D2632E; 17:31357295-31357296

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7582C>T; p.Q2528*; 17:31352381-31352381

adrenal_gland; adrenal_glandpheochromocytoma; benignSubstitution - Nonsense

c.1997C>G; p.S666C; 17:31225246-31225246

urinary_tract; bladdercarcinomaSubstitution - Missense

c.575G>A; p.R192Q; 17:31169986-31169986

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4030G>A; p.E1344K; 17:31249039-31249039

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.5837T>A; p.L1946*; 17:31334862-31334862

genital_tract; extragonadalgerm_cell_tumour; yolk_sac_tumourSubstitution - Nonsense

c.3992G>A; p.S1331N; 17:31249001-31249001

pancreascarcinomaSubstitution - Missense

c.3330delT; p.F1110fs*2; 17:31232715-31232715

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.8087C>A; p.P2696Q; 17:31358596-31358596

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.403C>T; p.R135W; 17:31163300-31163300

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3125T>A; p.V1042E; 17:31230853-31230853

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.403C>T; p.R135W; 17:31163300-31163300

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2970_2970delA; p.M991fs*1; 17:31229954-31229954

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.5435T>C; p.F1812S; 17:31327665-31327665

livercarcinomaSubstitution - Missense

c.7781G>A; p.R2594H; 17:31357002-31357002

pancreascarcinomaSubstitution - Missense

c.911_911delG; p.R304fs*13; 17:31200444-31200444

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaDeletion - Frameshift

c.7781G>A; p.R2594H; 17:31357002-31357002

pancreascarcinomaSubstitution - Missense

c.403C>T; p.R135W; 17:31163300-31163300

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.8087C>A; p.P2696Q; 17:31358596-31358596

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.3576A>C; p.E1192D; 17:31233081-31233081

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.403C>T; p.R135W; 17:31163300-31163300

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5104G>T; p.G1702C; 17:31326088-31326088

ovarycarcinoma; adenocarcinomaSubstitution - Missense

c.403C>T; p.R135W; 17:31163300-31163300

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7781G>A; p.R2594H; 17:31357002-31357002

pancreascarcinomaSubstitution - Missense

c.3574G>T; p.E1192*; 17:31233079-31233079

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.999C>G; p.Y333*; 17:31200532-31200532

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.3548T>C; p.L1183P; 17:31233053-31233053

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2187T>A; p.H729Q; 17:31226620-31226620

skinmalignant_melanomaSubstitution - Missense

c.7238_7238delT; p.L2413fs*5; 17:31349168-31349168

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.242T>G; p.L81R; 17:31159047-31159047

livercarcinomaSubstitution - Missense

c.3478G>T; p.G1160C; 17:31232863-31232863

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3050A>T; p.Q1017L; 17:31230319-31230319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3250C>T; p.P1084S; 17:31232125-31232125

skinmalignant_melanomaSubstitution - Missense

c.1448A>G; p.D483G; 17:31214506-31214506

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.3645G>A; p.M1215I; 17:31233150-31233150

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1448A>G; p.D483G; 17:31214506-31214506

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.1448A>G; p.D483G; 17:31214506-31214506

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.7171G>T; p.V2391F; 17:31343117-31343117

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7501delG; p.E2501fs*22; 17:31352300-31352300

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.2533_2533delT; p.C845fs*33; 17:31229148-31229148

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.5645G>T; p.C1882F; 17:31330331-31330331

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5645G>A; p.C1882Y; 17:31330331-31330331

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2939_2958del20; p.S980fs*1; 17:31229923-31229942

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.6745C>T; p.L2249F; 17:31338065-31338065

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.2032_2033insC; p.I679fs*21; 17:31226465-31226466

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2446C>T; p.R816*; 17:31229061-31229061

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.8514C>T; p.I2838I; 17:31374149-31374149

skinmalignant_melanomaSubstitution - coding silent

c.6519T>G; p.A2173A; 17:31337459-31337459

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.8514C>T; p.I2838I; 17:31374149-31374149

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2498C>T; p.S833F; 17:31229113-31229113

skinmalignant_melanomaSubstitution - Missense

c.988G>C; p.A330P; 17:31200521-31200521

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.2446C>T; p.R816*; 17:31229061-31229061

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Nonsense

c.2446C>T; p.R816*; 17:31229061-31229061

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.2446C>T; p.R816*; 17:31229061-31229061

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.6684_6688delGTGGA; p.Q2228fs*12; 17:31337860-31337864

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.6804C>T; p.I2268I; 17:31338124-31338124

skinmalignant_melanomaSubstitution - coding silent

c.3936_3939delTGAT; p.D1313fs*13; 17:31235983-31235986

skin; acralmalignant_melanomaDeletion - Frameshift

c.240T>A; p.Y80*; 17:31159045-31159045

skinmalignant_melanomaSubstitution - Nonsense

c.1949T>A; p.L650*; 17:31225198-31225198

skin; solemalignant_melanoma; acral_lentiginousSubstitution - Nonsense

c.7190-44_7237del92; p.?; 17:31349076-31349167

soft_tissue; nerve_sheathneurofibromaUnknown

c.539T>A; p.L180*; 17:31169950-31169950

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Nonsense

c.2313A>G; p.A771A; 17:31227279-31227279

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1949T>A; p.L650*; 17:31225198-31225198

central_nervous_system; braingliomaSubstitution - Nonsense

c.3610C>T; p.R1204W; 17:31233115-31233115

skinmalignant_melanomaSubstitution - Missense

c.627G>T; p.Q209H; 17:31181462-31181462

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.6819+1G>C; p.?; 17:31338140-31338140

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.7062+6C>A; p.?; 17:31340651-31340651

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.3610C>T; p.R1204W; 17:31233115-31233115

ovaryother; neoplasmSubstitution - Missense

c.627G>T; p.Q209H; 17:31181462-31181462

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4750_4754delTTCAA; p.F1584fs*36; 17:31265254-31265258

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5674T>G; p.L1892V; 17:31330360-31330360

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.222T>C; p.A74A; 17:31159027-31159027

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2843delA; p.G949fs*5; 17:31229458-31229458

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.222T>C; p.A74A; 17:31159027-31159027

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.403delC; p.R135fs*30; 17:31163300-31163300

soft_tissue; blood_vesselglomus_tumourDeletion - Frameshift

c.8428A>G; p.S2810G; 17:31374063-31374063

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7789T>C; p.S2597P; 17:31357010-31357010

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7789T>C; p.S2597P; 17:31357010-31357010

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.8428A>G; p.S2810G; 17:31374063-31374063

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.5671C>T; p.Q1891*; 17:31330357-31330357

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.6007-1G>T; p.?; 17:31336332-31336332

lungcarcinoma; squamous_cell_carcinomaUnknown

c.7789T>C; p.S2597P; 17:31357010-31357010

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6640G>T; p.E2214*; 17:31337580-31337580

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.8235A>G; p.G2745G; 17:31360561-31360561

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2830_2831insT; p.D946fs*1; 17:31229445-31229446

stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.3855G>T; p.M1285I; 17:31235757-31235757

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7867C>T; p.L2623L; 17:31357088-31357088

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4486C>A; p.L1496I; 17:31260424-31260424

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5705C>A; p.A1902D; 17:31330391-31330391

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7762C>T; p.Q2588*; 17:31356983-31356983

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7762C>T; p.Q2588*; 17:31356983-31356983

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7435C>G; p.H2479D; 17:31350296-31350296

livercarcinomaSubstitution - Missense

c.911G>T; p.R304L; 17:31200444-31200444

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7231A>T; p.R2411*; 17:31349161-31349161

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.8235A>T; p.G2745G; 17:31360561-31360561

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.7435C>G; p.H2479D; 17:31350296-31350296

livercarcinomaSubstitution - Missense

c.4984T>C; p.W1662R; 17:31325968-31325968

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7533C>T; p.V2511V; 17:31352332-31352332

