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

Basic Information

Gene ID

4485

Name

MST1

Synonymous

macrophage stimulating 1;MST1;macrophage stimulating 1

Definition

hepatocyte growth factor-like protein|hepatocyte growth factor-like protein homolog|macrophage stimulating 1 (hepatocyte growth factor-like)|macrophage-stimulating protein

Position

3p21

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 0.09.

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.2165T>C; p.M722T; 3:49684041-49684041

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1565G>C; p.G522A; 3:49685069-49685069

skinmalignant_melanomaSubstitution - Missense

c.1731G>A; p.G577G; 3:49684776-49684776

skinmalignant_melanomaSubstitution - coding silent

c.1565G>C; p.G522A; 3:49685069-49685069

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1565G>C; p.G522A; 3:49685069-49685069

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1565G>C; p.G522A; 3:49685069-49685069

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1162G>A; p.A388T; 3:49685948-49685948

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

thyroidother; neoplasmSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

breastcarcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

breastcarcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.55C>T; p.P19S; 3:49688637-49688637

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2178G>C; p.*726Y; 3:49684028-49684028

eye; uveal_tractmalignant_melanoma; spindleNonstop extension

c.1209C>T; p.V403V; 3:49685901-49685901

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2007G>A; p.G669G; 3:49684323-49684323

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.866G>A; p.R289H; 3:49686463-49686463

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.162G>A; p.A54A; 3:49687830-49687830

thyroidother; neoplasmSubstitution - coding silent

c.1092G>A; p.M364I; 3:49686117-49686117

livercarcinomaSubstitution - Missense

c.1092G>A; p.M364I; 3:49686117-49686117

livercarcinomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

skin; trunkmalignant_melanomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

skin; extremitymalignant_melanomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1046C>T; p.P349L; 3:49686163-49686163

central_nervous_system; braingliomaSubstitution - Missense

c.1100C>G; p.A367G; 3:49686109-49686109

central_nervous_system; braingliomaSubstitution - Missense

c.1863G>T; p.W621C; 3:49684563-49684563

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1863G>T; p.W621C; 3:49684563-49684563

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099G>A; p.A367T; 3:49686110-49686110

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1637C>T; p.T546M; 3:49684870-49684870

breastcarcinomaSubstitution - Missense

c.1637C>T; p.T546M; 3:49684870-49684870

autonomic_ganglianeuroblastomaSubstitution - Missense

c.310A>T; p.T104S; 3:49687601-49687601

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.310A>T; p.T104S; 3:49687601-49687601

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.310A>T; p.T104S; 3:49687601-49687601

urinary_tract; bladdercarcinomaSubstitution - Missense

c.310A>T; p.T104S; 3:49687601-49687601

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1603C>G; p.R535G; 3:49685031-49685031

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1603C>G; p.R535G; 3:49685031-49685031

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1603C>G; p.R535G; 3:49685031-49685031

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1342A>G; p.M448V; 3:49685641-49685641

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1778C>T; p.T593I; 3:49684648-49684648

pancreascarcinomaSubstitution - Missense

c.1118G>A; p.R373Q; 3:49686091-49686091

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1853T>C; p.I618T; 3:49684573-49684573

livercarcinomaSubstitution - Missense

c.2119G>A; p.V707I; 3:49684087-49684087

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2119G>A; p.V707I; 3:49684087-49684087

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.319C>T; p.R107W; 3:49687592-49687592

skinmalignant_melanomaSubstitution - Missense

c.319C>T; p.R107W; 3:49687592-49687592

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1097C>T; p.A366V; 3:49686112-49686112

central_nervous_system; braingliomaSubstitution - Missense

c.1239G>T; p.P413P; 3:49685871-49685871

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1657G>A; p.G553S; 3:49684850-49684850

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

thyroidother; neoplasmSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

urinary_tract; bladdercarcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>C; p.E261Q; 3:49686750-49686750

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1790G>A; p.R597H; 3:49684636-49684636

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.41G>A; p.R14K; 3:49688651-49688651

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.540T>C; p.G180G; 3:49687216-49687216

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1012T>C; p.C338R; 3:49686317-49686317

thyroidother; neoplasmSubstitution - Missense

c.1012T>C; p.C338R; 3:49686317-49686317

thyroidother; neoplasmSubstitution - Missense

c.1012T>C; p.C338R; 3:49686317-49686317

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.227C>T; p.P76L; 3:49687765-49687765

skin; trunkmalignant_melanomaSubstitution - Missense

c.1855G>A; p.A619T; 3:49684571-49684571

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.671G>A; p.R224H; 3:49687004-49687004

