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

Basic Information

Gene ID

7158

Name

TP53BP1

Synonymous

tumor protein p53 binding protein 1;TP53BP1;tumor protein p53 binding protein 1

Definition

p53-binding protein 1|tumor protein 53-binding protein, 1|tumor protein p53-binding protein, 1|tumor suppressor p53-binding protein 1

Position

15q15-q21

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 0.23.

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.4186C>T; p.R1396C; 15:43421074-43421074

skinmalignant_melanomaSubstitution - Missense

c.2489C>T; p.S830F; 15:43456104-43456104

skinmalignant_melanomaSubstitution - Missense

c.3483G>C; p.L1161F; 15:43432371-43432371

breastcarcinomaSubstitution - Missense

c.1142C>T; p.P381L; 15:43474696-43474696

NSmalignant_melanomaSubstitution - Missense

c.1142C>T; p.P381L; 15:43474696-43474696

NSmalignant_melanomaSubstitution - Missense

c.857A>G; p.E286G; 15:43477676-43477676

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1043G>A; p.R348K; 15:43475592-43475592

breastcarcinomaSubstitution - Missense

c.3416C>A; p.P1139H; 15:43432438-43432438

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3493G>A; p.E1165K; 15:43432361-43432361

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1329C>T; p.F443F; 15:43469903-43469903

skinmalignant_melanomaSubstitution - coding silent

c.221G>A; p.G74E; 15:43492052-43492052

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2130delA; p.E711fs*12; 15:43456463-43456463

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3050delA; p.N1017fs*20; 15:43441559-43441559

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2261C>T; p.S754F; 15:43456332-43456332

skinmalignant_melanomaSubstitution - Missense

c.3607G>T; p.G1203C; 15:43432247-43432247

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2926G>T; p.G976W; 15:43446486-43446486

thyroidcarcinomaSubstitution - Missense

c.1663C>G; p.L555V; 15:43456930-43456930

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670G>A; p.E224K; 15:43479500-43479500

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670G>A; p.E224K; 15:43479500-43479500

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2821+5G>A; p.?; 15:43447361-43447361

breastcarcinomaUnknown

c.4459G>A; p.V1487I; 15:43420512-43420512

breastcarcinomaSubstitution - Missense

c.5497G>A; p.D1833N; 15:43408985-43408985

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.860G>T; p.S287I; 15:43477673-43477673

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2319A>T; p.E773D; 15:43456274-43456274

breastcarcinomaSubstitution - Missense

c.5342G>A; p.R1781Q; 15:43409690-43409690

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14G>A; p.G5E; 15:43492447-43492447

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3651C>T; p.L1217L; 15:43432203-43432203

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.4569C>T; p.Y1523Y; 15:43420402-43420402

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494G>T; p.K498N; 15:43457099-43457099

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4569C>T; p.Y1523Y; 15:43420402-43420402

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.14G>A; p.G5E; 15:43492447-43492447

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.445G>T; p.D149Y; 15:43480934-43480934

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2189A>C; p.K730T; 15:43456404-43456404

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4501T>G; p.F1501V; 15:43420470-43420470

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1786G>T; p.D596Y; 15:43456807-43456807

ovaryother; neoplasmSubstitution - Missense

c.1297T>C; p.S433P; 15:43469935-43469935

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1294G>A; p.A432T; 15:43469938-43469938

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3128G>T; p.R1043M; 15:43438372-43438372

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1234G>C; p.G412R; 15:43469998-43469998

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.5431C>T; p.R1811*; 15:43409051-43409051

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.5291-8delT; p.?; 15:43409749-43409749

livercarcinomaUnknown

c.471C>T; p.S157S; 15:43480908-43480908

skinmalignant_melanomaSubstitution - coding silent

c.695C>T; p.S232F; 15:43479475-43479475

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.40C>T; p.Q14*; 15:43492421-43492421

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2130_2131insA; p.E711fs*9; 15:43456462-43456463

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.309delC; p.I104fs*95; 15:43491716-43491716

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3586G>A; p.V1196I; 15:43432268-43432268

skin; trunkmalignant_melanomaSubstitution - Missense

c.1900C>T; p.R634*; 15:43456693-43456693

skinmalignant_melanomaSubstitution - Nonsense

c.3606T>C; p.S1202S; 15:43432248-43432248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1900C>T; p.R634*; 15:43456693-43456693

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3667G>T; p.E1223*; 15:43428162-43428162

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3687G>A; p.Q1229Q; 15:43428142-43428142