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1603C>A; p.Q535K; 17:31219080-31219080

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3568_3647del80; p.G1190fs*1; 17:31233073-31233152

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.174C>T; p.L58L; 17:31156096-31156096

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3607G>C; p.D1203H; 17:31233112-31233112

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3607G>C; p.D1203H; 17:31233112-31233112

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1270G>A; p.D424N; 17:31206249-31206249

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1642-2A>T; p.?; 17:31221848-31221848

lungcarcinoma; adenocarcinomaUnknown

c.819C>T; p.L273L; 17:31182596-31182596

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.647T>C; p.L216P; 17:31181482-31181482

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3974+2T>C; p.?; 17:31236023-31236023

breastcarcinomaUnknown

c.18G>C; p.P6P; 17:31095327-31095327

pancreascarcinomaSubstitution - coding silent

c.4782C>G; p.Y1594*; 17:31265286-31265286

ovaryother; neoplasmSubstitution - Nonsense

c.3871-1G>T; p.?; 17:31235917-31235917

soft_tissue; nerve_sheathneurofibroma; plexiformUnknown

c.7100T>A; p.L2367Q; 17:31343046-31343046

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6377T>C; p.V2126A; 17:31336864-31336864

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.6377T>C; p.V2126A; 17:31336864-31336864

livercarcinomaSubstitution - Missense

c.2703A>C; p.L901F; 17:31229318-31229318

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.3709-2A>G; p.?; 17:31235609-31235609

soft_tissue; nerve_sheathneurofibromaUnknown

c.3709-2A>G; p.?; 17:31235609-31235609

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.6400T>C; p.C2134R; 17:31336887-31336887

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6511A>T; p.K2171*; 17:31337451-31337451

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.6855C>A; p.Y2285*; 17:31338739-31338739

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Nonsense

c.1381C>T; p.R461*; 17:31206360-31206360

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.7213A>G; p.I2405V; 17:31349143-31349143

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3694C>G; p.P1232A; 17:31233199-31233199

skinmalignant_melanomaSubstitution - Missense

c.1641+1G>A; p.?; 17:31219118-31219118

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.5852C>T; p.P1951L; 17:31334877-31334877

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1381C>T; p.R461*; 17:31206360-31206360

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1381C>T; p.R461*; 17:31206360-31206360

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1381C>T; p.R461*; 17:31206360-31206360

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Nonsense

c.1381C>T; p.R461*; 17:31206360-31206360

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4333-1G>T; p.?; 17:31259031-31259031

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.5852C>T; p.P1951L; 17:31334877-31334877

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4333-1G>T; p.?; 17:31259031-31259031

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.5852C>T; p.P1951L; 17:31334877-31334877

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2740C>T; p.R914W; 17:31229355-31229355

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5852C>T; p.P1951L; 17:31334877-31334877

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1381C>T; p.R461*; 17:31206360-31206360

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.5941A>G; p.M1981V; 17:31334966-31334966

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6855C>A; p.Y2285*; 17:31338739-31338739

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1381C>T; p.R461*; 17:31206360-31206360

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.6927delG; p.P2310fs*9; 17:31340510-31340510

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.396_403delTGAACTTC; p.L134fs*19; 17:31163293-31163300

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5839G>T; p.E1947*; 17:31334864-31334864

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1713G>A; p.W571*; 17:31221921-31221921

breastcarcinomaSubstitution - Nonsense

c.6280delC; p.D2095fs*16; 17:31336767-31336767

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.1813A>T; p.I605F; 17:31223535-31223535

stomachcarcinoma; adenocarcinomaSubstitution - Missense

p.?; 17:31227188-31227212

soft_tissue; nerve_sheathneurofibromaUnknown

c.532_558del27; p.E178_D186del; 17:31169943-31169969

soft_tissue; nerve_sheathneurofibroma; plexiformDeletion - In frame

c.2252-31A>T; p.?; 17:31227187-31227187

large_intestinecarcinoma; adenocarcinomaUnknown

c.2534_2557del24; p.C845_Q853>*; 17:31229149-31229172

soft_tissue; nerve_sheathneurofibromaComplex - deletion inframe

c.624G>A; p.A208A; 17:31181459-31181459

pancreascarcinomaSubstitution - coding silent

c.5410G>A; p.A1804T; 17:31327640-31327640

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.580_580delC; p.L194fs*1; 17:31169991-31169991

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.7349G>A; p.R2450Q; 17:31350210-31350210

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4529_4529delT; p.L1510fs*64; 17:31260467-31260467

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.678T>C; p.N226N; 17:31181733-31181733

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.6467T>C; p.F2156S; 17:31337407-31337407

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6863_6864delAA; p.Q2288fs*18; 17:31338747-31338748

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.4235G>T; p.R1412I; 17:31258405-31258405

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5509G>A; p.D1837N; 17:31327739-31327739

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5509G>A; p.D1837N; 17:31327739-31327739

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6508G>C; p.V2170L; 17:31337448-31337448

central_nervous_system; braingliomaSubstitution - Missense

c.748delT; p.F250fs*31; 17:31182525-31182525

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4107C>A; p.Y1369*; 17:31249116-31249116

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.2515A>G; p.N839D; 17:31229130-31229130

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5608_5609CG>AGAGTTTACG; p.S1871fs*13; 17:31327838-31327839

soft_tissue; blood_vesselglomus_tumourComplex - frameshift

c.2032C>A; p.P678T; 17:31226465-31226465

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.7458-1G>T; p.?; 17:31352256-31352256

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2855T>A; p.L952*; 17:31229839-31229839

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.1307C>A; p.S436*; 17:31206286-31206286

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.7415C>A; p.P2472H; 17:31350276-31350276

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5609G>A; p.R1870Q; 17:31327839-31327839

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7415C>A; p.P2472H; 17:31350276-31350276

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5609G>A; p.R1870Q; 17:31327839-31327839

central_nervous_system; braingliomaSubstitution - Missense

c.4796C>T; p.S1599F; 17:31265300-31265300

skinmalignant_melanomaSubstitution - Missense

c.5609G>A; p.R1870Q; 17:31327839-31327839

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7415C>A; p.P2472H; 17:31350276-31350276

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.5609G>A; p.R1870Q; 17:31327839-31327839

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7415C>A; p.P2472H; 17:31350276-31350276

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.103A>G; p.S35G; 17:31156025-31156025

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.7682C>T; p.S2561L; 17:31356526-31356526

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7415C>A; p.P2472H; 17:31350276-31350276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2233A>G; p.S745G; 17:31226666-31226666

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.8003T>A; p.L2668Q; 17:31358512-31358512

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2425C>T; p.H809Y; 17:31229040-31229040

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7415C>A; p.P2472H; 17:31350276-31350276

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7123G>C; p.D2375H; 17:31343069-31343069

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.7815G>T; p.L2605F; 17:31357036-31357036

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8122T>G; p.F2708V; 17:31358977-31358977

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3545T>C; p.V1182A; 17:31233050-31233050

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2815delA; p.N939fs*15; 17:31229430-31229430

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4875C>G; p.Y1625*; 17:31325859-31325859

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.1876_1877insT; p.Y628fs*6; 17:31225125-31225126

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.5459T>G; p.I1820S; 17:31327689-31327689

livercarcinomaSubstitution - Missense

c.1954C>T; p.R652C; 17:31225203-31225203

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4806delG; p.N1603fs*21; 17:31265310-31265310

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5551C>T; p.P1851S; 17:31327781-31327781

skinmalignant_melanomaSubstitution - Missense

c.6327C>T; p.F2109F; 17:31336814-31336814

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4663_4663delG; p.A1555fs*19; 17:31261796-31261796

adrenal_gland; adrenal_glandpheochromocytomaDeletion - Frameshift

c.3545T>C; p.V1182A; 17:31233050-31233050

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2766T>C; p.G922G; 17:31229381-31229381

