Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

10514

Name

MYBBP1A

Synonymous

MYB binding protein (P160) 1a;MYBBP1A;MYB binding protein (P160) 1a

Definition

myb-binding protein 1A|p53-activated protein-2

Position

17p13.3

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

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

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.02.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.2774A>G; p.N925S; 17:4543031-4543031

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.3254C>T; p.S1085F; 17:4541506-4541506

 skinmalignant_melanomaSubstitution - Missense

c.831G>C; p.K277N; 17:4552199-4552199

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.2048C>T; p.P683L; 17:4545635-4545635

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2857G>A; p.G953S; 17:4542948-4542948

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.550A>G; p.I184V; 17:4553821-4553821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3309G>A; p.L1103L; 17:4540473-4540473

 skinmalignant_melanomaSubstitution - coding silent

c.375G>T; p.K125N; 17:4554198-4554198

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1105C>T; p.R369W; 17:4550272-4550272

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3317C>T; p.T1106M; 17:4540465-4540465

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3773C>T; p.P1258L; 17:4539629-4539629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.817C>T; p.R273C; 17:4552213-4552213

 skinmalignant_melanomaSubstitution - Missense

c.1757A>T; p.H586L; 17:4548025-4548025

 oesophaguscarcinomaSubstitution - Missense

c.2882C>A; p.T961K; 17:4542923-4542923

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3195+10G>C; p.?; 17:4541774-4541774

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.2653C>T; p.R885C; 17:4543152-4543152

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2882C>A; p.T961K; 17:4542923-4542923

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.3925C>A; p.P1309T; 17:4539477-4539477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2008G>A; p.A670T; 17:4545675-4545675

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2008G>A; p.A670T; 17:4545675-4545675

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2160+2T>G; p.?; 17:4545257-4545257

 breastcarcinomaUnknown

c.2008G>A; p.A670T; 17:4545675-4545675

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1936C>T; p.P646S; 17:4545747-4545747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3581A>G; p.D1194G; 17:4539821-4539821

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.825A>G; p.A275A; 17:4552205-4552205

 thyroidother; neoplasmSubstitution - coding silent

c.2743C>T; p.P915S; 17:4543062-4543062

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1695C>T; p.F565F; 17:4548172-4548172

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2248G>A; p.G750R; 17:4545088-4545088

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1675G>A; p.V559M; 17:4548192-4548192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3592G>A; p.A1198T; 17:4539810-4539810

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.242T>G; p.L81R; 17:4554913-4554913

 livercarcinomaSubstitution - Missense

c.3203G>A; p.R1068H; 17:4541557-4541557

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.242T>G; p.L81R; 17:4554913-4554913

 livercarcinomaSubstitution - Missense

c.3812C>A; p.P1271H; 17:4539590-4539590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2825G>A; p.C942Y; 17:4542980-4542980

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1572C>T; p.L524L; 17:4548295-4548295

 breastcarcinomaSubstitution - coding silent

c.363G>A; p.L121L; 17:4554210-4554210

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3562G>T; p.D1188Y; 17:4539840-4539840

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3017C>T; p.P1006L; 17:4542617-4542617

 central_nervous_system; braingliomaSubstitution - Missense

c.3708C>T; p.G1236G; 17:4539694-4539694

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3708C>T; p.G1236G; 17:4539694-4539694

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3775T>C; p.S1259P; 17:4539627-4539627

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1047C>T; p.A349A; 17:4550330-4550330

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3972G>C; p.K1324N; 17:4539430-4539430

 livercarcinomaSubstitution - Missense

c.3972G>C; p.K1324N; 17:4539430-4539430

 livercarcinomaSubstitution - Missense

c.2288T>C; p.V763A; 17:4545048-4545048

 breastcarcinomaSubstitution - Missense

c.3430G>A; p.V1144I; 17:4540352-4540352

 prostatecarcinomaSubstitution - Missense

c.1578G>A; p.T526T; 17:4548289-4548289

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1578G>A; p.T526T; 17:4548289-4548289

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3526C>T; p.P1176S; 17:4539876-4539876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2154T>G; p.G718G; 17:4545265-4545265

 breastcarcinomaSubstitution - coding silent

c.3483C>T; p.T1161T; 17:4539919-4539919

 thyroidcarcinomaSubstitution - coding silent

c.2338G>A; p.E780K; 17:4544894-4544894

 breastcarcinomaSubstitution - Missense

c.3522C>A; p.F1174L; 17:4539880-4539880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2170G>A; p.E724K; 17:4545166-4545166

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2830C>T; p.H944Y; 17:4542975-4542975

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3807G>T; p.T1269T; 17:4539595-4539595

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1824+6G>A; p.?; 17:4547952-4547952

 livercarcinomaUnknown

c.838A>T; p.K280*; 17:4552192-4552192

 prostatecarcinomaSubstitution - Nonsense

c.2945T>C; p.L982P; 17:4542689-4542689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.940C>G; p.P314A; 17:4551963-4551963