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.959C>G; p.S320C; 15:43475676-43475676

pancreascarcinomaSubstitution - Missense

c.3001G>T; p.E1001*; 15:43446411-43446411

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2551C>T; p.Q851*; 15:43456042-43456042

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4439C>T; p.S1480F; 15:43420532-43420532

skin; extremitymalignant_melanomaSubstitution - Missense

c.5417C>T; p.A1806V; 15:43409065-43409065

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1222A>G; p.K408E; 15:43470010-43470010

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.163G>T; p.E55*; 15:43492298-43492298

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4396C>T; p.P1466S; 15:43420575-43420575

skinmalignant_melanomaSubstitution - Missense

c.2554C>T; p.Q852*; 15:43456039-43456039

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.163G>T; p.E55*; 15:43492298-43492298

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5537A>G; p.Y1846C; 15:43408945-43408945

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4904C>T; p.S1635F; 15:43415764-43415764

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.5573G>T; p.R1858I; 15:43408909-43408909

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5573G>T; p.R1858I; 15:43408909-43408909

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1102G>A; p.D368N; 15:43474736-43474736

parathyroidcarcinomaSubstitution - Missense

c.2209G>T; p.E737*; 15:43456384-43456384

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1643C>T; p.T548M; 15:43456950-43456950

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.5058T>A; p.S1686S; 15:43415610-43415610

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.657A>G; p.E219E; 15:43479513-43479513

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.5058T>A; p.S1686S; 15:43415610-43415610

thyroidother; neoplasmSubstitution - coding silent

c.2209G>T; p.E737*; 15:43456384-43456384

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5774C>T; p.S1925L; 15:43407528-43407528

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3902A>C; p.D1301A; 15:43422038-43422038

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5575A>G; p.I1859V; 15:43408907-43408907

central_nervous_system; braingliomaSubstitution - Missense

c.5418G>A; p.A1806A; 15:43409064-43409064

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.5407C>T; p.L1803F; 15:43409075-43409075

stomachadenocarcinomaSubstitution - Missense

c.4667-6C>T; p.?; 15:43416422-43416422

skinmalignant_melanomaUnknown

c.1087G>T; p.V363F; 15:43474751-43474751

breastcarcinomaSubstitution - Missense

c.4667-6C>T; p.?; 15:43416422-43416422

skinmalignant_melanomaUnknown

c.1216C>T; p.Q406*; 15:43470016-43470016

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4927A>G; p.S1643G; 15:43415741-43415741

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3977G>A; p.S1326N; 15:43421963-43421963

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4673T>G; p.V1558G; 15:43416410-43416410

breastcarcinomaSubstitution - Missense

c.177+7G>A; p.?; 15:43492277-43492277

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.177+7G>A; p.?; 15:43492277-43492277

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2501C>T; p.S834F; 15:43456092-43456092

skinmalignant_melanomaSubstitution - Missense

c.2149G>T; p.E717*; 15:43456444-43456444

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.5767G>A; p.D1923N; 15:43407535-43407535

skinmalignant_melanomaSubstitution - Missense

c.5767G>A; p.D1923N; 15:43407535-43407535

skinmalignant_melanomaSubstitution - Missense

c.3928T>C; p.S1310P; 15:43422012-43422012

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.357-1G>C; p.?; 15:43481023-43481023

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.3593C>T; p.T1198I; 15:43432261-43432261

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.4652A>G; p.E1551G; 15:43420319-43420319

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1448C>T; p.S483L; 15:43457145-43457145

skinmalignant_melanomaSubstitution - Missense

c.1402G>T; p.E468*; 15:43457191-43457191

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.2002C>T; p.P668S; 15:43456591-43456591

skinmalignant_melanomaSubstitution - Missense

c.2002C>T; p.P668S; 15:43456591-43456591

skinmalignant_melanomaSubstitution - Missense

c.5448C>T; p.F1816F; 15:43409034-43409034

breastcarcinomaSubstitution - coding silent

c.211G>A; p.E71K; 15:43492062-43492062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3722G>T; p.R1241I; 15:43428107-43428107

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4994C>T; p.S1665L; 15:43415674-43415674

breastcarcinomaSubstitution - Missense

c.4288T>C; p.S1430P; 15:43420683-43420683

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1071-1G>T; p.?; 15:43474768-43474768