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1186-2A>G; p.?; 17:31201409-31201409

lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.4594G>A; p.G1532R; 17:31261727-31261727

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2448A>G; p.R816R; 17:31229063-31229063

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6541A>G; p.S2181G; 17:31337481-31337481

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.8210C>T; p.A2737V; 17:31360536-31360536

skinmalignant_melanomaSubstitution - Missense

c.2448A>G; p.R816R; 17:31229063-31229063

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3721C>A; p.R1241R; 17:31235623-31235623

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5373C>T; p.I1791I; 17:31327603-31327603

skinmalignant_melanomaSubstitution - coding silent

c.6343C>A; p.P2115T; 17:31336830-31336830

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.334C>T; p.Q112*; 17:31163231-31163231

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.4643_4653del11; p.P1548fs*12; 17:31261776-31261786

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.5612C>G; p.S1871*; 17:31330298-31330298

central_nervous_system; medullaglioma; oligodendroglioma_Grade_IIISubstitution - Nonsense

c.2004T>C; p.D668D; 17:31226437-31226437

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.4589C>A; p.A1530D; 17:31261722-31261722

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2246C>G; p.S749*; 17:31226679-31226679

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.487G>T; p.E163*; 17:31169898-31169898

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.905G>A; p.S302N; 17:31200438-31200438

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.4082_4083insT; p.R1362fs*18; 17:31249091-31249092

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.4384C>T; p.R1462W; 17:31259083-31259083

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3586_3587insT; p.A1197fs*7; 17:31233091-31233092

lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.6906delG; p.Q2302fs*17; 17:31338790-31338790

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.7805A>T; p.N2602I; 17:31357026-31357026

skin; lower_legmalignant_melanomaSubstitution - Missense

c.2851G>T; p.V951F; 17:31229835-31229835

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.479G>T; p.R160M; 17:31163376-31163376

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3748C>T; p.R1250W; 17:31235650-31235650

breastcarcinomaSubstitution - Missense

c.1603C>T; p.Q535*; 17:31219080-31219080

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.3821T>A; p.L1274H; 17:31235723-31235723

skinmalignant_melanomaSubstitution - Missense

c.4082_4083insT; p.R1362fs*18; 17:31249091-31249092

soft_tissue; nerve_sheathneurofibroma; plexiformInsertion - Frameshift

c.4880T>A; p.V1627D; 17:31325864-31325864

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.683C>T; p.P228L; 17:31181738-31181738

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5521C>A; p.Q1841K; 17:31327751-31327751

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5521C>A; p.Q1841K; 17:31327751-31327751

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1642-1G>A; p.?; 17:31221849-31221849

skinmalignant_melanomaUnknown

c.7075_7076insT; p.F2360fs*26; 17:31340595-31340596

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaInsertion - Frameshift

c.935G>C; p.G312A; 17:31200468-31200468

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5521C>A; p.Q1841K; 17:31327751-31327751

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.246_247delTC; p.Q83fs*23; 17:31159051-31159052

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.187_188insT; p.K63fs*4; 17:31156109-31156110

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.5261C>T; p.S1754F; 17:31326245-31326245

skinmalignant_melanomaSubstitution - Missense

c.3624G>T; p.L1208F; 17:31233129-31233129

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4110+1G>A; p.?; 17:31249120-31249120

lungcarcinoma; adenocarcinomaUnknown

c.2266C>T; p.Q756*; 17:31227232-31227232

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2266C>T; p.Q756*; 17:31227232-31227232

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7063-1G>T; p.?; 17:31343008-31343008

ovarycarcinoma; serous_carcinomaUnknown

c.2326G>A; p.A776T; 17:31227523-31227523

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.5444A>G; p.Q1815R; 17:31327674-31327674

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1358G>T; p.G453V; 17:31206337-31206337

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.1641+1G>A; p.?; 17:31219119-31219119

soft_tissue; nerve_sheathneurofibromaUnknown

c.4768T>C; p.L1590L; 17:31265272-31265272

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3449C>T; p.S1150L; 17:31232834-31232834

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.6563C>T; p.S2188F; 17:31337503-31337503

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.410C>T; p.S137F; 17:31163307-31163307

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6050C>T; p.T2017I; 17:31336376-31336376

skin; trunkmalignant_melanomaSubstitution - Missense

c.744G>C; p.K248N; 17:31182521-31182521

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2163_2164insT; p.G722fs*4; 17:31226596-31226597

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.109G>A; p.E37K; 17:31156031-31156031

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.410C>T; p.S137F; 17:31163307-31163307

lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.4768T>C; p.L1590L; 17:31265272-31265272

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4768T>C; p.L1590L; 17:31265272-31265272

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7810C>T; p.L2604F; 17:31357031-31357031

skinmalignant_melanomaSubstitution - Missense

c.3587T>G; p.L1196R; 17:31233092-31233092

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.495_498delTGTT; p.C167fs*10; 17:31169906-31169909

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaDeletion - Frameshift

c.7870-2A>T; p.?; 17:31357267-31357267

soft_tissue; nerve_sheathneurofibromaUnknown

c.4171T>C; p.S1391P; 17:31252998-31252998

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6836T>A; p.L2279*; 17:31338720-31338720

ovaryother; neoplasmSubstitution - Nonsense

c.3975-2A>G; p.?; 17:31248982-31248982

lungcarcinoma; adenocarcinomaUnknown

c.2573C>A; p.S858Y; 17:31229188-31229188

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6855C>G; p.Y2285*; 17:31338739-31338739

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Nonsense

c.3975-2A>G; p.?; 17:31248982-31248982

kidneyother; neoplasmUnknown

c.6836T>A; p.L2279*; 17:31338720-31338720

ovaryother; neoplasmSubstitution - Nonsense

c.3975-2A>G; p.?; 17:31248982-31248982

kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.5571C>T; p.I1857I; 17:31327801-31327801

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1392G>A; p.P464P; 17:31206371-31206371

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.7232_7232delG; p.R2411fs*7; 17:31349162-31349162

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.204+1G>C; p.?; 17:31156127-31156127

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedUnknown

c.480-57C>T; p.?; 17:31169834-31169834

large_intestinecarcinoma; adenocarcinomaUnknown

c.2052G>A; p.Q684Q; 17:31226485-31226485

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7972C>T; p.H2658Y; 17:31358481-31358481

soft_tissue; fibrous_tissue_and_uncertain_ofibrosarcoma; myxofibrosarcomaSubstitution - Missense

c.1884_1885insA; p.G629fs*5; 17:31225133-31225134

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.288+1G>T; p.?; 17:31159094-31159094

lungcarcinoma; squamous_cell_carcinomaUnknown

c.7618A>G; p.T2540A; 17:31356462-31356462

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.844C>T; p.Q282*; 17:31182621-31182621

skinmalignant_melanomaSubstitution - Nonsense

c.5324A>C; p.Q1775P; 17:31327554-31327554

livercarcinomaSubstitution - Missense

c.5324A>C; p.Q1775P; 17:31327554-31327554

livercarcinomaSubstitution - Missense

c.844C>T; p.Q282*; 17:31182621-31182621

skinmalignant_melanomaSubstitution - Nonsense

c.2464G>T; p.G822*; 17:31229079-31229079

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7003A>C; p.T2335P; 17:31340586-31340586

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.205-2A>G; p.?; 17:31159008-31159008

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaUnknown

c.205-2A>G; p.?; 17:31159008-31159008

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.5545G>T; p.D1849Y; 17:31327775-31327775

skin; lower_legmalignant_melanomaSubstitution - Missense

c.2027_2028insC; p.I679fs*21; 17:31226460-31226461

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.1831_1831C>TT; p.L611fs*3; 17:31223553-31223553

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourComplex - frameshift

c.205-2A>G; p.?; 17:31159008-31159008

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasmUnknown

c.1721G>C; p.S574T; 17:31221929-31221929

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5923C>T; p.L1975F; 17:31334948-31334948

