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

Basic Information

Gene ID

2048

Name

EPHB2

Synonymous

EPH receptor B2;EPHB2;EPH receptor B2

Definition

EPH-like kinase 5|developmentally-regulated Eph-related tyrosine kinase|elk-related tyrosine kinase|eph tyrosine kinase 3|ephrin type-B receptor 2|protein-tyrosine kinase HEK5|renal carcinoma antigen NY-REN-47|tyrosine-protein kinase TYRO5|tyrosine-protei

Position

1p36.1-p35

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 0.03.

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.1882G>A; p.G628R; 1:22906103-22906103

pancreascarcinomaSubstitution - Missense

c.1036C>A; p.P346T; 1:22864945-22864945

livercarcinomaSubstitution - Missense

c.2372G>A; p.R791H; 1:22909041-22909041

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2107G>T; p.E703*; 1:22906928-22906928

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1036C>A; p.P346T; 1:22864945-22864945

livercarcinomaSubstitution - Missense

c.2365C>T; p.P789S; 1:22909034-22909034

skinmalignant_melanomaSubstitution - Missense

c.1647C>T; p.A549A; 1:22895527-22895527

skinmalignant_melanomaSubstitution - coding silent

c.1432C>T; p.L478F; 1:22892887-22892887

livercarcinomaSubstitution - Missense

c.1432C>T; p.L478F; 1:22892887-22892887

livercarcinomaSubstitution - Missense

c.1889-1G>C; p.?; 1:22906709-22906709

urinary_tract; bladdercarcinomaUnknown

c.2409C>T; p.F803F; 1:22909078-22909078

skinmalignant_melanomaSubstitution - coding silent

c.1340G>A; p.R447H; 1:22882395-22882395

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2802C>T; p.F934F; 1:22912549-22912549

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1725G>A; p.S575S; 1:22896438-22896438

skinmalignant_melanomaSubstitution - coding silent

c.69A>G; p.L23L; 1:22781428-22781428

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2346T>G; p.S782R; 1:22908162-22908162

skinmalignant_melanomaSubstitution - Missense

c.366G>A; p.S122S; 1:22784631-22784631

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.426A>C; p.A142A; 1:22784691-22784691

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2628T>G; p.I876M; 1:22910507-22910507

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.824G>A; p.G275E; 1:22863049-22863049

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2200A>G; p.M734V; 1:22908016-22908016

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.736G>A; p.E246K; 1:22785001-22785001

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.631C>T; p.L211L; 1:22784896-22784896

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.987G>A; p.Q329Q; 1:22864896-22864896

skinmalignant_melanomaSubstitution - coding silent

c.1290C>T; p.T430T; 1:22865199-22865199

skinmalignant_melanomaSubstitution - coding silent

c.1049C>T; p.S350F; 1:22864958-22864958

skin; upper_legmalignant_melanomaSubstitution - Missense

c.1454C>T; p.A485V; 1:22892909-22892909

skinmalignant_melanomaSubstitution - Missense

c.1407T>A; p.Y469*; 1:22882462-22882462

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.242G>A; p.R81H; 1:22784507-22784507

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.914G>A; p.C305Y; 1:22863139-22863139

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2474G>A; p.R825Q; 1:22909143-22909143

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2474G>A; p.R825Q; 1:22909143-22909143

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1980G>A; p.T660T; 1:22906801-22906801

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.325G>A; p.E109K; 1:22784590-22784590

skin; armmalignant_melanomaSubstitution - Missense

c.1980G>A; p.T660T; 1:22906801-22906801

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1638C>A; p.G546G; 1:22895518-22895518

thyroidother; neoplasmSubstitution - coding silent

c.1733C>T; p.T578M; 1:22896446-22896446

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.170G>A; p.R57H; 1:22784435-22784435

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3097C>T; p.R1033W; 1:22913799-22913799