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.4338C>A; p.S1446S; 15:43420633-43420633

thyroidcarcinomaSubstitution - coding silent

c.3820G>T; p.E1274*; 15:43422120-43422120

central_nervous_system; braingliomaSubstitution - Nonsense

c.4569C>A; p.Y1523*; 15:43420402-43420402

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2702-4_2702-3insT; p.?; 15:43447488-43447489

central_nervous_system; brainglioma; oligoastrocytoma_Grade_IIIUnknown

c.2702-4_2702-3insT; p.?; 15:43447488-43447489

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.2176G>T; p.D726Y; 15:43456417-43456417

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4655A>G; p.Y1552C; 15:43420316-43420316

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5812C>T; p.Q1938*; 15:43407490-43407490

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4747C>T; p.R1583*; 15:43416336-43416336

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4401C>T; p.F1467F; 15:43420570-43420570

skinmalignant_melanomaSubstitution - coding silent

c.1471A>T; p.K491*; 15:43457122-43457122

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.4733G>T; p.R1578I; 15:43416350-43416350

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5243G>A; p.R1748H; 15:43413166-43413166

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1971G>A; p.E657E; 15:43456622-43456622

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1971G>A; p.E657E; 15:43456622-43456622

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1500C>T; p.S500S; 15:43457093-43457093

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1500C>T; p.S500S; 15:43457093-43457093

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2811T>C; p.S937S; 15:43447376-43447376

breastcarcinomaSubstitution - coding silent

c.412G>T; p.E138*; 15:43480967-43480967

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3881delG; p.G1294fs*68; 15:43422059-43422059

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.5888C>T; p.P1963L; 15:43407414-43407414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2889_2890CC>TT; p.H964Y; 15:43446522-43446523

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2731G>T; p.E911*; 15:43447456-43447456

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2680A>C; p.S894R; 15:43455913-43455913

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1645G>A; p.E549K; 15:43456948-43456948

skinmalignant_melanomaSubstitution - Missense

c.4038C>A; p.P1346P; 15:43421902-43421902

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.5444A>G; p.Y1815C; 15:43409038-43409038

breastcarcinomaSubstitution - Missense

c.4351G>T; p.D1451Y; 15:43420620-43420620

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4850T>G; p.I1617S; 15:43416233-43416233

breastcarcinomaSubstitution - Missense

c.3080C>G; p.A1027G; 15:43441529-43441529

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.5313C>G; p.F1771L; 15:43409719-43409719

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4490C>T; p.S1497F; 15:43420481-43420481

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4362T>A; p.A1454A; 15:43420609-43420609

skinmalignant_melanomaSubstitution - coding silent

c.4027G>T; p.G1343W; 15:43421913-43421913

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5029C>T; p.R1677W; 15:43415639-43415639

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2496G>A; p.Q832Q; 15:43456097-43456097

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5771C>T; p.P1924L; 15:43407531-43407531

skin; trunkmalignant_melanomaSubstitution - Missense

c.2001C>A; p.I667I; 15:43456592-43456592

skinmalignant_melanomaSubstitution - coding silent

c.4510G>T; p.G1504W; 15:43420461-43420461

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1681C>T; p.P561S; 15:43456912-43456912

skinmalignant_melanomaSubstitution - Missense

c.4510G>T; p.G1504W; 15:43420461-43420461

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.762A>G; p.P254P; 15:43479408-43479408

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.256G>T; p.E86*; 15:43492017-43492017

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2935C>T; p.P979S; 15:43446477-43446477

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.484+1G>A; p.?; 15:43480894-43480894

lungcarcinoma; adenocarcinomaUnknown

c.5765C>A; p.T1922K; 15:43407537-43407537

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.1234G>A; p.G412S; 15:43469998-43469998

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2689G>T; p.E897*; 15:43455904-43455904

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.5833G>C; p.E1945Q; 15:43407469-43407469

breastcarcinomaSubstitution - Missense

c.1234G>A; p.G412S; 15:43469998-43469998

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1234G>A; p.G412S; 15:43469998-43469998

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2689G>T; p.E897*; 15:43455904-43455904

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.919T>C; p.F307L; 15:43477614-43477614

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.919T>C; p.F307L; 15:43477614-43477614

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2185C>T; p.Q729*; 15:43456408-43456408

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.4957_4960ATCA>TCCT; p.I1653_T1654>SS; 15:43415708-43415711

lungcarcinoma; non_small_cell_carcinomaComplex - compound substitution

c.3420T>C; p.S1140S; 15:43432434-43432434

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1577delC; p.P526fs*6; 15:43457016-43457016

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5867G>T; p.R1956I; 15:43407435-43407435

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1604G>T; p.R535I; 15:43456989-43456989