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5357C>A; p.S1786*; 17:31327587-31327587

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.4602A>G; p.R1534R; 17:31261735-31261735

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.369C>T; p.T123T; 17:31163266-31163266

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.654+1_654+2insT; p.?; 17:31181490-31181491

breastcarcinomaUnknown

c.4108C>T; p.Q1370*; 17:31249117-31249117

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.2451_2452insG; p.S818fs*13; 17:31229066-31229067

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.586+1G>A; p.?; 17:31169998-31169998

central_nervous_system; braingliomaUnknown

c.7983G>A; p.L2661L; 17:31358492-31358492

skinmalignant_melanomaSubstitution - coding silent

c.1657C>T; p.H553Y; 17:31221865-31221865

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.6343C>T; p.P2115S; 17:31336830-31336830

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7646C>T; p.S2549L; 17:31356490-31356490

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibroma; plexiformWhole gene deletion

c.1039C>T; p.Q347*; 17:31200572-31200572

skinmalignant_melanomaSubstitution - Nonsense

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibromaWhole gene deletion

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibroma; plexiformWhole gene deletion

c.879_879delC; p.N293fs*2; 17:31182656-31182656

adrenal_glandpheochromocytomaDeletion - Frameshift

c.6007-1G>C; p.?; 17:31336332-31336332

central_nervous_system; braingliomaUnknown

c.7474C>T; p.Q2492*; 17:31352273-31352273

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.6715C>T; p.Q2239*; 17:31338035-31338035

skinmalignant_melanomaSubstitution - Nonsense

c.6715C>T; p.Q2239*; 17:31338035-31338035

skinmalignant_melanomaSubstitution - Nonsense

c.800G>A; p.W267*; 17:31182577-31182577

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibroma; plexiformWhole gene deletion

c.1039C>T; p.Q347*; 17:31200572-31200572

breastcarcinomaSubstitution - Nonsense

c.822T>C; p.L274L; 17:31182599-31182599

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1_8520del8520; p.0?; 17:31095311-31374156

adrenal_gland; adrenal_glandpheochromocytoma; benignWhole gene deletion

c.2410-3T>G; p.?; 17:31229022-31229022

soft_tissue; nerve_sheathneurofibromaUnknown

c.2928_2940del13; p.E977fs*3; 17:31229912-31229924

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibroma; plexiformWhole gene deletion

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibromaWhole gene deletion

c.62T>C; p.L21P; 17:31155984-31155984

ovaryother; neoplasmSubstitution - Missense

c.1_8520del8520; p.0?; 17:31095311-31374156

soft_tissue; nerve_sheathneurofibromaWhole gene deletion

c.5838G>A; p.L1946L; 17:31334863-31334863

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5740A>G; p.T1914A; 17:31330426-31330426

pancreascarcinomaSubstitution - Missense

c.5740A>G; p.T1914A; 17:31330426-31330426

pancreascarcinomaSubstitution - Missense

c.3398_3399delGC; p.G1133fs*61; 17:31232783-31232784

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.587-2A>G; p.?; 17:31181420-31181420

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.2079_2087delGTTTCTGTG; p.F694_W696delFLW; 17:31226512-31226520

skin; mucosalmalignant_melanomaDeletion - In frame

c.1642-1G>T; p.?; 17:31221849-31221849

lungcarcinoma; adenocarcinomaUnknown

c.5740A>G; p.T1914A; 17:31330426-31330426

pancreascarcinomaSubstitution - Missense

c.7901_7924del24; p.F2634_E2641del; 17:31357300-31357323

adrenal_glandpheochromocytomaDeletion - In frame

c.3354_3375del22; p.E1119fs*16; 17:31232739-31232760

adrenal_glandpheochromocytomaDeletion - Frameshift

c.1527+1159C>T; p.?; 17:31215744-31215744

adrenal_gland; adrenal_glandpheochromocytoma; benignUnknown

c.5357C>T; p.S1786L; 17:31327587-31327587

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7783_7784delAA; p.K2595fs*5; 17:31357004-31357005

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1846C>T; p.Q616*; 17:31225095-31225095

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Nonsense

c.846G>A; p.Q282Q; 17:31182623-31182623

pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.1007G>A; p.W336*; 17:31200540-31200540

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4711G>T; p.E1571*; 17:31261844-31261844

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Nonsense

c.6922_6922delG; p.D2308fs*11; 17:31340505-31340505

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4341G>T; p.Q1447H; 17:31259040-31259040

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4331A>G; p.K1444R; 17:31258501-31258501

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5694A>G; p.L1898L; 17:31330380-31330380

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.3870G>A; p.?; 17:31235772-31235772

skinmalignant_melanomaUnknown

c.4331A>G; p.K1444R; 17:31258501-31258501

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2829_2830insT; p.D946fs*1; 17:31229444-31229445

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1519T>G; p.L507V; 17:31214577-31214577

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2677_2689del13; p.K893fs*5; 17:31229292-31229304

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.2117C>T; p.A706V; 17:31226550-31226550

central_nervous_system; braingliomaSubstitution - Missense

c.6428-1G>A; p.?; 17:31337367-31337367

urinary_tract; bladdercarcinomaUnknown

c.7146C>G; p.F2382L; 17:31343092-31343092

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.369C>G; p.T123T; 17:31163266-31163266

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.587-1G>A; p.?; 17:31181421-31181421

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.2421delC; p.L808fs*13; 17:31229036-31229036

adrenal_gland; adrenal_glandpheochromocytomaDeletion - Frameshift

c.2421delC; p.L808fs*13; 17:31229036-31229036

adrenal_gland; adrenal_glandpheochromocytomaDeletion - Frameshift

c.4340A>G; p.Q1447R; 17:31259039-31259039

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1558G>C; p.G520R; 17:31219035-31219035

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6921G>A; p.?; 17:31338805-31338805

skinmalignant_melanomaUnknown

c.7300C>T; p.Q2434*; 17:31349230-31349230

skinmalignant_melanomaSubstitution - Nonsense

c.7172T>C; p.V2391A; 17:31343118-31343118

ovaryother; neoplasmSubstitution - Missense

c.4441G>C; p.D1481H; 17:31260379-31260379

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1594delC; p.L532fs*24; 17:31219071-31219071

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.169G>C; p.G57R; 17:31156091-31156091

livercarcinomaSubstitution - Missense

c.5878_5887del10; p.C1960fs*16; 17:31334903-31334912

soft_tissue; striated_musclerhabdomyosarcoma; embryonalDeletion - Frameshift

c.2534G>A; p.C845Y; 17:31229149-31229149

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.5997C>T; p.S1999S; 17:31335022-31335022

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.6642+1G>C; p.?; 17:31337583-31337583

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaUnknown

c.3901C>T; p.L1301L; 17:31235948-31235948

skinmalignant_melanomaSubstitution - coding silent

c.7184_7189+1delTAAAAGG; p.?; 17:31343130-31343136

breastcarcinomaUnknown

c.5640A>G; p.L1880L; 17:31330326-31330326

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.376G>T; p.E126*; 17:31163273-31163273

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5003G>T; p.G1668V; 17:31325987-31325987

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5640A>G; p.L1880L; 17:31330326-31330326

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.4051A>G; p.I1351V; 17:31249060-31249060

livercarcinomaSubstitution - Missense

c.2389G>T; p.A797S; 17:31227586-31227586

kidneyother; neoplasmSubstitution - Missense

c.5640A>G; p.L1880L; 17:31330326-31330326

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.237_238insT; p.Y80fs*27; 17:31159042-31159043

ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.1888delG; p.V630fs*1; 17:31225137-31225137

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1888delG; p.V630fs*1; 17:31225137-31225137

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.8414C>A; p.T2805N; 17:31374049-31374049

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4051A>G; p.I1351V; 17:31249060-31249060

livercarcinomaSubstitution - Missense

c.540A>G; p.L180L; 17:31169951-31169951

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1888delG; p.V630fs*1; 17:31225137-31225137