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.305_306CC>TT; p.P102L; 3:49687605-49687606

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.462T>C; p.N154N; 3:49687372-49687372

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.783G>C; p.E261D; 3:49686748-49686748

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.792G>A; p.W264*; 3:49686739-49686739

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.792G>A; p.W264*; 3:49686739-49686739

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.263G>A; p.S88N; 3:49687648-49687648

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.579G>C; p.Q193H; 3:49687177-49687177

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1251-2A>C; p.?; 3:49685734-49685734

autonomic_ganglianeuroblastomaUnknown

c.1120C>T; p.R374C; 3:49686089-49686089

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1120C>T; p.R374C; 3:49686089-49686089

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1812C>G; p.P604P; 3:49684614-49684614

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1120C>T; p.R374C; 3:49686089-49686089

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1039C>T; p.R347W; 3:49686170-49686170

skin; trunkmalignant_melanomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1039C>T; p.R347W; 3:49686170-49686170

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1039C>T; p.R347W; 3:49686170-49686170

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1116C>A; p.I372I; 3:49686093-49686093

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1039C>T; p.R347W; 3:49686170-49686170

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

urinary_tract; bladdercarcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1039C>T; p.R347W; 3:49686170-49686170

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1039C>T; p.R347W; 3:49686170-49686170

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>G; p.N256S; 3:49686764-49686764

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1247C>T; p.P416L; 3:49685863-49685863

skin; trunkmalignant_melanomaSubstitution - Missense

c.1247C>T; p.P416L; 3:49685863-49685863

NSmalignant_melanomaSubstitution - Missense

c.123A>G; p.Q41Q; 3:49687869-49687869

thyroidother; neoplasmSubstitution - coding silent

c.1247C>T; p.P416L; 3:49685863-49685863

NSmalignant_melanomaSubstitution - Missense

c.365G>T; p.R122L; 3:49687469-49687469

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.204A>C; p.E68D; 3:49687788-49687788

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1161C>T; p.G387G; 3:49685949-49685949

skinmalignant_melanomaSubstitution - coding silent

c.483T>C; p.T161T; 3:49687273-49687273

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

thyroidother; neoplasmSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.356A>G; p.D119G; 3:49687478-49687478

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2017G>A; p.G673S; 3:49684189-49684189

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2017G>A; p.G673S; 3:49684189-49684189

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1978T>C; p.C660R; 3:49684352-49684352

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2017G>A; p.G673S; 3:49684189-49684189

breastcarcinomaSubstitution - Missense

c.939T>C; p.T313T; 3:49686390-49686390

breastcarcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.939T>C; p.T313T; 3:49686390-49686390

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.171C>T; p.P57P; 3:49687821-49687821

thyroidother; neoplasmSubstitution - coding silent

c.610G>A; p.A204T; 3:49687065-49687065

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.660G>T; p.T220T; 3:49687015-49687015

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.414G>C; p.T138T; 3:49687420-49687420

skinmalignant_melanomaSubstitution - coding silent

c.1121G>A; p.R374H; 3:49686088-49686088

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.410C>T; p.A137V; 3:49687424-49687424

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.320G>A; p.R107Q; 3:49687591-49687591

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1093C>T; p.R365C; 3:49686116-49686116

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.978G>T; p.P326P; 3:49686351-49686351

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.978G>T; p.P326P; 3:49686351-49686351

thyroidother; neoplasmSubstitution - coding silent

c.978G>T; p.P326P; 3:49686351-49686351

thyroidother; neoplasmSubstitution - coding silent

c.1239G>A; p.P413P; 3:49685871-49685871

central_nervous_system; braingliomaSubstitution - coding silent

c.1239G>A; p.P413P; 3:49685871-49685871

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1239G>A; p.P413P; 3:49685871-49685871

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1348C>A; p.P450T; 3:49685635-49685635

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.492T>A; p.N164K; 3:49687264-49687264

urinary_tract; bladdercarcinomaSubstitution - Missense

c.258C>T; p.N86N; 3:49687653-49687653

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.550T>C; p.Y184H; 3:49687206-49687206

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1296C>T; p.F432F; 3:49685687-49685687

skinmalignant_melanomaSubstitution - coding silent

c.458C>G; p.P153R; 3:49687376-49687376

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1091T>C; p.M364T; 3:49686118-49686118

skin; trunkmalignant_melanomaSubstitution - Missense

c.1091T>C; p.M364T; 3:49686118-49686118

NSmalignant_melanomaSubstitution - Missense

c.1091T>C; p.M364T; 3:49686118-49686118

NSmalignant_melanomaSubstitution - Missense

c.1091T>C; p.M364T; 3:49686118-49686118

central_nervous_system; cerebellumglioma; ependymomaSubstitution - Missense

c.146_150delAGCAC; p.Q49fs*18; 3:49687842-49687846

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.2033C>T; p.P678L; 3:49684173-49684173