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2660C>T; p.P887L; 1:22910539-22910539

skin; shouldermalignant_melanomaSubstitution - Missense

c.1043G>A; p.R348H; 1:22864952-22864952

pancreascarcinomaSubstitution - Missense

c.2560G>A; p.A854T; 1:22910439-22910439

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1043G>A; p.R348H; 1:22864952-22864952

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1722C>T; p.D574D; 1:22896435-22896435

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1734G>A; p.T578T; 1:22896447-22896447

skinmalignant_melanomaSubstitution - coding silent

c.1722C>T; p.D574D; 1:22896435-22896435

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2031C>T; p.F677F; 1:22906852-22906852

skinmalignant_melanomaSubstitution - coding silent

c.2513C>G; p.A838G; 1:22910392-22910392

urinary_tract; bladdercarcinomaSubstitution - Missense

c.917G>A; p.R306H; 1:22863142-22863142

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.568G>A; p.V190M; 1:22784833-22784833

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.591C>T; p.C197C; 1:22784856-22784856

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1796C>T; p.P599L; 1:22906017-22906017

skinmalignant_melanomaSubstitution - Missense

c.1796C>T; p.P599L; 1:22906017-22906017

skinmalignant_melanomaSubstitution - Missense

c.2446A>G; p.M816V; 1:22909115-22909115

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2832C>T; p.V944V; 1:22912579-22912579

lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.2832C>T; p.V944V; 1:22912579-22912579

lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.2832C>T; p.V944V; 1:22912579-22912579

skinmalignant_melanomaSubstitution - coding silent

c.318C>A; p.S106S; 1:22784583-22784583

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.232A>T; p.I78F; 1:22784497-22784497

skinmalignant_melanomaSubstitution - Missense

c.978C>T; p.S326S; 1:22864887-22864887

skinmalignant_melanomaSubstitution - coding silent

c.746T>G; p.V249G; 1:22785011-22785011

thyroidother; neoplasmSubstitution - Missense

c.978C>T; p.S326S; 1:22864887-22864887

skinmalignant_melanomaSubstitution - coding silent

c.1994G>A; p.R665Q; 1:22906815-22906815

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.978C>T; p.S326S; 1:22864887-22864887

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.746T>G; p.V249G; 1:22785011-22785011

skin; earmalignant_melanomaSubstitution - Missense

c.2058G>A; p.E686E; 1:22906879-22906879

skinmalignant_melanomaSubstitution - coding silent

c.1371C>T; p.S457S; 1:22882426-22882426

skinmalignant_melanomaSubstitution - coding silent

c.235C>T; p.R79W; 1:22784500-22784500

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.682G>A; p.A228T; 1:22784947-22784947

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2804C>G; p.A935G; 1:22912551-22912551

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235C>T; p.R79W; 1:22784500-22784500

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2289G>A; p.S763S; 1:22908105-22908105

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2289G>A; p.S763S; 1:22908105-22908105

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2289G>A; p.S763S; 1:22908105-22908105

skinmalignant_melanomaSubstitution - coding silent

c.2289G>A; p.S763S; 1:22908105-22908105

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.980C>T; p.A327V; 1:22864889-22864889

prostatecarcinomaSubstitution - Missense

c.238C>T; p.R80C; 1:22784503-22784503

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2864G>T; p.R955L; 1:22913473-22913473

skinmalignant_melanomaSubstitution - Missense

c.3092delG; p.R1033fs*>23; 1:22913794-22913794

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2789A>G; p.Y930C; 1:22912536-22912536

meningesmeningiomaSubstitution - Missense

c.2378C>A; p.T793K; 1:22909047-22909047

thyroidother; neoplasmSubstitution - Missense

c.2164C>T; p.Q722*; 1:22907980-22907980

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1086C>T; p.C362C; 1:22864995-22864995