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5640A>G; p.L1880L; 17:31330326-31330326

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.5640A>G; p.L1880L; 17:31330326-31330326

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.2533T>C; p.C845R; 17:31229148-31229148

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5902C>T; p.R1968*; 17:31334927-31334927

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2533T>C; p.C845R; 17:31229148-31229148

central_nervous_system; braingliomaSubstitution - Missense

c.3719C>T; p.A1240V; 17:31235621-31235621

skinmalignant_melanomaSubstitution - Missense

c.603_621del19; p.F201fs*4; 17:31181438-31181456

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5902C>T; p.R1968*; 17:31334927-31334927

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.7487C>T; p.S2496F; 17:31352286-31352286

skinmalignant_melanomaSubstitution - Missense

c.7487C>T; p.S2496F; 17:31352286-31352286

skinmalignant_melanomaSubstitution - Missense

c.5902C>T; p.R1968*; 17:31334927-31334927

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2567G>A; p.S856N; 17:31229182-31229182

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.5855G>A; p.W1952*; 17:31334880-31334880

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2841C>T; p.S947S; 17:31229456-31229456

skinmalignant_melanomaSubstitution - coding silent

c.7548C>T; p.P2516P; 17:31352347-31352347

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1831_1832ins10; p.N614fs*3; 17:31223553-31223554

ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.8265C>T; p.L2755L; 17:31360591-31360591

skinmalignant_melanomaSubstitution - coding silent

c.7487C>T; p.S2496F; 17:31352286-31352286

skinmalignant_melanomaSubstitution - Missense

c.7663_7684del22; p.K2555fs*8; 17:31356507-31356528

soft_tissue; blood_vesselglomus_tumourDeletion - Frameshift

c.872delA; p.N292fs*3; 17:31182649-31182649

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaDeletion - Frameshift

c.5902C>T; p.R1968*; 17:31334927-31334927

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourSubstitution - Nonsense

c.4985G>T; p.W1662L; 17:31325969-31325969

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6577_6578delGA; p.E2193fs*48; 17:31337517-31337518

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1318C>T; p.R440*; 17:31206297-31206297

skinmalignant_melanomaSubstitution - Nonsense

c.1318C>T; p.R440*; 17:31206297-31206297

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.730+2_730+4delTAA; p.?; 17:31181787-31181789

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1318C>T; p.R440*; 17:31206297-31206297

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.7458-2A>G; p.?; 17:31352255-31352255

lungcarcinoma; squamous_cell_carcinomaUnknown

c.581T>C; p.L194P; 17:31169992-31169992

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3722G>T; p.R1241L; 17:31235624-31235624

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2851-2A>G; p.?; 17:31229833-31229833

soft_tissue; nerve_sheathneurofibromaUnknown

c.6299T>A; p.L2100H; 17:31336786-31336786

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1318C>T; p.R440*; 17:31206297-31206297

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.5142A>T; p.K1714N; 17:31326126-31326126

skinmalignant_melanomaSubstitution - Missense

c.1318C>T; p.R440*; 17:31206297-31206297

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.682C>T; p.P228S; 17:31181737-31181737

skinmalignant_melanomaSubstitution - Missense

c.1318C>T; p.R440*; 17:31206297-31206297

skinmalignant_melanomaSubstitution - Nonsense

c.205-1G>C; p.R69fs*7; 17:31159009-31159009

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.1318C>T; p.R440*; 17:31206297-31206297

skin; backmalignant_melanomaSubstitution - Nonsense

c.581T>C; p.L194P; 17:31169992-31169992

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4985G>T; p.W1662L; 17:31325969-31325969

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3723A>G; p.R1241R; 17:31235625-31235625

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4812_4813insT; p.I1605fs*17; 17:31265316-31265317

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.1318C>T; p.R440*; 17:31206297-31206297

central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Nonsense

c.1318C>T; p.R440*; 17:31206297-31206297

skinmalignant_melanomaSubstitution - Nonsense

c.1318C>T; p.R440*; 17:31206297-31206297

skinmalignant_melanomaSubstitution - Nonsense

c.3158C>G; p.S1053*; 17:31230886-31230886

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.4879G>T; p.V1627F; 17:31325863-31325863

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2953C>T; p.Q985*; 17:31229937-31229937

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.6290C>T; p.A2097V; 17:31336777-31336777

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.6264G>A; p.L2088L; 17:31336751-31336751

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.1641G>A; p.E547E; 17:31219118-31219118

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2545G>T; p.G849*; 17:31229160-31229160

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7870-2A>G; p.?; 17:31357267-31357267

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.6264G>C; p.L2088L; 17:31336751-31336751

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3049C>T; p.Q1017*; 17:31230318-31230318

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.5664C>T; p.I1888I; 17:31330350-31330350

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5083C>T; p.R1695W; 17:31326067-31326067

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3049C>T; p.Q1017*; 17:31230318-31230318

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.3875A>G; p.Y1292C; 17:31235922-31235922

livercarcinomaSubstitution - Missense

c.5018A>G; p.N1673S; 17:31326002-31326002

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.7602_7603insT; p.K2535fs*1; 17:31352401-31352402

central_nervous_system; brainglioma; astrocytoma_Grade_IIIInsertion - Frameshift

c.7181delT; p.L2395fs*1; 17:31343127-31343127

skin; hipmalignant_melanomaDeletion - Frameshift

c.4053C>G; p.I1351M; 17:31249062-31249062

urinary_tract; bladdercarcinomaSubstitution - Missense

c.7647A>G; p.S2549S; 17:31356491-31356491

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7647A>G; p.S2549S; 17:31356491-31356491

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7647A>G; p.S2549S; 17:31356491-31356491

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5793_5793delT; p.S1932fs*10; 17:31330479-31330479

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.1885G>T; p.G629W; 17:31225134-31225134

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.7006G>A; p.A2336T; 17:31340589-31340589

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1641+2delT; p.?; 17:31219120-31219120

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2747A>G; p.N916S; 17:31229362-31229362

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.67A>T; p.I23L; 17:31155989-31155989

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.7006G>A; p.A2336T; 17:31340589-31340589

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6675G>A; p.W2225*; 17:31337851-31337851

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.8017C>T; p.Q2673*; 17:31358526-31358526

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1405A>C; p.K469Q; 17:31214463-31214463

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3827G>T; p.R1276L; 17:31235729-31235729

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6354_6355insC; p.R2119fs*10; 17:31336841-31336842

breastcarcinomaInsertion - Frameshift

c.3827G>T; p.R1276L; 17:31235729-31235729

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5572G>A; p.A1858T; 17:31327802-31327802

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5490C>T; p.R1830R; 17:31327720-31327720

soft_tissue; striated_musclerhabdomyosarcomaSubstitution - coding silent

c.935_935delG; p.G312fs*5; 17:31200468-31200468

adrenal_glandpheochromocytomaDeletion - Frameshift

c.5872C>T; p.R1958C; 17:31334897-31334897

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7468G>A; p.E2490K; 17:31352267-31352267

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2130_2131insCG; p.H712fs*37; 17:31226563-31226564

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaInsertion - Frameshift

c.5572G>A; p.A1858T; 17:31327802-31327802

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3208C>T; p.Q1070*; 17:31232083-31232083

skinmalignant_melanomaSubstitution - Nonsense

c.1645_1646delCT; p.L549fs*8; 17:31221853-31221854

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.6351C>T; p.S2117S; 17:31336838-31336838

skin; scalpmalignant_melanomaSubstitution - coding silent

c.3208C>T; p.Q1070*; 17:31232083-31232083

skinmalignant_melanomaSubstitution - Nonsense

c.2051A>G; p.Q684R; 17:31226484-31226484

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7822_7823insT; p.E2608fs*5; 17:31357043-31357044

central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.5173delA; p.K1725fs*9; 17:31326157-31326157

central_nervous_system; thalamusglioma; astrocytoma_Grade_IIIDeletion - Frameshift

c.3709-2A>T; p.?; 17:31235609-31235609

lungcarcinoma; adenocarcinomaUnknown

c.5306_5306delG; p.R1769fs*5; 17:31327536-31327536

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.3917G>T; p.R1306L; 17:31235964-31235964