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.964C>T; p.P322S; 15:43475671-43475671

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2600C>A; p.S867*; 15:43455993-43455993

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.5030G>A; p.R1677Q; 15:43415638-43415638

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.4970C>T; p.P1657L; 15:43415698-43415698

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1625A>T; p.N542I; 15:43456968-43456968

livercarcinomaSubstitution - Missense

c.5348G>C; p.G1783A; 15:43409684-43409684

breastcarcinomaSubstitution - Missense

c.225C>A; p.D75E; 15:43492048-43492048

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.3235G>T; p.G1079C; 15:43432619-43432619

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2038A>T; p.K680*; 15:43456555-43456555

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.3056C>T; p.S1019F; 15:43441553-43441553

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1375-2A>G; p.?; 15:43457220-43457220

stomachadenocarcinomaUnknown

c.5050C>T; p.R1684C; 15:43415618-43415618

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3056C>T; p.S1019F; 15:43441553-43441553

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.4324C>T; p.R1442*; 15:43420647-43420647

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3358A>G; p.M1120V; 15:43432496-43432496

kidneyother; neoplasmSubstitution - Missense

c.2924C>T; p.S975F; 15:43446488-43446488

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.5197G>A; p.A1733T; 15:43413212-43413212

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2886G>A; p.E962E; 15:43446526-43446526

thyroidcarcinomaSubstitution - coding silent

c.1143C>A; p.P381P; 15:43474695-43474695

pancreascarcinomaSubstitution - coding silent

c.337C>A; p.Q113K; 15:43491688-43491688

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1516C>T; p.L506L; 15:43457077-43457077

skinmalignant_melanomaSubstitution - coding silent

c.4697G>T; p.G1566V; 15:43416386-43416386

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1176G>T; p.M392I; 15:43470056-43470056

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5451G>T; p.L1817L; 15:43409031-43409031

breastcarcinomaSubstitution - coding silent

c.1076C>A; p.S359Y; 15:43474762-43474762

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4639C>G; p.L1547V; 15:43420332-43420332

prostatecarcinomaSubstitution - Missense

c.4545T>G; p.Y1515*; 15:43420426-43420426

pancreasother; adenomaSubstitution - Nonsense

c.2742C>T; p.I914I; 15:43447445-43447445

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1651A>T; p.M551L; 15:43456942-43456942

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2185C>G; p.Q729E; 15:43456408-43456408

breastcarcinomaSubstitution - Missense

c.2839G>A; p.E947K; 15:43446573-43446573

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5544G>T; p.L1848F; 15:43408938-43408938

pancreascarcinomaSubstitution - Missense

c.5768A>G; p.D1923G; 15:43407534-43407534

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3146G>A; p.R1049Q; 15:43438354-43438354

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3611A>T; p.E1204V; 15:43432243-43432243

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3729C>T; p.I1243I; 15:43428100-43428100

skinmalignant_melanomaSubstitution - coding silent

c.1780A>G; p.R594G; 15:43456813-43456813

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.616A>T; p.R206W; 15:43479886-43479886

breastcarcinomaSubstitution - Missense

c.3026-1G>A; p.?; 15:43441584-43441584

central_nervous_system; temporoparietalglioma; astrocytoma_Grade_IVUnknown

c.4921G>A; p.A1641T; 15:43415747-43415747

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2487T>C; p.D829D; 15:43456106-43456106

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.992_997delTGGCTT; p.L331_A332delLA; 15:43475638-43475643

ovarycarcinoma; serous_carcinomaDeletion - In frame

c.2487T>C; p.D829D; 15:43456106-43456106

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2487T>C; p.D829D; 15:43456106-43456106

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.4198C>T; p.R1400*; 15:43421062-43421062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4976C>T; p.A1659V; 15:43415692-43415692

skin; trunkmalignant_melanomaSubstitution - Missense

c.4198C>T; p.R1400*; 15:43421062-43421062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3030T>C; p.P1010P; 15:43441579-43441579

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2630C>G; p.S877*; 15:43455963-43455963

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2487T>G; p.D829E; 15:43456106-43456106

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.989C>T; p.S330F; 15:43475646-43475646

skinmalignant_melanomaSubstitution - Missense

c.847G>T; p.E283*; 15:43477686-43477686

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.117C>T; p.H39H; 15:43492344-43492344

skinmalignant_melanomaSubstitution - coding silent

c.3517A>T; p.T1173S; 15:43432337-43432337

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5449C>A; p.L1817M; 15:43409033-43409033