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2517T>G; p.I839M; 1:22910396-22910396

breastcarcinomaSubstitution - Missense

c.654G>A; p.S218S; 1:22784919-22784919

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1027G>A; p.E343K; 1:22864936-22864936

skinmalignant_melanomaSubstitution - Missense

c.1772C>T; p.P591L; 1:22905993-22905993

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2107G>A; p.E703K; 1:22906928-22906928

skinmalignant_melanomaSubstitution - Missense

c.2958C>A; p.G986G; 1:22913660-22913660

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2107G>A; p.E703K; 1:22906928-22906928

skinmalignant_melanomaSubstitution - Missense

c.1301C>T; p.A434V; 1:22865210-22865210

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1792G>A; p.D598N; 1:22906013-22906013

skinmalignant_melanomaSubstitution - Missense

c.653C>T; p.S218L; 1:22784918-22784918

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.164C>T; p.T55M; 1:22784429-22784429

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3127G>A; p.D1043N; 1:22913829-22913829

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.164C>T; p.T55M; 1:22784429-22784429

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2060G>A; p.G687D; 1:22906881-22906881

skinmalignant_melanomaSubstitution - Missense

c.1991G>T; p.R664L; 1:22906812-22906812

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2670delC; p.A892fs*57; 1:22910549-22910549

pancreascarcinoma; adenocarcinomaDeletion - Frameshift

c.118C>T; p.P40S; 1:22781477-22781477

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.853G>A; p.A285T; 1:22863078-22863078

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.848A>G; p.D283G; 1:22863073-22863073

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.278C>T; p.S93L; 1:22784543-22784543

skinmalignant_melanomaSubstitution - Missense

c.3051A>G; p.G1017G; 1:22913753-22913753

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2830G>A; p.V944I; 1:22912577-22912577

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.394G>A; p.E132K; 1:22784659-22784659

skinmalignant_melanomaSubstitution - Missense

c.2414C>T; p.S805L; 1:22909083-22909083

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1306C>T; p.P436S; 1:22882361-22882361

skin; scalpmalignant_melanomaSubstitution - Missense

c.1168G>T; p.E390*; 1:22865077-22865077

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1068C>T; p.L356L; 1:22864977-22864977

breastcarcinomaSubstitution - coding silent

c.294C>A; p.S98R; 1:22784559-22784559

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1257C>T; p.P419P; 1:22865166-22865166

livercarcinomaSubstitution - coding silent

c.780C>T; p.F260F; 1:22785045-22785045

skinmalignant_melanomaSubstitution - coding silent

c.507G>A; p.V169V; 1:22784772-22784772

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1257C>T; p.P419P; 1:22865166-22865166

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2044G>A; p.V682I; 1:22906865-22906865

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1971G>T; p.S657S; 1:22906792-22906792

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1276T>C; p.S426P; 1:22865185-22865185

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.189C>T; p.N63N; 1:22784454-22784454

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2233C>T; p.R745C; 1:22908049-22908049

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.G521S; 1:22893016-22893016

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2373C>A; p.R791R; 1:22909042-22909042

pancreascarcinomaSubstitution - coding silent

c.2191G>A; p.A731T; 1:22908007-22908007

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3010C>T; p.P1004S; 1:22913712-22913712

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.636G>A; p.S212S; 1:22784901-22784901

pancreasNSSubstitution - coding silent

c.636G>A; p.S212S; 1:22784901-22784901

pancreascarcinomaSubstitution - coding silent

c.793A>G; p.N265D; 1:22785058-22785058

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1177delA; p.I393fs*19; 1:22865086-22865086

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1246G>T; p.D416Y; 1:22865155-22865155

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.P39S; 1:22781474-22781474

skinmalignant_melanomaSubstitution - Missense

c.1575C>T; p.F525F; 1:22893030-22893030

skinmalignant_melanomaSubstitution - coding silent

c.2531G>A; p.R844Q; 1:22910410-22910410

skinmalignant_melanomaSubstitution - Missense

c.753C>T; p.I251I; 1:22785018-22785018

breastcarcinomaSubstitution - coding silent

c.1126G>A; p.G376R; 1:22865035-22865035

skinmalignant_melanomaSubstitution - Missense

c.2595G>A; p.K865K; 1:22910474-22910474

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.181G>C; p.V61L; 1:22784446-22784446