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5062G>T; p.E1688*; 17:31326046-31326046

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.3735_3744del10; p.F1247fs*16; 17:31235637-31235646

central_nervous_system; thalamusglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1496T>C; p.L499P; 17:31214554-31214554

upper_aerodigestive_tract; head_neckcarcinomaSubstitution - Missense

c.7501G>T; p.E2501*; 17:31352300-31352300

autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.4110+1G>C; p.?; 17:31249120-31249120

soft_tissue; nerve_sheathneurofibromaUnknown

c.3917G>T; p.R1306L; 17:31235964-31235964

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2351G>A; p.W784*; 17:31227548-31227548

skinmalignant_melanomaSubstitution - Nonsense

c.6512A>G; p.K2171R; 17:31337452-31337452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6772C>T; p.R2258*; 17:31338092-31338092

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.2033delC; p.P678fs*10; 17:31226466-31226466

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.81G>A; p.Q27Q; 17:31156003-31156003

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1260+1G>A; p.?; 17:31201486-31201486

soft_tissue; nerve_sheathneurofibromaUnknown

c.2033delC; p.P678fs*10; 17:31226466-31226466

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1785A>G; p.E595E; 17:31223507-31223507

livercarcinomaSubstitution - coding silent

c.2033delC; p.P678fs*10; 17:31226466-31226466

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.3568G>T; p.G1190C; 17:31233073-31233073

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2915T>C; p.L972P; 17:31229899-31229899

skinmalignant_melanomaSubstitution - Missense

c.6772C>T; p.R2258*; 17:31338092-31338092

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.6242T>G; p.L2081*; 17:31336729-31336729

central_nervous_system; braingliomaSubstitution - Nonsense

c.3818_3819delCT; p.F1275fs*8; 17:31235720-31235721

central_nervous_system; brainglioma; oligodendroglioma_Grade_IIIDeletion - Frameshift

c.6995C>A; p.S2332*; 17:31340578-31340578

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2659G>A; p.A887T; 17:31229274-31229274

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.7971-7C>A; p.?; 17:31358473-31358473

stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.1153delC; p.R385fs*2; 17:31201127-31201127

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.245C>G; p.S82C; 17:31159050-31159050

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6820-1G>C; p.?; 17:31340504-31340504

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.2505G>C; p.Q835H; 17:31229120-31229120

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2193C>T; p.L731L; 17:31226626-31226626

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.435C>T; p.L145L; 17:31163332-31163332

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3050A>G; p.Q1017R; 17:31230319-31230319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6820-1G>C; p.?; 17:31340504-31340504

lungcarcinoma; adenocarcinomaUnknown

c.1319G>A; p.R440Q; 17:31206298-31206298

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1219C>G; p.H407D; 17:31201444-31201444

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1382G>A; p.R461Q; 17:31206361-31206361

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6995C>A; p.S2332*; 17:31340578-31340578

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.4328C>G; p.S1443*; 17:31258498-31258498

breastcarcinomaSubstitution - Nonsense

c.4259C>G; p.S1420*; 17:31258429-31258429

breastcarcinomaSubstitution - Nonsense

c.1550A>G; p.E517G; 17:31219027-31219027

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1663_1666delTTAG; p.L555fs*12; 17:31221871-31221874

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5444A>T; p.Q1815L; 17:31327674-31327674

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2991G>T; p.R997S; 17:31230260-31230260

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4136A>C; p.K1379T; 17:31252963-31252963

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5088G>T; p.L1696L; 17:31326072-31326072

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.6188_6189insAGGCTTT; p.S2064fs*16; 17:31336675-31336676

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.864G>T; p.V288V; 17:31182641-31182641

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1205C>T; p.S402L; 17:31201430-31201430

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.4638_4638delG; p.G1547fs*27; 17:31261771-31261771

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.6007-2A>G; p.?; 17:31336331-31336331

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.6007-2A>G; p.?; 17:31336331-31336331

lungcarcinoma; squamous_cell_carcinomaUnknown

c.3296A>T; p.K1099I; 17:31232171-31232171

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2798T>C; p.L933P; 17:31229413-31229413

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.2971A>G; p.M991V; 17:31229955-31229955

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.6950G>T; p.W2317L; 17:31340533-31340533

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6950G>T; p.W2317L; 17:31340533-31340533

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1392+1G>T; p.?; 17:31206372-31206372

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1279C>T; p.P427S; 17:31206258-31206258

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5123T>G; p.F1708C; 17:31326107-31326107

large_intestine; caecumadenomaSubstitution - Missense

c.1279C>T; p.P427S; 17:31206258-31206258

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8001C>A; p.T2667T; 17:31358510-31358510

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1392+53delT; p.?; 17:31206424-31206424

large_intestinecarcinoma; adenocarcinomaUnknown

c.7439A>G; p.H2480R; 17:31350300-31350300

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6330A>T; p.L2110F; 17:31336817-31336817

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2712T>A; p.C904*; 17:31229327-31229327

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4082T>G; p.L1361R; 17:31249091-31249091

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4082T>G; p.L1361R; 17:31249091-31249091

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.6450A>C; p.R2150S; 17:31337390-31337390

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.801G>A; p.W267*; 17:31182578-31182578

central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Nonsense

c.3592G>T; p.E1198*; 17:31233097-31233097

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.801G>A; p.W267*; 17:31182578-31182578

central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Nonsense

c.1860T>G; p.S620R; 17:31225109-31225109

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5665G>A; p.E1889K; 17:31330351-31330351

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4352A>G; p.N1451S; 17:31259051-31259051

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5973T>C; p.S1991S; 17:31334998-31334998

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.952_953insA; p.S319fs*11; 17:31200485-31200486

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.1557A>G; p.Q519Q; 17:31219034-31219034

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1162C>A; p.P388T; 17:31201136-31201136

large_intestine; coloncarcinomaSubstitution - Missense

c.1900_1907delATTCCTTC; p.I634fs*1; 17:31225149-31225156

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4043A>G; p.H1348R; 17:31249052-31249052

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5961G>A; p.Q1987Q; 17:31334986-31334986

skinmalignant_melanomaSubstitution - coding silent

c.4821T>G; p.Y1607*; 17:31265325-31265325

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1557A>G; p.Q519Q; 17:31219034-31219034

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6852delT; p.Y2285fs*6; 17:31338736-31338736

central_nervous_system; cerebellumglioma; astrocytoma_Grade_IDeletion - Frameshift

c.705C>G; p.Y235*; 17:31181760-31181760

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.288+24G>A; p.?; 17:31159117-31159117

large_intestinecarcinoma; adenocarcinomaUnknown

c.4974_4977delTCTC; p.K1661fs*36; 17:31325958-31325961

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.2294G>T; p.R765L; 17:31227260-31227260

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1641+2T>G; p.?; 17:31219120-31219120

soft_tissue; nerve_sheathneurofibromaUnknown

c.6472_6472delT; p.L2158fs*42; 17:31337412-31337412

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.2061A>G; p.L687L; 17:31226494-31226494

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1392+52delTT; p.?; 17:31206423-31206424

large_intestinecarcinoma; adenocarcinomaUnknown

c.6798G>C; p.Q2266H; 17:31338118-31338118

urinary_tract; bladdercarcinomaSubstitution - Missense

c.5483G>A; p.R1828Q; 17:31327713-31327713

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5443C>T; p.Q1815*; 17:31327673-31327673