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3219G>T; p.E1073D; 15:43432635-43432635

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2447T>G; p.L816R; 15:43456146-43456146

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2810G>A; p.S937N; 15:43447377-43447377

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.273C>T; p.D91D; 15:43491752-43491752

skinmalignant_melanomaSubstitution - coding silent

c.2300G>A; p.R767K; 15:43456293-43456293

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2916A>C; p.K972N; 15:43446496-43446496

skinmalignant_melanomaSubstitution - Missense

c.4717G>C; p.E1573Q; 15:43416366-43416366

breastcarcinomaSubstitution - Missense

c.3470T>G; p.M1157R; 15:43432384-43432384

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4312C>A; p.R1438S; 15:43420659-43420659

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2062C>T; p.P688S; 15:43456531-43456531

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2062C>T; p.P688S; 15:43456531-43456531

skin; legmalignant_melanomaSubstitution - Missense

c.2062C>T; p.P688S; 15:43456531-43456531

skin; legmalignant_melanomaSubstitution - Missense

c.850C>G; p.L284V; 15:43477683-43477683

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2435A>G; p.Y812C; 15:43456158-43456158

prostateadenomaSubstitution - Missense

c.5287G>A; p.E1763K; 15:43413122-43413122

skin; mucosalmalignant_melanomaSubstitution - Missense

c.4723G>T; p.E1575*; 15:43416360-43416360

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.5043G>A; p.K1681K; 15:43415625-43415625

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.472C>T; p.L158F; 15:43480907-43480907

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.5181C>G; p.T1727T; 15:43413228-43413228

pancreascarcinomaSubstitution - coding silent

c.1198G>A; p.E400K; 15:43470034-43470034

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3814G>A; p.E1272K; 15:43422126-43422126

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1716A>T; p.A572A; 15:43456877-43456877

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.5432G>A; p.R1811Q; 15:43409050-43409050

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5528A>G; p.Y1843C; 15:43408954-43408954

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.156G>A; p.T52T; 15:43492305-43492305

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4994C>G; p.S1665*; 15:43415674-43415674

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2919G>T; p.G973G; 15:43446493-43446493

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.4665A>T; p.A1555A; 15:43420306-43420306

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - coding silent

c.4313G>A; p.R1438H; 15:43420658-43420658

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3712C>T; p.R1238C; 15:43428117-43428117

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3712C>T; p.R1238C; 15:43428117-43428117

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2975T>G; p.V992G; 15:43446437-43446437

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.5291-2A>G; p.?; 15:43409743-43409743

stomachcarcinoma; adenocarcinomaUnknown

c.1059C>G; p.D353E; 15:43475576-43475576

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1059C>G; p.D353E; 15:43475576-43475576

livercarcinomaSubstitution - Missense

c.1059C>G; p.D353E; 15:43475576-43475576

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1059C>G; p.D353E; 15:43475576-43475576

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.632A>G; p.D211G; 15:43479870-43479870

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3961C>T; p.L1321F; 15:43421979-43421979

skinmalignant_melanomaSubstitution - Missense

c.3543G>A; p.G1181G; 15:43432311-43432311

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1970_1972delAGG; p.E657delE; 15:43456621-43456623

endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.4003G>A; p.G1335R; 15:43421937-43421937

pancreascarcinomaSubstitution - Missense

c.3854C>G; p.T1285S; 15:43422086-43422086

salivary_gland; mouth_roofcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.2238G>A; p.W746*; 15:43456355-43456355

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.5741T>C; p.L1914S; 15:43407561-43407561

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1356C>T; p.S452S; 15:43469876-43469876

skinmalignant_melanomaSubstitution - coding silent

c.1999A>T; p.I667F; 15:43456594-43456594

skinmalignant_melanomaSubstitution - Missense

c.4788G>C; p.L1596L; 15:43416295-43416295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5625C>G; p.L1875L; 15:43408049-43408049

breastcarcinomaSubstitution - coding silent

c.5855T>C; p.I1952T; 15:43407447-43407447

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1499C>T; p.S500F; 15:43457094-43457094

skin; trunkmalignant_melanomaSubstitution - Missense

c.4903T>C; p.S1635P; 15:43415765-43415765

pancreasNSSubstitution - Missense

c.5732-1G>T; p.?; 15:43407571-43407571

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.4544A>C; p.Y1515S; 15:43420427-43420427

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1128C>T; p.I376I; 15:43474710-43474710

