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

Basic Information

Gene ID

2137

Name

EXTL3

Synonymous

exostosin-like glycosyltransferase 3;EXTL3;exostosin-like glycosyltransferase 3

Definition

EXT-related 1|exostoses (multiple)-like 3|exostosin tumor-like 3|exostosin-like 3|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|hereditary multiple exostoses gene isolog|putative tumor suppressor protein EXTL3|reg receptor

Position

8p21

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 0.08.

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.830A>G; p.N277S; 8:28716889-28716889

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1377C>T; p.A459A; 8:28717436-28717436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2187C>T; p.F729F; 8:28731261-28731261

 oesophaguscarcinomaSubstitution - coding silent

c.2141C>A; p.P714H; 8:28718200-28718200

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1480C>T; p.H494Y; 8:28717539-28717539

 skinmalignant_melanomaSubstitution - Missense

c.1771C>A; p.R591S; 8:28717830-28717830

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.876T>C; p.S292S; 8:28716935-28716935

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2524C>A; p.H842N; 8:28743188-28743188

 ovarycarcinomaSubstitution - Missense

c.1679C>T; p.A560V; 8:28717738-28717738

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1587C>T; p.T529T; 8:28717646-28717646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1082G>A; p.R361H; 8:28717141-28717141

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2169C>A; p.N723K; 8:28731243-28731243

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1362C>T; p.A454A; 8:28717421-28717421

 skin; armmalignant_melanomaSubstitution - coding silent

c.1299C>T; p.I433I; 8:28717358-28717358

 skinmalignant_melanomaSubstitution - coding silent

c.1946A>C; p.E649A; 8:28718005-28718005

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2277G>A; p.R759R; 8:28737519-28737519

 skinmalignant_melanomaSubstitution - coding silent

c.1090G>A; p.E364K; 8:28717149-28717149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1090G>A; p.E364K; 8:28717149-28717149

 breastcarcinomaSubstitution - Missense

c.1466G>A; p.R489H; 8:28717525-28717525

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.N123N; 8:28716428-28716428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1775A>G; p.N592S; 8:28717834-28717834

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1041C>T; p.G347G; 8:28717100-28717100

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1545C>T; p.L515L; 8:28717604-28717604

 skinmalignant_melanomaSubstitution - coding silent

c.1154C>T; p.A385V; 8:28717213-28717213

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1117G>A; p.A373T; 8:28717176-28717176

 livercarcinomaSubstitution - Missense

c.1117G>A; p.A373T; 8:28717176-28717176

 livercarcinomaSubstitution - Missense

c.2417A>G; p.H806R; 8:28737659-28737659

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.998C>A; p.P333Q; 8:28717057-28717057

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1519G>T; p.A507S; 8:28717578-28717578

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.2362A>G; p.N788D; 8:28737604-28737604

 kidneyother; neoplasmSubstitution - Missense

c.2362A>G; p.N788D; 8:28737604-28737604

 breastcarcinomaSubstitution - Missense

c.264G>T; p.S88S; 8:28716323-28716323

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1310G>A; p.G437E; 8:28717369-28717369

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.979A>G; p.N327D; 8:28717038-28717038

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1545C>A; p.L515L; 8:28717604-28717604

 skinmalignant_melanomaSubstitution - coding silent

c.34G>A; p.A12T; 8:28716093-28716093

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2720G>A; p.R907H; 8:28750826-28750826

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2340C>A; p.I780I; 8:28737582-28737582

 livercarcinomaSubstitution - coding silent

c.1008G>A; p.P336P; 8:28717067-28717067

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1988T>C; p.F663S; 8:28718047-28718047

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.1548G>A; p.W516*; 8:28717607-28717607

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.169G>T; p.A57S; 8:28716228-28716228

 soft_tissue; striated_musclerhabdoid_tumourSubstitution - Missense

c.2059C>G; p.P687A; 8:28718118-28718118

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.458T>G; p.L153R; 8:28716517-28716517

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1263C>G; p.R421R; 8:28717322-28717322

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1307C>T; p.P436L; 8:28717366-28717366

 skinmalignant_melanomaSubstitution - Missense

c.36G>A; p.A12A; 8:28716095-28716095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2748C>G; p.F916L; 8:28750854-28750854

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1860C>T; p.D620D; 8:28717919-28717919

 skinmalignant_melanomaSubstitution - coding silent

c.1860C>T; p.D620D; 8:28717919-28717919

 skinmalignant_melanomaSubstitution - coding silent

c.1609C>T; p.R537C; 8:28717668-28717668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1960C>T; p.L654F; 8:28718019-28718019

 skinmalignant_melanomaSubstitution - Missense

c.2590C>G; p.Q864E; 8:28750696-28750696

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.919C>T; p.Q307*; 8:28716978-28716978

 skinmalignant_melanomaSubstitution - Nonsense

c.2236G>A; p.D746N; 8:28731310-28731310

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.660G>A; p.A220A; 8:28716719-28716719