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.4486C>T; p.L1496F; 17:31260424-31260424

skin; neckmalignant_melanomaSubstitution - Missense

c.2087G>A; p.W696*; 17:31226520-31226520

skinmalignant_melanomaSubstitution - Nonsense

c.2695T>G; p.L899V; 17:31229310-31229310

breastcarcinomaSubstitution - Missense

c.730+2T>G; p.?; 17:31181787-31181787

prostatecarcinoma; adenocarcinomaUnknown

c.2474C>G; p.S825C; 17:31229089-31229089

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.2695T>G; p.L899V; 17:31229310-31229310

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.2474C>G; p.S825C; 17:31229089-31229089

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.2695T>G; p.L899V; 17:31229310-31229310

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Missense

c.629T>A; p.L210*; 17:31181464-31181464

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.6472_6472delT; p.L2158fs*42; 17:31337412-31337412

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5483G>A; p.R1828Q; 17:31327713-31327713

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.629T>A; p.L210*; 17:31181464-31181464

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.5443C>T; p.Q1815*; 17:31327673-31327673

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.6798G>C; p.Q2266H; 17:31338118-31338118

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.6798G>C; p.Q2266H; 17:31338118-31338118

urinary_tract; bladdercarcinomaSubstitution - Missense

c.359_375del17; p.F120fs*1; 17:31163256-31163272

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.3158C>A; p.S1053*; 17:31230886-31230886

adrenal_gland; adrenal_glandpheochromocytoma; benignSubstitution - Nonsense

c.1976G>A; p.R659Q; 17:31225225-31225225

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3845G>T; p.S1282I; 17:31235747-31235747

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2026_2027insC; p.I679fs*21; 17:31226459-31226460

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.833C>T; p.P278L; 17:31182610-31182610

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2026_2027insC; p.I679fs*21; 17:31226459-31226460

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.731-1G>T; p.?; 17:31182507-31182507

ovarycarcinoma; serous_carcinomaUnknown

c.2026_2027insC; p.I679fs*21; 17:31226459-31226460

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2026_2027insC; p.I679fs*21; 17:31226459-31226460

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.7288G>T; p.E2430*; 17:31349218-31349218

skin; earmalignant_melanomaSubstitution - Nonsense

c.5644T>C; p.C1882R; 17:31330330-31330330

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2026_2027insC; p.I679fs*21; 17:31226459-31226460

central_nervous_system; thalamusglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.4754_4755insG; p.A1586fs*36; 17:31265258-31265259

soft_tissue; nerve_sheathneurofibromaInsertion - Frameshift

c.7348C>T; p.R2450*; 17:31350209-31350209

autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.3916C>T; p.R1306*; 17:31235963-31235963

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.1198C>T; p.Q400*; 17:31201423-31201423

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.8161-1G>T; p.?; 17:31360486-31360486

urinary_tract; bladdercarcinomaUnknown

c.3916C>T; p.R1306*; 17:31235963-31235963

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.6628T>G; p.L2210V; 17:31337568-31337568

central_nervous_system; thalamusglioma; oligoastrocytoma_Grade_IISubstitution - Missense

c.7348C>T; p.R2450*; 17:31350209-31350209

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

central_nervous_system; braingliomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3916C>T; p.R1306*; 17:31235963-31235963

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

central_nervous_system; braingliomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.8161-1G>T; p.?; 17:31360486-31360486

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

c.3916C>T; p.R1306*; 17:31235963-31235963

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.3916C>T; p.R1306*; 17:31235963-31235963

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.336_343delGTTGCTGC; p.Q112fs*12; 17:31163233-31163240

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.3916C>T; p.R1306*; 17:31235963-31235963

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.3916C>T; p.R1306*; 17:31235963-31235963

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3916C>T; p.R1306*; 17:31235963-31235963

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7348C>T; p.R2450*; 17:31350209-31350209

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.6121G>T; p.G2041*; 17:31336447-31336447

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2050C>T; p.Q684*; 17:31226483-31226483

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.2050C>T; p.Q684*; 17:31226483-31226483

skinmalignant_melanomaSubstitution - Nonsense

c.8344A>G; p.M2782V; 17:31360670-31360670

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7484C>T; p.S2495F; 17:31352283-31352283

skin; facemalignant_melanomaSubstitution - Missense

c.5755G>A; p.E1919K; 17:31330441-31330441

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5734_5737delAGTA; p.S1912fs*12; 17:31330420-31330423

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.7895A>T; p.D2632V; 17:31357294-31357294

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3773G>A; p.W1258*; 17:31235675-31235675

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.5959C>T; p.Q1987*; 17:31334984-31334984

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.505_524del20; p.E169fs*1; 17:31169916-31169935

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.7305C>T; p.S2435S; 17:31349235-31349235

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2990_2990delG; p.R997fs*15; 17:31229974-31229974

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaDeletion - Frameshift

c.1720A>G; p.S574G; 17:31221928-31221928

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5959C>T; p.Q1987*; 17:31334984-31334984

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.4578-2A>G; p.?; 17:31261709-31261709

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.931G>T; p.G311*; 17:31200464-31200464

skinmalignant_melanomaSubstitution - Nonsense

c.5247_5248insA; p.D1750fs*7; 17:31326231-31326232

adrenal_gland; adrenal_glandpheochromocytoma; benignInsertion - Frameshift

c.655-8delATTTAT; p.?; 17:31181702-31181707

soft_tissue; nerve_sheathneurofibromaUnknown

c.1260+2T>G; p.?; 17:31201487-31201487

lungcarcinoma; adenocarcinomaUnknown

c.4578-2A>G; p.?; 17:31261709-31261709

soft_tissue; nerve_sheathneurofibroma; plexiformUnknown

c.489_489delA; p.E163fs*2; 17:31169900-31169900

adrenal_gland; adrenal_glandpheochromocytoma; malignantDeletion - Frameshift

c.5546A>G; p.D1849G; 17:31327776-31327776

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5305C>T; p.R1769*; 17:31327535-31327535

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5950A>G; p.N1984D; 17:31334975-31334975

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5305C>T; p.R1769*; 17:31327535-31327535

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.7823_7824insT; p.E2608fs*5; 17:31357044-31357045

central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.2972T>A; p.M991K; 17:31229956-31229956

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1178_1179delAC; p.H393fs*2; 17:31201152-31201153

soft_tissue; nerve_sheathneurofibroma; plexiformDeletion - Frameshift

c.5546A>G; p.D1849G; 17:31327776-31327776

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7987_7987delT; p.S2663fs*16; 17:31358496-31358496

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.5905C>T; p.Q1969*; 17:31334930-31334930

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.7812C>T; p.L2604L; 17:31357033-31357033

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5305C>T; p.R1769*; 17:31327535-31327535

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.5905C>T; p.Q1969*; 17:31334930-31334930

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1846-1G>A; p.?; 17:31225094-31225094

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.5546A>G; p.D1849G; 17:31327776-31327776

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1625C>A; p.A542D; 17:31219102-31219102

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5905C>T; p.Q1969*; 17:31334930-31334930

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.6626T>C; p.L2209S; 17:31337566-31337566

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.5905C>T; p.Q1969*; 17:31334930-31334930

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.5305C>T; p.R1769*; 17:31327535-31327535

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Nonsense

c.6468C>A; p.F2156L; 17:31337408-31337408

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2990+1G>A; p.?; 17:31229466-31229466

soft_tissue; nerve_sheathneurofibromaUnknown

c.2990+1G>A; p.?; 17:31229466-31229466

soft_tissue; nerve_sheathneurofibromaUnknown

c.4577+1G>C; p.?; 17:31260516-31260516

soft_tissue; nerve_sheathneurofibromaUnknown

c.4617G>T; p.M1539I; 17:31261750-31261750

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7458-1G>A; p.?; 17:31352256-31352256

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.160G>T; p.V54F; 17:31156082-31156082

breastcarcinomaSubstitution - Missense

c.3077G>A; p.R1026K; 17:31230346-31230346

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.160G>T; p.V54F; 17:31156082-31156082