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1052G>A; p.G351E; 1:22864961-22864961

skinmalignant_melanomaSubstitution - Missense

c.2353-1G>T; p.?; 1:22909021-22909021

skinmalignant_melanomaUnknown

c.488T>C; p.V163A; 1:22784753-22784753

skinmalignant_melanomaSubstitution - Missense

c.2881G>A; p.A961T; 1:22913490-22913490

skinmalignant_melanomaSubstitution - Missense

c.491G>A; p.R164Q; 1:22784756-22784756

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.491G>A; p.R164Q; 1:22784756-22784756

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2619C>T; p.F873F; 1:22910498-22910498

skinmalignant_melanomaSubstitution - coding silent

c.517G>A; p.G173S; 1:22784782-22784782

livercarcinomaSubstitution - Missense

c.1927C>A; p.P643T; 1:22906748-22906748

autonomic_ganglianeuroblastomaSubstitution - Missense

c.517G>A; p.G173S; 1:22784782-22784782

livercarcinomaSubstitution - Missense

c.984C>A; p.P328P; 1:22864893-22864893

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1881C>T; p.I627I; 1:22906102-22906102

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1535C>T; p.T512I; 1:22892990-22892990

skin; armmalignant_melanomaSubstitution - Missense

c.1627C>T; p.L543F; 1:22895507-22895507

breastcarcinomaSubstitution - Missense

c.1420T>C; p.Y474H; 1:22882475-22882475

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2463C>G; p.S821S; 1:22909132-22909132

kidneyother; neoplasmSubstitution - coding silent

c.1390G>A; p.G464S; 1:22882445-22882445

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.531C>T; p.A177A; 1:22784796-22784796

breastcarcinomaSubstitution - coding silent

c.1552C>T; p.R518C; 1:22893007-22893007

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1552C>T; p.R518C; 1:22893007-22893007

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.2675C>A; p.A892D; 1:22910554-22910554

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2562C>T; p.A854A; 1:22910441-22910441

skinmalignant_melanomaSubstitution - coding silent

c.220C>T; p.R74W; 1:22784485-22784485

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.949C>A; p.L317M; 1:22863174-22863174

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.999C>T; p.S333S; 1:22864908-22864908

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1069G>A; p.V357I; 1:22864978-22864978

breastcarcinomaSubstitution - Missense

c.1069G>A; p.V357I; 1:22864978-22864978

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.952G>A; p.D318N; 1:22863177-22863177

skin; shouldermalignant_melanomaSubstitution - Missense

c.1724C>T; p.S575L; 1:22896437-22896437

oesophaguscarcinomaSubstitution - Missense

c.1402G>T; p.D468Y; 1:22882457-22882457

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1491C>A; p.G497G; 1:22892946-22892946

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3150C>T; p.D1050D; 1:22913852-22913852

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1765+2T>C; p.?; 1:22896480-22896480

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.509C>T; p.S170F; 1:22784774-22784774

skinmalignant_melanomaSubstitution - Missense

c.509C>T; p.S170F; 1:22784774-22784774

skinmalignant_melanomaSubstitution - Missense

c.207G>A; p.Q69Q; 1:22784472-22784472

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.306C>T; p.S102S; 1:22784571-22784571

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2234G>C; p.R745P; 1:22908050-22908050

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1122C>T; p.R374R; 1:22865031-22865031

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2007C>T; p.S669S; 1:22906828-22906828

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2007C>T; p.S669S; 1:22906828-22906828

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2007C>T; p.S669S; 1:22906828-22906828

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2007C>T; p.S669S; 1:22906828-22906828

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.466G>A; p.V156I; 1:22784731-22784731