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.763G>A; p.A255T; 17:4552267-4552267

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1023+9T>C; p.?; 17:4551871-4551871

 livercarcinoma; hepatocellular_carcinomaUnknown

c.3073C>T; p.R1025W; 17:4542478-4542478

 central_nervous_system; braingliomaSubstitution - Missense

c.3851A>G; p.K1284R; 17:4539551-4539551

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1023+9T>C; p.?; 17:4551871-4551871

 livercarcinoma; hepatocellular_carcinomaUnknown

c.3073C>T; p.R1025W; 17:4542478-4542478

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3718C>A; p.R1240R; 17:4539684-4539684

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3718C>A; p.R1240R; 17:4539684-4539684

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2694G>C; p.G898G; 17:4543111-4543111

 pancreascarcinomaSubstitution - coding silent

c.1516G>A; p.E506K; 17:4548564-4548564

 skinmalignant_melanomaSubstitution - Missense

c.3678G>A; p.G1226G; 17:4539724-4539724

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1162A>C; p.T388P; 17:4550215-4550215

 thyroidcarcinomaSubstitution - Missense

c.1920C>G; p.I640M; 17:4545847-4545847

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2757C>T; p.T919T; 17:4543048-4543048

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.580C>A; p.Q194K; 17:4552608-4552608

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.158C>T; p.A53V; 17:4555167-4555167

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3873A>T; p.P1291P; 17:4539529-4539529

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.580C>A; p.Q194K; 17:4552608-4552608

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.3603C>T; p.G1201G; 17:4539799-4539799

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1688C>T; p.T563I; 17:4548179-4548179

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3014A>G; p.H1005R; 17:4542620-4542620

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.574delA; p.T192fs*14; 17:4552614-4552614

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2192G>A; p.S731N; 17:4545144-4545144

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3666C>T; p.A1222A; 17:4539736-4539736

 skinmalignant_melanomaSubstitution - coding silent

c.1662T>G; p.N554K; 17:4548205-4548205

 skinmalignant_melanomaSubstitution - Missense

c.3662C>T; p.P1221L; 17:4539740-4539740

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.886A>C; p.M296L; 17:4552144-4552144

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.249C>T; p.V83V; 17:4554906-4554906

 skinmalignant_melanomaSubstitution - coding silent

c.3795C>T; p.P1265P; 17:4539607-4539607

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2983G>A; p.V995I; 17:4542651-4542651

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1398G>A; p.E466E; 17:4549364-4549364

 breastcarcinomaSubstitution - coding silent

c.1310C>G; p.S437W; 17:4550067-4550067

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.1528C>T; p.R510*; 17:4548552-4548552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2141G>A; p.R714Q; 17:4545278-4545278

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2968A>T; p.N990Y; 17:4542666-4542666

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.427C>T; p.L143F; 17:4554045-4554045

 skinmalignant_melanomaSubstitution - Missense

c.2687G>A; p.R896H; 17:4543118-4543118

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3079C>A; p.R1027S; 17:4542472-4542472

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.579G>T; p.L193F; 17:4552609-4552609

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3202C>T; p.R1068C; 17:4541558-4541558

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.936C>A; p.A312A; 17:4551967-4551967

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2241_2242insGAG; p.E747_R748insE; 17:4545094-4545095

 pleurapulmonary_blastomaInsertion - In frame

c.2241_2242insGAG; p.E747_R748insE; 17:4545094-4545095

 pleurapulmonary_blastomaInsertion - In frame

c.3169G>T; p.G1057C; 17:4541810-4541810

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.318C>T; p.L106L; 17:4554255-4554255

 skinmalignant_melanomaSubstitution - coding silent

c.3252C>T; p.S1084S; 17:4541508-4541508

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2137G>A; p.E713K; 17:4545282-4545282

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1023+1G>A; p.?; 17:4551879-4551879

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.2073+3G>T; p.?; 17:4545607-4545607

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.557C>T; p.S186F; 17:4553814-4553814

 skinmalignant_melanomaSubstitution - Missense

c.3040C>T; p.P1014S; 17:4542511-4542511

 skinmalignant_melanomaSubstitution - Missense

c.1066G>A; p.V356M; 17:4550311-4550311

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.592C>T; p.P198S; 17:4552596-4552596

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.990C>A; p.I330I; 17:4551913-4551913

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2844G>A; p.E948E; 17:4542961-4542961

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3736G>A; p.A1246T; 17:4539666-4539666

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2180A>G; p.E727G; 17:4545156-4545156

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3173A>T; p.Q1058L; 17:4541806-4541806

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3867A>C; p.K1289N; 17:4539535-4539535

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.407A>G; p.N136S; 17:4554065-4554065