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2684C>T; p.T895M; 8:28750790-28750790

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2613C>T; p.S871S; 8:28750719-28750719

 skinmalignant_melanomaSubstitution - coding silent

c.2685G>A; p.T895T; 8:28750791-28750791

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2419A>G; p.K807E; 8:28737661-28737661

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.677T>C; p.V226A; 8:28716736-28716736

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2146A>G; p.M716V; 8:28718205-28718205

 breastcarcinomaSubstitution - Missense

c.235G>A; p.V79M; 8:28716294-28716294

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.235G>A; p.V79M; 8:28716294-28716294

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1666C>T; p.R556C; 8:28717725-28717725

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2017G>A; p.E673K; 8:28718076-28718076

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2380G>C; p.E794Q; 8:28737622-28737622

 breastcarcinomaSubstitution - Missense

c.117C>T; p.I39I; 8:28716176-28716176

 skinmalignant_melanomaSubstitution - coding silent

c.1300A>G; p.I434V; 8:28717359-28717359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1612A>G; p.I538V; 8:28717671-28717671

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.230A>G; p.K77R; 8:28716289-28716289

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.533G>T; p.R178L; 8:28716592-28716592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2464C>T; p.R822W; 8:28743128-28743128

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.230A>G; p.K77R; 8:28716289-28716289

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2612C>T; p.S871F; 8:28750718-28750718

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1631C>T; p.P544L; 8:28717690-28717690

 skinmalignant_melanomaSubstitution - Missense

c.64C>T; p.R22C; 8:28716123-28716123

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.839G>T; p.R280L; 8:28716898-28716898

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2099A>T; p.K700M; 8:28718158-28718158

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1740G>A; p.T580T; 8:28717799-28717799

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.499G>A; p.G167S; 8:28716558-28716558

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.499G>A; p.G167S; 8:28716558-28716558

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2618T>C; p.F873S; 8:28750724-28750724

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.433C>T; p.L145F; 8:28716492-28716492

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1610G>T; p.R537L; 8:28717669-28717669

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2149-1G>T; p.?; 8:28731222-28731222

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1409delT; p.Y472fs*37; 8:28717468-28717468

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.234C>T; p.H78H; 8:28716293-28716293

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1570G>A; p.D524N; 8:28717629-28717629

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.758C>T; p.P253L; 8:28716817-28716817

 skinmalignant_melanomaSubstitution - Missense

c.2334G>T; p.W778C; 8:28737576-28737576

 livercarcinomaSubstitution - Missense

c.2361C>G; p.Y787*; 8:28737603-28737603

 breastcarcinomaSubstitution - Nonsense

c.1041C>A; p.G347G; 8:28717100-28717100

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1769T>C; p.L590P; 8:28717828-28717828

 prostatecarcinomaSubstitution - Missense

c.1958C>T; p.A653V; 8:28718017-28718017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.221G>A; p.C74Y; 8:28716280-28716280

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1290C>T; p.F430F; 8:28717349-28717349

 skinmalignant_melanomaSubstitution - coding silent

c.1290C>T; p.F430F; 8:28717349-28717349

 skinmalignant_melanomaSubstitution - coding silent

c.244C>T; p.L82L; 8:28716303-28716303

 skinmalignant_melanomaSubstitution - coding silent

c.264G>A; p.S88S; 8:28716323-28716323

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.820G>A; p.V274I; 8:28716879-28716879

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1197C>T; p.T399T; 8:28717256-28717256

 skinmalignant_melanomaSubstitution - coding silent

c.668G>A; p.R223Q; 8:28716727-28716727

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.83G>A; p.R28H; 8:28716142-28716142

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.862C>T; p.L288F; 8:28716921-28716921

 skinmalignant_melanomaSubstitution - Missense

c.1855T>G; p.F619V; 8:28717914-28717914

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2329G>A; p.A777T; 8:28737571-28737571

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2285G>A; p.R762K; 8:28737527-28737527

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1331C>T; p.S444F; 8:28717390-28717390

 skinmalignant_melanomaSubstitution - Missense

c.2285G>A; p.R762K; 8:28737527-28737527

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2139C>T; p.V713V; 8:28718198-28718198

 skinmalignant_melanomaSubstitution - coding silent

c.251G>A; p.R84H; 8:28716310-28716310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.953C>T; p.P318L; 8:28717012-28717012

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1455G>A; p.V485V; 8:28717514-28717514

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1455G>A; p.V485V; 8:28717514-28717514