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1689G>A; p.E563E; 3:49684818-49684818

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1401G>A; p.P467P; 3:49685493-49685493

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.848-2A>C; p.?; 3:49686483-49686483

breastcarcinomaUnknown

c.848-2A>C; p.?; 3:49686483-49686483

oesophaguscarcinoma; adenocarcinomaUnknown

c.848-2A>C; p.?; 3:49686483-49686483

pancreascarcinomaUnknown

c.848-2A>C; p.?; 3:49686483-49686483

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.848-2A>C; p.?; 3:49686483-49686483

breastcarcinomaUnknown

c.848-2A>C; p.?; 3:49686483-49686483

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.612G>T; p.A204A; 3:49687063-49687063

pancreascarcinomaSubstitution - coding silent

c.1647_1648delGG; p.E549fs*57; 3:49684859-49684860

prostatecarcinomaDeletion - Frameshift

c.906T>G; p.G302G; 3:49686423-49686423

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.241C>T; p.R81W; 3:49687751-49687751

skin; trunkmalignant_melanomaSubstitution - Missense

c.323G>A; p.R108H; 3:49687588-49687588

pancreascarcinomaSubstitution - Missense

c.1008C>T; p.Y336Y; 3:49686321-49686321

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1304delA; p.N435fs*91; 3:49685679-49685679

breastcarcinomaDeletion - Frameshift

c.1304delA; p.N435fs*91; 3:49685679-49685679

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.54C>T; p.L18L; 3:49688638-49688638

skinmalignant_melanomaSubstitution - coding silent

c.77A>T; p.Q26L; 3:49688615-49688615

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1861T>C; p.W621R; 3:49684565-49684565

prostatecarcinomaSubstitution - Missense

c.1861T>C; p.W621R; 3:49684565-49684565

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1861T>C; p.W621R; 3:49684565-49684565

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.259G>A; p.V87M; 3:49687652-49687652

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.708G>A; p.Q236Q; 3:49686967-49686967

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1065C>T; p.P355P; 3:49686144-49686144

skinmalignant_melanomaSubstitution - coding silent

c.1772C>A; p.S591Y; 3:49684654-49684654

urinary_tract; bladdercarcinomaSubstitution - Missense

c.881C>G; p.T294S; 3:49686448-49686448

skin; extremitymalignant_melanomaSubstitution - Missense

c.881C>G; p.T294S; 3:49686448-49686448

urinary_tract; bladdercarcinomaSubstitution - Missense

c.881C>G; p.T294S; 3:49686448-49686448

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1565G>A; p.G522E; 3:49685069-49685069

ovaryother; neoplasmSubstitution - Missense

c.463G>T; p.D155Y; 3:49687371-49687371

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.430C>T; p.P144S; 3:49687404-49687404

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1131C>T; p.D377D; 3:49686078-49686078

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.523G>T; p.D175Y; 3:49687233-49687233

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1954G>T; p.G652*; 3:49684376-49684376

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2094A>G; p.V698V; 3:49684112-49684112

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.364C>T; p.R122W; 3:49687470-49687470

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2107C>T; p.R703C; 3:49684099-49684099

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1231G>T; p.E411*; 3:49685879-49685879

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2107C>T; p.R703C; 3:49684099-49684099

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2107C>T; p.R703C; 3:49684099-49684099

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2107C>T; p.R703C; 3:49684099-49684099

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2107C>T; p.R703C; 3:49684099-49684099

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2107C>T; p.R703C; 3:49684099-49684099

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.724G>C; p.G242R; 3:49686951-49686951

thyroidcarcinomaSubstitution - Missense

c.1117C>T; p.R373W; 3:49686092-49686092

central_nervous_system; braingliomaSubstitution - Missense

c.1216_1221delCAGCGC; p.Q406_R407delQR; 3:49685889-49685894

skinmalignant_melanomaDeletion - In frame

c.1919T>C; p.V640A; 3:49684411-49684411

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.591C>G; p.I197M; 3:49687165-49687165

breastcarcinomaSubstitution - Missense

c.735C>A; p.L245L; 3:49686796-49686796

thyroidcarcinomaSubstitution - coding silent

c.1789C>T; p.R597C; 3:49684637-49684637

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1164A>G; p.A388A; 3:49685946-49685946

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.306C>G; p.P102P; 3:49687605-49687605

urinary_tract; bladdercarcinomaSubstitution - coding silent


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