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3941G>A; p.S1314N; 17:4539461-4539461

 breastcarcinomaSubstitution - Missense

c.3379G>T; p.G1127C; 17:4540403-4540403

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1183G>C; p.V395L; 17:4550194-4550194

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1520_1521insA; p.N507fs*109; 17:4548559-4548560

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.423C>T; p.L141L; 17:4554049-4554049

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3908C>T; p.S1303F; 17:4539494-4539494

 skinmalignant_melanomaSubstitution - Missense

c.3685A>G; p.T1229A; 17:4539717-4539717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3804C>T; p.P1268P; 17:4539598-4539598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3149C>T; p.P1050L; 17:4541830-4541830

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3776_3777CC>TT; p.S1259F; 17:4539625-4539626

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3219G>A; p.A1073A; 17:4541541-4541541

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.3929G>A; p.S1310N; 17:4539473-4539473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2111G>A; p.R704H; 17:4545308-4545308

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2123C>T; p.T708M; 17:4545296-4545296

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1572C>G; p.L524L; 17:4548295-4548295

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1572C>G; p.L524L; 17:4548295-4548295

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.3205G>A; p.V1069M; 17:4541555-4541555

 kidneyother; neoplasmSubstitution - Missense

c.1700C>T; p.A567V; 17:4548167-4548167

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.532C>T; p.R178W; 17:4553839-4553839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.783C>T; p.D261D; 17:4552247-4552247

 skinmalignant_melanomaSubstitution - coding silent

c.821T>C; p.L274P; 17:4552209-4552209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3397G>A; p.D1133N; 17:4540385-4540385

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.918C>T; p.F306F; 17:4551985-4551985

 skinmalignant_melanomaSubstitution - coding silent

c.3133T>C; p.S1045P; 17:4541846-4541846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2986C>T; p.P996S; 17:4542648-4542648

 skinmalignant_melanomaSubstitution - Missense

c.1122A>G; p.L374L; 17:4550255-4550255

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.370G>C; p.V124L; 17:4554203-4554203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.717C>A; p.F239L; 17:4552471-4552471

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.919C>T; p.R307C; 17:4551984-4551984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1049C>T; p.P350L; 17:4550328-4550328

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2012G>A; p.R671Q; 17:4545671-4545671

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2412C>A; p.I804I; 17:4544820-4544820

 livercarcinomaSubstitution - coding silent

c.1164G>A; p.T388T; 17:4550213-4550213

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1878_1879delAA; p.L628fs*71; 17:4545888-4545889

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114C>A; p.F38L; 17:4555211-4555211

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2128G>A; p.D710N; 17:4545291-4545291

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1912A>G; p.K638E; 17:4545855-4545855

 breastcarcinomaSubstitution - Missense

c.1316A>G; p.H439R; 17:4550061-4550061

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.374A>G; p.K125R; 17:4554199-4554199

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.533G>A; p.R178Q; 17:4553838-4553838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3230C>T; p.A1077V; 17:4541530-4541530

 pancreascarcinomaSubstitution - Missense

c.2741A>C; p.Q914P; 17:4543064-4543064

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1834G>A; p.E612K; 17:4545933-4545933

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2643C>T; p.H881H; 17:4543162-4543162

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2643C>T; p.H881H; 17:4543162-4543162

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2643C>T; p.H881H; 17:4543162-4543162

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.712C>T; p.L238L; 17:4552476-4552476

 skinmalignant_melanomaSubstitution - coding silent

c.931G>A; p.A311T; 17:4551972-4551972

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3840T>C; p.A1280A; 17:4539562-4539562

 skinmalignant_melanomaSubstitution - coding silent

c.1621T>A; p.W541R; 17:4548246-4548246

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.567G>A; p.S189S; 17:4552621-4552621

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1163C>T; p.T388M; 17:4550214-4550214

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3176T>C; p.V1059A; 17:4541803-4541803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.933G>A; p.A311A; 17:4551970-4551970

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1611T>C; p.G537G; 17:4548256-4548256

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.933G>A; p.A311A; 17:4551970-4551970

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.785G>A; p.R262H; 17:4552245-4552245

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3231G>A; p.A1077A; 17:4541529-4541529

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.891G>A; p.Q297Q; 17:4552139-4552139

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.803C>T; p.A268V; 17:4552227-4552227

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3947C>T; p.A1316V; 17:4539455-4539455

 skinmalignant_melanomaSubstitution - Missense

c.3297+1G>T; p.?; 17:4541462-4541462

 livercarcinoma; hepatocellular_carcinomaUnknown

c.3008C>T; p.S1003F; 17:4542626-4542626

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.295-7C>T; p.?; 17:4554285-4554285

 stomachcarcinoma; adenocarcinomaUnknown

c.295-7C>T; p.?; 17:4554285-4554285

 livercarcinoma; hepatocellular_carcinomaUnknown

c.295-7C>T; p.?; 17:4554285-4554285

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.295-7C>T; p.?; 17:4554285-4554285

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

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