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.226G>T; p.E76*; 17:31159031-31159031

adrenal_gland; adrenal_glandpheochromocytoma; benignSubstitution - Nonsense

c.3307T>G; p.F1103V; 17:31232182-31232182

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.2990+1G>A; p.?; 17:31229466-31229466

soft_tissue; nerve_sheathneurofibromaUnknown

c.821T>C; p.L274P; 17:31182598-31182598

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4577+1G>C; p.?; 17:31260516-31260516

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.5783A>G; p.E1928G; 17:31330469-31330469

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.482T>G; p.L161*; 17:31169893-31169893

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Nonsense

c.61-4delT; p.?; 17:31155979-31155979

large_intestinecarcinoma; adenocarcinomaUnknown

c.6926_6927insAAAGA; p.P2310fs*11; 17:31340509-31340510

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.910C>T; p.R304*; 17:31200443-31200443

soft_tissue; fibrous_tissue_and_uncertain_ofibrosarcoma; myxofibrosarcomaSubstitution - Nonsense

c.5951A>C; p.N1984T; 17:31334976-31334976

soft_tissue; nerve_sheathneurofibromaSubstitution - Missense

c.1541_1542delAG; p.Q514fs*43; 17:31219018-31219019

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.910C>T; p.R304*; 17:31200443-31200443

adrenal_gland; adrenal_glandpheochromocytomaSubstitution - Nonsense

c.910C>T; p.R304*; 17:31200443-31200443

soft_tissue; fibrous_tissue_and_uncertain_ofibrosarcoma; myxofibrosarcomaSubstitution - Nonsense

c.1541_1542delAG; p.Q514fs*43; 17:31219018-31219019

soft_tissue; nerve_sheathmalignant_peripheral_nerve_sheath_tumourDeletion - Frameshift

c.910C>T; p.R304*; 17:31200443-31200443

soft_tissue; nerve_sheathneurofibroma; plexiformSubstitution - Nonsense

c.910C>T; p.R304*; 17:31200443-31200443

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.397_397delG; p.E133fs*32; 17:31163294-31163294

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.5608C>T; p.R1870W; 17:31327838-31327838

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.5608C>T; p.R1870W; 17:31327838-31327838

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.910C>T; p.R304*; 17:31200443-31200443

soft_tissue; nerve_sheathneurofibromaSubstitution - Nonsense

c.4962T>A; p.F1654L; 17:31325946-31325946

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.4174-2A>T; p.?; 17:31258342-31258342

adrenal_glandpheochromocytomaUnknown

c.2325G>C; p.E775D; 17:31227291-31227291

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.5588G>C; p.G1863A; 17:31327818-31327818

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2373C>G; p.I791M; 17:31227570-31227570

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.971_976delGTGTCA; p.C324_K326>*; 17:31200504-31200509

adrenal_gland; adrenal_glandpheochromocytoma; benignComplex - deletion inframe

c.1243C>T; p.H415Y; 17:31201468-31201468

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3520C>T; p.Q1174*; 17:31233025-31233025

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Nonsense

c.4341G>C; p.Q1447H; 17:31259040-31259040

breastcarcinomaSubstitution - Missense

c.4332G>C; p.K1444N; 17:31258502-31258502

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4332G>C; p.K1444N; 17:31258502-31258502

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.4332G>C; p.K1444N; 17:31258502-31258502

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.8265C>A; p.L2755L; 17:31360591-31360591

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5867T>G; p.L1956R; 17:31334892-31334892

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.204+1G>T; p.?; 17:31156127-31156127

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourUnknown

c.7239A>G; p.L2413L; 17:31349169-31349169

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1721+3A>T; p.A548fs*13; 17:31221932-31221932

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.8133G>T; p.L2711F; 17:31358988-31358988

thyroidother; neoplasmSubstitution - Missense

c.3520C>T; p.Q1174*; 17:31233025-31233025

ovaryother; neoplasmSubstitution - Nonsense

c.2546_2546delG; p.G849fs*29; 17:31229161-31229161

adrenal_gland; adrenal_glandpheochromocytoma; benignDeletion - Frameshift

c.4332G>C; p.K1444N; 17:31258502-31258502

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.4669A>G; p.T1557A; 17:31261802-31261802

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2324A>C; p.E775A; 17:31227290-31227290

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3272A>G; p.D1091G; 17:31232147-31232147

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.5464C>T; p.Q1822*; 17:31327694-31327694

skinmalignant_melanomaSubstitution - Nonsense

c.2252-31A>G; p.?; 17:31227187-31227187

large_intestinecarcinoma; adenocarcinomaUnknown

c.1724C>T; p.S575L; 17:31223446-31223446

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1611C>T; p.H537H; 17:31219088-31219088

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6355_6385del31; p.R2119fs*21; 17:31336842-31336872

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.4151delA; p.K1386fs*20; 17:31252978-31252978

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.7115A>G; p.K2372R; 17:31343061-31343061

pancreascarcinomaSubstitution - Missense

c.4549A>G; p.K1517E; 17:31260487-31260487

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.4560G>T; p.Q1520H; 17:31260498-31260498

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6853T>C; p.Y2285H; 17:31338737-31338737

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2792C>T; p.P931L; 17:31229407-31229407

skinmalignant_melanomaSubstitution - Missense

c.6853T>C; p.Y2285H; 17:31338737-31338737

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1570G>T; p.E524*; 17:31219047-31219047

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1748A>G; p.K583R; 17:31223470-31223470

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.7053C>G; p.F2351L; 17:31340636-31340636

breastcarcinomaSubstitution - Missense

c.1393-1G>C; p.?; 17:31214450-31214450

breastcarcinomaUnknown

c.3727_3728delCT; p.L1243fs*5; 17:31235629-31235630

soft_tissue; nerve_sheathneurofibromaDeletion - Frameshift

c.3827G>A; p.R1276Q; 17:31235729-31235729

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3712G>T; p.E1238*; 17:31235614-31235614

skinmalignant_melanomaSubstitution - Nonsense

c.2027delC; p.P678fs*10; 17:31226460-31226460

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaDeletion - Frameshift

c.3827G>A; p.R1276Q; 17:31235729-31235729

skinmalignant_melanomaSubstitution - Missense

c.7877_7904del28; p.V2627fs*8; 17:31357276-31357303

breastcarcinomaDeletion - Frameshift

c.4560G>C; p.Q1520H; 17:31260498-31260498

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4643C>T; p.P1548L; 17:31261776-31261776

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3827G>A; p.R1276Q; 17:31235729-31235729

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3827G>A; p.R1276Q; 17:31235729-31235729

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2027delC; p.P678fs*10; 17:31226460-31226460

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2027delC; p.P678fs*10; 17:31226460-31226460

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaDeletion - Frameshift

c.5670C>A; p.G1890G; 17:31330356-31330356

stomachadenocarcinomaSubstitution - coding silent

c.175A>C; p.T59P; 17:31156097-31156097

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; juvenile_myelomonocytic_leukaemiaSubstitution - Missense

c.8499T>G; p.N2833K; 17:31374134-31374134

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.4747G>T; p.E1583*; 17:31265251-31265251

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1096A>T; p.R366*; 17:31201070-31201070

breastcarcinomaSubstitution - Nonsense

c.586+2T>C; p.?; 17:31169999-31169999

skinmalignant_melanomaUnknown

c.3968C>T; p.P1323L; 17:31236015-31236015

skin; neckmalignant_melanomaSubstitution - Missense

c.4747G>T; p.E1583*; 17:31265251-31265251

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.590C>A; p.T197K; 17:31181425-31181425

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1393-2_1400delAGAGTCTTAC; p.?; 17:31214449-31214458

lungcarcinoma; adenocarcinomaUnknown

c.1213A>G; p.T405A; 17:31201438-31201438

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.655-1G>A; p.?; 17:31181709-31181709

soft_tissue; nerve_sheathneurofibromaUnknown


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