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.472C>T; p.R158*; 8:28716531-28716531

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.104C>T; p.T35M; 8:28716163-28716163

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2059_2060CC>TT; p.P687F; 8:28718118-28718119

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1588G>A; p.V530M; 8:28717647-28717647

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1125C>T; p.Y375Y; 8:28717184-28717184

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1838T>C; p.L613P; 8:28717897-28717897

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.14C>T; p.T5I; 8:28716073-28716073

 skinmalignant_melanomaSubstitution - Missense

c.809_810insC; p.H271fs*11; 8:28716868-28716869

 breastcarcinomaInsertion - Frameshift

c.2594C>G; p.A865G; 8:28750700-28750700

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1841T>C; p.F614S; 8:28717900-28717900

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1841T>C; p.F614S; 8:28717900-28717900

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.744G>A; p.P248P; 8:28716803-28716803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2231A>T; p.D744V; 8:28731305-28731305

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.743C>T; p.P248L; 8:28716802-28716802

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1081C>T; p.R361C; 8:28717140-28717140

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1533A>C; p.Q511H; 8:28717592-28717592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1017G>C; p.R339R; 8:28717076-28717076

 skinmalignant_melanomaSubstitution - coding silent

c.1299C>G; p.I433M; 8:28717358-28717358

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1712G>A; p.G571E; 8:28717771-28717771

 skinmalignant_melanomaSubstitution - Missense

c.1772G>A; p.R591H; 8:28717831-28717831

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.702C>T; p.I234I; 8:28716761-28716761

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.702C>T; p.I234I; 8:28716761-28716761

 skinmalignant_melanomaSubstitution - coding silent

c.1528C>T; p.R510W; 8:28717587-28717587

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.602G>C; p.S201T; 8:28716661-28716661

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.416A>T; p.E139V; 8:28716475-28716475

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2560C>T; p.R854W; 8:28750666-28750666

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.623G>A; p.S208N; 8:28716682-28716682

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.780G>C; p.L260F; 8:28716839-28716839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.138C>T; p.I46I; 8:28716197-28716197

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.871G>A; p.V291I; 8:28716930-28716930

 skinmalignant_melanomaSubstitution - Missense

c.1770C>T; p.L590L; 8:28717829-28717829

 skin; armmalignant_melanomaSubstitution - coding silent

c.557C>T; p.S186F; 8:28716616-28716616

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.379G>A; p.D127N; 8:28716438-28716438

 thyroidother; neoplasmSubstitution - Missense

c.131C>T; p.P44L; 8:28716190-28716190

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.R252W; 8:28716813-28716813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1267G>A; p.E423K; 8:28717326-28717326

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.508C>T; p.P170S; 8:28716567-28716567

 skinmalignant_melanomaSubstitution - Missense

c.1226C>T; p.P409L; 8:28717285-28717285

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1646C>T; p.A549V; 8:28717705-28717705

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1325T>G; p.V442G; 8:28717384-28717384

 skinmalignant_melanomaSubstitution - Missense

c.542_543insCCATGT; p.N181_C182insHV; 8:28716601-28716602

 ovarycarcinoma; serous_carcinomaInsertion - In frame

c.2257G>A; p.E753K; 8:28731331-28731331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.77G>A; p.R26H; 8:28716136-28716136

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.786C>T; p.S262S; 8:28716845-28716845

 skinmalignant_melanomaSubstitution - coding silent

c.2257G>A; p.E753K; 8:28731331-28731331

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1227G>A; p.P409P; 8:28717286-28717286

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1842C>T; p.F614F; 8:28717901-28717901

 skinmalignant_melanomaSubstitution - coding silent

c.1308C>T; p.P436P; 8:28717367-28717367

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1047G>A; p.K349K; 8:28717106-28717106

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2400A>C; p.T800T; 8:28737642-28737642

 pancreascarcinomaSubstitution - coding silent

c.2507T>C; p.M836T; 8:28743171-28743171

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1610G>A; p.R537H; 8:28717669-28717669

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2400A>C; p.T800T; 8:28737642-28737642

 pancreascarcinomaSubstitution - coding silent

c.1937C>T; p.S646F; 8:28717996-28717996

 skinmalignant_melanomaSubstitution - Missense

c.2662G>A; p.G888S; 8:28750768-28750768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1576A>G; p.I526V; 8:28717635-28717635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2504C>T; p.A835V; 8:28743168-28743168

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2487C>G; p.I829M; 8:28743151-28743151

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.904A>G; p.T302A; 8:28716963-28716963

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>A; p.E456K; 8:28717425-28717425

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2461A>G; p.I821V; 8:28743125-28743125

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.526G>A; p.G176S; 8:28716585-28716585

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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