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2653C>T; p.R885C; 1:22910532-22910532

skinmalignant_melanomaSubstitution - Missense

c.2599C>T; p.R867C; 1:22910478-22910478

skinmalignant_melanomaSubstitution - Missense

c.2298G>A; p.G766G; 1:22908114-22908114

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2581G>A; p.D861N; 1:22910460-22910460

skinmalignant_melanomaSubstitution - Missense

c.2652C>T; p.I884I; 1:22910531-22910531

skinmalignant_melanomaSubstitution - coding silent

c.466G>A; p.V156I; 1:22784731-22784731

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.450G>A; p.V150V; 1:22784715-22784715

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.329C>A; p.T110N; 1:22784594-22784594

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2238C>T; p.D746D; 1:22908054-22908054

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1365G>A; p.S455S; 1:22882420-22882420

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1702C>T; p.R568W; 1:22896415-22896415

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1830G>A; p.R610R; 1:22906051-22906051

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1702C>T; p.R568W; 1:22896415-22896415

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1549G>A; p.G517R; 1:22893004-22893004

breastcarcinomaSubstitution - Missense

c.643G>A; p.E215K; 1:22784908-22784908

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1702C>T; p.R568W; 1:22896415-22896415

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1201C>A; p.H401N; 1:22865110-22865110

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.221G>A; p.R74Q; 1:22784486-22784486

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.534C>T; p.F178F; 1:22784799-22784799

skinmalignant_melanomaSubstitution - coding silent

c.221G>A; p.R74Q; 1:22784486-22784486

skinmalignant_melanomaSubstitution - Missense

c.1501G>A; p.G501S; 1:22892956-22892956

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1378G>A; p.D460N; 1:22882433-22882433

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1041C>T; p.P347P; 1:22864950-22864950

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.909T>C; p.C303C; 1:22863134-22863134

skinmalignant_melanomaSubstitution - coding silent

c.2098G>A; p.E700K; 1:22906919-22906919

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2680G>A; p.A894T; 1:22910559-22910559

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2454G>A; p.E818E; 1:22909123-22909123

livercarcinomaSubstitution - coding silent

c.2364C>T; p.I788I; 1:22909033-22909033

skinmalignant_melanomaSubstitution - coding silent

c.3048C>T; p.D1016D; 1:22913750-22913750

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.411G>A; p.K137K; 1:22784676-22784676

skinmalignant_melanomaSubstitution - coding silent

c.548G>A; p.G183D; 1:22784813-22784813

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1819G>A; p.E607K; 1:22906040-22906040

skin; scalpmalignant_melanomaSubstitution - Missense

c.1819G>A; p.E607K; 1:22906040-22906040

skinmalignant_melanomaSubstitution - Missense

c.1819G>A; p.E607K; 1:22906040-22906040

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1842G>A; p.K614K; 1:22906063-22906063

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.699G>A; p.V233V; 1:22784964-22784964

NSmalignant_melanomaSubstitution - coding silent

c.699G>A; p.V233V; 1:22784964-22784964

NSmalignant_melanomaSubstitution - coding silent

c.2097C>T; p.T699T; 1:22906918-22906918

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1031G>T; p.W344L; 1:22864940-22864940

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1923G>A; p.K641K; 1:22906744-22906744

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2860C>A; p.L954I; 1:22913469-22913469

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1818C>T; p.N606N; 1:22906039-22906039

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2259C>T; p.L753L; 1:22908075-22908075

skinmalignant_melanomaSubstitution - coding silent

c.65C>T; p.T22M; 1:22781424-22781424

pancreascarcinomaSubstitution - Missense

c.91G>A; p.A31T; 1:22781450-22781450

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2724G>A; p.T908T; 1:22912471-22912471

skinmalignant_melanomaSubstitution - coding silent

c.1339C>T; p.R447C; 1:22882394-22882394

skinmalignant_melanomaSubstitution - Missense

c.729G>A; p.G243G; 1:22784994-22784994

skinmalignant_melanomaSubstitution - coding silent

c.65C>T; p.T22M; 1:22781424-22781424

kidneyother; neoplasmSubstitution - Missense

c.128G>T; p.W43L; 1:22784393-22784393

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1263G>T; p.S421S; 1:22865172-22865172

breastcarcinomaSubstitution - coding silent

c.2690C>T; p.S897F; 1:22910569-22910569

skinmalignant_melanomaSubstitution - Missense

c.579C>G; p.F193L; 1:22784844-22784844

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2008G>A; p.E670K; 1:22906829-22906829

skinmalignant_melanomaSubstitution - Missense

c.94G>A; p.E32K; 1:22781453-22781453

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1828C>T; p.R610W; 1:22906049-22906049