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.178G>A; p.D60N; 15:43492095-43492095

skinmalignant_melanomaSubstitution - Missense

c.1942A>G; p.M648V; 15:43456651-43456651

breastcarcinomaSubstitution - Missense

c.2926G>A; p.G976R; 15:43446486-43446486

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3335C>T; p.P1112L; 15:43432519-43432519

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1904C>T; p.S635F; 15:43456689-43456689

breastcarcinomaSubstitution - Missense

c.3740G>A; p.R1247H; 15:43428089-43428089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2993C>T; p.A998V; 15:43446419-43446419

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4037C>T; p.P1346L; 15:43421903-43421903

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3941G>A; p.R1314H; 15:43421999-43421999

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4026C>T; p.S1342S; 15:43421914-43421914

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1180A>T; p.T394S; 15:43470052-43470052

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4661G>A; p.S1554N; 15:43420310-43420310

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2036T>A; p.L679H; 15:43456557-43456557

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2300G>T; p.R767I; 15:43456293-43456293

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1070+4A>C; p.?; 15:43475561-43475561

livercarcinomaUnknown

c.3549T>A; p.S1183R; 15:43432305-43432305

skin; neckmalignant_melanomaSubstitution - Missense

c.692_693AG>TA; p.Q231L; 15:43479477-43479478

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3055T>A; p.S1019T; 15:43441554-43441554

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.760C>T; p.P254S; 15:43479410-43479410

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1988A>G; p.E663G; 15:43456605-43456605

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5035C>T; p.P1679S; 15:43415633-43415633

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4199G>A; p.R1400Q; 15:43421061-43421061

skinmalignant_melanomaSubstitution - Missense

c.878A>T; p.K293M; 15:43477655-43477655

skinmalignant_melanomaSubstitution - Missense

c.2130A>C; p.K710N; 15:43456463-43456463

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5003G>T; p.R1668I; 15:43415665-43415665

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5003G>T; p.R1668I; 15:43415665-43415665

breastcarcinomaSubstitution - Missense

c.5797_5806del10; p.C1933fs*12; 15:43407496-43407505

stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.3917C>T; p.S1306F; 15:43422023-43422023

skinmalignant_melanomaSubstitution - Missense

c.5003G>T; p.R1668I; 15:43415665-43415665

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2397G>T; p.E799D; 15:43456196-43456196

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5026G>C; p.E1676Q; 15:43415642-43415642

thyroidother; neoplasmSubstitution - Missense

c.2044G>T; p.E682*; 15:43456549-43456549

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1435G>A; p.D479N; 15:43457158-43457158

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1648C>T; p.P550S; 15:43456945-43456945

skinmalignant_melanomaSubstitution - Missense

c.3692C>T; p.P1231L; 15:43428137-43428137

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2352C>T; p.S784S; 15:43456241-43456241

skinmalignant_melanomaSubstitution - coding silent

c.4541A>C; p.K1514T; 15:43420430-43420430

livercarcinomaSubstitution - Missense

c.3083G>T; p.S1028I; 15:43441526-43441526

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5455C>T; p.L1819F; 15:43409027-43409027

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3406A>C; p.K1136Q; 15:43432448-43432448

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3406A>C; p.K1136Q; 15:43432448-43432448

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3406A>C; p.K1136Q; 15:43432448-43432448

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2994G>A; p.A998A; 15:43446418-43446418

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2291C>T; p.P764L; 15:43456302-43456302

skinmalignant_melanomaSubstitution - Missense

c.1262delC; p.P421fs*65; 15:43469970-43469970

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.4019A>G; p.K1340R; 15:43421921-43421921

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4748G>T; p.R1583L; 15:43416335-43416335

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.H39Y; 15:43492346-43492346

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5273G>T; p.S1758I; 15:43413136-43413136

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.H39Y; 15:43492346-43492346

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4063C>T; p.R1355*; 15:43421877-43421877

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.751G>T; p.E251*; 15:43479419-43479419

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.115C>T; p.H39Y; 15:43492346-43492346

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1746T>C; p.N582N; 15:43456847-43456847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1746T>C; p.N582N; 15:43456847-43456847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1746T>C; p.N582N; 15:43456847-43456847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1347_1352delTATCCC; p.I450_P451delIP; 15:43469880-43469885

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.5051G>A; p.R1684H; 15:43415617-43415617

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5867G>A; p.R1956K; 15:43407435-43407435

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3770T>C; p.V1257A; 15:43428059-43428059

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1887G>A; p.P629P; 15:43456706-43456706

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent


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