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1175G>A; p.R392H; 1:22865084-22865084

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1175G>A; p.R392H; 1:22865084-22865084

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1175G>A; p.R392H; 1:22865084-22865084

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1175G>A; p.R392H; 1:22865084-22865084

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2248C>T; p.R750C; 1:22908064-22908064

skinmalignant_melanomaSubstitution - Missense

c.2126C>T; p.S709F; 1:22906947-22906947

skinmalignant_melanomaSubstitution - Missense

c.1791C>T; p.I597I; 1:22906012-22906012

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3051delA; p.K1020fs*>36; 1:22913753-22913753

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2209C>T; p.L737L; 1:22908025-22908025

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3051delA; p.K1020fs*>36; 1:22913753-22913753

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2232C>T; p.H744H; 1:22908048-22908048

skinmalignant_melanomaSubstitution - coding silent

c.1345G>A; p.V449M; 1:22882400-22882400

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2495A>G; p.N832S; 1:22909164-22909164

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.614C>T; p.A205V; 1:22784879-22784879

skin; backmalignant_melanomaSubstitution - Missense

c.1277C>G; p.S426C; 1:22865186-22865186

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1071C>G; p.V357V; 1:22864980-22864980

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2665A>G; p.S889G; 1:22910544-22910544

breastcarcinomaSubstitution - Missense

c.2635A>G; p.T879A; 1:22910514-22910514

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.606G>T; p.Q202H; 1:22784871-22784871

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2422G>A; p.D808N; 1:22909091-22909091

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2088G>A; p.M696I; 1:22906909-22906909

skinmalignant_melanomaSubstitution - Missense

c.2928G>A; p.A976A; 1:22913537-22913537

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1106G>A; p.R369Q; 1:22865015-22865015

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.2769G>T; p.E923D; 1:22912516-22912516

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2319C>T; p.D773D; 1:22908135-22908135

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1482C>T; p.T494T; 1:22892937-22892937

skinmalignant_melanomaSubstitution - coding silent

c.1044C>T; p.R348R; 1:22864953-22864953

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.262G>A; p.V88M; 1:22784527-22784527

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.V88M; 1:22784527-22784527

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.261C>T; p.H87H; 1:22784526-22784526

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.2620G>A; p.G874S; 1:22910499-22910499

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1843G>A; p.E615K; 1:22906064-22906064

skin; kneemalignant_melanomaSubstitution - Missense

c.261C>T; p.H87H; 1:22784526-22784526

breastcarcinomaSubstitution - coding silent

c.1843G>A; p.E615K; 1:22906064-22906064

skin; upper_legmalignant_melanomaSubstitution - Missense

c.1843G>A; p.E615K; 1:22906064-22906064

skinmalignant_melanomaSubstitution - Missense

c.1843G>A; p.E615K; 1:22906064-22906064

skinmalignant_melanomaSubstitution - Missense

c.1843G>A; p.E615K; 1:22906064-22906064

skinmalignant_melanomaSubstitution - Missense

c.2620G>A; p.G874S; 1:22910499-22910499

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2682G>A; p.A894A; 1:22910561-22910561

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.153G>T; p.E51D; 1:22784418-22784418

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2818A>C; p.T940P; 1:22912565-22912565

urinary_tract; bladdercarcinomaSubstitution - Missense

c.603C>T; p.I201I; 1:22784868-22784868

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1246G>C; p.D416H; 1:22865155-22865155

prostatecarcinomaSubstitution - Missense

c.2905A>T; p.N969Y; 1:22913514-22913514

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense


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